ClinVar Miner

List of variants in gene MYH11, NDE1 studied for Aortic aneurysm, familial thoracic 4

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Total variants: 799
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.*202G>A rs11130 0.47916
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_017668.3(NDE1):c.948-4837G>T rs11646134 0.41007
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) rs16967494 0.21955
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_017668.3(NDE1):c.*947G>A rs760023 0.09015
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_017668.3(NDE1):c.*913A>C rs760024 0.08447
NM_017668.3(NDE1):c.*1299A>G rs16967500 0.08018
NM_017668.3(NDE1):c.*1220G>A rs74009414 0.08006
NM_017668.3(NDE1):c.*1389G>A rs11557090 0.07983
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_017668.3(NDE1):c.*1723C>T rs73519694 0.06691
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_017668.3(NDE1):c.947+6711G>C rs12932063 0.03681
NM_017668.3(NDE1):c.948-5739G>A rs34839877 0.03595
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) rs35295469 0.03116
NM_017668.3(NDE1):c.947+7126G>C rs1875184 0.02929
NM_017668.3(NDE1):c.947+6587C>T rs116721094 0.01717
NM_017668.3(NDE1):c.*1784A>G rs113405225 0.01698
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_017668.3(NDE1):c.947+6500G>A rs112926446 0.00650
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_017668.3(NDE1):c.948-7059C>G rs148691719 0.00511
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_017668.3(NDE1):c.*1509A>G rs140080894 0.00221
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.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) rs114556043 0.00093
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_017668.3(NDE1):c.*312C>T rs527245682 0.00061
NM_017668.3(NDE1):c.947+6903A>G rs558010405 0.00061
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) rs760611400 0.00057
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) rs143620567 0.00050
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_017668.3(NDE1):c.947+7094G>T rs182768107 0.00041
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
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_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
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.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_017668.3(NDE1):c.*1952A>C rs564739542 0.00026
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
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_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
NM_017668.3(NDE1):c.947+6521C>T rs189033300 0.00019
NM_017668.3(NDE1):c.947+6531C>A rs370591283 0.00019
NM_017668.3(NDE1):c.947+6827G>A rs772019498 0.00019
NM_017668.3(NDE1):c.948-3368C>A rs189463893 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
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_017668.3(NDE1):c.948-5886C>T rs368366419 0.00015
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.4034G>A (p.Arg1345Gln) rs150883363 0.00013
NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys) rs777768672 0.00013
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 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.4095C>T (p.His1365=) rs374454281 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_017668.3(NDE1):c.948-40C>T rs142707175 0.00011
NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met) rs753685135 0.00010
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) rs752996609 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 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.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_017668.3(NDE1):c.*1571A>G rs564847648 0.00009
NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) rs553877450 0.00008
NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) rs145074004 0.00008
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_017668.3(NDE1):c.948-4052A>G rs201595239 0.00008
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_002474.3(MYH11):c.5886C>T (p.Asp1962=) rs140789717 0.00007
NM_017668.3(NDE1):c.948-6832G>A rs780765461 0.00007
