NM_017668.3(NDE1):c.*238C>G
|
rs7196012
|
0.00411
|
NM_017668.3(NDE1):c.*286G>A
|
rs558625464
|
0.00322
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_017668.3(NDE1):c.*1808T>G
|
rs147741620
|
0.00215
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_017668.3(NDE1):c.*897_*898insC
|
rs1555553475
|
0.00089
|
NM_017668.3(NDE1):c.947+6903A>G
|
rs558010405
|
0.00061
|
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.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_017668.3(NDE1):c.948-9293G>A
|
rs374454501
|
0.00034
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
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_017668.3(NDE1):c.*943C>T
|
rs149894916
|
0.00022
|
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.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
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.4034G>A (p.Arg1345Gln)
|
rs150883363
|
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.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_017668.3(NDE1):c.*1790T>C
|
rs554671949
|
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_017668.3(NDE1):c.*164A>C
|
rs370252949
|
0.00010
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys)
|
rs772663756
|
0.00009
|
NM_017668.3(NDE1):c.*914A>G
|
rs886051751
|
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.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_002474.3(MYH11):c.4345A>C (p.Lys1449Gln)
|
rs775809843
|
0.00005
|
NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr)
|
rs373815046
|
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.5103G>T (p.Arg1701Ser)
|
rs777827294
|
0.00004
|
NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)
|
rs571504063
|
0.00004
|
NM_002474.3(MYH11):c.5808C>T (p.Phe1936=)
|
rs145505544
|
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_017668.3(NDE1):c.968G>C (p.Trp323Ser)
|
rs566506678
|
0.00004
|
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr)
|
rs775154820
|
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.5092G>A (p.Ala1698Thr)
|
rs187172581
|
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.5774A>G (p.Lys1925Arg)
|
rs886051736
|
0.00003
|
NM_017668.3(NDE1):c.*259G>T
|
rs886051742
|
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.4007C>T (p.Thr1336Met)
|
rs771330136
|
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.4717A>G (p.Lys1573Glu)
|
rs151101824
|
0.00002
|
NM_002474.3(MYH11):c.4798G>A (p.Glu1600Lys)
|
rs761463510
|
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.5256G>A (p.Met1752Ile)
|
rs777832499
|
0.00002
|
NM_002474.3(MYH11):c.5260G>A (p.Ala1754Thr)
|
rs1402732324
|
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.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_017668.3(NDE1):c.*1981A>G
|
rs886051756
|
0.00002
|
NM_017668.3(NDE1):c.*2030T>C
|
rs886051757
|
0.00002
|
NM_017668.3(NDE1):c.*344C>T
|
rs886051745
|
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_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg)
|
rs1365916121
|
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.3910A>C (p.Ile1304Leu)
|
rs200737737
|
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.4024G>A (p.Glu1342Lys)
|
rs755408359
|
0.00001
|
NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val)
|
rs886051746
|
0.00001
|
NM_002474.3(MYH11):c.4037A>G (p.Asn1346Ser)
|
rs371790612
|
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.4074C>T (p.Ala1358=)
|
rs370519992
|
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.4135A>C (p.Lys1379Gln)
|
rs753312858
|
0.00001
|
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp)
|
rs754997732
|
