ClinVar Miner

List of variants reported as likely benign for aortic aneurysm, familial thoracic 4 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 907
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HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.3651+7_3651+11del rs369806813 0.01163
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) rs112657320 0.00093
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) rs143620567 0.00050
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_002474.3(MYH11):c.3776C>T (p.Ala1259Val) rs138623948 0.00040
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) rs146043349 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.1989G>A (p.Lys663=) rs138581000 0.00033
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=) rs111940956 0.00032
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) rs142654744 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866 0.00028
NM_002474.3(MYH11):c.3294-13C>G rs143110271 0.00026
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002474.3(MYH11):c.120G>A (p.Ser40=) rs144275008 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=) rs181548582 0.00021
NM_002474.3(MYH11):c.4663C>T (p.Leu1555=) rs202231621 0.00021
NM_017668.3(NDE1):c.948-3368C>A rs189463893 0.00019
NM_002474.3(MYH11):c.2850G>A (p.Gln950=) rs764706995 0.00018
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.2541G>A (p.Val847=) rs373920725 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) rs141031021 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.1317C>T (p.Arg439=) rs183292376 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_017668.3(NDE1):c.948-5886C>T rs368366419 0.00015
NM_002474.3(MYH11):c.1635G>C (p.Thr545=) rs773802963 0.00014
NM_002474.3(MYH11):c.3121+19G>A rs369952802 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 0.00014
NM_002474.3(MYH11):c.3891C>T (p.Asn1297=) rs541280738 0.00013
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys) rs777768672 0.00013
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_017668.3(NDE1):c.948-4464C>G rs375979600 0.00013
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) rs142613263 0.00012
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001 0.00011
NM_002474.3(MYH11):c.405G>A (p.Ser135=) rs375649016 0.00011
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_017668.3(NDE1):c.948-40C>T rs142707175 0.00011
NM_002474.3(MYH11):c.2658C>T (p.Thr886=) rs199587784 0.00010
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.585G>A (p.Leu195=) rs146695946 0.00010
NM_002474.3(MYH11):c.633+1906C>T rs775895834 0.00010
NM_017668.3(NDE1):c.*164A>C rs370252949 0.00010
NM_017668.3(NDE1):c.948-4866A>G rs770292380 0.00010
NM_002474.3(MYH11):c.3204C>T (p.His1068=) rs140143700 0.00009
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg) rs199713089 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys) rs772663756 0.00009
NM_002474.3(MYH11):c.690C>T (p.Asn230=) rs561105158 0.00009
NM_002474.3(MYH11):c.1344T>C (p.His448=) rs549593465 0.00008
NM_002474.3(MYH11):c.3039A>G (p.Thr1013=) rs550108687 0.00008
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_002474.3(MYH11):c.3228G>A (p.Ala1076=) rs773672888 0.00007
NM_002474.3(MYH11):c.3927C>T (p.Asp1309=) rs150712107 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_017668.3(NDE1):c.948-6832G>A rs780765461 0.00007
NM_002474.3(MYH11):c.1401+9C>T rs1047805271 0.00006
NM_002474.3(MYH11):c.1764G>A (p.Ala588=) rs375133214 0.00006
NM_002474.3(MYH11):c.2998-20C>G rs375953322 0.00006
NM_002474.3(MYH11):c.3213C>T (p.Ile1071=) rs374947185 0.00006
NM_002474.3(MYH11):c.3506+9C>T rs369837669 0.00006
NM_002474.3(MYH11):c.3858+13C>T rs375738696 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.3930G>A (p.Val1310=) rs369184213 0.00006
NM_002474.3(MYH11):c.4566C>T (p.Asp1522=) rs756552090 0.00006
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) rs190675029 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-3134G>A rs200223639 0.00006
NM_017668.3(NDE1):c.948-5747G>A rs370786181 0.00006
NM_002474.3(MYH11):c.3054G>A (p.Glu1018=) rs760751310 0.00005
NM_002474.3(MYH11):c.3612G>A (p.Ala1204=) rs771698839 0.00005
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) rs747923542 0.00005
NM_002474.3(MYH11):c.5430C>T (p.Ser1810=) rs528569286 0.00005
NM_002474.3(MYH11):c.708C>T (p.Asn236=) rs768328532 0.00005
NM_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
NM_002474.3(MYH11):c.1527C>T (p.Ile509=) rs564612796 0.00004
NM_002474.3(MYH11):c.1575+17C>T rs201890998 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.1608C>T (p.Asp536=) rs374769912 0.00004
NM_002474.3(MYH11):c.1864+19G>A rs200979632 0.00004
NM_002474.3(MYH11):c.2016G>A (p.Thr672=) rs374726567 0.00004
NM_002474.3(MYH11):c.2226C>T (p.Asp742=) rs745850224 0.00004
NM_002474.3(MYH11):c.2592C>T (p.Thr864=) rs771714041 0.00004
NM_002474.3(MYH11):c.2860-14C>G rs371582357 0.00004
NM_002474.3(MYH11):c.3282G>A (p.Ala1094=) rs200289373 0.00004
NM_002474.3(MYH11):c.3396C>T (p.Ala1132=) rs753096245 0.00004
NM_002474.3(MYH11):c.4008G>A (p.Thr1336=) rs749476388 0.00004
NM_002474.3(MYH11):c.4236G>A (p.Ala1412=) rs771460474 0.00004
NM_002474.3(MYH11):c.4638G>A (p.Thr1546=) rs141314621 0.00004
NM_002474.3(MYH11):c.503-9T>C rs554607161 0.00004
NM_002474.3(MYH11):c.5214C>T (p.Ile1738=) rs1439627120 0.00004
NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) rs375230260 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) rs760286479 0.00004
