NC_000001.11:g.11980166G>A
|
|
NC_000005.10:g.149063099G>A
|
|
NC_000006.12:g.109691284C>A
|
|
NC_000007.14:g.30594727A>T
|
|
NC_000008.11:g.133297281T>G
|
|
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.*22C>T
|
|
NM_000166.6(GJB1):c.*277A>G
|
|
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.463C>A (p.Leu155Met)
|
rs1057515984 |
NM_000304.3(PMP22):c.-223C>T
|
rs549380262 |
NM_000304.4(PMP22):c.*1049C>G
|
rs750733887 |
NM_000304.4(PMP22):c.*174G>A
|
|
NM_000304.4(PMP22):c.*205C>A
|
rs189734097 |
NM_000304.4(PMP22):c.*243C>T
|
rs533987307 |
NM_000304.4(PMP22):c.*3C>T
|
rs373690370 |
NM_000304.4(PMP22):c.*542C>T
|
rs184928176 |
NM_000304.4(PMP22):c.*544C>T
|
|
NM_000304.4(PMP22):c.*596G>T
|
|
NM_000304.4(PMP22):c.*63A>C
|
|
NM_000304.4(PMP22):c.*818T>C
|
|
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.*961C>G
|
|
NM_000304.4(PMP22):c.*985C>T
|
rs886052610 |
NM_000304.4(PMP22):c.-34-5C>T
|
rs375105159 |
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn)
|
|
NM_000304.4(PMP22):c.344C>T (p.Ala115Val)
|
|
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
|
|
NM_000304.4(PMP22):c.74T>G (p.Val25Gly)
|
|
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.*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.*919G>C
|
rs886047087 |
NM_000399.5(EGR2):c.-299G>A
|
|
NM_000399.5(EGR2):c.-64A>C
|
|
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly)
|
rs886047092 |
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe)
|
rs886047095 |
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.*1074A>C
|
rs886045471 |
NM_000530.8(MPZ):c.*251C>G
|
rs772995394 |
NM_000530.8(MPZ):c.*341A>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.*681A>T
|
rs886045474 |
NM_000530.8(MPZ):c.*752G>A
|
|
NM_000530.8(MPZ):c.*858T>C
|
rs886045473 |
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.515T>C (p.Leu172Pro)
|
rs886045475 |
NM_001005360.2(DNM2):c.*106T>C
|
rs886054144 |
NM_001005360.2(DNM2):c.*166G>A
|
rs886054145 |
NM_001005360.2(DNM2):c.*391C>T
|
rs886054147 |
NM_001005360.2(DNM2):c.*550G>A
|
rs886054148 |
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.1354T>G (p.Leu452Val)
|
rs770599060 |
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900 |
NM_001005360.2(DNM2):c.1423-9C>G
|
rs371006369 |
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140 |
NM_001005360.2(DNM2):c.162-9C>A
|
rs200736669 |
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)
|
rs372876881 |
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756 |
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.633C>T (p.Asp211=)
|
rs200191870 |
NM_001005361.3(DNM2):c.*185A>C
|
|
NM_001005361.3(DNM2):c.*214C>T
|
|
NM_001005361.3(DNM2):c.*373G>A
|
|
NM_001005361.3(DNM2):c.*379C>T
|
|
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.1372C>A (p.Arg458=)
|
|
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)
|
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980 |
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
|
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_001136473.1(LITAF):c.*1007G>A
|
rs535657236 |
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.*1489A>C
|
|
NM_001136473.1(LITAF):c.*1511G>A
|
|
NM_001136473.1(LITAF):c.*1524C>A
|
|
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.*1682C>A
|
rs886051647 |
NM_001136473.1(LITAF):c.*2004A>G
|
|
NM_001136473.1(LITAF):c.*25C>T
|
rs201512884 |
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.*625A>G
|
|
NM_001136473.1(LITAF):c.*688A>C
|
|
NM_001136473.1(LITAF):c.*723G>A
|
rs367546754 |
NM_001136473.1(LITAF):c.*848A>G
|
rs886051650 |
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+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.158G>C (p.Gly53Ala)
|
rs886051654 |
NM_001136473.1(LITAF):c.159G>A (p.Gly53=)
|
rs886051653 |
NM_001136473.1(LITAF):c.310G>A (p.Val104Met)
|
rs373445989 |
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
|
|
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr)
|
rs368574479 |
