ClinVar Miner

List of variants in gene MYH11 reported as uncertain significance for Familial thoracic aortic aneurysm and aortic dissection

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Gene type:
ClinVar version:
Total variants: 537
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156 0.00068
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002474.3(MYH11):c.3858+480A>G rs886051758 0.00033
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) rs111677442 0.00021
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.1749+4C>G rs776271431 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu) rs757270167 0.00011
NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg) rs147848256 0.00011
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met) rs201391947 0.00011
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001 0.00011
NM_002474.3(MYH11):c.3293+5C>T rs766421052 0.00008
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val) rs547038802 0.00008
NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn) rs754374723 0.00007
NM_002474.3(MYH11):c.1301G>A (p.Arg434His) rs754636432 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) rs373358736 0.00006
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr) rs140479999 0.00006
NM_002474.3(MYH11):c.3603C>G (p.His1201Gln) rs199800922 0.00006
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys) rs369196744 0.00005
NM_002474.3(MYH11):c.3722G>A (p.Arg1241Gln) rs749705160 0.00005
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr) rs745516001 0.00004
NM_002474.3(MYH11):c.2068C>G (p.Leu690Val) rs775964675 0.00004
NM_002474.3(MYH11):c.2435A>G (p.Gln812Arg) rs761891932 0.00004
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val) rs373789068 0.00004
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp) rs939496859 0.00004
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser) rs906679954 0.00004
NM_002474.3(MYH11):c.292G>A (p.Glu98Lys) rs773587055 0.00004
NM_002474.3(MYH11):c.301G>A (p.Val101Met) rs375159635 0.00004
NM_002474.3(MYH11):c.3030C>G (p.Asp1010Glu) rs374785690 0.00004
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val) rs371205331 0.00004
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) rs552818350 0.00004
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) rs746615097 0.00004
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp) rs142227497 0.00004
NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser) rs767533401 0.00004
NM_002474.3(MYH11):c.769G>A (p.Val257Met) rs112992497 0.00004
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser) rs149964928 0.00004
NM_002474.3(MYH11):c.-17-13C>T rs545560860 0.00003
NM_002474.3(MYH11):c.1018G>A (p.Glu340Lys) rs145768331 0.00003
NM_002474.3(MYH11):c.101G>C (p.Arg34Thr) rs199654191 0.00003
NM_002474.3(MYH11):c.1904C>T (p.Thr635Met) rs745878375 0.00003
NM_002474.3(MYH11):c.2000C>T (p.Thr667Met) rs750066715 0.00003
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile) rs756408490 0.00003
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly) rs778651094 0.00003
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys) rs201387564 0.00003
NM_002474.3(MYH11):c.2807A>T (p.Asp936Val) rs1341541765 0.00003
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp) rs763514919 0.00003
NM_002474.3(MYH11):c.2960T>C (p.Ile987Thr) rs770004584 0.00003
NM_002474.3(MYH11):c.3035C>T (p.Thr1012Met) rs373881911 0.00003
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr) rs557463209 0.00003
NM_002474.3(MYH11):c.3433G>A (p.Gly1145Ser) rs761657319 0.00003
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn) rs770319821 0.00003
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val) rs1023178766 0.00003
NM_002474.3(MYH11):c.503-12T>A rs757533996 0.00003