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) rs372546520 0.00004
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) rs146391904 0.00004
NM_002474.3(MYH11):c.588C>T (p.Ala196=) rs766469189 0.00004
NM_017668.3(NDE1):c.948-9300G>A rs769309834 0.00004
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=) rs373899395 0.00003
NM_002474.3(MYH11):c.1034-11C>T rs1334727126 0.00003
NM_002474.3(MYH11):c.1239A>G (p.Thr413=) rs780937971 0.00003
NM_002474.3(MYH11):c.1402-14C>T rs375973110 0.00003
NM_002474.3(MYH11):c.1440C>T (p.Asn480=) rs554373758 0.00003
NM_002474.3(MYH11):c.1503C>T (p.Arg501=) rs776843079 0.00003
NM_002474.3(MYH11):c.1806C>T (p.Asn602=) rs755086523 0.00003
NM_002474.3(MYH11):c.1905G>A (p.Thr635=) rs779037921 0.00003
NM_002474.3(MYH11):c.1923C>T (p.Ser641=) rs530466304 0.00003
NM_002474.3(MYH11):c.2199G>A (p.Ala733=) rs375397717 0.00003
NM_002474.3(MYH11):c.2412-15T>C rs373833673 0.00003
NM_002474.3(MYH11):c.2442C>T (p.Thr814=) rs759602174 0.00003
NM_002474.3(MYH11):c.2469C>T (p.Cys823=) rs749478973 0.00003
NM_002474.3(MYH11):c.342A>T (p.Ile114=) rs746783926 0.00003
NM_002474.3(MYH11):c.444C>T (p.His148=) rs569925780 0.00003
NM_002474.3(MYH11):c.4536A>G (p.Glu1512=) rs771367057 0.00003
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) rs369751362 0.00003
NM_002474.3(MYH11):c.4899C>A (p.Ala1633=) rs760584464 0.00003
NM_002474.3(MYH11):c.503-12T>A rs757533996 0.00003
NM_002474.3(MYH11):c.5064C>T (p.Asp1688=) rs751375975 0.00003
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) rs145101141 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.546C>T (p.Ala182=) rs113577450 0.00003
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) rs150860193 0.00003
NM_002474.3(MYH11):c.5733G>A (p.Thr1911=) rs372173243 0.00003
NM_002474.3(MYH11):c.726+7A>G rs1046382297 0.00003
NM_002474.3(MYH11):c.939C>G (p.Gly313=) rs773165722 0.00003
NM_017668.3(NDE1):c.*162C>T rs754942889 0.00003
NM_017668.3(NDE1):c.*172G>A rs374648974 0.00003
NM_017668.3(NDE1):c.*755G>T rs763714252 0.00003
NM_017668.3(NDE1):c.948-4980G>A rs780145425 0.00003
NM_017668.3(NDE1):c.948-9104G>A rs200522079 0.00003
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) rs778350253 0.00002
NM_002474.3(MYH11):c.1077C>T (p.Ile359=) rs763238555 0.00002
NM_002474.3(MYH11):c.1130-13T>C rs752403056 0.00002
NM_002474.3(MYH11):c.1185C>G (p.Ser395=) rs377660115 0.00002
NM_002474.3(MYH11):c.1311C>T (p.Leu437=) rs750121905 0.00002
NM_002474.3(MYH11):c.1401+10G>A rs375209947 0.00002
NM_002474.3(MYH11):c.1402-13G>A rs201713082 0.00002
NM_002474.3(MYH11):c.1413C>T (p.Phe471=) rs758885290 0.00002
NM_002474.3(MYH11):c.1575+12G>A rs200620686 0.00002
NM_002474.3(MYH11):c.1689C>T (p.Phe563=) rs201401918 0.00002
NM_002474.3(MYH11):c.1719T>C (p.Thr573=) rs759846780 0.00002
NM_002474.3(MYH11):c.1815C>A (p.Ser605=) rs1157469426 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.2001G>A (p.Thr667=) rs541451054 0.00002
NM_002474.3(MYH11):c.2010C>T (p.Asn670=) rs774336703 0.00002
NM_002474.3(MYH11):c.2082G>A (p.Leu694=) rs370934806 0.00002
NM_002474.3(MYH11):c.2112G>A (p.Val704=) rs781085663 0.00002
NM_002474.3(MYH11):c.2361C>T (p.Thr787=) rs763003023 0.00002
NM_002474.3(MYH11):c.2652+17A>G rs112982936 0.00002
NM_002474.3(MYH11):c.2886G>A (p.Glu962=) rs764759988 0.00002
NM_002474.3(MYH11):c.2997+14G>A rs753414681 0.00002
NM_002474.3(MYH11):c.2997+18G>A rs1406127565 0.00002
NM_002474.3(MYH11):c.3036G>A (p.Thr1012=) rs1409053471 0.00002
NM_002474.3(MYH11):c.3168G>A (p.Leu1056=) rs113089286 0.00002
NM_002474.3(MYH11):c.3342G>C (p.Arg1114=) rs781053281 0.00002
NM_002474.3(MYH11):c.33G>T (p.Glu11Asp) rs148562366 0.00002
NM_002474.3(MYH11):c.345+10G>T rs770225374 0.00002
NM_002474.3(MYH11):c.3480C>T (p.Asp1160=) rs771004572 0.00002
NM_002474.3(MYH11):c.3615G>A (p.Val1205=) rs778427580 0.00002
NM_002474.3(MYH11):c.3652-10_3652-9insT rs773590187 0.00002
NM_002474.3(MYH11):c.3660G>A (p.Ala1220=) rs1031958083 0.00002
NM_002474.3(MYH11):c.3684G>A (p.Thr1228=) rs370483512 0.00002
NM_002474.3(MYH11):c.4059C>T (p.Asp1353=) rs753575083 0.00002
NM_002474.3(MYH11):c.4140G>C (p.Leu1380=) rs1288382755 0.00002
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=) rs1346896885 0.00002
NM_002474.3(MYH11):c.45T>C (p.Phe15=) rs1042574548 0.00002
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=) rs754931029 0.00002
NM_002474.3(MYH11):c.5166G>A (p.Ser1722=) rs746491351 0.00002
NM_002474.3(MYH11):c.5175C>T (p.Asn1725=) rs753293134 0.00002
NM_002474.3(MYH11):c.5298C>T (p.Ala1766=) rs753482794 0.00002
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=) rs767453646 0.00002
NM_002474.3(MYH11):c.5328G>A (p.Glu1776=) rs773366562 0.00002
NM_002474.3(MYH11):c.5451G>A (p.Ala1817=) rs774717188 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.63C>T (p.Ile21=) rs755935176 0.00002
NM_002474.3(MYH11):c.750C>T (p.Phe250=) rs746765174 0.00002
NM_002474.3(MYH11):c.791-12C>T rs188298124 0.00002
NM_017668.3(NDE1):c.*561T>C rs1391587565 0.00002
NM_017668.3(NDE1):c.948-4055C>T rs767255396 0.00002
NM_017668.3(NDE1):c.948-44C>T rs1279126358 0.00002
NM_017668.3(NDE1):c.948-4616G>A rs775737495 0.00002
NM_017668.3(NDE1):c.948-9294C>T rs748529228 0.00002
NM_002474.3(MYH11):c.1020G>A (p.Glu340=) rs1225127871 0.00001
NM_002474.3(MYH11):c.1034-19C>T rs746685202 0.00001
NM_002474.3(MYH11):c.1047G>T (p.Val349=) rs765006823 0.00001
NM_002474.3(MYH11):c.105C>T (p.Leu35=) rs779367784 0.00001
