NM_002334.4(LRP4):c.1623T>C (p.Asp541=)
|
rs10769215
|
0.99630
|
NM_002334.4(LRP4):c.1638A>G (p.Lys546=)
|
rs10838631
|
0.98127
|
NM_198576.4(AGRN):c.1178-6T>C
|
rs2799066
|
0.86601
|
NM_020549.5(CHAT):c.1641T>C (p.His547=)
|
rs8178992
|
0.82309
|
NM_198576.4(AGRN):c.3558T>C (p.Phe1186=)
|
rs10267
|
0.80748
|
NM_198576.4(AGRN):c.3066A>G (p.Ser1022=)
|
rs2465128
|
0.79176
|
NM_198576.4(AGRN):c.3517-12T>C
|
rs3128102
|
0.78058
|
NM_198576.4(AGRN):c.5651+5C>T
|
rs9803031
|
0.77551
|
NM_130811.4(SNAP25):c.*239G>T
|
rs3746544
|
0.67678
|
NM_001244710.2(GFPT1):c.1105+7A>G
|
rs6722492
|
0.65895
|
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=)
|
rs7111873
|
0.61686
|
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=)
|
rs7126210
|
0.61595
|
NM_198576.4(AGRN):c.6057C>T (p.Asp2019=)
|
rs4275402
|
0.58285
|
NM_001244710.2(GFPT1):c.7+36T>C
|
rs6720415
|
0.57447
|
NM_130811.4(SNAP25):c.-63-21820G>A
|
rs363050
|
0.56821
|
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)
|
rs6485702
|
0.50674
|
NM_198576.4(AGRN):c.4161T>C (p.Thr1387=)
|
rs9442391
|
0.49370
|
NM_005677.4(COLQ):c.815-1064G>A
|
rs7620149
|
0.46664
|
NM_198576.4(AGRN):c.4745-17C>T
|
rs2275813
|
0.43854
|
NM_198576.4(AGRN):c.1385-15_1385-14del
|
rs35881187
|
0.42851
|
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)
|
rs2306029
|
0.42236
|
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
|
rs643788
|
0.38193
|
NM_198576.4(AGRN):c.45G>T (p.Pro15=)
|
rs115173026
|
0.30814
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)
|
rs17856697
|
0.24673
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=)
|
rs33978919
|
0.18524
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)
|
rs3810950
|
0.17408
|
NM_020549.5(CHAT):c.287-431G>A
|
rs1880676
|
0.17399
|
NM_000747.3(CHRNB1):c.1365+17T>C
|
rs2302763
|
0.16546
|
NM_000747.3(CHRNB1):c.610+6T>C
|
rs2302765
|
0.16463
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
NM_000080.4(CHRNE):c.917+15C>G
|
rs12942540
|
0.16257
|
NM_021815.5(SLC5A7):c.741+18C>T
|
rs3731684
|
0.13300
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
NM_173660.5(DOK7):c.101-11G>A
|
rs2344209
|
0.13238
|
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)
|
rs2290883
|
0.12958
|
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)
|
rs2306033
|
0.12951
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
NM_005055.5(RAPSN):c.193-15C>T
|
rs45547231
|
0.11254
|
NM_130811.4(SNAP25):c.330C>T (p.Asp110=)
|
rs362998
|
0.10905
|
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
|
rs45603036
|
0.10742
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys)
|
rs34312154
|
0.08810
|
NM_198576.4(AGRN):c.5358T>C (p.Gly1786=)
|
rs17160781
|
0.08292
|
NM_144988.4(ALG14):c.137-18T>A
|
rs12751061
|
0.07764
|
NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val)
|
rs1013940
|
0.07497
|
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=)
|
rs55681486
|
0.07419
|
NM_000080.4(CHRNE):c.345-7C>T
|
rs72835059
|
0.07330
|
NM_000080.4(CHRNE):c.1033-6C>T
|
rs2075763
|
0.06582
|
NM_198576.4(AGRN):c.4514+16G>C
|
rs112917612
|
0.06389
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)
|
rs7926667
|
0.05542
|
NM_002334.4(LRP4):c.1695G>A (p.Glu565=)
|
rs61741501
|
0.05533
|
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro)
|
rs11545137
|
0.05446
|
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)
|
rs35626507
|
0.05444
|
NM_002334.4(LRP4):c.813G>A (p.Thr271=)
|
rs879721
|
0.05245
|
NM_005677.4(COLQ):c.934A>G (p.Ser312Gly)
|
rs6782980
|
0.05224
|
NM_198576.4(AGRN):c.3516+10G>C
|
rs76264143
|
0.05034
|
NM_001171613.2(PREPL):c.143-19C>T
|
rs10514790
|
0.04940
|
NM_001171613.2(PREPL):c.-49+1898A>G
|
rs77060839
|
0.04787
|
NM_198576.4(AGRN):c.4996G>A (p.Val1666Ile)
|
rs17160775
|
0.04750
|
NM_005592.4(MUSK):c.207-20T>C
|
rs71501643
|
0.04718
|
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)
|
rs8178990
|
0.04717
|
NM_198576.4(AGRN):c.804C>T (p.Ala268=)
|
rs113789806
|
0.04656
|
NM_173660.5(DOK7):c.753G>A (p.Ala251=)
|
rs59932476
|
0.04559
|
NM_002334.4(LRP4):c.129C>G (p.Thr43=)
|
rs61742974
|
0.04439
|
NM_005677.4(COLQ):c.366+7A>G
|
rs750387
|
0.04329
|
NM_198576.4(AGRN):c.5070C>T (p.Phe1690=)
|
rs17160776
|
0.04120
|
NM_000080.4(CHRNE):c.519C>T (p.Ala173=)
|
rs33970119
|
0.03958
|
NM_001171613.2(PREPL):c.225T>A (p.Ala75=)
|
rs72875319
|
0.03485
|
NM_002334.4(LRP4):c.1501A>C (p.Asn501His)
|
rs72897663
|
0.03190
|
NM_198576.4(AGRN):c.261C>T (p.Asp87=)
|
rs6657048
|
0.02966
|
NM_198576.4(AGRN):c.2183A>T (p.Glu728Val)
|
rs113288277
|
0.02946
|
NM_002334.4(LRP4):c.4837+10C>T
|
rs74806847
|
0.02807
|
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val)
|
rs4790235
|
0.02635
|
NM_198576.4(AGRN):c.2555A>G (p.Gln852Arg)
|
rs9697293
|
0.02583
|
NM_005677.4(COLQ):c.556-15A>G
|
rs57376327
|
0.02543
|
NM_005677.4(COLQ):c.1248C>T (p.Asp416=)
|
rs55866379
|
0.02373
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_198576.4(AGRN):c.2254+16G>A
|
rs114389542
|
0.02329
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_020549.5(CHAT):c.1674C>T (p.Ser558=)
|
rs7073028
|
0.02218
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)
|
rs3810948
|
0.02150
|
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)
|
rs61733844
|
0.02133
|
NM_020549.5(CHAT):c.1281+16G>A
|
rs61132699
|
0.02037
|
NM_020549.5(CHAT):c.1131G>A (p.Ser377=)
|
rs115126024
|
0.02036
|
NM_000080.4(CHRNE):c.45C>T (p.Leu15=)
|
rs34563587
|
0.02026
|
NM_020549.5(CHAT):c.1122C>T (p.Asn374=)
|
rs61115650
|
0.02026
|
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu)
|
rs57878668
|
0.01874
|
NM_198576.4(AGRN):c.4298+17C>T
|
rs188005130
|
0.01868
|
NM_033087.4(ALG2):c.129C>G (p.Arg43=)
|
rs35055733
|
0.01831
|
NM_198576.4(AGRN):c.4977-10A>G
|
rs142286944
|
0.01828
|
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)
|
rs117936904
|
0.01806
|
NM_130811.4(SNAP25):c.553-4C>T
|
rs79020892
|
0.01788
|
NM_198576.4(AGRN):c.1058A>G (p.Gln353Arg)
|
rs150359724
|
0.01713
|
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)
|
rs118009068
|
0.01699
|
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=)
|
rs2230300
|
0.01692
|
NM_198576.4(AGRN):c.202-13A>G
|
rs115704555
|
0.01660
|
NM_198576.4(AGRN):c.4740C>T (p.Arg1580=)
|
rs115019873
|
0.01570
|
NM_020549.5(CHAT):c.903T>C (p.Pro301=)
|
rs113897064
|
0.01548
|
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)
|
rs7023652
|
0.01515
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_000747.3(CHRNB1):c.821-9C>T
|
rs76001008
|
0.01413
|
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln)
|
rs34625105
|
0.01344
|
NM_198576.4(AGRN):c.11G>C (p.Arg4Pro)
|
rs539283387
|
0.01336
|
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)
|
rs8178991
|
0.01308
|
NM_002334.4(LRP4):c.431-12G>A
|
rs139371503
|
0.01289
|
NM_173660.5(DOK7):c.653-19A>C
|
rs191981243
|
0.01231
|
NM_001244710.2(GFPT1):c.408+7A>T
|
rs112682152
|
0.01229
|
NM_198576.4(AGRN):c.3570C>T (p.Arg1190=)
|
rs75361935
|
0.01197
|
NM_198576.4(AGRN):c.2025C>G (p.Gly675=)
|
rs28484890
|
0.01118
|
NM_198576.4(AGRN):c.2406C>T (p.Gly802=)
|
rs75774767
|
0.01095
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_198576.4(AGRN):c.4452C>T (p.Thr1484=)
|
rs75767981
|
0.01049
|
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr)
|
rs76927517
|
0.01042
|
NM_001171613.2(PREPL):c.1502A>G (p.Asn501Ser)
|
rs75128515
|
0.01014
|
NM_020549.5(CHAT):c.2067C>T (p.Ile689=)
|
rs3793801
|
0.01009
|
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=)
|
rs78952091
|
0.00975
|
NM_002334.4(LRP4):c.5010G>A (p.Val1670=)
|
rs111426027
|
0.00936
|
NM_198576.4(AGRN):c.729C>G (p.Gly243=)
|
rs191270495
|
0.00922
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_005677.4(COLQ):c.291G>A (p.Ser97=)
|
rs115201284
|
0.00908
|
NM_001382.4(DPAGT1):c.918-18G>A
|
rs145206990
|
0.00859
|
NM_198576.4(AGRN):c.1528G>A (p.Gly510Ser)
|
rs138288952
|
0.00834
|
NM_198576.4(AGRN):c.4695G>C (p.Gln1565His)
|
rs199876002
|
0.00827
|
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
|
rs80097077
|
0.00825
|
NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)
|
rs78925077
|
0.00824
|
NM_021815.5(SLC5A7):c.1245C>T (p.Ile415=)
|
rs149442049
|
0.00818
|
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=)
|
rs114454383
|
0.00816
|
NM_198576.4(AGRN):c.738C>T (p.Asp246=)
|
rs536085218
|
0.00811
|
NM_198576.4(AGRN):c.5223C>T (p.Gly1741=)
|
rs147681220
|
0.00805
|
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp)
|
rs184970403
|
0.00799
|
NM_198576.4(AGRN):c.3972G>A (p.Pro1324=)
|
rs201483077
|
0.00799
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr)
|
rs111818381
|
0.00781
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr)
|
rs34364382
|
0.00753
|
NM_198576.4(AGRN):c.4893C>T (p.Asp1631=)
|
rs139400715
|
0.00732
|
NM_198576.4(AGRN):c.1660G>A (p.Val554Met)
|
rs79016973
|
0.00706
|
NM_198576.4(AGRN):c.5726G>C (p.Ser1909Thr)
|
rs74685771
|
0.00700
|
NM_198576.4(AGRN):c.1603+19G>A
|
rs115191992
|
0.00697
|
NM_001171613.2(PREPL):c.1086+15C>T
|
rs76399930
|
0.00695
|
NM_198576.4(AGRN):c.5598C>T (p.Thr1866=)
|
rs17778478
|
0.00691
|
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn)
|
rs3813188
|
0.00690
|
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)
|
rs61744209
|
0.00677
|
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)
|
rs79843573
|
0.00659
|
NM_198576.4(AGRN):c.3465T>C (p.Ala1155=)
|
rs146358566
|
0.00657
|
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn)
|
rs116373583
|
0.00649
|
NM_198576.4(AGRN):c.3866C>T (p.Pro1289Leu)
|
rs139294803
|
0.00637
|
NM_198576.4(AGRN):c.5353G>A (p.Asp1785Asn)
|
rs144245019
|
0.00636
|
NM_005677.4(COLQ):c.393+11C>T
|
rs909353
|
0.00630
|
NM_001171613.2(PREPL):c.1656A>G (p.Ala552=)
|
rs74395208
|
0.00617
|
NM_001171613.2(PREPL):c.1630-15T>C
|
rs113850456
|
0.00614
|
NM_198576.4(AGRN):c.3404A>G (p.Gln1135Arg)
|
rs142416636
|
0.00588
|
NM_198576.4(AGRN):c.67G>C (p.Val23Leu)
|
rs201073369
|
0.00583
|
NM_198576.4(AGRN):c.1603+10G>A
|
rs60074964
|
0.00575
|
NM_001171613.2(PREPL):c.1855G>A (p.Glu619Lys)
|
rs149012504
|
0.00562
|
NM_001171613.2(PREPL):c.-49+1813A>T
|
rs78349078
|
0.00557
|
NM_198576.4(AGRN):c.5352C>T (p.Phe1784=)
|
rs112073270
|
0.00537
|
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)
|
rs147990356
|
0.00536
|
NM_198576.4(AGRN):c.4976+18del
|
rs368348742
|
0.00532
|
NM_198576.4(AGRN):c.5667G>A (p.Gln1889=)
|
rs115061121
|
0.00532
|
NM_005055.5(RAPSN):c.193-14G>A
|
rs114738594
|
0.00529
|
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser)
|
rs138031468
|
0.00517
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_198576.4(AGRN):c.5201G>A (p.Arg1734His)
|
rs145444272
|
0.00493
|
NM_000747.3(CHRNB1):c.1044+20C>T
|
rs151303014
|
0.00474
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_002334.4(LRP4):c.300G>A (p.Ser100=)
|
rs61745166
|
0.00459
|
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu)
|
rs144620006
|
0.00426
|
NM_000747.3(CHRNB1):c.342G>A (p.Val114=)
|
rs75019736
|
0.00411
|
NM_000747.3(CHRNB1):c.1045-6C>G
|
rs79209506
|
0.00404
|
NM_173660.5(DOK7):c.54+19C>T
|
rs757053604
|
0.00400
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_020549.5(CHAT):c.745C>G (p.Leu249Val)
|
rs115510708
|
0.00392
|
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe)
|
rs76014951
|
0.00391
|
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)
|
rs61746928
|
0.00385
|
NM_020549.5(CHAT):c.896C>T (p.Pro299Leu)
|
rs868749
|
0.00385
|
NM_198576.4(AGRN):c.5896C>T (p.Leu1966=)
|
rs115828965
|
0.00378
|
NM_002334.4(LRP4):c.2151C>T (p.Gly717=)
|
rs114920029
|
0.00361
|
NM_005055.5(RAPSN):c.162G>A (p.Ser54=)
|
rs72905825
|
0.00337
|
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)
|
rs55786136
|
0.00337
|
NM_198576.4(AGRN):c.579G>A (p.Ala193=)
|
rs201301445
|
0.00331
|
NM_021815.5(SLC5A7):c.826C>T (p.Leu276=)
|
rs78245030
|
0.00330
|
NM_002334.4(LRP4):c.2506+18G>A
|
rs148998354
|
0.00327
|
NM_198576.4(AGRN):c.4285C>T (p.Arg1429Cys)
|
rs201346452
|
0.00327
|
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)
|
rs150253578
|
0.00314
|
NM_144988.4(ALG14):c.288+11A>G
|
rs151088933
|
0.00309
|
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)
|
rs150777198
|
0.00307
|
NM_198576.4(AGRN):c.4839C>T (p.Cys1613=)
|
rs113020870
|
0.00302
|
NM_005592.4(MUSK):c.80-8C>T
|
rs199705752
|
0.00301
|
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys)
|
rs143324306
|
0.00297
|
NM_020549.5(CHAT):c.1135G>C (p.Asp379His)
|
rs115212829
|
0.00296
|
NM_198576.4(AGRN):c.2067G>A (p.Gln689=)
|
rs139886237
|
0.00288
|
NM_000080.4(CHRNE):c.1220-5G>A
|
rs188564977
|
0.00287
|
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)
|
rs2799068
|
0.00284
|
NM_198576.4(AGRN):c.1434G>A (p.Thr478=)
|
rs147346337
|
0.00281
|
NM_000080.4(CHRNE):c.918-6C>G
|
rs141408756
|
0.00277
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_033087.4(ALG2):c.84C>G (p.Gly28=)
|
rs61744789
|
0.00268
|
NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys)
|
rs148518738
|
0.00268
|
NM_198576.4(AGRN):c.800C>T (p.Thr267Met)
|
rs566673314
|
0.00265
|
NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln)
|
rs148430436
|
0.00264
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile)
|
rs139521179
|
0.00255
|
NM_021815.5(SLC5A7):c.713A>G (p.Tyr238Cys)
|
rs142776152
|
0.00253
|
NM_005677.4(COLQ):c.789G>A (p.Pro263=)
|
rs150061580
|
0.00251
|
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=)
|
rs144566433
|
0.00249
|
NM_198576.4(AGRN):c.5254-5C>T
|
rs34708466
|
0.00248
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_173660.5(DOK7):c.332-69_332-18del
|
rs1560212382
|
0.00242
|
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu)
|
rs192195094
|
0.00240
|
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)
|
rs79063654
|
0.00237
|
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)
|
rs73458078
|
0.00233
|
NM_198576.4(AGRN):c.5466A>G (p.Ser1822=)
|
rs149659540
|
0.00233
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_198576.4(AGRN):c.773C>T (p.Thr258Ile)
|
rs200607541
|
0.00231
|
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)
|
rs199980106
|
0.00227
|
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=)
|
rs368555478
|
0.00225
|
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)
|
rs61749083
|
0.00221
|
NM_005055.5(RAPSN):c.913-15A>G
|
rs185204384
|
0.00221
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
NM_198576.4(AGRN):c.464-17G>A
|
rs202044171
|
0.00220
|
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg)
|
rs111438719
|
0.00218
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_005055.5(RAPSN):c.960G>A (p.Gly320=)
|
rs145357531
|
0.00216
|
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu)
|
rs116586548
|
0.00216
|
NM_198576.4(AGRN):c.728-15A>C
|
rs550290966
|
0.00215
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
NM_020549.5(CHAT):c.438C>T (p.Tyr146=)
|
rs61731734
|
0.00210
|
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)
|
rs150415034
|
0.00210
|
NM_001171613.2(PREPL):c.687A>G (p.Glu229=)
|
rs113272276
|
0.00209
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_005592.4(MUSK):c.914-14T>G
|
rs146206123
|
0.00207
|
NM_198576.4(AGRN):c.3353C>A (p.Thr1118Lys)
|
rs149159118
|
0.00204
|
NM_198576.4(AGRN):c.494C>T (p.Pro165Leu)
|
rs140954236
|
0.00204
|
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val)
|
rs116836855
|
0.00203
|
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)
|
rs144592743
|
0.00202
|
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=)
|
rs151193377
|
0.00197
|
NM_000747.3(CHRNB1):c.821-16C>G
|
rs371190837
|
0.00193
|
NM_020549.5(CHAT):c.1111+8G>A
|
rs142454032
|
0.00191
|
NM_198576.4(AGRN):c.3719C>T (p.Pro1240Leu)
|
rs142620337
|
0.00191
|
NM_020549.5(CHAT):c.1248C>T (p.Asn416=)
|
rs116071049
|
0.00187
|
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr)
|
rs140990611
|
0.00186
|
NM_198576.4(AGRN):c.3516+14G>A
|
rs201858483
|
0.00185
|
NM_198576.4(AGRN):c.4139G>A (p.Arg1380His)
|
rs183686622
|
0.00183
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_198576.4(AGRN):c.3285C>G (p.Thr1095=)
|
rs149957221
|
0.00179
|
NM_198576.4(AGRN):c.2805+7G>A
|
rs190000918
|
0.00177
|
NM_020549.5(CHAT):c.576C>T (p.Asn192=)
|
rs150236872
|
0.00176
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_020549.5(CHAT):c.789G>A (p.Leu263=)
|
rs114090981
|
0.00172
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_198576.4(AGRN):c.4116C>T (p.Ala1372=)
|
rs200170414
|
0.00170
|
NM_198576.4(AGRN):c.4879+17T>A
|
rs535286672
|
0.00170
|
NM_198576.4(AGRN):c.5647G>A (p.Glu1883Lys)
|
rs139415524
|
0.00167
|
NM_198576.4(AGRN):c.2155G>A (p.Gly719Ser)
|
rs149594498
|
0.00158
|
NM_000747.3(CHRNB1):c.821-20C>T
|
rs112895222
|
0.00155
|
NM_173660.5(DOK7):c.532+18G>A
|
rs200487431
|
0.00153
|
NM_001171613.2(PREPL):c.149A>G (p.Asn50Ser)
|
rs138555092
|
0.00151
|
NM_198576.4(AGRN):c.6074A>G (p.His2025Arg)
|
rs377296839
|
0.00151
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000080.4(CHRNE):c.344+18C>T
|
rs201821934
|
0.00145
|
NM_020549.5(CHAT):c.1391G>A (p.Ser464Asn)
|
rs148525631
|
0.00143
|
NM_198576.4(AGRN):c.3926G>A (p.Arg1309Gln)
|
rs199680125
|
0.00143
|
NM_005677.4(COLQ):c.107-19G>A
|
rs200529572
|
0.00141
|
NM_000747.3(CHRNB1):c.243+14A>G
|
rs376387886
|
0.00138
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
NM_005592.4(MUSK):c.79+11G>A
|
rs139516442
|
0.00138
|
NM_020549.5(CHAT):c.909C>T (p.His303=)
|
rs76570508
|
0.00136
|
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)
|
rs202073484
|
0.00135
|
NM_198576.4(AGRN):c.4821C>T (p.Pro1607=)
|
rs149543827
|
0.00134
|
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=)
|
rs145456588
|
0.00133
|
NM_020549.5(CHAT):c.753-16C>T
|
rs201489027
|
0.00133
|
NM_021815.5(SLC5A7):c.477G>A (p.Val159=)
|
rs143203868
|
0.00133
|
NM_000080.4(CHRNE):c.918-14T>C
|
rs375376258
|
0.00131
|
NM_005677.4(COLQ):c.23C>G (p.Thr8Ser)
|
rs189427175
|
0.00131
|
NM_173660.5(DOK7):c.1008G>A (p.Ser336=)
|
rs185050737
|
0.00131
|
NM_198576.4(AGRN):c.5832C>T (p.Thr1944=)
|
rs143373928
|
0.00131
|
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu)
|
rs79414242
|
0.00129
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_130811.4(SNAP25):c.75G>T (p.Ser25=)
|
rs147866099
|
0.00128
|
NM_002334.4(LRP4):c.4674C>T (p.His1558=)
|
rs61742905
|
0.00127
|
NM_001382.4(DPAGT1):c.918-5C>T
|
rs191573465
|
0.00126
|
NM_005592.4(MUSK):c.1361-12T>C
|
rs115337040
|
0.00125
|
NM_198576.4(AGRN):c.752T>C (p.Val251Ala)
|
rs779170859
|
0.00125
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
NM_000747.3(CHRNB1):c.1044+9G>A
|
rs143871421
|
0.00123
|
NM_033087.4(ALG2):c.288C>T (p.Phe96=)
|
rs542863968
|
0.00121
|
NM_005677.4(COLQ):c.106+6T>C
|
rs201376373
|
0.00119
|
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp)
|
rs144164397
|
0.00119
|
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)
|
rs143876748
|
0.00118
|
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)
|
rs62641715
|
0.00117
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg)
|
rs201818235
|
0.00117
|
NM_001382.4(DPAGT1):c.1161+16G>A
|
rs201301096
|
0.00116
|
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)
|
rs55826142
|
0.00116
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00113
|
NM_198576.4(AGRN):c.3765G>A (p.Ala1255=)
|
rs149490453
|
0.00113
|
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys)
|
rs147259096
|
0.00113
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
NM_002334.4(LRP4):c.430+15C>T
|
rs199835230
|
0.00108
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_173660.5(DOK7):c.332-43_332-18del
|
rs781466203
|
0.00108
|
NM_198576.4(AGRN):c.1178-7G>A
|
rs200932219
|
0.00106
|
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)
|
rs192173278
|
0.00105
|
NM_198576.4(AGRN):c.5370+11G>A
|
rs373058941
|
0.00104
|
NM_198576.4(AGRN):c.1188G>A (p.Pro396=)
|
rs138841641
|
0.00103
|
NM_000747.3(CHRNB1):c.84T>C (p.Gly28=)
|
rs138041351
|
0.00102
|
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)
|
rs147760280
|
0.00102
|
NM_198576.4(AGRN):c.2508C>T (p.Ile836=)
|
rs148864199
|
0.00102
|
NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu)
|
rs200232485
|
0.00099
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
|
rs200434321
|
0.00098
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
NM_173660.5(DOK7):c.816C>G (p.His272Gln)
|
rs115614731
|
0.00098
|
NM_001171613.2(PREPL):c.1479+8C>T
|
rs202009058
|
0.00097
|
NM_000080.4(CHRNE):c.555C>T (p.Asp185=)
|
rs137952354
|
0.00096
|
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile)
|
rs138945146
|
0.00096
|
NM_198576.4(AGRN):c.5C>A (p.Ala2Asp)
|
rs776698665
|
0.00096
|
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln)
|
rs146243145
|
0.00094
|
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile)
|
rs190072721
|
0.00093
|
NM_002334.4(LRP4):c.4951+10A>G
|
rs371455422
|
0.00093
|
NM_005677.4(COLQ):c.922G>A (p.Val308Met)
|
rs184245561
|
0.00093
|
NM_198576.4(AGRN):c.2013C>T (p.Ser671=)
|
rs141603403
|
0.00093
|
NM_198576.4(AGRN):c.2681-4C>T
|
rs186518388
|
0.00092
|
NM_144988.4(ALG14):c.40G>A (p.Val14Met)
|
rs11165298
|
0.00091
|
NM_000747.3(CHRNB1):c.611-9C>T
|
rs538827412
|
0.00089
|
NM_001171613.2(PREPL):c.-49+1740C>A
|
rs145322905
|
0.00089
|
NM_005592.4(MUSK):c.358+20G>A
|
rs144807641
|
0.00089
|
NM_001244710.2(GFPT1):c.7+20G>T
|
rs373299682
|
0.00088
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
NM_198576.4(AGRN):c.5877-17C>A
|
rs199552967
|
0.00083
|
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)
|
rs61731735
|
0.00082
|
NM_005677.4(COLQ):c.72G>A (p.Pro24=)
|
rs111339593
|
0.00080
|
NM_002334.4(LRP4):c.4951+13G>C
|
rs367744491
|
0.00079
|
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr)
|
rs140764403
|
0.00079
|
NM_198576.4(AGRN):c.624T>C (p.Pro208=)
|
rs371764695
|
0.00079
|
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)
|
rs141757569
|
0.00077
|
NM_002334.4(LRP4):c.141C>G (p.Ala47=)
|
rs543418199
|
0.00076
|
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)
|
rs145460760
|
0.00076
|
NM_002334.4(LRP4):c.387C>T (p.Cys129=)
|
rs80333596
|
0.00076
|
NM_198576.4(AGRN):c.5564-11C>T
|
rs191736727
|
0.00076
|
NM_002334.4(LRP4):c.5520T>C (p.His1840=)
|
rs144350829
|
0.00075
|
NM_198576.4(AGRN):c.5643G>A (p.Val1881=)
|
rs142242736
|
0.00074
|
NM_001382.4(DPAGT1):c.918-4G>A
|
rs201656540
|
0.00073
|
NM_005592.4(MUSK):c.1779-7C>T
|
rs114362384
|
0.00072
|
NM_001171613.2(PREPL):c.917T>C (p.Met306Thr)
|
rs150182073
|
0.00071
|
NM_001171613.2(PREPL):c.68A>G (p.Asn23Ser)
|
rs138377728
|
0.00070
|
NM_001244710.2(GFPT1):c.224-12C>T
|
rs375455794
|
0.00070
|
NM_198576.4(AGRN):c.3819C>T (p.Ala1273=)
|
rs142597617
|
0.00070
|
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)
|
rs144158112
|
0.00068
|
NM_001382.4(DPAGT1):c.643+11T>A
|
rs185858377
|
0.00067
|
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)
|
rs139398367
|
0.00067
|
NM_198576.4(AGRN):c.2682C>T (p.Asp894=)
|
rs118105080
|
0.00067
|
NM_198576.4(AGRN):c.4298+7G>A
|
rs201995572
|
0.00066
|
NM_198576.4(AGRN):c.4323G>A (p.Ala1441=)
|
rs373287346
|
0.00066
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)
|
rs373118888
|
0.00064
|
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)
|
rs147688807
|
0.00063
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)
|
rs376509451
|
0.00063
|
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His)
|
rs144169073
|
0.00061
|
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)
|
rs199994118
|
0.00061
|
NM_002334.4(LRP4):c.570C>T (p.Pro190=)
|
rs147353838
|
0.00061
|
NM_144988.4(ALG14):c.182A>G (p.Asn61Ser)
|
rs138996965
|
0.00061
|
NM_198576.4(AGRN):c.4272G>A (p.Ala1424=)
|
rs201470321
|
0.00061
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
NM_020549.5(CHAT):c.327G>A (p.Thr109=)
|
rs79914771
|
0.00060
|
NM_002334.4(LRP4):c.677-14T>C
|
rs373597511
|
0.00059
|
NM_144988.4(ALG14):c.552C>T (p.Ser184=)
|
rs148202016
|
0.00059
|
NM_173660.5(DOK7):c.1020C>T (p.Ile340=)
|
rs370838856
|
0.00059
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
NM_198576.4(AGRN):c.2987C>A (p.Ala996Glu)
|
rs148475305
|
0.00057
|
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser)
|
rs148533702
|
0.00056
|
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr)
|
rs115877658
|
0.00056
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln)
|
rs200339732
|
0.00053
|
NM_002334.4(LRP4):c.2506+17C>T
|
rs376349760
|
0.00052
|
NM_002334.4(LRP4):c.676+13G>A
|
rs200963011
|
0.00052
|
NM_005677.4(COLQ):c.1277C>A (p.Thr426Lys)
|
rs536042715
|
0.00052
|
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val)
|
rs143785426
|
0.00051
|
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu)
|
rs768517440
|
0.00051
|
NM_198576.4(AGRN):c.2537-14G>A
|
rs201785619
|
0.00050
|
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln)
|
rs138920330
|
0.00049
|
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)
|
rs138348037
|
0.00049
|
NM_001171613.2(PREPL):c.444T>C (p.Asp148=)
|
rs149836496
|
0.00049
|
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn)
|
rs142981913
|
0.00049
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
NM_198576.4(AGRN):c.4734C>T (p.Pro1578=)
|
rs186574226
|
0.00049
|
NM_033087.4(ALG2):c.216G>T (p.Gly72=)
|
rs531748488
|
0.00048
|
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met)
|
rs140556296
|
0.00047
|
NM_000080.4(CHRNE):c.901G>A (p.Val301Met)
|
rs140023380
|
0.00046
|
NM_001171613.2(PREPL):c.75+17C>G
|
rs375409764
|
0.00046
|
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)
|
rs146237774
|
0.00046
|
NM_021815.5(SLC5A7):c.1113+9A>G
|
rs192964655
|
0.00046
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
NM_198576.4(AGRN):c.726C>T (p.Cys242=)
|
rs369344193
|
0.00046
|
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)
|
rs148865136
|
0.00045
|
NM_005055.5(RAPSN):c.1166+16G>A
|
rs377580268
|
0.00045
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_144988.4(ALG14):c.171G>A (p.Gly57=)
|
rs141065009
|
0.00045
|
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)
|
rs150497723
|
0.00045
|
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)
|
rs375762569
|
0.00044
|
NM_198576.4(AGRN):c.4633G>A (p.Val1545Met)
|
rs369276144
|
0.00044
|
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=)
|
rs202051373
|
0.00043
|
NM_000747.3(CHRNB1):c.132A>G (p.Pro44=)
|
rs35872101
|
0.00043
|
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)
|
rs201791900
|
0.00043
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr)
|
rs146931108
|
0.00042
|
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln)
|
rs61736853
|
0.00042
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
NM_000747.3(CHRNB1):c.1359C>T (p.His453=)
|
rs142053338
|
0.00041
|
NM_001382.4(DPAGT1):c.729-4A>C
|
rs199873583
|
0.00041
|
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)
|
rs199747378
|
0.00041
|
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)
|
rs139535571
|
0.00041
|
NM_005677.4(COLQ):c.1074+4C>T
|
rs201227079
|
0.00041
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_130811.4(SNAP25):c.6C>T (p.Ala2=)
|
rs11547858
|
0.00040
|
NM_001171613.2(PREPL):c.1542A>C (p.Glu514Asp)
|
rs138237715
|
0.00039
|
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)
|
rs141213903
|
0.00038
|
NM_005592.4(MUSK):c.1928-4C>A
|
rs375406874
|
0.00038
|
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser)
|
rs777215134
|
0.00038
|
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
|
rs139133047
|
0.00038
|
NM_198576.4(AGRN):c.1996C>G (p.Gln666Glu)
|
rs138977015
|
0.00038
|
NM_198576.4(AGRN):c.2309C>T (p.Pro770Leu)
|
rs113017128
|
0.00038
|
NM_198576.4(AGRN):c.5550G>A (p.Pro1850=)
|
rs74045090
|
0.00038
|
NM_198576.4(AGRN):c.5735C>T (p.Ala1912Val)
|
rs141178720
|
0.00038
|
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)
|
rs114545628
|
0.00037
|
NM_173660.5(DOK7):c.332-5C>T
|
rs375468951
|
0.00037
|
NM_002334.4(LRP4):c.1832G>A (p.Arg611His)
|
rs140282454
|
0.00036
|
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)
|
rs75262191
|
0.00036
|
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys)
|
rs199606134
|
0.00036
|
NM_173660.5(DOK7):c.972G>A (p.Pro324=)
|
rs373041663
|
0.00036
|
NM_005592.4(MUSK):c.2082C>A (p.Pro694=)
|
rs201616041
|
0.00035
|
NM_198576.4(AGRN):c.2028T>A (p.Ser676=)
|
rs144713799
|
0.00035
|
NM_198576.4(AGRN):c.2536C>T (p.Pro846Ser)
|
rs138248828
|
0.00035
|
NM_198576.4(AGRN):c.5337C>T (p.Ala1779=)
|
rs141463750
|
0.00035
|
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)
|
rs138519099
|
0.00034
|
NM_005592.4(MUSK):c.300G>A (p.Thr100=)
|
rs180928221
|
0.00034
|
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu)
|
rs142980906
|
0.00034
|
NM_005677.4(COLQ):c.561C>T (p.Ser187=)
|
rs149370622
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_198576.4(AGRN):c.2270C>T (p.Pro757Leu)
|
