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.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
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.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
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.12G>A (p.Lys4=)
|
rs112650390
|
0.00057
|
NM_002474.3(MYH11):c.429G>A (p.Lys143=)
|
rs200672270
|
0.00056
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)
|
rs111936548
|
0.00052
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)
|
rs112990531
|
0.00046
|
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.471C>T (p.Ile157=)
|
rs140267000
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)
|
rs375998236
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu)
|
rs35035518
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_002474.3(MYH11):c.1502G>A (p.Arg501His)
|
rs144244239
|
0.00029
|
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)
|
rs148893135
|
0.00028
|
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.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_002474.3(MYH11):c.1034-12T>G
|
rs184847335
|
0.00020
|
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.1212G>C (p.Gly404=)
|
rs201198815
|
0.00017
|
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=)
|
rs370854451
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_002474.3(MYH11):c.1017C>T (p.Ser339=)
|
rs112161189
|
0.00014
|
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)
|
rs199564260
|
0.00014
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)
|
rs112948385
|
0.00014
|
NM_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.-17G>C
|
rs767563168
|
0.00011
|
NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu)
|
rs757270167
|
0.00011
|
NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg)
|
rs147848256
|
0.00011
|
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met)
|
rs201391947
|
0.00011
|
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.3293+6G>A
|
rs370658839
|
0.00009
|
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.3293+5C>T
|
rs766421052
|
0.00008
|
NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val)
|
rs772621139
|
0.00008
|
NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)
|
rs547038802
|
0.00008
|
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.1056G>A (p.Ser352=)
|
rs201256839
|
0.00007
|
NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn)
|
rs754374723
|
0.00007
|
NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys)
|
rs140550319
|
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_002474.3(MYH11):c.1301G>A (p.Arg434His)
|
rs754636432
|
0.00006
|
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu)
|
rs771128441
|
0.00006
|
NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val)
|
rs373358736
|
0.00006
|
NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr)
|
rs140479999
|
0.00006
|
NM_002474.3(MYH11):c.3603C>G (p.His1201Gln)
|
rs199800922
|
0.00006
|
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.508G>A (p.Glu170Lys)
|
rs766315580
|
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.1870C>T (p.Arg624Cys)
|
rs765885909
|
0.00005
|
NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)
|
rs369196744
|
0.00005
|
NM_002474.3(MYH11):c.3722G>A (p.Arg1241Gln)
|
rs749705160
|
0.00005
|
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_002474.3(MYH11):c.708C>T (p.Asn236=)
|
rs768328532
|
0.00005
|
NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu)
|
rs754183610
|
0.00004
|
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr)
|
rs745516001
|
0.00004
|
NM_002474.3(MYH11):c.1863C>T (p.Asp621=)
|
rs200158182
|
0.00004
|
NM_002474.3(MYH11):c.2272C>A (p.Pro758Thr)
|
rs147056835
|
0.00004
|
NM_002474.3(MYH11):c.2435A>G (p.Gln812Arg)
|
rs761891932
|
0.00004
|
NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp)
|
rs939496859
|
0.00004
|
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser)
|
rs906679954
|
0.00004
|