NM_002474.3(MYH11):c.1170A>C (p.Thr390=) rs1355157546 0.00001
NM_002474.3(MYH11):c.1263A>G (p.Val421=) rs756510267 0.00001
NM_002474.3(MYH11):c.1316G>A (p.Arg439His) rs372247345 0.00001
NM_002474.3(MYH11):c.1323C>T (p.Asn441=) rs1159394998 0.00001
NM_002474.3(MYH11):c.1356T>A (p.Ala452=) rs778073237 0.00001
NM_002474.3(MYH11):c.1371C>A (p.Ile457=) rs1434654520 0.00001
NM_002474.3(MYH11):c.1402-12C>G rs769036516 0.00001
NM_002474.3(MYH11):c.1470C>A (p.Thr490=) rs759428938 0.00001
NM_002474.3(MYH11):c.1557C>T (p.Ile519=) rs959105164 0.00001
NM_002474.3(MYH11):c.1566C>T (p.Ile522=) rs541905355 0.00001
NM_002474.3(MYH11):c.1576-15A>G rs760708640 0.00001
NM_002474.3(MYH11):c.1576-4A>G rs189193825 0.00001
NM_002474.3(MYH11):c.1614A>G (p.Glu538=) rs1403181209 0.00001
NM_002474.3(MYH11):c.1638C>T (p.Asp546=) rs769457322 0.00001
NM_002474.3(MYH11):c.1665G>A (p.Thr555=) rs779863003 0.00001
NM_002474.3(MYH11):c.1680C>T (p.His560=) rs886038947 0.00001
NM_002474.3(MYH11):c.1686G>A (p.Lys562=) rs1033911743 0.00001
NM_002474.3(MYH11):c.1750-7T>C rs1192091167 0.00001
NM_002474.3(MYH11):c.1776G>A (p.Leu592=) rs1239338323 0.00001
NM_002474.3(MYH11):c.1782G>A (p.Lys594=) rs774175693 0.00001
NM_002474.3(MYH11):c.1794G>A (p.Pro598=) rs749272388 0.00001
NM_002474.3(MYH11):c.1827C>T (p.Ala609=) rs1177383353 0.00001
NM_002474.3(MYH11):c.1833C>T (p.Ser611=) rs990109247 0.00001
NM_002474.3(MYH11):c.1851C>T (p.Asp617=) rs1233324109 0.00001
NM_002474.3(MYH11):c.1864+8C>T rs1297078684 0.00001
NM_002474.3(MYH11):c.1865-13C>G rs1205098779 0.00001
NM_002474.3(MYH11):c.1875C>T (p.Ile625=) rs1018954722 0.00001
NM_002474.3(MYH11):c.1914G>A (p.Ser638=) rs749496185 0.00001
NM_002474.3(MYH11):c.1956A>G (p.Thr652=) rs753238525 0.00001
NM_002474.3(MYH11):c.2025C>T (p.Phe675=) rs140684159 0.00001
NM_002474.3(MYH11):c.2058+10G>A rs757874059 0.00001
NM_002474.3(MYH11):c.2058+9C>T rs367613458 0.00001
NM_002474.3(MYH11):c.2076G>A (p.Ala692=) rs760143947 0.00001
NM_002474.3(MYH11):c.210G>A (p.Thr70=) rs751505124 0.00001
NM_002474.3(MYH11):c.2180+8C>A rs372624513 0.00001
NM_002474.3(MYH11):c.2184C>T (p.Tyr728=) rs773539549 0.00001
NM_002474.3(MYH11):c.2196G>A (p.Ala732=) rs199961254 0.00001
NM_002474.3(MYH11):c.2251-9C>T rs749222918 0.00001
NM_002474.3(MYH11):c.2340G>A (p.Glu780=) rs746358645 0.00001
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln) rs200835799 0.00001
NM_002474.3(MYH11):c.2385G>A (p.Ala795=) rs772248675 0.00001
NM_002474.3(MYH11):c.2412-10C>A rs2041385623 0.00001
NM_002474.3(MYH11):c.2412-4C>T rs750313377 0.00001
NM_002474.3(MYH11):c.2445C>T (p.Ala815=) rs1057513174 0.00001
NM_002474.3(MYH11):c.2521-13C>T rs1359130399 0.00001
NM_002474.3(MYH11):c.2535G>C (p.Leu845=) rs376763868 0.00001
NM_002474.3(MYH11):c.2545C>A (p.Arg849=) rs869025471 0.00001
NM_002474.3(MYH11):c.2574G>A (p.Glu858=) rs150603682 0.00001
NM_002474.3(MYH11):c.2628G>A (p.Lys876=) rs1419915151 0.00001
NM_002474.3(MYH11):c.2653-7C>T rs372698538 0.00001
NM_002474.3(MYH11):c.2653-9T>C rs369365932 0.00001
NM_002474.3(MYH11):c.2733G>A (p.Val911=) rs200531561 0.00001
NM_002474.3(MYH11):c.273G>A (p.Ala91=) rs549825667 0.00001
NM_002474.3(MYH11):c.2742G>A (p.Ala914=) rs749394349 0.00001
NM_002474.3(MYH11):c.2745C>T (p.Ala915=) rs555972324 0.00001
NM_002474.3(MYH11):c.2757G>A (p.Glu919=) rs1383964552 0.00001
NM_002474.3(MYH11):c.27C>T (p.Asp9=) rs769179119 0.00001
NM_002474.3(MYH11):c.2814C>G (p.Gly938=) rs1325652306 0.00001
NM_002474.3(MYH11):c.2847C>T (p.Ala949=) rs1340072984 0.00001
NM_002474.3(MYH11):c.2860-10C>T rs1180352165 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002474.3(MYH11):c.3018G>A (p.Glu1006=) rs1469418234 0.00001
NM_002474.3(MYH11):c.306A>G (p.Leu102=) rs1241449568 0.00001
NM_002474.3(MYH11):c.3121+10C>T rs1269119636 0.00001
NM_002474.3(MYH11):c.3144G>A (p.Lys1048=) rs763362977 0.00001
NM_002474.3(MYH11):c.3180G>A (p.Leu1060=) rs768243572 0.00001
NM_002474.3(MYH11):c.3234C>T (p.Ile1078=) rs1232373874 0.00001
NM_002474.3(MYH11):c.3276G>A (p.Leu1092=) rs756933550 0.00001
NM_002474.3(MYH11):c.3293+7G>A rs201955317 0.00001
NM_002474.3(MYH11):c.3294-10del rs756946356 0.00001
NM_002474.3(MYH11):c.3300C>T (p.Asp1100=) rs761918065 0.00001
NM_002474.3(MYH11):c.3432C>T (p.Leu1144=) rs145289672 0.00001
NM_002474.3(MYH11):c.3447G>A (p.Glu1149=) rs1596753091 0.00001
NM_002474.3(MYH11):c.345+10G>A rs770225374 0.00001
NM_002474.3(MYH11):c.346-10C>T rs778973081 0.00001
NM_002474.3(MYH11):c.346-18T>C rs779960147 0.00001
NM_002474.3(MYH11):c.3561G>A (p.Thr1187=) rs139271438 0.00001
NM_002474.3(MYH11):c.357C>T (p.Gly119=) rs751716152 0.00001
NM_002474.3(MYH11):c.3594G>A (p.Arg1198=) rs138908402 0.00001
NM_002474.3(MYH11):c.3618G>A (p.Glu1206=) rs957776829 0.00001
NM_002474.3(MYH11):c.3652-13C>T rs775855747 0.00001
NM_002474.3(MYH11):c.3652-14G>C rs760789288 0.00001
NM_002474.3(MYH11):c.3652-5G>A rs1208868468 0.00001
NM_002474.3(MYH11):c.366C>T (p.Cys122=) rs372775942 0.00001
NM_002474.3(MYH11):c.3711C>T (p.Ala1237=) rs576890377 0.00001
NM_002474.3(MYH11):c.3720G>A (p.Leu1240=) rs1345500787 0.00001
NM_002474.3(MYH11):c.3777G>A (p.Ala1259=) rs370031545 0.00001
NM_002474.3(MYH11):c.3792G>T (p.Leu1264=) rs1356471048 0.00001
NM_002474.3(MYH11):c.3807C>T (p.Ser1269=) rs773533472 0.00001
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=) rs752821481 0.00001
NM_002474.3(MYH11):c.3840C>T (p.Asp1280=) rs1279730451 0.00001
NM_002474.3(MYH11):c.3873C>T (p.Ser1291=) rs140339691 0.00001
