NM_017668.3(NDE1):c.948-4103C>T
|
rs2075512
|
0.65699
|
NM_017668.3(NDE1):c.947+7493G>T
|
rs2242549
|
0.53349
|
NM_017668.3(NDE1):c.948-4415G>A
|
rs17284411
|
0.52480
|
NM_017668.3(NDE1):c.*202G>A
|
rs11130
|
0.47916
|
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)
|
rs2075511
|
0.45713
|
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)
|
rs1050162
|
0.44262
|
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)
|
rs1050163
|
0.44235
|
NM_017668.3(NDE1):c.948-4837G>T
|
rs11646134
|
0.41007
|
NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)
|
rs16967494
|
0.21955
|
NM_017668.3(NDE1):c.948-6620A>G
|
rs13338902
|
0.13374
|
NM_017668.3(NDE1):c.*899C>A
|
rs79015533
|
0.11286
|
NM_017668.3(NDE1):c.948-340T>C
|
rs7195874
|
0.10383
|
NM_017668.3(NDE1):c.*947G>A
|
rs760023
|
0.09015
|
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)
|
rs12907
|
0.08987
|
NM_017668.3(NDE1):c.*913A>C
|
rs760024
|
0.08447
|
NM_017668.3(NDE1):c.948-3771A>G
|
rs73519685
|
0.07995
|
NM_017668.3(NDE1):c.948-3578A>G
|
rs57826272
|
0.07983
|
NM_017668.3(NDE1):c.948-4282C>A
|
rs9935327
|
0.07975
|
NM_017668.3(NDE1):c.948-53G>A
|
rs7193920
|
0.07945
|
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=)
|
rs28505375
|
0.07791
|
NM_017668.3(NDE1):c.948-7166G>C
|
rs8059010
|
0.04849
|
NM_017668.3(NDE1):c.948-5952G>A
|
rs12917928
|
0.04844
|
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)
|
rs16967510
|
0.03954
|
NM_017668.3(NDE1):c.948-6794G>C
|
rs76459240
|
0.03763
|
NM_017668.3(NDE1):c.948-5739G>A
|
rs34839877
|
0.03595
|
NM_017668.3(NDE1):c.948-9502G>T
|
rs71376094
|
0.03274
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_017668.3(NDE1):c.948-2270A>G
|
rs150763893
|
0.02878
|
NM_017668.3(NDE1):c.947+12261T>C
|
rs116441038
|
0.02763
|
NM_017668.3(NDE1):c.948-4650G>A
|
rs113652000
|
0.01934
|
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)
|
rs11648119
|
0.01341
|
NM_017668.3(NDE1):c.948-5057A>C
|
rs112824610
|
0.01134
|
NM_017668.3(NDE1):c.948-2426A>G
|
rs113153833
|
0.01111
|
NM_017668.3(NDE1):c.948-3111A>G
|
rs113126316
|
0.01101
|
NM_017668.3(NDE1):c.948-7319G>C
|
rs113546360
|
0.01097
|
NM_017668.3(NDE1):c.948-3000A>G
|
rs113462408
|
0.01096
|
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)
|
rs8046180
|
0.01019
|
NM_017668.3(NDE1):c.*384C>T
|
rs193005461
|
0.00847
|
NM_017668.3(NDE1):c.947+12145C>T
|
rs146779307
|
0.00796
|
NM_017668.3(NDE1):c.948-2942C>T
|
rs147037725
|
0.00791
|
NM_017668.3(NDE1):c.948-5467G>C
|
rs116923731
|
0.00757
|
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.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_017668.3(NDE1):c.948-5498C>T
|
rs148305743
|
0.00504
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_017668.3(NDE1):c.948-4244C>T
|
rs144592555
|
0.00443
|
NM_017668.3(NDE1):c.948-3440C>T
|
rs534968360
|
0.00352
|
NM_017668.3(NDE1):c.*286G>A
|
rs558625464
|
0.00322
|
NM_017668.3(NDE1):c.947+7298G>T
|
rs115195346
|
0.00274
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)
|
rs138573101
|
0.00226
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)
|
rs113667224
|
0.00171
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_017668.3(NDE1):c.948-2772T>C
|
rs143288748
|
0.00138
|
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=)
|
rs76890940
|
0.00116
|
NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)
|
rs114556043
|
0.00093
|
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)
|
rs111854563
|
0.00078
|
NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)
|
rs760611400
|
0.00057
|
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)
|
rs112467954
|
0.00051
|
NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg)
|
rs143620567
|
0.00050
|
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)
|
rs150033906
|
0.00048
|
NM_017668.3(NDE1):c.947+7094G>T
|
rs182768107
|
0.00041
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_017668.3(NDE1):c.948-6833A>G