NM_002474.3(MYH11):c.2860-14C>G
|
rs371582357
|
0.00004
|
NM_002474.3(MYH11):c.292G>A (p.Glu98Lys)
|
rs773587055
|
0.00004
|
NM_002474.3(MYH11):c.301G>A (p.Val101Met)
|
rs375159635
|
0.00004
|
NM_002474.3(MYH11):c.3030C>G (p.Asp1010Glu)
|
rs374785690
|
0.00004
|
NM_002474.3(MYH11):c.3173G>A (p.Arg1058Gln)
|
rs748577941
|
0.00004
|
NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val)
|
rs371205331
|
0.00004
|
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)
|
rs552818350
|
0.00004
|
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln)
|
rs746615097
|
0.00004
|
NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp)
|
rs142227497
|
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_002474.3(MYH11):c.769G>A (p.Val257Met)
|
rs112992497
|
0.00004
|
NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)
|
rs149964928
|
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.101G>C (p.Arg34Thr)
|
rs199654191
|
0.00003
|
NM_002474.3(MYH11):c.1402-14C>T
|
rs375973110
|
0.00003
|
NM_002474.3(MYH11):c.1904C>T (p.Thr635Met)
|
rs745878375
|
0.00003
|
NM_002474.3(MYH11):c.2000C>T (p.Thr667Met)
|
rs750066715
|
0.00003
|
NM_002474.3(MYH11):c.2158G>A (p.Val720Ile)
|
rs756408490
|
0.00003
|
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly)
|
rs778651094
|
0.00003
|
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys)
|
rs201387564
|
0.00003
|
NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp)
|
rs763514919
|
0.00003
|
NM_002474.3(MYH11):c.2924C>T (p.Thr975Met)
|
rs763795192
|
0.00003
|
NM_002474.3(MYH11):c.2960T>C (p.Ile987Thr)
|
rs770004584
|
0.00003
|
NM_002474.3(MYH11):c.3035C>T (p.Thr1012Met)
|
rs373881911
|
0.00003
|
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr)
|
rs557463209
|
0.00003
|
NM_002474.3(MYH11):c.3433G>A (p.Gly1145Ser)
|
rs761657319
|
0.00003
|
NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)
|
rs770319821
|
0.00003
|
NM_002474.3(MYH11):c.3824G>T (p.Arg1275Leu)
|
rs267606901
|
0.00003
|
NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val)
|
rs1023178766
|
0.00003
|
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.53A>G (p.Lys18Arg)
|
rs756777282
|
0.00003
|
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)
|
rs145857508
|
0.00003
|
NM_002474.3(MYH11):c.546C>T (p.Ala182=)
|
rs113577450
|
0.00003
|
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)
|
rs148743922
|
0.00003
|
NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg)
|
rs886051736
|
0.00003
|
NM_002474.3(MYH11):c.758C>T (p.Thr253Met)
|
rs745787304
|
0.00003
|
NM_002474.3(MYH11):c.94G>A (p.Ala32Thr)
|
rs765295579
|
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.1037T>C (p.Ile346Thr)
|
rs794728675
|
0.00002
|
NM_002474.3(MYH11):c.1178C>T (p.Thr393Ile)
|
rs750691973
|
0.00002
|
NM_002474.3(MYH11):c.1300C>T (p.Arg434Cys)
|
rs375276152
|
0.00002
|
NM_002474.3(MYH11):c.1401+10G>A
|
rs375209947
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002474.3(MYH11):c.200A>G (p.Lys67Arg)
|
rs777426396
|
0.00002
|
NM_002474.3(MYH11):c.2010C>T (p.Asn670=)
|
rs774336703
|
0.00002
|
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)
|
rs760793367
|
0.00002
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
NM_002474.3(MYH11):c.2198C>T (p.Ala733Val)
|
rs776356937
|
0.00002
|
NM_002474.3(MYH11):c.2250+3G>A
|
rs1358873662
|
0.00002
|
NM_002474.3(MYH11):c.2443G>A (p.Ala815Thr)
|
rs774279707
|
0.00002
|
NM_002474.3(MYH11):c.2599C>T (p.Arg867Trp)
|
rs745429737
|
0.00002
|
NM_002474.3(MYH11):c.2861A>T (p.Asp954Val)
|
rs758880935
|
0.00002
|
NM_002474.3(MYH11):c.2952G>C (p.Glu984Asp)
|
rs759420838
|
0.00002
|
NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln)
|
rs771297865
|
0.00002
|
NM_002474.3(MYH11):c.3149G>A (p.Arg1050Gln)
|
rs367605434
|
0.00002
|
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)
|
rs759155353
|
0.00002
|
NM_002474.3(MYH11):c.3262A>G (p.Lys1088Glu)
|
rs375643160
|
0.00002
|
NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)
