|
NC_000001.11:g.11980166G>A
|
|
|
NC_000005.10:g.149063099G>A
|
|
|
NC_000006.12:g.109691284C>A
|
|
|
NC_000007.14:g.30594642G>A
|
|
|
NC_000007.14:g.30594727A>T
|
|
|
NC_000007.14:g.76302657C>T
|
|
|
NC_000008.11:g.133297281T>G
|
|
|
NC_000008.11:g.24956698G>C
|
|
|
NC_000008.11:g.24956763G>C
|
|
|
NC_000008.11:g.24956773G>C
|
|
|
NC_000012.12:g.109833410C>A
|
|
|
NC_000012.12:g.119178791C>G
|
|
|
NC_000012.12:g.119178894A>T
|
|
|
NC_000014.9:g.101964570C>T
|
|
|
NM_000166.6(GJB1):c.*117C>T
|
rs41307256 |
|
NM_000166.6(GJB1):c.*163G>T
|
rs139775308 |
|
NM_000166.6(GJB1):c.*22C>T
|
|
|
NM_000166.6(GJB1):c.*277A>G
|
|
|
NM_000166.6(GJB1):c.*309G>A
|
|
|
NM_000166.6(GJB1):c.*34C>A
|
rs113014279 |
|
NM_000166.6(GJB1):c.*402G>A
|
|
|
NM_000166.6(GJB1):c.*443G>A
|
|
|
NM_000166.6(GJB1):c.*50G>C
|
|
|
NM_000166.6(GJB1):c.-102G>A
|
|
|
NM_000166.6(GJB1):c.-128G>A
|
rs1057515983 |
|
NM_000166.6(GJB1):c.-17G>A
|
rs879254047 |
|
NM_000166.6(GJB1):c.-6G>A
|
rs201344743 |
|
NM_000166.6(GJB1):c.235C>T (p.Leu79=)
|
rs144717157 |
|
NM_000166.6(GJB1):c.271G>A (p.Val91Met)
|
rs756928158 |
|
NM_000166.6(GJB1):c.463C>A (p.Leu155Met)
|
rs1057515984 |
|
NM_000166.6(GJB1):c.507C>T (p.Asp169=)
|
rs373334326 |
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825 |
|
NM_000304.3(PMP22):c.-223C>T
|
rs549380262 |
|
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887 |
|
NM_000304.4(PMP22):c.*105_*109CAAAC[2]
|
rs112829799 |
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415 |
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383 |
|
NM_000304.4(PMP22):c.*173C>T
|
rs117277951 |
|
NM_000304.4(PMP22):c.*174G>A
|
|
|
NM_000304.4(PMP22):c.*200T>G
|
|
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097 |
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193 |
|
NM_000304.4(PMP22):c.*243C>T
|
rs533987307 |
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670 |
|
NM_000304.4(PMP22):c.*376C>T
|
|
|
NM_000304.4(PMP22):c.*3C>T
|
rs373690370 |
|
NM_000304.4(PMP22):c.*525_*526CT[1]
|
rs71699667 |
|
NM_000304.4(PMP22):c.*542C>T
|
rs184928176 |
|
NM_000304.4(PMP22):c.*544C>T
|
|
|
NM_000304.4(PMP22):c.*577T>C
|
rs7538 |
|
NM_000304.4(PMP22):c.*596G>T
|
|
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422 |
|
NM_000304.4(PMP22):c.*63A>C
|
|
|
NM_000304.4(PMP22):c.*818T>C
|
|
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027 |
|
NM_000304.4(PMP22):c.*890C>T
|
|
|
NM_000304.4(PMP22):c.*894C>T
|
|
|
NM_000304.4(PMP22):c.*907C>A
|
|
|
NM_000304.4(PMP22):c.*911C>T
|
|
|
NM_000304.4(PMP22):c.*912G>A
|
rs149070440 |
|
NM_000304.4(PMP22):c.*961C>G
|
|
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610 |
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424 |
|
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159 |
|
NM_000304.4(PMP22):c.-74A>G
|
rs114365663 |
|
NM_000304.4(PMP22):c.-86A>C
|
|
|
NM_000304.4(PMP22):c.178+7C>A
|
rs147885521 |
|
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
|
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
|
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619 |
|
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr)
|
rs141094419 |
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
|
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
|
|
NM_000304.4(PMP22):c.79-6C>T
|
rs201682989 |
|
NM_000399.5(EGR2):c.*145T>A
|
rs886047091 |
|
NM_000399.5(EGR2):c.*150A>G
|
|
|
NM_000399.5(EGR2):c.*230G>T
|
|
|
NM_000399.5(EGR2):c.*287T>A
|
rs61865883 |
|
NM_000399.5(EGR2):c.*288G>A
|
rs117395928 |
|
NM_000399.5(EGR2):c.*429G>A
|
rs114237833 |
|
NM_000399.5(EGR2):c.*456G>A
|
rs886047090 |
|
NM_000399.5(EGR2):c.*618T>C
|
|
|
NM_000399.5(EGR2):c.*646C>T
|
rs555024997 |
|
NM_000399.5(EGR2):c.*655G>A
|
rs886047089 |
|
NM_000399.5(EGR2):c.*79C>A
|
|
|
NM_000399.5(EGR2):c.*874A>G
|
rs61865882 |
|
NM_000399.5(EGR2):c.*919G>C
|
rs886047087 |
|
NM_000399.5(EGR2):c.-1A>G
|
rs553201646 |
|
NM_000399.5(EGR2):c.-299G>A
|
|
|
NM_000399.5(EGR2):c.-64A>C
|
|
|
NM_000399.5(EGR2):c.1086A>C (p.Arg362=)
|
rs45602133 |
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272 |
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092 |
|
NM_000399.5(EGR2):c.169+10G>T
|
rs114201658 |
|
NM_000399.5(EGR2):c.174C>T (p.Gly58=)
|
rs143793213 |
|
NM_000399.5(EGR2):c.192G>C (p.Met64Ile)
|
rs146631014 |
|
NM_000399.5(EGR2):c.246C>G (p.Val82=)
|
rs144217451 |
|
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro)
|
rs202183386 |
|
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095 |
|
NM_000399.5(EGR2):c.644C>T (p.Thr215Met)
|
rs139147487 |
|
NM_000399.5(EGR2):c.918C>T (p.Ala306=)
|
rs886047094 |
|
NM_000399.5(EGR2):c.924C>T (p.Ala308=)
|
rs886047093 |
|
NM_000530.8(MPZ):c.*1020G>A
|
rs886045472 |
|
NM_000530.8(MPZ):c.*102C>T
|
|
|
NM_000530.8(MPZ):c.*1048A>T
|
rs71639057 |
|
NM_000530.8(MPZ):c.*1074A>C
|
rs886045471 |
|
NM_000530.8(MPZ):c.*195G>T
|
rs150182811 |
|
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
|
NM_000530.8(MPZ):c.*341A>G
|
|
|
NM_000530.8(MPZ):c.*360C>G
|
|
|
NM_000530.8(MPZ):c.*369C>T
|
|
|
NM_000530.8(MPZ):c.*435T>G
|
|
|
NM_000530.8(MPZ):c.*522C>A
|
|
|
NM_000530.8(MPZ):c.*52G>A
|
rs774701563 |
|
NM_000530.8(MPZ):c.*568C>G
|
rs60731755 |
|
NM_000530.8(MPZ):c.*624C>T
|
rs60821801 |
|
NM_000530.8(MPZ):c.*681A>T
|
rs886045474 |
|
NM_000530.8(MPZ):c.*743C>T
|
rs140992541 |
|
NM_000530.8(MPZ):c.*752G>A
|
|
|
NM_000530.8(MPZ):c.*761A>G
|
rs16832786 |
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473 |
|
NM_000530.8(MPZ):c.*901_*902GA[7]
|
rs149030537 |
|
NM_000530.8(MPZ):c.*903G>A
|
|
|
NM_000530.8(MPZ):c.*954C>A
|
rs372340608 |
|
NM_000530.8(MPZ):c.-49C>A
|
rs750777955 |
|
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)
|
|
|
NM_000530.8(MPZ):c.200G>A (p.Arg67His)
|
rs201720099 |
|
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)
|
rs750724650 |
|
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)
|
|
|
NM_000530.8(MPZ):c.504G>A (p.Val168=)
|
rs145592910 |
|
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)
|
rs886045475 |
|
NM_000530.8(MPZ):c.600G>A (p.Gly200=)
|
rs16832790 |
|
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)
|
rs202176679 |
|
NM_000530.8(MPZ):c.684C>T (p.Ser228=)
|
rs34307129 |
|
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)
|
rs530923760 |
|
NM_001005360.2(DNM2):c.*106T>C
|
rs886054144 |
|
NM_001005360.2(DNM2):c.*10G>A
|
rs200188660 |
|
NM_001005360.2(DNM2):c.*14C>T
|
rs369529119 |
|
NM_001005360.2(DNM2):c.*166G>A
|
rs886054145 |
|
NM_001005360.2(DNM2):c.*22C>T
|
rs531170486 |
|
NM_001005360.2(DNM2):c.*268A>T
|
rs12461992 |
|
NM_001005360.2(DNM2):c.*35C>G
|
rs199700849 |
|
NM_001005360.2(DNM2):c.*385C>T
|
rs78160240 |
|
NM_001005360.2(DNM2):c.*386G>C
|
rs74952080 |
|
NM_001005360.2(DNM2):c.*391C>T
|
rs886054147 |
|
NM_001005360.2(DNM2):c.*453C>T
|
rs200104482 |
|
NM_001005360.2(DNM2):c.*47G>A
|
rs367938944 |
|
NM_001005360.2(DNM2):c.*550G>A
|
rs886054148 |
|
NM_001005360.2(DNM2):c.*601C>T
|
rs185820576 |
|
NM_001005360.2(DNM2):c.*607G>A
|
rs117954916 |
|
NM_001005360.2(DNM2):c.*711T>C
|
rs886054149 |
|
NM_001005360.2(DNM2):c.*79G>A
|
rs550692861 |
|
NM_001005360.2(DNM2):c.*82C>T
|
rs569502521 |
|
NM_001005360.2(DNM2):c.*88C>G
|
rs886054143 |
|
NM_001005360.2(DNM2):c.-122G>A
|
rs886054139 |
|
NM_001005360.2(DNM2):c.-153G>T
|
rs886054138 |
|
NM_001005360.2(DNM2):c.-19G>T
|
rs753599004 |
|
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216 |
|
NM_001005360.2(DNM2):c.1335+13C>T
|
rs150975494 |
|
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val)
|
rs770599060 |
|
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296 |
|
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500 |
|
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900 |
|
NM_001005360.2(DNM2):c.1423-12G>A
|
rs376753915 |
|
NM_001005360.2(DNM2):c.1423-9C>G
|
rs371006369 |
|
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140 |
|
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905 |
|
NM_001005360.2(DNM2):c.162-7C>A
|
rs148318860 |
|
NM_001005360.2(DNM2):c.162-9C>A
|
rs200736669 |
|
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881 |
|
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679 |
|
NM_001005360.2(DNM2):c.1782-11C>T
|
rs78580529 |
|
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919 |
|
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390 |
|
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660 |
|
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657 |
|
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326 |
|
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320 |
|
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138 |
|
NM_001005360.2(DNM2):c.235+12C>A
|
rs147026993 |
|
NM_001005360.2(DNM2):c.235+6A>G
|
rs113192269 |
|
NM_001005360.2(DNM2):c.236-8C>G
|
rs143084059 |
|
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687 |
|
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756 |
|
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382 |
|
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669 |
|
NM_001005360.2(DNM2):c.2543+7C>G
|
rs201979143 |
|
NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)
|
rs886054141 |
|
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val)
|
rs776073354 |
|
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590 |
|
NM_001005360.2(DNM2):c.450A>G (p.Pro150=)
|
rs766121627 |
|
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469 |
|
NM_001005360.2(DNM2):c.519T>C (p.Ala173=)
|
rs77702567 |
|
NM_001005360.2(DNM2):c.528C>T (p.Pro176=)
|
rs147579870 |
|
NM_001005360.2(DNM2):c.555C>T (p.Asp185=)
|
rs140788791 |
|
NM_001005360.2(DNM2):c.633C>T (p.Asp211=)
|
rs200191870 |
|
NM_001005360.2(DNM2):c.750A>G (p.Ala250=)
|
rs202214529 |
|
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674 |
|
NM_001005360.2(DNM2):c.882G>A (p.Pro294=)
|
rs144790170 |
|
NM_001005360.2(DNM2):c.890G>A (p.Arg297His)
|
rs763894364 |
|
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209 |
|
NM_001005361.3(DNM2):c.*185A>C
|
|
|
NM_001005361.3(DNM2):c.*214C>T
|
|
|
NM_001005361.3(DNM2):c.*321A>G
|
|
|
NM_001005361.3(DNM2):c.*373G>A
|
|
|
NM_001005361.3(DNM2):c.*379C>T
|
|
|
NM_001005361.3(DNM2):c.*671T>C
|
|
|
NM_001005361.3(DNM2):c.*716C>T
|
|
|
NM_001005361.3(DNM2):c.*751T>A
|
|
|
NM_001005361.3(DNM2):c.-116C>T
|
|
|
NM_001005361.3(DNM2):c.1196+710G>A
|
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
|
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
|
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
|
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103 |
|
NM_001005361.3(DNM2):c.1671+14G>A
|
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980 |
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
|
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920 |
|
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)
|
|
|
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)
|
|
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
|
|
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)
|
|
|
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)
|
|
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691 |
|
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)
|
|
|
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)
|
|
|
NM_001127660.1(MFN2):c.*1797_*1799GTT[1]
|
rs140537612 |
|
NM_001127660.1(MFN2):c.-214C>G
|
|
|
NM_001127660.1(MFN2):c.-237G>A
|
|
|
NM_001135242.2(NDRG1):c.64-6T>C
|
rs2272653 |
|
NM_001136473.1(LITAF):c.*1007G>A
|
rs535657236 |
|
NM_001136473.1(LITAF):c.*1029G>A
|
rs192766322 |
|
NM_001136473.1(LITAF):c.*1058C>T
|
rs75472256 |
|
NM_001136473.1(LITAF):c.*1074A>G
|
rs886051649 |
|
NM_001136473.1(LITAF):c.*116G>A
|
rs371453151 |
|
NM_001136473.1(LITAF):c.*1179A>C
|
|
|
NM_001136473.1(LITAF):c.*1295A>G
|
rs886051648 |
|
NM_001136473.1(LITAF):c.*1342A>C
|
|
|
NM_001136473.1(LITAF):c.*1376A>G
|
rs7102 |
|
NM_001136473.1(LITAF):c.*1489A>C
|
|
|
NM_001136473.1(LITAF):c.*1511G>A
|
|
|
NM_001136473.1(LITAF):c.*1524C>A
|
|
|
NM_001136473.1(LITAF):c.*1540C>A
|
rs80119580 |
|
NM_001136473.1(LITAF):c.*1547A>G
|
|
|
NM_001136473.1(LITAF):c.*1561T>G
|
|
|
NM_001136473.1(LITAF):c.*158G>A
|
|
|
NM_001136473.1(LITAF):c.*1618T>G
|
rs77423500 |
|
NM_001136473.1(LITAF):c.*1682C>A
|
rs886051647 |
|
NM_001136473.1(LITAF):c.*1752G>A
|
rs62022848 |
|
NM_001136473.1(LITAF):c.*1757C>G
|
|
|
NM_001136473.1(LITAF):c.*1978A>G
|
rs759832566 |
|
NM_001136473.1(LITAF):c.*2004A>G
|
|
|
NM_001136473.1(LITAF):c.*224C>T
|
rs149712652 |
|
NM_001136473.1(LITAF):c.*25C>T
|
rs201512884 |
|
NM_001136473.1(LITAF):c.*268C>T
|
rs1801977 |
|
NM_001136473.1(LITAF):c.*318G>A
|
rs886051652 |
|
NM_001136473.1(LITAF):c.*359C>A
|
|
|
NM_001136473.1(LITAF):c.*419A>T
|
rs886051651 |
|
NM_001136473.1(LITAF):c.*546C>T
|
rs13336723 |
|
NM_001136473.1(LITAF):c.*564G>A
|
rs13337025 |
|
NM_001136473.1(LITAF):c.*578C>A
|
rs192516633 |
|
NM_001136473.1(LITAF):c.*625A>G
|
|
|
NM_001136473.1(LITAF):c.*688A>C
|
|
|
NM_001136473.1(LITAF):c.*723G>A
|
rs367546754 |
|
NM_001136473.1(LITAF):c.*836G>T
|
rs117082330 |
|
NM_001136473.1(LITAF):c.*848A>G
|
rs886051650 |
|
NM_001136473.1(LITAF):c.*921T>C
|
rs1198 |
|
NM_001136473.1(LITAF):c.*941T>A
|
rs7187810 |
|
NM_001136473.1(LITAF):c.*96G>A
|
rs543022814 |
|
NM_001136473.1(LITAF):c.-6+513G>C
|
|
|
NM_001136473.1(LITAF):c.-6+539G>A
|
rs545189325 |
|
NM_001136473.1(LITAF):c.-6+558C>T
|
rs528624227 |
|
NM_001136473.1(LITAF):c.-6+594A>G
|
rs12921437 |
|
NM_001136473.1(LITAF):c.-6+618C>G
|
|
|
NM_001136473.1(LITAF):c.-6+657C>A
|
rs374282727 |
|
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr)
|
rs759905004 |
|
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met)
|
rs141862602 |
|
NM_001136473.1(LITAF):c.147G>A (p.Thr49=)
|
rs145659732 |
|
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala)
|
rs886051654 |
|
NM_001136473.1(LITAF):c.159G>A (p.Gly53=)
|
rs886051653 |
|
NM_001136473.1(LITAF):c.234G>A (p.Thr78=)
|
rs9282774 |
|
NM_001136473.1(LITAF):c.241G>A (p.Val81Met)
|
rs201653834 |
|
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val)
|
rs4280262 |
|
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
|
rs373445989 |
|
NM_001136473.1(LITAF):c.333C>T (p.Ala111=)
|
rs34448402 |
|
NM_001136473.1(LITAF):c.357C>T (p.Cys119=)
|
rs549492447 |
|
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
|
|
|
NM_001136473.1(LITAF):c.377+13C>G
|
rs200357430 |
|
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990 |
|
NM_001136473.1(LITAF):c.6G>A (p.Ser2=)
|
rs147187481 |
|
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479 |
|
NM_001243571.2(MTMR2):c.-404+13C>T
|
rs139510268 |
|
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln)
|
rs61735578 |
|
NM_001243571.2(MTMR2):c.354+11T>C
|
rs182582445 |
|
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=)
|
rs566204 |
|
NM_001282625.2(LMNA):c.-206-17C>T
|
|
|
NM_001304481.1(FGD4):c.112A>T (p.Ile38Leu)
|
rs886049253 |
|
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr)
|
rs199744649 |
|
NM_001316772.1(GARS1):c.-221C>T
|
rs886062271 |
|
NM_001316772.1(GARS1):c.-226C>T
|
|
|
NM_001316772.1(GARS1):c.-231T>A
|
rs527307703 |
|
NM_001316772.1(GARS1):c.-231T>G
|
|
|
NM_001316772.1(GARS1):c.-242C>T
|
rs886062270 |
|
NM_001316772.1(GARS1):c.-247C>A
|
|
|
NM_001316772.1(GARS1):c.-328T>G
|
|
|
NM_001316772.1(GARS1):c.-339T>C
|
rs78980639 |
|
NM_001316772.1(GARS1):c.-342G>C
|
|
|
NM_001362931.2(GDAP1):c.694+3856A>G
|
|
|
NM_001362931.2(GDAP1):c.694+3989C>T
|
|
|
NM_001362931.2(GDAP1):c.694+4016T>C
|
|
|
NM_001362931.2(GDAP1):c.694+4037T>C
|
rs886063119 |
|
NM_001376.4(DYNC1H1):c.-137C>T
|
rs886050367 |
|
NM_001376.5(DYNC1H1):c.*108G>A
|
rs886050378 |
|
NM_001376.5(DYNC1H1):c.*190A>G
|
rs13901 |
|
NM_001376.5(DYNC1H1):c.*194C>G
|
|
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862 |
|
NM_001376.5(DYNC1H1):c.*232C>T
|
rs17512996 |
|
NM_001376.5(DYNC1H1):c.*70T>C
|
|
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759 |
|
NM_001376.5(DYNC1H1):c.-53G>A
|
rs2273436 |
|
NM_001376.5(DYNC1H1):c.-5A>G
|
rs17511858 |
|
NM_001376.5(DYNC1H1):c.-90C>T
|
|
|
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)
|
rs80096622 |
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857 |
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128 |
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040 |