NM_002474.3(MYH11):c.53A>G (p.Lys18Arg) rs756777282 0.00003
NM_002474.3(MYH11):c.758C>T (p.Thr253Met) rs745787304 0.00003
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) rs765295579 0.00003
NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr) rs794728675 0.00002
NM_002474.3(MYH11):c.1178C>T (p.Thr393Ile) rs750691973 0.00002
NM_002474.3(MYH11):c.1300C>T (p.Arg434Cys) rs375276152 0.00002
NM_002474.3(MYH11):c.1749+3A>G rs762212339 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg) rs777426396 0.00002
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser) rs760793367 0.00002
NM_002474.3(MYH11):c.2139G>C (p.Gln713His) rs779897931 0.00002
NM_002474.3(MYH11):c.2198C>T (p.Ala733Val) rs776356937 0.00002
NM_002474.3(MYH11):c.2443G>A (p.Ala815Thr) rs774279707 0.00002
NM_002474.3(MYH11):c.2599C>T (p.Arg867Trp) rs745429737 0.00002
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) rs771297865 0.00002
NM_002474.3(MYH11):c.3149G>A (p.Arg1050Gln) rs367605434 0.00002
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr) rs759155353 0.00002
NM_002474.3(MYH11):c.3262A>G (p.Lys1088Glu) rs375643160 0.00002
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) rs534384552 0.00002
NM_002474.3(MYH11):c.3326C>A (p.Ala1109Asp) rs1046453819 0.00002
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) rs202004234 0.00002
NM_002474.3(MYH11):c.415G>A (p.Val139Ile) rs745609580 0.00002
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp) rs759409339 0.00002
NM_002474.3(MYH11):c.506G>A (p.Arg169Gln) rs539539812 0.00002
NM_002474.3(MYH11):c.5C>T (p.Ala2Val) rs150600829 0.00002
NM_002474.3(MYH11):c.632C>T (p.Thr211Met) rs557865832 0.00002
NM_002474.3(MYH11):c.988G>A (p.Val330Met) rs368938309 0.00002
NM_002474.3(MYH11):c.-12C>T rs763118586 0.00001
NM_002474.3(MYH11):c.-13C>A rs767404390 0.00001
NM_002474.3(MYH11):c.-15G>T rs1471321087 0.00001
NM_002474.3(MYH11):c.1003A>G (p.Ile335Val) rs1258616305 0.00001
NM_002474.3(MYH11):c.1009G>A (p.Gly337Ser) rs1393758073 0.00001
NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu) rs147496115 0.00001
NM_002474.3(MYH11):c.1065G>C (p.Gln355His) rs2041923210 0.00001
NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly) rs1174407076 0.00001
NM_002474.3(MYH11):c.1124A>G (p.Asn375Ser) rs1344686228 0.00001
NM_002474.3(MYH11):c.1129+4C>T rs748467983 0.00001
NM_002474.3(MYH11):c.1132G>A (p.Ala378Thr) rs943768534 0.00001
NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys) rs767021608 0.00001
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu) rs775927183 0.00001
NM_002474.3(MYH11):c.1249-4dup rs748020048 0.00001
NM_002474.3(MYH11):c.1316G>A (p.Arg439His) rs372247345 0.00001
NM_002474.3(MYH11):c.133T>G (p.Phe45Val) rs746419144 0.00001
NM_002474.3(MYH11):c.1355C>T (p.Ala452Val) rs1291260053 0.00001
NM_002474.3(MYH11):c.1402-12C>G rs769036516 0.00001
NM_002474.3(MYH11):c.1513G>A (p.Glu505Lys) rs747217502 0.00001
NM_002474.3(MYH11):c.1529A>C (p.Asp510Ala) rs1443735566 0.00001
NM_002474.3(MYH11):c.152A>T (p.Lys51Met) rs748791569 0.00001
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu) rs750288554 0.00001
NM_002474.3(MYH11):c.1575+3G>A rs377632137 0.00001
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg) rs1015353331 0.00001
NM_002474.3(MYH11):c.1666G>A (p.Glu556Lys) rs758166424 0.00001
NM_002474.3(MYH11):c.1712A>T (p.Asp571Val) rs2041716956 0.00001
NM_002474.3(MYH11):c.1787T>C (p.Met596Thr) rs1338996385 0.00001
NM_002474.3(MYH11):c.1807G>A (p.Val603Met) rs747024997 0.00001
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser) rs750642581 0.00001
NM_002474.3(MYH11):c.1834G>A (p.Asp612Asn) rs1267918882 0.00001
NM_002474.3(MYH11):c.1847C>G (p.Ala616Gly) rs140688587 0.00001
NM_002474.3(MYH11):c.1924G>A (p.Ala642Thr) rs371750065 0.00001
