NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_001382.4(DPAGT1):c.918-18G>A
|
rs145206990
|
0.00859
|
NM_198576.4(AGRN):c.738C>T (p.Asp246=)
|
rs536085218
|
0.00811
|
NM_000334.4(SCN4A):c.1606+20G>A
|
rs73326363
|
0.00787
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_000334.4(SCN4A):c.3720+9G>T
|
rs9303466
|
0.00769
|
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)
|
rs34364382
|
0.00753
|
NM_000334.4(SCN4A):c.3441+7G>A
|
rs142270113
|
0.00738
|
NM_198576.4(AGRN):c.1603+19G>A
|
rs115191992
|
0.00697
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=)
|
rs113277954
|
0.00347
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000334.4(SCN4A):c.1453-4A>G
|
rs111818485
|
0.00209
|
NM_000334.4(SCN4A):c.3774+7C>T
|
rs199659791
|
0.00149
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)
|
rs114900922
|
0.00070
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser)
|
rs78592515
|
0.00054
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)
|
rs201793080
|
0.00053
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr)
|
rs764134362
|
0.00046
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val)
|
rs200834218
|
0.00041
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)
|
rs141213903
|
0.00038
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_000334.4(SCN4A):c.1607-17T>C
|
rs202103551
|
0.00032
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile)
|
rs367988986
|
0.00027
|
NM_000334.4(SCN4A):c.845G>A (p.Arg282His)
|
rs200615763
|
0.00025
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)
|
rs201585639
|
0.00025
|
NM_000334.4(SCN4A):c.1101-16C>T
|
rs376459843
|
0.00024
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
|
rs201414160
|
0.00022
|
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=)
|
rs368024629
|
0.00021
|
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)
|
rs200517944
|
0.00021
|
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln)
|
rs760649578
|
0.00021
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)
|
rs145422541
|
0.00020
|
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=)
|
rs372002602
|
0.00019
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val)
|
rs199859508
|
0.00018
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
NM_000334.4(SCN4A):c.3318+20C>G
|
rs368263593
|
0.00017
|
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys)
|
rs61749460
|
0.00017
|
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met)
|
rs148535388
|
0.00017
|
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile)
|
rs140517911
|
0.00016
|
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn)
|
rs148315419
|
0.00015
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00014
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)
|
rs147609642
|
0.00014
|
NM_002334.4(LRP4):c.605G>A (p.Arg202His)
|
rs149056824
|
0.00014
|
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)
|
rs757968612
|
0.00013
|
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe)
|
rs762311521
|
0.00013
|
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)
|
rs149435615
|
0.00013
|
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn)
|
rs761589948
|
0.00012
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)
|
rs147936148
|
0.00011
|
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met)
|
rs200481981
|
0.00011
|
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala)
|
rs372635510
|
0.00011
|
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)
|
rs143444937
|
0.00011
|
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg)
|
rs193247849
|
0.00011
|
NM_002334.4(LRP4):c.788G>A (p.Arg263His)
|
rs149906323
|
0.00011
|
NM_005055.5(RAPSN):c.-23G>A
|
rs370356548
|
0.00011
|
NM_000334.4(SCN4A):c.1607-20T>C
|
rs374159735
|
0.00010
|
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile)
|
rs368984178
|
0.00010
|
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys)
|
rs146660159
|
0.00010
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln)
|
rs146372809
|
0.00010
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)
|
rs148078235
|
0.00010
|
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)
|
rs181494727
|
0.00009
|
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=)
|
rs776552053
|
0.00009
|
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=)
|
rs375349902
|
0.00009
|
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=)
|
rs540328974
|
0.00009
|
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp)
|
rs200623154
|
0.00009
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)
|
rs370091369
|
0.00009
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)
|
rs377204138
|
0.00009
|
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys)
|
rs200465829
|
0.00009
|
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)
|
rs199864231
|
0.00009
|
NM_000334.4(SCN4A):c.1845+12del
|
rs756462178
|
0.00008
|
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=)
|
rs760183656
|
0.00008
|
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
|
rs763827415
|
0.00008
|
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=)
|
rs186181122
|
0.00008
|
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)
|
rs371961330
|
0.00008
|
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met)
|
rs774275092
|
0.00008
|
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln)
|
rs374446143
|
0.00007
|
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)
|
rs753182664
|
0.00007
|
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp)
|
rs140528156
|
0.00007
|
NM_002334.4(LRP4):c.3277+5G>T
|
rs374900441
|
0.00007
|
NM_002334.4(LRP4):c.4075T>A (p.Ser1359Thr)
|
rs775159238
|
0.00007
|
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val)
|
rs912512352
|
0.00006
|
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=)
|
rs150307926
|
0.00006
|
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg)
|
rs377572814
|
0.00006
|
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser)
|
rs571210585
|
0.00006
|
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
|
rs368186423
|
0.00006
|
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)
|
rs1045422843
|
0.00006
|
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)
|
rs373804267
|
0.00006
|
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg)
|
rs778802285
|
0.00006
|
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe)
|
rs368999500
|
0.00006
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)