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947 |
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372 |
|
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=)
|
rs886050373 |
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882 |
|
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=)
|
rs886050374 |
|
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly)
|
|
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
|
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643 |
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756 |
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760 |
|
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=)
|
rs17541505 |
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706 |
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054 |
|
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg)
|
rs886050375 |
|
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr)
|
|
|
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=)
|
rs17512783 |
|
NM_001376.5(DYNC1H1):c.11460+12G>A
|
rs17512790 |
|
NM_001376.5(DYNC1H1):c.11460+4G>A
|
rs201518717 |
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835 |
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
|
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873 |
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
|
|
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
|
rs17541519 |
|
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu)
|
rs141696238 |
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
|
|
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
|
rs201174299 |
|
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)
|
rs138428684 |
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519 |
|
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)
|
rs10129889 |
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980 |
|
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)
|
rs115992196 |
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095 |
|
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
|
|
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220 |
|
NM_001376.5(DYNC1H1):c.12514-9C>A
|
rs74874468 |
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412 |
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795 |
|
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=)
|
rs529010293 |
|
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr)
|
rs886050376 |
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445 |
|
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)
|
rs13749 |
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609 |
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483 |
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
|
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075 |
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292 |
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055 |
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242 |
|
NM_001376.5(DYNC1H1):c.13219-9C>T
|
rs17541650 |
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
|
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479 |
|
NM_001376.5(DYNC1H1):c.13372+4C>T
|
rs17541657 |
|
NM_001376.5(DYNC1H1):c.13372+9G>A
|
rs1004903 |
|
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
|
rs150286673 |
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713 |
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469 |
|
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
|
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942 |
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942 |
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377 |
|
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=)
|
rs35079638 |
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834 |
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499 |
|
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)
|
rs138418906 |
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566 |
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810 |
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803 |
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694 |
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566 |
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184 |
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
|
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963 |
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
|
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
|
|
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)
|
rs17512054 |
|
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)
|
rs17512082 |
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295 |
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189 |
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
|
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298 |
|
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)
|
rs114021657 |
|
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=)
|
|
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
|
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844 |
|
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=)
|
rs144359313 |
|
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)
|
rs12893215 |
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422 |
|
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
|
|
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=)
|
rs34690489 |
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
|
|
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)
|
rs17540957 |
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
|
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200 |
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289 |
|
NM_001376.5(DYNC1H1):c.4395+2C>T
|
rs192594531 |
|
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=)
|
rs186932188 |
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
|
|
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)
|
rs2273437 |
|
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)
|
rs75094258 |
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996 |
|
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
|
rs117199211 |
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
|
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027 |
|
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile)
|
rs781664182 |
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368 |
|
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)
|
rs139919955 |
|
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
|
rs149395439 |
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853 |
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937 |
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
|
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090 |
|
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=)
|
|
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
|
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016 |
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480 |
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938 |
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
|
|
NM_001376.5(DYNC1H1):c.6221+13G>T
|
rs17541088 |
|
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)
|
rs3818188 |
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497 |
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369 |
|
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val)
|
|
|
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg)
|
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861 |
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
|
|
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser)
|
rs775274723 |
|
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)
|
rs17512439 |
|
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=)
|
rs376471830 |
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226 |
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154 |
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
|
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094 |
|
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
|
rs138407720 |
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530 |
|
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=)
|
rs117189734 |
|
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=)
|
rs139109090 |
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403 |
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
|
|
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)
|
rs17541158 |
|
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=)
|
rs17541165 |
|
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)
|
rs149581331 |
|
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)
|
rs17541179 |
|
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)
|
rs17512460 |
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139 |
|
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=)
|
rs77113510 |
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737 |
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029 |
|
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370 |
|
NM_001376.5(DYNC1H1):c.8886+13G>A
|
rs17541317 |
|
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)
|
rs8010870 |
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135 |
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
|
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
|
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296 |
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995 |
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762 |
|
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met)
|
|
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720 |
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350 |
|
NM_001540.4(HSPB1):c.-122G>T
|
rs553127513 |
|
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446 |
|
NM_001540.4(HSPB1):c.-46C>T
|
rs35907174 |
|
NM_001540.5(HSPB1):c.*116C>T
|
|
|
NM_001540.5(HSPB1):c.*11C>T
|
rs1058872 |
|
NM_001540.5(HSPB1):c.*22C>T
|
|
|
NM_001540.5(HSPB1):c.-19C>T
|
rs199602956 |
|
NM_001540.5(HSPB1):c.-4C>T
|
rs372833436 |
|
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
|
|
|
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser)
|
rs61751217 |
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653 |
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168 |
|
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro)
|
|
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668 |
|
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile)
|
rs765142574 |
|
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670 |
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768 |
|
NM_001540.5(HSPB1):c.365-7C>T
|
|
|
NM_001540.5(HSPB1):c.36G>T (p.Arg12=)
|
rs145369859 |
|
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg)
|
rs558882005 |
|
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
|
|
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753 |
|
NM_001540.5(HSPB1):c.501C>T (p.Ala167=)
|
rs529095936 |
|
NM_001540.5(HSPB1):c.60C>T (p.Arg20=)
|
|
|
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr)
|
rs367857772 |
|
NM_001540.5(HSPB1):c.615G>A (p.Lys205=)
|
|
|
NM_001605.2(AARS1):c.*169C>G
|
rs554221793 |
|
NM_001605.2(AARS1):c.*213C>T
|
rs150625194 |
|
NM_001605.2(AARS1):c.*251A>C
|
rs116553521 |
|
NM_001605.2(AARS1):c.*324G>A
|
rs141837805 |
|
NM_001605.2(AARS1):c.*74A>T
|
rs11537663 |
|
NM_001605.2(AARS1):c.-108T>C
|
rs779683414 |
|
NM_001605.2(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712 |
|
NM_001605.2(AARS1):c.1120A>G (p.Ile374Val)
|
rs142128800 |
|
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234 |
|
NM_001605.2(AARS1):c.1332G>A (p.Glu444=)
|
rs150442667 |
|
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688 |
|
NM_001605.2(AARS1):c.1410C>T (p.Ile470=)
|
rs79785372 |
|
NM_001605.2(AARS1):c.1428G>C (p.Arg476=)
|
rs80257731 |
|
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047 |
|
NM_001605.2(AARS1):c.1493-7T>C
|
rs376087556 |
|
NM_001605.2(AARS1):c.1509G>A (p.Val503=)
|
rs138406510 |
|
NM_001605.2(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255 |
|
NM_001605.2(AARS1):c.1596C>A (p.Thr532=)
|
rs142181559 |
|
NM_001605.2(AARS1):c.1611G>T (p.Glu537Asp)
|
rs371617479 |
|
NM_001605.2(AARS1):c.1671+10C>T
|
rs184240527 |
|
NM_001605.2(AARS1):c.1672-4T>A
|
rs187509039 |
|
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156 |
|
NM_001605.2(AARS1):c.1737C>T (p.Ile579=)
|
rs144323646 |
|
NM_001605.2(AARS1):c.1762C>T (p.Gln588Ter)
|
rs146946034 |
|
NM_001605.2(AARS1):c.1824G>A (p.Thr608=)
|
rs199644417 |
|
NM_001605.2(AARS1):c.1846C>T (p.Arg616Cys)
|
rs372221218 |
|
NM_001605.2(AARS1):c.2109G>C (p.Val703=)
|
rs777499923 |
|
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu)
|
rs754391789 |
|
NM_001605.2(AARS1):c.212A>G (p.Asn71Ser)
|
rs757167895 |
|
NM_001605.2(AARS1):c.2178-14G>A
|
rs371633904 |
|
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804 |
|
NM_001605.2(AARS1):c.2217C>T (p.Ile739=)
|
rs770980206 |
|
NM_001605.2(AARS1):c.2240A>G (p.Lys747Arg)
|
rs886052254 |
|
NM_001605.2(AARS1):c.2378G>C (p.Arg793Thr)
|
rs886052253 |
|
NM_001605.2(AARS1):c.2401-11A>G
|
rs377576408 |
|
NM_001605.2(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428 |
|
NM_001605.2(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762 |
|
NM_001605.2(AARS1):c.2521-3C>T
|
rs200586605 |
|
NM_001605.2(AARS1):c.2580G>A (p.Leu860=)
|
rs145581652 |
|
NM_001605.2(AARS1):c.2596G>A (p.Ala866Thr)
|
rs374478964 |
|
NM_001605.2(AARS1):c.2608-6C>A
|
rs200965527 |
|
NM_001605.2(AARS1):c.2700G>A (p.Thr900=)
|
rs140814462 |
|
NM_001605.2(AARS1):c.2715T>C (p.Val905=)
|
rs4081753 |
|
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330 |
|
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser)
|
rs149377346 |
|
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709 |
|
NM_001605.2(AARS1):c.333+3A>C
|
rs747431164 |
|
NM_001605.2(AARS1):c.342A>C (p.Ala114=)
|
rs190680402 |
|
NM_001605.2(AARS1):c.480-8T>G
|
rs751472610 |
|
NM_001605.2(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055 |
|
NM_001605.2(AARS1):c.561C>T (p.Cys187=)
|
rs78523270 |
|
NM_001605.2(AARS1):c.600C>T (p.Ala200=)
|
rs150080663 |
|
NM_001605.2(AARS1):c.63C>T (p.Asn21=)
|
rs773045737 |
|
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys)
|
rs151091410 |
|
NM_001605.2(AARS1):c.671+3A>G
|
rs74024185 |
|
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552 |
|
NM_001605.2(AARS1):c.741G>A (p.Leu247=)
|
rs148075561 |
|
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly)
|
rs769239545 |
|
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667 |
|
NM_001605.2(AARS1):c.903C>T (p.His301=)
|
rs2070203 |
|
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr)
|
rs576221121 |
|
NM_001605.2(AARS1):c.91A>G (p.Thr31Ala)
|
rs886052256 |
|
NM_001605.2(AARS1):c.962+15C>T
|
rs779150762 |
|
NM_001605.3(AARS1):c.*131G>A
|
|
|
NM_001605.3(AARS1):c.*141A>G
|
|
|
NM_001605.3(AARS1):c.*32T>C
|
|
|
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met)
|
rs762241422 |
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
|
|
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile)
|
|
|
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg)
|
|
|
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys)
|
|
|
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
|
|
|
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
|
|
|
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys)
|
|
|
NM_001605.3(AARS1):c.2592C>T (p.Ser864=)
|
rs11537665 |
|
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)
|
rs199839663 |
|
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)
|
rs147187788 |
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
|
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
|
|
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr)
|
|
|
NM_002047.3(GARS):c.-197G>C
|
rs886062269 |
|
NM_002047.3(GARS):c.-205C>T
|
rs17159262 |
|
NM_002047.3(GARS):c.-217A>G
|
rs2970504 |
|
NM_002047.3(GARS):c.-225G>A
|
rs148593022 |
|
NM_002047.3(GARS):c.-237A>C
|
rs540431164 |
|
NM_002047.3(GARS):c.-317G>A
|
rs116125961 |
|
