rsID chrm SNP Position REF ALT Gene GAF Clinical Significant Fxn class rs28940891 chr1 5874946 A G NPHP4 Pathogenic missense,nc-transcript-variant rs137852919 chr1 5887394 C A NPHP4 Pathogenic nc-transcript-variant,stop-gained rs12120967 chr1 5905321 T T NPHP4 0.0882/192 Benign nc-transcript-variant,synonymous-codon rs63750315 chr1 6469444 A G PLEKHG5 Pathogenic missense rs28938172 chr1 7984981 T C PARK7 Pathogenic missense rs397518423 chr1 9726972 A A PIK3CD Pathogenic missense rs387907294 chr1 9972098 T A NMNAT1 Pathogenic missense,nc-transcript-variant rs150726175 chr1 9982630 A A NMNAT1 0.0005/1 Pathogenic missense,nc-transcript-variant rs387907291 chr1 9982678 A G NMNAT1 Pathogenic missense,nc-transcript-variant rs387907290 chr1 9982699 A C NMNAT1 Pathogenic nc-transcript-variant,stop-lost rs11121552 chr1 10375266 T A KIF1B 0.2603/567 Benign synonymous-codon rs80356715 chr1 11016874 T T TARDBP Benign missense rs80356717 chr1 11018836 T G TARDBP Pathogenic missense rs267607102 chr1 11022196 A G TARDBP Pathogenic missense rs80356718 chr1 11022209 T G TARDBP 0.0005/1 Pathogenic missense rs80356719 chr1 11022268 G A,C TARDBP Pathogenic missense rs121908395 chr1 11022278 T C TARDBP Pathogenic missense rs80356725 chr1 11022340 T G TARDBP Pathogenic missense rs80356726 chr1 11022352 C A TARDBP Pathogenic missense rs80356738 chr1 11022544 C C TARDBP Pathogenic missense rs80356739 chr1 11022545 T G TARDBP Pathogenic missense rs367543041 chr1 11022553 C A,C TARDBP Pathogenic missense rs118203945 chr1 11273836 C G UBIAD1 Pathogenic missense rs118203947 chr1 11273886 G G UBIAD1 Pathogenic missense rs118203948 chr1 11274055 A T UBIAD1 Pathogenic missense rs118203946 chr1 11274060 G C UBIAD1 Pathogenic missense rs397514669 chr1 11285644 A A UBIAD1 Pathogenic missense rs118203949 chr1 11285809 C G UBIAD1 Pathogenic intron-variant,missense rs45590836 chr1 11791216 A T MTHFR Pathogenic missense rs121434296 chr1 11794766 G A MTHFR Pathogenic missense rs121434294 chr1 11800251 G A MTHFR Pathogenic stop-gained rs28940293 chr1 11992606 G C MFN2 Pathogenic missense rs119103266 chr1 11998787 C T MFN2 Pathogenic missense rs119103261 chr1 12002014 T C MFN2 Pathogenic missense rs28940292 chr1 12011510 G C MFN2 Pathogenic missense rs121909135 chr1 16051544 A C CLCNKB Pathogenic missense rs137853200 chr1 16129440 T A EPHA2 Pathogenic missense rs56126202 chr1 16986896 G C ATP13A2 0.0349/76 Benign synonymous-codon rs3738815 chr1 16988207 G T ATP13A2 0.3081/671 Benign synonymous-codon rs74315368 chr1 17022648 G T SDHB Pathogenic missense rs33927012 chr1 17027802 T G SDHB 0.0078/17 Pathogenic missense rs398122805 chr1 17028599 G T SDHB Pathogenic splice-donor-variant rs267607032 chr1 17028605 A A SDHB Pathogenic missense rs74315372 chr1 17028628 G C,G SDHB Pathogenic missense rs74315371 chr1 17028721 A T SDHB Pathogenic missense rs121917755 chr1 17028724 A A SDHB Pathogenic missense rs74315366 chr1 17033078 G A SDHB 0.0005/1 Pathogenic missense,stop-gained,synonymous-codon rs74315370 chr1 17044825 A C SDHB Pathogenic missense rs121918004 chr1 21564188 G C ALPL Pathogenic missense rs28940884 chr1 23796722 T C GALE 0.0023/4 Pathogenic missense rs28940883 chr1 23798160 C C GALE Pathogenic missense rs121908046 chr1 23798907 T C GALE Pathogenic missense rs121964998 chr1 23804441 T T HMGCL Pathogenic missense rs719400 chr1 23808231 A C HMGCL 0.1047/227 Benign synonymous-codon rs121964996 chr1 23817520 A G HMGCL Pathogenic missense rs118204450 chr1 23845837 A A FUCA1 Pathogenic stop-gained rs80358197 chr1 23848649 A T FUCA1 Pathogenic missense,stop-gained rs13551 chr1 23854472 G C FUCA1 0.2511/547 Benign missense rs121912762 chr1 25284753 G C RHD Pathogenic missense,utr-variant-5-prime rs121912763 chr1 25303329 G G RHD 0.0005/1 Pathogenic missense rs609320 chr1 25390874 A G RHCE 0.1621/352 Benign intron-variant,missense rs1053344 chr1 25408815 T C RHCE Benign missense rs398124360 chr1 25801161 T T SEPN1 Pathogenic splice-donor-variant rs61756316 chr1 26775697 C G ARID1A 0.0312/67 Benign missense rs267606952 chr1 26794800 A A PIGV Pathogenic missense rs121434564 chr1 28993490 G C,G EPB41 Pathogenic missense rs267606646 chr1 33013204 A A AK2 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs267606643 chr1 33014526 C C AK2 Pathogenic missense,nc-transcript-variant rs80358213 chr1 34761820 C A GJB4 Pathogenic missense rs74315320 chr1 34785183 T G GJB3 Pathogenic missense rs387906986 chr1 37537842 C C SNIP1 Pathogenic missense rs72937434 chr1 40074145 T G PPT1 0.0207/45 Benign missense rs1800205 chr1 40091361 T G PPT1 0.0693/151 Benign intron-variant,missense rs137852701 chr1 40092085 T G PPT1 Pathogenic intron-variant,missense rs137852696 chr1 40092409 C G PPT1 Pathogenic intron-variant,missense rs137852702 chr1 40092498 A T PPT1 Pathogenic intron-variant,missense rs121908095 chr1 40272009 T G,T ZMPSTE24 Pathogenic missense rs281875376 chr1 40292590 G A ZMPSTE24 Pathogenic stop-gained rs55737429 chr1 40819881 T C KCNQ4 0.0450/97 Benign synonymous-codon rs80358278 chr1 40819882 G C KCNQ4 Pathogenic missense rs28937588 chr1 40819893 G A,T KCNQ4 Pathogenic missense rs80359828 chr1 42927173 T T SLC2A1 Pathogenic stop-gained rs119474039 chr1 44875634 T G EIF2B3 Pathogenic missense rs113994024 chr1 44881722 G T EIF2B3 Pathogenic missense rs113994022 chr1 44978349 C A EIF2B3 Pathogenic missense rs11556200 chr1 44978366 T A EIF2B3 0.2828/615 Benign synonymous-codon rs397514765 chr1 45013663 A T UROD Pathogenic nc-transcript-variant,stop-gained rs121918063 chr1 45013928 G G UROD Pathogenic missense,nc-transcript-variant rs121918058 chr1 45013933 A A UROD Pathogenic missense,nc-transcript-variant rs121918066 chr1 45015389 C A UROD Pathogenic missense,nc-transcript-variant rs3219497 chr1 45329355 G A,G MUTYH 0.0119/26 Benign missense rs121908380 chr1 45333449 T A,T MUTYH 0.0009/2 Pathogenic stop-gained,synonymous-codon,utr-variant-5-prime rs121918241 chr1 45508329 G T MMACHC Pathogenic stop-gained rs193919336 chr1 46193873 G T POMGNT1 Pathogenic missense rs2292487 chr1 46194623 T C POMGNT1 0.2989/650 Benign synonymous-codon rs121918609 chr1 47251285 A A STIL Pathogenic stop-gained rs3766317 chr1 47251566 C A STIL 0.0014/2 Benign missense rs199422204 chr1 47260511 A T STIL Benign missense rs28472545 chr1 47281196 G G STIL Benign missense,utr-variant-5-prime rs3125630 chr1 47302242 C A STIL 0.3930/855 Benign missense rs387906826 chr1 52397707 C C ORC1 Pathogenic missense rs387906827 chr1 52397821 A G ORC1 Pathogenic missense rs74315294 chr1 53202427 G T CPT2 0.0009/2 Pathogenic missense rs121918528 chr1 53210033 C G CPT2 Pathogenic missense rs74315299 chr1 53211034 A T CPT2 Pathogenic stop-gained rs1799822 chr1 53213557 T G CPT2 0.1272/277 Benign missense rs281797256 chr1 54865405 T G DHCR24 Pathogenic missense rs281797257 chr1 54865442 T G DHCR24 Pathogenic missense rs652785 chr1 56875054 A A C8A 0.3278/714 Benign missense rs140813121 chr1 56949599 A A C8B 0.0005/1 Pathogenic missense,synonymous-codon rs61755863 chr1 63411996 C G ALG6 0.0087/19 Benign missense rs121918371 chr1 63629521 C G PGM1 Pathogenic missense,utr-variant-5-prime rs398122404 chr1 65385710 G G DNAJC6 Pathogenic splice-acceptor-variant rs62636300 chr1 68431328 A C RPE65 Pathogenic missense rs62653011 chr1 68438213 T G RPE65 Pathogenic missense rs149916178 chr1 68438977 T C RPE65 0.0009/2 Benign missense rs61752878 chr1 68444632 A T RPE65 Pathogenic missense rs61752871 chr1 68444858 T A RPE65 Pathogenic missense rs28941785 chr1 70415987 T T CTH 0.0032/7 Pathogenic missense,utr-variant-5-prime rs1021737 chr1 70439117 T T CTH 0.2259/491 Pathogenic missense rs147559466 chr1 75732652 A A ACADM 0.0028/5 Pathogenic missense,utr-variant-5-prime rs398123072 chr1 75732682 G T ACADM Pathogenic missense,utr-variant-5-prime rs78392995 chr1 75740000 G G ACADM 0.0156/34 Benign synonymous-codon,utr-variant-5-prime rs121434279 chr1 75740088 C G ACADM Pathogenic missense rs121434276 chr1 75749440 G C ACADM Pathogenic missense rs121434281 chr1 75749444 A T ACADM Pathogenic missense rs77931234 chr1 75761161 A C,T ACADM 0.0023/4 Pathogenic missense,stop-gained rs121434275 chr1 75761300 A C ACADM Pathogenic missense rs35117963 chr1 77918189 G A NEXN 0.0106/22 Benign synonymous-codon rs387907079 chr1 77918217 A G NEXN Pathogenic missense rs137853198 chr1 77942632 C A NEXN Pathogenic missense rs137853197 chr1 77942756 T G NEXN Pathogenic missense rs121434405 chr1 92833452 G T FAM69A,RPL5 Pathogenic intron-variant,stop-gained rs41292677 chr1 94001992 C G ABCA4 0.0037/7 Pathogenic missense rs61751383 chr1 94005500 T A ABCA4 Pathogenic stop-gained rs61751408 chr1 94005509 C A ABCA4 0.0005/1 Pathogenic missense rs61753033 chr1 94008767 G G ABCA4 Pathogenic missense rs121909207 chr1 94014665 G C ABCA4 Pathogenic missense rs61750126 chr1 94040048 G C ABCA4 0.0207/45 Pathogenic missense rs61750120 chr1 94042767 A A ABCA4 0.0005/1 Pathogenic missense rs121909204 chr1 94043443 C A ABCA4 Pathogenic missense rs61749438 chr1 94055133 C T ABCA4 Pathogenic stop-gained rs61748559 chr1 94063157 G G,T ABCA4 Pathogenic missense rs61748548 chr1 94080559 C C ABCA4 Pathogenic missense rs72547602 chr1 97079133 C A DPYD Pathogenic missense rs199922945 chr1 99880047 T T AGL 0.0005/1 Pathogenic splice-donor-variant rs113994130 chr1 99884612 G T AGL Pathogenic stop-gained rs267606639 chr1 99900712 G G AGL Pathogenic missense rs398122524 chr1 100011413 A T SLC35A3 Pathogenic stop-gained rs121965002 chr1 100196349 G C DBT Pathogenic missense rs398123676 chr1 100214817 T G DBT Pathogenic missense rs185492864 chr1 100214855 A A DBT 0.0005/1 Pathogenic missense rs74103423 chr1 100216085 A A DBT 0.0009/2 Pathogenic stop-gained rs121965001 chr1 100230872 A C DBT Pathogenic intron-variant,missense,utr-variant-5-prime rs398122828 chr1 102915630 G T COL11A1 Pathogenic splice-donor-variant rs267606854 chr1 108897592 G T GPSM2 Pathogenic stop-gained rs41279678 chr1 108897593 A A GPSM2 0.0758/165 Benign missense rs121434585 chr1 109610108 C A GNAT2 Pathogenic stop-gained rs72552271 chr1 112913980 A T SLC16A1 0.0023/4 Pathogenic missense rs34287100 chr1 114673936 T G AMPD1 0.0032/7 Benign synonymous-codon rs61752478 chr1 114678495 A A AMPD1 0.0023/4 Pathogenic missense rs61752479 chr1 114688633 G A AMPD1 0.0546/119 Pathogenic missense rs17602729 chr1 114693436 T A AMPD1 0.0533/116 Pathogenic intron-variant,missense rs267606920 chr1 114713911 C T NRAS Pathogenic missense rs267606921 chr1 114713941 T A NRAS Pathogenic missense rs121918669 chr1 115033456 A T TSHB Pathogenic stop-gained,upstream-variant-2KB rs121918668 chr1 115033507 G A TSHB Pathogenic missense,upstream-variant-2KB rs121918670 chr1 115034015 A T TSHB Pathogenic stop-gained rs10801999 chr1 115768316 G T CASQ2 0.0363/78 Benign missense rs397507556 chr1 115768445 G A CASQ2 Pathogenic stop-gained rs80358220 chr1 119422165 C A HSD3B2 Pathogenic missense rs80358221 chr1 119422277 G T HSD3B2 Pathogenic missense rs80358218 chr1 119422620 T C HSD3B2 Pathogenic stop-lost rs387906746 chr1 119916100 C A NOTCH2 Pathogenic stop-gained rs111033632 chr1 119967555 A T NOTCH2 Pathogenic missense rs312262793 chr1 119968224 C G NOTCH2 Pathogenic missense rs74315326 chr1 146018516 T G HFE2 Pathogenic missense rs74315325 chr1 146018693 T T HFE2 Pathogenic missense,utr-variant-5-prime rs121434243 chr1 150344201 T A PRPF3 Pathogenic missense,nc-transcript-variant rs29001685 chr1 150796863 G G CTSK Pathogenic missense rs199474718 chr1 154170442 C C TPM3 Pathogenic missense,nc-transcript-variant rs199474715 chr1 154172969 A C TPM3 Pathogenic missense,nc-transcript-variant rs121964852 chr1 154172971 G T TPM3 Pathogenic missense,nc-transcript-variant rs121964854 chr1 154172972 A A,C TPM3 Pathogenic missense,nc-transcript-variant rs80358248 chr1 154191925 C A TPM3 Pathogenic nc-transcript-variant,stop-gained rs121908165 chr1 154273538 G T HAX1 Pathogenic stop-gained rs74315322 chr1 154275165 A T HAX1 Pathogenic stop-gained rs398122822 chr1 154588125 G T ADAR Pathogenic missense rs398122892 chr1 154589456 G T ADAR Pathogenic missense rs74598136 chr1 155235750 G A GBA Pathogenic missense rs121908314 chr1 155235841 G C GBA Pathogenic missense rs76763715 chr1 155235843 T C,G GBA 0.0014/2 Pathogenic missense rs398123526 chr1 155236409 C G GBA Pathogenic missense rs121908304 chr1 155236416 C A GBA Pathogenic missense rs78198234 chr1 155236420 G C GBA Pathogenic missense rs78396650 chr1 155236426 C A GBA Pathogenic missense rs78973108 chr1 155237453 G T GBA Pathogenic missense rs121908303 chr1 155237577 C C GBA Pathogenic missense rs381737 chr1 155238141 G T GBA Pathogenic missense rs121908300 chr1 155238144 T G GBA Pathogenic missense rs121908297 chr1 155238519 G G GBA Pathogenic missense rs28933092 chr1 156134497 A G,T LMNA Pathogenic missense rs61214927 chr1 156134853 A A LMNA Pathogenic missense rs267607593 chr1 156134964 A C LMNA Pathogenic missense rs28928902 chr1 156136951 G G,T LMNA Pathogenic missense rs267607033 chr1 156162993 A C SEMA4A Pathogenic missense rs7418956 chr1 158662793 T T SPTA1 0.0124/27 Pathogenic missense,synonymous-codon rs121918636 chr1 158678432 C G SPTA1 Pathogenic missense rs121918634 chr1 158678434 G G SPTA1 Pathogenic missense rs121918643 chr1 158680641 G G SPTA1 0.0009/2 Pathogenic missense rs137853067 chr1 160041938 G A KCNJ10 Pathogenic stop-gained rs137853069 chr1 160042042 T A KCNJ10 Pathogenic missense rs137853068 chr1 160042115 T G KCNJ10 Pathogenic missense rs121918617 chr1 160127660 T C ATP1A2 Pathogenic missense rs267607168 chr1 160425122 C C VANGL2 Pathogenic missense rs121918323 chr1 161169070 G C PPOX Pathogenic missense rs28936676 chr1 161170467 C C PPOX Pathogenic intron-variant,missense rs267607247 chr1 161305953 C A MPZ Pathogenic missense rs121913595 chr1 161306785 T A,T MPZ Pathogenic missense rs121913608 chr1 161306789 A T MPZ Pathogenic missense rs281865130 chr1 161306809 T C MPZ Pathogenic missense rs267607242 chr1 161306810 G G MPZ Pathogenic missense rs267607241 chr1 161306815 T G MPZ Pathogenic missense rs281865126 chr1 161306819 A A MPZ Pathogenic missense rs281865124 chr1 161306912 G G MPZ Pathogenic missense rs121913594 chr1 161306914 G C MPZ Pathogenic missense rs281865123 chr1 161306915 G A MPZ Pathogenic missense rs121913602 chr1 161307308 G A MPZ Pathogenic missense rs121913604 chr1 161307314 T G MPZ Pathogenic missense rs281865122 chr1 161307317 G T MPZ Pathogenic missense rs386833413 chr1 161356776 C T SDHC Benign intron-variant,missense,nc-transcript-variant rs10127939 chr1 161548543 G C,T FCGR3A 0.0358/78 Pathogenic missense rs199890941 chr1 161629781 A C FCGR3B Pathogenic missense rs76714703 chr1 161629903 T C FCGR3B Pathogenic missense rs200688856 chr1 161629989 C C FCGR3B Pathogenic missense rs121964865 chr1 162776225 A T DDR2 Pathogenic missense rs121964864 chr1 162776264 A G DDR2 Pathogenic missense rs121908986 chr1 165683019 A G ALDH9A1 Benign missense rs201213306 chr1 165752166 A A TMCO1 Pathogenic missense,nc-transcript-variant,synonymous-codon rs61049753 chr1 169468652 G T SLC19A2 0.0170/37 Benign synonymous-codon rs74315373 chr1 169477478 A A SLC19A2 Pathogenic missense,stop-gained,synonymous-codon rs118203909 chr1 169541609 G A F5 Pathogenic stop-gained rs119455951 chr1 170539515 A T GORAB Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs72549323 chr1 171103850 A C,T FMO3 Pathogenic intron-variant,missense rs72549325 chr1 171107795 G A,T FMO3 Pathogenic stop-gained rs1736557 chr1 171110939 T A FMO3 0.0941/204 Pathogenic missense rs61753344 chr1 171114092 A T FMO3 0.0005/1 Pathogenic stop-gained rs2266780 chr1 171114102 G G FMO3 0.1299/283 Pathogenic missense rs28363581 chr1 171114258 A C FMO3 0.0014/2 Pathogenic missense rs72549332 chr1 171117145 G A FMO3 Pathogenic missense rs74315331 chr1 171636010 T C,T MYOC Pathogenic missense rs74315338 chr1 171636143 G G MYOC Pathogenic missense rs74315336 chr1 171636173 A C MYOC Pathogenic missense,stop-gained rs142433332 chr1 173831632 A C DARS2 Pathogenic splice-donor-variant rs121918210 chr1 173833419 T A DARS2 Pathogenic missense rs121918206 chr1 173838206 G T DARS2 Pathogenic stop-gained rs121918207 chr1 173838207 A A,C DARS2 Pathogenic missense rs141298312 chr1 173839539 A A DARS2 0.0129/27 Benign missense rs121918211 chr1 173850408 A T DARS2 Pathogenic intron-variant,stop-gained rs121918213 chr1 173857644 G A DARS2 Pathogenic missense rs121909564 chr1 173903902 G A SERPINC1 Pathogenic missense rs121909566 chr1 173904013 C T SERPINC1 Pathogenic missense rs121909572 chr1 173910849 C G SERPINC1 Pathogenic missense rs121909562 chr1 173911942 G A SERPINC1 Pathogenic stop-gained rs121909567 chr1 173914570 G A SERPINC1 Pathogenic missense rs74315347 chr1 179557227 G T NPHS2 Pathogenic intron-variant,missense rs74315342 chr1 179561327 G T NPHS2 Pathogenic intron-variant,missense rs74315343 chr1 179561328 G A NPHS2 Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs121912641 chr1 180271856 C C RP5-1180C10.2,LHX4 Pathogenic missense,nc-transcript-variant rs3863720 chr1 181049122 G A MR1 0.0165/35 Benign intron-variant,synonymous-codon rs74315364 chr1 182586014 T A RNASEL 0.0023/4 Pathogenic stop-gained rs74315365 chr1 182586804 A T RNASEL Pathogenic missense rs80356683 chr1 183215467 G T LAMC2 Pathogenic stop-gained rs118203899 chr1 183225719 A G LAMC2 Pathogenic stop-gained rs119103276 chr1 183577667 A A NCF2 Pathogenic stop-gained rs119103275 chr1 183586922 G T NCF2 Pathogenic missense rs74967568 chr1 186082892 G A HMCN1 0.0055/11 Benign missense rs121434634 chr1 186894164 C C PLA2G4A Pathogenic missense,nc-transcript-variant rs121913058 chr1 196676018 T T CFH Pathogenic missense rs121913054 chr1 196677613 A A,T CFH Pathogenic stop-gained rs121913061 chr1 196690125 A T CFH Pathogenic stop-gained rs121913056 chr1 196690194 G A CFH Pathogenic missense rs121913062 chr1 196743552 A T CFH Pathogenic missense rs460184 chr1 196747207 T C CFH Pathogenic missense rs121913059 chr1 196747245 G T CFH Pathogenic missense rs199422199 chr1 197090073 A A ASPM Pathogenic stop-gained rs199422189 chr1 197090929 A C ASPM Pathogenic stop-gained rs36004306 chr1 197091956 G C ASPM 0.0197/43 Benign missense rs3762271 chr1 197101312 G T ASPM 0.2461/535 Benign intron-variant,missense rs199422175 chr1 197101357 A A ASPM Pathogenic intron-variant,stop-gained rs41310927 chr1 197101567 T C ASPM 0.2461/535 Benign intron-variant,missense rs41308365 chr1 197101577 A A,T ASPM 0.2461/535 Benign intron-variant,missense,synonymous-codon rs41299623 chr1 197104066 C A ASPM 0.0069/14 Benign intron-variant,missense,synonymous-codon rs199422162 chr1 197105177 C T ASPM Pathogenic intron-variant,stop-gained rs137852995 chr1 197117876 C T ASPM Pathogenic stop-gained rs140602858 chr1 197121974 A A ASPM Pathogenic missense,synonymous-codon rs199422161 chr1 197121989 T A ASPM Pathogenic stop-gained rs199422157 chr1 197122459 A C ASPM Pathogenic stop-gained rs199422152 chr1 197125161 C T ASPM Pathogenic stop-gained rs199422151 chr1 197125190 C A ASPM Pathogenic stop-gained rs113161395 chr1 197128621 C G ASPM 0.0064/14 Benign missense rs199422148 chr1 197139803 T A ASPM Pathogenic stop-gained rs137852996 chr1 197144049 G A ASPM Pathogenic stop-gained rs28939720 chr1 197427559 G T CRB1 Pathogenic intron-variant,missense,nc-transcript-variant rs62635654 chr1 197427615 G T CRB1 Pathogenic intron-variant,missense,nc-transcript-variant rs62645748 chr1 197434706 T A CRB1 Pathogenic intron-variant,missense,nc-transcript-variant rs62635659 chr1 197435162 A C,G CRB1 Pathogenic intron-variant,missense,nc-transcript-variant rs62636275 chr1 197435170 G A CRB1 Pathogenic intron-variant,missense,nc-transcript-variant rs1800559 chr1 201060815 G T CACNA1S Pathogenic missense rs80338782 chr1 201060816 C A,T CACNA1S 0.0005/1 Pathogenic missense rs111377893 chr1 201359622 A G,T TNNT2 Pathogenic splice-donor-variant rs121964861 chr1 201359636 G T TNNT2 Pathogenic missense rs121964858 chr1 201365244 G T TNNT2 Pathogenic intron-variant,missense rs2297950 chr1 203225058 G T CHIT1 0.3007/655 Pathogenic intron-variant,missense,nc-transcript-variant rs137852607 chr1 203225706 G T CHIT1 0.0014/2 Pathogenic missense,nc-transcript-variant rs121917740 chr1 204155078 G A REN Pathogenic stop-gained rs397514691 chr1 204160648 A T REN Pathogenic missense rs397514690 chr1 204162135 G A REN Pathogenic stop-gained rs121909603 chr1 207322542 T A CD55 Pathogenic stop-gained rs121912485 chr1 209618555 G A LAMB3 Pathogenic stop-gained rs80356682 chr1 209625721 G A LAMB3 Pathogenic stop-gained rs28942095 chr1 209788626 A A IRF6 Pathogenic missense rs121434225 chr1 209789669 A A IRF6 Pathogenic stop-gained rs121434224 chr1 209796453 T A IRF6 Pathogenic stop-gained,utr-variant-5-prime rs58257972 chr1 215625828 G C USH2A 0.0142/30 Benign missense rs45549044 chr1 215671031 G T USH2A 0.0032/7 Benign missense rs730254 chr1 215674202 G T USH2A 0.0032/7 Benign missense rs2009923 chr1 215674720 T T USH2A 0.2062/448 Benign missense rs397517983 chr1 215675043 T A USH2A Pathogenic stop-gained rs145830318 chr1 215675168 G C USH2A 0.0028/5 Benign missense rs397517976 chr1 215728142 A T USH2A Pathogenic stop-gained rs111033364 chr1 215728232 A T USH2A Pathogenic stop-gained rs111033414 chr1 215759844 T T USH2A Pathogenic splice-acceptor-variant rs145207584 chr1 215779924 G C USH2A 0.0014/2 Benign missense rs10864198 chr1 215786825 C G USH2A 0.3981/867 Benign missense rs397518048 chr1 215817143 A A USH2A Pathogenic stop-gained rs397518046 chr1 215838058 G A USH2A Pathogenic stop-gained rs56056328 chr1 215838100 A T USH2A 0.0064/14 Benign missense rs397518041 chr1 215845898 A T USH2A Pathogenic stop-gained rs41277200 chr1 215877783 C A USH2A 0.0670/146 Benign missense rs397518029 chr1 215934672 A C USH2A Pathogenic stop-gained rs111033394 chr1 215934786 T C USH2A 0.0041/8 Benign missense rs398124619 chr1 215970720 T A USH2A Pathogenic stop-gained rs56245532 chr1 216046486 A C USH2A 0.0041/8 Benign missense rs147883884 chr1 216070109 T G USH2A 0.0032/7 Benign missense rs41303287 chr1 216070175 A C USH2A 0.0023/4 Benign missense rs397518023 chr1 216070293 T T USH2A Pathogenic splice-acceptor-variant rs397518022 chr1 216072887 C G LOC102723833,USH2A Pathogenic intron-variant,splice-donor-variant rs397518021 chr1 216072958 A A LOC102723833,USH2A Pathogenic intron-variant,stop-gained rs111033421 chr1 216078144 A T LOC102723833,USH2A 0.0046/10 Benign intron-variant,synonymous-codon rs397518011 chr1 216207280 T T USH2A Pathogenic stop-gained rs111033481 chr1 216246848 A T USH2A 0.0092/20 Benign missense rs80338902 chr1 216247118 A A USH2A 0.0005/1 Pathogenic missense rs45555435 chr1 216250961 T G USH2A 0.0115/24 Benign missense rs397518003 chr1 216289412 G C USH2A Pathogenic splice-acceptor-variant rs397517974 chr1 216325304 C T USH2A Pathogenic splice-donor-variant rs121912599 chr1 216325492 A T USH2A Pathogenic missense rs45500891 chr1 216365049 G T USH2A 0.0087/19 Benign missense rs387907278 chr1 218437423 C A TGFB2 Pathogenic missense,nc-transcript-variant rs281860291 chr1 219915861 G G SLC30A10 Pathogenic missense,nc-transcript-variant rs281860290 chr1 219918291 T A SLC30A10 Pathogenic nc-transcript-variant,stop-gained rs11547779 chr1 220157330 A A,T RAB3GAP2 0.0597/130 Benign missense,synonymous-codon rs2289189 chr1 220157863 T G RAB3GAP2 0.0592/129 Benign missense rs74139292 chr1 220196272 T A RAB3GAP2 0.0009/2 Benign missense rs5744168 chr1 223111858 G A TLR5 0.0399/86 Pathogenic missense,stop-gained,synonymous-codon rs200180113 chr1 225411411 G A LBR Pathogenic missense rs137852605 chr1 225422087 G A LBR Pathogenic missense rs63750048 chr1 226883817 G T PSEN2 Pathogenic missense rs28936380 chr1 226885546 G G PSEN2 Pathogenic missense rs63750215 chr1 226885603 C T PSEN2 Pathogenic missense rs63750666 chr1 226895521 G T PSEN2 Pathogenic missense rs119468008 chr1 226984910 T G ADCK3 Pathogenic missense rs121909529 chr1 229431830 C A ACTA1 Pathogenic missense rs80358193 chr1 231374041 G C EGLN1 Pathogenic missense rs121908384 chr1 235437471 G A TBCE Pathogenic stop-gained rs367543077 chr1 235450286 A A B3GALNT2 Pathogenic stop-gained rs367543076 chr1 235458753 G G B3GALNT2 Pathogenic intron-variant,missense rs367543074 chr1 235465675 A T B3GALNT2 Pathogenic missense rs367543073 chr1 235470857 C C B3GALNT2 Pathogenic missense rs80338663 chr1 235734590 T T LYST Pathogenic missense rs80338660 chr1 235766122 T T LYST Pathogenic stop-gained rs28942077 chr1 235766204 C T LYST Pathogenic missense rs80338657 chr1 235788701 G T LYST Pathogenic missense rs80338643 chr1 235830270 A A LYST Pathogenic nc-transcript-variant,stop-gained rs121908116 chr1 236482366 A G EDARADD Pathogenic missense rs74315309 chr1 236482455 A A EDARADD Pathogenic missense rs116464082 chr1 236737208 A A ACTN2 0.0028/5 Benign synonymous-codon rs80257412 chr1 236747683 A A ACTN2 0.0239/51 Benign missense rs34975493 chr1 236755183 A A ACTN2 0.0303/65 Benign synonymous-codon rs121913579 chr1 236885202 A G MTR Pathogenic missense rs121913581 chr1 236897020 A T MTR Pathogenic stop-gained rs3765097 chr1 237454457 C T RYR2 0.4467/972 Benign synonymous-codon rs72549415 chr1 237566759 C T RYR2 0.0037/7 Benign missense rs56229512 chr1 237591776 G G RYR2 0.0096/20 Benign missense rs121918598 chr1 237648523 G C RYR2 Pathogenic missense rs121918599 chr1 237784024 C G RYR2 Pathogenic missense rs121918606 chr1 237819181 C G RYR2 Pathogenic missense rs200796606 chr1 241502552 G G FH Pathogenic missense rs398123160 chr1 241502553 A A FH Pathogenic stop-gained rs121913123 chr1 241508643 G A,T FH Pathogenic missense rs121913121 chr1 241513661 T G FH Pathogenic missense rs121908150 chr1 247424227 G T NLRP3 Pathogenic missense,stop-gained rs387906751 chr10 4991861 T G LOC101928051,AKR1C2 Pathogenic missense,upstream-variant-2KB rs387906750 chr10 5001531 G C AKR1C2 Pathogenic missense rs11258194 chr10 13110400 G A OPTN 0.0680/147 Pathogenic missense rs104894174 chr10 13283694 G T PHYH Pathogenic missense rs104894178 chr10 13283695 G A PHYH Pathogenic missense,synonymous-codon rs1747682 chr10 13295588 T A PHYH 0.0234/51 Benign synonymous-codon,utr-variant-5-prime rs7076862 chr10 14934415 A A DCLRE1C 0.4105/893 Benign missense,nc-transcript-variant rs121434430 chr10 17041160 G A CUBN Pathogenic missense rs71535732 chr10 20815684 G C NEBL 0.0381/83 Benign intron-variant,missense,nc-transcript-variant rs4025981 chr10 20850460 T C NEBL 0.0464/100 Benign intron-variant,missense,nc-transcript-variant rs12257119 chr10 25997230 G T MYO3A 0.0771/168 Benign synonymous-codon rs35010955 chr10 26021541 G T MYO3A 0.0556/121 Benign synonymous-codon rs3824700 chr10 26066977 T A MYO3A 0.3985/868 Benign missense rs35379457 chr10 26068818 G T MYO3A 0.3136/682 Benign synonymous-codon rs3817420 chr10 26068819 T A MYO3A 0.3811/830 Benign missense rs33947968 chr10 26145526 C T MYO3A 0.0432/94 Benign missense rs3758449 chr10 26157383 T A MYO3A 0.4578/996 Benign missense rs193919333 chr10 26168729 C G MYO3A Pathogenic stop-gained rs3740232 chr10 26173861 G A MYO3A 0.3209/699 Benign synonymous-codon rs34151474 chr10 26174514 T T MYO3A 0.0037/7 Benign missense rs119463988 chr10 26735477 G G PDSS1 Pathogenic missense,nc-transcript-variant rs387906832 chr10 27509877 G A RAB18 Pathogenic missense,nc-transcript-variant rs267606900 chr10 30313926 C C MTPAP Pathogenic missense rs80194531 chr10 31461211 T C ZEB1 0.0124/27 Pathogenic intron-variant,missense,utr-variant-5-prime rs75234356 chr10 43120144 C G RET Pathogenic missense rs267607011 chr10 43120184 C G,T RET Pathogenic missense rs1800863 chr10 43120185 T G RET 0.1602/349 Benign synonymous-codon rs78347871 chr10 43121950 G A,C,T RET Pathogenic missense rs74799832 chr10 43121968 G C RET Pathogenic missense rs10993994 chr10 46046326 T G MSMB 0.4734/1030 Pathogenic upstream-variant-2KB rs2228527 chr10 49470323 G C ERCC6 0.1630/355 Benign missense rs2228526 chr10 49470671 G C ERCC6 0.1566/341 Benign missense rs4253208 chr10 49470676 G C ERCC6 0.0087/19 Pathogenic missense rs121917901 chr10 49478437 T A ERCC6 Pathogenic stop-gained rs121917902 chr10 49524073 G A ERCC6-PGBD3,ERCC6,PGBD3 Pathogenic stop-gained,utr-variant-5-prime rs8178990 chr10 49622125 T T CHAT 0.0367/79 Benign missense rs121912817 chr10 49651888 T T CHAT Pathogenic missense rs11003863 chr10 53809212 C G PCDH15 0.3136/682 Benign intron-variant,missense,utr-variant-3-prime rs112097891 chr10 53822176 G T PCDH15 0.0032/7 Benign intron-variant,synonymous-codon rs16937781 chr10 53822842 G G PCDH15 0.0028/5 Benign intron-variant,synonymous-codon rs61731387 chr10 53831493 A T PCDH15 0.0055/11 Benign missense,stop-gained rs147835286 chr10 53866827 A T PCDH15 0.0051/11 Benign missense rs202033121 chr10 53938872 A A PCDH15 Pathogenic missense,synonymous-codon rs137853004 chr10 54090041 A C PCDH15 Pathogenic intron-variant,stop-gained rs111033436 chr10 54213995 T A PCDH15 0.0023/4 Benign missense rs137853002 chr10 54317362 C T PCDH15 Pathogenic missense rs137853003 chr10 54369194 C C PCDH15 Pathogenic missense rs11004439 chr10 54664208 G C PCDH15 0.2084/453 Benign missense rs12261793 chr10 60055954 T C ANK3 0.0253/54 Benign missense rs10821668 chr10 60071513 T C ANK3 0.1460/318 Benign intron-variant,missense rs61732398 chr10 60073166 T G ANK3 0.0073/16 Benign intron-variant,missense rs148904927 chr10 60073656 C G ANK3 0.0051/11 Benign intron-variant,missense rs104894158 chr10 62813835 T T EGR2 Pathogenic missense rs140148105 chr10 68121497 T G MYPN 0.0009/2 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs10509305 chr10 68885620 G C STOX1 0.1437/313 Pathogenic intron-variant,missense rs137853249 chr10 69384348 G C HK1 Pathogenic missense rs121913015 chr10 70883973 T A PCBD1 Pathogenic intron-variant,stop-gained rs2277257 chr10 71322806 G G SLC29A3 0.4504/980 Benign missense,nc-transcript-variant,utr-variant-5-prime rs77339410 chr10 71344212 A C SLC29A3 0.0165/35 Benign intron-variant,missense rs16928737 chr10 71351775 G A SLC29A3 0.0294/64 Benign intron-variant,nc-transcript-variant,synonymous-codon rs121908354 chr10 71570884 T T LOC101929085,CDH23 0.0005/1 Pathogenic intron-variant,missense rs111033369 chr10 71646475 T A CDH23 0.0023/4 Benign missense rs2305209 chr10 71646747 T C CDH23 0.1175/255 Benign intron-variant,synonymous-codon rs41281310 chr10 71712737 C G C10orf105,CDH23 0.0018/4 Benign missense,utr-variant-3-prime rs149073355 chr10 71732116 T G C10orf105,CDH23 0.0018/4 Benign intron-variant,missense rs41281318 chr10 71732316 G T C10orf105,CDH23 0.0028/5 Benign intron-variant,missense rs121918104 chr10 71825892 A G PSAP Pathogenic missense rs71579353 chr10 74082499 T A VCL Pathogenic missense rs2228373 chr10 74094424 T A VCL 0.0560/122 Benign synonymous-codon rs397514454 chr10 74200787 A A ADK Pathogenic missense rs397514452 chr10 74670258 A A ADK Pathogenic missense rs199470473 chr10 75028626 G T KAT6B Pathogenic stop-gained rs199470484 chr10 75030213 G T KAT6B Pathogenic stop-gained rs77280228 chr10 76953894 T G KCNMA1 0.0142/30 Benign synonymous-codon rs74140280 chr10 77079496 A A KCNMA1 0.0197/43 Benign synonymous-codon rs267608681 chr10 77993294 T T POLR3A Pathogenic missense rs267608679 chr10 78004792 A T POLR3A Pathogenic missense rs267608668 chr10 78009960 A C POLR3A Pathogenic missense rs104894189 chr10 78035394 G T RPS24 Pathogenic nc-transcript-variant,stop-gained rs121917737 chr10 79557264 C A SFTPA2 Pathogenic missense rs118204006 chr10 80274599 G T MAT1A Pathogenic missense rs72558181 chr10 80275177 G T MAT1A Pathogenic missense rs118204005 chr10 80275178 G A MAT1A Pathogenic missense rs118204002 chr10 80285517 C T MAT1A Pathogenic missense rs121908334 chr10 86687218 C T LDB3 Pathogenic intron-variant,missense rs199476087 chr10 86899830 G C BMPR1A Pathogenic missense rs199476086 chr10 86919316 T A BMPR1A Pathogenic missense rs199476089 chr10 86923442 G C BMPR1A Pathogenic missense rs121909732 chr10 87053398 T G GLUD1 Pathogenic missense rs121909731 chr10 87057692 A A GLUD1 Pathogenic missense rs121909735 chr10 87060928 C G GLUD1 Pathogenic missense rs121909736 chr10 87061021 T T GLUD1 Pathogenic missense rs9421572 chr10 87061032 A C GLUD1 0.2163/470 Benign synonymous-codon rs104894171 chr10 87508507 A G MINPP1 Pathogenic missense rs121908951 chr10 87709311 A G PAPSS2 Pathogenic missense rs121908952 chr10 87727403 G T PAPSS2 Pathogenic stop-gained rs121908950 chr10 87743589 A A PAPSS2 Pathogenic stop-gained rs121909225 chr10 87894049 G G PTEN Pathogenic missense rs150651961 chr10 87894077 G T PTEN Benign synonymous-codon rs121909230 chr10 87933094 A C PTEN Pathogenic missense rs121909222 chr10 87933127 C G PTEN Pathogenic missense rs121909223 chr10 87933129 G C PTEN Pathogenic missense rs121909218 chr10 87933145 A A PTEN Pathogenic missense rs121909224 chr10 87933147 G G,T PTEN Pathogenic missense,stop-gained rs121909229 chr10 87933148 A A PTEN Pathogenic missense rs397514560 chr10 87933151 T T PTEN Pathogenic missense rs121909241 chr10 87933154 T A,T PTEN Pathogenic missense rs397514559 chr10 87952125 T A PTEN Pathogenic missense rs121909221 chr10 87952135 C A PTEN Pathogenic missense rs121909227 chr10 87957858 A T PTEN Pathogenic stop-gained rs121909240 chr10 87957940 T C PTEN Pathogenic missense rs121909239 chr10 87957973 T G PTEN Pathogenic missense rs121913078 chr10 89008915 G T FAS Pathogenic intron-variant,missense rs121913080 chr10 89014191 A C FAS Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs121913081 chr10 89014251 A T FAS Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs121913077 chr10 89014259 A T FAS Pathogenic nc-transcript-variant,stop-gained,utr-variant-3-prime rs121909386 chr10 89438899 A A SLC16A12 Pathogenic stop-gained rs387906642 chr10 92649894 G T KIF11 Pathogenic missense rs387906401 chr10 93620784 G C PDE6C Pathogenic missense rs267606937 chr10 93622034 G T PDE6C Pathogenic stop-gained rs121918539 chr10 93635590 T G PDE6C Pathogenic missense rs267606934 chr10 93640987 T T PDE6C Pathogenic missense rs267606935 chr10 93663117 G A PDE6C Pathogenic stop-gained rs104894166 chr10 93758280 G C LOC101927013,LGI1 Pathogenic missense,upstream-variant-2KB rs104894167 chr10 93793207 G C LGI1 Pathogenic missense rs28937874 chr10 93797277 A C LGI1 Pathogenic intron-variant,missense rs121912601 chr10 94132444 G T PLCE1 Pathogenic stop-gained rs121912605 chr10 94270547 G T PLCE1 Pathogenic missense rs267606953 chr10 94322006 G T PLCE1 Pathogenic stop-gained rs1057910 chr10 94981296 T C CYP2C9 0.0422/92 drug-response missense rs387907273 chr10 95682776 C A TCTN3 Pathogenic stop-gained rs10786229 chr10 95687616 G T TCTN3 0.4366/950 Benign intron-variant,synonymous-codon rs75060573 chr10 97744838 T A ZFYVE27 0.0096/20 Benign intron-variant,synonymous-codon rs121908386 chr10 98435273 C A,T HPS1 Pathogenic intron-variant,stop-gained,utr-variant-5-prime rs281865076 chr10 98435279 G A HPS1 Pathogenic intron-variant,missense,synonymous-codon,utr-variant-5-prime rs267606865 chr10 99144391 A A HPSE2 Pathogenic intron-variant,stop-gained,utr-variant-5-prime rs397514662 chr10 99716419 G G COX15 Pathogenic missense rs72558199 chr10 99832069 G T ABCC2 Pathogenic stop-gained rs72558201 chr10 99836193 T T ABCC2 Pathogenic missense rs267606736 chr10 100205167 T A CHUK Pathogenic nc-transcript-variant,stop-gained rs17112787 chr10 100246924 G T CWF19L1 0.1065/232 Benign synonymous-codon rs137852956 chr10 100989118 G A C10orf2,MRPL43 Pathogenic intron-variant,missense,nc-transcript-variant,upstream-variant-2KB rs111033576 chr10 100989271 T C C10orf2,MRPL43 Pathogenic intron-variant,missense,nc-transcript-variant,upstream-variant-2KB rs111033579 chr10 100989316 T A,T C10orf2,MRPL43 Pathogenic intron-variant,missense,nc-transcript-variant,upstream-variant-2KB rs111033577 chr10 100989352 G C,G C10orf2,MRPL43 Pathogenic intron-variant,missense,nc-transcript-variant,upstream-variant-2KB rs80356541 chr10 100989687 C T C10orf2 Pathogenic intron-variant,nc-transcript-variant,synonymous-codon,utr-variant-5-prime rs111033574 chr10 100989822 G T C10orf2 Pathogenic missense,nc-transcript-variant rs111033572 chr10 100989823 C C C10orf2 Pathogenic missense,nc-transcript-variant rs80356540 chr10 100990474 T G C10orf2 Pathogenic missense,nc-transcript-variant rs104894145 chr10 102830946 G A LOC102724307,CYP17A1 Pathogenic missense,upstream-variant-2KB rs104894155 chr10 102830982 G T LOC102724307,CYP17A1 Pathogenic missense,upstream-variant-2KB rs104894149 chr10 102832611 G A LOC102724307,CYP17A1 Pathogenic missense,upstream-variant-2KB rs104894137 chr10 102832626 T T LOC102724307,CYP17A1 Pathogenic missense,upstream-variant-2KB rs104894144 chr10 102832665 G C,T LOC102724307,CYP17A1 0.0005/1 Pathogenic missense,upstream-variant-2KB rs104894135 chr10 102835374 C G CYP17A1 Pathogenic missense rs387906975 chr10 103049788 C T CNNM2 Pathogenic missense rs121912770 chr10 104038409 C A COL17A1 Pathogenic stop-gained rs121912774 chr10 104072062 A A COL17A1 Pathogenic stop-gained rs61735268 chr10 110781304 C A RBM20 0.0193/41 Benign missense rs1417635 chr10 110812700 G G,T RBM20 0.0009/2 Benign missense rs267607048 chr10 110964362 G G SHOC2 Pathogenic missense rs367932369 chr10 119157870 G T SFXN4 Pathogenic splice-donor-variant rs121918312 chr10 119672373 G T BAG3 Pathogenic missense rs121918508 chr10 121488035 G T FGFR2 Pathogenic missense,nc-transcript-variant rs121918509 chr10 121488095 T T FGFR2 Pathogenic missense,nc-transcript-variant rs121918506 chr10 121496701 C G FGFR2 Pathogenic missense,nc-transcript-variant rs121918507 chr10 121498591 C C FGFR2 Pathogenic missense,nc-transcript-variant rs387906677 chr10 121515232 T C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918490 chr10 121517342 A C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918502 chr10 121517351 A C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918491 chr10 121517371 G T FGFR2 Pathogenic intron-variant,nc-transcript-variant,synonymous-codon rs121918492 chr10 121517372 C C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918496 chr10 121517377 C C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918493 chr10 121517420 A C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918510 chr10 121517441 C G FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121918500 chr10 121520044 G C FGFR2 Pathogenic intron-variant,missense,nc-transcript-variant rs121965058 chr10 124397986 A A OAT Pathogenic stop-gained rs121965043 chr10 124398057 G G OAT 0.0009/2 Pathogenic missense rs121965055 chr10 124398061 A A OAT Pathogenic stop-gained rs121965036 chr10 124398076 T A OAT Pathogenic stop-gained rs121965054 chr10 124398082 C G OAT Pathogenic missense rs121965053 chr10 124400941 C T OAT Pathogenic missense rs267606924 chr10 124403003 A T OAT Pathogenic stop-gained rs121965041 chr10 124403019 C G OAT Pathogenic missense rs121965059 chr10 124403892 C A OAT Pathogenic missense rs121965056 chr10 124405457 T T OAT Pathogenic stop-gained rs121965050 chr10 124405534 A T OAT Pathogenic missense rs121965037 chr10 124412009 G G OAT Pathogenic intron-variant,missense rs121965048 chr10 124412010 T T OAT Pathogenic intron-variant,missense rs397515528 chr10 125812222 C A UROS Pathogenic missense,nc-transcript-variant rs121908013 chr10 125815120 G A UROS Pathogenic missense,nc-transcript-variant rs397515527 chr10 125816185 G G UROS Pathogenic missense,nc-transcript-variant rs397515349 chr10 125816708 C T UROS Pathogenic intron-variant,upstream-variant-2KB rs397515350 chr10 125816718 C T UROS Pathogenic intron-variant,upstream-variant-2KB rs397515351 chr10 125816722 T T UROS Pathogenic intron-variant,upstream-variant-2KB rs121912789 chr11 1757343 G T CTSD Pathogenic missense rs121434638 chr11 1933737 T A TNNT3 Pathogenic missense rs397515519 chr11 2159793 T C INS,INS-IGF2 Pathogenic intron-variant,utr-variant-3-prime rs80356672 chr11 2159862 A C INS,INS-IGF2 Pathogenic intron-variant,missense rs80356671 chr11 2159898 A G,T INS,INS-IGF2 Pathogenic intron-variant,missense rs121918102 chr11 2159911 A A INS,INS-IGF2 Pathogenic intron-variant,missense rs199472682 chr11 2445479 G A KCNQ1 Pathogenic missense rs199472702 chr11 2570754 G A,C KCNQ1 Pathogenic missense rs199472722 chr11 2572846 A A,C KCNQ1 Pathogenic missense rs199473460 chr11 2572862 G C KCNQ1 Pathogenic missense rs199473461 chr11 2572894 C C KCNQ1 Pathogenic missense rs199472730 chr11 2572895 G G,T KCNQ1 Pathogenic missense rs199472731 chr11 2572897 A C KCNQ1 Pathogenic missense rs199473462 chr11 2572904 G A KCNQ1 Pathogenic missense rs199472732 chr11 2572907 C G KCNQ1 Pathogenic missense rs199472733 chr11 2572910 G C KCNQ1 Pathogenic missense rs199472757 chr11 2583516 T C KCNQ1 Benign missense rs199472758 chr11 2583526 C T KCNQ1 Pathogenic missense rs199473478 chr11 2768879 T C KCNQ1 Pathogenic missense rs17215500 chr11 2768881 G G,T KCNQ1 Pathogenic missense,stop-gained rs145974930 chr11 2768882 A A,C KCNQ1 Pathogenic missense rs199472787 chr11 2768884 G T KCNQ1 Pathogenic missense rs199472788 chr11 2768885 C A KCNQ1 Benign missense rs199473479 chr11 2768888 G G KCNQ1 Pathogenic missense rs199472789 chr11 2768894 C C KCNQ1 Pathogenic missense rs199472790 chr11 2768900 G G KCNQ1 Pathogenic missense rs120074188 chr11 2768902 C A KCNQ1 Pathogenic missense rs199472791 chr11 2768903 C T KCNQ1 Pathogenic missense rs199472792 chr11 2768905 A G KCNQ1 Pathogenic missense rs199472816 chr11 2778029 A A KCNQ1 Pathogenic missense rs387907226 chr11 2884123 G C CDKN1C Pathogenic missense,synonymous-codon rs397515436 chr11 3967628 A A STIM1 Pathogenic missense rs397514675 chr11 3967663 T G STIM1 Pathogenic missense rs397514676 chr11 4023927 A A STIM1 Pathogenic missense rs397514677 chr11 4023928 T G STIM1 Pathogenic missense rs33945777 chr11 5226576 C A,G,T HBB Pathogenic splice-donor-variant rs33914944 chr11 5226577 C A,G HBB Pathogenic missense rs33958358 chr11 5227018 C A,T HBB Pathogenic missense rs33930702 chr11 5227019 A A,G,T HBB Pathogenic missense rs35324967 chr11 5232765 T T HBD Pathogenic downstream-variant-500B rs281860601 chr11 5249971 G A HBG1 Pathogenic upstream-variant-2KB rs34474104 chr11 5254417 T A HBG2 Pathogenic missense rs34878913 chr11 5254482 A G HBG2 Pathogenic missense rs34809449 chr11 5254895 G A,C,T HBG2 Pathogenic upstream-variant-2KB rs63750654 chr11 5254956 T G HBG2 Pathogenic upstream-variant-2KB rs120074125 chr11 6393301 G G SMPD1 Pathogenic missense rs120074126 chr11 6393620 A T SMPD1 Pathogenic missense rs267607073 chr11 6393667 T A SMPD1 Pathogenic missense rs120074127 chr11 6393680 G G,T SMPD1 Pathogenic stop-gained rs267607074 chr11 6393961 T C SMPD1 Pathogenic missense rs120074117 chr11 6394204 T T SMPD1 Pathogenic missense rs119455955 chr11 6617040 C A TPP1 Pathogenic stop-gained rs2555170 chr11 6617368 T C TPP1 0.0376/81 Benign synonymous-codon rs120074137 chr11 9847015 C A RP11-1H15.2,SBF2 Pathogenic intron-variant,stop-gained rs120074139 chr11 9968482 C A SBF2 Pathogenic stop-gained rs11567847 chr11 12937202 A C TEAD1 Pathogenic missense rs61495246 chr11 14885847 G G CYP2R1 0.0009/2 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs193929358 chr11 17387091 C T KCNJ11 Pathogenic missense rs193929356 chr11 17387103 A C KCNJ11 Pathogenic missense rs104894248 chr11 17387316 G C KCNJ11 Pathogenic missense rs387906398 chr11 17388225 T A KCNJ11 Pathogenic intron-variant,utr-variant-5-prime rs80356651 chr11 17453151 A T ABCC8 Pathogenic missense rs10832796 chr11 17501091 A A USH1C 0.2227/484 Benign synonymous-codon rs151045328 chr11 17531431 A T USH1C Pathogenic synonymous-codon rs75157409 chr11 17533258 G C USH1C 0.0051/11 Benign missense rs121908370 chr11 17533268 C A USH1C Pathogenic stop-gained rs397514608 chr11 17613696 G T OTOG Pathogenic stop-gained rs61884288 chr11 18281986 T A HPS5 0.0156/34 Pathogenic missense rs281865104 chr11 18287659 A A HPS5 Pathogenic missense,synonymous-codon rs13451 chr11 19186294 G T CSRP3 0.0514/111 Benign synonymous-codon rs104894204 chr11 19188245 G C CSRP3 Pathogenic missense rs121908494 chr11 20628056 C G SLC6A5 Pathogenic missense rs121908495 chr11 20638477 A T SLC6A5 Pathogenic stop-gained rs4312063 chr11 22221183 G C ANO5 0.2424/527 Benign synonymous-codon rs78266558 chr11 22227554 C G ANO5 0.0152/32 Benign missense rs78899595 chr11 22250756 C T ANO5 0.0087/19 Benign synonymous-codon rs119103234 chr11 22250793 G C,G ANO5 Pathogenic missense rs137854524 chr11 22255485 T G ANO5 Pathogenic missense rs397514736 chr11 22259652 A T ANO5 Pathogenic missense rs121907927 chr11 31794072 T G PAX6 Pathogenic missense rs121907917 chr11 31794079 G A PAX6 Pathogenic stop-gained rs121907918 chr11 31800832 A A PAX6 Pathogenic missense,utr-variant-5-prime rs121907919 chr11 31800837 C T PAX6 Pathogenic missense,utr-variant-5-prime rs398123295 chr11 31801560 G T PAX6 Pathogenic intron-variant,splice-donor-variant,utr-variant-5-prime rs121907928 chr11 31801561 C T PAX6 Pathogenic intron-variant,missense,utr-variant-5-prime rs121907914 chr11 31801611 G A PAX6 Pathogenic intron-variant,stop-gained,utr-variant-5-prime rs28942089 chr11 32392672 T A WT1 Pathogenic missense rs121907905 chr11 32392723 G C WT1 Pathogenic missense rs121907904 chr11 32396313 A T WT1 Pathogenic missense rs397514767 chr11 33710247 A T CD59 Pathogenic missense rs104894292 chr11 36574590 T G RAG1 Pathogenic missense rs104894285 chr11 36574985 G T RAG1 Pathogenic missense rs104894284 chr11 36574986 C A RAG1 Pathogenic missense rs104894287 chr11 36575825 G T RAG1 Pathogenic missense rs104894290 chr11 36576039 C G RAG1 Pathogenic missense rs104894288 chr11 36576246 G C RAG1 Pathogenic missense rs121918573 chr11 36592736 A T C11orf74,RAG2 Pathogenic missense,upstream-variant-2KB rs121917894 chr11 36593483 G T C11orf74,RAG2 Pathogenic missense,upstream-variant-2KB rs119489103 chr11 45898159 C A MAPK8IP1 Pathogenic missense rs121918480 chr11 46739341 C T F2 Pathogenic missense,nc-transcript-variant rs267607221 chr11 46899455 A T LRP4 Pathogenic missense rs121434641 chr11 47235326 G T DDB2 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs397516037 chr11 47332189 C A MYBPC3 Pathogenic stop-gained rs397515937 chr11 47339792 G C MYBPC3 Pathogenic splice-acceptor-variant rs397515907 chr11 47342697 G T MYBPC3 Pathogenic missense rs375882485 chr11 47342698 G A MYBPC3 Pathogenic missense,synonymous-codon rs397515891 chr11 47343264 G C MYBPC3 Pathogenic splice-acceptor-variant rs397516067 chr11 47348542 T T MYBPC3 Pathogenic splice-acceptor-variant rs28939714 chr11 47582140 C T NDUFS3 Pathogenic missense rs121434322 chr11 59843998 A A GIF Pathogenic missense rs387907134 chr11 61367998 G A TMEM138 Pathogenic downstream-variant-500B,missense,nc-transcript-variant rs387907135 chr11 61368609 C G TMEM138 Pathogenic downstream-variant-500B,missense,nc-transcript-variant rs28940275 chr11 61951822 C C BEST1 Pathogenic intron-variant,missense,nc-transcript-variant rs121918285 chr11 61951893 A G,T BEST1 Pathogenic intron-variant,nc-transcript-variant,stop-gained,synonymous-codon rs121918288 chr11 61951928 C C BEST1 Pathogenic intron-variant,missense,nc-transcript-variant rs28940278 chr11 61951946 C A BEST1 Pathogenic intron-variant,missense,nc-transcript-variant rs28941469 chr11 61957429 A A BEST1 Pathogenic missense,nc-transcript-variant rs267606677 chr11 61957430 C G BEST1 Pathogenic missense,nc-transcript-variant rs267606676 chr11 61957432 A A BEST1 Pathogenic missense,nc-transcript-variant rs267606679 chr11 61957454 G C BEST1 Pathogenic missense,nc-transcript-variant rs387906549 chr11 61967589 G A FTH1,LOC399900 Pathogenic upstream-variant-2KB,utr-variant-5-prime rs137852975 chr11 62692671 T A HNRNPUL2-BSCL2,BSCL2 Pathogenic nc-transcript-variant,stop-gained rs119103255 chr11 64751966 T A PYGM Pathogenic stop-gained rs119103260 chr11 64751970 T C,G PYGM Pathogenic stop-gained rs386134260 chr11 64806345 T C MEN1 Pathogenic stop-gained rs61736636 chr11 64809675 C A MEN1 0.0147/32 Benign synonymous-codon rs119489101 chr11 65871355 G T EFEMP2 Pathogenic missense,nc-transcript-variant rs398123009 chr11 66211206 G T PACS1 Pathogenic missense rs572697 chr11 66234199 G A PACS1 0.0129/27 Benign intron-variant,synonymous-codon rs34775878 chr11 66714162 T A SPTBN2 0.0528/114 Benign synonymous-codon rs121913659 chr11 67612225 G T NDUFV1 Pathogenic missense rs80356778 chr11 68780737 C C CPT1A Pathogenic missense rs80356790 chr11 68781882 C A CPT1A Pathogenic missense rs80356796 chr11 68793336 G C CPT1A Pathogenic missense rs80356776 chr11 68793341 T A CPT1A Pathogenic missense rs191107774 chr11 68812436 G T CPT1A 0.0005/1 Pathogenic splice-donor-variant rs80356786 chr11 68815379 T C CPT1A Pathogenic stop-gained rs137852669 chr11 68911599 A G IGHMBP2 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs137852667 chr11 68935404 T A IGHMBP2 Pathogenic missense rs35264875 chr11 69078931 T T TPCN2 0.1015/220 Pathogenic missense,nc-transcript-variant rs121909765 chr11 71437909 T A DHCR7 Pathogenic missense rs398123607 chr11 71437934 G T DHCR7 Pathogenic missense rs121909766 chr11 71437936 A C DHCR7 Pathogenic missense rs80338863 chr11 71437944 T G DHCR7 Pathogenic splice-acceptor-variant rs949177 chr11 71441415 T C,G DHCR7 0.1281/278 Benign missense,synonymous-codon rs28938174 chr11 71442319 G A DHCR7 Pathogenic missense rs121908441 chr11 74457268 G T KCNE3 0.0014/2 Pathogenic missense rs121965080 chr11 77156903 G T MYO7A Pathogenic missense rs28934610 chr11 77156904 T A MYO7A Pathogenic missense rs111033283 chr11 77156909 G A MYO7A Pathogenic missense rs201539845 chr11 77156921 A A MYO7A Pathogenic missense rs397516295 chr11 77179044 G T MYO7A Pathogenic splice-acceptor-variant rs397516315 chr11 77199787 G A MYO7A Pathogenic stop-gained rs111033192 chr11 77207370 G A,T MYO7A Pathogenic missense,stop-gained rs665278 chr11 78114274 T C ALG8 0.1524/331 Benign missense,nc-transcript-variant rs121908293 chr11 78127393 G A,G ALG8 Pathogenic missense,nc-transcript-variant rs80358293 chr11 86951732 T C FZD4 0.0005/1 Pathogenic missense rs104894211 chr11 88294358 A C CTSC Pathogenic missense rs104894208 chr11 88296165 G C CTSC Pathogenic missense rs28940881 chr11 89177954 T G TYR Pathogenic missense rs28940879 chr11 89178117 T A,C TYR 0.0005/1 Pathogenic missense rs28940877 chr11 89178218 G C TYR Pathogenic missense rs61754360 chr11 89178486 G A TYR Pathogenic stop-gained rs61754363 chr11 89178599 T A TYR Pathogenic missense rs61754367 chr11 89178660 G A,C TYR Pathogenic missense,stop-gained rs61754375 chr11 89191278 T A TYR 0.0005/1 Pathogenic missense rs61754387 chr11 89227898 T C TYR Pathogenic missense rs61754388 chr11 89227904 A A TYR Pathogenic missense rs104894315 chr11 89227932 G A,T TYR Pathogenic missense rs121908011 chr11 89227933 A A TYR Pathogenic missense rs104894313 chr11 89284805 T T TYR Pathogenic missense rs61754393 chr11 89284853 G A TYR Pathogenic missense rs104894317 chr11 89284924 G A TYR Pathogenic missense rs104894318 chr11 89284930 A A,C TYR Pathogenic missense rs16919376 chr11 93788092 G C MED17 0.0432/94 Benign nc-transcript-variant,synonymous-codon rs34057693 chr11 93796489 G A MED17 0.1208/263 Benign nc-transcript-variant,synonymous-codon rs267607232 chr11 93796509 A C MED17 Pathogenic missense,nc-transcript-variant rs34380494 chr11 93807533 T G MED17 0.0142/30 Benign nc-transcript-variant,synonymous-codon rs16919389 chr11 93807599 C C MED17 0.0326/70 Benign nc-transcript-variant,synonymous-codon rs137852759 chr11 94437206 G A,T MRE11A Pathogenic stop-gained rs137852760 chr11 94479726 T C MRE11A Pathogenic missense,utr-variant-5-prime rs387906977 chr11 95812970 G T CEP57 Pathogenic stop-gained rs121434403 chr11 95849841 A A MTMR2 Pathogenic stop-gained rs121434395 chr11 101453062 A T TRPC6 Pathogenic missense rs121434394 chr11 101453068 G A TRPC6 Pathogenic missense rs121434393 chr11 101453674 A A TRPC6 Pathogenic stop-gained rs121434392 chr11 101504161 G T TRPC6 Pathogenic missense rs121434391 chr11 101504541 T C TRPC6 ?