NM_002474.3(MYH11):c.3879A>G (p.Thr1293=) rs761364286 0.00001
NM_002474.3(MYH11):c.3906G>A (p.Lys1302=) rs1310898450 0.00001
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_002474.3(MYH11):c.3933G>A (p.Ala1311=) rs78857360 0.00001
NM_002474.3(MYH11):c.396C>T (p.Pro132=) rs768040429 0.00001
NM_002474.3(MYH11):c.3999C>T (p.Asn1333=) rs768465413 0.00001
NM_002474.3(MYH11):c.4032G>A (p.Glu1344=) rs1036466264 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4122C>T (p.Ser1374=) rs377329568 0.00001
NM_002474.3(MYH11):c.4176G>A (p.Glu1392=) rs1376881641 0.00001
NM_002474.3(MYH11):c.4374C>T (p.Ala1458=) rs767066866 0.00001
NM_002474.3(MYH11):c.4377G>A (p.Glu1459=) rs2040489515 0.00001
NM_002474.3(MYH11):c.4515C>G (p.Thr1505=) rs140395834 0.00001
NM_002474.3(MYH11):c.4590G>A (p.Leu1530=) rs2040445031 0.00001
NM_002474.3(MYH11):c.459C>T (p.His153=) rs1057521511 0.00001
NM_002474.3(MYH11):c.4602G>A (p.Lys1534=) rs777186791 0.00001
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys) rs751716762 0.00001
NM_002474.3(MYH11):c.4653G>A (p.Leu1551=) rs763247849 0.00001
NM_002474.3(MYH11):c.465C>T (p.Tyr155=) rs145810355 0.00001
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) rs747434041 0.00001
NM_002474.3(MYH11):c.4674G>A (p.Thr1558=) rs778499852 0.00001
NM_002474.3(MYH11):c.4761T>C (p.Asn1587=) rs376132003 0.00001
NM_002474.3(MYH11):c.4797C>T (p.His1599=) rs764996278 0.00001
NM_002474.3(MYH11):c.4815G>A (p.Leu1605=) rs1401043343 0.00001
NM_002474.3(MYH11):c.483C>T (p.Ala161=) rs1410270945 0.00001
NM_002474.3(MYH11):c.4872G>A (p.Gly1624=) rs764800035 0.00001
NM_002474.3(MYH11):c.4884C>T (p.Asp1628=) rs780786328 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) rs199638486 0.00001
NM_002474.3(MYH11):c.502+9A>G rs1268824781 0.00001
NM_002474.3(MYH11):c.5067C>A (p.Leu1689=) rs139565043 0.00001
NM_002474.3(MYH11):c.5076A>G (p.Leu1692=) rs1555551468 0.00001
NM_002474.3(MYH11):c.5088C>T (p.Leu1696=) rs776142323 0.00001
NM_002474.3(MYH11):c.5091C>T (p.Ala1697=) rs996178983 0.00001
NM_002474.3(MYH11):c.5124C>T (p.Leu1708=) rs777163903 0.00001
NM_002474.3(MYH11):c.5157T>C (p.Ser1719=) rs771625605 0.00001
NM_002474.3(MYH11):c.5196C>T (p.Arg1732=) rs970185342 0.00001
NM_002474.3(MYH11):c.531-11G>A rs779757963 0.00001
NM_002474.3(MYH11):c.5322C>T (p.Ala1774=) rs759322440 0.00001
NM_002474.3(MYH11):c.534C>T (p.Gly178=) rs764984716 0.00001
NM_002474.3(MYH11):c.540T>C (p.Ser180=) rs182700462 0.00001
NM_002474.3(MYH11):c.5424C>G (p.Val1808=) rs754800330 0.00001
NM_002474.3(MYH11):c.5448C>T (p.Ile1816=) rs201308235 0.00001
NM_002474.3(MYH11):c.5484G>A (p.Glu1828=) rs1372132646 0.00001
NM_002474.3(MYH11):c.5490C>T (p.Val1830=) rs770582589 0.00001
NM_002474.3(MYH11):c.5511A>G (p.Lys1837=) rs111697558 0.00001
NM_002474.3(MYH11):c.5520C>T (p.Ala1840=) rs1423184796 0.00001
NM_002474.3(MYH11):c.5532G>A (p.Leu1844=) rs1205663701 0.00001
NM_002474.3(MYH11):c.5553G>A (p.Leu1851=) rs537426836 0.00001
NM_002474.3(MYH11):c.5574G>A (p.Val1858=) rs758553530 0.00001
NM_002474.3(MYH11):c.5580C>T (p.Asp1860=) rs750821241 0.00001
NM_002474.3(MYH11):c.5713C>A (p.Arg1905=) rs749422717 0.00001
NM_002474.3(MYH11):c.5760G>A (p.Glu1920=) rs199997929 0.00001
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) rs764020019 0.00001
NM_002474.3(MYH11):c.669G>A (p.Pro223=) rs562249787 0.00001
NM_002474.3(MYH11):c.720A>T (p.Ser240=) rs143160789 0.00001
NM_002474.3(MYH11):c.768C>T (p.Ile256=) rs756118392 0.00001
NM_002474.3(MYH11):c.78C>G (p.Ala26=) rs917804462 0.00001
NM_002474.3(MYH11):c.795G>T (p.Leu265=) rs922121420 0.00001
NM_002474.3(MYH11):c.882G>A (p.Lys294=) rs536912174 0.00001
NM_017668.3(NDE1):c.947+11990G>A rs745371874 0.00001
NM_017668.3(NDE1):c.947+11996G>A rs772569815 0.00001
NM_017668.3(NDE1):c.947+12000C>T rs769187225 0.00001
NM_017668.3(NDE1):c.948-2553C>T rs760252350 0.00001
NM_017668.3(NDE1):c.948-3122del rs1322794078 0.00001
NM_017668.3(NDE1):c.948-3361A>G rs764276381 0.00001
NM_017668.3(NDE1):c.948-3365C>T rs374628714 0.00001
NM_017668.3(NDE1):c.948-3870G>A rs201567063 0.00001
NM_017668.3(NDE1):c.948-3872G>A rs375652279 0.00001
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_017668.3(NDE1):c.948-4047C>A rs376565831 0.00001
NM_017668.3(NDE1):c.948-4617C>T rs199717623 0.00001
NM_017668.3(NDE1):c.948-5742G>A rs779166026 0.00001
NM_017668.3(NDE1):c.948-5749G>T rs925759805 0.00001
NM_017668.3(NDE1):c.948-9105C>T rs201028938 0.00001
NM_017668.3(NDE1):c.948-9290C>T rs367631852 0.00001
NM_017668.3(NDE1):c.957G>A (p.Thr319=) rs369335485 0.00001
NM_017668.3(NDE1):c.972G>A (p.Leu324=) rs752854220 0.00001
NM_017668.3(NDE1):c.987C>T (p.Thr329=) rs373591888 0.00001
NM_001040113.2(MYH11):c.5814C>A (p.Pro1938=) rs1596675342
NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=) rs1057524493
NM_001040113.2(MYH11):c.5817C>T (p.Pro1939=) rs1057524493
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs) rs2039612615
NM_002474.3(MYH11):c.1032A>T (p.Leu344=) rs112474866
NM_002474.3(MYH11):c.1033+14C>A
NM_002474.3(MYH11):c.1033+19G>A
NM_002474.3(MYH11):c.1034-10C>T
NM_002474.3(MYH11):c.1044G>A (p.Lys348=)
NM_002474.3(MYH11):c.1047G>A (p.Val349=) rs765006823
NM_002474.3(MYH11):c.1050A>G (p.Val350=)
NM_002474.3(MYH11):c.105C>A (p.Leu35=)
NM_002474.3(MYH11):c.1060C>T (p.Leu354=)
NM_002474.3(MYH11):c.1074T>C (p.Asn358=) rs2151282590
NM_002474.3(MYH11):c.1110G>A (p.Ala370=)
NM_002474.3(MYH11):c.1110G>T (p.Ala370=) rs746485704
NM_002474.3(MYH11):c.1129+20G>A
NM_002474.3(MYH11):c.1129+8C>T rs1355870460