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.4096A>G (p.Ile1366Val) rs147127121 0.00006
NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val) rs200391659 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_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) rs139418145 0.00006
NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) rs369950711 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_017668.3(NDE1):c.948-5750G>A rs979879255 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) rs373815046 0.00005
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) rs747923542 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) rs201754049 0.00005
NM_002474.3(MYH11):c.5430C>T (p.Ser1810=) rs528569286 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu) rs754183610 0.00004
NM_002474.3(MYH11):c.4008G>A (p.Thr1336=) rs749476388 0.00004
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002474.3(MYH11):c.4236G>A (p.Ala1412=) rs771460474 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 0.00004
NM_002474.3(MYH11):c.4638G>A (p.Thr1546=) rs141314621 0.00004
NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) rs777170587 0.00004
NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) rs549820613 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.5616A>G (p.Ala1872=) rs1328469024 0.00004
NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) rs146391904 0.00004
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) rs571504063 0.00004
NM_017668.3(NDE1):c.*631A>G rs373371913 0.00004
NM_017668.3(NDE1):c.947+6524C>T rs1308010477 0.00004
NM_017668.3(NDE1):c.948-9300G>A rs769309834 0.00004
NM_017668.3(NDE1):c.956C>T (p.Thr319Met) rs141262029 0.00004
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) rs763467593 0.00004
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=) rs373899395 0.00003
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) rs775154820 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.4835G>A (p.Arg1612His) rs781252922 0.00003
NM_002474.3(MYH11):c.4899C>A (p.Ala1633=) rs760584464 0.00003
NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln) rs375607145 0.00003
NM_002474.3(MYH11):c.5064C>T (p.Asp1688=) rs751375975 0.00003
NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) rs187172581 0.00003
NM_002474.3(MYH11):c.5108G>A (p.Arg1703His) rs890856227 0.00003
NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) rs145101141 0.00003
NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp) rs371581038 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922 0.00003
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) rs150860193 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002474.3(MYH11):c.5733G>A (p.Thr1911=) rs372173243 0.00003
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) rs886051736 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.948-3357C>T rs376779423 0.00003
NM_017668.3(NDE1):c.948-4980G>A rs780145425 0.00003
NM_017668.3(NDE1):c.948-7057G>T rs371348553 0.00003
NM_017668.3(NDE1):c.948-9104G>A rs200522079 0.00003
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) rs794728668 0.00003
NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) rs778350253 0.00002
NM_002474.3(MYH11):c.3894G>C (p.Glu1298Asp) rs1028035825 0.00002
NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn) rs778284314 0.00002
NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) rs374271463 0.00002
NM_002474.3(MYH11):c.4059C>T (p.Asp1353=) rs753575083 0.00002
NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) rs143467011 0.00002
NM_002474.3(MYH11):c.4140G>C (p.Leu1380=) rs1288382755 0.00002
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met) rs773946923 0.00002
NM_002474.3(MYH11):c.4187G>A (p.Arg1396Lys) rs755794886 0.00002
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=) rs1346896885 0.00002
NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys) rs758102556 0.00002
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=) rs754931029 0.00002
NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) rs748356212 0.00002
NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) rs369409348 0.00002
NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) rs762733113 0.00002
NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) rs768569707 0.00002
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu) rs566447086 0.00002
NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met) rs571517980 0.00002
NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) rs756025504 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.5375G>A (p.Arg1792Gln) rs751495086 0.00002
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) rs764219360 0.00002
NM_002474.3(MYH11):c.5451G>A (p.Ala1817=) rs774717188 0.00002
NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys) rs757542362 0.00002
NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr) rs1355377006 0.00002
NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) rs1443593366 0.00002
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys) rs757099566 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) rs764375446 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.948-6840G>C rs370866058 0.00002
NM_017668.3(NDE1):c.948-9294C>T rs748529228 0.00002
NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys) rs765457680 0.00001
NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) rs761957202 0.00001
NM_002474.3(MYH11):c.3865G>C (p.Val1289Leu) rs1264354643 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.3892G>A (p.Glu1298Lys) rs780157741 0.00001
NM_002474.3(MYH11):c.3895G>A (p.Ala1299Thr) rs1388360113 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.3934T>C (p.Ser1312Pro) rs766001513 0.00001
NM_002474.3(MYH11):c.3935C>T (p.Ser1312Phe) rs1596732730 0.00001
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln) rs761662427 0.00001
NM_002474.3(MYH11):c.3999C>T (p.Asn1333=) rs768465413 0.00001
NM_002474.3(MYH11):c.4000G>C (p.Val1334Leu) rs139377348 0.00001
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746 0.00001
NM_002474.3(MYH11):c.4032G>A (p.Glu1344=) rs1036466264 0.00001
NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys) rs764136209 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) rs769227102 0.00001
NM_002474.3(MYH11):c.4094A>G (p.His1365Arg) rs138730904 0.00001
NM_002474.3(MYH11):c.4121C>T (p.Ser1374Phe) rs1401689647 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.4200G>T (p.Glu1400Asp) rs754997732 0.00001
NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys) rs760096354 0.00001
NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser) rs1025147024 0.00001
NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln) rs567729923 0.00001
NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser) rs151112745 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.4418G>T (p.Arg1473Ile) rs758663266 0.00001
NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) rs367746199 0.00001
NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys) rs375969176 0.00001
NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp) rs144823441 0.00001
NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln) rs769614526 0.00001
NM_002474.3(MYH11):c.4515C>G (p.Thr1505=) rs140395834 0.00001
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) rs200909802 0.00001
NM_002474.3(MYH11):c.4590G>A (p.Leu1530=) rs2040445031 0.00001
NM_002474.3(MYH11):c.4602G>A (p.Lys1534=) rs777186791 0.00001
NM_002474.3(MYH11):c.4613A>T (p.Glu1538Val) rs1343964791 0.00001
NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val) rs374952057 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.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) rs747434041 0.00001
NM_002474.3(MYH11):c.4668A>C (p.Gln1556His) rs148275462 0.00001
NM_002474.3(MYH11):c.4674G>A (p.Thr1558=) rs778499852 0.00001
NM_002474.3(MYH11):c.4685A>G (p.Lys1562Arg) rs1019265305 0.00001
NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) rs765435868 0.00001
NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) rs761965886 0.00001
NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) rs775908168 0.00001
NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) rs794728680 0.00001
NM_002474.3(MYH11):c.4758G>C (p.Gln1586His) rs1354578485 0.00001