rs202172924
|
0.00034
|
NM_198576.4(AGRN):c.3936C>T (p.Thr1312=)
|
rs775175131
|
0.00034
|
NM_198576.4(AGRN):c.5536G>C (p.Gly1846Arg)
|
rs199499080
|
0.00034
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_000080.4(CHRNE):c.46+20G>A
|
rs368007857
|
0.00032
|
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg)
|
rs150290595
|
0.00032
|
NM_001171613.2(PREPL):c.1135G>C (p.Asp379His)
|
rs140165185
|
0.00032
|
NM_001171613.2(PREPL):c.516C>T (p.Asp172=)
|
rs138620283
|
0.00032
|
NM_001171613.2(PREPL):c.594C>T (p.Asp198=)
|
rs373041097
|
0.00032
|
NM_005592.4(MUSK):c.2573G>A (p.Arg858His)
|
rs34115159
|
0.00032
|
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)
|
rs200750233
|
0.00032
|
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys)
|
rs115883468
|
0.00032
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
NM_198576.4(AGRN):c.2277G>A (p.Pro759=)
|
rs199985558
|
0.00032
|
NM_198576.4(AGRN):c.698G>T (p.Arg233Leu)
|
rs532795042
|
0.00032
|
NM_000080.4(CHRNE):c.66C>T (p.Asn22=)
|
rs55770091
|
0.00031
|
NM_001171613.2(PREPL):c.562G>A (p.Val188Met)
|
rs150341120
|
0.00031
|
NM_002334.4(LRP4):c.3004+19G>T
|
rs376749778
|
0.00031
|
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)
|
rs144169411
|
0.00031
|
NM_173660.5(DOK7):c.975G>A (p.Arg325=)
|
rs370661591
|
0.00031
|
NM_198576.4(AGRN):c.2796C>T (p.Asn932=)
|
rs147153797
|
0.00031
|
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser)
|
rs375221757
|
0.00030
|
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)
|
rs201322234
|
0.00030
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
NM_173660.5(DOK7):c.567G>A (p.Gly189=)
|
rs141808910
|
0.00030
|
NM_198576.4(AGRN):c.3276C>T (p.Ser1092=)
|
rs201166586
|
0.00030
|
NM_001171613.2(PREPL):c.-49+1746T>G
|
rs146729699
|
0.00029
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)
|
rs199811263
|
0.00029
|
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)
|
rs376635652
|
0.00029
|
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr)
|
rs202045225
|
0.00029
|
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys)
|
rs777626370
|
0.00029
|
NM_198576.4(AGRN):c.172G>A (p.Asp58Asn)
|
rs750933418
|
0.00029
|
NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys)
|
rs142252759
|
0.00029
|
NM_198576.4(AGRN):c.3517-6C>T
|
rs369941113
|
0.00029
|
NM_198576.4(AGRN):c.4881C>T (p.Ala1627=)
|
rs144586153
|
0.00029
|
NM_001171613.2(PREPL):c.-49+1881A>G
|
rs199938599
|
0.00028
|
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=)
|
rs146463758
|
0.00028
|
NM_005055.5(RAPSN):c.816C>T (p.Ala272=)
|
rs779303374
|
0.00028
|
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)
|
rs56040810
|
0.00028
|
NM_198576.4(AGRN):c.1209C>T (p.Ala403=)
|
rs368625531
|
0.00028
|
NM_001171613.2(PREPL):c.-49+1883G>T
|
rs199854790
|
0.00027
|
NM_020549.5(CHAT):c.1716G>A (p.Ser572=)
|
rs374000183
|
0.00027
|
NM_020549.5(CHAT):c.1894C>T (p.Arg632Trp)
|
rs141127966
|
0.00027
|
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr)
|
rs539190403
|
0.00027
|
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)
|
rs144269117
|
0.00027
|
NM_198576.4(AGRN):c.2337C>T (p.Thr779=)
|
rs141886688
|
0.00027
|
NM_198576.4(AGRN):c.2563G>A (p.Val855Met)
|
rs200684031
|
0.00027
|
NM_198576.4(AGRN):c.4976+4G>A
|
rs565518558
|
0.00027
|
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala)
|
rs199807050
|
0.00026
|
NM_001244710.2(GFPT1):c.408+19A>G
|
rs201470680
|
0.00026
|
NM_005677.4(COLQ):c.300C>T (p.Ser100=)
|
rs2305611
|
0.00026
|
NM_020549.5(CHAT):c.2178G>A (p.Pro726=)
|
rs77144546
|
0.00026
|
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala)
|
rs75427357
|
0.00026
|
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)
|
rs370039804
|
0.00026
|
NM_173660.5(DOK7):c.32T>C (p.Val11Ala)
|
rs375168516
|
0.00026
|
NM_198576.4(AGRN):c.1540G>A (p.Glu514Lys)
|
rs143976046
|
0.00026
|
NM_198576.4(AGRN):c.3720G>A (p.Pro1240=)
|
rs550897417
|
0.00026
|
NM_000080.4(CHRNE):c.46+5G>A
|
rs375802288
|
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_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_130811.4(SNAP25):c.534C>T (p.Ile178=)
|
rs200030321
|
0.00025
|
NM_198576.4(AGRN):c.2601G>A (p.Ser867=)
|
rs144794590
|
0.00025
|
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met)
|
rs149433073
|
0.00024
|
NM_000747.3(CHRNB1):c.593A>G (p.His198Arg)
|
rs76251791
|
0.00024
|
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)
|
rs144710408
|
0.00024
|
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)
|
rs139006210
|
0.00024
|
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)
|
rs766051613
|
0.00024
|
NM_020549.5(CHAT):c.858C>T (p.Thr286=)
|
rs200423662
|
0.00024
|
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=)
|
rs144772225
|
0.00024
|
NM_173660.5(DOK7):c.54+23_54+24insA
|
rs759348603
|
0.00024
|
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)
|
rs146895834
|
0.00024
|
NM_198576.4(AGRN):c.3256G>A (p.Glu1086Lys)
|
rs141217865
|
0.00024
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala)
|
rs146687198
|
0.00023
|
NM_020549.5(CHAT):c.1955G>A (p.Arg652Gln)
|
rs116628504
|
0.00023
|
NM_020549.5(CHAT):c.754C>T (p.His252Tyr)
|
rs376994468
|
0.00023
|
NM_021815.5(SLC5A7):c.293-18C>G
|
rs200631097
|
0.00023
|
NM_198576.4(AGRN):c.1187C>T (p.Pro396Leu)
|
rs374230348
|
0.00023
|
NM_198576.4(AGRN):c.2002G>A (p.Glu668Lys)
|
rs199801106
|
0.00023
|
NM_001171613.2(PREPL):c.750A>G (p.Leu250=)
|
rs146874807
|
0.00022
|
NM_002334.4(LRP4):c.378G>A (p.Leu126=)
|
rs201749120
|
0.00022
|
NM_005592.4(MUSK):c.1743C>A (p.Ile581=)
|
rs756096336
|
0.00022
|
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
|
rs369254308
|
0.00022
|
NM_020549.5(CHAT):c.1511+5G>A
|
rs371888779
|
0.00022
|
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)
|
rs140382423
|
0.00022
|
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)
|
rs377555406
|
0.00022
|
NM_173660.5(DOK7):c.282C>T (p.His94=)
|
rs377025553
|
0.00022
|
NM_173660.5(DOK7):c.846C>T (p.Thr282=)
|
rs141147662
|
0.00022
|
NM_198576.4(AGRN):c.2950G>A (p.Val984Met)
|
rs371483148
|
0.00022
|
NM_001171613.2(PREPL):c.1629+12C>T
|
rs371909871
|
0.00021
|
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=)
|
rs189954086
|
0.00021
|
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=)
|
rs369055649
|
0.00021
|
NM_001244710.2(GFPT1):c.223+5C>T
|
rs200631666
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)
|
rs150734530
|
0.00021
|
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser)
|
rs116828761
|
0.00021
|
NM_005677.4(COLQ):c.1161C>T (p.Asp387=)
|
rs539100854
|
0.00021
|
NM_005677.4(COLQ):c.438C>T (p.Ile146=)
|
rs757867510
|
0.00021
|
NM_020549.5(CHAT):c.1173C>T (p.Asp391=)
|
rs141690626
|
0.00021
|
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)
|
rs141141719
|
0.00021
|
NM_198576.4(AGRN):c.4967G>A (p.Arg1656Gln)
|
rs374905300
|
0.00021
|
NM_198576.4(AGRN):c.5775C>T (p.Asp1925=)
|
rs375797607
|
0.00021
|
NM_000747.3(CHRNB1):c.753C>T (p.Asn251=)
|
rs142067673
|
0.00020
|
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)
|
rs146501212
|
0.00020
|
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)
|
rs145422541
|
0.00020
|
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys)
|
rs1280034815
|
0.00020
|
NM_198576.4(AGRN):c.2271G>A (p.Pro757=)
|
rs150123719
|
0.00020
|
NM_198576.4(AGRN):c.3803G>A (p.Gly1268Glu)
|
rs755427684
|
0.00020
|
NM_198576.4(AGRN):c.523A>G (p.Met175Val)
|
rs575663792
|
0.00020
|
NM_198576.4(AGRN):c.5814C>T (p.Pro1938=)
|
rs369308183
|
0.00020
|
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro)
|
rs568952207
|
0.00019
|
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser)
|
rs764960076
|
0.00019
|
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=)
|
rs77592498
|
0.00019
|
NM_001171613.2(PREPL):c.1629+14A>G
|
rs748376274
|
0.00019
|
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
|
rs150532554
|
0.00019
|
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)
|
rs201957426
|
0.00019
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
NM_020549.5(CHAT):c.1511+16G>A
|
rs772971552
|
0.00019
|
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)
|
rs371772900
|
0.00019
|
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)
|
rs377757018
|
0.00019
|
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)
|
rs201304841
|
0.00019
|
NM_173660.5(DOK7):c.1320C>T (p.Ala440=)
|
rs368868378
|
0.00019
|
NM_198576.4(AGRN):c.1238G>A (p.Arg413His)
|
rs201280723
|
0.00019
|
NM_198576.4(AGRN):c.1815C>T (p.Ala605=)
|
rs192391187
|
0.00019
|
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp)
|
rs142143178
|
0.00019
|
NM_198576.4(AGRN):c.2610C>T (p.Pro870=)
|
rs371615464
|
0.00019
|
NM_198576.4(AGRN):c.3801G>A (p.Ala1267=)
|
rs148483856
|
0.00019
|
NM_198576.4(AGRN):c.4298+9G>A
|
rs774692884
|
0.00019
|
NM_198576.4(AGRN):c.519G>C (p.Arg173=)
|
rs756710837
|
0.00019
|
NM_198576.4(AGRN):c.840C>G (p.Pro280=)
|
rs956784907
|
0.00019
|
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=)
|
rs147607553
|
0.00018
|
NM_001171613.2(PREPL):c.1086+8T>G
|
rs374029150
|
0.00018
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)
|
rs140010759
|
0.00018
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_173660.5(DOK7):c.54+31G>T
|
rs762404326
|
0.00018
|
NM_198576.4(AGRN):c.1107C>T (p.Val369=)
|
rs369413947
|
0.00018
|
NM_198576.4(AGRN):c.2681-16C>G
|
rs199785742
|
0.00018
|
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=)
|
rs768977197
|
0.00017
|
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His)
|
rs79220301
|
0.00017
|
NM_002334.4(LRP4):c.1310-9G>C
|
rs200509094
|
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_173660.5(DOK7):c.1090C>T (p.Arg364Trp)
|
rs577156980
|
0.00017
|
NM_198576.4(AGRN):c.3732C>T (p.His1244=)
|
rs536657086
|
0.00017
|
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn)
|
rs766470739
|
0.00017
|
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=)
|
rs372862723
|
0.00016
|
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val)
|
rs201463598
|
0.00016
|
NM_001171613.2(PREPL):c.1480-6T>C
|
rs756590077
|
0.00016
|
NM_002334.4(LRP4):c.695G>A (p.Arg232His)
|
rs370407081
|
0.00016
|
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
|
rs149683345
|
0.00016
|
NM_005677.4(COLQ):c.321+17G>A
|
rs769285800
|
0.00016
|
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu)
|
rs146619514
|
0.00016
|
NM_020549.5(CHAT):c.1511+13G>A
|
rs561823003
|
0.00016
|
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu)
|
rs142285373
|
0.00016
|
NM_021815.5(SLC5A7):c.486C>T (p.His162=)
|
rs369362436
|
0.00016
|
NM_144988.4(ALG14):c.98C>T (p.Pro33Leu)
|
rs200080963
|
0.00016
|
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)
|
rs200675356
|
0.00016
|
NM_173660.5(DOK7):c.765C>A (p.Gly255=)
|
rs138215484
|
0.00016
|
NM_173660.5(DOK7):c.772+14C>G
|
rs201023802
|
0.00016
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
NM_198576.4(AGRN):c.1342C>T (p.Arg448Trp)
|
rs146770768
|
0.00016
|
NM_198576.4(AGRN):c.1460C>T (p.Ala487Val)
|
rs139302553
|
0.00016
|
NM_198576.4(AGRN):c.1461G>A (p.Ala487=)
|
rs369442516
|
0.00016
|
NM_198576.4(AGRN):c.1890C>T (p.Pro630=)
|
rs779308593
|
0.00016
|
NM_198576.4(AGRN):c.2666C>T (p.Ala889Val)
|
rs532395667
|
0.00016
|
NM_198576.4(AGRN):c.3132G>A (p.Thr1044=)
|
rs747633469
|
0.00016
|
NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val)
|
rs137965991
|
0.00016
|
NM_198576.4(AGRN):c.3773C>T (p.Thr1258Met)
|
rs141842070
|
0.00016
|
NM_198576.4(AGRN):c.384C>G (p.His128Gln)
|
rs768527925
|
0.00016
|
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg)
|
rs780180385
|
0.00016
|
NM_198576.4(AGRN):c.5052G>A (p.Thr1684=)
|
rs150178666
|
0.00016
|
NM_198576.4(AGRN):c.511+18C>T
|
rs372583504
|
0.00016
|
NM_198576.4(AGRN):c.5817G>A (p.Val1939=)
|
rs371378860
|
0.00016
|
NM_000747.3(CHRNB1):c.903C>T (p.Thr301=)
|
rs117168441
|
0.00015
|
NM_001171613.2(PREPL):c.453T>C (p.Arg151=)
|
rs368239846
|
0.00015
|
NM_001171613.2(PREPL):c.485+13T>C
|
rs13395913
|
0.00015
|
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)
|
rs142871135
|
0.00015
|
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)
|
rs137882536
|
0.00015
|
NM_002334.4(LRP4):c.636C>T (p.Gly212=)
|
rs17848239
|
0.00015
|
NM_005592.4(MUSK):c.2484C>T (p.Pro828=)
|
rs779401827
|
0.00015
|
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys)
|
rs138818971
|
0.00015
|
NM_020549.5(CHAT):c.1111+7C>T
|
rs767946637
|
0.00015
|
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln)
|
rs200335347
|
0.00015
|
NM_144988.4(ALG14):c.354C>T (p.Thr118=)
|
rs372809921
|
0.00015
|
NM_198576.4(AGRN):c.125A>C (p.Glu42Ala)
|
rs757604648
|
0.00015
|
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn)
|
rs148315419
|
0.00015
|
NM_198576.4(AGRN):c.4605G>T (p.Gly1535=)
|
rs373097825
|
0.00015
|
NM_198576.4(AGRN):c.5247G>A (p.Glu1749=)
|
rs367587156
|
0.00015
|
NM_198576.4(AGRN):c.5501C>T (p.Pro1834Leu)
|
rs145116277
|
0.00015
|
NM_198576.4(AGRN):c.643T>G (p.Ser215Ala)
|
rs764152471
|
0.00015
|
NM_000080.4(CHRNE):c.1327-3C>T
|
rs749489742
|
0.00014
|
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro)
|
rs142735836
|
0.00014
|
NM_000747.3(CHRNB1):c.1217+9A>G
|
rs145242880
|
0.00014
|
NM_000747.3(CHRNB1):c.1218-7C>T
|
rs779852242
|
0.00014
|
NM_001171613.2(PREPL):c.1221C>T (p.Val407=)
|
rs749676469
|
0.00014
|
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)
|
rs150477781
|
0.00014
|
NM_001244710.2(GFPT1):c.1725+14G>A
|
rs201672242
|
0.00014
|
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln)
|
rs555854564
|
0.00014
|
NM_001382.4(DPAGT1):c.728+9G>A
|
rs369353136
|
0.00014
|
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile)
|
rs143885233
|
0.00014
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
NM_002334.4(LRP4):c.4584-5C>T
|
rs183295145
|
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_005055.5(RAPSN):c.225G>A (p.Glu75=)
|
rs147923114
|
0.00014
|
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe)
|
rs34267283
|
0.00014
|
NM_005592.4(MUSK):c.206+10C>T
|
rs371617202
|
0.00014
|
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr)
|
rs374657556
|
0.00014
|
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly)
|
rs370071178
|
0.00014
|
NM_020549.5(CHAT):c.1038T>C (p.Arg346=)
|
rs367961073
|
0.00014
|
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)
|
rs148155075
|
0.00014
|
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile)
|
rs773393717
|
0.00014
|
NM_033087.4(ALG2):c.217G>C (p.Asp73His)
|
rs375634924
|
0.00014
|
NM_130811.4(SNAP25):c.281+16C>T
|
rs375764492
|
0.00014
|
NM_173660.5(DOK7):c.1233T>C (p.Leu411=)
|
rs539706052
|
0.00014
|
NM_198576.4(AGRN):c.1395G>A (p.Pro465=)
|
rs367601178
|
0.00014
|
NM_198576.4(AGRN):c.1470C>T (p.Cys490=)
|
rs372048253
|
0.00014
|
NM_198576.4(AGRN):c.2681-10C>T
|
rs368080332
|
0.00014
|
NM_198576.4(AGRN):c.2737G>A (p.Val913Met)
|
rs140120617
|
0.00014
|
NM_198576.4(AGRN):c.2997C>A (p.Ala999=)
|
rs141061406
|
0.00014
|
NM_198576.4(AGRN):c.3003C>T (p.Pro1001=)
|
rs375208869
|
0.00014
|
NM_198576.4(AGRN):c.3166G>A (p.Ala1056Thr)
|
rs201651738
|
0.00014
|
NM_198576.4(AGRN):c.3950G>A (p.Arg1317His)
|
rs376518159
|
0.00014
|
NM_198576.4(AGRN):c.4055G>A (p.Gly1352Asp)
|
rs200612540
|
0.00014
|
NM_198576.4(AGRN):c.4513G>A (p.Val1505Met)
|
rs372918766
|
0.00014
|
NM_198576.4(AGRN):c.5308G>A (p.Asp1770Asn)
|
rs141464249
|
0.00014
|
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)
|
rs757968612
|
0.00013
|
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala)
|
rs759668768
|
0.00013
|
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro)
|
rs201915086
|
0.00013
|
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=)
|
rs147585967
|
0.00013
|
NM_001171613.2(PREPL):c.249C>G (p.Ala83=)
|
rs773977540
|
0.00013
|
NM_001171613.2(PREPL):c.702+17G>A
|
rs375710277
|
0.00013
|
NM_001244710.2(GFPT1):c.1483-11T>G
|
rs147573852
|
0.00013
|
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)
|
rs149435615
|
0.00013
|
NM_005592.4(MUSK):c.1806T>G (p.Pro602=)
|
rs374078491
|
0.00013
|
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His)
|
rs756508281
|
0.00013
|
NM_020549.5(CHAT):c.1123C>T (p.Arg375Trp)
|
rs141794970
|
0.00013
|
NM_020549.5(CHAT):c.740C>T (p.Ala247Val)
|
rs561562136
|
0.00013
|
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met)
|
rs373864257
|
0.00013
|
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser)
|
rs148650015
|
0.00013
|
NM_173660.5(DOK7):c.752C>T (p.Ala251Val)
|
rs376251309
|
0.00013
|
NM_198576.4(AGRN):c.1020T>C (p.Pro340=)
|
rs779277410
|
0.00013
|
NM_198576.4(AGRN):c.1384+6C>T
|
rs763495287
|
0.00013
|
NM_198576.4(AGRN):c.1929C>T (p.Cys643=)
|
rs371304780
|
0.00013
|
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp)
|
rs147673996
|
0.00013
|
NM_198576.4(AGRN):c.4073C>T (p.Pro1358Leu)
|
rs755205199
|
0.00013
|
NM_198576.4(AGRN):c.4518G>A (p.Ala1506=)
|
rs376592885
|
0.00013
|
NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val)
|
rs374160610
|
0.00013
|
NM_000747.3(CHRNB1):c.6C>T (p.Thr2=)
|
rs755368307
|
0.00012
|
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=)
|
rs149866553
|
0.00012
|
NM_001171613.2(PREPL):c.1726G>A (p.Ala576Thr)
|
rs145230776
|
0.00012
|
NM_001171613.2(PREPL):c.1727C>T (p.Ala576Val)
|
rs202130215
|
0.00012
|
NM_001171613.2(PREPL):c.349+13C>T
|
rs756110874
|
0.00012
|
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val)
|
rs948398303
|
0.00012
|
NM_001382.4(DPAGT1):c.496+3A>G
|
rs565154071
|
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_020549.5(CHAT):c.867G>A (p.Thr289=)
|
rs574542737
|
0.00012
|
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)
|
rs769114543
|
0.00012
|
NM_144988.4(ALG14):c.532G>A (p.Val178Ile)
|
rs373069354
|
0.00012
|
NM_198576.4(AGRN):c.1513G>A (p.Asp505Asn)
|
rs147081710
|
0.00012
|
NM_198576.4(AGRN):c.1557C>T (p.Ala519=)
|
rs146185843
|
0.00012
|
NM_198576.4(AGRN):c.2100C>T (p.Asp700=)
|
rs147021253
|
0.00012
|
NM_198576.4(AGRN):c.5738C>T (p.Thr1913Met)
|
rs201604787
|
0.00012
|
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val)
|
rs755802710
|
0.00011
|
NM_000080.4(CHRNE):c.699G>A (p.Ser233=)
|
rs375146171
|
0.00011
|
NM_000747.3(CHRNB1):c.1224G>A (p.Gln408=)
|
rs143027754
|
0.00011
|
NM_001171613.2(PREPL):c.-49+1808A>T
|
rs145087654
|
0.00011
|
NM_001171613.2(PREPL):c.1164T>C (p.His388=)
|
rs375606179
|
0.00011
|
NM_001171613.2(PREPL):c.393C>T (p.Thr131=)
|
rs200491145
|
0.00011
|
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser)
|
rs371862757
|
0.00011
|
NM_002334.4(LRP4):c.2763C>T (p.Asp921=)
|
rs532977473
|
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.5178C>T (p.Tyr1726=)
|
rs372105627
|
0.00011
|
NM_002334.4(LRP4):c.788G>A (p.Arg263His)
|
rs149906323
|
0.00011
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
NM_005592.4(MUSK):c.198T>C (p.Ile66=)
|
rs567402281
|
0.00011
|
NM_005677.4(COLQ):c.107-9263G>C
|
rs905126365
|
0.00011
|
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp)
|
rs116503231
|
0.00011
|
NM_005677.4(COLQ):c.621A>C (p.Gly207=)
|
rs138830715
|
0.00011
|
NM_005677.4(COLQ):c.812C>T (p.Ala271Val)
|
rs373735085
|
0.00011
|
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln)
|
rs201616704
|
0.00011
|
NM_020549.5(CHAT):c.1419C>T (p.Ser473=)
|
rs200175587
|
0.00011
|
NM_020549.5(CHAT):c.1977+4C>T
|
rs200116201
|
0.00011
|
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
|
rs201479289
|
0.00011
|
NM_020549.5(CHAT):c.866C>T (p.Thr289Met)
|
rs139352363
|
0.00011
|
NM_021815.5(SLC5A7):c.178+18C>T
|
rs372695865
|
0.00011
|
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=)
|
rs139476914
|
0.00011
|
NM_021815.5(SLC5A7):c.742-6G>A
|
rs371989232
|
0.00011
|
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=)
|
rs190152555
|
0.00011
|
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)
|
rs147185207
|
0.00011
|
NM_173660.5(DOK7):c.1434C>T (p.Gly478=)
|
rs781007084
|
0.00011
|
NM_173660.5(DOK7):c.189C>T (p.Cys63=)
|
rs372989037
|
0.00011
|
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)
|
rs576215366
|
0.00011
|
NM_173660.5(DOK7):c.931A>G (p.Met311Val)
|
rs752949999
|
0.00011
|
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu)
|
rs546889092
|
0.00011
|
NM_198576.4(AGRN):c.149C>T (p.Thr50Met)
|
rs767809484
|
0.00011
|
NM_198576.4(AGRN):c.2400T>C (p.Ser800=)
|
rs529944515
|
0.00011
|
NM_198576.4(AGRN):c.2537-15C>T
|
rs143289619
|
0.00011
|
NM_198576.4(AGRN):c.2680+16C>T
|
rs968487793
|
0.00011
|
NM_198576.4(AGRN):c.3161C>T (p.Ala1054Val)
|
rs377535426
|
0.00011
|
NM_198576.4(AGRN):c.3327G>A (p.Ala1109=)
|
rs370487662
|
0.00011
|
NM_198576.4(AGRN):c.3517-7del
|
rs771963324
|
0.00011
|
NM_198576.4(AGRN):c.3642C>T (p.Phe1214=)
|
rs757015120
|
0.00011
|
NM_198576.4(AGRN):c.3654C>T (p.Asp1218=)
|
rs746158196
|
0.00011
|
NM_198576.4(AGRN):c.4455C>T (p.Asp1485=)
|
rs200690566
|
0.00011
|
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val)
|
rs373657385
|
0.00011
|
NM_198576.4(AGRN):c.4767G>A (p.Lys1589=)
|
rs376247667
|
0.00011
|
NM_198576.4(AGRN):c.4879+4G>A
|
rs746457706
|
0.00011
|
NM_198576.4(AGRN):c.5838C>T (p.Pro1946=)
|
rs376329821
|
0.00011
|
NM_198576.4(AGRN):c.5925C>T (p.Thr1975=)
|
rs376944871
|
0.00011
|
NM_198576.4(AGRN):c.728-19G>A
|
rs759746835
|
0.00011
|
NM_000080.4(CHRNE):c.1033-14_1033-13insT
|
rs886053124
|
0.00010
|
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu)
|
rs148370803
|
0.00010
|
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp)
|
rs141183965
|
0.00010
|
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu)
|
rs201434993
|
0.00010
|
NM_000747.3(CHRNB1):c.1217+10C>G
|
rs190598236
|
0.00010
|
NM_000747.3(CHRNB1):c.59-3C>T
|
rs372041531
|
0.00010
|
NM_001171613.2(PREPL):c.1467G>A (p.Ala489=)
|
rs140525819
|
0.00010
|
NM_001171613.2(PREPL):c.1619T>C (p.Ile540Thr)
|
rs201400293
|
0.00010
|
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg)
|
rs758234210
|
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_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)
|
rs140495790
|
0.00010
|
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)
|
rs139525851
|
0.00010
|
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)
|
rs201124957
|
0.00010
|
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)
|
rs148078235
|
0.00010
|
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)
|
rs147966227
|
0.00010
|
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met)
|
rs200064775
|
0.00010
|
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr)
|
rs776201930
|
0.00010
|
NM_020549.5(CHAT):c.119G>T (p.Gly40Val)
|
rs776411377
|
0.00010
|
NM_020549.5(CHAT):c.1275C>A (p.Ser425=)
|
rs767778694
|
0.00010
|
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met)
|
rs538478136
|
0.00010
|
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu)
|
rs977117524
|
0.00010
|
NM_020549.5(CHAT):c.435G>A (p.Thr145=)
|
rs77296560
|
0.00010
|
NM_020549.5(CHAT):c.474G>A (p.Gln158=)
|
rs143662656
|
0.00010
|
NM_020549.5(CHAT):c.580-9C>G
|
rs371756448
|
0.00010
|
NM_020549.5(CHAT):c.651C>T (p.Ala217=)
|
rs575515952
|
0.00010
|
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
|
rs1054683823
|
0.00010
|
NM_033087.4(ALG2):c.813C>T (p.Asp271=)
|
rs551873509
|
0.00010
|
NM_033087.4(ALG2):c.948G>A (p.Thr316=)
|
rs375746453
|
0.00010
|
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp)
|
rs375116985
|
0.00010
|
NM_173660.5(DOK7):c.1470G>A (p.Ser490=)
|
rs543344505
|
0.00010
|
NM_173660.5(DOK7):c.332-13C>T
|
rs778628534
|
0.00010
|
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu)
|
rs560882592
|
0.00010
|
NM_198576.4(AGRN):c.1566C>T (p.Leu522=)
|
rs375687903
|
0.00010
|
NM_198576.4(AGRN):c.183G>C (p.Gln61His)
|
rs951245406
|
0.00010
|
NM_198576.4(AGRN):c.3516+7C>T
|
rs771959135
|
0.00010
|
NM_198576.4(AGRN):c.3925C>T (p.Arg1309Trp)
|
rs564635058
|
0.00010
|
NM_198576.4(AGRN):c.4516G>A (p.Ala1506Thr)
|
rs200182409
|
0.00010
|
NM_198576.4(AGRN):c.4976+3C>T
|
rs113681205
|
0.00010
|
NM_198576.4(AGRN):c.5326C>T (p.Arg1776Cys)
|
rs146978562
|
0.00010
|
NM_000080.4(CHRNE):c.1047G>A (p.Leu349=)
|
rs974390828
|
0.00009
|
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=)
|
rs372792059
|
0.00009
|
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr)
|
rs780592951
|
0.00009
|
NM_000080.4(CHRNE):c.465C>T (p.Phe155=)
|
rs139625105
|
0.00009
|
NM_000080.4(CHRNE):c.768C>T (p.Gly256=)
|
rs372509633
|
0.00009
|
NM_000747.3(CHRNB1):c.1045-11C>G
|
rs375829198
|
0.00009
|
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr)
|
rs201776800
|
0.00009
|
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr)
|
rs1284035468
|
0.00009
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile)
|
rs751045224
|
0.00009
|
NM_001145536.2(C17orf107):c.*1565G>A
|
rs756213541
|
0.00009
|
NM_001171613.2(PREPL):c.1059C>T (p.Arg353=)
|
rs191502460
|
0.00009
|
NM_001171613.2(PREPL):c.1753+1G>T
|
rs148092524
|
0.00009
|
NM_001171613.2(PREPL):c.1868T>A (p.Leu623His)
|
rs746165384
|
0.00009
|
NM_001171613.2(PREPL):c.1887C>T (p.Phe629=)
|
rs368734097
|
0.00009
|
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=)
|
rs775046657
|
0.00009
|
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
|
rs1016844949
|
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.2092+17C>T
|
rs200761003
|
0.00009
|
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)
|
rs140757594
|
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.3073G>C (p.Gly1025Arg)
|
rs141565454
|
0.00009
|
NM_002334.4(LRP4):c.3537-13C>A
|
rs752687926
|
0.00009
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=)
|
rs376909913
|
0.00009
|
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)
|
rs146864522
|
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_005055.5(RAPSN):c.1166+13G>C
|
rs745720985
|
0.00009
|
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys)
|
rs367565995
|
0.00009
|
NM_005592.4(MUSK):c.1689C>G (p.Pro563=)
|
rs376052538
|
0.00009
|
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)
|
rs768074747
|
0.00009
|
NM_005592.4(MUSK):c.2532A>G (p.Ala844=)
|
rs193214210
|
0.00009
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg)
|
rs138891500
|
0.00009
|
NM_005677.4(COLQ):c.246C>T (p.Leu82=)
|
rs372432709
|
0.00009
|
NM_005677.4(COLQ):c.654A>G (p.Lys218=)
|
rs112673051
|
0.00009
|
NM_005677.4(COLQ):c.814+11C>T
|
rs575840341
|
0.00009
|
NM_020549.5(CHAT):c.1494G>A (p.Ser498=)
|
rs139722660
|
0.00009
|
NM_020549.5(CHAT):c.1635-3C>G
|
rs761868634
|
0.00009
|
NM_020549.5(CHAT):c.349C>T (p.Arg117Cys)
|
rs200361897
|
0.00009
|
NM_020549.5(CHAT):c.699-5T>C
|
rs1321871575
|
0.00009
|
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys)
|
rs147815999
|
0.00009
|
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=)
|
rs141187628
|
0.00009
|
NM_021815.5(SLC5A7):c.1440A>G (p.Lys480=)
|
rs3731682
|
0.00009
|
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile)
|
rs754211137
|
0.00009
|
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln)
|
rs199864231
|
0.00009
|
NM_021815.5(SLC5A7):c.474T>C (p.Asp158=)
|
rs201965363
|
0.00009
|
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=)
|
rs372145153
|
0.00009
|
NM_033087.4(ALG2):c.1038G>A (p.Ser346=)
|
rs200138333
|
0.00009
|
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)
|
rs369231996
|
0.00009
|
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)
|
rs373454393
|
0.00009
|
NM_144988.4(ALG14):c.181A>G (p.Asn61Asp)
|
rs577399329
|
0.00009
|
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys)
|
rs560463670
|
0.00009
|
NM_173660.5(DOK7):c.1290G>A (p.Ala430=)
|
rs538047872
|
0.00009
|
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp)
|
rs767909551
|
0.00009
|
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys)
|
rs750262940
|
0.00009
|
NM_173660.5(DOK7):c.480C>T (p.Tyr160=)
|
rs550024569
|
0.00009
|
NM_173660.5(DOK7):c.561C>T (p.Ala187=)
|
rs140026458
|
0.00009
|
NM_173660.5(DOK7):c.597C>T (p.Ile199=)
|
rs771302576
|
0.00009
|
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp)
|
rs139573161
|
0.00009
|
NM_173660.5(DOK7):c.932T>C (p.Met311Thr)
|
rs763124567
|
0.00009
|
NM_198576.4(AGRN):c.1305G>A (p.Thr435=)
|
rs141694897
|
0.00009
|
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln)
|
rs772102866
|
0.00009
|
NM_198576.4(AGRN):c.1449C>T (p.Asn483=)
|
rs759844691
|
0.00009
|
NM_198576.4(AGRN):c.2007C>T (p.Cys669=)
|
rs542999741
|
0.00009
|
NM_198576.4(AGRN):c.2241G>C (p.Gln747His)
|
rs144361725
|
0.00009
|
NM_198576.4(AGRN):c.2306C>T (p.Thr769Met)
|
rs148837216
|
0.00009
|
NM_198576.4(AGRN):c.245G>A (p.Arg82Gln)
|
rs368144442
|
0.00009
|
NM_198576.4(AGRN):c.2651G>A (p.Arg884His)
|
rs369686860
|
0.00009
|
NM_198576.4(AGRN):c.2667G>A (p.Ala889=)
|
rs144205055
|
0.00009
|
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe)
|
rs749588875
|
0.00009
|
NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu)
|