NM_002474.3(MYH11):c.1130-10C>T
NM_002474.3(MYH11):c.1130-11T>G
NM_002474.3(MYH11):c.1130-20T>C
NM_002474.3(MYH11):c.1173T>C (p.Asp391=) rs2151278650
NM_002474.3(MYH11):c.1206G>A (p.Lys402=)
NM_002474.3(MYH11):c.1221G>A (p.Val407=)
NM_002474.3(MYH11):c.1248+10T>A
NM_002474.3(MYH11):c.1248+16T>A
NM_002474.3(MYH11):c.1248+19C>G
NM_002474.3(MYH11):c.1249-14G>A
NM_002474.3(MYH11):c.1249-7T>C rs370885351
NM_002474.3(MYH11):c.1249-7_1249-6insCCCTGGTTC
NM_002474.3(MYH11):c.1249-8CT[3] rs770987711
NM_002474.3(MYH11):c.1281A>G (p.Ala427=)
NM_002474.3(MYH11):c.129G>A (p.Gln43=)
NM_002474.3(MYH11):c.132C>T (p.Gly44=) rs973818233
NM_002474.3(MYH11):c.1330C>T (p.Leu444=)
NM_002474.3(MYH11):c.1341C>A (p.Thr447=) rs200660016
NM_002474.3(MYH11):c.1341C>T (p.Thr447=) rs200660016
NM_002474.3(MYH11):c.1365G>A (p.Leu455=)
NM_002474.3(MYH11):c.1401+11_1401+15dup rs920060295
NM_002474.3(MYH11):c.1401+12T>G
NM_002474.3(MYH11):c.1401+13G>A rs1211058223
NM_002474.3(MYH11):c.1401+19C>T
NM_002474.3(MYH11):c.1401+8T>C
NM_002474.3(MYH11):c.1401+8T>G rs2151277060
NM_002474.3(MYH11):c.1401+9C>A
NM_002474.3(MYH11):c.1402-4T>A
NM_002474.3(MYH11):c.1402-5C>G rs372223335
NM_002474.3(MYH11):c.1402-6G>A rs1060504020
NM_002474.3(MYH11):c.1410C>T (p.Ser470=) rs2151275005
NM_002474.3(MYH11):c.1449G>A (p.Leu483=) rs2151274961
NM_002474.3(MYH11):c.1485G>A (p.Glu495=)
NM_002474.3(MYH11):c.1503C>A (p.Arg501=)
NM_002474.3(MYH11):c.1503C>G (p.Arg501=) rs776843079
NM_002474.3(MYH11):c.1506G>A (p.Glu502=)
NM_002474.3(MYH11):c.1515G>A (p.Glu505=)
NM_002474.3(MYH11):c.1537C>T (p.Leu513=)
NM_002474.3(MYH11):c.153G>A (p.Lys51=)
NM_002474.3(MYH11):c.1560G>A (p.Glu520=)
NM_002474.3(MYH11):c.1575+18G>A
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.1576-5C>T
NM_002474.3(MYH11):c.1576-9C>T rs1057521240
NM_002474.3(MYH11):c.1584T>C (p.Pro528=) rs1596787824
NM_002474.3(MYH11):c.1594C>T (p.Leu532=) rs2041720440
NM_002474.3(MYH11):c.1599C>G (p.Ala533=)
NM_002474.3(MYH11):c.1647C>T (p.Phe549=)
NM_002474.3(MYH11):c.1653G>A (p.Glu551=)
NM_002474.3(MYH11):c.1657C>T (p.Leu553=) rs1555562404
NM_002474.3(MYH11):c.1674C>A (p.Gly558=) rs944590759
NM_002474.3(MYH11):c.1713C>T (p.Asp571=)
NM_002474.3(MYH11):c.1758T>C (p.Tyr586=)
NM_002474.3(MYH11):c.1764G>C (p.Ala588=) rs375133214
NM_002474.3(MYH11):c.1815C>T (p.Ser605=)
NM_002474.3(MYH11):c.1816C>T (p.Leu606=) rs2151268945
NM_002474.3(MYH11):c.1864+18C>T
NM_002474.3(MYH11):c.1865-11G>A
NM_002474.3(MYH11):c.1865-4A>C
NM_002474.3(MYH11):c.1908G>A (p.Glu636=) rs1312174913
NM_002474.3(MYH11):c.1926C>T (p.Ala642=) rs1043732204
NM_002474.3(MYH11):c.1932G>A (p.Lys644=)
NM_002474.3(MYH11):c.1950C>T (p.Phe650=)
NM_002474.3(MYH11):c.195T>C (p.Asn65=)
NM_002474.3(MYH11):c.1990C>T (p.Leu664=) rs762549707
NM_002474.3(MYH11):c.2028G>A (p.Val676=) rs2151263827
NM_002474.3(MYH11):c.2058+12C>T
NM_002474.3(MYH11):c.2058+13G>A
NM_002474.3(MYH11):c.2059-19C>A
NM_002474.3(MYH11):c.2086C>T (p.Leu696=)
NM_002474.3(MYH11):c.2088G>A (p.Leu696=)
NM_002474.3(MYH11):c.2100G>A (p.Arg700=)
NM_002474.3(MYH11):c.210G>C (p.Thr70=)
NM_002474.3(MYH11):c.2130C>T (p.Ile710=)
NM_002474.3(MYH11):c.2145C>T (p.Phe715=) rs2151260835
NM_002474.3(MYH11):c.2157C>T (p.Ile719=) rs561099193
NM_002474.3(MYH11):c.2160C>A (p.Val720=)
NM_002474.3(MYH11):c.2180+12G>A
NM_002474.3(MYH11):c.2203G>A (p.Ala735Thr)
NM_002474.3(MYH11):c.2229G>A (p.Gly743=)
NM_002474.3(MYH11):c.2250+13G>T rs2151260370
NM_002474.3(MYH11):c.2251-4G>A
NM_002474.3(MYH11):c.2251-9C>A rs749222918
NM_002474.3(MYH11):c.2251-9C>G rs749222918
NM_002474.3(MYH11):c.2277C>T (p.Asn759=)
NM_002474.3(MYH11):c.2283C>T (p.Tyr761=)
NM_002474.3(MYH11):c.228C>T (p.Ile76=) rs1596936743
NM_002474.3(MYH11):c.2292G>T (p.Gly764=) rs780354636
NM_002474.3(MYH11):c.2295G>A (p.Gln765=) rs750809712
NM_002474.3(MYH11):c.2304C>A (p.Ile768=)
NM_002474.3(MYH11):c.2304C>T (p.Ile768=) rs2041455669
NM_002474.3(MYH11):c.2307C>T (p.Phe769=)
NM_002474.3(MYH11):c.2319C>T (p.Gly773=) rs763625795
NM_002474.3(MYH11):c.2346A>G (p.Arg782=)
NM_002474.3(MYH11):c.2349T>C (p.Asp783=) rs1479208928
NM_002474.3(MYH11):c.2350T>C (p.Leu784=)
NM_002474.3(MYH11):c.2367C>T (p.Val789=) rs1555560257
NM_002474.3(MYH11):c.2401T>C (p.Leu801=) rs1596772772
NM_002474.3(MYH11):c.2409A>G (p.Arg803=)
NM_002474.3(MYH11):c.2411+18C>A
NM_002474.3(MYH11):c.2411+20T>C
NM_002474.3(MYH11):c.2412-13C>T rs535996972
NM_002474.3(MYH11):c.2412-20T>C
NM_002474.3(MYH11):c.2412-7del
NM_002474.3(MYH11):c.2412-8C>G
NM_002474.3(MYH11):c.2412-9C>G rs148682361
NM_002474.3(MYH11):c.2412-9C>T rs148682361
NM_002474.3(MYH11):c.2415T>C (p.Ala805=)
NM_002474.3(MYH11):c.2430G>A (p.Gln810=)
NM_002474.3(MYH11):c.2442C>A (p.Thr814=)
NM_002474.3(MYH11):c.2472C>A (p.Ala824=) rs1050113
NM_002474.3(MYH11):c.2475C>T (p.Ala825=) rs886038948
NM_002474.3(MYH11):c.2485C>T (p.Leu829=) rs2151256658
NM_002474.3(MYH11):c.2490G>A (p.Arg830=) rs1555559592
NM_002474.3(MYH11):c.2490G>T (p.Arg830=)
NM_002474.3(MYH11):c.2493C>T (p.Asn831=) rs1409089082
NM_002474.3(MYH11):c.2520+9T>C
NM_002474.3(MYH11):c.2521-10G>A rs2041285746
NM_002474.3(MYH11):c.2521-10G>C rs2041285746
NM_002474.3(MYH11):c.2521-11TG[3]
NM_002474.3(MYH11):c.2521-11TG[5] rs759661418
NM_002474.3(MYH11):c.2521-19G>A rs1223676828
NM_002474.3(MYH11):c.2556G>A (p.Glu852=)
NM_002474.3(MYH11):c.2571G>A (p.Lys857=)
NM_002474.3(MYH11):c.2581C>T (p.Leu861=) rs2151251202
NM_002474.3(MYH11):c.258G>A (p.Lys86=) rs2043946477
NM_002474.3(MYH11):c.2607G>A (p.Gln869=)