NM_002047.4(GARS1):c.*145C>A
|
|
|
NM_002047.4(GARS1):c.*67C>G
|
rs142498676 |
|
NM_002047.4(GARS1):c.*73A>G
|
rs113598818 |
|
NM_002047.4(GARS1):c.-36C>A
|
rs531483802 |
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802 |
|
NM_002047.4(GARS1):c.1031+14T>G
|
rs189589556 |
|
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273 |
|
NM_002047.4(GARS1):c.1062T>C (p.Phe354=)
|
rs11553502 |
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850 |
|
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
|
|
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln)
|
rs17159287 |
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
|
|
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu)
|
rs62636572 |
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402 |
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
|
|
NM_002047.4(GARS1):c.1420C>A (p.Arg474=)
|
rs113958280 |
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144 |
|
NM_002047.4(GARS1):c.1613+9T>C
|
rs75855065 |
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647 |
|
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
|
|
NM_002047.4(GARS1):c.1716G>A (p.Pro572=)
|
rs370608239 |
|
NM_002047.4(GARS1):c.1761G>A (p.Thr587=)
|
rs3886641 |
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
|
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730 |
|
NM_002047.4(GARS1):c.1833T>C (p.Val611=)
|
rs14270 |
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731 |
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046 |
|
NM_002047.4(GARS1):c.1962C>T (p.Ile654=)
|
rs201927627 |
|
NM_002047.4(GARS1):c.2095-6C>T
|
rs2240401 |
|
NM_002047.4(GARS1):c.2145A>G (p.Thr715=)
|
rs4593 |
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274 |
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337 |
|
NM_002047.4(GARS1):c.222+5C>T
|
rs2072236 |
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578 |
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799 |
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429 |
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272 |
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628 |
|
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136 |
|
NM_002047.4(GARS1):c.699C>T (p.Val233=)
|
rs187937286 |
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652 |
|
NM_002047.4(GARS1):c.747T>C (p.Tyr249=)
|
rs7808770 |
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968 |
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520 |
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681 |
|
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile)
|
rs2230310 |
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850 |
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649 |
|
NM_002047.4(GARS1):c.93G>C (p.Leu31=)
|
rs2529438 |
|
NM_003001.3(SDHC):c.-38G>A
|
rs112556972 |
|
NM_003001.3(SDHC):c.20+11_20+12dup
|
rs35215598 |
|
NM_003680.3(YARS1):c.*138G>A
|
rs41265857 |
|
NM_003680.3(YARS1):c.*21C>A
|
rs149812692 |
|
NM_003680.3(YARS1):c.*284A>G
|
rs150690731 |
|
NM_003680.3(YARS1):c.*293A>G
|
rs16866009 |
|
NM_003680.3(YARS1):c.*369G>A
|
rs879511403 |
|
NM_003680.3(YARS1):c.*386G>T
|
rs144131403 |
|
NM_003680.3(YARS1):c.*399G>A
|
rs890588915 |
|
NM_003680.3(YARS1):c.*439T>C
|
rs184249741 |
|
NM_003680.3(YARS1):c.*539A>G
|
rs550239801 |
|
NM_003680.3(YARS1):c.*599A>C
|
rs542816112 |
|
NM_003680.3(YARS1):c.*680A>G
|
rs536402126 |
|
NM_003680.3(YARS1):c.*681T>G
|
rs78319035 |
|
NM_003680.3(YARS1):c.*724T>C
|
rs950577466 |
|
NM_003680.3(YARS1):c.-110G>A
|
rs748353138 |
|
NM_003680.3(YARS1):c.-129C>A
|
|
|
NM_003680.3(YARS1):c.-157G>A
|
|
|
NM_003680.3(YARS1):c.-167T>A
|
rs1057515514 |
|
NM_003680.3(YARS1):c.-188G>T
|
|
|
NM_003680.3(YARS1):c.-245T>C
|
|
|
NM_003680.3(YARS1):c.-260G>A
|
|
|
NM_003680.3(YARS1):c.-269C>T
|
rs772899682 |
|
NM_003680.3(YARS1):c.-283G>A
|
rs113748028 |
|
NM_003680.3(YARS1):c.-333C>T
|
rs1057515442 |
|
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr)
|
rs141323599 |
|
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
|
rs752514117 |
|
NM_003680.3(YARS1):c.1141-9C>G
|
rs761211081 |
|
NM_003680.3(YARS1):c.1218G>C (p.Leu406=)
|
rs699005 |
|
NM_003680.3(YARS1):c.1228G>A (p.Val410Met)
|
rs146393022 |
|
NM_003680.3(YARS1):c.1275C>T (p.Asn425=)
|
rs778718842 |
|
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu)
|
rs149620809 |
|
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
|
|
|
NM_003680.3(YARS1):c.1374G>A (p.Pro458=)
|
rs151227410 |
|
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr)
|
rs778099655 |
|
NM_003680.3(YARS1):c.391C>T (p.Leu131=)
|
rs759430430 |
|
NM_003680.3(YARS1):c.415G>A (p.Val139Met)
|
rs772729857 |
|
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
|
|
|
NM_003680.3(YARS1):c.511-14G>A
|
rs1057515513 |
|
NM_003680.3(YARS1):c.52C>T (p.Leu18=)
|
rs147538442 |
|
NM_003680.3(YARS1):c.57+14G>T
|
rs72654020 |
|
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
|
|
|
NM_003680.3(YARS1):c.60G>A (p.Glu20=)
|
rs143712443 |
|
NM_003680.3(YARS1):c.684+3A>G
|
rs375332060 |
|
NM_003680.3(YARS1):c.685-11A>G
|
rs751943571 |
|
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165 |
|
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr)
|
rs138454151 |
|
NM_004637.5(RAB7A):c.*1029A>G
|
rs776759455 |
|
NM_004637.5(RAB7A):c.*1142G>A
|
rs747470481 |
|
NM_004637.5(RAB7A):c.*1161C>T
|
rs886057952 |
|
NM_004637.5(RAB7A):c.*1301A>G
|
rs182528613 |
|
NM_004637.5(RAB7A):c.*1374G>A
|
rs539522952 |
|
NM_004637.5(RAB7A):c.*163T>G
|
rs182521602 |
|
NM_004637.5(RAB7A):c.*165A>T
|
rs886057942 |
|
NM_004637.5(RAB7A):c.*181G>A
|
rs3206306 |
|
NM_004637.5(RAB7A):c.*183A>G
|
rs774054837 |
|
NM_004637.5(RAB7A):c.*189A>G
|
rs11549750 |
|
NM_004637.5(RAB7A):c.*206G>A
|
rs16851333 |
|
NM_004637.5(RAB7A):c.*473G>C
|
rs886057945 |
|
NM_004637.5(RAB7A):c.*625T>C
|
rs545004919 |
|
NM_004637.5(RAB7A):c.*700C>T
|
rs886057946 |
|
NM_004637.5(RAB7A):c.*702T>G
|
rs886057947 |
|
NM_004637.5(RAB7A):c.*85A>G
|
rs549333234 |
|
NM_004637.5(RAB7A):c.*863C>G
|
rs59753334 |
|
NM_004637.5(RAB7A):c.*922A>G
|
rs886057949 |
|
NM_004637.5(RAB7A):c.*929A>T
|
rs886057950 |
|
NM_004637.5(RAB7A):c.*997T>C
|
rs3755593 |
|
NM_004637.5(RAB7A):c.*997T>G
|
rs3755593 |
|
NM_004637.5(RAB7A):c.-115C>T
|
rs374777610 |
|
NM_004637.5(RAB7A):c.-154G>A
|
rs886057939 |
|
NM_004637.5(RAB7A):c.-18A>G
|
rs886057941 |
|
NM_004637.5(RAB7A):c.-204G>T
|
rs886057938 |
|
NM_004637.5(RAB7A):c.-215C>T
|
rs560785742 |
|
NM_004637.5(RAB7A):c.-29G>T
|
rs112000804 |
|
NM_004637.5(RAB7A):c.-97C>G
|
rs141622970 |
|
NM_004637.5(RAB7A):c.219C>T (p.Leu73=)
|
rs4548 |
|
NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser)
|
rs11549756 |
|
NM_004637.5(RAB7A):c.423C>G (p.Ala141=)
|
rs61758751 |
|
NM_004637.5(RAB7A):c.495G>A (p.Ala165=)
|
rs146566121 |
|
NM_004637.5(RAB7A):c.552C>T (p.Asn184=)
|
rs143140848 |
|
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945 |
|
NM_004637.5(RAB7A):c.87G>A (p.Val29=)
|
rs145441548 |
|
NM_004637.6(RAB7A):c.*1026G>A
|
|
|
NM_004637.6(RAB7A):c.*1079C>T
|
|
|
NM_004637.6(RAB7A):c.*1141C>T
|
|
|
NM_004637.6(RAB7A):c.*1219C>T
|
|
|
NM_004637.6(RAB7A):c.*1343C>T
|
|
|
NM_004637.6(RAB7A):c.*1344G>A
|
|
|
NM_004637.6(RAB7A):c.*229C>T
|
|
|
NM_004637.6(RAB7A):c.*274G>A
|
|
|
NM_004637.6(RAB7A):c.*317A>G
|
|
|
NM_004637.6(RAB7A):c.*402T>A
|
|
|
NM_004637.6(RAB7A):c.*819C>A
|
|
|
NM_004637.6(RAB7A):c.*831A>G
|
|
|
NM_004637.6(RAB7A):c.*846A>G
|
|
|
NM_004637.6(RAB7A):c.*908A>C
|
|
|
NM_004637.6(RAB7A):c.*956G>A
|
|
|
NM_004637.6(RAB7A):c.*974A>G
|
|
|
NM_004637.6(RAB7A):c.*989C>G
|
|
|
NM_004637.6(RAB7A):c.-146G>C
|
|
|
NM_004637.6(RAB7A):c.-61G>A
|
|
|
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
|
|
|
NM_004637.6(RAB7A):c.54-15T>C
|
|
|
NM_005572.3(LMNA):c.-210T>C
|
rs886045356 |
|
NM_005572.3(LMNA):c.-226C>T
|
rs886045354 |
|
NM_006096.3(NDRG1):c.*100G>A
|
rs2233348 |
|
NM_006096.3(NDRG1):c.*1135G>A
|
rs10675 |
|
NM_006096.3(NDRG1):c.*1195G>T
|
rs561506934 |
|
NM_006096.3(NDRG1):c.*1294T>C
|
rs144034977 |
|
NM_006096.3(NDRG1):c.*1296C>T
|
rs886062711 |
|
NM_006096.3(NDRG1):c.*1340G>A
|
rs12668 |
|
NM_006096.3(NDRG1):c.*1473G>A
|
rs187466317 |
|
NM_006096.3(NDRG1):c.*1622T>G
|
rs7825439 |
|
NM_006096.3(NDRG1):c.*1706G>A
|
rs781277187 |
|
NM_006096.3(NDRG1):c.*184G>A
|
rs778104868 |
|
NM_006096.3(NDRG1):c.*201A>T
|
rs886062715 |
|
NM_006096.3(NDRG1):c.*264C>G
|
rs73711834 |
|
NM_006096.3(NDRG1):c.*2C>T
|
rs200367524 |
|
NM_006096.3(NDRG1):c.*306C>T
|
rs886062714 |
|
NM_006096.3(NDRG1):c.*402C>T
|
rs551081194 |
|
NM_006096.3(NDRG1):c.*618T>G
|
rs886062713 |
|
NM_006096.3(NDRG1):c.*653T>C
|
rs147301529 |
|
NM_006096.3(NDRG1):c.*677C>T
|
rs886062712 |
|
NM_006096.3(NDRG1):c.*691G>A
|
rs1049694 |
|
NM_006096.3(NDRG1):c.*69C>T
|
rs114738844 |
|
NM_006096.3(NDRG1):c.*711C>T
|
rs16904866 |
|
NM_006096.3(NDRG1):c.*834T>A
|
rs79281324 |
|
NM_006096.3(NDRG1):c.*866A>T
|
rs16904865 |
|
NM_006096.3(NDRG1):c.*956T>C
|
rs1049697 |
|
NM_006096.3(NDRG1):c.-120C>T
|
rs11575971 |
|
NM_006096.3(NDRG1):c.-123T>G
|
rs886062718 |
|
NM_006096.3(NDRG1):c.-128C>T
|
rs886062719 |
|
NM_006096.3(NDRG1):c.-157C>T
|
rs545130040 |
|
NM_006096.3(NDRG1):c.-173G>A
|
rs886062720 |
|
NM_006096.3(NDRG1):c.-19+14C>G
|
rs886062716 |
|
NM_006096.3(NDRG1):c.-64G>A
|
rs886062717 |
|
NM_006096.3(NDRG1):c.-8G>A
|
rs200465804 |
|
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys)
|
rs146613168 |
|
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His)
|
rs144714216 |
|
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970 |
|
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205 |
|
NM_006096.3(NDRG1):c.196G>A (p.Gly66Ser)
|
rs780329667 |
|
NM_006096.3(NDRG1):c.199A>G (p.Met67Val)
|
rs2233319 |
|
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser)
|
rs200433822 |
|
NM_006096.3(NDRG1):c.306C>T (p.Gly102=)
|
rs2233322 |
|
NM_006096.3(NDRG1):c.307G>C (p.Ala103Pro)
|
rs374160497 |
|
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479 |
|
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu)
|
rs2233328 |
|
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile)
|
rs200593999 |
|
NM_006096.3(NDRG1):c.507G>A (p.Ala169=)
|
rs2233331 |
|
NM_006096.3(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702 |
|
NM_006096.3(NDRG1):c.63+6T>C
|
rs199597649 |
|
NM_006096.3(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752 |
|
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser)
|
rs199995009 |
|
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser)
|
rs137993172 |
|
NM_006096.3(NDRG1):c.755+10T>C
|
rs2233336 |
|
NM_006096.3(NDRG1):c.756-5C>T
|
rs2227262 |
|
NM_006096.3(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062 |
|
NM_006096.3(NDRG1):c.855+14_855+15del
|
rs780070007 |
|
NM_006096.3(NDRG1):c.892-5C>T
|
rs2233346 |
|
NM_006096.3(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370 |
|
NM_006096.3(NDRG1):c.944-13C>T
|
rs753312340 |
|
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746 |
|
NM_006096.4(NDRG1):c.*1179G>C
|
|
|
NM_006096.4(NDRG1):c.*1299C>T
|
|
|
NM_006096.4(NDRG1):c.*1300G>C
|
|
|
NM_006096.4(NDRG1):c.*1339C>T
|
|
|
NM_006096.4(NDRG1):c.*1361C>A
|
|
|
NM_006096.4(NDRG1):c.*1621C>T
|
|
|
NM_006096.4(NDRG1):c.*228G>A
|
|
|
NM_006096.4(NDRG1):c.*308C>T
|
|
|
NM_006096.4(NDRG1):c.*31T>G
|
|
|
NM_006096.4(NDRG1):c.*377G>A
|
|
|
NM_006096.4(NDRG1):c.*392G>A
|
|
|
NM_006096.4(NDRG1):c.*403G>A
|
|
|
NM_006096.4(NDRG1):c.*48C>A
|
|
|
NM_006096.4(NDRG1):c.*525G>A
|
|
|
NM_006096.4(NDRG1):c.*791C>T
|
|
|
NM_006096.4(NDRG1):c.*854G>A
|
|
|
NM_006096.4(NDRG1):c.*91G>A
|
|
|
NM_006096.4(NDRG1):c.-99A>G
|
|
|
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile)
|
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
|
|
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys)
|
|
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
|
|
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr)
|
|
|
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu)
|
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527 |
|
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys)
|
|
|
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
|
|
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702 |
|
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
|
|
|
NM_006096.4(NDRG1):c.64-20dup
|
rs756038946 |
|
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile)
|
rs745520295 |
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
|
|
NM_006158.4(NEFL):c.*101A>G
|
rs34505194 |
|
NM_006158.4(NEFL):c.*1342A>G
|
rs886062830 |
|
NM_006158.4(NEFL):c.*1344G>A
|
rs79034217 |
|
NM_006158.4(NEFL):c.*1349T>G
|
rs886062828 |
|
NM_006158.4(NEFL):c.*1482C>T
|
rs886062827 |
|
NM_006158.4(NEFL):c.*171C>G
|
rs886062834 |
|
NM_006158.4(NEFL):c.*1744T>C
|
rs886062825 |
|
NM_006158.4(NEFL):c.*1806T>C
|
rs192937928 |
|
NM_006158.4(NEFL):c.*244A>G
|
rs78869168 |
|
NM_006158.4(NEFL):c.*486T>G
|
rs562682645 |
|
NM_006158.4(NEFL):c.*51A>G
|
rs538082598 |
|
NM_006158.4(NEFL):c.*577T>C
|
rs886062832 |
|
NM_006158.4(NEFL):c.*82T>A
|
rs148654058 |
|
NM_006158.4(NEFL):c.*856T>C
|
rs886062831 |
|
NM_006158.4(NEFL):c.*878A>G
|
rs189452316 |
|
NM_006158.4(NEFL):c.-176C>A
|
rs2979688 |
|
NM_006158.4(NEFL):c.-68T>A
|
rs886062836 |
|
NM_006158.4(NEFL):c.1212C>T (p.Ser404=)
|
rs60547413 |
|
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=)
|
rs140532785 |
|
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321 |
|
NM_006158.4(NEFL):c.141G>A (p.Val47=)
|
rs886062835 |
|
NM_006158.4(NEFL):c.227T>C (p.Val76Ala)
|
rs58907919 |
|
NM_006158.4(NEFL):c.45G>A (p.Lys15=)
|
rs62636518 |
|
NM_006158.4(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522 |
|
NM_006158.5(NEFL):c.*1101G>A
|
|
|
NM_006158.5(NEFL):c.*1153T>G
|
|
|
NM_006158.5(NEFL):c.*1293A>G
|
|
|
NM_006158.5(NEFL):c.*1383C>T
|
|
|
NM_006158.5(NEFL):c.*1464A>G
|
|
|
NM_006158.5(NEFL):c.*436T>G
|
|
|
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
|
|
|
NM_006158.5(NEFL):c.1407G>A (p.Glu469=)
|
rs543609297 |
|
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
|
|
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
|
|
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
|
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
|
|
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
|
|
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
|
|
NM_006158.5(NEFL):c.717G>A (p.Gln239=)
|
|
|
NM_006329.3(FBLN5):c.*121C>T
|
|
|
NM_006329.3(FBLN5):c.*326G>A
|
rs79375113 |
|
NM_006329.3(FBLN5):c.*329T>C
|
rs115237925 |
|
NM_006329.3(FBLN5):c.*363C>T
|
rs536827304 |
|
NM_006329.3(FBLN5):c.*419G>C
|
|
|
NM_006329.3(FBLN5):c.*423T>C
|
rs17731705 |
|
NM_006329.3(FBLN5):c.*426C>T
|
|
|
NM_006329.3(FBLN5):c.*458T>C
|
rs886050887 |
|
NM_006329.3(FBLN5):c.*514A>G
|
rs17804735 |
|
NM_006329.3(FBLN5):c.*623A>T
|
rs77357345 |
|
NM_006329.3(FBLN5):c.*647C>T
|
rs10197 |
|
NM_006329.3(FBLN5):c.*648G>A
|
rs182435130 |
|
NM_006329.3(FBLN5):c.*653G>A
|
rs886050886 |
|
NM_006329.3(FBLN5):c.*775A>C
|
rs886050885 |
|
NM_006329.3(FBLN5):c.*77T>A
|
|
|
NM_006329.3(FBLN5):c.*98G>A
|
rs568348723 |
|
NM_006329.3(FBLN5):c.-139C>T
|
rs554315938 |
|
NM_006329.3(FBLN5):c.-152C>T
|
rs139387007 |
|
NM_006329.3(FBLN5):c.-382C>G
|
rs886050890 |
|
NM_006329.3(FBLN5):c.-389C>A
|
rs886050891 |
|
NM_006329.3(FBLN5):c.-411A>G
|
rs143296045 |
|
NM_006329.3(FBLN5):c.-413C>T
|
rs886050892 |
|
NM_006329.3(FBLN5):c.-414C>T
|
rs7149187 |
|
NM_006329.3(FBLN5):c.-428G>C
|
rs886050893 |
|
NM_006329.3(FBLN5):c.-458G>A
|
rs369441736 |
|
NM_006329.3(FBLN5):c.-57G>A
|
rs546827390 |
|
NM_006329.3(FBLN5):c.-77C>G
|
|
|
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073 |
|
NM_006329.3(FBLN5):c.1063G>C (p.Val355Leu)
|
|
|
NM_006329.3(FBLN5):c.1113G>A (p.Thr371=)
|
rs560780691 |
|
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=)
|
rs145515678 |
|
NM_006329.3(FBLN5):c.1191G>A (p.Thr397=)
|
rs148660796 |
|
NM_006329.3(FBLN5):c.124+8C>A
|
|
|
NM_006329.3(FBLN5):c.1241G>A (p.Arg414Gln)
|
|
|
NM_006329.3(FBLN5):c.251A>G (p.Tyr84Cys)
|
rs886050889 |
|
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844 |
|
NM_006329.3(FBLN5):c.273G>A (p.Pro91=)
|
|
|
NM_006329.3(FBLN5):c.336A>G (p.Ile112Met)
|
|
|
NM_006329.3(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479 |
|
NM_006329.3(FBLN5):c.388G>A (p.Glu130Lys)
|
rs886050888 |
|