|
rs534384552
|
0.00002
|
NM_002474.3(MYH11):c.3326C>A (p.Ala1109Asp)
|
rs1046453819
|
0.00002
|
NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp)
|
rs202004234
|
0.00002
|
NM_002474.3(MYH11):c.3389A>G (p.Glu1130Gly)
|
rs1412932117
|
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.4123G>A (p.Asp1375Asn)
|
rs143467011
|
0.00002
|
NM_002474.3(MYH11):c.4159G>A (p.Val1387Met)
|
rs773946923
|
0.00002
|
NM_002474.3(MYH11):c.415G>A (p.Val139Ile)
|
rs745609580
|
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.4834C>T (p.Arg1612Cys)
|
rs748356212
|
0.00002
|
NM_002474.3(MYH11):c.487C>T (p.Arg163Trp)
|
rs759409339
|
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.506G>A (p.Arg169Gln)
|
rs539539812
|
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_002474.3(MYH11):c.5C>T (p.Ala2Val)
|
rs150600829
|
0.00002
|
NM_002474.3(MYH11):c.632C>T (p.Thr211Met)
|
rs557865832
|
0.00002
|
NM_002474.3(MYH11):c.726C>T (p.Phe242=)
|
rs375302438
|
0.00002
|
NM_002474.3(MYH11):c.988G>A (p.Val330Met)
|
rs368938309
|
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.1033+6C>T
|
rs767584307
|
0.00001
|
NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu)
|
rs147496115
|
0.00001
|
NM_002474.3(MYH11):c.1065G>C (p.Gln355His)
|
rs2041923210
|
0.00001
|
NM_002474.3(MYH11):c.1138A>G (p.Lys380Glu)
|
rs2041847532
|
0.00001
|
NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys)
|
rs767021608
|
0.00001
|
NM_002474.3(MYH11):c.119C>T (p.Ser40Leu)
|
rs775927183
|
0.00001
|
NM_002474.3(MYH11):c.1214G>A (p.Arg405Gln)
|
rs748165862
|
0.00001
|
NM_002474.3(MYH11):c.1241A>G (p.Lys414Arg)
|
rs2041844901
|
0.00001
|
NM_002474.3(MYH11):c.1249-4dup
|
rs748020048
|
0.00001
|
NM_002474.3(MYH11):c.1356T>A (p.Ala452=)
|
rs778073237
|
0.00001
|
NM_002474.3(MYH11):c.1402G>A (p.Val468Met)
|
rs780623648
|
0.00001
|
NM_002474.3(MYH11):c.1472T>C (p.Met491Thr)
|
rs1236697376
|
0.00001
|
NM_002474.3(MYH11):c.1513G>A (p.Glu505Lys)
|
rs747217502
|
0.00001
|
NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu)
|
rs750288554
|
0.00001
|
NM_002474.3(MYH11):c.1575+3G>A
|
rs377632137
|
0.00001
|
NM_002474.3(MYH11):c.1576-4A>G
|
rs189193825
|
0.00001
|
NM_002474.3(MYH11):c.161A>G (p.Lys54Arg)
|
rs1015353331
|
0.00001
|
NM_002474.3(MYH11):c.1807G>A (p.Val603Met)
|
rs747024997
|
0.00001
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
NM_002474.3(MYH11):c.1834G>A (p.Asp612Asn)
|
rs1267918882
|
0.00001
|
NM_002474.3(MYH11):c.1849G>A (p.Asp617Asn)
|
rs766985744
|
0.00001
|
NM_002474.3(MYH11):c.1981C>G (p.Leu661Val)
|
rs1267658886
|
0.00001
|
NM_002474.3(MYH11):c.1990C>G (p.Leu664Val)
|
rs762549707
|
0.00001
|
NM_002474.3(MYH11):c.2015C>T (p.Thr672Met)
|
rs749498320
|
0.00001
|
NM_002474.3(MYH11):c.2050G>A (p.Glu684Lys)
|
rs547459589
|
0.00001
|
NM_002474.3(MYH11):c.2058+6G>T
|
rs1262982015
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln)
|
rs376758800
|
0.00001
|
NM_002474.3(MYH11):c.214G>A (p.Gly72Arg)
|
rs2043948568
|
0.00001
|
NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp)
|
rs1275950124
|
0.00001
|
NM_002474.3(MYH11):c.2185G>A (p.Glu729Lys)
|
rs1460761362
|
0.00001
|
NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)
|
rs1050298581
|
0.00001
|
NM_002474.3(MYH11):c.2302A>G (p.Ile768Val)
|
rs779331046
|
0.00001
|
NM_002474.3(MYH11):c.2342A>T (p.Glu781Val)
|
rs1314103972
|
0.00001
|
NM_002474.3(MYH11):c.2371A>G (p.Met791Val)
|
rs780266654
|
0.00001
|
NM_002474.3(MYH11):c.2393G>A (p.Arg798His)
|
rs757602048
|
0.00001
|
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys)
|
rs534802983
|
0.00001
|
NM_002474.3(MYH11):c.2446A>C (p.Met816Leu)
|
rs1243566183
|
0.00001
|
NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln)
|
rs773993037
|
0.00001
|
NM_002474.3(MYH11):c.2788C>T (p.Arg930Cys)
|
rs755324860
|
0.00001
|
NM_002474.3(MYH11):c.2789G>A (p.Arg930His)
|
rs1025259076
|
0.00001
|
NM_002474.3(MYH11):c.2812G>A (p.Gly938Ser)
|
rs1227980651
|
0.00001
|
NM_002474.3(MYH11):c.2813G>T (p.Gly938Val)
