NM_003803.4(MYOM1):c.1736C>T (p.Ser579Phe)
|
rs185573271
|
0.00031
|
NM_003803.4(MYOM1):c.1052G>A (p.Arg351Gln)
|
rs369420540
|
0.00029
|
NM_003803.4(MYOM1):c.3904G>A (p.Glu1302Lys)
|
rs370699565
|
0.00027
|
NM_003803.4(MYOM1):c.1391G>A (p.Arg464Gln)
|
rs370601300
|
0.00025
|
NM_003803.4(MYOM1):c.281C>G (p.Ser94Cys)
|
rs761148558
|
0.00025
|
NM_003803.4(MYOM1):c.3109G>A (p.Ala1037Thr)
|
rs199817096
|
0.00023
|
NM_003803.4(MYOM1):c.2848A>G (p.Met950Val)
|
rs184774935
|
0.00022
|
NM_003803.4(MYOM1):c.2851G>T (p.Val951Phe)
|
rs573023709
|
0.00021
|
NM_003803.4(MYOM1):c.4711C>T (p.Arg1571Cys)
|
rs373419422
|
0.00020
|
NM_003803.4(MYOM1):c.3097G>A (p.Glu1033Lys)
|
rs377512048
|
0.00019
|
NM_003803.4(MYOM1):c.3863C>T (p.Pro1288Leu)
|
rs200808890
|
0.00017
|
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp)
|
rs371754365
|
0.00016
|
NM_003803.4(MYOM1):c.65T>G (p.Val22Gly)
|
rs113162857
|
0.00016
|
NM_003803.4(MYOM1):c.1627G>A (p.Gly543Arg)
|
rs370063864
|
0.00015
|
NM_003803.4(MYOM1):c.2003G>A (p.Gly668Asp)
|
rs369493400
|
0.00014
|
NM_003803.4(MYOM1):c.4357A>T (p.Met1453Leu)
|
rs181642354
|
0.00013
|
NM_003803.4(MYOM1):c.1168C>T (p.Leu390Phe)
|
rs758497000
|
0.00011
|
NM_003803.4(MYOM1):c.125G>T (p.Gly42Val)
|
rs373243051
|
0.00011
|
NM_003803.4(MYOM1):c.2552C>T (p.Pro851Leu)
|
rs369604378
|
0.00011
|
NM_003803.4(MYOM1):c.2906A>G (p.Tyr969Cys)
|
rs200780735
|
0.00011
|
NM_003803.4(MYOM1):c.3223G>A (p.Val1075Met)
|
rs371066861
|
0.00011
|
NM_003803.4(MYOM1):c.566A>T (p.Gln189Leu)
|
rs373424159
|
0.00011
|
NM_003803.4(MYOM1):c.1058C>T (p.Ser353Leu)
|
rs200948763
|
0.00010
|
NM_003803.4(MYOM1):c.2324C>A (p.Ala775Glu)
|
rs765961982
|
0.00010
|
NM_003803.4(MYOM1):c.3578C>T (p.Thr1193Met)
|
rs755768408
|
0.00010
|
NM_003803.4(MYOM1):c.4243A>G (p.Ile1415Val)
|
rs190368385
|
0.00010
|
NM_003803.4(MYOM1):c.4383G>T (p.Leu1461Phe)
|
rs200144975
|
0.00010
|
NM_003803.4(MYOM1):c.1466A>G (p.Tyr489Cys)
|
rs369422118
|
0.00009
|
NM_003803.4(MYOM1):c.1991G>A (p.Arg664His)
|
rs373489373
|
0.00009
|
NM_003803.4(MYOM1):c.2137C>T (p.Arg713Cys)
|
rs375858580
|
0.00009
|
NM_003803.4(MYOM1):c.3413G>A (p.Arg1138His)
|
rs148782330
|
0.00008
|
NM_003803.4(MYOM1):c.3325G>A (p.Val1109Ile)
|
rs377448983
|
0.00007
|
NM_003803.4(MYOM1):c.4045C>T (p.Arg1349Trp)
|
rs762476268
|
0.00007
|
NM_003803.4(MYOM1):c.4046G>A (p.Arg1349Gln)
|
rs112504951
|
0.00007
|
NM_003803.4(MYOM1):c.554C>T (p.Thr185Met)
|
rs761722591
|
0.00007
|
NM_003803.4(MYOM1):c.1358C>T (p.Ser453Leu)
|
rs368424215
|
0.00006
|
NM_003803.4(MYOM1):c.1612G>A (p.Gly538Arg)
|
rs374025340
|
0.00006
|
NM_003803.4(MYOM1):c.1732C>T (p.Arg578Cys)
|
rs757545696
|
0.00006
|
NM_003803.4(MYOM1):c.2132G>A (p.Arg711His)
|
rs548747720
|
0.00006
|
NM_003803.4(MYOM1):c.2138G>A (p.Arg713His)
|
rs183881662
|
0.00006
|
NM_003803.4(MYOM1):c.2317dup (p.Ile773fs)
|
rs762570567
|
0.00006
|
NM_003803.4(MYOM1):c.2329G>A (p.Val777Ile)
|
rs372147749
|
0.00006
|
NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp)
|
rs776727177
|
0.00006
|
NM_003803.4(MYOM1):c.2717A>C (p.Glu906Ala)
|
rs760763098
|
0.00006
|
NM_003803.4(MYOM1):c.3196G>A (p.Gly1066Arg)
|
rs756554639
|
0.00006
|
NM_003803.4(MYOM1):c.3419G>A (p.Gly1140Glu)
|
rs375843420
|
0.00006
|
NM_003803.4(MYOM1):c.4000G>A (p.Val1334Ile)
|
rs763659581
|
0.00006
|
NM_003803.4(MYOM1):c.4148T>C (p.Ile1383Thr)
|
rs374491316
|
0.00006
|
NM_003803.4(MYOM1):c.4181A>G (p.Asp1394Gly)
|
rs374142554
|
0.00006
|
NM_003803.4(MYOM1):c.431G>A (p.Arg144His)
|
rs183139046
|
0.00006
|
NM_003803.4(MYOM1):c.685G>A (p.Ala229Thr)
|
rs762212739
|
0.00006
|
NM_003803.4(MYOM1):c.808G>A (p.Glu270Lys)
|
rs777614479
|
0.00006
|
NM_003803.4(MYOM1):c.920G>C (p.Arg307Pro)
|
rs199520642
|
0.00006
|
NM_003803.4(MYOM1):c.955G>A (p.Val319Ile)
|
rs200578492
|
0.00006
|
NM_003803.4(MYOM1):c.1051C>T (p.Arg351Trp)
|
rs375848036
|
0.00005
|
NM_003803.4(MYOM1):c.1222G>A (p.Asp408Asn)
|
rs138375140
|
0.00005
|
NM_003803.4(MYOM1):c.1438T>C (p.Tyr480His)
|
rs763945524
|
0.00005
|
NM_003803.4(MYOM1):c.1714A>G (p.Thr572Ala)
|
rs370992051
|
0.00005
|
NM_003803.4(MYOM1):c.2054G>A (p.Arg685Gln)
|
rs371246473
|
0.00005
|
NM_003803.4(MYOM1):c.2581G>A (p.Val861Met)
|
rs537504476
|
0.00005
|
NM_003803.4(MYOM1):c.2918G>A (p.Arg973His)
|
rs763991578
|
0.00005
|
NM_003803.4(MYOM1):c.3278C>T (p.Ala1093Val)
|
rs749676865
|
0.00005
|
NM_003803.4(MYOM1):c.626C>T (p.Thr209Met)
|
rs374540941
|
0.00005
|
NM_003803.4(MYOM1):c.1288A>G (p.Ile430Val)
|
rs764996297
|
0.00004
|
NM_003803.4(MYOM1):c.1304A>G (p.Lys435Arg)
|
rs978595865
|
0.00004
|
NM_003803.4(MYOM1):c.1502A>G (p.Asp501Gly)
|
rs374352178
|
0.00004
|
NM_003803.4(MYOM1):c.1568A>G (p.Lys523Arg)
|
rs372075959
|
0.00004
|
NM_003803.4(MYOM1):c.1703G>A (p.Arg568His)
|
rs769000504
|
0.00004
|
NM_003803.4(MYOM1):c.2173G>C (p.Glu725Gln)
|
rs201817118
|
0.00004
|
NM_003803.4(MYOM1):c.2429G>A (p.Arg810Gln)
|
rs368529890
|
0.00004
|
NM_003803.4(MYOM1):c.2582T>G (p.Val861Gly)
|
rs757989708
|
0.00004
|
NM_003803.4(MYOM1):c.2887G>A (p.Ala963Thr)
|
rs780452717
|
0.00004
|
NM_003803.4(MYOM1):c.3089A>G (p.Lys1030Arg)
|
rs902378657
|
0.00004
|
NM_003803.4(MYOM1):c.3125C>T (p.Pro1042Leu)
|
rs761951856
|
0.00004
|
NM_003803.4(MYOM1):c.3182C>T (p.Pro1061Leu)
|
rs1028776972
|
0.00004
|
NM_003803.4(MYOM1):c.3200G>A (p.Arg1067Gln)
|
rs767647566
|
0.00004
|
NM_003803.4(MYOM1):c.329C>T (p.Ser110Phe)
|
rs75131308
|
0.00004
|
NM_003803.4(MYOM1):c.3362C>T (p.Ala1121Val)
|
rs371614580
|
0.00004
|
NM_003803.4(MYOM1):c.3475G>A (p.Glu1159Lys)
|
rs764808541
|
0.00004
|
NM_003803.4(MYOM1):c.3523T>G (p.Tyr1175Asp)
|
rs370276820
|
0.00004
|
NM_003803.4(MYOM1):c.3772G>A (p.Gly1258Ser)
|
rs752486832
|
0.00004
|
NM_003803.4(MYOM1):c.3914T>C (p.Met1305Thr)
|
rs376804166
|