NM_006329.3(FBLN5):c.502+15G>C
|
rs190933127 |
|
NM_006329.3(FBLN5):c.573A>G (p.Thr191=)
|
|
|
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765 |
|
NM_006329.3(FBLN5):c.620-8T>C
|
rs147699855 |
|
NM_006329.3(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859 |
|
NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805 |
|
NM_006329.3(FBLN5):c.714T>A (p.Leu238=)
|
rs141152607 |
|
NM_006329.3(FBLN5):c.726C>G (p.Gly242=)
|
|
|
NM_006329.3(FBLN5):c.862+12C>T
|
rs202088447 |
|
NM_006329.3(FBLN5):c.863-13C>T
|
rs74071606 |
|
NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)
|
|
|
NM_006329.3(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347 |
|
NM_006329.3(FBLN5):c.989+13G>A
|
rs74071605 |
|
NM_006329.3(FBLN5):c.989+9C>T
|
rs557362799 |
|
NM_014365.2(HSPB8):c.*440C>G
|
rs13378054 |
|
NM_014365.2(HSPB8):c.*504T>C
|
rs886049027 |
|
NM_014365.2(HSPB8):c.*581G>A
|
rs56754798 |
|
NM_014365.2(HSPB8):c.*616C>G
|
rs6413487 |
|
NM_014365.2(HSPB8):c.*616C>T
|
rs6413487 |
|
NM_014365.2(HSPB8):c.*644A>G
|
rs11038 |
|
NM_014365.2(HSPB8):c.*648A>G
|
rs770364674 |
|
NM_014365.2(HSPB8):c.*67T>G
|
rs886049026 |
|
NM_014365.2(HSPB8):c.*684G>A
|
rs1133026 |
|
NM_014365.2(HSPB8):c.*803T>C
|
rs886049029 |
|
NM_014365.2(HSPB8):c.-172G>C
|
rs886049025 |
|
NM_014365.2(HSPB8):c.-193T>C
|
rs11549401 |
|
NM_014365.2(HSPB8):c.-201G>T
|
rs764259720 |
|
NM_014365.2(HSPB8):c.-314T>C
|
rs754447057 |
|
NM_014365.2(HSPB8):c.-457A>G
|
rs564088535 |
|
NM_014365.2(HSPB8):c.-480C>G
|
rs886049024 |
|
NM_014365.2(HSPB8):c.-489G>A
|
rs886049023 |
|
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
|
rs146900850 |
|
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713 |
|
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818 |
|
NM_014365.2(HSPB8):c.402T>C (p.Ile134=)
|
rs56323028 |
|
NM_014365.2(HSPB8):c.432-10T>A
|
rs368810689 |
|
NM_014365.2(HSPB8):c.48G>A (p.Leu16=)
|
rs755586270 |
|
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935 |
|
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln)
|
rs74740454 |
|
NM_014365.2(HSPB8):c.552C>T (p.Asn184=)
|
rs112052602 |
|
NM_014365.2(HSPB8):c.582C>T (p.Thr194=)
|
rs4628742 |
|
NM_014365.3(HSPB8):c.*123G>A
|
|
|
NM_014365.3(HSPB8):c.*330A>T
|
|
|
NM_014365.3(HSPB8):c.*788C>T
|
|
|
NM_014365.3(HSPB8):c.*860T>C
|
|
|
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys)
|
|
|
NM_014845.5(FIG4):c.*120C>T
|
rs1127775 |
|
NM_014845.5(FIG4):c.*14C>T
|
rs114136062 |
|
NM_014845.5(FIG4):c.*150_*151del
|
rs886060986 |
|
NM_014845.5(FIG4):c.*29G>A
|
rs10659 |
|
NM_014845.5(FIG4):c.*7C>T
|
rs113946190 |
|
NM_014845.5(FIG4):c.-112G>A
|
rs757848529 |
|
NM_014845.5(FIG4):c.-120C>T
|
rs75045314 |
|
NM_014845.5(FIG4):c.-121G>A
|
rs75509752 |
|
NM_014845.5(FIG4):c.-124A>G
|
rs544958043 |
|
NM_014845.5(FIG4):c.-132A>G
|
rs548471516 |
|
NM_014845.5(FIG4):c.-134C>G
|
rs560811735 |
|
NM_014845.5(FIG4):c.-138T>C
|
rs550585093 |
|
NM_014845.5(FIG4):c.-182G>A
|
rs55873083 |
|
NM_014845.5(FIG4):c.-84A>G
|
rs764845399 |
|
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837 |
|
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871 |
|
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287 |
|
NM_014845.5(FIG4):c.1242T>C (p.Ile414=)
|
rs61729087 |
|
NM_014845.5(FIG4):c.1271+5A>G
|
rs374583399 |
|
NM_014845.5(FIG4):c.1272-10C>G
|
rs201293291 |
|
NM_014845.5(FIG4):c.1584-8T>A
|
rs199522051 |
|
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys)
|
rs145337669 |
|
NM_014845.5(FIG4):c.1793T>A (p.Phe598Tyr)
|
rs751399063 |
|
NM_014845.5(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761 |
|
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys)
|
rs150301327 |
|
NM_014845.5(FIG4):c.1948+3A>G
|
rs10499054 |
|
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672 |
|
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)
|
rs540674198 |
|
NM_014845.5(FIG4):c.2096G>A (p.Arg699His)
|
rs750091928 |
|
NM_014845.5(FIG4):c.2097-10C>G
|
rs142482745 |
|
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619 |
|
NM_014845.5(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139 |
|
NM_014845.5(FIG4):c.235G>A (p.Gly79Arg)
|
rs886060982 |
|
NM_014845.5(FIG4):c.243A>G (p.Lys81=)
|
rs200257799 |
|
NM_014845.5(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984 |
|
NM_014845.5(FIG4):c.2547-11A>G
|
rs745613994 |
|
NM_014845.5(FIG4):c.2547-4A>G
|
rs886060985 |
|
NM_014845.5(FIG4):c.2547-5T>G
|
rs200267243 |
|
NM_014845.5(FIG4):c.2559G>A (p.Ser853=)
|
rs1127771 |
|
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu)
|
rs200970494 |
|
NM_014845.5(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056 |
|
NM_014845.5(FIG4):c.27C>T (p.Ile9=)
|
rs141040807 |
|
NM_014845.5(FIG4):c.33G>C (p.Ser11=)
|
rs527523781 |
|
NM_014845.5(FIG4):c.350C>T (p.Ala117Val)
|
rs551339249 |
|
NM_014845.5(FIG4):c.446+9G>A
|
rs190287033 |
|
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339 |
|
NM_014845.5(FIG4):c.66+10C>T
|
rs200063827 |
|
NM_014845.5(FIG4):c.67-7T>C
|
rs56378532 |
|
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala)
|
rs61729092 |
|
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706 |
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
|
|
NM_014845.6(FIG4):c.1889+9C>T
|
|
|
NM_014845.6(FIG4):c.2096+3A>G
|
|
|
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met)
|
|
|
NM_014845.6(FIG4):c.2546+5G>C
|
|
|
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu)
|
rs201375273 |
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
|
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937 |
|
NM_014874.3(MFN2):c.*1068C>T
|
rs886045229 |
|
NM_014874.3(MFN2):c.*1100A>G
|
rs41278638 |
|
NM_014874.3(MFN2):c.*1153C>T
|
rs542684406 |
|
NM_014874.3(MFN2):c.*1161C>A
|
rs115706485 |
|
NM_014874.3(MFN2):c.*121A>G
|
rs886045222 |
|
NM_014874.3(MFN2):c.*1258G>A
|
rs116156978 |
|
NM_014874.3(MFN2):c.*1276G>A
|
rs766342161 |
|
NM_014874.3(MFN2):c.*1295G>A
|
rs763783578 |
|
NM_014874.3(MFN2):c.*1392A>G
|
rs886045230 |
|
NM_014874.3(MFN2):c.*1488C>T
|
rs11554507 |
|
NM_014874.3(MFN2):c.*1539G>A
|
rs557643473 |
|
NM_014874.3(MFN2):c.*1546G>A
|
rs3737960 |
|
NM_014874.3(MFN2):c.*1562G>A
|
rs551566332 |
|
NM_014874.3(MFN2):c.*1576C>T
|
rs78523898 |
|
NM_014874.3(MFN2):c.*1640del
|
rs35943162 |
|
NM_014874.3(MFN2):c.*1640dup
|
rs35943162 |
|
NM_014874.3(MFN2):c.*1706T>G
|
rs543365043 |
|
NM_014874.3(MFN2):c.*1794_*1796del
|
rs540280019 |
|
NM_014874.3(MFN2):c.*221_*222dup
|
rs558848411 |
|
NM_014874.3(MFN2):c.*231G>A
|
rs41278636 |
|
NM_014874.3(MFN2):c.*256G>A
|
rs557772799 |
|
NM_014874.3(MFN2):c.*297T>A
|
rs886045224 |
|
NM_014874.3(MFN2):c.*36G>A
|
rs377468070 |
|
NM_014874.3(MFN2):c.*413C>T
|
rs558887681 |
|
NM_014874.3(MFN2):c.*57C>T
|
rs886045221 |
|
NM_014874.3(MFN2):c.*58A>G
|
rs1042842 |
|
NM_014874.3(MFN2):c.*610del
|
rs747291228 |
|
NM_014874.3(MFN2):c.*730C>T
|
rs112550280 |
|
NM_014874.3(MFN2):c.*777T>C
|
rs112854268 |
|
NM_014874.3(MFN2):c.*864T>C
|
rs886045226 |
|
NM_014874.3(MFN2):c.*870C>T
|
rs886045227 |
|
NM_014874.3(MFN2):c.*896G>C
|
rs3088064 |
|
NM_014874.3(MFN2):c.*912C>T
|
rs14305 |
|
NM_014874.3(MFN2):c.*935G>T
|
rs886045228 |
|
NM_014874.3(MFN2):c.*946C>A
|
rs765105334 |
|
NM_014874.3(MFN2):c.-149-15T>G
|
rs114306601 |
|
NM_014874.3(MFN2):c.-161G>A
|
rs140094248 |
|
NM_014874.3(MFN2):c.-212T>C
|
rs2180183 |
|
NM_014874.3(MFN2):c.-217C>A
|
rs886045218 |
|
NM_014874.3(MFN2):c.-249T>A
|
rs2180182 |
|
NM_014874.3(MFN2):c.-287C>T
|
rs2180181 |
|
NM_014874.3(MFN2):c.-328T>A
|
rs886045217 |
|
NM_014874.3(MFN2):c.-344C>T
|
rs886045216 |
|
NM_014874.3(MFN2):c.-367A>G
|
rs2236054 |
|
NM_014874.3(MFN2):c.-4-13G>T
|
rs373679523 |
|
NM_014874.3(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616 |
|
NM_014874.3(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758 |
|
NM_014874.3(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585 |
|
NM_014874.3(MFN2):c.1495+9C>T
|
rs375494746 |
|
NM_014874.3(MFN2):c.150C>A (p.Ile50=)
|
rs78841746 |
|
NM_014874.3(MFN2):c.153G>T (p.Gln51His)
|
rs886045219 |
|
NM_014874.3(MFN2):c.1569C>T (p.Ser523=)
|
rs1042837 |
|
NM_014874.3(MFN2):c.159C>T (p.Ser53=)
|
rs61733200 |
|
NM_014874.3(MFN2):c.1659G>A (p.Val553=)
|
rs886045220 |
|
NM_014874.3(MFN2):c.165C>T (p.Thr55=)
|
rs77458527 |
|
NM_014874.3(MFN2):c.176-7C>T
|
rs374055101 |
|
NM_014874.3(MFN2):c.179C>T (p.Thr60Met)
|
rs138345244 |
|
NM_014874.3(MFN2):c.1806C>T (p.Ser602=)
|
rs201258935 |
|
NM_014874.3(MFN2):c.1818C>T (p.Gly606=)
|
rs373843969 |
|
NM_014874.3(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074 |
|
NM_014874.3(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012 |
|
NM_014874.3(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424 |
|
NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154 |
|
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile)
|
rs142271930 |
|
NM_014874.3(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689 |
|
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr)
|
rs144860227 |
|
NM_014874.3(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213 |
|
NM_014874.3(MFN2):c.2204+15T>C
|
rs77262016 |
|
NM_014874.3(MFN2):c.2205-13C>A
|
rs76020240 |
|
NM_014874.3(MFN2):c.408A>T (p.Val136=)
|
rs78814413 |
|
NM_014874.3(MFN2):c.474+4A>G
|
rs141974160 |
|
NM_014874.3(MFN2):c.522T>C (p.His174=)
|
rs762789747 |
|
NM_014874.3(MFN2):c.58C>T (p.His20Tyr)
|
rs201715603 |
|
NM_014874.3(MFN2):c.744C>T (p.Leu248=)
|
rs61733205 |
|
NM_014874.3(MFN2):c.756C>T (p.Asn252=)
|
rs137960129 |
|
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530 |
|
NM_014874.3(MFN2):c.891C>T (p.Ala297=)
|
rs11554508 |
|
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630 |
|
NM_014874.3(MFN2):c.898C>T (p.Arg300Cys)
|
rs863224066 |
|
NM_014874.3(MFN2):c.957C>T (p.Gly319=)
|
rs41278632 |
|
NM_014874.3(MFN2):c.975C>T (p.Gly325=)
|
rs141475476 |
|
NM_014874.4(MFN2):c.*1034C>T
|
|
|
NM_014874.4(MFN2):c.*1054C>T
|
|
|
NM_014874.4(MFN2):c.*1222G>A
|
|
|
NM_014874.4(MFN2):c.*131G>A
|
|
|
NM_014874.4(MFN2):c.*1535C>T
|
|
|
NM_014874.4(MFN2):c.*1662T>C
|
|
|
NM_014874.4(MFN2):c.*1763G>A
|
|
|
NM_014874.4(MFN2):c.*1830C>T
|
|
|
NM_014874.4(MFN2):c.*1902C>T
|
|
|
NM_014874.4(MFN2):c.*226C>T
|
|
|
NM_014874.4(MFN2):c.*26G>A
|
|
|
NM_014874.4(MFN2):c.*304A>G
|
|
|
NM_014874.4(MFN2):c.*381C>A
|
|
|
NM_014874.4(MFN2):c.*813G>A
|
|
|
NM_014874.4(MFN2):c.-80C>T
|
|
|
NM_014874.4(MFN2):c.1631A>G (p.His544Arg)
|
|
|
NM_014874.4(MFN2):c.1716+8A>G
|
|
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
|
|
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
|
|
|
NM_014874.4(MFN2):c.2204+13C>T
|
|
|
NM_014874.4(MFN2):c.2211A>G (p.Lys737=)
|
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
|
|
NM_016156.5(MTMR2):c.*1066T>C
|
rs16922622 |
|
NM_016156.5(MTMR2):c.*1089C>G
|
rs147982779 |
|
NM_016156.5(MTMR2):c.*1100_*1103dup
|
rs886048767 |
|
NM_016156.5(MTMR2):c.*1150C>T
|
rs886048766 |
|
NM_016156.5(MTMR2):c.*1226_*1228del
|
rs142663762 |
|
NM_016156.5(MTMR2):c.*133C>G
|
rs367677499 |
|
NM_016156.5(MTMR2):c.*1343_*1344del
|
rs886048765 |
|
NM_016156.5(MTMR2):c.*1396C>T
|
rs16922615 |
|
NM_016156.5(MTMR2):c.*1419G>A
|
rs496305 |
|
NM_016156.5(MTMR2):c.*1425A>G
|
rs886048764 |
|
NM_016156.5(MTMR2):c.*1444C>G
|
rs149223349 |
|
NM_016156.5(MTMR2):c.*1568C>T
|
rs596277 |
|
NM_016156.5(MTMR2):c.*1684A>C
|
rs79576160 |
|
NM_016156.5(MTMR2):c.*1822T>G
|
rs562826516 |
|
NM_016156.5(MTMR2):c.*1826C>A
|
rs145394232 |
|
NM_016156.5(MTMR2):c.*1888del
|
rs775823662 |
|
NM_016156.5(MTMR2):c.*190G>A
|
rs886048769 |
|
NM_016156.5(MTMR2):c.*1934T>C
|
rs525404 |
|
NM_016156.5(MTMR2):c.*1952G>A
|
rs118033833 |
|
NM_016156.5(MTMR2):c.*2014T>G
|
rs112404010 |
|
NM_016156.5(MTMR2):c.*2038C>G
|
rs886048763 |
|
NM_016156.5(MTMR2):c.*207A>G
|
rs185702937 |
|
NM_016156.5(MTMR2):c.*2187A>G
|
rs141738388 |
|
NM_016156.5(MTMR2):c.*2357T>C
|
rs886048762 |
|
NM_016156.5(MTMR2):c.*2406C>T
|
rs16922613 |
|
NM_016156.5(MTMR2):c.*549G>A
|
rs611020 |
|
NM_016156.5(MTMR2):c.*660G>A
|
rs886048768 |
|
NM_016156.5(MTMR2):c.*679A>C
|
rs776788118 |
|
NM_016156.5(MTMR2):c.*837G>A
|
rs532069328 |
|
NM_016156.5(MTMR2):c.*85A>C
|
rs578159 |
|
NM_016156.5(MTMR2):c.*910T>A
|
rs555290971 |
|
NM_016156.5(MTMR2):c.*987T>C
|
rs57807625 |
|
NM_016156.5(MTMR2):c.-222G>C
|
rs746848952 |
|
NM_016156.5(MTMR2):c.-82C>T
|
rs886048773 |
|
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=)
|
rs113897932 |
|
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467 |
|
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile)
|
rs769693714 |
|
NM_016156.5(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624 |
|
NM_016156.5(MTMR2):c.1450A>G (p.Ile484Val)
|
rs886048771 |
|
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=)
|
rs112327353 |
|
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979 |
|
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser)
|
rs558018 |
|
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678 |
|
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=)
|
rs61735577 |
|
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly)
|
rs76784113 |
|
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu)
|
rs886048770 |
|
NM_016156.5(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429 |
|
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro)
|
rs116750638 |
|
NM_016156.5(MTMR2):c.186+5624TTTTA[6]
|
rs112378876 |
|
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln)
|
rs371925152 |
|
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val)
|
rs886048772 |
|
NM_016156.5(MTMR2):c.240A>C (p.Pro80=)
|
rs201920176 |
|
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser)
|
rs142155860 |
|
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748 |
|
NM_016156.5(MTMR2):c.655-8A>G
|
rs768562214 |
|
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr)
|
rs879253940 |
|
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934 |
|
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874 |
|
NM_016156.6(MTMR2):c.*1036C>T
|
|
|
NM_016156.6(MTMR2):c.*1249G>A
|
|
|
NM_016156.6(MTMR2):c.*1271A>G
|
|
|
NM_016156.6(MTMR2):c.*1339T>G
|
|
|
NM_016156.6(MTMR2):c.*1656T>G
|
|
|
NM_016156.6(MTMR2):c.*2042G>C
|
|
|
NM_016156.6(MTMR2):c.*212A>C
|
|
|
NM_016156.6(MTMR2):c.*239A>T
|
|
|
NM_016156.6(MTMR2):c.*335T>C
|
|
|
NM_016156.6(MTMR2):c.*810C>G
|
|
|
NM_016156.6(MTMR2):c.*825G>A
|
|
|
NM_016156.6(MTMR2):c.-81G>A
|
|
|
NM_016156.6(MTMR2):c.-89C>G
|
|
|
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
|
|
|
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)
|
|
|
NM_018972.4(GDAP1):c.*1006C>T
|
|
|
NM_018972.4(GDAP1):c.*1030T>C
|
rs576789317 |
|
NM_018972.4(GDAP1):c.*1043G>C
|
|
|
NM_018972.4(GDAP1):c.*1080G>A
|
|
|
NM_018972.4(GDAP1):c.*1124G>T
|
rs886063111 |
|
NM_018972.4(GDAP1):c.*1141C>T
|
|
|
NM_018972.4(GDAP1):c.*1162T>C
|
rs113017051 |
|
NM_018972.4(GDAP1):c.*1165C>G
|
|
|
NM_018972.4(GDAP1):c.*1173G>T
|
rs72665430 |
|
NM_018972.4(GDAP1):c.*1183G>A
|
|
|
NM_018972.4(GDAP1):c.*1289T>C
|
|
|
NM_018972.4(GDAP1):c.*1301A>G
|
|
|
NM_018972.4(GDAP1):c.*1372A>G
|
|
|
NM_018972.4(GDAP1):c.*1377C>T
|
rs886063112 |
|
NM_018972.4(GDAP1):c.*1415C>T
|
|
|
NM_018972.4(GDAP1):c.*1416G>A
|
rs575631045 |
|
NM_018972.4(GDAP1):c.*1429A>G
|
rs78545774 |
|
NM_018972.4(GDAP1):c.*1430T>A
|
rs538689570 |
|
NM_018972.4(GDAP1):c.*1437A>C
|
rs557040712 |
|
NM_018972.4(GDAP1):c.*1527G>A
|
rs886063113 |
|
NM_018972.4(GDAP1):c.*1570G>C
|
rs886063114 |
|
NM_018972.4(GDAP1):c.*1639A>G
|
rs145245478 |
|
NM_018972.4(GDAP1):c.*1639A>T
|
|
|
NM_018972.4(GDAP1):c.*1647C>T
|
rs115466662 |
|
NM_018972.4(GDAP1):c.*1701T>C
|
rs781146378 |
|
NM_018972.4(GDAP1):c.*1779G>T
|
rs886063115 |
|
NM_018972.4(GDAP1):c.*1819T>C
|
|
|
NM_018972.4(GDAP1):c.*1855A>G
|
rs6472842 |
|
NM_018972.4(GDAP1):c.*1878G>T
|
rs16938896 |
|
NM_018972.4(GDAP1):c.*18C>T
|
|
|
NM_018972.4(GDAP1):c.*1905A>G
|
|
|
NM_018972.4(GDAP1):c.*1923C>T
|
rs886063116 |
|
NM_018972.4(GDAP1):c.*195T>C
|
|
|
NM_018972.4(GDAP1):c.*1968C>T
|
|
|
NM_018972.4(GDAP1):c.*1976C>T
|
rs527937918 |
|
NM_018972.4(GDAP1):c.*2125A>C
|
|
|
NM_018972.4(GDAP1):c.*2170A>G
|
rs886063117 |
|
NM_018972.4(GDAP1):c.*2210C>T
|
rs571939530 |
|
NM_018972.4(GDAP1):c.*2214A>G
|
rs10504580 |
|
NM_018972.4(GDAP1):c.*2244T>C
|
|
|
NM_018972.4(GDAP1):c.*2298A>C
|
|
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344 |
|
NM_018972.4(GDAP1):c.*2408G>A
|