|
rs2041270792
|
0.00001
|
NM_002474.3(MYH11):c.281C>T (p.Thr94Met)
|
rs794728681
|
0.00001
|
NM_002474.3(MYH11):c.2863C>G (p.Leu955Val)
|
rs145121051
|
0.00001
|
NM_002474.3(MYH11):c.2997+10G>T
|
rs886051760
|
0.00001
|
NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys)
|
rs1357435865
|
0.00001
|
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp)
|
rs774490005
|
0.00001
|
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr)
|
rs193922629
|
0.00001
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
NM_002474.3(MYH11):c.3391C>T (p.Arg1131Trp)
|
rs778315061
|
0.00001
|
NM_002474.3(MYH11):c.3397G>A (p.Ala1133Thr)
|
rs148731225
|
0.00001
|
NM_002474.3(MYH11):c.3409G>T (p.Ala1137Ser)
|
rs761268562
|
0.00001
|
NM_002474.3(MYH11):c.347C>T (p.Thr116Met)
|
rs1220795088
|
0.00001
|
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)
|
rs371831822
|
0.00001
|
NM_002474.3(MYH11):c.3633G>C (p.Gln1211His)
|
rs1060500724
|
0.00001
|
NM_002474.3(MYH11):c.3651+6G>A
|
rs1018482209
|
0.00001
|
NM_002474.3(MYH11):c.3683C>T (p.Thr1228Met)
|
rs755810220
|
0.00001
|
NM_002474.3(MYH11):c.3694G>C (p.Glu1232Gln)
|
rs754761681
|
0.00001
|
NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg)
|
rs558332944
|
0.00001
|
NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)
|
rs771515309
|
0.00001
|
NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile)
|
rs1399080640
|
0.00001
|
NM_002474.3(MYH11):c.3746A>T (p.Glu1249Val)
|
rs929368464
|
0.00001
|
NM_002474.3(MYH11):c.3751G>C (p.Glu1251Gln)
|
rs2040795490
|
0.00001
|
NM_002474.3(MYH11):c.3754C>T (p.His1252Tyr)
|
rs1006269156
|
0.00001
|
NM_002474.3(MYH11):c.3756T>G (p.His1252Gln)
|
rs1390595486
|
0.00001
|
NM_002474.3(MYH11):c.3765G>T (p.Lys1255Asn)
|
rs1596738517
|
0.00001
|
NM_002474.3(MYH11):c.3821C>G (p.Ala1274Gly)
|
rs1060500723
|
0.00001
|
NM_002474.3(MYH11):c.3824G>A (p.Arg1275Gln)
|
rs267606901
|
0.00001
|
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=)
|
rs752821481
|
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.412A>T (p.Ile138Phe)
|
rs886039133
|
0.00001
|
NM_002474.3(MYH11):c.418G>A (p.Asp140Asn)
|
rs1085307699
|
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.434A>G (p.Lys145Arg)
|
rs755005682
|
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.452C>T (p.Pro151Leu)
|
rs750723134
|
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.465C>T (p.Tyr155=)
|
rs145810355
|
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.479C>T (p.Thr160Met)
|
rs794728671
|
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.488G>A (p.Arg163Gln)
|
rs1060500729
|
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.540T>C (p.Ser180=)
|
rs182700462
|
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.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.62T>C (p.Ile21Thr)
|
rs777372840
|
0.00001
|
NM_002474.3(MYH11):c.709G>A (p.Asp237Asn)
|
rs1390176909
|
0.00001
|
NM_002474.3(MYH11):c.720A>T (p.Ser240=)
|
rs143160789
|
0.00001
|
NM_002474.3(MYH11):c.757A>G (p.Thr253Ala)
|
rs1596822713
|
0.00001
|
NM_002474.3(MYH11):c.759G>A (p.Thr253=)
|
rs777977303
|
0.00001
|
NM_002474.3(MYH11):c.967G>A (p.Asp323Asn)
|
rs774646317
|
0.00001
|
NM_002474.3(MYH11):c.98A>G (p.Lys33Arg)
|
rs2043954401
|
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.948-36C>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_000016.10:g.(?_15708803)_(15838269_?)del
|
|
|
NC_000016.10:g.(?_15726828)_(15727074_?)del
|
|
|
NC_000016.9:g.(?_15795992)_(15951887_?)dup
|
|
|
NC_000016.9:g.(?_15796992)_(15932126_?)dup
|
|
|
NC_000016.9:g.(?_15802658)_(15802708_?)del
|
|
|
NC_000016.9:g.(?_15802660)_(15932126_?)dup
|
|
|
NC_000016.9:g.(?_15802662)_(15880595_?)dup
|
|
|
NC_000016.9:g.(?_15802662)_(15932115_?)dup
|
|
|
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
|
|
|
NC_000016.9:g.(?_15838966)_(15850391_?)dup
|
|
|
NC_000016.9:g.(?_15857633)_(15857768_?)del
|
|
|
NC_000016.9:g.(?_15917092)_(15932109_?)dup
|
|
|