0.00004
|
NM_003803.4(MYOM1):c.409A>C (p.Met137Leu)
|
rs765511668
|
0.00004
|
NM_003803.4(MYOM1):c.4301G>A (p.Arg1434Gln)
|
rs776173695
|
0.00004
|
NM_003803.4(MYOM1):c.4717C>T (p.Arg1573Trp)
|
rs559625778
|
0.00004
|
NM_003803.4(MYOM1):c.538A>G (p.Thr180Ala)
|
rs553556385
|
0.00004
|
NM_003803.4(MYOM1):c.617A>G (p.Lys206Arg)
|
rs548278691
|
0.00004
|
NM_003803.4(MYOM1):c.686C>A (p.Ala229Asp)
|
rs866006864
|
0.00004
|
NM_003803.4(MYOM1):c.860C>T (p.Thr287Met)
|
rs558965614
|
0.00004
|
NM_003803.4(MYOM1):c.919C>T (p.Arg307Cys)
|
rs368343125
|
0.00004
|
NM_003803.4(MYOM1):c.1067A>G (p.Asn356Ser)
|
rs773694035
|
0.00003
|
NM_003803.4(MYOM1):c.1159A>G (p.Thr387Ala)
|
rs1033765822
|
0.00003
|
NM_003803.4(MYOM1):c.1279C>T (p.Arg427Cys)
|
rs376648139
|
0.00003
|
NM_003803.4(MYOM1):c.1370A>G (p.Gln457Arg)
|
rs757169901
|
0.00003
|
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val)
|
rs747035411
|
0.00003
|
NM_003803.4(MYOM1):c.1847G>A (p.Arg616His)
|
rs183893490
|
0.00003
|
NM_003803.4(MYOM1):c.1967T>C (p.Leu656Pro)
|
rs764958355
|
0.00003
|
NM_003803.4(MYOM1):c.2367C>G (p.Asn789Lys)
|
rs773582739
|
0.00003
|
NM_003803.4(MYOM1):c.3283A>G (p.Ile1095Val)
|
rs201308522
|
0.00003
|
NM_003803.4(MYOM1):c.3424A>G (p.Lys1142Glu)
|
rs371004562
|
0.00003
|
NM_003803.4(MYOM1):c.3547C>T (p.Arg1183Ter)
|
rs369979714
|
0.00003
|
NM_003803.4(MYOM1):c.3782G>A (p.Arg1261Gln)
|
rs374656485
|
0.00003
|
NM_003803.4(MYOM1):c.4120G>A (p.Val1374Ile)
|
rs776814232
|
0.00003
|
NM_003803.4(MYOM1):c.4390A>C (p.Thr1464Pro)
|
rs755587149
|
0.00003
|
NM_003803.4(MYOM1):c.4428A>C (p.Gln1476His)
|
rs929663462
|
0.00003
|
NM_003803.4(MYOM1):c.4799C>T (p.Pro1600Leu)
|
rs372260768
|
0.00003
|
NM_003803.4(MYOM1):c.4981G>A (p.Val1661Ile)
|
rs780903555
|
0.00003
|
NM_003803.4(MYOM1):c.850C>T (p.Arg284Cys)
|
rs1001422774
|
0.00003
|
NM_003803.4(MYOM1):c.1186C>T (p.Pro396Ser)
|
rs554996810
|
0.00002
|
NM_003803.4(MYOM1):c.1198G>C (p.Ala400Pro)
|
rs1221211210
|
0.00002
|
NM_003803.4(MYOM1):c.1566C>A (p.Asn522Lys)
|
rs989664122
|
0.00002
|
NM_003803.4(MYOM1):c.1609G>A (p.Gly537Arg)
|
rs1225172308
|
0.00002
|
NM_003803.4(MYOM1):c.1679A>G (p.Asn560Ser)
|
rs746723356
|
0.00002
|
NM_003803.4(MYOM1):c.1747C>T (p.Arg583Ter)
|
rs765191680
|
0.00002
|
NM_003803.4(MYOM1):c.1877T>C (p.Ile626Thr)
|
rs373827799
|
0.00002
|
NM_003803.4(MYOM1):c.1922C>T (p.Pro641Leu)
|
rs138431527
|
0.00002
|
NM_003803.4(MYOM1):c.1933T>A (p.Ser645Thr)
|
rs780950206
|
0.00002
|
NM_003803.4(MYOM1):c.199T>G (p.Ser67Ala)
|
rs373871002
|
0.00002
|
NM_003803.4(MYOM1):c.2086C>T (p.Arg696Cys)
|
rs757565820
|
0.00002
|
NM_003803.4(MYOM1):c.2161G>A (p.Gly721Ser)
|
rs747350384
|
0.00002
|
NM_003803.4(MYOM1):c.2308G>A (p.Gly770Arg)
|
rs192079897
|
0.00002
|
NM_003803.4(MYOM1):c.2444A>G (p.Asn815Ser)
|
rs753118578
|
0.00002
|
NM_003803.4(MYOM1):c.2515G>T (p.Val839Leu)
|
rs766698339
|
0.00002
|
NM_003803.4(MYOM1):c.2653C>G (p.Pro885Ala)
|
rs764303814
|
0.00002
|
NM_003803.4(MYOM1):c.3190C>T (p.His1064Tyr)
|
rs755409090
|
0.00002
|
NM_003803.4(MYOM1):c.3245C>G (p.Ala1082Gly)
|
rs368707213
|
0.00002
|
NM_003803.4(MYOM1):c.3280G>C (p.Ala1094Pro)
|
rs756462640
|
0.00002
|
NM_003803.4(MYOM1):c.3308G>A (p.Arg1103Gln)
|
rs186972208
|
0.00002
|
NM_003803.4(MYOM1):c.3340C>T (p.Arg1114Cys)
|
rs369479850
|
0.00002
|
NM_003803.4(MYOM1):c.3446A>G (p.Asp1149Gly)
|
rs781109917
|
0.00002
|
NM_003803.4(MYOM1):c.3502G>A (p.Glu1168Lys)
|
rs765967318
|
0.00002
|
NM_003803.4(MYOM1):c.351G>C (p.Lys117Asn)
|
rs766227907
|
0.00002
|
NM_003803.4(MYOM1):c.3886C>T (p.Arg1296Ter)
|
rs761289389
|
0.00002
|
NM_003803.4(MYOM1):c.4007A>T (p.Asp1336Val)
|
rs575609095
|
0.00002
|
NM_003803.4(MYOM1):c.431+5G>C
|
rs772009177
|
0.00002
|
NM_003803.4(MYOM1):c.4340-3C>T
|
rs1314554873
|
0.00002
|
NM_003803.4(MYOM1):c.4446T>G (p.Thr1482=)
|
rs367695432
|
0.00002
|
NM_003803.4(MYOM1):c.4468G>A (p.Val1490Ile)
|
rs749284571
|
0.00002
|
NM_003803.4(MYOM1):c.4568C>T (p.Pro1523Leu)
|
rs761317710
|
0.00002
|
NM_003803.4(MYOM1):c.4687C>G (p.Gln1563Glu)
|
rs772631678
|
0.00002
|
NM_003803.4(MYOM1):c.4786G>A (p.Val1596Met)
|
rs375965840
|
0.00002
|
NM_003803.4(MYOM1):c.4814C>T (p.Ser1605Leu)
|
rs373194302
|
0.00002
|
NM_003803.4(MYOM1):c.4828G>A (p.Glu1610Lys)
|
rs369026745
|
0.00002
|
NM_003803.4(MYOM1):c.4967C>T (p.Thr1656Ile)
|
rs749267113
|
0.00002
|
NM_003803.4(MYOM1):c.5005_5006insGT (p.Glu1669fs)
|
rs747369143
|
0.00002
|
NM_003803.4(MYOM1):c.548del (p.Gln183fs)
|
rs762972115
|
0.00002
|
NM_003803.4(MYOM1):c.74C>A (p.Thr25Asn)
|
rs1018439343
|
0.00002
|
NM_003803.4(MYOM1):c.92G>A (p.Arg31Gln)
|
rs777908113
|
0.00002
|
NM_003803.4(MYOM1):c.930-3T>C
|
rs1301794916
|
0.00002
|
NM_003803.4(MYOM1):c.1009C>G (p.Leu337Val)
|
rs756839782
|
0.00001
|
NM_003803.4(MYOM1):c.1061C>T (p.Ala354Val)
|
rs1330141140
|
0.00001
|
NM_003803.4(MYOM1):c.1089A>G (p.Ala363=)
|
rs765138983
|
0.00001
|
NM_003803.4(MYOM1):c.1111+4G>T
|
rs868100406
|
0.00001
|
NM_003803.4(MYOM1):c.1111A>G (p.Arg371Gly)
|
rs746477848
|
0.00001
|
NM_003803.4(MYOM1):c.1122del (p.Glu375fs)
|
rs1292871061
|
0.00001
|
NM_003803.4(MYOM1):c.1139G>A (p.Arg380His)
|
rs761231031
|
0.00001
|
NM_003803.4(MYOM1):c.1147G>A (p.Ala383Thr)
|
rs373382857
|
0.00001
|
NM_003803.4(MYOM1):c.1205G>A (p.Arg402Gln)
|
rs755208926
|
0.00001
|
NM_003803.4(MYOM1):c.1259A>G (p.Glu420Gly)
|
rs751057253
|
0.00001
|
NM_003803.4(MYOM1):c.1329G>A (p.Trp443Ter)
|
rs1482296191
|
0.00001
|
NM_003803.4(MYOM1):c.1339G>A (p.Gly447Arg)
|
rs768549156
|
0.00001
|
NM_003803.4(MYOM1):c.1340-3T>C
|
rs901661479
|
0.00001
|
NM_003803.4(MYOM1):c.1362A>G (p.Lys454=)
|
rs778965112
|
0.00001
|
NM_003803.4(MYOM1):c.1379G>T (p.Trp460Leu)
|
rs770564336
|
0.00001
|
NM_003803.4(MYOM1):c.1442C>G (p.Thr481Arg)
|