rs11996204 |
|
NM_018972.4(GDAP1):c.*2463A>G
|
rs9643686 |
|
NM_018972.4(GDAP1):c.*331C>T
|
|
|
NM_018972.4(GDAP1):c.*357A>G
|
rs1135715 |
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784 |
|
NM_018972.4(GDAP1):c.*451C>T
|
|
|
NM_018972.4(GDAP1):c.*561C>G
|
rs80136809 |
|
NM_018972.4(GDAP1):c.*618C>T
|
rs886063106 |
|
NM_018972.4(GDAP1):c.*61C>T
|
|
|
NM_018972.4(GDAP1):c.*644G>T
|
|
|
NM_018972.4(GDAP1):c.*663T>C
|
rs886063107 |
|
NM_018972.4(GDAP1):c.*697A>G
|
|
|
NM_018972.4(GDAP1):c.*723G>A
|
|
|
NM_018972.4(GDAP1):c.*751A>G
|
rs544136357 |
|
NM_018972.4(GDAP1):c.*797A>G
|
rs7007283 |
|
NM_018972.4(GDAP1):c.*830C>G
|
rs4737414 |
|
NM_018972.4(GDAP1):c.*858G>T
|
rs761964880 |
|
NM_018972.4(GDAP1):c.*860T>C
|
|
|
NM_018972.4(GDAP1):c.*864G>C
|
rs886063108 |
|
NM_018972.4(GDAP1):c.*873T>C
|
rs573385308 |
|
NM_018972.4(GDAP1):c.*898A>G
|
rs886063109 |
|
NM_018972.4(GDAP1):c.*920C>G
|
|
|
NM_018972.4(GDAP1):c.*926C>A
|
|
|
NM_018972.4(GDAP1):c.*931A>G
|
rs532787830 |
|
NM_018972.4(GDAP1):c.*961G>C
|
rs886063110 |
|
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val)
|
|
|
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu)
|
|
|
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln)
|
rs771810975 |
|
NM_018972.4(GDAP1):c.471T>G (p.Thr157=)
|
|
|
NM_018972.4(GDAP1):c.485-6T>C
|
rs763802909 |
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166 |
|
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val)
|
rs148508128 |
|
NM_018972.4(GDAP1):c.693A>T (p.Pro231=)
|
rs181157785 |
|
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser)
|
|
|
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg)
|
rs778557691 |
|
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg)
|
|
|
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)
|
rs199529910 |
|
NM_020956.2(PRX):c.*1028C>A
|
rs200033507 |
|
NM_020956.2(PRX):c.*1038C>T
|
rs886054440 |
|
NM_020956.2(PRX):c.*1127A>G
|
rs753330520 |
|
NM_020956.2(PRX):c.*1165G>A
|
rs775367319 |
|
NM_020956.2(PRX):c.*1171G>T
|
rs139544245 |
|
NM_020956.2(PRX):c.*1197C>T
|
rs566629777 |
|
NM_020956.2(PRX):c.*1198G>A
|
rs146323928 |
|
NM_020956.2(PRX):c.*1231A>C
|
rs150772010 |
|
NM_020956.2(PRX):c.*1256C>T
|
rs73933276 |
|
NM_020956.2(PRX):c.*1292C>G
|
rs886054439 |
|
NM_020956.2(PRX):c.*1420C>T
|
rs377184301 |
|
NM_020956.2(PRX):c.*1421G>A
|
rs117336941 |
|
NM_020956.2(PRX):c.*1486C>T
|
rs76960467 |
|
NM_020956.2(PRX):c.*1574G>A
|
rs142064826 |
|
NM_020956.2(PRX):c.*1688G>C
|
rs146789340 |
|
NM_020956.2(PRX):c.*1705A>G
|
rs777104457 |
|
NM_020956.2(PRX):c.*1751C>T
|
rs144305922 |
|
NM_020956.2(PRX):c.*1773T>C
|
rs550446238 |
|
NM_020956.2(PRX):c.*1779T>C
|
rs149715830 |
|
NM_020956.2(PRX):c.*1829C>T
|
rs201337455 |
|
NM_020956.2(PRX):c.*1830G>A
|
rs139586219 |
|
NM_020956.2(PRX):c.*1856G>A
|
rs61733448 |
|
NM_020956.2(PRX):c.*2033G>A
|
rs537664679 |
|
NM_020956.2(PRX):c.*2041C>T
|
rs574899855 |
|
NM_020956.2(PRX):c.*2096C>G
|
rs886054438 |
|
NM_020956.2(PRX):c.*2169C>T
|
rs118003416 |
|
NM_020956.2(PRX):c.*2222A>G
|
rs61735531 |
|
NM_020956.2(PRX):c.*2276A>C
|
rs886054437 |
|
NM_020956.2(PRX):c.*2306G>A
|
rs116855701 |
|
NM_020956.2(PRX):c.*2420G>A
|
rs779294844 |
|
NM_020956.2(PRX):c.*2434C>T
|
rs144975214 |
|
NM_020956.2(PRX):c.*2459G>A
|
rs147587689 |
|
NM_020956.2(PRX):c.*2487C>T
|
rs530370432 |
|
NM_020956.2(PRX):c.*2497C>G
|
rs142637195 |
|
NM_020956.2(PRX):c.*2654C>T
|
rs147441856 |
|
NM_020956.2(PRX):c.*2674G>A
|
rs61733450 |
|
NM_020956.2(PRX):c.*2741C>T
|
rs765595266 |
|
NM_020956.2(PRX):c.*2753C>G
|
rs141686828 |
|
NM_020956.2(PRX):c.*2825G>A
|
rs145790961 |
|
NM_020956.2(PRX):c.*2850T>C
|
rs268671 |
|
NM_020956.2(PRX):c.*2860T>C
|
rs268672 |
|
NM_020956.2(PRX):c.*2895G>A
|
rs752531623 |
|
NM_020956.2(PRX):c.*2932C>T
|
rs61735546 |
|
NM_020956.2(PRX):c.*2933G>A
|
rs145203783 |
|
NM_020956.2(PRX):c.*2951G>C
|
rs775152960 |
|
NM_020956.2(PRX):c.*2968A>G
|
rs268673 |
|
NM_020956.2(PRX):c.*2980C>T
|
rs201792838 |
|
NM_020956.2(PRX):c.*3037T>C
|
rs145226687 |
|
NM_020956.2(PRX):c.*3114G>A
|
rs764162630 |
|
NM_020956.2(PRX):c.*3138A>G
|
rs767386430 |
|
NM_020956.2(PRX):c.*3391G>T
|
rs139188673 |
|
NM_020956.2(PRX):c.*3414G>A
|
rs146222815 |
|
NM_020956.2(PRX):c.*3423A>G
|
rs61733451 |
|
NM_020956.2(PRX):c.*3425G>A
|
rs886054436 |
|
NM_020956.2(PRX):c.*3453C>G
|
rs3745202 |
|
NM_020956.2(PRX):c.*3476G>A
|
rs368459753 |
|
NM_020956.2(PRX):c.*3578G>A
|
rs148939995 |
|
NM_020956.2(PRX):c.*3599G>A
|
rs268674 |
|
NM_020956.2(PRX):c.*3701C>T
|
rs147826200 |
|
NM_020956.2(PRX):c.*3754C>T
|
rs367876251 |
|
NM_020956.2(PRX):c.*3907C>T
|
rs139950446 |
|
NM_020956.2(PRX):c.*3913G>A
|
rs202119177 |
|
NM_020956.2(PRX):c.*3980G>A
|
rs751742049 |
|
NM_020956.2(PRX):c.*4004G>A
|
rs542711361 |
|
NM_020956.2(PRX):c.*4007G>C
|
rs146061247 |
|
NM_020956.2(PRX):c.*4051G>A
|
rs143289108 |
|
NM_020956.2(PRX):c.*4054A>G
|
rs757247849 |
|
NM_020956.2(PRX):c.*4073G>A
|
rs773955274 |
|
NM_020956.2(PRX):c.*4152C>T
|
rs142762689 |
|
NM_020956.2(PRX):c.*4249G>C
|
rs76088917 |
|
NM_020956.2(PRX):c.*4314G>A
|
rs756687548 |
|
NM_020956.2(PRX):c.*4316C>T
|
rs753339248 |
|
NM_020956.2(PRX):c.*4323G>A
|
rs763294661 |
|
NM_020956.2(PRX):c.*4362C>A
|
rs372582520 |
|
NM_020956.2(PRX):c.*4376C>G
|
rs369072136 |
|
NM_020956.2(PRX):c.*4512G>A
|
rs368827070 |
|
NM_020956.2(PRX):c.*4581C>T
|
rs373051724 |
|
NM_020956.2(PRX):c.*4735C>T
|
rs189487790 |
|
NM_020956.2(PRX):c.*4743A>G
|
rs886054435 |
|
NM_020956.2(PRX):c.*676G>A
|
rs4803335 |
|
NM_020956.2(PRX):c.*698C>T
|
rs555499679 |
|
NM_020956.2(PRX):c.*705G>C
|
rs757322355 |
|
NM_020956.2(PRX):c.*744C>T
|
rs540526276 |
|
NM_020956.2(PRX):c.*759G>A
|
rs76756143 |
|
NM_020956.2(PRX):c.*802C>T
|
rs144157275 |
|
NM_020956.2(PRX):c.*888G>A
|
rs562108874 |
|
NM_020956.2(PRX):c.*924G>A
|
rs77917609 |
|
NM_020956.2(PRX):c.*936C>T
|
rs118071705 |
|
NM_020956.2(PRX):c.-114T>G
|
rs367716653 |
|
NM_020956.2(PRX):c.-143G>A
|
rs559995627 |
|
NM_020956.2(PRX):c.-160C>T
|
rs763423646 |
|
NM_020956.2(PRX):c.-198-14C>T
|
rs886054442 |
|
NM_020956.2(PRX):c.-199+7G>C
|
rs541213273 |
|
NM_020956.2(PRX):c.-20A>C
|
rs780315081 |
|
NM_020956.2(PRX):c.-236G>A
|
rs552436076 |
|
NM_020956.2(PRX):c.133C>G (p.Arg45Gly)
|
rs115090201 |
|
NM_020956.2(PRX):c.237C>T (p.Asp79=)
|
rs376174896 |
|
NM_020956.2(PRX):c.306C>T (p.Thr102=)
|
rs744389 |
|
NM_020956.2(PRX):c.361C>T (p.Arg121Trp)
|
rs750435566 |
|
NM_020956.2(PRX):c.379C>T (p.Leu127=)
|
rs886054441 |
|
NM_020956.2(PRX):c.80C>A (p.Thr27Asn)
|
rs1291881750 |
|
NM_021625.4(TRPV4):c.*212G>A
|
rs886048938 |
|
NM_021625.4(TRPV4):c.*230G>A
|
rs181542514 |
|
NM_021625.4(TRPV4):c.*365C>T
|
rs184413363 |
|
NM_021625.4(TRPV4):c.*378G>C
|
rs538255561 |
|
NM_021625.4(TRPV4):c.*405G>A
|
rs886048937 |
|
NM_021625.4(TRPV4):c.*423G>A
|
rs151286044 |
|
NM_021625.4(TRPV4):c.*486T>C
|
rs79157363 |
|
NM_021625.4(TRPV4):c.*51G>A
|
rs886048939 |
|
NM_021625.4(TRPV4):c.*99C>T
|
rs552478250 |
|
NM_021625.4(TRPV4):c.-74G>A
|
rs886048942 |
|
NM_021625.4(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412 |
|
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335 |
|
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468 |
|
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536 |
|
NM_021625.4(TRPV4):c.1153-10C>T
|
rs149541389 |
|
NM_021625.4(TRPV4):c.1211G>A (p.Arg404His)
|
rs377257364 |
|
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=)
|
rs141244183 |
|
NM_021625.4(TRPV4):c.1341C>T (p.His447=)
|
rs57316123 |
|
NM_021625.4(TRPV4):c.1352C>T (p.Ala451Val)
|
rs886048940 |
|
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874 |
|
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022 |
|
NM_021625.4(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222 |
|
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)
|
rs758280554 |
|
NM_021625.4(TRPV4):c.1491+10C>T
|
rs201815805 |
|
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965 |
|
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=)
|
rs141295418 |
|
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458 |
|
NM_021625.4(TRPV4):c.1584+13C>T
|
rs199712027 |
|
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)
|
rs142749412 |
|
NM_021625.4(TRPV4):c.1601T>C (p.Met534Thr)
|
rs775011025 |
|
NM_021625.4(TRPV4):c.1658+15C>T
|
rs200083069 |
|
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile)
|
rs56177950 |
|
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe)
|
rs763889344 |
|
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met)
|
rs185933892 |
|
NM_021625.4(TRPV4):c.171T>C (p.Pro57=)
|
rs886048941 |
|
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met)
|
rs140535889 |
|
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=)
|
rs35078611 |
|
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216 |
|
NM_021625.4(TRPV4):c.1824+4C>T
|
rs147259744 |
|
NM_021625.4(TRPV4):c.1825-15C>G
|
rs200602134 |
|
NM_021625.4(TRPV4):c.1825-15C>T
|
rs200602134 |
|
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=)
|
rs3742037 |
|
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=)
|
rs375633647 |
|
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102 |
|
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg)
|
rs1423138633 |
|
NM_021625.4(TRPV4):c.2236C>G (p.Arg746Gly)
|
rs375189134 |
|
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058 |
|
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=)
|
rs202036871 |
|
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228 |
|
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919 |
|
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=)
|
rs34071623 |
|
NM_021625.4(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086 |
|
NM_021625.4(TRPV4):c.2459-9T>G
|
rs115373018 |
|
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106 |
|
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser)
|
rs116035946 |
|
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=)
|
rs546957932 |
|
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855 |
|
NM_021625.4(TRPV4):c.2560G>A (p.Asp854Asn)
|
rs368963822 |
|
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr)
|
rs138396764 |
|
NM_021625.4(TRPV4):c.33G>T (p.Gly11=)
|
rs56092423 |
|
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp)
|
rs763302555 |
|
NM_021625.4(TRPV4):c.387-4C>T
|
rs12305439 |
|
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg)
|
rs201241092 |
|
NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486 |
|
NM_021625.4(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510 |
|
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351 |
|
NM_021625.4(TRPV4):c.549G>A (p.Glu183=)
|
rs141908793 |
|
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser)
|
rs3742030 |
|
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973 |
|
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727 |
|
NM_021625.4(TRPV4):c.650C>T (p.Ala217Val)
|
rs548909101 |
|
NM_021625.4(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831 |
|
NM_021625.4(TRPV4):c.670A>C (p.Arg224=)
|
rs3825394 |
|
NM_021625.4(TRPV4):c.712+10C>T
|
rs115657305 |
|
NM_021625.4(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402 |
|
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500 |
|
NM_021625.4(TRPV4):c.789T>C (p.Asp263=)
|
rs3742034 |
|
NM_021625.4(TRPV4):c.795C>T (p.His265=)
|
rs1344554 |
|
NM_021625.4(TRPV4):c.810G>A (p.Gly270=)
|
rs147558344 |
|
NM_021625.4(TRPV4):c.81T>C (p.Gly27=)
|
rs34599967 |
|
NM_021625.4(TRPV4):c.854-4G>A
|
rs371733585 |
|
NM_021625.4(TRPV4):c.854-5C>T
|
rs116401333 |
|
NM_021625.4(TRPV4):c.936G>A (p.Ala312=)
|
rs202084699 |
|
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080 |
|
NM_021625.4(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854 |
|
NM_021625.5(TRPV4):c.*145C>T
|
|
|
NM_021625.5(TRPV4):c.*190C>T
|
|
|
NM_021625.5(TRPV4):c.*227A>G
|
|
|
NM_021625.5(TRPV4):c.*2G>A
|
|
|
NM_021625.5(TRPV4):c.*303G>A
|
|
|
NM_021625.5(TRPV4):c.*411A>G
|
|
|
NM_021625.5(TRPV4):c.*421G>A
|
|
|
NM_021625.5(TRPV4):c.*500C>T
|
|
|
NM_021625.5(TRPV4):c.*83C>G
|
|
|
NM_021625.5(TRPV4):c.-59C>T
|
|
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
|
|
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys)
|
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
|
|
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
|
|
|
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg)
|
|
|
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys)
|
|
|
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val)
|
|
|
NM_021625.5(TRPV4):c.812G>A (p.Arg271His)
|
|
|
NM_022753.4(S100PBP):c.-120+175T>G
|
rs1057515550 |
|
NM_022753.4(S100PBP):c.-120+178C>T
|
|
|
NM_022753.4(S100PBP):c.-120+19G>A
|
rs534491159 |
|
NM_022753.4(S100PBP):c.-120+217C>T
|
rs112104823 |
|
NM_022753.4(S100PBP):c.-120+238G>A
|
rs72654022 |
|
NM_022753.4(S100PBP):c.-120+293G>C
|
rs3737251 |
|
NM_022753.4(S100PBP):c.-120+296G>A
|
rs547181978 |
|
NM_022753.4(S100PBP):c.-120+337C>T
|
|
|
NM_022753.4(S100PBP):c.-120+94C>A
|
rs114349735 |
|
NM_022753.4(S100PBP):c.-123G>A
|
rs115959445 |
|
NM_022753.4(S100PBP):c.-124C>G
|
|
|
NM_022753.4(S100PBP):c.-128C>T
|
rs537314587 |
|
NM_022753.4(S100PBP):c.-150G>A
|
|
|
NM_024577.3(SH3TC2):c.*10006A>T
|
rs201998002 |
|
NM_024577.3(SH3TC2):c.*10010A>T
|
rs886060145 |
|
NM_024577.3(SH3TC2):c.*10010_*10013dupATCC
|
rs201323132 |
|
NM_024577.3(SH3TC2):c.*10018A>T
|
rs866934630 |
|
NM_024577.3(SH3TC2):c.*10022A>T
|
rs56245745 |
|
NM_024577.3(SH3TC2):c.*10052C>T
|
rs113802539 |
|
NM_024577.3(SH3TC2):c.*10060C>A
|
rs886060143 |
|
NM_024577.3(SH3TC2):c.*1006C>T
|
rs886060185 |
|
NM_024577.3(SH3TC2):c.*10079A>G
|
rs886060142 |
|
NM_024577.3(SH3TC2):c.*10083A>G
|
rs886060141 |
|
NM_024577.3(SH3TC2):c.*10099A>T
|
rs570266229 |
|
NM_024577.3(SH3TC2):c.*10101C>T
|
rs552099019 |
|
NM_024577.3(SH3TC2):c.*10103A>T
|
rs754724940 |
|
NM_024577.3(SH3TC2):c.*10103_*10110delACCAACCA
|
rs57301725 |
|
NM_024577.3(SH3TC2):c.*10105C>T
|
rs753563756 |
|
NM_024577.3(SH3TC2):c.*10107_*10110delACCA
|
rs57301725 |
|
NM_024577.3(SH3TC2):c.*10107_*10110dupACCA
|
rs57301725 |
|
NM_024577.3(SH3TC2):c.*10111_*10114del
|
rs777886659 |
|
NM_024577.3(SH3TC2):c.*10120C>A
|
rs13355933 |
|
NM_024577.3(SH3TC2):c.*10132A>G
|
rs886060138 |
|
NM_024577.3(SH3TC2):c.*10177T>A
|
rs149759395 |
|
NM_024577.3(SH3TC2):c.*10485G>A
|
rs76931184 |
|
NM_024577.3(SH3TC2):c.*10505A>G
|
rs886060137 |
|
NM_024577.3(SH3TC2):c.*10546C>T
|
rs186003687 |
|
NM_024577.3(SH3TC2):c.*10573T>C
|
rs886060136 |
|
NM_024577.3(SH3TC2):c.*10756G>T
|
rs886060135 |
|
NM_024577.3(SH3TC2):c.*10767G>A
|
rs139720866 |
|
NM_024577.3(SH3TC2):c.*10863C>T
|
rs181346624 |
|
NM_024577.3(SH3TC2):c.*10864G>A
|
rs189701174 |
|
NM_024577.3(SH3TC2):c.*10875T>C
|
rs184560843 |
|
NM_024577.3(SH3TC2):c.*10968G>A
|
rs13166730 |
|
NM_024577.3(SH3TC2):c.*10984G>T
|
rs868782614 |
|
NM_024577.3(SH3TC2):c.*11010A>G
|
rs114735628 |
|
NM_024577.3(SH3TC2):c.*11054G>C
|
rs886060134 |
|
NM_024577.3(SH3TC2):c.*11055T>C
|
rs886060133 |
|
NM_024577.3(SH3TC2):c.*11120G>A
|
rs2069087 |
|
NM_024577.3(SH3TC2):c.*11160C>T
|
rs886060132 |
|
NM_024577.3(SH3TC2):c.*11390A>G
|
rs3213854 |
|
NM_024577.3(SH3TC2):c.*11506C>T
|
rs886060131 |
|
NM_024577.3(SH3TC2):c.*11542G>A
|
rs886060130 |
|
NM_024577.3(SH3TC2):c.*11593G>A
|
rs886060129 |
|
NM_024577.3(SH3TC2):c.*11621G>A
|
rs886060128 |
|
NM_024577.3(SH3TC2):c.*11852G>T
|
rs13359285 |
|
NM_024577.3(SH3TC2):c.*12088_*12091del
|
rs886060127 |
|
NM_024577.3(SH3TC2):c.*12108_*12110del
|
rs35182601 |
|
NM_024577.3(SH3TC2):c.*12109_*12110dup
|
rs35182601 |
|
NM_024577.3(SH3TC2):c.*12110dup
|
rs35182601 |
|
NM_024577.3(SH3TC2):c.*12111_*12112insAA
|
rs886060126 |
|
NM_024577.3(SH3TC2):c.*12114dup
|
rs886060125 |
|
NM_024577.3(SH3TC2):c.*12126C>T
|
rs886060124 |
|
NM_024577.3(SH3TC2):c.*12146C>G
|
rs886060123 |
|
NM_024577.3(SH3TC2):c.*122G>T
|
rs114151926 |
|
NM_024577.3(SH3TC2):c.*12469T>A
|
rs886060122 |
|
NM_024577.3(SH3TC2):c.*12509T>C
|
rs550901114 |
|
NM_024577.3(SH3TC2):c.*1254T>C
|
rs752672326 |
|
NM_024577.3(SH3TC2):c.*12637A>G
|
rs536941130 |
|
NM_024577.3(SH3TC2):c.*12653C>A
|
rs886060121 |
|
NM_024577.3(SH3TC2):c.*12752T>A
|
rs886060120 |
|
NM_024577.3(SH3TC2):c.*12807G>A
|
rs150317192 |
|
NM_024577.3(SH3TC2):c.*12969C>A
|
rs76955068 |
|
NM_024577.3(SH3TC2):c.*1309C>T
|
rs1007401 |
|
NM_024577.3(SH3TC2):c.*1310G>A
|
rs886060184 |
|
NM_024577.3(SH3TC2):c.*13230C>T