NC_000016.9:g.(?_15931755)_(15932119_?)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.634C>G (p.Gln212Glu)
|
|
|
NM_001040113.2(MYH11):c.654C>T (p.Tyr218=)
|
rs1060500725
|
|
NM_002474.3(MYH11):c.-87C>T
|
rs2044493735
|
|
NM_002474.3(MYH11):c.1013_1015del (p.Phe338_Ser339delinsCys)
|
rs1060500722
|
|
NM_002474.3(MYH11):c.1016G>C (p.Ser339Thr)
|
rs2151291266
|
|
NM_002474.3(MYH11):c.1033T>C (p.Ser345Pro)
|
|
|
NM_002474.3(MYH11):c.1042A>C (p.Lys348Gln)
|
rs2041924034
|
|
NM_002474.3(MYH11):c.1089G>C (p.Lys363Asn)
|
rs777252807
|
|
NM_002474.3(MYH11):c.1099A>G (p.Thr367Ala)
|
|
|
NM_002474.3(MYH11):c.1112C>A (p.Ser371Tyr)
|
|
|
NM_002474.3(MYH11):c.115C>A (p.Pro39Thr)
|
rs761131497
|
|
NM_002474.3(MYH11):c.115C>G (p.Pro39Ala)
|
|
|
NM_002474.3(MYH11):c.1198C>T (p.Arg400Cys)
|
rs1179634554
|
|
NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr)
|
rs773998062
|
|
NM_002474.3(MYH11):c.1220T>C (p.Val407Ala)
|
rs886038993
|
|
NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala)
|
rs1555563221
|
|
NM_002474.3(MYH11):c.1286A>G (p.Tyr429Cys)
|
rs2041822203
|
|
NM_002474.3(MYH11):c.1309C>T (p.Leu437Phe)
|
|
|
NM_002474.3(MYH11):c.1318G>A (p.Val440Met)
|
rs886038900
|
|
NM_002474.3(MYH11):c.1328C>T (p.Ala443Val)
|
rs2041820377
|
|
NM_002474.3(MYH11):c.1341C>A (p.Thr447=)
|
rs200660016
|
|
NM_002474.3(MYH11):c.1343A>G (p.His448Arg)
|
rs1596793460
|
|
NM_002474.3(MYH11):c.1346G>A (p.Arg449Gln)
|
rs775520228
|
|
NM_002474.3(MYH11):c.1346G>T (p.Arg449Leu)
|
rs775520228
|
|
NM_002474.3(MYH11):c.1354G>A (p.Ala452Thr)
|
rs749264459
|
|
NM_002474.3(MYH11):c.136G>A (p.Glu46Lys)
|
|
|
NM_002474.3(MYH11):c.1414G>C (p.Glu472Gln)
|
|
|
NM_002474.3(MYH11):c.1426A>G (p.Ile476Val)
|
rs878854163
|
|
NM_002474.3(MYH11):c.1463A>G (p.Asn488Ser)
|
rs2041773434
|
|
NM_002474.3(MYH11):c.148A>G (p.Ile50Val)
|
|
|
NM_002474.3(MYH11):c.1493A>T (p.Glu498Val)
|
rs2041772436
|
|
NM_002474.3(MYH11):c.1526T>C (p.Ile509Thr)
|
rs1479218252
|
|
NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn)
|
rs112553563
|
|
NM_002474.3(MYH11):c.154G>A (p.Glu52Lys)
|
rs2151381441
|
|
NM_002474.3(MYH11):c.1558G>A (p.Glu520Lys)
|
rs2151274848
|
|
NM_002474.3(MYH11):c.155A>G (p.Glu52Gly)
|
rs1567211756
|
|
NM_002474.3(MYH11):c.1571G>A (p.Arg524Gln)
|
rs886051764
|
|
NM_002474.3(MYH11):c.1575+6_1575+7insTGCCC
|
|
|
NM_002474.3(MYH11):c.1616G>A (p.Cys539Tyr)
|
|
|
NM_002474.3(MYH11):c.1673G>A (p.Gly558Asp)
|
|
|
NM_002474.3(MYH11):c.1700A>G (p.Lys567Arg)
|
rs1596787649
|
|
NM_002474.3(MYH11):c.1701G>T (p.Lys567Asn)
|
rs1415327075
|
|
NM_002474.3(MYH11):c.1712A>G (p.Asp571Gly)
|
|
|
NM_002474.3(MYH11):c.1720G>C (p.Glu574Gln)
|
rs2151272860
|
|
NM_002474.3(MYH11):c.1743_1744inv (p.Gly582Arg)
|
|
|
NM_002474.3(MYH11):c.1805A>G (p.Asn602Ser)
|
|
|
NM_002474.3(MYH11):c.1811C>T (p.Thr604Ile)
|
rs1567729751
|
|
NM_002474.3(MYH11):c.1828T>G (p.Ser610Ala)
|
rs2151268922
|
|
NM_002474.3(MYH11):c.1836C>A (p.Asp612Glu)
|
|
|
NM_002474.3(MYH11):c.1836C>G (p.Asp612Glu)
|
rs757513207
|
|
NM_002474.3(MYH11):c.1847C>T (p.Ala616Val)
|
|
|
NM_002474.3(MYH11):c.1861G>A (p.Asp621Asn)
|
|
|
NM_002474.3(MYH11):c.1862A>G (p.Asp621Gly)
|
|
|
NM_002474.3(MYH11):c.1864+6G>A
|
rs1567729627
|
|
NM_002474.3(MYH11):c.1867G>T (p.Asp623Tyr)
|
|
|
NM_002474.3(MYH11):c.1868A>G (p.Asp623Gly)
|
rs751232816
|
|
NM_002474.3(MYH11):c.1899G>T (p.Lys633Asn)
|
|
|
NM_002474.3(MYH11):c.1923C>A (p.Ser641Arg)
|
rs530466304
|
|
NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys)
|
rs1160451543
|
|
NM_002474.3(MYH11):c.1995G>C (p.Met665Ile)
|
|
|
NM_002474.3(MYH11):c.2012C>T (p.Thr671Ile)
|
|
|
NM_002474.3(MYH11):c.2017C>G (p.Pro673Ala)
|
rs1567726659
|
|
NM_002474.3(MYH11):c.2029C>T (p.Arg677Cys)
|
|
|
NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser)
|
rs886051763
|
|
NM_002474.3(MYH11):c.2049C>A (p.His683Gln)
|
rs150924100
|
|
NM_002474.3(MYH11):c.2058+7C>T
|
rs2151263783
|
|
NM_002474.3(MYH11):c.2059-12T>G
|
|
|
NM_002474.3(MYH11):c.2059T>G (p.Ser687Ala)
|
|
|