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>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.-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.*194C>G
|
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862 |
NM_001376.5(DYNC1H1):c.*70T>C
|
|
NM_001376.5(DYNC1H1):c.-90C>T
|
|
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.10896C>A (p.Pro3632=)
|
rs200903643 |
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.11460+4G>A
|
rs201518717 |
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
|
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln)
|
|
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.12102+6G>A
|
rs377669980 |
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220 |
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795 |
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.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.13350G>A (p.Thr4450=)
|
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713 |
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met)
|
|
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.13782G>A (p.Lys4594=)
|
rs147580834 |
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499 |
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566 |
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803 |
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.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.2922A>C (p.Pro974=)
|
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422 |
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His)
|
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
|
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro)
|
|
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=)
|
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996 |
NM_001376.5(DYNC1H1):c.5049+15G>A
|
|
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.5422C>A (p.Leu1808Ile)
|
rs879253937 |
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
|
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.6030G>A (p.Pro2010=)
|
rs202004938 |
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
|
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.7193G>A (p.Arg2398His)
|
rs912429154 |
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094 |
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530 |
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
|
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr)
|
|
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.8478A>G (p.Ala2826=)
|
rs117846737 |
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=)
|
rs886050370 |
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_001540.4(HSPB1):c.-122G>T
|
rs553127513 |
NM_001540.4(HSPB1):c.-129G>T
|
rs886062446 |
NM_001540.5(HSPB1):c.*116C>T
|
|
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.305A>T (p.Asn102Ile)
|
rs765142574 |
NM_001540.5(HSPB1):c.364+6C>G
|
rs753061670 |
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.*324G>A
|
rs141837805 |
NM_001605.2(AARS1):c.-108T>C
|
rs779683414 |
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.1493-7T>C
|
rs376087556 |
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.1762C>T (p.Gln588Ter)
|
rs146946034 |
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.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.2596G>A (p.Ala866Thr)
|
rs374478964 |
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.63C>T (p.Asn21=)
|
rs773045737 |
NM_001605.2(AARS1):c.806C>G (p.Ala269Gly)
|
rs769239545 |
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.*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.2113G>A (p.Glu705Lys)
|
|
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.-237A>C
|
rs540431164 |
NM_002047.4(GARS1):c.*145C>A
|
|
NM_002047.4(GARS1):c.-36C>T
|
rs531483802 |
NM_002047.4(GARS1):c.1059C>G (p.His353Gln)
|
rs886062273 |
NM_002047.4(GARS1):c.1143G>C (p.Gln381His)
|
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
|
NM_002047.4(GARS1):c.1194+3A>C
|
|
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met)