|
rs138600983 |
|
NM_024577.3(SH3TC2):c.*13293T>C
|
rs886060119 |
|
NM_024577.3(SH3TC2):c.*13352G>A
|
rs192178726 |
|
NM_024577.3(SH3TC2):c.*13465C>A
|
rs186009343 |
|
NM_024577.3(SH3TC2):c.*13514A>G
|
rs78516040 |
|
NM_024577.3(SH3TC2):c.*13598A>G
|
rs141011337 |
|
NM_024577.3(SH3TC2):c.*13923T>C
|
rs534282709 |
|
NM_024577.3(SH3TC2):c.*14411G>A
|
rs143623684 |
|
NM_024577.3(SH3TC2):c.*14429T>G
|
rs577465518 |
|
NM_024577.3(SH3TC2):c.*14562G>A
|
rs17109198 |
|
NM_024577.3(SH3TC2):c.*14621G>T
|
rs17795097 |
|
NM_024577.3(SH3TC2):c.*14628C>T
|
rs886060118 |
|
NM_024577.3(SH3TC2):c.*14766T>A
|
rs891919 |
|
NM_024577.3(SH3TC2):c.*14781C>A
|
rs886060117 |
|
NM_024577.3(SH3TC2):c.*147A>T
|
rs147796833 |
|
NM_024577.3(SH3TC2):c.*14827T>A
|
rs569378409 |
|
NM_024577.3(SH3TC2):c.*14856C>A
|
rs891920 |
|
NM_024577.3(SH3TC2):c.*14894G>A
|
rs17109192 |
|
NM_024577.3(SH3TC2):c.*14985A>G
|
rs886060116 |
|
NM_024577.3(SH3TC2):c.*15061C>T
|
rs115722370 |
|
NM_024577.3(SH3TC2):c.*15062G>A
|
rs886060115 |
|
NM_024577.3(SH3TC2):c.*15125C>G
|
rs181229340 |
|
NM_024577.3(SH3TC2):c.*15235A>G
|
rs145210501 |
|
NM_024577.3(SH3TC2):c.*15311del
|
rs886060114 |
|
NM_024577.3(SH3TC2):c.*15339G>A
|
rs886060113 |
|
NM_024577.3(SH3TC2):c.*15383C>A
|
rs186004627 |
|
NM_024577.3(SH3TC2):c.*15489G>A
|
rs115194965 |
|
NM_024577.3(SH3TC2):c.*15680T>C
|
rs886060112 |
|
NM_024577.3(SH3TC2):c.*15823T>A
|
rs4562031 |
|
NM_024577.3(SH3TC2):c.*15823T>C
|
rs4562031 |
|
NM_024577.3(SH3TC2):c.*15824G>A
|
rs530880070 |
|
NM_024577.3(SH3TC2):c.*16020A>C
|
rs4543254 |
|
NM_024577.3(SH3TC2):c.*16056C>T
|
rs147906062 |
|
NM_024577.3(SH3TC2):c.*16169G>A
|
rs191600511 |
|
NM_024577.3(SH3TC2):c.*16257T>C
|
rs572081330 |
|
NM_024577.3(SH3TC2):c.*16261C>T
|
rs150690882 |
|
NM_024577.3(SH3TC2):c.*16378C>A
|
rs144423228 |
|
NM_024577.3(SH3TC2):c.*1639T>C
|
rs1007400 |
|
NM_024577.3(SH3TC2):c.*16507C>T
|
rs886060111 |
|
NM_024577.3(SH3TC2):c.*16509A>G
|
rs886060110 |
|
NM_024577.3(SH3TC2):c.*16562G>T
|
rs369963209 |
|
NM_024577.3(SH3TC2):c.*16631G>A
|
rs4705303 |
|
NM_024577.3(SH3TC2):c.*16711C>G
|
rs886060109 |
|
NM_024577.3(SH3TC2):c.*16784C>T
|
rs144720540 |
|
NM_024577.3(SH3TC2):c.*16855A>G
|
rs886060108 |
|
NM_024577.3(SH3TC2):c.*16896_*16901dupCACACA
|
rs71957589 |
|
NM_024577.3(SH3TC2):c.*16898_*16901delCACA
|
rs71957589 |
|
NM_024577.3(SH3TC2):c.*16900_*16901delCA
|
rs71957589 |
|
NM_024577.3(SH3TC2):c.*16900_*16901dupCA
|
rs71957589 |
|
NM_024577.3(SH3TC2):c.*16902G>A
|
rs886060107 |
|
NM_024577.3(SH3TC2):c.*16905T>G
|
rs886060105 |
|
NM_024577.3(SH3TC2):c.*16928A>G
|
rs760134609 |
|
NM_024577.3(SH3TC2):c.*16947C>T
|
rs142551288 |
|
NM_024577.3(SH3TC2):c.*16950T>C
|
rs10040798 |
|
NM_024577.3(SH3TC2):c.*17036C>G
|
rs75086059 |
|
NM_024577.3(SH3TC2):c.*17036C>T
|
rs75086059 |
|
NM_024577.3(SH3TC2):c.*17192C>T
|
rs886060104 |
|
NM_024577.3(SH3TC2):c.*17317G>A
|
rs78254952 |
|
NM_024577.3(SH3TC2):c.*1750C>T
|
rs146276637 |
|
NM_024577.3(SH3TC2):c.*17662T>C
|
rs556308084 |
|
NM_024577.3(SH3TC2):c.*17703A>G
|
rs4235739 |
|
NM_024577.3(SH3TC2):c.*17833T>G
|
rs886060103 |
|
NM_024577.3(SH3TC2):c.*17903A>G
|
rs76444127 |
|
NM_024577.3(SH3TC2):c.*18234G>A
|
rs886060102 |
|
NM_024577.3(SH3TC2):c.*18299C>T
|
rs147903089 |
|
NM_024577.3(SH3TC2):c.*18476T>C
|
rs185251230 |
|
NM_024577.3(SH3TC2):c.*18483dup
|
rs536826583 |
|
NM_024577.3(SH3TC2):c.*18554G>T
|
rs10040598 |
|
NM_024577.3(SH3TC2):c.*18606T>G
|
rs182775401 |
|
NM_024577.3(SH3TC2):c.*18635C>T
|
rs886060101 |
|
NM_024577.3(SH3TC2):c.*19002A>G
|
rs546701780 |
|
NM_024577.3(SH3TC2):c.*19040A>G
|
rs930205 |
|
NM_024577.3(SH3TC2):c.*1909G>T
|
rs998304 |
|
NM_024577.3(SH3TC2):c.*19182A>C
|
rs886060100 |
|
NM_024577.3(SH3TC2):c.*19250T>A
|
rs886060099 |
|
NM_024577.3(SH3TC2):c.*19270G>A
|
rs149188140 |
|
NM_024577.3(SH3TC2):c.*19342A>G
|
rs886060098 |
|
NM_024577.3(SH3TC2):c.*1935T>C
|
rs6883926 |
|
NM_024577.3(SH3TC2):c.*19406A>G
|
rs72835351 |
|
NM_024577.3(SH3TC2):c.*19406A>T
|
rs72835351 |
|
NM_024577.3(SH3TC2):c.*19411T>C
|
rs780022559 |
|
NM_024577.3(SH3TC2):c.*1942del
|
rs886060183 |
|
NM_024577.3(SH3TC2):c.*1946_*1947del
|
rs397883732 |
|
NM_024577.3(SH3TC2):c.*19519G>A
|
rs10039839 |
|
NM_024577.3(SH3TC2):c.*19563_*19564dup
|
rs5872105 |
|
NM_024577.3(SH3TC2):c.*19564dup
|
rs5872105 |
|
NM_024577.3(SH3TC2):c.*19573G>A
|
rs4560536 |
|
NM_024577.3(SH3TC2):c.*1979C>T
|
rs886060181 |
|
NM_024577.3(SH3TC2):c.*1982C>A
|
rs535127091 |
|
NM_024577.3(SH3TC2):c.*19919T>C
|
rs2217638 |
|
NM_024577.3(SH3TC2):c.*19989G>A
|
rs560779315 |
|
NM_024577.3(SH3TC2):c.*20142A>G
|
rs189978591 |
|
NM_024577.3(SH3TC2):c.*20166T>A
|
rs17795091 |
|
NM_024577.3(SH3TC2):c.*20362T>C
|
rs571268825 |
|
NM_024577.3(SH3TC2):c.*20412A>T
|
rs774453230 |
|
NM_024577.3(SH3TC2):c.*20463T>C
|
rs77021631 |
|
NM_024577.3(SH3TC2):c.*20469C>T
|
rs886060097 |
|
NM_024577.3(SH3TC2):c.*20564A>T
|
rs150905092 |
|
NM_024577.3(SH3TC2):c.*20773G>T
|
rs113020040 |
|
NM_024577.3(SH3TC2):c.*2081T>G
|
rs543206033 |
|
NM_024577.3(SH3TC2):c.*20919_*20920del
|
rs886060096 |
|
NM_024577.3(SH3TC2):c.*210C>A
|
rs886060192 |
|
NM_024577.3(SH3TC2):c.*21118G>T
|
rs886060095 |
|
NM_024577.3(SH3TC2):c.*21395T>C
|
rs886060094 |
|
NM_024577.3(SH3TC2):c.*2141C>T
|
rs535223944 |
|
NM_024577.3(SH3TC2):c.*21472A>G
|
rs59731646 |
|
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC
|
rs146796490 |
|
NM_024577.3(SH3TC2):c.*21532C>A
|
rs763141563 |
|
NM_024577.3(SH3TC2):c.*21539T>C
|
rs542529184 |
|
NM_024577.3(SH3TC2):c.*21658A>G
|
rs145964634 |
|
NM_024577.3(SH3TC2):c.*21703G>A
|
rs761390238 |
|
NM_024577.3(SH3TC2):c.*21728T>C
|
rs142485824 |
|
NM_024577.3(SH3TC2):c.*21786G>A
|
rs6890482 |
|
NM_024577.3(SH3TC2):c.*21955A>G
|
rs575501943 |
|
NM_024577.3(SH3TC2):c.*22034C>T
|
rs886060093 |
|
NM_024577.3(SH3TC2):c.*22035G>A
|
rs544954149 |
|
NM_024577.3(SH3TC2):c.*22168C>G
|
rs886060092 |
|
NM_024577.3(SH3TC2):c.*22199C>T
|
rs778637809 |
|
NM_024577.3(SH3TC2):c.*22212G>A
|
rs149300520 |
|
NM_024577.3(SH3TC2):c.*22291T>C
|
rs886060091 |
|
NM_024577.3(SH3TC2):c.*22357T>C
|
rs191754280 |
|
NM_024577.3(SH3TC2):c.*2248A>G
|
rs187399485 |
|
NM_024577.3(SH3TC2):c.*22552_*22553dup
|
rs55932017 |
|
NM_024577.3(SH3TC2):c.*22553del
|
rs55932017 |
|
NM_024577.3(SH3TC2):c.*22553dup
|
rs55932017 |
|
NM_024577.3(SH3TC2):c.*2341A>G
|
rs531168193 |
|
NM_024577.3(SH3TC2):c.*2361A>T
|
rs146327509 |
|
NM_024577.3(SH3TC2):c.*2394C>T
|
rs368101139 |
|
NM_024577.3(SH3TC2):c.*2397G>A
|
rs17722155 |
|
NM_024577.3(SH3TC2):c.*2428C>T
|
rs149384180 |
|
NM_024577.3(SH3TC2):c.*2500C>A
|
rs559833500 |
|
NM_024577.3(SH3TC2):c.*2624A>G
|
rs762855152 |
|
NM_024577.3(SH3TC2):c.*281A>G
|
rs886060191 |
|
NM_024577.3(SH3TC2):c.*2862G>A
|
rs116548620 |
|
NM_024577.3(SH3TC2):c.*2900G>T
|
rs3763019 |
|
NM_024577.3(SH3TC2):c.*2956C>T
|
rs3763020 |
|
NM_024577.3(SH3TC2):c.*2982T>C
|
rs886060180 |
|
NM_024577.3(SH3TC2):c.*2987C>T
|
rs565331463 |
|
NM_024577.3(SH3TC2):c.*3058A>G
|
rs563916447 |
|
NM_024577.3(SH3TC2):c.*3061A>G
|
rs138823547 |
|
NM_024577.3(SH3TC2):c.*3077C>T
|
rs1045942 |
|
NM_024577.3(SH3TC2):c.*3079G>A
|
rs185297430 |
|
NM_024577.3(SH3TC2):c.*3136G>A
|
rs1019927 |
|
NM_024577.3(SH3TC2):c.*3165G>A
|
rs886060179 |
|
NM_024577.3(SH3TC2):c.*3196T>C
|
rs3763022 |
|
NM_024577.3(SH3TC2):c.*3202T>C
|
rs188625202 |
|
NM_024577.3(SH3TC2):c.*3411C>T
|
rs886060178 |
|
NM_024577.3(SH3TC2):c.*341A>G
|
rs868833114 |
|
NM_024577.3(SH3TC2):c.*3430T>A
|
rs184043381 |
|
NM_024577.3(SH3TC2):c.*3694T>A
|
rs115774169 |
|
NM_024577.3(SH3TC2):c.*3860G>A
|
rs1432797 |
|
NM_024577.3(SH3TC2):c.*3903A>G
|
rs750071171 |
|
NM_024577.3(SH3TC2):c.*391G>C
|
rs117139060 |
|
NM_024577.3(SH3TC2):c.*4131T>C
|
rs141113906 |
|
NM_024577.3(SH3TC2):c.*4182A>G
|
rs886060177 |
|
NM_024577.3(SH3TC2):c.*4183T>C
|
rs886060176 |
|
NM_024577.3(SH3TC2):c.*4209A>G
|
rs886060175 |
|
NM_024577.3(SH3TC2):c.*4232G>A
|
rs886060174 |
|
NM_024577.3(SH3TC2):c.*4240C>A
|
rs765837919 |
|
NM_024577.3(SH3TC2):c.*4279C>G
|
rs74578025 |
|
NM_024577.3(SH3TC2):c.*4298C>T
|
rs145849837 |
|
NM_024577.3(SH3TC2):c.*4409T>A
|
rs886060173 |
|
NM_024577.3(SH3TC2):c.*4446G>C
|
rs186152591 |
|
NM_024577.3(SH3TC2):c.*4511T>C
|
rs578024597 |
|
NM_024577.3(SH3TC2):c.*4555A>G
|
rs117287440 |
|
NM_024577.3(SH3TC2):c.*4604G>A
|
rs886060172 |
|
NM_024577.3(SH3TC2):c.*4691C>T
|
rs574710725 |
|
NM_024577.3(SH3TC2):c.*4713G>A
|
rs191742061 |
|
NM_024577.3(SH3TC2):c.*4719C>G
|
rs6885467 |
|
NM_024577.3(SH3TC2):c.*47C>T
|
rs79738100 |
|
NM_024577.3(SH3TC2):c.*4920T>G
|
rs550230926 |
|
NM_024577.3(SH3TC2):c.*4935A>T
|
rs149921013 |
|
NM_024577.3(SH3TC2):c.*5020C>T
|
rs371723580 |
|
NM_024577.3(SH3TC2):c.*5279del
|
rs573168274 |
|
NM_024577.3(SH3TC2):c.*5304G>A
|
rs886060171 |
|
NM_024577.3(SH3TC2):c.*5305C>A
|
rs886060170 |
|
NM_024577.3(SH3TC2):c.*5368C>T
|
rs189202481 |
|
NM_024577.3(SH3TC2):c.*5419G>A
|
rs886060169 |
|
NM_024577.3(SH3TC2):c.*5490G>A
|
rs1432795 |
|
NM_024577.3(SH3TC2):c.*5576C>T
|
rs886060168 |
|
NM_024577.3(SH3TC2):c.*5634C>A
|
rs565468168 |
|
NM_024577.3(SH3TC2):c.*5666A>G
|
rs749263197 |
|
NM_024577.3(SH3TC2):c.*5689A>C
|
rs537285537 |
|
NM_024577.3(SH3TC2):c.*5740C>T
|
rs886060167 |
|
NM_024577.3(SH3TC2):c.*5747C>T
|
rs886060166 |
|
NM_024577.3(SH3TC2):c.*578C>T
|
rs567100275 |
|
NM_024577.3(SH3TC2):c.*5799C>T
|
rs17109208 |
|
NM_024577.3(SH3TC2):c.*5933G>A
|
rs886060165 |
|
NM_024577.3(SH3TC2):c.*5999G>A
|
rs79866394 |
|
NM_024577.3(SH3TC2):c.*6047T>A
|
rs139490756 |
|
NM_024577.3(SH3TC2):c.*6051G>A
|
rs146293131 |
|
NM_024577.3(SH3TC2):c.*6104C>T
|
rs556527140 |
|
NM_024577.3(SH3TC2):c.*6162C>T
|
rs17795115 |
|
NM_024577.3(SH3TC2):c.*623T>C
|
rs886060190 |
|
NM_024577.3(SH3TC2):c.*6242A>G
|
rs142279453 |
|
NM_024577.3(SH3TC2):c.*626G>A
|
rs781581124 |
|
NM_024577.3(SH3TC2):c.*6301C>T
|
rs188143654 |
|
NM_024577.3(SH3TC2):c.*6302T>A
|
rs545169695 |
|
NM_024577.3(SH3TC2):c.*6350G>A
|
rs184940808 |
|
NM_024577.3(SH3TC2):c.*6392C>A
|
rs114817736 |
|
NM_024577.3(SH3TC2):c.*6436G>T
|
rs11168079 |
|
NM_024577.3(SH3TC2):c.*6470T>C
|
rs185164450 |
|
NM_024577.3(SH3TC2):c.*6510G>A
|
rs116056843 |
|
NM_024577.3(SH3TC2):c.*6557T>C
|
rs199797914 |
|
NM_024577.3(SH3TC2):c.*6563_*6564del
|
rs368030230 |
|
NM_024577.3(SH3TC2):c.*6623G>A
|
rs78100143 |
|
NM_024577.3(SH3TC2):c.*6682G>C
|
rs557452648 |
|
NM_024577.3(SH3TC2):c.*6692A>G
|
rs11168078 |
|
NM_024577.3(SH3TC2):c.*6820T>C
|
rs60176324 |
|
NM_024577.3(SH3TC2):c.*6836T>C
|
rs757138006 |
|
NM_024577.3(SH3TC2):c.*6873_*6875delACA
|
rs567997802 |
|
NM_024577.3(SH3TC2):c.*6993T>C
|
rs563203537 |
|
NM_024577.3(SH3TC2):c.*7006T>C
|
rs187720692 |
|
NM_024577.3(SH3TC2):c.*7021_*7025delATATT
|
rs886060164 |
|
NM_024577.3(SH3TC2):c.*711A>C
|
rs567593663 |
|
NM_024577.3(SH3TC2):c.*7189C>G
|
rs886060163 |
|
NM_024577.3(SH3TC2):c.*7197G>C
|
rs886060162 |
|
NM_024577.3(SH3TC2):c.*719G>A
|
rs10050933 |
|
NM_024577.3(SH3TC2):c.*7256A>C
|
rs886060161 |
|
NM_024577.3(SH3TC2):c.*7269A>G
|
rs763490898 |
|
NM_024577.3(SH3TC2):c.*7285G>C
|
rs886060160 |
|
NM_024577.3(SH3TC2):c.*7291G>A
|
rs748202204 |
|
NM_024577.3(SH3TC2):c.*7292C>T
|
rs1347130 |
|
NM_024577.3(SH3TC2):c.*7391A>C
|
rs886060159 |
|
NM_024577.3(SH3TC2):c.*7394A>G
|
rs886060158 |
|
NM_024577.3(SH3TC2):c.*7452G>A
|
rs761137746 |
|
NM_024577.3(SH3TC2):c.*7570G>A
|
rs886060157 |
|
NM_024577.3(SH3TC2):c.*7939C>A
|
rs144288040 |
|
NM_024577.3(SH3TC2):c.*8053G>A
|
rs115027318 |
|
NM_024577.3(SH3TC2):c.*8077A>G
|
rs886060156 |
|
NM_024577.3(SH3TC2):c.*8111A>C
|
rs17109205 |
|
NM_024577.3(SH3TC2):c.*8216T>C
|
rs886060155 |
|
NM_024577.3(SH3TC2):c.*8217A>G
|
rs768467653 |
|
NM_024577.3(SH3TC2):c.*8248G>C
|
rs56309414 |
|
NM_024577.3(SH3TC2):c.*8277G>A
|
rs147532508 |
|
NM_024577.3(SH3TC2):c.*8283A>T
|
rs780934660 |
|
NM_024577.3(SH3TC2):c.*8313G>A
|
rs770951592 |
|
NM_024577.3(SH3TC2):c.*8364C>T
|
rs886060154 |
|
NM_024577.3(SH3TC2):c.*837G>A
|
rs565462353 |
|
NM_024577.3(SH3TC2):c.*839del
|
rs886060189 |
|
NM_024577.3(SH3TC2):c.*8423T>C
|
rs10036103 |
|
NM_024577.3(SH3TC2):c.*8438_*8439delCT
|
rs146811206 |
|
NM_024577.3(SH3TC2):c.*8438_*8439dupCT
|
rs146811206 |
|
NM_024577.3(SH3TC2):c.*8521C>A
|
rs886060152 |
|
NM_024577.3(SH3TC2):c.*8567G>A
|
rs369239776 |
|
NM_024577.3(SH3TC2):c.*858_*861del
|
rs5872107 |
|
NM_024577.3(SH3TC2):c.*8622del
|
rs562125931 |
|
NM_024577.3(SH3TC2):c.*862del
|
rs886060188 |
|
NM_024577.3(SH3TC2):c.*862dup
|
rs886060187 |
|
NM_024577.3(SH3TC2):c.*86C>T
|
rs886060194 |
|
NM_024577.3(SH3TC2):c.*8748G>A
|
rs190904760 |
|
NM_024577.3(SH3TC2):c.*8756G>T
|
rs7733177 |
|
NM_024577.3(SH3TC2):c.*882G>A
|
rs775429372 |
|
NM_024577.3(SH3TC2):c.*8878T>A
|
rs886060151 |
|
NM_024577.3(SH3TC2):c.*9073G>C
|
rs886060150 |
|
NM_024577.3(SH3TC2):c.*9121del
|
rs886060149 |
|
NM_024577.3(SH3TC2):c.*9233T>A
|
rs886060148 |
|
NM_024577.3(SH3TC2):c.*929G>C
|
rs1432798 |
|
NM_024577.3(SH3TC2):c.*932T>A
|
rs886060186 |
|
NM_024577.3(SH3TC2):c.*9340G>C
|
rs886060147 |
|
NM_024577.3(SH3TC2):c.*9357T>G
|
rs147996031 |
|
NM_024577.3(SH3TC2):c.*9361C>T
|
rs573872364 |
|
NM_024577.3(SH3TC2):c.*9503C>T
|
rs533786708 |
|
NM_024577.3(SH3TC2):c.*9830C>T
|
rs557247993 |
|
NM_024577.3(SH3TC2):c.*9953C>T
|
rs535186520 |
|
NM_024577.3(SH3TC2):c.*9969T>C
|
rs761191045 |
|
NM_024577.3(SH3TC2):c.*9969_*9972del
|
rs113518050 |
|
NM_024577.3(SH3TC2):c.*9972T>C
|
rs778531473 |
|
NM_024577.3(SH3TC2):c.*9974_*9977ATCC[14]
|
rs201323132 |
|
NM_024577.3(SH3TC2):c.*9980_*9981insTATT
|
rs1554119372 |
|
NM_024577.3(SH3TC2):c.*99G>A
|
rs886060193 |
|
NM_024577.3(SH3TC2):c.-92C>T
|
rs886060200 |
|
NM_024577.3(SH3TC2):c.1002-7G>A
|
rs752528409 |
|
NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719 |
|
NM_024577.3(SH3TC2):c.1177+10G>A
|
rs139257109 |
|
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=)
|
rs1432793 |
|
NM_024577.3(SH3TC2):c.1233_1235dup (p.His411dup)
|
rs886060198 |
|
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159 |
|
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041 |
|
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=)
|
rs17722227 |
|
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276 |
|
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser)
|
rs6875902 |
|
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val)
|
rs6874630 |
|
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321 |
|
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=)
|
rs1432794 |
|
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776 |
|
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175 |
|
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272 |
|
NM_024577.3(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626 |
|
NM_024577.3(SH3TC2):c.1831C>A (p.His611Asn)
|
rs886060197 |
|
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=)
|
rs138411915 |
|
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801 |
|
NM_024577.3(SH3TC2):c.1889C>T (p.Pro630Leu)
|
rs749260578 |
|
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069 |
|
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075 |
|
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394 |
|
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg)
|
rs17109261 |
|
NM_024577.3(SH3TC2):c.2094C>T (p.Ile698=)
|
rs886060196 |
|
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=)
|
rs78120278 |
|
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706 |
|
NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys)
|
rs764436192 |
|
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=)
|
rs17795193 |
|
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765 |
|
NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe)
|
rs764616291 |
|
NM_024577.3(SH3TC2):c.255C>T (p.Asp85=)
|
rs886060199 |
|
NM_024577.3(SH3TC2):c.2657G>A (p.Ser886Asn)
|
rs780085307 |
|
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727 |
|
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys)
|
rs73795753 |
|
NM_024577.3(SH3TC2):c.280-5C>T
|
rs201937366 |
|
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852 |
|
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908 |
|
NM_024577.3(SH3TC2):c.2872+9G>A
|
rs76488338 |
|
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=)
|
rs13436308 |
|
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556 |
|
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710 |
|
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843 |