NM_002474.3(MYH11):c.261G>A (p.Val87=) rs1193273261
NM_002474.3(MYH11):c.2631G>A (p.Glu877=)
NM_002474.3(MYH11):c.2632C>T (p.Leu878=) rs2041280783
NM_002474.3(MYH11):c.2649G>T (p.Ser883=)
NM_002474.3(MYH11):c.2652+14T>C
NM_002474.3(MYH11):c.2652+15G>A
NM_002474.3(MYH11):c.2652+18T>C rs1567718725
NM_002474.3(MYH11):c.2652+9A>G
NM_002474.3(MYH11):c.2653-18C>A
NM_002474.3(MYH11):c.2653-6G>A rs200637980
NM_002474.3(MYH11):c.2653-6G>C rs200637980
NM_002474.3(MYH11):c.2655G>A (p.Leu885=) rs760141485
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.2670C>T (p.Asn890=) rs1596763358
NM_002474.3(MYH11):c.2673G>C (p.Leu891=) rs953728514
NM_002474.3(MYH11):c.2679G>A (p.Gln893=)
NM_002474.3(MYH11):c.267C>T (p.Asp89=) rs775840903
NM_002474.3(MYH11):c.2704C>T (p.Leu902=) rs2151250600
NM_002474.3(MYH11):c.2728C>A (p.Arg910=)
NM_002474.3(MYH11):c.2742G>T (p.Ala914=)
NM_002474.3(MYH11):c.2772G>A (p.Leu924=) rs1470718270
NM_002474.3(MYH11):c.2796G>A (p.Glu932=)
NM_002474.3(MYH11):c.279G>C (p.Leu93=)
NM_002474.3(MYH11):c.282G>A (p.Thr94=) rs759914132
NM_002474.3(MYH11):c.282G>T (p.Thr94=) rs759914132
NM_002474.3(MYH11):c.2835G>A (p.Arg945=) rs1169016165
NM_002474.3(MYH11):c.2857C>T (p.Leu953=) rs2151250256
NM_002474.3(MYH11):c.2859+12_2859+19del
NM_002474.3(MYH11):c.2859+9T>A
NM_002474.3(MYH11):c.285C>T (p.Cys95=) rs2151381283
NM_002474.3(MYH11):c.2860-5C>T rs1223452979
NM_002474.3(MYH11):c.2874G>A (p.Gln958=) rs1224542019
NM_002474.3(MYH11):c.2925G>A (p.Thr975=) rs566872637
NM_002474.3(MYH11):c.2925G>T (p.Thr975=) rs566872637
NM_002474.3(MYH11):c.2958G>A (p.Glu986=)
NM_002474.3(MYH11):c.2961C>A (p.Ile987=)
NM_002474.3(MYH11):c.2997+13C>T
NM_002474.3(MYH11):c.2997+8G>A rs908812750
NM_002474.3(MYH11):c.2998-10C>G rs2151246082
NM_002474.3(MYH11):c.2998-11T>C
NM_002474.3(MYH11):c.2998-13T>C
NM_002474.3(MYH11):c.2998-14C>G
NM_002474.3(MYH11):c.2998-18_2998-17del rs746744616
NM_002474.3(MYH11):c.2998-6A>C
NM_002474.3(MYH11):c.3000A>G (p.Glu1000=) rs2151246069
NM_002474.3(MYH11):c.3001C>A (p.Arg1001=) rs1064795023
NM_002474.3(MYH11):c.3045T>C (p.Leu1015=)
NM_002474.3(MYH11):c.3048A>G (p.Ala1016=)
NM_002474.3(MYH11):c.3090C>T (p.Asn1030=)
NM_002474.3(MYH11):c.3093G>A (p.Lys1031=)
NM_002474.3(MYH11):c.3099A>G (p.Glu1033=) rs1226716845
NM_002474.3(MYH11):c.3111A>T (p.Ser1037=)
NM_002474.3(MYH11):c.3121+20A>T
NM_002474.3(MYH11):c.3122-16dup
NM_002474.3(MYH11):c.3122-19A>G
NM_002474.3(MYH11):c.3124C>A (p.Arg1042=)
NM_002474.3(MYH11):c.312C>T (p.Asn104=)
NM_002474.3(MYH11):c.3162G>A (p.Glu1054=)
NM_002474.3(MYH11):c.3165G>A (p.Lys1055=)
NM_002474.3(MYH11):c.3195C>T (p.Ser1065=) rs202136377
NM_002474.3(MYH11):c.3198C>T (p.Asp1066=) rs757270167
NM_002474.3(MYH11):c.3243C>T (p.Leu1081=)
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=) rs768298662
NM_002474.3(MYH11):c.3255G>C (p.Leu1085=) rs768298662
NM_002474.3(MYH11):c.3258C>G (p.Ala1086=) rs1387518277
NM_002474.3(MYH11):c.3270G>A (p.Glu1090=) rs531222844
NM_002474.3(MYH11):c.3274C>T (p.Leu1092=) rs945042608
NM_002474.3(MYH11):c.3279G>A (p.Gln1093=) rs2041152933
NM_002474.3(MYH11):c.3291C>A (p.Ala1097=) rs147605116
NM_002474.3(MYH11):c.3303T>C (p.Asp1101=) rs1412433159
NM_002474.3(MYH11):c.330C>T (p.Phe110=) rs2151381240
NM_002474.3(MYH11):c.3333G>A (p.Lys1111=)
NM_002474.3(MYH11):c.3342G>A (p.Arg1114=) rs781053281
NM_002474.3(MYH11):c.3379C>T (p.Leu1127=) rs886038854
NM_002474.3(MYH11):c.337C>T (p.Leu113=)
NM_002474.3(MYH11):c.33G>A (p.Glu11=)
NM_002474.3(MYH11):c.3432C>G (p.Leu1144=)
NM_002474.3(MYH11):c.3438G>A (p.Glu1146=) rs912347927
NM_002474.3(MYH11):c.3441G>A (p.Glu1147=) rs1567712736
NM_002474.3(MYH11):c.3444G>A (p.Leu1148=)
NM_002474.3(MYH11):c.345+18C>A
NM_002474.3(MYH11):c.345+9T>G
NM_002474.3(MYH11):c.346-19C>G
NM_002474.3(MYH11):c.3462G>A (p.Glu1154=) rs1555556543
NM_002474.3(MYH11):c.3465G>A (p.Leu1155=) rs201220616
NM_002474.3(MYH11):c.348G>A (p.Thr116=) rs781275376
NM_002474.3(MYH11):c.3506+15A>T
NM_002474.3(MYH11):c.3506+16A>G
NM_002474.3(MYH11):c.3506+8G>A
NM_002474.3(MYH11):c.3506+8G>T rs755459305
NM_002474.3(MYH11):c.3507-17G>A
NM_002474.3(MYH11):c.3507-6A>G
NM_002474.3(MYH11):c.3507-8C>T rs2041004644
NM_002474.3(MYH11):c.3522G>A (p.Gln1174=) rs1274315373
NM_002474.3(MYH11):c.3531G>C (p.Thr1177=)
NM_002474.3(MYH11):c.3534G>A (p.Val1178=) rs1596749050
NM_002474.3(MYH11):c.3561G>T (p.Thr1187=)
NM_002474.3(MYH11):c.3579G>A (p.Gln1193=) rs1251694902
NM_002474.3(MYH11):c.3603C>T (p.His1201=) rs199800922
NM_002474.3(MYH11):c.3606A>G (p.Ala1202=) rs200589185
NM_002474.3(MYH11):c.3612G>T (p.Ala1204=)
NM_002474.3(MYH11):c.3651+20_3651+32del rs768133909
NM_002474.3(MYH11):c.3652-12T>A rs1378688228
NM_002474.3(MYH11):c.3652-7T>G
NM_002474.3(MYH11):c.3660G>T (p.Ala1220=)
NM_002474.3(MYH11):c.3699C>T (p.Asn1233=)
NM_002474.3(MYH11):c.369G>A (p.Val123=)
NM_002474.3(MYH11):c.369G>T (p.Val123=)
NM_002474.3(MYH11):c.3747G>A (p.Glu1249=)
NM_002474.3(MYH11):c.3801G>A (p.Lys1267=)
NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly) rs200012419
NM_002474.3(MYH11):c.381C>G (p.Pro127=) rs765679829
NM_002474.3(MYH11):c.3855G>A (p.Leu1285=)
NM_002474.3(MYH11):c.3858+14G>A rs71376096
NM_002474.3(MYH11):c.3858+15C>T
NM_002474.3(MYH11):c.3858+16G>A rs370164910
NM_002474.3(MYH11):c.3858+18T>C
NM_002474.3(MYH11):c.3858+7A>G rs771648931
NM_002474.3(MYH11):c.3858+9G>A rs2151225101
NM_002474.3(MYH11):c.3859-16C>G
NM_002474.3(MYH11):c.3859-17T>A
NM_002474.3(MYH11):c.3859-7C>T
NM_002474.3(MYH11):c.3859-9C>T
NM_002474.3(MYH11):c.3894G>A (p.Glu1298=)
