ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Molecular Genetics Laboratory,London Health Sciences Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 642
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HGVS dbSNP
NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)
NM_000166.6(GJB1):c.573C>T (p.Thr191=)
NM_000166.6(GJB1):c.637A>G (p.Ile213Val) rs753503984
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000304.4(PMP22):c.179-13C>G
NM_000304.4(PMP22):c.238CTGTTC[1] (p.80LF[1])
NM_000304.4(PMP22):c.284G>A (p.Arg95Lys) rs1555565234
NM_000304.4(PMP22):c.299G>T (p.Gly100Val) rs1597607638
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.397G>A (p.Gly133Ser)
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser)
NM_000304.4(PMP22):c.467T>C (p.Leu156Ser)
NM_000371.3(TTR):c.280G>C (p.Asp94His) rs730881164
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.368G>A (p.Arg123His) rs148538950
NM_000371.3(TTR):c.370C>T (p.Arg124Cys) rs745834030
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000399.5(EGR2):c.1183G>C (p.Glu395Gln)
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) rs746688326
NM_000399.5(EGR2):c.938A>G (p.His313Arg)
NM_000530.8(MPZ):c.149G>C (p.Cys50Ser)
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000530.8(MPZ):c.208C>A (p.Pro70Thr)
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.227C>T (p.Ala76Val) rs1170786711
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.317G>A (p.Arg106His) rs145039212
NM_000530.8(MPZ):c.319T>A (p.Trp107Arg)
NM_000530.8(MPZ):c.332C>T (p.Ser111Phe) rs1553259663
NM_000530.8(MPZ):c.346A>T (p.Asn116Tyr)
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg) rs753107323
NM_000530.8(MPZ):c.551T>C (p.Leu184Pro)
NM_000530.8(MPZ):c.569T>C (p.Leu190Pro)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln) rs770994564
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.659A>G (p.Tyr220Cys)
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*69G>A rs121908615
NM_001136473.1(LITAF):c.199C>T (p.Pro67Ser)
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.269G>A (p.Arg90His)
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001365951.3(KIF1B):c.1427G>T (p.Arg476Leu)
NM_001365951.3(KIF1B):c.1629G>T (p.Met543Ile)
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn)
NM_001365951.3(KIF1B):c.183A>G (p.Ser61=)
NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)
NM_001365951.3(KIF1B):c.1958C>A (p.Pro653His)
NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)
NM_001365951.3(KIF1B):c.3229C>T (p.Pro1077Ser)
NM_001365951.3(KIF1B):c.3259+3A>C
NM_001365951.3(KIF1B):c.4256G>A (p.Arg1419His)
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
NM_001365951.3(KIF1B):c.4409C>T (p.Ala1470Val)
NM_001365951.3(KIF1B):c.4810G>A (p.Val1604Ile)
NM_001365951.3(KIF1B):c.4844T>C (p.Ile1615Thr)
NM_001365951.3(KIF1B):c.4966C>T (p.Arg1656Trp)
NM_001365951.3(KIF1B):c.5231T>C (p.Ile1744Thr)
NM_001365951.3(KIF1B):c.5332C>G (p.Leu1778Val)
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202
NM_001365951.3(KIF1B):c.710C>T (p.Ser237Phe)
NM_001365951.3(KIF1B):c.959-16T>A
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val) rs1595626695
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
NM_001376.5(DYNC1H1):c.12651T>G (p.Asp4217Glu)
NM_001376.5(DYNC1H1):c.13609G>A (p.Glu4537Lys)
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
NM_001376.5(DYNC1H1):c.4264G>A (p.Val1422Ile)
NM_001376.5(DYNC1H1):c.4959C>A (p.His1653Gln)
NM_001376.5(DYNC1H1):c.4963A>C (p.Lys1655Gln)
NM_001376.5(DYNC1H1):c.5580A>T (p.Gln1860His)
NM_001376.5(DYNC1H1):c.702T>G (p.Asp234Glu)
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001540.5(HSPB1):c.-15G>A rs756260929
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.349G>A (p.Val117Met)
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.368A>C (p.Lys123Thr)
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001605.2(AARS1):c.1019A>G (p.Asn340Ser) rs140135726
NM_001605.2(AARS1):c.1108A>G (p.Met370Val) rs199976742