NM_002474.3(MYH11):c.4761T>C (p.Asn1587=) rs376132003 0.00001
NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.4797C>T (p.His1599=) rs764996278 0.00001
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met) rs376105806 0.00001
NM_002474.3(MYH11):c.4815G>A (p.Leu1605=) rs1401043343 0.00001
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) rs190316422 0.00001
NM_002474.3(MYH11):c.4850C>T (p.Ala1617Val) rs767053316 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.4888G>C (p.Glu1630Gln) rs1555551728 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) rs1060500728 0.00001
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) rs199638486 0.00001
NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) rs886051740 0.00001
NM_002474.3(MYH11):c.4943G>A (p.Arg1648His) rs750912363 0.00001
NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) rs756832190 0.00001
NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe) rs754570649 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.5089G>A (p.Ala1697Thr) rs538145374 0.00001
NM_002474.3(MYH11):c.5091C>T (p.Ala1697=) rs996178983 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5124C>T (p.Leu1708=) rs777163903 0.00001
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr) rs1344059916 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.5197C>T (p.Arg1733Cys) rs1335030890 0.00001
NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) rs148433586 0.00001
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) rs794729642 0.00001
NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys) rs764794087 0.00001
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) rs761727438 0.00001
NM_002474.3(MYH11):c.5322C>T (p.Ala1774=) rs759322440 0.00001
NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) rs1041344233 0.00001
NM_002474.3(MYH11):c.5356G>A (p.Ala1786Thr) rs779452783 0.00001
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp) rs1364355866 0.00001
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) rs776016983 0.00001
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr) rs1485890422 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002474.3(MYH11):c.5424C>G (p.Val1808=) rs754800330 0.00001
NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.5448C>T (p.Ile1816=) rs201308235 0.00001
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val) rs771343446 0.00001
NM_002474.3(MYH11):c.5484G>A (p.Glu1828=) rs1372132646 0.00001
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) rs1005977032 0.00001
NM_002474.3(MYH11):c.5490C>T (p.Val1830=) rs770582589 0.00001
NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr) rs759734157 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.5586C>G (p.Arg1862=) rs542765381 0.00001
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) rs373369803 0.00001
NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys) rs769802444 0.00001
NM_002474.3(MYH11):c.5641C>A (p.Gln1881Lys) rs745941067 0.00001
NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr) rs1363749589 0.00001
NM_002474.3(MYH11):c.5713C>A (p.Arg1905=) rs749422717 0.00001
NM_002474.3(MYH11):c.5728G>A (p.Ala1910Thr) rs770320526 0.00001
NM_002474.3(MYH11):c.5756G>A (p.Arg1919His) rs1284202501 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_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.947+6327G>A rs886051727 0.00001
NM_017668.3(NDE1):c.947+6742G>C rs886051734 0.00001
NM_017668.3(NDE1):c.947+6757G>C rs1245104107 0.00001
NM_017668.3(NDE1):c.947+7070T>G rs1555546983 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.948-36C>T rs530881888 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.948-5748G>A rs574893374 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.948-9288C>G rs766417351 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.973T>C (p.Ser325Pro) rs919816656 0.00001
NM_017668.3(NDE1):c.987C>T (p.Thr329=) rs373591888 0.00001
NM_017668.3(NDE1):c.998G>C (p.Ser333Thr) rs753916027 0.00001
NC_000016.9:g.(?_15795992)_(15951887_?)dup
NC_000016.9:g.(?_15802658)_(15802708_?)del
NC_000016.9:g.(?_15802668)_(15917288_?)dup
NC_000016.9:g.(?_15802668)_(15932109_?)del
NC_000016.9:g.(?_15802668)_(15932109_?)dup
