NM_000334.4(SCN4A):c.483-25T>C
|
rs9892013
|
0.98729
|
NM_000334.4(SCN4A):c.703+55T>C
|
rs2302236
|
0.85739
|
NM_000334.4(SCN4A):c.1037-304T>C
|
rs4968678
|
0.85402
|
NM_000334.4(SCN4A):c.1037-291A>G
|
rs4968677
|
0.84861
|
NM_000334.4(SCN4A):c.1243-41A>G
|
rs2877373
|
0.79619
|
NM_000334.4(SCN4A):c.1452+224T>C
|
rs917558
|
0.78939
|
NM_000334.4(SCN4A):c.1452+270C>A
|
rs917557
|
0.78264
|
NM_000334.4(SCN4A):c.1453-132C>A
|
rs2331408
|
0.75697
|
NM_000334.4(SCN4A):c.-327A>G
|
rs3760238
|
0.52810
|
NM_000334.4(SCN4A):c.-312G>A
|
rs3760239
|
0.51479
|
NM_000334.4(SCN4A):c.1845+12C>G
|
rs776175702
|
0.15279
|
NM_000334.4(SCN4A):c.1607-339A>G
|
rs73326355
|
0.09674
|
NM_000334.4(SCN4A):c.1845+319G>C
|
rs77136990
|
0.06811
|
NM_000334.4(SCN4A):c.1100+115T>G
|
rs73326367
|
0.06208
|
NM_000334.4(SCN4A):c.1037-112G>A
|
rs78364035
|
0.06105
|
NM_000334.4(SCN4A):c.1242+247T>C
|
rs2008896
|
0.03756
|
NM_000334.4(SCN4A):c.1100+83C>G
|
rs77563591
|
0.03746
|
NM_000334.4(SCN4A):c.1452+260C>T
|
rs78305954
|
0.02742
|
NM_000334.4(SCN4A):c.612-119C>T
|
rs78410751
|
0.02251
|
NM_000334.4(SCN4A):c.1453-23C>T
|
rs75168694
|
0.02115
|
NM_000334.4(SCN4A):c.-240G>C
|
rs77367618
|
0.01889
|
NM_000334.4(SCN4A):c.726C>T (p.Ala242=)
|
rs73326368
|
0.01791
|
NM_000334.4(SCN4A):c.1845+57C>T
|
rs60911788
|
0.01585
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_000334.4(SCN4A):c.1036+84_1036+85insG
|
rs550986247
|
0.00842
|
NM_000334.4(SCN4A):c.1606+20G>A
|
rs73326363
|
0.00787
|
NM_000334.4(SCN4A):c.1846-275C>T
|
rs111909623
|
0.00762
|
NM_000334.4(SCN4A):c.1036+197C>T
|
rs139534530
|
0.00594
|
NM_000334.4(SCN4A):c.1606+54C>G
|
rs73326361
|
0.00544
|
NM_000334.4(SCN4A):c.483-21G>A
|
rs9892202
|
0.00505
|
NM_000334.4(SCN4A):c.404T>C (p.Met135Thr)
|
rs115304957
|
0.00467
|
NM_000334.4(SCN4A):c.2019+188C>T
|
rs146505658
|
0.00403
|
NM_000334.4(SCN4A):c.1845+3A>G
|
rs1326121968
|
0.00350
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp)
|
rs201379704
|
0.00258
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
NM_000334.4(SCN4A):c.248T>C (p.Leu83Pro)
|
rs147352060
|
0.00141
|
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)
|
rs372791798
|
0.00112
|
NM_000334.4(SCN4A):c.318C>T (p.Ser106=)
|
rs138670794
|
0.00089
|
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)
|
rs181292216
|
0.00069
|
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser)
|
rs376505442
|
0.00062
|
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)
|
rs185941768
|
0.00059
|
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)
|
rs199676994
|
0.00059
|
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)
|
rs149726115
|
0.00056
|
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser)
|
rs78592515
|
0.00054
|
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)
|
rs201793080
|
0.00053
|
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)
|
rs148028364
|
0.00042
|
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val)
|
rs200834218
|
0.00041
|
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)
|
rs75086141
|
0.00029
|
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys)
|
rs781412058
|
0.00028
|
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile)
|
rs367988986
|
0.00027
|
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)
|
rs201199086
|
0.00026
|
NM_000334.4(SCN4A):c.845G>A (p.Arg282His)
|
rs200615763
|
0.00025
|
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)
|
rs182691342
|
0.00021
|
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser)
|
rs187055074
|
