ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 657
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HGVS dbSNP
DNM2, 9-BP DEL, NT1652
FGD4, 893T-G
GDAP1, 1-BP INS, 349T
GDAP1, IVS4DS, G-A, +1
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
GRCh37/hg19 17p12(chr17:14063251-15449627)
GRCh37/hg19 17p12(chr17:14101029-15449627)
GRCh37/hg19 17p12(chr17:14104012-15422557)
GRCh37/hg19 17p12(chr17:14104012-15551814)
GRCh37/hg19 17p12(chr17:14105874-15611546)
GRCh37/hg19 17p12(chr17:14110451-15449097)
GRCh37/hg19 17p12(chr17:14128550-15422557)
GRCh37/hg19 1q23.3(chr1:161255241-161276497)
GRCh37/hg19 2q13(chr2:110824957-110983703)
INF2, 9-BP DEL, NT490
MFN2, EX7-8DEL
MPZ, ASP195TYR
MPZ, THR216GLU-ARG
MTMR2, 10-BP DEL/2-BP INS
MTMR2, IVS13, G-A, +1
NC_000001.9:g.157610062_160185096del2575035
NC_000003.12:g.155116561T>A rs1057519024
NC_000003.12:g.155116987G>A rs1057519023
NC_000004.11:g.(?_154125663)_(154197302_?)del
NC_000005.9:g.(?_110079421)_(110079498_?)del
NC_000005.9:g.(?_130494966)_(130501051_?)del
NC_000005.9:g.(?_130495120)_(130500918_?)del
NC_000005.9:g.(?_148427405)_(148427572_?)del
NC_000005.9:g.(?_148442534)_(148442737_?)del
NC_000006.11:g.(?_110012619)_(110012724_?)del
NC_000006.11:g.(?_110062627)_(110064995_?)del
NC_000008.10:g.134265065_134271319dup
NC_000008.9:g.(75248716_75262617)_(75559358_75586021)del
NC_000009.11:g.(?_130263279)_(130263432_?)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NC_000012.11:g.(?_32729286)_(32772810_?)del
NC_000017.10:g.14087933_15500645dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NC_012920.1:m.9185T>C rs199476138
NG_007943.1:g.(43089_43830)_(47717_51712)dup
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_000166.6(GJB1):c.394T>C (p.Trp132Arg) rs1569215263
NM_000166.6(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.576del (p.Phe193fs)
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.590C>T (p.Ala197Val) rs1569215418
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.629_632del (p.Val210fs)
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.688C>T (p.Arg230Cys) rs587781246
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.6(GJB1):c.772del (p.Ser258fs)
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.785_786del (p.Ile262fs)
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.800del (p.Pro267fs)
NM_000166.6(GJB1):c.822del (p.Glu275fs)
NM_000166.6(GJB1):c.844dup (p.Ala282fs)
NM_000166.6(GJB1):c.89T>A (p.Ile30Asn) rs104894817
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.19_20del (p.Ser7fs) rs587776691
NM_000304.4(PMP22):c.236C>G (p.Ser79Cys) rs104894618
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter)
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.327C>A (p.Cys109Ter) rs863225028
NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del) rs786205111
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.434del (p.Leu145fs) rs863225029
NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.76del (p.Ser26fs)
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000530.6(MPZ):c.[241C>T;337G>T]
NM_000530.6(MPZ):c.[266T>A;274G>A;486C>G]
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.178G>C (p.Asp60His) rs121913604
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.188_190del (p.Ser63del) rs879254109
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)
NM_000530.8(MPZ):c.1A>G (p.Met1Val)
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys) rs1553259707
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.276G>A (p.Val92=) rs1558154193
NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) rs121913583
NM_000530.8(MPZ):c.290A>T (p.Glu97Val) rs121913606
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.308G>A (p.Gly103Glu) rs121913600
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr) rs121913609
NM_000530.8(MPZ):c.337G>T (p.Val113Phe) rs281865126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.367G>A (p.Gly123Ser) rs121913608
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) rs121913587
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) rs121913603
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs)
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.558del (p.Arg186fs) rs1553259568
NM_000530.8(MPZ):c.560del (p.Gln187fs)
NM_000530.8(MPZ):c.572_573AG[1] (p.Arg192fs)
NM_000530.8(MPZ):c.584+2T>G rs879254054
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.68-5_71del
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_000902.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_000902.4(MME):c.655-2A>G rs765591205
