ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1532
Download table as spreadsheet
HGVS dbSNP
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=)
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

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