NM_002474.3(MYH11):c.1981C>G (p.Leu661Val) rs1267658886 0.00001
NM_002474.3(MYH11):c.1990C>G (p.Leu664Val) rs762549707 0.00001
NM_002474.3(MYH11):c.1993A>G (p.Met665Val) rs2041529040 0.00001
NM_002474.3(MYH11):c.2015C>T (p.Thr672Met) rs749498320 0.00001
NM_002474.3(MYH11):c.2058+10G>A rs757874059 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln) rs376758800 0.00001
NM_002474.3(MYH11):c.209C>T (p.Thr70Met) rs1222746393 0.00001
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp) rs1275950124 0.00001
NM_002474.3(MYH11):c.2173C>T (p.Arg725Cys) rs373251357 0.00001
NM_002474.3(MYH11):c.2179C>T (p.Arg727Cys) rs1401359617 0.00001
NM_002474.3(MYH11):c.2185G>A (p.Glu729Lys) rs1460761362 0.00001
NM_002474.3(MYH11):c.2195C>T (p.Ala732Val) rs764831521 0.00001
NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr) rs944017240 0.00001
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) rs1050298581 0.00001
NM_002474.3(MYH11):c.2302A>G (p.Ile768Val) rs779331046 0.00001
NM_002474.3(MYH11):c.2329C>A (p.His777Asn) rs767136120 0.00001
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln) rs200835799 0.00001
NM_002474.3(MYH11):c.2371A>G (p.Met791Val) rs780266654 0.00001
NM_002474.3(MYH11):c.2393G>A (p.Arg798His) rs757602048 0.00001
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys) rs534802983 0.00001
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln) rs773993037 0.00001
NM_002474.3(MYH11):c.2735G>A (p.Arg912Gln) rs768392407 0.00001
NM_002474.3(MYH11):c.2788C>T (p.Arg930Cys) rs755324860 0.00001
NM_002474.3(MYH11):c.2789G>A (p.Arg930His) rs1025259076 0.00001
NM_002474.3(MYH11):c.2812G>A (p.Gly938Ser) rs1227980651 0.00001
NM_002474.3(MYH11):c.281C>T (p.Thr94Met) rs794728681 0.00001
NM_002474.3(MYH11):c.2855T>C (p.Met952Thr) rs372275868 0.00001
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val) rs145121051 0.00001
NM_002474.3(MYH11):c.3002G>A (p.Arg1001Gln) rs376622843 0.00001
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp) rs774490005 0.00001
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg) rs1555557294 0.00001
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr) rs193922629 0.00001
NM_002474.3(MYH11):c.3286C>A (p.Leu1096Met) rs886039079 0.00001
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp) rs779019646 0.00001
NM_002474.3(MYH11):c.3391C>T (p.Arg1131Trp) rs778315061 0.00001
NM_002474.3(MYH11):c.3397G>A (p.Ala1133Thr) rs148731225 0.00001
NM_002474.3(MYH11):c.3409G>T (p.Ala1137Ser) rs761268562 0.00001
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn) rs746943696 0.00001
NM_002474.3(MYH11):c.347C>T (p.Thr116Met) rs1220795088 0.00001
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys) rs371831822 0.00001
NM_002474.3(MYH11):c.3683C>T (p.Thr1228Met) rs755810220 0.00001
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg) rs558332944 0.00001
NM_002474.3(MYH11):c.3719T>G (p.Leu1240Arg) rs111318460 0.00001
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp) rs771515309 0.00001
NM_002474.3(MYH11):c.3754C>T (p.His1252Tyr) rs1006269156 0.00001
NM_002474.3(MYH11):c.3756T>G (p.His1252Gln) rs1390595486 0.00001
NM_002474.3(MYH11):c.3765G>T (p.Lys1255Asn) rs1596738517 0.00001
NM_002474.3(MYH11):c.3788A>G (p.Glu1263Gly) rs759729702 0.00001
NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile) rs763285173 0.00001
NM_002474.3(MYH11):c.412A>T (p.Ile138Phe) rs886039133 0.00001
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn) rs1085307699 0.00001
NM_002474.3(MYH11):c.452C>T (p.Pro151Leu) rs750723134 0.00001
NM_002474.3(MYH11):c.479C>T (p.Thr160Met) rs794728671 0.00001
NM_002474.3(MYH11):c.488G>A (p.Arg163Gln) rs1060500729 0.00001
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr) rs777372840 0.00001