0.00001
|
NM_002474.3(MYH11):c.4204G>A (p.Glu1402Lys)
|
rs764341540
|
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.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.4523T>C (p.Met1508Thr)
|
rs1298388002
|
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.4648G>A (p.Glu1550Lys)
|
rs751716762
|
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.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.4891C>T (p.Leu1631Phe)
|
rs1364670858
|
0.00001
|
NM_002474.3(MYH11):c.4904C>G (p.Ser1635Cys)
|
rs772007259
|
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.4990G>A (p.Ala1664Thr)
|
rs1475779964
|
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.5122C>G (p.Leu1708Val)
|
rs1353911032
|
0.00001
|
NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr)
|
rs1344059916
|
0.00001
|
NM_002474.3(MYH11):c.5179C>T (p.Leu1727Phe)
|
rs2040286402
|
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.5255T>C (p.Met1752Thr)
|
rs999924172
|
0.00001
|
NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile)
|
rs761727438
|
0.00001
|
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys)
|
rs377663370
|
0.00001
|
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu)
|
rs901502893
|
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.5360G>A (p.Arg1787Gln)
|
rs759000207
|
0.00001
|
NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp)
|
rs1364355866
|
0.00001
|
NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr)
|
rs1485890422
|
0.00001
|
NM_002474.3(MYH11):c.5416G>A (p.Gly1806Arg)
|
rs1384372336
|
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.5479G>A (p.Glu1827Lys)
|
rs1895647620
|
0.00001
|
NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)
|
rs1365841164
|
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.5572G>T (p.Val1858Leu)
|
rs1436778681
|
0.00001
|
NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val)
|
rs943486107
|
0.00001
|
NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser)
|
rs373369803
|
0.00001
|
NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr)
|
rs2040045274
|
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.5756G>A (p.Arg1919His)
|
rs1284202501
|
0.00001
|
NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val)
|
rs769211342
|
0.00001
|
NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys)
|
rs2039321637
|
0.00001
|
NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)
|
rs761000142
|
0.00001
|
NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr)
|
rs914328780
|
0.00001
|
NM_017668.3(NDE1):c.*593A>G
|
rs770305005
|
0.00001
|
NM_017668.3(NDE1):c.947+11990G>A
|
rs745371874
|
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+7127T>C
|
rs376561783
|
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.948-3872G>A
|
rs375652279
|
0.00001
|
NM_017668.3(NDE1):c.948-9288C>G
|
rs766417351
|
0.00001
|
NM_017668.3(NDE1):c.965G>A (p.Arg322His)
|
rs766841864
|
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
|
NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser)
|
rs2039614500
|
|
NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu)
|
rs765030635
|
|
NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser)
|
rs200884440
|
|
NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)
|
rs111588143
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)
|
rs370858630
|
|
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.3874G>T (p.Val1292Phe)
|
|
|
NM_002474.3(MYH11):c.3878C>G (p.Thr1293Arg)
|
rs2151219964
|
|
NM_002474.3(MYH11):c.3885G>T (p.Met1295Ile)
|
rs2040677902
|
|
NM_002474.3(MYH11):c.3901G>A (p.Gly1301Arg)
|
|
|
NM_002474.3(MYH11):c.3908C>A (p.Ala1303Asp)