|
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144 |
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647 |
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
|
|
NM_002047.4(GARS1):c.1770A>G (p.Glu590=)
|
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730 |
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274 |
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272 |
NM_002047.4(GARS1):c.616G>A (p.Val206Ile)
|
rs1584026136 |
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520 |
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649 |
NM_003680.3(YARS1):c.*369G>A
|
rs879511403 |
NM_003680.3(YARS1):c.*399G>A
|
rs890588915 |
NM_003680.3(YARS1):c.*539A>G
|
rs550239801 |
NM_003680.3(YARS1):c.*599A>C
|
rs542816112 |
NM_003680.3(YARS1):c.*724T>C
|
rs950577466 |
NM_003680.3(YARS1):c.-110G>A
|
rs748353138 |
NM_003680.3(YARS1):c.-157G>A
|
|
NM_003680.3(YARS1):c.-167T>A
|
rs1057515514 |
NM_003680.3(YARS1):c.-260G>A
|
|
NM_003680.3(YARS1):c.-269C>T
|
rs772899682 |
NM_003680.3(YARS1):c.-333C>T
|
rs1057515442 |
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.466G>T (p.Val156Leu)
|
|
NM_003680.3(YARS1):c.511-14G>A
|
rs1057515513 |
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
|
|
NM_003680.3(YARS1):c.685-11A>G
|
rs751943571 |
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165 |
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.*165A>T
|
rs886057942 |
NM_004637.5(RAB7A):c.*181G>A
|
rs3206306 |
NM_004637.5(RAB7A):c.*183A>G
|
rs774054837 |
NM_004637.5(RAB7A):c.*473G>C
|
rs886057945 |
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.*922A>G
|
rs886057949 |
NM_004637.5(RAB7A):c.*929A>T
|
rs886057950 |
NM_004637.5(RAB7A):c.*997T>G
|
rs3755593 |
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.277C>T (p.Pro93Ser)
|
rs11549756 |
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
|
rs147480945 |
NM_004637.6(RAB7A):c.*1079C>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.*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.*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.*1195G>T
|
rs561506934 |
NM_006096.3(NDRG1):c.*1296C>T
|
rs886062711 |
NM_006096.3(NDRG1):c.*1340G>A
|
rs12668 |
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.*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.*677C>T
|
rs886062712 |
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.304G>A (p.Gly102Ser)
|
rs200433822 |
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.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.789G>A (p.Ser263=)
|
rs61755062 |
NM_006096.3(NDRG1):c.855+14_855+15del
|
rs780070007 |
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.*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.*1342A>G
|
rs886062830 |
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.*51A>G
|
rs538082598 |
NM_006158.4(NEFL):c.*577T>C
|
rs886062832 |
NM_006158.4(NEFL):c.*856T>C
|
rs886062831 |
NM_006158.4(NEFL):c.-68T>A
|
rs886062836 |
NM_006158.4(NEFL):c.141G>A (p.Val47=)
|
rs886062835 |
NM_006158.4(NEFL):c.45G>A (p.Lys15=)
|
rs62636518 |
NM_006158.5(NEFL):c.*1101G>A
|
|
NM_006158.5(NEFL):c.*1153T>G
|
|
NM_006158.5(NEFL):c.*1383C>T
|
|
NM_006158.5(NEFL):c.*1464A>G
|
|
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
|
|
NM_006158.5(NEFL):c.516C>T (p.Arg172=)
|
|
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)
|
|
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.*363C>T
|
rs536827304 |
NM_006329.3(FBLN5):c.*419G>C
|
|
NM_006329.3(FBLN5):c.*426C>T
|
|
NM_006329.3(FBLN5):c.*458T>C
|
rs886050887 |
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.-382C>G
|
rs886050890 |
NM_006329.3(FBLN5):c.-389C>A
|
rs886050891 |
NM_006329.3(FBLN5):c.-413C>T
|
rs886050892 |
NM_006329.3(FBLN5):c.-428G>C
|
rs886050893 |
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.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.388G>A (p.Glu130Lys)
|
rs886050888 |
NM_006329.3(FBLN5):c.573A>G (p.Thr191=)
|
|
NM_006329.3(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805 |