NM_002474.3(MYH11):c.685G>A (p.Gly229Ser) rs1242871546 0.00001
NM_002474.3(MYH11):c.709G>A (p.Asp237Asn) rs1390176909 0.00001
NM_002474.3(MYH11):c.727-8G>A rs1211905522 0.00001
NM_002474.3(MYH11):c.757A>G (p.Thr253Ala) rs1596822713 0.00001
NM_002474.3(MYH11):c.98A>G (p.Lys33Arg) rs2043954401 0.00001
NM_001040113.2(MYH11):c.644C>G (p.Ser215Cys) rs2042428776
NM_001040113.2(MYH11):c.644C>T (p.Ser215Phe)
NM_001040113.2(MYH11):c.654+1G>A rs770424951
NM_002474.3(MYH11):c.-12C>A rs763118586
NM_002474.3(MYH11):c.-14A>T rs1555459265
NM_002474.3(MYH11):c.-6G>A rs2151381651
NM_002474.3(MYH11):c.1030C>A (p.Leu344Ile) rs2042101661
NM_002474.3(MYH11):c.1034-15C>G rs2041924862
NM_002474.3(MYH11):c.1038A>G (p.Ile346Met) rs2041924270
NM_002474.3(MYH11):c.1040T>G (p.Leu347Trp)
NM_002474.3(MYH11):c.1045G>A (p.Val349Met) rs1414623292
NM_002474.3(MYH11):c.1057G>T (p.Val353Phe)
NM_002474.3(MYH11):c.1065G>T (p.Gln355His)
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.106G>A (p.Val36Ile) rs959014769
NM_002474.3(MYH11):c.1084A>G (p.Lys362Glu) rs770277568
NM_002474.3(MYH11):c.1099A>G (p.Thr367Ala)
NM_002474.3(MYH11):c.1109C>T (p.Ala370Val)
NM_002474.3(MYH11):c.1114A>G (p.Met372Val) rs2041921713
NM_002474.3(MYH11):c.1128A>C (p.Thr376=) rs2041921276
NM_002474.3(MYH11):c.1132G>T (p.Ala378Ser) rs943768534
NM_002474.3(MYH11):c.1147C>T (p.His383Tyr) rs2041847191
NM_002474.3(MYH11):c.115C>A (p.Pro39Thr) rs761131497
NM_002474.3(MYH11):c.115C>G (p.Pro39Ala)
NM_002474.3(MYH11):c.1198C>T (p.Arg400Cys) rs1179634554
NM_002474.3(MYH11):c.1199G>A (p.Arg400His) rs767036635
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) rs773998062
NM_002474.3(MYH11):c.1207G>T (p.Val403Phe) rs748924540
NM_002474.3(MYH11):c.121G>A (p.Glu41Lys)
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala) rs886038993
NM_002474.3(MYH11):c.1221_1223delinsTGG (p.Val408Gly) rs2151278572
NM_002474.3(MYH11):c.1222G>T (p.Val408Leu) rs2041845331
NM_002474.3(MYH11):c.1226A>C (p.Gln409Pro)
NM_002474.3(MYH11):c.1249-11delinsCCCCTGGTTC rs2151277364
NM_002474.3(MYH11):c.1249-15G>T rs886051765
NM_002474.3(MYH11):c.1262T>G (p.Val421Gly) rs777822332
NM_002474.3(MYH11):c.1285T>C (p.Tyr429His) rs1567736079
NM_002474.3(MYH11):c.1315C>T (p.Arg439Cys) rs1567736003
NM_002474.3(MYH11):c.1318G>A (p.Val440Met) rs886038900
NM_002474.3(MYH11):c.1323C>A (p.Asn441Lys) rs1159394998
NM_002474.3(MYH11):c.1342del (p.His448fs) rs2151277173
NM_002474.3(MYH11):c.1345C>T (p.Arg449Trp)
NM_002474.3(MYH11):c.1346G>A (p.Arg449Gln) rs775520228
NM_002474.3(MYH11):c.1354G>A (p.Ala452Thr) rs749264459
NM_002474.3(MYH11):c.139G>T (p.Ala47Ser)
NM_002474.3(MYH11):c.1402-5C>G rs372223335
NM_002474.3(MYH11):c.1402-8G>C rs529694413
NM_002474.3(MYH11):c.1414G>C (p.Glu472Gln)
NM_002474.3(MYH11):c.142G>T (p.Ala48Ser) rs2151381454
NM_002474.3(MYH11):c.1468_1470delinsT (p.Thr490fs)
NM_002474.3(MYH11):c.1493_1494del (p.Glu498fs)
NM_002474.3(MYH11):c.151A>G (p.Lys51Glu) rs2043951986
NM_002474.3(MYH11):c.1525A>G (p.Ile509Val) rs1239094357
NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn) rs112553563
NM_002474.3(MYH11):c.154G>C (p.Glu52Gln)
NM_002474.3(MYH11):c.1553G>A (p.Cys518Tyr) rs1308058516
NM_002474.3(MYH11):c.1559A>C (p.Glu520Ala) rs2041770602
NM_002474.3(MYH11):c.155A>G (p.Glu52Gly) rs1567211756
NM_002474.3(MYH11):c.1570C>T (p.Arg524Ter) rs2151274829
NM_002474.3(MYH11):c.1575+4A>G rs2041769763
NM_002474.3(MYH11):c.1575G>A (p.Pro525=)
NM_002474.3(MYH11):c.1613A>G (p.Glu538Gly) rs1421397442
NM_002474.3(MYH11):c.1628A>G (p.Lys543Arg) rs2151272970
NM_002474.3(MYH11):c.1664C>T (p.Thr555Met) rs2041718828
NM_002474.3(MYH11):c.1671G>C (p.Gln557His)
NM_002474.3(MYH11):c.167del (p.Asp56fs) rs2151381426
NM_002474.3(MYH11):c.168T>G (p.Asp56Glu)
NM_002474.3(MYH11):c.1701G>C (p.Lys567Asn) rs1415327075