NM_001605.2(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.2(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234
NM_001605.2(AARS1):c.1409T>A (p.Ile470Asn) rs1567605658
NM_001605.2(AARS1):c.1420C>T (p.Arg474Trp) rs377163632
NM_001605.2(AARS1):c.1811A>G (p.Asn604Ser) rs371595630
NM_001605.2(AARS1):c.1823C>T (p.Thr608Met) rs1597435885
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2192C>T (p.Ser731Leu) rs150873930
NM_001605.2(AARS1):c.2222C>T (p.Thr741Met) rs148383122
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) rs370622071
NM_001605.2(AARS1):c.783C>G (p.Asp261Glu) rs1374950172
NM_001605.2(AARS1):c.958C>T (p.Arg320Cys) rs138490305
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422
NM_001605.3(AARS1):c.1208G>C (p.Ser403Thr) rs551899273
NM_001605.3(AARS1):c.1388T>C (p.Ile463Thr) rs1597439359
NM_001605.3(AARS1):c.1429G>A (p.Gly477Ser) rs1228135551
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729
NM_001605.3(AARS1):c.503C>T (p.Pro168Leu) rs763378637
NM_001605.3(AARS1):c.72G>A (p.Thr24=) rs780609058
NM_002047.4(GARS1):c.1426A>T (p.Thr476Ser)
NM_002047.4(GARS1):c.1429A>G (p.Lys477Glu)
NM_002047.4(GARS1):c.19G>T (p.Val7Leu) rs201132307
NM_002047.4(GARS1):c.2206A>C (p.Thr736Pro)
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527
NM_002180.3(IGHMBP2):c.1448A>T (p.Glu483Val)
NM_002180.3(IGHMBP2):c.1547G>A (p.Arg516His)
NM_002180.3(IGHMBP2):c.1605T>G (p.Ile535Met)
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met)
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.191T>C (p.Leu64Pro)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu)
NM_002180.3(IGHMBP2):c.2492G>C (p.Arg831Thr)
NM_002180.3(IGHMBP2):c.2548A>G (p.Ser850Gly)
NM_002180.3(IGHMBP2):c.2612-3C>T
NM_002180.3(IGHMBP2):c.2687C>T (p.Thr896Ile)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.338C>T (p.Ser113Leu)
NM_002180.3(IGHMBP2):c.455T>C (p.Leu152Pro)
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr)
NM_002180.3(IGHMBP2):c.551C>T (p.Pro184Leu)
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg)
NM_004208.4(AIFM1):c.1597G>A (p.Glu533Lys) rs1057517852
NM_004208.4(AIFM1):c.1627A>G (p.Ile543Val)
NM_004208.4(AIFM1):c.513G>A (p.Met171Ile)
NM_004208.4(AIFM1):c.602G>A (p.Arg201Lys) rs886703882
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
NM_004990.4(MARS1):c.1073C>G (p.Thr358Ser)
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171
NM_004990.4(MARS1):c.1172A>G (p.His391Arg)
NM_004990.4(MARS1):c.1180C>T (p.Arg394Cys) rs916967743
NM_004990.4(MARS1):c.1189G>A (p.Ala397Thr) rs1594821331
NM_004990.4(MARS1):c.1234G>A (p.Glu412Lys)
NM_004990.4(MARS1):c.1241G>A (p.Arg414Gln)
NM_004990.4(MARS1):c.1316G>A (p.Arg439Gln)
NM_004990.4(MARS1):c.1340G>A (p.Ser447Asn)
NM_004990.4(MARS1):c.1368+3A>T
NM_004990.4(MARS1):c.1427C>A (p.Pro476His)
NM_004990.4(MARS1):c.1430A>G (p.Asn477Ser)
NM_004990.4(MARS1):c.1448G>A (p.Arg483His)
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1852C>T (p.Arg618Cys) rs587777718
NM_004990.4(MARS1):c.1873C>T (p.Arg625Trp)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.2024C>G (p.Thr675Ser)
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2605G>C (p.Val869Leu)
NM_004990.4(MARS1):c.2609C>T (p.Ala870Val)
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.352C>T (p.Arg118Trp)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.986C>T (p.Pro329Leu)
NM_004990.4(MARS1):c.988C>A (p.Gln330Lys)
NM_005391.5(PDK3):c.1077+4C>T
NM_005391.5(PDK3):c.1115_1116delinsAG (p.Phe372Ter)
NM_005391.5(PDK3):c.467C>T (p.Thr156Ile)
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.664G>A (p.Gly222Ser) rs199995009
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.4(NDRG1):c.1081C>G (p.Arg361Gly)
NM_006096.4(NDRG1):c.12G>T (p.Glu4Asp)
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala)
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.635G>A (p.Arg212His)
NM_006096.4(NDRG1):c.637C>A (p.Gln213Lys)
NM_006096.4(NDRG1):c.703C>T rs772268356
NM_006096.4(NDRG1):c.706G>A (p.Asp236Asn)
NM_006096.4(NDRG1):c.895G>A (p.Ala299Thr)
NM_006158.4(NEFL):c.1007T>C (p.Leu336Pro) rs587777881