NM_006329.3(FBLN5):c.726C>G (p.Gly242=)
|
|
NM_006329.3(FBLN5):c.862+12C>T
|
rs202088447 |
NM_006329.3(FBLN5):c.901C>A (p.Leu301Met)
|
|
NM_006329.3(FBLN5):c.989+9C>T
|
rs557362799 |
NM_014365.2(HSPB8):c.*504T>C
|
rs886049027 |
NM_014365.2(HSPB8):c.*648A>G
|
rs770364674 |
NM_014365.2(HSPB8):c.*67T>G
|
rs886049026 |
NM_014365.2(HSPB8):c.*803T>C
|
rs886049029 |
NM_014365.2(HSPB8):c.-172G>C
|
rs886049025 |
NM_014365.2(HSPB8):c.-201G>T
|
rs764259720 |
NM_014365.2(HSPB8):c.-314T>C
|
rs754447057 |
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.432-10T>A
|
rs368810689 |
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.*150_*151del
|
rs886060986 |
NM_014845.5(FIG4):c.-112G>A
|
rs757848529 |
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.-84A>G
|
rs764845399 |
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys)
|
rs368625871 |
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.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.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.2567C>T (p.Ser856Leu)
|
rs200970494 |
NM_014845.5(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056 |
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.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_014874.3(MFN2):c.*1068C>T
|
rs886045229 |
NM_014874.3(MFN2):c.*1153C>T
|
rs542684406 |
NM_014874.3(MFN2):c.*121A>G
|
rs886045222 |
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.*1539G>A
|
rs557643473 |
NM_014874.3(MFN2):c.*1640del
|
rs35943162 |
NM_014874.3(MFN2):c.*1640dup
|
rs35943162 |
NM_014874.3(MFN2):c.*1794_*1796del
|
rs540280019 |
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.*610del
|
rs747291228 |
NM_014874.3(MFN2):c.*864T>C
|
rs886045226 |
NM_014874.3(MFN2):c.*870C>T
|
rs886045227 |
NM_014874.3(MFN2):c.*935G>T
|
rs886045228 |
NM_014874.3(MFN2):c.*946C>A
|
rs765105334 |
NM_014874.3(MFN2):c.-217C>A
|
rs886045218 |
NM_014874.3(MFN2):c.-328T>A
|
rs886045217 |
NM_014874.3(MFN2):c.-344C>T
|
rs886045216 |
NM_014874.3(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616 |
NM_014874.3(MFN2):c.153G>T (p.Gln51His)
|
rs886045219 |
NM_014874.3(MFN2):c.1659G>A (p.Val553=)
|
rs886045220 |
NM_014874.3(MFN2):c.1827C>T (p.Ser609=)
|
rs138724074 |
NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154 |
NM_014874.3(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213 |
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.898C>T (p.Arg300Cys)
|
rs863224066 |
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.*1902C>T
|
|
NM_014874.4(MFN2):c.*381C>A
|
|
NM_014874.4(MFN2):c.*813G>A
|
|
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.2211A>G (p.Lys737=)
|
|
NM_014874.4(MFN2):c.271G>A (p.Val91Met)
|
|
NM_016156.5(MTMR2):c.*1100_*1103dup
|
rs886048767 |
NM_016156.5(MTMR2):c.*1150C>T
|
rs886048766 |
NM_016156.5(MTMR2):c.*133C>G
|
rs367677499 |
NM_016156.5(MTMR2):c.*1343_*1344del
|
rs886048765 |
NM_016156.5(MTMR2):c.*1425A>G
|
rs886048764 |
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.*2038C>G
|
rs886048763 |
NM_016156.5(MTMR2):c.*207A>G
|
rs185702937 |
NM_016156.5(MTMR2):c.*2357T>C
|
rs886048762 |
NM_016156.5(MTMR2):c.*660G>A
|
rs886048768 |
NM_016156.5(MTMR2):c.*679A>C
|
rs776788118 |
NM_016156.5(MTMR2):c.*910T>A
|
rs555290971 |
NM_016156.5(MTMR2):c.-222G>C
|
rs746848952 |
NM_016156.5(MTMR2):c.-82C>T
|
rs886048773 |
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.1551C>T (p.Phe517=)
|
rs775961979 |
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.212C>T (p.Ala71Val)
|
rs886048772 |
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_016156.6(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.*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.*1165C>G
|
|
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.*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.*1779G>T
|
rs886063115 |
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.*2298A>C
|
|
NM_018972.4(GDAP1):c.*2298A>G
|
rs4551344 |
NM_018972.4(GDAP1):c.*331C>T
|
|
NM_018972.4(GDAP1):c.*444A>G
|
rs113377784 |