NM_002474.3(MYH11):c.1714A>G (p.Lys572Glu)
NM_002474.3(MYH11):c.1750G>A (p.Val584Met)
NM_002474.3(MYH11):c.1763C>T (p.Ala588Val) rs794728667
NM_002474.3(MYH11):c.1775T>G (p.Leu592Arg) rs2151269020
NM_002474.3(MYH11):c.1793C>T (p.Pro598Leu)
NM_002474.3(MYH11):c.181G>C (p.Glu61Gln) rs2043950817
NM_002474.3(MYH11):c.1822A>G (p.Asn608Asp) rs758759408
NM_002474.3(MYH11):c.1864+6G>A rs1567729627
NM_002474.3(MYH11):c.1864G>A (p.Val622Met)
NM_002474.3(MYH11):c.1868A>G (p.Asp623Gly) rs751232816
NM_002474.3(MYH11):c.188T>C (p.Val63Ala) rs2043950389
NM_002474.3(MYH11):c.1897A>C (p.Lys633Gln) rs772309087
NM_002474.3(MYH11):c.1898A>G (p.Lys633Arg)
NM_002474.3(MYH11):c.1908G>C (p.Glu636Asp) rs1312174913
NM_002474.3(MYH11):c.190G>C (p.Glu64Gln) rs886038997
NM_002474.3(MYH11):c.1922G>A (p.Ser641Asn) rs2041531591
NM_002474.3(MYH11):c.1924G>C (p.Ala642Pro) rs371750065
NM_002474.3(MYH11):c.1952G>A (p.Arg651His)
NM_002474.3(MYH11):c.1965G>T (p.Gln655His) rs2041530068
NM_002474.3(MYH11):c.2006G>A (p.Arg669His)
NM_002474.3(MYH11):c.202A>G (p.Lys68Glu) rs201872782
NM_002474.3(MYH11):c.2030G>A (p.Arg677His) rs1478913138
NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser) rs886051763
NM_002474.3(MYH11):c.204G>C (p.Lys68Asn) rs111777997
NM_002474.3(MYH11):c.2059-1G>A
NM_002474.3(MYH11):c.2062G>C (p.Gly688Arg)
NM_002474.3(MYH11):c.2063G>A (p.Gly688Asp)
NM_002474.3(MYH11):c.2063G>C (p.Gly688Ala)
NM_002474.3(MYH11):c.2147C>A (p.Pro716His) rs1596774009
NM_002474.3(MYH11):c.2153G>A (p.Arg718Gln) rs1286713310
NM_002474.3(MYH11):c.2174G>A (p.Arg725His)
NM_002474.3(MYH11):c.2180+2T>C rs2041467979
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu) rs764831521
NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr) rs1393414333
NM_002474.3(MYH11):c.2213A>C (p.Lys738Thr) rs1555560379
NM_002474.3(MYH11):c.2216G>C (p.Gly739Ala) rs771806682
NM_002474.3(MYH11):c.2216G>T (p.Gly739Val) rs771806682
NM_002474.3(MYH11):c.2226C>A (p.Asp742Glu)
NM_002474.3(MYH11):c.2227G>A (p.Gly743Arg)
NM_002474.3(MYH11):c.2251A>C (p.Ile751Leu)
NM_002474.3(MYH11):c.2254A>G (p.Lys752Glu) rs2041457179
NM_002474.3(MYH11):c.2263G>C (p.Glu755Gln)
NM_002474.3(MYH11):c.2266C>T (p.Leu756Phe)
NM_002474.3(MYH11):c.2279T>C (p.Leu760Ser) rs2041456567
NM_002474.3(MYH11):c.2281T>C (p.Tyr761His) rs935729628
NM_002474.3(MYH11):c.2289A>G (p.Ile763Met) rs912543441
NM_002474.3(MYH11):c.229C>T (p.Gln77Ter) rs1567211625
NM_002474.3(MYH11):c.22del (p.Ser8fs) rs2043958603
NM_002474.3(MYH11):c.2320G>A (p.Val774Ile) rs147897132
NM_002474.3(MYH11):c.2339A>C (p.Glu780Ala) rs2041454597
NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter) rs777173010
NM_002474.3(MYH11):c.2349T>G (p.Asp783Glu)
NM_002474.3(MYH11):c.2356A>G (p.Ile786Val) rs2041454061
NM_002474.3(MYH11):c.235A>C (p.Met79Leu) rs2151381331
NM_002474.3(MYH11):c.2362G>A (p.Asp788Asn) rs768858261
NM_002474.3(MYH11):c.2365G>A (p.Val789Ile)
NM_002474.3(MYH11):c.2368A>G (p.Ile790Val) rs2041453442
NM_002474.3(MYH11):c.2383G>A (p.Ala795Thr) rs2041453117
NM_002474.3(MYH11):c.2398T>C (p.Tyr800His) rs1567723860
NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys) rs749801876
NM_002474.3(MYH11):c.2412-10C>G rs2041385623
NM_002474.3(MYH11):c.2412-15T>G rs373833673
NM_002474.3(MYH11):c.2412-8C>A rs200606975
NM_002474.3(MYH11):c.2412-8del
NM_002474.3(MYH11):c.2425A>G (p.Arg809Gly)
NM_002474.3(MYH11):c.2428C>G (p.Gln810Glu)
NM_002474.3(MYH11):c.2429A>G (p.Gln810Arg)
NM_002474.3(MYH11):c.244C>A (p.Pro82Thr) rs1431217461
NM_002474.3(MYH11):c.244C>T (p.Pro82Ser)
NM_002474.3(MYH11):c.2462G>A (p.Arg821Lys) rs2151256712
NM_002474.3(MYH11):c.2470G>A (p.Ala824Thr)
NM_002474.3(MYH11):c.2516C>A (p.Thr839Asn) rs1248564780
NM_002474.3(MYH11):c.2520+3G>A rs750078792
NM_002474.3(MYH11):c.2545C>T (p.Arg849Trp) rs869025471