|
|
|
NM_002474.3(MYH11):c.3914A>C (p.Lys1305Thr)
|
|
|
NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu)
|
rs7196804
|
|
NM_002474.3(MYH11):c.3932C>A (p.Ala1311Glu)
|
|
|
NM_002474.3(MYH11):c.3949C>G (p.Leu1317Val)
|
|
|
NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser)
|
rs2040673806
|
|
NM_002474.3(MYH11):c.3963+2T>C
|
rs111325146
|
|
NM_002474.3(MYH11):c.3968T>C (p.Leu1323Pro)
|
|
|
NM_002474.3(MYH11):c.3983C>A (p.Thr1328Asn)
|
rs2040665153
|
|
NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp)
|
|
|
NM_002474.3(MYH11):c.4000G>A (p.Val1334Met)
|
rs139377348
|
|
NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu)
|
rs139377348
|
|
NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser)
|
rs754951425
|
|
NM_002474.3(MYH11):c.4021C>A (p.Leu1341Met)
|
|
|
NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly)
|
rs2151219347
|
|
NM_002474.3(MYH11):c.4048G>C (p.Asp1350His)
|
|
|
NM_002474.3(MYH11):c.4058A>T (p.Asp1353Val)
|
|
|
NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile)
|
rs794728663
|
|
NM_002474.3(MYH11):c.4070A>C (p.Glu1357Ala)
|
|
|
NM_002474.3(MYH11):c.4087G>A (p.Glu1363Lys)
|
rs1398265916
|
|
NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp)
|
rs748585013
|
|
NM_002474.3(MYH11):c.4091G>A (p.Arg1364His)
|
|
|
NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg)
|
rs2040657857
|
|
NM_002474.3(MYH11):c.4114C>A (p.Gln1372Lys)
|
rs957879903
|
|
NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu)
|
|
|
NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del)
|
rs748742555
|
|
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr)
|
rs775802674
|
|
NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro)
|
|
|
NM_002474.3(MYH11):c.4154G>T (p.Ser1385Ile)
|
rs2040640042
|
|
NM_002474.3(MYH11):c.4158_4159delinsTA (p.Val1387Met)
|
rs2040639430
|
|
NM_002474.3(MYH11):c.4160T>G (p.Val1387Gly)
|
|
|
NM_002474.3(MYH11):c.4163A>T (p.Glu1388Val)
|
|
|
NM_002474.3(MYH11):c.4169T>C (p.Leu1390Pro)
|
rs2151218401
|
|
NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg)
|
rs1468559687
|
|
NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr)
|
rs765373729
|
|
NM_002474.3(MYH11):c.4203C>G (p.Ile1401Met)
|
rs760611400
|
|
NM_002474.3(MYH11):c.4210C>G (p.Leu1404Val)
|
|
|
NM_002474.3(MYH11):c.4220A>T (p.Gln1407Leu)
|
rs2151218283
|
|
NM_002474.3(MYH11):c.4238C>A (p.Ala1413Asp)
|
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
NM_002474.3(MYH11):c.4241C>A (p.Ala1414Asp)
|
|
|
NM_002474.3(MYH11):c.4241_4242delinsTG (p.Ala1414Val)
|
rs2040634438
|
|
NM_002474.3(MYH11):c.4243T>G (p.Tyr1415Asp)
|
|
|
NM_002474.3(MYH11):c.4244A>G (p.Tyr1415Cys)
|
|
|
NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln)
|
rs2040633481
|
|
NM_002474.3(MYH11):c.4262C>T (p.Thr1421Ile)
|
rs146817436
|
|
NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys)
|
rs990642038
|
|
NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn)
|
|
|
NM_002474.3(MYH11):c.4301T>C (p.Val1434Ala)
|
|
|
NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val)
|
|
|
NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg)
|
rs1567699253
|
|
NM_002474.3(MYH11):c.4358T>G (p.Phe1453Cys)
|
rs151112745
|
|
NM_002474.3(MYH11):c.4367T>C (p.Leu1456Ser)
|
|
|
NM_002474.3(MYH11):c.4375G>A (p.Glu1459Lys)
|
rs1159818787
|
|
NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln)
|
rs749181134
|
|
NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu)
|
rs901607947
|
|
NM_002474.3(MYH11):c.4412G>A (p.Arg1471Lys)
|
rs2040487068
|
|
NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr)
|
rs886051741
|
|
