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_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)
|
rs143402648
|
0.00020
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
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.4822G>A (p.Glu1608Lys)
|
rs777768672
|
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.5269G>A (p.Asp1757Asn)
|
rs752996609
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg)
|
rs199713089
|
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.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His)
|
rs765030635
|
0.00006
|
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)
|
rs190546350
|
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_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
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.5103G>T (p.Arg1701Ser)
|
rs777827294
|
0.00004
|
NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe)
|
rs777456120
|
0.00004
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)
|
rs146413415
|
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.4735G>A (p.Asp1579Asn)
|
rs369751362
|
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.5392C>T (p.Arg1798Trp)
|
rs371581038
|
0.00003
|
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)
|
rs148743922
|
0.00003
|
NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys)
|
rs768566847
|
0.00003
|
NM_017668.3(NDE1):c.948-3357C>T
|
rs376779423
|
0.00003
|
NM_017668.3(NDE1):c.980C>T (p.Ser327Leu)
|
rs794728668
|
0.00003
|
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.4159G>A (p.Val1387Met)
|
rs773946923
|
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.4993C>T (p.Arg1665Cys)
|
rs768569707
|
0.00002
|
NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu)
|
rs566447086
|
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.5758G>A (p.Glu1920Lys)
|
rs757099566
|
0.00002
|
NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln)
|
rs769356338
|
0.00002
|
NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)
|
rs764375446
|
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.3895G>A (p.Ala1299Thr)
|
rs1388360113
|
0.00001
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln)
|
rs761662427
|
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.4237G>T (p.Ala1413Ser)
|
rs1025147024
|
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.4531G>A (p.Ala1511Thr)
|
rs2040479391
|
0.00001
|
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn)
|
rs200909802
|
0.00001
|
NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val)
|
rs374952057
|
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.4790A>G (p.Gln1597Arg)
|
rs534983279
|
0.00001
|
NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln)
|
rs190316422
|
0.00001
|
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu)
|
rs1060500728
|
0.00001
|
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr)
|
rs200410021
|
0.00001
|
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr)
|
rs794729642
|
0.00001
|
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)
|
rs761727438
|
0.00001
|
NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn)
|
rs776016983
|
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.5485C>G (p.Gln1829Glu)
|
rs1005977032
|
0.00001
|
NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)
|
rs750085824
|
0.00001
|
NM_017668.3(NDE1):c.965G>A (p.Arg322His)
|
rs766841864
|
0.00001
|
GRCh37/hg19 16p13.11(chr16:15792748-15907589)x3
|
|
|
NM_001040113.2(MYH11):c.*8+1G>A
|
|
|
NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg)
|
rs765030635
|
|
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.5819del (p.Pro1940fs)
|
rs747392139
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys)
|
|
|
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.3880G>A (p.Gly1294Arg)
|
|
|
NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr)
|
|
|
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser)
|
rs2040673806
|
|
NM_002474.3(MYH11):c.3969G>A (p.Leu1323=)
|
rs1180179941
|
|
NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu)
|
rs753575083
|
|
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile)
|
rs794728663
|
|
NM_002474.3(MYH11):c.4078C>G (p.Gln1360Glu)
|
rs1555553235
|
|
NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe)
|
rs147127121
|
|
NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro)
|
rs2151218530
|
|
NM_002474.3(MYH11):c.4227G>C (p.Glu1409Asp)
|
rs2151218259
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu)
|
|
|
NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu)
|
rs2151217975
|
|
NM_002474.3(MYH11):c.4408G>A (p.Glu1470Lys)
|
rs753301051
|
|
NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del)
|
rs1555552158
|
|
NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys)
|
rs794728669
|
|
NM_002474.3(MYH11):c.4561G>A (p.Asp1521Asn)
|
rs794728679
|
|
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
|
|
|
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu)
|
|
|
NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala)
|
rs1343964791
|
|
NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile)
|
rs1064797005
|
|
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.4699G>T (p.Val1567Phe)
|
rs2151208581
|
|
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del)
|
|
|
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser)
|
rs747923542
|
|
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
|
|
|
NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val)
|
rs2151206432
|
|
NM_002474.3(MYH11):c.4915G>C (p.Gly1639Arg)
|
rs151337580
|
|
NM_002474.3(MYH11):c.4949T>C (p.Leu1650Pro)
|
rs1242915320
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
NM_002474.3(MYH11):c.5062G>C (p.Asp1688His)
|
rs1239423939
|
|
NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser)
|
rs2040340393
|
|
NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val)
|
rs779639232
|
|
NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys)
|
rs201108170
|
|
NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val)
|
|
|
NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr)
|
rs1029371842
|
|
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.5230_5231delinsCT (p.Glu1744Leu)
|
|
|
NM_002474.3(MYH11):c.5328G>C (p.Glu1776Asp)
|
rs773366562
|
|
NM_002474.3(MYH11):c.5329C>T (p.Arg1777Cys)
|
rs1441546016
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn)
|
|
|
NM_002474.3(MYH11):c.5364G>A (p.Gln1788=)
|
rs1064797209
|
|
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.5411T>C (p.Met1804Thr)
|
rs1085307503
|
|
NM_002474.3(MYH11):c.5471C>T (p.Ala1824Val)
|
|
|
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys)
|
rs750433973
|
|
NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu)
|
rs2151192751
|
|
NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met)
|
|
|
NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly)
|
rs794728670
|
|
NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp)
|
rs762821036
|
|
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)
|
rs749422717
|
|
NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys)
|
rs748516947
|
|
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)
|
rs760586766
|
|
NM_002474.3(MYH11):c.5759A>T (p.Glu1920Val)
|
rs1290642611
|
|
NM_002474.3(MYH11):c.5767G>T (p.Ala1923Ser)
|
rs571504063
|
|
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)
|
rs764285909
|
|
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)
|
rs751862398
|
|
NM_002474.3(MYH11):c.5838_5839del (p.Arg1946fs)
|
rs1258689018
|
|
NM_002474.3(MYH11):c.5854G>C (p.Asp1952His)
|
rs2151159972
|
|
NM_002474.3(MYH11):c.5875dup (p.Asp1959fs)
|
rs2151159904
|
|
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)
|
rs772155686
|
|
NM_017668.3(NDE1):c.947+11989AG[3]
|
rs747642850
|
|
NM_017668.3(NDE1):c.948-9289T>C
|
rs2151191747
|
|
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)
|
|
|
Single allele
|
|
|