rs370177143
|
0.00001
|
NM_003803.4(MYOM1):c.1453C>T (p.Arg485Trp)
|
rs776661300
|
0.00001
|
NM_003803.4(MYOM1):c.1481G>A (p.Ser494Asn)
|
rs1598736306
|
0.00001
|
NM_003803.4(MYOM1):c.1489G>A (p.Val497Ile)
|
rs1188358300
|
0.00001
|
NM_003803.4(MYOM1):c.1501G>A (p.Asp501Asn)
|
rs755826763
|
0.00001
|
NM_003803.4(MYOM1):c.1514A>C (p.Glu505Ala)
|
rs777964604
|
0.00001
|
NM_003803.4(MYOM1):c.1559A>G (p.Glu520Gly)
|
rs955564161
|
0.00001
|
NM_003803.4(MYOM1):c.1598C>T (p.Pro533Leu)
|
rs978269307
|
0.00001
|
NM_003803.4(MYOM1):c.1600G>C (p.Ala534Pro)
|
rs200286140
|
0.00001
|
NM_003803.4(MYOM1):c.1670C>T (p.Ser557Leu)
|
rs138551719
|
0.00001
|
NM_003803.4(MYOM1):c.1698T>G (p.Phe566Leu)
|
rs779144286
|
0.00001
|
NM_003803.4(MYOM1):c.169G>A (p.Glu57Lys)
|
rs749096655
|
0.00001
|
NM_003803.4(MYOM1):c.1702C>T (p.Arg568Cys)
|
rs1027670115
|
0.00001
|
NM_003803.4(MYOM1):c.1748G>C (p.Arg583Pro)
|
rs759519206
|
0.00001
|
NM_003803.4(MYOM1):c.1750G>T (p.Val584Phe)
|
rs1463412933
|
0.00001
|
NM_003803.4(MYOM1):c.1805T>A (p.Val602Glu)
|
rs2080224677
|
0.00001
|
NM_003803.4(MYOM1):c.1820C>T (p.Pro607Leu)
|
rs746549717
|
0.00001
|
NM_003803.4(MYOM1):c.184C>T (p.Arg62Cys)
|
rs766972653
|
0.00001
|
NM_003803.4(MYOM1):c.1858C>T (p.Pro620Ser)
|
rs759939330
|
0.00001
|
NM_003803.4(MYOM1):c.1871A>G (p.Gln624Arg)
|
rs777175291
|
0.00001
|
NM_003803.4(MYOM1):c.1872G>C (p.Gln624His)
|
rs771542759
|
0.00001
|
NM_003803.4(MYOM1):c.1900+1G>A
|
rs370882551
|
0.00001
|
NM_003803.4(MYOM1):c.2017G>A (p.Val673Met)
|
rs763030971
|
0.00001
|
NM_003803.4(MYOM1):c.2039C>A (p.Thr680Lys)
|
rs776286600
|
0.00001
|
NM_003803.4(MYOM1):c.2063C>T (p.Thr688Met)
|
rs772170052
|
0.00001
|
NM_003803.4(MYOM1):c.2069T>C (p.Leu690Pro)
|
rs533974334
|
0.00001
|
NM_003803.4(MYOM1):c.2080T>C (p.Ser694Pro)
|
rs775000239
|
0.00001
|
NM_003803.4(MYOM1):c.2135T>C (p.Val712Ala)
|
rs1486875567
|
0.00001
|
NM_003803.4(MYOM1):c.2180C>T (p.Thr727Met)
|
rs766680309
|
0.00001
|
NM_003803.4(MYOM1):c.2197G>A (p.Gly733Arg)
|
rs2079944241
|
0.00001
|
NM_003803.4(MYOM1):c.2264T>C (p.Val755Ala)
|
rs1437205792
|
0.00001
|
NM_003803.4(MYOM1):c.2471A>G (p.Gln824Arg)
|
rs1245030749
|
0.00001
|
NM_003803.4(MYOM1):c.2507-4G>A
|
rs746487171
|
0.00001
|
NM_003803.4(MYOM1):c.2507G>T (p.Gly836Val)
|
rs758019001
|
0.00001
|
NM_003803.4(MYOM1):c.251G>A (p.Arg84Gln)
|
rs756788476
|
0.00001
|
NM_003803.4(MYOM1):c.2534C>T (p.Pro845Leu)
|
rs1208842664
|
0.00001
|
NM_003803.4(MYOM1):c.2566G>A (p.Ala856Thr)
|
rs781472387
|
0.00001
|
NM_003803.4(MYOM1):c.2574G>C (p.Arg858Ser)
|
rs1422382078
|
0.00001
|
NM_003803.4(MYOM1):c.2576G>A (p.Gly859Glu)
|
rs776749799
|
0.00001
|
NM_003803.4(MYOM1):c.2579G>A (p.Arg860His)
|
rs770953683
|
0.00001
|
NM_003803.4(MYOM1):c.2597C>T (p.Pro866Leu)
|
rs200218235
|
0.00001
|
NM_003803.4(MYOM1):c.259G>A (p.Ala87Thr)
|
rs777236126
|
0.00001
|
NM_003803.4(MYOM1):c.2607C>G (p.Phe869Leu)
|
rs1555620828
|
0.00001
|
NM_003803.4(MYOM1):c.2636C>G (p.Pro879Arg)
|
rs1366454578
|
0.00001
|
NM_003803.4(MYOM1):c.2643A>T (p.Lys881Asn)
|
rs1295554112
|
0.00001
|
NM_003803.4(MYOM1):c.270C>A (p.Tyr90Ter)
|
rs1598777961
|
0.00001
|
NM_003803.4(MYOM1):c.2788G>A (p.Asp930Asn)
|
rs1188848520
|
0.00001
|
NM_003803.4(MYOM1):c.2800C>T (p.Pro934Ser)
|
rs1207305590
|
0.00001
|
NM_003803.4(MYOM1):c.2824T>G (p.Cys942Gly)
|
rs2079794317
|
0.00001
|
NM_003803.4(MYOM1):c.2840G>A (p.Arg947His)
|
rs764056484
|
0.00001
|
NM_003803.4(MYOM1):c.2875A>G (p.Lys959Glu)
|
rs192365952
|
0.00001
|
NM_003803.4(MYOM1):c.2920G>A (p.Glu974Lys)
|
rs774931774
|
0.00001
|
NM_003803.4(MYOM1):c.2935G>A (p.Val979Ile)
|
rs764885157
|
0.00001
|
NM_003803.4(MYOM1):c.296C>A (p.Thr99Lys)
|
rs776516464
|
0.00001
|
NM_003803.4(MYOM1):c.2975G>T (p.Ser992Ile)
|
rs751491766
|
0.00001
|
NM_003803.4(MYOM1):c.2992-1G>A
|
rs778797883
|
0.00001
|
NM_003803.4(MYOM1):c.299A>G (p.Asp100Gly)
|
rs770734389
|
0.00001
|
NM_003803.4(MYOM1):c.3070G>A (p.Ala1024Thr)
|
rs370829334
|
0.00001
|
NM_003803.4(MYOM1):c.3187G>A (p.Val1063Ile)
|
rs777270890
|
0.00001
|
NM_003803.4(MYOM1):c.3206C>T (p.Pro1069Leu)
|
rs761782867
|
0.00001
|
NM_003803.4(MYOM1):c.3260G>A (p.Trp1087Ter)
|
rs374670754
|
0.00001
|
NM_003803.4(MYOM1):c.3261G>A (p.Trp1087Ter)
|
rs989927725
|
0.00001
|
NM_003803.4(MYOM1):c.3272A>G (p.Asn1091Ser)
|
rs771574423
|
0.00001
|
NM_003803.4(MYOM1):c.3292G>A (p.Val1098Ile)
|
rs747313165
|
0.00001
|
NM_003803.4(MYOM1):c.3341G>A (p.Arg1114His)
|
rs746247312
|
0.00001
|
NM_003803.4(MYOM1):c.3355A>C (p.Asn1119His)
|
rs375222378
|
0.00001
|
NM_003803.4(MYOM1):c.3392G>A (p.Gly1131Asp)
|
rs761342329
|
0.00001
|
NM_003803.4(MYOM1):c.3444G>A (p.Val1148=)
|
rs745657195
|
0.00001
|
NM_003803.4(MYOM1):c.3575+6G>T
|
rs2079391924
|
0.00001
|
NM_003803.4(MYOM1):c.3617G>A (p.Gly1206Asp)
|
rs911029463
|
0.00001
|
NM_003803.4(MYOM1):c.3631G>A (p.Asp1211Asn)
|
rs375099753
|
0.00001
|
NM_003803.4(MYOM1):c.3655G>C (p.Ala1219Pro)
|
rs1294388277
|
0.00001
|
NM_003803.4(MYOM1):c.3670A>G (p.Ile1224Val)
|
rs779638228
|
0.00001
|
NM_003803.4(MYOM1):c.3682+1G>T
|
rs769418179
|
0.00001
|
NM_003803.4(MYOM1):c.368T>C (p.Leu123Pro)
|
rs781647654
|
0.00001
|
NM_003803.4(MYOM1):c.3691C>T (p.Arg1231Cys)
|
rs730880166
|
0.00001
|
NM_003803.4(MYOM1):c.3745G>T (p.Glu1249Ter)
|
rs7229433
|
0.00001
|
NM_003803.4(MYOM1):c.3781C>T (p.Arg1261Trp)
|
rs776620810
|
0.00001
|
NM_003803.4(MYOM1):c.3813C>T (p.Gly1271=)
|
rs771659817
|
0.00001
|
NM_003803.4(MYOM1):c.3876G>A (p.Met1292Ile)
|
rs1329139893
|
0.00001
|
NM_003803.4(MYOM1):c.3878A>G (p.His1293Arg)
|
rs1438274216
|
0.00001
|
NM_003803.4(MYOM1):c.3979A>C (p.Asn1327His)
|
rs938475906
|
0.00001
|
NM_003803.4(MYOM1):c.3986C>A (p.Ser1329Tyr)
|
rs772132509
|
0.00001
|
NM_003803.4(MYOM1):c.4195T>C (p.Ser1399Pro)