NM_002474.3(MYH11):c.4431A>C (p.Glu1477Asp)
|
rs2040485781
|
|
NM_002474.3(MYH11):c.4431A>T (p.Glu1477Asp)
|
|
|
NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly)
|
rs886039156
|
|
NM_002474.3(MYH11):c.4440G>C (p.Glu1480Asp)
|
|
|
NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr)
|
|
|
NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp)
|
rs755712100
|
|
NM_002474.3(MYH11):c.4480G>C (p.Glu1494Gln)
|
rs375969176
|
|
NM_002474.3(MYH11):c.4486T>G (p.Leu1496Val)
|
rs568507502
|
|
NM_002474.3(MYH11):c.4499A>G (p.Glu1500Gly)
|
|
|
NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys)
|
rs766093291
|
|
NM_002474.3(MYH11):c.4511G>T (p.Arg1504Leu)
|
|
|
NM_002474.3(MYH11):c.4514C>T (p.Thr1505Ile)
|
rs2040481231
|
|
NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser)
|
rs1060500727
|
|
NM_002474.3(MYH11):c.4518C>G (p.Asn1506Lys)
|
|
|
NM_002474.3(MYH11):c.4519A>C (p.Lys1507Gln)
|
|
|
NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys)
|
rs1596721070
|
|
NM_002474.3(MYH11):c.4535A>T (p.Glu1512Val)
|
|
|
NM_002474.3(MYH11):c.4536A>C (p.Glu1512Asp)
|
rs771367057
|
|
NM_002474.3(MYH11):c.4540G>A (p.Glu1514Lys)
|
|
|
NM_002474.3(MYH11):c.4541A>T (p.Glu1514Val)
|
rs2040478111
|
|
NM_002474.3(MYH11):c.4567G>A (p.Val1523Met)
|
|
|
NM_002474.3(MYH11):c.4568T>C (p.Val1523Ala)
|
|
|
NM_002474.3(MYH11):c.4579G>T (p.Val1527Phe)
|
rs774544947
|
|
NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu)
|
|
|
NM_002474.3(MYH11):c.4588C>A (p.Leu1530Met)
|
|
|
NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys)
|
rs748529935
|
|
NM_002474.3(MYH11):c.4601A>C (p.Lys1534Thr)
|
rs1330157483
|
|
NM_002474.3(MYH11):c.4610T>G (p.Leu1537Arg)
|
|
|
NM_002474.3(MYH11):c.4618C>G (p.Gln1540Glu)
|
|
|
NM_002474.3(MYH11):c.4630A>T (p.Met1544Leu)
|
|
|
NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn)
|
rs2151208733
|
|
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.4684A>G (p.Lys1562Glu)
|
|
|
NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp)
|
|
|
NM_002474.3(MYH11):c.4707G>A (p.Met1569Ile)
|
rs2040437613
|
|
NM_002474.3(MYH11):c.4709A>C (p.Gln1570Pro)
|
rs2040437510
|
|
NM_002474.3(MYH11):c.4725G>T (p.Gln1575His)
|
|
|
NM_002474.3(MYH11):c.4728C>A (p.Phe1576Leu)
|
rs765435868
|
|
NM_002474.3(MYH11):c.4753G>A (p.Glu1585Lys)
|
rs773895582
|
|
NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del)
|
|
|
NM_002474.3(MYH11):c.4766A>G (p.Glu1589Gly)
|
|
|
NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser)
|
rs747923542
|
|
NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly)
|
rs754931029
|
|
NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp)
|
rs1328056044
|
|
NM_002474.3(MYH11):c.4801T>G (p.Tyr1601Asp)
|
|
|
NM_002474.3(MYH11):c.4811A>T (p.Glu1604Val)
|
|
|
NM_002474.3(MYH11):c.4819G>A (p.Asp1607Asn)
|
rs771990666
|
|
NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr)
|
|
|
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)
|
rs749424185
|
|
NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro)
|
|
|
NM_002474.3(MYH11):c.4849G>A (p.Ala1617Thr)
|
rs2040395983
|
|
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)
|
rs755547393
|
|
NM_002474.3(MYH11):c.4873G>A (p.Asp1625Asn)
|
|
|
NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp)
|
rs571540776
|
|
NM_002474.3(MYH11):c.4896G>C (p.Gln1632His)
|
rs2040393468
|
|
NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro)
|
rs376331652
|
|
NM_002474.3(MYH11):c.4915G>A (p.Gly1639Arg)
|
|
|
NM_002474.3(MYH11):c.4924G>A (p.Glu1642Lys)
|
rs2040391117
|
|
NM_002474.3(MYH11):c.4948C>A (p.Leu1650Met)
|
|
|
NM_002474.3(MYH11):c.4949T>A (p.Leu1650Gln)