0.00018
|
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val)
|
rs199859508
|
0.00018
|
NM_000334.4(SCN4A):c.963C>T (p.Asn321=)
|
rs748863960
|
0.00016
|
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)
|
rs147936148
|
0.00011
|
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys)
|
rs368011562
|
0.00011
|
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)
|
rs766463226
|
0.00009
|
NM_000334.4(SCN4A):c.841G>A (p.Val281Met)
|
rs370289618
|
0.00009
|
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln)
|
rs374446143
|
0.00007
|
NM_000334.4(SCN4A):c.-4G>A
|
rs565414568
|
0.00006
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
|
rs368811155
|
0.00006
|
NM_000334.4(SCN4A):c.365G>A (p.Arg122His)
|
rs374529559
|
0.00006
|
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe)
|
rs368999500
|
0.00006
|
NM_000334.4(SCN4A):c.1461C>T (p.Ala487=)
|
rs541858248
|
0.00005
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile)
|
rs766975288
|
0.00005
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00005
|
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)
|
rs369652972
|
0.00005
|
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=)
|
rs375655445
|
0.00004
|
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln)
|
rs772546656
|
0.00004
|
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp)
|
rs558855276
|
0.00004
|
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)
|
rs527384137
|
0.00004
|
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile)
|
rs906634749
|
0.00004
|
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His)
|
rs375403086
|
0.00004
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
NM_000334.4(SCN4A):c.274-30C>G
|
rs371946667
|
0.00004
|
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met)
|
rs201661188
|
0.00004
|
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu)
|
rs760518441
|
0.00004
|
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn)
|
rs376680315
|
0.00004
|
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=)
|
rs201411232
|
0.00004
|
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)
|
rs564134251
|
0.00003
|
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)
|
rs778661227
|
0.00003
|
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp)
|
rs763866848
|
0.00003
|
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser)
|
rs374835121
|
0.00002
|
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)
|
rs540596321
|
0.00002
|
NM_000334.4(SCN4A):c.229G>A (p.Gly77Ser)
|
rs369547459
|
0.00002
|
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile)
|
rs967530693
|
0.00002
|
NM_000334.4(SCN4A):c.53G>A (p.Arg18His)
|
rs557359808
|
0.00002
|
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu)
|
rs755321637
|
0.00002
|
NM_000334.4(SCN4A):c.757G>A (p.Val253Met)
|
rs772899378
|
0.00002
|
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe)
|
rs764694733
|
0.00002
|
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu)
|
rs886053250
|
0.00002
|
NM_000334.4(SCN4A):c.969G>A (p.Thr323=)
|
rs1429424012
|
0.00002
|
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn)
|
rs766055241
|
0.00001
|
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr)
|
rs1174261819
|
0.00001
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)
|
rs121908552
|
0.00001
|
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln)
|
rs1240011068
|
0.00001
|
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)
|
rs376538198
|
0.00001
|
NM_000334.4(SCN4A):c.1597G>A (p.Ala533Thr)
|
rs776005101