NM_002474.3(MYH11):c.2080C>G (p.Leu694Val)
|
|
|
NM_002474.3(MYH11):c.2099G>T (p.Arg700Leu)
|
rs376758800
|
|
NM_002474.3(MYH11):c.2147C>A (p.Pro716His)
|
rs1596774009
|
|
NM_002474.3(MYH11):c.2155A>G (p.Ile719Val)
|
|
|
NM_002474.3(MYH11):c.2191C>G (p.Leu731Val)
|
rs2151260511
|
|
NM_002474.3(MYH11):c.2213A>G (p.Lys738Arg)
|
rs1555560379
|
|
NM_002474.3(MYH11):c.2216G>C (p.Gly739Ala)
|
rs771806682
|
|
NM_002474.3(MYH11):c.2216G>T (p.Gly739Val)
|
rs771806682
|
|
NM_002474.3(MYH11):c.2240G>C (p.Cys747Ser)
|
|
|
NM_002474.3(MYH11):c.2251A>C (p.Ile751Leu)
|
|
|
NM_002474.3(MYH11):c.2254A>G (p.Lys752Glu)
|
rs2041457179
|
|
NM_002474.3(MYH11):c.2258C>T (p.Ala753Val)
|
|
|
NM_002474.3(MYH11):c.2285G>A (p.Arg762Lys)
|
|
|
NM_002474.3(MYH11):c.2308T>C (p.Phe770Leu)
|
rs571704734
|
|
NM_002474.3(MYH11):c.2320G>A (p.Val774Ile)
|
rs147897132
|
|
NM_002474.3(MYH11):c.2362G>A (p.Asp788Asn)
|
rs768858261
|
|
NM_002474.3(MYH11):c.2387T>C (p.Met796Thr)
|
|
|
NM_002474.3(MYH11):c.2398T>C (p.Tyr800His)
|
rs1567723860
|
|
NM_002474.3(MYH11):c.2398T>G (p.Tyr800Asp)
|
rs1567723860
|
|
NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys)
|
rs749801876
|
|
NM_002474.3(MYH11):c.2446A>T (p.Met816Leu)
|
rs1243566183
|
|
NM_002474.3(MYH11):c.244C>A (p.Pro82Thr)
|
rs1431217461
|
|
NM_002474.3(MYH11):c.2466C>A (p.Asn822Lys)
|
|
|
NM_002474.3(MYH11):c.2470G>A (p.Ala824Thr)
|
|
|
NM_002474.3(MYH11):c.2481C>T (p.Leu827=)
|
rs886051762
|
|
NM_002474.3(MYH11):c.2489G>A (p.Arg830Gln)
|
|
|
NM_002474.3(MYH11):c.2545C>T (p.Arg849Trp)
|
rs869025471
|
|
NM_002474.3(MYH11):c.2561T>G (p.Met854Arg)
|
rs2041283522
|
|
NM_002474.3(MYH11):c.2563C>A (p.Gln855Lys)
|
|
|
NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn)
|
rs2041282747
|
|
NM_002474.3(MYH11):c.2594A>C (p.Lys865Thr)
|
|
|
NM_002474.3(MYH11):c.2594A>T (p.Lys865Met)
|
rs1337742341
|
|
NM_002474.3(MYH11):c.259G>T (p.Val87Leu)
|
rs1488968785
|
|
NM_002474.3(MYH11):c.2652+3A>G
|
rs1480678047
|
|
NM_002474.3(MYH11):c.2652+5C>T
|
rs2151251015
|
|
NM_002474.3(MYH11):c.2653-3C>T
|
rs571588512
|
|
NM_002474.3(MYH11):c.2653C>G (p.Leu885Val)
|
rs1596763433
|
|
NM_002474.3(MYH11):c.2657C>G (p.Thr886Ser)
|
|
|
NM_002474.3(MYH11):c.265G>T (p.Asp89Tyr)
|
rs2043945984
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002474.3(MYH11):c.2670C>A (p.Asn890Lys)
|
|
|
NM_002474.3(MYH11):c.267C>A (p.Asp89Glu)
|
rs775840903
|
|
NM_002474.3(MYH11):c.2703G>T (p.Glu901Asp)
|
rs886051761
|
|
NM_002474.3(MYH11):c.270G>A (p.Met90Ile)
|
|
|
NM_002474.3(MYH11):c.2715G>C (p.Glu905Asp)
|
|
|
NM_002474.3(MYH11):c.272C>T (p.Ala91Val)
|
rs1555459204
|
|
NM_002474.3(MYH11):c.2731G>A (p.Val911Met)
|
|
|
NM_002474.3(MYH11):c.2741C>T (p.Ala914Val)
|
rs142128375
|
|
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg)
|
rs1382626826
|
|
NM_002474.3(MYH11):c.2753A>G (p.Gln918Arg)
|
|
|
NM_002474.3(MYH11):c.2778G>T (p.Glu926Asp)
|
|
|
NM_002474.3(MYH11):c.2780T>C (p.Met927Thr)
|
rs781711607
|
|
NM_002474.3(MYH11):c.2808C>G (p.Asp936Glu)
|
|
|
NM_002474.3(MYH11):c.2841G>T (p.Lys947Asn)
|
rs878854164
|
|
NM_002474.3(MYH11):c.2848C>G (p.Gln950Glu)
|
rs2041269564
|
|
NM_002474.3(MYH11):c.2852A>T (p.Gln951Leu)
|
rs2041269387
|
|
NM_002474.3(MYH11):c.2853G>C (p.Gln951His)
|
rs2151250272
|
|
NM_002474.3(MYH11):c.2860-8C>A
|
rs1471253618
|
|
NM_002474.3(MYH11):c.2875C>G (p.Leu959Val)
|
rs1596760890
|
|
NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly)
|
rs2151248171
|
|
NM_002474.3(MYH11):c.2894C>T (p.Ala965Val)
|
|
|
NM_002474.3(MYH11):c.291C>G (p.Asn97Lys)
|
rs113363750
|
|
NM_002474.3(MYH11):c.294A>C (p.Glu98Asp)
|
rs864309563
|
|
NM_002474.3(MYH11):c.2958G>C (p.Glu986Asp)
|
rs774274573
|
|
NM_002474.3(MYH11):c.2961C>G (p.Ile987Met)
|
rs137988790
|
|
NM_002474.3(MYH11):c.2981A>T (p.Asn994Ile)
|
rs1219173895
|
|
NM_002474.3(MYH11):c.2992T>C (p.Ser998Pro)
|
rs2151247943
|
|
NM_002474.3(MYH11):c.2996A>G (p.Lys999Arg)
|
|
|
NM_002474.3(MYH11):c.3017A>G (p.Glu1006Gly)
|
|
|
NM_002474.3(MYH11):c.3071A>G (p.Asn1024Ser)