|
rs148856658
|
0.00006
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)
|
rs770309253
|
0.00006
|
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)
|
rs761403316
|
0.00006
|
NM_002334.4(LRP4):c.676+4A>G
|
rs759630167
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=)
|
rs760067411
|
0.00005
|
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln)
|
rs202155883
|
0.00005
|
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr)
|
rs369652972
|
0.00005
|
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=)
|
rs773864470
|
0.00005
|
NM_000334.4(SCN4A):c.704-8G>A
|
rs762393514
|
0.00005
|
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu)
|
rs762837686
|
0.00005
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter)
|
rs147138337
|
0.00005
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)
|
rs770633491
|
0.00005
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
NM_173660.5(DOK7):c.968G>A (p.Arg323His)
|
rs763188032
|
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.1583G>T (p.Ser528Ile)
|
rs906634749
|
0.00004
|
NM_000334.4(SCN4A):c.1606+3G>T
|
rs377617612
|
0.00004
|
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg)
|
rs767603831
|
0.00004
|
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=)
|
rs80266947
|
0.00004
|
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg)
|
rs886053249
|
0.00004
|
NM_000334.4(SCN4A):c.2376+10G>A
|
rs1194053149
|
0.00004
|
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=)
|
rs201346556
|
0.00004
|
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val)
|
rs367610608
|
0.00004
|
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=)
|
rs538968877
|
0.00004
|
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser)
|
rs957397485
|
0.00004
|
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser)
|
rs766365683
|
0.00004
|
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser)
|
rs751749964
|
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.939C>T (p.Tyr313=)
|
rs761930114
|
0.00004
|
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)
|
rs148456240
|
0.00004
|
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser)
|
rs765602909
|
0.00004
|
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)
|
rs376848284
|
0.00004
|
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)
|
rs748636802
|
0.00004
|
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)
|
rs369916883
|
0.00004
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
NM_002334.4(LRP4):c.761C>T (p.Ala254Val)
|
rs767281769
|
0.00004
|
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)
|
rs372865599
|
0.00004
|
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)
|
rs369570812
|
0.00004
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)
|
rs746404398
|
0.00003
|
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys)
|
rs746256985
|
0.00003
|
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr)
|
rs1346442665
|
0.00003
|
NM_000334.4(SCN4A):c.3318+15G>A
|
rs371928013
|
0.00003
|
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His)
|
rs924313348
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=)
|
rs267604989
|
0.00003
|
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His)
|
rs776355318
|
0.00003
|
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=)
|
rs372442108
|
0.00003
|
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser)
|
rs774821803
|
0.00003
|
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=)
|
rs774089795
|
0.00003
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val)
|
rs748599327
|
0.00003
|
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn)
|
rs1015807829
|
0.00003
|
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)
|
rs758511540
|
0.00003
|
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp)
|
rs763866848
|
0.00003
|
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp)
|
rs865873054
|
0.00003
|
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)
|
rs563035306
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)
|
rs368744612
|
0.00003
|
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val)
|
rs761341366
|
0.00003
|
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)
|
rs749792822
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)
|
rs767372563
|
0.00003
|
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)
|
rs1035754612
|
0.00003
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly)
|
rs754105518
|
0.00003
|
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)
|
rs540580770
|
0.00003
|
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)
|
rs754001856
|
0.00002
|
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)
|
rs753756406
|
0.00002
|
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His)
|
rs776665275
|
0.00002
|
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.181G>A (p.Gly61Ser)
|
rs759771825
|
0.00002
|
NM_000334.4(SCN4A):c.1845+11G>T
|
rs761523703
|
0.00002
|
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His)
|
rs556099012
|
0.00002
|
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)
|
rs899627353
|
0.00002
|
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys)
|
rs780708338
|
0.00002
|
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
|
rs770588235
|
0.00002
|
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
|
rs544082594
|
0.00002
|
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp)
|
rs772071113
|
0.00002
|
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile)
|
rs967530693
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr)
|
rs369886445
|
0.00002
|
NM_000334.4(SCN4A):c.483-7C>T
|
rs780933125
|
0.00002
|
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)
|
rs774183791
|
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.863A>G (p.Asn288Ser)
|
rs771965654
|
0.00002
|
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)
|
rs200986371
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)
|
rs143207358
|
0.00002
|
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)
|
rs749530671
|
0.00002
|
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg)
|
rs139901577
|
0.00002
|
NM_002334.4(LRP4):c.2747G>A (p.Arg916His)
|
rs752315031
|
0.00002
|
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser)
|
rs765716290
|
0.00002
|
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)
|
rs754092006
|
0.00002
|
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val)
|
rs764853604
|
0.00002
