ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1169
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.30594642G>A
NC_000007.14:g.76302657C>T
NC_000008.11:g.24956698G>C
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*200T>G
NM_000304.4(PMP22):c.*376C>T
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*890C>T
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.-86A>C
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.179-17G>A
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000371.3(TTR):c.*3_*11del rs143948820
NM_000371.3(TTR):c.337-18G>C rs36204272
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458
NM_000399.5(EGR2):c.*287T>A rs61865883
NM_000399.5(EGR2):c.*288G>A rs117395928
NM_000399.5(EGR2):c.*429G>A rs114237833
NM_000399.5(EGR2):c.*874A>G rs61865882
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.169+10G>T rs114201658
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*360C>G
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001005360.2(DNM2):c.*10G>A rs200188660
NM_001005360.2(DNM2):c.*14C>T rs369529119
NM_001005360.2(DNM2):c.*22C>T rs531170486
NM_001005360.2(DNM2):c.*268A>T rs12461992
NM_001005360.2(DNM2):c.*35C>G rs199700849
NM_001005360.2(DNM2):c.*385C>T rs78160240
NM_001005360.2(DNM2):c.*386G>C rs74952080
NM_001005360.2(DNM2):c.*453C>T rs200104482
NM_001005360.2(DNM2):c.*47G>A rs367938944
NM_001005360.2(DNM2):c.*601C>T rs185820576
NM_001005360.2(DNM2):c.*607G>A rs117954916
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val) rs186762327
NM_001005360.2(DNM2):c.1335+13C>T rs150975494
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1423-12G>A rs376753915
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1782-11C>T rs78580529
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.2059-5C>T rs377150057
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) rs114682382
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) rs200100669
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) rs149825590
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.450A>G (p.Pro150=) rs766121627
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln) rs200002469
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.666C>T (p.Asn222=) rs2229921
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.789G>A (p.Pro263=) rs199976453
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005361.3(DNM2):c.*321A>G
NM_001005361.3(DNM2):c.*671T>C
NM_001005361.3(DNM2):c.1196+710G>A
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
NM_001005361.3(DNM2):c.1558-7C>A rs184310103
NM_001005361.3(DNM2):c.1671+14G>A
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.386-6T>C rs114623441
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.*1029G>A rs192766322
NM_001136473.1(LITAF):c.*1058C>T rs75472256
NM_001136473.1(LITAF):c.*1376A>G rs7102
NM_001136473.1(LITAF):c.*1540C>A rs80119580
NM_001136473.1(LITAF):c.*1618T>G rs77423500
NM_001136473.1(LITAF):c.*1752G>A rs62022848
NM_001136473.1(LITAF):c.*1757C>G
NM_001136473.1(LITAF):c.*224C>T rs149712652
NM_001136473.1(LITAF):c.*268C>T rs1801977
NM_001136473.1(LITAF):c.*546C>T rs13336723
NM_001136473.1(LITAF):c.*564G>A rs13337025
NM_001136473.1(LITAF):c.*578C>A rs192516633
NM_001136473.1(LITAF):c.*836G>T rs117082330
NM_001136473.1(LITAF):c.*921T>C rs1198
NM_001136473.1(LITAF):c.*941T>A rs7187810
NM_001136473.1(LITAF):c.-6+558C>T rs528624227
NM_001136473.1(LITAF):c.-6+594A>G rs12921437
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001142386.3(PDK3):c.1077+8G>A rs370736936
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001282625.2(LMNA):c.-206-17C>T