/0 Pathogenic missense rs121434390 chr11 101504634 G T TRPC6 Pathogenic missense rs121909497 chr11 102955390 A G MMP13 Pathogenic missense rs121909498 chr11 102955393 A G MMP13 Pathogenic missense rs397514637 chr11 103117852 G T DYNC2H1 Pathogenic missense rs137853030 chr11 103125197 G T DYNC2H1 Pathogenic missense rs137853025 chr11 103177652 T T DYNC2H1 Pathogenic missense rs586592 chr11 103187397 T T DYNC2H1 0.3806/828 Benign synonymous-codon rs397514636 chr11 103191565 C T DYNC2H1 Pathogenic missense rs137853029 chr11 103245374 G T DYNC2H1 Pathogenic stop-gained rs137853026 chr11 103304601 T G DYNC2H1 0.0005/1 Pathogenic missense rs120074145 chr11 108134260 T G ACAT1 Pathogenic missense rs120074148 chr11 108135240 A G ACAT1 0.0005/1 Pathogenic missense rs35188041 chr11 108138933 A A,G ACAT1 0.1249/271 Benign synonymous-codon rs148639841 chr11 108138934 A G ACAT1 Pathogenic missense rs120074147 chr11 108144039 C C ACAT1 Pathogenic missense rs120074143 chr11 108146332 A T ACAT1 Pathogenic missense rs120074140 chr11 108146334 C A ACAT1 Pathogenic missense rs55861249 chr11 108227806 G A,T ATM Pathogenic stop-gained rs2235003 chr11 108244113 G C ATM 0.0147/32 Benign synonymous-codon rs1137887 chr11 108256340 G A,C ATM Pathogenic missense,synonymous-codon rs397514577 chr11 108317374 C A ATM Pathogenic missense rs121434221 chr11 108329199 A G ATM Pathogenic missense rs28904921 chr11 108329202 A G ATM Pathogenic missense rs121434220 chr11 108330233 G T ATM Pathogenic stop-gained rs28942103 chr11 108334988 T G C11orf65,ATM Pathogenic intron-variant,missense rs121918379 chr11 110231889 G T RDX Pathogenic missense rs121908022 chr11 111836179 T T ALG9 Pathogenic missense rs17113312 chr11 111853674 A A ALG9 0.0069/14 Benign missense rs104894305 chr11 112087899 A A TIMM8B,SDHD Pathogenic intron-variant,nc-transcript-variant,stop-gained,upstream-variant-2KB rs104894303 chr11 112087910 A T TIMM8B,SDHD Pathogenic intron-variant,nc-transcript-variant,stop-gained,upstream-variant-2KB rs80338843 chr11 112087916 G T TIMM8B,SDHD Pathogenic intron-variant,nc-transcript-variant,stop-gained,upstream-variant-2KB rs80338847 chr11 112094906 T C SDHD Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs121908984 chr11 112094923 A A SDHD Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs104894278 chr11 112228649 A G PTS Pathogenic missense rs104894275 chr11 112228665 T G PTS Pathogenic missense rs104894277 chr11 112230210 T A PTS Pathogenic missense rs104894280 chr11 112233205 A A PTS 0.0005/1 Pathogenic missense rs104894279 chr11 112233464 C G PTS Pathogenic missense rs121918382 chr11 116832816 A G APOC3 Pathogenic missense rs121912725 chr11 116837035 G A APOA1 Pathogenic stop-gained rs387907310 chr11 117351872 G T CEP164 Pathogenic missense,nc-transcript-variant rs137853579 chr11 117993294 G A IL10RA Pathogenic missense,nc-transcript-variant rs111033580 chr11 118340447 T A,T CD3D Pathogenic missense,stop-gained,synonymous-codon rs387907275 chr11 118503036 G T KMT2A Pathogenic stop-gained rs121908979 chr11 119024957 T A SLC37A4 Pathogenic stop-gained rs121908980 chr11 119025298 C T SLC37A4 Pathogenic missense rs80356490 chr11 119025299 A A SLC37A4 Pathogenic missense rs121908978 chr11 119029287 G T SLC37A4 Pathogenic intron-variant,missense rs118204119 chr11 119089248 T C HMBS Pathogenic missense rs397515329 chr11 119100402 G G DPAGT1 Pathogenic missense rs387907243 chr11 119100777 A T DPAGT1 Pathogenic missense rs397515327 chr11 119100785 C C DPAGT1 Pathogenic missense rs2227987 chr11 119271804 G C CBL 0.0046/10 Benign synonymous-codon rs267606706 chr11 119278181 A C CBL Pathogenic missense rs387906666 chr11 119278182 C G CBL Pathogenic missense rs387906665 chr11 119278256 G C CBL Pathogenic missense rs397507492 chr11 119278271 G C CBL Pathogenic missense rs267606708 chr11 119278541 A A CBL Pathogenic missense rs121908190 chr11 119345516 T G C1QTNF5,MFRP Pathogenic missense,utr-variant-5-prime rs104894281 chr11 119677734 A T PVRL1 Pathogenic missense,stop-gained rs35507522 chr11 121102721 G G TECTA 0.0289/62 Benign missense rs281865415 chr11 121166652 T T TECTA Pathogenic missense rs104894295 chr11 121303461 A A SC5D Pathogenic missense rs104894297 chr11 121303512 T C SC5D Pathogenic missense rs387907052 chr11 124924863 G A HEPACAM Pathogenic missense rs387906997 chr11 125995047 T C CDON Pathogenic missense rs387906996 chr11 125997230 C T CDON Pathogenic missense rs3740912 chr11 126021374 A T CDON 0.4532/986 Benign missense rs267606830 chr11 126277517 C G FOXRED1 Pathogenic missense,nc-transcript-variant rs119462978 chr11 126562850 A A KIRREL3 Pathogenic missense rs59172778 chr11 128839231 T G KCNJ1 0.0051/11 Pathogenic missense rs104894245 chr11 128839644 C C KCNJ1 Pathogenic missense rs104894246 chr11 128839660 C A,C KCNJ1 Pathogenic missense rs104894253 chr11 128839709 G T KCNJ1 Pathogenic missense rs104894251 chr11 128839929 T G,T KCNJ1 Pathogenic missense rs104894250 chr11 128839979 T G KCNJ1 Pathogenic missense rs387906778 chr11 128911745 C G KCNJ5 Pathogenic missense rs397515438 chr11 134145989 C A JAM3 Pathogenic missense rs374317179 chr11 134258518 T A ACAD8 Pathogenic missense rs121908418 chr11 134258589 G C ACAD8 Pathogenic missense rs111033590 chr12 868772 A T WNK1 Pathogenic intron-variant,stop-gained rs104894344 chr12 4370713 A A FGF23 Pathogenic missense rs104894343 chr12 4372622 T G FGF23 Pathogenic missense rs104894342 chr12 4379372 G C FGF23 Pathogenic missense rs199592341 chr12 4685324 G A,C NDUFA9 0.0005/1 Pathogenic missense rs104894354 chr12 4912054 C G KCNA1 Pathogenic missense rs28933383 chr12 4912055 G A,G,T KCNA1 Pathogenic missense rs1048500 chr12 4912062 A C KCNA1 0.4688/1021 Benign missense,stop-gained rs2227910 chr12 4912182 C C KCNA1 0.4252/926 Benign synonymous-codon rs113994117 chr12 4912600 T T KCNA1 Pathogenic missense rs104894352 chr12 4912601 G C KCNA1 Pathogenic missense rs113994118 chr12 4912619 C G KCNA1 Pathogenic missense rs104894358 chr12 4912627 G T KCNA1 Pathogenic stop-gained rs267607353 chr12 6016197 A C VWF Pathogenic missense rs61750581 chr12 6018581 G G VWF Pathogenic missense rs61748497 chr12 6025624 G G VWF Pathogenic missense rs121964894 chr12 6036488 G A VWF Pathogenic missense rs61748478 chr12 6044349 A C VWF Pathogenic missense rs104895225 chr12 6334100 C C TNFRSF1A Pathogenic missense rs104895223 chr12 6334108 A A,G,T TNFRSF1A Pathogenic missense rs104895217 chr12 6334109 G G TNFRSF1A Pathogenic missense rs137852634 chr12 6348981 C A SCNN1A Pathogenic stop-gained rs397514667 chr12 6445445 T A CD27-AS1,CD27 Pathogenic intron-variant,missense rs61752138 chr12 7209700 A G PEX5 Pathogenic missense rs387906945 chr12 7690059 G G GDF3 Pathogenic missense rs387906946 chr12 7690153 G A GDF3 Pathogenic missense rs104894322 chr12 8605227 G C AICDA Pathogenic missense rs1800433 chr12 9079755 A T A2M Benign missense rs16910526 chr12 10118488 T C CLEC7A 0.0340/73 Pathogenic downstream-variant-500B,stop-gained,utr-variant-3-prime rs397515473 chr12 12181118 T C LRP6 Pathogenic missense,nc-transcript-variant rs141212743 chr12 12181337 G T LRP6 Pathogenic missense,nc-transcript-variant rs398122825 chr12 13611828 C T GRIN2B Pathogenic stop-gained rs183501729 chr12 21196975 G T SLCO1B1 0.0009/2 Pathogenic stop-gained rs71581941 chr12 21222355 G T SLCO1B1 0.0051/11 Pathogenic stop-gained rs121918422 chr12 21546421 T C GYS2 Pathogenic missense rs121918421 chr12 21562965 T G GYS2 Pathogenic missense rs121918423 chr12 21604477 T C GYS2 Pathogenic intron-variant,missense rs118203895 chr12 21642032 G T LDHB Pathogenic missense rs118203896 chr12 21643971 G G LDHB Pathogenic missense rs121909304 chr12 21801157 C T ABCC9 Pathogenic missense,utr-variant-3-prime rs387906805 chr12 21805184 T A ABCC9 Pathogenic intron-variant,missense rs387907209 chr12 21842326 G T ABCC9 Pathogenic missense rs387907208 chr12 21842327 A A ABCC9 Pathogenic missense rs387907227 chr12 21842440 G T ABCC9 Pathogenic missense rs387907228 chr12 21842441 A A ABCC9 Pathogenic missense rs35404804 chr12 21842466 A A ABCC9 0.0110/24 Benign missense,synonymous-codon rs387907210 chr12 21844884 A T ABCC9 Pathogenic missense rs387907229 chr12 21845641 T G ABCC9 Pathogenic missense rs2291550 chr12 21848154 T A ABCC9 0.0032/7 Benign synonymous-codon rs61001398 chr12 21887889 T A ABCC9 0.0129/27 Benign synonymous-codon rs387907211 chr12 21908099 C A ABCC9 Pathogenic missense rs138356189 chr12 21915686 T G ABCC9 0.0014/2 Benign synonymous-codon rs387907230 chr12 21933888 G A ABCC9 Pathogenic missense rs104894362 chr12 25209894 A C KRAS Pathogenic missense,utr-variant-3-prime rs104894360 chr12 25209904 C A,C KRAS Pathogenic missense,utr-variant-3-prime rs104894367 chr12 25209907 C C KRAS Pathogenic missense,utr-variant-3-prime rs4362222 chr12 25215528 C C KRAS 0.0005/1 Benign intron-variant,synonymous-codon rs387907206 chr12 25225625 T C KRAS Pathogenic missense rs104894359 chr12 25227346 T G,T KRAS Pathogenic missense rs104894364 chr12 25227351 T A KRAS Pathogenic missense rs104894366 chr12 25245284 G C KRAS Pathogenic missense rs267606985 chr12 27963693 G G PTHLH Pathogenic missense rs118203972 chr12 32598566 G T FGD4 Pathogenic stop-gained,upstream-variant-2KB,utr-variant-5-prime rs118203974 chr12 32601410 G T FGD4 Pathogenic stop-gained rs63749871 chr12 32602217 G C,G FGD4 Pathogenic missense rs118203973 chr12 32625774 G T FGD4 Pathogenic stop-gained rs142742483 chr12 32868981 G G PKP2 0.0060/13 Benign synonymous-codon rs121434420 chr12 32879021 G A PKP2 Pathogenic stop-gained rs121912587 chr12 39332236 T G KIF21A Pathogenic missense,nc-transcript-variant rs121912586 chr12 39332404 G T KIF21A Pathogenic missense,nc-transcript-variant rs121912585 chr12 39332405 T A KIF21A Pathogenic missense,nc-transcript-variant rs267607200 chr12 39332606 A T KIF21A Pathogenic missense,nc-transcript-variant rs121912590 chr12 39332607 T C KIF21A Pathogenic missense,nc-transcript-variant rs121912589 chr12 39332608 A C KIF21A Pathogenic missense,nc-transcript-variant rs121912588 chr12 39358326 T G KIF21A Pathogenic missense,nc-transcript-variant rs34594498 chr12 40252984 G T LRRK2 0.0032/7 Pathogenic missense rs34410987 chr12 40283897 C T LRRK2 0.0018/4 Pathogenic missense rs74163686 chr12 40309225 A C LRRK2 Pathogenic missense rs33949390 chr12 40320043 T A,C LRRK2 0.0051/11 Pathogenic missense rs34637584 chr12 40340400 G A LRRK2 0.0005/1 Pathogenic missense rs935105 chr12 40936809 G C CNTN1 0.1120/243 Benign synonymous-codon rs2229930 chr12 40981060 A G CNTN1 0.0243/53 Benign synonymous-codon rs34326474 chr12 41016821 C A CNTN1 0.0087/19 Benign missense rs281865564 chr12 42464620 C G LOC102723735,PRICKLE1 Pathogenic intron-variant,missense rs113994140 chr12 42469523 G T PRICKLE1 Pathogenic missense rs121908002 chr12 43778238 A T IRAK4 Pathogenic stop-gained rs121909796 chr12 47846743 G A VDR Pathogenic missense rs121912889 chr12 47974234 A C COL2A1 Pathogenic missense rs121918196 chr12 48145096 A T PFKM Pathogenic missense rs387907356 chr12 48981411 G A LOC102723907,WNT1 Pathogenic stop-gained,upstream-variant-2KB rs267607239 chr12 49022332 G A KMT2D Pathogenic stop-gained rs3741622 chr12 49032195 G C KMT2D 0.2461/535 Benign synonymous-codon rs80149580 chr12 49037311 A C KMT2D 0.0092/20 Benign missense rs137853044 chr12 49185161 G T TUBA1A Pathogenic missense rs137853048 chr12 49185176 G G TUBA1A Pathogenic missense rs104894337 chr12 49954647 T G LOC101927318,AQP2 Pathogenic intron-variant,missense rs398123057 chr12 49963495 A G LOC101927318,AQP5 Pathogenic missense,upstream-variant-2KB rs398123056 chr12 49964092 T T LOC101927318,AQP5 Pathogenic missense,upstream-variant-2KB rs121918366 chr12 50992291 A A SLC11A2 Pathogenic missense,nc-transcript-variant rs121918365 chr12 50992810 T G SLC11A2 Pathogenic missense,nc-transcript-variant rs397514738 chr12 51786590 T G SCN8A Pathogenic missense rs12301486 chr12 51794625 A T SCN8A 0.0092/20 Benign synonymous-codon rs202151337 chr12 51806788 A G SCN8A Pathogenic missense rs28933087 chr12 52492669 C C,G KRT6A Pathogenic missense rs60715293 chr12 52519756 G G KRT5 Pathogenic missense rs57890479 chr12 52519774 G A KRT5 Pathogenic missense rs58163069 chr12 52519778 T G KRT5 Pathogenic missense rs137853224 chr12 52677682 C G KRT1 Pathogenic missense rs59429455 chr12 52679785 T T KRT1 Pathogenic missense rs57959072 chr12 52679885 C C,T KRT1 Pathogenic missense rs57758506 chr12 52949556 T T KRT8,KRT18 Pathogenic intron-variant,missense,nc-transcript-variant rs17117879 chr12 55688228 G G ITGA7 0.0064/14 Benign synonymous-codon rs17117883 chr12 55688241 G C ITGA7 0.0390/84 Benign synonymous-codon rs17546153 chr12 57041268 A G MYO1A 0.0179/38 Benign synonymous-codon rs121434441 chr12 57569015 C G KIF5A Pathogenic missense rs387907286 chr12 57576825 A A KIF5A Pathogenic missense rs118204009 chr12 57764147 G T CYP27B1 Pathogenic missense rs118204010 chr12 57764148 A C CYP27B1 Pathogenic missense rs121909485 chr12 57796539 G T TSFM,AVIL Pathogenic downstream-variant-500B,intron-variant,missense,utr-variant-3-prime rs150736997 chr12 63808776 T G TMEM5 Pathogenic missense rs397514695 chr12 63808778 G T TMEM5 Pathogenic stop-gained rs119461975 chr12 64728988 T A GNS Pathogenic stop-gained rs2230291 chr12 64747808 T G,T GNS 0.0579/125 Benign missense,synonymous-codon rs267607216 chr12 65245931 G A LEMD3 Pathogenic stop-gained rs397514485 chr12 66392676 C G GRIP1 Pathogenic splice-donor-variant rs387906535 chr12 69350170 A C LYZ Pathogenic missense rs121913547 chr12 69350192 A C LYZ Pathogenic missense rs121913549 chr12 69350194 T A LYZ Pathogenic missense rs387906536 chr12 69350215 G A,C LYZ Pathogenic missense rs199474722 chr12 76346783 C T BBS10 Pathogenic missense rs137852832 chr12 88077263 C A CEP290 Pathogenic stop-gained rs137852834 chr12 88083936 C A CEP290 Pathogenic stop-gained rs7307793 chr12 88089351 G T CEP290 0.0436/95 Benign missense rs7970228 chr12 88106775 A C CEP290 0.0409/89 Benign missense rs137852835 chr12 88130324 G A CEP290 Pathogenic stop-gained rs121917863 chr12 91051468 T A KERA Pathogenic missense,stop-gained,synonymous-codon rs121917858 chr12 91055542 T C KERA Pathogenic missense rs121917860 chr12 91055762 T A KERA Pathogenic missense,stop-gained rs114939776 chr12 98533182 C C TMPO 0.0110/24 Benign intron-variant,missense rs12316677 chr12 98533889 T A TMPO 0.0083/17 Benign intron-variant,synonymous-codon rs17459334 chr12 98534052 A G TMPO 0.0464/100 Benign intron-variant,missense rs7133258 chr12 98544517 C C TMPO 0.0041/8 Benign intron-variant,missense rs104894375 chr12 98595490 A A SLC25A3 Pathogenic intron-variant,missense rs11568528 chr12 100357445 G A SLC17A8 0.0060/13 Benign synonymous-codon rs397515422 chr12 101644783 G T MYBPC1 Pathogenic stop-gained rs3817552 chr12 101651385 A G MYBPC1 0.1768/385 Benign missense rs7139095 chr12 101670340 C C MYBPC1 0.0326/70 Benign synonymous-codon rs387906658 chr12 101670362 A C MYBPC1 Pathogenic missense rs35333334 chr12 101749181 A A LOC101929005,GNPTAB Pathogenic downstream-variant-500B,stop-gained rs137852897 chr12 101753409 A A GNPTAB Pathogenic stop-gained rs281865019 chr12 101753516 T C GNPTAB Pathogenic missense rs281865037 chr12 101753540 T T GNPTAB Pathogenic splice-acceptor-variant rs142065232 chr12 101757236 A T GNPTAB Pathogenic stop-gained rs281865016 chr12 101757254 A A GNPTAB Pathogenic missense rs281865012 chr12 101760029 C G,T GNPTAB Pathogenic splice-donor-variant rs281865010 chr12 101760119 C C GNPTAB Pathogenic missense rs281865009 chr12 101761171 G A GNPTAB Pathogenic stop-gained rs281865008 chr12 101761201 A A GNPTAB Pathogenic stop-gained rs281865007 chr12 101761209 C C GNPTAB Pathogenic missense rs281865001 chr12 101764200 C C GNPTAB Pathogenic splice-donor-variant rs281865031 chr12 101764201 G T GNPTAB Pathogenic splice-donor-variant rs281864989 chr12 101764721 T A GNPTAB Pathogenic missense rs10778148 chr12 101764985 G C GNPTAB 0.3476/757 Benign synonymous-codon rs281864982 chr12 101765158 A A GNPTAB Pathogenic stop-gained rs281864981 chr12 101766184 A A GNPTAB Pathogenic stop-gained rs281864980 chr12 101766189 A T GNPTAB Pathogenic missense rs281864977 chr12 101768064 G C GNPTAB Pathogenic missense rs398124397 chr12 101768147 A T GNPTAB Pathogenic stop-gained rs281865026 chr12 101770109 A A GNPTAB Pathogenic missense rs200646278 chr12 101770429 A A GNPTAB Pathogenic missense,synonymous-codon rs281864970 chr12 101770518 G A,T GNPTAB Pathogenic missense rs281864969 chr12 101770519 C A GNPTAB Pathogenic stop-gained rs281864968 chr12 101770579 C A GNPTAB Pathogenic stop-gained rs281864959 chr12 101780579 G G GNPTAB Pathogenic missense rs137852896 chr12 101789951 C A GNPTAB Pathogenic stop-gained rs281864953 chr12 101790019 A A GNPTAB Pathogenic missense rs78347057 chr12 101796744 G A,T GNPTAB 0.0124/27 Pathogenic missense,synonymous-codon rs62644499 chr12 102840472 G T PAH Pathogenic missense rs5030857 chr12 102840507 C A PAH 0.0014/2 Pathogenic missense rs5030854 chr12 102843769 A C PAH Pathogenic stop-gained rs62514959 chr12 102844424 A T PAH Pathogenic stop-gained rs62508578 chr12 102844427 A C PAH Pathogenic missense rs62642934 chr12 102846948 T C PAH Pathogenic missense rs62514953 chr12 102852839 A A PAH Pathogenic missense rs62514934 chr12 102855180 C C PAH Pathogenic missense rs62514927 chr12 102855231 A C PAH Pathogenic missense rs77958223 chr12 102855309 C A,G PAH Pathogenic missense rs76296470 chr12 102894756 T A PAH Pathogenic stop-gained rs62516151 chr12 102894826 C T PAH Pathogenic missense rs76394784 chr12 102894883 C A PAH Pathogenic missense rs75193786 chr12 102894893 T C,G,T PAH 0.0005/1 Pathogenic missense rs199475598 chr12 102912794 A C PAH Pathogenic missense rs62642926 chr12 102912842 A C PAH Pathogenic missense rs267608683 chr12 106432361 A A POLR3B Pathogenic missense rs138249161 chr12 106432421 G A POLR3B Pathogenic missense rs10861607 chr12 106444562 C C POLR3B 0.3320/723 Benign synonymous-codon rs17038460 chr12 106454636 C G POLR3B 0.0386/84 Benign missense rs267608687 chr12 106457147 T A POLR3B Pathogenic missense rs267608685 chr12 106463593 A T POLR3B Pathogenic stop-gained,utr-variant-3-prime rs13561 chr12 106509543 G C LOC100287944,POLR3B 0.3370/733 Benign intron-variant,synonymous-codon rs104895295 chr12 109574881 T C MMAB,MVK Pathogenic missense,upstream-variant-2KB rs7957619 chr12 109576074 C A MVK 0.0932/203 Benign missense rs397514570 chr12 109590857 C C MVK Pathogenic missense rs121917789 chr12 109595044 C C MVK Pathogenic missense rs121912633 chr12 109792396 G T TRPV4 0.0005/1 Pathogenic missense rs387906902 chr12 109793560 A T TRPV4 Pathogenic missense rs387906904 chr12 109803009 G A TRPV4 Pathogenic missense rs387906324 chr12 109808308 A T TRPV4 Pathogenic missense rs121912738 chr12 110296666 A A ATP2A2 Pathogenic missense,nc-transcript-variant rs121912733 chr12 110327725 C T ATP2A2 Pathogenic missense,nc-transcript-variant rs387906594 chr12 110340990 T T ATP2A2 Pathogenic missense,nc-transcript-variant rs75714509 chr12 110642292 T G TCTN1 0.0055/11 Benign intron-variant,missense rs104894370 chr12 110919145 C G MYL2 Pathogenic missense rs397507501 chr12 112446385 C G PTPN11 Pathogenic missense rs397507502 chr12 112446393 G A PTPN11 Benign synonymous-codon rs397507505 chr12 112450352 A C,G PTPN11 Pathogenic missense rs397507506 chr12 112450354 A A,G PTPN11 Pathogenic missense rs397507507 chr12 112450358 G A,T PTPN11 Pathogenic missense rs397507509 chr12 112450359 T C,T PTPN11 Pathogenic missense rs397507510 chr12 112450361 A A,C PTPN11 Pathogenic missense rs121918461 chr12 112450362 T G,T PTPN11 Pathogenic missense rs121918460 chr12 112450364 A A,G PTPN11 Pathogenic missense rs121918459 chr12 112450368 T G PTPN11 Pathogenic missense rs121918454 chr12 112450395 C G PTPN11 Pathogenic missense rs397507513 chr12 112450397 C C PTPN11 Pathogenic missense rs121918462 chr12 112450398 T T PTPN11 Pathogenic missense rs397507514 chr12 112450408 T C,T PTPN11 Pathogenic missense rs121918466 chr12 112450416 G G PTPN11 Pathogenic missense rs387907158 chr12 112450475 A T PTPN11 Pathogenic stop-gained rs397507517 chr12 112450497 T C PTPN11 Pathogenic missense rs397507518 chr12 112450508 A A PTPN11 Pathogenic missense rs397507519 chr12 112450509 A C PTPN11 Pathogenic missense rs397507522 chr12 112453348 G T PTPN11 Benign synonymous-codon rs397507523 chr12 112472954 A G PTPN11 Pathogenic missense rs397507525 chr12 112472968 T T PTPN11 Pathogenic missense rs398122862 chr12 112482073 A T PTPN11 Pathogenic splice-acceptor-variant rs397507549 chr12 112489104 A A,G PTPN11 Pathogenic missense rs121918470 chr12 112489105 G C,G PTPN11 Pathogenic missense rs397507550 chr12 112489106 T C PTPN11 Pathogenic missense rs104894381 chr12 114401830 A T TBX5 Pathogenic missense,stop-gained rs104894384 chr12 114401907 T G TBX5 Pathogenic missense rs1154510 chr12 121857429 G C HPD 0.1322/287 Pathogenic missense,utr-variant-5-prime rs113994007 chr12 123624792 A A EIF2B1 Pathogenic missense rs113994006 chr12 123630396 G T EIF2B1 0.0005/1 Pathogenic splice-donor-variant rs73416301 chr12 123672090 A T TCTN2 0.0551/119 Benign synonymous-codon rs112158562 chr12 123707660 T C TCTN2 0.0069/14 Benign intron-variant,synonymous-codon rs80356750 chr12 123718692 G T ATP6V0A2 Pathogenic nc-transcript-variant,stop-gained rs1139789 chr12 123724785 G C ATP6V0A2 0.2576/561 Benign missense,nc-transcript-variant,synonymous-codon rs1399961 chr12 123726235 G C ATP6V0A2 0.2599/565 Benign intron-variant,nc-transcript-variant,synonymous-codon rs398124257 chr12 123735626 G C ATP6V0A2 Pathogenic splice-donor-variant,upstream-variant-2KB rs374480381 chr12 123744785 T A ATP6V0A2 Pathogenic splice-donor-variant rs75279884 chr12 123758010 T G ATP6V0A2 0.0060/13 Benign missense,nc-transcript-variant rs397514704 chr13 20142673 G T GJA3 Pathogenic missense rs397514703 chr13 20143284 C T GJA3 Pathogenic missense rs111033294 chr13 20188965 T C GJB2 0.0005/1 Pathogenic missense rs76838169 chr13 20188974 T G GJB2 0.0147/32 Benign missense rs104894406 chr13 20188977 A A GJB2 Pathogenic missense rs28931592 chr13 20189106 C A GJB2 Pathogenic missense rs111033186 chr13 20189125 G T GJB2 0.0018/4 Benign missense rs104894401 chr13 20189154 G T GJB2 Pathogenic missense rs397516877 chr13 20189156 A T GJB2 Pathogenic missense rs104894403 chr13 20189386 G G GJB2 Pathogenic missense rs72474224 chr13 20189473 G T GJB2 0.0119/26 Pathogenic missense rs80338941 chr13 20189526 T G GJB2 Pathogenic missense rs28929485 chr13 20189532 A A GJB2 Pathogenic missense rs111033338 chr13 20222886 C T GJB6 0.0028/5 Benign missense rs35277762 chr13 20223005 T C GJB6 0.0023/4 Benign missense rs121918322 chr13 21681060 T A FGF9 Pathogenic missense rs1800351 chr13 23250644 C G SGCG 0.4844/1054 Benign synonymous-codon rs1800353 chr13 23324370 G C SGCG 0.3632/790 Benign synonymous-codon rs104894423 chr13 23324452 A A SGCG Pathogenic missense rs2737699 chr13 23331572 T G SACS 0.2663/579 Benign synonymous-codon rs2737701 chr13 23333538 T T SACS 0.0064/14 Benign synonymous-codon rs2737700 chr13 23333895 G G SACS 0.3503/762 Benign synonymous-codon rs137853017 chr13 23338040 T G SACS Pathogenic missense rs137853019 chr13 23340715 A G SACS Pathogenic missense rs1536365 chr13 23354956 A C SACS 0.0960/209 Benign synonymous-codon rs2031640 chr13 23355916 T T SACS 0.0955/208 Benign missense rs41300592 chr13 24885667 T C CENPJ,RNF17 0.0005/1 Benign intron-variant,missense,nc-transcript-variant rs41306029 chr13 24905360 G G CENPJ Benign missense,nc-transcript-variant rs41306027 chr13 24912737 A C CENPJ Benign missense,nc-transcript-variant rs17081389 chr13 24912863 A C CENPJ 0.0248/54 Benign missense,nc-transcript-variant rs35498994 chr13 24912965 C A,C CENPJ 0.1791/389 Benign missense,nc-transcript-variant rs6491066 chr13 25574828 G T ATP8A2 0.4527/986 Benign nc-transcript-variant,synonymous-codon rs80356661 chr13 27924341 T T PDX1 Pathogenic missense rs35019745 chr13 31274520 A T B3GALTL 0.0087/19 Benign synonymous-codon rs34830061 chr13 31274581 T A B3GALTL 0.0028/5 Benign missense rs121918303 chr13 31777398 C C RXFP2 0.0018/4 Pathogenic missense rs80358435 chr13 32319154 A T BRCA2 Pathogenic stop-gained rs398122741 chr13 32319226 A T BRCA2 Pathogenic stop-gained rs80358515 chr13 32319259 A T BRCA2 Pathogenic stop-gained rs80358529 chr13 32319283 A T BRCA2 Pathogenic stop-gained rs397507320 chr13 32325155 C A BRCA2 Pathogenic stop-gained rs80358717 chr13 32326257 G A BRCA2 Pathogenic stop-gained rs80358809 chr13 32326563 G A BRCA2 Pathogenic stop-gained rs80358810 chr13 32326564 T A BRCA2 Pathogenic stop-gained rs81002897 chr13 32326614 T A BRCA2 Pathogenic splice-donor-variant rs80358884 chr13 32329463 A T BRCA2 Pathogenic stop-gained rs81002846 chr13 32331031 T A,T BRCA2 Pathogenic splice-donor-variant rs276174806 chr13 32332603 T T BRCA2 Benign synonymous-codon rs397507263 chr13 32332644 G A,T BRCA2 Benign missense rs80358413 chr13 32332680 A G BRCA2 Pathogenic stop-gained rs80358427 chr13 32332877 A T BRCA2 Pathogenic stop-gained rs80358428 chr13 32332889 A T BRCA2 Pathogenic stop-gained rs80358429 chr13 32332892 A T BRCA2 Pathogenic stop-gained rs398122729 chr13 32333120 A T BRCA2 Pathogenic stop-gained rs80358455 chr13 32333159 G T BRCA2 Pathogenic stop-gained rs397507278 chr13 32333328 A A,G BRCA2 Pathogenic stop-gained rs80358476 chr13 32333333 A T BRCA2 Pathogenic stop-gained rs397507279 chr13 32336325 G A BRCA2 Pathogenic stop-gained rs80358518 chr13 32336892 A G BRCA2 Pathogenic stop-gained rs1799944 chr13 32337326 A G BRCA2 0.0624/135 Benign missense rs80358543 chr13 32337333 G A BRCA2 Pathogenic stop-gained rs80358544 chr13 32337334 G A BRCA2 Pathogenic stop-gained rs80358593 chr13 32337810 A G BRCA2 Pathogenic stop-gained rs80358595 chr13 32337824 A T BRCA2 Pathogenic stop-gained rs431825307 chr13 32337832 A A BRCA2 Pathogenic stop-gained rs80358615 chr13 32338103 A T BRCA2 Pathogenic stop-gained rs80358659 chr13 32338466 A T BRCA2 Pathogenic stop-gained rs398122786 chr13 32339202 A G BRCA2 Pathogenic stop-gained rs80358721 chr13 32339320 A A,G BRCA2 Pathogenic stop-gained rs398122791 chr13 32339409 A A BRCA2 Pathogenic stop-gained rs80358763 chr13 32339759 A T BRCA2 Pathogenic stop-gained rs80358767 chr13 32339789 A T BRCA2 Pathogenic stop-gained rs41293497 chr13 32340037 G A,G BRCA2 Pathogenic stop-gained rs80358824 chr13 32340264 A A,T BRCA2 Pathogenic missense,stop-gained rs80358843 chr13 32340420 A G BRCA2 Pathogenic stop-gained rs80358844 chr13 32340425 A T BRCA2 Pathogenic stop-gained rs80358856 chr13 32340524 G T BRCA2 Pathogenic stop-gained rs28897743 chr13 32346896 G A,C,T BRCA2 Pathogenic missense rs80358928 chr13 32354877 A T BRCA2 Pathogenic stop-gained rs80358936 chr13 32354913 A T BRCA2 Pathogenic stop-gained rs80358979 chr13 32356521 G C BRCA2 Pathogenic missense rs80358981 chr13 32356550 G T BRCA2 Pathogenic stop-gained rs397507922 chr13 32356610 T A,T BRCA2 Pathogenic splice-donor-variant rs81002843 chr13 32356611 A G BRCA2 Pathogenic splice-donor-variant rs80359015 chr13 32362603 G A BRCA2 Pathogenic stop-gained rs80359016 chr13 32362625 G A BRCA2 Pathogenic stop-gained rs80359032 chr13 32363198 G T BRCA2 Pathogenic stop-gained rs276174900 chr13 32363204 G T BRCA2 Pathogenic stop-gained rs41293511 chr13 32363369 A C BRCA2 Pathogenic missense rs80359070 chr13 32363421 A A BRCA2 Pathogenic stop-gained rs80359099 chr13 32370555 A T BRCA2 Pathogenic stop-gained rs81002798 chr13 32370558 T A,T BRCA2 Pathogenic splice-donor-variant rs80359101 chr13 32370957 G A BRCA2 Pathogenic stop-gained rs80359102 chr13 32370972 A A BRCA2 Pathogenic stop-gained rs397507409 chr13 32376714 A T BRCA2 Pathogenic stop-gained rs397507411 chr13 32376732 A T BRCA2 Pathogenic stop-gained rs80359803 chr13 32376791 G A BRCA2 Pathogenic synonymous-codon rs397507412 chr13 32376793 G G BRCA2 Pathogenic splice-donor-variant rs80359133 chr13 32379332 A T BRCA2 Pathogenic stop-gained rs80359134 chr13 32379335 A T BRCA2 Pathogenic stop-gained rs431825371 chr13 32379399 G A BRCA2 Pathogenic stop-gained rs398122715 chr13 32379401 A T BRCA2 Pathogenic stop-gained rs80359148 chr13 32379765 G A BRCA2 Pathogenic stop-gained rs80359149 chr13 32379766 C A BRCA2 Pathogenic stop-gained rs80359159 chr13 32379872 A G,T BRCA2 Pathogenic missense,stop-gained rs397508037 chr13 32379905 A T BRCA2 Pathogenic stop-gained rs28897756 chr13 32379913 G A BRCA2 Pathogenic synonymous-codon rs81002802 chr13 32379914 T A,T BRCA2 Pathogenic splice-donor-variant rs80359180 chr13 32380085 A G,T BRCA2 Pathogenic missense,stop-gained rs80359183 chr13 32380096 T A BRCA2 Pathogenic stop-gained rs80359200 chr13 32394726 A A,G BRCA2 Pathogenic stop-gained rs80359207 chr13 32394788 A G BRCA2 Pathogenic stop-gained rs80359230 chr13 32396995 A G BRCA2 Pathogenic stop-gained rs4987049 chr13 32398437 G G,T BRCA2 Pathogenic stop-gained,synonymous-codon rs80359251 chr13 32398438 A A,T BRCA2 0.0005/1 Pathogenic missense,stop-gained rs397507261 chr13 32398666 G T BRCA2 Benign missense rs2274293 chr13 36312332 G C SPG20 0.3035/660 Benign synonymous-codon rs397514715 chr13 36879563 C C SMAD9 Pathogenic missense rs121434356 chr13 38784703 A A FREM2 Pathogenic missense rs121434355 chr13 38784709 A A FREM2 Pathogenic missense rs387906959 chr13 39723394 C T COG6 Pathogenic missense,nc-transcript-variant rs121908536 chr13 40799096 A G TPTE2P5,SLC25A15 Pathogenic missense,nc-transcript-variant rs121908533 chr13 40799111 G G TPTE2P5,SLC25A15 Pathogenic missense,nc-transcript-variant rs104894429 chr13 40807376 G T TPTE2P5,SLC25A15 Pathogenic intron-variant,stop-gained rs104894424 chr13 40807379 A A TPTE2P5,SLC25A15 Pathogenic intron-variant,missense rs141028076 chr13 40807405 G G,T TPTE2P5,SLC25A15 0.0009/2 Pathogenic intron-variant,missense rs202247804 chr13 40807410 C A TPTE2P5,SLC25A15 Pathogenic intron-variant,missense rs121908535 chr13 40809576 T T TPTE2P5,SLC25A15,MIR621 Pathogenic intron-variant,missense,upstream-variant-2KB rs202247808 chr13 40809579 G A TPTE2P5,SLC25A15,MIR621 Pathogenic intron-variant,missense,upstream-variant-2KB rs202247807 chr13 40809584 G T TPTE2P5,SLC25A15,MIR621 Pathogenic intron-variant,stop-gained,upstream-variant-2KB rs104894431 chr13 40809585 A A TPTE2P5,SLC25A15,MIR621 Pathogenic intron-variant,missense,upstream-variant-2KB rs113994161 chr13 47988540 T T SUCLA2 Pathogenic splice-donor-variant rs121908537 chr13 47988901 T T SUCLA2 Pathogenic missense rs3092891 chr13 48379594 G T RB1 Pathogenic stop-gained rs121913304 chr13 48381414 G T RB1 Pathogenic stop-gained rs121434308 chr13 48411988 G T LPAR6,RB1 Pathogenic intron-variant,missense rs137853294 chr13 48459708 G T RB1 Pathogenic missense rs137853296 chr13 48463758 G C RB1 Pathogenic missense rs137853293 chr13 48465238 G T RB1 Pathogenic stop-gained rs74555752 chr13 50945470 C G RNASEH2B Pathogenic missense rs60431989 chr13 51941194 T G ATP7B Pathogenic missense,nc-transcript-variant rs121907996 chr13 51946438 G T ATP7B Pathogenic intron-variant,missense,nc-transcript-variant rs732774 chr13 51949672 T T ATP7B 0.4803/1045 Benign intron-variant,missense,nc-transcript-variant rs121908001 chr13 51960198 T T ATP7B Pathogenic intron-variant,missense,nc-transcript-variant rs121907998 chr13 51961849 T C ATP7B Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs137853280 chr13 51965034 T G ATP7B Pathogenic splice-acceptor-variant rs1801243 chr13 51974004 G C ATP7B 0.4252/926 Benign missense,nc-transcript-variant rs121907999 chr13 51974355 A A ATP7B Pathogenic intron-variant,nc-transcript-variant,stop-gained rs267606652 chr13 52019125 A C ALG11 Pathogenic intron-variant,missense rs387907181 chr13 52024566 T C ALG11,UTP14C Pathogenic intron-variant,missense,upstream-variant-2KB rs387907184 chr13 52024683 G C ALG11,UTP14C Pathogenic intron-variant,missense,upstream-variant-2KB rs557337 chr13 75286865 C G TBC1D4 0.1524/331 Benign missense rs58232698 chr13 75292232 C G TBC1D4 0.0046/10 Benign missense rs2297208 chr13 75302253 A A TBC1D4 0.3852/839 Benign synonymous-codon rs149821147 chr13 75312867 A C TBC1D4 0.0055/11 Benign missense rs61736969 chr13 75324385 A A,C TBC1D4 0.0060/13 Benign intron-variant,missense,stop-gained rs9565152 chr13 75341125 G C TBC1D4 0.0859/187 Benign synonymous-codon rs17254379 chr13 75362500 A A TBC1D4 0.0615/133 Benign synonymous-codon rs34481987 chr13 76995943 G G CLN5 0.0404/87 Benign synonymous-codon rs28940280 chr13 77000580 A A CLN5 Pathogenic missense rs121908292 chr13 77000799 A T CLN5 Pathogenic stop-gained rs104894390 chr13 77903200 C A,T EDNRB-AS1,EDNRB Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs104894391 chr13 77903356 A A EDNRB-AS1,EDNRB Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs104894388 chr13 77903543 C C EDNRB-AS1,EDNRB Pathogenic intron-variant,missense rs121908440 chr13 93830534 G T GPC6,GPC6-AS2 Pathogenic intron-variant,stop-gained rs121964957 chr13 100268731 G G,T PCCA Pathogenic missense,stop-gained rs121964958 chr13 100301512 G A PCCA Pathogenic missense rs61749895 chr13 100368479 T T PCCA 0.0032/7 Benign missense rs267607281 chr13 102846349 T A BIVM-ERCC5,ERCC5 Pathogenic intron-variant,missense rs121434577 chr13 102854313 A T BIVM-ERCC5,ERCC5 Pathogenic stop-gained rs121434572 chr13 102861621 G T BIVM-ERCC5,ERCC5 0.0005/1 Pathogenic stop-gained rs2227869 chr13 102862735 T C BIVM-ERCC5,ERCC5 0.0491/106 Benign missense rs121434576 chr13 102868199 C A BIVM-ERCC5,ERCC5 Pathogenic missense rs267607280 chr13 102873283 A C BIVM-ERCC5,ERCC5 Pathogenic missense rs17655 chr13 102875652 A C BIVM-ERCC5,ERCC5 0.3774/821 Benign missense rs104894421 chr13 108210436 G T LIG4 Pathogenic missense rs1805388 chr13 108211243 T A LIG4 0.1538/335 Pathogenic missense rs1805389 chr13 108211261 C A LIG4 0.0569/124 Pathogenic missense rs113994108 chr13 110181326 C T COL4A1 Pathogenic missense rs267606743 chr13 110192222 T T COL4A1 Pathogenic missense rs121964948 chr13 113147490 G T F10 Pathogenic intron-variant,missense rs104894455 chr14 20472366 G T PNP Pathogenic stop-gained rs104894453 chr14 20474555 A A PNP Pathogenic missense rs104894450 chr14 20474870 T G PNP Pathogenic missense rs104894451 chr14 20476432 A C PNP Pathogenic missense rs121909542 chr14 20693719 C A ANG,RNASE4 Pathogenic intron-variant,missense rs121909539 chr14 20693753 A G ANG,RNASE4 Pathogenic intron-variant,missense rs121909540 chr14 20693755 A T ANG,RNASE4 Pathogenic intron-variant,missense rs121909541 chr14 20693772 T G ANG,RNASE4 Pathogenic intron-variant,missense rs121909544 chr14 20693973 T A ANG,RNASE4 Pathogenic intron-variant,missense rs137853124 chr14 21294785 G A RPGRIP1 Pathogenic stop-gained rs28937883 chr14 21325943 C T RPGRIP1 Pathogenic intron-variant,missense rs398124354 chr14 21327687 A A RPGRIP1 Pathogenic stop-gained rs267606906 chr14 23394264 G A MYH6 Pathogenic missense rs17091623 chr14 23402790 A T MYH6 0.0275/59 Benign synonymous-codon rs367543053 chr14 23412855 A C MYH7 Pathogenic stop-lost rs201171029 chr14 23415193 T C MYH7 0.0005/1 Benign synonymous-codon rs61737803 chr14 23417220 A A MYH7 0.0018/4 Benign synonymous-codon rs7157716 chr14 23423679 A G MYH7 0.3558/774 Benign missense,nc-transcript-variant,synonymous-codon rs397516166 chr14 23424085 G G MYH7 Pathogenic missense,nc-transcript-variant rs397516153 chr14 23424935 G A MYH7 Pathogenic missense,nc-transcript-variant rs121913627 chr14 23427657 G T MYH7 Pathogenic missense,nc-transcript-variant rs3729816 chr14 23427706 T A MYH7 0.0142/30 Benign nc-transcript-variant,synonymous-codon rs2069543 chr14 23427868 T C MYH7 0.0280/60 Benign nc-transcript-variant,synonymous-codon rs121913636 chr14 23428540 A C MYH7 Pathogenic missense,nc-transcript-variant rs267606911 chr14 23428587 T A MYH7 Pathogenic missense,nc-transcript-variant rs735711 chr14 23429818 T G,T MYH7 0.0918/200 Benign nc-transcript-variant,synonymous-codon rs735712 chr14 23429851 C A MYH7 0.0510/111 Benign nc-transcript-variant,synonymous-codon rs45500700 chr14 23432661 T A MYH7 0.0014/2 Benign nc-transcript-variant,synonymous-codon rs199422319 chr14 24240609 A C TINF2 Pathogenic missense rs199422317 chr14 24240618 C G TINF2 Pathogenic missense rs199422316 chr14 24240620 G G TINF2 Pathogenic missense rs35312232 chr14 24255457 A A,G TGM1 0.0069/14 Pathogenic missense rs121918724 chr14 24256011 C C TGM1 Pathogenic missense rs121918725 chr14 24259984 G T TGM1 Pathogenic missense rs397514523 chr14 24259990 A T TGM1 Pathogenic missense rs121918732 chr14 24260555 G T TGM1 Pathogenic missense rs121918728 chr14 24261724 A C TGM1 Pathogenic missense rs267606826 chr14 28767903 G G FOXG1 Pathogenic stop-gained rs267606828 chr14 28767922 T C FOXG1 Pathogenic missense rs121908927 chr14 30877686 A G RP11-829H16.3,COCH Pathogenic intron-variant,missense rs121908930 chr14 30878897 C A RP11-829H16.3,COCH Pathogenic intron-variant,missense rs121908929 chr14 30878920 G C RP11-829H16.3,COCH Pathogenic intron-variant,missense rs121908931 chr14 30878926 C A RP11-829H16.3,COCH Pathogenic intron-variant,missense rs121908934 chr14 30889673 G C RP11-829H16.3,COCH Pathogenic missense,nc-transcript-variant rs121908932 chr14 30889763 T A,T RP11-829H16.3,COCH Pathogenic missense,nc-transcript-variant rs387906970 chr14 31066320 G T AP4S1 Pathogenic stop-gained rs200401432 chr14 31562125 G A NUBPL Pathogenic missense rs397515440 chr14 31599310 A T NUBPL Pathogenic missense rs397515451 chr14 34713546 T T CFL2 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs28936672 chr14 36517771 A A NKX2-1-AS1,NKX2-1 Pathogenic missense,upstream-variant-2KB rs138568622 chr14 39040770 T C SEC23A 0.0005/1 Pathogenic missense rs137852864 chr14 45173065 A A FANCM Pathogenic stop-gained rs104894448 chr14 49622220 A G MGAT2,RPL36AL Pathogenic missense,upstream-variant-2KB rs387907013 chr14 50267814 T A L2HGDH Pathogenic stop-gained rs118204020 chr14 50269164 G A L2HGDH Pathogenic missense rs118204021 chr14 50302994 C T L2HGDH Pathogenic missense rs17850684 chr14 50587925 C G ATL1 Benign missense rs200314808 chr14 50587992 A C ATL1 Pathogenic missense rs137852657 chr14 50591584 T T ATL1 Pathogenic missense rs119476051 chr14 50591587 G G ATL1 Pathogenic missense rs35629585 chr14 50595623 C A ATL1 0.0051/11 Benign synonymous-codon rs119476049 chr14 50613278 A A ATL1 Pathogenic missense rs397514712 chr14 50628155 G A ATL1 Pathogenic missense rs149669464 chr14 50752531 G T NIN 0.0051/11 Benign missense rs61755995 chr14 50752631 T A NIN 0.0413/89 Benign missense rs2236316 chr14 50757699 C C NIN 0.1841/401 Benign intron-variant,missense rs2073348 chr14 50757940 G A NIN 0.3595/782 Benign intron-variant,synonymous-codon rs4901055 chr14 50760282 T G NIN 0.1566/341 Benign synonymous-codon rs61755036 chr14 50763872 G T NIN 0.0083/17 Benign synonymous-codon rs61755581 chr14 50772463 A A NIN 0.0138/29 Benign synonymous-codon rs61755037 chr14 50806738 G A NIN 0.0051/11 Benign synonymous-codon rs113993987 chr14 50910030 T G PYGL Pathogenic missense rs35026927 chr14 50911799 A G PYGL 0.0028/5 Pathogenic missense rs113993983 chr14 50911804 T A PYGL Pathogenic missense rs113993978 chr14 50915869 A A PYGL Pathogenic stop-gained rs104894442 chr14 54844023 C G GCH1 Pathogenic intron-variant,missense rs104894440 chr14 54865349 G G GCH1 Pathogenic missense rs397514463 chr14 56802043 T A OTX2 Pathogenic nc-transcript-variant,stop-gained rs104894465 chr14 56802068 T T OTX2 Pathogenic nc-transcript-variant,stop-gained rs104894464 chr14 56802340 A C OTX2 Pathogenic missense,nc-transcript-variant rs33976862 chr14 63942134 C C SYNE2 0.0992/216 Benign synonymous-codon rs17101525 chr14 63990506 T A SYNE2 0.0298/65 Benign synonymous-codon rs34001379 chr14 63995196 C G SYNE2 0.0064/14 Benign synonymous-codon rs4902264 chr14 64024977 G C SYNE2 0.2810/612 Benign missense rs7157465 chr14 64031211 G G SYNE2 0.0445/97 Benign missense rs111902869 chr14 64031260 G C SYNE2 0.0060/13 Benign missense rs117423703 chr14 64031264 G G SYNE2 0.0051/11 Benign synonymous-codon rs115969845 chr14 64052936 T C SYNE2 0.0101/21 Benign missense rs35203186 chr14 64070780 A C SYNE2 0.0445/97 Benign missense rs78110192 chr14 64074105 G G SYNE2 0.0147/32 Benign missense rs2781377 chr14 64093374 G A SYNE2 0.0849/184 Benign stop-gained rs17101661 chr14 64097962 T A SYNE2 0.0110/24 Benign missense rs114604397 chr14 64113343 A T SYNE2 0.0069/14 Benign synonymous-codon rs36021513 chr14 64122107 G A SYNE2 0.0174/38 Benign missense rs34944385 chr14 64122119 G A SYNE2 0.0064/14 Benign synonymous-codon rs17766354 chr14 64137874 C G SYNE2 0.0303/65 Benign missense rs10151658 chr14 64146140 T A SYNE2 0.3866/841 Benign missense rs35648226 chr14 64219407 C T ESR2,SYNE2 0.2112/460 Benign intron-variant,synonymous-codon rs121908539 chr14 66508555 A T GPHN Pathogenic missense rs397518420 chr14 67159416 C C GPHN Pathogenic missense rs28940315 chr14 67725206 T A LOC102723898,RDH12 0.0009/2 Pathogenic intron-variant,missense rs202126574 chr14 67726084 G T LOC102723898,RDH12 Pathogenic intron-variant,missense rs104894474 chr14 67726086 G T LOC102723898,RDH12 Pathogenic intron-variant,stop-gained rs387906272 chr14 67727191 T A LOC102723898,RDH12 Pathogenic splice-donor-variant,upstream-variant-2KB rs3742883 chr14 67767822 T C ZFYVE26 0.0826/179 Benign missense rs112787369 chr14 67786135 C T ZFYVE26 0.0367/79 Benign missense rs7143196 chr14 67790768 A T ZFYVE26 0.1102/240 Benign synonymous-codon rs63749824 chr14 73170945 C T PSEN1 Pathogenic missense rs63750599 chr14 73170963 C C PSEN1 Pathogenic missense rs63751399 chr14 73171047 G C PSEN1 Pathogenic missense rs63751272 chr14 73173587 G T PSEN1 Pathogenic missense rs63751037 chr14 73173642 T G PSEN1 Pathogenic missense rs63750306 chr14 73173663 T C,G,T PSEN1 Pathogenic missense rs63750391 chr14 73173665 A A,T PSEN1 Pathogenic missense rs63749885 chr14 73186859 A T PSEN1 Pathogenic missense rs63750590 chr14 73186860 T G PSEN1 Pathogenic missense rs63750265 chr14 73186869 T C,G PSEN1 Pathogenic missense rs267606983 chr14 73192744 G C PSEN1 Pathogenic missense rs63751287 chr14 73192792 T G,T PSEN1 Pathogenic missense rs121917807 chr14 73198057 G A PSEN1 Pathogenic missense rs63750900 chr14 73198067 T A PSEN1 Pathogenic missense rs63750886 chr14 73198072 T G PSEN1 Pathogenic missense rs63749891 chr14 73198094 A C,T PSEN1 Pathogenic missense rs121917809 chr14 73211811 T G PSEN1 Pathogenic missense rs63750218 chr14 73217171 G C PSEN1 Pathogenic missense rs661 chr14 73217225 T A PSEN1 Pathogenic missense rs121917808 chr14 73219192 A A PSEN1 Pathogenic missense rs3180946 chr14 73958235 A C COQ6 0.2231/485 Benign intron-variant,nc-transcript-variant,synonymous-codon rs72552258 chr14 74065249 A T ALDH6A1,CCDC176 Pathogenic missense,utr-variant-3-prime