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)
|
rs546318025
|
0.00002
|
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)
|
rs774058346
|
0.00002
|
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)
|
rs367608390
|
0.00002
|
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)
|
rs778676466
|
0.00002
|
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys)
|
rs772004553
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)
|
rs1380619456
|
0.00002
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)
|
rs115964813
|
0.00002
|
NM_173660.5(DOK7):c.1226G>A (p.Arg409His)
|
rs377528603
|
0.00002
|
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)
|
rs563299889
|
0.00002
|
NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn)
|
rs755342940
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)
|
rs1344336890
|
0.00001
|
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr)
|
rs1174261819
|
0.00001
|
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val)
|
rs566340596
|
0.00001
|
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys)
|
rs751390409
|
0.00001
|
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln)
|
rs1240011068
|
0.00001
|
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=)
|
rs373819078
|
0.00001
|
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr)
|
rs552714913
|
0.00001
|
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn)
|
rs1415316385
|
0.00001
|
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)
|
rs1208231013
|
0.00001
|
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr)
|
rs370438278
|
0.00001
|
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr)
|
rs372436021
|
0.00001
|
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)
|
rs543151915
|
0.00001
|
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys)
|
rs1472308847
|
0.00001
|
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg)
|
rs762279435
|
0.00001
|
NM_000334.4(SCN4A):c.228C>T (p.Ile76=)
|
rs1189122757
|
0.00001
|
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=)
|
rs367936207
|
0.00001
|
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)
|
rs760713282
|
0.00001
|
NM_000334.4(SCN4A):c.273+7G>A
|
rs369039376
|
0.00001
|
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr)
|
rs752200039
|
0.00001
|
NM_000334.4(SCN4A):c.2853+7C>T
|
rs760934874
|
0.00001
|
NM_000334.4(SCN4A):c.2854-19G>A
|
rs1280578508
|
0.00001
|
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=)
|
rs372555830
|
0.00001
|
NM_000334.4(SCN4A):c.2990-4T>A
|
rs1346938988
|
0.00001
|
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val)
|
rs760962949
|
0.00001
|
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)
|
rs371779795
|
0.00001
|
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val)
|
rs554349260
|
0.00001
|
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr)
|
rs772835617
|
0.00001
|
NM_000334.4(SCN4A):c.3145-5C>A
|
rs750109872
|
0.00001
|
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val)
|
rs773489142
|
0.00001
|
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn)
|
rs780268341
|
0.00001
|
NM_000334.4(SCN4A):c.3720+7G>A
|
rs553870552
|
0.00001
|
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys)
|
rs1398605254
|
0.00001
|
NM_000334.4(SCN4A):c.393-1C>T
|
rs1199378574
|
0.00001
|
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile)
|
rs774789710
|
0.00001
|
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile)
|
rs943905262
|
0.00001
|
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met)
|
rs774452124
|
0.00001
|
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser)
|
rs770398125
|
0.00001
|
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)
|
rs748620733
|
0.00001
|
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln)
|
rs962610601
|
0.00001
|
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)
|
rs758113478
|
0.00001
|
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val)
|
rs1465376529
|
0.00001
|
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu)
|
rs781033413
|
0.00001
|
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val)
|
rs527928131
|
0.00001
|
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile)
|
rs1480989482
|
0.00001
|
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=)
|
rs756370516
|
0.00001
|
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn)
|
rs540950122
|
0.00001
|
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe)
|
rs770063781
|
0.00001
|
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser)
|
rs774530569
|
0.00001
|
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=)
|
rs766569872
|
0.00001
|
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys)
|
rs377673196
|
0.00001
|
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln)
|
rs777130479
|
0.00001
|
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
|
rs749251685
|
0.00001
|
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His)
|
rs773666497
|
0.00001
|
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp)
|
rs1300925199
|
0.00001
|
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile)
|
rs554836244
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp)
|
rs756059775
|
0.00001
|
NM_000751.3(CHRND):c.132C>G (p.Pro44=)
|
rs774771779
|
0.00001
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys)
|
rs1446754894
|
0.00001
|
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)
|
rs776484311
|
0.00001
|
NM_002334.4(LRP4):c.1184-1G>A
|
rs1941502709
|
0.00001
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)
|
rs143481229
|
0.00001
|
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)
|
rs201502598
|
0.00001
|
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)
|
rs760105990
|
0.00001
|
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg)
|
rs748357296
|
0.00001
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)
|
rs752512047
|
0.00001
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)
|
rs777222715
|
0.00001
|
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)
|
rs545112106
|
0.00001
|
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)
|
rs190872977
|
0.00001
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
NM_002334.4(LRP4):c.2593G>A (p.Val865Met)
|
rs765202931
|
0.00001
|
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)
|
rs776260999
|
0.00001
|
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)
|
rs147259655
|
0.00001
|
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp)
|
rs368011278