NM_018972.4(GDAP1):c.*451C>T
|
|
NM_018972.4(GDAP1):c.*618C>T
|
rs886063106 |
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.*751A>G
|
rs544136357 |
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.*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.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.*1292C>G
|
rs886054439 |
NM_020956.2(PRX):c.*1420C>T
|
rs377184301 |
NM_020956.2(PRX):c.*1421G>A
|
rs117336941 |
NM_020956.2(PRX):c.*1574G>A
|
rs142064826 |
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.*1856G>A
|
rs61733448 |
NM_020956.2(PRX):c.*2033G>A
|
rs537664679 |
NM_020956.2(PRX):c.*2096C>G
|
rs886054438 |
NM_020956.2(PRX):c.*2276A>C
|
rs886054437 |
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.*2741C>T
|
rs765595266 |
NM_020956.2(PRX):c.*2753C>G
|
rs141686828 |
NM_020956.2(PRX):c.*2825G>A
|
rs145790961 |
NM_020956.2(PRX):c.*2895G>A
|
rs752531623 |
NM_020956.2(PRX):c.*2933G>A
|
rs145203783 |
NM_020956.2(PRX):c.*2951G>C
|
rs775152960 |
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.*3425G>A
|
rs886054436 |
NM_020956.2(PRX):c.*3476G>A
|
rs368459753 |
NM_020956.2(PRX):c.*3578G>A
|
rs148939995 |
NM_020956.2(PRX):c.*3701C>T
|
rs147826200 |
NM_020956.2(PRX):c.*3754C>T
|
rs367876251 |
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.*4054A>G
|
rs757247849 |
NM_020956.2(PRX):c.*4073G>A
|
rs773955274 |
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.*4743A>G
|
rs886054435 |
NM_020956.2(PRX):c.*705G>C
|
rs757322355 |
NM_020956.2(PRX):c.*744C>T
|
rs540526276 |
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.-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.237C>T (p.Asp79=)
|
rs376174896 |
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.*405G>A
|
rs886048937 |
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.1211G>A (p.Arg404His)
|
rs377257364 |
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.1465G>A (p.Ala489Thr)
|
rs758280554 |
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.1700A>T (p.Tyr567Phe)
|
rs763889344 |
NM_021625.4(TRPV4):c.171T>C (p.Pro57=)
|
rs886048941 |
NM_021625.4(TRPV4):c.1796C>G (p.Thr599Arg)
|
rs769225216 |
NM_021625.4(TRPV4):c.1825-15C>G
|
rs200602134 |
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.2320C>T (p.Arg774Cys)
|
rs145102919 |
NM_021625.4(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086 |
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.37G>T (p.Gly13Trp)
|
rs763302555 |
NM_021625.4(TRPV4):c.427C>A (p.Pro143Thr)
|
rs201642486 |
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351 |
NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn)
|
rs769445973 |
NM_021625.4(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831 |
NM_021625.4(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854 |
NM_021625.5(TRPV4):c.*145C>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+337C>T
|
|
NM_022753.4(S100PBP):c.-124C>G
|
|
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.*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.*10132A>G
|
rs886060138 |
NM_024577.3(SH3TC2):c.*10177T>A
|
rs149759395 |
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.*10863C>T
|
rs181346624 |
NM_024577.3(SH3TC2):c.*10864G>A
|
rs189701174 |
NM_024577.3(SH3TC2):c.*10984G>T
|
rs868782614 |
NM_024577.3(SH3TC2):c.*11054G>C
|
rs886060134 |
NM_024577.3(SH3TC2):c.*11055T>C
|
rs886060133 |
NM_024577.3(SH3TC2):c.*11160C>T
|
rs886060132 |
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.*12088_*12091del
|
rs886060127 |
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.*12469T>A
|
rs886060122 |
NM_024577.3(SH3TC2):c.*1254T>C
|
rs752672326 |
NM_024577.3(SH3TC2):c.*12653C>A
|
rs886060121 |
NM_024577.3(SH3TC2):c.*12752T>A
|
rs886060120 |
NM_024577.3(SH3TC2):c.*1310G>A
|
rs886060184 |
NM_024577.3(SH3TC2):c.*13293T>C
|
rs886060119 |
NM_024577.3(SH3TC2):c.*13465C>A
|
rs186009343 |
NM_024577.3(SH3TC2):c.*13598A>G
|
rs141011337 |
NM_024577.3(SH3TC2):c.*13923T>C
|
rs534282709 |
NM_024577.3(SH3TC2):c.*14429T>G
|
rs577465518 |