|
0.00001
|
NM_000334.4(SCN4A):c.172T>C (p.Leu58=)
|
rs566620453
|
0.00001
|
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala)
|
rs1289461335
|
0.00001
|
NM_000334.4(SCN4A):c.1773C>A (p.Asn591Lys)
|
rs768087254
|
0.00001
|
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)
|
rs80338784
|
0.00001
|
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)
|
rs779890709
|
0.00001
|
NM_000334.4(SCN4A):c.282C>T (p.Ile94=)
|
rs563602704
|
0.00001
|
NM_000334.4(SCN4A):c.393-1C>T
|
rs1199378574
|
0.00001
|
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu)
|
rs781033413
|
0.00001
|
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln)
|
rs777130479
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)
|
rs865887222
|
0.00001
|
NM_000334.4(SCN4A):c.706C>G (p.Leu236Val)
|
rs1253475807
|
0.00001
|
NM_000334.4(SCN4A):c.718G>A (p.Val240Met)
|
rs746216167
|
0.00001
|
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu)
|
rs751884584
|
0.00001
|
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)
|
rs746749167
|
0.00001
|
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp)
|
rs756059775
|
0.00001
|
NM_000334.4(SCN4A):c.-2G>T
|
|
|
NM_000334.4(SCN4A):c.1036+75dup
|
rs11418006
|
|
NM_000334.4(SCN4A):c.1036+89del
|
rs11418006
|
|
NM_000334.4(SCN4A):c.1037-156G>A
|
rs74380139
|
|
NM_000334.4(SCN4A):c.1037-1G>A
|
|
|
NM_000334.4(SCN4A):c.1038G>A (p.Gly346=)
|
|
|
NM_000334.4(SCN4A):c.1068T>C (p.Asp356=)
|
rs778654878
|
|
NM_000334.4(SCN4A):c.112C>T (p.Arg38Trp)
|
|
|
NM_000334.4(SCN4A):c.1133C>T (p.Thr378Ile)
|
rs1555604367
|
|
NM_000334.4(SCN4A):c.1163G>C (p.Ser388Thr)
|
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.1242+105G>C
|
rs2009051
|
|
NM_000334.4(SCN4A):c.1242+9del
|
rs1555604336
|
|
NM_000334.4(SCN4A):c.1282G>A (p.Val428Met)
|
rs532921435
|
|
NM_000334.4(SCN4A):c.1298T>C (p.Leu433Pro)
|
|
|
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)
|
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.1336G>T (p.Val446Leu)
|
|
|
NM_000334.4(SCN4A):c.1339G>T (p.Ala447Ser)
|
|
|
NM_000334.4(SCN4A):c.1343T>A (p.Met448Lys)
|
rs768617159
|
|
NM_000334.4(SCN4A):c.1426A>G (p.Lys476Glu)
|
|
|
NM_000334.4(SCN4A):c.1441_1442delinsTT (p.Glu481Leu)
|
rs1555604122
|
|
NM_000334.4(SCN4A):c.1473G>A (p.Leu491=)
|
|
|
NM_000334.4(SCN4A):c.1499C>A (p.Pro500Gln)
|
|
|
NM_000334.4(SCN4A):c.1532_1539delinsCTGAAGTT (p.Asp511_Ser513delinsAlaGluVal)
|
|
|
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg)
|
rs1003243368
|
|
NM_000334.4(SCN4A):c.1543G>T (p.Gly515Trp)
|
|
|
NM_000334.4(SCN4A):c.1559C>A (p.Pro520Gln)
|
rs753391449
|
|
NM_000334.4(SCN4A):c.1569C>T (p.Ser523=)
|
rs752731993
|
|
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser)
|
rs143457794
|
|
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)
|
rs143457794
|
|
NM_000334.4(SCN4A):c.1606+236A>G
|
rs9904789
|
|
NM_000334.4(SCN4A):c.1606+254C>G
|
rs146000148
|
|
NM_000334.4(SCN4A):c.1642T>C (p.Trp548Arg)
|
rs1001051115
|
|
NM_000334.4(SCN4A):c.1657C>G (p.His553Asp)
|
|
|
NM_000334.4(SCN4A):c.1659C>G (p.His553Gln)
|
|
|
NM_000334.4(SCN4A):c.1688C>A (p.Pro563Gln)
|
|
|
NM_000334.4(SCN4A):c.1688C>T (p.Pro563Leu)
|
|
|
NM_000334.4(SCN4A):c.1696A>C (p.Lys566Gln)
|
|
|
NM_000334.4(SCN4A):c.1727T>C (p.Met576Thr)
|
|
|
NM_000334.4(SCN4A):c.1733C>T (p.Pro578Leu)
|
rs1370498653
|
|
NM_000334.4(SCN4A):c.1791G>A (p.Met597Ile)
|
rs1909243373
|
|
NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)
|
|
|
NM_000334.4(SCN4A):c.1835T>A (p.Val612Glu)
|
rs926617193
|
|
NM_000334.4(SCN4A):c.1845+166del