NM_002474.3(MYH11):c.3897C>A (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.391C>T (p.Leu131=) rs111247524
NM_002474.3(MYH11):c.3933G>T (p.Ala1311=) rs78857360
NM_002474.3(MYH11):c.3960C>T (p.Thr1320=)
NM_002474.3(MYH11):c.3969G>A (p.Leu1323=) rs1180179941
NM_002474.3(MYH11):c.3984C>G (p.Thr1328=) rs1467215674
NM_002474.3(MYH11):c.39C>T (p.Phe13=) rs2151381591
NM_002474.3(MYH11):c.4005T>G (p.Ser1335=) rs2151219438
NM_002474.3(MYH11):c.4012C>T (p.Leu1338=) rs2040663609
NM_002474.3(MYH11):c.4020G>A (p.Gln1340=)
NM_002474.3(MYH11):c.4035G>A (p.Arg1345=) rs1060504019
NM_002474.3(MYH11):c.4035G>C (p.Arg1345=)
NM_002474.3(MYH11):c.4056G>T (p.Leu1352=)
NM_002474.3(MYH11):c.4071G>A (p.Glu1357=)
NM_002474.3(MYH11):c.4083C>T (p.Asn1361=) rs769899465
NM_002474.3(MYH11):c.4086G>A (p.Leu1362=) rs998445950
NM_002474.3(MYH11):c.4092C>G (p.Arg1364=)
NM_002474.3(MYH11):c.4104T>A (p.Thr1368=)
NM_002474.3(MYH11):c.4110C>T (p.Asn1370=) rs756833213
NM_002474.3(MYH11):c.4116+11C>T
NM_002474.3(MYH11):c.4116+13T>G
NM_002474.3(MYH11):c.4116+14del
NM_002474.3(MYH11):c.4116+8C>T
NM_002474.3(MYH11):c.4117-13G>A
NM_002474.3(MYH11):c.4117-20C>G
NM_002474.3(MYH11):c.4117-5T>G
NM_002474.3(MYH11):c.4117-6T>C
NM_002474.3(MYH11):c.4128G>T (p.Ser1376=) rs367595632
NM_002474.3(MYH11):c.4146C>T (p.Asp1382=) rs761097049
NM_002474.3(MYH11):c.414C>T (p.Ile138=)
NM_002474.3(MYH11):c.4179G>C (p.Gly1393=) rs2040638441
NM_002474.3(MYH11):c.4188G>A (p.Arg1396=)
NM_002474.3(MYH11):c.4215C>T (p.Thr1405=)
NM_002474.3(MYH11):c.4227G>A (p.Glu1409=) rs2151218259
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) rs794728676
NM_002474.3(MYH11):c.4365+7G>A
NM_002474.3(MYH11):c.4366-10T>C
NM_002474.3(MYH11):c.4366-18C>G
NM_002474.3(MYH11):c.4374C>G (p.Ala1458=) rs767066866
NM_002474.3(MYH11):c.4413G>A (p.Arg1471=)
NM_002474.3(MYH11):c.4437G>A (p.Arg1479=)
NM_002474.3(MYH11):c.4506C>G (p.Leu1502=)
NM_002474.3(MYH11):c.4510C>A (p.Arg1504=) rs144823441
NM_002474.3(MYH11):c.4512G>T (p.Arg1504=) rs2040481392
NM_002474.3(MYH11):c.4527C>G (p.Leu1509=)
NM_002474.3(MYH11):c.4533C>G (p.Ala1511=) rs181548582
NM_002474.3(MYH11):c.4546C>T (p.Leu1516=) rs2151210506
NM_002474.3(MYH11):c.4554C>T (p.Ser1518=)
NM_002474.3(MYH11):c.4557C>T (p.Ser1519=)
NM_002474.3(MYH11):c.4578+17G>A
NM_002474.3(MYH11):c.4609C>T (p.Leu1537=)
NM_002474.3(MYH11):c.4629G>A (p.Glu1543=)
NM_002474.3(MYH11):c.4690C>A (p.Arg1564=) rs756121642
NM_002474.3(MYH11):c.4701C>T (p.Val1567=) rs2151208574
NM_002474.3(MYH11):c.4713G>A (p.Ala1571=)
NM_002474.3(MYH11):c.4713G>C (p.Ala1571=) rs141198584
NM_002474.3(MYH11):c.4728C>T (p.Phe1576=) rs765435868
NM_002474.3(MYH11):c.4734G>A (p.Arg1578=) rs2151208466
NM_002474.3(MYH11):c.4740C>G (p.Leu1580=)
NM_002474.3(MYH11):c.4752C>T (p.Asp1584=) rs759031841
NM_002474.3(MYH11):c.4776G>A (p.Arg1592=) rs1242667613
NM_002474.3(MYH11):c.4791+11C>G
NM_002474.3(MYH11):c.4791+12C>T
NM_002474.3(MYH11):c.4791+14G>C
NM_002474.3(MYH11):c.4792-13A>G
NM_002474.3(MYH11):c.4792-17C>T
NM_002474.3(MYH11):c.4792-17CT[3]
NM_002474.3(MYH11):c.4792-20C>G
NM_002474.3(MYH11):c.480G>A (p.Thr160=) rs544644151
NM_002474.3(MYH11):c.4825C>A (p.Arg1609=) rs1055960218
NM_002474.3(MYH11):c.4840C>T (p.Leu1614=) rs1478085690
NM_002474.3(MYH11):c.4842G>A (p.Leu1614=) rs2151206445
NM_002474.3(MYH11):c.4848T>C (p.Ala1616=) rs549933627
NM_002474.3(MYH11):c.486C>T (p.Tyr162=)
NM_002474.3(MYH11):c.4885C>T (p.Leu1629=)
NM_002474.3(MYH11):c.4890G>A (p.Glu1630=) rs571540776
NM_002474.3(MYH11):c.4923G>A (p.Glu1641=) rs184422383
NM_002474.3(MYH11):c.4935G>A (p.Lys1645=) rs2040390157
NM_002474.3(MYH11):c.4944C>T (p.Arg1648=) rs2151206085
NM_002474.3(MYH11):c.4953+11C>G
NM_002474.3(MYH11):c.4953+14G>A
NM_002474.3(MYH11):c.4953+17G>C
NM_002474.3(MYH11):c.4953+19T>G
NM_002474.3(MYH11):c.4953+7G>A
NM_002474.3(MYH11):c.4954-10A>G
NM_002474.3(MYH11):c.4954-11G>A
NM_002474.3(MYH11):c.4954-17_4954-7dup
NM_002474.3(MYH11):c.4954-5T>C
NM_002474.3(MYH11):c.5013C>A (p.Ile1671=)
NM_002474.3(MYH11):c.502+19G>A
NM_002474.3(MYH11):c.503-13T>C
NM_002474.3(MYH11):c.5052C>T (p.Ser1684=) rs760908992
NM_002474.3(MYH11):c.5058A>G (p.Glu1686=)
NM_002474.3(MYH11):c.5061A>C (p.Ala1687=)
NM_002474.3(MYH11):c.5073G>A (p.Gln1691=)
NM_002474.3(MYH11):c.5082+10C>A
NM_002474.3(MYH11):c.5082+16G>C
NM_002474.3(MYH11):c.5083-18T>C
NM_002474.3(MYH11):c.5083-4C>G
NM_002474.3(MYH11):c.5083-4C>T
NM_002474.3(MYH11):c.5083-7_5083-4del
NM_002474.3(MYH11):c.5097T>G (p.Ala1699=)
NM_002474.3(MYH11):c.5118G>A (p.Ala1706=) rs147582612
NM_002474.3(MYH11):c.5118G>T (p.Ala1706=) rs147582612
NM_002474.3(MYH11):c.5124C>G (p.Leu1708=)
NM_002474.3(MYH11):c.5130G>A (p.Lys1710=) rs2151203465
NM_002474.3(MYH11):c.513C>T (p.Asp171=)
NM_002474.3(MYH11):c.5142A>G (p.Ala1714=)
NM_002474.3(MYH11):c.5161C>T (p.Leu1721=)
NM_002474.3(MYH11):c.5163G>A (p.Leu1721=)
NM_002474.3(MYH11):c.5163G>T (p.Leu1721=) rs777919235
NM_002474.3(MYH11):c.5171+11G>A
NM_002474.3(MYH11):c.5171+12_5171+15del
NM_002474.3(MYH11):c.5171+15G>A
NM_002474.3(MYH11):c.5171+16G>A
NM_002474.3(MYH11):c.5171+16_5171+19del
NM_002474.3(MYH11):c.5171+7A>C
NM_002474.3(MYH11):c.5172-15C>A
NM_002474.3(MYH11):c.5172-20C>T
NM_002474.3(MYH11):c.5193G>A (p.Lys1731=)
NM_002474.3(MYH11):c.5214C>A (p.Ile1738=)
NM_002474.3(MYH11):c.5232G>A (p.Glu1744=) rs1596709576
NM_002474.3(MYH11):c.5238G>A (p.Glu1746=) rs1567689895
NM_002474.3(MYH11):c.5253C>T (p.Asn1751=) rs1039451380
NM_002474.3(MYH11):c.5268C>T (p.Ser1756=)