|
rs2079150081
|
0.00001
|
NM_003803.4(MYOM1):c.4270G>A (p.Gly1424Arg)
|
rs376646252
|
0.00001
|
NM_003803.4(MYOM1):c.4271G>A (p.Gly1424Glu)
|
rs752659443
|
0.00001
|
NM_003803.4(MYOM1):c.4300C>T (p.Arg1434Ter)
|
rs759049538
|
0.00001
|
NM_003803.4(MYOM1):c.4351C>G (p.Leu1451Val)
|
rs876657917
|
0.00001
|
NM_003803.4(MYOM1):c.4369A>C (p.Lys1457Gln)
|
rs772608447
|
0.00001
|
NM_003803.4(MYOM1):c.446G>A (p.Ser149Asn)
|
rs1474122021
|
0.00001
|
NM_003803.4(MYOM1):c.4496T>C (p.Ile1499Thr)
|
rs1060502820
|
0.00001
|
NM_003803.4(MYOM1):c.4580G>T (p.Gly1527Val)
|
rs1411286868
|
0.00001
|
NM_003803.4(MYOM1):c.4586A>G (p.Tyr1529Cys)
|
rs876657918
|
0.00001
|
NM_003803.4(MYOM1):c.4654G>A (p.Asp1552Asn)
|
rs759276149
|
0.00001
|
NM_003803.4(MYOM1):c.4741G>A (p.Val1581Met)
|
rs369605033
|
0.00001
|
NM_003803.4(MYOM1):c.4764G>A (p.Lys1588=)
|
rs1314931794
|
0.00001
|
NM_003803.4(MYOM1):c.481G>A (p.Glu161Lys)
|
rs914532145
|
0.00001
|
NM_003803.4(MYOM1):c.4886C>T (p.Ala1629Val)
|
rs1450498737
|
0.00001
|
NM_003803.4(MYOM1):c.4933G>A (p.Gly1645Arg)
|
rs765682686
|
0.00001
|
NM_003803.4(MYOM1):c.494A>G (p.Tyr165Cys)
|
rs775138562
|
0.00001
|
NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met)
|
rs751200138
|
0.00001
|
NM_003803.4(MYOM1):c.500C>T (p.Ala167Val)
|
rs1567958745
|
0.00001
|
NM_003803.4(MYOM1):c.57C>G (p.Asn19Lys)
|
rs781278462
|
0.00001
|
NM_003803.4(MYOM1):c.592G>A (p.Ala198Thr)
|
rs749346618
|
0.00001
|
NM_003803.4(MYOM1):c.607A>G (p.Thr203Ala)
|
rs369999119
|
0.00001
|
NM_003803.4(MYOM1):c.646G>A (p.Ala216Thr)
|
rs1229084764
|
0.00001
|
NM_003803.4(MYOM1):c.68G>A (p.Arg23His)
|
rs369921436
|
0.00001
|
NM_003803.4(MYOM1):c.727G>C (p.Val243Leu)
|
rs201352656
|
0.00001
|
NM_003803.4(MYOM1):c.771+3A>G
|
rs1191646290
|
0.00001
|
NM_003803.4(MYOM1):c.776A>G (p.Glu259Gly)
|
rs752850247
|
0.00001
|
NM_003803.4(MYOM1):c.89A>T (p.Gln30Leu)
|
rs959971633
|
0.00001
|
NM_003803.4(MYOM1):c.914A>T (p.Glu305Val)
|
rs1477896162
|
0.00001
|
NM_003803.4(MYOM1):c.977A>G (p.Tyr326Cys)
|
rs773366188
|
0.00001
|
NC_000018.10:g.(?_3067252)_(3094316_?)del
|
|
|
NC_000018.10:g.(?_3067252)_(3215233_?)dup
|
|
|
NC_000018.9:g.(?_3067250)_(3079350_?)dup
|
|
|
NC_000018.9:g.(?_3067260)_(3215221_?)del
|
|
|
NC_000018.9:g.(?_3075432)_(3075779_?)del
|
|
|
NC_000018.9:g.(?_3090636)_(3090820_?)del
|
|
|
NC_000018.9:g.(?_3100137)_(3100221_?)del
|
|
|
NC_000018.9:g.(?_3112276)_(3116533_?)del
|
|
|
NC_000018.9:g.(?_3114702)_(3119951_?)del
|
|
|
NC_000018.9:g.(?_3168795)_(3174226_?)del
|
|
|
NC_000018.9:g.(?_3168809)_(3168985_?)dup
|
|
|
NC_000018.9:g.(?_3168815)_(3168979_?)dup
|
|
|
NC_000018.9:g.(?_3214912)_(3215221_?)del
|
|
|
NM_003803.4(MYOM1):c.1006A>G (p.Thr336Ala)
|
|
|
NM_003803.4(MYOM1):c.1022_1022+1delinsCA
|
rs1555627004
|
|
NM_003803.4(MYOM1):c.1048T>G (p.Tyr350Asp)
|
rs1487619209
|
|
NM_003803.4(MYOM1):c.1049A>C (p.Tyr350Ser)
|
|
|
NM_003803.4(MYOM1):c.1065G>C (p.Met355Ile)
|
|
|
NM_003803.4(MYOM1):c.1085C>T (p.Ser362Leu)
|
|
|
NM_003803.4(MYOM1):c.1094C>A (p.Ala365Asp)
|
|
|
NM_003803.4(MYOM1):c.1112-3T>C
|
|
|
NM_003803.4(MYOM1):c.1121G>A (p.Gly374Glu)
|
|
|
NM_003803.4(MYOM1):c.1133A>G (p.Glu378Gly)
|
rs2144089219
|
|
NM_003803.4(MYOM1):c.1138C>T (p.Arg380Cys)
|
|
|
NM_003803.4(MYOM1):c.1139G>C (p.Arg380Pro)
|
rs761231031
|
|
NM_003803.4(MYOM1):c.1145A>G (p.His382Arg)
|
|
|
NM_003803.4(MYOM1):c.1145_1146inv (p.His382Arg)
|
|
|
NM_003803.4(MYOM1):c.1148C>T (p.Ala383Val)
|
|
|
NM_003803.4(MYOM1):c.1153G>T (p.Ala385Ser)
|
|
|
NM_003803.4(MYOM1):c.115T>A (p.Tyr39Asn)
|
|
|
NM_003803.4(MYOM1):c.1174+1G>A
|
|
|
NM_003803.4(MYOM1):c.1175-3C>T
|
rs1598739642
|
|
NM_003803.4(MYOM1):c.1184C>A (p.Thr395Asn)
|
rs1404270892
|
|
NM_003803.4(MYOM1):c.118A>G (p.Thr40Ala)
|
rs372161153
|
|
NM_003803.4(MYOM1):c.119C>T (p.Thr40Ile)
|
rs759358324
|
|
NM_003803.4(MYOM1):c.1210G>A (p.Glu404Lys)
|
|
|
NM_003803.4(MYOM1):c.1213A>G (p.Ile405Val)
|
rs2144068407
|
|
NM_003803.4(MYOM1):c.1213A>T (p.Ile405Phe)
|
rs2144068407
|
|
NM_003803.4(MYOM1):c.1223A>T (p.Asp408Val)
|
|
|
NM_003803.4(MYOM1):c.1235A>T (p.Asp412Val)
|
rs767444514
|
|
NM_003803.4(MYOM1):c.1252G>C (p.Glu418Gln)
|
rs1567947051
|
|
NM_003803.4(MYOM1):c.1261A>G (p.Thr421Ala)
|
|
|
NM_003803.4(MYOM1):c.1268G>C (p.Ser423Thr)
|
rs1598739512
|
|
NM_003803.4(MYOM1):c.1280G>A (p.Arg427His)
|
|
|
NM_003803.4(MYOM1):c.1316C>G (p.Pro439Arg)
|
|
|
NM_003803.4(MYOM1):c.1322T>C (p.Ile441Thr)
|
rs773743579
|
|
NM_003803.4(MYOM1):c.1334G>T (p.Arg445Ile)
|
rs558801546
|
|
NM_003803.4(MYOM1):c.133G>T (p.Ala45Ser)
|
rs749964099
|
|
NM_003803.4(MYOM1):c.1353_1354del (p.Pro452fs)
|
|
|
NM_003803.4(MYOM1):c.1354C>G (p.Pro452Ala)
|
rs2080440437
|
|
NM_003803.4(MYOM1):c.1365G>T (p.Trp455Cys)
|
rs374593777
|
|
NM_003803.4(MYOM1):c.1366G>A (p.Val456Met)
|
rs2080440129
|
|
NM_003803.4(MYOM1):c.1378T>C (p.Trp460Arg)
|
rs781034408
|
|
NM_003803.4(MYOM1):c.1390C>T (p.Arg464Trp)
|
|
|
NM_003803.4(MYOM1):c.1396A>C (p.Thr466Pro)
|
|
|
NM_003803.4(MYOM1):c.1405T>C (p.Phe469Leu)
|
|
|
NM_003803.4(MYOM1):c.1412A>G (p.His471Arg)
|
|
|
NM_003803.4(MYOM1):c.1418A>G (p.Asn473Ser)
|
|
|
NM_003803.4(MYOM1):c.1424A>C (p.Glu475Ala)
|
rs1567944437
|
|
NM_003803.4(MYOM1):c.1426del (p.Asp476fs)
|
rs2144049001
|
|
NM_003803.4(MYOM1):c.142A>G (p.Ser48Gly)
|
|
|
NM_003803.4(MYOM1):c.142A>T (p.Ser48Cys)
|
rs1234403854
|
|
NM_003803.4(MYOM1):c.1433G>T (p.Gly478Val)
|
rs1306648993
|
|
NM_003803.4(MYOM1):c.1442C>T (p.Thr481Ile)
|
|
|
NM_003803.4(MYOM1):c.1444A>G (p.Ile482Val)
|
|
|
NM_003803.4(MYOM1):c.1450G>A (p.Val484Ile)
|
|
|
NM_003803.4(MYOM1):c.1454G>A (p.Arg485Gln)
|
rs376821263
|
|
NM_003803.4(MYOM1):c.1458G>A (p.Met486Ile)
|
|
|
NM_003803.4(MYOM1):c.1473del (p.Glu491fs)
|
rs2080437915
|
|