|
|
|
NM_002474.3(MYH11):c.4951C>G (p.Gln1651Glu)
|
rs2151206068
|
|
NM_002474.3(MYH11):c.4953+5G>A
|
|
|
NM_002474.3(MYH11):c.4968C>G (p.Asp1656Glu)
|
|
|
NM_002474.3(MYH11):c.4975A>G (p.Arg1659Gly)
|
rs2151204765
|
|
NM_002474.3(MYH11):c.4991C>G (p.Ala1664Gly)
|
|
|
NM_002474.3(MYH11):c.4991C>T (p.Ala1664Val)
|
rs2040362704
|
|
NM_002474.3(MYH11):c.4994G>A (p.Arg1665His)
|
rs144813247
|
|
NM_002474.3(MYH11):c.5002A>T (p.Arg1668Ter)
|
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
NM_002474.3(MYH11):c.5083-4del
|
|
|
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.5099A>T (p.Glu1700Val)
|
rs2040339703
|
|
NM_002474.3(MYH11):c.5102G>C (p.Arg1701Thr)
|
|
|
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.5120A>G (p.Asp1707Gly)
|
rs1567691518
|
|
NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys)
|
rs769202751
|
|
NM_002474.3(MYH11):c.5125G>C (p.Glu1709Gln)
|
|
|
NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met)
|
|
|
NM_002474.3(MYH11):c.5150T>C (p.Leu1717Pro)
|
rs2040336060
|
|
NM_002474.3(MYH11):c.5187C>G (p.Asp1729Glu)
|
rs145101141
|
|
NM_002474.3(MYH11):c.5195G>A (p.Arg1732His)
|
rs1310012347
|
|
NM_002474.3(MYH11):c.5198G>A (p.Arg1733His)
|
|
|
NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val)
|
rs2040284764
|
|
NM_002474.3(MYH11):c.5205G>T (p.Glu1735Asp)
|
rs1388279286
|
|
NM_002474.3(MYH11):c.5206G>A (p.Ala1736Thr)
|
|
|
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.5219A>G (p.Gln1740Arg)
|
|
|
NM_002474.3(MYH11):c.5220G>T (p.Gln1740His)
|
rs2040283176
|
|
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.5230G>A (p.Glu1744Lys)
|
|
|
NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser)
|
rs749462800
|
|
NM_002474.3(MYH11):c.5264T>A (p.Met1755Lys)
|
rs756538881
|
|
NM_002474.3(MYH11):c.5269G>T (p.Asp1757Tyr)
|
rs752996609
|
|
NM_002474.3(MYH11):c.5275G>C (p.Val1759Leu)
|
|
|
NM_002474.3(MYH11):c.5275G>T (p.Val1759Phe)
|
rs138059405
|
|
NM_002474.3(MYH11):c.5278C>A (p.Arg1760Ser)
|
rs764794087
|
|
NM_002474.3(MYH11):c.5279G>A (p.Arg1760His)
|
|
|
NM_002474.3(MYH11):c.5287A>G (p.Thr1763Ala)
|
rs2151201134
|
|
NM_002474.3(MYH11):c.5296-10_5296-9del
|
|
|
NM_002474.3(MYH11):c.5299G>C (p.Glu1767Gln)
|
|
|
NM_002474.3(MYH11):c.5308A>C (p.Ser1770Arg)
|
|
|
NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)
|
rs201960644
|
|
NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del)
|
rs2151198418
|
|
NM_002474.3(MYH11):c.5349T>A (p.Asn1783Lys)
|
rs112201211
|
|
NM_002474.3(MYH11):c.5353_5355delinsTGC (p.Ser1785Cys)
|
|
|
NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val)
|
rs1567687948
|
|
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.5396G>C (p.Ser1799Thr)
|
rs776016983
|
|
NM_002474.3(MYH11):c.5398A>G (p.Lys1800Glu)
|
|
|
NM_002474.3(MYH11):c.5401C>T (p.Leu1801Phe)
|
|
|
NM_002474.3(MYH11):c.5404_5406del (p.His1802del)
|
rs2040205677
|
|
NM_002474.3(MYH11):c.5407G>A (p.Glu1803Lys)
|
rs1314387438
|
|
NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile)
|
rs748806263
|
|
NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala)
|
|
|
NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro)
|
|
|
NM_002474.3(MYH11):c.5438_5443dup (p.Lys1813_Ser1814dup)
|
rs1567687613
|
|
NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs)
|
|
|
NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu)
|
|
|
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.5488G>A (p.Val1830Ile)
|
rs185904370
|
|
NM_002474.3(MYH11):c.5489_5497del (p.Val1830_Gln1832del)
|
rs2040197454
|
|
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.5491G>C (p.Glu1831Gln)
|
rs750433973
|
|
NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp)
|
rs148621523
|
|
NM_002474.3(MYH11):c.5551C>G (p.Leu1851Val)
|
rs2040060024
|
|
NM_002474.3(MYH11):c.5578G>A (p.Asp1860Asn)
|
|
|
NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly)
|
|
|
NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly)
|
|
|
NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro)
|
|
|
NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln)
|
rs2040046772
|
|
NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg)
|
|
|
NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe)
|
rs2040044275
|
|
NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs)
|
|
|
NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys)
|
|
|
NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser)
|
rs992494235
|
|
NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys)
|
rs992494235
|
|
NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys)
|
|
|
NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys)
|
rs2151192042
|
|
NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg)
|
rs2151192036
|
|
NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)
|
rs749422717
|
|
NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala)
|
|
|
NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)
|
|
|
NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)
|
rs760586766
|
|
NM_002474.3(MYH11):c.5761G>A (p.Val1921Met)
|
rs886051737
|
|
NM_002474.3(MYH11):c.5787-4683C>A
|
|
|
NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)
|
rs764285909
|
|
NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys)
|
|
|
NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu)
|
|
|
NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe)
|
rs2039323650
|
|
NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)
|
rs751862398
|
|
NM_002474.3(MYH11):c.5834G>A (p.Arg1945His)
|
|
|
NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly)
|
|
|
NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr)
|
rs764843752
|
|
NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser)
|
|
|
NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val)
|
rs2039321532
|
|
NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn)
|
|
|
NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)
|
rs772155686
|
|
NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser)
|
rs1317809527
|
|
NM_017668.3(NDE1):c.*1155A>G
|
rs886051752
|
|
NM_017668.3(NDE1):c.*1663C>A
|
rs886051754
|
|
NM_017668.3(NDE1):c.*290dup
|
rs886051743
|
|
NM_017668.3(NDE1):c.*630C>G
|
rs2040672480
|
|
NM_017668.3(NDE1):c.*897A>C
|
rs565400287
|
|
NM_017668.3(NDE1):c.*899CA[8]
|
rs34909724
|
|
NM_017668.3(NDE1):c.*919dup
|
rs886051749
|
|
NM_017668.3(NDE1):c.1001C>G (p.Ser334Cys)
|
rs2040631854
|
|
NM_017668.3(NDE1):c.947+11948G>A
|
rs2151173150
|
|
NM_017668.3(NDE1):c.947+6367C>T
|
rs886051728
|
|
NM_017668.3(NDE1):c.947+6469C>A
|
rs573168314
|
|
NM_017668.3(NDE1):c.947+6490G>T
|
rs886051730
|
|
NM_017668.3(NDE1):c.947+6554T>C
|
rs886051731
|
|
NM_017668.3(NDE1):c.947+6612A>G
|
rs886051732
|
|
NM_017668.3(NDE1):c.947+6655_947+6656del
|
rs768695681
|
|
NM_017668.3(NDE1):c.948-3135C>T
|
rs759760029
|
|
NM_017668.3(NDE1):c.948-3356G>T
|
rs142108062
|
|
NM_017668.3(NDE1):c.948-3870G>C
|
rs201567063
|
|
NM_017668.3(NDE1):c.948-3873C>G
|
rs766965358
|
|
NM_017668.3(NDE1):c.948-5750_948-5749delinsAC
|
rs2040287388
|
|
NM_017668.3(NDE1):c.962dup (p.Cys321fs)
|
rs2040628585
|
|
NM_017668.3(NDE1):c.978A>T (p.Lys326Asn)
|
rs2040629877
|
|
NM_017668.3(NDE1):c.992C>T (p.Ser331Leu)
|
rs2040631048
|
|
NM_017668.3(NDE1):c.993G>C (p.Ser331=)
|
rs1171298608
|
|