NM_002474.3(MYH11):c.5280C>A (p.Arg1760=)
NM_002474.3(MYH11):c.5286C>T (p.Ala1762=) rs2151201141
NM_002474.3(MYH11):c.5289A>G (p.Thr1763=) rs776233378
NM_002474.3(MYH11):c.5295+17C>T
NM_002474.3(MYH11):c.5295+9C>A
NM_002474.3(MYH11):c.5296-15C>T
NM_002474.3(MYH11):c.5296-17T>C
NM_002474.3(MYH11):c.5296-20G>A
NM_002474.3(MYH11):c.5296-7T>C
NM_002474.3(MYH11):c.5298C>G (p.Ala1766=) rs753482794
NM_002474.3(MYH11):c.530+10A>G
NM_002474.3(MYH11):c.530+11_530+17dup
NM_002474.3(MYH11):c.530+15T>C
NM_002474.3(MYH11):c.530+18T>C
NM_002474.3(MYH11):c.531-12C>T
NM_002474.3(MYH11):c.531-20G>A rs1596836699
NM_002474.3(MYH11):c.531-9G>A rs758048924
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5346G>A (p.Lys1782=) rs375743675
NM_002474.3(MYH11):c.5355T>C (p.Ser1785=)
NM_002474.3(MYH11):c.5367G>A (p.Gln1789=) rs748787897
NM_002474.3(MYH11):c.5373G>A (p.Glu1791=) rs2151198297
NM_002474.3(MYH11):c.5374C>A (p.Arg1792=)
NM_002474.3(MYH11):c.5385G>A (p.Lys1795=)
NM_002474.3(MYH11):c.5403C>T (p.Leu1801=)
NM_002474.3(MYH11):c.5406C>T (p.His1802=) rs746211825
NM_002474.3(MYH11):c.5421C>G (p.Ala1807=) rs145857508
NM_002474.3(MYH11):c.5454G>C (p.Ala1818=) rs374486989
NM_002474.3(MYH11):c.5481G>A (p.Glu1827=) rs1462236605
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) rs553162576
NM_002474.3(MYH11):c.5499G>A (p.Glu1833=)
NM_002474.3(MYH11):c.549G>A (p.Gly183=) rs1481865620
NM_002474.3(MYH11):c.549G>C (p.Gly183=)
NM_002474.3(MYH11):c.5504+11G>A
NM_002474.3(MYH11):c.5504+19C>T
NM_002474.3(MYH11):c.5517G>C (p.Ala1839=) rs28505375
NM_002474.3(MYH11):c.555C>T (p.Thr185=) rs1266756941
NM_002474.3(MYH11):c.5562C>A (p.Ile1854=)
NM_002474.3(MYH11):c.5598G>A (p.Glu1866=)
NM_002474.3(MYH11):c.5613+18G>C
NM_002474.3(MYH11):c.5613+19C>G
NM_002474.3(MYH11):c.5614-20C>G
NM_002474.3(MYH11):c.5614-5G>C
NM_002474.3(MYH11):c.5619G>A (p.Glu1873=) rs762821036
NM_002474.3(MYH11):c.5637C>T (p.Val1879=) rs2040044641
NM_002474.3(MYH11):c.5670G>A (p.Glu1890=) rs1246060293
NM_002474.3(MYH11):c.5673G>A (p.Glu1891=) rs2151192125
NM_002474.3(MYH11):c.5682G>A (p.Gln1894=) rs2151192089
NM_002474.3(MYH11):c.5700C>T (p.Arg1900=)
NM_002474.3(MYH11):c.5724T>C (p.Asp1908=) rs2151191997
NM_002474.3(MYH11):c.5736G>A (p.Glu1912=) rs1331907008
NM_002474.3(MYH11):c.573C>A (p.Val191=) rs763981310
NM_002474.3(MYH11):c.5748C>T (p.Ala1916=)
NM_002474.3(MYH11):c.5784C>T (p.Leu1928=)
NM_002474.3(MYH11):c.5786+12G>C
NM_002474.3(MYH11):c.5786+17C>T
NM_002474.3(MYH11):c.5786+19G>A
NM_002474.3(MYH11):c.5786+19G>C
NM_002474.3(MYH11):c.582C>T (p.Tyr194=)
NM_002474.3(MYH11):c.583C>T (p.Leu195=) rs1596836541
NM_002474.3(MYH11):c.630C>T (p.Ile210=) rs2151307303
NM_002474.3(MYH11):c.633+12T>G
NM_002474.3(MYH11):c.633+1894T>C
NM_002474.3(MYH11):c.633+1894T>G
NM_002474.3(MYH11):c.633+1897G>A
NM_002474.3(MYH11):c.633+18A>G
NM_002474.3(MYH11):c.634-15G>A
NM_002474.3(MYH11):c.634-17A>C
NM_002474.3(MYH11):c.639G>A (p.Glu213=) rs1349541623
NM_002474.3(MYH11):c.678G>A (p.Glu226=)
NM_002474.3(MYH11):c.699A>G (p.Thr233=)
NM_002474.3(MYH11):c.6G>T (p.Ala2=) rs762011909
NM_002474.3(MYH11):c.721C>A (p.Arg241=) rs112895882
NM_002474.3(MYH11):c.726+19T>C rs1596828927
NM_002474.3(MYH11):c.727-20C>T
NM_002474.3(MYH11):c.727-4G>A rs2151299084
NM_002474.3(MYH11):c.729C>A (p.Gly243=)
NM_002474.3(MYH11):c.72A>G (p.Pro24=) rs1180093092
NM_002474.3(MYH11):c.741C>T (p.Arg247=) rs2151299059
NM_002474.3(MYH11):c.790+11C>T
NM_002474.3(MYH11):c.790+18C>A
NM_002474.3(MYH11):c.790+20G>T
NM_002474.3(MYH11):c.791-13C>A
NM_002474.3(MYH11):c.791-6A>C
NM_002474.3(MYH11):c.810G>A (p.Arg270=) rs2151296154
NM_002474.3(MYH11):c.840A>T (p.Thr280=) rs376999218
NM_002474.3(MYH11):c.846C>T (p.His282=) rs779250750
NM_002474.3(MYH11):c.849C>A (p.Ile283=) rs756799858
NM_002474.3(MYH11):c.867T>C (p.Ala289=) rs2151296074
NM_002474.3(MYH11):c.873C>G (p.Ala291=) rs2042214771
NM_002474.3(MYH11):c.889+16T>A
NM_002474.3(MYH11):c.889+20A>G
NM_002474.3(MYH11):c.890-12C>G
NM_002474.3(MYH11):c.890-13C>T rs757766831
NM_002474.3(MYH11):c.890-20C>T
NM_002474.3(MYH11):c.890-5_890-3del
NM_002474.3(MYH11):c.890-8C>T
NM_002474.3(MYH11):c.890-9T>C
NM_002474.3(MYH11):c.912C>T (p.Phe304=) rs1060504022
NM_002474.3(MYH11):c.918C>T (p.Asn306=) rs2151291413
NM_002474.3(MYH11):c.93C>T (p.Ala31=) rs754808294
NM_002474.3(MYH11):c.990G>A (p.Val330=)
NM_017668.3(NDE1):c.*553A>G rs2151219534
NM_017668.3(NDE1):c.*627G>C rs2151219775
NM_017668.3(NDE1):c.*630C>G rs2040672480
NM_017668.3(NDE1):c.1002C>T (p.Ser334=) rs1060504021
NM_017668.3(NDE1):c.947+11988_947+11991del rs2039615251
NM_017668.3(NDE1):c.947+11989AG[2] rs747642850
NM_017668.3(NDE1):c.947+11989AG[3] rs747642850
NM_017668.3(NDE1):c.947+12001C>A rs2039617018
NM_017668.3(NDE1):c.948-2779A>G rs1397405569
NM_017668.3(NDE1):c.948-3129A>G rs1378031468
NM_017668.3(NDE1):c.948-3869G>A rs1432532960
NM_017668.3(NDE1):c.948-3873C>T rs766965358
NM_017668.3(NDE1):c.948-4460_948-4457del rs766943222
NM_017668.3(NDE1):c.948-4626C>T rs527381094
NM_017668.3(NDE1):c.948-5743G>C rs757411784
NM_017668.3(NDE1):c.948-5885G>A rs199798923
NM_017668.3(NDE1):c.948-7058C>A rs529718944
NM_017668.3(NDE1):c.948-7058C>T rs529718944
NM_017668.3(NDE1):c.948-7060C>T rs1391739007
NM_017668.3(NDE1):c.948-7071G>A rs901538484
NM_017668.3(NDE1):c.948-9289T>C rs2151191747
NM_017668.3(NDE1):c.948-9292_948-9291insT rs2151191722
NM_017668.3(NDE1):c.963C>T (p.Cys321=) rs2040628706
NM_017668.3(NDE1):c.975C>T (p.Ser325=) rs761273646

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