NM_000902.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005360.2(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_001015509.2(PTRH2):c.272_273del (p.Ala91fs) rs786201017
NM_001039550.2(DNAJB2):c.14A>G (p.Tyr5Cys) rs730882140
NM_001039550.2(DNAJB2):c.229+1G>A rs730882139
NM_001039550.2(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001130067.2(TRIM2):c.1919A>C (p.Asp640Ala) rs879253863
NM_001130067.2(TRIM2):c.680A>T (p.Glu227Val) rs587777063
NM_001130089.1(KARS1):c.398T>A (p.Leu133His) rs267607194
NM_001130089.1(KARS1):c.514_515dup (p.Tyr173fs) rs587776688
NM_001136473.1(LITAF):c.*24G>A rs797044847
NM_001136473.1(LITAF):c.*42C>A rs281865135
NM_001136473.1(LITAF):c.*42C>T rs281865135
NM_001136473.1(LITAF):c.*43C>G rs797044848
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136473.1(LITAF):c.364C>G (p.Leu122Val) rs104894522
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs)
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.505del (p.Met169fs)
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001605.2(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.2(AARS1):c.2333A>C (p.Glu778Ala) rs797044801
NM_001605.2(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_002047.4(GARS1):c.1031+1G>A
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1809+1G>A
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002109.6(HARS1):c.1090G>T (p.Asp364Tyr) rs863225124
NM_002109.6(HARS1):c.395C>T (p.Thr132Ile) rs143473232
NM_002109.6(HARS1):c.401C>A (p.Pro134His) rs863225122
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.525T>G (p.Asp175Glu) rs863225123
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.133del (p.Val45fs)
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2356del (p.Ala786fs)
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) rs587781262
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.362C>G (p.Ala121Gly) rs587777150
NM_002764.3(PRPS1):c.46T>C (p.Ser16Pro) rs869025594
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) rs587781263
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_003172.4(SURF1):c.107-2A>G rs782726390
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg) rs121908833
NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile) rs786204003
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del) rs786200893
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004373.3(COX6A1):c.247-10_247-6delCACTC rs587777783
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) rs781249411
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.152A>G (p.His51Arg) rs397514491
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter) rs397514492
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) rs397514489
NM_005340.7(HINT1):c.266G>T (p.Gly89Val) rs397514490
NM_005340.7(HINT1):c.278G>A (p.Gly93Asp) rs397514493
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_006070.6(TFG):c.806G>T (p.Gly269Val) rs587777789
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_006096.3(NDRG1):c.538-1G>A rs11575976
NM_006158.4(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1261C>T (p.Arg421Ter) rs191346286
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.4(NEFL):c.22_23delCCinsAG (p.Pro8Arg) rs60261494
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.281T>C (p.Leu94Pro) rs62636505
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.418G>T (p.Glu140Ter) rs121913663
NM_006158.4(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.4(NEFL):c.487G>T (p.Glu163Ter) rs876661155
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs) rs58640772
NM_006158.4(NEFL):c.628G>T (p.Glu210Ter) rs199422214
NM_006158.4(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.4(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.4(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006329.3(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006329.3(FBLN5):c.1235G>A (p.Gly412Glu) rs121434303
NM_006329.3(FBLN5):c.178G>C (p.Val60Leu) rs121434299
NM_006329.3(FBLN5):c.212G>A (p.Arg71Gln) rs121434300
NM_006329.3(FBLN5):c.259C>T (p.Pro87Ser) rs121434301
NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser) rs144288844
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.506T>C (p.Ile169Thr) rs28939072
NM_007126.5(VCP):c.290G>A (p.Gly97Glu) rs864309502
NM_007126.5(VCP):c.553G>A (p.Glu185Lys) rs864309501
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_014365.2(HSPB8):c.423G>C (p.Lys141Asn) rs104894345
NM_014365.2(HSPB8):c.423G>T (p.Lys141Asn) rs104894345
NM_014629.4(ARHGEF10):c.995C>T (p.Thr332Ile) rs28940281