NM_001303256.3(MORC2):c.1499-9T>C rs201213165
NM_001303256.3(MORC2):c.1737+4C>T rs5997814
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=) rs140142437
NM_001303256.3(MORC2):c.2649C>T (p.Val883=) rs189421529
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=) rs142766430
NM_001303256.3(MORC2):c.3030+9G>C rs200086094
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) rs186458188
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742
NM_001303256.3(MORC2):c.894A>G (p.Val298=) rs562612569
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001316772.1(GARS1):c.-231T>A rs527307703
NM_001316772.1(GARS1):c.-339T>C rs78980639
NM_001365951.3(KIF1B):c.1222+16_1222+17del
NM_001365951.3(KIF1B):c.1223-28C>T
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037
NM_001365951.3(KIF1B):c.1983T>A (p.Phe661Leu)
NM_001365951.3(KIF1B):c.2043-9del
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_001365951.3(KIF1B):c.4753-20C>A
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552
NM_001370298.1(FGD4):c.123C>G (p.Ile41Met) rs2651369
NM_001376.5(DYNC1H1):c.*190A>G rs13901
NM_001376.5(DYNC1H1):c.*232C>T rs17512996
NM_001376.5(DYNC1H1):c.-53G>A rs2273436
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12684+14A>G rs200392758
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877
NM_001376.5(DYNC1H1):c.12902+46G>A rs2273440
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.257-20A>G rs201905359
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.3015+18C>T rs2749894
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3960+16G>A
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821
NM_001376.5(DYNC1H1):c.4185+20C>T rs74948967
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359
NM_001376.5(DYNC1H1):c.5433+17dup rs140185574
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6904G>A (p.Val2302Ile) rs561339487
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510
NM_001376.5(DYNC1H1):c.885G>A (p.Pro295=) rs34287672
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001376.5(DYNC1H1):c.9469-20A>T rs2720210
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001540.4(HSPB1):c.-46C>T rs35907174
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.235C>T (p.Arg79Trp)
NM_001540.5(HSPB1):c.365-7C>T
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001605.2(AARS1):c.*251A>C rs116553521
NM_001605.2(AARS1):c.*74A>T rs11537663
NM_001605.2(AARS1):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS1):c.1332G>A (p.Glu444=) rs150442667
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=) rs117598688
NM_001605.2(AARS1):c.1428G>C (p.Arg476=) rs80257731
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile) rs771059047
NM_001605.2(AARS1):c.1672-4T>A rs187509039
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2608-6C>A rs200965527
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.561C>T (p.Cys187=) rs78523270
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys) rs151091410
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser) rs141840552
NM_001605.2(AARS1):c.741G>A (p.Leu247=) rs148075561
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr) rs576221121
NM_001605.3(AARS1):c.*141A>G
NM_002047.3(GARS):c.-205C>T rs17159262
NM_002047.3(GARS):c.-217A>G rs2970504
NM_002047.3(GARS):c.-225G>A rs148593022
NM_002047.3(GARS):c.-317G>A rs116125961
NM_002047.4(GARS1):c.*67C>G rs142498676
NM_002047.4(GARS1):c.*73A>G rs113598818
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_002180.2(IGHMBP2):c.*3G>A rs372949830
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1418+18A>G rs112575423
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1538-20C>T rs147148090