rs200807722
|
0.00009
|
NM_198576.4(AGRN):c.3033C>T (p.Thr1011=)
|
rs377422616
|
0.00009
|
NM_198576.4(AGRN):c.3324C>T (p.Ser1108=)
|
rs367614282
|
0.00009
|
NM_198576.4(AGRN):c.3752-5G>A
|
rs201733530
|
0.00009
|
NM_198576.4(AGRN):c.4090G>A (p.Ala1364Thr)
|
rs375639071
|
0.00009
|
NM_198576.4(AGRN):c.4178C>T (p.Thr1393Met)
|
rs766462843
|
0.00009
|
NM_198576.4(AGRN):c.4228C>T (p.Leu1410=)
|
rs544008933
|
0.00009
|
NM_198576.4(AGRN):c.4393C>T (p.Arg1465Trp)
|
rs149011678
|
0.00009
|
NM_198576.4(AGRN):c.4477C>T (p.Leu1493Phe)
|
rs138526997
|
0.00009
|
NM_198576.4(AGRN):c.4488C>T (p.Gly1496=)
|
rs748221306
|
0.00009
|
NM_198576.4(AGRN):c.657C>T (p.Asn219=)
|
rs375812789
|
0.00009
|
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser)
|
rs964034772
|
0.00008
|
NM_000080.4(CHRNE):c.6A>G (p.Ala2=)
|
rs202198207
|
0.00008
|
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala)
|
rs774407731
|
0.00008
|
NM_000747.3(CHRNB1):c.243+18G>T
|
rs369504006
|
0.00008
|
NM_000747.3(CHRNB1):c.684G>A (p.Arg228=)
|
rs765737031
|
0.00008
|
NM_000747.3(CHRNB1):c.687A>G (p.Glu229=)
|
rs749893562
|
0.00008
|
NM_001145536.2(C17orf107):c.*1566G>A
|
rs369060595
|
0.00008
|
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys)
|
rs773867044
|
0.00008
|
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)
|
rs200605467
|
0.00008
|
NM_001171613.2(PREPL):c.329T>C (p.Phe110Ser)
|
rs777176046
|
0.00008
|
NM_001244710.2(GFPT1):c.1597+5A>G
|
rs373420002
|
0.00008
|
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys)
|
rs536572222
|
0.00008
|
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)
|
rs377263230
|
0.00008
|
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile)
|
rs142660660
|
0.00008
|
NM_002334.4(LRP4):c.282C>T (p.Asn94=)
|
rs17848224
|
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_005055.5(RAPSN):c.775C>T (p.Arg259Cys)
|
rs150207592
|
0.00008
|
NM_005055.5(RAPSN):c.790-5T>C
|
rs369823690
|
0.00008
|
NM_005592.4(MUSK):c.1778+13A>G
|
rs371275445
|
0.00008
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
0.00008
|
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00008
|
NM_005677.4(COLQ):c.1117G>A (p.Gly373Ser)
|
rs202019416
|
0.00008
|
NM_005677.4(COLQ):c.367-20C>T
|
rs371561543
|
0.00008
|
NM_005677.4(COLQ):c.367-3T>C
|
rs368112392
|
0.00008
|
NM_005677.4(COLQ):c.61G>A (p.Val21Met)
|
rs142115188
|
0.00008
|
NM_020549.5(CHAT):c.1086C>T (p.Ala362=)
|
rs374870408
|
0.00008
|
NM_020549.5(CHAT):c.1338T>C (p.Asp446=)
|
rs777957584
|
0.00008
|
NM_020549.5(CHAT):c.326C>T (p.Thr109Met)
|
rs542610160
|
0.00008
|
NM_020549.5(CHAT):c.417G>C (p.Leu139=)
|
rs116390167
|
0.00008
|
NM_020549.5(CHAT):c.678T>C (p.Pro226=)
|
rs142740451
|
0.00008
|
NM_021815.5(SLC5A7):c.636C>T (p.Val212=)
|
rs200804007
|
0.00008
|
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)
|
rs143625172
|
0.00008
|
NM_130811.4(SNAP25):c.366C>T (p.Asp122=)
|
rs377498338
|
0.00008
|
NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr)
|
rs201827828
|
0.00008
|
NM_173660.5(DOK7):c.1084G>A (p.Val362Met)
|
rs760157322
|
0.00008
|
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg)
|
rs200593935
|
0.00008
|
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp)
|
rs778440478
|
0.00008
|
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly)
|
rs769974159
|
0.00008
|
NM_173660.5(DOK7):c.213C>T (p.Tyr71=)
|
rs760236131
|
0.00008
|
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys)
|
rs770653049
|
0.00008
|
NM_173660.5(DOK7):c.54+13C>T
|
rs912327595
|
0.00008
|
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys)
|
rs202077864
|
0.00008
|
NM_173660.5(DOK7):c.772+8C>T
|
rs199769286
|
0.00008
|
NM_173660.5(DOK7):c.804A>G (p.Ser268=)
|
rs781113489
|
0.00008
|
NM_198576.4(AGRN):c.102C>T (p.Arg34=)
|
rs1033464887
|
0.00008
|
NM_198576.4(AGRN):c.1281C>T (p.Pro427=)
|
rs767153644
|
0.00008
|
NM_198576.4(AGRN):c.1604-9C>T
|
rs748417950
|
0.00008
|
NM_198576.4(AGRN):c.1999+18G>A
|
rs375682905
|
0.00008
|
NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu)
|
rs565444145
|
0.00008
|
NM_198576.4(AGRN):c.2182G>A (p.Glu728Lys)
|
rs757879583
|
0.00008
|
NM_198576.4(AGRN):c.2537-4A>C
|
rs200243468
|
0.00008
|
NM_198576.4(AGRN):c.2829A>G (p.Thr943=)
|
rs774682347
|
0.00008
|
NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr)
|
rs144781935
|
0.00008
|
NM_198576.4(AGRN):c.3830C>T (p.Ser1277Leu)
|
rs747114622
|
0.00008
|
NM_198576.4(AGRN):c.4924G>A (p.Gly1642Ser)
|
rs200051701
|
0.00008
|
NM_198576.4(AGRN):c.5753A>G (p.Tyr1918Cys)
|
rs779519955
|
0.00008
|
NM_198576.4(AGRN):c.807G>A (p.Ser269=)
|
rs746098476
|
0.00008
|
NM_198576.4(AGRN):c.905C>T (p.Ala302Val)
|
rs759162806
|
0.00008
|
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=)
|
rs751593666
|
0.00007
|
NM_000080.4(CHRNE):c.1446G>A (p.Val482=)
|
rs376713095
|
0.00007
|
NM_001171613.2(PREPL):c.1827+15C>T
|
rs376714746
|
0.00007
|
NM_001171613.2(PREPL):c.508A>G (p.Thr170Ala)
|
rs560481380
|
0.00007
|
NM_001244710.2(GFPT1):c.1483-8T>C
|
rs569347921
|
0.00007
|
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr)
|
rs753866967
|
0.00007
|
NM_001244710.2(GFPT1):c.739+6A>G
|
rs542110221
|
0.00007
|
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)
|
rs542516384
|
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.5054G>A (p.Arg1685Gln)
|
rs138238230
|
0.00007
|
NM_002334.4(LRP4):c.660A>G (p.Ser220=)
|
rs200129866
|
0.00007
|
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)
|
rs201796294
|
0.00007
|
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)
|
rs558259191
|
0.00007
|
NM_005677.4(COLQ):c.159G>A (p.Leu53=)
|
rs745419074
|
0.00007
|
NM_005677.4(COLQ):c.366+9C>T
|
rs778157663
|
0.00007
|
NM_020549.5(CHAT):c.117G>C (p.Ser39=)
|
rs768179285
|
0.00007
|
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile)
|
rs757733319
|
0.00007
|
NM_020549.5(CHAT):c.207C>T (p.Pro69=)
|
rs1490764401
|
0.00007
|
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp)
|
rs376624433
|
0.00007
|
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=)
|
rs904669194
|
0.00007
|
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=)
|
rs370177227
|
0.00007
|
NM_021815.5(SLC5A7):c.597+14C>A
|
rs370808911
|
0.00007
|
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)
|
rs763662395
|
0.00007
|
NM_033087.4(ALG2):c.348+20G>C
|
rs768131229
|
0.00007
|
NM_130811.4(SNAP25):c.23G>A (p.Arg8His)
|
rs374115269
|
0.00007
|
NM_144988.4(ALG14):c.136+1G>C
|
rs150550220
|
0.00007
|
NM_144988.4(ALG14):c.36A>G (p.Gly12=)
|
rs368851775
|
0.00007
|
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu)
|
rs200015934
|
0.00007
|
NM_173660.5(DOK7):c.297G>A (p.Ala99=)
|
rs201351460
|
0.00007
|
NM_173660.5(DOK7):c.903A>C (p.Pro301=)
|
rs145040126
|
0.00007
|
NM_198576.4(AGRN):c.1743C>T (p.His581=)
|
rs201239522
|
0.00007
|
NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln)
|
rs140789461
|
0.00007
|
NM_198576.4(AGRN):c.1884C>T (p.Pro628=)
|
rs141590368
|
0.00007
|
NM_198576.4(AGRN):c.2372-12C>A
|
rs186812808
|
0.00007
|
NM_198576.4(AGRN):c.2559C>T (p.Gly853=)
|
rs369198471
|
0.00007
|
NM_198576.4(AGRN):c.3387C>T (p.Pro1129=)
|
rs758046832
|
0.00007
|
NM_198576.4(AGRN):c.3673C>T (p.Arg1225Trp)
|
rs754771889
|
0.00007
|
NM_198576.4(AGRN):c.3685G>C (p.Val1229Leu)
|
rs528146665
|
0.00007
|
NM_198576.4(AGRN):c.3795T>A (p.Ile1265=)
|
rs767379743
|
0.00007
|
NM_198576.4(AGRN):c.3810G>A (p.Thr1270=)
|
rs369304443
|
0.00007
|
NM_198576.4(AGRN):c.4050C>T (p.Gly1350=)
|
rs750911464
|
0.00007
|
NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys)
|
rs747790893
|
0.00007
|
NM_198576.4(AGRN):c.4526G>A (p.Arg1509Gln)
|
rs371477631
|
0.00007
|
NM_198576.4(AGRN):c.5107C>T (p.Arg1703Cys)
|
rs151104255
|
0.00007
|
NM_198576.4(AGRN):c.5280G>A (p.Lys1760=)
|
rs759020548
|
0.00007
|
NM_198576.4(AGRN):c.5589C>T (p.Asp1863=)
|
rs148105695
|
0.00007
|
NM_198576.4(AGRN):c.6027C>T (p.Tyr2009=)
|
rs535807619
|
0.00007
|
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=)
|
rs745744138
|
0.00006
|
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=)
|
rs767374241
|
0.00006
|
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val)
|
rs912512352
|
0.00006
|
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His)
|
rs144952259
|
0.00006
|
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys)
|
rs149083639
|
0.00006
|
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=)
|
rs750097789
|
0.00006
|
NM_000080.4(CHRNE):c.174G>A (p.Thr58=)
|
rs373275223
|
0.00006
|
NM_000080.4(CHRNE):c.406G>A (p.Val136Met)
|
rs773822199
|
0.00006
|
NM_000080.4(CHRNE):c.480G>A (p.Gln160=)
|
rs754300536
|
0.00006
|
NM_000080.4(CHRNE):c.726C>T (p.Phe242=)
|
rs150133823
|
0.00006
|
NM_000080.4(CHRNE):c.804C>T (p.Ala268=)
|
rs775149431
|
0.00006
|
NM_000080.4(CHRNE):c.948G>A (p.Thr316=)
|
rs144207552
|
0.00006
|
NM_000747.3(CHRNB1):c.300G>T (p.Ser100=)
|
rs376099204
|
0.00006
|
NM_000747.3(CHRNB1):c.59-14C>T
|
rs770468832
|
0.00006
|
NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg)
|
rs149981394
|
0.00006
|
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser)
|
rs751294067
|
0.00006
|
NM_000747.3(CHRNB1):c.723C>A (p.Ile241=)
|
rs768773947
|
0.00006
|
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His)
|
rs200409941
|
0.00006
|
NM_000747.3(CHRNB1):c.771C>T (p.Ile257=)
|
rs767109873
|
0.00006
|
NM_001171613.2(PREPL):c.1289G>C (p.Trp430Ser)
|
rs760033510
|
0.00006
|
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=)
|
rs376716463
|
0.00006
|
NM_001171613.2(PREPL):c.1510A>T (p.Met504Leu)
|
rs369887158
|
0.00006
|
NM_001171613.2(PREPL):c.1647C>T (p.His549=)
|
rs950736240
|
0.00006
|
NM_001171613.2(PREPL):c.1806A>G (p.Val602=)
|
rs771937635
|
0.00006
|
NM_001171613.2(PREPL):c.282C>G (p.Thr94=)
|
rs200854824
|
0.00006
|
NM_001171613.2(PREPL):c.350-12A>G
|
rs746840354
|
0.00006
|
NM_001171613.2(PREPL):c.364G>A (p.Glu122Lys)
|
rs147671673
|
0.00006
|
NM_001171613.2(PREPL):c.659A>C (p.Glu220Ala)
|
rs370146295
|
0.00006
|
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=)
|
rs373488949
|
0.00006
|
NM_001244710.2(GFPT1):c.1894-9C>T
|
rs765467067
|
0.00006
|
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys)
|
rs143036820
|
0.00006
|
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=)
|
rs199770054
|
0.00006
|
NM_001244710.2(GFPT1):c.845+7T>C
|
rs371199882
|
0.00006
|
NM_001382.4(DPAGT1):c.351A>G (p.Val117=)
|
rs146610900
|
0.00006
|
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
|
rs751590922
|
0.00006
|
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)
|
rs200097836
|
0.00006
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln)
|
rs773234882
|
0.00006
|
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)
|
rs148856658
|
0.00006
|
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)
|
rs574108233
|
0.00006
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)
|
rs374890595
|
0.00006
|
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)
|
rs75923112
|
0.00006
|
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=)
|
rs201016203
|
0.00006
|
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)
|
rs779526693
|
0.00006
|
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)
|
rs17848229
|
0.00006
|
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)
|
rs372569948
|
0.00006
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln)
|
rs150211735
|
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.612C>T (p.Ile204=)
|
rs757902891
|
0.00006
|
NM_002334.4(LRP4):c.676+4A>G
|
rs759630167
|
0.00006
|
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys)
|
rs557300271
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_005055.5(RAPSN):c.30C>T (p.Ile10=)
|
rs768838402
|
0.00006
|
NM_005055.5(RAPSN):c.690+10C>T
|
rs78293924
|
0.00006
|
NM_005055.5(RAPSN):c.756C>T (p.Phe252=)
|
rs758794718
|
0.00006
|
NM_005055.5(RAPSN):c.948C>T (p.Ala316=)
|
rs374676714
|
0.00006
|
NM_005592.4(MUSK):c.1863G>A (p.Ala621=)
|
rs368049319
|
0.00006
|
NM_005592.4(MUSK):c.570T>C (p.Cys190=)
|
rs746340721
|
0.00006
|
NM_005592.4(MUSK):c.913+10C>G
|
rs761707078
|
0.00006
|
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro)
|
rs201804790
|
0.00006
|
NM_005677.4(COLQ):c.1019G>A (p.Arg340His)
|
rs375225755
|
0.00006
|
NM_005677.4(COLQ):c.1205G>A (p.Arg402His)
|
rs140670616
|
0.00006
|
NM_005677.4(COLQ):c.1355G>A (p.Arg452His)
|
rs754915644
|
0.00006
|
NM_005677.4(COLQ):c.393+12G>A
|
rs372145044
|
0.00006
|
NM_005677.4(COLQ):c.707G>A (p.Arg236Gln)
|
rs200770910
|
0.00006
|
NM_005677.4(COLQ):c.785G>A (p.Arg262His)
|
rs201158622
|
0.00006
|
NM_005677.4(COLQ):c.912C>T (p.Tyr304=)
|
rs886058099
|
0.00006
|
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln)
|
rs778740405
|
0.00006
|
NM_020549.5(CHAT):c.1032C>T (p.Asp344=)
|
rs145203976
|
0.00006
|
NM_020549.5(CHAT):c.1266C>T (p.Tyr422=)
|
rs201381950
|
0.00006
|
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu)
|
rs769398642
|
0.00006
|
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe)
|
rs201293521
|
0.00006
|
NM_020549.5(CHAT):c.1671G>A (p.Ala557=)
|
rs777066390
|
0.00006
|
NM_020549.5(CHAT):c.1814G>A (p.Arg605His)
|
rs199926163
|
0.00006
|
NM_020549.5(CHAT):c.1882C>A (p.Arg628=)
|
rs116097791
|
0.00006
|
NM_020549.5(CHAT):c.580-5G>A
|
rs763339825
|
0.00006
|
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser)
|
rs149976821
|
0.00006
|
NM_020549.5(CHAT):c.968G>A (p.Arg323His)
|
rs200176236
|
0.00006
|
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=)
|
rs761926640
|
0.00006
|
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=)
|
rs181802200
|
0.00006
|
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)
|
rs752153404
|
0.00006
|
NM_033087.4(ALG2):c.255C>G (p.Gly85=)
|
rs562977386
|
0.00006
|
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
|
rs754476664
|
0.00006
|
NM_033087.4(ALG2):c.390G>A (p.Arg130=)
|
rs375986920
|
0.00006
|
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)
|
rs369670496
|
0.00006
|
NM_033087.4(ALG2):c.60C>T (p.Leu20=)
|
rs200338773
|
0.00006
|
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)
|
rs1279623882
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_033087.4(ALG2):c.981T>C (p.Phe327=)
|
rs34382969
|
0.00006
|
NM_130811.4(SNAP25):c.115-20C>G
|
rs201555996
|
0.00006
|
NM_130811.4(SNAP25):c.13G>A (p.Ala5Thr)
|
rs201770060
|
0.00006
|
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys)
|
rs780277809
|
0.00006
|
NM_144988.4(ALG14):c.422T>G (p.Val141Gly)
|
rs139005007
|
0.00006
|
NM_144988.4(ALG14):c.609A>G (p.Lys203=)
|
rs200959923
|
0.00006
|
NM_144988.4(ALG14):c.9C>T (p.Cys3=)
|
rs780164458
|
0.00006
|
NM_173660.5(DOK7):c.1014C>T (p.Ser338=)
|
rs768867580
|
0.00006
|
NM_173660.5(DOK7):c.1107G>A (p.Leu369=)
|
rs778918520
|
0.00006
|
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val)
|
rs371846002
|
0.00006
|
NM_173660.5(DOK7):c.1170C>T (p.Pro390=)
|
rs199525739
|
0.00006
|
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala)
|
rs765625554
|
0.00006
|
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser)
|
rs140519765
|
0.00006
|
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly)
|
rs775074100
|
0.00006
|
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)
|
rs201953114
|
0.00006
|
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala)
|
rs759395609
|
0.00006
|
NM_173660.5(DOK7):c.327C>T (p.Gly109=)
|
rs377367035
|
0.00006
|
NM_173660.5(DOK7):c.532+9G>A
|
rs374795386
|
0.00006
|
NM_173660.5(DOK7):c.54+32G>C
|
rs763739780
|
0.00006
|
NM_173660.5(DOK7):c.639G>A (p.Arg213=)
|
rs1411499971
|
0.00006
|
NM_173660.5(DOK7):c.653-9C>G
|
rs1350076940
|
0.00006
|
NM_173660.5(DOK7):c.882G>A (p.Thr294=)
|
rs369425286
|
0.00006
|
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg)
|
rs759691572
|
0.00006
|
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp)
|
rs376280466
|
0.00006
|
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln)
|
rs750929473
|
0.00006
|
NM_173660.5(DOK7):c.996C>T (p.Arg332=)
|
rs781199587
|
0.00006
|
NM_198576.4(AGRN):c.1177+7G>A
|
rs369788908
|
0.00006
|
NM_198576.4(AGRN):c.1384+11C>T
|
rs757374706
|
0.00006
|
NM_198576.4(AGRN):c.1385-13G>A
|
rs773483670
|
0.00006
|
NM_198576.4(AGRN):c.1539C>T (p.Cys513=)
|
rs370615022
|
0.00006
|
NM_198576.4(AGRN):c.1659C>T (p.Cys553=)
|
rs541915367
|
0.00006
|
NM_198576.4(AGRN):c.1695C>T (p.Pro565=)
|
rs778573221
|
0.00006
|
NM_198576.4(AGRN):c.1729G>A (p.Glu577Lys)
|
rs370516291
|
0.00006
|
NM_198576.4(AGRN):c.1749C>T (p.His583=)
|
rs777039259
|
0.00006
|
NM_198576.4(AGRN):c.1945G>A (p.Ala649Thr)
|
rs555209196
|
0.00006
|
NM_198576.4(AGRN):c.1989G>A (p.Pro663=)
|
rs374358844
|
0.00006
|
NM_198576.4(AGRN):c.2219G>A (p.Arg740Gln)
|
rs146863919
|
0.00006
|
NM_198576.4(AGRN):c.2473C>T (p.Arg825Cys)
|
rs370387335
|
0.00006
|
NM_198576.4(AGRN):c.2538C>G (p.Pro846=)
|
rs376387543
|
0.00006
|
NM_198576.4(AGRN):c.2805+17G>A
|
rs373750601
|
0.00006
|
NM_198576.4(AGRN):c.3516+8G>A
|
rs199620555
|
0.00006
|
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His)
|
rs149762107
|
0.00006
|
NM_198576.4(AGRN):c.3662G>A (p.Arg1221Gln)
|
rs764139323
|
0.00006
|
NM_198576.4(AGRN):c.3718C>T (p.Pro1240Ser)
|
rs768688185
|
0.00006
|
NM_198576.4(AGRN):c.3839C>T (p.Pro1280Leu)
|
rs774023993
|
0.00006
|
NM_198576.4(AGRN):c.4124C>T (p.Pro1375Leu)
|
rs750116279
|
0.00006
|
NM_198576.4(AGRN):c.4167C>T (p.Arg1389=)
|
rs74726601
|
0.00006
|
NM_198576.4(AGRN):c.4298+6C>T
|
rs199977575
|
0.00006
|
NM_198576.4(AGRN):c.4338C>T (p.Ala1446=)
|
rs755467815
|
0.00006
|
NM_198576.4(AGRN):c.4371G>A (p.Leu1457=)
|
rs774243334
|
0.00006
|
NM_198576.4(AGRN):c.4406C>T (p.Ser1469Leu)
|
rs200646795
|
0.00006
|
NM_198576.4(AGRN):c.4542C>T (p.Ala1514=)
|
rs937680674
|
0.00006
|
NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys)
|
rs550316749
|
0.00006
|
NM_198576.4(AGRN):c.4602T>G (p.Ile1534Met)
|
rs771367279
|
0.00006
|
NM_198576.4(AGRN):c.464-7C>T
|
rs753696645
|
0.00006
|
NM_198576.4(AGRN):c.4731G>A (p.Pro1577=)
|
rs115885544
|
0.00006
|
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser)
|
rs556296275
|
0.00006
|
NM_198576.4(AGRN):c.4786C>T (p.Pro1596Ser)
|
rs777910926
|
0.00006
|
NM_198576.4(AGRN):c.4871G>C (p.Cys1624Ser)
|
rs758206649
|
0.00006
|
NM_198576.4(AGRN):c.4989G>A (p.Ala1663=)
|
rs371635309
|
0.00006
|
NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser)
|
rs142783040
|
0.00006
|
NM_198576.4(AGRN):c.5075C>T (p.Ser1692Leu)
|
rs143143061
|
0.00006
|
NM_198576.4(AGRN):c.5216G>A (p.Arg1739His)
|
rs762052033
|
0.00006
|
NM_198576.4(AGRN):c.5274C>T (p.Asn1758=)
|
rs776201093
|
0.00006
|
NM_198576.4(AGRN):c.5370+18G>A
|
rs370604699
|
0.00006
|
NM_198576.4(AGRN):c.5370+9G>A
|
rs774988688
|
0.00006
|
NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp)
|
rs757150379
|
0.00006
|
NM_198576.4(AGRN):c.5564-18C>T
|
rs187269631
|
0.00006
|
NM_198576.4(AGRN):c.5651+14C>T
|
rs766872717
|
0.00006
|
NM_198576.4(AGRN):c.5674C>T (p.His1892Tyr)
|
rs201518881
|
0.00006
|
NM_198576.4(AGRN):c.5948C>T (p.Thr1983Met)
|
rs147569326
|
0.00006
|
NM_000080.4(CHRNE):c.1033-20A>G
|
rs1449745005
|
0.00005
|
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu)
|
rs371919434
|
0.00005
|
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
|
rs140763858
|
0.00005
|
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=)
|
rs781427923
|
0.00005
|
NM_000747.3(CHRNB1):c.1365+16G>T
|
rs749948799
|
0.00005
|
NM_000747.3(CHRNB1):c.419G>T (p.Arg140Leu)
|
rs140086721
|
0.00005
|
NM_000747.3(CHRNB1):c.852G>T (p.Leu284=)
|
rs145826933
|
0.00005
|
NM_001171613.2(PREPL):c.-36G>A
|
rs147513483
|
0.00005
|
NM_001171613.2(PREPL):c.-49+1735A>G
|
rs374974603
|
0.00005
|
NM_001171613.2(PREPL):c.-49+1866C>T
|
rs202213424
|
0.00005
|
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=)
|
rs375673588
|
0.00005
|
NM_001171613.2(PREPL):c.1828-17T>A
|
rs746448655
|
0.00005
|
NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)
|
rs200761047
|
0.00005
|
NM_001244710.2(GFPT1):c.1324+3G>A
|
rs367865496
|
0.00005
|
NM_001244710.2(GFPT1):c.224-10T>C
|
rs777508704
|
0.00005
|
NM_001244710.2(GFPT1):c.739+11C>T
|
rs576618872
|
0.00005
|
NM_001382.4(DPAGT1):c.644-10G>A
|
rs192269738
|
0.00005
|
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn)
|
rs770279192
|
0.00005
|
NM_002334.4(LRP4):c.1437C>T (p.Arg479=)
|
rs141108617
|
0.00005
|
NM_002334.4(LRP4):c.1779C>T (p.Ala593=)
|
rs202063944
|
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.3837C>T (p.Asp1279=)
|
rs779045515
|
0.00005
|
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=)
|
rs752801557
|
0.00005
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)
|
rs146362081
|
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_002334.4(LRP4):c.5672C>T (p.Thr1891Met)
|
rs372637156
|
0.00005
|
NM_002334.4(LRP4):c.922+13G>A
|
rs771013783
|
0.00005
|
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met)
|
rs570140663
|
0.00005
|
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile)
|
rs200892332
|
0.00005
|
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met)
|
rs770633491
|
0.00005
|
NM_005055.5(RAPSN):c.363C>T (p.Leu121=)
|
rs190548363
|
0.00005
|
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg)
|
rs150756111
|
0.00005
|
NM_005055.5(RAPSN):c.690+4G>A
|
rs201803329
|
0.00005
|
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)
|
rs772054419
|
0.00005
|
NM_005592.4(MUSK):c.1259G>A (p.Gly420Glu)
|
rs373421409
|
0.00005
|
NM_005592.4(MUSK):c.1542T>G (p.Thr514=)
|
rs762656586
|
0.00005
|
NM_005592.4(MUSK):c.1674G>A (p.Pro558=)
|
rs541645382
|
0.00005
|
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser)
|
rs747203404
|
0.00005
|
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu)
|
rs181652070
|
0.00005
|
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)
|
rs777853943
|
0.00005
|
NM_005592.4(MUSK):c.206+9T>C
|
rs753218110
|
0.00005
|
NM_005592.4(MUSK):c.486+12T>A
|
rs757179369
|
0.00005
|
NM_005592.4(MUSK):c.885C>T (p.Ala295=)
|
rs756029372
|
0.00005
|
NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys)
|
rs779594053
|
0.00005
|
NM_005677.4(COLQ):c.1289A>C (p.Tyr430Ser)
|
rs121908923
|
0.00005
|
NM_005677.4(COLQ):c.428C>A (p.Pro143His)
|
rs373840796
|
0.00005
|
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr)
|
rs372758559
|
0.00005
|
NM_020549.5(CHAT):c.114G>C (p.Gln38His)
|
rs746540866
|
0.00005
|
NM_020549.5(CHAT):c.1230C>T (p.Gly410=)
|
rs779724822
|
0.00005
|
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys)
|
rs765549293
|
0.00005
|
NM_020549.5(CHAT):c.156C>T (p.Ala52=)
|
rs1286222980
|
0.00005
|
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp)
|
rs771548584
|
0.00005
|
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu)
|
rs777336258
|
0.00005
|
NM_021815.5(SLC5A7):c.178+16G>C
|
rs756377938
|
0.00005
|
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=)
|
rs368109143
|
0.00005
|
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe)
|
rs763294235
|
0.00005
|
NM_033087.4(ALG2):c.1200T>C (p.Pro400=)
|
rs764916897
|
0.00005
|
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
|
rs762560638
|
0.00005
|
NM_130811.4(SNAP25):c.513C>T (p.Ile171=)
|
rs372122045
|
0.00005
|
NM_144988.4(ALG14):c.540G>A (p.Thr180=)
|
rs767937526
|
0.00005
|
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala)
|
rs377326004
|
0.00005
|
NM_173660.5(DOK7):c.201C>T (p.Pro67=)
|
rs770153614
|
0.00005
|
NM_173660.5(DOK7):c.314G>A (p.Arg105His)
|
rs776352781
|
0.00005
|
NM_173660.5(DOK7):c.331+16C>T
|
rs577280323
|
0.00005
|
NM_173660.5(DOK7):c.378C>T (p.Ser126=)
|
rs753043554
|
0.00005
|
NM_173660.5(DOK7):c.54+8C>T
|
rs577687998
|
0.00005
|
NM_173660.5(DOK7):c.653-18G>C
|
rs762076600
|
0.00005
|
NM_173660.5(DOK7):c.822C>T (p.Asp274=)
|
rs141732576
|
0.00005
|
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr)
|
rs759117081
|
0.00005
|
NM_173660.5(DOK7):c.968G>A (p.Arg323His)
|
rs763188032
|
0.00005
|
NM_198576.4(AGRN):c.1271C>T (p.Ala424Val)
|
rs768774592
|
0.00005
|
NM_198576.4(AGRN):c.1567G>A (p.Gly523Arg)
|
rs377608464
|
0.00005
|
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser)
|
rs145162376
|
0.00005
|
NM_198576.4(AGRN):c.3074G>A (p.Arg1025Gln)
|
rs372696395
|
0.00005
|
NM_198576.4(AGRN):c.3165C>T (p.Ser1055=)
|
rs753211720
|
0.00005
|
NM_198576.4(AGRN):c.3251-11C>T
|
rs780751901
|
0.00005
|
NM_198576.4(AGRN):c.3388+10C>T
|
rs192594415
|
0.00005
|
NM_198576.4(AGRN):c.3910G>A (p.Ala1304Thr)
|
rs375590400
|
0.00005
|
NM_198576.4(AGRN):c.4113C>T (p.Gly1371=)
|
rs765481875
|
0.00005
|
NM_198576.4(AGRN):c.4286G>A (p.Arg1429His)
|
rs756082014
|
0.00005
|
NM_198576.4(AGRN):c.4298+11A>T
|
rs369279324
|
0.00005
|
NM_198576.4(AGRN):c.4572C>T (p.Asp1524=)
|
rs755754244
|
0.00005
|
NM_198576.4(AGRN):c.4586G>A (p.Arg1529His)
|
rs369873010
|
0.00005
|
NM_198576.4(AGRN):c.4883C>T (p.Ser1628Leu)
|
rs368849231
|
0.00005
|
NM_198576.4(AGRN):c.5076G>A (p.Ser1692=)
|
rs376271121
|
0.00005
|
NM_198576.4(AGRN):c.5210C>T (p.Ala1737Val)
|
rs374922434
|
0.00005
|
NM_198576.4(AGRN):c.526C>T (p.Leu176=)
|
rs544749044
|
0.00005
|
NM_198576.4(AGRN):c.5744G>A (p.Arg1915Gln)
|
rs150134229
|
0.00005
|
NM_198576.4(AGRN):c.5767A>G (p.Ile1923Val)
|
rs759500435
|
0.00005
|
NM_198576.4(AGRN):c.5799C>T (p.Asn1933=)
|
rs755986768
|
0.00005
|
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr)
|
rs766962416
|
0.00005
|
NM_198576.4(AGRN):c.675G>A (p.Arg225=)
|
rs922712578
|
0.00005
|
NM_198576.4(AGRN):c.973C>T (p.Pro325Ser)
|
rs891174893
|
0.00005
|
NM_000080.4(CHRNE):c.1032+17C>T
|
rs372131102
|
0.00004
|
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=)
|
rs772143528
|
0.00004
|
NM_000080.4(CHRNE):c.1137C>G (p.Leu379=)
|
rs368940455
|
0.00004
|
NM_000080.4(CHRNE):c.1220-6C>T
|
rs56251503
|
0.00004
|
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser)
|
rs372515997
|
0.00004
|
NM_000080.4(CHRNE):c.1332G>C (p.Val444=)
|
rs376975376
|
0.00004
|
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=)
|
rs753202734
|
0.00004
|
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=)
|
rs201030784
|
0.00004
|
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met)
|
rs771016534
|
0.00004
|
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=)
|
rs377178938
|
0.00004
|
NM_000080.4(CHRNE):c.15G>A (p.Pro5=)
|
rs756933520
|
0.00004
|
NM_000080.4(CHRNE):c.46+8C>T
|
rs371778870
|
0.00004
|
NM_000080.4(CHRNE):c.543C>G (p.Ala181=)
|
rs766195083
|
0.00004
|
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala)
|
rs1336284577
|
0.00004
|
NM_000080.4(CHRNE):c.780C>T (p.Leu260=)
|
rs766792066
|
0.00004
|
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser)
|
rs762509943
|
0.00004
|
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser)
|
rs745821689
|
0.00004
|
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met)
|
rs146533655
|
0.00004
|
NM_000080.4(CHRNE):c.951C>T (p.Leu317=)
|
rs757563966
|
0.00004
|
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr)
|
rs760292772
|
0.00004
|
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala)
|
rs202144045
|
0.00004
|
NM_000747.3(CHRNB1):c.1248G>A (p.Leu416=)
|
rs774757392
|
0.00004
|
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu)
|
rs762250406
|
0.00004
|
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val)
|
rs761035556
|
0.00004
|
NM_000747.3(CHRNB1):c.286G>T (p.Asp96Tyr)
|
rs778968747
|
0.00004
|
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His)
|
rs776217572
|
0.00004
|
NM_000747.3(CHRNB1):c.407A>G (p.Asp136Gly)
|
rs370702418
|
0.00004
|
NM_000747.3(CHRNB1):c.462+6C>T
|
rs780337044
|
0.00004
|
NM_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter)
|
rs201033437
|
0.00004
|
NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser)
|
rs761717412
|
0.00004
|
NM_000747.3(CHRNB1):c.909A>G (p.Leu303=)
|
rs774773039
|
0.00004
|
NM_000747.3(CHRNB1):c.90C>T (p.Leu30=)
|
rs753018299
|
0.00004
|
NM_001145536.2(C17orf107):c.*2079G>A
|
rs1415170062
|
0.00004
|
NM_001171613.2(PREPL):c.-49+1888G>A
|
rs575814799
|
0.00004
|
NM_001171613.2(PREPL):c.1066C>T (p.Arg356Cys)
|
rs201468991
|
0.00004
|
NM_001171613.2(PREPL):c.1084A>G (p.Lys362Glu)
|
rs146886697
|
0.00004
|
NM_001171613.2(PREPL):c.1105A>G (p.Met369Val)
|
rs182854421
|
0.00004
|
NM_001171613.2(PREPL):c.1150C>G (p.Pro384Ala)
|
rs780193886
|
0.00004
|
NM_001171613.2(PREPL):c.143-18G>A
|
rs570783617
|
0.00004
|
NM_001171613.2(PREPL):c.1623A>G (p.Lys541=)
|
rs768191033
|
0.00004
|
NM_001171613.2(PREPL):c.1642A>G (p.Ile548Val)
|
rs151116193
|
0.00004
|
NM_001171613.2(PREPL):c.1725C>T (p.Ile575=)
|
rs775908458
|
0.00004
|
NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys)
|
rs142051325
|
0.00004
|
NM_001171613.2(PREPL):c.206T>C (p.Ile69Thr)
|
rs752887453
|
0.00004
|
NM_001171613.2(PREPL):c.283T>G (p.Cys95Gly)
|
rs569491440
|
0.00004
|
NM_001171613.2(PREPL):c.604C>T (p.Leu202Phe)
|
rs147910302
|
0.00004
|
NM_001171613.2(PREPL):c.716C>T (p.Ala239Val)
|
rs778761279
|
0.00004
|
NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg)
|
rs926904705
|
0.00004
|
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=)
|
rs772941507
|
0.00004
|
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=)
|
rs537066687
|
0.00004
|
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=)
|
rs141520017
|
0.00004
|
NM_001244710.2(GFPT1):c.845+18A>C
|
rs373520133
|
0.00004
|
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=)
|
rs754486756
|
0.00004
|
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_001382.4(DPAGT1):c.162-6C>T
|
rs761454590
|
0.00004
|
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=)
|
rs756818317
|
0.00004
|
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)
|
rs773853061
|
0.00004
|
NM_001382.4(DPAGT1):c.728+6T>C
|
rs373170483
|
0.00004
|
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)
|
rs148456240
|
0.00004
|
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)
|
rs556905132
|
0.00004
|
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser)
|
rs765602909
|
0.00004
|
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)
|
rs750627555
|
0.00004
|
NM_002334.4(LRP4):c.1309+6G>T
|
rs532952316
|
0.00004
|
NM_002334.4(LRP4):c.132C>T (p.Cys44=)
|
rs760552036
|
0.00004
|
NM_002334.4(LRP4):c.1481G>A (p.Arg494His)
|
rs777801967
|
0.00004
|
NM_002334.4(LRP4):c.1668C>T (p.Pro556=)
|
rs766741394
|
0.00004
|
NM_002334.4(LRP4):c.1932C>T (p.Phe644=)
|
rs1011484252
|
0.00004
|
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys)
|
rs1323412236
|
0.00004
|
NM_002334.4(LRP4):c.2093-16T>C
|
rs751168409
|
0.00004
|
NM_002334.4(LRP4):c.2202C>T (p.His734=)
|
rs757999800
|
0.00004
|
NM_002334.4(LRP4):c.2358C>T (p.His786=)
|
rs371677748
|
0.00004
|
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)
|
rs145557677
|
0.00004
|
NM_002334.4(LRP4):c.2610C>T (p.Gly870=)
|
rs751431064
|
0.00004
|
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)
|
rs376848284
|
0.00004
|
NM_002334.4(LRP4):c.2766C>T (p.Ala922=)
|
rs773599397
|
0.00004
|
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg)
|
rs368880157
|
0.00004
|
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val)
|
rs748636802
|
0.00004
|
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile)
|
rs763514608
|
0.00004
|
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr)
|
rs142904009
|
0.00004
|
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=)
|
rs768821263
|
0.00004
|
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)
|
rs369916883
|
0.00004
|
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)
|
rs185084650
|
0.00004
|
NM_002334.4(LRP4):c.4665T>C (p.His1555=)
|
rs145206396
|
0.00004
|
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=)
|
rs780329570
|
0.00004
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
NM_002334.4(LRP4):c.53-7C>T
|
rs745407997
|
0.00004
|
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His)
|
rs146542222
|
0.00004
|
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)
|
rs375391856
|
0.00004
|
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)
|
rs751494811
|
0.00004
|
NM_002334.4(LRP4):c.761C>T (p.Ala254Val)
|
rs767281769
|
0.00004
|
NM_002334.4(LRP4):c.933A>G (p.Gln311=)
|
rs375108263
|
0.00004
|
NM_003081.5(SNAP25):c.73-9A>G
|
rs371883444
|
0.00004
|
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser)
|
rs372865599
|
0.00004
|
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)
|
rs145507075
|
0.00004
|
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp)
|
rs201725858
|
0.00004
|
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)
|
rs141877523
|
0.00004
|
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys)
|
rs769989407
|
0.00004
|
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)
|
rs138863694
|
0.00004
|
NM_005055.5(RAPSN):c.690+19G>A
|
rs183974908
|
0.00004
|
NM_005055.5(RAPSN):c.708G>A (p.Ala236=)
|
rs770777539
|
0.00004
|
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr)
|
rs771749514
|
0.00004
|
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro)
|
rs104894293
|
0.00004
|
NM_005055.5(RAPSN):c.889G>A (p.Val297Met)
|
rs369570812
|
0.00004
|
NM_005592.4(MUSK):c.1100G>A (p.Arg367Gln)
|
rs1038479586
|
0.00004
|
NM_005592.4(MUSK):c.1323T>C (p.His441=)
|
rs369015815
|
0.00004
|
NM_005592.4(MUSK):c.1522G>A (p.Val508Met)
|
rs769267043
|
0.00004
|
NM_005592.4(MUSK):c.207-5T>C
|
rs779359576
|
0.00004
|
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)
|
rs547450130
|
0.00004
|
NM_005592.4(MUSK):c.2283C>T (p.Asn761=)
|
rs777419932
|
0.00004
|
NM_005592.4(MUSK):c.2286C>T (p.Asp762=)
|
rs199832657
|
0.00004
|
NM_005592.4(MUSK):c.2403G>A (p.Gln801=)
|
rs372194698
|
0.00004
|
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr)
|
rs760757288
|
0.00004
|
NM_005592.4(MUSK):c.358+19C>T
|
rs376236950
|
0.00004
|
NM_005592.4(MUSK):c.397A>G (p.Ile133Val)
|
rs570136508
|
0.00004
|
NM_005592.4(MUSK):c.453A>G (p.Ser151=)
|
rs373961420
|
0.00004
|
NM_005592.4(MUSK):c.486+15T>C
|
rs369902312
|
0.00004
|
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln)
|
rs188464904
|
0.00004
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)
|
rs1319203200
|
0.00004
|
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu)
|
rs372064982
|
0.00004
|
NM_005677.4(COLQ):c.1164C>T (p.Asp388=)
|
rs149852377
|
0.00004
|
NM_005677.4(COLQ):c.1196-15_1196-13del
|
rs758190106
|
0.00004
|
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys)
|
rs141721093
|
0.00004
|
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys)
|
rs763096476
|
0.00004
|
NM_005677.4(COLQ):c.164C>T (p.Thr55Met)
|
rs774271810
|
0.00004
|
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln)
|
rs775959815
|
0.00004
|
NM_005677.4(COLQ):c.250C>T (p.Leu84=)
|
rs369308750
|
0.00004
|
NM_005677.4(COLQ):c.522C>T (p.Gly174=)
|
rs113843907
|
0.00004
|
NM_005677.4(COLQ):c.600+15C>T
|
rs759209415
|
0.00004
|
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu)
|
rs374642884
|
0.00004
|
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu)
|
rs200479277
|
0.00004
|
NM_005677.4(COLQ):c.794C>T (p.Pro265Leu)
|
rs1366896613
|
0.00004
|
NM_005677.4(COLQ):c.858G>T (p.Gly286=)
|
rs756396914
|
0.00004
|
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys)
|
rs778837182
|
0.00004
|
NM_020549.5(CHAT):c.1037G>A (p.Arg346His)
|
rs779668516
|
0.00004
|
NM_020549.5(CHAT):c.1062G>A (p.Thr354=)
|
rs529337162
|
0.00004
|
NM_020549.5(CHAT):c.1074G>A (p.Arg358=)
|
rs371905802
|
0.00004
|
NM_020549.5(CHAT):c.1105G>A (p.Val369Met)
|
rs769754418
|
0.00004
|
NM_020549.5(CHAT):c.1467G>A (p.Pro489=)
|
rs558057516
|
0.00004
|
NM_020549.5(CHAT):c.1512-5C>A
|
rs187862179
|
0.00004
|
NM_020549.5(CHAT):c.1668C>T (p.Ser556=)
|
rs55702495
|
0.00004
|
NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)
|
rs372760913
|
0.00004
|
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr)
|
rs750002983
|
0.00004
|
NM_020549.5(CHAT):c.1771G>A (p.Val591Met)
|
rs201485243
|
0.00004
|
NM_020549.5(CHAT):c.1971T>C (p.Thr657=)
|
rs368254411
|
0.00004
|
NM_020549.5(CHAT):c.1977+5G>A
|
rs780449243
|
0.00004
|
NM_020549.5(CHAT):c.287-4C>G
|
rs779267880
|
0.00004
|
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn)
|
rs756138129
|
0.00004
|
NM_020549.5(CHAT):c.388-4C>T
|
rs369932994
|
0.00004
|
NM_020549.5(CHAT):c.414G>A (p.Pro138=)
|
rs199675090
|
0.00004
|
NM_020549.5(CHAT):c.886A>G (p.Ser296Gly)
|
rs141599748
|
0.00004
|
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=)
|
rs759819899
|
0.00004
|
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln)
|
rs757121838
|
0.00004
|
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe)
|
rs754554826
|
0.00004
|
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr)
|
rs200286711
|
0.00004
|
NM_021815.5(SLC5A7):c.178+17C>A
|
rs555753695
|
0.00004
|
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=)
|
rs138947334
|
0.00004
|
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=)
|
rs574474443
|
0.00004
|
NM_021815.5(SLC5A7):c.598-3C>T
|
rs191434558
|
0.00004
|
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=)
|
rs146618904
|
0.00004
|
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr)
|
rs375397889
|
0.00004
|
NM_033087.4(ALG2):c.1116A>G (p.Ala372=)
|
rs573570972
|
0.00004
|
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)
|
rs772649099
|
0.00004
|
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)
|
rs376959842
|
0.00004
|
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)
|
rs761793563
|
0.00004
|
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)
|
rs1372670324
|
0.00004
|
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
|
rs1156439417
|
0.00004
|
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)
|
rs780287266
|
0.00004
|
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)
|
rs925393788
|
0.00004
|
NM_033087.4(ALG2):c.657A>C (p.Leu219=)
|
rs201667181
|
0.00004
|
NM_033087.4(ALG2):c.687C>T (p.Leu229=)
|
rs762613857
|
0.00004
|
NM_130811.4(SNAP25):c.462C>T (p.Ser154=)
|
rs201639889
|
0.00004
|
NM_130811.4(SNAP25):c.527G>A (p.Arg176His)
|
rs751046094
|
0.00004
|
NM_130811.4(SNAP25):c.552+9G>A
|
rs375161376
|
0.00004
|
NM_144988.4(ALG14):c.140G>T (p.Gly47Val)
|
rs139758313
|
0.00004
|
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter)
|
rs367570129
|
0.00004
|
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)
|
rs199689080
|
0.00004
|
NM_144988.4(ALG14):c.406G>A (p.Val136Met)
|
rs374376710
|
0.00004
|
NM_173660.5(DOK7):c.1023C>T (p.Ala341=)
|
rs773612095
|
0.00004
|
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser)
|
rs760412846
|
0.00004
|
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr)
|
rs753026831
|
0.00004
|
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly)
|
rs771017173
|
0.00004
|
NM_173660.5(DOK7):c.1386C>T (p.Ser462=)
|
rs776733631
|
0.00004
|
NM_173660.5(DOK7):c.257C>T (p.Ala86Val)
|
rs575986565
|
0.00004
|
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln)
|
rs377554325
|
0.00004
|
NM_173660.5(DOK7):c.54+10C>T
|
rs1260785223
|
0.00004
|
NM_173660.5(DOK7):c.541G>A (p.Val181Ile)
|
rs146076204
|
0.00004
|
NM_173660.5(DOK7):c.652+14C>G
|
rs368188578
|
0.00004
|
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp)
|
rs140544446
|
0.00004
|
NM_173660.5(DOK7):c.772+20T>C
|
rs376466543
|
0.00004
|
NM_173660.5(DOK7):c.773-7G>A
|
rs775008753
|
0.00004
|
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu)
|
rs763936252
|
0.00004
|
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu)
|
rs748566350
|
0.00004
|
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala)
|
rs143821601
|
0.00004
|
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr)
|
rs754476094
|
0.00004
|
NM_198576.4(AGRN):c.1054C>T (p.Arg352Trp)
|
rs149868381
|
0.00004
|
NM_198576.4(AGRN):c.1112G>A (p.Gly371Asp)
|
rs201725247
|
0.00004
|
NM_198576.4(AGRN):c.1232G>A (p.Arg411His)
|
rs201787384
|
0.00004
|
NM_198576.4(AGRN):c.1277G>A (p.Arg426Lys)
|
rs761799771
|
0.00004
|
NM_198576.4(AGRN):c.1304C>T (p.Thr435Met)
|
rs777883200
|
0.00004
|
NM_198576.4(AGRN):c.1315G>A (p.Asp439Asn)
|
rs758713569
|
0.00004
|
NM_198576.4(AGRN):c.1352G>A (p.Arg451His)
|
rs760216957
|
0.00004
|
NM_198576.4(AGRN):c.1380G>A (p.Pro460=)
|
rs753038414
|
0.00004
|
NM_198576.4(AGRN):c.1586C>T (p.Ala529Val)
|
rs752221979
|
0.00004
|
NM_198576.4(AGRN):c.1638C>T (p.Cys546=)
|
rs142440782
|
0.00004
|
NM_198576.4(AGRN):c.1645G>A (p.Glu549Lys)
|
rs754363785
|
0.00004
|
NM_198576.4(AGRN):c.1654C>T (p.Arg552Cys)
|
rs556149611
|
0.00004
|
NM_198576.4(AGRN):c.1693C>T (p.Pro565Ser)
|
rs760195130
|
0.00004
|
NM_198576.4(AGRN):c.1710C>T (p.Asp570=)
|
rs758511854
|
0.00004
|
NM_198576.4(AGRN):c.1717A>T (p.Thr573Ser)
|
rs751832415
|
0.00004
|
NM_198576.4(AGRN):c.1744G>A (p.Val582Met)
|
rs141661464
|
0.00004
|
NM_198576.4(AGRN):c.1982C>T (p.Ala661Val)
|
rs767255310
|
0.00004
|
NM_198576.4(AGRN):c.1999+8G>A
|
rs757759138
|
0.00004
|
NM_198576.4(AGRN):c.2038G>A (p.Gly680Ser)
|
rs139983410
|
0.00004
|
NM_198576.4(AGRN):c.2246C>G (p.Ala749Gly)
|
rs777321497
|
0.00004
|
NM_198576.4(AGRN):c.2255-3C>T
|
rs199892129
|
0.00004
|
NM_198576.4(AGRN):c.2345G>A (p.Arg782Gln)
|
rs776934498
|
0.00004
|
NM_198576.4(AGRN):c.2349C>T (p.Gly783=)
|
rs773501739
|
0.00004
|
NM_198576.4(AGRN):c.2371+12A>G
|
rs375177822
|
0.00004
|
NM_198576.4(AGRN):c.2567G>A (p.Arg856Gln)
|
rs576278814
|
0.00004
|
NM_198576.4(AGRN):c.2600C>T (p.Ser867Leu)
|
rs1037530738
|
0.00004
|
NM_198576.4(AGRN):c.2631T>C (p.Cys877=)
|
rs545849353
|
0.00004
|
NM_198576.4(AGRN):c.2646C>T (p.Asp882=)
|
rs376524541
|
0.00004
|
NM_198576.4(AGRN):c.2706G>A (p.Ala902=)
|
rs138212489
|
0.00004
|
NM_198576.4(AGRN):c.2798C>T (p.Ala933Val)
|
rs375711798
|
0.00004
|
NM_198576.4(AGRN):c.288C>G (p.Gly96=)
|
rs369704878
|
0.00004
|
NM_198576.4(AGRN):c.2911+13G>A
|
rs370369992
|
0.00004
|
NM_198576.4(AGRN):c.2942C>T (p.Ser981Phe)
|
rs368058639
|
0.00004
|
NM_198576.4(AGRN):c.3006C>T (p.Gly1002=)
|
rs774744948
|
0.00004
|
NM_198576.4(AGRN):c.3162G>A (p.Ala1054=)
|
rs765687675
|
0.00004
|
NM_198576.4(AGRN):c.3251-13C>T
|
rs770438199
|
0.00004
|
NM_198576.4(AGRN):c.3354G>A (p.Thr1118=)
|
rs774878358
|
0.00004
|
NM_198576.4(AGRN):c.3366C>T (p.Asp1122=)
|
rs374090990
|
0.00004
|
NM_198576.4(AGRN):c.3516C>T (p.Thr1172=)
|
rs543142635
|
0.00004
|
NM_198576.4(AGRN):c.3524A>G (p.Asp1175Gly)
|
rs536978031
|
0.00004
|
NM_198576.4(AGRN):c.3543C>T (p.Asp1181=)
|
rs775453668
|
0.00004
|
NM_198576.4(AGRN):c.3544G>A (p.Val1182Ile)
|
rs748783998
|
0.00004
|
NM_198576.4(AGRN):c.3552G>A (p.Lys1184=)
|
rs200738126
|
0.00004
|
NM_198576.4(AGRN):c.3560G>A (p.Arg1187Gln)
|
rs772632690
|
0.00004
|
NM_198576.4(AGRN):c.3598G>A (p.Val1200Ile)
|
rs755901578
|
0.00004
|
NM_198576.4(AGRN):c.3752-6C>T
|
rs779516004
|
0.00004
|
NM_198576.4(AGRN):c.383A>G (p.His128Arg)
|
rs138808237
|
0.00004
|
NM_198576.4(AGRN):c.3861G>A (p.Arg1287=)
|
rs759115477
|
0.00004
|
NM_198576.4(AGRN):c.3867G>A (p.Pro1289=)
|
rs372005493
|
0.00004
|
NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met)
|
rs745898927
|
0.00004
|
NM_198576.4(AGRN):c.3952G>A (p.Val1318Met)
|
rs1044828934
|
0.00004
|
NM_198576.4(AGRN):c.3971C>T (p.Pro1324Leu)
|
rs770876851
|
0.00004
|
NM_198576.4(AGRN):c.4125G>A (p.Pro1375=)
|
rs375628080
|
0.00004
|
NM_198576.4(AGRN):c.4314G>A (p.Ser1438=)
|
rs375067610
|
0.00004
|
NM_198576.4(AGRN):c.4319C>T (p.Pro1440Leu)
|
rs1013476257
|
0.00004
|
NM_198576.4(AGRN):c.4367G>A (p.Arg1456His)
|
rs372604628
|
0.00004
|
NM_198576.4(AGRN):c.4402C>G (p.Leu1468Val)
|
rs765711896
|
0.00004
|
NM_198576.4(AGRN):c.4476C>T (p.Asp1492=)
|
rs764644357
|
0.00004
|
NM_198576.4(AGRN):c.4534G>A (p.Val1512Met)
|
rs201212251
|
0.00004
|
NM_198576.4(AGRN):c.463+19G>A
|
rs770610989
|
0.00004
|
NM_198576.4(AGRN):c.4644C>T (p.Cys1548=)
|
rs752280977
|
0.00004
|
NM_198576.4(AGRN):c.4651C>T (p.His1551Tyr)
|
rs771455197
|
0.00004
|
NM_198576.4(AGRN):c.4743C>T (p.Val1581=)
|
rs774687739
|
0.00004
|
NM_198576.4(AGRN):c.4879+10G>A
|
rs776398649
|
0.00004
|
NM_198576.4(AGRN):c.498G>A (p.Pro166=)
|
rs775955535
|
0.00004
|
NM_198576.4(AGRN):c.5169C>A (p.Ala1723=)
|
rs751301262
|
0.00004
|
NM_198576.4(AGRN):c.5221G>C (p.Gly1741Arg)
|
rs1051289078
|
0.00004
|
NM_198576.4(AGRN):c.5327G>A (p.Arg1776His)
|
rs757621899
|
0.00004
|
NM_198576.4(AGRN):c.5338G>A (p.Val1780Met)
|
rs375378609
|
0.00004
|
NM_198576.4(AGRN):c.5379C>T (p.Leu1793=)
|
rs748809971
|
0.00004
|
NM_198576.4(AGRN):c.5402C>T (p.Pro1801Leu)
|
rs762249229
|
0.00004
|
NM_198576.4(AGRN):c.5497G>A (p.Val1833Ile)
|
rs377622440
|
0.00004
|
NM_198576.4(AGRN):c.5626G>A (p.Glu1876Lys)
|
rs367790694
|
0.00004
|
NM_198576.4(AGRN):c.5651+11A>G
|
rs552512280
|
0.00004
|
NM_198576.4(AGRN):c.5652-3C>T
|
rs371046187
|
0.00004
|
NM_198576.4(AGRN):c.5861G>A (p.Arg1954Gln)
|
rs775547243
|
0.00004
|
NM_198576.4(AGRN):c.5990C>T (p.Pro1997Leu)
|
rs144091542
|
0.00004
|
NM_198576.4(AGRN):c.6097G>A (p.Ala2033Thr)
|
rs374026237
|
0.00004
|
NM_198576.4(AGRN):c.6100G>A (p.Val2034Ile)
|
rs760232764
|
0.00004
|
NM_198576.4(AGRN):c.672G>A (p.Gln224=)
|
rs761768203
|
0.00004
|
NM_198576.4(AGRN):c.711C>T (p.Leu237=)
|
rs779843530
|
0.00004
|
NM_000080.4(CHRNE):c.-95G>A
|
rs990457690
|
0.00003
|
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs)
|
rs1268475945
|
0.00003
|
NM_000080.4(CHRNE):c.1056C>T (p.Arg352=)
|
rs558633663
|
0.00003
|
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly)
|
rs200343520
|
0.00003
|
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg)
|
rs375652301
|
0.00003
|
NM_000080.4(CHRNE):c.802+7A>C
|
rs756213406
|
0.00003
|
NM_000080.4(CHRNE):c.971del (p.Ile324fs)
|
rs879255562
|
0.00003
|
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg)
|
rs747017964
|
0.00003
|
NM_000080.4(CHRNE):c.991C>A (p.Arg331=)
|
rs121909515
|
0.00003
|
NM_000747.3(CHRNB1):c.1003C>T (p.Arg335Cys)
|
rs779467380
|
0.00003
|
NM_000747.3(CHRNB1):c.1116G>A (p.Glu372=)
|
rs761970777
|
0.00003
|
NM_000747.3(CHRNB1):c.1365+5G>C
|
rs1051316024
|
0.00003
|
NM_000747.3(CHRNB1):c.354-8C>G
|
rs747533360
|
0.00003
|
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn)
|
rs766657460
|
0.00003
|
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg)
|
rs555348704
|
0.00003
|
NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg)
|
rs376604413
|
0.00003
|
NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile)
|
rs775150297
|
0.00003
|
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg)
|
rs749634279
|
0.00003
|
NM_001145536.2(C17orf107):c.*2083C>T
|
rs906477326
|
0.00003
|
NM_001145536.2(C17orf107):c.*982G>A
|
rs1175424462
|
0.00003
|
NM_001171613.2(PREPL):c.-49+1724A>C
|
rs771527567
|
0.00003
|
NM_001171613.2(PREPL):c.-49+1780A>G
|
rs769195229
|
0.00003
|
NM_001171613.2(PREPL):c.1169A>G (p.Tyr390Cys)
|
rs757204599
|
0.00003
|
NM_001171613.2(PREPL):c.1294G>A (p.Ala432Thr)
|
rs373786632
|
0.00003
|
NM_001171613.2(PREPL):c.1304G>A (p.Arg435His)
|
rs768429131
|
0.00003
|
NM_001171613.2(PREPL):c.1411G>C (p.Ala471Pro)
|
rs371299047
|
0.00003
|
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met)
|
rs780954540
|
0.00003
|
NM_001171613.2(PREPL):c.143-6A>G
|
rs766088205
|
0.00003
|
NM_001171613.2(PREPL):c.1500C>G (p.Leu500=)
|
rs751760140
|
0.00003
|
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys)
|
rs145088151
|
0.00003
|
NM_001171613.2(PREPL):c.1666G>A (p.Asp556Asn)
|
rs191681889
|
0.00003
|
NM_001171613.2(PREPL):c.1753+17A>C
|
rs752148765
|
0.00003
|
NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg)
|
rs779401831
|
0.00003
|
NM_001171613.2(PREPL):c.1797C>T (p.Gly599=)
|
rs1481266767
|
0.00003
|
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe)
|
rs751603399
|
0.00003
|
NM_001171613.2(PREPL):c.266A>G (p.Asp89Gly)
|
rs760040766
|
0.00003
|
NM_001171613.2(PREPL):c.410G>A (p.Arg137His)
|
rs371309095
|
0.00003
|
NM_001171613.2(PREPL):c.420C>T (p.Asp140=)
|
rs550765961
|
0.00003
|
NM_001171613.2(PREPL):c.455A>G (p.Asn152Ser)
|
rs763348800
|
0.00003
|
NM_001171613.2(PREPL):c.553A>G (p.Thr185Ala)
|
rs150028917
|
0.00003
|
NM_001171613.2(PREPL):c.760A>G (p.Met254Val)
|
rs771442588
|
0.00003
|
NM_001171613.2(PREPL):c.798T>G (p.Phe266Leu)
|
rs750048724
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=)
|
rs1207796251
|
0.00003
|
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=)
|
rs759065498
|
0.00003
|
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=)
|
rs759431850
|
0.00003
|
NM_001244710.2(GFPT1):c.685+15A>G
|
rs754593037
|
0.00003
|
NM_001244710.2(GFPT1):c.686-8A>G
|
rs747052866
|
0.00003
|
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp)
|
rs779427303
|
0.00003
|
NM_001244710.2(GFPT1):c.740-7G>A
|
rs1389698795
|
0.00003
|
NM_001244710.2(GFPT1):c.846-14T>C
|
rs373534126
|
0.00003
|
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=)
|
rs140814934
|
0.00003
|
NM_001382.4(DPAGT1):c.283-9C>T
|
rs746355462
|
0.00003
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_001382.4(DPAGT1):c.496+17C>T
|
rs749725470
|
0.00003
|
NM_001382.4(DPAGT1):c.644-15T>A
|
rs749199504
|
0.00003
|
NM_001382.4(DPAGT1):c.918-8C>T
|
rs531346717
|
0.00003
|
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)
|
rs368744612
|
0.00003
|
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)
|
rs374136996
|
0.00003
|
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val)
|
rs761341366
|
0.00003
|
NM_002334.4(LRP4):c.1368C>T (p.His456=)
|
rs570223328
|
0.00003
|
NM_002334.4(LRP4):c.1433G>A (p.Arg478His)
|
rs1349507715
|
0.00003
|
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg)
|
rs1389594811
|
0.00003
|
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu)
|
rs886048355
|
0.00003
|
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)
|
rs373683358
|
0.00003
|
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg)
|
rs754071316
|
0.00003
|
NM_002334.4(LRP4):c.3136+10A>G
|
rs377543577
|
0.00003
|
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln)
|
rs772332690
|
0.00003
|
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg)
|
rs758144252
|
0.00003
|
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)
|
rs751933622
|
0.00003
|
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)
|
rs570258125
|
0.00003
|
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=)
|
rs377557349
|
0.00003
|
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu)
|
rs749792822
|
0.00003
|
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=)
|
rs751449110
|
0.00003
|
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)
|
rs952249452
|
0.00003
|
NM_002334.4(LRP4):c.431-8C>T
|
rs150531536
|
0.00003
|
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn)
|
rs200746048
|
0.00003
|
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)
|
rs766025454
|
0.00003
|
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln)
|
rs142300637
|
0.00003
|
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)
|
rs767372563
|
0.00003
|
NM_002334.4(LRP4):c.501C>T (p.Cys167=)
|
rs369739623
|
0.00003
|
NM_002334.4(LRP4):c.504C>T (p.Asp168=)
|
rs749048211
|
0.00003
|
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)
|
rs1035754612
|
0.00003
|
NM_002334.4(LRP4):c.5385+13A>G
|
rs370288647
|
0.00003
|
NM_002334.4(LRP4):c.768T>C (p.Cys256=)
|
rs774343834
|
0.00003
|
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu)
|
rs772586265
|
0.00003
|
NM_002334.4(LRP4):c.842G>A (p.Arg281His)
|
rs146670859
|
0.00003
|
NM_002334.4(LRP4):c.968G>A (p.Arg323His)
|
rs745607286
|
0.00003
|
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)
|
rs565321918
|
0.00003
|
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His)
|
rs762532220
|
0.00003
|
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys)
|
rs201197735
|
0.00003
|
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr)
|
rs145197671
|
0.00003
|
NM_005055.5(RAPSN):c.246C>T (p.Leu82=)
|
rs780420252
|
0.00003
|
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val)
|
rs543224303
|
0.00003
|
NM_005055.5(RAPSN):c.567G>A (p.Ala189=)
|
rs886043559
|
0.00003
|
NM_005055.5(RAPSN):c.705C>T (p.Ile235=)
|
rs562539081
|
0.00003
|
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)
|
rs545915312
|
0.00003
|
NM_005055.5(RAPSN):c.717C>T (p.His239=)
|
rs576729861
|
0.00003
|
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln)
|
rs780963721
|
0.00003
|
NM_005055.5(RAPSN):c.729A>G (p.Pro243=)
|
rs1297914613
|
0.00003
|
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn)
|
rs768011436
|
0.00003
|
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg)
|
rs778371396
|
0.00003
|
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val)
|
rs760068830
|
0.00003
|
NM_005055.5(RAPSN):c.966+16G>A
|
rs759757902
|
0.00003
|
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys)
|
rs773285595
|
0.00003
|
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)
|
rs368044285
|
0.00003
|
NM_005592.4(MUSK):c.1385-3C>T
|
rs775863015
|
0.00003
|
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr)
|
rs776545636
|
0.00003
|
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr)
|
rs577931355
|
0.00003
|
NM_005592.4(MUSK):c.2300G>A (p.Arg767His)
|
rs370079610
|
0.00003
|
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr)
|
rs547322569
|
0.00003
|
NM_005592.4(MUSK):c.2406C>T (p.Pro802=)
|
rs1444464544
|
0.00003
|
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn)
|
rs187347916
|
0.00003
|
NM_005592.4(MUSK):c.754-6T>A
|
rs762500701
|
0.00003
|
NM_005677.4(COLQ):c.1005_1008del (p.Asn335fs)
|
rs1311078034
|
0.00003
|
NM_005677.4(COLQ):c.1224T>C (p.Gly408=)
|
rs1297066860
|
0.00003
|
NM_005677.4(COLQ):c.1299-20C>T
|
rs375712012
|
0.00003
|
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala)
|
rs375215281
|
0.00003
|
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys)
|
rs368932156
|
0.00003
|
NM_005677.4(COLQ):c.393+18C>T
|
rs769699068
|
0.00003
|
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala)
|
rs780362486
|
0.00003
|
NM_005677.4(COLQ):c.815-5C>T
|
rs771406985
|
0.00003
|
NM_020549.5(CHAT):c.1061C>T (p.Thr354Met)
|
rs769234940
|
0.00003
|
NM_020549.5(CHAT):c.1068C>T (p.Asp356=)
|
rs748193892
|
0.00003
|
NM_020549.5(CHAT):c.1281+8G>A
|
rs376227674
|
0.00003
|
NM_020549.5(CHAT):c.1550A>C (p.Asp517Ala)
|
rs1368752304
|
0.00003
|
NM_020549.5(CHAT):c.1635-5C>A
|
rs776745899
|
0.00003
|
NM_020549.5(CHAT):c.1654C>T (p.Pro552Ser)
|
rs147079245
|
0.00003
|
NM_020549.5(CHAT):c.1656C>T (p.Pro552=)
|
rs1268229300
|
0.00003
|
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val)
|
rs202040717
|
0.00003
|
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser)
|
rs923971969
|
0.00003
|
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln)
|
rs758448736
|
0.00003
|
NM_020549.5(CHAT):c.2183C>T (p.Thr728Ile)
|
rs74334349
|
0.00003
|
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met)
|
rs755783618
|
0.00003
|
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)
|
rs1056302745
|
0.00003
|
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala)
|
rs149711635
|
0.00003
|
NM_020549.5(CHAT):c.387+18C>A
|
rs758829418
|
0.00003
|
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)
|
rs202059535
|
0.00003
|
NM_020549.5(CHAT):c.620G>A (p.Arg207His)
|
rs764497513
|
0.00003
|
NM_020549.5(CHAT):c.910G>A (p.Val304Ile)
|
rs116362950
|
0.00003
|
NM_020549.5(CHAT):c.93G>C (p.Val31=)
|
rs1399903985
|
0.00003
|
NM_021815.5(SLC5A7):c.1114-14G>A
|
rs773703560
|
0.00003
|
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter)
|
rs751468033
|
0.00003
|
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg)
|
rs764287242
|
0.00003
|
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr)
|
rs199693962
|
0.00003
|
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn)
|
rs748431280
|
0.00003
|
NM_021815.5(SLC5A7):c.179-19A>C
|
rs775209241
|
0.00003
|
NM_021815.5(SLC5A7):c.179-20C>T
|
rs375281148
|
0.00003
|
NM_021815.5(SLC5A7):c.448+9C>A
|
rs759922183
|
0.00003
|
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met)
|
rs775903161
|
0.00003
|
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys)
|
rs1191969326
|
0.00003
|
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)
|
rs1329170357
|
0.00003
|
NM_033087.4(ALG2):c.159C>T (p.His53=)
|
rs527683080
|
0.00003
|
NM_033087.4(ALG2):c.1A>G (p.Met1Val)
|
rs750172644
|
0.00003
|
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)
|
rs934545988
|
0.00003
|
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)
|
rs752081241
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
0.00003
|
NM_033087.4(ALG2):c.495C>T (p.Tyr165=)
|
rs962112292
|
0.00003
|
NM_033087.4(ALG2):c.783G>A (p.Arg261=)
|
rs765386769
|
0.00003
|
NM_130811.4(SNAP25):c.114+13A>G
|
rs376612916
|
0.00003
|
NM_130811.4(SNAP25):c.393C>T (p.Gly131=)
|
rs761144395
|
0.00003
|
NM_130811.4(SNAP25):c.471C>T (p.Ile157=)
|
rs777212434
|
0.00003
|
NM_130811.4(SNAP25):c.552+8C>T
|
rs528347276
|
0.00003
|
NM_144988.4(ALG14):c.311G>A (p.Arg104Gln)
|
rs201781289
|
0.00003
|
NM_144988.4(ALG14):c.570T>A (p.His190Gln)
|
rs770065162
|
0.00003
|
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly)
|
rs769643041
|
0.00003
|
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=)
|
rs200284964
|
0.00003
|
NM_173660.5(DOK7):c.1083C>T (p.Asp361=)
|
rs554026540
|
0.00003
|
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser)
|
rs574663125
|
0.00003
|
NM_173660.5(DOK7):c.1262C>A (p.Pro421His)
|
rs373261147
|
0.00003
|
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly)
|
rs1390831169
|
0.00003
|
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu)
|
rs1057518522
|
0.00003
|
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala)
|
rs748438470
|
0.00003
|
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg)
|
rs865879271
|
0.00003
|
NM_173660.5(DOK7):c.1511_1513del (p.Pro504_Ter505delinsArg)
|
rs762345055
|
0.00003
|
NM_173660.5(DOK7):c.332-6C>G
|
rs1482072459
|
0.00003
|
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn)
|
rs368106071
|