rs201777056 chr14 74292623 A C ABCD4 Pathogenic missense,nc-transcript-variant rs104894457 chr14 74480707 T A MIR4709,NPC2 Pathogenic missense,stop-gained,upstream-variant-2KB rs137854856 chr14 74508727 A T LTBP2 Pathogenic missense rs397514648 chr14 75003365 G A EIF2B2 Pathogenic missense rs104894427 chr14 75004850 G T EIF2B2 Pathogenic stop-gained rs104894425 chr14 75005906 G G EIF2B2 Pathogenic missense rs121908439 chr14 75032069 T G MLH3 Pathogenic downstream-variant-500B,missense,nc-transcript-variant,stop-lost rs28756990 chr14 75047435 G A,T MLH3 0.0165/35 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs267606822 chr14 75639419 T G FLVCR2 Pathogenic missense rs398122984 chr14 75959200 A T TGFB3 Pathogenic missense rs146351534 chr14 76498393 T A ESRRB 0.0055/11 Benign missense rs190285831 chr14 77288777 G G POMT2 0.0005/1 Pathogenic missense rs267606966 chr14 77301169 C T POMT2 Pathogenic missense rs267607171 chr14 77435885 T A VIPAS39 Pathogenic stop-gained rs267607173 chr14 77444311 T A VIPAS39 Pathogenic stop-gained rs267607172 chr14 77454101 T C VIPAS39 Pathogenic missense rs121908869 chr14 80955802 C C TSHR Pathogenic missense rs121908865 chr14 81087962 G A LOC101928462,TSHR Pathogenic intron-variant,missense rs121908863 chr14 81092547 C G LOC101928462,TSHR 0.0009/2 Pathogenic intron-variant,missense rs121908879 chr14 81096641 G G LOC101928462,TSHR Pathogenic intron-variant,missense,upstream-variant-2KB rs121908873 chr14 81139828 C A,T LOC101928431,TSHR Pathogenic intron-variant,missense rs121908868 chr14 81143286 A A LOC101928431,TSHR Pathogenic intron-variant,missense rs121908881 chr14 81143488 T T LOC101928431,TSHR Pathogenic intron-variant,missense rs121908876 chr14 81143572 C A LOC101928431,TSHR Pathogenic intron-variant,missense rs121908884 chr14 81143856 G C LOC101928431,TSHR Pathogenic intron-variant,missense rs121908877 chr14 81143945 A T LOC101928431,TSHR Pathogenic intron-variant,missense rs121908861 chr14 81143949 T C LOC101928431,TSHR Pathogenic intron-variant,missense rs28937584 chr14 81143955 A C LOC101928431,TSHR Pathogenic intron-variant,missense rs121908875 chr14 81144073 T A LOC101928431,TSHR Pathogenic intron-variant,missense rs398607 chr14 87941544 T G GALC 0.4270/929 Benign missense,nc-transcript-variant rs387906954 chr14 87965585 G C GALC Pathogenic missense,nc-transcript-variant rs34362748 chr14 87976368 A T GALC 0.0918/200 Benign missense,nc-transcript-variant rs140287375 chr14 88416725 G T SPATA7 Pathogenic stop-gained rs119103286 chr14 88841196 G A TTC8 Pathogenic synonymous-codon,utr-variant-5-prime rs119467003 chr14 89993420 T G TDP1 Pathogenic missense rs267607276 chr14 90401385 T T CALM1 Pathogenic missense rs267607277 chr14 90404386 T G CALM1 Pathogenic missense rs28939072 chr14 91891334 T G FBLN5 Pathogenic missense rs139539448 chr14 92005874 T C TRIP11 0.0018/4 Pathogenic intron-variant,missense rs267607138 chr14 92015729 T A TRIP11 Pathogenic stop-gained,upstream-variant-2KB rs1048755 chr14 92082441 T T ATXN3 0.3081/671 Benign intron-variant,missense,nc-transcript-variant rs28929488 chr14 94304471 G T SERPINA6 Pathogenic missense rs17473 chr14 94619305 C G SERPINA3 0.0018/4 Pathogenic missense rs116929575 chr14 94623782 T G SERPINA3 0.0037/7 Pathogenic missense rs387906934 chr14 95108014 A A DICER1 Pathogenic missense rs137852979 chr14 95116575 A A DICER1 Pathogenic stop-gained rs387906830 chr14 96852853 G T VRK1 Pathogenic missense rs3818188 chr14 101979824 A A DYNC1H1 0.2447/533 Benign synonymous-codon rs387906738 chr14 101980506 T G DYNC1H1 Pathogenic missense rs17512054 chr14 101986736 G G DYNC1H1 0.0046/10 Benign synonymous-codon rs17512082 chr14 101987539 G A DYNC1H1 0.0197/43 Benign synonymous-codon rs387906743 chr14 101991567 C G DYNC1H1 Pathogenic missense rs17540957 chr14 102000318 G T DYNC1H1 0.0087/19 Benign synonymous-codon rs8010870 chr14 102027424 C G,T DYNC1H1 0.1731/377 Benign synonymous-codon rs397509412 chr14 102032419 G A DYNC1H1 Pathogenic missense rs397509411 chr14 102033136 G A DYNC1H1 Pathogenic missense rs387906739 chr14 102039416 C C DYNC1H1 Pathogenic missense rs111033595 chr15 25340219 C T UBE3A Pathogenic missense,stop-gained rs147145506 chr15 25371582 A T UBE3A 0.0032/7 Benign missense rs28528079 chr15 25371697 G A UBE3A 0.0239/51 Benign synonymous-codon rs111033596 chr15 25371798 T G UBE3A Pathogenic missense rs61734190 chr15 25371801 G G UBE3A 0.0174/38 Benign synonymous-codon rs121918167 chr15 27871170 G A OCA2 Pathogenic missense rs121918169 chr15 27926169 C G OCA2 Pathogenic missense rs267607140 chr15 31028454 T T TRPM1 Pathogenic stop-gained rs121912674 chr15 34790458 C C RP11-814P5.1,ACTC1 Pathogenic intron-variant,missense rs121912673 chr15 34791163 G T RP11-814P5.1,ACTC1 Pathogenic intron-variant,missense rs2307493 chr15 34791177 G G LOC101928174,ACTC1 0.0289/62 Benign intron-variant,synonymous-codon rs121912675 chr15 34791215 A A RP11-814P5.1,ACTC1 Pathogenic intron-variant,missense rs121912677 chr15 34793326 G C RP11-814P5.1,ACTC1 Pathogenic intron-variant,missense rs121912676 chr15 34793431 G A RP11-814P5.1,ACTC1 Pathogenic intron-variant,missense rs121434318 chr15 38299471 C A SPRED1 Pathogenic intron-variant,missense rs7182445 chr15 38322324 A A SPRED1 0.1786/388 Benign synonymous-codon rs121434312 chr15 38322382 G T SPRED1 Pathogenic stop-gained rs121434316 chr15 38349476 A T SPRED1 Pathogenic stop-gained rs121434314 chr15 38349482 A G,T SPRED1 Pathogenic stop-gained rs121434317 chr15 38351113 G T SPRED1 Pathogenic stop-gained rs28989186 chr15 40176672 G T BUB1B Pathogenic stop-gained rs28989181 chr15 40212643 T T BUB1B Pathogenic missense rs34695403 chr15 40407639 G G,T IVD Pathogenic intron-variant,missense,nc-transcript-variant rs398123683 chr15 40410799 G C IVD Pathogenic splice-donor-variant rs7177192 chr15 40606445 A C CASC5 0.3416/744 Benign missense rs79413475 chr15 40610292 G C CASC5 0.0308/67 Benign missense rs73394756 chr15 40622278 T C CASC5 0.0055/11 Benign missense rs11855334 chr15 40622574 G T CASC5 0.3471/755 Benign synonymous-codon rs33931006 chr15 40622633 T G CASC5 0.0069/14 Benign missense rs11070285 chr15 40623696 G C CASC5 0.3485/759 Benign synonymous-codon rs141726041 chr15 40624434 C A CASC5 0.0092/20 Benign missense rs387906957 chr15 41394860 T C NDUFAF1 Pathogenic missense,nc-transcript-variant rs387906956 chr15 41394999 A G NDUFAF1 Pathogenic missense,nc-transcript-variant rs35889956 chr15 42387805 G T CAPN3 0.0083/17 Benign missense rs17593 chr15 42387860 G C CAPN3 0.0432/94 Benign synonymous-codon rs80338801 chr15 42392638 A A CAPN3 Pathogenic splice-acceptor-variant rs121434547 chr15 42392649 G T CAPN3 Pathogenic missense rs121434544 chr15 42402972 G A CAPN3 Pathogenic missense,upstream-variant-2KB rs80338802 chr15 42410926 G A CAPN3 Pathogenic missense rs115311625 chr15 42410952 A A CAPN3 0.0060/13 Benign missense rs80338696 chr15 42730632 G A CDAN1 0.0005/1 Pathogenic missense,nc-transcript-variant rs12917189 chr15 42731284 G C CDAN1 0.3857/840 Benign missense,nc-transcript-variant rs80338694 chr15 42736715 A C CDAN1 Pathogenic missense,nc-transcript-variant rs56307230 chr15 42752654 T C TTBK2 0.0055/11 Benign synonymous-codon rs312262778 chr15 44572821 T G SPG11 Pathogenic intron-variant,splice-acceptor-variant rs312262774 chr15 44574931 T A SPG11 Pathogenic intron-variant,stop-gained rs312262772 chr15 44575038 A C SPG11 Pathogenic intron-variant,stop-gained rs141848292 chr15 44584057 C A SPG11 Pathogenic missense rs312262761 chr15 44592406 T T SPG11 Pathogenic stop-gained rs312262758 chr15 44596899 A T SPG11 Pathogenic missense rs36014111 chr15 44608477 A T SPG11 0.0211/46 Benign synonymous-codon rs312262749 chr15 44620189 C A SPG11 Pathogenic splice-donor-variant rs312262748 chr15 44620191 G C SPG11 Pathogenic missense rs312262743 chr15 44622219 C G SPG11 Pathogenic splice-donor-variant rs312262742 chr15 44622220 T A SPG11 Pathogenic missense rs3759873 chr15 44651599 G C SPG11 0.0275/59 Benign missense rs3759874 chr15 44651600 G A SPG11 0.0262/57 Benign synonymous-codon rs312262724 chr15 44651665 A A SPG11 Pathogenic stop-gained rs80338868 chr15 44657156 A T SPG11 0.0037/7 Benign missense rs312262715 chr15 44660431 T G SPG11 Pathogenic splice-donor-variant rs312262710 chr15 44660606 C A SPG11 Pathogenic stop-gained rs312262709 chr15 44660607 C T SPG11 Pathogenic stop-gained rs397514709 chr15 45368137 A G GATM Pathogenic missense rs397514708 chr15 45368240 A A GATM Pathogenic stop-gained rs80338738 chr15 45369325 C A GATM Pathogenic splice-donor-variant rs201348482 chr15 45603107 A T BLOC1S6 Pathogenic missense rs1426654 chr15 48134287 C G SLC24A5 0.4775/1039 Pathogenic missense rs137853158 chr15 48229278 T T SLC12A1 Pathogenic missense rs137853159 chr15 48251703 T A SLC12A1 Pathogenic stop-gained rs137853157 chr15 48251770 G A SLC12A1 Pathogenic missense rs267606796 chr15 48411338 C T FBN1 Pathogenic stop-gained rs397515861 chr15 48411339 A T FBN1 Pathogenic stop-gained rs398122833 chr15 48412568 C A FBN1 Pathogenic splice-donor-variant rs397515854 chr15 48421651 G T FBN1 Pathogenic missense rs137854464 chr15 48425483 G T FBN1 Pathogenic missense rs363830 chr15 48428455 T T FBN1 0.0399/86 Benign synonymous-codon rs363824 chr15 48432924 G G FBN1 0.0014/2 Benign synonymous-codon rs137854460 chr15 48432943 A G FBN1 Pathogenic missense rs137854461 chr15 48437026 T C FBN1 Pathogenic missense rs267606797 chr15 48437362 T C FBN1 Pathogenic stop-gained rs387906623 chr15 48460258 G T FBN1 Pathogenic missense rs387906626 chr15 48463207 A C FBN1 Pathogenic missense rs387906622 chr15 48463210 A C FBN1 Pathogenic missense rs387906625 chr15 48463219 A C FBN1 Pathogenic missense rs397515819 chr15 48463241 T G FBN1 Pathogenic splice-acceptor-variant rs397515817 chr15 48464009 A T FBN1 Pathogenic missense rs267606801 chr15 48467956 C C FBN1 Pathogenic missense rs111401431 chr15 48468097 G A FBN1 Pathogenic missense rs397515805 chr15 48470726 A G,T FBN1 Pathogenic missense rs397515802 chr15 48472665 C G FBN1 Pathogenic missense rs387906548 chr15 48474527 C T FBN1 Pathogenic splice-donor-variant rs137854474 chr15 48483863 C G FBN1 Pathogenic missense rs137854458 chr15 48483910 A G FBN1 Pathogenic missense rs137854471 chr15 48483931 A T FBN1 Pathogenic missense rs148147223 chr15 48485411 G T FBN1 0.0014/2 Benign synonymous-codon rs137854469 chr15 48485418 A T FBN1 Pathogenic missense rs397515792 chr15 48487311 C A FBN1 Pathogenic splice-donor-variant rs137854473 chr15 48487384 A A FBN1 Pathogenic missense rs137854482 chr15 48487389 A T FBN1 Pathogenic missense rs137854470 chr15 48487425 A T FBN1 Pathogenic missense rs140587 chr15 48488156 T A FBN1 0.0046/10 Benign synonymous-codon rs137854465 chr15 48488230 T G FBN1 Pathogenic missense rs137854478 chr15 48488233 G T FBN1 Pathogenic missense rs397515786 chr15 48488412 A T FBN1 Pathogenic missense rs137854481 chr15 48488481 A T FBN1 Pathogenic missense rs112202622 chr15 48490079 T A,G,T FBN1 Pathogenic splice-acceptor-variant rs397515766 chr15 48496178 T G FBN1 Pathogenic missense rs137854479 chr15 48497298 A C FBN1 Pathogenic missense rs137854462 chr15 48510115 T A FBN1 Pathogenic missense rs397515754 chr15 48516318 C A FBN1 Pathogenic stop-gained rs397515753 chr15 48520755 T A FBN1 Pathogenic stop-gained rs137854480 chr15 48537629 G A FBN1 Pathogenic missense rs199474693 chr15 48600196 G C FBN1 Pathogenic missense rs397515794 chr15 48600213 A T FBN1 Pathogenic missense rs137854467 chr15 48600217 A A FBN1 Pathogenic missense rs25403 chr15 48613073 T A FBN1 Pathogenic missense rs267606861 chr15 50252520 C T HDC Pathogenic stop-gained rs58909326 chr15 50941684 T G AP4E1 0.0161/35 Benign missense rs75130619 chr15 50997408 T T AP4E1 0.0110/24 Benign missense rs121434536 chr15 51212460 C A CYP19A1 Pathogenic missense rs143816093 chr15 53609531 C G,T WDR72 0.0005/1 Pathogenic missense,nc-transcript-variant rs104894499 chr15 55223902 G G RAB27A Pathogenic missense rs104894498 chr15 55223967 G G RAB27A Pathogenic missense rs104894497 chr15 55228693 T G RAB27A Pathogenic missense rs397515621 chr15 55439557 T A DYX1C1-CCPG1,DYX1C1 Pathogenic nc-transcript-variant,stop-gained rs398122381 chr15 57232327 A G TCF12 Pathogenic stop-gained rs113298164 chr15 58563549 G T LIPC 0.0028/5 Pathogenic missense rs104894505 chr15 63044072 A A TPM1 Pathogenic intron-variant,missense,utr-variant-5-prime rs199476315 chr15 63061723 A A TPM1 Pathogenic intron-variant,missense,nc-transcript-variant rs200286768 chr15 65003238 A A MTFMT Pathogenic missense,synonymous-codon rs397516790 chr15 66435115 A C MAP2K1 Pathogenic missense rs397516793 chr15 66436842 A C MAP2K1 Pathogenic missense rs387906854 chr15 67165023 C T SMAD3 Pathogenic missense,upstream-variant-2KB rs387906852 chr15 67181418 G A SMAD3 Pathogenic missense rs4777502 chr15 72345454 T A,C,G HEXA 0.1001/218 Benign missense,synonymous-codon rs121907955 chr15 72345461 G T HEXA Pathogenic missense rs28942071 chr15 72345462 G A HEXA Pathogenic missense rs121907956 chr15 72345476 G T HEXA Pathogenic missense rs121907966 chr15 72345477 T A HEXA Pathogenic missense rs1800430 chr15 72346662 C C HEXA 0.0294/64 Benign missense rs121907963 chr15 72346680 C A HEXA Pathogenic stop-gained rs267606862 chr15 72346681 C T HEXA Pathogenic stop-gained rs76173977 chr15 72348047 G T HEXA 0.0009/2 Pathogenic splice-donor-variant rs28942072 chr15 72349093 A G,T HEXA Pathogenic synonymous-codon rs121907977 chr15 72349163 T C HEXA Pathogenic missense rs387906311 chr15 72351132 C T HEXA Pathogenic splice-donor-variant rs121907974 chr15 72351173 A G HEXA Pathogenic missense rs121907961 chr15 72351176 A A HEXA Pathogenic missense rs121907976 chr15 72351194 G C HEXA Pathogenic missense rs1800429 chr15 72351207 G T HEXA Pathogenic missense rs121907973 chr15 72351215 T G HEXA Pathogenic missense rs387906310 chr15 72351231 A G HEXA Pathogenic missense rs28941771 chr15 72353100 A G HEXA Pathogenic missense rs28941770 chr15 72353105 G A,T HEXA Pathogenic missense rs121907953 chr15 72353106 A A HEXA Pathogenic missense rs121907975 chr15 72355591 G C HEXA Pathogenic missense rs113994181 chr15 72695194 T G BBS4 Benign intron-variant,nc-transcript-variant,synonymous-codon rs113994192 chr15 72712242 G G BBS4 Pathogenic splice-acceptor-variant rs113994190 chr15 72712308 T C BBS4 Pathogenic splice-donor-variant rs529004 chr15 73322493 G C HCN4 0.1309/285 Benign synonymous-codon rs118203961 chr15 74196145 G A STRA6 Pathogenic intron-variant,missense rs121912813 chr15 74347903 A C CYP11A1 Pathogenic missense,utr-variant-5-prime rs387907241 chr15 74414893 G A SEMA7A Pathogenic missense rs104894494 chr15 74891539 A T MPI Pathogenic missense rs12440159 chr15 74896243 T T MPI 0.0243/53 Benign synonymous-codon rs116933453 chr15 74897215 G T MPI 0.0041/8 Benign intron-variant,missense rs1801591 chr15 76286421 T A ETFA 0.0500/108 Benign missense rs119458969 chr15 76286463 C C ETFA Pathogenic missense rs397515412 chr15 78105913 T G CIB2 Pathogenic missense rs80338894 chr15 80158170 G T FAH Pathogenic missense rs370686447 chr15 80168052 C A FAH Pathogenic stop-gained rs80338895 chr15 80168263 C T FAH Pathogenic splice-acceptor-variant rs80338897 chr15 80172240 C T FAH Pathogenic missense rs121965077 chr15 80181120 G G FAH Pathogenic missense rs121918164 chr15 89315318 G T FANCI Pathogenic stop-gained rs121918163 chr15 89315319 A A FANCI Pathogenic missense rs115048121 chr15 89316836 A C POLG,FANCI 0.0064/14 Benign intron-variant,utr-variant-3-prime rs113994100 chr15 89317531 T C POLG,FANCI Pathogenic downstream-variant-500B,missense rs121918048 chr15 89320953 T A POLG Pathogenic missense rs121918054 chr15 89323460 A G POLG 0.0005/1 Pathogenic missense rs121918052 chr15 89327006 T G MIR6766,POLG Pathogenic missense,upstream-variant-2KB rs113994095 chr15 89327201 C T MIR6766,POLG 0.0005/1 Pathogenic missense,upstream-variant-2KB rs267606870 chr15 90088703 G C IDH2 Pathogenic missense rs367543039 chr15 90782909 A A BLM Pathogenic stop-gained rs367543023 chr15 90790712 A T BLM Pathogenic missense rs137853153 chr15 90794254 C T BLM Pathogenic missense rs367543017 chr15 90798257 A G BLM Pathogenic stop-gained rs2227934 chr15 90803693 C A BLM 0.1442/314 Benign intron-variant,synonymous-codon rs7167216 chr15 90811291 T A BLM 0.0670/146 Benign missense rs397514740 chr15 92927310 G T CHD2 Pathogenic stop-gained rs398123000 chr15 92948970 G T CHD2 Pathogenic stop-gained rs121912429 chr15 98922162 G A IGF1R Pathogenic missense rs121918530 chr15 99690352 T G MEF2A 0.0009/2 Pathogenic missense rs397514653 chr15 100914711 C C ALDH1A3 Pathogenic missense rs387906985 chr15 101178181 G C CHSY1 Pathogenic missense rs121909397 chr16 869982 T A,C LMF1 Pathogenic nc-transcript-variant,stop-gained rs387907576 chr16 1461460 A C CLCN7 Pathogenic missense rs387907193 chr16 1587275 A C IFT140 Pathogenic missense rs201188361 chr16 1592176 G T IFT140 Pathogenic missense rs45512692 chr16 2048649 A T NTHL1,TSC2 Pathogenic stop-gained,upstream-variant-2KB rs121964862 chr16 2063042 A T TSC2 Pathogenic stop-gained rs267607104 chr16 2496899 T C TBC1D24 Pathogenic missense rs28940579 chr16 3243310 C G MEFV 0.0005/1 Pathogenic missense,utr-variant-3-prime rs104895083 chr16 3247166 A C MEFV Pathogenic missense rs104895105 chr16 3247171 C A MEFV Pathogenic missense rs224208 chr16 3247181 T T MEFV 0.3889/847 Benign synonymous-codon rs73491896 chr16 3728483 T T CREBBP 0.0014/2 Benign synonymous-codon rs398124145 chr16 3744893 T T CREBBP Pathogenic splice-donor-variant rs61753381 chr16 3781229 A T CREBBP 0.0055/11 Benign missense rs121434625 chr16 3793533 C A CREBBP Pathogenic stop-gained rs3025702 chr16 3810639 T G CREBBP 0.0689/149 Benign synonymous-codon rs121908340 chr16 5075447 A G ALG1 0.0005/1 Pathogenic missense rs374928784 chr16 5082674 T A ALG1 Pathogenic splice-donor-variant rs387906927 chr16 5083682 T A ALG1 Pathogenic stop-gained rs28936415 chr16 8811153 C A PMM2 0.0078/17 Pathogenic missense rs104894526 chr16 8811674 G T PMM2 Pathogenic missense rs80338704 chr16 8813030 C G PMM2 Pathogenic missense rs78290141 chr16 8847731 T G,T PMM2 0.0005/1 Pathogenic missense rs80338705 chr16 8847737 T T PMM2 Pathogenic missense rs77705198 chr16 9764661 T A GRIN2A ?/0 Benign synonymous-codon rs397518467 chr16 9764715 T C GRIN2A Pathogenic stop-gained rs9806806 chr16 9822347 C G,T GRIN2A 0.2635/574 Benign synonymous-codon rs397518471 chr16 9829476 G C GRIN2A Pathogenic missense rs397518450 chr16 9834227 G C GRIN2A Pathogenic missense rs397518468 chr16 9840706 T A GRIN2A Pathogenic missense rs397518470 chr16 9840745 G T GRIN2A Pathogenic missense rs387906637 chr16 9938314 G A GRIN2A Pathogenic stop-gained rs147105770 chr16 13935697 G T ERCC4 Pathogenic missense,nc-transcript-variant rs149364215 chr16 13947661 G A ERCC4 Pathogenic missense,nc-transcript-variant rs1799801 chr16 13948101 G C ERCC4 0.2264/492 Benign nc-transcript-variant,synonymous-codon rs1800124 chr16 13948220 A G ERCC4 0.0087/19 Benign missense,nc-transcript-variant rs5738 chr16 23189642 A A SCNN1G 0.0032/7 Pathogenic missense rs137852709 chr16 23367879 T T SCNN1B Pathogenic missense rs397514594 chr16 23535346 A T EARS2 Pathogenic missense,nc-transcript-variant rs397514595 chr16 23552251 A C EARS2 Pathogenic missense,nc-transcript-variant rs118203999 chr16 23623003 T A PALB2 Pathogenic stop-gained rs180177124 chr16 23624082 T A PALB2 Pathogenic stop-gained rs180177111 chr16 23629831 T A PALB2 Pathogenic stop-gained rs45532440 chr16 23630140 T G PALB2 0.0142/30 Benign missense rs180177103 chr16 23634913 T A PALB2 Pathogenic stop-gained rs180177100 chr16 23635306 T A PALB2 Pathogenic stop-gained rs180177091 chr16 23635795 T A PALB2 Pathogenic stop-gained rs57605939 chr16 23635917 G A PALB2 0.0174/38 Benign missense rs121434286 chr16 28482500 G A,T CLN3 Pathogenic missense,stop-gained rs121909534 chr16 30069384 A A ALDOA Pathogenic missense rs137853589 chr16 30751594 G A PHKG2 Pathogenic intron-variant,missense,utr-variant-5-prime rs137853591 chr16 30753434 A T PHKG2 Pathogenic missense rs104894542 chr16 31091243 G C VKORC1 Pathogenic missense,synonymous-codon rs147210405 chr16 31110716 T A,C BCKDK Pathogenic missense rs186547381 chr16 31190398 G T FUS 0.0009/2 Pathogenic missense,nc-transcript-variant rs267606833 chr16 31191427 G T FUS Pathogenic missense,nc-transcript-variant rs398122802 chr16 31484914 G A SLC5A2 Pathogenic missense,nc-transcript-variant rs188286943 chr16 46662452 G T VPS35 Pathogenic missense rs34343511 chr16 46697501 G C ORC6 0.0110/24 Benign nc-transcript-variant,synonymous-codon rs34667348 chr16 47650919 A A,T PHKB 0.0023/4 Pathogenic missense,stop-gained rs199948078 chr16 47696411 A T PHKB Pathogenic stop-gained rs104895476 chr16 50711057 G G,T NOD2 Pathogenic missense,nc-transcript-variant rs104895477 chr16 50711058 A A NOD2 Pathogenic missense,nc-transcript-variant rs104895472 chr16 50711398 C T NOD2 Pathogenic missense,nc-transcript-variant rs121908389 chr16 50791689 G G CYLD Pathogenic missense,nc-transcript-variant rs137853084 chr16 51140966 A T SALL1 Pathogenic stop-gained rs104894537 chr16 51141396 T A SALL1 Pathogenic missense,stop-gained,synonymous-codon rs4784320 chr16 53602088 T A RPGRIP1L 0.0946/206 Benign synonymous-codon rs2111119 chr16 53637842 T T RPGRIP1L 0.1524/331 Benign missense rs121918203 chr16 53645694 G A RPGRIP1L Pathogenic stop-gained rs2302677 chr16 53649037 G T RPGRIP1L 0.0629/136 Benign missense rs121918199 chr16 53686452 T A RPGRIP1L Pathogenic stop-gained rs61747071 chr16 53686524 C T RPGRIP1L 0.0390/84 Pathogenic missense rs121918214 chr16 53873837 G A FTO Pathogenic missense rs387907198 chr16 54932696 C C IRX5 Pathogenic missense rs121912954 chr16 55485677 A A MMP2 Pathogenic stop-gained rs121918126 chr16 55698005 C C,T SLC6A2 Pathogenic missense rs35294865 chr16 56499892 A G BBS2 0.0078/17 Benign synonymous-codon rs121908180 chr16 56506191 A A BBS2 Pathogenic stop-gained rs121908181 chr16 56511214 C A BBS2 Pathogenic missense rs121908174 chr16 56514574 C C BBS2 Pathogenic missense rs4784677 chr16 56514589 T T BBS2 0.0041/8 Pathogenic missense rs267607051 chr16 56894594 T A SLC12A3 Pathogenic missense rs121908465 chr16 57651407 C C GPR56 Pathogenic intron-variant,missense,utr-variant-5-prime rs121908463 chr16 57656244 G A GPR56 Pathogenic missense rs281865497 chr16 66513786 G G TK2 Pathogenic missense,nc-transcript-variant rs137854430 chr16 66513795 T T TK2 Pathogenic missense,nc-transcript-variant rs281865496 chr16 66517179 T T TK2 Pathogenic intron-variant,missense,nc-transcript-variant rs281865495 chr16 66517192 C C TK2 Pathogenic intron-variant,missense,nc-transcript-variant rs137886900 chr16 66517207 A A,C,T TK2 Pathogenic intron-variant,missense,nc-transcript-variant,synonymous-codon rs281865492 chr16 66529054 G T TK2 Pathogenic missense,nc-transcript-variant rs281865493 chr16 66529055 T A TK2 Pathogenic missense,nc-transcript-variant rs281865491 chr16 66531382 A A TK2 Pathogenic nc-transcript-variant,stop-gained rs281865490 chr16 66531421 A T TK2 Pathogenic missense,nc-transcript-variant rs281865488 chr16 66541912 C C TK2 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs281865487 chr16 66541919 T A TK2 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs143837268 chr16 67620774 A T CTCF 0.0096/20 Benign synonymous-codon rs121434543 chr16 68681065 T T CDH3 Pathogenic missense rs121964877 chr16 68822081 G T CDH1 Pathogenic stop-gained rs33935154 chr16 68822138 C A CDH1 0.0101/21 Pathogenic missense rs35572355 chr16 68833344 T A CDH1 0.0009/2 Pathogenic missense rs1800566 chr16 69711242 T A NQO1 0.2769/603 Pathogenic missense rs387907202 chr16 70512280 A A COG4 Pathogenic stop-gained rs3931036 chr16 70514394 T A COG4 0.0436/95 Benign missense rs373501414 chr16 70991397 T A HYDIN Pathogenic splice-acceptor-variant rs118203916 chr16 71568260 G A RP11-432I5.1,TAT Pathogenic intron-variant,stop-gained rs267606766 chr16 72017043 G A DHODH Pathogenic missense rs11554620 chr16 74716453 T G FA2H 0.0725/157 Benign synonymous-codon rs200799769 chr16 75542641 G T TMEM231 Pathogenic missense,nc-transcript-variant rs397514746 chr16 75631726 G T KARS Pathogenic missense rs397514745 chr16 75636503 G G KARS Pathogenic missense rs267607194 chr16 75640258 G T KARS Pathogenic missense rs397515467 chr16 77322434 A A ADAMTS18 Pathogenic stop-gained,utr-variant-5-prime rs119485092 chr16 81354535 T A GAN Pathogenic missense rs119485095 chr16 81354627 A A GAN Pathogenic missense rs119485090 chr16 81354723 G T GAN Pathogenic stop-gained rs267607226 chr16 84159725 A A DNAAF1 Pathogenic stop-gained rs267607225 chr16 84159744 G T DNAAF1 Pathogenic stop-gained rs397514710 chr16 85909137 A G IRF8 Pathogenic missense rs104894516 chr16 86567632 C G FOXC2 Pathogenic stop-gained rs104894513 chr16 88646773 G T CYBA Pathogenic missense rs118204437 chr16 88824853 G A GALNS Pathogenic missense rs3743544 chr16 88837678 T G GALNS 0.0390/84 Benign synonymous-codon,utr-variant-5-prime rs118204436 chr16 88841001 C G GALNS Pathogenic missense,utr-variant-5-prime rs72819366 chr16 89190287 G A CDH15 0.1942/423 Benign synonymous-codon rs121918358 chr16 89510539 G A SPG7 Pathogenic stop-gained rs193302872 chr17 1775110 T G SERPINF1 Pathogenic stop-gained rs121434489 chr17 2638310 G T PAFAH1B1 Pathogenic stop-gained rs121434482 chr17 2670209 T G PAFAH1B1 Pathogenic missense rs121434484 chr17 2670268 C C PAFAH1B1 Pathogenic missense rs121434488 chr17 2674110 G C PAFAH1B1 Pathogenic missense rs121434490 chr17 2674218 T C PAFAH1B1 Pathogenic missense rs113994203 chr17 2676607 T A PAFAH1B1 Pathogenic splice-donor-variant rs104894549 chr17 3494369 G A ASPA,SPATA22 Pathogenic intron-variant,stop-gained rs104894552 chr17 3498892 T T ASPA,SPATA22 Pathogenic intron-variant,missense rs28940279 chr17 3499000 G C ASPA,SPATA22 Pathogenic intron-variant,missense rs113994205 chr17 3655305 T A CTNS Pathogenic stop-gained,utr-variant-5-prime rs113994206 chr17 3656498 G C CTNS 0.0005/1 Pathogenic missense rs113994208 chr17 3656727 A A CTNS Pathogenic missense rs121909511 chr17 4900845 G A C17orf107,CHRNE Pathogenic missense,utr-variant-3-prime rs121909513 chr17 4902311 G A C17orf107,CHRNE Pathogenic stop-gained,utr-variant-3-prime rs121908065 chr17 4933119 T T GP1BA Pathogenic missense rs121908062 chr17 4933350 T T GP1BA Pathogenic missense rs387906253 chr17 7222068 A C ACADVL Pathogenic missense rs113994168 chr17 7222203 G T ACADVL Pathogenic missense rs118204017 chr17 7224007 T C ACADVL,MIR324 Pathogenic missense,upstream-variant-2KB rs113994170 chr17 7224040 G T ACADVL,MIR324 Pathogenic missense,upstream-variant-2KB rs398123083 chr17 7224041 G A ACADVL,MIR324 Pathogenic missense,upstream-variant-2KB rs137852811 chr17 7454329 T A CHRNB1 Pathogenic missense rs76927517 chr17 7455835 C C CHRNB1 0.0106/22 Benign missense rs121912659 chr17 7673554 C A TP53 Pathogenic missense rs121912657 chr17 7673806 C A TP53 Pathogenic missense rs121912652 chr17 7674191 C T TP53 Pathogenic missense rs397516435 chr17 7674945 G A TP53 Pathogenic stop-gained rs199766569 chr17 8075687 A C ALOX12B Pathogenic missense rs387906979 chr17 8122397 C C HES7 Pathogenic missense rs201455840 chr17 8228592 G G,T CTC1 Pathogenic downstream-variant-500B,missense,nc-transcript-variant rs202138550 chr17 8229943 G A CTC1 ?/0 Pathogenic intron-variant,missense,nc-transcript-variant,synonymous-codon rs369255297 chr17 8231334 A T CTC1 Pathogenic intron-variant,missense,nc-transcript-variant rs138992963 chr17 10396932 T A MYH8 0.0051/11 Benign synonymous-codon rs35962914 chr17 10400439 T G MYH8 0.0078/17 Benign missense rs3744553 chr17 10401183 C T MYH8 0.0418/91 Benign synonymous-codon rs121434590 chr17 10406924 G T MYH8 Pathogenic missense rs12936716 chr17 10406929 A A MYH8 0.0473/103 Benign synonymous-codon rs2285479 chr17 10632701 A A MYH3 0.4922/1072 Benign synonymous-codon rs35230241 chr17 10635772 T A MYH3 0.0101/21 Benign missense rs2285475 chr17 10639154 C G MYH3 0.4949/1077 Benign synonymous-codon rs2285474 chr17 10639448 G G MYH3 0.4949/1077 Benign synonymous-codon rs2285472 chr17 10639569 G C MYH3 0.4954/1079 Benign synonymous-codon rs2285469 chr17 10640146 G C MYH3 0.4949/1077 Benign synonymous-codon rs121913619 chr17 10650374 T A MYH3 Pathogenic missense rs17817203 chr17 10655059 C G MYH3 0.0165/35 Benign synonymous-codon rs104894630 chr17 10692805 G A SCO1 Pathogenic missense rs119484087 chr17 12995006 C A ELAC2 0.0005/1 Pathogenic missense rs397515464 chr17 13005967 C A ELAC2 Pathogenic stop-gained rs387906383 chr17 14069607 G C COX10-AS1,COX10 Pathogenic missense,upstream-variant-2KB rs28936682 chr17 15230931 C A PMP22 Pathogenic missense,nc-transcript-variant,synonymous-codon rs104894618 chr17 15239554 A C PMP22 Pathogenic missense,nc-transcript-variant rs104894621 chr17 15239575 A A PMP22 Pathogenic missense,nc-transcript-variant,stop-gained rs104894626 chr17 15259190 T G PMP22 Pathogenic intron-variant,missense,nc-transcript-variant rs34557412 chr17 16948873 G G TNFRSF13B 0.0032/7 Pathogenic missense rs398124532 chr17 17213798 T A LOC101928660,FLCN Pathogenic intron-variant,nc-transcript-variant,stop-gained rs398124530 chr17 17214990 C T LOC101928660,FLCN Pathogenic intron-variant,nc-transcript-variant,stop-gained rs137852929 chr17 17215228 T A,C LOC101928660,FLCN Pathogenic intron-variant,nc-transcript-variant,stop-gained rs121908966 chr17 18145929 A T MYO15A Pathogenic missense rs121908967 chr17 18151859 A T MYO15A Pathogenic stop-gained rs72547575 chr17 19664997 T G ALDH3A2 Pathogenic missense rs80338775 chr17 28402322 T T SLC46A1 Pathogenic intron-variant,splice-acceptor-variant rs137854557 chr17 31214524 T G NF1 Pathogenic missense rs137854562 chr17 31235623 G T NF1 Pathogenic stop-gained rs137854564 chr17 31235630 G C NF1 Pathogenic missense rs137854559 chr17 31249030 A T NF1 Pathogenic stop-gained rs199474789 chr17 31258401 T T NF1 Pathogenic missense rs137854554 chr17 31258406 T T NF1 Pathogenic missense rs137854555 chr17 31261810 T A NF1 Pathogenic stop-gained rs199474792 chr17 31334883 G C NF1 Pathogenic missense rs137854552 chr17 31334927 G T NF1 Pathogenic stop-gained rs267606595 chr17 31334933 G T NF1 Pathogenic stop-gained rs137854561 chr17 31336750 G C NF1 Pathogenic missense rs267606598 chr17 31337514 A A NF1 Pathogenic missense rs28936697 chr17 35575903 A A PEX12 Pathogenic missense rs61752112 chr17 35575913 A A PEX12 Pathogenic missense rs104894616 chr17 35576171 C A PEX12 Pathogenic stop-gained rs1130199 chr17 40291317 G C CDC6 0.0932/203 Benign synonymous-codon rs4135012 chr17 40293996 A A CDC6 0.0078/17 Benign missense rs4135013 chr17 40294009 G T CDC6 0.0092/20 Benign missense rs387906842 chr17 40294388 A G CDC6 Pathogenic missense rs13706 chr17 40300899 T A CDC6 0.2782/606 Benign missense rs61434181 chr17 40819575 A C TMEM99,KRT10 Pathogenic intron-variant,missense rs387906640 chr17 40819609 C T TMEM99,KRT10 Pathogenic intron-variant,stop-gained rs60118264 chr17 40822104 A G TMEM99,KRT10 Pathogenic intron-variant,missense rs58075662 chr17 40822119 G A,G,T TMEM99,KRT10 Pathogenic intron-variant,missense rs58918655 chr17 40866768 G C KRT12 Pathogenic missense rs57019720 chr17 41571482 C T KRT9 Pathogenic missense rs61157095 chr17 41571490 A G KRT9 Pathogenic missense rs57758262 chr17 41571505 G G,T KRT9 Pathogenic missense rs59510579 chr17 41571523 T C,G,T KRT9 Pathogenic missense rs58597584 chr17 41571524 G C KRT9 Pathogenic missense rs60725382 chr17 41584410 T T KRT14 Pathogenic stop-gained rs57358989 chr17 41586478 A T KRT14 Pathogenic missense rs28928893 chr17 41586479 T G KRT14 Pathogenic missense rs59328451 chr17 41610549 T A KRT16 0.0005/1 Pathogenic missense rs59349773 chr17 41612324 G G KRT16 Pathogenic missense rs28928894 chr17 41612327 T G,T KRT16 Pathogenic missense rs121908501 chr17 42210189 A G STAT5B Pathogenic missense rs113994136 chr17 42329642 G A,T STAT3 Pathogenic missense rs113994135 chr17 42329643 G A STAT3 Pathogenic missense rs398123046 chr17 42610535 C G FAM134C,TUBG1 Pathogenic missense,upstream-variant-2KB rs104894566 chr17 42901105 G C G6PC Pathogenic missense rs104894571 chr17 42909353 C G G6PC Pathogenic missense rs104894569 chr17 42909407 A A G6PC Pathogenic missense,stop-gained rs80356484 chr17 42911000 T T G6PC Pathogenic synonymous-codon,utr-variant-3-prime rs80358048 chr17 43045803 T T BRCA1 Pathogenic splice-acceptor-variant rs80358028 chr17 43049120 T T BRCA1 Pathogenic intron-variant,splice-donor-variant rs80357055 chr17 43049140 A T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357284 chr17 43049181 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357219 chr17 43049182 A T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357123 chr17 43057078 C A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80357367 chr17 43057090 G A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs55770810 chr17 43063931 T A,T BRCA1 Pathogenic missense,nc-transcript-variant,synonymous-codon rs80356896 chr17 43063946 A A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80357204 chr17 43067683 G A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80358044 chr17 43074330 C T BRCA1 Pathogenic splice-donor-variant rs80356988 chr17 43074331 T G,T BRCA1 Pathogenic missense,nc-transcript-variant rs80356881 chr17 43074454 A A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80356885 chr17 43074482 C T BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80357437 chr17 43074498 A T BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80358063 chr17 43076487 C T BRCA1 Pathogenic splice-donor-variant rs80357389 chr17 43076488 T A,T BRCA1 Pathogenic missense,nc-transcript-variant rs80357148 chr17 43076492 C A,T BRCA1 Pathogenic missense,nc-transcript-variant,stop-gained rs80357067 chr17 43082422 T A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80356989 chr17 43082539 G A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs397509151 chr17 43082560 C A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80357259 chr17 43091012 A A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80358178 chr17 43091434 C T BRCA1 Pathogenic intron-variant,splice-donor-variant rs398122681 chr17 43091437 A C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357021 chr17 43091516 C A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357262 chr17 43091564 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357343 chr17 43091567 G A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356855 chr17 43091573 A G BRCA1 Benign intron-variant,missense,nc-transcript-variant rs80357461 chr17 43091627 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356866 chr17 43091690 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357208 chr17 43091714 G A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356903 chr17 43091813 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357356 chr17 43091867 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357310 chr17 43091870 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356923 chr17 43091891 T A,T BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs62625307 chr17 43091933 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs16942 chr17 43091983 T C BRCA1 0.3242/706 Benign intron-variant,missense,nc-transcript-variant rs80357369 chr17 43092101 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357136 chr17 43092128 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357018 chr17 43092131 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356971 chr17 43092133 A C,T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357317 chr17 43092222 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357485 chr17 43092245 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357424 chr17 43092353 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357004 chr17 43092482 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs273899696 chr17 43092505 A T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357168 chr17 43092511 A C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356973 chr17 43092662 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357458 chr17 43092699 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357223 chr17 43092731 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357170 chr17 43092854 T A,G BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs80357251 chr17 43092896 T A,T BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs80356925 chr17 43092928 A C,T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356832 chr17 43092963 T C,G BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained,synonymous-codon rs80357131 chr17 43092968 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356951 chr17 43092986 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs28897684 chr17 43093006 C C BRCA1 Benign intron-variant,missense,nc-transcript-variant rs80356982 chr17 43093121 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357381 chr17 43093128 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356945 chr17 43093193 A A,C,T BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs80357444 chr17 43093200 T T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs397507199 chr17 43093202 A C BRCA1 Benign intron-variant,missense,nc-transcript-variant rs80357063 chr17 43093222 A A,T BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs80357449 chr17 43093238 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357298 chr17 43093426 A C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357082 chr17 43093496 G A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357391 chr17 43093514 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356889 chr17 43093532 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356950 chr17 43093661 A A,T BRCA1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained rs80356952 chr17 43093901 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356904 chr17 43093910 C A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356893 chr17 43093919 G A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357427 chr17 43094002 A C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs62625303 chr17 43094060 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80356891 chr17 43094179 A C,T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357417 chr17 43094265 T C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357385 chr17 43094390 C A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357468 chr17 43094415 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357139 chr17 43094429 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs398122627 chr17 43094438 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357215 chr17 43094465 C A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357292 chr17 43094569 A T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357211 chr17 43094582 G A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs273902792 chr17 43094683 A C,T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357331 chr17 43094709 C T BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357392 chr17 43094731 A C BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80358047 chr17 43099773 C T BRCA1 Pathogenic splice-donor-variant rs80358030 chr17 43099774 C A,T BRCA1 Pathogenic splice-donor-variant rs80358155 chr17 43099882 A G BRCA1 Pathogenic intron-variant,splice-acceptor-variant rs80357207 chr17 43104172 G A BRCA1 Pathogenic nc-transcript-variant,stop-gained rs80356888 chr17 43104173 T A,T BRCA1 0.0005/1 Pathogenic nc-transcript-variant,stop-gained rs80357350 chr17 43104928 A A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357234 chr17 43104949 T A BRCA1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs80357471 chr17 43106490 T A BRCA1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs80356864 chr17 43106508 G A,T BRCA1 Pathogenic missense,nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs80358128 chr17 43124015 C C NBR2,BRCA1 Pathogenic splice-donor-variant,upstream-variant-2KB rs80358010 chr17 43124016 C A,G,T NBR2,BRCA1 Pathogenic splice-donor-variant,upstream-variant-2KB rs80357475 chr17 43124094 A A NBR2,BRCA1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs80357111 chr17 43124095 T C,G NBR2,BRCA1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs80357287 chr17 43124096 T C NBR2,BRCA1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs121912750 chr17 44251305 G C SLC4A1 Pathogenic missense rs121912744 chr17 44255707 G T SLC4A1 Pathogenic missense rs121912745 chr17 44255708 C A,T SLC4A1 Pathogenic missense rs121912743 chr17 44255804 G T SLC4A1 Pathogenic missense rs28932769 chr17 44911308 G G GFAP Pathogenic missense rs59565950 chr17 44913333 G A,G,T GFAP Pathogenic missense rs58732244 chr17 44915258 G A GFAP Pathogenic missense rs57120761 chr17 44915261 C A,C GFAP Pathogenic missense rs63750129 chr17 45996612 G C MAPT Pathogenic missense rs63750756 chr17 46010324 A G MAPT Pathogenic intron-variant,missense rs63750912 chr17 46010375 A C MAPT Pathogenic intron-variant,synonymous-codon rs121918452 chr17 47284509 G G ITGB3 Pathogenic missense rs121918445 chr17 47284514 A T ITGB3 Pathogenic missense rs79775494 chr17 47287128 G T ITGB3 Pathogenic missense rs121918449 chr17 47291027 C A ITGB3 Pathogenic missense rs121918451 chr17 47300488 A T ITGB3 Pathogenic stop-gained rs398122374 chr17 47307567 C C RP11-290H9.4,ITGB3 Pathogenic intron-variant,missense rs121918447 chr17 47310169 C C RP11-290H9.4,ITGB3 Pathogenic intron-variant,missense rs72656343 chr17 50186386 C A COL1A1 Pathogenic missense rs72653166 chr17 50189009 C A COL1A1 Pathogenic intron-variant,missense rs72648320 chr17 50195433 A T COL1A1 Pathogenic intron-variant,splice-donor-variant rs72645331 chr17 50196661 A A COL1A1 Pathogenic missense rs56378716 chr17 58279141 T G MPO 0.0073/16 Pathogenic missense rs267606997 chr17 58709926 T A RAD51C Pathogenic missense,nc-transcript-variant rs28936696 chr17 61483470 G G TBX4 Pathogenic missense rs149364097 chr17 61801348 C G BRIP1 Pathogenic missense rs137852985 chr17 61808488 A T BRIP1 Pathogenic missense rs28903098 chr17 61859862 A C BRIP1 Pathogenic missense rs137853221 chr17 63917803 C C GH1 Pathogenic intron-variant,missense rs71640277 chr17 63918016 G G,T GH1 Pathogenic intron-variant,splice-donor-variant rs2070720 chr17 63941413 G C SCN4A 0.4325/942 Benign synonymous-codon rs121908548 chr17 63941517 G T SCN4A Pathogenic missense rs56342400 chr17 63941743 A A,C,T SCN4A 0.1584/344 Benign missense,synonymous-codon rs80338961 chr17 63941799 G A SCN4A Pathogenic missense rs80338791 chr17 63941803 A T SCN4A Pathogenic missense rs121908547 chr17 63943825 T A SCN4A Pathogenic missense rs121908560 chr17 63944694 T T SCN4A Pathogenic missense rs121908551 chr17 63944708 G T SCN4A Pathogenic missense rs201916531 chr17 63945476 G T SCN4A ?