ClinVar Miner

List of variants in gene combination MYH11, NDE1 reported as uncertain significance for aortic aneurysm, familial thoracic 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 399
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HGVS dbSNP gnomAD frequency
NM_017668.3(NDE1):c.*899C>A rs79015533 0.11286
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
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_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.4240G>A (p.Ala1414Thr) rs112467954 0.00051
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.5499G>C (p.Glu1833Asp) rs145252402 0.00036
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.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_017668.3(NDE1):c.*1952A>C rs564739542 0.00026
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) rs143402648 0.00020
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.948-5740C>T rs373378619 0.00019
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
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_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363 0.00013
NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) rs144813247 0.00013
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 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_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 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.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) rs140789717 0.00007
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 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.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.948-5750G>A rs979879255 0.00006
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) rs373815046 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.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu) rs754183610 0.00004
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) rs370240337 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.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.5616A>G (p.Ala1872=) rs1328469024 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.956C>T (p.Thr319Met) rs141262029 0.00004
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) rs763467593 0.00004
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) rs775154820 0.00003
NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) rs781252922 0.00003
NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln) rs375607145 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.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.5774A>G (p.Lys1925Arg) rs886051736 0.00003
NM_017668.3(NDE1):c.948-3357C>T rs376779423 0.00003
NM_017668.3(NDE1):c.948-7057G>T rs371348553 0.00003
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) rs794728668 0.00003
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.4123G>A (p.Asp1375Asn) rs143467011 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.4627G>A (p.Glu1543Lys) rs758102556 0.00002
NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) rs151101824 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.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.5375G>A (p.Arg1792Gln) rs751495086 0.00002
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) rs764219360 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.5823G>A (p.Arg1941=) rs764375446 0.00002
NM_017668.3(NDE1):c.948-6840G>C rs370866058 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.3892G>A (p.Glu1298Lys) rs780157741 0.00001
NM_002474.3(MYH11):c.3895G>A (p.Ala1299Thr) rs1388360113 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.4000G>C (p.Val1334Leu) rs139377348 0.00001
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) rs886051746 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.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.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.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.4543G>A (p.Asp1515Asn) rs200909802 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.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4668A>C (p.Gln1556His) rs148275462 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.4790A>G (p.Gln1597Arg) rs534983279 0.00001
NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met) rs376105806 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.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.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.5089G>A (p.Ala1697Thr) rs538145374 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr) rs1344059916 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.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.5441C>T (p.Ser1814Phe) rs759033733 0.00001
NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val) rs771343446 0.00001
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) rs1005977032 0.00001
NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr) rs759734157 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.5684G>A (p.Arg1895His) rs375148396 0.00001
NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr) rs1363749589 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.5788C>T (p.Arg1930Ter) rs772670393 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.948-3365C>T rs374628714 0.00001
NM_017668.3(NDE1):c.948-36C>T rs530881888 0.00001
NM_017668.3(NDE1):c.948-9288C>G rs766417351 0.00001
NM_017668.3(NDE1):c.973T>C (p.Ser325Pro) rs919816656 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_?)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.5815C>T (p.Pro1939Ser)
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>T (p.Pro1940Leu) rs111588143
NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile) rs2151173196
NM_001040113.2(MYH11):c.5832G>C (p.Ser1944=)
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter) rs370858630
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.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.4015C>T (p.Arg1339Cys) rs754951425
NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly) rs2151219347
NM_002474.3(MYH11):c.4051C>A (p.Gln1351Lys)
NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu) rs753575083
NM_002474.3(MYH11):c.4061A>T (p.Glu1354Val)
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp) rs748585013
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) rs147127121
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg) rs2040657857
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu)
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.4184A>G (p.Lys1395Arg) rs1468559687
NM_002474.3(MYH11):c.4186A>G (p.Arg1396Gly)
NM_002474.3(MYH11):c.4202T>A (p.Ile1401Asn)
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr) rs765373729
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.4324C>G (p.Leu1442Val)
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.4404G>A (p.Ala1468=)
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu) rs901607947
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.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.4507G>A (p.Glu1503Lys) rs766093291
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser) rs1060500727
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.4567G>A (p.Val1523Met)
NM_002474.3(MYH11):c.4575G>T (p.Lys1525Asn)
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.4613A>C (p.Glu1538Ala) rs1343964791
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.4691G>T (p.Arg1564Leu)
NM_002474.3(MYH11):c.4712C>T (p.Ala1571Val)
NM_002474.3(MYH11):c.4733G>A (p.Arg1578Lys)
NM_002474.3(MYH11):c.4745C>A (p.Ala1582Asp)
NM_002474.3(MYH11):c.4761T>G (p.Asn1587Lys) rs376132003
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly) rs754931029
NM_002474.3(MYH11):c.4791+16_4791+17delinsAG
NM_002474.3(MYH11):c.4791+4C>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.4846G>C (p.Ala1616Pro)
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.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.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.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.5069T>C (p.Met1690Thr) rs1277876461
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.5125G>A (p.Glu1709Lys) rs769202751
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.5171+3A>G
NM_002474.3(MYH11):c.5192A>C (p.Lys1731Thr)
NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp) rs772907739
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.5236GAG[2] (p.Glu1748del) rs748859355
NM_002474.3(MYH11):c.5252A>T (p.Asn1751Ile) rs149245873
NM_002474.3(MYH11):c.5257G>C (p.Glu1753Gln) rs2040280173
NM_002474.3(MYH11):c.5261C>A (p.Ala1754Asp)
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His)
NM_002474.3(MYH11):c.5284G>A (p.Ala1762Thr) rs142824472
NM_002474.3(MYH11):c.5296-17_5340dup
NM_002474.3(MYH11):c.5296G>A (p.Ala1766Thr) rs2151198532
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.5354G>C (p.Ser1785Thr) rs746310860
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.5371G>A (p.Glu1791Lys) rs368269107
NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln) rs368269107
NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) rs751495086
NM_002474.3(MYH11):c.5383A>G (p.Lys1795Glu)
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.5405A>C (p.His1802Pro)
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala)
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.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.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.5512C>A (p.Gln1838Lys)
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.5578G>T (p.Asp1860Tyr)
NM_002474.3(MYH11):c.5591T>C (p.Met1864Thr)
NM_002474.3(MYH11):c.5614-5G>T
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.5674G>A (p.Glu1892Lys)
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.5732C>G (p.Thr1911Arg) rs748516947
NM_002474.3(MYH11):c.5734G>A (p.Glu1912Lys) rs1030614126
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.5761G>A (p.Val1921Met) rs886051737
NM_002474.3(MYH11):c.5777G>A (p.Ser1926Asn) rs2151191803
NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) rs2040033952
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) rs764285909
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) rs764843752
NM_017668.3(NDE1):c.947+11984G>C rs2039615122
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.948-3135C>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.948-5750_948-5749delinsAC rs2040287388
NM_017668.3(NDE1):c.948-6837G>A rs886051739
NM_017668.3(NDE1):c.948-7057G>A rs371348553

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