0.00003
|
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu)
|
rs770987150
|
0.00003
|
NM_173660.5(DOK7):c.486C>T (p.Ala162=)
|
rs371609452
|
0.00003
|
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser)
|
rs762376200
|
0.00003
|
NM_173660.5(DOK7):c.54+3C>T
|
rs1560200971
|
0.00003
|
NM_173660.5(DOK7):c.55-16C>T
|
rs976572936
|
0.00003
|
NM_173660.5(DOK7):c.564G>A (p.Glu188=)
|
rs375631042
|
0.00003
|
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr)
|
rs1219693310
|
0.00003
|
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln)
|
rs371408752
|
0.00003
|
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu)
|
rs769699131
|
0.00003
|
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly)
|
rs370967580
|
0.00003
|
NM_173660.5(DOK7):c.773-18C>T
|
rs749706359
|
0.00003
|
NM_173660.5(DOK7):c.828C>T (p.Ser276=)
|
rs772682276
|
0.00003
|
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly)
|
rs754105518
|
0.00003
|
NM_173660.5(DOK7):c.864C>G (p.Ser288=)
|
rs554816775
|
0.00003
|
NM_173660.5(DOK7):c.94G>A (p.Val32Met)
|
rs1417673287
|
0.00003
|
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro)
|
rs752168445
|
0.00003
|
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys)
|
rs200394790
|
0.00003
|
NM_198576.4(AGRN):c.1118C>T (p.Ser373Leu)
|
rs747332721
|
0.00003
|
NM_198576.4(AGRN):c.1122G>A (p.Gly374=)
|
rs563020089
|
0.00003
|
NM_198576.4(AGRN):c.1155C>T (p.Arg385=)
|
rs373114285
|
0.00003
|
NM_198576.4(AGRN):c.1177+4A>G
|
rs28397093
|
0.00003
|
NM_198576.4(AGRN):c.1199G>A (p.Arg400Gln)
|
rs748219640
|
0.00003
|
NM_198576.4(AGRN):c.120G>A (p.Glu40=)
|
rs1453110514
|
0.00003
|
NM_198576.4(AGRN):c.1226G>A (p.Arg409His)
|
rs143161987
|
0.00003
|
NM_198576.4(AGRN):c.1254C>T (p.Arg418=)
|
rs748348470
|
0.00003
|
NM_198576.4(AGRN):c.1267G>A (p.Gly423Arg)
|
rs775192392
|
0.00003
|
NM_198576.4(AGRN):c.1411G>A (p.Val471Met)
|
rs148949051
|
0.00003
|
NM_198576.4(AGRN):c.1484C>T (p.Ser495Leu)
|
rs753280577
|
0.00003
|
NM_198576.4(AGRN):c.1518C>T (p.Gly506=)
|
rs139594136
|
0.00003
|
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met)
|
rs746322262
|
0.00003
|
NM_198576.4(AGRN):c.1589G>A (p.Arg530His)
|
rs139590454
|
0.00003
|
NM_198576.4(AGRN):c.1612G>A (p.Gly538Arg)
|
rs558214372
|
0.00003
|
NM_198576.4(AGRN):c.1728C>T (p.Ser576=)
|
rs768510595
|
0.00003
|
NM_198576.4(AGRN):c.1937G>A (p.Arg646Gln)
|
rs755605232
|
0.00003
|
NM_198576.4(AGRN):c.1969G>A (p.Glu657Lys)
|
rs377567167
|
0.00003
|
NM_198576.4(AGRN):c.2008G>A (p.Gly670Ser)
|
rs777497420
|
0.00003
|
NM_198576.4(AGRN):c.2070C>T (p.Arg690=)
|
rs146441147
|
0.00003
|
NM_198576.4(AGRN):c.2106G>A (p.Pro702=)
|
rs758527698
|
0.00003
|
NM_198576.4(AGRN):c.2148+8C>G
|
rs747897478
|
0.00003
|
NM_198576.4(AGRN):c.2149-4C>T
|
rs557551535
|
0.00003
|
NM_198576.4(AGRN):c.2313C>T (p.Tyr771=)
|
rs145920099
|
0.00003
|
NM_198576.4(AGRN):c.2324A>G (p.Gln775Arg)
|
rs370381176
|
0.00003
|
NM_198576.4(AGRN):c.2494A>G (p.Asn832Asp)
|
rs574793544
|
0.00003
|
NM_198576.4(AGRN):c.2521C>T (p.Arg841Trp)
|
rs745850324
|
0.00003
|
NM_198576.4(AGRN):c.2566C>T (p.Arg856Trp)
|
rs770329947
|
0.00003
|
NM_198576.4(AGRN):c.2725G>A (p.Gly909Ser)
|
rs368433481
|
0.00003
|
NM_198576.4(AGRN):c.2771C>T (p.Pro924Leu)
|
rs530518237
|
0.00003
|
NM_198576.4(AGRN):c.2832C>T (p.Tyr944=)
|
rs1230559646
|
0.00003
|
NM_198576.4(AGRN):c.2866C>T (p.Arg956Cys)
|
rs751407693
|
0.00003
|
NM_198576.4(AGRN):c.3057G>A (p.Pro1019=)
|
rs199554974
|
0.00003
|
NM_198576.4(AGRN):c.3119C>T (p.Thr1040Met)
|
rs751987634
|
0.00003
|
NM_198576.4(AGRN):c.3300C>T (p.Val1100=)
|
rs935964266
|
0.00003
|
NM_198576.4(AGRN):c.3301G>A (p.Glu1101Lys)
|
rs371389185
|
0.00003
|
NM_198576.4(AGRN):c.336C>T (p.Thr112=)
|
rs569638601
|
0.00003
|
NM_198576.4(AGRN):c.3453G>A (p.Thr1151=)
|
rs1350997043
|
0.00003
|
NM_198576.4(AGRN):c.3456C>T (p.Pro1152=)
|
rs368015466
|
0.00003
|
NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp)
|
rs149268246
|
0.00003
|
NM_198576.4(AGRN):c.3698G>A (p.Arg1233Gln)
|
rs746259185
|
0.00003
|
NM_198576.4(AGRN):c.3726G>C (p.Gln1242His)
|
rs1396984760
|
0.00003
|
NM_198576.4(AGRN):c.3727G>A (p.Glu1243Lys)
|
rs773267614
|
0.00003
|
NM_198576.4(AGRN):c.3831G>A (p.Ser1277=)
|
rs1281476060
|
0.00003
|
NM_198576.4(AGRN):c.3933C>A (p.Pro1311=)
|
rs1163975598
|
0.00003
|
NM_198576.4(AGRN):c.4051G>A (p.Gly1351Arg)
|
rs867208955
|
0.00003
|
NM_198576.4(AGRN):c.4093G>A (p.Val1365Ile)
|
rs745802920
|
0.00003
|
NM_198576.4(AGRN):c.4106-12C>T
|
rs766736643
|
0.00003
|
NM_198576.4(AGRN):c.4106-16C>T
|
rs761240917
|
0.00003
|
NM_198576.4(AGRN):c.4143C>T (p.Ser1381=)
|
rs747285842
|
0.00003
|
NM_198576.4(AGRN):c.426C>T (p.Thr142=)
|
rs771335673
|
0.00003
|
NM_198576.4(AGRN):c.4353G>A (p.Pro1451=)
|
rs181981987
|
0.00003
|
NM_198576.4(AGRN):c.4453G>A (p.Asp1485Asn)
|
rs760184240
|
0.00003
|
NM_198576.4(AGRN):c.449A>C (p.Glu150Ala)
|
rs149363091
|
0.00003
|
NM_198576.4(AGRN):c.4515-14C>T
|
rs757241549
|
0.00003
|
NM_198576.4(AGRN):c.4562G>A (p.Arg1521His)
|
rs371871999
|
0.00003
|
NM_198576.4(AGRN):c.459G>T (p.Val153=)
|
rs892523708
|
0.00003
|
NM_198576.4(AGRN):c.4608G>A (p.Pro1536=)
|
rs570277565
|
0.00003
|
NM_198576.4(AGRN):c.4622G>A (p.Arg1541Gln)
|
rs760702396
|
0.00003
|
NM_198576.4(AGRN):c.4654C>T (p.Pro1552Ser)
|
rs769748027
|
0.00003
|
NM_198576.4(AGRN):c.4738C>T (p.Arg1580Cys)
|
rs756579775
|
0.00003
|
NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile)
|
rs376043332
|
0.00003
|
NM_198576.4(AGRN):c.4744+19C>T
|
rs759402291
|
0.00003
|
NM_198576.4(AGRN):c.4758C>T (p.Ala1586=)
|
rs138071518
|
0.00003
|
NM_198576.4(AGRN):c.4834C>G (p.Gln1612Glu)
|
rs1276554627
|
0.00003
|
NM_198576.4(AGRN):c.4936C>T (p.Leu1646=)
|
rs371173182
|
0.00003
|
NM_198576.4(AGRN):c.4951C>T (p.Leu1651=)
|
rs781152491
|
0.00003
|
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met)
|
rs770750909
|
0.00003
|
NM_198576.4(AGRN):c.5071G>A (p.Val1691Met)
|
rs752964147
|
0.00003
|
NM_198576.4(AGRN):c.5093G>A (p.Arg1698His)
|
rs551658645
|
0.00003
|
NM_198576.4(AGRN):c.5141+7C>T
|
rs771799601
|
0.00003
|
NM_198576.4(AGRN):c.5181C>G (p.Val1727=)
|
rs1013137001
|
0.00003
|
NM_198576.4(AGRN):c.5200C>T (p.Arg1734Cys)
|
rs372565629
|
0.00003
|
NM_198576.4(AGRN):c.5258C>T (p.Pro1753Leu)
|
rs748126752
|
0.00003
|
NM_198576.4(AGRN):c.5410G>A (p.Val1804Met)
|
rs754158999
|
0.00003
|
NM_198576.4(AGRN):c.5449C>T (p.Pro1817Ser)
|
rs561181323
|
0.00003
|
NM_198576.4(AGRN):c.5483A>G (p.Asn1828Ser)
|
rs753473191
|
0.00003
|
NM_198576.4(AGRN):c.5615G>A (p.Arg1872Gln)
|
rs767076670
|
0.00003
|
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile)
|
rs540580770
|
0.00003
|
NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile)
|
rs745398279
|
0.00003
|
NM_198576.4(AGRN):c.5877-16C>T
|
rs371544818
|
0.00003
|
NM_198576.4(AGRN):c.5926G>A (p.Gly1976Ser)
|
rs781607506
|
0.00003
|
NM_198576.4(AGRN):c.5981-8T>C
|
rs1268727270
|
0.00003
|
NM_198576.4(AGRN):c.5998C>T (p.Pro2000Ser)
|
rs745821776
|
0.00003
|
NM_198576.4(AGRN):c.6077C>T (p.Pro2026Leu)
|
rs369944008
|
0.00003
|
NM_198576.4(AGRN):c.6091G>A (p.Glu2031Lys)
|
rs1028610040
|
0.00003
|
NM_198576.4(AGRN):c.6119G>A (p.Arg2040Gln)
|
rs527639453
|
0.00003
|
NM_198576.4(AGRN):c.663C>T (p.Cys221=)
|
rs955700514
|
0.00003
|
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr)
|
rs753435616
|
0.00003
|
NM_198576.4(AGRN):c.880G>A (p.Gly294Ser)
|
rs947705663
|
0.00003
|
NM_198576.4(AGRN):c.941A>T (p.Asp314Val)
|
rs1230475487
|
0.00003
|
NM_198576.4(AGRN):c.966C>T (p.Gly322=)
|
rs777762146
|
0.00003
|
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=)
|
rs1172630871
|
0.00002
|
NM_000080.4(CHRNE):c.1033-9C>A
|
rs1055824191
|
0.00002
|
NM_000080.4(CHRNE):c.1055G>A (p.Arg352His)
|
rs764744220
|
0.00002
|
NM_000080.4(CHRNE):c.1060C>T (p.Leu354=)
|
rs763847983
|
0.00002
|
NM_000080.4(CHRNE):c.1075C>T (p.Pro359Ser)
|
rs773187552
|
0.00002
|
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu)
|
rs753495337
|
0.00002
|
NM_000080.4(CHRNE):c.1146G>A (p.Glu382=)
|
rs1236139496
|
0.00002
|
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp)
|
rs754001856
|
0.00002
|
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)
|
rs747853975
|
0.00002
|
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met)
|
rs1049573372
|
0.00002
|
NM_000080.4(CHRNE):c.1327-10C>T
|
rs779066933
|
0.00002
|
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter)
|
rs763943642
|
0.00002
|
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=)
|
rs369916656
|
0.00002
|
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu)
|
rs575920043
|
0.00002
|
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=)
|
rs950225592
|
0.00002
|
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)
|
rs746521766
|
0.00002
|
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)
|
rs776927709
|
0.00002
|
NM_000080.4(CHRNE):c.235-5C>T
|
rs371818740
|
0.00002
|
NM_000080.4(CHRNE):c.237T>C (p.Asp79=)
|
rs777458923
|
0.00002
|
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro)
|
rs28929768
|
0.00002
|
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys)
|
rs779426416
|
0.00002
|
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr)
|
rs1276426047
|
0.00002
|
NM_000080.4(CHRNE):c.360C>T (p.Phe120=)
|
rs140042356
|
0.00002
|
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg)
|
rs372635387
|
0.00002
|
NM_000080.4(CHRNE):c.510G>A (p.Thr170=)
|
rs749454549
|
0.00002
|
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp)
|
rs1279921545
|
0.00002
|
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser)
|
rs753756406
|
0.00002
|
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met)
|
rs748765369
|
0.00002
|
NM_000080.4(CHRNE):c.720G>T (p.Pro240=)
|
rs1049141147
|
0.00002
|
NM_000080.4(CHRNE):c.756G>A (p.Val252=)
|
rs756407780
|
0.00002
|
NM_000080.4(CHRNE):c.803-2A>G
|
rs1320610655
|
0.00002
|
NM_000080.4(CHRNE):c.819C>T (p.Cys273=)
|
rs887770442
|
0.00002
|
NM_000080.4(CHRNE):c.852C>T (p.Thr284=)
|
rs770586668
|
0.00002
|
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser)
|
rs61735425
|
0.00002
|
NM_000080.4(CHRNE):c.906G>A (p.Pro302=)
|
rs374156332
|
0.00002
|
NM_000747.3(CHRNB1):c.1015A>G (p.Thr339Ala)
|
rs775070102
|
0.00002
|
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser)
|
rs780673811
|
0.00002
|
NM_000747.3(CHRNB1):c.1152T>C (p.Gly384=)
|
rs549061953
|
0.00002
|
NM_000747.3(CHRNB1):c.1389G>A (p.Val463=)
|
rs1283448996
|
0.00002
|
NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile)
|
rs1046733309
|
0.00002
|
NM_000747.3(CHRNB1):c.1476C>T (p.Tyr492=)
|
rs758446047
|
0.00002
|
NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe)
|
rs747251351
|
0.00002
|
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter)
|
rs766823872
|
0.00002
|
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro)
|
rs1157224283
|
0.00002
|
NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val)
|
rs866965972
|
0.00002
|
NM_000747.3(CHRNB1):c.499A>G (p.Met167Val)
|
rs755445802
|
0.00002
|
NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu)
|
rs756513117
|
0.00002
|
NM_000747.3(CHRNB1):c.608T>C (p.Ile203Thr)
|
rs1186710796
|
0.00002
|
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly)
|
rs372910299
|
0.00002
|
NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile)
|
rs753646298
|
0.00002
|
NM_001145536.2(C17orf107):c.*2235G>A
|
rs753134441
|
0.00002
|
NM_001171613.2(PREPL):c.1042A>G (p.Ile348Val)
|
rs893139776
|
0.00002
|
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=)
|
rs201427100
|
0.00002
|
NM_001171613.2(PREPL):c.1509G>A (p.Met503Ile)
|
rs753863367
|
0.00002
|
NM_001171613.2(PREPL):c.1562C>G (p.Pro521Arg)
|
rs778123136
|
0.00002
|
NM_001171613.2(PREPL):c.172A>G (p.Asn58Asp)
|
rs370680461
|
0.00002
|
NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=)
|
rs375511535
|
0.00002
|
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys)
|
rs892455452
|
0.00002
|
NM_001171613.2(PREPL):c.277T>A (p.Ser93Thr)
|
rs373911326
|
0.00002
|
NM_001171613.2(PREPL):c.293T>C (p.Ile98Thr)
|
rs370296906
|
0.00002
|
NM_001171613.2(PREPL):c.299T>C (p.Leu100Pro)
|
rs755031960
|
0.00002
|
NM_001171613.2(PREPL):c.363C>T (p.Asp121=)
|
rs183365746
|
0.00002
|
NM_001171613.2(PREPL):c.427C>T (p.Arg143Ter)
|
rs1361739547
|
0.00002
|
NM_001171613.2(PREPL):c.503A>G (p.Tyr168Cys)
|
rs775248800
|
0.00002
|
NM_001171613.2(PREPL):c.517A>G (p.Ser173Gly)
|
rs758838556
|
0.00002
|
NM_001171613.2(PREPL):c.552T>G (p.Thr184=)
|
rs774450920
|
0.00002
|
NM_001171613.2(PREPL):c.616C>T (p.Arg206Ter)
|
rs145356495
|
0.00002
|
NM_001171613.2(PREPL):c.703-5C>T
|
rs758435946
|
0.00002
|
NM_001171613.2(PREPL):c.747T>A (p.Asp249Glu)
|
rs761270066
|
0.00002
|
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=)
|
rs370693172
|
0.00002
|
NM_001244710.2(GFPT1):c.1482+16A>G
|
rs376276502
|
0.00002
|
NM_001244710.2(GFPT1):c.1726-9T>C
|
rs757234942
|
0.00002
|
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)
|
rs200986371
|
0.00002
|
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)
|
rs372725563
|
0.00002
|
NM_001244710.2(GFPT1):c.1894-14A>G
|
rs775899275
|
0.00002
|
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)
|
rs530830788
|
0.00002
|
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met)
|
rs751097758
|
0.00002
|
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=)
|
rs763874345
|
0.00002
|
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=)
|
rs764483590
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val)
|
rs1463544616
|
0.00002
|
NM_001244710.2(GFPT1):c.740-16T>A
|
rs749648987
|
0.00002
|
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)
|
rs747825322
|
0.00002
|
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
|
rs764519878
|
0.00002
|
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)
|
rs751806317
|
0.00002
|
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)
|
rs780625734
|
0.00002
|
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)
|
rs772211450
|
0.00002
|
NM_001382.4(DPAGT1):c.497-5C>T
|
rs556782038
|
0.00002
|
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
|
rs28934876
|
0.00002
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
NM_001382.4(DPAGT1):c.917+6C>T
|
rs539220035
|
0.00002
|
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)
|
rs780497256
|
0.00002
|
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met)
|
rs769661653
|
0.00002
|
NM_002334.4(LRP4):c.105A>C (p.Ala35=)
|
rs766633369
|
0.00002
|
NM_002334.4(LRP4):c.1200C>T (p.Ala400=)
|
rs755019127
|
0.00002
|
NM_002334.4(LRP4):c.1209G>A (p.Gly403=)
|
rs751742961
|
0.00002
|
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=)
|
rs373523952
|
0.00002
|
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)
|
rs143207358
|
0.00002
|
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln)
|
rs774924956
|
0.00002
|
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)
|
rs749530671
|
0.00002
|
NM_002334.4(LRP4):c.1731C>G (p.Pro577=)
|
rs762761020
|
0.00002
|
NM_002334.4(LRP4):c.1824C>T (p.Ala608=)
|
rs368577516
|
0.00002
|
NM_002334.4(LRP4):c.228T>C (p.Phe76=)
|
rs146007685
|
0.00002
|
NM_002334.4(LRP4):c.2425-20C>T
|
rs760531886
|
0.00002
|
NM_002334.4(LRP4):c.2481C>G (p.Thr827=)
|
rs759325895
|
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.2861A>G (p.Tyr954Cys)
|
rs775608977
|
0.00002
|
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg)
|
rs772232191
|
0.00002
|
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala)
|
rs766174802
|
0.00002
|
NM_002334.4(LRP4):c.2910C>T (p.Ser970=)
|
rs754936858
|
0.00002
|
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=)
|
rs534064794
|
0.00002
|
NM_002334.4(LRP4):c.3278-6C>T
|
rs373579793
|
0.00002
|
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln)
|
rs754092006
|
0.00002
|
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)
|
rs748719669
|
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.4082G>A (p.Arg1361His)
|
rs779038341
|
0.00002
|
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=)
|
rs775166531
|
0.00002
|
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)
|
rs200506943
|
0.00002
|
NM_002334.4(LRP4):c.471C>T (p.Asp157=)
|
rs765171137
|
0.00002
|
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp)
|
rs546318025
|
0.00002
|
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=)
|
rs369034386
|
0.00002
|
NM_002334.4(LRP4):c.5087+14A>G
|
rs376251083
|
0.00002
|
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser)
|
rs774058346
|
0.00002
|
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr)
|
rs914781633
|
0.00002
|
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala)
|
rs367608390
|
0.00002
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)
|
rs778676466
|
0.00002
|
NM_002334.4(LRP4):c.548-20C>A
|
rs1267038625
|
0.00002
|
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln)
|
rs779079160
|
0.00002
|
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)
|
rs749482785
|
0.00002
|
NM_002334.4(LRP4):c.585G>A (p.Glu195=)
|
rs147714102
|
0.00002
|
NM_002334.4(LRP4):c.923-16C>A
|
rs756847264
|
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.1002C>T (p.Ser334=)
|
rs376829572
|
0.00002
|
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=)
|
rs763094966
|
0.00002
|
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly)
|
rs768059942
|
0.00002
|
NM_005055.5(RAPSN):c.1167-17G>A
|
rs770347768
|
0.00002
|
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)
|
rs1013183854
|
0.00002
|
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)
|
rs1380619456
|
0.00002
|
NM_005055.5(RAPSN):c.360G>T (p.Gln120His)
|
rs780338213
|
0.00002
|
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)
|
rs199506866
|
0.00002
|
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)
|
rs104894294
|
0.00002
|
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe)
|
rs376041895
|
0.00002
|
NM_005055.5(RAPSN):c.650G>A (p.Arg217His)
|
rs763058066
|
0.00002
|
NM_005055.5(RAPSN):c.726G>A (p.Arg242=)
|
rs754654883
|
0.00002
|
NM_005055.5(RAPSN):c.912+20A>G
|
rs763929869
|
0.00002
|
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)
|
rs373175897
|
0.00002
|
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile)
|
rs571312240
|
0.00002
|
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys)
|
rs751972431
|
0.00002
|
NM_005592.4(MUSK):c.1257A>G (p.Arg419=)
|
rs550568354
|
0.00002
|
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp)
|
rs369240171
|
0.00002
|
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met)
|
rs777107917
|
0.00002
|
NM_005592.4(MUSK):c.1657A>G (p.Met553Val)
|
rs753213086
|
0.00002
|
NM_005592.4(MUSK):c.1716G>A (p.Arg572=)
|
rs747237685
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn)
|
rs147562871
|
0.00002
|
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys)
|
rs760793449
|
0.00002
|
NM_005592.4(MUSK):c.1928-13C>A
|
rs779820360
|
0.00002
|
NM_005592.4(MUSK):c.1944G>A (p.Gly648=)
|
rs1206244035
|
0.00002
|
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser)
|
rs779042240
|
0.00002
|
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg)
|
rs1216581384
|
0.00002
|
NM_005592.4(MUSK):c.2184C>A (p.Thr728=)
|
rs918997958
|
0.00002
|
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=)
|
rs779578271
|
0.00002
|
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln)
|
rs764486887
|
0.00002
|
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys)
|
rs769657813
|
0.00002
|
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)
|
rs754275653
|
0.00002
|
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys)
|
rs200450921
|
0.00002
|
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu)
|
rs370094071
|
0.00002
|
NM_005592.4(MUSK):c.359-19A>G
|
rs751238962
|
0.00002
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
NM_005592.4(MUSK):c.667G>A (p.Val223Ile)
|
rs774463260
|
0.00002
|
NM_005592.4(MUSK):c.744C>T (p.Asn248=)
|
rs765006536
|
0.00002
|
NM_005592.4(MUSK):c.753+7G>C
|
rs193147263
|
0.00002
|
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
NM_005592.4(MUSK):c.978T>C (p.Asn326=)
|
rs563391603
|
0.00002
|
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn)
|
rs749266800
|
0.00002
|
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp)
|
rs139574075
|
0.00002
|
NM_005677.4(COLQ):c.1254C>T (p.Asp418=)
|
rs777147864
|
0.00002
|
NM_005677.4(COLQ):c.1299-15C>A
|
rs994643666
|
0.00002
|
NM_005677.4(COLQ):c.282G>A (p.Met94Ile)
|
rs764250328
|
0.00002
|
NM_005677.4(COLQ):c.393+3A>G
|
rs1248479113
|
0.00002
|
NM_005677.4(COLQ):c.43C>T (p.Leu15Phe)
|
rs762844921
|
0.00002
|
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala)
|
rs748461738
|
0.00002
|
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys)
|
rs376385207
|
0.00002
|
NM_005677.4(COLQ):c.517A>G (p.Met173Val)
|
rs750324839
|
0.00002
|
NM_005677.4(COLQ):c.555+1G>A
|
rs769276577
|
0.00002
|
NM_005677.4(COLQ):c.555G>A (p.Lys185=)
|
rs750472473
|
0.00002
|
NM_005677.4(COLQ):c.556-7T>C
|
rs780166352
|
0.00002
|
NM_005677.4(COLQ):c.569A>G (p.Glu190Gly)
|
rs377364923
|
0.00002
|
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln)
|
rs764737302
|
0.00002
|
NM_005677.4(COLQ):c.769T>G (p.Ser257Ala)
|
rs754017581
|
0.00002
|
NM_005677.4(COLQ):c.88G>A (p.Val30Ile)
|
rs201234648
|
0.00002
|
NM_005677.4(COLQ):c.913G>A (p.Gly305Arg)
|
rs1553634795
|
0.00002
|
NM_005677.4(COLQ):c.942G>A (p.Pro314=)
|
rs771944316
|
0.00002
|
NM_005677.4(COLQ):c.954+6G>A
|
rs749018849
|
0.00002
|
NM_005677.4(COLQ):c.999C>A (p.Thr333=)
|
rs774279832
|
0.00002
|
NM_020549.5(CHAT):c.1026C>T (p.Asn342=)
|
rs752685760
|
0.00002
|
NM_020549.5(CHAT):c.1148G>A (p.Arg383His)
|
rs779919147
|
0.00002
|
NM_020549.5(CHAT):c.1186G>A (p.Val396Met)
|
rs536359684
|
0.00002
|
NM_020549.5(CHAT):c.1227C>T (p.His409=)
|
rs578201320
|
0.00002
|
NM_020549.5(CHAT):c.1383-4G>A
|
rs779952434
|
0.00002
|
NM_020549.5(CHAT):c.1386G>A (p.Thr462=)
|
rs770792319
|
0.00002
|
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln)
|
rs771901229
|
0.00002
|
NM_020549.5(CHAT):c.1492T>C (p.Ser498Pro)
|
rs1409506586
|
0.00002
|
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)
|
rs968331105
|
0.00002
|
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys)
|
rs778572568
|
0.00002
|
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val)
|
rs190968891
|
0.00002
|
NM_020549.5(CHAT):c.1840-9A>G
|
rs1279554995
|
0.00002
|
NM_020549.5(CHAT):c.18G>A (p.Ala6=)
|
rs1348352777
|
0.00002
|
NM_020549.5(CHAT):c.1992G>A (p.Thr664=)
|
rs767717703
|
0.00002
|
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys)
|
rs751461280
|
0.00002
|
NM_020549.5(CHAT):c.230A>G (p.His77Arg)
|
rs1158850299
|
0.00002
|
NM_020549.5(CHAT):c.258G>C (p.Ser86=)
|
rs778636468
|
0.00002
|
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser)
|
rs1429339523
|
0.00002
|
NM_020549.5(CHAT):c.350G>A (p.Arg117His)
|
rs376641216
|
0.00002
|
NM_020549.5(CHAT):c.387T>C (p.Ser129=)
|
rs143723043
|
0.00002
|
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser)
|
rs1323843750
|
0.00002
|
NM_020549.5(CHAT):c.492C>T (p.Ala164=)
|
rs746798016
|
0.00002
|
NM_020549.5(CHAT):c.707C>T (p.Ala236Val)
|
rs770250348
|
0.00002
|
NM_020549.5(CHAT):c.864C>T (p.Asp288=)
|
rs766217426
|
0.00002
|
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr)
|
rs1373162548
|
0.00002
|
NM_020549.5(CHAT):c.897G>A (p.Pro299=)
|
rs756942813
|
0.00002
|
NM_020549.5(CHAT):c.92T>G (p.Val31Gly)
|
rs1016283273
|
0.00002
|
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)
|
rs1464103196
|
0.00002
|
NM_021815.5(SLC5A7):c.1113+6A>G
|
rs766515861
|
0.00002
|
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile)
|
rs763020957
|
0.00002
|
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile)
|
rs759833850
|
0.00002
|
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys)
|
rs1001889637
|
0.00002
|
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe)
|
rs780371731
|
0.00002
|
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=)
|
rs766941461
|
0.00002
|
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=)
|
rs146871193
|
0.00002
|
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn)
|
rs768776054
|
0.00002
|
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile)
|
rs541031936
|
0.00002
|
NM_021815.5(SLC5A7):c.597+7G>A
|
rs377267197
|
0.00002
|
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)
|
rs138258236
|
0.00002
|
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)
|
rs763754023
|
0.00002
|
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=)
|
rs372356780
|
0.00002
|
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)
|
rs777441526
|
0.00002
|
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)
|
rs776974668
|
0.00002
|
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)
|
rs376627887
|
0.00002
|
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)
|
rs774204697
|
0.00002
|
NM_033087.4(ALG2):c.426G>C (p.Leu142=)
|
rs778882264
|
0.00002
|
NM_033087.4(ALG2):c.462A>G (p.Leu154=)
|
rs746100517
|
0.00002
|
NM_033087.4(ALG2):c.484A>G (p.Ile162Val)
|
rs529195050
|
0.00002
|
NM_033087.4(ALG2):c.6G>A (p.Ala2=)
|
rs766287162
|
0.00002
|
NM_033087.4(ALG2):c.752G>A (p.Arg251His)
|
rs201729325
|
0.00002
|
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
|
rs1229029511
|
0.00002
|
NM_033087.4(ALG2):c.93G>C (p.Arg31=)
|
rs1012959999
|
0.00002
|
NM_130811.4(SNAP25):c.282-17C>T
|
rs778696808
|
0.00002
|
NM_130811.4(SNAP25):c.296A>T (p.Asp99Val)
|
rs745741842
|
0.00002
|
NM_130811.4(SNAP25):c.356G>A (p.Arg119His)
|
rs774645750
|
0.00002
|
NM_130811.4(SNAP25):c.407+18T>C
|
rs186894193
|
0.00002
|
NM_130811.4(SNAP25):c.408-3C>T
|
rs1385382718
|
0.00002
|
NM_130811.4(SNAP25):c.73-5C>T
|
rs776269607
|
0.00002
|
NM_144988.4(ALG14):c.16G>A (p.Val6Ile)
|
rs756921157
|
0.00002
|
NM_144988.4(ALG14):c.476T>C (p.Leu159Pro)
|
rs746850097
|
0.00002
|
NM_144988.4(ALG14):c.560T>C (p.Ile187Thr)
|
rs775514355
|
0.00002
|
NM_144988.4(ALG14):c.641G>A (p.Arg214Gln)
|
rs767036165
|
0.00002
|
NM_173660.5(DOK7):c.101-16G>A
|
rs755933024
|
0.00002
|
NM_173660.5(DOK7):c.1059G>A (p.Ser353=)
|
rs781086422
|
0.00002
|
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu)
|
rs1418197383
|
0.00002
|
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys)
|
rs751691265
|
0.00002
|
NM_173660.5(DOK7):c.1197C>T (p.Thr399=)
|
rs756540534
|
0.00002
|
NM_173660.5(DOK7):c.1226G>A (p.Arg409His)
|
rs377528603
|
0.00002
|
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg)
|
rs142510199
|
0.00002
|
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val)
|
rs745414274
|
0.00002
|
NM_173660.5(DOK7):c.1314G>A (p.Thr438=)
|
rs371276345
|
0.00002
|
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys)
|
rs1359635065
|
0.00002
|
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp)
|
rs915179362
|
0.00002
|
NM_173660.5(DOK7):c.1458G>A (p.Pro486=)
|
rs763843300
|
0.00002
|
NM_173660.5(DOK7):c.1506C>T (p.Pro502=)
|
rs753827494
|
0.00002
|
NM_173660.5(DOK7):c.321G>A (p.Ala107=)
|
rs769702844
|
0.00002
|
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp)
|
rs1319317420
|
0.00002
|
NM_173660.5(DOK7):c.453G>A (p.Gln151=)
|
rs764598148
|
0.00002
|
NM_173660.5(DOK7):c.54+31_54+32insT
|
rs1245236150
|
0.00002
|
NM_173660.5(DOK7):c.55-10G>A
|
rs886043943
|
0.00002
|
NM_173660.5(DOK7):c.55-19C>T
|
rs1316334613
|
0.00002
|
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu)
|
rs772577244
|
0.00002
|
NM_173660.5(DOK7):c.623G>T (p.Gly208Val)
|
rs572714394
|
0.00002
|
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys)
|
rs756962738
|
0.00002
|
NM_173660.5(DOK7):c.689G>A (p.Arg230His)
|
rs760941977
|
0.00002
|
NM_173660.5(DOK7):c.773-2_773-1del
|
rs770163440
|
0.00002
|
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr)
|
rs139429423
|
0.00002
|
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu)
|
rs1478257270
|
0.00002
|
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg)
|
rs747816956
|
0.00002
|
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser)
|
rs1425852835
|
0.00002
|
NM_198576.4(AGRN):c.1223G>A (p.Arg408His)
|
rs764063704
|
0.00002
|
NM_198576.4(AGRN):c.1248C>T (p.Cys416=)
|
rs372623851
|
0.00002
|
NM_198576.4(AGRN):c.1282G>A (p.Val428Met)
|
rs566439735
|
0.00002
|
NM_198576.4(AGRN):c.1290C>T (p.Ala430=)
|
rs754211714
|
0.00002
|
NM_198576.4(AGRN):c.1519G>A (p.Val507Ile)
|
rs753019974
|
0.00002
|
NM_198576.4(AGRN):c.1534G>A (p.Ala512Thr)
|
rs780205618
|
0.00002
|
NM_198576.4(AGRN):c.1535C>T (p.Ala512Val)
|
rs375076629
|
0.00002
|
NM_198576.4(AGRN):c.1587G>A (p.Ala529=)
|
rs200506573
|
0.00002
|
NM_198576.4(AGRN):c.1607G>A (p.Arg536His)
|
rs369083997
|
0.00002
|
NM_198576.4(AGRN):c.1611C>T (p.Cys537=)
|
rs373004225
|
0.00002
|
NM_198576.4(AGRN):c.1696G>A (p.Val566Met)
|
rs754169694
|
0.00002
|
NM_198576.4(AGRN):c.1718C>T (p.Thr573Met)
|
rs757402635
|
0.00002
|
NM_198576.4(AGRN):c.1769G>A (p.Ser590Asn)
|
rs199963653