NC_000016.9:g.(?_15808746)_(15818869_?)del
NC_000016.9:g.(?_15808760)_(15932115_?)dup
NM_001040113.2(MYH11):c.5808-3_5808-2del
NM_001040113.2(MYH11):c.5812C>G (p.Pro1938Ala) rs2039614500
NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg) rs765030635
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu) rs765030635
NM_001040113.2(MYH11):c.5814C>A (p.Pro1938=) rs1596675342
NM_001040113.2(MYH11):c.5815C>T (p.Pro1939Ser)
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.5818C>T (p.Pro1940Ser) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) rs111588143
NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) rs1596675237
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs) rs2039612615
NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile) rs2151173196
NM_001040113.2(MYH11):c.5832G>C (p.Ser1944=)
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.3863A>C (p.Glu1288Ala)
NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg) rs140339691
NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002474.3(MYH11):c.3894G>A (p.Glu1298=)
NM_002474.3(MYH11):c.3897C>A (p.Ala1299=) rs190546350
NM_002474.3(MYH11):c.3933G>T (p.Ala1311=) rs78857360
NM_002474.3(MYH11):c.3960C>T (p.Thr1320=)
NM_002474.3(MYH11):c.3963+1G>C rs2151219802
NM_002474.3(MYH11):c.3963+1G>T
NM_002474.3(MYH11):c.3963+2T>C rs111325146
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.3985C>T (p.Arg1329Trp)
NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu) rs139377348
NM_002474.3(MYH11):c.4001T>C (p.Val1334Ala) rs2040664317
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.4015C>T (p.Arg1339Cys) rs754951425
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.4039A>G (p.Ser1347Gly) rs2151219347
NM_002474.3(MYH11):c.4051C>A (p.Gln1351Lys)
NM_002474.3(MYH11):c.4056G>T (p.Leu1352=)
NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu) rs753575083
NM_002474.3(MYH11):c.4061A>T (p.Glu1354Val)
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.4089G>T (p.Glu1363Asp) rs748585013
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
NM_002474.3(MYH11):c.4092C>G (p.Arg1364=)
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) rs147127121
NM_002474.3(MYH11):c.4104T>A (p.Thr1368=)
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg) rs2040657857
NM_002474.3(MYH11):c.4110C>T (p.Asn1370=) rs756833213
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu)
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+1del rs2151219190
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.4150G>A (p.Ala1384Thr) rs775802674
NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro)
NM_002474.3(MYH11):c.4174G>C (p.Glu1392Gln)
NM_002474.3(MYH11):c.4179G>C (p.Gly1393=) rs2040638441
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)
NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg) rs1468559687
NM_002474.3(MYH11):c.4186A>G (p.Arg1396Gly)
NM_002474.3(MYH11):c.4188G>A (p.Arg1396=)
NM_002474.3(MYH11):c.4202T>A (p.Ile1401Asn)
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr) rs765373729
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.4241_4242delinsTG (p.Ala1414Val) rs2040634438
NM_002474.3(MYH11):c.4251A>T (p.Lys1417Asn)
NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln) rs2040633481
NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys) rs990642038
NM_002474.3(MYH11):c.4283A>G (p.Glu1428Gly)
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn)
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)
NM_002474.3(MYH11):c.4324C>G (p.Leu1442Val)
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.4379A>G (p.Glu1460Gly)
NM_002474.3(MYH11):c.4390T>G (p.Ser1464Ala)
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) rs749181134
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) rs8046180
NM_002474.3(MYH11):c.4404G>A (p.Ala1468=)
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu) rs901607947
NM_002474.3(MYH11):c.4413G>A (p.Arg1471=)
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) rs886051741
NM_002474.3(MYH11):c.4421C>T (p.Ala1474Val)
NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly) rs886039156
NM_002474.3(MYH11):c.4437G>A (p.Arg1479=)