|
0.00001
|
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)
|
rs757565682
|
0.00001
|
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)
|
rs201695857
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln)
|
rs150306458
|
0.00001
|
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=)
|
rs767837337
|
0.00001
|
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu)
|
rs1189743163
|
0.00001
|
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)
|
rs752888601
|
0.00001
|
NM_002334.4(LRP4):c.3699+5G>C
|
rs745544336
|
0.00001
|
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)
|
rs371205300
|
0.00001
|
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)
|
rs771126504
|
0.00001
|
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln)
|
rs770974209
|
0.00001
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe)
|
rs61738061
|
0.00001
|
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His)
|
rs777932389
|
0.00001
|
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)
|
rs764079526
|
0.00001
|
NM_002334.4(LRP4):c.4503G>C (p.Leu1501Phe)
|
rs375220795
|
0.00001
|
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)
|
rs756543033
|
0.00001
|
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile)
|
rs779299308
|
0.00001
|
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser)
|
rs765567296
|
0.00001
|
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)
|
rs368840169
|
0.00001
|
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala)
|
rs773770584
|
0.00001
|
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile)
|
rs1272838959
|
0.00001
|
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)
|
rs766845970
|
0.00001
|
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val)
|
rs761730497
|
0.00001
|
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr)
|
rs772147307
|
0.00001
|
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val)
|
rs1351029450
|
0.00001
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)
|
rs775422356
|
0.00001
|
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)
|
rs1064793397
|
|
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)
|
rs1019584942
|
|
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)
|
rs752226476
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile)
|
rs771950733
|
|
NM_000080.4(CHRNE):c.602-4_602-3delinsTT
|
rs1597619689
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu)
|
rs532921435
|
|
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)
|
rs121908552
|
|
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg)
|
rs1003243368
|
|
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu)
|
rs778649637
|
|
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.1711A>G (p.Ile571Val)
|
rs1703227330
|
|
NM_000334.4(SCN4A):c.1845+18A>T
|
rs775429476
|
|
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val)
|
rs1480788895
|
|
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met)
|
rs1487941051
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=)
|
rs754110462
|
|
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp)
|
rs1028907866
|
|
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del)
|
rs776181227
|
|
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)
|
rs760403755
|
|
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr)
|
rs370879135
|
|
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln)
|
rs867372759
|
|
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys)
|
rs1185395150
|
|
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=)
|
rs530640921
|
|
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys)
|
rs1351279439
|
|
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu)
|
rs147610324
|
|
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu)
|
rs374529559
|
|
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=)
|
rs574892874
|
|
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.393-6C>A
|
rs373185863
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu)
|
rs578214396
|
|
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)
|
rs774789710
|
|
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
|
rs118047588
|
|
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu)
|
rs543502873
|
|
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser)
|
rs773541890
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)
|
rs886041805
|
|
NM_000334.4(SCN4A):c.483-3C>G
|
rs759754258
|
|
NM_000334.4(SCN4A):c.483-4C>G
|
rs200062384
|
|
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)
|
rs770647690
|
|
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=)
|
rs373804267
|
|
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)
|
rs758293600
|
|
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del)
|
rs781515976
|
|
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=)
|
rs754357879
|
|
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met)
|
rs1567815577
|
|
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser)
|
rs772628295
|
|
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser)
|
rs781129876
|
|
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu)
|
rs765525226
|
|
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)
|
rs1691584182
|
|
NM_001368882.1(COL13A1):c.999+5G>A
|
rs200322111
|
|
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)
|
rs1164240481
|
|
NM_002334.4(LRP4):c.1492A>C (p.Asn498His)
|
rs750371073
|
|
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter)
|
rs1479002757
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
NM_002334.4(LRP4):c.2428G>A (p.Val810Ile)
|
rs1246395979
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
NM_002334.4(LRP4):c.3925+3G>A
|
rs1217353454
|
|
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)
|
rs267607222
|
|
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)
|
rs765240067
|
|
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)
|
rs886048349
|
|
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)
|
rs886048348
|
|
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)
|
rs1346806071
|
|
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)
|
rs1455143794
|
|
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)
|
rs560103351
|
|
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)
|
rs769465803
|
|
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr)
|
rs2134862174
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
|
rs1828729293
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|