NM_002474.3(MYH11):c.254C>T (p.Ser85Phe) rs148687580
NM_002474.3(MYH11):c.2561T>G (p.Met854Arg) rs2041283522
NM_002474.3(MYH11):c.2562G>A (p.Met854Ile) rs886039165
NM_002474.3(MYH11):c.2566G>A (p.Ala856Thr)
NM_002474.3(MYH11):c.2572G>A (p.Glu858Lys) rs1567718928
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn) rs2041282747
NM_002474.3(MYH11):c.2587A>G (p.Lys863Glu) rs2041282396
NM_002474.3(MYH11):c.259G>A (p.Val87Met)
NM_002474.3(MYH11):c.2609A>C (p.Lys870Thr) rs867202175
NM_002474.3(MYH11):c.260T>C (p.Val87Ala)
NM_002474.3(MYH11):c.2620G>A (p.Glu874Lys) rs2151251130
NM_002474.3(MYH11):c.2632C>A (p.Leu878Met) rs2041280783
NM_002474.3(MYH11):c.2645A>G (p.His882Arg) rs2151251073
NM_002474.3(MYH11):c.2653-6G>A rs200637980
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.2667_2668delinsCC (p.Lys889_Asn890delinsAsnHis)
NM_002474.3(MYH11):c.2669A>C (p.Asn890Thr) rs2041275775
NM_002474.3(MYH11):c.2670C>T (p.Asn890=) rs1596763358
NM_002474.3(MYH11):c.267C>A (p.Asp89Glu) rs775840903
NM_002474.3(MYH11):c.2681A>G (p.Glu894Gly)
NM_002474.3(MYH11):c.2699C>T (p.Thr900Ile) rs866907050
NM_002474.3(MYH11):c.2702A>G (p.Glu901Gly) rs1481169784
NM_002474.3(MYH11):c.2728C>T (p.Arg910Trp) rs2041274181
NM_002474.3(MYH11):c.272C>T (p.Ala91Val) rs1555459204
NM_002474.3(MYH11):c.2741C>A (p.Ala914Glu)
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) rs142128375
NM_002474.3(MYH11):c.2743G>T (p.Ala915Ser)
NM_002474.3(MYH11):c.2746A>G (p.Lys916Glu) rs2041273210
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg) rs1382626826
NM_002474.3(MYH11):c.2773C>G (p.His925Asp) rs756452596
NM_002474.3(MYH11):c.2774A>G (p.His925Arg)
NM_002474.3(MYH11):c.2786C>A (p.Ala929Asp)
NM_002474.3(MYH11):c.2813G>C (p.Gly938Ala) rs2041270792
NM_002474.3(MYH11):c.281C>G (p.Thr94Arg) rs794728681
NM_002474.3(MYH11):c.2834G>T (p.Arg945Met)
NM_002474.3(MYH11):c.2846C>T (p.Ala949Val)
NM_002474.3(MYH11):c.2859+3A>G rs2041269100
NM_002474.3(MYH11):c.2860-5C>T rs1223452979
NM_002474.3(MYH11):c.2860-8C>A rs1471253618
NM_002474.3(MYH11):c.28G>A (p.Asp10Asn)
NM_002474.3(MYH11):c.28G>T (p.Asp10Tyr) rs2043958315
NM_002474.3(MYH11):c.2902A>G (p.Lys968Glu) rs2151248150
NM_002474.3(MYH11):c.2917A>G (p.Lys973Glu)
NM_002474.3(MYH11):c.2919G>T (p.Lys973Asn) rs2041231978
NM_002474.3(MYH11):c.291C>A (p.Asn97Lys) rs113363750
NM_002474.3(MYH11):c.2940C>G (p.Ile980Met) rs2041231212
NM_002474.3(MYH11):c.294A>C (p.Glu98Asp) rs864309563
NM_002474.3(MYH11):c.2950G>C (p.Glu984Gln) rs1163072851
NM_002474.3(MYH11):c.2953G>A (p.Asp985Asn)
NM_002474.3(MYH11):c.2970G>A (p.Met990Ile) rs2041229911
NM_002474.3(MYH11):c.2981A>T (p.Asn994Ile) rs1219173895
NM_002474.3(MYH11):c.2989C>G (p.Leu997Val) rs2041228951
NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter) rs1064795023
NM_002474.3(MYH11):c.3022A>T (p.Ile1008Phe) rs1567715853
NM_002474.3(MYH11):c.3026G>C (p.Ser1009Thr)
NM_002474.3(MYH11):c.3032T>C (p.Leu1011Ser)
NM_002474.3(MYH11):c.3035C>A (p.Thr1012Lys) rs373881911
NM_002474.3(MYH11):c.3040A>G (p.Asn1014Asp) rs1347671761
NM_002474.3(MYH11):c.3041A>G (p.Asn1014Ser)
NM_002474.3(MYH11):c.3086A>G (p.Lys1029Arg) rs2041188958
NM_002474.3(MYH11):c.3098A>C (p.Glu1033Ala) rs2041188615
NM_002474.3(MYH11):c.3115C>A (p.Leu1039Met)
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val) rs1223757069
NM_002474.3(MYH11):c.3122T>C (p.Val1041Ala) rs2041159388
NM_002474.3(MYH11):c.3131A>C (p.Lys1044Thr) rs2041158967
NM_002474.3(MYH11):c.3166C>G (p.Leu1056Val) rs2041157922
NM_002474.3(MYH11):c.3195C>A (p.Ser1065Arg) rs202136377
NM_002474.3(MYH11):c.3197A>G (p.Asp1066Gly) rs2041156611
NM_002474.3(MYH11):c.3200T>G (p.Phe1067Cys)
NM_002474.3(MYH11):c.3202C>T (p.His1068Tyr)
NM_002474.3(MYH11):c.3208C>T (p.Gln1070Ter) rs2041155830