|
0.00002
|
NM_198576.4(AGRN):c.1776C>T (p.His592=)
|
rs763322910
|
0.00002
|
NM_198576.4(AGRN):c.1842C>T (p.Ser614=)
|
rs774748438
|
0.00002
|
NM_198576.4(AGRN):c.1847G>A (p.Gly616Glu)
|
rs773393723
|
0.00002
|
NM_198576.4(AGRN):c.1880C>T (p.Pro627Leu)
|
rs749918192
|
0.00002
|
NM_198576.4(AGRN):c.1881G>A (p.Pro627=)
|
rs755828129
|
0.00002
|
NM_198576.4(AGRN):c.1902C>T (p.Ser634=)
|
rs549820648
|
0.00002
|
NM_198576.4(AGRN):c.1930G>A (p.Glu644Lys)
|
rs767435056
|
0.00002
|
NM_198576.4(AGRN):c.1995G>T (p.Glu665Asp)
|
rs752339788
|
0.00002
|
NM_198576.4(AGRN):c.2055G>C (p.Glu685Asp)
|
rs954560285
|
0.00002
|
NM_198576.4(AGRN):c.2094G>A (p.Ser698=)
|
rs200653840
|
0.00002
|
NM_198576.4(AGRN):c.2101G>A (p.Gly701Arg)
|
rs147195498
|
0.00002
|
NM_198576.4(AGRN):c.2147C>T (p.Pro716Leu)
|
rs535766401
|
0.00002
|
NM_198576.4(AGRN):c.2166G>T (p.Gly722=)
|
rs751857392
|
0.00002
|
NM_198576.4(AGRN):c.2230G>A (p.Val744Ile)
|
rs774546870
|
0.00002
|
NM_198576.4(AGRN):c.2314G>A (p.Gly772Ser)
|
rs1038647532
|
0.00002
|
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr)
|
rs540467706
|
0.00002
|
NM_198576.4(AGRN):c.2350G>A (p.Val784Met)
|
rs139778596
|
0.00002
|
NM_198576.4(AGRN):c.2366G>A (p.Cys789Tyr)
|
rs760257579
|
0.00002
|
NM_198576.4(AGRN):c.2371+13G>A
|
rs751961924
|
0.00002
|
NM_198576.4(AGRN):c.2404G>A (p.Gly802Ser)
|
rs762481817
|
0.00002
|
NM_198576.4(AGRN):c.2664C>T (p.Pro888=)
|
rs763648358
|
0.00002
|
NM_198576.4(AGRN):c.2696C>T (p.Ala899Val)
|
rs201460027
|
0.00002
|
NM_198576.4(AGRN):c.2732G>A (p.Arg911Gln)
|
rs773144997
|
0.00002
|
NM_198576.4(AGRN):c.2805+9T>C
|
rs760075991
|
0.00002
|
NM_198576.4(AGRN):c.285C>T (p.Ser95=)
|
rs185077738
|
0.00002
|
NM_198576.4(AGRN):c.2994G>A (p.Pro998=)
|
rs770603390
|
0.00002
|
NM_198576.4(AGRN):c.3056C>T (p.Pro1019Leu)
|
rs756489447
|
0.00002
|
NM_198576.4(AGRN):c.3060C>G (p.Pro1020=)
|
rs755135294
|
0.00002
|
NM_198576.4(AGRN):c.3068G>A (p.Arg1023Gln)
|
rs775442981
|
0.00002
|
NM_198576.4(AGRN):c.3121G>A (p.Val1041Met)
|
rs779698930
|
0.00002
|
NM_198576.4(AGRN):c.3156G>A (p.Leu1052=)
|
rs1295512582
|
0.00002
|
NM_198576.4(AGRN):c.3408C>T (p.Gly1136=)
|
rs754629991
|
0.00002
|
NM_198576.4(AGRN):c.3409G>A (p.Val1137Ile)
|
rs778480770
|
0.00002
|
NM_198576.4(AGRN):c.3460A>G (p.Met1154Val)
|
rs371617418
|
0.00002
|
NM_198576.4(AGRN):c.3522C>T (p.Asp1174=)
|
rs374008359
|
0.00002
|
NM_198576.4(AGRN):c.3655G>A (p.Val1219Met)
|
rs770304448
|
0.00002
|
NM_198576.4(AGRN):c.3670C>T (p.Leu1224Phe)
|
rs753681540
|
0.00002
|
NM_198576.4(AGRN):c.3694C>T (p.Arg1232Cys)
|
rs777331097
|
0.00002
|
NM_198576.4(AGRN):c.3715C>T (p.Arg1239Trp)
|
rs571142975
|
0.00002
|
NM_198576.4(AGRN):c.3723G>A (p.Leu1241=)
|
rs981386078
|
0.00002
|
NM_198576.4(AGRN):c.3731A>G (p.His1244Arg)
|
rs759452317
|
0.00002
|
NM_198576.4(AGRN):c.3973_3979dup (p.Gln1327fs)
|
rs1645159594
|
0.00002
|
NM_198576.4(AGRN):c.4020C>T (p.His1340=)
|
rs1427781010
|
0.00002
|
NM_198576.4(AGRN):c.4026G>A (p.Gly1342=)
|
rs767942031
|
0.00002
|
NM_198576.4(AGRN):c.4202G>A (p.Arg1401Gln)
|
rs777248655
|
0.00002
|
NM_198576.4(AGRN):c.4213C>T (p.Pro1405Ser)
|
rs777176463
|
0.00002
|
NM_198576.4(AGRN):c.4313C>T (p.Ser1438Leu)
|
rs1460707518
|
0.00002
|
NM_198576.4(AGRN):c.4320G>A (p.Pro1440=)
|
rs767200294
|
0.00002
|
NM_198576.4(AGRN):c.4554G>A (p.Gly1518=)
|
rs751402344
|
0.00002
|
NM_198576.4(AGRN):c.4683G>A (p.Gly1561=)
|
rs760507388
|
0.00002
|
NM_198576.4(AGRN):c.471C>T (p.Pro157=)
|
rs148157593
|
0.00002
|
NM_198576.4(AGRN):c.4744+14C>T
|
rs374346187
|
0.00002
|
NM_198576.4(AGRN):c.4802C>T (p.Ala1601Val)
|
rs749035094
|
0.00002
|
NM_198576.4(AGRN):c.4811G>A (p.Arg1604His)
|
rs772811721
|
0.00002
|
NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu)
|
rs748076659
|
0.00002
|
NM_198576.4(AGRN):c.4879+9C>T
|
rs373653720
|
0.00002
|
NM_198576.4(AGRN):c.4894G>A (p.Gly1632Ser)
|
rs774044262
|
0.00002
|
NM_198576.4(AGRN):c.4911G>A (p.Leu1637=)
|
rs185377620
|
0.00002
|
NM_198576.4(AGRN):c.4914T>C (p.Ala1638=)
|
rs760329841
|
0.00002
|
NM_198576.4(AGRN):c.5012G>A (p.Arg1671Gln)
|
rs769667244
|
0.00002
|
NM_198576.4(AGRN):c.503C>T (p.Pro168Leu)
|
rs774527175
|
0.00002
|
NM_198576.4(AGRN):c.5040C>T (p.Asn1680=)
|
rs368498050
|
0.00002
|
NM_198576.4(AGRN):c.5096G>A (p.Arg1699His)
|
rs777269140
|
0.00002
|
NM_198576.4(AGRN):c.5106C>T (p.Phe1702=)
|
rs563420866
|
0.00002
|
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn)
|
rs563299889
|
0.00002
|
NM_198576.4(AGRN):c.512-6C>T
|
rs988351859
|
0.00002
|
NM_198576.4(AGRN):c.5133G>A (p.Ala1711=)
|
rs376535149
|
0.00002
|
NM_198576.4(AGRN):c.5152C>A (p.Pro1718Thr)
|
rs375621931
|
0.00002
|
NM_198576.4(AGRN):c.5196C>T (p.Asn1732=)
|
rs1264457871
|
0.00002
|
NM_198576.4(AGRN):c.5226C>T (p.Asp1742=)
|
rs759448658
|
0.00002
|
NM_198576.4(AGRN):c.5259G>A (p.Pro1753=)
|
rs771715098
|
0.00002
|
NM_198576.4(AGRN):c.5261A>C (p.His1754Pro)
|
rs1023027486
|
0.00002
|
NM_198576.4(AGRN):c.5285C>T (p.Pro1762Leu)
|
rs764764048
|
0.00002
|
NM_198576.4(AGRN):c.5339T>C (p.Val1780Ala)
|
rs369070635
|
0.00002
|
NM_198576.4(AGRN):c.5387G>A (p.Arg1796His)
|
rs774881136
|
0.00002
|
NM_198576.4(AGRN):c.5422G>A (p.Val1808Met)
|
rs1356478300
|
0.00002
|
NM_198576.4(AGRN):c.5427C>T (p.Asp1809=)
|
rs963530349
|
0.00002
|
NM_198576.4(AGRN):c.5428G>A (p.Val1810Ile)
|
rs375518121
|
0.00002
|
NM_198576.4(AGRN):c.5459G>A (p.Arg1820Gln)
|
rs1170138989
|
0.00002
|
NM_198576.4(AGRN):c.5465C>T (p.Ser1822Leu)
|
rs150946585
|
0.00002
|
NM_198576.4(AGRN):c.5549C>T (p.Pro1850Leu)
|
rs374138541
|
0.00002
|
NM_198576.4(AGRN):c.554C>G (p.Pro185Arg)
|
rs1439165940
|
0.00002
|
NM_198576.4(AGRN):c.5556C>T (p.Cys1852=)
|
rs538293035
|
0.00002
|
NM_198576.4(AGRN):c.5590G>A (p.Val1864Met)
|
rs774612575
|
0.00002
|
NM_198576.4(AGRN):c.5653G>A (p.Glu1885Lys)
|
rs374127077
|
0.00002
|
NM_198576.4(AGRN):c.5739G>A (p.Thr1913=)
|
rs557497898
|
0.00002
|
NM_198576.4(AGRN):c.574C>T (p.Arg192Trp)
|
rs1056434535
|
0.00002
|
NM_198576.4(AGRN):c.5787A>G (p.Gln1929=)
|
rs372147500
|
0.00002
|
NM_198576.4(AGRN):c.5852G>A (p.Arg1951His)
|
rs141914965
|
0.00002
|
NM_198576.4(AGRN):c.5936C>T (p.Pro1979Leu)
|
rs750764002
|
0.00002
|
NM_198576.4(AGRN):c.5988_6008dup (p.Pro1997_Pro2003dup)
|
rs747557413
|
0.00002
|
NM_198576.4(AGRN):c.5989C>T (p.Pro1997Ser)
|
rs748233230
|
0.00002
|
NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn)
|
rs755342940
|
0.00002
|
NM_198576.4(AGRN):c.689A>G (p.Gln230Arg)
|
rs767155884
|
0.00002
|
NM_198576.4(AGRN):c.836C>T (p.Ala279Val)
|
rs747952589
|
0.00002
|
NM_198576.4(AGRN):c.910G>A (p.Ala304Thr)
|
rs764915525
|
0.00002
|
NM_198576.4(AGRN):c.942C>T (p.Asp314=)
|
rs1257343645
|
0.00002
|
NM_198576.4(AGRN):c.955C>T (p.Pro319Ser)
|
rs1445446461
|
0.00002
|
NM_198576.4(AGRN):c.95C>T (p.Pro32Leu)
|
rs1194105483
|
0.00002
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=)
|
rs747880376
|
0.00001
|
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala)
|
rs1216965153
|
0.00001
|
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=)
|
rs1247241612
|
0.00001
|
NM_000080.4(CHRNE):c.1008C>T (p.His336=)
|
rs768479748
|
0.00001
|
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=)
|
rs778130828
|
0.00001
|
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys)
|
rs1422523453
|
0.00001
|
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp)
|
rs886053125
|
0.00001
|
NM_000080.4(CHRNE):c.1032+8C>T
|
rs755463469
|
0.00001
|
NM_000080.4(CHRNE):c.1032+9G>A
|
rs752020505
|
0.00001
|
NM_000080.4(CHRNE):c.1033-1G>C
|
rs755303686
|
0.00001
|
NM_000080.4(CHRNE):c.1033-2A>T
|
rs786204773
|
0.00001
|
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)
|
rs1168592296
|
0.00001
|
NM_000080.4(CHRNE):c.1053G>A (p.Pro351=)
|
rs1290320477
|
0.00001
|
NM_000080.4(CHRNE):c.1059C>T (p.Leu353=)
|
rs1292243112
|
0.00001
|
NM_000080.4(CHRNE):c.1065C>T (p.Gly355=)
|
rs775638720
|
0.00001
|
NM_000080.4(CHRNE):c.1066T>C (p.Ser356Pro)
|
rs954120463
|
0.00001
|
NM_000080.4(CHRNE):c.1068C>T (p.Ser356=)
|
rs986495754
|
0.00001
|
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=)
|
rs907495464
|
0.00001
|
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser)
|
rs998988224
|
0.00001
|
NM_000080.4(CHRNE):c.1080C>G (p.Pro360=)
|
rs886042727
|
0.00001
|
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr)
|
rs780327519
|
0.00001
|
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=)
|
rs778313885
|
0.00001
|
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=)
|
rs1047142793
|
0.00001
|
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=)
|
rs1449525013
|
0.00001
|
NM_000080.4(CHRNE):c.1141G>A (p.Ala381Thr)
|
rs547989166
|
0.00001
|
NM_000080.4(CHRNE):c.1143G>A (p.Ala381=)
|
rs942583372
|
0.00001
|
NM_000080.4(CHRNE):c.1152G>T (p.Leu384=)
|
rs777363943
|
0.00001
|
NM_000080.4(CHRNE):c.1156C>T (p.Leu386=)
|
rs752358041
|
0.00001
|
NM_000080.4(CHRNE):c.1164del (p.Lys388fs)
|
rs1222065184
|
0.00001
|
NM_000080.4(CHRNE):c.1170G>C (p.Arg390=)
|
rs955030428
|
0.00001
|
NM_000080.4(CHRNE):c.1197G>A (p.Arg399=)
|
rs867064180
|
0.00001
|
NM_000080.4(CHRNE):c.1219+9A>G
|
rs559923437
|
0.00001
|
NM_000080.4(CHRNE):c.1220-1G>A
|
rs373710822
|
0.00001
|
NM_000080.4(CHRNE):c.1220-4C>T
|
rs201553105
|
0.00001
|
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=)
|
rs1420851295
|
0.00001
|
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys)
|
rs754975887
|
0.00001
|
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys)
|
rs369709668
|
0.00001
|
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met)
|
rs780122731
|
0.00001
|
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=)
|
rs750634265
|
0.00001
|
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=)
|
rs1349711476
|
0.00001
|
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met)
|
rs1348466102
|
0.00001
|
NM_000080.4(CHRNE):c.1290G>A (p.Val430=)
|
rs1416247967
|
0.00001
|
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=)
|
rs773970037
|
0.00001
|
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=)
|
rs1486674648
|
0.00001
|
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=)
|
rs1292101958
|
0.00001
|
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=)
|
rs758517310
|
0.00001
|
NM_000080.4(CHRNE):c.1326+9G>A
|
rs1171676082
|
0.00001
|
NM_000080.4(CHRNE):c.1327-20C>T
|
rs1312286883
|
0.00001
|
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=)
|
rs1412855797
|
0.00001
|
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=)
|
rs1374818797
|
0.00001
|
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr)
|
rs1361578187
|
0.00001
|
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=)
|
rs1486567580
|
0.00001
|
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=)
|
rs1207444316
|
0.00001
|
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His)
|
rs764935677
|
0.00001
|
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)
|
rs545473686
|
0.00001
|
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe)
|
rs1085307690
|
0.00001
|
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=)
|
rs373293781
|
0.00001
|
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val)
|
rs753512613
|
0.00001
|
NM_000080.4(CHRNE):c.180C>T (p.Leu60=)
|
rs1486738510
|
0.00001
|
NM_000080.4(CHRNE):c.183C>T (p.Ile61=)
|
rs761677000
|
0.00001
|
NM_000080.4(CHRNE):c.195A>G (p.Glu65=)
|
rs1334272633
|
0.00001
|
NM_000080.4(CHRNE):c.204G>A (p.Glu68=)
|
rs1970025417
|
0.00001
|
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg)
|
rs1344336890
|
0.00001
|
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro)
|
rs772495418
|
0.00001
|
NM_000080.4(CHRNE):c.312C>T (p.Leu104=)
|
rs1341141356
|
0.00001
|
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys)
|
rs1388515362
|
0.00001
|
NM_000080.4(CHRNE):c.357G>A (p.Gln119=)
|
rs747638974
|
0.00001
|
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser)
|
rs771356927
|
0.00001
|
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val)
|
rs746582621
|
0.00001
|
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=)
|
rs894382905
|
0.00001
|
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn)
|
rs1056080125
|
0.00001
|
NM_000080.4(CHRNE):c.39G>T (p.Gly13=)
|
rs1247743244
|
0.00001
|
NM_000080.4(CHRNE):c.405C>T (p.Ser135=)
|
rs1174619470
|
0.00001
|
NM_000080.4(CHRNE):c.420T>C (p.Pro140=)
|
rs886038226
|
0.00001
|
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu)
|
rs121909512
|
0.00001
|
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr)
|
rs1484300953
|
0.00001
|
NM_000080.4(CHRNE):c.435C>T (p.Arg145=)
|
rs1194731229
|
0.00001
|
NM_000080.4(CHRNE):c.441C>A (p.Val147=)
|
rs779058823
|
0.00001
|
NM_000080.4(CHRNE):c.46+4_46+8del
|
rs1388295687
|
0.00001
|
NM_000080.4(CHRNE):c.468C>T (p.Pro156=)
|
rs751830305
|
0.00001
|
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser)
|
rs764552360
|
0.00001
|
NM_000080.4(CHRNE):c.474T>C (p.Asp158=)
|
rs150868720
|
0.00001
|
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu)
|
rs121909514
|
0.00001
|
NM_000080.4(CHRNE):c.516T>C (p.Asn172=)
|
rs143410438
|
0.00001
|
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys)
|
rs1597620368
|
0.00001
|
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs)
|
rs758687208
|
0.00001
|
NM_000080.4(CHRNE):c.534C>T (p.Phe178=)
|
rs1246145838
|
0.00001
|
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu)
|
rs1198430909
|
0.00001
|
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe)
|
rs1020146692
|
0.00001
|
NM_000080.4(CHRNE):c.585C>T (p.Asp195=)
|
rs954677814
|
0.00001
|
NM_000080.4(CHRNE):c.588A>C (p.Thr196=)
|
rs763114306
|
0.00001
|
NM_000080.4(CHRNE):c.591G>A (p.Glu197=)
|
rs1969984066
|
0.00001
|
NM_000080.4(CHRNE):c.637G>A (p.Val213Met)
|
rs1174721586
|
0.00001
|
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys)
|
rs577641512
|
0.00001
|
NM_000080.4(CHRNE):c.647G>A (p.Arg216His)
|
rs1359029030
|
0.00001
|
NM_000080.4(CHRNE):c.654C>G (p.His218Gln)
|
rs751388919
|
0.00001
|
NM_000080.4(CHRNE):c.669C>T (p.Asp223=)
|
rs1463132688
|
0.00001
|
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val)
|
rs1226552673
|
0.00001
|
NM_000080.4(CHRNE):c.702C>G (p.Leu234=)
|
rs1344473749
|
0.00001
|
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu)
|
rs145522662
|
0.00001
|
NM_000080.4(CHRNE):c.723C>T (p.Leu241=)
|
rs886053126
|
0.00001
|
NM_000080.4(CHRNE):c.73C>T (p.Leu25=)
|
rs1970032941
|
0.00001
|
NM_000080.4(CHRNE):c.744C>T (p.Ile248=)
|
rs1288770447
|
0.00001
|
NM_000080.4(CHRNE):c.745G>A (p.Val249Met)
|
rs757421529
|
0.00001
|
NM_000080.4(CHRNE):c.762C>T (p.Ile254=)
|
rs752926340
|
0.00001
|
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys)
|
rs773131873
|
0.00001
|
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg)
|
rs759226183
|
0.00001
|
NM_000080.4(CHRNE):c.795G>A (p.Pro265=)
|
rs1567638559
|
0.00001
|
NM_000080.4(CHRNE):c.831C>T (p.Ile277=)
|
rs755170993
|
0.00001
|
NM_000080.4(CHRNE):c.846C>G (p.Ala282=)
|
rs780429979
|
0.00001
|
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter)
|
rs748103983
|
0.00001
|
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val)
|
rs756844933
|
0.00001
|
NM_000080.4(CHRNE):c.859T>C (p.Leu287=)
|
rs1969957668
|
0.00001
|
NM_000080.4(CHRNE):c.867C>G (p.Leu289=)
|
rs763590279
|
0.00001
|
NM_000080.4(CHRNE):c.873C>A (p.Ala291=)
|
rs1326940305
|
0.00001
|
NM_000080.4(CHRNE):c.900C>T (p.Ser300=)
|
rs747224472
|
0.00001
|
NM_000080.4(CHRNE):c.945C>T (p.Ala315=)
|
rs758560981
|
0.00001
|
NM_000080.4(CHRNE):c.972C>T (p.Ile324=)
|
rs1405865454
|
0.00001
|
NM_000080.4(CHRNE):c.981C>T (p.Asn327=)
|
rs958190024
|
0.00001
|
NM_000747.3(CHRNB1):c.1004G>A (p.Arg335His)
|
rs746417364
|
0.00001
|
NM_000747.3(CHRNB1):c.1033T>G (p.Trp345Gly)
|
rs1909002019
|
0.00001
|
NM_000747.3(CHRNB1):c.1040G>A (p.Arg347His)
|
rs371142002
|
0.00001
|
NM_000747.3(CHRNB1):c.1139G>C (p.Gly380Ala)
|
rs1377352531
|
0.00001
|
NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly)
|
rs2069939028
|
0.00001
|
NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser)
|
rs1199729169
|
0.00001
|
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly)
|
rs754895386
|
0.00001
|
NM_000747.3(CHRNB1):c.1418G>A (p.Trp473Ter)
|
rs772731018
|
0.00001
|
NM_000747.3(CHRNB1):c.1441G>T (p.Val481Phe)
|
rs1205517699
|
0.00001
|
NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile)
|
rs369847025
|
0.00001
|
NM_000747.3(CHRNB1):c.1467C>T (p.Asp489=)
|
rs1362533670
|
0.00001
|
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys)
|
rs750490746
|
0.00001
|
NM_000747.3(CHRNB1):c.183G>T (p.Ala61=)
|
rs775849224
|
0.00001
|
NM_000747.3(CHRNB1):c.198+10C>G
|
rs912711009
|
0.00001
|
NM_000747.3(CHRNB1):c.199-9C>T
|
rs572576481
|
0.00001
|
NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile)
|
rs752436749
|
0.00001
|
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser)
|
rs142801700
|
0.00001
|
NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu)
|
rs373533921
|
0.00001
|
NM_000747.3(CHRNB1):c.302T>C (p.Leu101Pro)
|
rs1028687450
|
0.00001
|
NM_000747.3(CHRNB1):c.303C>T (p.Leu101=)
|
rs748183383
|
0.00001
|
NM_000747.3(CHRNB1):c.343C>G (p.Leu115Val)
|
rs757084012
|
0.00001
|
NM_000747.3(CHRNB1):c.373G>A (p.Val125Met)
|
rs148584502
|
0.00001
|
NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)
|
rs770359368
|
0.00001
|
NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val)
|
rs75926342
|
0.00001
|
NM_000747.3(CHRNB1):c.462+7G>A
|
rs747388705
|
0.00001
|
NM_000747.3(CHRNB1):c.472T>C (p.Phe158Leu)
|
rs961261483
|
0.00001
|
NM_000747.3(CHRNB1):c.51C>T (p.Leu17=)
|
rs1351230064
|
0.00001
|
NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu)
|
rs760659917
|
0.00001
|
NM_000747.3(CHRNB1):c.532G>C (p.Glu178Gln)
|
rs1475474681
|
0.00001
|
NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln)
|
rs759176796
|
0.00001
|
NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile)
|
rs567015720
|
0.00001
|
NM_000747.3(CHRNB1):c.646C>T (p.Arg216Trp)
|
rs780988754
|
0.00001
|
NM_000747.3(CHRNB1):c.673A>C (p.Arg225=)
|
rs757402627
|
0.00001
|
NM_000747.3(CHRNB1):c.681G>A (p.Gly227=)
|
rs201333755
|
0.00001
|
NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu)
|
rs1908763989
|
0.00001
|
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys)
|
rs200962487
|
0.00001
|
NM_000747.3(CHRNB1):c.756C>T (p.Val252=)
|
rs754596731
|
0.00001
|
NM_000747.3(CHRNB1):c.795C>T (p.Phe265=)
|
rs777819302
|
0.00001
|
NM_000747.3(CHRNB1):c.821-4C>A
|
rs764035317
|
0.00001
|
NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro)
|
rs767799511
|
0.00001
|
NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln)
|
rs945086307
|
0.00001
|
NM_000747.3(CHRNB1):c.938T>C (p.Met313Thr)
|
rs375505960
|
0.00001
|
NM_000747.3(CHRNB1):c.983T>C (p.Val328Ala)
|
rs1247175818
|
0.00001
|
NM_001145536.2(C17orf107):c.*1801G>T
|
rs374325420
|
0.00001
|
NM_001145536.2(C17orf107):c.*2240G>A
|
rs761183088
|
0.00001
|
NM_001145536.2(C17orf107):c.*251C>A
|
rs754325287
|
0.00001
|
NM_001145536.2(C17orf107):c.*252G>T
|
rs1337368697
|
0.00001
|
NM_001145536.2(C17orf107):c.*380G>A
|
rs961218388
|
0.00001
|
NM_001145536.2(C17orf107):c.*381G>A
|
rs1314331863
|
0.00001
|
NM_001145536.2(C17orf107):c.*382G>A
|
rs760314762
|
0.00001
|
NM_001145536.2(C17orf107):c.*666C>T
|
rs1382185555
|
0.00001
|
NM_001145536.2(C17orf107):c.-164G>C
|
rs771664527
|
0.00001
|
NM_001171613.2(PREPL):c.-15C>A
|
rs747135582
|
0.00001
|
NM_001171613.2(PREPL):c.-22C>T
|
rs148810409
|
0.00001
|
NM_001171613.2(PREPL):c.-28A>G
|
rs924063417
|
0.00001
|
NM_001171613.2(PREPL):c.-42del
|
rs749853265
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1674A>G
|
rs1677455092
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1678C>G
|
rs1217582584
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1707A>G
|
rs767151252
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1734C>T
|
rs374594354
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1744A>G
|
rs753994518
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1814G>A
|
rs963472046
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1839T>C
|
rs375878651
|
0.00001
|
NM_001171613.2(PREPL):c.-49+1857A>G
|
rs1677431287
|
0.00001
|
NM_001171613.2(PREPL):c.1000G>T (p.Ala334Ser)
|
rs778521381
|
0.00001
|
NM_001171613.2(PREPL):c.1055G>C (p.Ser352Thr)
|
rs182129466
|
0.00001
|
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His)
|
rs766402014
|
0.00001
|
NM_001171613.2(PREPL):c.1069C>G (p.Leu357Val)
|
rs1357123285
|
0.00001
|
NM_001171613.2(PREPL):c.1086+11T>C
|
rs747536626
|
0.00001
|
NM_001171613.2(PREPL):c.1086+4G>A
|
rs781546038
|
0.00001
|
NM_001171613.2(PREPL):c.1087-9C>G
|
rs755166149
|
0.00001
|
NM_001171613.2(PREPL):c.1184T>C (p.Met395Thr)
|
rs763916560
|
0.00001
|
NM_001171613.2(PREPL):c.1185G>A (p.Met395Ile)
|
rs762704106
|
0.00001
|
NM_001171613.2(PREPL):c.1216C>T (p.Arg406Trp)
|
rs762344284
|
0.00001
|
NM_001171613.2(PREPL):c.1225G>T (p.Val409Leu)
|
rs1287814553
|
0.00001
|
NM_001171613.2(PREPL):c.1227G>A (p.Val409=)
|
rs770075037
|
0.00001
|
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=)
|
rs948010275
|
0.00001
|
NM_001171613.2(PREPL):c.124C>T (p.Arg42Cys)
|
rs367690689
|
0.00001
|
NM_001171613.2(PREPL):c.1256A>G (p.His419Arg)
|
rs1470203044
|
0.00001
|
NM_001171613.2(PREPL):c.1262+18A>G
|
rs1423411588
|
0.00001
|
NM_001171613.2(PREPL):c.1262+1G>A
|
rs1172015222
|
0.00001
|
NM_001171613.2(PREPL):c.1262G>A (p.Arg421Gln)
|
rs754572953
|
0.00001
|
NM_001171613.2(PREPL):c.1263-12C>T
|
rs1275787716
|
0.00001
|
NM_001171613.2(PREPL):c.1263-1G>C
|
rs1316112168
|
0.00001
|
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=)
|
rs755648962
|
0.00001
|
NM_001171613.2(PREPL):c.1300G>A (p.Gly434Ser)
|
rs1240292748
|
0.00001
|
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=)
|
rs944899015
|
0.00001
|
NM_001171613.2(PREPL):c.1368A>C (p.Gln456His)
|
rs760125213
|
0.00001
|
NM_001171613.2(PREPL):c.1396C>G (p.Leu466Val)
|
rs772025933
|
0.00001
|
NM_001171613.2(PREPL):c.1406T>G (p.Phe469Cys)
|
rs749238316
|
0.00001
|
NM_001171613.2(PREPL):c.142+17C>G
|
rs762928182
|
0.00001
|
NM_001171613.2(PREPL):c.1546G>A (p.Glu516Lys)
|
rs1367878747
|
0.00001
|
NM_001171613.2(PREPL):c.1558A>C (p.Asn520His)
|
rs371835756
|
0.00001
|
NM_001171613.2(PREPL):c.1591A>G (p.Ile531Val)
|
rs1673166427
|
0.00001
|
NM_001171613.2(PREPL):c.1610A>G (p.Tyr537Cys)
|
rs761490421
|
0.00001
|
NM_001171613.2(PREPL):c.1629+9A>C
|
rs1247136692
|
0.00001
|
NM_001171613.2(PREPL):c.1630-3del
|
rs1406333731
|
0.00001
|
NM_001171613.2(PREPL):c.1631A>T (p.His544Leu)
|
rs768704646
|
0.00001
|
NM_001171613.2(PREPL):c.163G>C (p.Val55Leu)
|
rs1422302131
|
0.00001
|
NM_001171613.2(PREPL):c.1673G>A (p.Arg558Gln)
|
rs140355063
|
0.00001
|
NM_001171613.2(PREPL):c.1685A>T (p.Lys562Ile)
|
rs377760743
|
0.00001
|
NM_001171613.2(PREPL):c.1701T>C (p.Tyr567=)
|
rs1340727501
|
0.00001
|
NM_001171613.2(PREPL):c.1711C>G (p.Leu571Val)
|
rs1282041334
|
0.00001
|
NM_001171613.2(PREPL):c.1713C>G (p.Leu571=)
|
rs749490971
|
0.00001
|
NM_001171613.2(PREPL):c.1748G>A (p.Gly583Asp)
|
rs752333096
|
0.00001
|
NM_001171613.2(PREPL):c.1753+5G>A
|
rs1380245814
|
0.00001
|
NM_001171613.2(PREPL):c.1753+7G>C
|
rs768510947
|
0.00001
|
NM_001171613.2(PREPL):c.1754-20C>T
|
rs1192640537
|
0.00001
|
NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp)
|
rs537911061
|
0.00001
|
NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr)
|
rs748104886
|
0.00001
|
NM_001171613.2(PREPL):c.1827+9T>C
|
rs748870270
|
0.00001
|
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)
|
rs1359281085
|
0.00001
|
NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg)
|
rs1310992094
|
0.00001
|
NM_001171613.2(PREPL):c.217A>G (p.Arg73Gly)
|
rs375731883
|
0.00001
|
NM_001171613.2(PREPL):c.22A>G (p.Arg8Gly)
|
rs137924736
|
0.00001
|
NM_001171613.2(PREPL):c.234A>G (p.Glu78=)
|
rs1572895650
|
0.00001
|
NM_001171613.2(PREPL):c.276A>T (p.Ala92=)
|
rs771393231
|
0.00001
|
NM_001171613.2(PREPL):c.301A>G (p.Ser101Gly)
|
rs779895293
|
0.00001
|
NM_001171613.2(PREPL):c.30A>G (p.Lys10=)
|
rs1442379605
|
0.00001
|
NM_001171613.2(PREPL):c.313G>A (p.Val105Ile)
|
rs763621305
|
0.00001
|
NM_001171613.2(PREPL):c.318G>A (p.Met106Ile)
|
rs1231458004
|
0.00001
|
NM_001171613.2(PREPL):c.350-6T>C
|
rs1386526801
|
0.00001
|
NM_001171613.2(PREPL):c.375A>G (p.Glu125=)
|
rs367827160
|
0.00001
|
NM_001171613.2(PREPL):c.404A>C (p.Asn135Thr)
|
rs1358654485
|
0.00001
|
NM_001171613.2(PREPL):c.419A>T (p.Asp140Val)
|
rs367992937
|
0.00001
|
NM_001171613.2(PREPL):c.422T>G (p.Val141Gly)
|
rs1675330234
|
0.00001
|
NM_001171613.2(PREPL):c.425A>G (p.Tyr142Cys)
|
rs778744293
|
0.00001
|
NM_001171613.2(PREPL):c.451C>T (p.Arg151Cys)
|
rs752120139
|
0.00001
|
NM_001171613.2(PREPL):c.460C>T (p.Arg154Cys)
|
rs146183409
|
0.00001
|
NM_001171613.2(PREPL):c.538A>G (p.Ile180Val)
|
rs1266141014
|
0.00001
|
NM_001171613.2(PREPL):c.592G>A (p.Asp198Asn)
|
rs748610072
|
0.00001
|
NM_001171613.2(PREPL):c.639T>C (p.Tyr213=)
|
rs767656657
|
0.00001
|
NM_001171613.2(PREPL):c.644A>G (p.Glu215Gly)
|
rs757445054
|
0.00001
|
NM_001171613.2(PREPL):c.649A>G (p.Arg217Gly)
|
rs751520171
|
0.00001
|
NM_001171613.2(PREPL):c.664T>C (p.Tyr222His)
|
rs764951966
|
0.00001
|
NM_001171613.2(PREPL):c.67A>G (p.Asn23Asp)
|
rs369131230
|
0.00001
|
NM_001171613.2(PREPL):c.703-4G>A
|
rs185432623
|
0.00001
|
NM_001171613.2(PREPL):c.717G>A (p.Ala239=)
|
rs754793038
|
0.00001
|
NM_001171613.2(PREPL):c.723T>C (p.Asp241=)
|
rs753702774
|
0.00001
|
NM_001171613.2(PREPL):c.75+15G>T
|
rs376068245
|
0.00001
|
NM_001171613.2(PREPL):c.76G>T (p.Val26Phe)
|
rs1241633455
|
0.00001
|
NM_001171613.2(PREPL):c.7G>A (p.Ala3Thr)
|
rs779882139
|
0.00001
|
NM_001171613.2(PREPL):c.814C>G (p.Leu272Val)
|
rs1209850032
|
0.00001
|
NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser)
|
rs1347512792
|
0.00001
|
NM_001171613.2(PREPL):c.852G>A (p.Val284=)
|
rs1319728552
|
0.00001
|
NM_001171613.2(PREPL):c.871T>A (p.Ser291Thr)
|
rs755882009
|
0.00001
|
NM_001171613.2(PREPL):c.961T>C (p.Ser321Pro)
|
rs1367770744
|
0.00001
|
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn)
|
rs1285177343
|
0.00001
|
NM_001244710.2(GFPT1):c.1010-10A>G
|
rs753072061
|
0.00001
|
NM_001244710.2(GFPT1):c.116-6G>A
|
rs762154144
|
0.00001
|
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=)
|
rs1161440351
|
0.00001
|
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu)
|
rs1247230551
|
0.00001
|
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser)
|
rs914867145
|
0.00001
|
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys)
|
rs759081713
|
0.00001
|
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser)
|
rs1438504838
|
0.00001
|
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile)
|
rs1279403583
|
0.00001
|
NM_001244710.2(GFPT1):c.1597+11A>C
|
rs778286888
|
0.00001
|
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala)
|
rs988021644
|
0.00001
|
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr)
|
rs1308915445
|
0.00001
|
NM_001244710.2(GFPT1):c.1845C>T (p.His615=)
|
rs756332941
|
0.00001
|
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=)
|
rs377155851
|
0.00001
|
NM_001244710.2(GFPT1):c.1893+7C>T
|
rs375872036
|
0.00001
|
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg)
|
rs772640415
|
0.00001
|
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)
|
rs368208403
|
0.00001
|
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=)
|
rs765856240
|
0.00001
|
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=)
|
rs766101867
|
0.00001
|
NM_001244710.2(GFPT1):c.2055+3A>G
|
rs937857366
|
0.00001
|
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=)
|
rs754236476
|
0.00001
|
NM_001244710.2(GFPT1):c.223+19T>C
|
rs532780798
|
0.00001
|
NM_001244710.2(GFPT1):c.224-9A>G
|
rs1207347337
|
0.00001
|
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly)
|
rs192925673
|
0.00001
|
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)
|
rs755890938
|
0.00001
|
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=)
|
rs763230648
|
0.00001
|
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)
|
rs189717232
|
0.00001
|
NM_001244710.2(GFPT1):c.408+15C>T
|
rs1357797263
|
0.00001
|
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His)
|
rs987906924
|
0.00001
|
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln)
|
rs1034928233
|
0.00001
|
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu)
|
rs773850508
|
0.00001
|
NM_001244710.2(GFPT1):c.606-3C>T
|
rs1286081479
|
0.00001
|
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val)
|
rs1489383761
|
0.00001
|
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=)
|
rs752515655
|
0.00001
|
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys)
|
rs764200601
|
0.00001
|
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter)
|
rs375268742
|
0.00001
|
NM_001382.4(DPAGT1):c.1006-8C>G
|
rs1357255095
|
0.00001
|
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)