NM_002474.3(MYH11):c.4438G>C (p.Glu1480Gln) rs864622710
NM_002474.3(MYH11):c.4440G>T (p.Glu1480Asp) rs2151210905
NM_002474.3(MYH11):c.4448C>A (p.Thr1483Asn)
NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del) rs1555552158
NM_002474.3(MYH11):c.4460C>G (p.Ser1487Cys) rs1596721430
NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr)
NM_002474.3(MYH11):c.4469G>A (p.Arg1490Gln)
NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp) rs755712100
NM_002474.3(MYH11):c.4484C>T (p.Ala1495Val) rs907051668
NM_002474.3(MYH11):c.4506C>G (p.Leu1502=)
NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys) rs766093291
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.4517A>G (p.Asn1506Ser) rs1060500727
NM_002474.3(MYH11):c.4527C>G (p.Leu1509=)
NM_002474.3(MYH11):c.4533C>G (p.Ala1511=) rs181548582
NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys) rs1596721070
NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys) rs794728669
NM_002474.3(MYH11):c.4546C>A (p.Leu1516Met)
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.4567G>A (p.Val1523Met)
NM_002474.3(MYH11):c.4575G>T (p.Lys1525Asn)
NM_002474.3(MYH11):c.4578+17G>A
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.4578+1del
NM_002474.3(MYH11):c.4578+6T>A
NM_002474.3(MYH11):c.4578C>T (p.Asn1526=) rs1186932787
NM_002474.3(MYH11):c.4579-24_4579-16dup
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) rs748529935
NM_002474.3(MYH11):c.4609C>T (p.Leu1537=)
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala) rs1343964791
NM_002474.3(MYH11):c.4629G>A (p.Glu1543=)
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn) rs2151208733
NM_002474.3(MYH11):c.4661_4681del (p.Glu1554_Asp1560del) rs1555551958
NM_002474.3(MYH11):c.4661_4681dup (p.Glu1554_Asp1560dup) rs1555551958
NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) rs202231621
NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr) rs2040439329
NM_002474.3(MYH11):c.4679A>G (p.Asp1560Gly)
NM_002474.3(MYH11):c.4685A>T (p.Lys1562Ile)
NM_002474.3(MYH11):c.4686A>C (p.Lys1562Asn)
NM_002474.3(MYH11):c.4690C>A (p.Arg1564=) rs756121642
NM_002474.3(MYH11):c.4691G>T (p.Arg1564Leu)
NM_002474.3(MYH11):c.4701C>T (p.Val1567=) rs2151208574
NM_002474.3(MYH11):c.4712C>T (p.Ala1571Val)
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.4733G>A (p.Arg1578Lys)
NM_002474.3(MYH11):c.4734G>A (p.Arg1578=) rs2151208466
NM_002474.3(MYH11):c.4740C>G (p.Leu1580=)
NM_002474.3(MYH11):c.4745C>A (p.Ala1582Asp)
NM_002474.3(MYH11):c.4752C>T (p.Asp1584=) rs759031841
NM_002474.3(MYH11):c.4761T>G (p.Asn1587Lys) rs376132003
NM_002474.3(MYH11):c.4776G>A (p.Arg1592=) rs1242667613
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly) rs754931029
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.4791+16_4791+17delinsAG
NM_002474.3(MYH11):c.4791+4C>G
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.4799A>G (p.Glu1600Gly)
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
NM_002474.3(MYH11):c.4821C>A (p.Asp1607Glu) rs749424185
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
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.4846G>C (p.Ala1616Pro)
NM_002474.3(MYH11):c.4848T>C (p.Ala1616=) rs549933627
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) rs755547393
NM_002474.3(MYH11):c.4873G>C (p.Asp1625His) rs2040394548
NM_002474.3(MYH11):c.4879A>G (p.Lys1627Glu) rs2040394221
NM_002474.3(MYH11):c.4885C>T (p.Leu1629=)
NM_002474.3(MYH11):c.4890G>A (p.Glu1630=) rs571540776
NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp) rs571540776
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro) rs376331652
NM_002474.3(MYH11):c.4914G>T (p.Lys1638Asn)
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.4965G>T (p.Lys1655Asn)
NM_002474.3(MYH11):c.4988A>T (p.Asp1663Val) rs538137003
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His) rs144813247
NM_002474.3(MYH11):c.5000C>G (p.Ser1667Cys) rs1345711998
NM_002474.3(MYH11):c.5003G>C (p.Arg1668Thr)
NM_002474.3(MYH11):c.5009A>C (p.Glu1670Ala) rs2040361619
NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) rs2040361516
NM_002474.3(MYH11):c.5013C>A (p.Ile1671=)