NM_002474.3(MYH11):c.3223C>T (p.Gln1075Ter) rs2041155319
NM_002474.3(MYH11):c.3226G>T (p.Ala1076Ser) rs1229749917
NM_002474.3(MYH11):c.3232A>G (p.Ile1078Val)
NM_002474.3(MYH11):c.3235G>T (p.Ala1079Ser) rs140479999
NM_002474.3(MYH11):c.3236C>T (p.Ala1079Val)
NM_002474.3(MYH11):c.3244_3270del (p.Lys1082_Glu1090del) rs1555557191
NM_002474.3(MYH11):c.3256G>C (p.Ala1086Pro) rs2151244086
NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val) rs945042608
NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr) rs2041152851
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe) rs757497342
NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn) rs764532365
NM_002474.3(MYH11):c.3304G>A (p.Glu1102Lys) rs761288871
NM_002474.3(MYH11):c.3311C>T (p.Ala1104Val) rs886051759
NM_002474.3(MYH11):c.3315GAA[1] (p.Lys1106del)
NM_002474.3(MYH11):c.3321C>G (p.Asn1107Lys)
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp) rs1451959711
NM_002474.3(MYH11):c.3341G>A (p.Arg1114Gln) rs1349239463
NM_002474.3(MYH11):c.3349G>A (p.Glu1117Lys)
NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val) rs886038788
NM_002474.3(MYH11):c.3364G>C (p.Asp1122His) rs2041091293
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val) rs886038854
NM_002474.3(MYH11):c.3380T>C (p.Leu1127Pro) rs2041090629
NM_002474.3(MYH11):c.3397G>T (p.Ala1133Ser) rs148731225
NM_002474.3(MYH11):c.3402G>C (p.Arg1134Ser)
NM_002474.3(MYH11):c.3405C>A (p.Asn1135Lys) rs760057221
NM_002474.3(MYH11):c.3425G>A (p.Arg1142Gln)
NM_002474.3(MYH11):c.3427G>T (p.Asp1143Tyr)
NM_002474.3(MYH11):c.3436G>A (p.Glu1146Lys) rs965028796
NM_002474.3(MYH11):c.3441G>C (p.Glu1147Asp) rs1567712736
NM_002474.3(MYH11):c.3443T>A (p.Leu1148Gln) rs1060500726
NM_002474.3(MYH11):c.345+6T>C rs2043942811
NM_002474.3(MYH11):c.3451C>A (p.Leu1151Ile)
NM_002474.3(MYH11):c.346-10_346-9del rs2151359938
NM_002474.3(MYH11):c.346-12C>A rs2043470235
NM_002474.3(MYH11):c.346-15del rs2043470304
NM_002474.3(MYH11):c.3463C>G (p.Leu1155Val) rs2151240818
NM_002474.3(MYH11):c.3475C>A (p.Leu1159Met)
NM_002474.3(MYH11):c.3485C>T (p.Thr1162Ile) rs2041086846
NM_002474.3(MYH11):c.3494A>T (p.Gln1165Leu) rs2151240746
NM_002474.3(MYH11):c.350A>T (p.Tyr117Phe) rs2151359917
NM_002474.3(MYH11):c.3541A>G (p.Lys1181Glu)
NM_002474.3(MYH11):c.3541_3542delinsGC (p.Lys1181Ala) rs1555555783
NM_002474.3(MYH11):c.3542A>C (p.Lys1181Thr)
NM_002474.3(MYH11):c.3552T>G (p.Asp1184Glu) rs2041002895
NM_002474.3(MYH11):c.3557A>G (p.Glu1186Gly) rs2151236097
NM_002474.3(MYH11):c.3566C>A (p.Ser1189Tyr) rs773443243
NM_002474.3(MYH11):c.3568C>T (p.His1190Tyr) rs371629304
NM_002474.3(MYH11):c.3570T>A (p.His1190Gln) rs769951224
NM_002474.3(MYH11):c.3577C>G (p.Gln1193Glu)
NM_002474.3(MYH11):c.3580G>T (p.Val1194Phe)
NM_002474.3(MYH11):c.3586_3588del (p.Glu1196del)
NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys) rs1057347498
NM_002474.3(MYH11):c.3605C>T (p.Ala1202Val)
NM_002474.3(MYH11):c.3625A>C (p.Thr1209Pro)
NM_002474.3(MYH11):c.3635T>G (p.Leu1212Arg)
NM_002474.3(MYH11):c.3650G>A (p.Arg1217Lys) rs2040997545
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.3652-9C>G rs1567705039
NM_002474.3(MYH11):c.3659C>T (p.Ala1220Val)
NM_002474.3(MYH11):c.3667G>C (p.Asp1223His) rs1264829172
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu) rs111940956
NM_002474.3(MYH11):c.3672_3674del (p.Lys1224del)
NM_002474.3(MYH11):c.3688G>C (p.Glu1230Gln) rs141948303
NM_002474.3(MYH11):c.3712G>C (p.Gly1238Arg) rs558332944
NM_002474.3(MYH11):c.3712G>T (p.Gly1238Trp) rs558332944
NM_002474.3(MYH11):c.3715G>A (p.Glu1239Lys) rs1256787988
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002474.3(MYH11):c.3735G>C (p.Gln1245His) rs2040796253
NM_002474.3(MYH11):c.3741G>C (p.Lys1247Asn)
NM_002474.3(MYH11):c.3745G>C (p.Glu1249Gln)