|
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=)
|
rs193067884 |
|
NM_024577.3(SH3TC2):c.3303G>A (p.Arg1101=)
|
rs755006924 |
|
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910 |
|
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val)
|
rs115577291 |
|
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433 |
|
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn)
|
rs150805608 |
|
NM_024577.3(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248 |
|
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile)
|
rs55853803 |
|
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273 |
|
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=)
|
rs6871030 |
|
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=)
|
rs6871030 |
|
NM_024577.3(SH3TC2):c.3600G>A (p.Leu1200=)
|
rs886060195 |
|
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285 |
|
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=)
|
rs144873879 |
|
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600 |
|
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=)
|
rs117804174 |
|
NM_024577.3(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792 |
|
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=)
|
rs77574155 |
|
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu)
|
rs17722293 |
|
NM_024577.3(SH3TC2):c.529+7G>A
|
rs747615694 |
|
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935 |
|
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=)
|
rs141289653 |
|
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=)
|
rs80227512 |
|
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904 |
|
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732 |
|
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala)
|
rs141649676 |
|
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875 |
|
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val)
|
rs753423455 |
|
NM_024577.4(SH3TC2):c.*10014T>A
|
|
|
NM_024577.4(SH3TC2):c.*10064C>T
|
|
|
NM_024577.4(SH3TC2):c.*10068C>A
|
|
|
NM_024577.4(SH3TC2):c.*10111T>C
|
|
|
NM_024577.4(SH3TC2):c.*10113T>C
|
|
|
NM_024577.4(SH3TC2):c.*10230A>C
|
|
|
NM_024577.4(SH3TC2):c.*10395A>G
|
|
|
NM_024577.4(SH3TC2):c.*10560T>C
|
|
|
NM_024577.4(SH3TC2):c.*10614G>A
|
|
|
NM_024577.4(SH3TC2):c.*10672A>C
|
|
|
NM_024577.4(SH3TC2):c.*10765A>G
|
|
|
NM_024577.4(SH3TC2):c.*1079T>C
|
|
|
NM_024577.4(SH3TC2):c.*10802A>T
|
|
|
NM_024577.4(SH3TC2):c.*11299C>G
|
|
|
NM_024577.4(SH3TC2):c.*11357G>A
|
|
|
NM_024577.4(SH3TC2):c.*11427G>A
|
|
|
NM_024577.4(SH3TC2):c.*11589C>T
|
|
|
NM_024577.4(SH3TC2):c.*11604G>A
|
|
|
NM_024577.4(SH3TC2):c.*11680C>T
|
|
|
NM_024577.4(SH3TC2):c.*11803A>G
|
|
|
NM_024577.4(SH3TC2):c.*11927T>C
|
|
|
NM_024577.4(SH3TC2):c.*11934A>G
|
|
|
NM_024577.4(SH3TC2):c.*12009T>C
|
|
|
NM_024577.4(SH3TC2):c.*12010C>A
|
|
|
NM_024577.4(SH3TC2):c.*12111C>A
|
|
|
NM_024577.4(SH3TC2):c.*12189C>T
|
|
|
NM_024577.4(SH3TC2):c.*12190G>A
|
|
|
NM_024577.4(SH3TC2):c.*12256G>T
|
|
|
NM_024577.4(SH3TC2):c.*12356A>T
|
|
|
NM_024577.4(SH3TC2):c.*12442A>G
|
|
|
NM_024577.4(SH3TC2):c.*1246G>A
|
|
|
NM_024577.4(SH3TC2):c.*12550A>G
|
|
|
NM_024577.4(SH3TC2):c.*12710G>A
|
|
|
NM_024577.4(SH3TC2):c.*13037G>A
|
|
|
NM_024577.4(SH3TC2):c.*13204A>G
|
|
|
NM_024577.4(SH3TC2):c.*13292G>T
|
|
|
NM_024577.4(SH3TC2):c.*13418G>T
|
|
|
NM_024577.4(SH3TC2):c.*13645C>T
|
|
|
NM_024577.4(SH3TC2):c.*14182A>G
|
|
|
NM_024577.4(SH3TC2):c.*14188C>T
|
|
|
NM_024577.4(SH3TC2):c.*1421A>C
|
|
|
NM_024577.4(SH3TC2):c.*14315A>C
|
|
|
NM_024577.4(SH3TC2):c.*14397A>C
|
|
|
NM_024577.4(SH3TC2):c.*14450A>C
|
|
|
NM_024577.4(SH3TC2):c.*14480A>G
|
|
|
NM_024577.4(SH3TC2):c.*14750A>G
|
|
|
NM_024577.4(SH3TC2):c.*15049A>T
|
|
|
NM_024577.4(SH3TC2):c.*15385A>G
|
|
|
NM_024577.4(SH3TC2):c.*1545A>G
|
|
|
NM_024577.4(SH3TC2):c.*15483T>C
|
|
|
NM_024577.4(SH3TC2):c.*15639A>G
|
|
|
NM_024577.4(SH3TC2):c.*15877G>T
|
|
|
NM_024577.4(SH3TC2):c.*15967C>T
|
|
|
NM_024577.4(SH3TC2):c.*16015G>T
|
|
|
NM_024577.4(SH3TC2):c.*1616C>T
|
|
|
NM_024577.4(SH3TC2):c.*16174A>G
|
|
|
NM_024577.4(SH3TC2):c.*16293C>G
|
|
|
NM_024577.4(SH3TC2):c.*16395G>T
|
|
|
NM_024577.4(SH3TC2):c.*16402G>T
|
|
|
NM_024577.4(SH3TC2):c.*16557T>A
|
|
|
NM_024577.4(SH3TC2):c.*16590A>G
|
|
|
NM_024577.4(SH3TC2):c.*16720T>G
|
|
|
NM_024577.4(SH3TC2):c.*16953T>C
|
|
|
NM_024577.4(SH3TC2):c.*17049C>G
|
|
|
NM_024577.4(SH3TC2):c.*1720T>A
|
|
|
NM_024577.4(SH3TC2):c.*17301T>A
|
|
|
NM_024577.4(SH3TC2):c.*17482A>G
|
|
|
NM_024577.4(SH3TC2):c.*1765G>C
|
|
|
NM_024577.4(SH3TC2):c.*17837T>G
|
|
|
NM_024577.4(SH3TC2):c.*1787G>C
|
|
|
NM_024577.4(SH3TC2):c.*17934T>C
|
|
|
NM_024577.4(SH3TC2):c.*18055C>A
|
|
|
NM_024577.4(SH3TC2):c.*18471A>G
|
|
|
NM_024577.4(SH3TC2):c.*18699T>G
|
|
|
NM_024577.4(SH3TC2):c.*18824T>C
|
|
|
NM_024577.4(SH3TC2):c.*19019T>C
|
|
|
NM_024577.4(SH3TC2):c.*19111G>T
|
|
|
NM_024577.4(SH3TC2):c.*19137C>G
|
|
|
NM_024577.4(SH3TC2):c.*1917C>T
|
|
|
NM_024577.4(SH3TC2):c.*19438C>A
|
|
|
NM_024577.4(SH3TC2):c.*19552G>T
|
|
|
NM_024577.4(SH3TC2):c.*19631T>A
|
|
|
NM_024577.4(SH3TC2):c.*2004A>G
|
|
|
NM_024577.4(SH3TC2):c.*20086A>G
|
|
|
NM_024577.4(SH3TC2):c.*20099T>C
|
|
|
NM_024577.4(SH3TC2):c.*20135C>T
|
|
|
NM_024577.4(SH3TC2):c.*20207C>T
|
|
|
NM_024577.4(SH3TC2):c.*20230G>T
|
|
|
NM_024577.4(SH3TC2):c.*20400A>C
|
|
|
NM_024577.4(SH3TC2):c.*20512C>A
|
|
|
NM_024577.4(SH3TC2):c.*20553A>G
|
|
|
NM_024577.4(SH3TC2):c.*20618C>T
|
|
|
NM_024577.4(SH3TC2):c.*2065C>T
|
|
|
NM_024577.4(SH3TC2):c.*20787G>A
|
|
|
NM_024577.4(SH3TC2):c.*20882A>G
|
|
|
NM_024577.4(SH3TC2):c.*20935C>G
|
|
|
NM_024577.4(SH3TC2):c.*20966T>G
|
|
|
NM_024577.4(SH3TC2):c.*21087A>G
|
|
|
NM_024577.4(SH3TC2):c.*21119G>T
|
|
|
NM_024577.4(SH3TC2):c.*21149A>G
|
|
|
NM_024577.4(SH3TC2):c.*2118G>A
|
|
|
NM_024577.4(SH3TC2):c.*21281T>G
|
|
|
NM_024577.4(SH3TC2):c.*21371A>G
|
|
|
NM_024577.4(SH3TC2):c.*22208T>C
|
|
|
NM_024577.4(SH3TC2):c.*2237G>A
|
|
|
NM_024577.4(SH3TC2):c.*22505G>T
|
|
|
NM_024577.4(SH3TC2):c.*2269G>T
|
|
|
NM_024577.4(SH3TC2):c.*2716T>C
|
|
|
NM_024577.4(SH3TC2):c.*2729T>C
|
|
|
NM_024577.4(SH3TC2):c.*2921G>A
|
|
|
NM_024577.4(SH3TC2):c.*2923A>G
|
|
|
NM_024577.4(SH3TC2):c.*3034A>C
|
|
|
NM_024577.4(SH3TC2):c.*3035C>A
|
|
|
NM_024577.4(SH3TC2):c.*3246A>C
|
|
|
NM_024577.4(SH3TC2):c.*3313G>A
|
|
|
NM_024577.4(SH3TC2):c.*3419C>T
|
|
|
NM_024577.4(SH3TC2):c.*3438T>C
|
|
|
NM_024577.4(SH3TC2):c.*3464C>T
|
|
|
NM_024577.4(SH3TC2):c.*3497G>A
|
|
|
NM_024577.4(SH3TC2):c.*3589G>T
|
|
|
NM_024577.4(SH3TC2):c.*3707C>T
|
|
|
NM_024577.4(SH3TC2):c.*3946C>A
|
|
|
NM_024577.4(SH3TC2):c.*3993G>C
|
|
|
NM_024577.4(SH3TC2):c.*39A>C
|
|
|
NM_024577.4(SH3TC2):c.*4052T>C
|
|
|
NM_024577.4(SH3TC2):c.*44G>A
|
|
|
NM_024577.4(SH3TC2):c.*4576G>T
|
|
|
NM_024577.4(SH3TC2):c.*4603C>T
|
|
|
NM_024577.4(SH3TC2):c.*4638A>T
|
|
|
NM_024577.4(SH3TC2):c.*4947G>A
|
|
|
NM_024577.4(SH3TC2):c.*4975T>C
|
|
|
NM_024577.4(SH3TC2):c.*5264G>A
|
|
|
NM_024577.4(SH3TC2):c.*5277G>T
|
|
|
NM_024577.4(SH3TC2):c.*5350G>A
|
|
|
NM_024577.4(SH3TC2):c.*5536T>G
|
|
|
NM_024577.4(SH3TC2):c.*5741G>A
|
|
|
NM_024577.4(SH3TC2):c.*5748G>A
|
|
|
NM_024577.4(SH3TC2):c.*574A>C
|
|
|
NM_024577.4(SH3TC2):c.*5820A>G
|
|
|
NM_024577.4(SH3TC2):c.*5947C>G
|
|
|
NM_024577.4(SH3TC2):c.*6382T>C
|
|
|
NM_024577.4(SH3TC2):c.*6392C>T
|
|
|
NM_024577.4(SH3TC2):c.*651C>A
|
|
|
NM_024577.4(SH3TC2):c.*6600T>C
|
|
|
NM_024577.4(SH3TC2):c.*6627C>T
|
|
|
NM_024577.4(SH3TC2):c.*7064A>G
|
|
|
NM_024577.4(SH3TC2):c.*7152G>A
|
|
|
NM_024577.4(SH3TC2):c.*7189C>A
|
|
|
NM_024577.4(SH3TC2):c.*7251A>G
|
|
|
NM_024577.4(SH3TC2):c.*7254A>T
|
|
|
NM_024577.4(SH3TC2):c.*7451C>T
|
|
|
NM_024577.4(SH3TC2):c.*7810T>A
|
|
|
NM_024577.4(SH3TC2):c.*7877A>G
|
|
|
NM_024577.4(SH3TC2):c.*7898A>G
|
|
|
NM_024577.4(SH3TC2):c.*7917A>G
|
|
|
NM_024577.4(SH3TC2):c.*7918C>T
|
|
|
NM_024577.4(SH3TC2):c.*797A>G
|
|
|
NM_024577.4(SH3TC2):c.*8038A>G
|
|
|
NM_024577.4(SH3TC2):c.*8261G>A
|
|
|
NM_024577.4(SH3TC2):c.*8349T>C
|
|
|
NM_024577.4(SH3TC2):c.*8533A>G
|
|
|
NM_024577.4(SH3TC2):c.*8649A>G
|
|
|
NM_024577.4(SH3TC2):c.*8692T>C
|
|
|
NM_024577.4(SH3TC2):c.*9026A>T
|
|
|
NM_024577.4(SH3TC2):c.*9034A>G
|
|
|
NM_024577.4(SH3TC2):c.*9122G>A
|
|
|
NM_024577.4(SH3TC2):c.*9193A>G
|
|
|
NM_024577.4(SH3TC2):c.*921C>T
|
|
|
NM_024577.4(SH3TC2):c.*9357T>C
|
|
|
NM_024577.4(SH3TC2):c.*9445A>G
|
|
|
NM_024577.4(SH3TC2):c.*9466A>C
|
|
|
NM_024577.4(SH3TC2):c.*9504G>A
|
|
|
NM_024577.4(SH3TC2):c.*9872T>C
|
|
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
|
|
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=)
|
rs117860293 |
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
|
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720 |
|
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)
|
|
|
NM_030962.3(SBF2):c.*1091G>A
|
|
|
NM_030962.3(SBF2):c.*112G>A
|
rs144513995 |
|
NM_030962.3(SBF2):c.*1144A>G
|
rs3751001 |
|
NM_030962.3(SBF2):c.*1255G>A
|
rs886048774 |
|
NM_030962.3(SBF2):c.*1315A>C
|
|
|
NM_030962.3(SBF2):c.*1364C>T
|
rs10118 |
|
NM_030962.3(SBF2):c.*1399T>C
|
rs60154961 |
|
NM_030962.3(SBF2):c.*1405T>C
|
|
|
NM_030962.3(SBF2):c.*1413A>G
|
rs59613534 |
|
NM_030962.3(SBF2):c.*1439C>A
|
rs531522907 |
|
NM_030962.3(SBF2):c.*1441C>T
|
rs562275980 |
|
NM_030962.3(SBF2):c.*1495T>C
|
|
|
NM_030962.3(SBF2):c.*1515G>A
|
rs1045634 |
|
NM_030962.3(SBF2):c.*154C>T
|
|
|
NM_030962.3(SBF2):c.*1619A>C
|
rs360126 |
|
NM_030962.3(SBF2):c.*1686G>A
|
rs376521838 |
|
NM_030962.3(SBF2):c.*177A>C
|
rs192542785 |
|
NM_030962.3(SBF2):c.*19G>A
|
rs770446132 |
|
NM_030962.3(SBF2):c.*291C>T
|
rs114604750 |
|
NM_030962.3(SBF2):c.*305A>G
|
|
|
NM_030962.3(SBF2):c.*375G>A
|
rs533676532 |
|
NM_030962.3(SBF2):c.*375G>C
|
rs533676532 |
|
NM_030962.3(SBF2):c.*40A>C
|
rs3751000 |
|
NM_030962.3(SBF2):c.*418T>C
|
|
|
NM_030962.3(SBF2):c.*447A>T
|
|
|
NM_030962.3(SBF2):c.*480G>A
|
rs148002177 |
|
NM_030962.3(SBF2):c.*514C>T
|
rs3829252 |
|
NM_030962.3(SBF2):c.*51T>C
|
rs41275194 |
|
NM_030962.3(SBF2):c.*608G>C
|
|
|
NM_030962.3(SBF2):c.*631T>C
|
rs573284772 |
|
NM_030962.3(SBF2):c.*730G>A
|
rs886048777 |
|
NM_030962.3(SBF2):c.*731T>A
|
|
|
NM_030962.3(SBF2):c.*78G>C
|
|
|
NM_030962.3(SBF2):c.*875G>A
|
rs886048776 |
|
NM_030962.3(SBF2):c.*882T>C
|
rs886048775 |
|
NM_030962.3(SBF2):c.*963C>T
|
|
|
NM_030962.3(SBF2):c.-101A>C
|
rs886047577 |
|
NM_030962.3(SBF2):c.-106C>T
|
rs886047578 |
|
NM_030962.3(SBF2):c.-118G>T
|
rs563422015 |
|
NM_030962.3(SBF2):c.-128C>T
|
rs886047579 |
|
NM_030962.3(SBF2):c.-27C>T
|
|
|
NM_030962.3(SBF2):c.-37G>T
|
rs756232914 |
|
NM_030962.3(SBF2):c.-49G>A
|
|
|
NM_030962.3(SBF2):c.-64C>T
|
|
|
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter)
|
rs1565106242 |
|
NM_030962.3(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805 |
|
NM_030962.3(SBF2):c.1296+13T>C
|
|
|
NM_030962.3(SBF2):c.129G>A (p.Gln43=)
|
rs761285505 |
|
NM_030962.3(SBF2):c.1408C>A (p.Pro470Thr)
|
|
|
NM_030962.3(SBF2):c.1413T>A (p.His471Gln)
|
|
|
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823 |
|
NM_030962.3(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975 |
|
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120 |
|
NM_030962.3(SBF2):c.1601-4C>G
|
rs886048784 |
|
NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327 |
|
NM_030962.3(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939 |
|
NM_030962.3(SBF2):c.1861-6T>C
|
|
|
NM_030962.3(SBF2):c.1897G>A (p.Ala633Thr)
|
|
|
NM_030962.3(SBF2):c.1971A>G (p.Val657=)
|
rs368639697 |
|
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys)
|
rs7102464 |
|
NM_030962.3(SBF2):c.2100+7G>A
|
rs370918433 |
|
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888 |
|
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687 |
|
NM_030962.3(SBF2):c.2337C>T (p.Ser779=)
|
rs140730386 |
|
NM_030962.3(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730 |
|
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys)
|
rs886047576 |
|
NM_030962.3(SBF2):c.2424T>A (p.Asn808Lys)
|
rs146868794 |
|
NM_030962.3(SBF2):c.2457T>G (p.Ile819Met)
|
rs746363004 |
|
NM_030962.3(SBF2):c.2474A>G (p.Lys825Arg)
|
rs753921188 |
|
NM_030962.3(SBF2):c.2537-5C>T
|
rs886048783 |
|
NM_030962.3(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877 |
|
NM_030962.3(SBF2):c.2600C>T (p.Pro867Leu)
|
rs370198639 |
|
NM_030962.3(SBF2):c.2610+11A>G
|
|
|
NM_030962.3(SBF2):c.2611-35AATC[4]
|
rs202029370 |
|
NM_030962.3(SBF2):c.2669G>A (p.Arg890Gln)
|
rs755699993 |
|
NM_030962.3(SBF2):c.2850C>T (p.Ile950=)
|
rs74642088 |
|
NM_030962.3(SBF2):c.2863A>G (p.Lys955Glu)
|
|
|
NM_030962.3(SBF2):c.2870C>A (p.Thr957Lys)
|
rs886048782 |
|
NM_030962.3(SBF2):c.3001A>T (p.Met1001Leu)
|
rs781742897 |
|
NM_030962.3(SBF2):c.3003G>A (p.Met1001Ile)
|
|
|
NM_030962.3(SBF2):c.3006G>T (p.Lys1002Asn)
|
rs572884226 |
|
NM_030962.3(SBF2):c.3016C>T (p.Pro1006Ser)
|
rs886048781 |
|
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=)
|
rs111967328 |
|
NM_030962.3(SBF2):c.3111-6T>C
|
rs16907139 |
|
NM_030962.3(SBF2):c.3163A>G (p.Ile1055Val)
|
rs142891020 |
|
NM_030962.3(SBF2):c.3257-5C>G
|
rs886048780 |
|
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081 |
|
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val)
|
rs117957652 |
|
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622 |
|
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508 |
|
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004 |
|
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340 |
|
NM_030962.3(SBF2):c.3811C>T (p.Arg1271Cys)
|
|
|
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367 |
|
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248 |
|
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696 |
|
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665 |
|
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931 |
|
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577 |
|
NM_030962.3(SBF2):c.409C>G (p.Leu137Val)
|
|
|
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402 |
|
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053 |
|
NM_030962.3(SBF2):c.440G>A (p.Ser147Asn)
|
|
|
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330 |
|
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068 |
|
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271 |
|
NM_030962.3(SBF2):c.4571-6C>T
|
rs2645029 |
|
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser)
|
rs371960255 |
|
NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg)
|
rs775360425 |
|
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322 |
|
NM_030962.3(SBF2):c.4825T>G (p.Ser1609Ala)
|
|
|
NM_030962.3(SBF2):c.48G>A (p.Glu16=)
|
rs889453292 |
|
NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn)
|
rs754078134 |
|
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=)
|
rs757095964 |
|
NM_030962.3(SBF2):c.4933-15T>C
|
rs75447733 |
|
NM_030962.3(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413 |
|
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413 |
|
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys)
|
rs79401259 |
|
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979 |
|
NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter)
|
rs1343702415 |
|
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559 |
|
NM_030962.3(SBF2):c.513+5A>G
|
|
|
NM_030962.3(SBF2):c.5135G>A (p.Gly1712Glu)
|
|
|
NM_030962.3(SBF2):c.514-12C>T
|
rs770141264 |
|
NM_030962.3(SBF2):c.5179C>G (p.Arg1727Gly)
|
|
|
NM_030962.3(SBF2):c.5231+13A>G
|
|
|
NM_030962.3(SBF2):c.5231+14C>T
|
rs371184526 |
|
NM_030962.3(SBF2):c.5232-7C>A
|
rs752774091 |
|
NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile)
|
rs886048779 |
|
NM_030962.3(SBF2):c.546G>T (p.Gln182His)
|
rs886047534 |
|
NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr)
|
rs886048778 |
|
NM_030962.3(SBF2):c.645T>C (p.Phe215=)
|
rs148187321 |
|
NM_030962.3(SBF2):c.705T>C (p.Ser235=)
|
rs143209062 |
|
NM_030962.3(SBF2):c.777G>A (p.Pro259=)
|
rs142261202 |
|
NM_030962.3(SBF2):c.810G>A (p.Thr270=)
|
|
|
NM_030962.3(SBF2):c.909C>T (p.Pro303=)
|
rs16907355 |
|
NM_030962.3(SBF2):c.93T>C (p.Phe31=)
|
rs200263159 |
|
NM_030962.3(SBF2):c.942A>G (p.Pro314=)
|
rs753903194 |
|
NM_030962.3(SBF2):c.946C>T (p.Leu316=)
|
rs374841593 |
|
NM_138361.5(LRSAM1):c.*121C>T
|
|
|
NM_138361.5(LRSAM1):c.*238G>A
|
rs886063459 |
|
NM_138361.5(LRSAM1):c.*350C>A
|
rs764119919 |
|
NM_138361.5(LRSAM1):c.*356G>A
|
|
|