|
rs111858392
|
0.00039
|
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)
|
rs142546324
|
0.00038
|
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_017668.3(NDE1):c.948-2788A>G
|
rs118072250
|
0.00034
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)
|
rs138206921
|
0.00032
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)
|
rs146228576
|
0.00025
|
NM_017668.3(NDE1):c.948-3127C>T
|
rs181115969
|
0.00022
|
NM_002474.3(MYH11):c.4533C>T (p.Ala1511=)
|
rs181548582
|
0.00021
|
NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp)
|
rs143402648
|
0.00020
|
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_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_002474.3(MYH11):c.4994G>T (p.Arg1665Leu)
|
rs144813247
|
0.00013
|
NM_002474.3(MYH11):c.4680C>T (p.Asp1560=)
|
rs142613263
|
0.00012
|
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.947+11924G>A
|
rs373484327
|
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.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_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.947+11935C>T
|
rs369832024
|
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.3930G>A (p.Val1310=)
|
rs369184213
|
0.00006
|
NM_002474.3(MYH11):c.4566C>T (p.Asp1522=)
|
rs756552090
|
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.948-5747G>A
|
rs370786181
|
0.00006
|
NM_017668.3(NDE1):c.948-5750G>A
|
rs979879255
|
0.00006
|
NM_017668.3(NDE1):c.948-9103C>T
|
rs202120792
|
0.00006
|
NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
NM_002474.3(MYH11):c.4773G>A (p.Arg1591=)
|
rs747923542
|
0.00005
|
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)
|
rs376154041
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_017668.3(NDE1):c.948-9102G>A
|
rs376174444
|
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.5214C>T (p.Ile1738=)
|
rs1439627120
|
0.00004
|
NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe)
|
rs777456120
|
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.5742C>T (p.Asn1914=)
|
rs146391904
|
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.*631A>G
|
rs373371913
|
0.00004
|
NM_017668.3(NDE1):c.956C>T (p.Thr319Met)
|
rs141262029
|
0.00004
|
NM_017668.3(NDE1):c.964C>T (p.Arg322Cys)
|
rs763467593
|
0.00004
|
NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)
|
rs373899395
|
0.00003
|
NM_002474.3(MYH11):c.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.5696A>G (p.Asn1899Ser)
|
rs79129097
|
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_001040113.2(MYH11):c.5811G>C (p.Gly1937=)
|
rs778350253
|
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.4159G>A (p.Val1387Met)
|
rs773946923
|
0.00002
|
NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=)
|
rs1346896885
|
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.5166G>A (p.Ser1722=)
|
rs746491351
|
0.00002
|
NM_002474.3(MYH11):c.5317C>T (p.Leu1773=)
|
rs767453646
|
0.00002
|
NM_002474.3(MYH11):c.5328G>A (p.Glu1776=)
|
rs773366562
|
0.00002
|
NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln)
|
rs751495086
|
0.00002
|
NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala)
|
rs764219360
|
0.00002
|
NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys)
|
rs757099566
|
0.00002
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
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.3933G>A (p.Ala1311=)
|
rs78857360
|
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.4074C>T (p.Ala1358=)
|
rs370519992
|
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.4590G>A (p.Leu1530=)
|
rs2040445031
|
0.00001
|
NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val)
|
rs374952057
|
0.00001
|
NM_002474.3(MYH11):c.4653G>A (p.Leu1551=)
|
rs763247849
|
0.00001
|
NM_002474.3(MYH11):c.4662G>A (p.Glu1554=)
|
rs747434041
|
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.4899C>T (p.Ala1633=)
|
rs760584464
|
0.00001
|
NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu)
|
rs1060500728
|
0.00001
|
NM_002474.3(MYH11):c.4920G>A (p.Arg1640=)
|
rs199638486
|
0.00001
|
NM_002474.3(MYH11):c.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_002474.3(MYH11):c.5766C>T (p.Asn1922=)
|
rs764020019
|
0.00001
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
NM_017668.3(NDE1):c.947+7130C>G
|
rs751944339
|
0.00001
|
NM_017668.3(NDE1):c.948-39G>A
|
rs571613839
|
0.00001
|
NM_017668.3(NDE1):c.965G>A (p.Arg322His)
|
rs766841864
|
0.00001
|
NM_017668.3(NDE1):c.987C>T (p.Thr329=)
|
rs373591888
|
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.5817C>A (p.Pro1939=)
|
rs1057524493
|
|
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)
|
rs200884440
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.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.3981A>G (p.Glu1327=)
|
|
|
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.4071G>A (p.Glu1357=)
|
|
|
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.4206G>A (p.Glu1402=)
|
rs1567699651
|
|
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.4263C>T (p.Thr1421=)
|
|
|
NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu)
|
rs2151217975
|
|
NM_002474.3(MYH11):c.4366-1G>A
|
rs2151211152
|
|
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.4578+1G>A
|
rs397514037
|
|
NM_002474.3(MYH11):c.4578+2dup
|
rs794728677
|
|
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.4825C>A (p.Arg1609=)
|
rs1055960218
|
|
NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val)
|
rs2151206432
|
|
NM_002474.3(MYH11):c.4845A>G (p.Ala1615=)
|
|
|
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.4953+17G>A
|
|
|
NM_002474.3(MYH11):c.4953+2T>C
|
|
|
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.5083-1G>A
|
rs1596712899
|
|
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.5163G>T (p.Leu1721=)
|
rs777919235
|
|
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.5370C>G (p.Leu1790=)
|
rs35295469
|
|
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.5392C>A (p.Arg1798=)
|
rs371581038
|
|
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.5490C>A (p.Val1830=)
|
rs770582589
|
|
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.5616A>C (p.Ala1872=)
|
|
|
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.5796C>T (p.Asn1932=)
|
rs149529195
|
|
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.*367T>C
|
rs138543179
|
|
NM_017668.3(NDE1):c.*388del
|
rs543763112
|
|
NM_017668.3(NDE1):c.*898A>G
|
rs550076836
|
|
NM_017668.3(NDE1):c.*898_*900del
|
rs1394529790
|
|
NM_017668.3(NDE1):c.*898del
|
rs60544332
|
|
NM_017668.3(NDE1):c.*898dup
|
rs60544332
|
|
NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr)
|
rs1596730121
|
|
NM_017668.3(NDE1):c.947+11893_947+11897del
|
rs144505034
|
|
NM_017668.3(NDE1):c.947+11989AG[2]
|
rs747642850
|
|
NM_017668.3(NDE1):c.947+11989AG[3]
|
rs747642850
|
|
NM_017668.3(NDE1):c.947+12102_947+12106del
|
rs139237029
|
|
NM_017668.3(NDE1):c.947+12229G>T
|
rs9746950
|
|
NM_017668.3(NDE1):c.947+7069_947+7073del
|
rs5815842
|
|
NM_017668.3(NDE1):c.947+7073dup
|
rs5815842
|
|
NM_017668.3(NDE1):c.948-3135C>T
|
rs759760029
|
|
NM_017668.3(NDE1):c.948-3446_948-3445insAAAAA
|
rs113860317
|
|
NM_017668.3(NDE1):c.948-3465_948-3464del
|
rs34491943
|
|
NM_017668.3(NDE1):c.948-3589dup
|
rs79015002
|
|
NM_017668.3(NDE1):c.948-3625T>C
|
rs144000719
|
|
NM_017668.3(NDE1):c.948-3873C>G
|
rs766965358
|
|
NM_017668.3(NDE1):c.948-4460_948-4457del
|
rs766943222
|
|
NM_017668.3(NDE1):c.948-5041G>A
|
rs72772021
|
|
NM_017668.3(NDE1):c.948-5694C>A
|
rs75982287
|
|
NM_017668.3(NDE1):c.948-7058C>A
|
rs529718944
|
|
NM_017668.3(NDE1):c.948-7058C>T
|
rs529718944
|
|
NM_017668.3(NDE1):c.948-7321_948-7320del
|
rs142458525
|
|
NM_017668.3(NDE1):c.948-9289T>C
|
rs2151191747
|
|
NM_017668.3(NDE1):c.948-9464C>G
|
rs72772016
|
|
NM_017668.3(NDE1):c.956C>G (p.Thr319Arg)
|
|
|
Single allele
|
|
|