NM_002180.2(IGHMBP2):c.1538-8C>G rs115320302
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) rs546382
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.3(IGHMBP2):c.-2C>T rs4930624
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=) rs201485072
NM_002180.3(IGHMBP2):c.1235+511T>C
NM_002180.3(IGHMBP2):c.1235+519C>T
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.3(IGHMBP2):c.36G>T (p.Lys12Asn)
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232
NM_002972.4(SBF1):c.4813-18C>T rs41281541
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003680.3(YARS1):c.*138G>A rs41265857
NM_003680.3(YARS1):c.*21C>A rs149812692
NM_003680.3(YARS1):c.*284A>G rs150690731
NM_003680.3(YARS1):c.*293A>G rs16866009
NM_003680.3(YARS1):c.*386G>T rs144131403
NM_003680.3(YARS1):c.*439T>C rs184249741
NM_003680.3(YARS1):c.*680A>G rs536402126
NM_003680.3(YARS1):c.*681T>G rs78319035
NM_003680.3(YARS1):c.-129C>A
NM_003680.3(YARS1):c.-188G>T
NM_003680.3(YARS1):c.-245T>C
NM_003680.3(YARS1):c.-283G>A rs113748028
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.415G>A (p.Val139Met) rs772729857
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.57+14G>T rs72654020
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851
NM_004208.4(AIFM1):c.606-15C>T rs191297808
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545
NM_004637.5(RAB7A):c.*1374G>A rs539522952
NM_004637.5(RAB7A):c.*163T>G rs182521602
NM_004637.5(RAB7A):c.*189A>G rs11549750
NM_004637.5(RAB7A):c.*206G>A rs16851333
NM_004637.5(RAB7A):c.*625T>C rs545004919
NM_004637.5(RAB7A):c.*863C>G rs59753334
NM_004637.5(RAB7A):c.*997T>C rs3755593
NM_004637.5(RAB7A):c.-115C>T rs374777610
NM_004637.5(RAB7A):c.-215C>T rs560785742
NM_004637.5(RAB7A):c.-29G>T rs112000804
NM_004637.5(RAB7A):c.-97C>G rs141622970
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.495G>A (p.Ala165=) rs146566121
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.*229C>T
NM_004637.6(RAB7A):c.*846A>G
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1360C>T (p.Leu454=) rs139002397
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2204+11G>A rs202080192
NM_004990.4(MARS1):c.2209C>A (p.Arg737=) rs139536122
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.280-14C>T rs183195960
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.626G>A (p.Ser209Asn) rs141671963
NM_004990.4(MARS1):c.801C>T (p.Leu267=) rs151260441
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_005340.7(HINT1):c.111+5_111+6insC rs1580686330
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005391.5(PDK3):c.249-9del
NM_005548.2(KARS1):c.223-6del rs370077957
NM_005548.2(KARS1):c.223-7_223-6del rs370077957
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449
NM_006070.6(TFG):c.415+7C>G rs149927288
NM_006070.6(TFG):c.416-9T>C rs115896544
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729
NM_006070.6(TFG):c.722-8G>T rs41272979
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338
NM_006096.3(NDRG1):c.*100G>A rs2233348
NM_006096.3(NDRG1):c.*1135G>A rs10675
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*69C>T rs114738844
NM_006096.3(NDRG1):c.*711C>T rs16904866
NM_006096.3(NDRG1):c.*834T>A rs79281324
NM_006096.3(NDRG1):c.*866A>T rs16904865
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.-120C>T rs11575971
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.4(NDRG1):c.855+8G>A rs776826543
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1275C>T (p.Gly425=) rs114329068
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=)
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.507G>A (p.Glu169=)