/0 Benign missense rs80338956 chr17 63957460 T G SCN4A Pathogenic missense rs80338955 chr17 63957473 C T SCN4A Pathogenic missense rs121908561 chr17 63972197 G C SCN4A Pathogenic missense rs104894632 chr17 64477929 C T POLG2,MILR1 Pathogenic intron-variant,missense,nc-transcript-variant rs397514659 chr17 64492970 G C POLG2 Pathogenic missense,nc-transcript-variant rs281864780 chr17 68515481 A T LOC102724296,PRKAR1A Pathogenic downstream-variant-500B,stop-gained rs281864781 chr17 68515508 A T LOC102724296,PRKAR1A Pathogenic downstream-variant-500B,stop-gained rs74863634 chr17 68522782 C A PRKAR1A 0.0046/10 Benign synonymous-codon rs137853303 chr17 68522798 G T PRKAR1A Pathogenic missense rs281864798 chr17 68525913 T T PRKAR1A Pathogenic splice-donor-variant rs387906695 chr17 68530283 T C PRKAR1A Pathogenic intron-variant,missense rs387906692 chr17 68530405 G T PRKAR1A Pathogenic intron-variant,stop-gained rs144411158 chr17 68555742 C A FAM20A 0.0005/1 Pathogenic missense,nc-transcript-variant,synonymous-codon,utr-variant-5-prime rs199473650 chr17 70175200 T T KCNJ2 Pathogenic missense rs199473370 chr17 70175262 C G KCNJ2 Pathogenic missense rs104894585 chr17 70175263 G G,T KCNJ2 Pathogenic missense rs199473380 chr17 70175500 C T KCNJ2 Pathogenic missense rs104894584 chr17 70175553 A A KCNJ2 Pathogenic missense rs104894581 chr17 70175596 A T KCNJ2 Pathogenic missense rs199473381 chr17 70175605 A T KCNJ2 Pathogenic missense rs199473382 chr17 70175613 C G KCNJ2 Pathogenic missense rs199473655 chr17 70175614 T T KCNJ2 Pathogenic missense rs199473385 chr17 70175818 T C KCNJ2 Pathogenic missense rs199473389 chr17 70175973 G T KCNJ2 Pathogenic missense rs2229989 chr17 72122794 C T SOX9 0.1240/270 Benign synonymous-codon rs117344829 chr17 73200000 G T COG1 0.0060/13 Benign missense rs1026128 chr17 73200670 T G COG1 0.4440/966 Benign missense rs62621249 chr17 73201184 A C COG1 0.0551/119 Benign missense rs121912467 chr17 75752221 G T ITGB4 Pathogenic missense rs118204092 chr17 75953469 G C ACOX1 Pathogenic missense rs118204091 chr17 75957465 A A ACOX1 Pathogenic missense rs118204093 chr17 75957555 A A ACOX1 Pathogenic stop-gained rs121908328 chr17 78119382 G A TMC6 Pathogenic nc-transcript-variant,stop-gained rs121908329 chr17 78124671 T T TMC6 Pathogenic nc-transcript-variant,stop-gained rs387907081 chr17 78993677 C T CANT1 Pathogenic missense,nc-transcript-variant rs387907092 chr17 80082020 A T CCDC40 Pathogenic stop-gained rs121907937 chr17 80110950 A A GAA Pathogenic missense rs11549223 chr17 81510690 T C ACTG1 0.0436/95 Benign nc-transcript-variant,synonymous-codon rs267606630 chr17 81511912 T G ACTG1 Pathogenic missense,nc-transcript-variant rs104894544 chr17 81511913 T A ACTG1 Pathogenic missense,nc-transcript-variant rs397514623 chr18 2707567 C T SMCHD1 Pathogenic missense,nc-transcript-variant rs34676691 chr18 2937817 G A LPIN2 0.0009/2 Benign missense,nc-transcript-variant rs121909067 chr18 3456525 T G TGIF1 Pathogenic missense rs28939693 chr18 3457441 G T TGIF1 Pathogenic missense rs398122925 chr18 11824987 A A GNAL Pathogenic missense,nc-transcript-variant rs151344521 chr18 12337435 C T AFG3L2 Pathogenic missense rs151344520 chr18 12337445 A T AFG3L2 Pathogenic missense rs387906889 chr18 12340334 A C AFG3L2 Pathogenic missense rs11553521 chr18 12348286 T C AFG3L2 0.2851/621 Benign synonymous-codon rs104894656 chr18 13885159 C C MC2R Pathogenic missense rs104894661 chr18 13885200 G T MC2R Pathogenic missense rs104894658 chr18 13885298 T A MC2R Pathogenic missense rs200035428 chr18 21858593 T T MIB1 0.0005/1 Pathogenic missense rs1805084 chr18 23532242 G T C18orf8,NPC1 0.1410/306 Benign downstream-variant-500B,intron-variant,missense rs28942105 chr18 23535479 T C NPC1 Pathogenic missense rs80358259 chr18 23536736 T G NPC1 Pathogenic missense rs80358258 chr18 23536758 G T NPC1 Pathogenic missense rs120074132 chr18 23539393 G T NPC1 Pathogenic missense rs120074135 chr18 23539418 C T NPC1 Pathogenic missense rs1805082 chr18 23540480 A C NPC1 0.4959/1080 Benign missense rs80358253 chr18 23541355 G G NPC1 Pathogenic missense rs120074134 chr18 23556436 C G NPC1 Pathogenic missense rs12970899 chr18 23568899 T G NPC1 0.1006/219 Benign synonymous-codon rs137852757 chr18 23907639 G T LAMA3 Pathogenic stop-gained rs80356679 chr18 23907863 G T LAMA3 Pathogenic stop-gained rs61731920 chr18 31068105 C A DSC2 0.0009/2 Benign synonymous-codon,utr-variant-3-prime rs117812913 chr18 31092104 G C DSC2 0.0069/14 Benign synonymous-codon,utr-variant-5-prime rs397515639 chr18 31326608 G T DSG1 Pathogenic stop-gained rs267606777 chr18 31392200 G T RP11-534N16.1,DSG4 Pathogenic intron-variant,stop-gained rs121913012 chr18 31524865 A A DSG2 Pathogenic missense rs121913009 chr18 31536298 T A DSG2 Pathogenic missense rs35743180 chr18 31538974 C C DSG2 0.0009/2 Benign synonymous-codon rs79241126 chr18 31542655 A A RP11-75N4.2,DSG2 0.0376/81 Benign intron-variant,missense rs1042769 chr18 31545891 C G RP11-75N4.2,DSG2 0.1869/407 Benign nc-transcript-variant,synonymous-codon rs78310842 chr18 31545972 A C RP11-75N4.2,DSG2 0.0032/7 Benign intron-variant,synonymous-codon rs16962093 chr18 31545973 T C RP11-75N4.2,DSG2 0.0037/7 Benign intron-variant,missense rs1791235 chr18 31546707 A C RP11-75N4.2,DSG2 0.4568/994 Benign intron-variant,synonymous-codon rs121918094 chr18 31592921 G C TTR Pathogenic missense rs121918098 chr18 31592939 T G TTR Pathogenic missense rs28933979 chr18 31592974 T A,C TTR Pathogenic missense rs79977247 chr18 31592975 G C,G TTR Pathogenic missense rs121918077 chr18 31592992 C C TTR Pathogenic missense rs387906523 chr18 31593025 G A,C TTR Pathogenic missense rs121918090 chr18 31593026 G C TTR Pathogenic missense rs121918070 chr18 31595157 C G TTR Pathogenic missense rs121918086 chr18 31595160 A A TTR Pathogenic missense rs121918091 chr18 31595169 T C TTR Pathogenic missense rs267607160 chr18 31595189 G C TTR Pathogenic missense rs121918084 chr18 31595191 G C TTR Pathogenic missense rs121918071 chr18 31595209 T A TTR Pathogenic missense rs147759402 chr18 34794119 G T DTNA 0.0023/4 Benign synonymous-codon rs61737438 chr18 34820913 G T DTNA 0.0041/8 Benign intron-variant,synonymous-codon rs1377016 chr18 46483635 C A LOXHD1 0.4086/890 Benign missense rs12606417 chr18 46524474 C C LOXHD1 0.0702/152 Benign missense rs7244681 chr18 46534399 T A LOXHD1 0.0207/45 Benign missense rs2086005 chr18 46569511 T A LOXHD1 0.0794/173 Benign synonymous-codon rs120074165 chr18 49118866 G G DYM Pathogenic intron-variant,missense rs120074163 chr18 49257065 T A DYM Pathogenic missense rs121908103 chr18 50036982 C C MYO5B Pathogenic missense rs377767326 chr18 51048839 G T SMAD4 Pathogenic stop-gained rs377767386 chr18 51048861 T A SMAD4 Pathogenic splice-donor-variant rs377767329 chr18 51049307 A A SMAD4 Pathogenic stop-gained rs377767331 chr18 51054859 A G SMAD4 Pathogenic stop-gained rs377767332 chr18 51054864 A T SMAD4 Pathogenic stop-gained rs377767339 chr18 51065437 G C SMAD4 Pathogenic missense rs377767342 chr18 51065455 A A SMAD4 Pathogenic missense rs281875324 chr18 51065456 A G SMAD4 Pathogenic missense rs121912581 chr18 51065521 G A SMAD4 Pathogenic missense rs377767345 chr18 51065522 A A SMAD4 Pathogenic missense rs377767346 chr18 51065525 C C SMAD4 Pathogenic missense rs377767353 chr18 51065606 G A SMAD4 Pathogenic missense rs377767354 chr18 51065607 T A SMAD4 Pathogenic splice-donor-variant rs377767355 chr18 51067027 A A SMAD4 Pathogenic missense rs121912580 chr18 51067036 T A SMAD4 Pathogenic missense rs80338964 chr18 51067041 A T SMAD4 Pathogenic stop-gained rs377767356 chr18 51067047 A A SMAD4 Pathogenic missense rs377767357 chr18 51067072 G A SMAD4 Pathogenic stop-gained rs377767367 chr18 51078280 T T SMAD4 Pathogenic missense rs377767368 chr18 51078286 T C SMAD4 Pathogenic missense rs397518413 chr18 51078294 G T SMAD4 Pathogenic missense rs281875322 chr18 51078306 T G SMAD4 Pathogenic missense rs377767375 chr18 51078379 G T SMAD4 Pathogenic missense rs121909122 chr18 55254694 G A TCF4 Pathogenic stop-gained rs398123560 chr18 55257375 C T TCF4 Pathogenic intron-variant,stop-gained rs118204039 chr18 57550734 A G FECH Pathogenic missense rs146899669 chr18 57550753 G C FECH Pathogenic missense rs118204037 chr18 57559148 A A,T FECH 0.0005/1 Pathogenic missense rs397514476 chr18 57566492 C T FECH Pathogenic missense rs121909105 chr18 57674849 C A ATP8B1 Pathogenic stop-gained rs34719006 chr18 57706561 G A,G ATP8B1 0.0037/7 Pathogenic missense rs121908251 chr18 59469568 A G CCBE1 Pathogenic missense,utr-variant-5-prime rs121913564 chr18 60371403 T C MC4R Pathogenic missense rs52804924 chr18 60371454 G T MC4R Pathogenic missense rs121913561 chr18 60371529 T C MC4R Pathogenic missense rs121913562 chr18 60371538 A T MC4R Pathogenic missense rs121913567 chr18 60371694 C A MC4R Pathogenic missense rs121913563 chr18 60371827 C T MC4R Pathogenic missense rs121913560 chr18 60371842 G C MC4R 0.0014/2 Pathogenic missense rs13447331 chr18 60371970 A A MC4R Pathogenic missense rs121913559 chr18 60372045 T C MC4R Pathogenic missense rs121913565 chr18 60372061 T C MC4R Pathogenic missense rs121913566 chr18 60372165 T C MC4R Pathogenic missense rs121913558 chr18 60372178 G A MC4R Pathogenic missense rs121913557 chr18 60372202 C T MC4R Pathogenic missense rs397514475 chr18 62095902 G T PIGN Pathogenic missense rs121908659 chr18 62348249 G C TNFRSF11A Pathogenic missense rs121908658 chr18 62361793 G T TNFRSF11A Pathogenic intron-variant,missense,stop-gained rs142859678 chr18 63804288 G T SERPINB7 0.0037/7 Pathogenic stop-gained rs2304378 chr18 70020624 A C RTTN 0.1667/363 Benign synonymous-codon rs34749812 chr18 70020777 G G RTTN 0.0064/14 Benign synonymous-codon rs34717557 chr18 70054256 A C RTTN 0.0055/11 Benign missense,nc-transcript-variant rs35409908 chr18 70059940 T G RTTN 0.0138/29 Benign missense,nc-transcript-variant rs34533087 chr18 70114547 C C RTTN 0.0078/17 Benign missense,nc-transcript-variant rs34353615 chr18 70168879 T T RTTN 0.0055/11 Benign missense,nc-transcript-variant,utr-variant-5-prime rs141156594 chr18 70196537 G G RTTN 0.0087/19 Benign missense,nc-transcript-variant,utr-variant-5-prime rs3911730 chr18 70204107 G C RTTN 0.2351/511 Benign missense,nc-transcript-variant,utr-variant-5-prime rs201884120 chr18 70205267 A T RTTN Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs75994611 chr18 74631200 G G ZNF407 0.0115/24 Benign missense rs3794942 chr18 74631225 T G ZNF407 0.0744/162 Benign missense rs77148611 chr18 74632096 G G ZNF407 0.0096/20 Benign synonymous-codon rs3794941 chr18 74632267 G C ZNF407 0.2020/439 Benign synonymous-codon rs17817969 chr18 74632282 G T ZNF407 0.0790/171 Benign synonymous-codon rs7227391 chr18 74632597 T A ZNF407 0.0794/173 Benign synonymous-codon rs78076450 chr18 74634094 G C ZNF407 0.0193/41 Benign synonymous-codon rs137853076 chr19 1207163 A T STK11 Pathogenic stop-gained rs137853083 chr19 1221216 A G STK11 Pathogenic stop-gained rs121913157 chr19 7120739 A T INSR Pathogenic missense rs121913137 chr19 7152862 G A INSR Pathogenic stop-gained rs121913155 chr19 7267555 C A INSR Pathogenic stop-gained rs121913159 chr19 7267559 A C INSR Pathogenic missense rs52836744 chr19 7267825 T T INSR Pathogenic missense rs121913152 chr19 7267833 C G INSR Pathogenic missense rs121913143 chr19 7267871 T T INSR Pathogenic missense rs121434359 chr19 8597075 C A ADAMTS10 Pathogenic nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs387906266 chr19 8600927 A T ADAMTS10 Pathogenic splice-donor-variant rs397514735 chr19 10795378 T G DNM2 Pathogenic missense rs121909088 chr19 10819992 A G DNM2 Pathogenic missense rs281875226 chr19 11019661 G T SMARCA4 Pathogenic missense rs121908040 chr19 11106652 C T LDLR Pathogenic intron-variant,missense,nc-transcript-variant rs121917831 chr19 11378233 T C EPOR Pathogenic nc-transcript-variant,stop-gained rs387906668 chr19 11576839 T A ACP5 Pathogenic missense rs121434368 chr19 12899471 A T SYCE2,GCDH Pathogenic intron-variant,missense,nc-transcript-variant rs387907253 chr19 13073055 A T NFIX Pathogenic stop-gained rs121908214 chr19 13230185 G G CACNA1A Pathogenic missense rs121909326 chr19 13235219 T G CACNA1A Pathogenic missense rs121908219 chr19 13261552 A C CACNA1A Pathogenic missense rs16030 chr19 13277090 A G CACNA1A 0.1621/352 Benign synonymous-codon rs121909323 chr19 13277122 C A CACNA1A Pathogenic stop-gained rs16019 chr19 13300637 C G CACNA1A 0.0069/14 Benign missense rs16016 chr19 13303780 G T CACNA1A 0.1685/366 Benign synonymous-codon rs121908217 chr19 13308452 G T CACNA1A Pathogenic missense rs121908225 chr19 13365448 A A CACNA1A Pathogenic missense rs199469705 chr19 14564841 T T TECR Pathogenic missense,nc-transcript-variant rs28933698 chr19 15189004 G G NOTCH3 Pathogenic missense rs142951029 chr19 16490519 T C CALR3 0.0005/1 Pathogenic missense rs397515513 chr19 18784236 A C COMP Pathogenic missense rs121917723 chr19 33401855 C T PEPD Pathogenic missense rs121917722 chr19 33464060 G T PEPD Pathogenic intron-variant,missense rs137853585 chr19 34399974 A A GPI Pathogenic missense rs267606919 chr19 35831056 G A NPHS1 Pathogenic stop-gained rs267607176 chr19 36067415 G C WDR62 Pathogenic missense rs387907082 chr19 36081512 C A WDR62 Pathogenic missense rs387907083 chr19 36083222 A A WDR62 Pathogenic missense rs121908403 chr19 38290215 T G SPINT2 Pathogenic missense rs2229139 chr19 38444640 T G RYR1 0.3967/863 Benign synonymous-codon rs118192162 chr19 38455359 T C,G RYR1 Pathogenic missense rs11083462 chr19 38469040 G T RYR1 0.3944/859 Benign synonymous-codon rs367543056 chr19 38490709 T T RYR1 Pathogenic missense rs118192121 chr19 38496910 A C RYR1 Pathogenic missense rs2915951 chr19 38504870 G C RYR1 0.3655/796 Benign synonymous-codon rs2915952 chr19 38505335 A A RYR1 0.3508/764 Benign synonymous-codon rs111364670 chr19 38510566 T A,T RYR1 Pathogenic splice-donor-variant rs367543057 chr19 38517651 C A RYR1 Pathogenic missense rs118192132 chr19 38572163 A A RYR1 Pathogenic missense rs118192133 chr19 38572172 A A RYR1 Pathogenic missense rs118192141 chr19 38575959 A C RYR1 Pathogenic missense rs1468571 chr19 38578001 G C RYR1 0.1400/305 Benign synonymous-codon rs118192181 chr19 38580439 G T RYR1 Pathogenic missense rs63749869 chr19 38580440 C A RYR1 Pathogenic missense rs118192146 chr19 38580449 C G RYR1 Pathogenic missense rs118192147 chr19 38584955 A T RYR1 Pathogenic missense rs118192154 chr19 38585037 G C RYR1 Pathogenic missense rs118192155 chr19 38585055 C A RYR1 Pathogenic missense rs118192156 chr19 38585058 C C RYR1 Pathogenic missense rs121908416 chr19 38710299 C T ACTN4 Pathogenic intron-variant,missense rs121908417 chr19 38710307 C C ACTN4 Pathogenic intron-variant,missense rs104894707 chr19 40396207 C T PRX Pathogenic stop-gained,utr-variant-3-prime rs111033610 chr19 40847036 G G CYP2A6 0.0014/2 Pathogenic missense rs137852876 chr19 41422309 C G BCKDHA Pathogenic missense rs137852873 chr19 41422310 G T BCKDHA Pathogenic missense rs398123509 chr19 41422680 T C BCKDHA Pathogenic missense rs137852872 chr19 41424496 C G BCKDHA Pathogenic missense rs398123490 chr19 41424504 T A BCKDHA Pathogenic missense rs398122887 chr19 41967744 G T ATP1A3 Pathogenic missense rs387906987 chr19 43508816 G C ETHE1 Pathogenic missense rs120074115 chr19 44948787 G C APOC4-APOC2,APOC2 Pathogenic missense,nc-transcript-variant rs120074111 chr19 44948822 G A,G,T APOC4-APOC2,APOC2 Pathogenic nc-transcript-variant,stop-gained rs5122 chr19 44948823 A A APOC4-APOC2,APOC2 0.0018/4 Pathogenic missense,nc-transcript-variant rs121434560 chr19 48133011 G T LIG1 Pathogenic missense,nc-transcript-variant rs172149856 chr19 49188641 G A TRPM4 0.0009/2 Pathogenic missense rs139365610 chr19 49807348 T A,T AP2A1,FUZ Pathogenic downstream-variant-500B,missense,nc-transcript-variant,utr-variant-3-prime rs892028 chr19 49908485 T C,G NUP62,IL4I1 0.0266/57 Benign intron-variant,missense,synonymous-codon rs34796700 chr19 50217683 G C MYH14 0.0133/29 Benign synonymous-codon rs61734424 chr19 50244276 G C MYH14 0.0597/130 Benign synonymous-codon rs119103280 chr19 50244277 G T MYH14 0.0028/5 Pathogenic missense rs386134160 chr19 53884187 G A PRKCG Pathogenic missense rs104895503 chr19 54930571 T C NLRP7 0.0018/4 Pathogenic missense,nc-transcript-variant rs104895502 chr19 54938095 G G,T NLRP7 Pathogenic missense,nc-transcript-variant rs104895506 chr19 54938096 C A NLRP7 Pathogenic missense,nc-transcript-variant rs397515484 chr19 57233458 G G AURKC Pathogenic splice-acceptor-variant rs104893669 chr2 1484596 T T LOC102723717,TPO Pathogenic downstream-variant-500B,missense,nc-transcript-variant rs121908082 chr2 1487841 G T TPO Pathogenic intron-variant,nc-transcript-variant,stop-gained rs121908088 chr2 1494011 A G TPO 0.0005/1 Pathogenic missense,nc-transcript-variant rs35927125 chr2 10046292 G G,T KLF11 0.0634/138 Benign missense rs34336420 chr2 10047996 G T KLF11 0.0078/17 Pathogenic missense rs369698072 chr2 15238670 G A,T NBAS Pathogenic missense,nc-transcript-variant rs397515535 chr2 19931354 A C WDR35 Pathogenic missense,nc-transcript-variant rs267607175 chr2 19933469 T T WDR35 Pathogenic missense,nc-transcript-variant rs149667250 chr2 19933493 A A WDR35 0.0060/13 Benign missense,nc-transcript-variant rs387907085 chr2 19946495 A A WDR35 Pathogenic nc-transcript-variant,stop-gained rs397515533 chr2 19946536 G G WDR35 Pathogenic missense,nc-transcript-variant rs397515536 chr2 19975596 C T WDR35 Pathogenic missense,nc-transcript-variant rs104893645 chr2 20005953 C T MATN3 Pathogenic missense rs1042031 chr2 21002881 T T APOB 0.1529/333 Benign missense rs12713559 chr2 21006196 T A APOB 0.0005/1 Pathogenic missense rs5742904 chr2 21006288 G T APOB Pathogenic missense rs676210 chr2 21008652 G A APOB 0.3379/736 Benign missense rs121918390 chr2 21009304 G A APOB Pathogenic stop-gained rs693 chr2 21009323 G A APOB 0.2741/597 Benign synonymous-codon rs121918388 chr2 21010033 G A APOB Pathogenic stop-gained rs121918391 chr2 21015169 T T APOB Pathogenic stop-gained rs12691202 chr2 21026844 A T APOB 0.0225/48 Benign missense rs679899 chr2 21028042 C A APOB 0.4917/1071 Benign missense rs137852771 chr2 26194581 G A HADHA Pathogenic stop-gained rs137852769 chr2 26195184 C G HADHA ?/0 Pathogenic missense rs147103714 chr2 26238957 A T HADHA Pathogenic synonymous-codon rs121913133 chr2 26279244 C A HADHB Pathogenic missense rs121913131 chr2 26279292 T G HADHB Pathogenic missense rs121913134 chr2 26285513 A A HADHB Pathogenic missense rs80356598 chr2 26467186 C T OTOF Pathogenic stop-gained rs397515601 chr2 26467364 C A OTOF Pathogenic splice-donor-variant rs397515589 chr2 26480274 C T OTOF Pathogenic missense rs61739877 chr2 26484494 G C,T OTOF 0.0051/11 Benign synonymous-codon rs41288779 chr2 26489693 T T OTOF 0.0487/105 Benign missense rs116525289 chr2 26537725 T A OTOF 0.0478/103 Benign synonymous-codon rs398123043 chr2 26727958 C G KCNK3 Pathogenic missense rs121909722 chr2 27309945 T T MPV17,UCN Pathogenic missense,upstream-variant-2KB rs267607259 chr2 27309958 C T MPV17,UCN Pathogenic missense,upstream-variant-2KB rs267607256 chr2 27312697 C C MPV17 Pathogenic missense rs113994040 chr2 27364507 G G EIF2B4 Pathogenic missense rs113994037 chr2 27366758 C T EIF2B4 Pathogenic splice-donor-variant rs113994035 chr2 27366830 T A EIF2B4 Pathogenic missense rs78599355 chr2 27367171 A C EIF2B4 0.0110/24 Benign missense rs41288829 chr2 27367799 G T EIF2B4 0.0142/30 Benign synonymous-codon rs267606690 chr2 29073661 T A C2orf71 Pathogenic missense rs113994092 chr2 29209873 T G ALK Pathogenic missense rs281864719 chr2 29220831 T C ALK Pathogenic missense rs121434253 chr2 31529414 T A SRD5A2 Pathogenic missense rs121434250 chr2 31529419 G T SRD5A2 Pathogenic missense rs121434247 chr2 31531371 T T SRD5A2 Pathogenic missense rs121908509 chr2 32116199 T G SPAST Pathogenic missense rs121908512 chr2 32136877 T G SPAST Pathogenic missense rs4986888 chr2 38071026 C C CYP1B1 0.0138/29 Benign missense rs145364368 chr2 38997006 T G SOS1 0.0014/2 Benign missense rs267607079 chr2 39022772 C A,G SOS1 Pathogenic missense rs397517154 chr2 39022773 T G,T SOS1 Pathogenic missense rs137852814 chr2 39022774 T C SOS1 Pathogenic missense rs397517153 chr2 39022779 G G SOS1 Pathogenic missense rs397517149 chr2 39022786 C G SOS1 Pathogenic missense rs137852813 chr2 39051202 T C,G SOS1 Pathogenic missense rs137852812 chr2 39051211 T T SOS1 Pathogenic missense rs55980502 chr2 39054764 T A SOS1 0.0023/4 Benign synonymous-codon rs397517172 chr2 39056704 G C SOS1 Pathogenic missense rs119480069 chr2 43824071 G T DYNC2LI1,ABCG5 Pathogenic intron-variant,missense rs387906912 chr2 43838634 G A ABCG5,ABCG8 Pathogenic stop-gained,upstream-variant-2KB rs137852987 chr2 43872094 A A ABCG8 Pathogenic stop-gained rs137852989 chr2 43877865 T G ABCG8 Pathogenic stop-gained rs6741066 chr2 43982338 T T LRPPRC 0.4807/1046 Benign synonymous-codon rs121912694 chr2 44280827 G A SLC3A1 Pathogenic missense rs387907276 chr2 44313931 A A SLC3A1 Pathogenic missense rs121912695 chr2 44320536 G G SLC3A1,PREPL Pathogenic missense,utr-variant-3-prime rs121912693 chr2 44320614 G C SLC3A1,PREPL Pathogenic missense,utr-variant-3-prime rs387906867 chr2 44942489 A T SIX3-AS1,SIX3 Pathogenic stop-gained,upstream-variant-2KB rs121917880 chr2 44942853 A C SIX3-AS1,SIX3 Pathogenic missense,upstream-variant-2KB rs137852913 chr2 46905517 T C MCFD2 Pathogenic missense rs267606785 chr2 47373820 T A EPCAM Pathogenic missense rs397514661 chr2 47374035 G T EPCAM Pathogenic stop-gained rs63750042 chr2 47408415 A T MSH2 Pathogenic stop-gained rs63750970 chr2 47408478 A T MSH2 ?/0 Pathogenic stop-gained rs17217772 chr2 47410107 T G MSH2 0.0188/40 Benign missense rs63750910 chr2 47410152 A G MSH2 Pathogenic stop-gained rs63750214 chr2 47410215 T A MSH2 Pathogenic missense rs63750582 chr2 47410217 G A,T MSH2 Pathogenic missense rs63750843 chr2 47410235 A G,T MSH2 Pathogenic stop-gained rs63750382 chr2 47410256 A A,T MSH2 Pathogenic missense,stop-gained rs63750037 chr2 47410274 A T MSH2 Pathogenic stop-gained rs63751444 chr2 47410287 T C,G MSH2 Pathogenic missense rs267607689 chr2 47410373 T A,T MSH2 Pathogenic splice-donor-variant rs63750276 chr2 47414335 G T MSH2 Pathogenic stop-gained rs63750097 chr2 47414338 A T MSH2 Pathogenic stop-gained rs63749915 chr2 47414377 A T MSH2 Pathogenic stop-gained rs63749914 chr2 47414381 G A MSH2 Pathogenic stop-gained rs4987188 chr2 47416318 C A MSH2 0.0092/20 Benign missense rs63750245 chr2 47416383 A T MSH2 Pathogenic stop-gained rs63751027 chr2 47416387 G A MSH2 Pathogenic stop-gained rs63750396 chr2 47416388 A A MSH2 Pathogenic stop-gained rs63750558 chr2 47429785 A T MSH2 Pathogenic stop-gained rs63750267 chr2 47429794 A T MSH2 Pathogenic stop-gained rs63749849 chr2 47429812 G T MSH2 Pathogenic stop-gained rs63750302 chr2 47429848 A T MSH2 Pathogenic stop-gained rs63750611 chr2 47429854 A T MSH2 Pathogenic stop-gained rs63751412 chr2 47429869 A T MSH2 Pathogenic stop-gained rs63751271 chr2 47429880 C A MSH2 Pathogenic stop-gained rs63751108 chr2 47429881 G T MSH2 Pathogenic stop-gained rs63749920 chr2 47445616 A T MSH2 Pathogenic stop-gained rs267607962 chr2 47466656 G G MSH2 Pathogenic splice-acceptor-variant rs63750780 chr2 47466699 A T MSH2 Pathogenic stop-gained rs63750224 chr2 47466713 T G MSH2 Pathogenic stop-gained rs63751207 chr2 47466718 T C,T MSH2 Pathogenic missense rs63751298 chr2 47471023 A T MSH2 Pathogenic stop-gained rs63750200 chr2 47475042 A T MSH2 Pathogenic stop-gained rs63750047 chr2 47475066 A T MSH2 Pathogenic stop-gained rs63750493 chr2 47475100 A G MSH2 Pathogenic stop-gained rs63750312 chr2 47475122 G G MSH2 Pathogenic stop-gained rs28929484 chr2 47475180 A T MSH2 Pathogenic missense rs63749993 chr2 47476424 G G MSH2 Pathogenic missense rs63749802 chr2 47476552 A T MSH2 Pathogenic stop-gained rs63751119 chr2 47478312 G A MSH2 Pathogenic missense rs63749854 chr2 47478336 G T MSH2 Pathogenic stop-gained rs386833406 chr2 47478337 A A MSH2 Benign missense rs63751105 chr2 47478353 G A MSH2 Pathogenic stop-gained rs34986638 chr2 47478483 A T MSH2 Pathogenic stop-gained rs63751018 chr2 47478493 A G MSH2 Pathogenic stop-gained rs63750857 chr2 47480773 A T MSH2 Pathogenic stop-gained rs63749830 chr2 47480812 A T MSH2 Pathogenic stop-gained rs267608036 chr2 47791125 A A MSH6 Pathogenic intron-variant,splice-donor-variant rs1800937 chr2 47798625 G A,T MSH6 0.0496/108 Pathogenic stop-gained,synonymous-codon,utr-variant-5-prime rs63750996 chr2 47798689 A T MSH6 Pathogenic stop-gained,utr-variant-5-prime rs267608048 chr2 47798738 A G MSH6 Pathogenic stop-gained,utr-variant-5-prime rs63750552 chr2 47798797 A T MSH6 Pathogenic stop-gained,utr-variant-5-prime rs63750909 chr2 47799427 G T MSH6 Pathogenic stop-gained rs267608046 chr2 47799460 A T MSH6 Pathogenic stop-gained rs63750564 chr2 47799818 A A MSH6 Pathogenic stop-gained rs267608068 chr2 47800044 G A MSH6 Pathogenic stop-gained rs63751442 chr2 47800174 A T MSH6 Pathogenic stop-gained rs63751127 chr2 47800177 G T MSH6 Pathogenic stop-gained rs2020913 chr2 47800236 G C MSH6 0.0147/32 Benign synonymous-codon rs63751017 chr2 47800714 G T MSH6 Pathogenic stop-gained rs63750140 chr2 47800798 A T MSH6 Pathogenic stop-gained rs63750111 chr2 47800914 C G MSH6 Pathogenic stop-gained rs63750258 chr2 47800966 A T MSH6 Pathogenic stop-gained rs63750563 chr2 47800996 G T MSH6 Pathogenic stop-gained rs267608059 chr2 47801050 A T MSH6 Pathogenic stop-gained rs63749999 chr2 47801086 G T MSH6 Pathogenic stop-gained rs267608084 chr2 47803602 A T MSH6 Pathogenic stop-gained rs63750356 chr2 47803683 A T MSH6 Pathogenic stop-gained rs267608094 chr2 47806641 G T MSH6,FBXO11 Pathogenic downstream-variant-500B,stop-gained rs121912525 chr2 48687950 A T STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912520 chr2 48688020 A G STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912518 chr2 48688064 C C STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912521 chr2 48688067 T A STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912537 chr2 48688170 A G STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912531 chr2 48688173 T G STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912535 chr2 48688427 G C STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912533 chr2 48688694 G G STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121912539 chr2 48723650 C A,T STON1-GTF2A1L,LHCGR 0.0005/1 Pathogenic intron-variant,missense rs121912527 chr2 48723689 G G STON1-GTF2A1L,LHCGR Pathogenic intron-variant,missense rs121909664 chr2 48963187 T G FSHR Pathogenic missense rs121909661 chr2 48963566 A T FSHR Pathogenic missense rs121909658 chr2 48983125 C A FSHR Pathogenic missense rs80094872 chr2 50236927 G T NRXN1 0.0069/14 Benign synonymous-codon rs267606922 chr2 50496039 A C NRXN1 Pathogenic stop-gained rs115211871 chr2 50506571 T A NRXN1 0.0060/13 Benign synonymous-codon rs397514599 chr2 55656148 C C PNPT1 Pathogenic missense rs397514598 chr2 55667007 G C PNPT1 Pathogenic missense rs121434491 chr2 55871091 G A EFEMP1 Pathogenic missense rs61752115 chr2 61048535 A C PEX13 Pathogenic missense rs267606793 chr2 61836075 T A FAM161A Pathogenic nc-transcript-variant,stop-gained rs202193201 chr2 61839437 T A,C FAM161A 0.0005/1 Pathogenic missense,nc-transcript-variant,synonymous-codon rs200691042 chr2 61839695 C A FAM161A Pathogenic nc-transcript-variant,stop-gained rs397514700 chr2 69075602 G T ANTXR1 Pathogenic stop-gained rs78952091 chr2 69354499 A A GFPT1 0.0560/122 Benign synonymous-codon rs2230300 chr2 69370077 T G GFPT1 0.0133/29 Benign synonymous-codon rs387906638 chr2 69374078 T C GFPT1 Pathogenic missense rs374514431 chr2 69400462 C A NFU1 Pathogenic intron-variant,missense,nc-transcript-variant rs116139984 chr2 70960989 G T ATP6V1B1 0.0285/62 Benign synonymous-codon rs34387018 chr2 71539181 G T DYSF 0.0110/24 Benign synonymous-codon rs2303596 chr2 71553085 G C DYSF 0.4132/899 Benign synonymous-codon rs34671418 chr2 71564202 T G DYSF 0.0275/59 Benign missense rs28937581 chr2 71570300 T T DYSF Pathogenic missense rs61738567 chr2 71613376 C G DYSF 0.0064/14 Benign missense rs398123789 chr2 71658995 G T DYSF Pathogenic stop-gained rs398123794 chr2 71669191 A A DYSF Pathogenic missense rs17718530 chr2 71679148 G C,T DYSF 0.1708/372 Benign synonymous-codon rs121917746 chr2 72888364 A T SPR Pathogenic stop-gained rs397514576 chr2 73572819 A T ALMS1 Pathogenic stop-gained rs193919339 chr2 73572866 A A ALMS1 Pathogenic stop-gained rs397509387 chr2 73830981 G G STAMBP Pathogenic missense rs397509389 chr2 73844893 T T STAMBP Pathogenic intron-variant,utr-variant-5-prime rs397514697 chr2 73845186 T A STAMBP Pathogenic missense,utr-variant-5-prime rs104893631 chr2 73946888 G A DGUOK Pathogenic missense,nc-transcript-variant rs72466487 chr2 74378058 G G DCTN1 Pathogenic missense,nc-transcript-variant rs121909292 chr2 74461835 G G MOGS Pathogenic missense rs1063588 chr2 74463251 A T MOGS 0.4876/1061 Benign missense rs121909675 chr2 85553045 G C GGCX Pathogenic missense rs121909684 chr2 85553488 A A GGCX Pathogenic missense rs121909677 chr2 85553491 A G GGCX Pathogenic missense rs1138484 chr2 85861188 G C ST3GAL5 0.1850/402 Benign missense,nc-transcript-variant rs387906264 chr2 86254816 G C REEP1 Pathogenic intron-variant,splice-acceptor-variant rs121918262 chr2 86282216 C T REEP1 Pathogenic intron-variant,missense,utr-variant-5-prime rs121918660 chr2 86790400 C T CD8A Pathogenic missense,nc-transcript-variant rs397514575 chr2 96290415 A C SNRNP200 Pathogenic missense rs104893620 chr2 98395999 G T CNGA3 Pathogenic missense rs104893616 chr2 98396042 A G CNGA3 Pathogenic missense rs139644436 chr2 105373569 G A FHL2 0.0032/7 Benign synonymous-codon rs121908456 chr2 108897194 G A EDAR Pathogenic stop-gained rs121908450 chr2 108929288 G T EDAR Pathogenic missense rs11675767 chr2 110165126 T T NPHP1 0.4522/985 Benign synonymous-codon rs121907898 chr2 110201484 A T NPHP1 Pathogenic stop-gained rs119489105 chr2 112008466 G T MERTK Pathogenic stop-gained rs387907314 chr2 112021555 G T MERTK Pathogenic downstream-variant-500B,stop-gained rs387906914 chr2 113060902 A C IL36RN Pathogenic missense rs121913162 chr2 113129619 A T IL1RN Pathogenic stop-gained rs114814747 chr2 120990472 A A GLI2 0.0051/11 Pathogenic missense rs121913048 chr2 127279270 G A ERCC3 Pathogenic stop-gained rs121913046 chr2 127292726 T G ERCC3 Pathogenic missense rs121913045 chr2 127292785 A G ERCC3 Pathogenic missense rs121918148 chr2 127421397 G C PROC Pathogenic missense rs73959261 chr2 135093688 A G RAB3GAP1 0.0101/21 Benign nc-transcript-variant,synonymous-codon rs76927619 chr2 135120839 C T RAB3GAP1 0.0092/20 Benign missense,nc-transcript-variant rs77972211 chr2 135130062 T G RAB3GAP1 0.0133/29 Benign nc-transcript-variant,synonymous-codon rs114901298 chr2 135132983 T G RAB3GAP1 0.0083/17 Benign missense,nc-transcript-variant rs137853053 chr2 135135743 A A RAB3GAP1 Pathogenic nc-transcript-variant,stop-gained rs10445686 chr2 135135802 T G RAB3GAP1 0.2153/468 Benign missense,nc-transcript-variant rs17261772 chr2 135153852 G C,G RAB3GAP1 0.2736/596 Benign missense,nc-transcript-variant,synonymous-codon rs121908936 chr2 135807131 T T LCT Pathogenic stop-gained rs121908937 chr2 135829593 T G LCT Pathogenic missense rs369152939 chr2 135920591 C A DARS Pathogenic missense rs104893625 chr2 136114901 A A CXCR4 Pathogenic missense,stop-gained rs104893626 chr2 136114915 A C CXCR4 Pathogenic stop-gained rs104893624 chr2 136114928 C A CXCR4 Pathogenic missense,stop-gained,synonymous-codon rs397515449 chr2 144389962 G C ZEB2 Pathogenic missense rs143438888 chr2 144398932 T C ZEB2 Benign missense rs112005830 chr2 144398957 A C ZEB2 0.0009/2 Benign missense rs137852980 chr2 144399542 C A ZEB2 Pathogenic stop-gained rs144952836 chr2 144399707 A A ZEB2 0.0014/2 Benign missense rs116207524 chr2 148483196 T A MBD5 0.0005/1 Benign missense rs118204044 chr2 149570089 G G MMADHC Pathogenic missense rs118204048 chr2 149570117 G A MMADHC Pathogenic stop-gained rs118204046 chr2 149570119 A C MMADHC Pathogenic missense rs13031275 chr2 151489980 G C LOC101929336,NEB 0.0243/53 Benign intron-variant,synonymous-codon rs35808744 chr2 151506954 G T NEB 0.0115/24 Benign synonymous-codon rs41270201 chr2 151508075 A A NEB 0.0092/20 Benign missense rs35625617 chr2 151527007 C T NEB 0.0110/24 Benign missense rs34718443 chr2 151529225 T A NEB Benign synonymous-codon rs149510427 chr2 151531078 T A NEB 0.0289/62 Benign synonymous-codon rs16830170 chr2 151531795 C A NEB 0.0152/32 Benign synonymous-codon rs34555492 chr2 151540718 T A NEB 0.0083/17 Benign synonymous-codon rs2288200 chr2 151547704 C A NEB 0.0730/159 Benign missense rs35707762 chr2 151548387 T A NEB 0.0055/11 Benign missense rs16830216 chr2 151560595 C A NEB 0.0119/26 Benign synonymous-codon rs141338915 chr2 151563606 G G NEB 0.0142/30 Benign synonymous-codon rs2288210 chr2 151565562 T G NEB 0.2957/643 Benign missense rs16830236 chr2 151567211 T C NEB 0.0133/29 Benign missense rs33988153 chr2 151575797 G C NEB 0.1171/255 Benign synonymous-codon rs80320923 chr2 151612222 A G NEB 0.0106/22 Benign intron-variant,synonymous-codon rs149025191 chr2 151617397 A G NEB 0.0087/19 Benign intron-variant,missense rs6717213 chr2 151619616 T T NEB 0.1217/264 Benign intron-variant,synonymous-codon rs113952741 chr2 151640448 T G NEB Benign intron-variant,synonymous-codon rs35974308 chr2 151642629 G T NEB 0.0174/38 Benign intron-variant,missense rs35292878 chr2 151646152 C T NEB 0.0028/5 Benign missense rs140186806 chr2 151658007 T T NEB 0.0064/14 Benign synonymous-codon rs77547727 chr2 151662333 T A NEB 0.0289/62 Benign synonymous-codon rs141930814 chr2 151663744 G T NEB 0.0051/11 Benign missense rs34577613 chr2 151671094 G T NEB 0.3205/698 Benign missense rs34800215 chr2 151671122 T G NEB 0.0248/54 Benign missense rs187343008 chr2 151679785 A C NEB 0.0037/7 Benign missense rs6735208 chr2 151679984 T A NEB 0.3811/830 Benign missense rs4611637 chr2 151717467 G G NEB 0.3926/855 Benign synonymous-codon rs61736804 chr2 151860817 A T CACNB4 0.0418/91 Benign missense,synonymous-codon rs121918407 chr2 156579109 T C GPD2 Pathogenic missense rs387906588 chr2 157766005 T A ACVR1 Pathogenic missense rs121912678 chr2 157774114 G T ACVR1 Pathogenic missense rs387906591 chr2 157774126 T A ACVR1 Pathogenic missense rs16850131 chr2 165146969 C A SCN2A,SCN3A 0.2603/567 Benign intron-variant,synonymous-codon rs387906683 chr2 165297053 G T SCN2A Pathogenic stop-gained rs387906687 chr2 165310379 T G SCN2A Pathogenic missense rs387906686 chr2 165310413 G T SCN2A Pathogenic missense rs141815642 chr2 165323269 G C SCN2A 0.0069/14 Benign synonymous-codon rs2228980 chr2 165344715 A G SCN2A 0.0037/7 Benign missense rs121917754 chr2 165354279 T A SCN2A Pathogenic missense rs387906684 chr2 165367327 A A SCN2A Pathogenic missense rs121917753 chr2 165373331 G A SCN2A Pathogenic missense rs387906685 chr2 165380702 G G SCN2A Pathogenic missense rs2060198 chr2 165388720 C A SCN2A 0.2521/548 Benign synonymous-codon rs267606841 chr2 165749801 T C GALNT3 Pathogenic missense rs137853088 chr2 165759443 T C GALNT3 Pathogenic stop-gained rs137853086 chr2 165770217 G A GALNT3 0.0005/1 Pathogenic stop-gained rs115504901 chr2 165883959 G C,G TTC21B 0.0239/51 Benign synonymous-codon rs73018799 chr2 165901737 C A TTC21B 0.0092/20 Benign synonymous-codon rs80225158 chr2 165911403 A G TTC21B 0.0418/91 Benign synonymous-codon rs387907060 chr2 165911404 G G TTC21B Pathogenic missense rs79656636 chr2 165911454 T A TTC21B 0.0170/37 Benign synonymous-codon rs112868646 chr2 165931814 G C TTC21B 0.0110/24 Benign missense rs1432273 chr2 165941136 A T TTC21B-AS1,TTC21B 0.3269/711 Benign intron-variant,missense rs121918629 chr2 165992149 T A LOC102724058,LOC102724067,SCN1A Pathogenic intron-variant,missense rs397514458 chr2 165992269 C T LOC102724058,LOC102724067,SCN1A Pathogenic intron-variant,missense rs121918632 chr2 165996099 G G LOC102724058,LOC102724067,SCN1A Pathogenic intron-variant,missense rs121918627 chr2 166002473 C G LOC102724058,LOC102724067,SCN1A Pathogenic intron-variant,missense rs2298771 chr2 166036278 T T LOC102724058,SCN1A 0.2144/467 Benign downstream-variant-500B,missense,nc-transcript-variant rs121918625 chr2 166036521 A A LOC102724058,SCN1A Pathogenic downstream-variant-500B,missense rs398123588 chr2 166039436 G T SCN1A Pathogenic missense rs6432860 chr2 166041354 A G SCN1A 0.2144/467 Benign synonymous-codon rs121918624 chr2 166052882 G A SCN1A Pathogenic stop-gained rs121918631 chr2 166056450 T G SCN1A Pathogenic missense rs199550149 chr2 166199716 A G AC010127.3,SCN9A ?/0 Benign nc-transcript-variant,synonymous-codon rs121908914 chr2 166204448 T G AC010127.3,SCN9A Pathogenic intron-variant,missense rs121908913 chr2 166228969 G A AC010127.3,SCN9A Pathogenic intron-variant,missense rs77144869 chr2 166238220 A T AC010127.3,SCN9A 0.0115/24 Benign intron-variant,synonymous-codon rs6746030 chr2 166242648 T G AC010127.3,SCN9A 0.1088/236 Benign intron-variant,missense,synonymous-codon rs74401238 chr2 166251875 G G,T AC010127.3,SCN9A 0.0179/38 Benign missense,nc-transcript-variant rs12478318 chr2 166277030 A G AC010127.3,SCN9A 0.0372/81 Pathogenic intron-variant,missense rs80356477 chr2 166277237 C A,G AC010127.3,SCN9A Pathogenic missense,nc-transcript-variant rs80356475 chr2 166277251 G T AC010127.3,SCN9A Pathogenic intron-variant,missense rs80356476 chr2 166277252 G A AC010127.3,SCN9A Pathogenic intron-variant,missense rs80356474 chr2 166277281 T G AC010127.3,SCN9A Pathogenic intron-variant,missense rs80356473 chr2 166278156 G C AC010127.3,SCN9A Pathogenic intron-variant,missense rs121908908 chr2 166286562 A C AC010127.3,SCN9A Pathogenic intron-variant,stop-gained rs80356470 chr2 166303270 C T SCN9A Pathogenic missense rs80356469 chr2 166304279 A G SCN9A Pathogenic missense rs121908921 chr2 166306531 G T SCN9A Pathogenic missense rs80356468 chr2 166306571 A C SCN9A Pathogenic missense rs121908935 chr2 168976590 T G ABCB11 Pathogenic missense rs16856476 chr2 169140499 T A LRP2 0.0303/65 Benign synonymous-codon rs2075252 chr2 169154475 G C LRP2 0.2580/562 Benign missense rs144081819 chr2 169174129 G T LRP2 0.0060/13 Benign missense rs17848169 chr2 169204093 T C LRP2 0.0188/40 Benign missense rs138269726 chr2 169212088 A T LRP2 0.0009/2 Pathogenic missense rs34834388 chr2 169212203 G A LRP2 0.0174/38 Benign synonymous-codon rs11886219 chr2 169213838 C C LRP2 0.1428/311 Benign synonymous-codon rs116456291 chr2 169226523 C T LRP2 0.0069/14 Benign missense rs2302694 chr2 169231841 G A LRP2 0.1800/392 Benign synonymous-codon rs145384264 chr2 169233424 G T LRP2 0.0078/17 Benign synonymous-codon rs17848149 chr2 169241197 C G LRP2 0.0335/73 Benign missense rs831042 chr2 169242963 G C LRP2 0.4913/1069 Benign synonymous-codon rs150552608 chr2 169243501 G A LRP2 0.0110/24 Benign missense rs80338746 chr2 169247447 T C LRP2 Pathogenic missense rs137852808 chr2 174748184 C C CHRNA1 Pathogenic missense rs137852806 chr2 174750122 C G CHRNA1 Pathogenic missense rs137852800 chr2 174750127 T A CHRNA1 Pathogenic missense rs137852803 chr2 174750143 A A CHRNA1 Pathogenic missense rs137852807 chr2 174754305 G G CHRNA1 Pathogenic missense rs121912798 chr2 174811538 A T CHN1 Pathogenic missense,nc-transcript-variant rs121912797 chr2 174812440 G T CHN1 Pathogenic missense,nc-transcript-variant rs387906600 chr2 174812441 G A CHN1 Pathogenic missense,nc-transcript-variant rs121912795 chr2 174824478 C A CHN1 Pathogenic missense,nc-transcript-variant rs121912794 chr2 174877962 A G CHN1 Pathogenic intron-variant,missense rs387906599 chr2 174877967 G A CHN1 Pathogenic intron-variant,missense rs121912793 chr2 174878011 A C CHN1 Pathogenic intron-variant,missense rs121912792 chr2 174944942 A A CHN1 Pathogenic missense,nc-transcript-variant rs28928892 chr2 176094645 T G HOXD13 Pathogenic missense rs28928891 chr2 176094662 T C HOXD13 Pathogenic missense rs104893635 chr2 176094672 G G HOXD13 Pathogenic missense rs17304212 chr2 178461008 G G,T DFNB59 0.0436/95 Benign missense rs79399438 chr2 178461089 G A DFNB59 0.0542/117 Benign missense rs281864929 chr2 178527098 T A TTN-AS1,TTN Pathogenic intron-variant,stop-gained rs267607156 chr2 178527121 G G TTN-AS1,TTN Pathogenic intron-variant,missense rs16866378 chr2 178528384 C G TTN-AS1,TTN 0.0941/204 Benign intron-variant,missense rs116604145 chr2 178528894 T A TTN-AS1,TTN 0.0005/1 Benign intron-variant,synonymous-codon rs56207956 chr2 178530340 C G TTN-AS1,TTN 0.0519/113 Benign intron-variant,synonymous-codon rs56324595 chr2 178530846 T T TTN-AS1,TTN 0.0110/24 Benign intron-variant,missense rs56308529 chr2 178531435 T G TTN-AS1,TTN 0.0248/54 Benign intron-variant,missense rs72629787 chr2 178532238 G G TTN-AS1,TTN 0.0078/17 Benign intron-variant,missense rs3731752 chr2 178533782 C A TTN-AS1,TTN 0.0803/174 Benign intron-variant,missense rs55886356 chr2 178534849 T G TTN-AS1,TTN 0.0055/11 Benign intron-variant,missense rs114267234 chr2 178534918 T A TTN-AS1,TTN 0.0005/1 Benign intron-variant,synonymous-codon rs72629779 chr2 178536288 A A TTN-AS1,TTN 0.0101/21 Benign intron-variant,missense rs55675869 chr2 178537013 C T TTN-AS1,TTN 0.0312/67 Benign intron-variant,missense rs55742743 chr2 178537015 G T TTN-AS1,TTN 0.0078/17 Benign intron-variant,missense rs77257306 chr2 178538718 T G TTN-AS1,TTN 0.0018/4 Benign intron-variant,nc-transcript-variant,synonymous-codon rs4894028 chr2 178539023 G G,T TTN-AS1,TTN 0.0386/84 Benign intron-variant,missense,nc-transcript-variant rs375361462 chr2 178539214 A T TTN-AS1,TTN Benign intron-variant,nc-transcript-variant,synonymous-codon rs55977045 chr2 178539470 T C TTN-AS1,TTN 0.0060/13 Benign intron-variant,nc-transcript-variant,synonymous-codon rs3731749 chr2 178541464 G T TTN-AS1,TTN 0.1905/415 Benign intron-variant,missense rs372773283 chr2 178544036 A T TTN-AS1,TTN Benign intron-variant,synonymous-codon rs116567963 chr2 178546296 A T TTN-AS1,TTN 0.0046/10 Benign intron-variant,missense rs35445420 chr2 178548239 G A TTN-AS1,TTN 0.0119/26 Benign intron-variant,synonymous-codon rs11694623 chr2 178548725 C A TTN-AS1,TTN 0.0129/27 Benign intron-variant,synonymous-codon rs16866391 chr2 178549435 G C TTN-AS1,TTN 0.0422/92 Benign intron-variant,missense rs747122 chr2 178549591 T T TTN-AS1,TTN 0.1120/243 Benign intron-variant,missense rs144922355 chr2 178549838 C A TTN-AS1,TTN 0.0046/10 Benign intron-variant,missense rs11897366 chr2 178551829 G C TTN-AS1,TTN 0.1134/247 Benign intron-variant,synonymous-codon rs77853750 chr2 178553688 C A TTN-AS1,TTN 0.0083/17 Benign intron-variant,missense rs371612136 chr2 178554974 A A TTN-AS1,TTN Benign intron-variant,synonymous-codon rs9808036 chr2 178556882 T T TTN-AS1,TTN 0.0455/98 Benign intron-variant,synonymous-codon rs9808377 chr2 178556967 T G TTN-AS1,TTN 0.4486/977 Benign intron-variant,missense rs72648229 chr2 178557685 T G TTN-AS1,TTN 0.0170/37 Benign intron-variant,synonymous-codon rs56310931 chr2 178559831 T T TTN-AS1,TTN 0.0037/7 Benign intron-variant,synonymous-codon rs3829746 chr2 178562809 G C TTN-AS1,TTN 0.4490/978 Benign intron-variant,missense rs11896637 chr2 178563334 G T TTN-AS1,TTN 0.0386/84 Benign intron-variant,missense rs55933739 chr2 178563747 T T TTN-AS1,TTN 0.0106/22 Benign intron-variant,missense rs56365600 chr2 178564174 T T TTN-AS1,TTN 0.0165/35 Benign intron-variant,missense rs56214710 chr2 178564277 A A TTN-AS1,TTN 0.0298/65 Benign intron-variant,synonymous-codon rs114908705 chr2 178565075 G G TTN-AS1,TTN 0.0023/4 Benign intron-variant,synonymous-codon rs79926414 chr2 178565497 T T TTN-AS1,TTN 0.0193/41 Benign intron-variant,missense rs55892928 chr2 178565810 G A TTN-AS1,TTN 0.0087/19 Benign intron-variant,synonymous-codon rs56307213 chr2 178566349 A G TTN-AS1,TTN 0.0106/22 Benign intron-variant,missense rs56044609 chr2 178566813 G T TTN-AS1,TTN 0.0051/11 Benign intron-variant,missense rs55861600 chr2 178566814 G A TTN-AS1,TTN 0.0073/16 Benign intron-variant,missense rs12463674 chr2 178567458 T G TTN-AS1,TTN 0.1515/329 Benign intron-variant,missense rs56018860 chr2 178568494 C C TTN-AS1,TTN 0.0303/65 Benign intron-variant,missense rs3813246 chr2 178568853 T C TTN-AS1,TTN 0.0303/65 Benign intron-variant,missense rs744426 chr2 178571293 T A TTN-AS1,TTN 0.1905/415 Benign intron-variant,missense rs10164753 chr2 178574139 G T TTN-AS1,TTN 0.0556/121 Benign intron-variant,missense rs55847238 chr2 178575317 A T TTN-AS1,TTN 0.0018/4 Benign intron-variant,synonymous-codon rs55801134 chr2 178575436 A G TTN-AS1,TTN 0.0087/19 Benign intron-variant,missense rs115658240 chr2 178576392 G A TTN-AS1,TTN 0.0037/7 Benign intron-variant,missense rs67041405 chr2 178576659 G A TTN-AS1,TTN 0.0037/7 Benign intron-variant,synonymous-codon rs72646881 chr2 178577190 T C TTN-AS1,TTN 0.0390/84 Benign intron-variant,missense rs10497517 chr2 178578813 T G TTN-AS1,TTN 0.0955/208 Benign intron-variant,synonymous-codon rs2288570 chr2 178579562 A G TTN-AS1,TTN 0.0317/68 Benign intron-variant,synonymous-codon rs4145333 chr2 178580041 T G TTN-AS1,TTN 0.0051/11 Benign intron-variant,missense rs72646869 chr2 178581654 T T TTN-AS1,TTN 0.0106/22 Benign intron-variant,missense rs62618736 chr2 178583060 C T TTN-AS1,TTN 0.0193/41 Benign intron-variant,missense,nc-transcript-variant rs13021201 chr2 178584404 A A TTN-AS1,TTN 0.0179/38 Benign intron-variant,missense rs72646861 chr2 178584459 T A TTN-AS1,TTN 0.0083/17 Benign intron-variant,missense rs2042996 chr2 178586693 T A TTN-AS1,TTN 0.4477/974 Benign intron-variant,missense rs72646857 chr2 178587179 T A TTN-AS1,TTN 0.0156/34 Benign intron-variant,synonymous-codon rs72646851 chr2 178588699 G T TTN-AS1,TTN 0.0046/10 Benign intron-variant,missense rs72646847 chr2 178589547 G G TTN-AS1,TTN 0.0101/21 Benign intron-variant,synonymous-codon rs1560221 chr2 178589667 T G TTN-AS1,TTN 0.4532/986 Benign intron-variant,synonymous-codon rs2163009 chr2 178590480 G C TTN-AS1,TTN 0.4536/987 Benign intron-variant,synonymous-codon rs201487340 chr2 178591764 T T TTN-AS1,TTN Benign intron-variant,missense,stop-gained rs72646842 chr2 178592069 T A TTN-AS1,TTN 0.0009/2 Benign intron-variant,synonymous-codon rs191066933 chr2 178593339 T C TTN-AS1,TTN 0.0005/1 Benign intron-variant,missense rs72646827 chr2 178599264 G T TTN-AS1,TTN 0.0064/14 Benign intron-variant,synonymous-codon rs151335428 chr2 178600975 T C TTN-AS1,TTN 0.0014/2 Benign intron-variant,synonymous-codon rs2303834 chr2 178604988 T G TTN-AS1,TTN 0.0037/7 Benign intron-variant,nc-transcript-variant,synonymous-codon rs72646809 chr2 178607496 T G TTN-AS1,TTN 0.0083/17 Benign intron-variant,missense rs73036398 chr2 178607870 T G TTN-AS1,TTN 0.0230/49 Benign intron-variant,synonymous-codon rs16866412 chr2 178609941 C A TTN-AS1,TTN 0.0730/159 Benign intron-variant,missense rs190021597 chr2 178612777 T T TTN-AS1,TTN 0.0014/2 Benign intron-variant,synonymous-codon rs72677244 chr2 178614518 T T TTN-AS1,TTN 0.0716/155 Benign nc-transcript-variant,synonymous-codon rs72677242 chr2 178614880 T A TTN-AS1,TTN 0.0032/7 Benign intron-variant,missense rs192953152 chr2 178616934 G C TTN-AS1,TTN 0.0014/2 Benign intron-variant,synonymous-codon rs114145817 chr2 178617951 T T TTN-AS1,TTN 0.0083/17 Benign intron-variant,synonymous-codon rs16866423 chr2 178632298 T G TTN 0.0427/92 Benign synonymous-codon rs56034831 chr2 178632406 C T TTN 0.0115/24 Benign synonymous-codon rs16866425 chr2 178633576 T A,C TTN 0.0698/152 Benign missense,synonymous-codon rs2288563 chr2 178634803 G C TTN 0.0331/72 Benign missense rs72650077 chr2 178636624 C A TTN 0.0028/5 Benign synonymous-codon rs370597107 chr2 178641287 T C LOC102724244,TTN Benign missense,upstream-variant-2KB rs35112591 chr2 178678490 T T TTN 0.2199/479 Benign intron-variant,synonymous-codon rs115744476 chr2 178682728 T C TTN 0.0055/11 Benign intron-variant,synonymous-codon rs116676813 chr2 178684404 T T TTN 0.0096/20 Benign intron-variant,missense rs79232842 chr2 178685543 T T TTN 0.0051/11 Benign intron-variant,synonymous-codon rs2244492 chr2 178689578 C T TTN 0.3705/806 Benign intron-variant,missense rs73038324 chr2 178696120 G T TTN 0.0381/83 Benign intron-variant,missense rs2742344 chr2 178704673 G T TTN 0.0900/195 Benign intron-variant,synonymous-codon rs72650003 chr2 178706696 A T TTN 0.0165/35 Benign intron-variant,synonymous-codon rs72648998 chr2 178710784 G T TTN 0.0271/59 Benign intron-variant,missense rs61232800 chr2 178713143 G C TTN 0.0225/48 Benign intron-variant,synonymous-codon rs2562839 chr2 178714003 G A TTN 0.3949/860 Benign intron-variant,synonymous-codon rs2562838 chr2 178714485 T C TTN 0.4293/935 Benign intron-variant,synonymous-codon rs16866457 chr2 178714529 G T TTN 0.0133/29 Benign intron-variant,missense rs2562836 chr2 178715095 A A TTN 0.3949/860 Benign intron-variant,synonymous-codon rs2562832 chr2 178717108 T A TTN 0.0689/149 Benign intron-variant,missense rs72648986 chr2 178717336 T T TTN 0.0174/38 Benign intron-variant,missense rs13390491 chr2 178717600 T T TTN 0.2346/511 Benign intron-variant,missense rs2627043 chr2 178717810 C T TTN 0.3935/856 Benign intron-variant,missense rs116378128 chr2 178717998 C A TTN 0.0046/10 Benign intron-variant,synonymous-codon rs72648983 chr2 178718097 T T TTN 0.0211/46 Benign intron-variant,synonymous-codon rs113391261 chr2 178718729 C A TTN 0.0046/10 Benign intron-variant,synonymous-codon rs16866465 chr2 178718769 C G TTN 0.2291/498 Benign intron-variant,missense rs2562831 chr2 178720539 T T TTN 0.0133/29 Benign intron-variant,synonymous-codon rs16866467 chr2 178721018 G T TTN 0.0138/29 Benign intron-variant,synonymous-codon rs72648970 chr2 178721877 T G TTN 0.0197/43 Benign intron-variant,missense rs16866473 chr2 178722819 T G TTN 0.0514/111 Benign intron-variant,synonymous-codon rs34562585 chr2 178722825 T C TTN 0.0055/11 Benign intron-variant,synonymous-codon rs72648962 chr2 178724269 A T TTN 0.0110/24 Benign intron-variant,missense rs72648960 chr2 178724331 C A TTN 0.0404/87 Benign intron-variant,missense rs114626713 chr2 178724356 C A TTN 0.0041/8 Benign intron-variant,missense rs28626194 chr2 178727218 T T TTN 0.0051/11 Benign intron-variant,missense rs16866475 chr2 178727602 T A TTN 0.0138/29 Benign intron-variant,missense rs72648954 chr2 178728722 G C TTN 0.0110/24 Benign intron-variant,missense rs72648946 chr2 178730544 C T TTN 0.0041/8 Benign intron-variant,missense rs72648935 chr2 178733081 T A TTN 0.0101/21 Benign intron-variant,synonymous-codon rs72648923 chr2 178735748 G T TTN 0.0037/7 Benign intron-variant,missense rs2742348 chr2 178735836 G A TTN 0.0133/29 Benign intron-variant,synonymous-codon rs147879266 chr2 178738114 T T TTN 0.0005/1 Pathogenic missense rs1883085 chr2 178739433 A G TTN 0.0905/197 Benign intron-variant,missense rs2562829 chr2 178739639 T G TTN 0.0905/197 Benign intron-variant,missense rs267607158 chr2 178740125 C A TTN Pathogenic intron-variant,stop-gained rs33971253 chr2 178741264 G A TTN 0.0055/11 Benign intron-variant,missense rs72648911 chr2 178746953 T A TTN 0.0344/75 Benign intron-variant,synonymous-codon rs72648908 chr2 178747646 G C TTN Benign intron-variant,synonymous-codon rs147884688 chr2 178748767 G T TTN 0.0028/5 Benign intron-variant,missense rs10803917 chr2 178750225 C G TTN 0.0197/43 Benign intron-variant,synonymous-codon rs922985 chr2 178751204 A G TTN 0.0197/43 Benign intron-variant,missense rs72955213 chr2 178756776 T T TTN 0.0110/24 Benign intron-variant,missense rs2291310 chr2 178759031 T T TTN 0.1575/343 Benign missense rs2291312 chr2 178766487 T C TTN 0.1396/304 Benign synonymous-codon rs72647886 chr2 178768686 G C TTN Benign synonymous-codon rs11900987 chr2 178768759 T A TTN 0.0018/4 Benign missense rs4894045 chr2 178768917 G C TTN 0.0487/105 Benign synonymous-codon rs2306636 chr2 178770209 T T TTN 0.0918/200 Benign missense rs2291306 chr2 178773511 T A TTN 0.0657/143 Benign synonymous-codon rs12476289 chr2 178777248 G T LOC101927055,TTN 0.0900/195 Benign missense,nc-transcript-variant rs16866531 chr2 178778905 G C LOC101927055,TTN 0.0317/68 Benign intron-variant,missense rs55757622 chr2 178779089 A A LOC101927055,TTN 0.0124/27 Benign intron-variant,synonymous-codon rs10497520 chr2 178780128 A C LOC101927055,TTN 0.4504/980 Benign downstream-variant-500B,missense rs56310516 chr2 178782957 A A TTN 0.0138/29 Benign synonymous-codon rs28933405 chr2 178785999 G A TTN Pathogenic missense rs16866538 chr2 178795185 C A TTN 0.2319/504 Benign missense rs72647845 chr2 178795197 A A TTN Benign missense rs72647843 chr2 178800436 T A,G TTN 0.0133/29 Benign missense rs121909398 chr2 181558617 G A,C CERKL 0.0005/1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs397509373 chr2 189004365 T A COL3A1 Pathogenic splice-donor-variant rs121912918 chr2 189008135 A A COL3A1 Pathogenic missense rs121912930 chr2 189043177 A G COL5A2 Pathogenic missense rs104893671 chr2 189564018 C A SLC40A1 Pathogenic missense rs104893664 chr2 189564186 C T SLC40A1 Pathogenic missense rs104893670 chr2 189565568 T A SLC40A1 Pathogenic missense,synonymous-codon rs104893672 chr2 189565572 C A SLC40A1 Pathogenic missense rs1805086 chr2 190060351 T C MSTN,C2orf88 0.0611/133 Pathogenic intron-variant,missense rs137852677 chr2 190975830 A G STAT1 Pathogenic missense rs387906765 chr2 190995143 G C STAT1 Pathogenic missense rs387906761 chr2 190995148 T A STAT1 Pathogenic missense rs387906759 chr2 190995205 C A STAT1 Pathogenic missense rs387906764 chr2 190999673 C C STAT1 Pathogenic missense rs387906767 chr2 190999674 T G STAT1 Pathogenic missense rs66468541 chr2 197497275 A T HSPD1 Pathogenic missense rs80358239 chr2 201209363 T C,T CASP10 0.0009/2 Pathogenic missense,utr-variant-3-prime rs13010627 chr2 201209375 T A CASP10 0.0285/62 Pathogenic missense,utr-variant-3-prime rs387907131 chr2 201640264 A A TMEM237 Pathogenic stop-gained rs121908137 chr2 201726854 T A ALS2 Pathogenic stop-gained rs121908139 chr2 201744285 A A ALS2 Pathogenic stop-gained rs137852755 chr2 202464852 C G BMPR2 Pathogenic stop-gained rs137852743 chr2 202467625 A G BMPR2 Pathogenic missense rs137852747 chr2 202513807 T A BMPR2 Pathogenic stop-gained rs137852754 chr2 202514903 T A BMPR2 Pathogenic missense rs137852751 chr2 202530820 G T BMPR2 Pathogenic stop-gained rs137852748 chr2 202556282 G T BMPR2 Pathogenic stop-gained rs137852741 chr2 202556360 G T BMPR2 Pathogenic stop-gained rs137852752 chr2 202556361 A A,C BMPR2 0.0009/2 Pathogenic missense rs372691318 chr2 206130127 T A NDUFS1 Pathogenic stop-gained rs1801318 chr2 206141952 C A,C NDUFS1 0.3269/711 Benign missense,synonymous-codon rs199422224 chr2 206145009 C C NDUFS1 Pathogenic missense rs118203917 chr2 206774264 G T FASTKD2 Pathogenic stop-gained rs104893618 chr2 208129680 G G LOC100507443,CRYGC Pathogenic intron-variant,missense rs121918337 chr2 208325773 A T PIKFYVE Pathogenic stop-gained rs121918336 chr2 208326119 G G PIKFYVE Pathogenic missense rs121912593 chr2 210573301 A T CPS1 Pathogenic stop-gained rs28940283 chr2 210591893 T G CPS1 Pathogenic missense,upstream-variant-2KB rs121912596 chr2 210608527 G T CPS1 Pathogenic stop-gained rs121912595 chr2 210640045 T A,T CPS1 Pathogenic missense rs397514262 chr2 211424241 G T ERBB4 Pathogenic missense rs28940568 chr2 214978830 G T ABCA12 Pathogenic missense,nc-transcript-variant rs28940270 chr2 214982225 G T ABCA12 Pathogenic missense,nc-transcript-variant rs267606622 chr2 214990791 G T ABCA12 Pathogenic missense,nc-transcript-variant rs121434478 chr2 215344828 G G ATIC Pathogenic missense rs137854487 chr2 215375685 G C FN1 Pathogenic missense rs137854486 chr2 215376612 G T FN1 Pathogenic missense rs121434513 chr2 218271410 C C AAMP,PNKD Pathogenic missense,upstream-variant-2KB rs121908580 chr2 218661135 C G BCS1L,ZNF142 Pathogenic intron-variant,missense,nc-transcript-variant,upstream-variant-2KB rs397515353 chr2 218812923 G A CYP27A1 Pathogenic splice-acceptor-variant rs121908096 chr2 218814186 G A,T CYP27A1 Pathogenic missense rs118204453 chr2 219146736 A A NHEJ1 Pathogenic stop-gained rs57639980 chr2 219421350 G C DES Pathogenic missense rs121913005 chr2 219425699 C T LOC101928568,DES Pathogenic intron-variant,missense rs397518462 chr2 219504138 C A GMPPA Pathogenic missense,nc-transcript-variant rs121912824 chr2 227307898 G T COL4A3,AC097662.2 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs121912825 chr2 227309007 A G COL4A3,AC097662.2 Pathogenic intron-variant,stop-gained rs121917884 chr2 227688216 C C SLC19A3 Pathogenic missense,utr-variant-3-prime rs121909505 chr2 232527436 A A CHRND Pathogenic intron-variant,nc-transcript-variant,stop-gained rs121909509 chr2 232527438 A A CHRND Pathogenic intron-variant,missense,nc-transcript-variant rs121909504 chr2 232527440 A A CHRND Pathogenic intron-variant,missense,nc-transcript-variant rs121909506 chr2 232528301 T C CHRND Pathogenic missense,nc-transcript-variant rs112921420 chr2 232528555 G T CHRND ?