NM_024577.3(SH3TC2):c.*14628C>T
|
rs886060118 |
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.*14985A>G
|
rs886060116 |
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.*15680T>C
|
rs886060112 |
NM_024577.3(SH3TC2):c.*15823T>A
|
rs4562031 |
NM_024577.3(SH3TC2):c.*15824G>A
|
rs530880070 |
NM_024577.3(SH3TC2):c.*16056C>T
|
rs147906062 |
NM_024577.3(SH3TC2):c.*16257T>C
|
rs572081330 |
NM_024577.3(SH3TC2):c.*16261C>T
|
rs150690882 |
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.*16711C>G
|
rs886060109 |
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.*17036C>T
|
rs75086059 |
NM_024577.3(SH3TC2):c.*17192C>T
|
rs886060104 |
NM_024577.3(SH3TC2):c.*17662T>C
|
rs556308084 |
NM_024577.3(SH3TC2):c.*17833T>G
|
rs886060103 |
NM_024577.3(SH3TC2):c.*18234G>A
|
rs886060102 |
NM_024577.3(SH3TC2):c.*18483dup
|
rs536826583 |
NM_024577.3(SH3TC2):c.*18635C>T
|
rs886060101 |
NM_024577.3(SH3TC2):c.*19182A>C
|
rs886060100 |
NM_024577.3(SH3TC2):c.*19250T>A
|
rs886060099 |
NM_024577.3(SH3TC2):c.*19342A>G
|
rs886060098 |
NM_024577.3(SH3TC2):c.*19406A>G
|
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.*19563_*19564dup
|
rs5872105 |
NM_024577.3(SH3TC2):c.*1979C>T
|
rs886060181 |
NM_024577.3(SH3TC2):c.*1982C>A
|
rs535127091 |
NM_024577.3(SH3TC2):c.*19989G>A
|
rs560779315 |
NM_024577.3(SH3TC2):c.*20362T>C
|
rs571268825 |
NM_024577.3(SH3TC2):c.*20412A>T
|
rs774453230 |
NM_024577.3(SH3TC2):c.*20469C>T
|
rs886060097 |
NM_024577.3(SH3TC2):c.*20773G>T
|
rs113020040 |
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.*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.*21955A>G
|
rs575501943 |
NM_024577.3(SH3TC2):c.*22034C>T
|
rs886060093 |
NM_024577.3(SH3TC2):c.*22168C>G
|
rs886060092 |
NM_024577.3(SH3TC2):c.*22199C>T
|
rs778637809 |
NM_024577.3(SH3TC2):c.*22291T>C
|
rs886060091 |
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.*2361A>T
|
rs146327509 |
NM_024577.3(SH3TC2):c.*2394C>T
|
rs368101139 |
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.*2982T>C
|
rs886060180 |
NM_024577.3(SH3TC2):c.*3058A>G
|
rs563916447 |
NM_024577.3(SH3TC2):c.*3165G>A
|
rs886060179 |
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.*3903A>G
|
rs750071171 |
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.*4409T>A
|
rs886060173 |
NM_024577.3(SH3TC2):c.*4511T>C
|
rs578024597 |
NM_024577.3(SH3TC2):c.*4604G>A
|
rs886060172 |
NM_024577.3(SH3TC2):c.*4691C>T
|
rs574710725 |
NM_024577.3(SH3TC2):c.*4920T>G
|
rs550230926 |
NM_024577.3(SH3TC2):c.*4935A>T
|
rs149921013 |
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.*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.*5933G>A
|
rs886060165 |
NM_024577.3(SH3TC2):c.*6104C>T
|
rs556527140 |
NM_024577.3(SH3TC2):c.*623T>C
|
rs886060190 |
NM_024577.3(SH3TC2):c.*626G>A
|
rs781581124 |
NM_024577.3(SH3TC2):c.*6392C>A
|
rs114817736 |
NM_024577.3(SH3TC2):c.*6557T>C
|
rs199797914 |
NM_024577.3(SH3TC2):c.*6563_*6564del
|
rs368030230 |
NM_024577.3(SH3TC2):c.*6682G>C
|
rs557452648 |
NM_024577.3(SH3TC2):c.*6836T>C
|
rs757138006 |
NM_024577.3(SH3TC2):c.*6873_*6875delACA
|
rs567997802 |
NM_024577.3(SH3TC2):c.*7006T>C
|
rs187720692 |
NM_024577.3(SH3TC2):c.*7021_*7025delATATT
|
rs886060164 |
NM_024577.3(SH3TC2):c.*7189C>G
|
rs886060163 |
NM_024577.3(SH3TC2):c.*7197G>C
|
rs886060162 |
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.*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.*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.*8283A>T
|
rs780934660 |
NM_024577.3(SH3TC2):c.*8313G>A
|
rs770951592 |
NM_024577.3(SH3TC2):c.*8364C>T
|
rs886060154 |
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.*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.*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.*932T>A
|
rs886060186 |
NM_024577.3(SH3TC2):c.*9340G>C
|
rs886060147 |
NM_024577.3(SH3TC2):c.*9357T>G
|
rs147996031 |
NM_024577.3(SH3TC2):c.*9503C>T
|
rs533786708 |
NM_024577.3(SH3TC2):c.*9830C>T
|
rs557247993 |
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.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.1431G>A (p.Glu477=)