NM_006329.3(FBLN5):c.*326G>A rs79375113
NM_006329.3(FBLN5):c.*329T>C rs115237925
NM_006329.3(FBLN5):c.*514A>G rs17804735
NM_006329.3(FBLN5):c.*623A>T rs77357345
NM_006329.3(FBLN5):c.-152C>T rs139387007
NM_006329.3(FBLN5):c.-414C>T rs7149187
NM_006329.3(FBLN5):c.-458G>A rs369441736
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) rs145515678
NM_006329.3(FBLN5):c.502+15G>C rs190933127
NM_006329.3(FBLN5):c.863-13C>T rs74071606
NM_006329.3(FBLN5):c.945T>C (p.Ile315=) rs2430347
NM_006329.3(FBLN5):c.989+13G>A rs74071605
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.560+16G>C rs73512337
NM_006415.4(SPTLC1):c.781-6A>G rs138268337
NM_006736.6(DNAJB2):c.230-10G>A rs3731897
NM_006736.6(DNAJB2):c.446-8G>A rs3821039
NM_006736.6(DNAJB2):c.66-14C>T rs2276638
NM_014365.2(HSPB8):c.*440C>G rs13378054
NM_014365.2(HSPB8):c.*581G>A rs56754798
NM_014365.2(HSPB8):c.*616C>G rs6413487
NM_014365.2(HSPB8):c.*616C>T rs6413487
NM_014365.2(HSPB8):c.*644A>G rs11038
NM_014365.2(HSPB8):c.*684G>A rs1133026
NM_014365.2(HSPB8):c.-193T>C rs11549401
NM_014365.2(HSPB8):c.-457A>G rs564088535
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542
NM_014629.4(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=) rs34655804
NM_014629.4(ARHGEF10):c.1260+4C>T rs79548709
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) rs4875950
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr) rs34319003
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.2143+13T>G rs2294041
NM_014629.4(ARHGEF10):c.3398-16A>G rs7832438
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) rs749822
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=) rs147914724
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) rs7003969
NM_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.447-16G>T rs200890189
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014845.5(FIG4):c.647-18C>A rs2273752
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.6(FIG4):c.2377-19T>C
NM_014845.6(FIG4):c.2377-20_2377-19insC
NM_014845.6(FIG4):c.446+32dup
NM_014845.6(FIG4):c.447-17dup
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.447-4_447-3dup
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1039-19G>A rs74052923
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.176-7C>T rs374055101
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.522T>C (p.His174=) rs762789747
NM_014874.3(MFN2):c.744C>T (p.Leu248=) rs61733205
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.970+19G>A rs75865135
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_014874.4(MFN2):c.*1034C>T
NM_014874.4(MFN2):c.*1830C>T
NM_014874.4(MFN2):c.*226C>T
NM_014874.4(MFN2):c.*26G>A
NM_014874.4(MFN2):c.*304A>G
NM_014874.4(MFN2):c.-80C>T
NM_015074.3(KIF1B):c.1162+18C>T rs41274456
NM_015074.3(KIF1B):c.1227G>A (p.Thr409=) rs17034660
NM_015074.3(KIF1B):c.184-6_184-5del rs138324955
NM_015074.3(KIF1B):c.186C>T (p.Pro62=) rs141998703
NM_015074.3(KIF1B):c.2192A>G (p.Asn731Ser) rs117525287
NM_015074.3(KIF1B):c.2832C>A (p.Ile944=) rs78611156
NM_015074.3(KIF1B):c.3260A>G (p.Tyr1087Cys) rs2297881
NM_015074.3(KIF1B):c.3285-15A>T rs200470260
NM_015074.3(KIF1B):c.3285-15del rs3215996
NM_015074.3(KIF1B):c.3507G>A (p.Pro1169=) rs147318592
NM_015074.3(KIF1B):c.363+6A>C rs114084418
NM_015074.3(KIF1B):c.3917+6A>G rs76519832
NM_015074.3(KIF1B):c.3948T>C (p.Asp1316=) rs116089798
NM_015074.3(KIF1B):c.4020G>A (p.Ser1340=) rs116302604
NM_015074.3(KIF1B):c.4161A>G (p.Pro1387=) rs12125492
NM_015074.3(KIF1B):c.4458C>T (p.Pro1486=) rs147066476
NM_015074.3(KIF1B):c.4660G>A (p.Val1554Met) rs77172218
NM_015074.3(KIF1B):c.4808+9C>T rs72867431