/0 Benign nc-transcript-variant,synonymous-codon rs143607153 chr2 232768552 G G,T LOC101928854,GIGYF2,KCNJ13 Pathogenic intron-variant,missense,utr-variant-3-prime rs397514681 chr2 233335029 G T SAG Pathogenic stop-gained rs72551353 chr2 233768259 C T UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3 Pathogenic missense rs28934877 chr2 233768333 A C,G UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3 Pathogenic missense rs4433949 chr2 237340987 G T COL6A3 0.3806/828 Benign synonymous-codon rs2646258 chr2 237344506 T A COL6A3 0.1024/223 Benign synonymous-codon rs34181055 chr2 237344509 C T COL6A3 0.0188/40 Benign synonymous-codon rs2646265 chr2 237348370 A A COL6A3 0.1010/219 Benign synonymous-codon rs2646254 chr2 237359074 A T COL6A3 0.2952/643 Benign synonymous-codon rs34340053 chr2 237367087 C T COL6A3 0.0179/38 Benign synonymous-codon rs2646260 chr2 237369152 A G COL6A3 0.3499/761 Benign intron-variant,synonymous-codon rs11896521 chr2 237374829 G G COL6A3 0.0528/114 Benign missense rs36092870 chr2 237379157 G T COL6A3 0.0188/40 Benign intron-variant,missense rs121434554 chr2 237381419 G A COL6A3 Pathogenic stop-gained rs112896869 chr2 237381423 G A COL6A3 0.0138/29 Benign synonymous-codon rs114750216 chr2 237387712 G A COL6A3 0.0028/5 Benign intron-variant,synonymous-codon rs79606264 chr2 237388126 A A COL6A3 0.0073/16 Benign intron-variant,synonymous-codon rs398124119 chr2 237395121 A A COL6A3 Pathogenic intron-variant,stop-gained rs119473031 chr2 237493529 G T MLPH Pathogenic missense,nc-transcript-variant rs2083411 chr2 240022311 T C NDUFA10 0.2787/606 Benign synonymous-codon rs4426527 chr2 240878099 G G AGXT 0.1368/298 Pathogenic missense rs2076405 chr20 2394616 T G TGM6 0.1354/294 Benign missense rs1127354 chr20 3213196 C A,G,T ITPA 0.0808/176 Pathogenic intron-variant,missense,nc-transcript-variant rs267607064 chr20 3228952 C T SLC4A11 Pathogenic missense,nc-transcript-variant rs267607065 chr20 3230954 G T SLC4A11 Pathogenic missense,nc-transcript-variant rs137852962 chr20 3908153 G T PANK2 Pathogenic missense,utr-variant-5-prime rs28939088 chr20 3912532 G C PANK2 Pathogenic missense rs137852959 chr20 3918695 G A MIR103B2,PANK2 Pathogenic missense,upstream-variant-2KB rs137852967 chr20 3918717 G T MIR103B2,PANK2 Pathogenic missense,upstream-variant-2KB rs74315401 chr20 4699525 G T PRNP Pathogenic missense,synonymous-codon rs80356710 chr20 4699655 G G PRNP Pathogenic stop-gained,utr-variant-3-prime rs74315403 chr20 4699752 A A PRNP Pathogenic missense,utr-variant-3-prime rs74315408 chr20 4699758 T A PRNP 0.0005/1 Pathogenic missense,utr-variant-3-prime rs74315411 chr20 4699767 C G PRNP Pathogenic missense,utr-variant-3-prime rs74315412 chr20 4699843 C A PRNP Pathogenic missense,utr-variant-3-prime rs74315406 chr20 4699870 G G PRNP Pathogenic missense,utr-variant-3-prime rs121918294 chr20 6097619 G A FERMT1 Pathogenic stop-gained rs6056003 chr20 8684993 C G PLCB1 0.0138/29 Benign synonymous-codon rs3761170 chr20 8737066 A A PLCB1 0.0758/165 Benign synonymous-codon rs61755434 chr20 8737175 C G PLCB1 0.0087/19 Benign missense rs2294597 chr20 8790175 T T PLCB1 0.2089/454 Benign synonymous-codon rs387907179 chr20 9384333 C G PLCB4 Pathogenic missense rs397514769 chr20 9387471 A T PLCB4 Pathogenic missense rs397514770 chr20 9387476 A A PLCB4 Pathogenic missense rs397514771 chr20 9387477 C T PLCB4 Pathogenic missense rs1547 chr20 10405411 T A MKKS 0.1731/377 Benign missense,nc-transcript-variant rs281797259 chr20 10405464 A G MKKS Pathogenic missense,nc-transcript-variant rs17852625 chr20 10412981 A A MKKS 0.1703/371 Benign intron-variant,missense,synonymous-codon rs137853154 chr20 10413073 A A MKKS Pathogenic intron-variant,stop-gained rs281797258 chr20 10413265 A A MKKS Pathogenic intron-variant,missense rs74315399 chr20 10413346 T C MKKS Pathogenic intron-variant,missense rs28937875 chr20 10413360 C T MKKS Pathogenic intron-variant,missense rs56225585 chr20 10643854 C A JAG1 0.0758/165 Benign synonymous-codon rs1801140 chr20 10645156 G G JAG1 0.0914/198 Benign synonymous-codon rs121918353 chr20 10656452 A T JAG1 Pathogenic missense rs1801138 chr20 10658574 C A JAG1 0.1644/358 Benign synonymous-codon rs121918351 chr20 10658611 G T JAG1 Pathogenic missense rs121918350 chr20 10658612 G A JAG1 Pathogenic missense rs6040067 chr20 10663966 G T JAG1 0.0138/29 Benign missense rs267606689 chr20 13794939 A C NDUFAF5 Pathogenic intron-variant,missense,nc-transcript-variant rs398124226 chr20 18525021 T A SEC23B Pathogenic splice-donor-variant rs17807673 chr20 18532728 G T SEC23B 0.0611/133 Benign missense rs202210819 chr20 21136463 G T KIZ Pathogenic intron-variant,stop-gained rs10966 chr20 25302308 T G ABHD12 0.4431/964 Benign intron-variant,synonymous-codon rs6107027 chr20 25307996 C A ABHD12 0.3274/713 Benign synonymous-codon rs387907078 chr20 32434909 A T ASXL1 Pathogenic stop-gained rs200702600 chr20 32435795 G A,T ASXL1 Pathogenic stop-gained rs121908943 chr20 32800200 C A DNMT3B Pathogenic missense rs121908941 chr20 32802416 T G DNMT3B Pathogenic missense rs121908939 chr20 32807791 C G DNMT3B Pathogenic missense rs118203965 chr20 33850969 T T CHMP4B Pathogenic missense rs121909308 chr20 34935611 G A GSS Pathogenic missense rs28938472 chr20 34936976 C C GSS Pathogenic missense rs74315389 chr20 35433944 A T GDF5 Pathogenic missense,stop-gained rs121909348 chr20 35433954 T C GDF5 Pathogenic stop-gained rs121909347 chr20 35433991 T T GDF5 Pathogenic missense rs74315386 chr20 35434514 G A GDF5 Pathogenic missense,synonymous-codon rs121434519 chr20 36897926 C A SAMHD1 Pathogenic stop-gained rs121434521 chr20 36919456 G C SAMHD1 Pathogenic missense rs121434516 chr20 36930760 G T SAMHD1 Pathogenic missense rs138603088 chr20 36930783 T T SAMHD1 Pathogenic missense rs267607027 chr20 36935048 A A SAMHD1 Pathogenic stop-gained rs121434518 chr20 36935093 T A SAMHD1 Pathogenic stop-gained rs121434517 chr20 36935105 A A SAMHD1 Pathogenic stop-gained rs387906948 chr20 36935111 T A SAMHD1 Pathogenic missense rs121434520 chr20 36935170 G G SAMHD1 Pathogenic missense rs121434562 chr20 41101297 A A RP1-1J6.2,TOP1 Pathogenic intron-variant,missense rs267607131 chr20 41114115 C G RP1-1J6.2,TOP1 Pathogenic intron-variant,missense rs61737145 chr20 44428408 G T HNF4A 0.0005/1 Benign synonymous-codon rs137853337 chr20 44428409 T A HNF4A Pathogenic missense rs121908715 chr20 44620391 C A ADA Pathogenic missense,nc-transcript-variant rs199422327 chr20 44621082 G C ADA Pathogenic missense,nc-transcript-variant rs121908718 chr20 44621103 G T ADA Pathogenic missense,nc-transcript-variant rs121908721 chr20 44621121 A A,C ADA Pathogenic missense,nc-transcript-variant rs137854544 chr20 45894040 A A CTSA Pathogenic missense rs137854549 chr20 45898107 A G CTSA Pathogenic missense rs2295580 chr20 49010310 T A,C,G ARFGEF2 0.3416/744 Benign synonymous-codon rs74315426 chr20 51791960 G A SALL4 Pathogenic stop-gained rs6068812 chr20 54158096 A G CYP24A1 Pathogenic missense rs114368325 chr20 54158136 A A CYP24A1 0.0005/1 Pathogenic missense rs281875284 chr20 58418289 T T VAPB Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs397514456 chr20 58910818 A A,T GNAS Pathogenic missense,nc-transcript-variant,stop-gained,utr-variant-3-prime rs387906929 chr20 59030427 A C SLMO2-ATP5E,ATP5E Pathogenic missense,nc-transcript-variant rs267606778 chr20 59301692 C G EDN3 Pathogenic missense rs118192235 chr20 63413471 G T KCNQ2 Pathogenic missense rs118192193 chr20 63446778 C C KCNQ2 Pathogenic missense rs398123019 chr20 63672607 A A RTEL1-TNFRSF6B,RTEL1 Pathogenic missense,nc-transcript-variant rs398123016 chr20 63690161 C T RTEL1-TNFRSF6B,RTEL1 Pathogenic missense,nc-transcript-variant rs121908059 chr21 18281139 A A TMPRSS15 Pathogenic stop-gained rs77200626 chr21 18312975 A C TMPRSS15 0.0009/2 Pathogenic stop-gained rs63749964 chr21 25891783 C C APP Pathogenic missense rs63750264 chr21 25891784 G A,G,T APP Pathogenic missense rs63750399 chr21 25891787 C C APP Pathogenic missense rs63750734 chr21 25891790 T T APP Pathogenic missense rs63750973 chr21 25891792 T A APP Pathogenic missense rs63750643 chr21 25891793 C C APP Pathogenic missense rs63749810 chr21 25891853 T T APP Pathogenic missense rs63751039 chr21 25891855 C C APP Pathogenic missense rs63750579 chr21 25891856 T G,T APP Pathogenic missense rs63750671 chr21 25891858 C C APP Pathogenic missense rs193922916 chr21 25897619 C A APP Pathogenic missense rs63750363 chr21 25897642 T G APP Pathogenic missense rs121912450 chr21 31659833 A A LOC102724449,SOD1 Pathogenic missense,upstream-variant-2KB rs121912431 chr21 31663829 G A SOD1 Pathogenic missense rs121912432 chr21 31663832 T G SOD1 Pathogenic missense rs121912435 chr21 31663848 T G SOD1 Pathogenic missense rs121912457 chr21 31663854 C G SOD1 Pathogenic missense rs121912443 chr21 31663857 T G SOD1 Pathogenic missense rs121912458 chr21 31667260 T G SOD1 Pathogenic missense rs121912452 chr21 31667271 T G SOD1 Pathogenic missense rs121912436 chr21 31667274 G C SOD1 Pathogenic missense rs80265967 chr21 31667290 C C SOD1 0.0009/2 Pathogenic missense rs121912459 chr21 31667307 A A SOD1 Pathogenic missense rs121912439 chr21 31667320 A G SOD1 Pathogenic missense rs121912445 chr21 31667331 T T SOD1 Pathogenic missense rs121912440 chr21 31667337 T G SOD1 Pathogenic missense rs121912454 chr21 31668493 G A SOD1 Pathogenic stop-gained rs121912451 chr21 31668517 T A SOD1 Pathogenic missense rs121912446 chr21 31668547 G C SOD1 Pathogenic missense rs121912447 chr21 31668549 C A SOD1 Pathogenic missense rs121912449 chr21 31668568 C C SOD1 Pathogenic missense rs143740376 chr21 32609853 T A C21orf59 0.0005/1 Pathogenic missense,nc-transcript-variant,synonymous-codon rs2234916 chr21 34370500 C G KCNE2 0.0018/4 Benign missense rs199473648 chr21 34370507 G T KCNE2 Pathogenic missense rs74315449 chr21 34370557 G T KCNE2 Pathogenic missense rs148968498 chr21 34370558 C A KCNE2 Pathogenic missense rs74315447 chr21 34370639 G C KCNE2 Pathogenic missense rs74315448 chr21 34370648 T C KCNE2 0.0051/11 Pathogenic missense rs16991654 chr21 34370656 T C KCNE2 Pathogenic missense rs199473364 chr21 34370671 T A,C KCNE2 Pathogenic missense rs141423405 chr21 34370707 G T KCNE2 Pathogenic missense rs199473365 chr21 34370708 G A KCNE2 Pathogenic missense rs199473366 chr21 34370747 G G KCNE2 Pathogenic missense rs121912499 chr21 34799407 T T RUNX1 Pathogenic stop-gained rs267607026 chr21 34880598 C T LOC101928240,RUNX1 Pathogenic missense,upstream-variant-2KB rs74315451 chr21 34880665 C G LOC101928240,RUNX1 Pathogenic missense,upstream-variant-2KB rs119103228 chr21 36759811 G T HLCS Pathogenic missense rs119103227 chr21 36936735 G G HLCS Pathogenic missense rs28934602 chr21 36936798 G C HLCS Pathogenic missense rs387906922 chr21 41756757 T T RIPK4 Pathogenic missense rs2839501 chr21 42385528 A T TMPRSS3 0.4408/959 Benign nc-transcript-variant,synonymous-codon rs151107532 chr21 42486463 G G RSPH1 Pathogenic splice-acceptor-variant rs121964970 chr21 43065645 G T CBS Pathogenic missense rs74315442 chr21 43774297 C A CSTB Pathogenic missense,stop-gained,synonymous-codon rs119479061 chr21 46346146 A T PCNT Pathogenic stop-gained rs16979162 chr21 46411704 G T PCNT 0.1566/341 Benign synonymous-codon rs61735811 chr21 46411707 G T PCNT 0.0404/87 Benign synonymous-codon rs74315506 chr22 18078378 G C PEX26 Pathogenic missense rs119471025 chr22 26468556 C A HPS4 Pathogenic nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs137853011 chr22 28695219 A A CHEK2 Pathogenic missense,nc-transcript-variant rs121434261 chr22 29636821 T C NF2 Pathogenic intron-variant,missense rs74315495 chr22 29655621 A T NF2 Pathogenic intron-variant,stop-gained rs74315496 chr22 29661313 G T NF2 Pathogenic intron-variant,stop-gained rs74315497 chr22 29668405 A T NF2 Pathogenic intron-variant,stop-gained rs74315494 chr22 29681477 G C NF2 Pathogenic intron-variant,missense rs121912668 chr22 32043363 A A SLC5A1 Pathogenic missense rs121912669 chr22 32043364 T G SLC5A1 Pathogenic missense rs137853302 chr22 32859225 A T TIMP3,SYN3 Pathogenic intron-variant,stop-gained rs267607210 chr22 33384205 A A LARGE Pathogenic missense rs875725 chr22 36295645 T C MYH9 0.0234/51 Benign synonymous-codon rs118204028 chr22 37723445 A T TRIOBP Pathogenic stop-gained rs121908681 chr22 38120867 T G PLA2G6 Pathogenic missense,nc-transcript-variant rs387906864 chr22 38126444 T A PLA2G6 Pathogenic nc-transcript-variant,stop-gained rs119450941 chr22 40364965 T A ADSL Pathogenic intron-variant,missense rs119450940 chr22 40365000 C C ADSL Pathogenic intron-variant,missense rs267607179 chr22 40924482 G T XPNPEP3 Pathogenic missense rs20552 chr22 41155035 T A EP300 0.3347/729 Benign synonymous-codon rs11704815 chr22 41157261 G G,T EP300 0.0005/1 Benign synonymous-codon rs1800457 chr22 42628265 T C CYB5R3 0.0721/157 Benign missense rs74315454 chr22 42693169 C T A4GALT Pathogenic missense,stop-gained rs118203990 chr22 46337925 A C TRMU Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs121907933 chr22 49910602 T T ALG12 Pathogenic missense rs121908341 chr22 50068488 A A MLC1 Pathogenic missense,nc-transcript-variant rs41302601 chr22 50074276 T T MLC1 0.0041/8 Benign missense,nc-transcript-variant,synonymous-codon rs121908343 chr22 50079918 T T MLC1 Pathogenic missense,nc-transcript-variant rs121908344 chr22 50079919 T C MLC1 Pathogenic missense,nc-transcript-variant rs149977726 chr22 50527265 T C TYMP,SCO2 Pathogenic missense,upstream-variant-2KB rs121913041 chr22 50527629 T G TYMP,SCO2 Pathogenic missense,upstream-variant-2KB rs743616 chr22 50625611 T C ARSA 0.4261/928 Pathogenic missense rs74315472 chr22 50626618 T A ARSA Pathogenic missense rs74315468 chr22 50626841 C A ARSA Pathogenic missense rs17027638 chr3 3156234 T G CRBN 0.2300/501 Benign synonymous-codon rs137852844 chr3 4362193 A T SUMF1 Pathogenic intron-variant,stop-gained rs137852852 chr3 4362236 A A SUMF1 Pathogenic intron-variant,missense rs137852848 chr3 4376338 C G SUMF1 Pathogenic intron-variant,missense rs137852845 chr3 4376365 G A SUMF1 Pathogenic intron-variant,stop-gained rs137852849 chr3 4417132 C A SUMF1 ?/0 Pathogenic missense rs137852850 chr3 4449322 G G SUMF1 Pathogenic intron-variant,missense rs397514536 chr3 4667467 A G ITPR1 Pathogenic missense rs2306877 chr3 4675127 C C ITPR1 0.2994/651 Benign synonymous-codon rs901854 chr3 4814550 C A ITPR1 0.3903/849 Benign synonymous-codon rs1008642 chr3 8733975 G G,T SSUH2,CAV3 0.3682/802 Pathogenic intron-variant,missense,synonymous-codon rs121917787 chr3 10043065 G T FANCD2 Pathogenic missense rs121917788 chr3 10043119 A T FANCD2 Pathogenic stop-gained rs104893830 chr3 10146561 T C VHL Pathogenic intron-variant,missense rs119103278 chr3 10146578 T C VHL Pathogenic intron-variant,missense rs397516441 chr3 10149790 T G VHL Pathogenic missense rs5030818 chr3 10149804 G G,T VHL Pathogenic stop-gained rs28940301 chr3 10149894 A G VHL Pathogenic missense rs28940300 chr3 10149897 C T VHL Pathogenic missense rs1801282 chr3 12351626 C G PPARG 0.0661/143 Benign intron-variant,missense rs1800571 chr3 12381349 A A PPARG Pathogenic missense rs33955793 chr3 12503330 C A TSEN2 0.0670/146 Benign missense,nc-transcript-variant rs80338797 chr3 12584624 A C RAF1 Pathogenic missense rs80338799 chr3 12585745 T A,C RAF1 Pathogenic intron-variant,missense rs121434594 chr3 12604189 T A,C,T RAF1 Pathogenic missense rs35100587 chr3 14139206 A T TMEM43 0.0202/43 Benign synonymous-codon rs74737358 chr3 14158882 G A,C,T XPC 0.0037/7 Pathogenic missense,nc-transcript-variant rs104893733 chr3 15470613 A A COLQ Pathogenic missense,stop-gained rs397514337 chr3 15635538 G A BTD Pathogenic missense rs397514338 chr3 15635539 A T BTD Pathogenic stop-gained rs397507170 chr3 15635563 T A,T BTD Pathogenic missense rs151071780 chr3 15635641 A G,T BTD 0.0009/2 Pathogenic stop-gained rs397514348 chr3 15635657 T G BTD Pathogenic missense rs397514349 chr3 15635662 A T BTD Pathogenic stop-gained rs397507172 chr3 15641924 G G BTD Pathogenic missense rs397514352 chr3 15641932 A A,C BTD Pathogenic missense rs375712490 chr3 15641939 C T BTD Pathogenic missense rs397514353 chr3 15641954 C G BTD Pathogenic missense rs374681173 chr3 15642052 C C,G BTD Pathogenic missense rs397514360 chr3 15642057 G A BTD Pathogenic synonymous-codon rs13073139 chr3 15644367 C A BTD Pathogenic missense rs397514366 chr3 15644371 T G BTD Pathogenic missense rs397514367 chr3 15644384 G T BTD Pathogenic missense rs397514370 chr3 15644439 A G BTD Pathogenic missense rs397514371 chr3 15644440 C G BTD Pathogenic missense rs397514372 chr3 15644443 A G BTD Pathogenic missense rs397514375 chr3 15644451 T A BTD Pathogenic missense rs397514376 chr3 15644461 T T BTD Pathogenic missense rs397507174 chr3 15644485 C G BTD Pathogenic missense rs372844636 chr3 15644487 G T BTD Pathogenic missense rs112195009 chr3 15644488 T A BTD Pathogenic missense rs397514377 chr3 15644497 C G BTD Pathogenic missense rs190386869 chr3 15644499 T G,T BTD 0.0005/1 Pathogenic missense rs145388314 chr3 15644501 T T BTD 0.0014/2 Benign synonymous-codon rs397514378 chr3 15644508 A C BTD Pathogenic missense rs397514379 chr3 15644510 G C BTD Pathogenic missense rs200337373 chr3 15644520 A A,C BTD Pathogenic missense rs397514380 chr3 15644538 A T BTD Pathogenic missense rs397514382 chr3 15644599 A C BTD Pathogenic missense rs28934601 chr3 15644611 C G BTD Pathogenic missense rs397514383 chr3 15644613 C T BTD Pathogenic missense rs397514438 chr3 15644614 T T BTD Pathogenic missense rs397514385 chr3 15644650 T T BTD Pathogenic missense rs397514391 chr3 15644743 T G BTD Pathogenic missense rs397514433 chr3 15644857 T A BTD Pathogenic missense rs200327983 chr3 15644902 T C BTD Pathogenic missense rs35034250 chr3 15645027 C T BTD 0.0087/19 Pathogenic missense rs201023772 chr3 15645061 T G BTD Pathogenic missense rs104893686 chr3 15645063 T G BTD Pathogenic missense rs397514405 chr3 15645067 C T BTD Pathogenic missense rs397514412 chr3 15645123 G C BTD Pathogenic missense rs397514413 chr3 15645124 C C BTD Pathogenic missense rs397514335 chr3 15645127 T A,C BTD Pathogenic missense rs397514414 chr3 15645131 T G BTD Pathogenic stop-gained rs35145938 chr3 15645140 G A,T BTD 0.0119/26 Pathogenic stop-gained,synonymous-codon rs397514418 chr3 15645195 A T BTD Pathogenic missense rs397514419 chr3 15645208 C A BTD Pathogenic missense rs397514345 chr3 15645217 C C BTD Pathogenic missense rs80338685 chr3 15645224 G C BTD 0.0005/1 Pathogenic missense rs146600671 chr3 15645225 T A BTD Pathogenic missense rs138818907 chr3 15645345 C T BTD Pathogenic missense rs121918702 chr3 24122894 A C THRB Pathogenic missense rs121918704 chr3 24122897 C G THRB Pathogenic missense rs397518481 chr3 25501230 G T RARB Pathogenic nc-transcript-variant,stop-gained rs2228047 chr3 30674116 A G TGFBR2 0.0280/60 Benign synonymous-codon rs104893817 chr3 30674123 T G TGFBR2 Pathogenic missense rs104893818 chr3 30674130 A T TGFBR2 Pathogenic missense rs104893811 chr3 30674228 G T TGFBR2 Pathogenic missense rs104893816 chr3 30674229 C A TGFBR2 Pathogenic missense rs72552292 chr3 32138608 A A GPD1L 0.0005/1 Pathogenic intron-variant,missense rs72555368 chr3 33014292 C C GLB1 Pathogenic missense rs72555391 chr3 33016743 G T GLB1 Pathogenic missense rs28934886 chr3 33016818 G T GLB1 Pathogenic missense rs72555359 chr3 33016819 C A GLB1 Pathogenic stop-gained rs72555369 chr3 33021576 G G GLB1 Pathogenic missense rs72555362 chr3 33051979 A A GLB1 Pathogenic missense rs398123353 chr3 33068291 T T GLB1 Pathogenic intron-variant,splice-acceptor-variant rs72555390 chr3 33072637 T G GLB1 Pathogenic missense rs387907334 chr3 33120433 T G CRTAP Pathogenic stop-gained rs63750792 chr3 36993630 A T MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs63750216 chr3 36993633 T G MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs63749906 chr3 36993651 G G MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs63751012 chr3 36993656 A A,T MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs63750580 chr3 36993659 A C,G MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs267607706 chr3 36993661 T G MLH1,EPM2AIP1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs63750098 chr3 36996648 G A MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs63751428 chr3 36996686 A A,T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,stop-gained,utr-variant-5-prime rs63749939 chr3 36996702 G A MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs63749829 chr3 37000958 A C,T MLH1 Pathogenic missense,nc-transcript-variant,stop-gained,utr-variant-5-prime rs63749859 chr3 37000976 G C MLH1 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs63750437 chr3 37000977 T A MLH1 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs63750005 chr3 37000992 T T MLH1 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs11541859 chr3 37001012 A C,T MLH1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs63751221 chr3 37001045 G T MLH1 Pathogenic nc-transcript-variant,stop-gained,synonymous-codon,utr-variant-5-prime rs63750542 chr3 37004461 A T MLH1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs63751606 chr3 37004472 A G,T MLH1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs267607742 chr3 37004476 A A,C MLH1 Pathogenic splice-donor-variant rs63751302 chr3 37007055 A T MLH1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs267607751 chr3 37007065 A C MLH1 Pathogenic splice-donor-variant rs193922370 chr3 37008813 G A,C,T MLH1 Pathogenic intron-variant,splice-acceptor-variant rs63750211 chr3 37008904 G G MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs267607767 chr3 37012009 G G MLH1 Pathogenic splice-acceptor-variant rs1799977 chr3 37012077 T C,G MLH1 0.1717/373 Benign missense,nc-transcript-variant,utr-variant-5-prime rs63751615 chr3 37012098 G T MLH1 Pathogenic missense,nc-transcript-variant,stop-gained,utr-variant-5-prime rs63751711 chr3 37012099 G A,T MLH1 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs267607778 chr3 37012100 T A,T MLH1 Pathogenic splice-donor-variant rs63750198 chr3 37014509 A A MLH1 Pathogenic intron-variant,nc-transcript-variant,stop-gained,utr-variant-5-prime rs63751283 chr3 37014533 C G MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,utr-variant-5-prime rs63750650 chr3 37017518 A G MLH1 Benign intron-variant,missense,nc-transcript-variant rs63750691 chr3 37017521 A G MLH1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs63750938 chr3 37017555 G A MLH1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs63749950 chr3 37017557 A T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63751707 chr3 37017597 A T MLH1 Pathogenic intron-variant,nc-transcript-variant,synonymous-codon rs63751598 chr3 37017598 G C,G MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63750144 chr3 37017599 G A,C MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs267607824 chr3 37025726 A C MLH1 Benign nc-transcript-variant,synonymous-codon rs63750483 chr3 37025790 A T MLH1 Pathogenic nc-transcript-variant,stop-gained rs63750540 chr3 37025979 A T MLH1 Pathogenic nc-transcript-variant,stop-gained rs63749795 chr3 37028833 G T MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751472 chr3 37028908 A T MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751705 chr3 37028923 G T MLH1 Pathogenic nc-transcript-variant,stop-gained rs63750300 chr3 37040267 A A MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751087 chr3 37040271 C G MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751596 chr3 37040294 G T MLH1 Pathogenic missense,nc-transcript-variant rs63751460 chr3 37042284 A T MLH1 Pathogenic intron-variant,stop-gained rs63751657 chr3 37042331 G A MLH1 Pathogenic intron-variant,synonymous-codon rs267607853 chr3 37042332 T A,C MLH1 Pathogenic intron-variant,splice-donor-variant rs63750386 chr3 37047597 A T MLH1 Pathogenic nc-transcript-variant,stop-gained rs35001569 chr3 37047639 A G,T MLH1 0.0041/8 Pathogenic missense,nc-transcript-variant,stop-gained rs63750693 chr3 37047652 T A,C MLH1 Pathogenic missense,nc-transcript-variant rs63751415 chr3 37047662 T G MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751632 chr3 37047683 G A MLH1 Pathogenic nc-transcript-variant,synonymous-codon rs1800146 chr3 37048579 C T MLH1 0.0032/7 Benign intron-variant,nc-transcript-variant,synonymous-codon rs63750726 chr3 37048581 T T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63751310 chr3 37048595 G T MLH1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs63749900 chr3 37048596 A A,C,T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63751662 chr3 37048609 G A,T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant,synonymous-codon rs267607883 chr3 37048902 G G MLH1 Pathogenic intron-variant,splice-acceptor-variant rs267607884 chr3 37048903 G A,T MLH1 Pathogenic intron-variant,splice-acceptor-variant rs63749867 chr3 37048954 G A,T MLH1 Pathogenic intron-variant,nc-transcript-variant,stop-gained,synonymous-codon rs63750217 chr3 37048955 C A MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63751275 chr3 37048973 G T MLH1 Pathogenic intron-variant,missense,nc-transcript-variant rs63750702 chr3 37048980 G G MLH1 Benign intron-variant,missense,nc-transcript-variant rs63750561 chr3 37050517 G A MLH1 Pathogenic nc-transcript-variant,stop-gained rs63750499 chr3 37050518 A A MLH1 Pathogenic nc-transcript-variant,stop-gained rs63751022 chr3 37050523 G A MLH1 Pathogenic nc-transcript-variant,stop-gained rs2020873 chr3 37050534 A T MLH1 0.0285/62 Benign missense,nc-transcript-variant rs63750484 chr3 37050545 A A MLH1 Pathogenic nc-transcript-variant,stop-gained rs267607906 chr3 37050576 A T MLH1 Pathogenic nc-transcript-variant,stop-gained rs267607894 chr3 37050628 A A,C MLH1 Pathogenic missense,nc-transcript-variant rs137854603 chr3 38550602 A T SCN5A Pathogenic missense rs199473324 chr3 38550748 T G SCN5A Pathogenic missense rs199473322 chr3 38550823 A G SCN5A Pathogenic missense rs45563942 chr3 38550865 T G SCN5A 0.0018/4 Pathogenic missense rs199473317 chr3 38551003 C C SCN5A Pathogenic missense rs199473294 chr3 38551334 G T SCN5A Pathogenic missense rs199473626 chr3 38551357 A T SCN5A Pathogenic missense rs199473293 chr3 38551373 G T SCN5A Pathogenic missense rs199473279 chr3 38554303 G T SCN5A Pathogenic intron-variant,missense rs199473278 chr3 38554306 G T SCN5A Pathogenic intron-variant,missense rs137854607 chr3 38554309 G G,T SCN5A Pathogenic intron-variant,missense rs199473277 chr3 38554311 A G SCN5A Pathogenic intron-variant,missense rs199473276 chr3 38554313 A C SCN5A Pathogenic intron-variant,missense rs199473620 chr3 38554372 G T SCN5A Pathogenic intron-variant,missense rs199473274 chr3 38554380 A C SCN5A Pathogenic missense rs199473271 chr3 38554450 C T SCN5A Pathogenic missense rs199473618 chr3 38554498 G T SCN5A Pathogenic missense rs199473270 chr3 38554512 T C SCN5A Pathogenic missense rs199473269 chr3 38554519 A T SCN5A Pathogenic missense rs199473617 chr3 38554530 T T SCN5A Pathogenic missense rs199473642 chr3 38554532 A C SCN5A Pathogenic missense rs199473265 chr3 38555698 T A SCN5A Pathogenic missense rs199473263 chr3 38555705 T G SCN5A Pathogenic missense rs199473264 chr3 38555706 G C SCN5A Pathogenic missense rs199473262 chr3 38555714 A G SCN5A Pathogenic missense rs199473261 chr3 38555718 C T SCN5A Pathogenic missense rs199473260 chr3 38555720 T C SCN5A Pathogenic missense rs199473616 chr3 38555731 T A SCN5A Pathogenic missense rs199473259 chr3 38555735 T C SCN5A Pathogenic missense rs199473256 chr3 38556460 A C,G SCN5A Pathogenic missense rs199473255 chr3 38556463 T C SCN5A Pathogenic missense rs199473254 chr3 38556476 A A SCN5A Pathogenic missense rs199473614 chr3 38556491 C A SCN5A Pathogenic missense rs199473253 chr3 38556505 A T SCN5A Pathogenic missense rs199473248 chr3 38556565 G A SCN5A Pathogenic missense rs199473612 chr3 38557247 C A SCN5A Pathogenic intron-variant,missense rs199473244 chr3 38557251 A A SCN5A Pathogenic intron-variant,missense rs137854620 chr3 38557268 A T SCN5A Pathogenic intron-variant,stop-gained rs199473611 chr3 38557272 T G SCN5A Pathogenic intron-variant,missense rs199473242 chr3 38557275 A C SCN5A Pathogenic intron-variant,missense rs199473608 chr3 38560247 T A SCN5A Pathogenic missense rs199473238 chr3 38560252 T C SCN5A Pathogenic missense rs199473237 chr3 38560304 A T SCN5A Pathogenic missense rs199473232 chr3 38560340 T C SCN5A Pathogenic missense rs199473607 chr3 38560343 T G SCN5A Pathogenic missense rs199473231 chr3 38560355 G G SCN5A Pathogenic missense rs199473230 chr3 38560356 C T SCN5A Pathogenic missense rs199473606 chr3 38560357 C A SCN5A Pathogenic missense rs199473229 chr3 38560361 A G SCN5A Pathogenic missense rs199473220 chr3 38562422 C A SCN5A Pathogenic missense rs199473600 chr3 38566498 G T SCN5A Benign missense rs45589741 chr3 38566501 G G SCN5A Pathogenic missense rs199473213 chr3 38566503 C T SCN5A Pathogenic missense rs199473599 chr3 38566522 G T SCN5A Pathogenic missense rs199473212 chr3 38566527 A G SCN5A Pathogenic missense rs199473211 chr3 38566531 A G SCN5A Pathogenic missense rs199473210 chr3 38566533 G G SCN5A Pathogenic missense rs199473208 chr3 38566541 T A SCN5A Pathogenic missense rs7430407 chr3 38580976 T C SCN5A 0.0831/181 Benign synonymous-codon rs199473178 chr3 38585695 G G SCN5A Pathogenic missense rs199473589 chr3 38585698 T C SCN5A Pathogenic missense rs199473176 chr3 38585728 G C SCN5A Pathogenic missense rs199473170 chr3 38585804 G T SCN5A Pathogenic missense rs199473169 chr3 38585821 G G SCN5A Pathogenic missense rs199473340 chr3 38585925 A T SCN5A Pathogenic missense rs199473586 chr3 38585927 C G SCN5A Pathogenic missense rs199473166 chr3 38585936 G A SCN5A Pathogenic missense rs199473159 chr3 38587471 G T SCN5A Pathogenic missense rs199473583 chr3 38587501 T T SCN5A Pathogenic missense rs199473156 chr3 38587545 T C,G SCN5A ?/0 Pathogenic missense rs199473582 chr3 38597755 G T SCN5A 0.0005/1 Pathogenic missense rs199473150 chr3 38597799 T A SCN5A Pathogenic missense rs199473117 chr3 38604745 C C SCN5A Pathogenic missense rs199473116 chr3 38604822 C G SCN5A Benign missense rs199473570 chr3 38605974 C T SCN5A Pathogenic missense rs199473103 chr3 38606102 C G SCN5A Pathogenic missense rs199473104 chr3 38606103 A G SCN5A Pathogenic missense rs199473565 chr3 38606743 G T SCN5A Pathogenic missense rs199473092 chr3 38608175 G C SCN5A Pathogenic missense rs199473091 chr3 38608190 T T SCN5A Pathogenic missense rs199473089 chr3 38608198 T G SCN5A Pathogenic missense rs199473080 chr3 38609843 T T SCN5A Pathogenic missense rs199473070 chr3 38613811 G G,T SCN5A Pathogenic intron-variant,missense rs199473559 chr3 38620843 C A SCN5A Pathogenic missense rs199473062 chr3 38622401 G G,T SCN5A Pathogenic missense rs199473060 chr3 38622468 A T SCN5A Pathogenic missense rs199473557 chr3 38622475 G G SCN5A Pathogenic missense rs199473054 chr3 38630420 G T SCN5A Pathogenic missense rs199473042 chr3 38633304 C T SCN5A Pathogenic missense rs199473550 chr3 38633305 A T SCN5A Pathogenic missense rs6599242 chr3 38698354 G G SCN10A 0.0647/141 Benign synonymous-codon rs3732378 chr3 39265671 T A CX3CR1 0.0969/211 Pathogenic missense rs397514762 chr3 39408633 C A RPSA,SNORA6 Pathogenic downstream-variant-500B,missense rs376393123 chr3 41225850 A G,T CTNNB1 Pathogenic stop-gained rs3856748 chr3 41233859 T T CTNNB1 0.0225/48 Benign synonymous-codon rs397514554 chr3 41234157 G T CTNNB1 Pathogenic stop-gained rs2293303 chr3 41239336 C T CTNNB1 0.0459/100 Benign intron-variant,synonymous-codon rs104893675 chr3 43699326 A G ABHD5 Pathogenic stop-gained rs28939077 chr3 43702470 G C ABHD5 Pathogenic missense rs28939078 chr3 43717675 A A ABHD5 Pathogenic missense rs199589947 chr3 45496316 C A LARS2-AS1,LARS2 0.0009/2 Pathogenic intron-variant,missense rs1799864 chr3 46357717 T A CCR2 0.1690/367 Pathogenic missense rs1800560 chr3 46373205 C A LOC102724297,CCR5 ?/0 Pathogenic intron-variant,stop-gained rs121434597 chr3 46898691 C G PTH1R Pathogenic missense rs387907113 chr3 46993986 G C NBEAL2 Pathogenic missense rs76224909 chr3 48467562 C C TREX1,SHISA5 Pathogenic downstream-variant-500B,missense rs121912855 chr3 48575218 T A COL7A1 Pathogenic missense rs28934589 chr3 48859097 G C SLC25A20 Pathogenic intron-variant,missense rs151340616 chr3 48862581 G A SLC25A20 Pathogenic stop-gained rs267607207 chr3 49123216 T T LAMB2 Pathogenic missense rs121912489 chr3 49126449 T C LAMB2 Pathogenic stop-gained rs387906644 chr3 49132135 G C LAMB2 Pathogenic missense rs121964984 chr3 49419022 A G AMT Pathogenic missense,nc-transcript-variant rs116717961 chr3 49510793 T G DAG1 0.0073/16 Benign missense rs397509422 chr3 49721835 A T GMPPB,RNF123 Pathogenic downstream-variant-500B,intron-variant,missense rs199922550 chr3 49721847 G T GMPPB,RNF123 Pathogenic downstream-variant-500B,intron-variant,missense rs397509426 chr3 49723632 G A GMPPB Pathogenic missense rs142336618 chr3 49723648 C G GMPPB Pathogenic missense rs397515460 chr3 50342047 G A RASSF1,ZMYND10 Pathogenic stop-gained,upstream-variant-2KB rs397514488 chr3 52147039 G G POC1A Pathogenic missense rs387906849 chr3 52405897 T A BAP1 Pathogenic stop-gained rs375129361 chr3 52408056 T A,C BAP1 Pathogenic missense rs104893823 chr3 52451285 C T TNNC1 Pathogenic missense rs386834264 chr3 53673804 T A CACNA1D Pathogenic intron-variant,missense rs41276445 chr3 53730470 G A,G CACNA1D 0.0005/1 Pathogenic missense rs184758350 chr3 57110230 T G IL17RD 0.0009/2 Pathogenic missense,utr-variant-5-prime rs28936703 chr3 57198246 A A HESX1 Pathogenic missense,stop-gained rs104893742 chr3 57198405 C T HESX1 Pathogenic missense,stop-gained rs28936416 chr3 57199842 T G HESX1 Pathogenic missense rs80356506 chr3 58077235 T G FLNB Pathogenic missense rs80356507 chr3 58081689 T G FLNB Pathogenic missense rs80356501 chr3 58136111 C C FLNB Pathogenic intron-variant,missense rs80356515 chr3 58136115 T T FLNB Pathogenic intron-variant,missense rs80356503 chr3 58138491 G A FLNB Pathogenic intron-variant,missense rs80356518 chr3 58163161 G G FLNB Pathogenic stop-gained rs28933391 chr3 58428084 T A PDHB Pathogenic missense,nc-transcript-variant rs27673 chr3 64147674 T G PRICKLE2 0.0115/24 Benign synonymous-codon rs104893745 chr3 69951882 C G MITF Pathogenic missense rs104893747 chr3 69964880 C C MITF Pathogenic missense rs121434272 chr3 71781472 A A PROK2 Pathogenic missense rs137852890 chr3 81536940 T A,T GBE1 Pathogenic stop-gained rs137852894 chr3 81537071 A T GBE1 Pathogenic stop-gained rs137852889 chr3 81537080 G C GBE1 Pathogenic missense rs80338672 chr3 81578000 A A GBE1 Pathogenic missense rs80338671 chr3 81642787 A C,G GBE1 Pathogenic missense rs137852893 chr3 81642989 G A GBE1 Pathogenic missense rs397515342 chr3 81642991 T T GBE1 Pathogenic splice-acceptor-variant rs137852887 chr3 81646403 A T GBE1 Pathogenic missense rs137852892 chr3 81646466 T G GBE1 Pathogenic missense rs137852886 chr3 81648876 G G GBE1 Pathogenic missense rs63750818 chr3 87240749 T G CHMP2B Pathogenic intron-variant,missense rs63750653 chr3 87253421 A T CHMP2B Pathogenic missense rs63750652 chr3 87253711 A A,C CHMP2B Pathogenic splice-acceptor-variant rs63751126 chr3 87253798 C C CHMP2B Pathogenic missense rs104893760 chr3 87260022 T A POU1F1 Pathogenic missense rs104893762 chr3 87260055 T A POU1F1 Pathogenic missense rs104893764 chr3 87260082 C T POU1F1 Pathogenic missense,stop-gained rs104893758 chr3 87262098 T G POU1F1 Pathogenic missense rs35893626 chr3 87273422 G A POU1F1 0.0037/7 Benign intron-variant,missense rs104893757 chr3 87276392 G A POU1F1 Pathogenic missense rs121918476 chr3 93877155 A A,C PROS1 Pathogenic missense rs121918472 chr3 93879306 T C,G PROS1 0.0009/2 Pathogenic missense rs387906674 chr3 93893025 A A PROS1 Pathogenic missense rs121918475 chr3 93898462 A A PROS1 Pathogenic stop-gained rs121918473 chr3 93898524 T C PROS1 Pathogenic missense rs387906675 chr3 93900830 A C PROS1 Pathogenic missense rs104893681 chr3 97791800 G G LOC101929298,ARL6 Pathogenic intron-variant,missense,nc-transcript-variant rs28931603 chr3 98580709 T A CPOX Pathogenic intron-variant,missense rs121917872 chr3 98591089 A A CPOX Pathogenic missense rs267606875 chr3 101242820 A A IMPG2 Pathogenic stop-gained rs267606876 chr3 101243615 G A IMPG2 Pathogenic stop-gained rs571391 chr3 101244310 T A IMPG2 0.3274/713 Benign missense rs387907031 chr3 119413976 A T ARHGAP31 Pathogenic stop-gained rs120074171 chr3 120638471 C A HGD ?