NM_003803.4(MYOM1):c.1474del (p.Gln492fs)
|
rs2144048623
|
|
NM_003803.4(MYOM1):c.1498C>T (p.Arg500Ter)
|
|
|
NM_003803.4(MYOM1):c.1499G>A (p.Arg500Gln)
|
|
|
NM_003803.4(MYOM1):c.1501+6T>A
|
|
|
NM_003803.4(MYOM1):c.1502-3C>T
|
rs1173337647
|
|
NM_003803.4(MYOM1):c.1525G>T (p.Ala509Ser)
|
rs748712491
|
|
NM_003803.4(MYOM1):c.1565A>G (p.Asn522Ser)
|
|
|
NM_003803.4(MYOM1):c.1571A>T (p.Asp524Val)
|
|
|
NM_003803.4(MYOM1):c.157G>A (p.Ala53Thr)
|
|
|
NM_003803.4(MYOM1):c.1597C>T (p.Pro533Ser)
|
|
|
NM_003803.4(MYOM1):c.1606G>T (p.Asp536Tyr)
|
|
|
NM_003803.4(MYOM1):c.1622T>G (p.Ile541Ser)
|
|
|
NM_003803.4(MYOM1):c.1626C>A (p.Leu542=)
|
|
|
NM_003803.4(MYOM1):c.1690G>C (p.Val564Leu)
|
rs2080227826
|
|
NM_003803.4(MYOM1):c.1702C>G (p.Arg568Gly)
|
|
|
NM_003803.4(MYOM1):c.1719A>T (p.Gly573=)
|
rs937051314
|
|
NM_003803.4(MYOM1):c.1726G>A (p.Glu576Lys)
|
|
|
NM_003803.4(MYOM1):c.1733G>A (p.Arg578His)
|
rs200374196
|
|
NM_003803.4(MYOM1):c.1737dup (p.Tyr580fs)
|
rs1598726218
|
|
NM_003803.4(MYOM1):c.1754G>A (p.Arg585Gln)
|
|
|
NM_003803.4(MYOM1):c.175G>A (p.Glu59Lys)
|
rs878854614
|
|
NM_003803.4(MYOM1):c.1787C>G (p.Ser596Cys)
|
rs1248946207
|
|
NM_003803.4(MYOM1):c.1787C>T (p.Ser596Phe)
|
|
|
NM_003803.4(MYOM1):c.1798G>A (p.Glu600Lys)
|
|
|
NM_003803.4(MYOM1):c.1837C>T (p.Leu613Phe)
|
|
|
NM_003803.4(MYOM1):c.1846C>T (p.Arg616Cys)
|
|
|
NM_003803.4(MYOM1):c.185G>A (p.Arg62His)
|
|
|
NM_003803.4(MYOM1):c.1862G>C (p.Trp621Ser)
|
|
|
NM_003803.4(MYOM1):c.1882A>G (p.Thr628Ala)
|
|
|
NM_003803.4(MYOM1):c.1885G>A (p.Glu629Lys)
|
rs1221446387
|
|
NM_003803.4(MYOM1):c.1904G>A (p.Gly635Asp)
|
|
|
NM_003803.4(MYOM1):c.190G>A (p.Ala64Thr)
|
|
|
NM_003803.4(MYOM1):c.1916G>T (p.Gly639Val)
|
rs1386718417
|
|
NM_003803.4(MYOM1):c.1922del (p.Pro641fs)
|
|
|
NM_003803.4(MYOM1):c.1927G>A (p.Asp643Asn)
|
|
|
NM_003803.4(MYOM1):c.1951C>T (p.Arg651Trp)
|
|
|
NM_003803.4(MYOM1):c.1955G>A (p.Ser652Asn)
|
rs752331737
|
|
NM_003803.4(MYOM1):c.1963G>A (p.Val655Met)
|
rs2143941457
|
|
NM_003803.4(MYOM1):c.1978C>T (p.Pro660Ser)
|
rs201104206
|
|
NM_003803.4(MYOM1):c.197C>T (p.Ala66Val)
|
rs1188423604
|
|
NM_003803.4(MYOM1):c.19C>T (p.Gln7Ter)
|
rs774833040
|
|
NM_003803.4(MYOM1):c.2026T>C (p.Cys676Arg)
|
|
|
NM_003803.4(MYOM1):c.203C>A (p.Ser68Tyr)
|
rs565442597
|
|
NM_003803.4(MYOM1):c.2053C>T (p.Arg685Ter)
|
rs1475217854
|
|
NM_003803.4(MYOM1):c.2087G>T (p.Arg696Leu)
|
|
|
NM_003803.4(MYOM1):c.208C>T (p.Gln70Ter)
|
rs2081243760
|
|
NM_003803.4(MYOM1):c.2114G>A (p.Gly705Glu)
|
|
|
NM_003803.4(MYOM1):c.2123_2125del (p.Tyr708del)
|
rs761028638
|
|
NM_003803.4(MYOM1):c.212A>T (p.Gln71Leu)
|
rs878922094
|
|
NM_003803.4(MYOM1):c.2131C>T (p.Arg711Cys)
|
rs368232161
|
|
NM_003803.4(MYOM1):c.2141G>C (p.Cys714Ser)
|
|
|
NM_003803.4(MYOM1):c.2161G>T (p.Gly721Cys)
|
|
|
NM_003803.4(MYOM1):c.2177C>G (p.Ala726Gly)
|
|
|
NM_003803.4(MYOM1):c.2185G>A (p.Val729Met)
|
|
|
NM_003803.4(MYOM1):c.2205A>T (p.Lys735Asn)
|
|
|
NM_003803.4(MYOM1):c.2209+4A>G
|
rs1567926056
|
|
NM_003803.4(MYOM1):c.2222C>T (p.Ala741Val)
|
|
|
NM_003803.4(MYOM1):c.2236A>C (p.Ile746Leu)
|
|
|
NM_003803.4(MYOM1):c.2257dup (p.Thr753fs)
|
rs770522680
|
|
NM_003803.4(MYOM1):c.2263G>A (p.Val755Met)
|
|
|
NM_003803.4(MYOM1):c.2273C>T (p.Ser758Leu)
|
|
|
NM_003803.4(MYOM1):c.2299_2300inv (p.Glu767Ser)
|
|
|
NM_003803.4(MYOM1):c.2318T>C (p.Ile773Thr)
|
|
|
NM_003803.4(MYOM1):c.2320G>A (p.Glu774Lys)
|
|
|
NM_003803.4(MYOM1):c.2324C>T (p.Ala775Val)
|
|
|
NM_003803.4(MYOM1):c.2346G>C (p.Lys782Asn)
|
rs371797353
|
|
NM_003803.4(MYOM1):c.2357G>A (p.Cys786Tyr)
|
|
|
NM_003803.4(MYOM1):c.2371G>A (p.Val791Met)
|
|
|
NM_003803.4(MYOM1):c.2378G>T (p.Gly793Val)
|
rs2079928717
|
|
NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly)
|
rs201618512
|
|
NM_003803.4(MYOM1):c.2383C>T (p.Arg795Ter)
|
rs201618512
|
|
NM_003803.4(MYOM1):c.2384+12G>A
|
|
|
NM_003803.4(MYOM1):c.2384G>A (p.Arg795Gln)
|
|
|
NM_003803.4(MYOM1):c.2385-19A>G
|
rs1361865610
|
|
NM_003803.4(MYOM1):c.2390C>G (p.Thr797Ser)
|
|
|
NM_003803.4(MYOM1):c.239C>G (p.Ser80Cys)
|
|
|
NM_003803.4(MYOM1):c.2411G>A (p.Gly804Asp)
|
|
|
NM_003803.4(MYOM1):c.2429G>C (p.Arg810Pro)
|
|
|
NM_003803.4(MYOM1):c.2485A>G (p.Ile829Val)
|
|
|
NM_003803.4(MYOM1):c.2506+4A>G
|
|
|
NM_003803.4(MYOM1):c.2509G>A (p.Gly837Arg)
|
|
|
NM_003803.4(MYOM1):c.2513G>A (p.Gly838Glu)
|
rs2143879947
|
|
NM_003803.4(MYOM1):c.2531G>T (p.Cys844Phe)
|
|
|
NM_003803.4(MYOM1):c.2545G>A (p.Asp849Asn)
|
rs913259879
|
|
NM_003803.4(MYOM1):c.2577dup (p.Arg860fs)
|
|
|
NM_003803.4(MYOM1):c.2581G>T (p.Val861Leu)
|
rs537504476
|
|
NM_003803.4(MYOM1):c.2587G>C (p.Glu863Gln)
|
rs2143878899
|
|
NM_003803.4(MYOM1):c.2617G>A (p.Ala873Thr)
|
rs1598703350
|
|
NM_003803.4(MYOM1):c.2623C>T (p.Leu875Phe)
|
|
|
NM_003803.4(MYOM1):c.2630G>C (p.Ser877Thr)
|
rs1313786328
|
|
NM_003803.4(MYOM1):c.263C>T (p.Ser88Leu)
|
rs758070531
|
|
NM_003803.4(MYOM1):c.2685A>G (p.Glu895=)
|
|
|
NM_003803.4(MYOM1):c.2688G>A (p.Val896=)
|
|
|
NM_003803.4(MYOM1):c.2690G>A (p.Ser897Asn)
|
|
|
NM_003803.4(MYOM1):c.2701_2702delinsTG (p.Glu901Ter)
|
|
|
NM_003803.4(MYOM1):c.2711A>C (p.Gln904Pro)
|
rs2079841139
|
|
NM_003803.4(MYOM1):c.2713G>T (p.Glu905Ter)
|
rs2079840976
|
|
NM_003803.4(MYOM1):c.2728C>G (p.Pro910Ala)
|
|
|
NM_003803.4(MYOM1):c.2731C>T (p.Pro911Ser)
|
|
|
NM_003803.4(MYOM1):c.2744C>G (p.Ala915Gly)
|
|
|
NM_003803.4(MYOM1):c.2746C>T (p.Pro916Ser)
|
|
|
NM_003803.4(MYOM1):c.274T>G (p.Tyr92Asp)
|
|
|
NM_003803.4(MYOM1):c.2750_2751del (p.Gln917fs)
|
rs1555620787
|
|
NM_003803.4(MYOM1):c.2759G>C (p.Ser920Thr)
|
rs2079839250
|
|
NM_003803.4(MYOM1):c.2770C>A (p.Pro924Thr)
|
|
|
NM_003803.4(MYOM1):c.2790_2793del (p.Asp930fs)
|
rs764298096
|
|
NM_003803.4(MYOM1):c.2794+6A>G
|
|
|
NM_003803.4(MYOM1):c.2795-3C>T
