ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as likely benign for Aortic aneurysm, familial thoracic 4

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Gene type:
ClinVar version:
Total variants: 385
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HGVS dbSNP gnomAD frequency
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.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_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.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) rs143620567 0.00050
NM_017668.3(NDE1):c.947+7094G>T rs182768107 0.00041
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.948-9293G>A rs374454501 0.00034
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.5393G>A (p.Arg1798Gln) rs148938946 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_017668.3(NDE1):c.947+6521C>T rs189033300 0.00019
NM_017668.3(NDE1):c.948-3368C>A rs189463893 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.4822G>A (p.Glu1608Lys) rs777768672 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_017668.3(NDE1):c.948-40C>T rs142707175 0.00011
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 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_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 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_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.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_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
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_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
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.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_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.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.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.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_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.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.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_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.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.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.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.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.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.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.5322C>T (p.Ala1774=) rs759322440 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_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.948-5748G>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.948-9290C>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.5819_5820insCA (p.Gln1941fs) rs1596675237
NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs) rs2039612615
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.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.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.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.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.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.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.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.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.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.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.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_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+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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