/0 Pathogenic missense rs28942100 chr3 120644405 T A HGD 0.0005/1 Pathogenic downstream-variant-500B,intron-variant,missense rs28941783 chr3 120647041 T T HGD Pathogenic missense rs397515518 chr3 120652591 A T HGD Pathogenic splice-donor-variant rs397515347 chr3 120675864 T T HGD Pathogenic splice-acceptor-variant rs373909351 chr3 121772659 T A IQCB1 Pathogenic intron-variant,missense,synonymous-codon rs121918244 chr3 121781772 T A IQCB1 Pathogenic stop-gained,utr-variant-3-prime rs121918245 chr3 121790133 T A IQCB1 Pathogenic stop-gained rs387907009 chr3 121790166 T A IQCB1 Pathogenic stop-gained rs104893702 chr3 122254330 G C CASR Pathogenic missense,utr-variant-5-prime rs121909266 chr3 122257091 G T CASR Pathogenic intron-variant,missense rs104893709 chr3 122257175 G T CASR Pathogenic intron-variant,stop-gained rs104893708 chr3 122257269 T C CASR Pathogenic intron-variant,missense rs121909260 chr3 122257275 G C,G CASR Pathogenic intron-variant,missense rs104893696 chr3 122257277 T C CASR Pathogenic intron-variant,missense rs121909267 chr3 122257288 T G CASR Pathogenic intron-variant,missense rs121909263 chr3 122257308 G T CASR Pathogenic intron-variant,missense rs121909268 chr3 122261574 C G CASR Pathogenic missense rs28936684 chr3 122261715 A A,T CASR Pathogenic missense rs104893716 chr3 122275828 G A CASR Pathogenic missense rs193922423 chr3 122275959 G A CASR Pathogenic missense rs104893712 chr3 122283764 A A CASR Pathogenic missense rs104893701 chr3 122284317 C G CASR Pathogenic missense rs104893693 chr3 122284371 C A,C CASR Pathogenic missense rs104893710 chr3 122284413 C T CASR Pathogenic missense rs387906781 chr3 123620300 C G MYLK-AS1,MYLK Pathogenic intron-variant,missense,utr-variant-5-prime rs121917892 chr3 124737583 A G UMPS Pathogenic missense,nc-transcript-variant rs121917891 chr3 124743926 G C UMPS Pathogenic missense,nc-transcript-variant rs387906631 chr3 128481901 T A GATA2 Pathogenic missense rs104893782 chr3 129532340 G G RHO Pathogenic missense rs137853012 chr3 130963981 C A ATP2C1 Pathogenic missense rs137853015 chr3 130980591 G C ATP2C1 Pathogenic missense rs368138001 chr3 132684751 C A NPHP3-ACAD11,NPHP3 Pathogenic missense,nc-transcript-variant,synonymous-codon rs119456964 chr3 132684784 G A NPHP3-ACAD11,NPHP3 Pathogenic nc-transcript-variant,stop-gained rs119456963 chr3 132688857 G T NPHP3-ACAD11,NPHP3 Pathogenic missense,nc-transcript-variant rs119456961 chr3 132704341 C A NPHP3-ACAD11,NPHP3 Pathogenic nc-transcript-variant,stop-gained rs387907296 chr3 133973807 G A SLCO2A1 Pathogenic missense rs114108011 chr3 134537268 G C CEP63 0.0147/32 Benign missense rs146845434 chr3 134545597 A A CEP63 0.0055/11 Benign synonymous-codon rs34189216 chr3 134549149 A A CEP63 0.0051/11 Benign missense,utr-variant-3-prime rs111033542 chr3 136327239 A T PCCB Pathogenic intron-variant,missense rs28937884 chr3 138946472 T C C3orf72,FOXL2 Pathogenic missense,upstream-variant-2KB rs387907327 chr3 142497116 T A ATR Pathogenic missense,nc-transcript-variant rs121434461 chr3 146071416 G T PLOD2 Pathogenic missense rs398122935 chr3 148741286 G A AGTR1 Pathogenic stop-gained rs397514687 chr3 148741411 G T AGTR1 Pathogenic stop-gained rs104893677 chr3 148741880 G T AGTR1 Pathogenic missense rs201227603 chr3 149145547 T A HPS3 Pathogenic splice-donor-variant rs386134133 chr3 149177896 C T CP Pathogenic missense,nc-transcript-variant rs386134132 chr3 149177905 C C CP Pathogenic missense,nc-transcript-variant rs386134141 chr3 149177980 T T CP Pathogenic splice-acceptor-variant rs386134156 chr3 149178592 A A CP Pathogenic nc-transcript-variant,stop-gained rs386134131 chr3 149178618 C T CP Pathogenic missense,nc-transcript-variant rs121909579 chr3 149179587 A T CP Pathogenic nc-transcript-variant,stop-gained rs115552500 chr3 149183513 G T CP 0.0115/24 Benign missense,nc-transcript-variant rs386134129 chr3 149186723 C T CP Pathogenic intron-variant,missense,nc-transcript-variant rs61733458 chr3 149198428 T A CP 0.0110/24 Pathogenic missense,nc-transcript-variant rs386134128 chr3 149206253 G G CP Pathogenic missense,nc-transcript-variant rs34624984 chr3 149206277 G A CP 0.0087/19 Benign missense,nc-transcript-variant rs386134124 chr3 149210187 G C CP Pathogenic missense,nc-transcript-variant rs200683433 chr3 149212616 T G CP Pathogenic missense,nc-transcript-variant rs121908142 chr3 150928186 G G CLRN1 Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs119470020 chr3 158665443 G G GFM1 Pathogenic missense rs137853116 chr3 160268535 C G IFT80 Pathogenic missense rs138004478 chr3 160356069 A G IFT80 0.0009/2 Pathogenic missense rs137853115 chr3 160377485 T C IFT80 Pathogenic missense,utr-variant-5-prime rs104893683 chr3 161085944 G T B3GALNT1 Pathogenic missense rs28937582 chr3 161085958 C G B3GALNT1 Pathogenic missense rs121912614 chr3 165017621 A T SI Pathogenic missense rs121912613 chr3 165046869 G G SI Pathogenic missense rs267607049 chr3 165060026 G G SI Pathogenic missense rs121912612 chr3 165069101 G C SI Pathogenic missense rs1803274 chr3 165773492 T T BCHE 0.1607/350 Pathogenic missense rs104893684 chr3 165830030 G G BCHE Pathogenic missense rs28933389 chr3 165830222 T A BCHE 0.0005/1 Pathogenic missense rs121909052 chr3 167823019 C G SERPINI1 Pathogenic missense rs121909054 chr3 167825264 G A SERPINI1 Pathogenic missense rs121909053 chr3 167825265 A A SERPINI1 Pathogenic missense rs79668755 chr3 170480891 A A SLC7A14 0.0046/10 Pathogenic missense rs2276717 chr3 170483441 A T SLC7A14 0.0055/11 Pathogenic missense rs121909747 chr3 170999069 G G SLC2A2 Pathogenic missense rs121909743 chr3 171005347 G A SLC2A2 Pathogenic stop-gained rs121909746 chr3 171005389 C A SLC2A2 Pathogenic stop-gained rs5404 chr3 171007166 G T SLC2A2 0.1263/275 Benign synonymous-codon rs5400 chr3 171014511 T A SLC2A2 0.1873/408 Benign intron-variant,missense,utr-variant-5-prime rs137854888 chr3 180987023 T G DNAJC19 Pathogenic intron-variant,splice-acceptor-variant rs119103214 chr3 183037218 A G MCCC1 Pathogenic intron-variant,missense rs2270968 chr3 183037421 G G MCCC1 0.4775/1039 Benign intron-variant,missense rs119103218 chr3 183037432 A C MCCC1 Pathogenic intron-variant,missense rs119103213 chr3 183041679 C G MCCC1 Pathogenic missense,nc-transcript-variant rs113994053 chr3 184137936 G T EIF2B5 Pathogenic missense rs397514646 chr3 184140122 A C EIF2B5 Pathogenic missense rs843358 chr3 184143455 T G EIF2B5 0.3714/809 Benign missense rs119103236 chr3 184245291 G T ALG3 Pathogenic missense,nc-transcript-variant rs119103237 chr3 184245798 G G ALG3 Pathogenic intron-variant,missense,nc-transcript-variant rs267607219 chr3 185534860 A G LIPH Pathogenic missense rs121918122 chr3 186669945 A A HRG Pathogenic missense rs121918131 chr3 186727258 G T KNG1 Pathogenic intron-variant,stop-gained rs121917815 chr3 186854303 G T ADIPOQ-AS1,ADIPOQ Pathogenic missense,nc-transcript-variant rs121908845 chr3 189889478 T C TP63 Pathogenic missense rs121908843 chr3 189890817 G G TP63 Pathogenic intron-variant,missense rs121908846 chr3 189890874 C C,G TP63 Pathogenic intron-variant,missense rs104893724 chr3 190388331 G G CLDN16 Pathogenic missense rs104893720 chr3 190404779 G T CLDN16 Pathogenic intron-variant,stop-gained rs104893730 chr3 190404786 G G CLDN16 Pathogenic intron-variant,missense rs104893729 chr3 190404787 A T CLDN16 Pathogenic intron-variant,missense rs104893725 chr3 190404834 C C CLDN16 Pathogenic intron-variant,missense rs104893722 chr3 190404905 G A CLDN16 Pathogenic intron-variant,missense rs104893726 chr3 190408416 T G CLDN16 Pathogenic missense rs104893727 chr3 190408419 T A CLDN16 Pathogenic missense rs104893728 chr3 190408425 C T CLDN16 Pathogenic missense rs387906880 chr3 190409941 A T CLDN16 Pathogenic stop-gained rs2028574 chr3 191375386 T A CCDC50 0.4991/1087 Benign intron-variant,missense rs293813 chr3 191380177 G C CCDC50 0.3742/815 Benign missense rs147604673 chr3 191389569 G T CCDC50 0.0060/13 Benign missense rs75414918 chr3 193614733 A A OPA1 0.0110/24 Benign missense rs35801538 chr3 193615742 T T OPA1 0.0018/4 Benign synonymous-codon rs7624750 chr3 193617202 T A OPA1 0.4573/995 Benign intron-variant,missense rs28939082 chr3 193637980 A A OPA1 Pathogenic missense rs398124303 chr3 193638064 G G OPA1 Pathogenic missense rs150807064 chr3 193642980 G G OPA1 0.0014/2 Benign synonymous-codon rs387906899 chr3 193643609 T G OPA1 Pathogenic missense rs80356529 chr3 193643996 C A OPA1 Pathogenic missense rs78767626 chr3 193647083 C C OPA1 0.0308/67 Benign synonymous-codon rs398124298 chr3 193647110 C A OPA1 Pathogenic missense rs121908376 chr3 193648109 T G OPA1 Pathogenic missense rs73069703 chr3 193654898 T G OPA1 0.0129/27 Benign synonymous-codon rs116840809 chr3 197954142 G T RPL35A,IQCG Pathogenic intron-variant,stop-gained rs149293844 chr4 634823 G T PDE6B 0.0032/7 Benign synonymous-codon rs78311289 chr4 1806162 A C,G FGFR3 Pathogenic missense rs121913105 chr4 1806163 G T FGFR3 Pathogenic missense rs28928868 chr4 1806164 A C,T FGFR3 Pathogenic missense rs121908426 chr4 5745321 C C EVC Pathogenic missense,nc-transcript-variant rs104893879 chr4 6301739 T A WFS1 Pathogenic stop-gained rs2230721 chr4 6302117 T A WFS1 0.0441/95 Benign synonymous-codon rs141328044 chr4 6302130 T A WFS1 0.0060/13 Benign missense rs387906931 chr4 6302133 G A WFS1 Pathogenic missense rs62000428 chr4 15514710 A A CC2D2A 0.0110/24 Benign missense rs2286976 chr4 15514766 G T CC2D2A 0.1093/238 Benign synonymous-codon rs16892095 chr4 15516734 G C CC2D2A 0.1208/263 Benign missense rs118204053 chr4 15559183 G T CC2D2A Pathogenic stop-gained rs386833750 chr4 15563485 G G,T CC2D2A Pathogenic missense,stop-gained rs267606709 chr4 15567735 G T CC2D2A Pathogenic missense rs118204051 chr4 15567752 C T CC2D2A Pathogenic missense rs61734948 chr4 15570411 A A CC2D2A 0.0087/19 Benign missense rs137853005 chr4 15994028 C A,T PROM1 Pathogenic stop-gained rs104893864 chr4 17501833 C C QDPR Pathogenic missense,nc-transcript-variant rs2302566 chr4 25124081 T G SEPSECS 0.0973/211 Benign missense rs61747281 chr4 25151984 G C SEPSECS Benign synonymous-codon rs267607035 chr4 25152049 C T SEPSECS Pathogenic missense rs387906980 chr4 39231943 G C WDR19 Pathogenic missense rs121917767 chr4 41260751 G G,T UCHL1 Pathogenic missense rs57655409 chr4 42893406 C T GRXCR1 0.1524/331 Benign missense rs61733348 chr4 43030444 A T GRXCR1 0.1387/301 Benign synonymous-codon rs387906894 chr4 47683803 G C CORIN Pathogenic missense rs28936383 chr4 52028899 T C SGCB Pathogenic missense rs104893870 chr4 52029784 G C SGCB Pathogenic missense rs115928999 chr4 52033582 T A SGCB 0.0018/4 Benign missense,upstream-variant-2KB rs121908589 chr4 54274851 T G PDGFRA Pathogenic missense rs121908587 chr4 54278380 A T PDGFRA Pathogenic missense rs3822214 chr4 54727298 T C,G KIT 0.0638/138 Benign downstream-variant-500B,missense rs121913517 chr4 54727444 T A,C,G KIT Pathogenic downstream-variant-500B,missense rs121913680 chr4 54727515 A A KIT Pathogenic downstream-variant-500B,missense rs28933371 chr4 54727519 T G KIT Pathogenic downstream-variant-500B,missense rs121913512 chr4 54728055 A G KIT Pathogenic missense rs121913684 chr4 54733094 G G KIT Pathogenic missense rs121913506 chr4 54733154 A C,T KIT Pathogenic missense rs121913507 chr4 54733155 C T KIT Pathogenic missense rs115408010 chr4 55953268 G T CEP135 0.0018/4 Benign synonymous-codon rs77591659 chr4 55954246 T A CEP135 0.0165/35 Benign missense rs3214045 chr4 56008351 T C,G CEP135 0.1648/358 Benign missense rs113687114 chr4 56011907 C G CEP135 0.0110/24 Benign synonymous-codon rs35143702 chr4 56017821 C G CEP135 0.0275/59 Benign synonymous-codon rs387907189 chr4 56476680 C A SRP72 Pathogenic missense rs104893847 chr4 67740508 G A GNRHR Pathogenic missense,utr-variant-3-prime rs104893837 chr4 67740682 G T GNRHR 0.0009/2 Pathogenic missense,synonymous-codon rs104893839 chr4 67744659 C T GNRHR Pathogenic missense,synonymous-codon rs74452732 chr4 67753825 A A,T GNRHR Pathogenic missense rs104893840 chr4 67753832 C T GNRHR Pathogenic missense rs104893836 chr4 67754019 G C GNRHR 0.0023/4 Pathogenic missense rs104893844 chr4 67754068 C T GNRHR Pathogenic missense,stop-gained rs1136511 chr4 70033186 A A LOC102724794,HTN3 0.0372/81 Benign intron-variant,missense rs121908858 chr4 71339333 A T SLC4A4 Pathogenic intron-variant,stop-gained rs121908857 chr4 71472728 C A SLC4A4 Pathogenic missense rs77408163 chr4 73404407 T A ALB Pathogenic splice-donor-variant rs121912685 chr4 73442356 G A AFP Pathogenic stop-gained rs120074158 chr4 78387525 A T FRAS1 Pathogenic stop-gained rs120074156 chr4 78481962 A T FRAS1 Pathogenic stop-gained rs137852901 chr4 79983915 A C ANTXR2 Pathogenic missense rs137852904 chr4 80036011 A A ANTXR2 Pathogenic stop-gained rs137852905 chr4 80054342 T G ANTXR2 Pathogenic missense rs121912986 chr4 87610957 C A DSPP Pathogenic missense rs121912987 chr4 87612105 T T DSPP Pathogenic missense rs121912985 chr4 87612186 A T DSPP Pathogenic stop-gained rs36094464 chr4 87612388 G T DSPP 0.1088/236 Pathogenic missense rs104893834 chr4 87656493 T G DMP1 Pathogenic missense rs17013754 chr4 88046681 T G PKD2 0.0096/20 Benign nc-transcript-variant,synonymous-codon rs121918043 chr4 88046854 T T PKD2 Pathogenic missense,nc-transcript-variant rs121918040 chr4 88065479 G T PKD2 Pathogenic downstream-variant-500B,stop-gained rs200190472 chr4 88118214 A A ABCG2 Pathogenic stop-gained rs104893878 chr4 89835580 T G RP11-67M1.1,SNCA Pathogenic missense,upstream-variant-2KB rs121434417 chr4 95129875 A A BMPR1B Pathogenic missense rs991811 chr4 99589702 C C MTTP 0.4904/1067 Benign synonymous-codon rs982424 chr4 99591255 A C MTTP 0.1501/327 Benign synonymous-codon rs2306985 chr4 99594865 T G MTTP 0.4922/1072 Benign missense rs17533489 chr4 99597126 G C MTTP 0.0657/143 Benign synonymous-codon rs199422222 chr4 99608977 G T MTTP Pathogenic missense rs146064714 chr4 99622756 G T MTTP Pathogenic stop-gained rs10516487 chr4 101829919 C A BANK1 0.2245/489 Pathogenic intron-variant,missense rs2272697 chr4 102634835 G G MANBA 0.4490/978 Benign synonymous-codon rs121434336 chr4 102669004 A A MANBA Pathogenic stop-gained rs63749888 chr4 102885221 A C SLC9B1,CISD2 Pathogenic missense,nc-transcript-variant,utr-variant-3-prime rs121918125 chr4 103591515 A A TACR3 Pathogenic missense rs397515483 chr4 103656316 C G TACR3 Pathogenic missense rs397514515 chr4 107945263 G C CYP2U1 Pathogenic intron-variant,missense rs397514513 chr4 107945426 C T CYP2U1 Pathogenic intron-variant,missense rs137853102 chr4 108009797 C A HADH Pathogenic missense rs375717077 chr4 108027757 G T HADH Pathogenic stop-gained rs121964916 chr4 109760567 C T CFI Pathogenic missense rs397509379 chr4 109869900 A G LRIT3 Pathogenic stop-gained rs121434567 chr4 110004540 T T EGF Pathogenic intron-variant,missense,nc-transcript-variant rs104893859 chr4 110618669 G G PITX2 Pathogenic missense rs79383654 chr4 112644679 A A LARP7 0.0684/149 Benign missense,nc-transcript-variant rs36210416 chr4 113287647 T A ANK2 Pathogenic missense rs199473343 chr4 113353581 T A ANK2 Pathogenic intron-variant,missense rs199473345 chr4 113355823 C C ANK2 Benign intron-variant,missense rs199473346 chr4 113363439 G A ANK2 Pathogenic missense rs45570339 chr4 113363442 T G ANK2 0.0014/2 Pathogenic missense rs143228029 chr4 113365050 T A ANK2 Pathogenic missense rs66785829 chr4 113365051 T A ANK2 0.0018/4 Pathogenic missense rs199473347 chr4 113367619 A A ANK2 Pathogenic missense rs72556370 chr4 113373162 T A,C ANK2 Pathogenic missense rs28661939 chr4 118298754 C A PRSS12 0.1120/243 Benign missense rs2292597 chr4 118316193 T C PRSS12 0.4633/1008 Benign synonymous-codon rs199476398 chr4 119150937 C C MYOZ2 Pathogenic missense rs117556704 chr4 119158135 G G MYOZ2 0.0110/24 Benign synonymous-codon rs17049982 chr4 119186155 G T MYOZ2 0.0073/16 Benign synonymous-codon rs119466001 chr4 121847473 G C BBS7 Pathogenic missense rs121918328 chr4 122742757 C C BBS12 Pathogenic missense rs121918327 chr4 122742955 G T BBS12 Pathogenic stop-gained rs398122955 chr4 125434349 A A FAT4 Pathogenic missense rs370088878 chr4 125450497 A A,T FAT4 Pathogenic stop-gained rs118203976 chr4 127921588 C T MFSD8 Pathogenic missense,utr-variant-3-prime rs3733319 chr4 127921606 C A MFSD8 0.1405/306 Benign missense,utr-variant-3-prime rs118203975 chr4 127930752 C T MFSD8 Pathogenic missense,utr-variant-3-prime rs118203977 chr4 127930787 T C MFSD8 Pathogenic stop-gained,utr-variant-3-prime rs1800582 chr4 144119686 G T GYPA Pathogenic missense rs104893846 chr4 145639422 A T MMAA Pathogenic stop-gained rs104893851 chr4 145639572 G T MMAA Pathogenic stop-gained rs104893849 chr4 145646043 C G MMAA Pathogenic missense rs2270655 chr4 145655266 A C MMAA 0.0606/132 Benign missense rs121912573 chr4 148152526 A A NR3C2 Pathogenic missense rs41511344 chr4 148152550 A A NR3C2 Pathogenic missense rs121912565 chr4 148154589 G C NR3C2 Pathogenic intron-variant,missense rs121912572 chr4 148154892 A C NR3C2 Pathogenic intron-variant,stop-gained rs121912571 chr4 148154899 T A NR3C2 Pathogenic intron-variant,stop-gained rs121912566 chr4 148259978 T T NR3C2 Pathogenic missense rs121912562 chr4 148435252 T A,C NR3C2 0.0005/1 Pathogenic stop-gained rs121912570 chr4 148435553 C T NR3C2 Pathogenic stop-gained rs121912568 chr4 148436373 A C NR3C2 Pathogenic stop-gained rs199469663 chr4 150302705 T C LRBA Pathogenic missense rs199469662 chr4 150828304 G A LRBA Pathogenic stop-gained rs199469664 chr4 151014468 T A LRBA Pathogenic stop-gained rs121909622 chr4 154570463 T A FGB Pathogenic missense rs78506343 chr4 154585711 G A,T FGA Pathogenic missense rs121909611 chr4 154585991 G A FGA Pathogenic stop-gained rs146387238 chr4 154587511 C A FGA Pathogenic splice-donor-variant rs398122856 chr4 157136872 G G GLRB Pathogenic missense rs121909749 chr4 157143807 C A GLRB Pathogenic missense rs11559290 chr4 158680524 A T ETFDH 0.2773/604 Benign intron-variant,missense,upstream-variant-2KB rs121964955 chr4 158685137 C A,T ETFDH Pathogenic missense rs398124152 chr4 158706270 G T ETFDH Pathogenic missense rs121434480 chr4 174508699 T G HPGD Pathogenic intron-variant,missense rs121964904 chr4 177438764 A G AGA 0.0009/2 Pathogenic missense,nc-transcript-variant rs2228119 chr4 177438806 T C AGA 0.0657/143 Benign missense,nc-transcript-variant rs121964908 chr4 177439668 C A AGA Pathogenic missense,nc-transcript-variant rs397509417 chr4 183701783 G A TRAPPC11 Pathogenic missense rs3775291 chr4 186082920 T T TLR3 0.2502/545 Pathogenic missense rs199476185 chr4 186194522 T T CYP4V2 Pathogenic missense,utr-variant-5-prime rs199476189 chr4 186196075 G T CYP4V2 Pathogenic intron-variant,stop-gained rs199476191 chr4 186197583 A C CYP4V2 Pathogenic missense rs199476194 chr4 186201313 G T CYP4V2 Pathogenic stop-gained rs199476195 chr4 186201326 C T CYP4V2 Pathogenic missense rs199476196 chr4 186201329 C T CYP4V2 Pathogenic missense rs199476198 chr4 186205232 T A CYP4V2 Pathogenic stop-gained rs199476199 chr4 186205233 C C CYP4V2 Pathogenic missense rs199476183 chr4 186208863 G G CYP4V2 Pathogenic splice-acceptor-variant rs199476200 chr4 186208931 G C CYP4V2 Pathogenic missense rs138444697 chr4 186208972 G T CYP4V2 Pathogenic missense rs199476203 chr4 186208973 T A CYP4V2 0.0005/1 Pathogenic missense rs146494374 chr4 186210508 G A,T CYP4V2 Pathogenic stop-gained rs119103284 chr4 186210586 T A CYP4V2 Pathogenic missense rs199476205 chr4 186210589 A T CYP4V2 Pathogenic missense rs121964949 chr4 186236789 G T KLKB1 Pathogenic stop-gained rs121965069 chr4 186271719 G C F11 Pathogenic missense rs121965063 chr4 186274193 A T F11 Pathogenic stop-gained rs121965064 chr4 186280258 T C F11 Pathogenic intron-variant,missense rs121965068 chr4 186284245 T T F11 Pathogenic missense rs121965072 chr4 186288496 G C F11,F11-AS1 Pathogenic missense,nc-transcript-variant rs1139424 chr5 224518 C G SDHA 0.1662/362 Benign synonymous-codon rs151266052 chr5 240448 A T SDHA 0.0032/7 Pathogenic missense rs397514541 chr5 240451 G T SDHA Pathogenic missense rs7732589 chr5 1213553 T A SLC6A19 0.1905/415 Benign missense rs121918665 chr5 1264541 T G TERT Pathogenic intron-variant,missense rs387907250 chr5 1264542 T C TERT Pathogenic intron-variant,missense rs201159197 chr5 1266519 C A,T TERT 0.0005/1 Pathogenic missense,nc-transcript-variant rs121918666 chr5 1266524 G T TERT Pathogenic missense,nc-transcript-variant rs387907191 chr5 6611067 C A NSUN2 Pathogenic nc-transcript-variant,stop-gained rs137853062 chr5 7891405 G T MTRR Pathogenic missense,nc-transcript-variant rs118203986 chr5 10256063 C G CCT5 ?/0 Pathogenic missense rs121908853 chr5 13901476 C A DNAH5 Pathogenic stop-gained rs34432513 chr5 16475100 T C FAM134B 0.0156/34 Benign missense rs121912619 chr5 33951628 G G SLC45A2 Pathogenic missense,utr-variant-3-prime rs2278008 chr5 33989413 T T C1QTNF3-AMACR,AMACR 0.2332/508 Benign missense,nc-transcript-variant,utr-variant-3-prime rs121917816 chr5 34005827 G G C1QTNF3-AMACR,AMACR Pathogenic missense,nc-transcript-variant rs398122522 chr5 35070174 G C PRLR Pathogenic missense,nc-transcript-variant rs1494558 chr5 35860966 C C IL7R 0.3871/842 Pathogenic missense rs104893893 chr5 35873593 A A IL7R Pathogenic stop-gained rs137852620 chr5 36674080 G A SLC1A3 Pathogenic intron-variant,missense rs2032892 chr5 36676981 G C SLC1A3 0.0225/48 Benign intron-variant,missense rs80358367 chr5 36955540 G T NIPBL Pathogenic stop-gained rs80358360 chr5 36962249 A G NIPBL Pathogenic stop-gained rs80358374 chr5 37000513 G T NIPBL Pathogenic intron-variant,stop-gained rs80358369 chr5 37010176 A A NIPBL Pathogenic stop-gained rs121918269 chr5 37014728 G T NIPBL Pathogenic stop-gained rs80358362 chr5 37022256 G T NIPBL Pathogenic stop-gained rs80358366 chr5 37022272 A A NIPBL Pathogenic missense rs80358363 chr5 37048543 A T NIPBL Pathogenic stop-gained rs398124471 chr5 37052522 G T NIPBL Pathogenic stop-gained rs121918265 chr5 37057211 T G NIPBL Pathogenic intron-variant,missense rs80358370 chr5 37057249 A T NIPBL Pathogenic intron-variant,stop-gained rs398124474 chr5 37064854 G T NIPBL Pathogenic stop-gained,utr-variant-3-prime rs121912501 chr5 38496478 T A LIFR 0.0005/1 Pathogenic stop-gained rs387906821 chr5 38924491 T T OSMR Pathogenic missense rs121909594 chr5 39306753 A C C9 Pathogenic stop-gained rs121909593 chr5 39341267 C C C9 Pathogenic missense rs121909592 chr5 39341276 C A C9 0.0037/7 Pathogenic stop-gained rs34000044 chr5 39342112 C A,T C9 0.0009/2 Pathogenic stop-gained rs387906509 chr5 40979743 G A C7 Pathogenic stop-gained rs121909301 chr5 41803148 C T OXCT1 Pathogenic missense,nc-transcript-variant rs121909299 chr5 41805674 A C OXCT1 Pathogenic nc-transcript-variant,stop-gained rs267606930 chr5 41853435 C T OXCT1 Pathogenic missense,nc-transcript-variant rs121909359 chr5 42688921 C A GHR Pathogenic stop-gained rs6413484 chr5 42699868 T A,T GHR 0.0060/13 Pathogenic missense rs121909373 chr5 42699888 G G GHR Pathogenic missense rs121909366 chr5 42699892 A C GHR Pathogenic missense rs121909367 chr5 42699896 C C GHR Pathogenic missense rs121909368 chr5 42699899 A C GHR Pathogenic missense rs121909369 chr5 42699902 G G GHR Pathogenic missense rs121909362 chr5 42699919 G T GHR 0.0023/4 Pathogenic missense rs121909363 chr5 42711291 G T GHR Pathogenic stop-gained rs121909364 chr5 42711312 A A,T GHR Pathogenic stop-gained rs45588036 chr5 42711314 T C GHR Pathogenic missense rs387907232 chr5 43649300 A T NNT Pathogenic missense rs387907234 chr5 43702647 C C NNT Pathogenic missense rs104893885 chr5 44388366 A A FGF10-AS1,FGF10 Pathogenic missense,upstream-variant-2KB rs104893888 chr5 44388443 C G FGF10-AS1,FGF10 Pathogenic missense,synonymous-codon,upstream-variant-2KB rs121908606 chr5 53107172 A T MOCS2 Pathogenic missense rs31304 chr5 53646253 G C NDUFS4 0.0730/159 Benign synonymous-codon rs31303 chr5 53646367 G G NDUFS4 0.2130/463 Benign synonymous-codon rs387906788 chr5 56856683 G C,G MAP3K1 Pathogenic missense rs397514469 chr5 58975076 C T PDE4D Pathogenic missense rs397514467 chr5 58976421 C G PDE4D Pathogenic missense rs397514468 chr5 59193502 A C PDE4D Pathogenic missense rs397514465 chr5 59193507 A G PDE4D Pathogenic missense rs397514464 chr5 59193511 A T PDE4D Pathogenic missense rs281875221 chr5 60887479 C A ERCC8 Pathogenic missense rs121434325 chr5 60904794 C A ERCC8 Pathogenic intron-variant,missense rs397509384 chr5 68280983 G A PIK3R1 Pathogenic stop-gained rs1185246 chr5 69419483 T T MARVELD2 0.4770/1038 Benign missense rs118203957 chr5 69433088 G T MARVELD2 Pathogenic stop-gained rs104893930 chr5 70938845 A A SMN1 Pathogenic missense rs77804083 chr5 70942389 G C,T SMN1 Pathogenic missense rs104893935 chr5 70942416 T G SMN1 Pathogenic missense rs397514518 chr5 70942472 A C SMN1 Pathogenic missense rs397514517 chr5 70942473 T G SMN1 Pathogenic missense rs104893932 chr5 70946126 G G SMN1 Pathogenic missense rs75660264 chr5 70946127 T T SMN1 Pathogenic missense rs104893922 chr5 70946157 T G SMN1 Pathogenic missense rs76871093 chr5 70946163 T T SMN1 Pathogenic missense rs119103219 chr5 71599672 A C MCCC2 0.0009/2 Pathogenic missense rs398124372 chr5 71599757 A G MCCC2 Pathogenic stop-gained rs119103225 chr5 71604413 C G MCCC2 Pathogenic missense rs119103223 chr5 71632185 G C MCCC2 Pathogenic missense rs119103221 chr5 71635176 T G MCCC2 Pathogenic missense rs119103224 chr5 71649189 T G,T MCCC2 Pathogenic missense rs10064079 chr5 71649248 T G MCCC2 0.1506/328 Benign synonymous-codon rs121907986 chr5 74713584 G T HEXB Pathogenic stop-gained rs114661695 chr5 74715659 T C HEXB 0.0073/16 Benign synonymous-codon rs28942073 chr5 74718804 G T HEXB 0.0014/2 Pathogenic missense rs121907982 chr5 74718921 T C HEXB 0.0005/1 Pathogenic missense rs121908904 chr5 78129219 G C AP3B1 Pathogenic missense rs118203941 chr5 78781974 C T ARSB Pathogenic missense rs25413 chr5 78839378 G T ARSB 0.2231/485 Benign synonymous-codon rs118203944 chr5 78839391 G G ARSB Pathogenic missense rs118203940 chr5 78955486 G G ARSB Pathogenic missense rs387906619 chr5 80649393 T A DHFR Pathogenic missense,nc-transcript-variant rs137853218 chr5 87333291 G T RASA1 Pathogenic stop-gained rs397514656 chr5 88804776 C G MEF2C Pathogenic missense rs41311333 chr5 90619108 T G GPR98 0.0234/51 Benign missense,nc-transcript-variant rs199873924 chr5 90622606 T G GPR98 Benign missense,nc-transcript-variant rs41303344 chr5 90627284 G A GPR98 0.0055/11 Benign missense,nc-transcript-variant rs6889939 chr5 90629352 G C GPR98 0.0119/26 Benign missense,nc-transcript-variant rs950692 chr5 90647616 A G GPR98 0.2094/455 Benign nc-transcript-variant,synonymous-codon rs147062294 chr5 90652411 T G GPR98 0.0032/7 Benign missense,nc-transcript-variant rs41303346 chr5 90675436 G A GPR98 0.0078/17 Benign nc-transcript-variant,synonymous-codon rs41302834 chr5 90683751 A A GPR98 0.0023/4 Benign missense,nc-transcript-variant rs4916684 chr5 90683772 T A GPR98 0.2098/457 Benign missense,nc-transcript-variant rs16868972 chr5 90683933 A T GPR98 0.2893/629 Benign missense,nc-transcript-variant rs142013761 chr5 90684016 G T GPR98 0.0028/5 Benign missense,nc-transcript-variant rs16868974 chr5 90685794 G T GPR98 0.0349/76 Benign missense,nc-transcript-variant rs2366926 chr5 90692687 T G GPR98 0.3494/760 Benign missense,nc-transcript-variant rs111033452 chr5 90693932 G T GPR98 0.0051/11 Benign nc-transcript-variant,synonymous-codon rs111033429 chr5 90693935 A T GPR98 0.0055/11 Benign nc-transcript-variant,synonymous-codon rs16876822 chr5 90693962 G A GPR98 0.3494/760 Benign nc-transcript-variant,synonymous-codon rs148932387 chr5 90694040 G C GPR98 0.0110/24 Benign nc-transcript-variant,synonymous-codon rs75191159 chr5 90694332 T G GPR98 0.0207/45 Benign missense,nc-transcript-variant rs201733037 chr5 90694338 C T GPR98 Benign missense,nc-transcript-variant rs116446814 chr5 90697124 A T GPR98 0.0028/5 Benign nc-transcript-variant,synonymous-codon rs16869032 chr5 90721054 C A GPR98 0.2112/460 Benign missense,nc-transcript-variant rs144618536 chr5 90745103 T A GPR98 0.0028/5 Benign missense,nc-transcript-variant rs75480336 chr5 90750607 G G,T GPR98 0.0069/14 Benign missense,nc-transcript-variant,synonymous-codon rs376689763 chr5 90753705 A G,T GPR98 Pathogenic nc-transcript-variant,stop-gained rs74327115 chr5 90755077 C A GPR98 0.0234/51 Benign nc-transcript-variant,synonymous-codon rs10062026 chr5 90756472 A A GPR98 0.3352/730 Benign missense,nc-transcript-variant rs62000408 chr5 90789837 T C GPR98 0.0404/87 Benign missense,nc-transcript-variant rs41304892 chr5 90791138 C A GPR98 0.0028/5 Benign missense,nc-transcript-variant rs79464236 chr5 90791344 A G GPR98 0.0129/27 Benign missense,nc-transcript-variant rs61731030 chr5 90802875 T G GPR98 0.0037/7 Benign missense,nc-transcript-variant rs2438374 chr5 90811291 G G GPR98 0.0523/114 Benign missense,nc-transcript-variant rs41304884 chr5 90815704 T G GPR98 0.0073/16 Benign nc-transcript-variant,synonymous-codon rs121909763 chr5 90985501 T G GPR98 Pathogenic missense,nc-transcript-variant rs137852821 chr5 96399020 A T CTD-2337A12.1,PCSK1 Pathogenic intron-variant,missense rs137852822 chr5 96412452 A A CTD-2337A12.1,PCSK1 Pathogenic intron-variant,stop-gained rs118204022 chr5 111104342 T G WDR36 Pathogenic missense rs35703638 chr5 111106140 C A WDR36 0.0028/5 Pathogenic missense rs137854567 chr5 112819272 G T APC 0.0009/2 Pathogenic missense rs137854580 chr5 112827194 G G,T APC Pathogenic missense,stop-gained rs387906230 chr5 112827199 G G APC Pathogenic stop-gained rs137854572 chr5 112828001 A T APC Pathogenic stop-gained rs398123116 chr5 112828888 C A APC Pathogenic stop-gained rs137854573 chr5 112828889 G T APC Pathogenic stop-gained rs398123117 chr5 112837959 A T APC Pathogenic stop-gained rs398123119 chr5 112838325 A T APC Pathogenic stop-gained rs2229994 chr5 112842795 T T APC 0.0110/24 Benign synonymous-codon rs35043160 chr5 112843298 A G APC 0.0266/57 Benign synonymous-codon rs25640 chr5 119475838 T A,C HSD17B4 0.3994/869 Pathogenic missense rs137853097 chr5 119509176 A T HSD17B4 Pathogenic missense rs121912710 chr5 126552114 T C ALDH7A1 Pathogenic stop-gained rs121912711 chr5 126561094 T A ALDH7A1 Pathogenic missense rs57902950 chr5 126575440 A A ALDH7A1 0.0170/37 Benign synonymous-codon rs121912709 chr5 126577133 C A ALDH7A1 Pathogenic missense rs117295656 chr5 126583952 C C ALDH7A1 0.0087/19 Benign missense rs34224885 chr5 126804848 A A LMNB1 0.0275/59 Benign synonymous-codon,utr-variant-5-prime rs387907074 chr5 127339214 G T MEGF10 Pathogenic missense rs76756898 chr5 128261753 A G FBN2 0.0110/24 Benign missense rs190450 chr5 128278780 C G FBN2 0.2709/590 Benign synonymous-codon rs17608368 chr5 128286782 A T FBN2 0.0073/16 Benign synonymous-codon rs34201226 chr5 128332928 T A FBN2 0.0060/13 Benign synonymous-codon rs28763943 chr5 128334720 G G FBN2 0.0129/27 Benign synonymous-codon rs267606802 chr5 128335525 T T FBN2 Pathogenic missense rs137852827 chr5 128344385 C G FBN2 Pathogenic missense rs28763946 chr5 128345559 A A,G FBN2 0.0197/43 Benign missense rs373849532 chr5 131159494 A T HINT1 Pathogenic missense,nc-transcript-variant rs397514493 chr5 131159550 C T HINT1 Pathogenic missense,nc-transcript-variant rs397514489 chr5 131159578 T G HINT1 Pathogenic missense,nc-transcript-variant rs397514492 chr5 131162604 G A HINT1 Pathogenic nc-transcript-variant,stop-gained rs121908888 chr5 132384281 T G SLC22A5 Pathogenic missense,nc-transcript-variant rs114269482 chr5 132385370 G T SLC22A5 0.0009/2 Pathogenic missense,nc-transcript-variant rs72552735 chr5 132392598 C T SLC22A5 Pathogenic downstream-variant-500B,missense rs28942109 chr5 134608443 G T SAR1B Pathogenic missense rs137853125 chr5 134608488 A A SAR1B Pathogenic stop-gained rs121909216 chr5 136055795 G G TGFBI Pathogenic missense rs121909214 chr5 136056736 T C TGFBI Pathogenic missense rs199469645 chr5 137625818 A C KLHL3 Pathogenic missense rs199469638 chr5 137661950 G A KLHL3 Pathogenic stop-gained rs121908461 chr5 137870767 C T LOC101928005,MYOT Pathogenic intron-variant,missense rs28937597 chr5 137870821 A T LOC101928005,MYOT Pathogenic intron-variant,missense rs121908458 chr5 137870830 T G,T LOC101928005,MYOT Pathogenic intron-variant,missense rs119456967 chr5 138947133 G G SIL1 Pathogenic missense rs115800498 chr5 139042705 T A SIL1 0.0018/4 Benign missense rs397515410 chr5 140695810 T G HARS2 Pathogenic missense rs2302102 chr5 141524225 C A DIAPH1 0.0257/56 Benign synonymous-codon rs104893914 chr5 143282714 G T NR3C1 Pathogenic missense rs104893908 chr5 143295561 C A NR3C1 Pathogenic missense rs104893909 chr5 143300556 T T NR3C1 Pathogenic missense rs398123070 chr5 146340404 A A POU4F3 Pathogenic missense rs17107315 chr5 147828115 T C SPINK1 0.0060/13 Pathogenic missense rs104893938 chr5 147831576 T G SPINK1 Pathogenic missense rs121908387 chr5 148120063 G T SPINK5 Pathogenic stop-gained rs398122838 chr5 148404708 G C FBXO38 Pathogenic missense rs80338935 chr5 149010271 G G SH3TC2 Pathogenic missense rs80338934 chr5 149010272 G A SH3TC2 Pathogenic stop-gained rs80338933 chr5 149026872 A A SH3TC2 Pathogenic stop-gained rs80338932 chr5 149026903 T C SH3TC2 Pathogenic stop-gained rs80338931 chr5 149027022 T A SH3TC2 Pathogenic stop-gained rs80338921 chr5 149038376 A T SH3TC2 Pathogenic stop-gained rs80338920 chr5 149041619 G C SH3TC2 Pathogenic splice-acceptor-variant rs17722293 chr5 149042711 C T SH3TC2 0.0601/130 Benign missense rs80359890 chr5 149042718 T G SH3TC2 Pathogenic missense rs121918577 chr5 149907345 C A,T PDE6A Pathogenic missense,nc-transcript-variant rs104893919 chr5 149978184 G T SLC26A2 Pathogenic stop-gained rs104893924 chr5 149981550 G A SLC26A2 Pathogenic missense rs104893916 chr5 149981626 A T SLC26A2 Pathogenic missense rs281860278 chr5 150055288 G G CSF1R Pathogenic missense,nc-transcript-variant rs281860277 chr5 150056034 A G CSF1R Pathogenic missense,nc-transcript-variant rs397515557 chr5 150056097 A G CSF1R Pathogenic missense,nc-transcript-variant rs28941769 chr5 150361196 T G TCOF1 Pathogenic missense,nc-transcript-variant rs73270831 chr5 150361209 C G TCOF1 0.0101/21 Benign nc-transcript-variant,synonymous-codon rs34796297 chr5 150376282 T G TCOF1 0.0188/40 Benign nc-transcript-variant,synonymous-codon rs45491898 chr5 150396792 A C TCOF1 0.0165/35 Benign missense rs121918418 chr5 151829009 A T GLRA1 Pathogenic stop-gained rs121918410 chr5 151829060 A C,G GLRA1 Pathogenic missense rs121918409 chr5 151851487 T T GLRA1 Pathogenic missense rs281864917 chr5 151851501 C G GLRA1 Pathogenic missense rs121918417 chr5 151851525 C C GLRA1 Pathogenic missense rs121918415 chr5 151855047 T T GLRA1 Pathogenic stop-gained rs7725121 chr5 156326973 C T SGCD 0.0588/127 Benign intron-variant,upstream-variant-2KB,utr-variant-5-prime rs45559835 chr5 156508698 A A SGCD 0.0220/48 Benign missense rs397514260 chr5 157248980 C G ITK Pathogenic stop-gained rs76224028 chr5 161854179 G G GABRA1 0.0073/16 Benign synonymous-codon rs1129647 chr5 161854239 T C GABRA1 0.2489/541 Benign synonymous-codon rs138259457 chr5 161897374 T A GABRA1 0.0051/11 Benign synonymous-codon rs121909673 chr5 162093965 G A GABRG2 Pathogenic missense rs11135176 chr5 162095550 G T GABRG2 0.1180/256 Benign synonymous-codon rs267606837 chr5 162097839 G G GABRG2 Pathogenic missense rs78261481 chr5 162103974 T G GABRG2 0.0101/21 Benign synonymous-codon rs387906773 chr5 173235040 T A NKX2-5 Pathogenic missense,upstream-variant-2KB rs28932176 chr5 177210191 T C NSD1 0.0028/5 Benign synonymous-codon rs115722008 chr5 177210849 T T NSD1 0.0009/2 Benign missense rs193290006 chr5 177211586 C G NSD1 0.0037/7 Benign missense rs28932181 chr5 177212104 G C NSD1 0.0836/181 Benign synonymous-codon rs28580074 chr5 177294197 T C NSD1 0.2245/489 Benign synonymous-codon rs121434304 chr5 178989075 T G GRM6 Pathogenic missense rs267607037 chr6 2948696 C A SERPINB6 Pathogenic stop-gained rs397514611 chr6 5545261 C C FARS2 Pathogenic missense rs121913064 chr6 6151813 G A,T F13A1 Pathogenic missense rs267606789 chr6 6151874 C A F13A1 Pathogenic stop-gained rs121913066 chr6 6182121 T T F13A1 Pathogenic stop-gained rs121913074 chr6 6224808 A C F13A1 Pathogenic missense rs267606788 chr6 6248382 T G F13A1 Pathogenic missense rs121913065 chr6 6266615 A A F13A1 Pathogenic stop-gained rs121912993 chr6 7565442 G G DSP Pathogenic missense rs121912991 chr6 7566428 A T DSP Pathogenic stop-gained rs121912994 chr6 7574786 G A DSP Pathogenic stop-gained rs146407262 chr6 7576336 C C DSP 0.0060/13 Benign synonymous-codon rs2064217 chr6 7577027 G T DSP 0.2612/569 Benign synonymous-codon rs28763964 chr6 7579700 A A DSP 0.0069/14 Benign synonymous-codon rs2076299 chr6 7580725 T G DSP 0.1827/397 Benign intron-variant,missense rs28763966 chr6 7580768 A A DSP 0.0432/94 Benign intron-variant,missense rs28931610 chr6 7584358 G T DSP Pathogenic missense rs387906618 chr6 7584359 C A DSP Pathogenic missense rs137853340 chr6 10529594 G A GCNT2 Pathogenic missense rs55940927 chr6 10626552 C A GCNT2 Pathogenic missense rs121917876 chr6 18122014 T T NHLRC1 Pathogenic missense rs1800460 chr6 18138997 T T TPMT 0.0170/37 Pathogenic missense rs111033557 chr6 26090939 T A HFE Benign intron-variant,missense,nc-transcript-variant rs28934597 chr6 26091041 G C HFE Pathogenic intron-variant,missense,nc-transcript-variant rs28934595 chr6 26091354 G C HFE Pathogenic intron-variant,missense,nc-transcript-variant rs387906655 chr6 29659628 T G MOG Pathogenic intron-variant,missense rs78378398 chr6 29673282 G T ZFP57 Pathogenic missense rs9461544 chr6 29673518 T C ZFP57 0.0193/41 Benign missense rs61730330 chr6 29673552 C A ZFP57 0.0280/60 Benign missense rs114591600 chr6 29673737 G T ZFP57 0.0078/17 Benign missense rs104893981 chr6 31860170 C A NEU1 Pathogenic missense rs6475 chr6 32039426 C A CYP21A2 Pathogenic missense,utr-variant-5-prime rs1800454 chr6 32832635 G T TAP2 0.1538/335 Benign missense rs387906680 chr6 32841671 C A PSMB8 Pathogenic missense rs397514741 chr6 33432724 G T SYNGAP1 Pathogenic stop-gained rs267607021 chr6 34425219 A T RPS10-NUDT3,RPS10 Pathogenic missense rs121909074 chr6 35500005 G G TULP1 Pathogenic missense rs121909075 chr6 35500100 T G,T TULP1 0.0005/1 Pathogenic missense rs387906837 chr6 35505751 G A TULP1 Pathogenic missense rs104893975 chr6 35806050 T G LHFPL5 Pathogenic missense rs142724470 chr6 35951201 G T SLC26A8 Pathogenic missense,stop-gained rs140210148 chr6 36012301 G T SLC26A8 Pathogenic missense rs28937876 chr6 41158991 T A TREM2 Pathogenic intron-variant,missense,synonymous-codon rs104893967 chr6 42178374 T G LOC102723882,GUCA1A Pathogenic missense,upstream-variant-2KB rs121909124 chr6 42185686 A T GUCA1B 0.0005/1 Pathogenic missense rs121918567 chr6 42704609 G A LOC101929618,PRPH2 0.0005/1 Pathogenic intron-variant,missense,nc-transcript-variant rs61755789 chr6 42721835 C T PRPH2 Pathogenic missense,nc-transcript-variant rs61755783 chr6 42721911 G A PRPH2 Pathogenic missense,nc-transcript-variant rs7764439 chr6 42722017 A G PRPH2 0.4252/926 Benign nc-transcript-variant,synonymous-codon rs61755771 chr6 42722199 G A PRPH2 Pathogenic nc-transcript-variant,stop-gained rs121918565 chr6 42722333 T G PRPH2 Pathogenic missense,nc-transcript-variant rs121907889 chr6 42963149 A A GNMT Pathogenic missense rs387907020 chr6 43521238 A T POLR1C Pathogenic intron-variant,stop-gained rs121908563 chr6 43587375 A T POLH Pathogenic stop-gained,upstream-variant-2KB rs121908562 chr6 43604646 A T POLH Pathogenic stop-gained rs121908564 chr6 43610596 A T POLH Pathogenic stop-gained rs121908565 chr6 43614181 A C POLH Pathogenic missense rs104893993 chr6 45437964 C G RUNX2 Pathogenic missense rs397515537 chr6 45546910 G T RUNX2 Pathogenic stop-gained rs104893994 chr6 45547304 A C RUNX2 Pathogenic intron-variant,stop-lost rs76863441 chr6 46709361 C A PLA2G7 0.0298/65 Pathogenic intron-variant,missense rs150642856 chr6 49444686 C A MUT 0.0018/4 Benign missense rs1141321 chr6 49444720 G G,T MUT 0.2622/570 Benign missense rs398123276 chr6 49447787 G C MUT Pathogenic splice-acceptor-variant rs121918250 chr6 49451668 C T MUT Pathogenic missense rs121918251 chr6 49459189 G T MUT 0.0005/1 Pathogenic missense rs398123278 chr6 49459376 T A MUT Pathogenic stop-gained rs121918589 chr6 49606921 C A RHAG Pathogenic missense rs16879498 chr6 49612534 C T RHAG 0.0514/111 Pathogenic missense rs121918586 chr6 49619284 T T RHAG Pathogenic missense rs121918588 chr6 49636810 A A RHAG Pathogenic missense rs80338915 chr6 50838007 A A TFAP2B Pathogenic missense rs145184792 chr6 51659541 A G PKHD1 0.0110/24 Benign missense rs137852950 chr6 51659714 C C PKHD1 Pathogenic missense rs398124475 chr6 51744510 A C PKHD1 Pathogenic stop-gained rs17752991 chr6 51748124 C A PKHD1 0.0060/13 Benign synonymous-codon rs765525 chr6 51748379 G T PKHD1 0.4082/889 Benign synonymous-codon rs137852945 chr6 51748563 A A PKHD1 Pathogenic missense rs142522748 chr6 51772738 T T PKHD1 0.0064/14 Benign missense rs7766366 chr6 51847961 T C PKHD1 0.0055/11 Benign missense rs9349603 chr6 51856040 A C PKHD1 0.4757/1036 Benign synonymous-codon rs1266923 chr6 51959882 T A PKHD1 0.0813/176 Benign synonymous-codon rs115338476 chr6 52010335 T A PKHD1 0.0073/16 Benign missense rs2435322 chr6 52010452 T C PKHD1 0.0321/70 Benign missense rs398124487 chr6 52024573 C T PKHD1 Pathogenic splice-donor-variant rs137852946 chr6 52024589 T T PKHD1 Pathogenic missense rs28937907 chr6 52024819 A A PKHD1 Pathogenic missense rs62406032 chr6 52046107 T C PKHD1 0.0579/125 Benign missense rs398124480 chr6 52046144 T A PKHD1 Pathogenic stop-gained rs1896976 chr6 52059976 T G PKHD1 0.0298/65 Benign synonymous-codon rs398124503 chr6 52062655 A A PKHD1 Pathogenic stop-gained rs9474143 chr6 52082439 T A PKHD1 0.3370/733 Benign synonymous-codon rs398124498 chr6 52083223 T A PKHD1 Pathogenic stop-gained rs73740379 chr6 52452743 T T EFHC1 0.0037/7 Benign missense,nc-transcript-variant rs1266787 chr6 52479101 G C EFHC1 0.0647/141 Benign missense,nc-transcript-variant rs17851770 chr6 52492273 T C EFHC1 0.0367/79 Benign missense,nc-transcript-variant rs118203918 chr6 53016099 G T ICK Pathogenic missense rs398122943 chr6 56620289 G A DST Pathogenic intron-variant,stop-gained rs201045495 chr6 56620664 A A DST Pathogenic intron-variant,stop-gained rs4710457 chr6 63984461 G T EYS 0.3485/759 Benign missense rs182322608 chr6 64590266 G G EYS Benign synonymous-codon rs62415825 chr6 64591274 T T EYS 0.0978/212 Benign synonymous-codon rs62415827 chr6 64591324 G A EYS 0.0978/212 Benign missense rs62415828 chr6 64591515 T G EYS 0.0987/214 Benign missense rs17403955 chr6 64591786 T C EYS 0.0996/217 Benign missense rs12663619 chr6 64591841 G A EYS 0.0978/212 Benign synonymous-codon rs12663622 chr6 64591894 G C EYS 0.0973/211 Benign missense rs12662610 chr6 64591931 G C EYS 0.0996/217 Benign synonymous-codon rs12663916 chr6 64591961 T A EYS 0.0978/212 Benign synonymous-codon rs9294631 chr6 64912570 G G EYS 0.3889/847 Benign missense rs398122419 chr6 73480777 C T MTO1 Pathogenic missense rs119491109 chr6 73638477 G C SLC17A5 Pathogenic missense rs472294 chr6 73644452 G T SLC17A5 0.1258/273 Benign synonymous-codon rs80338794 chr6 73644583 A A SLC17A5 0.0009/2 Pathogenic missense,utr-variant-5-prime rs61732664 chr6 75855180 A C MYO6 0.0142/30 Benign missense rs2273857 chr6 75855236 A G MYO6 0.0404/87 Benign synonymous-codon rs11756446 chr6 75866573 G T MYO6 0.0312/67 Benign synonymous-codon rs9443199 chr6 75908518 A T MYO6 0.0174/38 Benign synonymous-codon rs121912558 chr6 75914119 G T MYO6 Pathogenic stop-gained rs41269323 chr6 75914821 A A MYO6 0.0041/8 Benign missense rs104893946 chr6 79916743 T C ELOVL4 Pathogenic stop-gained rs387906916 chr6 79919443 T A ELOVL4 Pathogenic stop-gained rs398124573 chr6 80129228 G G BCKDHB Pathogenic stop-gained rs398124577 chr6 80168885 A T BCKDHB Pathogenic missense rs398124589 chr6 80169031 T A BCKDHB Pathogenic splice-donor-variant rs398124592 chr6 80200939 A T BCKDHB Pathogenic stop-gained rs398124593 chr6 80200943 C C BCKDHB Pathogenic missense rs398124598 chr6 80203114 G T BCKDHB Pathogenic stop-gained rs387906620 chr6 85487458 C A NT5E Pathogenic missense rs8802 chr6 87514446 T C RARS2 0.1400/305 Benign nc-transcript-variant,synonymous-codon rs3757370 chr6 87521508 A C RARS2 0.0427/92 Benign missense,nc-transcript-variant rs75794097 chr6 87541924 A A RARS2 0.0142/30 Benign nc-transcript-variant,synonymous-codon rs6684 chr6 96891202 C G NDUFAF4 0.4738/1031 Benign synonymous-codon rs398123062 chr6 98875423 C C FBXL4 Pathogenic missense,nc-transcript-variant rs34360565 chr6 101686341 G C GRIK2 0.0087/19 Benign synonymous-codon rs34747916 chr6 101818447 T G GRIK2 0.0395/86 Benign synonymous-codon rs3213607 chr6 102035481 G A GRIK2 0.0606/132 Benign synonymous-codon rs2235076 chr6 102068385 T A GRIK2 0.0110/24 Benign missense,utr-variant-3-prime rs118203955 chr6 107210483 A A PDSS2 Pathogenic stop-gained rs148915050 chr6 107506325 C G SOBP 0.0083/17 Benign missense rs119103233 chr6 107929466 A T SEC63 Pathogenic stop-gained rs387907105 chr6 109475465 T C ZBTB24 Pathogenic missense rs121908287 chr6 109715133 T C FIG4 0.0009/2 Pathogenic missense,utr-variant-5-prime rs121908290 chr6 109715168 A T FIG4 Pathogenic missense,utr-variant-5-prime rs397514707 chr6 109735176 T C FIG4 Pathogenic missense rs397518485 chr6 111559523 T A TRAF3IP2,TRAF3IP2-AS1 Pathogenic intron-variant,missense,nc-transcript-variant rs121908900 chr6 112069548 A A WISP3 Pathogenic stop-gained,utr-variant-3-prime rs121908903 chr6 112069555 C C WISP3 Pathogenic missense,utr-variant-3-prime rs1050353 chr6 112114709 A T LAMA4 0.2920/635 Benign synonymous-codon rs35679345 chr6 112119261 A C,T LAMA4 0.0459/100 Benign synonymous-codon rs12110554 chr6 112120302 T C LAMA4 0.0165/35 Benign missense rs77367833 chr6 112122175 G G LAMA4 0.0037/7 Benign synonymous-codon rs41289902 chr6 112139163 G T LAMA4 0.0060/13 Benign missense rs372615994 chr6 112139164 A A LAMA4 Pathogenic missense,synonymous-codon rs2072021 chr6 112191703 G A LAMA4 0.2755/599 Benign synonymous-codon rs111033552 chr6 116120105 G G COL10A1,NT5DC1 Pathogenic intron-variant,missense rs111033548 chr6 116120220 T T COL10A1,NT5DC1 Pathogenic intron-variant,stop-gained,synonymous-codon rs111033543 chr6 116120232 T C COL10A1,NT5DC1 Pathogenic intron-variant,stop-gained rs111033545 chr6 116120275 G G COL10A1,NT5DC1 Pathogenic intron-variant,missense rs111033556 chr6 116120284 A T COL10A1,NT5DC1 Pathogenic intron-variant,missense,stop-gained rs111033546 chr6 116120345 A G COL10A1,NT5DC1 Pathogenic intron-variant,missense rs398122361 chr6 116431086 A T DSE Pathogenic missense rs118204041 chr6 116617083 A T RSPH4A Pathogenic stop-gained rs118204043 chr6 116628175 G T RSPH4A Pathogenic stop-gained rs267607013 chr6 116882404 G A RFX6 Pathogenic missense rs77146142 chr6 116920454 G T RFX6 0.0110/24 Benign missense rs4946206 chr6 116925556 G T RFX6 0.2989/650 Benign synonymous-codon rs611349 chr6 116927055 C C RFX6 0.2984/650 Benign synonymous-codon rs111033559 chr6 118558946 G T CEP85L,PLN Pathogenic intron-variant,missense rs387906616 chr6 121446878 T T GJA1 Pathogenic missense rs121912969 chr6 121446879 T C GJA1 Pathogenic missense rs104893961 chr6 121446897 C C GJA1 Pathogenic missense rs28931601 chr6 121447133 T A GJA1 Pathogenic missense rs1140366 chr6 129049961 A T LAMA2 0.0996/217 Benign synonymous-codon rs4404787 chr6 129059881 C A LAMA2 0.0372/81 Benign synonymous-codon rs2306220 chr6 129190228 A C LAMA2 0.0514/111 Benign synonymous-codon rs9492266 chr6 129190270 T C LAMA2 0.0179/38 Benign synonymous-codon rs121913574 chr6 129190317 T A LAMA2 Pathogenic missense rs36044314 chr6 129250127 G A LAMA2 0.0073/16 Benign missense rs3816665 chr6 129250185 T A LAMA2 0.2218/482 Benign missense rs35879899 chr6 129252129 A G LAMA2 0.0115/24 Benign missense rs9492297 chr6 129291613 C A LAMA2 Pathogenic splice-acceptor-variant rs1027199 chr6 129291663 A G LAMA2 0.3287/716 Benign synonymous-codon rs121913577 chr6 129297729 A A LAMA2 Pathogenic stop-gained rs2306942 chr6 129314655 T A LAMA2 0.1056/229 Benign missense rs121913569 chr6 129315638 A T LAMA2 Pathogenic stop-gained rs398123373 chr6 129316089 G T LAMA2 Pathogenic stop-gained rs398123375 chr6 129349385 T A LAMA2 Pathogenic splice-donor-variant rs201632009 chr6 129383212 A A,T LAMA2 Pathogenic stop-gained rs56173620 chr6 129401308 G A LAMA2 0.0064/14 Benign missense rs139586720 chr6 129402394 C T LAMA2 0.0018/4 Benign missense rs114766691 chr6 129440880 G C LAMA2 0.0018/4 Benign synonymous-codon rs73775407 chr6 129440897 A A LAMA2 0.0294/64 Benign missense rs121913576 chr6 129464444 G T LAMA2 Pathogenic stop-gained rs34367843 chr6 129473344 A T LAMA2 0.0078/17 Benign missense rs2229850 chr6 129486569 A A,T LAMA2 0.3838/835 Benign synonymous-codon rs202247792 chr6 129486605 G G LAMA2 Pathogenic missense rs2244008 chr6 129491908 C G LAMA2 0.1006/219 Benign missense rs2228599 chr6 129505343 A G LAMA2 0.0156/34 Benign synonymous-codon rs121913571 chr6 129516231 G T LAMA2 Pathogenic stop-gained rs28941474 chr6 131573314 T C ARG1 Pathogenic missense rs104893943 chr6 131581326 A T ARG1,MED23 Pathogenic intron-variant,missense rs104893948 chr6 131583392 G A,C ARG1,MED23 Pathogenic intron-variant,missense rs104893942 chr6 131583808 T G ARG1,MED23 Pathogenic intron-variant,missense rs104893940 chr6 131583810 G T ARG1,MED23 Pathogenic intron-variant,stop-gained rs374270497 chr6 131860504 C A ENPP1 Pathogenic missense,upstream-variant-2KB rs121918024 chr6 131877005 A C ENPP1 Pathogenic missense rs121918023 chr6 131890410 A T ENPP1 Pathogenic stop-gained rs35562371 chr6 133446649 T T EYA4 0.0023/4 Benign synonymous-codon rs35863035 chr6 133446657 C C EYA4 0.0018/4 Benign synonymous-codon rs6940875 chr6 135394832 G G AHI1 0.0152/32 Benign missense,nc-transcript-variant rs41287054 chr6 135394870 G C AHI1 0.0133/29 Benign nc-transcript-variant,synonymous-codon rs35851478 chr6 135404967 G T AHI1 0.0064/14 Benign missense,nc-transcript-variant rs121434351 chr6 135433125 G T AHI1 Pathogenic missense,nc-transcript-variant rs267606641 chr6 135447022 T A AHI1 Pathogenic nc-transcript-variant,stop-gained rs35433555 chr6 135447144 G T AHI1 0.0092/20 Benign missense,nc-transcript-variant rs121434350 chr6 135455750 C T AHI1 Pathogenic missense,nc-transcript-variant rs121434349 chr6 135455775 A A,T AHI1 Pathogenic nc-transcript-variant,stop-gained rs397514726 chr6 135457593 G A AHI1 Pathogenic missense,nc-transcript-variant rs121434348 chr6 135457594 G A AHI1 Pathogenic nc-transcript-variant,stop-gained rs201391050 chr6 135457660 G A AHI1 Pathogenic missense,nc-transcript-variant,synonymous-codon rs73777558 chr6 135490686 C G AHI1 0.0009/2 Benign nc-transcript-variant,synonymous-codon rs121909153 chr6 136869950 G T PEX7 Pathogenic intron-variant,stop-gained rs62653611 chr6 136898192 T G PEX7 Pathogenic missense rs1805137 chr6 136898213 A A PEX7 Pathogenic stop-gained,stop-lost rs35230590 chr6 145686196 C T EPM2A 0.1410/306 Benign synonymous-codon,utr-variant-5-prime rs137852915 chr6 145686276 G A EPM2A Pathogenic missense,utr-variant-5-prime rs267607101 chr6 149378537 C T TAB2 Pathogenic missense rs267607100 chr6 149378603 A A TAB2 Pathogenic missense rs121918138 chr6 150389474 G T IYD Pathogenic missense,nc-transcript-variant rs121918139 chr6 150389520 T C IYD Pathogenic missense,nc-transcript-variant rs397515421 chr6 151405787 G T RMND1 Pathogenic missense rs104893956 chr6 151842613 G T ESR1 Pathogenic stop-gained,utr-variant-5-prime rs17082236 chr6 152149617 A A SYNE1 0.1001/218 Benign missense rs910415 chr6 152152046 G C SYNE1 0.0413/89 Benign synonymous-codon rs119103244 chr6 152201838 T A SYNE1 Pathogenic stop-gained rs34630198 chr6 152207987 A A SYNE1 0.0064/14 Benign synonymous-codon rs35763277 chr6 152211567 G C SYNE1 0.0078/17 Benign missense rs36044575 chr6 152213654 G C SYNE1 0.0234/51 Benign synonymous-codon rs61746395 chr6 152239611 T G SYNE1 0.0110/24 Benign synonymous-codon rs17082422 chr6 152301992 G T SYNE1 0.0115/24 Benign synonymous-codon rs2306916 chr6 152326546 T T SYNE1 0.1662/362 Benign missense rs3734365 chr6 152330624 A G SYNE1 0.1648/358 Benign synonymous-codon rs6911096 chr6 152330899 A T SYNE1 0.1772/386 Benign missense rs10499268 chr6 152331464 T A SYNE1 0.0308/67 Benign synonymous-codon rs2130262 chr6 152334195 C T SYNE1 0.0317/68 Benign missense rs71575926 chr6 152339316 A A SYNE1 0.0950/206 Benign synonymous-codon rs13210127 chr6 152350730 T G SYNE1 0.0597/130 Benign missense rs145911138 chr6 152358383 G T SYNE1 0.0078/17 Benign missense rs116758271 chr6 152362262 G T SYNE1 0.0096/20 Benign missense rs4407724 chr6 152362278 C T SYNE1 0.3081/671 Benign synonymous-codon rs214976 chr6 152451129 C G SYNE1 0.4141/901 Benign missense rs34610829 chr6 152458798 C A SYNE1 0.0129/27 Benign missense rs61745451 chr6 157184344 T A ARID1B 0.0092/20 Benign synonymous-codon rs387907140 chr6 157196221 A T ARID1B Pathogenic stop-gained rs121434365 chr6 158192003 G C GTF2H5 Pathogenic missense rs121434364 chr6 158192107 G T GTF2H5 Pathogenic stop-gained rs73015965 chr6 160706469 A G PLG 0.0028/5 