|
rs1038647698
|
|
NM_003803.4(MYOM1):c.281C>T (p.Ser94Phe)
|
|
|
NM_003803.4(MYOM1):c.2822C>T (p.Thr941Ile)
|
|
|
NM_003803.4(MYOM1):c.2839C>T (p.Arg947Cys)
|
|
|
NM_003803.4(MYOM1):c.2846C>G (p.Ser949Ter)
|
|
|
NM_003803.4(MYOM1):c.286C>G (p.His96Asp)
|
|
|
NM_003803.4(MYOM1):c.290+1G>C
|
|
|
NM_003803.4(MYOM1):c.2903A>C (p.Tyr968Ser)
|
|
|
NM_003803.4(MYOM1):c.2915A>G (p.Tyr972Cys)
|
rs2143864654
|
|
NM_003803.4(MYOM1):c.2917C>T (p.Arg973Cys)
|
|
|
NM_003803.4(MYOM1):c.2938C>T (p.Pro980Ser)
|
|
|
NM_003803.4(MYOM1):c.2946del (p.Lys982fs)
|
rs1191782014
|
|
NM_003803.4(MYOM1):c.2960A>G (p.Asn987Ser)
|
|
|
NM_003803.4(MYOM1):c.2965A>C (p.Lys989Gln)
|
rs775037346
|
|
NM_003803.4(MYOM1):c.2977G>A (p.Glu993Lys)
|
rs749399014
|
|
NM_003803.4(MYOM1):c.2991+1G>T
|
|
|
NM_003803.4(MYOM1):c.2991+4A>C
|
|
|
NM_003803.4(MYOM1):c.2999A>G (p.Asn1000Ser)
|
|
|
NM_003803.4(MYOM1):c.3000C>G (p.Asn1000Lys)
|
|
|
NM_003803.4(MYOM1):c.3012C>G (p.Asn1004Lys)
|
|
|
NM_003803.4(MYOM1):c.3014T>A (p.Met1005Lys)
|
|
|
NM_003803.4(MYOM1):c.3032T>C (p.Val1011Ala)
|
|
|
NM_003803.4(MYOM1):c.3041T>C (p.Met1014Thr)
|
|
|
NM_003803.4(MYOM1):c.3053G>C (p.Gly1018Ala)
|
|
|
NM_003803.4(MYOM1):c.3056_3060dup (p.Ala1021fs)
|
rs776378986
|
|
NM_003803.4(MYOM1):c.3064C>T (p.Pro1022Ser)
|
rs2143833136
|
|
NM_003803.4(MYOM1):c.3067T>C (p.Ser1023Pro)
|
rs2079660727
|
|
NM_003803.4(MYOM1):c.3072A>G (p.Ala1024=)
|
|
|
NM_003803.4(MYOM1):c.3074T>G (p.Val1025Gly)
|
|
|
NM_003803.4(MYOM1):c.3078C>G (p.Ser1026Arg)
|
rs984812597
|
|
NM_003803.4(MYOM1):c.3083G>A (p.Cys1028Tyr)
|
|
|
NM_003803.4(MYOM1):c.3083G>T (p.Cys1028Phe)
|
rs2079660280
|
|
NM_003803.4(MYOM1):c.3089A>C (p.Lys1030Thr)
|
|
|
NM_003803.4(MYOM1):c.3093T>A (p.Cys1031Ter)
|
rs2079660011
|
|
NM_003803.4(MYOM1):c.3097G>T (p.Glu1033Ter)
|
rs377512048
|
|
NM_003803.4(MYOM1):c.3106A>G (p.Ile1036Val)
|
rs2079659653
|
|
NM_003803.4(MYOM1):c.3112G>A (p.Val1038Ile)
|
|
|
NM_003803.4(MYOM1):c.3153G>C (p.Arg1051Ser)
|
|
|
NM_003803.4(MYOM1):c.3158A>C (p.Asp1053Ala)
|
rs200545815
|
|
NM_003803.4(MYOM1):c.3159C>G (p.Asp1053Glu)
|
|
|
NM_003803.4(MYOM1):c.315A>C (p.Leu105Phe)
|
rs991834729
|
|
NM_003803.4(MYOM1):c.3162dup (p.Leu1055fs)
|
|
|
NM_003803.4(MYOM1):c.3173A>G (p.Gln1058Arg)
|
|
|
NM_003803.4(MYOM1):c.3180G>C (p.Lys1060Asn)
|
|
|
NM_003803.4(MYOM1):c.3199C>T (p.Arg1067Trp)
|
|
|
NM_003803.4(MYOM1):c.3229T>A (p.Leu1077Met)
|
rs769859396
|
|
NM_003803.4(MYOM1):c.3262C>T (p.Arg1088Ter)
|
|
|
NM_003803.4(MYOM1):c.3263G>A (p.Arg1088Gln)
|
|
|
NM_003803.4(MYOM1):c.3268C>G (p.Leu1090Val)
|
|
|
NM_003803.4(MYOM1):c.3274G>A (p.Glu1092Lys)
|
|
|
NM_003803.4(MYOM1):c.3281C>T (p.Ala1094Val)
|
|
|
NM_003803.4(MYOM1):c.3284T>C (p.Ile1095Thr)
|
|
|
NM_003803.4(MYOM1):c.3295T>C (p.Tyr1099His)
|
|
|
NM_003803.4(MYOM1):c.3303+4del
|
rs745861417
|
|
NM_003803.4(MYOM1):c.3304-2A>G
|
|
|
NM_003803.4(MYOM1):c.3304-3C>G
|
rs2079541369
|
|
NM_003803.4(MYOM1):c.3323G>A (p.Gly1108Asp)
|
|
|
NM_003803.4(MYOM1):c.3332A>G (p.Tyr1111Cys)
|
|
|
NM_003803.4(MYOM1):c.3334G>A (p.Val1112Met)
|
|
|
NM_003803.4(MYOM1):c.3334G>T (p.Val1112Leu)
|
rs200102315
|
|
NM_003803.4(MYOM1):c.3347G>A (p.Arg1116Gln)
|
|
|
NM_003803.4(MYOM1):c.3347G>C (p.Arg1116Pro)
|
|
|
NM_003803.4(MYOM1):c.3352A>G (p.Ile1118Val)
|
rs965953541
|
|
NM_003803.4(MYOM1):c.3364G>C (p.Gly1122Arg)
|
|
|
NM_003803.4(MYOM1):c.3365G>A (p.Gly1122Glu)
|
|
|
NM_003803.4(MYOM1):c.3368T>C (p.Val1123Ala)
|
|
|
NM_003803.4(MYOM1):c.3404C>T (p.Ala1135Val)
|
|
|
NM_003803.4(MYOM1):c.3409A>T (p.Thr1137Ser)
|
rs2143800832
|
|
NM_003803.4(MYOM1):c.3410C>T (p.Thr1137Ile)
|
rs763744233
|
|
NM_003803.4(MYOM1):c.3418+6C>A
|
|
|
NM_003803.4(MYOM1):c.3428A>C (p.Glu1143Ala)
|
|
|
NM_003803.4(MYOM1):c.3430G>T (p.Val1144Phe)
|
rs1567906657
|
|
NM_003803.4(MYOM1):c.3455del (p.Gly1152fs)
|
rs2079395612
|
|
NM_003803.4(MYOM1):c.3479G>A (p.Cys1160Tyr)
|
|
|
NM_003803.4(MYOM1):c.3481G>C (p.Asp1161His)
|
rs2079394843
|
|
NM_003803.4(MYOM1):c.349A>G (p.Lys117Glu)
|
|
|
NM_003803.4(MYOM1):c.3513G>A (p.Trp1171Ter)
|
rs2079393948
|
|
NM_003803.4(MYOM1):c.3530C>T (p.Ser1177Phe)
|
rs1598671752
|
|
NM_003803.4(MYOM1):c.3539A>C (p.Asp1180Ala)
|
rs188319622
|
|
NM_003803.4(MYOM1):c.3552G>T (p.Leu1184Phe)
|
|
|
NM_003803.4(MYOM1):c.3559G>A (p.Glu1187Lys)
|
rs747613137
|
|
NM_003803.4(MYOM1):c.3562A>G (p.Ser1188Gly)
|
rs2079392310
|
|
NM_003803.4(MYOM1):c.3569G>A (p.Gly1190Asp)
|
|
|
NM_003803.4(MYOM1):c.3575+5G>A
|
rs1253220145
|
|
NM_003803.4(MYOM1):c.3575A>G (p.Lys1192Arg)
|
|
|
NM_003803.4(MYOM1):c.3580A>G (p.Lys1194Glu)
|
rs2143753722
|
|
NM_003803.4(MYOM1):c.3587C>T (p.Thr1196Ile)
|
|
|
NM_003803.4(MYOM1):c.3595G>T (p.Asp1199Tyr)
|
|
|
NM_003803.4(MYOM1):c.3610G>T (p.Asp1204Tyr)
|
|
|
NM_003803.4(MYOM1):c.3643A>G (p.Thr1215Ala)
|
|
|
NM_003803.4(MYOM1):c.365G>A (p.Ser122Asn)
|
|
|
NM_003803.4(MYOM1):c.3683A>G (p.Glu1228Gly)
|
|
|
NM_003803.4(MYOM1):c.3727+5G>A
|
|
|
NM_003803.4(MYOM1):c.3755T>C (p.Val1252Ala)
|
rs764372608
|
|
NM_003803.4(MYOM1):c.3778G>T (p.Val1260Phe)
|
|
|
NM_003803.4(MYOM1):c.3796G>A (p.Ala1266Thr)
|
rs554969785
|
|
NM_003803.4(MYOM1):c.3815A>G (p.Asn1272Ser)
|
|
|
NM_003803.4(MYOM1):c.3820A>G (p.Lys1274Glu)
|
|
|
NM_003803.4(MYOM1):c.3823del (p.Val1275fs)
|
|
|
NM_003803.4(MYOM1):c.3830A>G (p.Tyr1277Cys)
|
|
|
NM_003803.4(MYOM1):c.3832A>G (p.Ile1278Val)
|
rs2079266432
|
|
NM_003803.4(MYOM1):c.3857A>G (p.Glu1286Gly)
|
rs2143726019
|
|
NM_003803.4(MYOM1):c.3864+3A>C
|
rs766295696
|
|
NM_003803.4(MYOM1):c.3864G>A (p.Pro1288=)
|
rs753756333
|
|
NM_003803.4(MYOM1):c.3881T>C (p.Ile1294Thr)
|
|
|
NM_003803.4(MYOM1):c.3898A>G (p.Ile1300Val)
|
|
|
NM_003803.4(MYOM1):c.3935A>G (p.Asp1312Gly)
|
|
|
NM_003803.4(MYOM1):c.3944C>G (p.Thr1315Arg)
|