|
rs376996734
|
0.00001
|
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)
|
rs555841797
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)
|
rs761911331
|
0.00001
|
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)
|
rs768805817
|
0.00001
|
NM_001382.4(DPAGT1):c.1161+10G>A
|
rs761082821
|
0.00001
|
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)
|
rs747073447
|
0.00001
|
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)
|
rs187919120
|
0.00001
|
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)
|
rs746759603
|
0.00001
|
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
|
rs779911586
|
0.00001
|
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)
|
rs1272156856
|
0.00001
|
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)
|
rs772133269
|
0.00001
|
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)
|
rs200588529
|
0.00001
|
NM_001382.4(DPAGT1):c.161+6C>T
|
rs762402071
|
0.00001
|
NM_001382.4(DPAGT1):c.162-20C>T
|
rs749879111
|
0.00001
|
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)
|
rs1041735569
|
0.00001
|
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)
|
rs1057521151
|
0.00001
|
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)
|
rs1438468092
|
0.00001
|
NM_001382.4(DPAGT1):c.26dup (p.Met9fs)
|
rs768656482
|
0.00001
|
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)
|
rs1234809605
|
0.00001
|
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)
|
rs759595271
|
0.00001
|
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)
|
rs200991527
|
0.00001
|
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
|
rs368415403
|
0.00001
|
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)
|
rs1555207826
|
0.00001
|
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
|
rs746187785
|
0.00001
|
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val)
|
rs532412952
|
0.00001
|
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser)
|
rs1229553796
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
|
rs1328286236
|
0.00001
|
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=)
|
rs376528767
|
0.00001
|
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)
|
rs775716973
|
0.00001
|
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=)
|
rs373632825
|
0.00001
|
NM_001382.4(DPAGT1):c.621C>T (p.Val207=)
|
rs778726543
|
0.00001
|
NM_001382.4(DPAGT1):c.633A>G (p.Val211=)
|
rs767551785
|
0.00001
|
NM_001382.4(DPAGT1):c.643+14G>C
|
rs536452844
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp)
|
rs1053302601
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)
|
rs1371529040
|
0.00001
|
NM_001382.4(DPAGT1):c.729-10C>A
|
rs1413156382
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)
|
rs780516960
|
0.00001
|
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
|
rs376322200
|
0.00001
|
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)
|
rs776632995
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)
|
rs1432186196
|
0.00001
|
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)
|
rs779048359
|
0.00001
|
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly)
|
rs767110056
|
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.1154G>A (p.Arg385Gln)
|
rs772931812
|
0.00001
|
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)
|
rs776484311
|
0.00001
|
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=)
|
rs1941501832
|
0.00001
|
NM_002334.4(LRP4):c.1251A>G (p.Gln417=)
|
rs753671990
|
0.00001
|
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)
|
rs1032020389
|
0.00001
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
NM_002334.4(LRP4):c.1344C>T (p.Ile448=)
|
rs748651620
|
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.1599G>A (p.Ser533=)
|
rs745607132
|
0.00001
|
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp)
|
rs371763360
|
0.00001
|
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser)
|
rs1941453950
|
0.00001
|
NM_002334.4(LRP4):c.1761T>C (p.Ser587=)
|
rs1191198188
|
0.00001
|
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn)
|
rs779387728
|
0.00001
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
NM_002334.4(LRP4):c.1829G>A (p.Arg610His)
|
rs17848218
|
0.00001
|
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys)
|
rs771793515
|
0.00001
|
NM_002334.4(LRP4):c.186T>C (p.Asp62=)
|
rs1941691871
|
0.00001
|
NM_002334.4(LRP4):c.1915+10T>C
|
rs566481615
|
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.2118C>T (p.Asn706=)
|
rs762032159
|
0.00001
|
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met)
|
rs777222715
|
0.00001
|
NM_002334.4(LRP4):c.21G>A (p.Ala7=)
|
rs967769665
|
0.00001
|
NM_002334.4(LRP4):c.2216-13G>A
|
rs376073181
|
0.00001
|
NM_002334.4(LRP4):c.2216-3C>T
|
rs555994387
|
0.00001
|
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)
|
rs545112106
|
0.00001
|
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys)
|
rs376444422
|
0.00001
|
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)
|
rs886048354
|
0.00001
|
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)
|
rs190872977
|
0.00001
|
NM_002334.4(LRP4):c.2424+12C>T
|
rs765593279
|
0.00001
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)
|
rs754708237
|
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.2835C>T (p.Leu945=)
|
rs201362411
|
0.00001
|
NM_002334.4(LRP4):c.2859C>T (p.Leu953=)
|
rs1368908778
|
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.3005-17C>T
|
rs778370608
|
0.00001
|
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)
|
rs201695857
|
0.00001
|
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=)
|
rs537403005
|
0.00001
|
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=)
|
rs1000744964
|
0.00001
|
NM_002334.4(LRP4):c.3137-8C>T
|
rs1941047135
|
0.00001
|
NM_002334.4(LRP4):c.316+1G>A
|
rs780336679
|
0.00001
|
NM_002334.4(LRP4):c.317-11T>C
|
rs776234303
|
0.00001
|
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu)
|
rs556889686
|
0.00001
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp)
|
rs775191643
|
0.00001
|
NM_002334.4(LRP4):c.3277+11C>T
|
rs761158182
|
0.00001
|
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn)
|
rs770071302
|
0.00001
|
NM_002334.4(LRP4):c.3365-7C>T
|
rs1565783851
|
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.3580C>T (p.Arg1194Trp)
|
rs746573834
|
0.00001
|
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg)
|
rs745459741
|
0.00001
|
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr)
|
rs752888601
|
0.00001
|
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=)
|
rs755263623
|
0.00001
|
NM_002334.4(LRP4):c.3699+10G>A
|
rs770541308
|
0.00001
|
NM_002334.4(LRP4):c.3699+5G>C
|
rs745544336
|
0.00001
|
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser)
|
rs376299085
|
0.00001
|
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=)
|
rs200028319
|
0.00001
|
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)
|
rs746136135
|
0.00001
|
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)
|
rs371205300
|
0.00001
|
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met)
|
rs756641717
|
0.00001
|
NM_002334.4(LRP4):c.390T>C (p.Asp130=)
|
rs140186161
|
0.00001
|
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)
|
rs771126504
|
0.00001
|
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=)
|
rs1424152195
|
0.00001
|
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr)
|
rs1940969409
|
0.00001
|
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=)
|
rs771308040
|
0.00001
|
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly)
|
rs1565782159
|
0.00001
|
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln)
|
rs763442262
|
0.00001
|
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)
|
rs768733310
|
0.00001
|
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=)
|
rs1246562304
|
0.00001
|
NM_002334.4(LRP4):c.417C>T (p.Ser139=)
|
rs760201117
|
0.00001
|
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile)
|
rs777975583
|
0.00001
|
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn)
|
rs758719937
|
0.00001
|
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg)
|
rs1026948492
|
0.00001
|
NM_002334.4(LRP4):c.429T>C (p.Cys143=)
|
rs1486932718
|
0.00001
|
NM_002334.4(LRP4):c.430+7G>A
|
rs1261702662
|
0.00001
|
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val)
|
rs571418643
|
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.441G>A (p.Lys147=)
|
rs986524567
|
0.00001
|
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu)
|
rs764880010
|
0.00001
|
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe)
|
rs1239578585
|
0.00001
|
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)
|
rs764079526
|
0.00001
|
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)
|
rs766956711
|
0.00001
|
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe)
|
rs1940914910
|
0.00001
|
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)
|
rs758635404
|
0.00001
|
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys)
|
rs756059712
|
0.00001
|
NM_002334.4(LRP4):c.461G>A (p.Arg154His)
|
rs748199837
|
0.00001
|
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser)
|
rs142352845
|
0.00001
|
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys)
|
rs771144609
|
0.00001
|
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)
|
rs746746234
|
0.00001
|
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)
|
rs756543033
|
0.00001
|
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=)
|
rs143849188
|
0.00001
|
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser)
|
rs769497270
|
0.00001
|
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr)
|
rs768284053
|
0.00001
|
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)
|
rs762976165
|
0.00001
|
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys)
|
rs528376810
|
0.00001
|
NM_002334.4(LRP4):c.5088-19A>C
|
rs1338147762
|
0.00001
|
NM_002334.4(LRP4):c.5088-5C>T
|
rs994961184
|
0.00001
|
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn)
|
rs1241649761
|
0.00001
|
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)
|
rs777935842
|
0.00001
|
NM_002334.4(LRP4):c.5156-15C>A
|
rs1204328295
|
0.00001
|
NM_002334.4(LRP4):c.52+13C>T
|
rs1434991490
|
0.00001
|
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr)
|
rs776705313
|
0.00001
|
NM_002334.4(LRP4):c.5247C>T (p.His1749=)
|
rs138596351
|
0.00001
|
NM_002334.4(LRP4):c.531C>T (p.Ser177=)
|
rs751226124
|
0.00001
|
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His)
|
rs1208850907
|
0.00001
|
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)
|
rs376540994
|
0.00001
|
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp)
|
rs1208569811
|
0.00001
|
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)
|
rs772706817
|
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.548-18C>A
|
rs779705585
|
0.00001
|
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)
|
rs767372541
|
0.00001
|
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met)
|
rs368840169
|
0.00001
|
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)
|
rs762431184
|
0.00001
|
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr)
|
rs1312872252
|
0.00001
|
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)
|
rs772245536
|
0.00001
|
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile)
|
rs777229906
|
0.00001
|
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala)
|
rs773770584
|
0.00001
|
NM_002334.4(LRP4):c.724C>T (p.Leu242=)
|
rs1037889784
|
0.00001
|
NM_002334.4(LRP4):c.746G>A (p.Arg249His)
|
rs780066978
|
0.00001
|
NM_002334.4(LRP4):c.750C>T (p.Cys250=)
|
rs758493823
|
0.00001
|
NM_002334.4(LRP4):c.759C>T (p.Asp253=)
|
rs368640705
|
0.00001
|
NM_002334.4(LRP4):c.806T>C (p.Met269Thr)
|
rs776417067
|
0.00001
|
NM_002334.4(LRP4):c.812C>T (p.Thr271Met)
|
rs768904639
|
0.00001
|
NM_002334.4(LRP4):c.851G>A (p.Arg284His)
|
rs369307795
|
0.00001
|
NM_002334.4(LRP4):c.894C>T (p.Asn298=)
|
rs1592542950
|
0.00001
|
NM_002334.4(LRP4):c.922+12C>T
|
rs1297911489
|
0.00001
|
NM_002334.4(LRP4):c.922+19C>G
|
rs749318305
|
0.00001
|
NM_002334.4(LRP4):c.923-19T>C
|
rs528895748
|
0.00001
|
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys)
|
rs1257559745
|
0.00001
|
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr)
|
rs753709386
|
0.00001
|
NM_003081.5(SNAP25):c.552+3G>T
|
rs780941797
|
0.00001
|
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)
|
rs768445220
|
0.00001
|
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln)
|
rs757902272
|
0.00001
|
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp)
|
rs529117281
|
0.00001
|
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=)
|
rs764482974
|
0.00001
|
NM_005055.5(RAPSN):c.1044C>T (p.His348=)
|
rs1014137280
|
0.00001
|
NM_005055.5(RAPSN):c.1070dup (p.Glu358fs)
|
rs1475015182
|
0.00001
|
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met)
|
rs768394140
|
0.00001
|
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val)
|
rs1231669536
|
0.00001
|
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)
|
rs150934532
|
0.00001
|
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys)
|
rs756519962
|
0.00001
|
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=)
|
rs150503333
|
0.00001
|
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)
|
rs1048200516
|
0.00001
|
NM_005055.5(RAPSN):c.111G>A (p.Ser37=)
|
rs146825957
|
0.00001
|
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)
|
rs1368702539
|
0.00001
|
NM_005055.5(RAPSN):c.1166+18G>A
|
rs536788411
|
0.00001
|
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)
|
rs1353799875
|
0.00001
|
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser)
|
rs370123138
|
0.00001
|
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)
|
rs530896580
|
0.00001
|
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys)
|
rs1165174416
|
0.00001
|
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)
|
rs2076326463
|
0.00001
|
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr)
|
rs1486159580
|
0.00001
|
NM_005055.5(RAPSN):c.132C>T (p.Arg44=)
|
rs772917848
|
0.00001
|
NM_005055.5(RAPSN):c.150C>A (p.Val50=)
|
rs768214983
|
0.00001
|
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu)
|
rs750772292
|
0.00001
|
NM_005055.5(RAPSN):c.192+12C>T
|
rs774654232
|
0.00001
|
NM_005055.5(RAPSN):c.192+7G>T
|
rs767745050
|
0.00001
|
NM_005055.5(RAPSN):c.195C>T (p.Phe65=)
|
rs772563068
|
0.00001
|
NM_005055.5(RAPSN):c.210C>T (p.Ile70=)
|
rs773975835
|
0.00001
|
NM_005055.5(RAPSN):c.219C>G (p.Ala73=)
|
rs2076424955
|
0.00001
|
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp)
|
rs778157857
|
0.00001
|
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln)
|
rs568433059
|
0.00001
|
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)
|
rs11556408
|
0.00001
|
NM_005055.5(RAPSN):c.237C>T (p.Ala79=)
|
rs888989685
|
0.00001
|
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn)
|
rs781724566
|
0.00001
|
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys)
|
rs767507908
|
0.00001
|
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)
|
rs770016019
|
0.00001
|
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr)
|
rs1341207988
|
0.00001
|
NM_005055.5(RAPSN):c.321G>A (p.Lys107=)
|
rs781529364
|
0.00001
|
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)
|
rs1164228546
|
0.00001
|
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp)
|
rs1047615316
|
0.00001
|
NM_005055.5(RAPSN):c.345C>A (p.Thr115=)
|
rs1353205717
|
0.00001
|
NM_005055.5(RAPSN):c.408C>T (p.Leu136=)
|
rs1466576877
|
0.00001
|
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe)
|
rs1256816164
|
0.00001
|
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro)
|
rs104894300
|
0.00001
|
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp)
|
rs368695664
|
0.00001
|
NM_005055.5(RAPSN):c.429G>A (p.Leu143=)
|
rs762052702
|
0.00001
|
NM_005055.5(RAPSN):c.438C>T (p.Phe146=)
|
rs1459059463
|
0.00001
|
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys)
|
rs560525099
|
0.00001
|
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys)
|
rs1326936118
|
0.00001
|
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys)
|
rs148600999
|
0.00001
|
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)
|
rs780985479
|
0.00001
|
NM_005055.5(RAPSN):c.483C>T (p.Leu161=)
|
rs754775068
|
0.00001
|
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys)
|
rs121909255
|
0.00001
|
NM_005055.5(RAPSN):c.493G>A (p.Val165Met)
|
rs761584017
|
0.00001
|
NM_005055.5(RAPSN):c.528C>G (p.Val176=)
|
rs761149747
|
0.00001
|
NM_005055.5(RAPSN):c.531+1G>T
|
rs1421354085
|
0.00001
|
NM_005055.5(RAPSN):c.532-12T>C
|
rs768129120
|
0.00001
|
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys)
|
rs1452482859
|
0.00001
|
NM_005055.5(RAPSN):c.558C>T (p.Pro186=)
|
rs773462623
|
0.00001
|
NM_005055.5(RAPSN):c.576T>C (p.Leu192=)
|
rs745749798
|
0.00001
|
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)
|
rs747627949
|
0.00001
|
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp)
|
rs756738642
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005055.5(RAPSN):c.645C>T (p.Ala215=)
|
rs1338665465
|
0.00001
|
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys)
|
rs766845970
|
0.00001
|
NM_005055.5(RAPSN):c.662G>A (p.Arg221His)
|
rs1377574572
|
0.00001
|
NM_005055.5(RAPSN):c.690+14G>T
|
rs752360126
|
0.00001
|
NM_005055.5(RAPSN):c.691-5C>T
|
rs1291023159
|
0.00001
|
NM_005055.5(RAPSN):c.723C>T (p.Asp241=)
|
rs769383562
|
0.00001
|
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro)
|
rs780963721
|
0.00001
|
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val)
|
rs559933584
|
0.00001
|
NM_005055.5(RAPSN):c.738G>A (p.Ala246=)
|
rs889862832
|
0.00001
|
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn)
|
rs750888238
|
0.00001
|
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp)
|
rs753956536
|
0.00001
|
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn)
|
rs762865029
|
0.00001
|
NM_005055.5(RAPSN):c.789+17G>A
|
rs369690955
|
0.00001
|
NM_005055.5(RAPSN):c.7C>T (p.Gln3Ter)
|
rs2076433607
|
0.00001
|
NM_005055.5(RAPSN):c.813C>T (p.Ser271=)
|
rs760253392
|
0.00001
|
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)
|
rs199984356
|
0.00001
|
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp)
|
rs374604570
|
0.00001
|
NM_005055.5(RAPSN):c.90A>G (p.Thr30=)
|
rs753896492
|
0.00001
|
NM_005055.5(RAPSN):c.912+11G>T
|
rs780444573
|
0.00001
|
NM_005055.5(RAPSN):c.912+6G>A
|
rs781362707
|
0.00001
|
NM_005055.5(RAPSN):c.912+8C>T
|
rs375174267
|
0.00001
|
NM_005055.5(RAPSN):c.913-18C>T
|
rs570429072
|
0.00001
|
NM_005055.5(RAPSN):c.927C>T (p.Ile309=)
|
rs144813373
|
0.00001
|
NM_005055.5(RAPSN):c.957G>C (p.Val319=)
|
rs794727796
|
0.00001
|
NM_005055.5(RAPSN):c.967-10C>T
|
rs754320492
|
0.00001
|
NM_005055.5(RAPSN):c.987C>T (p.His329=)
|
rs1340342787
|
0.00001
|
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr)
|
rs758777519
|
0.00001
|
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)
|
rs768323977
|
0.00001
|
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe)
|
rs747717789
|
0.00001
|
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu)
|
rs770907001
|
0.00001
|
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys)
|
rs745722798
|
0.00001
|
NM_005592.4(MUSK):c.1279C>G (p.His427Asp)
|
rs751266636
|
0.00001
|
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)
|
rs372013406
|
0.00001
|
NM_005592.4(MUSK):c.1329C>T (p.Asp443=)
|
rs1174184253
|
0.00001
|
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro)
|
rs763800237
|
0.00001
|
NM_005592.4(MUSK):c.1360+6dup
|
rs1329670157
|
0.00001
|
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn)
|
rs202239254
|
0.00001
|
NM_005592.4(MUSK):c.138T>C (p.Thr46=)
|
rs776479773
|
0.00001
|
NM_005592.4(MUSK):c.1419G>A (p.Val473=)
|
rs750052542
|
0.00001
|
NM_005592.4(MUSK):c.1446C>T (p.Ser482=)
|
rs754903785
|
0.00001
|
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro)
|
rs1161905783
|
0.00001
|
NM_005592.4(MUSK):c.1512T>C (p.Phe504=)
|
rs374722867
|
0.00001
|
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile)
|
rs1467052958
|
0.00001
|
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln)
|
rs773818596
|
0.00001
|
NM_005592.4(MUSK):c.1650C>T (p.Pro550=)
|
rs2077842363
|
0.00001
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val)
|
rs953823198
|
0.00001
|
NM_005592.4(MUSK):c.1755G>A (p.Ala585=)
|
rs377355441
|
0.00001
|
NM_005592.4(MUSK):c.1767G>C (p.Val589=)
|
rs546916589
|
0.00001
|
NM_005592.4(MUSK):c.1778+17A>G
|
rs769781832
|
0.00001
|
NM_005592.4(MUSK):c.1778+20A>G
|
rs773113428
|
0.00001
|
NM_005592.4(MUSK):c.1813A>G (p.Met605Val)
|
rs758777089
|
0.00001
|
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val)
|
rs769807910
|
0.00001
|
NM_005592.4(MUSK):c.1915G>A (p.Val639Met)
|
rs766810675
|
0.00001
|
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser)
|
rs751851038
|
0.00001
|
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His)
|
rs760452360
|
0.00001
|
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys)
|
rs754730206
|
0.00001
|
NM_005592.4(MUSK):c.206+5G>A
|
rs767539226
|
0.00001
|
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe)
|
rs1464125081
|
0.00001
|
NM_005592.4(MUSK):c.2085A>C (p.Pro695=)
|
rs772759899
|
0.00001
|
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro)
|
rs1377981904
|
0.00001
|
NM_005592.4(MUSK):c.2156G>A (p.Arg719His)
|
rs545173798
|
0.00001
|
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)
|
rs1238400476
|
0.00001
|
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)
|
rs1255531873
|
0.00001
|
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp)
|
rs1370203787
|
0.00001
|
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln)
|
rs758118087
|
0.00001
|
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr)
|
rs752514384
|
0.00001
|
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)
|
rs750833487
|
0.00001
|
NM_005592.4(MUSK):c.2333G>A (p.Arg778His)
|
rs751712655
|
0.00001
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp)
|
rs34614566
|
0.00001
|
NM_005592.4(MUSK):c.2397C>T (p.Gly799=)
|
rs775509048
|
0.00001
|
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)
|
rs376837791
|
0.00001
|
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala)
|
rs1644805907
|
0.00001
|
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp)
|
rs1455145377
|
0.00001
|
NM_005592.4(MUSK):c.2433C>T (p.Val811=)
|
rs761652640
|
0.00001
|
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)
|
rs1487680236
|
0.00001
|
NM_005592.4(MUSK):c.2507G>A (p.Arg836His)
|
rs371689428
|
0.00001
|
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe)
|
rs748071334
|
0.00001
|
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys)
|
rs1588054854
|
0.00001
|
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala)
|
rs779710805
|
0.00001
|
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
|
rs201134491
|
0.00001
|
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe)
|
rs760781844
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_005592.4(MUSK):c.315G>A (p.Val105=)
|
rs751133130
|
0.00001
|
NM_005592.4(MUSK):c.359-2dup
|
rs1185775471
|
0.00001
|
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala)
|
rs1210600769
|
0.00001
|
NM_005592.4(MUSK):c.43C>A (p.Leu15Met)
|
rs746254848
|
0.00001
|
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys)
|
rs1476034971
|
0.00001
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
NM_005592.4(MUSK):c.486+6T>G
|
rs763532251
|
0.00001
|
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)
|
rs763656507
|
0.00001
|
NM_005592.4(MUSK):c.538G>A (p.Val180Ile)
|
rs1468498564
|
0.00001
|
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
|
rs373304727
|
0.00001
|
NM_005592.4(MUSK):c.57C>T (p.Ser19=)
|
rs750615817
|
0.00001
|
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg)
|
rs758427621
|
0.00001
|
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile)
|
rs561525761
|
0.00001
|
NM_005592.4(MUSK):c.635C>T (p.Ala212Val)
|
rs756953369
|
0.00001
|
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg)
|
rs376911820
|
0.00001
|
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)
|
rs1170201682
|
0.00001
|
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg)
|
rs1372004765
|
0.00001
|
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala)
|
rs1187474550
|
0.00001
|
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln)
|
rs193019632
|
0.00001
|
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg)
|
rs752641780
|
0.00001
|
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys)
|
rs1416891382
|
0.00001
|
NM_005592.4(MUSK):c.951C>T (p.Cys317=)
|
rs1311522447
|
0.00001
|
NM_005677.4(COLQ):c.1006G>A (p.Ala336Thr)
|
rs1221084401
|
0.00001
|
NM_005677.4(COLQ):c.1116C>T (p.His372=)
|
rs759169923
|
0.00001
|
NM_005677.4(COLQ):c.1185C>T (p.Asp395=)
|
rs548322139
|
0.00001
|
NM_005677.4(COLQ):c.1195+1G>A
|
rs755782087
|
0.00001
|
NM_005677.4(COLQ):c.1196-16C>T
|
rs1360920116
|
0.00001
|
NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys)
|
rs764064240
|
0.00001
|
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe)
|
rs1336071409
|
0.00001
|
NM_005677.4(COLQ):c.1229G>A (p.Arg410Gln)
|
rs1025361623
|
0.00001
|
NM_005677.4(COLQ):c.1281C>T (p.Cys427=)
|
rs185829251
|
0.00001
|
NM_005677.4(COLQ):c.1299-5C>T
|
rs1036242028
|
0.00001
|
NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn)
|
rs770753693
|
0.00001
|
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met)
|
rs1015425548
|
0.00001
|
NM_005677.4(COLQ):c.1350C>T (p.Pro450=)
|
rs747648795
|
0.00001
|
NM_005677.4(COLQ):c.136G>A (p.Gly46Ser)
|
rs981504781
|
0.00001
|
NM_005677.4(COLQ):c.165G>A (p.Thr55=)
|
rs777613214
|
0.00001
|
NM_005677.4(COLQ):c.16C>T (p.Pro6Ser)
|
rs1314591935
|
0.00001
|
NM_005677.4(COLQ):c.180A>G (p.Pro60=)
|
rs750564606
|
0.00001
|
NM_005677.4(COLQ):c.188C>T (p.Pro63Leu)
|
rs1553637369
|
0.00001
|
NM_005677.4(COLQ):c.19A>G (p.Met7Val)
|
rs774887446
|
0.00001
|
NM_005677.4(COLQ):c.1A>G (p.Met1Val)
|
rs754147251
|
0.00001
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
NM_005677.4(COLQ):c.241A>G (p.Asn81Asp)
|
rs748826424
|
0.00001
|
NM_005677.4(COLQ):c.276G>A (p.Pro92=)
|
rs753997328
|
0.00001
|
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu)
|
rs531584926
|
0.00001
|
NM_005677.4(COLQ):c.321+16C>T
|
rs772748231
|
0.00001
|
NM_005677.4(COLQ):c.357G>A (p.Lys119=)
|
rs771988325
|
0.00001
|
NM_005677.4(COLQ):c.380G>A (p.Arg127Gln)
|
rs201856842
|
0.00001
|
NM_005677.4(COLQ):c.402T>C (p.Pro134=)
|
rs766356664
|
0.00001
|
NM_005677.4(COLQ):c.406C>T (p.Pro136Ser)
|
rs1039189998
|
0.00001
|
NM_005677.4(COLQ):c.432G>A (p.Gly144=)
|
rs993225440
|
0.00001
|
NM_005677.4(COLQ):c.450C>T (p.Gly150=)
|
rs771279997
|
0.00001
|
NM_005677.4(COLQ):c.460C>G (p.Pro154Ala)
|
rs755848079
|
0.00001
|
NM_005677.4(COLQ):c.465+5G>T
|
rs1384588788
|
0.00001
|
NM_005677.4(COLQ):c.466-9T>G
|
rs930607699
|
0.00001
|
NM_005677.4(COLQ):c.473A>C (p.Lys158Thr)
|
rs1278879838
|
0.00001
|
NM_005677.4(COLQ):c.529-10T>A
|
rs968125549
|
0.00001
|
NM_005677.4(COLQ):c.555+5G>T
|
rs765867687
|
0.00001
|
NM_005677.4(COLQ):c.584G>A (p.Gly195Asp)
|
rs764640385
|
0.00001
|
NM_005677.4(COLQ):c.60C>T (p.Ile20=)
|
rs773097270
|
0.00001
|
NM_005677.4(COLQ):c.610G>A (p.Gly204Arg)
|
rs374783562
|
0.00001
|
NM_005677.4(COLQ):c.640G>T (p.Glu214Ter)
|
rs104893733
|
0.00001
|
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter)
|
rs770045897
|
0.00001
|
NM_005677.4(COLQ):c.718-11C>A
|
rs779127197
|
0.00001
|
NM_005677.4(COLQ):c.718-5G>A
|
rs748890722
|
0.00001
|
NM_005677.4(COLQ):c.729G>A (p.Gly243=)
|
rs941592757
|
0.00001
|
NM_005677.4(COLQ):c.784C>T (p.Arg262Cys)
|
rs1318954229
|
0.00001
|
NM_005677.4(COLQ):c.810T>G (p.Pro270=)
|
rs1379560902
|
0.00001
|
NM_005677.4(COLQ):c.820C>T (p.Leu274Phe)
|
rs763262836
|
0.00001
|
NM_005677.4(COLQ):c.833C>A (p.Pro278His)
|
rs1341977323
|
0.00001
|
NM_005677.4(COLQ):c.914G>T (p.Gly305Val)
|
rs763518486
|
0.00001
|
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp)
|
rs765680430
|
0.00001
|
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu)
|
rs370201862
|
0.00001
|
NM_005677.4(COLQ):c.943C>T (p.Arg315Ter)
|
rs121908924
|
0.00001
|
NM_005677.4(COLQ):c.954+1G>A
|
rs757060689
|
0.00001
|
NM_005677.4(COLQ):c.955-6T>C
|
rs372534357
|
0.00001
|
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser)
|
rs781745178
|
0.00001
|
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys)
|
rs200776329
|
0.00001
|
NM_020549.5(CHAT):c.1044T>A (p.Pro348=)
|
rs200009054
|
0.00001
|
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)
|
rs1004933171
|
0.00001
|
NM_020549.5(CHAT):c.1098G>A (p.Thr366=)
|
rs780860401
|
0.00001
|
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln)
|
rs1463880522
|
0.00001