|
rs887057321 |
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.1889C>T (p.Pro630Leu)
|
rs749260578 |
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394 |
NM_024577.3(SH3TC2):c.2094C>T (p.Ile698=)
|
rs886060196 |
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.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.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.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.3303G>A (p.Arg1101=)
|
rs755006924 |
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910 |
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.3550A>G (p.Met1184Val)
|
rs142451273 |
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.390C>T (p.Tyr130=)
|
rs776623792 |
NM_024577.3(SH3TC2):c.529+7G>A
|
rs747615694 |
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935 |
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.*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.*11589C>T
|
|
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.*12256G>T
|
|
NM_024577.4(SH3TC2):c.*12356A>T
|
|
NM_024577.4(SH3TC2):c.*12442A>G
|
|
NM_024577.4(SH3TC2):c.*12710G>A
|
|
NM_024577.4(SH3TC2):c.*13037G>A
|
|
NM_024577.4(SH3TC2):c.*13292G>T
|
|
NM_024577.4(SH3TC2):c.*13418G>T
|
|
NM_024577.4(SH3TC2):c.*14182A>G
|
|
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.*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.*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.*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.*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.*20135C>T
|
|
NM_024577.4(SH3TC2):c.*20230G>T
|
|
NM_024577.4(SH3TC2):c.*20400A>C
|
|
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.*22505G>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.*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.*44G>A
|
|
NM_024577.4(SH3TC2):c.*4576G>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.*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.*6382T>C
|
|
NM_024577.4(SH3TC2):c.*651C>A
|
|
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.*7254A>T
|
|
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.*8038A>G
|
|
NM_024577.4(SH3TC2):c.*8261G>A
|
|
NM_024577.4(SH3TC2):c.*8349T>C
|
|
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.*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.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.*1255G>A
|
rs886048774 |
NM_030962.3(SBF2):c.*1315A>C
|
|
NM_030962.3(SBF2):c.*1405T>C
|
|
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.*154C>T
|
|
NM_030962.3(SBF2):c.*1686G>A
|
rs376521838 |
NM_030962.3(SBF2):c.*19G>A
|
rs770446132 |
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.*418T>C
|
|
NM_030962.3(SBF2):c.*447A>T
|
|
NM_030962.3(SBF2):c.*480G>A
|
rs148002177 |
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.-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.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.2100+7G>A
|
rs370918433 |
NM_030962.3(SBF2):c.2197C>G (p.Gln733Glu)
|
rs145199888 |
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.2669G>A (p.Arg890Gln)
|
rs755699993 |
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.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.3582C>T (p.Leu1194=)
|
rs201514622 |
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.409C>G (p.Leu137Val)
|
|
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402 |
NM_030962.3(SBF2):c.440G>A (p.Ser147Asn)
|
|
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330 |
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271 |
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.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.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.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.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.*588T>A
|
rs886063461 |
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.-78C>T
|
rs886063454 |
NM_138361.5(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971 |