rs748195985
|
|
NM_003803.4(MYOM1):c.3944C>T (p.Thr1315Met)
|
rs748195985
|
|
NM_003803.4(MYOM1):c.3953dup (p.Gln1319fs)
|
|
|
NM_003803.4(MYOM1):c.395T>G (p.Leu132Trp)
|
rs1555629260
|
|
NM_003803.4(MYOM1):c.3968del (p.Gly1323fs)
|
rs1377047086
|
|
NM_003803.4(MYOM1):c.396G>T (p.Leu132Phe)
|
|
|
NM_003803.4(MYOM1):c.397C>T (p.Pro133Ser)
|
rs2080954710
|
|
NM_003803.4(MYOM1):c.3982C>A (p.His1328Asn)
|
|
|
NM_003803.4(MYOM1):c.3991G>A (p.Val1331Ile)
|
rs1486084771
|
|
NM_003803.4(MYOM1):c.3992T>C (p.Val1331Ala)
|
rs1567900049
|
|
NM_003803.4(MYOM1):c.3_4insA (p.Ser2fs)
|
|
|
NM_003803.4(MYOM1):c.4004G>A (p.Gly1335Glu)
|
|
|
NM_003803.4(MYOM1):c.4009+1G>A
|
|
|
NM_003803.4(MYOM1):c.400A>G (p.Ser134Gly)
|
rs1567961770
|
|
NM_003803.4(MYOM1):c.4010-1G>A
|
rs2143706018
|
|
NM_003803.4(MYOM1):c.4010-8A>G
|
|
|
NM_003803.4(MYOM1):c.4070-1G>C
|
|
|
NM_003803.4(MYOM1):c.409A>G (p.Met137Val)
|
|
|
NM_003803.4(MYOM1):c.4106C>T (p.Thr1369Ile)
|
|
|
NM_003803.4(MYOM1):c.4114T>G (p.Cys1372Gly)
|
rs765299084
|
|
NM_003803.4(MYOM1):c.4124T>C (p.Leu1375Pro)
|
rs2143704467
|
|
NM_003803.4(MYOM1):c.4137+5G>C
|
|
|
NM_003803.4(MYOM1):c.4163A>T (p.His1388Leu)
|
|
|
NM_003803.4(MYOM1):c.4166T>A (p.Ile1389Asn)
|
|
|
NM_003803.4(MYOM1):c.4175A>G (p.Tyr1392Cys)
|
rs2079150468
|
|
NM_003803.4(MYOM1):c.4192A>C (p.Ile1398Leu)
|
rs377324484
|
|
NM_003803.4(MYOM1):c.4207A>C (p.Lys1403Gln)
|
rs779356078
|
|
NM_003803.4(MYOM1):c.4208A>G (p.Lys1403Arg)
|
|
|
NM_003803.4(MYOM1):c.4213G>A (p.Asp1405Asn)
|
|
|
NM_003803.4(MYOM1):c.4231T>C (p.Cys1411Arg)
|
|
|
NM_003803.4(MYOM1):c.4251+6C>T
|
|
|
NM_003803.4(MYOM1):c.4255T>C (p.Ser1419Pro)
|
|
|
NM_003803.4(MYOM1):c.4261A>G (p.Lys1421Glu)
|
rs2143688119
|
|
NM_003803.4(MYOM1):c.4295A>G (p.Asp1432Gly)
|
|
|
NM_003803.4(MYOM1):c.42_62dup (p.Asp21_Val22insLeuSerTyrArgAsnLysAsp)
|
|
|
NM_003803.4(MYOM1):c.432-2A>G
|
|
|
NM_003803.4(MYOM1):c.4322T>C (p.Leu1441Pro)
|
|
|
NM_003803.4(MYOM1):c.4326del (p.Lys1442fs)
|
|
|
NM_003803.4(MYOM1):c.4327C>T (p.Leu1443Phe)
|
|
|
NM_003803.4(MYOM1):c.4333G>A (p.Asp1445Asn)
|
|
|
NM_003803.4(MYOM1):c.4346dup (p.Glu1450fs)
|
rs2143684013
|
|
NM_003803.4(MYOM1):c.4361_4362del (p.Glu1454fs)
|
|
|
NM_003803.4(MYOM1):c.4362A>G (p.Glu1454=)
|
|
|
NM_003803.4(MYOM1):c.4379C>G (p.Ala1460Gly)
|
|
|
NM_003803.4(MYOM1):c.43C>T (p.Leu15Phe)
|
|
|
NM_003803.4(MYOM1):c.43_169dup (p.Glu57fs)
|
rs2081245746
|
|
NM_003803.4(MYOM1):c.4415C>G (p.Ala1472Gly)
|
rs2143683130
|
|
NM_003803.4(MYOM1):c.4417G>A (p.Glu1473Lys)
|
|
|
NM_003803.4(MYOM1):c.4421G>A (p.Gly1474Asp)
|
|
|
NM_003803.4(MYOM1):c.442G>A (p.Val148Ile)
|
|
|
NM_003803.4(MYOM1):c.4450T>C (p.Tyr1484His)
|
|
|
NM_003803.4(MYOM1):c.4453G>A (p.Val1485Met)
|
|
|
NM_003803.4(MYOM1):c.4466A>G (p.Lys1489Arg)
|
|
|
NM_003803.4(MYOM1):c.4481A>G (p.His1494Arg)
|
|
|
NM_003803.4(MYOM1):c.4484+1G>A
|
|
|
NM_003803.4(MYOM1):c.4484+3A>C
|
|
|
NM_003803.4(MYOM1):c.4492G>A (p.Ala1498Thr)
|
|
|
NM_003803.4(MYOM1):c.4509_4512del (p.Asp1503fs)
|
rs1473638124
|
|
NM_003803.4(MYOM1):c.4522G>A (p.Gly1508Arg)
|
|
|
NM_003803.4(MYOM1):c.4558G>A (p.Glu1520Lys)
|
|
|
NM_003803.4(MYOM1):c.4570A>G (p.Asn1524Asp)
|
|
|
NM_003803.4(MYOM1):c.4573G>A (p.Asp1525Asn)
|
rs2079056471
|
|
NM_003803.4(MYOM1):c.457G>C (p.Asp153His)
|
rs2144151532
|
|
NM_003803.4(MYOM1):c.4607G>A (p.Gly1536Asp)
|
|
|
NM_003803.4(MYOM1):c.4621C>T (p.Gln1541Ter)
|
|
|
NM_003803.4(MYOM1):c.4630G>A (p.Val1544Met)
|
rs2143660426
|
|
NM_003803.4(MYOM1):c.4630del (p.Val1544fs)
|
rs781638129
|
|
NM_003803.4(MYOM1):c.4633G>C (p.Asp1545His)
|
rs780950239
|
|
NM_003803.4(MYOM1):c.4647A>G (p.Gln1549=)
|
|
|
NM_003803.4(MYOM1):c.4648+3A>G
|
rs2143660291
|
|
NM_003803.4(MYOM1):c.4649-20_4649-19delinsGG
|
|
|
NM_003803.4(MYOM1):c.4649C>T (p.Ala1550Val)
|
rs775657868
|
|
NM_003803.4(MYOM1):c.4657G>A (p.Glu1553Lys)
|
rs1261394354
|
|
NM_003803.4(MYOM1):c.4670A>T (p.Glu1557Val)
|
rs1598646701
|
|
NM_003803.4(MYOM1):c.4685+3_4685+6del
|
rs758870863
|
|
NM_003803.4(MYOM1):c.468A>T (p.Glu156Asp)
|
|
|
NM_003803.4(MYOM1):c.4708+5_4708+8del
|
rs1176683166
|
|
NM_003803.4(MYOM1):c.4718G>C (p.Arg1573Pro)
|
rs117342470
|
|
NM_003803.4(MYOM1):c.4720G>A (p.Val1574Met)
|
rs1408010275
|
|
NM_003803.4(MYOM1):c.4720G>C (p.Val1574Leu)
|
rs1408010275
|
|
NM_003803.4(MYOM1):c.473G>T (p.Arg158Ile)
|
rs748886234
|
|
NM_003803.4(MYOM1):c.4750A>G (p.Ile1584Val)
|
|
|
NM_003803.4(MYOM1):c.4752C>G (p.Ile1584Met)
|
rs1290988538
|
|
NM_003803.4(MYOM1):c.4765-12C>G
|
|
|
NM_003803.4(MYOM1):c.4765-13A>G
|
|
|
NM_003803.4(MYOM1):c.4772A>G (p.Asn1591Ser)
|
|
|
NM_003803.4(MYOM1):c.4801C>T (p.Pro1601Ser)
|
rs765962328
|
|
NM_003803.4(MYOM1):c.4805C>T (p.Pro1602Leu)
|
|
|
NM_003803.4(MYOM1):c.4807G>A (p.Glu1603Lys)
|
rs2143602854
|
|
NM_003803.4(MYOM1):c.4820T>C (p.Leu1607Ser)
|
|
|
NM_003803.4(MYOM1):c.4826A>G (p.Asn1609Ser)
|
|
|
NM_003803.4(MYOM1):c.4849G>A (p.Asp1617Asn)
|
|
|
NM_003803.4(MYOM1):c.4883C>T (p.Thr1628Ile)
|
rs2078909787
|
|
NM_003803.4(MYOM1):c.4885G>T (p.Ala1629Ser)
|
rs763189783
|
|
NM_003803.4(MYOM1):c.4886_4887dup (p.Tyr1630fs)
|
rs2078909692
|
|
NM_003803.4(MYOM1):c.4906G>A (p.Val1636Met)
|
rs773263720
|
|
NM_003803.4(MYOM1):c.4909A>T (p.Ser1637Cys)
|
|
|
NM_003803.4(MYOM1):c.4916C>T (p.Ala1639Val)
|
|
|
NM_003803.4(MYOM1):c.4920C>G (p.Asp1640Glu)
|
|
|
NM_003803.4(MYOM1):c.4922C>G (p.Ser1641Trp)
|
|
|
NM_003803.4(MYOM1):c.4922C>T (p.Ser1641Leu)
|
|
|
NM_003803.4(MYOM1):c.5002G>A (p.Glu1668Lys)
|
rs2078907224
|
|
NM_003803.4(MYOM1):c.5018C>T (p.Ala1673Val)
|
|
|
NM_003803.4(MYOM1):c.5038G>C (p.Gly1680Arg)
|
|
|
NM_003803.4(MYOM1):c.5039_5040inv (p.Gly1680Asp)
|
|
|
NM_003803.4(MYOM1):c.5040_5041inv (p.Gly1681Ser)
|
|
|
NM_003803.4(MYOM1):c.5055_5056insA (p.Ter1686MetextTer?)