Pathogenic missense rs121918032 chr6 160731229 A T PLG Pathogenic stop-gained rs56092260 chr6 161386865 G A PARK2 0.0018/4 Benign missense rs34424986 chr6 161785820 A A PARK2 0.0005/1 Pathogenic missense rs137853054 chr6 161973317 T A,C PARK2 Pathogenic missense rs55774500 chr6 162262692 C T PARK2 0.0014/2 Pathogenic intron-variant,missense rs267606795 chr7 255869 G C FAM20C Pathogenic missense,nc-transcript-variant rs397514686 chr7 2915243 C A CARD11 Pathogenic stop-gained rs387907351 chr7 2944495 C C LOC101927256,CARD11 Pathogenic missense,nc-transcript-variant rs387907369 chr7 5715095 C T RNF216 Pathogenic nc-transcript-variant,stop-gained rs1802683 chr7 5973418 C G PMS2 0.1731/377 Benign missense,nc-transcript-variant rs10000 chr7 5973522 A G PMS2 0.0946/206 Benign nc-transcript-variant,synonymous-codon rs267608172 chr7 5982823 G T PMS2 Pathogenic splice-donor-variant rs267608161 chr7 5982885 G T PMS2 Pathogenic missense,nc-transcript-variant rs201451115 chr7 5986826 C A PMS2 Pathogenic nc-transcript-variant,stop-gained rs143277125 chr7 5992012 G A,T PMS2 Pathogenic missense,nc-transcript-variant rs1805319 chr7 5997349 G C,T PMS2 0.1570/342 Benign nc-transcript-variant,synonymous-codon rs63750871 chr7 6002590 A A PMS2 Pathogenic nc-transcript-variant,stop-gained rs12532895 chr7 6003755 G A PMS2 0.1129/246 Benign nc-transcript-variant,synonymous-codon rs10254120 chr7 6005996 G T PMS2 0.0702/152 Benign missense,nc-transcript-variant rs387907161 chr7 16301424 A A ISPD Pathogenic stop-gained rs397515397 chr7 16308521 C C ISPD Pathogenic splice-donor-variant rs397515409 chr7 16308599 T A ISPD Pathogenic missense rs397514547 chr7 16406129 A T ISPD Pathogenic missense rs10950854 chr7 21559615 G T DNAH11 0.4688/1021 Benign synonymous-codon rs56029521 chr7 21620027 C C DNAH11 0.4504/980 Benign synonymous-codon rs368260932 chr7 21749702 G T DNAH11 Pathogenic stop-gained rs121908855 chr7 21880869 A G DNAH11 Pathogenic stop-gained rs72549407 chr7 22978444 G G FAM126A Pathogenic missense,upstream-variant-2KB rs137853112 chr7 23140775 T A KLHL7 Pathogenic missense,nc-transcript-variant rs137853114 chr7 23140783 C A KLHL7 Pathogenic missense,nc-transcript-variant rs137853113 chr7 23140784 G T KLHL7 Pathogenic missense,nc-transcript-variant rs754555 chr7 24719134 G T DFNA5 0.2415/526 Benign synonymous-codon,utr-variant-5-prime rs754554 chr7 24719199 G T DFNA5 0.2420/526 Benign missense,utr-variant-5-prime rs398123011 chr7 26364575 A A SNX10 Pathogenic intron-variant,missense,nc-transcript-variant rs119489104 chr7 27101301 T T HOXA2 Pathogenic missense rs121912542 chr7 27198251 C G HOXA13 Pathogenic missense rs104894019 chr7 27198258 C T HOXA13 Pathogenic missense,stop-gained rs137852643 chr7 30609729 G C GARS Pathogenic missense rs137852648 chr7 30612107 A T GARS Pathogenic missense rs104894029 chr7 33015741 T G NT5C3A Pathogenic missense rs104894027 chr7 33017487 T C NT5C3A Pathogenic stop-gained,synonymous-codon rs104894026 chr7 33017501 A A NT5C3A Pathogenic missense,stop-gained rs104894025 chr7 33021317 C A NT5C3A Pathogenic missense rs104894039 chr7 33095391 C C LOC101928355,RP9 Pathogenic downstream-variant-500B,missense rs137852857 chr7 33177570 G A BBS9 Pathogenic missense rs137852858 chr7 33336487 A T BBS9 Pathogenic stop-gained rs137853117 chr7 40133169 T C MPLKIP,SUGCT Pathogenic missense,upstream-variant-2KB rs137852861 chr7 40237664 G T SUGCT Pathogenic stop-gained rs116840758 chr7 41967595 C T GLI3 Pathogenic splice-donor-variant rs193922335 chr7 44146611 C A GCK Pathogenic stop-gained rs144723656 chr7 44149794 T A,C GCK 0.0073/16 Pathogenic stop-gained rs104894015 chr7 44149798 A C GCK Pathogenic missense rs52815063 chr7 44516100 T T NPC1L1 0.0060/13 drug-response missense rs137853208 chr7 50504025 A A DDC Pathogenic missense rs137853210 chr7 50529339 T G DDC Pathogenic intron-variant,missense rs483352808 chr7 55191720 C A EGFR drug-response missense rs104894035 chr7 56021119 G T PSPH Pathogenic missense rs121918184 chr7 65960972 C A GUSB Pathogenic missense,nc-transcript-variant rs121918179 chr7 65967863 C T GUSB Pathogenic nc-transcript-variant,stop-gained rs387907263 chr7 66638260 T A KCTD7 Pathogenic missense rs387907261 chr7 66639180 C T KCTD7 Pathogenic missense rs113993996 chr7 66991256 T A SBDS Pathogenic missense rs113993995 chr7 66993299 T G SBDS Pathogenic missense rs113993993 chr7 66994210 C G SBDS Pathogenic splice-donor-variant rs113993992 chr7 66994211 C G SBDS Pathogenic splice-donor-variant rs72552771 chr7 75981072 A G POR Pathogenic missense rs7812015 chr7 78127407 G T MAGI2 0.2163/470 Benign synonymous-codon rs76346657 chr7 78178085 T G MAGI2 0.0064/14 Benign synonymous-codon rs111635934 chr7 78501642 T C MAGI2 0.0064/14 Benign synonymous-codon rs34088845 chr7 78627127 G C,T MAGI2 0.0115/24 Benign synonymous-codon rs75326924 chr7 80656687 C T CD36 0.0032/7 Pathogenic missense,nc-transcript-variant rs148714837 chr7 81729637 T T HGF 0.0014/2 Benign synonymous-codon rs5745687 chr7 81729735 A T HGF 0.0326/70 Benign missense rs72552778 chr7 87447080 A A ABCB4 Pathogenic missense rs58238559 chr7 87452957 A C ABCB4 0.0060/13 Pathogenic missense rs121908566 chr7 92040690 A T AKAP9 Pathogenic missense rs267607203 chr7 92222870 A A KRIT1 Pathogenic stop-gained rs137853139 chr7 92236488 C C KRIT1 Pathogenic missense rs387907188 chr7 92448806 C C GATAD1 Pathogenic missense,nc-transcript-variant rs34768413 chr7 92456449 G T GATAD1 0.0101/21 Benign missense,nc-transcript-variant rs111704518 chr7 92494512 T T PEX1 0.0055/11 Benign nc-transcript-variant,synonymous-codon rs61750420 chr7 92501562 C T PEX1 Pathogenic missense,nc-transcript-variant rs10278857 chr7 92501975 C T PEX1 0.0680/147 Benign nc-transcript-variant,synonymous-codon rs72658152 chr7 94418508 G A COL1A2 Pathogenic missense rs72659343 chr7 94428367 A T COL1A2 Pathogenic stop-gained rs7493 chr7 95405463 A C PON2 0.2567/558 Benign missense rs80338729 chr7 96121683 C A SLC25A13 Pathogenic nc-transcript-variant,stop-gained rs80338727 chr7 96121695 G A,T SLC25A13 Pathogenic missense,nc-transcript-variant,stop-gained rs80338722 chr7 96184276 C T SLC25A13 0.0014/2 Pathogenic splice-donor-variant rs80338721 chr7 96184376 T A SLC25A13 Pathogenic nc-transcript-variant,stop-gained rs80338717 chr7 96193032 T T SLC25A13 0.0005/1 Pathogenic intron-variant,upstream-variant-2KB rs80338718 chr7 96193036 A G SLC25A13 Pathogenic splice-donor-variant,upstream-variant-2KB rs387906737 chr7 97022192 G G DLX5 Pathogenic missense rs398122973 chr7 97855406 G C ASNS Pathogenic missense rs2740574 chr7 99784473 T T CYP3A4 0.2011/438 Pathogenic upstream-variant-2KB rs387906838 chr7 100104125 A A AP4M1 Pathogenic missense,utr-variant-5-prime rs142849754 chr7 103377772 A C SLC26A5 0.0014/2 Benign intron-variant,missense rs431905517 chr7 103413015 C G SLC26A5 Pathogenic intron-variant,missense rs431905518 chr7 103420821 A T SLC26A5 Pathogenic stop-gained,utr-variant-5-prime rs2229862 chr7 103500904 A A,C LOC101927870,RELN 0.0294/64 Benign intron-variant,missense,synonymous-codon rs3808039 chr7 103510989 A C LOC101927870,RELN 0.0758/165 Benign intron-variant,synonymous-codon rs56345626 chr7 103515417 G G RELN 0.1919/417 Benign synonymous-codon rs114019779 chr7 103551285 C A RELN 0.0046/10 Benign synonymous-codon rs77664442 chr7 103553798 A C RELN 0.0216/46 Benign missense rs2711866 chr7 103556999 C C RELN 0.0064/14 Benign synonymous-codon rs79499902 chr7 103561880 A T RELN 0.0110/24 Benign missense rs2229860 chr7 103565380 G C RELN 0.0009/2 Benign missense rs41276154 chr7 103652718 T T RELN 0.0280/60 Benign synonymous-codon rs73712207 chr7 103661440 C T RELN 0.0018/4 Benign synonymous-codon rs2269970 chr7 107362361 T G COG5 0.3292/716 Benign missense rs60284988 chr7 107660756 G C SLC26A4-AS1,SLC26A4 Pathogenic intron-variant,upstream-variant-2KB,utr-variant-5-prime rs111033303 chr7 107674970 A T SLC26A4 Pathogenic missense rs80338848 chr7 107675051 A C SLC26A4 Pathogenic missense rs111033256 chr7 107675060 C A SLC26A4 Pathogenic missense rs111033304 chr7 107683334 T C SLC26A4 0.0046/10 Benign missense rs111033244 chr7 107690125 A G SLC26A4 Pathogenic missense,upstream-variant-2KB rs111033307 chr7 107694473 G G SLC26A4 Pathogenic missense rs397516416 chr7 107694475 A T SLC26A4 Pathogenic stop-gained rs397516418 chr7 107694718 A G SLC26A4 Pathogenic splice-donor-variant rs121908366 chr7 107696035 A A SLC26A4 Pathogenic missense rs121908360 chr7 107702023 C G SLC26A4 Pathogenic missense rs111033309 chr7 107702038 A A SLC26A4 Pathogenic missense rs17154347 chr7 107710094 G T SLC26A4 0.0152/32 Benign synonymous-codon rs143708308 chr7 107710103 A G SLC26A4 0.0032/7 Benign missense rs397516428 chr7 107710152 A T SLC26A4 Pathogenic stop-gained rs121913033 chr7 107779689 C T SLC26A3 Pathogenic stop-gained rs121913032 chr7 107791059 A A SLC26A3 Pathogenic stop-gained rs397514651 chr7 107901759 A C DLD Pathogenic intron-variant,missense rs121964993 chr7 107917307 T G DLD Pathogenic missense rs121964992 chr7 107917349 A A DLD Pathogenic missense rs121964991 chr7 107917404 T C DLD Pathogenic missense rs397514649 chr7 107919071 T T DLD Pathogenic missense rs397514650 chr7 107919079 G G DLD Pathogenic missense rs121964988 chr7 107919098 G T DLD Pathogenic missense rs387907344 chr7 107961205 A A LAMB1 Pathogenic splice-donor-variant rs121908378 chr7 114642616 G T FOXP2 Pathogenic nc-transcript-variant,stop-gained rs121908377 chr7 114662075 T A FOXP2 Pathogenic missense,nc-transcript-variant rs150588908 chr7 116699474 A T MET 0.0046/10 Benign intron-variant,synonymous-codon rs35284565 chr7 116699738 C A MET 0.0009/2 Benign intron-variant,synonymous-codon rs33917957 chr7 116700208 C G MET 0.0211/46 Benign intron-variant,missense rs13223756 chr7 116757518 T G MET 0.1873/408 Benign synonymous-codon rs121913243 chr7 116777410 T G MET Pathogenic missense rs121913669 chr7 116782027 T T MET Pathogenic missense rs121913671 chr7 116783353 A A MET Pathogenic missense rs41736 chr7 116795714 G T MET 0.3719/810 Benign synonymous-codon rs2023748 chr7 116795968 A A MET 0.3733/812 Benign synonymous-codon rs41737 chr7 116796043 T A MET 0.3756/818 Benign synonymous-codon rs397508168 chr7 117504314 A T CFTR Pathogenic stop-gained rs121909025 chr7 117509040 G A CFTR Pathogenic stop-gained rs77284892 chr7 117509047 A A,T CFTR Pathogenic missense,stop-gained rs397508461 chr7 117530917 A T CFTR Pathogenic stop-gained rs121909031 chr7 117530951 T G CFTR Pathogenic missense rs113993958 chr7 117530953 A C,T CFTR Pathogenic missense rs77834169 chr7 117530974 G G,T CFTR Pathogenic missense rs78655421 chr7 117530975 C A,C,T CFTR Pathogenic missense rs121908802 chr7 117535263 A T CFTR Pathogenic missense rs121909016 chr7 117540163 T G CFTR Pathogenic missense rs79031340 chr7 117540218 G A,C CFTR Pathogenic missense rs397508144 chr7 117540251 C C CFTR Pathogenic missense rs76879328 chr7 117540305 A G,T CFTR Pathogenic missense,stop-gained rs75053309 chr7 117540309 A A,G,T CFTR Pathogenic missense rs397508174 chr7 117542101 G A CFTR Pathogenic stop-gained rs397508175 chr7 117542102 G A CFTR Pathogenic stop-gained rs213950 chr7 117559479 T A CFTR 0.4605/1002 Benign missense rs397508211 chr7 117559537 A A CFTR Pathogenic stop-gained rs77646904 chr7 117559629 T A,C,T CFTR 0.0009/2 Pathogenic missense rs121908754 chr7 117559643 C A CFTR Pathogenic stop-gained rs1800094 chr7 117559652 G G CFTR 0.0055/11 Benign synonymous-codon rs387906368 chr7 117587755 A A CFTR Pathogenic missense rs113993959 chr7 117587778 G T CFTR Pathogenic stop-gained rs121909005 chr7 117587801 G G CFTR Pathogenic missense rs121909013 chr7 117587805 G A CFTR Pathogenic missense rs75527207 chr7 117587806 T A CFTR Pathogenic missense rs76554633 chr7 117587808 A T CFTR Pathogenic stop-gained rs74597325 chr7 117587811 G G,T CFTR 0.0005/1 Pathogenic missense,stop-gained rs121909044 chr7 117587812 A A CFTR Pathogenic missense rs75789129 chr7 117587820 T G CFTR 0.0147/32 Pathogenic missense rs121909033 chr7 117592110 T T CFTR Pathogenic missense rs397508350 chr7 117592362 A G CFTR Pathogenic stop-gained rs397508378 chr7 117592631 A A,T CFTR Pathogenic missense,stop-gained rs141158996 chr7 117592658 T A CFTR Pathogenic splice-donor-variant rs397508393 chr7 117594976 G A CFTR Pathogenic stop-gained rs267606722 chr7 117594977 A A CFTR Pathogenic stop-gained rs121909012 chr7 117594990 G T CFTR Pathogenic stop-gained rs1042077 chr7 117595001 G G CFTR 0.4399/957 Benign synonymous-codon rs79633941 chr7 117603542 A T CFTR Pathogenic stop-gained rs397508435 chr7 117603654 T C CFTR Pathogenic missense rs139304906 chr7 117611671 G C CFTR Pathogenic missense rs79635528 chr7 117611695 T G CFTR Pathogenic missense rs78802634 chr7 117611707 G A CFTR Pathogenic stop-gained rs121908761 chr7 117611717 C A,G CFTR Pathogenic stop-gained rs36210737 chr7 117611743 G A,G CFTR Pathogenic missense rs75541969 chr7 117614699 A C CFTR Pathogenic missense rs79850223 chr7 117627525 G A,G,T CFTR Pathogenic missense,synonymous-codon rs74767530 chr7 117627537 G A,G CFTR Pathogenic missense,synonymous-codon rs75389940 chr7 117627753 T C,G,T CFTR Pathogenic missense rs121908766 chr7 117627765 A T CFTR Pathogenic stop-gained rs121909040 chr7 117642466 G A CFTR Pathogenic missense rs74503330 chr7 117642472 T A CFTR Pathogenic missense rs11971167 chr7 117642528 A A,T CFTR 0.0037/7 Pathogenic missense rs77010898 chr7 117642566 A A CFTR Pathogenic stop-gained rs77902683 chr7 117642568 G A,C,T CFTR Pathogenic missense rs121909028 chr7 117642577 T C CFTR Pathogenic missense rs1800130 chr7 117642590 C G CFTR 0.0647/141 Benign synonymous-codon rs121909026 chr7 117652905 A A,T CFTR Pathogenic missense,stop-gained rs121909010 chr7 117652915 G A CFTR Pathogenic stop-gained rs1800135 chr7 117666937 G T CFTR 0.0055/11 Benign synonymous-codon rs374705585 chr7 117667091 A T CFTR Pathogenic stop-gained rs200519776 chr7 120788776 G G TSPAN12 0.0005/1 Pathogenic missense rs267607154 chr7 120788801 C G TSPAN12 Pathogenic missense rs267607151 chr7 120806599 T G TSPAN12 Pathogenic missense rs267607153 chr7 120810512 A T TSPAN12 Pathogenic stop-gained rs121912554 chr7 128400120 T C IMPDH1 Pathogenic missense rs104894032 chr7 128774545 G G OPN1SW Pathogenic missense rs387906586 chr7 128837450 G C FLNC Pathogenic missense rs28379666 chr7 128858463 A T FLNC 0.0142/30 Benign synonymous-codon rs121918348 chr7 129210997 G A SMO Pathogenic missense rs140259402 chr7 130402686 G T CEP41 Pathogenic missense,nc-transcript-variant rs267606649 chr7 138097885 T G AKR1D1 Pathogenic missense rs121918342 chr7 138106621 G T AKR1D1 Pathogenic missense rs121908368 chr7 138739541 G A ATP6V0A4 Pathogenic missense rs121908369 chr7 138739606 T T ATP6V0A4 Pathogenic stop-gained rs397507485 chr7 140739927 G T BRAF Pathogenic missense,nc-transcript-variant rs180177042 chr7 140749365 T T BRAF Pathogenic missense,nc-transcript-variant rs397507484 chr7 140753333 T A,G BRAF Pathogenic missense,nc-transcript-variant rs121913364 chr7 140753334 C C,G BRAF Pathogenic missense,nc-transcript-variant rs113488022 chr7 140753336 C C,G,T BRAF Pathogenic missense,nc-transcript-variant rs180177040 chr7 140754187 A C,G BRAF Pathogenic missense,nc-transcript-variant rs397507481 chr7 140754206 T C BRAF Pathogenic missense,nc-transcript-variant rs121913376 chr7 140781597 T A,T BRAF Pathogenic missense,nc-transcript-variant rs121913355 chr7 140781602 C A,G,T BRAF Pathogenic missense,nc-transcript-variant rs397507473 chr7 140781605 A G BRAF Pathogenic missense,nc-transcript-variant rs121913348 chr7 140781617 C A,G,T BRAF Pathogenic missense,nc-transcript-variant rs56216404 chr7 140781625 T C BRAF 0.0064/14 Benign nc-transcript-variant,synonymous-codon rs397507470 chr7 140801488 A T BRAF Pathogenic missense,nc-transcript-variant rs387907024 chr7 141615564 A T AGK Pathogenic stop-gained rs387907025 chr7 141641362 G T AGK Pathogenic stop-gained rs1726866 chr7 141972905 C A TAS2R38,MGAM 0.4082/889 drug-response intron-variant,missense rs387906698 chr7 142751919 G T PRSS1 Pathogenic missense rs8176058 chr7 142957921 T A,C KEL 0.0174/38 Benign missense rs80356690 chr7 143330788 G G CLCN1 Pathogenic missense,nc-transcript-variant rs121912805 chr7 143330789 A A CLCN1 Pathogenic missense,nc-transcript-variant rs121912799 chr7 143332490 C G CLCN1 Pathogenic missense,nc-transcript-variant rs121912801 chr7 143339527 C T CLCN1 Pathogenic missense,nc-transcript-variant rs121912807 chr7 143339534 G A CLCN1 Pathogenic missense,nc-transcript-variant rs80356696 chr7 143342001 G G CLCN1 Pathogenic missense,nc-transcript-variant rs80356697 chr7 143342013 C A CLCN1 Pathogenic missense,nc-transcript-variant rs55960271 chr7 143351678 G T CLCN1 0.0032/7 Pathogenic nc-transcript-variant,stop-gained rs371271054 chr7 144453621 T C TPK1 Pathogenic missense rs61732853 chr7 146839820 T T CNTNAP2 0.0216/46 Benign synonymous-codon rs34456867 chr7 147132408 G A,G CNTNAP2 0.0078/17 Benign missense rs79039458 chr7 147132469 A T CNTNAP2 0.0060/13 Benign synonymous-codon rs34592169 chr7 147395769 A A CNTNAP2 0.1111/241 Benign synonymous-codon rs10240503 chr7 147977886 T G CNTNAP2 0.2406/524 Benign synonymous-codon rs397515548 chr7 148807669 G T EZH2 Pathogenic missense rs199473031 chr7 150946885 C C KCNH2 Benign missense rs121912513 chr7 150948866 T A,G KCNH2 Pathogenic missense rs199472972 chr7 150951463 G A,G KCNH2 Pathogenic missense rs199472965 chr7 150951488 T C KCNH2 Pathogenic missense rs199472964 chr7 150951489 T A KCNH2 Pathogenic missense rs199472963 chr7 150951490 G C KCNH2 Pathogenic missense rs199472962 chr7 150951492 T A KCNH2 Pathogenic missense rs199472945 chr7 150951550 C A,C KCNH2 Pathogenic missense rs199472944 chr7 150951552 C A KCNH2 Pathogenic missense rs199473524 chr7 150951555 T A KCNH2 Pathogenic missense rs199472943 chr7 150951559 A A KCNH2 Pathogenic missense rs199472940 chr7 150951567 C C KCNH2 Pathogenic missense rs199472941 chr7 150951568 C A,G,T KCNH2 Pathogenic missense rs199472933 chr7 150951606 G A,C,T KCNH2 Pathogenic missense rs199473521 chr7 150951608 T A KCNH2 Pathogenic missense rs199472932 chr7 150951610 G C KCNH2 Pathogenic missense rs199472905 chr7 150952564 T T KCNH2 Pathogenic missense rs199473512 chr7 150952565 G G KCNH2 Pathogenic missense rs199473511 chr7 150952586 C A KCNH2 Pathogenic missense rs199472904 chr7 150952595 C G KCNH2 Pathogenic missense rs199472903 chr7 150952604 C A KCNH2 Pathogenic missense rs199472890 chr7 150957320 T A KCNH2 Benign missense,upstream-variant-2KB rs199472863 chr7 150959656 G T KCNH2 Pathogenic missense rs199473499 chr7 150959670 A C KCNH2 Pathogenic missense rs199472862 chr7 150959673 T C,G KCNH2 Pathogenic missense rs199472855 chr7 150974719 G T KCNH2 Pathogenic missense rs121912515 chr7 150974720 G A,C KCNH2 Pathogenic missense rs199472854 chr7 150974722 A G KCNH2 Pathogenic missense rs199472831 chr7 150974932 A G KCNH2 Pathogenic missense rs267606979 chr7 151560560 C G PRKAG2 Pathogenic missense rs28763998 chr7 151560579 A G PRKAG2 0.0372/81 Benign synonymous-codon rs116541276 chr7 151570179 G C PRKAG2 0.0018/4 Benign synonymous-codon rs104894045 chr7 155806545 G A SHH Pathogenic stop-gained rs387907150 chr7 157367402 T A DNAJB6 Pathogenic missense rs387907046 chr7 157367414 T C DNAJB6 Pathogenic missense rs149278319 chr7 157367416 C T DNAJB6 0.0018/4 Pathogenic synonymous-codon rs387907047 chr7 157367424 A G DNAJB6 Pathogenic missense rs104894060 chr8 1780316 G T CLN8 Pathogenic downstream-variant-500B,missense rs55758736 chr8 11548067 C A BLK 0.0101/21 Pathogenic missense,utr-variant-5-prime rs7836533 chr8 11550225 G T BLK 0.0170/37 Benign synonymous-codon rs146017816 chr8 11758471 G G,T GATA4 Pathogenic missense rs17121892 chr8 15743587 A A TUSC3 0.0202/43 Benign synonymous-codon rs72552387 chr8 16168568 T G,T MSR1 0.0069/14 Pathogenic missense rs137853596 chr8 18059424 T C ASAH1 Pathogenic missense rs137853593 chr8 18061724 T T ASAH1 Pathogenic missense rs145873635 chr8 18075541 T A ASAH1 Pathogenic missense rs1799930 chr8 18400593 A A NAT2 0.2456/534 drug-response missense rs1799931 chr8 18400860 A A NAT2 0.0712/154 drug-response missense rs118204065 chr8 19951783 G A LPL Pathogenic stop-gained rs118204063 chr8 19953386 A A LPL Pathogenic missense rs118204061 chr8 19954240 T C LPL Pathogenic missense rs118204075 chr8 19954243 A A LPL Pathogenic missense rs118204067 chr8 19954271 A G LPL Pathogenic missense rs118204060 chr8 19954279 G T LPL Pathogenic missense rs118204068 chr8 19955894 A A LPL Pathogenic missense rs268 chr8 19956018 T G LPL 0.0083/17 Pathogenic missense rs118204071 chr8 19959322 C A LPL Pathogenic missense rs118204078 chr8 19960935 T G LPL Pathogenic missense rs118204066 chr8 19960988 A A LPL Pathogenic stop-gained rs118204079 chr8 19962126 T A LPL Pathogenic missense rs328 chr8 19962213 A G LPL 0.0964/209 Benign stop-gained rs398122891 chr8 22177868 C G BMP1 Pathogenic missense,nc-transcript-variant rs80359861 chr8 27788003 T A ESCO2 Pathogenic splice-donor-variant rs80359864 chr8 27791968 A A ESCO2 Pathogenic nc-transcript-variant,stop-gained rs2230009 chr8 31064419 T A WRN 0.0638/138 Benign missense rs1800389 chr8 31067041 A T WRN 0.2741/597 Benign synonymous-codon rs121908448 chr8 31090843 G T WRN Pathogenic missense rs1800392 chr8 31116441 A T WRN 0.4945/1076 Benign synonymous-codon rs1801195 chr8 31141764 C T WRN 0.4706/1024 Benign missense rs121908447 chr8 31147397 A T WRN Pathogenic stop-gained rs1346044 chr8 31167138 G C WRN 0.1827/397 Benign missense rs398122367 chr8 33500443 T T TTI2,MAK16 Pathogenic missense,utr-variant-3-prime rs398123002 chr8 37749793 G T ERLIN2,LOC728024 Pathogenic splice-acceptor-variant,upstream-variant-2KB rs375168720 chr8 38253642 A C DDHD2 Pathogenic missense rs121909636 chr8 38414569 G A FGFR1 Pathogenic stop-gained rs121909632 chr8 38421889 T A FGFR1 Pathogenic missense rs137853041 chr8 39017298 G T ADAM9 Pathogenic nc-transcript-variant,stop-gained rs137852831 chr8 41661923 A A ANK1,MIR486 Pathogenic intron-variant,stop-gained,upstream-variant-2KB rs137852829 chr8 41672445 A A ANK1 Pathogenic intron-variant,stop-gained rs267607111 chr8 42839187 T C THAP1 Pathogenic intron-variant,missense rs118204013 chr8 42839212 T G THAP1 Pathogenic intron-variant,missense rs387907176 chr8 42843025 G C THAP1 Pathogenic missense rs397509385 chr8 43122234 G G POMK Pathogenic missense rs193066451 chr8 43159045 T A HGSNAT 0.0005/1 Pathogenic splice-donor-variant rs121908283 chr8 43178184 A G HGSNAT Pathogenic intron-variant,stop-gained rs2293869 chr8 54626835 A T RP1 0.2608/568 Benign missense rs446227 chr8 54628890 C A RP1 0.2750/599 Benign missense rs398124220 chr8 54628901 G G RP1 Pathogenic stop-gained rs414352 chr8 54628953 C C RP1 0.3039/662 Benign missense rs387907103 chr8 56978137 A A IMPAD1 Pathogenic stop-gained rs387907101 chr8 56980056 A T IMPAD1 Pathogenic missense rs387906598 chr8 60222677 G T CA8 Pathogenic missense rs61743130 chr8 60266008 T A CA8 0.0551/119 Benign synonymous-codon rs7464181 chr8 60266015 T C CA8 0.4702/1023 Benign synonymous-codon rs121434345 chr8 60741596 T G CHD7 Pathogenic missense rs41305525 chr8 60742450 T G CHD7 0.0028/5 Benign missense rs186394299 chr8 60742851 C C CHD7 0.0014/2 Benign synonymous-codon rs200220845 chr8 60822027 G A,T CHD7 Pathogenic stop-gained,upstream-variant-2KB rs121434339 chr8 60830569 T G CHD7 Pathogenic missense rs121434342 chr8 60836105 A T CHD7 Pathogenic stop-gained rs267606724 chr8 60841997 A T CHD7 Pathogenic stop-gained rs398124320 chr8 60845380 A G CHD7 Pathogenic stop-gained rs16926499 chr8 60849057 G T CHD7 0.0142/30 Benign synonymous-codon rs121434340 chr8 60850506 A G CHD7 Pathogenic stop-gained rs398124322 chr8 60852497 G C CHD7 Pathogenic splice-acceptor-variant rs121434341 chr8 60855993 G A CHD7 Pathogenic missense rs2272727 chr8 60856636 A G CHD7 0.0409/89 Benign synonymous-codon rs397515526 chr8 63061353 A G TTPA Pathogenic missense rs121917850 chr8 63064294 G T TTPA Pathogenic missense rs397515525 chr8 63065908 G G TTPA Pathogenic intron-variant,missense rs397515524 chr8 63066035 G T TTPA Pathogenic intron-variant,missense rs121917851 chr8 63066056 A A TTPA Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs116171274 chr8 64596707 G A CYP7B1 0.0009/2 Pathogenic missense rs121908610 chr8 64604827 A A CYP7B1 Pathogenic missense rs121908613 chr8 64615716 T T CYP7B1 Pathogenic stop-gained rs121908614 chr8 64624493 A T CYP7B1 Pathogenic missense rs375113643 chr8 67095440 G T CSPP1 Pathogenic stop-gained,utr-variant-5-prime rs114402678 chr8 67483797 C A CPA6 0.0028/5 Pathogenic missense rs121909201 chr8 71215470 G C EYA1 Pathogenic missense rs121909200 chr8 71215630 G G EYA1 Pathogenic missense rs121909202 chr8 71244662 C A EYA1 Pathogenic intron-variant,stop-gained rs387907070 chr8 73978783 G T TMEM70 Pathogenic nc-transcript-variant,stop-gained rs61732273 chr8 73981184 T G TMEM70 0.0248/54 Benign missense,nc-transcript-variant,utr-variant-3-prime rs1053079 chr8 73981586 C G TMEM70 0.2479/540 Benign missense,nc-transcript-variant,utr-variant-3-prime rs1053077 chr8 73981615 A G TMEM70 0.2479/540 Benign missense,nc-transcript-variant,utr-variant-3-prime rs121908112 chr8 74350553 G A GDAP1 Pathogenic intron-variant,nc-transcript-variant,stop-gained rs281865060 chr8 74360173 G G GDAP1 Pathogenic missense,nc-transcript-variant rs104894078 chr8 74360184 G T GDAP1 Pathogenic missense,nc-transcript-variant rs397515441 chr8 74360293 A G GDAP1 Pathogenic missense,nc-transcript-variant rs104894079 chr8 74360295 C C GDAP1 Pathogenic missense,nc-transcript-variant rs104894075 chr8 74362940 A G GDAP1 Pathogenic downstream-variant-500B,nc-transcript-variant,stop-gained rs121908113 chr8 74363011 A G GDAP1 Pathogenic downstream-variant-500B,missense,nc-transcript-variant rs397515443 chr8 74364111 A T GDAP1 Pathogenic missense,nc-transcript-variant rs28937906 chr8 74364134 G T GDAP1 Pathogenic missense,nc-transcript-variant rs61752123 chr8 76983824 T A PEX2 Pathogenic stop-gained rs118203934 chr8 85465357 G G RP11-317J10.2,CA2 Pathogenic stop-gained,upstream-variant-2KB rs118203933 chr8 85473779 A T CA2 Pathogenic missense rs2228063 chr8 85480760 A G CA2 0.0285/62 Pathogenic missense rs35365413 chr8 86628994 A C CNGB3 0.0014/2 Pathogenic missense rs121908974 chr8 89958760 T A,T NBN Pathogenic nc-transcript-variant,stop-gained rs121908973 chr8 89964428 A A NBN Pathogenic nc-transcript-variant,stop-gained rs34767364 chr8 89971232 T C,T NBN 0.0023/4 Pathogenic missense,nc-transcript-variant,synonymous-codon rs61754966 chr8 89978293 T C NBN 0.0009/2 Pathogenic missense,nc-transcript-variant rs202149403 chr8 93780633 G C TMEM67 Pathogenic missense,nc-transcript-variant rs35793208 chr8 93780659 A A TMEM67 0.0133/29 Benign missense,nc-transcript-variant rs137853107 chr8 93791282 T G TMEM67 Pathogenic missense,nc-transcript-variant rs3134031 chr8 93795937 T G TMEM67 0.3108/677 Benign missense,nc-transcript-variant rs201893408 chr8 93795970 G C TMEM67 Pathogenic missense,nc-transcript-variant rs117195541 chr8 93804836 A C TMEM67 0.0064/14 Benign nc-transcript-variant,synonymous-codon rs267607116 chr8 93808861 G A,C TMEM67 Pathogenic missense,nc-transcript-variant rs16916221 chr8 93815432 T C TMEM67 0.0702/152 Benign nc-transcript-variant,synonymous-codon rs137853184 chr8 95032093 G G NDUFAF6 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs77759532 chr8 99134718 A G VPS13B 0.0142/30 Benign synonymous-codon rs180177356 chr8 99156609 G T VPS13B Pathogenic stop-gained rs140848350 chr8 99170105 T C VPS13B 0.0064/14 Benign missense rs61753721 chr8 99193027 C A VPS13B 0.0101/21 Benign missense rs140936527 chr8 99274273 A A VPS13B Pathogenic stop-gained rs120074152 chr8 99384294 G T VPS13B Pathogenic stop-gained rs61759485 chr8 99442576 G G VPS13B 0.0032/7 Benign missense rs140353201 chr8 99467566 G T VPS13B Pathogenic stop-gained rs16897391 chr8 99481676 T G VPS13B 0.0119/26 Benign synonymous-codon rs144257406 chr8 99642091 G T VPS13B 0.0051/11 Benign missense rs180177365 chr8 99642435 G T VPS13B Pathogenic stop-gained rs180177366 chr8 99717374 T A VPS13B Pathogenic splice-donor-variant rs61753724 chr8 99720960 C G VPS13B 0.0702/152 Benign synonymous-codon rs120074150 chr8 99720973 G T VPS13B Pathogenic stop-gained rs180177368 chr8 99766801 A T VPS13B Pathogenic stop-gained rs120074155 chr8 99818473 T C VPS13B Pathogenic missense rs28940272 chr8 99820031 T G VPS13B 0.0018/4 Pathogenic missense rs116746734 chr8 99848776 T A VPS13B 0.0055/11 Benign missense rs397518459 chr8 100184711 A T SPAG1 Pathogenic stop-gained rs201740530 chr8 100233436 A T SPAG1 Pathogenic stop-gained rs3779617 chr8 101619683 T A GRHL2 0.0298/65 Benign missense rs121918309 chr8 102214136 A A RRM2B Pathogenic missense rs387906892 chr8 102232256 C A RRM2B Pathogenic intron-variant,missense rs151339002 chr8 103329863 A T FZD6 Pathogenic nc-transcript-variant,stop-gained rs121964923 chr8 104428071 G A,G DPYS 0.0014/2 Pathogenic missense rs121908601 chr8 105419192 G G ZFPM2 0.0023/4 Pathogenic missense rs28374544 chr8 105802051 G G ZFPM2 0.0331/72 Pathogenic missense rs121908603 chr8 105802189 T C ZFPM2 0.0009/2 Pathogenic missense rs28939070 chr8 115415014 G T TRPS1 Pathogenic missense rs28939069 chr8 115415015 C A TRPS1 Pathogenic missense rs121908435 chr8 115418391 G T TRPS1 Pathogenic missense rs121908430 chr8 115604916 C T TRPS1 Pathogenic stop-gained rs387907213 chr8 116847643 T G RAD21 Pathogenic missense rs104894092 chr8 118932982 C G TNFRSF11B Pathogenic missense rs398123007 chr8 125032239 C T KIAA0196 Pathogenic splice-donor-variant rs397515564 chr8 125055601 C G KIAA0196 Pathogenic missense rs80338866 chr8 125057574 A A,G KIAA0196 Pathogenic missense rs118192252 chr8 132141191 T C KCNQ3 0.0005/1 Pathogenic missense rs2303995 chr8 132163489 C C KCNQ3 0.0592/129 Benign missense rs118192247 chr8 132175491 C T KCNQ3 Pathogenic missense,utr-variant-5-prime rs141945265 chr8 132632819 G A,C LRRC6 Pathogenic missense,nc-transcript-variant rs397515461 chr8 132632831 A A LRRC6 Pathogenic nc-transcript-variant,stop-gained rs121912648 chr8 132882609 G T TG Pathogenic stop-gained rs2076739 chr8 132971804 G A TG Pathogenic missense rs119483085 chr8 133258374 A A NDRG1 Pathogenic stop-gained rs34179337 chr8 140360087 A A TRAPPC9 0.0073/16 Benign synonymous-codon rs267607136 chr8 140397625 A A TRAPPC9 Pathogenic stop-gained rs61740786 chr8 140450918 A A TRAPPC9 0.0092/20 Benign synonymous-codon rs34644439 chr8 143920044 G T PLEC 0.0923/200 Benign synonymous-codon rs184102912 chr8 143923416 T T PLEC 0.0032/7 Benign intron-variant,synonymous-codon rs138404604 chr9 2054672 A G SMARCA2 0.0018/4 Benign synonymous-codon rs281875190 chr9 2088545 A T SMARCA2 Pathogenic missense rs281875239 chr9 2115969 G T SMARCA2 Pathogenic missense rs34080096 chr9 2643175 T C VLDLR 0.0037/7 Benign missense rs2242105 chr9 2643179 G T VLDLR 0.0051/11 Benign synonymous-codon rs200605669 chr9 2645574 C A VLDLR ?/0 Benign missense rs80338905 chr9 2645603 G A,T VLDLR Pathogenic stop-gained rs6143 chr9 2645719 G T VLDLR 0.0510/111 Benign synonymous-codon rs148487944 chr9 2646492 G G VLDLR ?/0 Benign missense rs79720897 chr9 2648747 T T VLDLR 0.0018/4 Benign synonymous-codon rs6148 chr9 2648773 G G VLDLR 0.0955/208 Benign synonymous-codon rs140256288 chr9 2718181 A A,T KCNV2 Pathogenic stop-gained rs397514604 chr9 2718230 C C KCNV2 Pathogenic missense rs35154632 chr9 4118540 C G GLIS3 0.0133/29 Benign missense rs77375493 chr9 5073770 T A,T JAK2 ?/0 Pathogenic missense rs121964974 chr9 6588417 T A GLDC Pathogenic missense rs104894130 chr9 12695626 A G TYRP1 Pathogenic stop-gained rs281865424 chr9 12702424 A A TYRP1 Pathogenic missense rs121912778 chr9 12704564 G T TYRP1 Pathogenic stop-gained rs121912609 chr9 14824929 A A FREM1 Pathogenic missense rs184394424 chr9 14842561 G T FREM1 0.0005/1 Pathogenic missense rs10971019 chr9 32542206 G G TOPORS 0.1345/292 Benign synonymous-codon rs121908132 chr9 32974544 C C APTX Pathogenic missense,nc-transcript-variant rs1065765 chr9 33135240 T A B4GALT1 0.0574/124 Benign synonymous-codon rs111033668 chr9 34647524 G G GALT Pathogenic intron-variant,missense rs111033669 chr9 34647529 C G GALT Pathogenic intron-variant,missense rs111033667 chr9 34647655 G C GALT Pathogenic intron-variant,splice-acceptor-variant rs111033672 chr9 34647658 C T GALT Benign intron-variant,synonymous-codon rs111033674 chr9 34647695 G G GALT Pathogenic intron-variant,missense rs111033675 chr9 34647696 A A GALT Pathogenic intron-variant,missense rs111033680 chr9 34647702 C C GALT Pathogenic intron-variant,missense rs111033681 chr9 34647706 T A,T GALT Pathogenic intron-variant,splice-donor-variant rs111033726 chr9 34648349 T C GALT Pathogenic missense rs111033744 chr9 34648395 T C,G GALT Pathogenic missense rs111033778 chr9 34649010 C A GALT Pathogenic missense rs111033779 chr9 34649013 G G GALT Pathogenic missense rs111033772 chr9 34649021 T G GALT Pathogenic missense rs367543263 chr9 34649031 G G GALT Pathogenic missense rs111033773 chr9 34649032 T T GALT 0.0005/1 Pathogenic missense rs367543262 chr9 34649034 T G GALT Pathogenic missense rs111033774 chr9 34649042 T T GALT Pathogenic missense rs111033775 chr9 34649043 C G GALT Pathogenic missense rs111033780 chr9 34649048 A A GALT Pathogenic missense rs111033841 chr9 34649049 G T GALT Pathogenic missense rs1055607 chr9 34649053 T A GALT 0.0207/45 Benign synonymous-codon rs115527942 chr9 34649056 T T GALT 0.0037/7 Benign synonymous-codon rs111033781 chr9 34649058 T A GALT Pathogenic missense rs121909331 chr9 35064167 C T VCP Pathogenic missense rs398123012 chr9 35738811 A A GBA2 Pathogenic intron-variant,missense rs121912739 chr9 35800427 G T NPR2 Pathogenic stop-gained rs62541771 chr9 36218224 C A GNE Pathogenic missense rs121908626 chr9 36218225 A T GNE Pathogenic missense rs111302956 chr9 36219884 T A GNE 0.0069/14 Benign synonymous-codon rs121908623 chr9 36234114 G A GNE Pathogenic missense rs121908629 chr9 36236864 G T GNE Pathogenic intron-variant,missense rs121908630 chr9 36236928 A T GNE Pathogenic intron-variant,missense rs121908634 chr9 36246136 G C GNE Pathogenic missense rs7158 chr9 37782114 T T EXOSC3 0.4642/1010 Benign intron-variant,synonymous-codon rs387907195 chr9 37783973 T G EXOSC3 Pathogenic missense rs141138948 chr9 37783993 C G EXOSC3 Pathogenic missense rs104894106 chr9 69065013 T T FXN Pathogenic missense rs72709079 chr9 69218314 T A TJP2 0.0064/14 Benign synonymous-codon rs34774441 chr9 69236961 G A TJP2 0.0386/84 Benign missense rs121908073 chr9 72694578 G T TMC1 0.0005/1 Pathogenic nc-transcript-variant,stop-gained rs151001642 chr9 72789258 G T TMC1 Pathogenic nc-transcript-variant,stop-gained rs17058153 chr9 72792243 G C TMC1 0.0096/20 Benign missense,nc-transcript-variant rs121434633 chr9 84955510 C G NTRK2 Pathogenic missense rs387906756 chr9 91296026 C T AUH Pathogenic missense rs121434636 chr9 91297993 T A AUH Pathogenic stop-gained rs121909084 chr9 91737463 T A ROR2 Pathogenic missense rs121909087 chr9 91757380 T A ROR2 Pathogenic stop-gained,utr-variant-5-prime rs267607088 chr9 92047198 C A SPTLC1 Pathogenic missense rs104886458 chr9 95101723 G G FANCC Pathogenic missense rs199476092 chr9 95467197 G C LOC100507346,PTCH1 0.0009/2 Pathogenic missense,nc-transcript-variant rs202111971 chr9 95516690 C C PTCH1 0.0041/8 Benign missense,utr-variant-5-prime rs119481074 chr9 96240877 T C HSD17B3 Pathogenic missense rs28939085 chr9 96240885 A A HSD17B3 Pathogenic missense rs119481079 chr9 96251482 T C HSD17B3 Pathogenic missense,upstream-variant-2KB rs104894132 chr9 97675579 C A XPA Pathogenic missense,nc-transcript-variant,stop-gained,synonymous-codon rs121918712 chr9 99137883 A T TGFBR1 Pathogenic missense rs121918711 chr9 99146553 C G TGFBR1 Pathogenic missense rs2491097 chr9 100240169 A T INVS 0.0046/10 Benign missense,nc-transcript-variant rs121964995 chr9 100264835 G C INVS Pathogenic missense,nc-transcript-variant rs267607185 chr9 100292976 G T INVS Pathogenic nc-transcript-variant,stop-gained rs80356747 chr9 101362718 G C BAAT Pathogenic missense rs80356746 chr9 101362827 G C BAAT Pathogenic synonymous-codon rs118204426 chr9 101425532 C T ALDOB Pathogenic stop-gained rs137854497 chr9 104804668 A A ABCA1 Pathogenic missense rs137854500 chr9 104814154 A T ABCA1 Pathogenic missense rs119463990 chr9 105596631 G T FKTN Pathogenic stop-gained rs119463995 chr9 105601319 C A FKTN Pathogenic missense rs119463991 chr9 105601325 A T FKTN Pathogenic stop-gained rs119463996 chr9 105604372 T C FKTN Pathogenic missense rs119463994 chr9 105604381 G C FKTN Pathogenic missense rs34787999 chr9 105604453 A A FKTN 0.1942/423 Benign missense rs17309806 chr9 105618074 A A FKTN 0.2098/457 Benign intron-variant,synonymous-codon rs35142681 chr9 110687209 G T MUSK 0.0133/29 Benign missense rs2274419 chr9 110775842 G A MUSK 0.1024/223 Benign missense rs137933052 chr9 115041016 G T TNC 0.0005/1 Pathogenic missense rs121434447 chr9 116698923 T A TRIM32,ASTN2 Pathogenic intron-variant,missense rs1661300 chr9 116698996 C A TRIM32,ASTN2 0.1061/231 Benign intron-variant,synonymous-codon rs111033570 chr9 116699201 A A TRIM32,ASTN2 Pathogenic intron-variant,missense rs7875294 chr9 120422708 T A CDK5RAP2 Benign missense,nc-transcript-variant rs3780679 chr9 120443634 T G CDK5RAP2 0.0680/147 Benign missense,nc-transcript-variant rs41296081 chr9 120477365 G G CDK5RAP2 0.0060/13 Benign missense,nc-transcript-variant rs4836822 chr9 120528758 A G CDK5RAP2 0.1791/389 Benign missense,nc-transcript-variant rs35199933 chr9 120530039 A A CDK5RAP2 Benign nc-transcript-variant,stop-gained rs199422126 chr9 120550852 T T CDK5RAP2 Pathogenic nc-transcript-variant,stop-gained rs121909588 chr9 120962749 T A C5 Pathogenic stop-gained rs121909715 chr9 121310819 A A,T GSN Pathogenic missense rs121909486 chr9 126693589 C A LMX1B Pathogenic missense rs121918400 chr9 127824960 T C ENG Pathogenic stop-gained rs137853203 chr9 127868346 A C AK1 Pathogenic missense rs7997 chr9 127935750 T C DPM2 0.2948/642 Benign missense rs6781 chr9 127935764 T G DPM2 0.2383/518 Benign synonymous-codon rs387907030 chr9 128946082 T C DOLK,NUP188 Pathogenic missense,upstream-variant-2KB rs1801968 chr9 129818622 T G TOR1A 0.0776/168 Pathogenic missense rs267607134 chr9 129818752 T T TOR1A Pathogenic missense rs1057484 chr9 130489370 G C ASS1 0.0872/190 Benign synonymous-codon rs121908641 chr9 130499545 G A ASS1 Pathogenic missense rs121913459 chr9 130872896 T T ABL1 Pathogenic missense rs10901333 chr9 131052491 G G LAMC3 0.4408/959 Benign missense rs397514501 chr9 131508913 A G POMT1 Pathogenic missense,utr-variant-5-prime rs11243406 chr9 131515483 T A POMT1 0.0142/30 Benign missense rs121434380 chr9 132296907 G A SETX Pathogenic missense rs121434379 chr9 132296909 G C SETX Pathogenic missense rs543573 chr9 132327442 G C SETX 0.4137/900 Benign missense rs116333061 chr9 132329641 C T SETX 0.0041/8 Pathogenic missense,stop-gained rs29001584 chr9 132330432 A G SETX Pathogenic missense,stop-gained rs121434381 chr9 132331123 C A SETX Pathogenic stop-gained rs29001665 chr9 132331293 T A SETX Pathogenic missense,synonymous-codon rs28941475 chr9 132349421 T A SETX Pathogenic missense rs118203657 chr9 132903665 T A TSC1 0.0023/4 Pathogenic missense rs118203447 chr9 132912446 A C,T TSC1 Pathogenic stop-gained rs118203426 chr9 132921429 T C TSC1 Pathogenic missense rs118203396 chr9 132921943 G G TSC1 Pathogenic missense rs118203388 chr9 132923361 C T TSC1 Pathogenic stop-gained rs121918657 chr9 133352446 G A SURF1 Pathogenic stop-gained rs398122806 chr9 133352518 G G SURF1 Pathogenic missense rs121918127 chr9 136429731 A A INPP5E Pathogenic stop-gained rs34071122 chr9 136438784 A T INPP5E 0.0124/27 Benign synonymous-codon rs121908925 chr9 136674753 C A AGPAT2 Pathogenic stop-gained rs968733 chr9 137087175 C G MAN1B1-AS1,MAN1B1 0.0831/181 Benign missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs142271310 chr9 137716894 G G EHMT1 0.0005/1 Benign nc-transcript-variant,synonymous-codon rs137852718 chr9 137776684 G T EHMT1 Pathogenic nc-transcript-variant,stop-gained rs7868455 chr9 137776695 G T EHMT1 0.0510/111 Benign nc-transcript-variant,synonymous-codon rs121918301 chr9 137818100 G T EHMT1 Pathogenic nc-transcript-variant,stop-gained rs28357970 chrM 3796 C G,T ND1 0.0065/7 Pathogenic missense rs397515509 chrM 4025 A T COX1 Pathogenic missense rs387906426 chrM 4640 A A COX1 Pathogenic missense rs267606889 chrM 4681 A C COX1 Pathogenic missense rs199476129 chrM 5920 A A TRNC Pathogenic stop-gained rs199476128 chrM 6480 T A ATP8 0.0056/5 Pathogenic missense rs199476127 chrM 6721 G C ATP6 Pathogenic missense rs28679680 chrM 6930 G A ATP6 Pathogenic stop-gained rs267606884 chrM 7275 C C ATP6 Pathogenic missense rs199474825 chrM 7587 G C ATP6 Pathogenic missense rs199474829 chrM 7896 G A ATP6 Pathogenic stop-gained rs199474826 chrM 8009 T A ATP6 Pathogenic missense rs199476138 chrM 9185 C C ATP6 Pathogenic missense rs267606615 chrM 9379 G A ATP6 Pathogenic stop-gained rs267606892 chrM 10563 G C ND3 Pathogenic missense rs199476113 chrM 11084 C G ND4 0.0047/5 Pathogenic missense rs200145866 chrM 11253 T C ND4 0.0037/3 Pathogenic missense rs200873900 chrM 11696 T A ND4 0.0084/8 Pathogenic missense rs28384199 chrM 11777 G A,G ND4 Pathogenic missense rs199476112 chrM 11778 C A ND4 Pathogenic missense rs267606894 chrM 12770 G G CYTB 0.0009/0 Pathogenic missense rs199974018 chrM 12811 A C CYTB 0.0168/18 Pathogenic missense rs267606899 chrM 12848 A T CYTB Pathogenic missense rs267606896 chrM 13084 G T CYTB Pathogenic missense rs267606897 chrM 13513 A A CYTB Pathogenic missense rs387906425 chrM 13730 A A CYTB Pathogenic missense rs397515505 chrM 14325 T C CYTB Pathogenic missense rs199476107 chrM 14453 C A CYTB Pathogenic missense rs199476105 chrM 14459 C A CYTB Pathogenic missense rs397515506 chrM 14568 G T CYTB Pathogenic missense rs199795644 chrM 14831 C A CYTB 0.0019/2 Pathogenic missense rs207459998 chrM 14846 G A CYTB Pathogenic missense rs207460000 chrM 15150 A A CYTB Pathogenic stop-gained rs207460001 chrM 15197 C C CYTB Pathogenic missense rs207459999 chrM 15242 G A CYTB Pathogenic stop-gained rs207459996 chrM 15572 T C CYTB Pathogenic missense rs207460002 chrM 15579 C G CYTB Pathogenic missense rs207459997 chrM 15615 C A CYTB Pathogenic missense rs200336777 chrM 15812 T A CYTB 0.0056/5 Pathogenic missense rs80338711 chrX 2953163 C A,G ARSE Pathogenic missense rs122460153 chrX 2953241 G G ARSE Pathogenic missense rs3747334 chrX 5893489 A C NLGN4X Benign synonymous-codon rs3747333 chrX 5893491 T A NLGN4X Benign missense rs150108002 chrX 5903427 C G NLGN4X Benign synonymous-codon rs61741754 chrX 5903427 C G NLGN4X Benign synonymous-codon rs137853168 chrX 7325357 G C STS Pathogenic missense rs137853169 chrX 7334060 T G STS Pathogenic missense rs137853166 chrX 7334066 C A STS Pathogenic missense rs137852517 chrX 8568252 A A KAL1 0.0006/1 Pathogenic missense rs137852297 chrX 9743637 T T GPR143 Pathogenic missense rs143673869 chrX 10459794 G T MID1 0.0042/6 Benign synonymous-codon rs147909430 chrX 10495587 C T MID1 0.0030/4 Benign synonymous-codon rs193929392 chrX 11118574 A A HCCS Pathogenic missense rs121917888 chrX 11120974 G T HCCS Pathogenic stop-gained rs121917889 chrX 11121652 G T HCCS Pathogenic missense rs6641078 chrX 12707582 A G FRMPD4 0.2642/437 Benign synonymous-codon rs112904131 chrX 12718591 G T FRMPD4 0.0109/17 Benign synonymous-codon rs312262808 chrX 13735346 G A,C TRAPPC2,OFD1 Pathogenic missense,nc-transcript-variant,synonymous-codon,upstream-variant-2KB,utr-variant-5-prime rs312262809 chrX 13735348 A C TRAPPC2,OFD1 Pathogenic splice-donor-variant,upstream-variant-2KB rs312262810 chrX 13736487 G T TRAPPC2,OFD1 Pathogenic nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs312262814 chrX 13736601 C A TRAPPC2,OFD1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs312262815 chrX 13736607 A G TRAPPC2,OFD1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs312262816 chrX 13736609 T G TRAPPC2,OFD1 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs312262817 chrX 13736613 A T TRAPPC2,OFD1 Pathogenic nc-transcript-variant,stop-gained,upstream-variant-2KB rs312262826 chrX 13738905 A G OFD1 Pathogenic nc-transcript-variant,stop-gained,upstream-variant-2KB,utr-variant-5-prime rs312262836 chrX 13744456 A T OFD1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs312262841 chrX 13746429 A T OFD1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs312262851 chrX 13746948 A T OFD1 Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs312262861 chrX 13753366 G G,T OFD1 Pathogenic splice-acceptor-variant,utr-variant-5-prime rs387906726 chrX 15321727 T A PIGA Pathogenic nc-transcript-variant,stop-gained rs199422232 chrX 15331637 T T PIGA Pathogenic intron-variant,nc-transcript-variant,stop-gained rs199422233 chrX 15331768 G A PIGA Pathogenic intron-variant,nc-transcript-variant,stop-gained rs137852213 chrX 15845965 A A AP1S2 Pathogenic nc-transcript-variant,stop-gained rs104894735 chrX 15852371 C A AP1S2 Pathogenic missense,nc-transcript-variant,stop-gained,synonymous-codon rs398124611 chrX 17721541 G A NHS Pathogenic stop-gained rs145977627 chrX 17727651 G T NHS 0.0012/2 Benign missense rs122460159 chrX 18564496 G T CDKL5 Pathogenic missense rs267606713 chrX 18598499 A T CDKL5 Pathogenic missense rs267606714 chrX 18598508 T A CDKL5 Pathogenic missense rs61752063 chrX 18647231 C G RS1,CDKL5 Pathogenic intron-variant,missense rs35693326 chrX 18653446 T A RS1,CDKL5 0.0230/37 Benign intron-variant,missense rs36022183 chrX 18653454 G G,T RS1,CDKL5 0.0012/2 Benign intron-variant,missense,synonymous-codon rs137852285 chrX 18901487 T A PHKA2 Pathogenic stop-gained rs137852295 chrX 18945131 A C PHKA2 Pathogenic missense rs137852290 chrX 18945139 G T PHKA2 Pathogenic missense rs137852294 chrX 18945140 C A PHKA2 Pathogenic missense rs137853254 chrX 19355360 G G PDHA1 Pathogenic missense rs137853255 chrX 19355472 A A PDHA1 Pathogenic missense rs137853253 chrX 19355699 T C PDHA1 Pathogenic missense rs137853256 chrX 19358959 A A PDHA1 Pathogenic missense rs28935171 chrX 20155435 G T RPS6KA3 Pathogenic missense rs122454128 chrX 20156144 G A RPS6KA3 Pathogenic stop-gained rs2230488 chrX 20186343 A T RPS6KA3 0.2376/393 Benign synonymous-codon rs56218010 chrX 20234771 T C RPS6KA3 0.0103/16 Benign missense rs77732468 chrX 21490548 C G CNKSR2 0.0568/93 Benign synonymous-codon rs387906708 chrX 21737616 C A SMPX Pathogenic nc-transcript-variant,stop-gained rs387906706 chrX 21737655 T A SMPX Pathogenic nc-transcript-variant,stop-gained rs3213451 chrX 21843316 T G MBTPS2 0.4667/771 Benign synonymous-codon rs122468179 chrX 21882519 C C MBTPS2 Pathogenic missense rs121434610 chrX 21967312 G A SMS Pathogenic missense,utr-variant-5-prime rs397515550 chrX 21971926 A A SMS Pathogenic intron-variant,missense rs397515553 chrX 21992634 T C,G SMS Pathogenic missense rs267606945 chrX 22094005 C C PHEX Pathogenic missense rs267606946 chrX 22094009 G A PHEX Pathogenic missense rs137853268 chrX 22094080 G A PHEX Pathogenic stop-gained rs137853271 chrX 22212957 G T PHEX Pathogenic stop-gained rs36018672 chrX 24055644 G T EIF2S3 0.4764/788 Benign synonymous-codon rs16997659 chrX 24057745 A G EIF2S3 0.0846/140 Benign missense rs11548543 chrX 24073174 G T EIF2S3 