NM_138361.5(LRSAM1):c.1073C>T (p.Ser358Leu)
|
rs886063457 |
NM_138361.5(LRSAM1):c.1159+13A>T
|
|
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln)
|
rs150344223 |
NM_138361.5(LRSAM1):c.1347+6C>T
|
rs1588128875 |
NM_138361.5(LRSAM1):c.1422+15T>A
|
|
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362 |
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp)
|
rs757208185 |
NM_138361.5(LRSAM1):c.1699-3C>T
|
|
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911 |
NM_138361.5(LRSAM1):c.1834G>A (p.Gly612Ser)
|
|
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys)
|
rs150984897 |
NM_138361.5(LRSAM1):c.2115C>T (p.Thr705=)
|
|
NM_138361.5(LRSAM1):c.2134G>A (p.Asp712Asn)
|
|
NM_138361.5(LRSAM1):c.390G>C (p.Gln130His)
|
|
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=)
|
rs1564255509 |
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.620-3C>T
|
rs373015900 |
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr)
|
rs765389102 |
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533 |
NM_138361.5(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400 |
NM_139241.3(FGD4):c.*1006C>T
|
rs886049260 |
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.*1485T>C
|
rs55970127 |
NM_139241.3(FGD4):c.*1530T>C
|
|
NM_139241.3(FGD4):c.*1704C>G
|
rs886049263 |
NM_139241.3(FGD4):c.*1781G>A
|
rs886049264 |
NM_139241.3(FGD4):c.*1866T>G
|
rs886049265 |
NM_139241.3(FGD4):c.*1908G>C
|
rs886049266 |
NM_139241.3(FGD4):c.*2026A>G
|
rs765502938 |
NM_139241.3(FGD4):c.*2096T>A
|
|
NM_139241.3(FGD4):c.*2192G>A
|
|
NM_139241.3(FGD4):c.*2264G>A
|
|
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.*2648G>A
|
|
NM_139241.3(FGD4):c.*2813C>T
|
rs148195158 |
NM_139241.3(FGD4):c.*2859G>A
|
|
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.*3150A>G
|
rs542871416 |
NM_139241.3(FGD4):c.*3195T>G
|
|
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.*368T>C
|
|
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.*3937A>G
|
|
NM_139241.3(FGD4):c.*3940G>A
|
|
NM_139241.3(FGD4):c.*3994A>G
|
|
NM_139241.3(FGD4):c.*4118G>A
|
|
NM_139241.3(FGD4):c.*411A>G
|
rs886049256 |
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.*4446A>G
|
|
NM_139241.3(FGD4):c.*4756A>G
|
rs763037960 |
NM_139241.3(FGD4):c.*4772dup
|
rs567814235 |
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.*4977G>C
|
rs575914495 |
NM_139241.3(FGD4):c.*497T>C
|
rs886049257 |
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.*5223G>A
|
rs886049280 |
NM_139241.3(FGD4):c.*5243C>T
|
|
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.*795G>A
|
rs112398567 |
NM_139241.3(FGD4):c.-246+9C>T
|
rs531501340 |
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.-447T>C
|
rs886049252 |
NM_139241.3(FGD4):c.-448C>G
|
|
NM_139241.3(FGD4):c.-455C>A
|
|
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.1366C>A (p.Pro456Thr)
|
rs138160928 |
NM_139241.3(FGD4):c.1569T>C (p.Phe523=)
|
|
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.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.852A>G (p.Arg284=)
|
rs773609461 |
NM_139241.3(FGD4):c.894G>T (p.Met298Ile)
|
|
NM_139241.3(FGD4):c.993+4A>T
|
rs767855809 |
NM_139241.3(FGD4):c.994-4A>G
|
rs886049254 |
NM_170707.4(LMNA):c.-138T>C
|
rs886045359 |
NM_170707.4(LMNA):c.-44T>A
|
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223 |
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.1517A>C (p.His506Pro)
|
rs878855233 |
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.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.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.749C>T (p.Ala250Val)
|
rs397517907 |
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
|
|
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.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=)
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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)
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rs577197549 |
NM_201278.3(MTMR2):c.*345_*346CT[1]
|
rs762396029 |