|
rs58426251
|
|
NM_000334.4(SCN4A):c.1845+18A>G
|
rs775429476
|
|
NM_000334.4(SCN4A):c.1845+7A>G
|
rs141021600
|
|
NM_000334.4(SCN4A):c.1846-6C>A
|
rs190853310
|
|
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
|
|
|
NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)
|
|
|
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val)
|
rs1480788895
|
|
NM_000334.4(SCN4A):c.1921G>A (p.Gly641Ser)
|
|
|
NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp)
|
rs778197344
|
|
NM_000334.4(SCN4A):c.1946T>C (p.Ile649Thr)
|
rs1191281164
|
|
NM_000334.4(SCN4A):c.1988A>G (p.Gln663Arg)
|
rs2144795520
|
|
NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup)
|
rs1555603364
|
|
NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu)
|
rs1057524290
|
|
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr)
|
rs376505442
|
|
NM_000334.4(SCN4A):c.266A>G (p.Asn89Ser)
|
|
|
NM_000334.4(SCN4A):c.268_269del (p.Lys90fs)
|
rs1567829776
|
|
NM_000334.4(SCN4A):c.279C>G (p.Phe93Leu)
|
rs374574341
|
|
NM_000334.4(SCN4A):c.296G>T (p.Gly99Val)
|
rs2143026945
|
|
NM_000334.4(SCN4A):c.301G>A (p.Ala101Thr)
|
|
|
NM_000334.4(SCN4A):c.304A>G (p.Ile102Val)
|
|
|
NM_000334.4(SCN4A):c.314T>C (p.Phe105Ser)
|
rs1347004471
|
|
NM_000334.4(SCN4A):c.325C>T (p.Pro109Ser)
|
|
|
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
|
|
|
NM_000334.4(SCN4A):c.349T>C (p.Phe117Leu)
|
rs1567829697
|
|
NM_000334.4(SCN4A):c.377A>G (p.Lys126Arg)
|
rs1909639891
|
|
NM_000334.4(SCN4A):c.38G>A (p.Gly13Asp)
|
|
|
NM_000334.4(SCN4A):c.393-6C>A
|
rs373185863
|
|
NM_000334.4(SCN4A):c.483-5C>A
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-5C>G
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-5C>T
|
rs191547933
|
|
NM_000334.4(SCN4A):c.483-9C>A
|
rs201552497
|
|
NM_000334.4(SCN4A):c.503A>T (p.Tyr168Phe)
|
|
|
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser)
|
rs772628295
|
|
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
|
|
|
NM_000334.4(SCN4A):c.592T>C (p.Phe198Leu)
|
rs1438145853
|
|
NM_000334.4(SCN4A):c.607A>G (p.Met203Val)
|
|
|
NM_000334.4(SCN4A):c.612-7T>C
|
rs1279854411
|
|
NM_000334.4(SCN4A):c.612-94G>A
|
rs2302237
|
|
NM_000334.4(SCN4A):c.619A>G (p.Thr207Ala)
|
rs1567829142
|
|
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)
|
rs1555604867
|
|
NM_000334.4(SCN4A):c.671T>A (p.Leu224Gln)
|
|
|
NM_000334.4(SCN4A):c.704-6G>A
|
|
|
NM_000334.4(SCN4A):c.704-6G>C
|
rs368225907
|
|
NM_000334.4(SCN4A):c.713C>A (p.Thr238Lys)
|
rs201661188
|
|
NM_000334.4(SCN4A):c.724G>T (p.Ala242Ser)
|
|
|
NM_000334.4(SCN4A):c.724_725delinsAA (p.Ala242Asn)
|
|
|
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro)
|
rs1057521065
|
|
NM_000334.4(SCN4A):c.781C>A (p.Leu261Met)
|
rs1597985492
|
|
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu)
|
rs749502925
|
|
NM_000334.4(SCN4A):c.806T>C (p.Leu269Pro)
|
rs2144810150
|
|
NM_000334.4(SCN4A):c.844C>T (p.Arg282Cys)
|
|
|
NM_000334.4(SCN4A):c.86A>G (p.Glu29Gly)
|
|
|
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
|
|
|
NM_000334.4(SCN4A):c.896C>T (p.Thr299Met)
|
|
|
NM_000334.4(SCN4A):c.913_948dup (p.Asp316_Ser317insThrTrpTyrGlyAsnGluMetTrpTyrGlyAsnAsp)
|
|
|
NM_000334.4(SCN4A):c.916T>G (p.Trp306Gly)
|
|
|
NM_000334.4(SCN4A):c.923G>A (p.Gly308Asp)
|
|
|
NM_000334.4(SCN4A):c.92G>A (p.Arg31Gln)
|
|
|
NM_000334.4(SCN4A):c.954G>T (p.Trp318Cys)
|
rs779130822
|
|
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu)
|
rs765525226
|
|
NM_000334.4(SCN4A):c.968C>G (p.Thr323Arg)
|
|
|
NM_000334.4(SCN4A):c.977G>T (p.Ser326Ile)
|
|
|