|
rs2151245961
|
|
NM_002474.3(MYH11):c.3092A>T (p.Lys1031Met)
|
|
|
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val)
|
rs1223757069
|
|
NM_002474.3(MYH11):c.3121+6C>T
|
|
|
NM_002474.3(MYH11):c.3122T>C (p.Val1041Ala)
|
rs2041159388
|
|
NM_002474.3(MYH11):c.3190G>A (p.Ala1064Thr)
|
rs2151244209
|
|
NM_002474.3(MYH11):c.3200T>G (p.Phe1067Cys)
|
|
|
NM_002474.3(MYH11):c.3202C>T (p.His1068Tyr)
|
|
|
NM_002474.3(MYH11):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_002474.3(MYH11):c.3225G>C (p.Gln1075His)
|
|
|
NM_002474.3(MYH11):c.3226G>T (p.Ala1076Ser)
|
rs1229749917
|
|
NM_002474.3(MYH11):c.3235G>T (p.Ala1079Ser)
|
rs140479999
|
|
NM_002474.3(MYH11):c.3245A>G (p.Lys1082Arg)
|
|
|
NM_002474.3(MYH11):c.3249G>A (p.Met1083Ile)
|
rs2151244102
|
|
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=)
|
rs768298662
|
|
NM_002474.3(MYH11):c.3271G>A (p.Glu1091Lys)
|
|
|
NM_002474.3(MYH11):c.3271G>C (p.Glu1091Gln)
|
rs201443445
|
|
NM_002474.3(MYH11):c.3271_3272delinsTT (p.Glu1091Leu)
|
|
|
NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val)
|
rs945042608
|
|
NM_002474.3(MYH11):c.3284C>T (p.Ala1095Val)
|
|
|
NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe)
|
rs757497342
|
|
NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn)
|
rs764532365
|
|
NM_002474.3(MYH11):c.3311C>G (p.Ala1104Gly)
|
|
|
NM_002474.3(MYH11):c.3315GAA[1] (p.Lys1106del)
|
|
|
NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp)
|
rs1451959711
|
|
NM_002474.3(MYH11):c.3338T>C (p.Ile1113Thr)
|
rs2151241070
|
|
NM_002474.3(MYH11):c.3341G>A (p.Arg1114Gln)
|
rs1349239463
|
|
NM_002474.3(MYH11):c.3353G>A (p.Gly1118Asp)
|
rs746006297
|
|
NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val)
|
rs886038854
|
|
NM_002474.3(MYH11):c.3394G>A (p.Ala1132Thr)
|
rs1409752157
|
|
NM_002474.3(MYH11):c.3397G>T (p.Ala1133Ser)
|
rs148731225
|
|
NM_002474.3(MYH11):c.33G>C (p.Glu11Asp)
|
rs148562366
|
|
NM_002474.3(MYH11):c.3407A>T (p.Lys1136Met)
|
rs2151240909
|
|
NM_002474.3(MYH11):c.3409G>A (p.Ala1137Thr)
|
rs761268562
|
|
NM_002474.3(MYH11):c.3425G>A (p.Arg1142Gln)
|
|
|
NM_002474.3(MYH11):c.3427G>A (p.Asp1143Asn)
|
|
|
NM_002474.3(MYH11):c.3428A>T (p.Asp1143Val)
|
|
|
NM_002474.3(MYH11):c.3429C>A (p.Asp1143Glu)
|
rs1466172600
|
|
NM_002474.3(MYH11):c.3430C>A (p.Leu1144Ile)
|
rs1555556567
|
|
NM_002474.3(MYH11):c.343T>C (p.Tyr115His)
|
|
|
NM_002474.3(MYH11):c.3443T>A (p.Leu1148Gln)
|
rs1060500726
|
|
NM_002474.3(MYH11):c.345+4A>T
|
|
|
NM_002474.3(MYH11):c.3455A>G (p.Lys1152Arg)
|
rs1433294302
|
|
NM_002474.3(MYH11):c.3494A>T (p.Gln1165Leu)
|
rs2151240746
|
|
NM_002474.3(MYH11):c.34A>G (p.Lys12Glu)
|
|
|
NM_002474.3(MYH11):c.3505A>C (p.Arg1169=)
|
|
|
NM_002474.3(MYH11):c.3507G>C (p.Arg1169Ser)
|
|
|
NM_002474.3(MYH11):c.3541_3542delinsGC (p.Lys1181Ala)
|
rs1555555783
|
|
NM_002474.3(MYH11):c.3552T>G (p.Asp1184Glu)
|
rs2041002895
|
|
NM_002474.3(MYH11):c.3570T>A (p.His1190Gln)
|
rs769951224
|
|
NM_002474.3(MYH11):c.3579G>C (p.Gln1193His)
|
rs1251694902
|
|
NM_002474.3(MYH11):c.3605C>T (p.Ala1202Val)
|
|
|
NM_002474.3(MYH11):c.3628G>A (p.Glu1210Lys)
|
rs2040998700
|
|
NM_002474.3(MYH11):c.3638A>C (p.Glu1213Ala)
|
|
|
NM_002474.3(MYH11):c.3651+3_3651+15del
|
|
|
NM_002474.3(MYH11):c.3651+5T>G
|
rs794727439
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
NM_002474.3(MYH11):c.3652-3C>T
|
rs1431797854
|
|
NM_002474.3(MYH11):c.3659C>T (p.Ala1220Val)
|
|
|
NM_002474.3(MYH11):c.3667G>C (p.Asp1223His)
|
rs1264829172
|
|
NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu)
|
rs111940956
|
|
NM_002474.3(MYH11):c.3670A>G (p.Lys1224Glu)
|
|
|
NM_002474.3(MYH11):c.3673A>C (p.Asn1225His)
|
rs1035637500
|
|
NM_002474.3(MYH11):c.3676A>G (p.Lys1226Glu)
|
rs2040800359
|
|
NM_002474.3(MYH11):c.3687_3688delinsTC (p.Glu1230Gln)
|
|
|
NM_002474.3(MYH11):c.36G>T (p.Lys12Asn)
|
|
|
NM_002474.3(MYH11):c.3710C>G (p.Ala1237Gly)
|
|
|
NM_002474.3(MYH11):c.3712G>C (p.Gly1238Arg)
|
rs558332944
|
|