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.509C>G (p.Thr170Ser) rs541360328
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
NM_006158.5(NEFL):c.*2C>A
NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del)
NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)
NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)
NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)
NM_006158.5(NEFL):c.235A>G (p.Ile79Val)
NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)
NM_006415.4(SPTLC1):c.100T>G (p.Trp34Gly)
NM_006415.4(SPTLC1):c.1019C>T (p.Ser340Leu) rs371203080
NM_006415.4(SPTLC1):c.1043C>T (p.Ala348Val)
NM_006415.4(SPTLC1):c.1168C>T (p.Leu390Phe) rs369803886
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571
NM_006415.4(SPTLC1):c.1259T>C (p.Met420Thr)
NM_006415.4(SPTLC1):c.1302AGA[1] (p.Glu436del)
NM_006415.4(SPTLC1):c.1385C>A (p.Ser462Tyr) rs150792865
NM_006415.4(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735
NM_006415.4(SPTLC1):c.388G>T (p.Val130Leu) rs200773661
NM_006415.4(SPTLC1):c.442T>G (p.Leu148Val)
NM_006415.4(SPTLC1):c.640A>C (p.Met214Leu)
NM_006415.4(SPTLC1):c.876C>G (p.His292Gln)
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827
NM_006736.6(DNAJB2):c.493C>T (p.Arg165Cys) rs544935330
NM_006736.6(DNAJB2):c.674C>T (p.Pro225Leu) rs540759977
NM_006736.6(DNAJB2):c.868C>G (p.Gln290Glu)
NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)
NM_014845.5(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.6(FIG4):c.1122C>G (p.Ile374Met)
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
NM_014845.6(FIG4):c.1763A>G (p.Gln588Arg)
NM_014845.6(FIG4):c.1794C>A (p.Phe598Leu)
NM_014845.6(FIG4):c.1949-10T>G
NM_014845.6(FIG4):c.202G>A (p.Gly68Ser)
NM_014845.6(FIG4):c.2116G>T (p.Val706Phe)
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2327C>G (p.Ser776Cys)
NM_014845.6(FIG4):c.2441A>T (p.Asp814Val)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.498-13A>G
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014845.6(FIG4):c.799G>C (p.Val267Leu)
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.1118G>A (p.Arg373Gln) rs142042485
NM_014874.3(MFN2):c.1181G>A (p.Arg394His) rs538243357
NM_014874.3(MFN2):c.1574A>G (p.Asn525Ser) rs145654854
NM_014874.3(MFN2):c.1988G>T (p.Arg663Leu) rs766735605
NM_014874.3(MFN2):c.292A>G (p.Lys98Glu) rs1553141706
NM_014874.3(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.661G>C (p.Asp221His) rs1569842525
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014874.4(MFN2):c.1393-8G>A
NM_014874.4(MFN2):c.1488C>A (p.Asp496Glu)
NM_014874.4(MFN2):c.159C>G (p.Ser53Arg)
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874
NM_014874.4(MFN2):c.176-3C>T
NM_014874.4(MFN2):c.2093A>G (p.His698Arg)
NM_014874.4(MFN2):c.2120_2128del (p.Arg707_Asn709del)
NM_014874.4(MFN2):c.2171T>G (p.Leu724Arg)
NM_014874.4(MFN2):c.262A>G (p.Ile88Val)
NM_014874.4(MFN2):c.538A>C (p.Ser180Arg)
NM_014874.4(MFN2):c.628G>C (p.Asp210His)
NM_014874.4(MFN2):c.692C>G (p.Ser231Cys)
NM_014874.4(MFN2):c.757A>T (p.Ile253Phe)
NM_014874.4(MFN2):c.796G>A (p.Glu266Lys)
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_014874.4(MFN2):c.802G>A (p.Glu268Lys)
NM_014874.4(MFN2):c.913T>G (p.Ser305Ala)
NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)
NM_015074.3(KIF1B):c.1456C>G (p.Pro486Ala) rs201500946
NM_015074.3(KIF1B):c.146C>A (p.Ser49Tyr) rs143654307
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) rs145266399
NM_015074.3(KIF1B):c.1817C>T (p.Thr606Ile) rs142881321
NM_015074.3(KIF1B):c.2021C>T (p.Thr674Ile) rs41274468
NM_015074.3(KIF1B):c.2413T>A (p.Leu805Met) rs139572764
NM_015074.3(KIF1B):c.2480C>T (p.Thr827Ile) rs121908162
NM_015074.3(KIF1B):c.2689G>A (p.Ala897Thr) rs142567076
NM_015074.3(KIF1B):c.2905G>A (p.Ala969Thr) rs200614254
NM_015074.3(KIF1B):c.3002C>T (p.Ser1001Leu)
NM_015074.3(KIF1B):c.3269T>C (p.Ile1090Thr) rs374098797
NM_015074.3(KIF1B):c.3686C>G (p.Thr1229Arg) rs749610931
NM_015074.3(KIF1B):c.3754A>G (p.Ile1252Val) rs529804940
NM_015074.3(KIF1B):c.4073T>C (p.Val1358Ala) rs200561798
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1402G>C (p.Asp468His) rs142460913