NM_015074.3(KIF1B):c.5112A>G (p.Ala1704=) rs75413741
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015074.3(KIF1B):c.608+8dup rs139613776
NM_015074.3(KIF1B):c.720+17C>T rs1339458
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=) rs115515921
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) rs116558260
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1226_*1228del rs142663762
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.130G>A (p.Val44Ile) rs146004831
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1770+7_1770+12del rs754608173
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.6(MTMR2):c.186+19A>T
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) rs370701984
NM_018972.4(GDAP1):c.*1173G>T rs72665430
NM_018972.4(GDAP1):c.*1429A>G rs78545774
NM_018972.4(GDAP1):c.*1647C>T rs115466662
NM_018972.4(GDAP1):c.*1855A>G rs6472842
NM_018972.4(GDAP1):c.*1878G>T rs16938896
NM_018972.4(GDAP1):c.*2214A>G rs10504580
NM_018972.4(GDAP1):c.*2244T>C
NM_018972.4(GDAP1):c.*2463A>G rs9643686
NM_018972.4(GDAP1):c.*357A>G rs1135715
NM_018972.4(GDAP1):c.*561C>G rs80136809
NM_018972.4(GDAP1):c.*61C>T
NM_018972.4(GDAP1):c.*797A>G rs7007283
NM_018972.4(GDAP1):c.*830C>G rs4737414
NM_018972.4(GDAP1):c.*920C>G
NM_018972.4(GDAP1):c.102= (p.Ser34=)
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201
NM_018972.4(GDAP1):c.117+28G>A rs4321999
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.485-20C>G rs73345392
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.579+417A>G
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.440-6A>G rs202049535
NM_020631.5(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.771C>G (p.Gly257=) rs200400689
NM_020631.5(PLEKHG5):c.795+8G>A rs114275646
NM_020631.5(PLEKHG5):c.87G>A (p.Pro29=) rs140892576
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_020956.2(PRX):c.*1097C>T rs185112635
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*4007G>C rs146061247
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4057C>T rs567324732
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4264_*4266GGA[5] rs139624657
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_021625.4(TRPV4):c.*230G>A rs181542514
NM_021625.4(TRPV4):c.*365C>T rs184413363
NM_021625.4(TRPV4):c.*378G>C rs538255561
NM_021625.4(TRPV4):c.*423G>A rs151286044
NM_021625.4(TRPV4):c.*486T>C rs79157363
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1284G>A (p.Gly428=) rs150773110
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) rs114653066
NM_021625.4(TRPV4):c.1584+18G>C rs10850750
NM_021625.4(TRPV4):c.1585-18C>T rs201974634
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2388C>T (p.Asn796=) rs116685089
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.28G>C (p.Ala10Pro) rs376436045
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.5(TRPV4):c.*190C>T
NM_021625.5(TRPV4):c.1333-16A>C
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749
NM_021629.4(GNB4):c.58-14dup rs112500963
NM_021629.4(GNB4):c.917-4del rs764075662
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087
NM_022489.4(INF2):c.1950-10C>T rs199987321
NM_022489.4(INF2):c.2138+9G>A rs201065953
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.507+7G>A rs201568246
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736
NM_022753.4(S100PBP):c.-120+178C>T
NM_022753.4(S100PBP):c.-120+19G>A rs534491159
NM_022753.4(S100PBP):c.-120+217C>T rs112104823
NM_022753.4(S100PBP):c.-120+238G>A rs72654022
NM_022753.4(S100PBP):c.-120+293G>C rs3737251
NM_022753.4(S100PBP):c.-120+296G>A rs547181978
NM_022753.4(S100PBP):c.-120+94C>A rs114349735
NM_022753.4(S100PBP):c.-123G>A rs115959445