NM_002474.3(MYH11):c.3755A>T (p.His1252Leu)
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3759G>C (p.Lys1253Asn) rs746842838
NM_002474.3(MYH11):c.3781G>A (p.Val1261Met) rs1057518389
NM_002474.3(MYH11):c.3795G>C (p.Gln1265His) rs2040792879
NM_002474.3(MYH11):c.3807C>A (p.Ser1269Arg)
NM_002474.3(MYH11):c.3808G>C (p.Asp1270His) rs770319821
NM_002474.3(MYH11):c.3817C>G (p.Arg1273Gly) rs142227497
NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln) rs1473608237
NM_002474.3(MYH11):c.3818G>T (p.Arg1273Leu)
NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp) rs1182738877
NM_002474.3(MYH11):c.3829G>A (p.Glu1277Lys)
NM_002474.3(MYH11):c.3832C>G (p.Leu1278Val) rs2040790247
NM_002474.3(MYH11):c.3839A>C (p.Asp1280Ala)
NM_002474.3(MYH11):c.3845T>C (p.Val1282Ala) rs1555554044
NM_002474.3(MYH11):c.3845T>G (p.Val1282Gly) rs1555554044
NM_002474.3(MYH11):c.3856_3858+1dup rs1013512621
NM_002474.3(MYH11):c.391C>G (p.Leu131Val) rs111247524
NM_002474.3(MYH11):c.397A>G (p.Ile133Val) rs2043468274
NM_002474.3(MYH11):c.423G>A (p.Met141Ile) rs2043466892
NM_002474.3(MYH11):c.429G>T (p.Lys143Asn)
NM_002474.3(MYH11):c.440G>A (p.Arg147Lys) rs2043466068
NM_002474.3(MYH11):c.444C>A (p.His148Gln) rs569925780
NM_002474.3(MYH11):c.444C>G (p.His148Gln)
NM_002474.3(MYH11):c.461T>G (p.Ile154Ser)
NM_002474.3(MYH11):c.463T>G (p.Tyr155Asp)
NM_002474.3(MYH11):c.502+5G>C rs376531977
NM_002474.3(MYH11):c.503-1G>A rs2042810565
NM_002474.3(MYH11):c.505C>T (p.Arg169Trp) rs767290755
NM_002474.3(MYH11):c.531-13C>A
NM_002474.3(MYH11):c.531-2A>G rs2042478374
NM_002474.3(MYH11):c.535G>A (p.Glu179Lys)
NM_002474.3(MYH11):c.57C>A (p.Asn19Lys) rs148464745
NM_002474.3(MYH11):c.589G>A (p.Val197Met) rs1397436456
NM_002474.3(MYH11):c.595G>T (p.Ala199Ser)
NM_002474.3(MYH11):c.598T>C (p.Ser200Pro) rs763151112
NM_002474.3(MYH11):c.59T>G (p.Phe20Cys) rs2043957002
NM_002474.3(MYH11):c.604C>T (p.His202Tyr)
NM_002474.3(MYH11):c.605A>C (p.His202Pro) rs369194676
NM_002474.3(MYH11):c.623C>A (p.Thr208Lys)
NM_002474.3(MYH11):c.633+1900_633+1902del rs2042429734
NM_002474.3(MYH11):c.633+1905A>G
NM_002474.3(MYH11):c.633+1937G>A rs2151305406
NM_002474.3(MYH11):c.633G>A (p.Thr211=) rs765225250
NM_002474.3(MYH11):c.633G>T (p.Thr211=) rs765225250
NM_002474.3(MYH11):c.658C>A (p.Gln220Lys) rs1331223159
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala) rs752441599
NM_002474.3(MYH11):c.726+2dup rs2151303032
NM_002474.3(MYH11):c.726+6T>C rs2042375648
NM_002474.3(MYH11):c.727-11C>T rs886051766
NM_002474.3(MYH11):c.727-8G>T
NM_002474.3(MYH11):c.736A>G (p.Ile246Val) rs2042283446
NM_002474.3(MYH11):c.746A>G (p.Asn249Ser)
NM_002474.3(MYH11):c.751G>A (p.Asp251Asn)
NM_002474.3(MYH11):c.754G>A (p.Val252Ile) rs772078130
NM_002474.3(MYH11):c.804A>C (p.Lys268Asn)
NM_002474.3(MYH11):c.847A>C (p.Ile283Leu) rs1680622570
NM_002474.3(MYH11):c.852T>G (p.Phe284Leu) rs2042215219
NM_002474.3(MYH11):c.854A>G (p.Tyr285Cys)
NM_002474.3(MYH11):c.861G>A (p.Met287Ile) rs1371371071
NM_002474.3(MYH11):c.86A>C (p.Asp29Ala) rs2151381525
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly) rs2042214133
NM_002474.3(MYH11):c.890-4C>T
NM_002474.3(MYH11):c.907G>A (p.Gly303Ser)
NM_002474.3(MYH11):c.915C>G (p.Asn305Lys) rs2042105489
NM_002474.3(MYH11):c.91GCC[1] (p.Ala32del)
NM_002474.3(MYH11):c.922A>G (p.Thr308Ala)
NM_002474.3(MYH11):c.928C>T (p.Leu310Phe) rs2151291395
NM_002474.3(MYH11):c.952C>T (p.Pro318Ser)
NM_002474.3(MYH11):c.953C>T (p.Pro318Leu) rs1567747453
NM_002474.3(MYH11):c.963G>C (p.Gln321His) rs794728673
NM_002474.3(MYH11):c.964_969delinsCA (p.Asp322fs)
NM_002474.3(MYH11):c.986C>T (p.Thr329Ile)
NM_002474.3(MYH11):c.994G>T (p.Ala332Ser) rs2042103218
NM_002474.3(MYH11):c.99G>C (p.Lys33Asn) rs886038944

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