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
NM_016156.5(MTMR2):c.1770+3A>G rs756909627
NM_016156.5(MTMR2):c.56C>T (p.Pro19Leu) rs574213477
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.6(MTMR2):c.*17G>A
NM_016156.6(MTMR2):c.-15T>C
NM_016156.6(MTMR2):c.139T>C (p.Ser47Pro)
NM_016156.6(MTMR2):c.1915G>T (p.Val639Phe)
NM_016156.6(MTMR2):c.841A>G (p.Ile281Val)
NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)
NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)
NM_018972.4(GDAP1):c.677G>A (p.Arg226Lys) rs1586806242
NM_018972.4(GDAP1):c.681T>A (p.Asn227Lys)
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1097C>T rs185112635
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T rs996865233
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*705G>A rs757322355
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*744C>T rs540526276
NM_020956.2(PRX):c.*887C>G rs751238438
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr) rs546287338
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344
NM_021625.4(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156
NM_021625.4(TRPV4):c.183C>T (p.Gly61=) rs773744592
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) rs770149544
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys) rs199624080
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His) rs1431224527
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly) rs989621170
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.746G>A (p.Arg249His) rs771294425
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.-16C>T
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn)
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp)
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln)
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs)
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp)
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp)
NM_021625.5(TRPV4):c.2336+1G>A
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu)
NM_021625.5(TRPV4):c.2524G>A (p.Val842Met)
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys)
NM_021625.5(TRPV4):c.2615A>G (p.Ter872Trp)
NM_021625.5(TRPV4):c.403C>T (p.Pro135Ser)
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu)
NM_021625.5(TRPV4):c.712+1G>T
NM_021625.5(TRPV4):c.796G>C (p.Ala266Pro)
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) rs146997517
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.279+4A>G rs371909418
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.3(SH3TC2):c.385+3A>G rs184593694
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) rs745613768
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala)
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr)
NM_024577.4(SH3TC2):c.1318C>T rs768012192
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro)
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu)
NM_024577.4(SH3TC2):c.1402_1403delinsTT rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser)
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys)
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val)
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr)
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser)
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg)
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys)
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala)
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met)
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met)
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile)
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn)
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met)
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361
NM_024577.4(SH3TC2):c.3204+5G>A
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr)
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp)
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly)
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr)
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val)