NM_014845.5(FIG4):c.1043_1050del (p.Asp348fs) rs1368013631
NM_014845.5(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter)
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2299dup (p.Glu767fs)
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.290-2A>G
NM_014845.5(FIG4):c.290-2A>T rs587777715
NM_014845.5(FIG4):c.294del (p.Phe98fs) rs1562648373
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) rs587777714
NM_014874.3(MFN2):c.1071G>C (p.Lys357Asn) rs119103261
NM_014874.3(MFN2):c.107_109AGA[2] (p.Lys38del) rs1478175861
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1392+1G>A
NM_014874.3(MFN2):c.1392+2T>C rs111723244
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter)
NM_014874.3(MFN2):c.205G>T (p.Val69Phe) rs28940296
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.2256C>A (p.Tyr752Ter) rs863224968
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) rs28940293
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.3(MFN2):c.493C>G (p.His165Asp) rs119103262
NM_014874.3(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.3(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.3(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.3(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014874.3(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.3(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_015074.3(KIF1B):c.293A>T (p.Gln98Leu) rs121908160
NM_015263.4(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_015271.5(TRIM2):c.1781del (p.Lys594fs) rs587777838
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter)
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) rs387906900
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) rs879255592
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) rs121908376
NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) rs387906901
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015726.4(DCAF8):c.949C>T (p.Arg317Cys) rs587777425
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) rs863224516
NM_016156.5(MTMR2):c.1090C>T
NM_016156.5(MTMR2):c.1164G>A (p.Trp388Ter) rs1555060024
NM_016156.5(MTMR2):c.1276C>T (p.Gln426Ter) rs121434402
NM_016156.5(MTMR2):c.1444C>T (p.Gln482Ter) rs121434404
NM_016156.5(MTMR2):c.1454_1457del (p.Asp485fs)
NM_016156.5(MTMR2):c.1479+1G>A
NM_016156.5(MTMR2):c.1490dupC
NM_016156.5(MTMR2):c.1535_1536TA[3] (p.Ser514fs) rs1555057316
NM_016156.5(MTMR2):c.1768C>T (p.Gln590Ter) rs1565342506
NM_016156.5(MTMR2):c.454_458del (p.Glu152fs)
NM_016156.5(MTMR2):c.460_461GT[2] (p.Val154_Cys155insTer) rs1358449243
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016156.5(MTMR2):c.832C>T (p.Gln278Ter) rs757563721
NM_016156.5(MTMR2):c.883C>T
NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter) rs606231237
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.2:c.695_1077del rs1554548327
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_018972.4(GDAP1):c.467C>G (p.Ala156Gly) rs397515441
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.501_502AG[1] (p.Glu168fs) rs1221804567
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.579+1G>A rs864622501
NM_018972.4(GDAP1):c.579del (p.Lys193fs) rs1060500979
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) rs104894075
NM_018972.4(GDAP1):c.652C>G (p.Gln218Glu) rs121908113
NM_018972.4(GDAP1):c.678A>T (p.Arg226Ser) rs267606842
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) rs1554548334
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_018972.4(GDAP1):c.719G>A (p.Cys240Tyr) rs121908115
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter) rs770501034
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.821C>T (p.Pro274Leu) rs397515443
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) rs28937906
NM_018972.4(GDAP1):c.928del (p.Arg310fs)
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter) rs121908112
NM_018972.4(GDAP1):c.980G>A (p.Gly327Asp) rs397515432
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val)
NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003
NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) rs759212541
NM_020631.5(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter)
NM_020631.5(PLEKHG5):c.38del (p.Pro13fs) rs397515454
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs)
NM_020631.5(PLEKHG5):c.912_918dup (p.Glu307Ter) rs397515455
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter)
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_021076.4(NEFH):c.3010_3011del (p.Asp1004fs) rs876657411
NM_021076.4(NEFH):c.3017_3020dup (p.Pro1008fs) rs876657412
NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.311G>T (p.Cys104Phe) rs387907035
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>G (p.Leu132Arg) rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1366del (p.Asp455_Leu456insTer)
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.1520_1523del (p.Phe507fs) rs1561765311
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1586_1587delinsAG (p.Arg529Gln) rs863224454
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) rs863224520
NM_024577.3(SH3TC2):c.1745_1746AG[1] (p.Arg583fs) rs80338924
NM_024577.3(SH3TC2):c.1868_1869del (p.Gly623fs) rs1554121691
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1978C>T (p.Gln660Ter) rs1554121665
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_024577.3(SH3TC2):c.211C>T (p.Gln71Ter) rs864622663
NM_024577.3(SH3TC2):c.2146C>T (p.Gln716Ter) rs1561764925
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2191del (p.Glu731fs) rs80338928
NM_024577.3(SH3TC2):c.2418T>G (p.Tyr806Ter) rs1561764735
NM_024577.3(SH3TC2):c.2487_2488AG[2] (p.Leu832fs) rs80338929
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.2989del (p.Arg997fs)
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.3(SH3TC2):c.3425_3435del (p.Tyr1142fs) rs1222150652
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter)
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215
NM_024577.3(SH3TC2):c.496G>T (p.Glu166Ter) rs1554122847
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_024577.3(SH3TC2):c.688del (p.Val230fs)
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840
NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) rs863225440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs) rs863225439
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.2536+1G>A rs1060500001
NM_030962.3(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_033500.2(HK1):c.-390-3818G>C rs397514654
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1491_1492AG[1] (p.Glu498fs)
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1914G>A (p.Glu638=) rs387907032
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2081G>A (p.Cys694Tyr) rs886041051
NM_138361.5(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_138361.5(LRSAM1):c.2121_2122dup (p.Leu708fs) rs786200930
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765
NM_138773.4(SLC25A46):c.1022T>C (p.Leu341Pro) rs1057519294
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.425C>T (p.Thr142Ile) rs1057519296
NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073
NM_138773.4(SLC25A46):c.882_885dup (p.Asn296fs) rs1057518749
NM_138773.4(SLC25A46):c.998C>T (p.Pro333Leu) rs1057518750
NM_139241.3(FGD4):c.1043del (p.Pro348fs)
NM_139241.3(FGD4):c.1325G>A (p.Arg442His) rs281865063
NM_139241.3(FGD4):c.1626_1627AG[1] (p.Glu543fs) rs1565921326
NM_139241.3(FGD4):c.1698G>H (p.Met566Ile) rs281865064
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) rs778377449
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) rs118203973
NM_139241.3(FGD4):c.1762-2A>G rs281865065
NM_139241.3(FGD4):c.1863_1864CA[1] (p.Thr622fs) rs1555223595
NM_139241.3(FGD4):c.2211dup (p.Ala738fs) rs1565942358
NM_139241.3(FGD4):c.514del (p.Ala172fs) rs1565869918
NM_139241.3(FGD4):c.670C>T (p.Arg224Ter) rs118203972
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) rs118203974
NM_139241.3(FGD4):c.893T>C (p.Met298Thr) rs63749871
NM_139241.3(FGD4):c.893T>G (p.Met298Arg) rs63749871
NM_139241.3(FGD4):c.991del (p.Gln331fs) rs1393673267
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) rs80356537
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642
NM_170707.4(LMNA):c.1908C>T (p.Ser636=) rs80356814
NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) rs60864230
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338
NM_181882.2(PRX):c.1012del (p.Ala338fs) rs1555801290
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1173del (p.Arg392fs)
NM_181882.2(PRX):c.1390C>T (p.Arg464Ter)
NM_181882.2(PRX):c.1864C>T (p.Gln622Ter)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.2689C>T (p.Arg897Ter)
NM_181882.2(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.2(PRX):c.2853dup (p.Gly952fs) rs1568704829
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.627del (p.Ala210fs)
NM_181882.2(PRX):c.979del (p.Asp327fs) rs1568708792
NP_000521.1(MPZ):p.Asn116Ser
NR_039884.1(MIR4731):n.(?_-9031)_(1_70)del
PMP22, 1.1- to 1.5-MB DEL
PMP22, 1.4-MB DUP
PMP22, 1.4-MB TRIPLICATION
PRX, 10-BP INS, NT394
PRX, 4-BP DEL, 1194TTCC
SBF2, EX11-12DEL
SBF2, IVS32DS, G-C, +1
SCL25A46, 1.897-KB DEL

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