ClinVar Miner

List of variants in gene MYOM1 reported as uncertain significance for Hypertrophic cardiomyopathy

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Gene type:
ClinVar version:
Total variants: 728
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HGVS dbSNP gnomAD frequency
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)

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