NM_138361.5(LRSAM1):c.*370C>T
|
|
|
NM_138361.5(LRSAM1):c.*392G>T
|
|
|
NM_138361.5(LRSAM1):c.*501C>T
|
rs886063460 |
|
NM_138361.5(LRSAM1):c.*552A>G
|
|
|
NM_138361.5(LRSAM1):c.*57G>A
|
rs549468112 |
|
NM_138361.5(LRSAM1):c.*588T>A
|
rs886063461 |
|
NM_138361.5(LRSAM1):c.*590T>C
|
rs139260397 |
|
NM_138361.5(LRSAM1):c.*597T>G
|
rs751523580 |
|
NM_138361.5(LRSAM1):c.-127C>A
|
|
|
NM_138361.5(LRSAM1):c.-309A>G
|
rs886063453 |
|
NM_138361.5(LRSAM1):c.-321A>G
|
|
|
NM_138361.5(LRSAM1):c.-338G>A
|
rs886063451 |
|
NM_138361.5(LRSAM1):c.-35C>T
|
|
|
NM_138361.5(LRSAM1):c.-401C>T
|
rs886063450 |
|
NM_138361.5(LRSAM1):c.-458A>G
|
rs760403428 |
|
NM_138361.5(LRSAM1):c.-561C>T
|
|
|
NM_138361.5(LRSAM1):c.-567G>A
|
|
|
NM_138361.5(LRSAM1):c.-575C>T
|
rs116498902 |
|
NM_138361.5(LRSAM1):c.-78C>T
|
rs886063454 |
|
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971 |
|
NM_138361.5(LRSAM1):c.1044-9T>C
|
rs59501881 |
|
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu)
|
rs886063457 |
|
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
|
|
|
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile)
|
rs373570877 |
|
NM_138361.5(LRSAM1):c.1159+13A>T
|
|
|
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223 |
|
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339 |
|
NM_138361.5(LRSAM1):c.1347+6C>T
|
rs1588128875 |
|
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
|
|
|
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=)
|
rs34426300 |
|
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu)
|
rs145382004 |
|
NM_138361.5(LRSAM1):c.1422+15T>A
|
|
|
NM_138361.5(LRSAM1):c.1504-5C>G
|
rs377190920 |
|
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362 |
|
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114 |
|
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185 |
|
NM_138361.5(LRSAM1):c.1699-3C>T
|
|
|
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=)
|
rs199997686 |
|
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911 |
|
NM_138361.5(LRSAM1):c.1830+6C>T
|
rs75171318 |
|
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser)
|
|
|
NM_138361.5(LRSAM1):c.1912+5A>C
|
rs2248822 |
|
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys)
|
rs201284198 |
|
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=)
|
rs199887448 |
|
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=)
|
rs140336379 |
|
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met)
|
rs140786088 |
|
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897 |
|
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447 |
|
NM_138361.5(LRSAM1):c.2115C>T (p.Thr705=)
|
|
|
NM_138361.5(LRSAM1):c.2134G>A (p.Asp712Asn)
|
|
|
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=)
|
rs2243906 |
|
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127 |
|
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730 |
|
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His)
|
|
|
NM_138361.5(LRSAM1):c.406+15G>T
|
rs201808404 |
|
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His)
|
rs368689811 |
|
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=)
|
rs147205387 |
|
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509 |
|
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu)
|
rs75690855 |
|
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln)
|
rs142782210 |
|
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394 |
|
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu)
|
rs758867006 |
|
NM_138361.5(LRSAM1):c.598A>G (p.Ile200Val)
|
|
|
NM_138361.5(LRSAM1):c.615C>G (p.Cys205Trp)
|
rs886063455 |
|
NM_138361.5(LRSAM1):c.619+13C>T
|
rs148704769 |
|
NM_138361.5(LRSAM1):c.620-3C>T
|
rs373015900 |
|
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102 |
|
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179 |
|
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
|
|
|
NM_138361.5(LRSAM1):c.751-8C>G
|
rs367823841 |
|
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533 |
|
NM_138361.5(LRSAM1):c.904-9C>T
|
rs1539568 |
|
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg)
|
rs140151379 |
|
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn)
|
rs150784835 |
|
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567 |
|
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=)
|
rs200527839 |
|
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg)
|
rs56380300 |
|
NM_138361.5(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400 |
|
NM_139241.3(FGD4):c.*1006C>T
|
rs886049260 |
|
NM_139241.3(FGD4):c.*1007G>A
|
rs114843464 |
|
NM_139241.3(FGD4):c.*1068A>G
|
rs537833755 |
|
NM_139241.3(FGD4):c.*1133A>C
|
rs10844268 |
|
NM_139241.3(FGD4):c.*1148C>T
|
rs56110646 |
|
NM_139241.3(FGD4):c.*1160G>A
|
rs540745195 |
|
NM_139241.3(FGD4):c.*1259A>G
|
|
|
NM_139241.3(FGD4):c.*1274G>A
|
rs570269532 |
|
NM_139241.3(FGD4):c.*131A>G
|
|
|
NM_139241.3(FGD4):c.*1351A>T
|
|
|
NM_139241.3(FGD4):c.*1354A>G
|
rs886049261 |
|
NM_139241.3(FGD4):c.*1356T>G
|
rs886049262 |
|
NM_139241.3(FGD4):c.*1365T>C
|
|
|
NM_139241.3(FGD4):c.*1375C>T
|
|
|
NM_139241.3(FGD4):c.*1454A>G
|
rs7964947 |
|
NM_139241.3(FGD4):c.*1485T>C
|
rs55970127 |
|
NM_139241.3(FGD4):c.*1492T>G
|
rs7980205 |
|
NM_139241.3(FGD4):c.*1530T>C
|
|
|
NM_139241.3(FGD4):c.*1564T>C
|
|
|
NM_139241.3(FGD4):c.*167G>A
|
|
|
NM_139241.3(FGD4):c.*1704C>G
|
rs886049263 |
|
NM_139241.3(FGD4):c.*1723C>T
|
rs4931030 |
|
NM_139241.3(FGD4):c.*1781G>A
|
rs886049264 |
|
NM_139241.3(FGD4):c.*1828A>T
|
rs4931031 |
|
NM_139241.3(FGD4):c.*1866T>G
|
rs886049265 |
|
NM_139241.3(FGD4):c.*1908G>C
|
rs886049266 |
|
NM_139241.3(FGD4):c.*1954A>G
|
rs1239829 |
|
NM_139241.3(FGD4):c.*2026A>G
|
rs765502938 |
|
NM_139241.3(FGD4):c.*2096T>A
|
|
|
NM_139241.3(FGD4):c.*2103A>G
|
rs55963204 |
|
NM_139241.3(FGD4):c.*2192G>A
|
|
|
NM_139241.3(FGD4):c.*2203T>C
|
rs41276678 |
|
NM_139241.3(FGD4):c.*2264G>A
|
|
|
NM_139241.3(FGD4):c.*22G>A
|
rs114284024 |
|
NM_139241.3(FGD4):c.*2309G>A
|
|
|
NM_139241.3(FGD4):c.*2374G>T
|
rs753715337 |
|
NM_139241.3(FGD4):c.*2462C>A
|
rs575272682 |
|
NM_139241.3(FGD4):c.*2487C>A
|
|
|
NM_139241.3(FGD4):c.*2537C>A
|
rs115173894 |
|
NM_139241.3(FGD4):c.*2638A>G
|
rs193167910 |
|
NM_139241.3(FGD4):c.*2648G>A
|
|
|
NM_139241.3(FGD4):c.*27G>A
|
|
|
NM_139241.3(FGD4):c.*2813C>T
|
rs148195158 |
|
NM_139241.3(FGD4):c.*2859G>A
|
|
|
NM_139241.3(FGD4):c.*290G>A
|
rs79732949 |
|
NM_139241.3(FGD4):c.*2928_*2931del
|
rs549931906 |
|
NM_139241.3(FGD4):c.*3022A>G
|
|
|
NM_139241.3(FGD4):c.*3037C>A
|
rs886049267 |
|
NM_139241.3(FGD4):c.*3044T>C
|
rs747748956 |
|
NM_139241.3(FGD4):c.*3113_*3114TA[4]
|
rs57627640 |
|
NM_139241.3(FGD4):c.*3113_*3114TA[6]
|
rs57627640 |
|
NM_139241.3(FGD4):c.*3130G>A
|
rs73087441 |
|
NM_139241.3(FGD4):c.*3130G>T
|
rs73087441 |
|
NM_139241.3(FGD4):c.*3148del
|
rs797002948 |
|
NM_139241.3(FGD4):c.*3150A>G
|
rs542871416 |
|
NM_139241.3(FGD4):c.*3195T>G
|
|
|
NM_139241.3(FGD4):c.*3340A>C
|
rs75320947 |
|
NM_139241.3(FGD4):c.*3367G>T
|
rs188648275 |
|
NM_139241.3(FGD4):c.*3438C>T
|
rs886049269 |
|
NM_139241.3(FGD4):c.*3482G>T
|
rs886049270 |
|
NM_139241.3(FGD4):c.*3543G>C
|
|
|
NM_139241.3(FGD4):c.*3630T>C
|
rs73313005 |
|
NM_139241.3(FGD4):c.*3676A>G
|
rs189489067 |
|
NM_139241.3(FGD4):c.*368T>C
|
|
|
NM_139241.3(FGD4):c.*3770G>T
|
rs11052123 |
|
NM_139241.3(FGD4):c.*3814A>G
|
rs886049271 |
|
NM_139241.3(FGD4):c.*3894_*3895del
|
rs780175220 |
|
NM_139241.3(FGD4):c.*3905A>G
|
rs886049273 |
|
NM_139241.3(FGD4):c.*3920del
|
rs144034303 |
|
NM_139241.3(FGD4):c.*3937A>G
|
|
|
NM_139241.3(FGD4):c.*3940G>A
|
|
|
NM_139241.3(FGD4):c.*3994A>G
|
|
|
NM_139241.3(FGD4):c.*4014C>A
|
|
|
NM_139241.3(FGD4):c.*4028A>G
|
|
|
NM_139241.3(FGD4):c.*4063A>G
|
rs62642552 |
|
NM_139241.3(FGD4):c.*4118G>A
|
|
|
NM_139241.3(FGD4):c.*411A>G
|
rs886049256 |
|
NM_139241.3(FGD4):c.*4128C>T
|
rs12312970 |
|
NM_139241.3(FGD4):c.*4192G>T
|
|
|
NM_139241.3(FGD4):c.*4211T>C
|
rs75583772 |
|
NM_139241.3(FGD4):c.*4268A>G
|
rs542163387 |
|
NM_139241.3(FGD4):c.*4317T>G
|
|
|
NM_139241.3(FGD4):c.*4347T>C
|
|
|
NM_139241.3(FGD4):c.*4369dup
|
rs35874340 |
|
NM_139241.3(FGD4):c.*4438A>G
|
rs11052124 |
|
NM_139241.3(FGD4):c.*4446A>G
|
|
|
NM_139241.3(FGD4):c.*4454G>A
|
rs147515673 |
|
NM_139241.3(FGD4):c.*4497G>A
|
rs367545740 |
|
NM_139241.3(FGD4):c.*4585T>A
|
|
|
NM_139241.3(FGD4):c.*4652T>C
|
rs16920125 |
|
NM_139241.3(FGD4):c.*4756A>G
|
rs763037960 |
|
NM_139241.3(FGD4):c.*4772dup
|
rs567814235 |
|
NM_139241.3(FGD4):c.*4831C>T
|
rs145433607 |
|
NM_139241.3(FGD4):c.*4832G>A
|
|
|
NM_139241.3(FGD4):c.*4862C>A
|
rs886049275 |
|
NM_139241.3(FGD4):c.*4925A>T
|
rs886049276 |
|
NM_139241.3(FGD4):c.*4956T>A
|
rs149215917 |
|
NM_139241.3(FGD4):c.*4977G>C
|
rs575914495 |
|
NM_139241.3(FGD4):c.*497T>C
|
rs886049257 |
|
NM_139241.3(FGD4):c.*4988G>A
|
|
|
NM_139241.3(FGD4):c.*4991A>G
|
rs1239830 |
|
NM_139241.3(FGD4):c.*5020G>C
|
rs886049277 |
|
NM_139241.3(FGD4):c.*5072A>G
|
rs886049278 |
|
NM_139241.3(FGD4):c.*5152C>T
|
rs886049279 |
|
NM_139241.3(FGD4):c.*5153G>A
|
|
|
NM_139241.3(FGD4):c.*5177G>A
|
rs777896036 |
|
NM_139241.3(FGD4):c.*5198G>A
|
rs1133509 |
|
NM_139241.3(FGD4):c.*5223G>A
|
rs886049280 |
|
NM_139241.3(FGD4):c.*5243C>T
|
|
|
NM_139241.3(FGD4):c.*5244G>A
|
rs186014657 |
|
NM_139241.3(FGD4):c.*5265A>G
|
|
|
NM_139241.3(FGD4):c.*5309C>T
|
rs556209722 |
|
NM_139241.3(FGD4):c.*5321G>A
|
|
|
NM_139241.3(FGD4):c.*5329G>C
|
rs886049281 |
|
NM_139241.3(FGD4):c.*5389A>G
|
|
|
NM_139241.3(FGD4):c.*5484T>C
|
rs577630567 |
|
NM_139241.3(FGD4):c.*69T>C
|
|
|
NM_139241.3(FGD4):c.*712C>T
|
|
|
NM_139241.3(FGD4):c.*734G>A
|
rs886049258 |
|
NM_139241.3(FGD4):c.*762G>T
|
rs886049259 |
|
NM_139241.3(FGD4):c.*792A>T
|
rs140601094 |
|
NM_139241.3(FGD4):c.*795G>A
|
rs112398567 |
|
NM_139241.3(FGD4):c.-246+9C>T
|
rs531501340 |
|
NM_139241.3(FGD4):c.-246G>C
|
rs77113168 |
|
NM_139241.3(FGD4):c.-289A>G
|
rs56168193 |
|
NM_139241.3(FGD4):c.-370G>A
|
rs184708096 |
|
NM_139241.3(FGD4):c.-421A>C
|
rs192626243 |
|
NM_139241.3(FGD4):c.-433C>G
|
|
|
NM_139241.3(FGD4):c.-433C>T
|
rs11052033 |
|
NM_139241.3(FGD4):c.-447T>C
|
rs886049252 |
|
NM_139241.3(FGD4):c.-448C>G
|
|
|
NM_139241.3(FGD4):c.-455C>A
|
|
|
NM_139241.3(FGD4):c.-484C>A
|
rs79370524 |
|
NM_139241.3(FGD4):c.1059C>T (p.Pro353=)
|
rs16920084 |
|
NM_139241.3(FGD4):c.1132+13T>C
|
rs762177862 |
|
NM_139241.3(FGD4):c.1191+6T>C
|
|
|
NM_139241.3(FGD4):c.1198C>G (p.Leu400Val)
|
rs750265200 |
|
NM_139241.3(FGD4):c.1305G>A (p.Arg435=)
|
rs10844253 |
|
NM_139241.3(FGD4):c.1339-12C>T
|
rs73083501 |
|
NM_139241.3(FGD4):c.1366C>A (p.Pro456Thr)
|
rs138160928 |
|
NM_139241.3(FGD4):c.1515T>C (p.Ser505=)
|
rs60803891 |
|
NM_139241.3(FGD4):c.1518G>A (p.Ala506=)
|
rs11052110 |
|
NM_139241.3(FGD4):c.1543-8T>C
|
rs115061722 |
|
NM_139241.3(FGD4):c.1560C>T (p.Ile520=)
|
rs61748364 |
|
NM_139241.3(FGD4):c.1569T>C (p.Phe523=)
|
|
|
NM_139241.3(FGD4):c.1636-7T>C
|
rs11052113 |
|
NM_139241.3(FGD4):c.1659C>G (p.Ala553=)
|
rs188104446 |
|
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr)
|
rs144693221 |
|
NM_139241.3(FGD4):c.1711C>G (p.Pro571Ala)
|
rs144693221 |
|
NM_139241.3(FGD4):c.1761+12T>G
|
|
|
NM_139241.3(FGD4):c.1814G>A (p.Gly605Asp)
|
rs886049255 |
|
NM_139241.3(FGD4):c.2095A>G (p.Met699Val)
|
rs140220443 |
|
NM_139241.3(FGD4):c.2149G>A (p.Val717Met)
|
rs61753359 |
|
NM_139241.3(FGD4):c.255A>T (p.Ala85=)
|
rs139357821 |
|
NM_139241.3(FGD4):c.310G>A (p.Glu104Lys)
|
rs752621629 |
|
NM_139241.3(FGD4):c.329T>C (p.Leu110Pro)
|
rs142609007 |
|
NM_139241.3(FGD4):c.374C>T (p.Thr125Met)
|
rs200732890 |
|
NM_139241.3(FGD4):c.398A>G (p.Asp133Gly)
|
rs759415605 |
|
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu)
|
rs904582 |
|
NM_139241.3(FGD4):c.435C>T (p.Asp145=)
|
rs904582 |
|
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp)
|
rs201826412 |
|
NM_139241.3(FGD4):c.50C>G (p.Pro17Arg)
|
rs371407163 |
|
NM_139241.3(FGD4):c.569T>C (p.Leu190Pro)
|
rs144980336 |
|
NM_139241.3(FGD4):c.635A>G (p.Asn212Ser)
|
rs147969494 |
|
NM_139241.3(FGD4):c.731C>T (p.Ser244Leu)
|
|
|
NM_139241.3(FGD4):c.732G>A (p.Ser244=)
|
rs34555341 |
|
NM_139241.3(FGD4):c.836+10G>T
|
rs41276676 |
|
NM_139241.3(FGD4):c.852A>G (p.Arg284=)
|
rs773609461 |
|
NM_139241.3(FGD4):c.885C>T (p.Phe295=)
|
rs151083690 |
|
NM_139241.3(FGD4):c.894G>T (p.Met298Ile)
|
|
|
NM_139241.3(FGD4):c.993+4A>T
|
rs767855809 |
|
NM_139241.3(FGD4):c.993+8G>A
|
rs12823621 |
|
NM_139241.3(FGD4):c.994-4A>G
|
rs886049254 |
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803 |
|
NM_170707.4(LMNA):c.-138T>C
|
rs886045359 |
|
NM_170707.4(LMNA):c.-44T>A
|
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510 |
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223 |
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603 |
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433 |
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816 |
|
NM_170707.4(LMNA):c.1338T>C (p.Asp446=)
|
rs505058 |
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
|
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598 |
|
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu)
|
rs11575937 |
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188 |
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689 |
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745 |
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233 |
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035 |
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264 |
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812 |
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737 |
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569 |
|
NM_170707.4(LMNA):c.1698+83G>A
|
|
|
NM_170707.4(LMNA):c.1698C>T (p.His566=)
|
rs4641 |
|
NM_170707.4(LMNA):c.294G>A (p.Glu98=)
|
rs886045363 |
|
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser)
|
rs886045364 |
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901 |
|
NM_170707.4(LMNA):c.356+12C>A
|
|
|
NM_170707.4(LMNA):c.357C>T (p.Arg119=)
|
rs41313880 |
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230 |
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079 |
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365 |
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668 |
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552 |
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907 |
|
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
|
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444 |
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809 |
|
NM_170707.4(LMNA):c.861T>C (p.Ala287=)
|
rs538089 |
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982 |
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276 |
|
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly)
|
rs775159300 |
|
NM_181882.3(PRX):c.*168C>A
|
|
|
NM_181882.3(PRX):c.*45C>T
|
|
|
NM_181882.3(PRX):c.-100+10C>T
|
|
|
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln)
|
|
|
NM_181882.3(PRX):c.1777A>G (p.Met593Val)
|
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
|
|
NM_181882.3(PRX):c.184+3G>T
|
|
|
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg)
|
|
|
NM_181882.3(PRX):c.1869T>G (p.Leu623=)
|
|
|
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln)
|
|
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
|
|
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu)
|
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
|
|
NM_181882.3(PRX):c.2697C>T (p.Pro899=)
|
|
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166 |
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
|
|
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala)
|
|
|
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
|
|
|
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln)
|
|
|
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu)
|
|
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482 |
|
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr)
|
|
|
NM_181882.3(PRX):c.445G>T (p.Ala149Ser)
|
|
|
NM_181882.3(PRX):c.575G>A (p.Arg192Gln)
|
|
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682 |
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
|
|
NM_181882.3(PRX):c.844G>C (p.Ala282Pro)
|
|
|
NM_181882.3(PRX):c.943C>T (p.Arg315Trp)
|
|
|
NM_181882.3(PRX):c.944G>A (p.Arg315Gln)
|
rs577197549 |
|
NM_201278.3(MTMR2):c.*345_*346CT[1]
|
rs762396029 |