NM_022753.4(S100PBP):c.-128C>T rs537314587
NM_024577.3(SH3TC2):c.*10099A>T rs570266229
NM_024577.3(SH3TC2):c.*10101C>T rs552099019
NM_024577.3(SH3TC2):c.*10120C>A rs13355933
NM_024577.3(SH3TC2):c.*10485G>A rs76931184
NM_024577.3(SH3TC2):c.*10767G>A rs139720866
NM_024577.3(SH3TC2):c.*10968G>A rs13166730
NM_024577.3(SH3TC2):c.*11120G>A rs2069087
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*11852G>T rs13359285
NM_024577.3(SH3TC2):c.*122G>T rs114151926
NM_024577.3(SH3TC2):c.*12969C>A rs76955068
NM_024577.3(SH3TC2):c.*1309C>T rs1007401
NM_024577.3(SH3TC2):c.*13514A>G rs78516040
NM_024577.3(SH3TC2):c.*14411G>A rs143623684
NM_024577.3(SH3TC2):c.*14562G>A rs17109198
NM_024577.3(SH3TC2):c.*14621G>T rs17795097
NM_024577.3(SH3TC2):c.*14766T>A rs891919
NM_024577.3(SH3TC2):c.*14856C>A rs891920
NM_024577.3(SH3TC2):c.*14894G>A rs17109192
NM_024577.3(SH3TC2):c.*15061C>T rs115722370
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*1639T>C rs1007400
NM_024577.3(SH3TC2):c.*16631G>A rs4705303
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17036C>G rs75086059
NM_024577.3(SH3TC2):c.*17317G>A rs78254952
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*17903A>G rs76444127
NM_024577.3(SH3TC2):c.*18299C>T rs147903089
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*19040A>G rs930205
NM_024577.3(SH3TC2):c.*1909G>T rs998304
NM_024577.3(SH3TC2):c.*19270G>A rs149188140
NM_024577.3(SH3TC2):c.*1935T>C rs6883926
NM_024577.3(SH3TC2):c.*19406A>T rs72835351
NM_024577.3(SH3TC2):c.*19519G>A rs10039839
NM_024577.3(SH3TC2):c.*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19573G>A rs4560536
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*20166T>A rs17795091
NM_024577.3(SH3TC2):c.*20463T>C rs77021631
NM_024577.3(SH3TC2):c.*2397G>A rs17722155
NM_024577.3(SH3TC2):c.*2428C>T rs149384180
NM_024577.3(SH3TC2):c.*2862G>A rs116548620
NM_024577.3(SH3TC2):c.*2900G>T rs3763019
NM_024577.3(SH3TC2):c.*2956C>T rs3763020
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*3196T>C rs3763022
NM_024577.3(SH3TC2):c.*3694T>A rs115774169
NM_024577.3(SH3TC2):c.*3860G>A rs1432797
NM_024577.3(SH3TC2):c.*391G>C rs117139060
NM_024577.3(SH3TC2):c.*4555A>G rs117287440
NM_024577.3(SH3TC2):c.*4719C>G rs6885467
NM_024577.3(SH3TC2):c.*47C>T rs79738100
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.*5799C>T rs17109208
NM_024577.3(SH3TC2):c.*5999G>A rs79866394
NM_024577.3(SH3TC2):c.*6051G>A rs146293131
NM_024577.3(SH3TC2):c.*6162C>T rs17795115
NM_024577.3(SH3TC2):c.*6242A>G rs142279453
NM_024577.3(SH3TC2):c.*6436G>T rs11168079
NM_024577.3(SH3TC2):c.*6510G>A rs116056843
NM_024577.3(SH3TC2):c.*6623G>A rs78100143
NM_024577.3(SH3TC2):c.*6692A>G rs11168078
NM_024577.3(SH3TC2):c.*719G>A rs10050933
NM_024577.3(SH3TC2):c.*7292C>T rs1347130
NM_024577.3(SH3TC2):c.*8053G>A rs115027318
NM_024577.3(SH3TC2):c.*8248G>C rs56309414
NM_024577.3(SH3TC2):c.*8756G>T rs7733177
NM_024577.3(SH3TC2):c.*929G>C rs1432798
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) rs144016931
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1653C>T (p.Phe551=) rs538871220
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.2868A>G (p.Leu956=) rs115507662
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.4(SH3TC2):c.*10614G>A
NM_024577.4(SH3TC2):c.*11604G>A
NM_024577.4(SH3TC2):c.*12190G>A
NM_024577.4(SH3TC2):c.*1246G>A
NM_024577.4(SH3TC2):c.*14750A>G
NM_024577.4(SH3TC2):c.*18699T>G
NM_024577.4(SH3TC2):c.*20207C>T
NM_024577.4(SH3TC2):c.*2237G>A
NM_024577.4(SH3TC2):c.*3246A>C
NM_024577.4(SH3TC2):c.*39A>C
NM_024577.4(SH3TC2):c.*4603C>T
NM_024577.4(SH3TC2):c.*4638A>T
NM_024577.4(SH3TC2):c.*6392C>T