NM_002474.3(MYH11):c.3719T>C (p.Leu1240Pro)
|
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
NM_002474.3(MYH11):c.3739A>G (p.Lys1247Glu)
|
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.3770T>C (p.Leu1257Pro)
|
rs387906532
|
|
NM_002474.3(MYH11):c.3778_3780dup (p.Gln1260dup)
|
rs2151225352
|
|
NM_002474.3(MYH11):c.3781G>A (p.Val1261Met)
|
rs1057518389
|
|
NM_002474.3(MYH11):c.3781G>C (p.Val1261Leu)
|
rs1057518389
|
|
NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro)
|
rs201831933
|
|
NM_002474.3(MYH11):c.3807C>A (p.Ser1269Arg)
|
|
|
NM_002474.3(MYH11):c.3808G>C (p.Asp1270His)
|
rs770319821
|
|
NM_002474.3(MYH11):c.3812G>C (p.Gly1271Ala)
|
|
|
NM_002474.3(MYH11):c.3821C>T (p.Ala1274Val)
|
rs1060500723
|
|
NM_002474.3(MYH11):c.3823C>G (p.Arg1275Gly)
|
|
|
NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp)
|
rs1182738877
|
|
NM_002474.3(MYH11):c.3827C>G (p.Ala1276Gly)
|
rs547038802
|
|
NM_002474.3(MYH11):c.3840C>G (p.Asp1280Glu)
|
|
|
NM_002474.3(MYH11):c.3841A>G (p.Lys1281Glu)
|
|
|
NM_002474.3(MYH11):c.3842A>T (p.Lys1281Ile)
|
rs1060500730
|
|
NM_002474.3(MYH11):c.3844G>C (p.Val1282Leu)
|
rs763285173
|
|
NM_002474.3(MYH11):c.3845T>G (p.Val1282Gly)
|
rs1555554044
|
|
NM_002474.3(MYH11):c.3847C>A (p.His1283Asn)
|
rs750794801
|
|
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.391C>G (p.Leu131Val)
|
rs111247524
|
|
NM_002474.3(MYH11):c.397A>G (p.Ile133Val)
|
rs2043468274
|
|
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.404C>T (p.Ser135Leu)
|
rs760445629
|
|
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.469A>G (p.Ile157Val)
|
|
|
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.47T>C (p.Val16Ala)
|
rs778352596
|
|
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.493A>G (p.Met165Val)
|
|
|
NM_002474.3(MYH11):c.4965G>T (p.Lys1655Asn)
|
|
|
NM_002474.3(MYH11):c.496C>T (p.Leu166Phe)
|
rs2151359714
|
|
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.505C>A (p.Arg169=)
|
|
|
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.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.530C>T (p.Thr177Ile)
|
rs2042809404
|
|
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.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.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.5843T>C (p.Ile1948Thr)
|
rs764843752
|
|
NM_002474.3(MYH11):c.589G>A (p.Val197Met)
|
rs1397436456
|
|
NM_002474.3(MYH11):c.598T>C (p.Ser200Pro)
|
rs763151112
|
|
NM_002474.3(MYH11):c.598T>G (p.Ser200Ala)
|
rs763151112
|
|
NM_002474.3(MYH11):c.601T>G (p.Ser201Ala)
|
rs773450359
|
|
NM_002474.3(MYH11):c.605A>C (p.His202Pro)
|
rs369194676
|
|
NM_002474.3(MYH11):c.626G>A (p.Ser209Asn)
|
|
|
NM_002474.3(MYH11):c.633G>A (p.Thr211=)
|
rs765225250
|
|
NM_002474.3(MYH11):c.674T>C (p.Leu225Pro)
|
|
|
NM_002474.3(MYH11):c.70C>G (p.Pro24Ala)
|
rs752441599
|
|
NM_002474.3(MYH11):c.714C>A (p.Asn238Lys)
|
|
|
NM_002474.3(MYH11):c.727-5G>A
|
rs1555566938
|
|
NM_002474.3(MYH11):c.74T>G (p.Val25Gly)
|
|
|
NM_002474.3(MYH11):c.754G>A (p.Val252Ile)
|
rs772078130
|
|
NM_002474.3(MYH11):c.791-10T>G
|
|
|
NM_002474.3(MYH11):c.800A>G (p.Glu267Gly)
|
|
|
NM_002474.3(MYH11):c.808C>T (p.Arg270Trp)
|
rs2042216578
|
|
NM_002474.3(MYH11):c.817C>G (p.Arg273Gly)
|
|
|
NM_002474.3(MYH11):c.847A>C (p.Ile283Leu)
|
rs1680622570
|
|
NM_002474.3(MYH11):c.849C>G (p.Ile283Met)
|
|
|
NM_002474.3(MYH11):c.861G>A (p.Met287Ile)
|
rs1371371071
|
|
NM_002474.3(MYH11):c.882G>C (p.Lys294Asn)
|
|
|
NM_002474.3(MYH11):c.898C>G (p.Leu300Val)
|
rs2042105924
|
|
NM_002474.3(MYH11):c.908G>A (p.Gly303Asp)
|
|
|
NM_002474.3(MYH11):c.920A>G (p.Tyr307Cys)
|
|
|
NM_002474.3(MYH11):c.94G>C (p.Ala32Pro)
|
rs765295579
|
|
NM_002474.3(MYH11):c.95C>G (p.Ala32Gly)
|
|
|
NM_002474.3(MYH11):c.962A>G (p.Gln321Arg)
|
rs2151291347
|
|
NM_002474.3(MYH11):c.981G>C (p.Gln327His)
|
|
|
NM_002474.3(MYH11):c.981G>T (p.Gln327His)
|
|
|
NM_002474.3(MYH11):c.986C>T (p.Thr329Ile)
|
|
|
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
|
|