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5031G>C (p.Glu1677Asp)
NM_002474.3(MYH11):c.5041A>C (p.Lys1681Gln)
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
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.5069T>C (p.Met1690Thr) rs1277876461
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.5083-1G>A rs1596712899
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.5101_5102del (p.Arg1701fs)
NM_002474.3(MYH11):c.5102G>A (p.Arg1701Lys)
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) rs201108170
NM_002474.3(MYH11):c.5114A>C (p.Gln1705Pro) rs2040338321
NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val)
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.5142A>G (p.Ala1714=)
NM_002474.3(MYH11):c.5143G>C (p.Glu1715Gln)
NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met)
NM_002474.3(MYH11):c.5155A>C (p.Ser1719Arg) rs2040335841
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+2T>C
NM_002474.3(MYH11):c.5171+3A>G
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.5188G>T (p.Glu1730Ter) rs766136761
NM_002474.3(MYH11):c.5192A>C (p.Lys1731Thr)
NM_002474.3(MYH11):c.5193G>A (p.Lys1731=)
NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp) rs772907739
NM_002474.3(MYH11):c.5214C>A (p.Ile1738=)
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr) rs1029371842
NM_002474.3(MYH11):c.5215G>C (p.Ala1739Pro)
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) rs777249764
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) rs777249764
NM_002474.3(MYH11):c.5224G>C (p.Glu1742Gln) rs769680879
NM_002474.3(MYH11):c.5224GAG[2] (p.Glu1744del) rs1224659472
NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly) rs747864632
NM_002474.3(MYH11):c.5232G>A (p.Glu1744=) rs1596709576
NM_002474.3(MYH11):c.5236GAG[2] (p.Glu1748del) rs748859355
NM_002474.3(MYH11):c.5238G>A (p.Glu1746=) rs1567689895
NM_002474.3(MYH11):c.5252A>T (p.Asn1751Ile) rs149245873
NM_002474.3(MYH11):c.5253C>T (p.Asn1751=) rs1039451380
NM_002474.3(MYH11):c.5257G>C (p.Glu1753Gln) rs2040280173
NM_002474.3(MYH11):c.5261C>A (p.Ala1754Asp)
NM_002474.3(MYH11):c.5268C>T (p.Ser1756=)
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His)
NM_002474.3(MYH11):c.5280C>A (p.Arg1760=)
NM_002474.3(MYH11):c.5284G>A (p.Ala1762Thr) rs142824472
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+1G>C
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.5296-17_5340dup
NM_002474.3(MYH11):c.5296-20G>A
NM_002474.3(MYH11):c.5296-7T>C
NM_002474.3(MYH11):c.5296G>A (p.Ala1766Thr) rs2151198532
NM_002474.3(MYH11):c.5298C>G (p.Ala1766=) rs753482794
NM_002474.3(MYH11):c.5314G>C (p.Glu1772Gln)
NM_002474.3(MYH11):c.5320G>A (p.Ala1774Thr)
NM_002474.3(MYH11):c.5323A>G (p.Thr1775Ala)
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) rs201960644
NM_002474.3(MYH11):c.5336C>G (p.Thr1779Arg) rs201960644
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del) rs2151198418
NM_002474.3(MYH11):c.5346G>A (p.Lys1782=) rs375743675
NM_002474.3(MYH11):c.5354G>C (p.Ser1785Thr) rs746310860
NM_002474.3(MYH11):c.5355T>C (p.Ser1785=)
NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val) rs1567687948
NM_002474.3(MYH11):c.5360_5362dup (p.Arg1787dup) rs1596704972
NM_002474.3(MYH11):c.5365C>G (p.Gln1789Glu) rs1596704952
NM_002474.3(MYH11):c.5367G>A (p.Gln1789=) rs748787897
NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys) rs368269107
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln) rs368269107
NM_002474.3(MYH11):c.5373G>A (p.Glu1791=) rs2151198297
NM_002474.3(MYH11):c.5374C>A (p.Arg1792=)
NM_002474.3(MYH11):c.5383A>G (p.Lys1795Glu)
NM_002474.3(MYH11):c.5385G>A (p.Lys1795=)
NM_002474.3(MYH11):c.5385G>C (p.Lys1795Asn)
NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr) rs776016983
NM_002474.3(MYH11):c.5399A>C (p.Lys1800Thr)
NM_002474.3(MYH11):c.5400G>T (p.Lys1800Asn)
NM_002474.3(MYH11):c.5403C>T (p.Leu1801=)
NM_002474.3(MYH11):c.5405A>C (p.His1802Pro)
NM_002474.3(MYH11):c.5406C>T (p.His1802=) rs746211825
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala)
NM_002474.3(MYH11):c.5421C>G (p.Ala1807=) rs145857508
NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn) rs886051738
NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro)
NM_002474.3(MYH11):c.5429C>A (p.Ser1810Tyr) rs1596704556
NM_002474.3(MYH11):c.5435T>C (p.Phe1812Ser)
NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup) rs864309564
NM_002474.3(MYH11):c.5454G>C (p.Ala1818=) rs374486989
NM_002474.3(MYH11):c.5461G>A (p.Ala1821Thr)
NM_002474.3(MYH11):c.5462_5482del (p.Ala1821_Glu1827del) rs2040199092
NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr) rs769337030
NM_002474.3(MYH11):c.5481G>A (p.Glu1827=) rs1462236605
NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys)
NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys) rs1005977032
NM_002474.3(MYH11):c.5490C>A (p.Val1830=) rs770582589
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys) rs750433973
NM_002474.3(MYH11):c.5495AGG[1] (p.Glu1833del)
NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) rs553162576
NM_002474.3(MYH11):c.5497G>A (p.Glu1833Lys) rs1567687398
NM_002474.3(MYH11):c.5499G>A (p.Glu1833=)
NM_002474.3(MYH11):c.5504+11G>A
NM_002474.3(MYH11):c.5504+19C>T
NM_002474.3(MYH11):c.5512C>A (p.Gln1838Lys)
NM_002474.3(MYH11):c.5517G>C (p.Ala1839=) rs28505375
NM_002474.3(MYH11):c.5527T>A (p.Ser1843Thr)
NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp) rs148621523
NM_002474.3(MYH11):c.5546A>G (p.Lys1849Arg) rs2040060420
NM_002474.3(MYH11):c.5562C>A (p.Ile1854=)
NM_002474.3(MYH11):c.5578G>T (p.Asp1860Tyr)
NM_002474.3(MYH11):c.5591T>C (p.Met1864Thr)
NM_002474.3(MYH11):c.5598G>A (p.Glu1866=)
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) rs2151192622
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.5614-5G>T
NM_002474.3(MYH11):c.5619G>A (p.Glu1873=) rs762821036
NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp) rs762821036
NM_002474.3(MYH11):c.5635G>T (p.Val1879Phe)
NM_002474.3(MYH11):c.5636T>C (p.Val1879Ala)
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.5674G>A (p.Glu1892Lys)
NM_002474.3(MYH11):c.5682G>A (p.Gln1894=) rs2151192089
NM_002474.3(MYH11):c.5700C>T (p.Arg1900=)
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp) rs749422717
NM_002474.3(MYH11):c.5722G>A (p.Asp1908Asn) rs1176411300
NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala)
NM_002474.3(MYH11):c.5724T>C (p.Asp1908=) rs2151191997
NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg) rs748516947
NM_002474.3(MYH11):c.5734G>A (p.Glu1912Lys) rs1030614126
NM_002474.3(MYH11):c.5736G>A (p.Glu1912=) rs1331907008
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) rs760586766
NM_002474.3(MYH11):c.5742C>G (p.Asn1914Lys)
NM_002474.3(MYH11):c.5743G>A (p.Glu1915Lys)
NM_002474.3(MYH11):c.5748C>T (p.Ala1916=)
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) rs886051737
NM_002474.3(MYH11):c.5777G>A (p.Ser1926Asn) rs2151191803
NM_002474.3(MYH11):c.5784C>T (p.Leu1928=)
NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) rs2040033952
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.5843T>C (p.Ile1948Thr) rs764843752
NM_017668.3(NDE1):c.*367T>C rs138543179
NM_017668.3(NDE1):c.*388del rs543763112
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+11984G>C rs2039615122
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.947+6367C>T rs886051728
NM_017668.3(NDE1):c.947+6469C>A rs573168314
NM_017668.3(NDE1):c.947+6522G>A rs1567667341
NM_017668.3(NDE1):c.947+6554T>C rs886051731
NM_017668.3(NDE1):c.947+6612A>G rs886051732
NM_017668.3(NDE1):c.947+6693A>G rs2039296516
NM_017668.3(NDE1):c.947+7276A>G rs2039326531
NM_017668.3(NDE1):c.948-2774C>G rs1555552121
NM_017668.3(NDE1):c.948-2779A>G rs1397405569
NM_017668.3(NDE1):c.948-3129A>G rs1378031468
NM_017668.3(NDE1):c.948-3135C>T rs759760029
NM_017668.3(NDE1):c.948-3355C>T rs934815328
NM_017668.3(NDE1):c.948-3356G>T rs142108062
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.948-5750_948-5749delinsAC rs2040287388
NM_017668.3(NDE1):c.948-5885G>A rs199798923
NM_017668.3(NDE1):c.948-6837G>A rs886051739
NM_017668.3(NDE1):c.948-7057G>A rs371348553
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.948-9088dup rs759257352
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
NM_022844.2(MYH11):c.[4578+1G>T;5273G>A]

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