NM_024577.4(SH3TC2):c.*7251A>G
NM_024577.4(SH3TC2):c.*7451C>T
NM_024577.4(SH3TC2):c.*9504G>A
NM_024577.4(SH3TC2):c.151+15_151+16del
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293
NM_024577.4(SH3TC2):c.385+4_385+8del rs148930563
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3794-20C>T rs116966215
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4693A>G (p.Ile1565Val) rs115345208
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030973.3(MED25):c.-12A>G rs114843375
NM_030973.3(MED25):c.1482+19G>A rs4802632
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_030973.3(MED25):c.165G>A (p.Thr55=) rs77400039
NM_030973.3(MED25):c.1674+19C>T rs752522
NM_030973.3(MED25):c.1727C>G (p.Ala576Gly) rs193291405
NM_030973.3(MED25):c.1794C>T (p.Ala598=) rs185100172
NM_030973.3(MED25):c.2031G>A (p.Ala677=) rs57854058
NM_030973.3(MED25):c.2088G>A (p.Leu696=) rs371157406
NM_030973.3(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.1101+24_1101+42dup
NM_138361.5(LRSAM1):c.*57G>A rs549468112
NM_138361.5(LRSAM1):c.-575C>T rs116498902
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1131T>A (p.Thr377=) rs141912153
NM_138361.5(LRSAM1):c.1353G>A (p.Ala451=) rs535634291
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1422+42_1422+43del
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.350T>C (p.Met117Thr) rs201772539
NM_138361.5(LRSAM1):c.414G>A (p.Lys138=) rs151323851
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.619+13C>T rs148704769
NM_138361.5(LRSAM1):c.750+33G>A rs2250267
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.903+38T>C rs1539569
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834
NM_138773.4(SLC25A46):c.563+6A>T rs114546039
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=) rs201039547
NM_138773.4(SLC25A46):c.678+14dup rs539229853
NM_139241.3(FGD4):c.*1007G>A rs114843464
NM_139241.3(FGD4):c.*1068A>G rs537833755
NM_139241.3(FGD4):c.*1133A>C rs10844268
NM_139241.3(FGD4):c.*1148C>T rs56110646
NM_139241.3(FGD4):c.*1454A>G rs7964947
NM_139241.3(FGD4):c.*1492T>G rs7980205
NM_139241.3(FGD4):c.*1564T>C
NM_139241.3(FGD4):c.*1723C>T rs4931030
NM_139241.3(FGD4):c.*1828A>T rs4931031
NM_139241.3(FGD4):c.*1954A>G rs1239829
NM_139241.3(FGD4):c.*2203T>C rs41276678
NM_139241.3(FGD4):c.*22G>A rs114284024
NM_139241.3(FGD4):c.*2537C>A rs115173894
NM_139241.3(FGD4):c.*27G>A
NM_139241.3(FGD4):c.*290G>A rs79732949
NM_139241.3(FGD4):c.*2928_*2931del rs549931906
NM_139241.3(FGD4):c.*3130G>A rs73087441
NM_139241.3(FGD4):c.*3130G>T rs73087441
NM_139241.3(FGD4):c.*3148del rs797002948
NM_139241.3(FGD4):c.*3340A>C rs75320947
NM_139241.3(FGD4):c.*3630T>C rs73313005
NM_139241.3(FGD4):c.*3770G>T rs11052123
NM_139241.3(FGD4):c.*4063A>G rs62642552
NM_139241.3(FGD4):c.*4128C>T rs12312970
NM_139241.3(FGD4):c.*4192G>T
NM_139241.3(FGD4):c.*4211T>C rs75583772
NM_139241.3(FGD4):c.*4369dup rs35874340
NM_139241.3(FGD4):c.*4438A>G rs11052124
NM_139241.3(FGD4):c.*4454G>A rs147515673
NM_139241.3(FGD4):c.*4652T>C rs16920125
NM_139241.3(FGD4):c.*4956T>A rs149215917
NM_139241.3(FGD4):c.*4988G>A
NM_139241.3(FGD4):c.*4991A>G rs1239830
NM_139241.3(FGD4):c.*5198G>A rs1133509
NM_139241.3(FGD4):c.*792A>T rs140601094
NM_139241.3(FGD4):c.-246G>C rs77113168
NM_139241.3(FGD4):c.-433C>T rs11052033
NM_139241.3(FGD4):c.1059C>T (p.Pro353=) rs16920084
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.885C>T (p.Phe295=) rs151083690
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1157+16G>A rs534807
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)
NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

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