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu)
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
NM_030962.3(SBF2):c.1015C>G (p.Pro339Ala)
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) rs770153492
NM_030962.3(SBF2):c.1244G>T (p.Gly415Val)
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln) rs546485749
NM_030962.3(SBF2):c.1563A>G (p.Ile521Met)
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1632C>A (p.Phe544Leu)
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala) rs374114606
NM_030962.3(SBF2):c.1967G>C (p.Cys656Ser) rs138120231
NM_030962.3(SBF2):c.266A>C (p.Glu89Ala)
NM_030962.3(SBF2):c.3109C>T (p.Arg1037Cys)
NM_030962.3(SBF2):c.3127A>G (p.Ile1043Val) rs147438385
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3316A>G (p.Met1106Val)
NM_030962.3(SBF2):c.3383G>A (p.Gly1128Asp)
NM_030962.3(SBF2):c.3386G>C (p.Ser1129Thr)
NM_030962.3(SBF2):c.3518G>A (p.Arg1173His)
NM_030962.3(SBF2):c.3668T>C (p.Leu1223Ser)
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228
NM_030962.3(SBF2):c.4332A>C (p.Lys1444Asn)
NM_030962.3(SBF2):c.4355A>G (p.Lys1452Arg)
NM_030962.3(SBF2):c.4384A>T (p.Asn1462Tyr)
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705
NM_030962.3(SBF2):c.4981C>G (p.Gln1661Glu)
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484
NM_030962.3(SBF2):c.703A>G (p.Ser235Gly)
NM_030962.3(SBF2):c.808A>G (p.Thr270Ala)
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.913T>C (p.Cys305Arg)
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030973.3(MED25):c.107G>A (p.Arg36His) rs1555800954
NM_030973.3(MED25):c.135-6T>G rs199743509
NM_030973.3(MED25):c.1677G>C (p.Met559Ile) rs369006637
NM_030973.3(MED25):c.1889C>T (p.Pro630Leu) rs775342932
NM_030973.3(MED25):c.1966C>A (p.Pro656Thr) rs199761611
NM_030973.3(MED25):c.247C>G (p.Gln83Glu) rs143148835
NM_030973.3(MED25):c.4G>C (p.Val2Leu) rs780512266
NM_030973.3(MED25):c.556C>T (p.Arg186Trp) rs776291104
NM_030973.3(MED25):c.751G>A (p.Ala251Thr) rs775622130
NM_030973.3(MED25):c.908-3_908-2del rs766739944
NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)
NM_030973.4(MED25):c.125C>T (p.Pro42Leu)
NM_030973.4(MED25):c.1594G>A (p.Gly532Ser)
NM_030973.4(MED25):c.2045C>T (p.Pro682Leu)
NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)
NM_030973.4(MED25):c.249A>C (p.Gln83His)
NM_030973.4(MED25):c.413C>T (p.Thr138Met)
NM_030973.4(MED25):c.557G>A (p.Arg186Gln)
NM_030973.4(MED25):c.807_809del (p.Pro270del)
NM_138361.5(LRSAM1):c.1198C>T (p.Arg400Trp)
NM_138361.5(LRSAM1):c.1261A>G (p.Met421Val)
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1419C>A (p.Ser473Arg)
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1714C>T (p.Arg572Cys)
NM_138361.5(LRSAM1):c.1753C>G (p.His585Asp)
NM_138361.5(LRSAM1):c.1781G>A (p.Arg594His) rs537838691
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile) rs746831085
NM_138361.5(LRSAM1):c.1936G>T (p.Val646Phe)
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr) rs1588144651
NM_138361.5(LRSAM1):c.253-9C>A
NM_138361.5(LRSAM1):c.362G>A (p.Arg121His)
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.904-4del rs757987823
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.992C>T (p.Thr331Met)
NM_139241.3(FGD4):c.1091G>C (p.Arg364Thr) rs755934741
NM_139241.3(FGD4):c.1630G>A (p.Val544Ile)
NM_139241.3(FGD4):c.2095A>G (p.Met699Val) rs140220443
NM_139241.3(FGD4):c.263G>A (p.Cys88Tyr)
NM_139241.3(FGD4):c.479G>A (p.Gly160Asp) rs201826412
NM_139241.3(FGD4):c.691-5T>A
NM_139241.3(FGD4):c.95C>T (p.Ser32Leu) rs143251785
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
NM_170707.4(LMNA):c.571G>A (p.Val191Met) rs879253896
NM_170707.4(LMNA):c.583A>C (p.Asn195His)
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser) rs765241364
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.4(LMNA):c.897C>G (p.Ile299Met) rs762718963
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
NM_181882.3(PRX):c.2628G>A (p.Met876Ile)
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

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