|
|
|
NM_003803.4(MYOM1):c.508A>T (p.Asn170Tyr)
|
|
|
NM_003803.4(MYOM1):c.535A>G (p.Thr179Ala)
|
rs2144151014
|
|
NM_003803.4(MYOM1):c.544A>C (p.Lys182Gln)
|
rs1567958675
|
|
NM_003803.4(MYOM1):c.548A>G (p.Gln183Arg)
|
rs1032691291
|
|
NM_003803.4(MYOM1):c.563A>G (p.Lys188Arg)
|
|
|
NM_003803.4(MYOM1):c.566A>G (p.Gln189Arg)
|
rs373424159
|
|
NM_003803.4(MYOM1):c.568A>T (p.Thr190Ser)
|
|
|
NM_003803.4(MYOM1):c.568_603dup (p.Thr190_Gln201dup)
|
rs745347160
|
|
NM_003803.4(MYOM1):c.568_621del (p.Thr190_Gln207del)
|
rs2080863497
|
|
NM_003803.4(MYOM1):c.579_614del (p.194KQSTAS[1])
|
|
|
NM_003803.4(MYOM1):c.579_632del (p.Lys194_Ser211del)
|
rs2080863291
|
|
NM_003803.4(MYOM1):c.591_608del (p.194KQSTAS[2])
|
|
|
NM_003803.4(MYOM1):c.599_634del (p.194KQSTAS[1])
|
rs777649711
|
|
NM_003803.4(MYOM1):c.599_634dup (p.Ser211_Arg212insLysGlnSerThrAlaSerLysGlnSerThrAlaSer)
|
|
|
NM_003803.4(MYOM1):c.609_626del (p.194KQSTAS[2])
|
rs1211124611
|
|
NM_003803.4(MYOM1):c.60G>C (p.Lys20Asn)
|
|
|
NM_003803.4(MYOM1):c.611C>A (p.Ala204Glu)
|
rs375742037
|
|
NM_003803.4(MYOM1):c.617_634dup (p.194KQSTAS[4])
|
rs755975362
|
|
NM_003803.4(MYOM1):c.620A>G (p.Gln207Arg)
|
rs1044246355
|
|
NM_003803.4(MYOM1):c.624CACGGCATCCAGGCAGTC[1] (p.209TASRQS[1])
|
rs754986396
|
|
NM_003803.4(MYOM1):c.624CACGGCATCCAGGCAGTC[3] (p.209TASRQS[3])
|
rs754986396
|
|
NM_003803.4(MYOM1):c.635G>C (p.Arg212Thr)
|
rs200770047
|
|
NM_003803.4(MYOM1):c.637C>T (p.Gln213Ter)
|
|
|
NM_003803.4(MYOM1):c.639G>C (p.Gln213His)
|
rs2080862895
|
|
NM_003803.4(MYOM1):c.643_660del (p.209TASRQS[1])
|
rs2080862040
|
|
NM_003803.4(MYOM1):c.644_645insAGCATCCAAGCAGTCCACGGCATCCAGGCAGTCCACAGCATCCAAGCAGTCCACAGCATCCAAGCAGTCCACGGCATCCAAGCAGTCCACAGCATCCAAGCAGTCCACGGCATCCAGGCAGTCCAT (p.Ser217_Arg218insLysGlnSerThrAlaSerArgGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerLysGlnSerThrAlaSerArgGlnSerMetAlaSer)
|
|
|
NM_003803.4(MYOM1):c.64G>A (p.Val22Met)
|
rs1791085
|
|
NM_003803.4(MYOM1):c.64G>T (p.Val22Leu)
|
rs1791085
|
|
NM_003803.4(MYOM1):c.64_65insACCGCAACAAGGACC (p.Val22delinsAspArgAsnLysAspLeu)
|
|
|
NM_003803.4(MYOM1):c.64_65insATCTCAGCTACCGCAACAAGGACC (p.Val22delinsAspLeuSerTyrArgAsnLysAspLeu)
|
rs752587435
|
|
NM_003803.4(MYOM1):c.64_66delinsCCC (p.Val22Pro)
|
rs386800438
|
|
NM_003803.4(MYOM1):c.677C>A (p.Ala226Asp)
|
|
|
NM_003803.4(MYOM1):c.685G>T (p.Ala229Ser)
|
|
|
NM_003803.4(MYOM1):c.697G>A (p.Glu233Lys)
|
|
|
NM_003803.4(MYOM1):c.712AAG[1] (p.Lys239del)
|
rs2080860533
|
|
NM_003803.4(MYOM1):c.730G>C (p.Val244Leu)
|
|
|
NM_003803.4(MYOM1):c.737G>A (p.Arg246Gln)
|
|
|
NM_003803.4(MYOM1):c.751C>T (p.Arg251Cys)
|
rs992528328
|
|
NM_003803.4(MYOM1):c.75C>G (p.Thr25=)
|
rs763316478
|
|
NM_003803.4(MYOM1):c.767A>G (p.Lys256Arg)
|
|
|
NM_003803.4(MYOM1):c.770_771del (p.Thr257fs)
|
rs1598754120
|
|
NM_003803.4(MYOM1):c.771+6A>G
|
|
|
NM_003803.4(MYOM1):c.793C>T (p.His265Tyr)
|
|
|
NM_003803.4(MYOM1):c.806A>G (p.Asn269Ser)
|
rs1304345327
|
|
NM_003803.4(MYOM1):c.814C>T (p.His272Tyr)
|
rs1555628272
|
|
NM_003803.4(MYOM1):c.836T>C (p.Phe279Ser)
|
rs2144142432
|
|
NM_003803.4(MYOM1):c.847C>T (p.Pro283Ser)
|
rs2080835710
|
|
NM_003803.4(MYOM1):c.850C>G (p.Arg284Gly)
|
rs1001422774
|
|
NM_003803.4(MYOM1):c.851G>A (p.Arg284His)
|
|
|
NM_003803.4(MYOM1):c.853T>C (p.Ser285Pro)
|
|
|
NM_003803.4(MYOM1):c.861G>A (p.Thr287=)
|
|
|
NM_003803.4(MYOM1):c.878A>G (p.Asn293Ser)
|
rs2144142229
|
|
NM_003803.4(MYOM1):c.881dup (p.Leu296fs)
|
rs2080834815
|
|
NM_003803.4(MYOM1):c.907T>G (p.Trp303Gly)
|
rs775851893
|
|
NM_003803.4(MYOM1):c.91C>T (p.Arg31Trp)
|
|
|
NM_003803.4(MYOM1):c.926dup (p.Trp310fs)
|
|
|
NM_003803.4(MYOM1):c.928T>A (p.Trp310Arg)
|
rs1567957308
|
|
NM_003803.4(MYOM1):c.929+3A>G
|
|
|
NM_003803.4(MYOM1):c.970G>C (p.Gly324Arg)
|
|
|
NM_003803.4(MYOM1):c.980T>C (p.Ile327Thr)
|
rs1598744290
|
|
NM_003803.4(MYOM1):c.991C>T (p.Arg331Ter)
|
|
|