0.0157/26 Benign synonymous-codon rs28935481 chrX 30304673 T A NR0B1 Pathogenic missense rs104894897 chrX 30304676 T C NR0B1 Pathogenic missense rs104894886 chrX 30308257 C T NR0B1 Pathogenic missense,stop-gained rs132630331 chrX 30707584 A G GK Pathogenic missense rs132630329 chrX 30720639 G T GK Pathogenic stop-gained rs132630328 chrX 30720721 C T GK Pathogenic missense rs132630330 chrX 30724124 G C GK Pathogenic missense rs398123834 chrX 31178668 G T DMD Pathogenic splice-donor-variant,synonymous-codon rs104894787 chrX 31178784 A A DMD Pathogenic missense,nc-transcript-variant,stop-gained,synonymous-codon rs398123828 chrX 31180369 C T DMD Pathogenic splice-donor-variant rs398124104 chrX 31182861 A T DMD Pathogenic nc-transcript-variant,stop-gained rs398124094 chrX 31223046 A G,T DMD Pathogenic splice-donor-variant rs398124092 chrX 31223071 G A DMD Pathogenic nc-transcript-variant,stop-gained rs128626254 chrX 31323625 A T DMD Pathogenic nc-transcript-variant,stop-gained rs128625229 chrX 31444621 A A DMD Pathogenic nc-transcript-variant,stop-gained rs41305353 chrX 31478314 C A DMD 0.0387/64 Pathogenic missense,nc-transcript-variant rs398124076 chrX 31478983 T T DMD Pathogenic missense,nc-transcript-variant rs398124074 chrX 31479043 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398124073 chrX 31496871 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398124068 chrX 31507313 C T DMD Pathogenic nc-transcript-variant,stop-gained rs398124061 chrX 31627821 A C DMD Pathogenic nc-transcript-variant,stop-gained rs1801188 chrX 31679519 T G DMD 0.1995/329 Benign nc-transcript-variant,synonymous-codon rs398124053 chrX 31679564 C T DMD Pathogenic nc-transcript-variant,stop-gained rs398124052 chrX 31679565 A T DMD Pathogenic nc-transcript-variant,stop-gained rs398124038 chrX 31875343 T A DMD Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs398124036 chrX 31929602 C T DMD Pathogenic nc-transcript-variant,stop-gained,utr-variant-5-prime rs398124033 chrX 31929747 G C DMD Pathogenic splice-acceptor-variant rs55672607 chrX 32155550 G C DMD 0.0550/90 Benign intron-variant,upstream-variant-2KB rs73219231 chrX 32156587 T A DMD 0.1137/188 Benign intron-variant,upstream-variant-2KB rs128626251 chrX 32216981 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398124008 chrX 32287536 G A DMD Pathogenic nc-transcript-variant,stop-gained rs373804251 chrX 32310127 C G,T DMD Pathogenic nc-transcript-variant,stop-gained rs398124002 chrX 32310199 T T DMD Pathogenic nc-transcript-variant,stop-gained rs398124001 chrX 32310261 T A DMD Pathogenic nc-transcript-variant,stop-gained rs128626249 chrX 32342123 A A DMD Pathogenic nc-transcript-variant,stop-gained rs398123997 chrX 32342249 C A DMD Pathogenic nc-transcript-variant,stop-gained rs398123995 chrX 32343202 C A DMD Pathogenic nc-transcript-variant,stop-gained rs398123993 chrX 32343233 T T DMD Pathogenic nc-transcript-variant,stop-gained rs1064325 chrX 32345999 C A,T DMD Pathogenic intron-variant,nc-transcript-variant,stop-gained rs398123990 chrX 32348501 C A DMD Pathogenic nc-transcript-variant,stop-gained rs398123981 chrX 32362826 A A DMD Pathogenic nc-transcript-variant,stop-gained rs34102501 chrX 32362931 T A DMD 0.0024/4 Benign missense,nc-transcript-variant rs398123964 chrX 32380620 C A DMD Pathogenic nc-transcript-variant,stop-gained rs128626248 chrX 32389605 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123953 chrX 32389644 A A DMD Pathogenic nc-transcript-variant,stop-gained rs28715870 chrX 32411823 T C DMD 0.0200/32 Benign missense,nc-transcript-variant rs398123947 chrX 32438241 T G DMD Pathogenic missense,nc-transcript-variant rs1800269 chrX 32448508 T C,T DMD 0.0097/16 Benign missense,nc-transcript-variant rs398123942 chrX 32454685 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123941 chrX 32454763 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123937 chrX 32463438 C T DMD Pathogenic splice-donor-variant rs3827462 chrX 32463465 G A DMD 0.0181/29 Benign missense,nc-transcript-variant rs398123935 chrX 32463576 A A DMD Pathogenic nc-transcript-variant,stop-gained rs128626246 chrX 32464674 A T DMD Pathogenic nc-transcript-variant,stop-gained rs398123920 chrX 32468584 A A DMD Pathogenic nc-transcript-variant,stop-gained rs398123918 chrX 32468638 C A DMD Pathogenic nc-transcript-variant,stop-gained rs1800268 chrX 32468639 G A,G DMD 0.0103/16 Benign nc-transcript-variant,synonymous-codon rs398123917 chrX 32468683 T A DMD Pathogenic nc-transcript-variant,stop-gained rs128625227 chrX 32484931 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123903 chrX 32485072 A A DMD Pathogenic nc-transcript-variant,stop-gained rs398123891 chrX 32491417 C C DMD Pathogenic missense,nc-transcript-variant rs398123888 chrX 32491480 T A DMD Pathogenic nc-transcript-variant,stop-gained rs72468681 chrX 32491508 T C DMD 0.0054/8 Benign missense,nc-transcript-variant rs139726281 chrX 32491513 A T DMD Benign missense,nc-transcript-variant rs16998350 chrX 32545184 A A DMD 0.0036/6 Benign missense,nc-transcript-variant rs398123872 chrX 32545295 T A DMD Pathogenic nc-transcript-variant,stop-gained rs34563188 chrX 32545330 A A DMD 0.0054/8 Benign missense,nc-transcript-variant rs128626242 chrX 32565742 A T DMD Pathogenic nc-transcript-variant,stop-gained rs398123868 chrX 32565794 A A DMD Pathogenic nc-transcript-variant,stop-gained rs5927083 chrX 32573814 C C DMD 0.0907/149 Benign nc-transcript-variant,synonymous-codon rs398123865 chrX 32573834 A A DMD Pathogenic nc-transcript-variant,stop-gained rs61733587 chrX 32595805 T T DMD 0.0115/18 Benign missense,nc-transcript-variant rs140340626 chrX 32595846 T G DMD 0.0018/2 Benign missense,nc-transcript-variant rs128626241 chrX 32595870 A A DMD Pathogenic nc-transcript-variant,stop-gained rs398123862 chrX 32614302 C A DMD Pathogenic splice-donor-variant rs128626240 chrX 32614347 A A DMD Pathogenic nc-transcript-variant,stop-gained rs398123853 chrX 32644177 A T DMD Pathogenic nc-transcript-variant,stop-gained rs398123852 chrX 32644202 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123840 chrX 32645065 T A DMD Pathogenic nc-transcript-variant,stop-gained rs398123830 chrX 32645101 A A DMD Pathogenic nc-transcript-variant,stop-gained rs128626239 chrX 32699195 C A DMD Pathogenic nc-transcript-variant,stop-gained rs128626237 chrX 32699252 C T DMD Pathogenic missense,nc-transcript-variant rs398124032 chrX 32809492 C T DMD Pathogenic splice-donor-variant rs398124004 chrX 32809527 T T DMD Pathogenic nc-transcript-variant,stop-gained rs140077080 chrX 33128102 A A DMD 0.0103/16 Benign intron-variant,utr-variant-5-prime rs45622536 chrX 33128744 G A,T DMD 0.0145/24 Benign intron-variant,upstream-variant-2KB rs398123923 chrX 33211281 A A DMD Pathogenic intron-variant,splice-donor-variant rs66718538 chrX 33339722 A G DMD 0.0423/69 Benign upstream-variant-2KB rs104894953 chrX 37728068 G A XK Pathogenic stop-gained rs137854588 chrX 37783565 G T CYBB Pathogenic stop-gained rs137854593 chrX 37809604 T G CYBB Pathogenic missense rs144635565 chrX 38297331 G C RPGR 0.0060/10 Benign missense rs62642057 chrX 38304746 C T RPGR Pathogenic missense rs369037463 chrX 38317430 G A,T RPGR Pathogenic missense rs62638634 chrX 38322921 C A RPGR Pathogenic missense rs72554322 chrX 38367387 C A OTC Pathogenic stop-gained rs72554323 chrX 38367392 A T OTC Pathogenic missense rs72554328 chrX 38369806 A C OTC Pathogenic missense rs72554329 chrX 38369810 C T OTC Pathogenic missense rs72554330 chrX 38369811 A T OTC Pathogenic stop-gained rs72554331 chrX 38369815 G A OTC Pathogenic missense rs72554332 chrX 38369817 A G OTC Pathogenic missense rs72554333 chrX 38369819 T T OTC Pathogenic missense rs72554345 chrX 38369860 A C OTC Pathogenic missense rs72554346 chrX 38369863 G C OTC Pathogenic missense rs72554347 chrX 38369871 A A OTC Pathogenic missense rs68058881 chrX 38369878 T A,T OTC Pathogenic splice-donor-variant rs72554350 chrX 38381348 A A OTC Pathogenic missense rs72554351 chrX 38381357 A T OTC Pathogenic missense rs72554352 chrX 38381359 G A OTC Pathogenic missense rs67651903 chrX 38381360 A A,T OTC Pathogenic missense rs66539573 chrX 38381393 T G,T OTC Pathogenic missense rs66656800 chrX 38381429 G A,C,T OTC Pathogenic missense rs66737144 chrX 38381430 T A,T OTC Pathogenic splice-donor-variant rs66556380 chrX 38401273 G C,G,T OTC Pathogenic splice-acceptor-variant rs72556252 chrX 38401280 G C OTC Pathogenic missense rs72556253 chrX 38401282 C C OTC Pathogenic missense rs72556254 chrX 38401283 T T OTC Pathogenic missense rs72556256 chrX 38401292 A A OTC Pathogenic missense rs72556257 chrX 38401295 T T OTC Pathogenic missense rs72556259 chrX 38401304 G C OTC Pathogenic missense rs72556260 chrX 38401306 C C OTC Pathogenic missense rs67960011 chrX 38401309 G G,T OTC Pathogenic missense,stop-gained rs68026851 chrX 38401310 A A,C OTC Pathogenic missense rs72556261 chrX 38401313 G A OTC Pathogenic missense rs72556262 chrX 38401318 A T OTC Pathogenic stop-gained rs72556263 chrX 38401325 A G OTC Pathogenic stop-gained rs67016166 chrX 38401331 G C,G OTC Pathogenic missense rs66741318 chrX 38401332 G C,T OTC Pathogenic missense rs72556265 chrX 38401340 G G OTC Pathogenic missense rs72556266 chrX 38401343 T T OTC Pathogenic missense rs67890094 chrX 38401351 C C,T OTC Pathogenic missense rs72556268 chrX 38401352 A A OTC Pathogenic missense rs72556269 chrX 38401364 T C OTC Pathogenic missense rs67954347 chrX 38401367 C A,C,G OTC Pathogenic missense rs72556270 chrX 38401369 A G OTC Pathogenic missense rs72556271 chrX 38401370 T G OTC Pathogenic missense rs66626662 chrX 38401372 G A,C OTC Pathogenic missense rs72556272 chrX 38401373 G A OTC Pathogenic missense rs72556273 chrX 38401378 C C OTC Pathogenic missense rs72556274 chrX 38401379 A G OTC Pathogenic stop-gained rs72556275 chrX 38401381 A T OTC Pathogenic missense rs66564822 chrX 38401389 C A,G OTC Pathogenic stop-gained rs66867430 chrX 38401391 T C,G OTC Pathogenic missense rs72556276 chrX 38401392 C A OTC Pathogenic missense rs72556277 chrX 38401393 C G OTC Pathogenic missense rs72556278 chrX 38401394 T T OTC Pathogenic missense rs72556279 chrX 38401402 T T OTC Pathogenic missense rs72556280 chrX 38401404 C G OTC Pathogenic missense rs72556281 chrX 38401408 C C OTC Pathogenic missense rs72556286 chrX 38401424 C C OTC Pathogenic missense rs72556287 chrX 38401428 G C OTC Pathogenic missense rs72556288 chrX 38401429 T C OTC Pathogenic splice-donor-variant rs67367843 chrX 38401430 T A,C OTC Pathogenic splice-donor-variant rs72556294 chrX 38403639 G C OTC Pathogenic missense rs72556295 chrX 38403640 T T OTC Pathogenic missense rs72558407 chrX 38403679 G C OTC Pathogenic missense rs72558408 chrX 38403681 A T OTC Pathogenic missense rs72558409 chrX 38403682 C C OTC Pathogenic missense rs72558410 chrX 38403685 C G OTC Pathogenic missense rs72558417 chrX 38403703 G G,T OTC Pathogenic missense rs72558420 chrX 38403717 A T OTC Pathogenic missense rs72558421 chrX 38403720 T T OTC Pathogenic missense rs72558425 chrX 38403735 C G OTC Pathogenic missense rs72558426 chrX 38403736 A T OTC Pathogenic missense rs281865552 chrX 38403740 G A,C OTC Pathogenic missense,synonymous-codon rs67839036 chrX 38408741 G A OTC Pathogenic splice-acceptor-variant rs72558428 chrX 38408751 C A OTC Pathogenic missense rs67120076 chrX 38408752 G G,T OTC Pathogenic missense rs72558429 chrX 38408776 A T OTC Pathogenic missense rs72558430 chrX 38408778 A T OTC Pathogenic stop-gained rs67283833 chrX 38408794 G G,T OTC Pathogenic missense rs66851495 chrX 38408795 G A,C OTC Pathogenic missense,synonymous-codon rs66500027 chrX 38408796 T A,T OTC Pathogenic splice-donor-variant rs72558431 chrX 38408797 A C OTC Pathogenic splice-donor-variant rs72558433 chrX 38408874 G G OTC Pathogenic splice-acceptor-variant rs72558435 chrX 38408883 C T OTC Pathogenic missense rs72558437 chrX 38408898 A A OTC Pathogenic missense rs72558440 chrX 38408922 T C OTC Pathogenic missense rs72558441 chrX 38408937 A C OTC Pathogenic missense rs72558444 chrX 38408948 C G OTC Pathogenic missense rs67156896 chrX 38408949 T A,T OTC Pathogenic missense rs72558445 chrX 38408951 G C OTC Pathogenic missense rs72558446 chrX 38408952 G T OTC Pathogenic missense rs72558447 chrX 38408953 A A OTC Pathogenic stop-gained rs72558448 chrX 38408957 G C OTC Pathogenic missense rs72558449 chrX 38408961 G C OTC Pathogenic missense rs72558450 chrX 38408964 A A OTC Pathogenic missense rs72558451 chrX 38408966 A G,T OTC 0.0012/2 Pathogenic stop-gained rs1800328 chrX 38408967 A C,G OTC 0.0206/33 Pathogenic missense rs72558456 chrX 38409025 G T OTC Pathogenic missense rs66512766 chrX 38409026 T A,T OTC Pathogenic splice-donor-variant rs72558465 chrX 38411906 C T OTC Pathogenic missense rs67501347 chrX 38411908 C A,G OTC Pathogenic missense rs72558466 chrX 38411922 A T OTC Pathogenic stop-gained rs72558467 chrX 38411923 A G OTC Pathogenic missense rs72558468 chrX 38411925 T A OTC Pathogenic missense rs72558475 chrX 38411956 A A OTC Pathogenic stop-gained rs281865553 chrX 38411999 G A OTC Pathogenic missense rs72558483 chrX 38412000 T T OTC Pathogenic splice-donor-variant rs72558484 chrX 38412001 A C OTC Pathogenic splice-donor-variant rs67916658 chrX 38421022 G A OTC Pathogenic splice-acceptor-variant rs72558486 chrX 38421023 C T OTC Pathogenic missense rs72558490 chrX 38421039 G C OTC Pathogenic missense rs72558492 chrX 38421051 C G OTC Pathogenic missense rs72558493 chrX 38421056 C A OTC Pathogenic missense rs72558494 chrX 38421059 A T OTC Pathogenic stop-gained rs7049247 chrX 38666276 A C TSPAN7 0.0502/83 Benign synonymous-codon rs121434619 chrX 40072420 G A BCOR Pathogenic stop-gained rs17145652 chrX 40073567 G T BCOR 0.0060/10 Benign synonymous-codon rs34217273 chrX 40591350 T A ATP6AP2 0.0151/25 Benign synonymous-codon rs7691 chrX 40600788 G C ATP6AP2 0.1481/245 Benign synonymous-codon rs35798522 chrX 40605570 C C ATP6AP2 0.0175/29 Benign missense rs137852815 chrX 41553843 A A CASK Pathogenic stop-gained rs387906705 chrX 41561588 G A CASK Pathogenic stop-gained rs137852820 chrX 41589562 T A CASK Pathogenic missense rs137852817 chrX 41660468 A G CASK Pathogenic missense rs387906704 chrX 41745564 C A CASK Pathogenic stop-gained rs137852816 chrX 41853204 G A CASK Pathogenic missense rs72554632 chrX 43731784 A T MAOA Pathogenic stop-gained rs6323 chrX 43731789 C T MAOA 0.3319/549 Benign synonymous-codon rs1137070 chrX 43744144 A C MAOA 0.4002/662 Benign synonymous-codon rs104894873 chrX 43949817 C T NDP Pathogenic missense,stop-gained,synonymous-codon rs137852221 chrX 43958512 C T NDP Pathogenic missense rs104894870 chrX 43958515 A C NDP Pathogenic missense rs397514628 chrX 45063449 G T KDM6A Pathogenic nc-transcript-variant,stop-gained rs398122929 chrX 45089911 A A KDM6A Pathogenic nc-transcript-variant,stop-gained rs187237351 chrX 46500690 G T ZNF674 0.0030/4 Benign missense rs28933687 chrX 46853726 T A,C,T RP2 Pathogenic missense rs104894927 chrX 46853731 G T RP2 Pathogenic stop-gained rs80356545 chrX 47205989 A T UBA1,INE1 Pathogenic downstream-variant-500B,missense rs17147624 chrX 47449396 T C ZNF41 0.0302/49 Benign missense rs17147793 chrX 47914996 T T ZNF81 0.0103/16 Benign missense rs28933691 chrX 47915182 C A ZNF81 Pathogenic missense rs663514 chrX 47916557 T A ZNF81 0.0441/72 Benign synonymous-codon rs104894795 chrX 48523824 G C EBP Pathogenic missense rs132630270 chrX 48686928 T G WAS Pathogenic missense rs387906717 chrX 48688403 T C WAS Pathogenic missense rs122456136 chrX 49222576 T G CACNA1F Pathogenic missense rs122467169 chrX 49251698 A C FOXP3 Pathogenic missense rs122467175 chrX 49251711 C G FOXP3 Pathogenic missense rs273585646 chrX 50086543 A A CLCN5 Pathogenic missense rs151340623 chrX 50090139 C C CLCN5 Pathogenic missense rs61748324 chrX 50634446 T A SHROOM4 0.0224/36 Benign missense,nc-transcript-variant rs104894767 chrX 50915966 C A BMP15 0.0012/2 Pathogenic missense rs199422238 chrX 53198836 A A MIR6894,KDM5C Pathogenic downstream-variant-500B,missense rs387906729 chrX 53210500 T T KDM5C Pathogenic missense rs199422237 chrX 53211545 C C KDM5C Pathogenic missense rs147546892 chrX 53211793 G A KDM5C 0.0067/10 Benign synonymous-codon rs61751437 chrX 53217236 T G,T KDM5C 0.0079/12 Benign missense,synonymous-codon rs199422239 chrX 53218398 C T KDM5C Pathogenic intron-variant,missense rs122461163 chrX 53431450 T C RIBC1,HSD17B10 Pathogenic downstream-variant-500B,missense rs477171 chrX 53534126 G A,C,G HUWE1 0.0067/10 Benign synonymous-codon rs121918527 chrX 53535474 A A HUWE1 Pathogenic missense rs6638360 chrX 53614686 G C HUWE1 0.4226/699 Benign synonymous-codon rs41307640 chrX 53627451 T C HUWE1 0.0133/22 Benign missense rs61743595 chrX 53648257 T C HUWE1 0.0115/18 Benign synonymous-codon rs121918524 chrX 54011232 A G PHF8 Pathogenic missense rs121918522 chrX 54014529 A A PHF8 Pathogenic stop-gained rs77581173 chrX 54014554 T A PHF8 0.0181/29 Benign synonymous-codon rs148215758 chrX 54017674 A C PHF8 0.0224/36 Benign synonymous-codon rs12011120 chrX 54449716 G G FGD1 0.1784/295 Benign synonymous-codon rs28935497 chrX 54456233 G T FGD1 Pathogenic missense rs398124156 chrX 54465725 G A FGD1 Pathogenic stop-gained rs137853267 chrX 54465797 C C FGD1 Pathogenic missense rs398124155 chrX 54467837 T C FGD1 Pathogenic stop-gained rs137852306 chrX 55009242 C C ALAS2 Pathogenic missense rs137852300 chrX 55015583 T C ALAS2 Pathogenic missense rs137852303 chrX 55017594 G G ALAS2 Pathogenic missense rs137852302 chrX 55017618 T T ALAS2 Pathogenic missense rs137852310 chrX 55021095 A G ALAS2 Pathogenic missense rs137852301 chrX 55021195 A T ALAS2 Pathogenic missense rs137852308 chrX 55021215 C A,T ALAS2 Pathogenic missense rs1367830 chrX 57448699 T C FAAH2 0.4516/746 Benign intron-variant,synonymous-codon rs398122939 chrX 64917857 T A ZC4H2 Pathogenic missense,nc-transcript-variant,synonymous-codon rs104894742 chrX 67545150 A A AR Pathogenic missense rs137852586 chrX 67643378 C T AR Pathogenic missense rs137852566 chrX 67686012 A T AR Pathogenic stop-gained rs137852569 chrX 67686030 C A AR Pathogenic missense rs137852579 chrX 67711549 G C AR Pathogenic missense rs137852565 chrX 67721905 C A AR Pathogenic stop-gained rs137852592 chrX 67721937 G C AR Pathogenic missense rs137852577 chrX 67722898 G T AR Pathogenic missense rs9332969 chrX 67722899 T A AR Pathogenic missense rs137852574 chrX 67723688 G G AR Pathogenic missense rs137852581 chrX 67723701 A T AR Pathogenic missense rs137852568 chrX 67723728 A T AR Pathogenic stop-gained rs137852582 chrX 67723786 A G AR Pathogenic missense rs104894796 chrX 68838820 C T EFNB1 Pathogenic missense rs28935170 chrX 68839731 A T EFNB1 Pathogenic missense rs387907197 chrX 70033430 G T EDA Pathogenic missense rs143163513 chrX 70134651 A A IGBP1 Benign missense,nc-transcript-variant rs137852510 chrX 71108323 G T CXorf65,IL2RG Pathogenic missense,upstream-variant-2KB rs111033617 chrX 71108599 G T CXorf65,IL2RG Pathogenic missense,upstream-variant-2KB rs111033620 chrX 71110617 C T IL2RG Pathogenic missense rs387907360 chrX 71128686 C A MED12 Pathogenic missense rs104894817 chrX 71223796 C A GJB1 Pathogenic missense rs116840817 chrX 71223852 C C GJB1 Pathogenic missense rs104894819 chrX 71223901 T G GJB1 Pathogenic missense rs397515418 chrX 72462008 G C HDAC8 Pathogenic missense,nc-transcript-variant rs397515416 chrX 72495167 G C HDAC8 Pathogenic missense,nc-transcript-variant rs397515415 chrX 72495216 T A HDAC8 Pathogenic nc-transcript-variant,stop-gained rs137852546 chrX 72582562 C A PHKA1 Pathogenic stop-gained rs137852548 chrX 72667425 A T PHKA1 Pathogenic missense rs80356714 chrX 75070433 T T ABCB7 Pathogenic missense rs80356713 chrX 75070499 T A,G ABCB7 Pathogenic missense rs72554634 chrX 75071516 A C,T ABCB7 Pathogenic missense rs122445100 chrX 77520826 T A ATRX Pathogenic stop-gained rs122445099 chrX 77520832 T A ATRX Pathogenic stop-gained rs122445098 chrX 77558685 A C ATRX Pathogenic missense rs122445101 chrX 77558781 G T ATRX Pathogenic missense rs122445097 chrX 77574326 A G ATRX Pathogenic missense rs45439799 chrX 77600552 T C ATRX 0.0036/6 Pathogenic missense rs122445102 chrX 77633210 A A ATRX Pathogenic missense rs122445106 chrX 77633660 T A ATRX Pathogenic missense rs148975763 chrX 77635979 G T ATRX 0.0018/2 Benign synonymous-codon rs122445109 chrX 77684030 A G ATRX Pathogenic missense rs122445105 chrX 77684520 T A ATRX Pathogenic missense rs122445103 chrX 77688844 G C ATRX Pathogenic missense rs122445108 chrX 77717155 T A ATRX Pathogenic intron-variant,stop-gained,utr-variant-5-prime rs397514585 chrX 77902657 A T COX7B Pathogenic stop-gained rs151340633 chrX 77988722 G T ATP7A Pathogenic intron-variant,stop-gained rs151340631 chrX 78011216 A G,T ATP7A Pathogenic intron-variant,missense rs72554649 chrX 78029271 G T ATP7A Pathogenic intron-variant,stop-gained rs267606673 chrX 78029314 A T ATP7A Pathogenic intron-variant,missense rs137852536 chrX 78113767 C A PGK1 Pathogenic missense rs137852531 chrX 78113890 G C PGK1 Pathogenic missense rs137852528 chrX 78123240 A A PGK1 Pathogenic missense rs137852535 chrX 78123292 C T PGK1 Pathogenic missense rs137852537 chrX 78124896 C A PGK1 Pathogenic missense rs104894944 chrX 80023236 G T TBX22 Pathogenic missense,nc-transcript-variant,utr-variant-5-prime rs104894946 chrX 80026711 G C TBX22 Pathogenic missense,nc-transcript-variant rs199422240 chrX 85271115 G T ZNF711 Pathogenic stop-gained rs75398746 chrX 85308188 G T POF1B 0.0036/6 Pathogenic missense rs397514603 chrX 85879054 G C CHM Pathogenic missense rs132630267 chrX 85894201 C T CHM Pathogenic stop-gained rs132630264 chrX 85894214 A T CHM Pathogenic stop-gained rs132630265 chrX 85894227 A A CHM Pathogenic stop-gained rs132630323 chrX 100407276 C T PCDH19 Pathogenic missense rs56307810 chrX 100408517 T A PCDH19 0.0024/4 Benign synonymous-codon rs121918363 chrX 100667292 C G SRPX2 Pathogenic missense rs1054894 chrX 101346555 A A TIMM8A Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs111033631 chrX 101348595 G A TIMM8A Pathogenic missense,stop-gained rs128622212 chrX 101349910 G G TIMM8A,BTK Pathogenic missense,upstream-variant-2KB rs128622211 chrX 101353196 A A BTK Pathogenic stop-gained rs128621210 chrX 101353213 T T BTK Pathogenic missense rs128621208 chrX 101353282 C T BTK Pathogenic missense rs128620183 chrX 101354687 G T BTK Pathogenic missense rs128621200 chrX 101356102 G G BTK Pathogenic intron-variant,missense rs41310709 chrX 101356112 C A,C BTK Pathogenic intron-variant,missense,synonymous-codon rs128620184 chrX 101356845 G C BTK Pathogenic intron-variant,missense rs128621197 chrX 101357561 T C BTK Pathogenic intron-variant,stop-gained rs28935478 chrX 101358330 A C BTK Pathogenic intron-variant,missense rs128621196 chrX 101358411 A G BTK Pathogenic missense rs128621195 chrX 101358672 G C BTK Pathogenic missense rs128621192 chrX 101360589 A T BTK Pathogenic stop-gained rs128620189 chrX 101375188 C G BTK Pathogenic missense rs128620185 chrX 101375202 G T BTK Pathogenic missense rs128620187 chrX 101375248 C A BTK Pathogenic stop-gained rs128620186 chrX 101375283 T G BTK Pathogenic missense rs104894844 chrX 101397907 A A RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense,stop-gained rs104894849 chrX 101398004 T T RPL36A-HNRNPH2,GLA Pathogenic intron-variant,stop-gained rs104894827 chrX 101398033 G A RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense,synonymous-codon rs104894842 chrX 101398079 C T RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense,stop-gained rs398123223 chrX 101398470 G G RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs28935489 chrX 101398479 A A RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs104894846 chrX 101398481 A T RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs104894830 chrX 101398483 G C RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs28935485 chrX 101398534 A C RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs28935495 chrX 101398554 T C RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs104894851 chrX 101398920 T T RPL36A-HNRNPH2,GLA Pathogenic intron-variant,stop-gained,synonymous-codon rs398123217 chrX 101398939 A C RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs104894838 chrX 101400699 C C RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense,stop-gained,synonymous-codon rs28935195 chrX 101401713 A T RPL36A-HNRNPH2,GLA Pathogenic intron-variant,missense rs104894833 chrX 101403984 A G RPL36A-HNRNPH2,GLA ?/0 Pathogenic intron-variant,missense rs398123206 chrX 101403986 T G RPL36A-HNRNPH2,GLA Pathogenic intron-variant,splice-acceptor-variant rs104894848 chrX 101407710 T G RPL36A-HNRNPH2,GLA,HNRNPH2 Pathogenic intron-variant,missense,upstream-variant-2KB rs104894835 chrX 101407803 T C RPL36A-HNRNPH2,GLA,HNRNPH2 Pathogenic intron-variant,missense,upstream-variant-2KB rs3027585 chrX 101407915 C T RPL36A-HNRNPH2,GLA,HNRNPH2 0.0810/133 Benign intron-variant,upstream-variant-2KB,utr-variant-5-prime rs132630285 chrX 103786493 G A LOC101928286,PLP1 Pathogenic intron-variant,missense rs132630295 chrX 103786682 G T LOC101928286,PLP1 Pathogenic intron-variant,missense rs132630284 chrX 103787951 A C LOC101928286,PLP1 Pathogenic intron-variant,missense rs1126707 chrX 103787953 G C LOC101928286,PLP1 0.2304/381 Benign intron-variant,synonymous-codon rs132630278 chrX 103788460 C T LOC101928286,PLP1 Pathogenic intron-variant,missense rs132630283 chrX 103788485 T C LOC101928286,PLP1 Pathogenic intron-variant,missense rs132630291 chrX 103789346 C C LOC101928286,PLP1 Pathogenic intron-variant,missense rs72554658 chrX 106033600 G A SERPINA7 Pathogenic downstream-variant-500B,missense rs28933688 chrX 106036662 A G SERPINA7 Pathogenic missense rs28933689 chrX 106036712 T T SERPINA7 Pathogenic missense rs80338731 chrX 107639301 A C PRPS1 Pathogenic intron-variant,missense rs137852542 chrX 107639326 A C PRPS1 Pathogenic intron-variant,missense rs180177151 chrX 107639365 A A PRPS1 Pathogenic intron-variant,missense rs80338732 chrX 107640939 G C PRPS1 Pathogenic intron-variant,missense rs137852543 chrX 107640980 T A PRPS1 Pathogenic intron-variant,missense rs80338675 chrX 107640993 A C PRPS1 Pathogenic intron-variant,missense rs137852544 chrX 107645215 C T PRPS1 Pathogenic missense,utr-variant-5-prime rs137852545 chrX 107645225 A G PRPS1 Pathogenic missense,utr-variant-5-prime rs180177153 chrX 107649944 T C PRPS1 Pathogenic missense rs180177154 chrX 107649991 G A PRPS1 Pathogenic missense rs104886048 chrX 108539751 T A COL4A5 Pathogenic stop-gained rs104886047 chrX 108539754 G G COL4A5 Pathogenic stop-gained rs104886323 chrX 108559063 G A COL4A5 Pathogenic splice-acceptor-variant rs281874669 chrX 108559064 G A COL4A5 Pathogenic missense rs104886367 chrX 108568628 G T COL4A5 Pathogenic splice-acceptor-variant rs281874706 chrX 108568638 G A COL4A5 Pathogenic missense rs104886395 chrX 108571412 G C COL4A5 Pathogenic splice-acceptor-variant rs281874722 chrX 108571413 G A COL4A5 Pathogenic missense rs281874723 chrX 108571414 A A,T COL4A5 Pathogenic missense rs104886051 chrX 108571416 A T COL4A5 Pathogenic stop-gained rs104886052 chrX 108571458 G A,C COL4A5 Pathogenic missense rs281874737 chrX 108571459 T A COL4A5 Pathogenic missense rs104886055 chrX 108573628 G C COL4A5 Pathogenic missense rs281874755 chrX 108573646 G A COL4A5 Pathogenic missense rs104886429 chrX 108573655 T A COL4A5 Pathogenic splice-donor-variant rs281874756 chrX 108575908 G G COL4A5 Pathogenic splice-acceptor-variant rs104886431 chrX 108575909 G A COL4A5 Pathogenic splice-acceptor-variant rs104886434 chrX 108575973 T A COL4A5 Pathogenic splice-donor-variant rs104886066 chrX 108577980 A A COL4A5 Pathogenic missense rs281874761 chrX 108578097 C G COL4A5 Pathogenic missense rs104886076 chrX 108578291 G C COL4A5 Pathogenic missense rs281874763 chrX 108578292 T A COL4A5 Pathogenic missense rs104886444 chrX 108578385 G G COL4A5 Pathogenic splice-donor-variant rs104886446 chrX 108580587 T A COL4A5 Pathogenic splice-donor-variant rs104886453 chrX 108580981 G G COL4A5 Pathogenic splice-acceptor-variant rs281874656 chrX 108586666 G A COL4A5 Pathogenic missense rs104886108 chrX 108586703 A C COL4A5 Pathogenic missense rs104886317 chrX 108586748 T A COL4A5 Pathogenic splice-donor-variant rs104886324 chrX 108586749 A G COL4A5 Pathogenic splice-donor-variant rs104886102 chrX 108591127 A T COL4A5 Pathogenic missense rs104886103 chrX 108591135 G A COL4A5 Pathogenic missense rs281874663 chrX 108591151 A A COL4A5 Pathogenic missense rs104886114 chrX 108591618 A A COL4A5 Pathogenic missense rs104886115 chrX 108591627 A A COL4A5 Pathogenic missense rs104886116 chrX 108591635 G A COL4A5 Pathogenic missense rs281874667 chrX 108591644 G A COL4A5 Pathogenic missense rs104886312 chrX 108591645 T A COL4A5 Pathogenic splice-donor-variant rs104886329 chrX 108595508 G A COL4A5 Pathogenic splice-acceptor-variant rs104886331 chrX 108595602 T A COL4A5 Pathogenic splice-donor-variant rs281874671 chrX 108597378 C A COL4A5 Pathogenic missense rs104886126 chrX 108597422 G C COL4A5 Pathogenic missense rs104886127 chrX 108597423 T T COL4A5 Pathogenic missense rs281874673 chrX 108597432 T A COL4A5 Pathogenic missense rs104886129 chrX 108597461 G C COL4A5 Pathogenic missense rs104886136 chrX 108597470 G A COL4A5 Pathogenic missense rs104886337 chrX 108597569 T T COL4A5 Pathogenic splice-donor-variant rs104886147 chrX 108598834 G A COL4A5 Pathogenic missense rs104886134 chrX 108598835 T A,C,T COL4A5 Pathogenic missense rs104886339 chrX 108598871 T A COL4A5 Pathogenic splice-donor-variant rs104886340 chrX 108601486 T T COL4A5 Pathogenic splice-donor-variant rs104886158 chrX 108601885 T A COL4A5 Pathogenic missense rs104886161 chrX 108601989 G C COL4A5 Pathogenic missense rs104886348 chrX 108606741 G A COL4A5 Pathogenic splice-acceptor-variant rs281874690 chrX 108606802 G A COL4A5 Pathogenic missense rs104886179 chrX 108614919 G A COL4A5 Pathogenic missense rs281874696 chrX 108615015 G C COL4A5 Pathogenic missense rs104886185 chrX 108615024 G A COL4A5 Pathogenic missense rs104886192 chrX 108621817 T G COL4A5 Pathogenic missense rs281874702 chrX 108621821 T T COL4A5 Pathogenic missense rs104886371 chrX 108622826 T C,T COL4A5 Pathogenic splice-donor-variant rs104886372 chrX 108624235 G T COL4A5 Pathogenic splice-acceptor-variant rs104886378 chrX 108625704 G A COL4A5 Pathogenic splice-acceptor-variant rs104886202 chrX 108625705 T T COL4A5 Pathogenic missense rs104886209 chrX 108625768 A T COL4A5 Pathogenic missense rs104886213 chrX 108626284 A T COL4A5 Pathogenic stop-gained rs104886219 chrX 108626299 G A,C COL4A5 Pathogenic missense rs104886221 chrX 108626300 T C COL4A5 Pathogenic missense rs281874712 chrX 108626309 T T COL4A5 Pathogenic missense rs104886222 chrX 108626315 A G COL4A5 Pathogenic stop-gained rs104886233 chrX 108655373 A T COL4A5 Pathogenic stop-gained rs104886237 chrX 108666549 G A COL4A5 Pathogenic missense rs2273051 chrX 108666554 G G COL4A5 0.1354/223 Benign synonymous-codon rs104886381 chrX 108667132 G A COL4A5 Pathogenic splice-acceptor-variant rs104886246 chrX 108668345 G C COL4A5 Pathogenic missense rs104886247 chrX 108668346 G A COL4A5 Pathogenic missense rs104886399 chrX 108677614 A G COL4A5 Pathogenic missense rs104886260 chrX 108680712 A T COL4A5 Pathogenic stop-gained rs104886266 chrX 108680751 G A COL4A5 Pathogenic missense rs104886397 chrX 108680883 G G,T COL4A5 Pathogenic splice-acceptor-variant rs104886267 chrX 108680956 G A,T COL4A5 Pathogenic missense rs281874734 chrX 108687481 G C COL4A5 Pathogenic splice-acceptor-variant rs281874735 chrX 108687482 T T COL4A5 Pathogenic missense rs281874740 chrX 108687623 A G COL4A5 Pathogenic missense rs104886413 chrX 108687695 T C COL4A5 Pathogenic splice-donor-variant rs201220208 chrX 108692786 C A COL4A5 Pathogenic missense rs104886292 chrX 108692800 A A COL4A5 Pathogenic stop-gained rs104886295 chrX 108692912 C G COL4A5 Benign missense rs104886286 chrX 108692924 G T COL4A5 Pathogenic stop-gained rs281874743 chrX 108692925 G A COL4A5 Pathogenic missense rs281874745 chrX 108694808 G C COL4A5 Pathogenic missense rs104886287 chrX 108694809 T A,C COL4A5 Pathogenic missense rs104886288 chrX 108694817 G C COL4A5 Pathogenic missense rs281874746 chrX 108694820 A A COL4A5 Pathogenic missense rs104886291 chrX 108694884 A T COL4A5 Pathogenic missense rs104886424 chrX 108694904 G A COL4A5 Pathogenic missense rs104886297 chrX 108694905 T A COL4A5 Pathogenic missense rs104886298 chrX 108694908 T G COL4A5 Pathogenic missense rs104886299 chrX 108694909 T A COL4A5 Pathogenic stop-gained rs104886305 chrX 108695439 G A COL4A5 Pathogenic missense rs281874752 chrX 108696295 G G COL4A5 Pathogenic splice-acceptor-variant rs281874753 chrX 108696340 G T COL4A5 Pathogenic stop-gained rs104886306 chrX 108696349 G T COL4A5 Pathogenic stop-gained rs104886308 chrX 108696350 A A,C,T COL4A5 Pathogenic missense rs104886310 chrX 108696352 G C COL4A5 Pathogenic missense rs104886311 chrX 108696354 C G COL4A5 Pathogenic missense rs281874754 chrX 108696362 C T COL4A5 Pathogenic missense rs122458139 chrX 109674403 G A ACSL4 Pathogenic missense rs387906713 chrX 110688800 A A CHRDL1 Pathogenic missense rs121434613 chrX 111194402 A A PAK3 Pathogenic missense,nc-transcript-variant rs150174049 chrX 111195916 G T PAK3 0.0109/17 Benign nc-transcript-variant,synonymous-codon rs121434611 chrX 111196488 G T PAK3 Pathogenic nc-transcript-variant,stop-gained rs121434614 chrX 111196570 G C PAK3 Pathogenic missense,nc-transcript-variant rs104894783 chrX 111410260 C G DCX Pathogenic missense rs398122394 chrX 111685040 T G ALG13 Pathogenic missense,nc-transcript-variant,synonymous-codon rs397514587 chrX 111685059 A G ALG13 Pathogenic missense,nc-transcript-variant,synonymous-codon rs6318 chrX 114731326 T G HTR2C 0.1663/275 Benign missense rs5191 chrX 116173023 G A AGTR2 0.0121/20 Benign missense rs122468181 chrX 119837771 A A,T UPF3B Pathogenic stop-gained rs104894858 chrX 120442599 G T LAMP2 Pathogenic missense rs73219144 chrX 120442600 G A LAMP2 0.0200/32 Benign synonymous-codon rs12097 chrX 120456678 A A LAMP2 0.3942/652 Benign synonymous-codon rs397516743 chrX 120456771 G C LAMP2 Pathogenic splice-acceptor-variant rs9697983 chrX 121049176 C G GLUD2 0.0230/37 Pathogenic missense rs502434 chrX 123403426 G C GRIA3 0.4008/662 Benign synonymous-codon rs137852352 chrX 123464905 G C GRIA3 Pathogenic missense rs111033623 chrX 124365786 G T SH2D1A Pathogenic stop-gained rs111033630 chrX 124365787 A T SH2D1A Pathogenic missense rs111033628 chrX 124365795 A T SH2D1A Pathogenic stop-gained rs111033626 chrX 124370276 A T SH2D1A Pathogenic missense rs398123289 chrX 129590145 C A OCRL Pathogenic splice-acceptor-variant rs281864468 chrX 130131770 C A AIFM1 Pathogenic missense,utr-variant-3-prime rs387906721 chrX 132082456 A T FRMD7 Pathogenic missense rs137852211 chrX 132085992 G C FRMD7 Pathogenic missense rs122453121 chrX 133699902 G A GPC3 Pathogenic stop-gained rs104894854 chrX 133753628 G T GPC3 Pathogenic missense rs132630299 chrX 134377751 C A PHF6 Pathogenic missense rs104894917 chrX 134413937 A G PHF6 Pathogenic missense rs104894919 chrX 134415055 G G PHF6 Pathogenic missense rs137852480 chrX 134473453 A C HPRT1 Pathogenic missense rs387906725 chrX 134475189 T A HPRT1 Pathogenic missense rs137852494 chrX 134475197 G G,T HPRT1 Pathogenic missense,stop-gained rs137852502 chrX 134475201 T G HPRT1 Pathogenic missense rs137852478 chrX 134475285 T T HPRT1 Pathogenic missense rs137852485 chrX 134475358 T A HPRT1 Pathogenic missense rs137852477 chrX 134490199 G G HPRT1 Pathogenic missense rs137852505 chrX 134493564 A G HPRT1 Pathogenic stop-gained rs137852484 chrX 134493586 C T HPRT1 Pathogenic missense rs137852493 chrX 134498431 A T HPRT1 Pathogenic missense rs137852492 chrX 134498433 A T HPRT1 Pathogenic missense rs267606863 chrX 134498655 A A HPRT1 Pathogenic missense rs137852504 chrX 134498657 T G HPRT1 Pathogenic missense rs398124224 chrX 136012979 A T SLC9A6 Pathogenic stop-gained rs122461162 chrX 136024365 G T SLC9A6 Pathogenic stop-gained rs398123003 chrX 136030154 A T SLC9A6 Pathogenic stop-gained rs122458143 chrX 136207855 C T FHL1 Pathogenic missense,nc-transcript-variant rs122458144 chrX 136207917 G C FHL1 Pathogenic missense,nc-transcript-variant rs122458145 chrX 136207918 C A FHL1 Pathogenic missense,nc-transcript-variant rs122459149 chrX 136208578 G C FHL1 Pathogenic intron-variant,missense,nc-transcript-variant rs267606811 chrX 136209392 T A FHL1 Pathogenic intron-variant,missense rs104894774 chrX 136648355 G G CD40LG Pathogenic missense rs104894778 chrX 136656377 G A CD40LG Pathogenic missense rs104894773 chrX 136656393 G A CD40LG Pathogenic missense rs104894772 chrX 136656395 G G CD40LG Pathogenic missense rs104894768 chrX 136659309 A T CD40LG Pathogenic missense rs104894771 chrX 136659332 C C CD40LG Pathogenic missense rs35106300 chrX 136745320 G T ARHGEF6 ?/0 Benign missense,utr-variant-5-prime rs387906498 chrX 137569063 A T ZIC3 Pathogenic stop-gained rs387906475 chrX 139530843 A A F9 Pathogenic missense rs387906481 chrX 139530846 G C F9 Pathogenic missense rs137852223 chrX 139537090 A T F9 Pathogenic stop-gained rs137852230 chrX 139541076 T G F9 Pathogenic missense rs137852231 chrX 139541085 G C F9 Pathogenic missense rs137852232 chrX 139541099 C G F9 Pathogenic missense rs137852233 chrX 139541114 G A F9 Pathogenic missense rs137852274 chrX 139541126 A A F9 Pathogenic missense rs137852234 chrX 139541127 T G F9 Pathogenic missense rs137852235 chrX 139548450 A C F9 Pathogenic intron-variant,missense rs387906477 chrX 139551082 T T F9 Pathogenic missense rs137852237 chrX 139551112 G T F9 Pathogenic missense rs137852238 chrX 139551113 T A F9 Pathogenic missense rs267606792 chrX 139560772 T C F9 Pathogenic missense rs137852246 chrX 139560821 G G F9 Pathogenic missense rs137852250 chrX 139561577 G T F9 Pathogenic stop-gained rs1801202 chrX 139561592 A T F9 Benign missense rs137852251 chrX 139561602 T G F9 Pathogenic missense rs137852252 chrX 139561683 T T F9 Pathogenic missense rs137852253 chrX 139561694 C C F9 Pathogenic missense rs137852254 chrX 139561710 G T F9 Pathogenic missense rs387906482 chrX 139561716 C C F9 Pathogenic missense rs387906479 chrX 139561773 G T F9 Pathogenic intron-variant,missense rs137852271 chrX 139561805 T T F9 Pathogenic intron-variant,missense rs137852258 chrX 139561820 G T F9 Pathogenic intron-variant,stop-gained rs137852260 chrX 139561829 G A,C F9 Pathogenic intron-variant,missense rs137852261 chrX 139561835 G T F9 Pathogenic intron-variant,stop-gained rs137852283 chrX 139561836 A C,T F9 Pathogenic intron-variant,missense rs137852262 chrX 139561865 T G F9 Pathogenic intron-variant,missense rs137852263 chrX 139561902 A T F9 Pathogenic intron-variant,missense rs137852280 chrX 139561941 G A F9 Pathogenic intron-variant,missense rs137852266 chrX 139561992 A A,T F9 Pathogenic intron-variant,missense rs45586631 chrX 140504452 T G SOX3 0.0218/35 Benign synonymous-codon rs25707 chrX 147928802 C A FMR1 0.0647/107 Benign nc-transcript-variant,synonymous-codon rs121434622 chrX 147936534 T A FMR1 Pathogenic missense,nc-transcript-variant rs199422228 chrX 149482894 A G IDS Pathogenic missense rs104894863 chrX 149482933 C G IDS Pathogenic missense rs104894862 chrX 149482935 A A IDS Pathogenic missense rs199422230 chrX 149482974 C T IDS Pathogenic stop-gained rs104894853 chrX 149490322 A A IDS Pathogenic missense,nc-transcript-variant,stop-gained rs104894860 chrX 149498301 A A IDS Pathogenic missense,nc-transcript-variant,stop-gained,synonymous-codon rs104894856 chrX 149500977 G C IDS Pathogenic missense,nc-transcript-variant rs1141608 chrX 149501018 G A IDS 0.2346/388 Benign nc-transcript-variant,synonymous-codon rs121909493 chrX 150470162 A T MAMLD1 Pathogenic stop-gained rs121909494 chrX 150470381 A T MAMLD1 Pathogenic stop-gained rs132630306 chrX 150641410 G T MTM1 Pathogenic stop-gained rs398123264 chrX 150649888 A G MTM1 Pathogenic stop-gained rs132630303 chrX 150657957 T G MTM1 Pathogenic missense rs398123272 chrX 150663610 T T MTM1 Pathogenic splice-donor-variant rs137853862 chrX 152858872 G A NSDHL Pathogenic missense rs104894905 chrX 152862632 A T NSDHL Pathogenic stop-gained rs122453116 chrX 153693361 T G SLC6A8 Pathogenic missense rs397515558 chrX 153694753 G T SLC6A8 Pathogenic missense rs137852523 chrX 153870948 T C L1CAM Pathogenic missense rs61751362 chrX 154030948 G A MECP2 Pathogenic missense,stop-gained,synonymous-codon rs61748392 chrX 154031418 C C MECP2 Pathogenic missense,utr-variant-5-prime rs140084263 chrX 154353600 T A FLNA 0.0067/10 Benign synonymous-codon rs28935471 chrX 154360319 C G FLNA Pathogenic missense rs2070820 chrX 154398551 G A SNORA70,RPL10 0.0260/43 Benign intron-variant,upstream-variant-2KB rs104894942 chrX 154413248 G A DNASE1L1,TAZ Pathogenic missense,nc-transcript-variant,upstream-variant-2KB,utr-variant-5-prime rs4834 chrX 154438830 G C GDI1 0.2461/406 Benign synonymous-codon rs121434607 chrX 154439027 G C GDI1 Pathogenic missense rs34193178 chrX 154532945 C G G6PD ?/0 Pathogenic missense rs137852327 chrX 154533122 C T G6PD Pathogenic missense rs398123552 chrX 154546058 T G G6PD,IKBKG Pathogenic intron-variant,missense,upstream-variant-2KB rs137853323 chrX 154552186 G T IKBKG Pathogenic stop-gained rs137853325 chrX 154564450 G C IKBKG Pathogenic intron-variant,missense rs137853326 chrX 154564451 C A,T IKBKG Pathogenic intron-variant,missense rs137854491 chrX 154765450 A A,G DKC1 Pathogenic missense,nc-transcript-variant rs121912293 chrX 154765465 T G DKC1 Pathogenic missense,nc-transcript-variant rs199422243 chrX 154765486 A G DKC1 Pathogenic missense,nc-transcript-variant rs121912301 chrX 154765929 G C DKC1 Pathogenic missense,nc-transcript-variant rs121912297 chrX 154765931 C G DKC1 Pathogenic missense,nc-transcript-variant rs199422244 chrX 154765935 A T DKC1 Pathogenic missense,nc-transcript-variant rs199422245 chrX 154765939 T A DKC1 Pathogenic missense,nc-transcript-variant rs199422247 chrX 154769306 T A DKC1 Pathogenic missense,nc-transcript-variant rs121912290 chrX 154770792 T G,T DKC1 Pathogenic missense,nc-transcript-variant rs2728726 chrX 154770804 T G,T DKC1 Pathogenic missense,nc-transcript-variant rs121912291 chrX 154770808 A A DKC1 Pathogenic missense,nc-transcript-variant rs121912288 chrX 154773152 G T DKC1,SNORA56 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs199422249 chrX 154773169 A A DKC1,SNORA56 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs199422252 chrX 154774602 C A DKC1,SNORA56 Pathogenic missense,nc-transcript-variant,upstream-variant-2KB rs137852474 chrX 154837685 G T F8 Pathogenic missense rs137852473 chrX 154837686 A A F8 Pathogenic missense rs137852471 chrX 154860467 A A F8 Pathogenic stop-gained rs1800297 chrX 154860563 T A,G F8 0.0750/124 Benign missense rs137852468 chrX 154861810 A G F8 Pathogenic missense rs137852365 chrX 154863103 A G F8 Pathogenic missense rs137852465 chrX 154863124 G A,T F8 Pathogenic missense rs137852464 chrX 154863125 A A F8 Pathogenic missense rs137852463 chrX 154863139 T A F8 Pathogenic missense rs137852462 chrX 154863142 G T F8 Pathogenic missense rs137852461 chrX 154863151 G T F8 Pathogenic missense rs137852357 chrX 154863161 A A F8 Pathogenic stop-gained rs137852460 chrX 154896093 A T F8 Pathogenic missense rs137852366 chrX 154896102 G G F8 Pathogenic missense rs137852356 chrX 154896103 A A F8 Pathogenic stop-gained rs137852457 chrX 154896228 C C F8 Pathogenic missense rs137852454 chrX 154902053 T C F8 Pathogenic missense rs137852453 chrX 154902120 C A F8 Pathogenic missense rs137852451 chrX 154903966 T A F8 Pathogenic missense rs137852450 chrX 154903968 C A F8 Pathogenic missense rs28937294 chrX 154904025 G A,T F8 Pathogenic missense rs137852363 chrX 154904026 A A F8 Pathogenic stop-gained rs28933682 chrX 154904082 T C F8 Pathogenic missense rs137852369 chrX 154904083 G C F8 Pathogenic missense rs137852448 chrX 154904434 T A F8 Pathogenic stop-gained rs28933677 chrX 154904839 C A F8 Pathogenic missense rs28933676 chrX 154904864 G G F8 Pathogenic missense rs28933675 chrX 154904867 T A F8 Pathogenic missense rs28933674 chrX 154904871 A T F8 Pathogenic missense rs137852446 chrX 154904954 A A F8 Pathogenic stop-gained rs137852445 chrX 154904975 G A F8 Pathogenic missense rs137852444 chrX 154904989 A T F8 Pathogenic missense rs137852442 chrX 154904998 G T F8 Pathogenic missense rs137852443 chrX 154904999 A A,C F8 Pathogenic missense rs28937287 chrX 154906470 A C F8 Pathogenic missense rs137852373 chrX 154928623 C T F8 Pathogenic missense rs2228152 chrX 154931407 G A,C F8 0.0024/4 Pathogenic stop-gained rs28937285 chrX 154931575 G T F8 Pathogenic missense,stop-gained rs137852436 chrX 154931623 G T F8 Pathogenic missense rs137852435 chrX 154931641 A A F8 Pathogenic missense rs137852433 chrX 154947823 C A F8 Pathogenic missense rs137852430 chrX 154947853 C G F8 Pathogenic missense rs137852431 chrX 154947854 C T F8 Pathogenic missense rs137852429 chrX 154953903 T C F8 Pathogenic missense rs137852427 chrX 154953981 A G F8 Pathogenic missense rs137852425 chrX 154953987 T A F8 Pathogenic missense rs137852424 chrX 154953991 G A F8 Pathogenic stop-gained rs137852422 chrX 154956959 G T F8 Pathogenic missense rs28937282 chrX 154956979 A A F8 Pathogenic missense rs387906446 chrX 154956980 T G F8 Pathogenic missense rs137852421 chrX 154956983 T A F8 Pathogenic stop-gained rs137852420 chrX 154957027 C C F8 Pathogenic missense rs137852419 chrX 154957049 A C F8 Pathogenic missense rs137852413 chrX 154961131 T G F8 Pathogenic missense rs111033616 chrX 154966065 T T F8 Pathogenic missense rs28933670 chrX 154966483 T C F8 Pathogenic missense rs28933668 chrX 154966522 A A,T F8 Pathogenic missense,stop-gained rs28933669 chrX 154966523 G G F8 Pathogenic missense rs28935499 chrX 154966525 G T F8 Pathogenic missense rs137852364 chrX 154966526 A A F8 Pathogenic missense rs137852406 chrX 154969400 A C F8 Pathogenic missense rs137852405 chrX 154969405 A G F8 Pathogenic missense rs137852404 chrX 154969417 A A F8 Pathogenic missense rs137852401 chrX 154969459 T A F8 Pathogenic missense rs137852359 chrX 154969468 C C F8 Pathogenic missense rs137852400 chrX 154969486 C C F8 Pathogenic missense rs137852397 chrX 154987237 T A F8 Pathogenic missense rs137852475 chrX 154992945 T C F8 Pathogenic missense rs137852393 chrX 154993044 A A F8 Pathogenic missense rs137852392 chrX 154993046 C A F8 Pathogenic missense rs137852390 chrX 154993133 C C F8 Pathogenic missense rs137852389 chrX 154993139 A C F8 Pathogenic missense rs137852386 chrX 154997011 G C F8 Pathogenic missense rs137852385 chrX 154997033 G C F8 Pathogenic missense rs137852384 chrX 154997038 T G F8 Pathogenic missense rs137852382 chrX 154997065 C T F8 Pathogenic missense rs137852380 chrX 154997095 C T F8 Pathogenic missense rs137852476 chrX 155022449 A C F8 Pathogenic missense rs137852377 chrX 155022476 G C F8 Pathogenic missense rs398122917 chrX 155280059 T C CLIC2 Pathogenic missense rs137852353 chrY 1290449 G A CSF2RA Pathogenic missense,nc-transcript-variant rs104894973 chrY 2787224 A A SRY Pathogenic missense rs104894966 chrY 2787267 C T SRY Pathogenic missense rs104894959 chrY 2787334 A C SRY Pathogenic missense rs104894971 chrY 2787551 T T SRY Pathogenic missense rs104894975 chrY 2787592 T T SRY Pathogenic stop-gained