|
NM_020549.5(CHAT):c.1197C>T (p.Ser399=)
|
rs554276268
|
0.00001
|
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser)
|
rs749948399
|
0.00001
|
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn)
|
rs759707536
|
0.00001
|
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg)
|
rs1423177834
|
0.00001
|
NM_020549.5(CHAT):c.1281+7C>T
|
rs776458664
|
0.00001
|
NM_020549.5(CHAT):c.1282-3C>T
|
rs1373606481
|
0.00001
|
NM_020549.5(CHAT):c.1282-6T>C
|
rs771457200
|
0.00001
|
NM_020549.5(CHAT):c.1320C>T (p.Cys440=)
|
rs766466820
|
0.00001
|
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys)
|
rs121912816
|
0.00001
|
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala)
|
rs745938985
|
0.00001
|
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln)
|
rs774834313
|
0.00001
|
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile)
|
rs371719364
|
0.00001
|
NM_020549.5(CHAT):c.1434C>T (p.Pro478=)
|
rs1322638546
|
0.00001
|
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu)
|
rs764921945
|
0.00001
|
NM_020549.5(CHAT):c.1485A>G (p.Leu495=)
|
rs151031033
|
0.00001
|
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe)
|
rs141878259
|
0.00001
|
NM_020549.5(CHAT):c.1497A>G (p.Ala499=)
|
rs752844751
|
0.00001
|
NM_020549.5(CHAT):c.1510C>T (p.Arg504Ter)
|
rs371470622
|
0.00001
|
NM_020549.5(CHAT):c.1511+11C>T
|
rs746929234
|
0.00001
|
NM_020549.5(CHAT):c.1512-15C>T
|
rs757451959
|
0.00001
|
NM_020549.5(CHAT):c.1516G>T (p.Val506Leu)
|
rs121912817
|
0.00001
|
NM_020549.5(CHAT):c.1530C>T (p.Asp510=)
|
rs558298529
|
0.00001
|
NM_020549.5(CHAT):c.1642C>T (p.Arg548Ter)
|
rs369251527
|
0.00001
|
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln)
|
rs141881680
|
0.00001
|
NM_020549.5(CHAT):c.1662C>T (p.Tyr554=)
|
rs145370753
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)
|
rs1458796820
|
0.00001
|
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys)
|
rs368957556
|
0.00001
|
NM_020549.5(CHAT):c.1750G>A (p.Val584Met)
|
rs547073881
|
0.00001
|
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val)
|
rs1313042835
|
0.00001
|
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu)
|
rs766916844
|
0.00001
|
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu)
|
rs1399092731
|
0.00001
|
NM_020549.5(CHAT):c.180C>T (p.His60=)
|
rs991244716
|
0.00001
|
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)
|
rs1178039732
|
0.00001
|
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn)
|
rs773228076
|
0.00001
|
NM_020549.5(CHAT):c.1839+10G>A
|
rs570678896
|
0.00001
|
NM_020549.5(CHAT):c.1839+9C>T
|
rs777285888
|
0.00001
|
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro)
|
rs775066227
|
0.00001
|
NM_020549.5(CHAT):c.1968C>T (p.Ser656=)
|
rs1303365039
|
0.00001
|
NM_020549.5(CHAT):c.198C>T (p.Arg66=)
|
rs1230433889
|
0.00001
|
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp)
|
rs1156904329
|
0.00001
|
NM_020549.5(CHAT):c.201C>T (p.Pro67=)
|
rs978684444
|
0.00001
|
NM_020549.5(CHAT):c.2049C>T (p.Asn683=)
|
rs758454149
|
0.00001
|
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr)
|
rs924554606
|
0.00001
|
NM_020549.5(CHAT):c.2081C>G (p.Ser694Cys)
|
rs201439531
|
0.00001
|
NM_020549.5(CHAT):c.2112T>C (p.Ser704=)
|
rs1316813571
|
0.00001
|
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr)
|
rs1419018923
|
0.00001
|
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp)
|
rs1840309929
|
0.00001
|
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)
|
rs1268273103
|
0.00001
|
NM_020549.5(CHAT):c.222C>T (p.Thr74=)
|
rs767600029
|
0.00001
|
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu)
|
rs867343616
|
0.00001
|
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)
|
rs1384661323
|
0.00001
|
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly)
|
rs1330484583
|
0.00001
|
NM_020549.5(CHAT):c.24G>A (p.Lys8=)
|
rs1444707075
|
0.00001
|
NM_020549.5(CHAT):c.276G>C (p.Pro92=)
|
rs745665140
|
0.00001
|
NM_020549.5(CHAT):c.287-16A>T
|
rs1289534650
|
0.00001
|
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe)
|
rs776042082
|
0.00001
|
NM_020549.5(CHAT):c.357G>A (p.Met119Ile)
|
rs759310217
|
0.00001
|
NM_020549.5(CHAT):c.393G>T (p.Leu131=)
|
rs769827861
|
0.00001
|
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu)
|
rs557059182
|
0.00001
|
NM_020549.5(CHAT):c.528C>T (p.Gly176=)
|
rs778476300
|
0.00001
|
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser)
|
rs757480104
|
0.00001
|
NM_020549.5(CHAT):c.534C>T (p.Thr178=)
|
rs1838639286
|
0.00001
|
NM_020549.5(CHAT):c.540G>C (p.Gln180His)
|
rs200143133
|
0.00001
|
NM_020549.5(CHAT):c.54G>A (p.Lys18=)
|
rs1237220229
|
0.00001
|
NM_020549.5(CHAT):c.580-6C>T
|
rs749162949
|
0.00001
|
NM_020549.5(CHAT):c.618C>T (p.Asn206=)
|
rs775282060
|
0.00001
|
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys)
|
rs760936252
|
0.00001
|
NM_020549.5(CHAT):c.631C>G (p.Pro211Ala)
|
rs121912815
|
0.00001
|
NM_020549.5(CHAT):c.652G>A (p.Val218Met)
|
rs751863010
|
0.00001
|
NM_020549.5(CHAT):c.657C>A (p.Ile219=)
|
rs1280679259
|
0.00001
|
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe)
|
rs1269023544
|
0.00001
|
NM_020549.5(CHAT):c.798G>A (p.Gln266=)
|
rs142237923
|
0.00001
|
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys)
|
rs1186633197
|
0.00001
|
NM_020549.5(CHAT):c.841C>T (p.Arg281Trp)
|
rs747108035
|
0.00001
|
NM_020549.5(CHAT):c.843G>C (p.Arg281=)
|
rs768892260
|
0.00001
|
NM_020549.5(CHAT):c.849C>T (p.Pro283=)
|
rs1342051924
|
0.00001
|
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser)
|
rs745753124
|
0.00001
|
NM_020549.5(CHAT):c.916G>A (p.Val306Ile)
|
rs551219437
|
0.00001
|
NM_020549.5(CHAT):c.965G>A (p.Arg322His)
|
rs906626657
|
0.00001
|
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=)
|
rs745405514
|
0.00001
|
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu)
|
rs769383404
|
0.00001
|
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr)
|
rs1225811300
|
0.00001
|
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)
|
rs771965968
|
0.00001
|
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu)
|
rs776949424
|
0.00001
|
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu)
|
rs765428136
|
0.00001
|
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly)
|
rs750242187
|
0.00001
|
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)
|
rs760447400
|
0.00001
|
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)
|
rs770628227
|
0.00001
|
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=)
|
rs771422735
|
0.00001
|
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu)
|
rs770003632
|
0.00001
|
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln)
|
rs1677318394
|
0.00001
|
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=)
|
rs767552380
|
0.00001
|
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=)
|
rs750258339
|
0.00001
|
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=)
|
rs868433113
|
0.00001
|
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=)
|
rs561099749
|
0.00001
|
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=)
|
rs776077643
|
0.00001
|
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met)
|
rs759997671
|
0.00001
|
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val)
|
rs1248009607
|
0.00001
|
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe)
|
rs370223910
|
0.00001
|
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe)
|
rs532174786
|
0.00001
|
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys)
|
rs1446927168
|
0.00001
|
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile)
|
rs140863834
|
0.00001
|
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=)
|
rs772245675
|
0.00001
|
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg)
|
rs1288760672
|
0.00001
|
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu)
|
rs751068657
|
0.00001
|
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter)
|
rs199636877
|
0.00001
|
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs)
|
rs748711877
|
0.00001
|
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=)
|
rs1025757053
|
0.00001
|
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe)
|
rs374245840
|
0.00001
|
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=)
|
rs762662680
|
0.00001
|
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val)
|
rs751087167
|
0.00001
|
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=)
|
rs773790295
|
0.00001
|
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=)
|
rs1677475501
|
0.00001
|
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)
|
rs748862220
|
0.00001
|
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe)
|
rs1172822464
|
0.00001
|
NM_021815.5(SLC5A7):c.292+11G>A
|
rs777715689
|
0.00001
|
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys)
|
rs1265189648
|
0.00001
|
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)
|
rs911790588
|
0.00001
|
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=)
|
rs759885480
|
0.00001
|
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val)
|
rs764663527
|
0.00001
|
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)
|
rs1057353436
|
0.00001
|
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys)
|
rs757211775
|
0.00001
|
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg)
|
rs1222306029
|
0.00001
|
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe)
|
rs748901270
|
0.00001
|
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=)
|
rs1425880594
|
0.00001
|
NM_021815.5(SLC5A7):c.449-14C>T
|
rs1168011809
|
0.00001
|
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=)
|
rs752342608
|
0.00001
|
NM_021815.5(SLC5A7):c.534G>A (p.Val178=)
|
rs1573601177
|
0.00001
|
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn)
|
rs763744412
|
0.00001
|
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=)
|
rs1392135172
|
0.00001
|
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val)
|
rs1351029450
|
0.00001
|
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala)
|
rs1035258430
|
0.00001
|
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly)
|
rs1677927626
|
0.00001
|
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys)
|
rs755576066
|
0.00001
|
NM_021815.5(SLC5A7):c.711C>G (p.Val237=)
|
rs1305450818
|
0.00001
|
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe)
|
rs778161682
|
0.00001
|
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=)
|
rs972194774
|
0.00001
|
NM_021815.5(SLC5A7):c.741+11C>G
|
rs781484974
|
0.00001
|
NM_021815.5(SLC5A7):c.741+12T>C
|
rs745918946
|
0.00001
|
NM_021815.5(SLC5A7):c.742-19C>A
|
rs758950508
|
0.00001
|
NM_021815.5(SLC5A7):c.742-7C>T
|
rs367795192
|
0.00001
|
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=)
|
rs1354576821
|
0.00001
|
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=)
|
rs199981715
|
0.00001
|
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=)
|
rs369809428
|
0.00001
|
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=)
|
rs202046349
|
0.00001
|
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=)
|
rs1380320655
|
0.00001
|
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu)
|
rs1370287710
|
0.00001
|
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=)
|
rs542281272
|
0.00001
|
NM_033087.4(ALG2):c.1020A>G (p.Pro340=)
|
rs762693196
|
0.00001
|
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)
|
rs544811110
|
0.00001
|
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)
|
rs1828726794
|
0.00001
|
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)
|
rs1828725925
|
0.00001
|
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)
|
rs567637718
|
0.00001
|
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)
|
rs754159662
|
0.00001
|
NM_033087.4(ALG2):c.1098G>A (p.Pro366=)
|
rs562373747
|
0.00001
|
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)
|
rs762887574
|
0.00001
|
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
|
rs963221673
|
0.00001
|
NM_033087.4(ALG2):c.117G>A (p.Ala39=)
|
rs1353112014
|
0.00001
|
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)
|
rs1475354932
|
0.00001
|
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)
|
rs749613639
|
0.00001
|
NM_033087.4(ALG2):c.12G>A (p.Glu4=)
|
rs1036766977
|
0.00001
|
NM_033087.4(ALG2):c.168G>A (p.Pro56=)
|
rs1225254115
|
0.00001
|
NM_033087.4(ALG2):c.183C>T (p.Ala61=)
|
rs755793459
|
0.00001
|
NM_033087.4(ALG2):c.192C>T (p.Arg64=)
|
rs367616427
|
0.00001
|
NM_033087.4(ALG2):c.198A>G (p.Leu66=)
|
rs374316187
|
0.00001
|
NM_033087.4(ALG2):c.202G>A (p.Val68Met)
|
rs770103603
|
0.00001
|
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)
|
rs755705607
|
0.00001
|
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
|
rs941593352
|
0.00001
|
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
|
rs910168958
|
0.00001
|
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)
|
rs770722154
|
0.00001
|
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)
|
rs762654045
|
0.00001
|
NM_033087.4(ALG2):c.303G>A (p.Val101=)
|
rs371910648
|
0.00001
|
NM_033087.4(ALG2):c.304C>T (p.Leu102=)
|
rs749236548
|
0.00001
|
NM_033087.4(ALG2):c.30del (p.Ser11fs)
|
rs763575022
|
0.00001
|
NM_033087.4(ALG2):c.33G>A (p.Ser11=)
|
rs775776287
|
0.00001
|
NM_033087.4(ALG2):c.375G>A (p.Arg125=)
|
rs1270655898
|
0.00001
|
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
|
rs1025210566
|
0.00001
|
NM_033087.4(ALG2):c.39C>G (p.Pro13=)
|
rs746087117
|
0.00001
|
NM_033087.4(ALG2):c.402A>G (p.Leu134=)
|
rs772364404
|
0.00001
|
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)
|
rs752746581
|
0.00001
|
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
|
rs746092484
|
0.00001
|
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)
|
rs1486842886
|
0.00001
|
NM_033087.4(ALG2):c.48G>C (p.Ser16=)
|
rs199752563
|
0.00001
|
NM_033087.4(ALG2):c.571C>T (p.Leu191=)
|
rs1828740241
|
0.00001
|
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)
|
rs759789517
|
0.00001
|
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)
|
rs1166295828
|
0.00001
|
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)
|
rs745514949
|
0.00001
|
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)
|
rs139547697
|
0.00001
|
NM_033087.4(ALG2):c.663C>T (p.Pro221=)
|
rs201126562
|
0.00001
|
NM_033087.4(ALG2):c.690C>T (p.Ser230=)
|
rs368526201
|
0.00001
|
NM_033087.4(ALG2):c.699A>G (p.Arg233=)
|
rs746932585
|
0.00001
|
NM_033087.4(ALG2):c.702C>T (p.Tyr234=)
|
rs370457158
|
0.00001
|
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)
|
rs189167741
|
0.00001
|
NM_033087.4(ALG2):c.70C>T (p.Leu24=)
|
rs143683491
|
0.00001
|
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)
|
rs766853240
|
0.00001
|
NM_033087.4(ALG2):c.76G>A (p.Val26Met)
|
rs1280699944
|
0.00001
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
NM_033087.4(ALG2):c.894C>G (p.Thr298=)
|
rs758885892
|
0.00001
|
NM_033087.4(ALG2):c.936C>T (p.Leu312=)
|
rs753807667
|
0.00001
|
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)
|
rs764242401
|
0.00001
|
NM_130811.4(SNAP25):c.114+7A>G
|
rs2063714956
|
0.00001
|
NM_130811.4(SNAP25):c.115-12A>G
|
rs774171317
|
0.00001
|
NM_130811.4(SNAP25):c.115-15A>G
|
rs552723518
|
0.00001
|
NM_130811.4(SNAP25):c.164-4T>C
|
rs138078125
|
0.00001
|
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg)
|
rs763054916
|
0.00001
|
NM_130811.4(SNAP25):c.358G>A (p.Val120Ile)
|
rs761830881
|
0.00001
|
NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser)
|
rs202003366
|
0.00001
|
NM_130811.4(SNAP25):c.404G>A (p.Arg135His)
|
rs1315869651
|
0.00001
|
NM_130811.4(SNAP25):c.407+12G>A
|
rs752421716
|
0.00001
|
NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser)
|
rs2064181965
|
0.00001
|
NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn)
|
rs763898355
|
0.00001
|
NM_130811.4(SNAP25):c.553-13C>T
|
rs1568634670
|
0.00001
|
NM_130811.4(SNAP25):c.69T>C (p.Asp23=)
|
rs1278243837
|
0.00001
|
NM_130811.4(SNAP25):c.72+13G>A
|
rs752643793
|
0.00001
|
NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys)
|
rs535525064
|
0.00001
|
NM_130811.4(SNAP25):c.84C>T (p.Ser28=)
|
rs956599079
|
0.00001
|
NM_130811.4(SNAP25):c.89G>A (p.Arg30His)
|
rs577791521
|
0.00001
|
NM_130811.4(SNAP25):c.92G>A (p.Arg31His)
|
rs1341058084
|
0.00001
|
NM_144988.4(ALG14):c.109C>T (p.Leu37Phe)
|
rs1212603713
|
0.00001
|
NM_144988.4(ALG14):c.191C>T (p.Ser64Leu)
|
rs753195443
|
0.00001
|
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr)
|
rs767402341
|
0.00001
|
NM_144988.4(ALG14):c.277C>G (p.Pro93Ala)
|
rs775152763
|
0.00001
|
NM_144988.4(ALG14):c.280A>G (p.Ser94Gly)
|
rs1360024892
|
0.00001
|
NM_144988.4(ALG14):c.291T>C (p.Tyr97=)
|
rs199810632
|
0.00001
|
NM_144988.4(ALG14):c.328G>A (p.Glu110Lys)
|
rs976380616
|
0.00001
|
NM_144988.4(ALG14):c.371A>C (p.His124Pro)
|
rs1553228218
|
0.00001
|
NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr)
|
rs150452802
|
0.00001
|
NM_144988.4(ALG14):c.38C>T (p.Ala13Val)
|
rs983938710
|
0.00001
|
NM_144988.4(ALG14):c.421-6T>C
|
rs764786734
|
0.00001
|
NM_144988.4(ALG14):c.432C>T (p.Asn144=)
|
rs372801574
|
0.00001
|
NM_144988.4(ALG14):c.513C>T (p.Tyr171=)
|
rs145148882
|
0.00001
|
NM_144988.4(ALG14):c.535G>A (p.Glu179Lys)
|
rs957188576
|
0.00001
|
NM_144988.4(ALG14):c.539C>T (p.Thr180Met)
|
rs750820046
|
0.00001
|
NM_144988.4(ALG14):c.546C>T (p.Ser182=)
|
rs199846785
|
0.00001
|
NM_173660.5(DOK7):c.100+18G>A
|
rs1361843879
|
0.00001
|
NM_173660.5(DOK7):c.1056C>T (p.Leu352=)
|
rs751252312
|
0.00001
|
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro)
|
rs931160069
|
0.00001
|
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu)
|
rs757019137
|
0.00001
|
NM_173660.5(DOK7):c.1092G>T (p.Arg364=)
|
rs767282152
|
0.00001
|
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala)
|
rs556239795
|
0.00001
|
NM_173660.5(DOK7):c.109C>T (p.Leu37=)
|
rs1283794146
|
0.00001
|
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly)
|
rs375795223
|
0.00001
|
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro)
|
rs760412846
|
0.00001
|
NM_173660.5(DOK7):c.1158C>T (p.Cys386=)
|
rs770365337
|
0.00001
|
NM_173660.5(DOK7):c.1191G>C (p.Val397=)
|
rs781489489
|
0.00001
|
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys)
|
rs746536929
|
0.00001
|
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly)
|
rs1027188166
|
0.00001
|
NM_173660.5(DOK7):c.1227C>T (p.Arg409=)
|
rs762828158
|
0.00001
|
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly)
|
rs547633164
|
0.00001
|
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile)
|
rs1392647950
|
0.00001
|
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg)
|
rs756360879
|
0.00001
|
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp)
|
rs2020433
|
0.00001
|
NM_173660.5(DOK7):c.12G>A (p.Ala4=)
|
rs1202693776
|
0.00001
|
NM_173660.5(DOK7):c.1347G>A (p.Thr449=)
|
rs776624533
|
0.00001
|
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln)
|
rs777057956
|
0.00001
|
NM_173660.5(DOK7):c.1360C>T (p.Leu454=)
|
rs1231920444
|
0.00001
|
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg)
|
rs753317302
|
0.00001
|
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg)
|
rs898026035
|
0.00001
|
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys)
|
rs745941308
|
0.00001
|
NM_173660.5(DOK7):c.1401T>C (p.Pro467=)
|
rs764419050
|
0.00001
|
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser)
|
rs764872565
|
0.00001
|
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu)
|
rs535473251
|
0.00001
|
NM_173660.5(DOK7):c.1443C>T (p.His481=)
|
rs749462644
|
0.00001
|
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)
|
rs773592493
|
0.00001
|
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu)
|
rs761289689
|
0.00001
|
NM_173660.5(DOK7):c.1452A>G (p.Pro484=)
|
rs1462346774
|
0.00001
|
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu)
|
rs773679215
|
0.00001
|
NM_173660.5(DOK7):c.1482C>T (p.Val494=)
|
rs771501211
|
0.00001
|
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter)
|
rs1219587536
|
0.00001
|
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg)
|
rs1189551686
|
0.00001
|
NM_173660.5(DOK7):c.151C>A (p.Leu51Met)
|
rs761336523
|
0.00001
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys)
|
rs1024410823
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu)
|
rs376659660
|
0.00001
|
NM_173660.5(DOK7):c.386C>T (p.Ala129Val)
|
rs1158650422
|
0.00001
|
NM_173660.5(DOK7):c.408T>C (p.Asp136=)
|
rs1219485664
|
0.00001
|
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile)
|
rs747942116
|
0.00001
|
NM_173660.5(DOK7):c.415G>A (p.Val139Ile)
|
rs571769859
|
0.00001
|
NM_173660.5(DOK7):c.429C>T (p.Asp143=)
|
rs747023250
|
0.00001
|
NM_173660.5(DOK7):c.436C>T (p.Pro146Ser)
|
rs1727094027
|
0.00001
|
NM_173660.5(DOK7):c.438G>C (p.Pro146=)
|
rs776760690
|
0.00001
|
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr)
|
rs1362167631
|
0.00001
|
NM_173660.5(DOK7):c.460C>G (p.Leu154Val)
|
rs775014794
|
0.00001
|
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp)
|
rs753436594
|
0.00001
|
NM_173660.5(DOK7):c.476G>A (p.Arg159His)
|
rs1485585052
|
0.00001
|
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg)
|
rs758131044
|
0.00001
|
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser)
|
rs142756576
|
0.00001
|
NM_173660.5(DOK7):c.495C>T (p.Ser165=)
|
rs1405222108
|
0.00001
|
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg)
|
rs781227659
|
0.00001
|
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln)
|
rs1726073976
|
0.00001
|
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg)
|
rs768892432
|
0.00001
|
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys)
|
rs1388813398
|
0.00001
|
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn)
|
rs760505816
|
0.00001
|
NM_173660.5(DOK7):c.579C>T (p.Ser193=)
|
rs766358840
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
NM_173660.5(DOK7):c.598G>A (p.Val200Ile)
|
rs1388192187
|
0.00001
|
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln)
|
rs1339181692
|
0.00001
|
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro)
|
rs553985062
|
0.00001
|
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser)
|
rs1301546614
|
0.00001
|
NM_173660.5(DOK7):c.652+5G>A
|
rs772918388
|
0.00001
|
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala)
|
rs956613882
|
0.00001
|
NM_173660.5(DOK7):c.663C>G (p.Pro221=)
|
rs914998338
|
0.00001
|
NM_173660.5(DOK7):c.666G>A (p.Pro222=)
|
rs756895721
|
0.00001
|
NM_173660.5(DOK7):c.675G>A (p.Ser225=)
|
rs780065823
|
0.00001
|
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala)
|
rs1447016347
|
0.00001
|
NM_173660.5(DOK7):c.691G>A (p.Val231Met)
|
rs369297851
|
0.00001
|
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg)
|
rs1023898774
|
0.00001
|
NM_173660.5(DOK7):c.759G>A (p.Arg253=)
|
rs759824901
|
0.00001
|
NM_173660.5(DOK7):c.762G>A (p.Pro254=)
|
rs763623892
|
0.00001
|
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly)
|
rs750004938
|
0.00001
|
NM_173660.5(DOK7):c.772+9G>A
|
rs778823411
|
0.00001
|
NM_173660.5(DOK7):c.849A>G (p.Ala283=)
|
rs756234763
|
0.00001
|
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile)
|
rs767303929
|
0.00001
|
NM_173660.5(DOK7):c.945A>C (p.Ser315=)
|
rs757723197
|
0.00001
|
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly)
|
rs898373845
|
0.00001
|
NM_198576.4(AGRN):c.1009A>G (p.Thr337Ala)
|
rs761043248
|
0.00001
|
NM_198576.4(AGRN):c.1036C>T (p.Pro346Ser)
|
rs879928015
|
0.00001
|
NM_198576.4(AGRN):c.1038C>T (p.Pro346=)
|
rs768351523
|
0.00001
|
NM_198576.4(AGRN):c.1061C>T (p.Ala354Val)
|
rs759676959
|
0.00001
|
NM_198576.4(AGRN):c.1062G>A (p.Ala354=)
|
rs765349974
|
0.00001
|
NM_198576.4(AGRN):c.1089C>T (p.Thr363=)
|
rs779950946
|
0.00001
|
NM_198576.4(AGRN):c.1101C>G (p.Asp367Glu)
|
rs754488616
|
0.00001
|
NM_198576.4(AGRN):c.1113C>A (p.Gly371=)
|
rs771600667
|
0.00001
|
NM_198576.4(AGRN):c.1126G>A (p.Ala376Thr)
|
rs1455286726
|
0.00001
|
NM_198576.4(AGRN):c.1137C>T (p.Leu379=)
|
rs1404751859
|
0.00001
|
NM_198576.4(AGRN):c.1159G>A (p.Gly387Ser)
|
rs1644943642
|
0.00001
|
NM_198576.4(AGRN):c.1177+12C>T
|
rs1213787315
|
0.00001
|
NM_198576.4(AGRN):c.1177+15C>T
|
rs770405970
|
0.00001
|
NM_198576.4(AGRN):c.1178A>G (p.Asp393Gly)
|
rs1251468066
|
0.00001
|
NM_198576.4(AGRN):c.1185C>T (p.Cys395=)
|
rs1644954742
|
0.00001
|
NM_198576.4(AGRN):c.1221C>A (p.Ser407=)
|
rs1290178251
|
0.00001
|
NM_198576.4(AGRN):c.1222C>T (p.Arg408Cys)
|
rs775310667
|
0.00001
|
NM_198576.4(AGRN):c.1249G>A (p.Asp417Asn)
|
rs148420980
|
0.00001
|
NM_198576.4(AGRN):c.1258A>G (p.Thr420Ala)
|
rs777791014
|
0.00001
|
NM_198576.4(AGRN):c.1266C>T (p.Asp422=)
|
rs771165998
|
0.00001
|
NM_198576.4(AGRN):c.1384+12G>A
|
rs750678456
|
0.00001
|
NM_198576.4(AGRN):c.1405C>T (p.Leu469Phe)
|
rs752078908
|
0.00001
|
NM_198576.4(AGRN):c.1410G>A (p.Gly470=)
|
rs371755962
|
0.00001
|
NM_198576.4(AGRN):c.1427G>C (p.Gly476Ala)
|
rs986280294
|
0.00001
|
NM_198576.4(AGRN):c.1479G>A (p.Ala493=)
|
rs756019159
|
0.00001
|
NM_198576.4(AGRN):c.1500T>C (p.Pro500=)
|
rs373770321
|
0.00001
|
NM_198576.4(AGRN):c.1512C>T (p.Ser504=)
|
rs527601442
|
0.00001
|
NM_198576.4(AGRN):c.1527C>T (p.Tyr509=)
|
rs766287924
|
0.00001
|
NM_198576.4(AGRN):c.1580A>C (p.Gln527Pro)
|
rs1489534034
|
0.00001
|
NM_198576.4(AGRN):c.1603+9C>T
|
rs529318022
|
0.00001
|
NM_198576.4(AGRN):c.1606C>T (p.Arg536Cys)
|
rs745663789
|
0.00001
|
NM_198576.4(AGRN):c.167A>G (p.Asn56Ser)
|
rs1316890507
|
0.00001
|
NM_198576.4(AGRN):c.1685T>C (p.Leu562Ser)
|
rs771414620
|
0.00001
|
NM_198576.4(AGRN):c.1708G>A (p.Asp570Asn)
|
rs374232667
|
0.00001
|
NM_198576.4(AGRN):c.1719G>A (p.Thr573=)
|
rs150246085
|
0.00001
|
NM_198576.4(AGRN):c.1721A>T (p.Tyr574Phe)
|
rs749074796
|
0.00001
|
NM_198576.4(AGRN):c.1724C>G (p.Pro575Arg)
|
rs1645009481
|
0.00001
|
NM_198576.4(AGRN):c.1796G>A (p.Cys599Tyr)
|
rs1277483777
|
0.00001
|
NM_198576.4(AGRN):c.1798G>A (p.Glu600Lys)
|
rs1310138293
|
0.00001
|
NM_198576.4(AGRN):c.1814C>T (p.Ala605Val)
|
rs1038802664
|
0.00001
|
NM_198576.4(AGRN):c.1841C>T (p.Ser614Phe)
|
rs202090219
|
0.00001
|
NM_198576.4(AGRN):c.1843G>A (p.Ala615Thr)
|
rs762357955
|
0.00001
|
NM_198576.4(AGRN):c.1855G>A (p.Val619Met)
|
rs761043604
|
0.00001
|
NM_198576.4(AGRN):c.1891G>A (p.Val631Met)
|
rs748716996
|
0.00001
|
NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser)
|
rs1042435801
|
0.00001
|
NM_198576.4(AGRN):c.1918G>A (p.Gly640Ser)
|
rs759762952
|
0.00001
|
NM_198576.4(AGRN):c.1926C>T (p.Ala642=)
|
rs1412601608
|
0.00001
|
NM_198576.4(AGRN):c.1947C>T (p.Ala649=)
|
rs1645019966
|
0.00001
|
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp)
|
rs534519250
|
0.00001
|
NM_198576.4(AGRN):c.1999+14C>T
|
rs781183868
|
0.00001
|
NM_198576.4(AGRN):c.1999+6C>G
|
rs747508825
|
0.00001
|
NM_198576.4(AGRN):c.2000-4G>A
|
rs371316293
|
0.00001
|
NM_198576.4(AGRN):c.2000-5C>T
|
rs757769063
|
0.00001
|
NM_198576.4(AGRN):c.2001C>T (p.Ala667=)
|
rs756204860
|
0.00001
|
NM_198576.4(AGRN):c.2006G>A (p.Cys669Tyr)
|
rs1196333702
|
0.00001
|
NM_198576.4(AGRN):c.201+4C>A
|
rs1313469026
|
0.00001
|
NM_198576.4(AGRN):c.202-17C>T
|
rs1036873472
|
0.00001
|
NM_198576.4(AGRN):c.2037C>T (p.Asp679=)
|
rs780169210
|
0.00001
|
NM_198576.4(AGRN):c.2063G>A (p.Arg688Gln)
|
rs780817353
|
0.00001
|
NM_198576.4(AGRN):c.2134G>A (p.Val712Ile)
|
rs745652394
|
0.00001
|
NM_198576.4(AGRN):c.2142C>G (p.Gly714=)
|
rs372705597
|
0.00001
|
NM_198576.4(AGRN):c.2220A>T (p.Arg740=)
|
rs746221151
|
0.00001
|
NM_198576.4(AGRN):c.2223G>C (p.Gly741=)
|
rs763474149
|
0.00001
|
NM_198576.4(AGRN):c.2245G>A (p.Ala749Thr)
|
rs1278297283
|
0.00001
|
NM_198576.4(AGRN):c.2254+20G>A
|
rs749805082
|
0.00001
|
NM_198576.4(AGRN):c.2254+8G>A
|
rs779212624
|
0.00001
|
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu)
|
rs1214623286
|
0.00001
|
NM_198576.4(AGRN):c.2291T>C (p.Leu764Ser)
|
rs766070520
|
0.00001
|
NM_198576.4(AGRN):c.2300C>T (p.Ala767Val)
|
rs1384713725
|
0.00001
|
NM_198576.4(AGRN):c.2307G>A (p.Thr769=)
|
rs1475721760
|
0.00001
|
NM_198576.4(AGRN):c.2329A>C (p.Asn777His)
|
rs777783441
|
0.00001
|
NM_198576.4(AGRN):c.2344C>T (p.Arg782Trp)
|
rs1224886218
|
0.00001
|
NM_198576.4(AGRN):c.2355C>T (p.Gly785=)
|
rs1447389396
|
0.00001
|
NM_198576.4(AGRN):c.2356C>G (p.Leu786Val)
|
rs761794267
|
0.00001
|
NM_198576.4(AGRN):c.2371+11G>A
|
rs369036771
|
0.00001
|
NM_198576.4(AGRN):c.2390C>G (p.Pro797Arg)
|
rs770988590
|
0.00001
|
NM_198576.4(AGRN):c.2426C>T (p.Thr809Ile)
|
rs1366119256
|
0.00001
|
NM_198576.4(AGRN):c.2456G>A (p.Gly819Glu)
|
rs202021682
|
0.00001
|
NM_198576.4(AGRN):c.246G>A (p.Arg82=)
|
rs1408540234
|
0.00001
|
NM_198576.4(AGRN):c.2495A>G (p.Asn832Ser)
|
rs761152280
|
0.00001
|
NM_198576.4(AGRN):c.2499T>C (p.Phe833=)
|
rs753858864
|
0.00001
|
NM_198576.4(AGRN):c.2522G>A (p.Arg841Gln)
|
rs756103278
|
0.00001
|
NM_198576.4(AGRN):c.2536+13G>A
|
rs761238201
|
0.00001
|
NM_198576.4(AGRN):c.2575T>C (p.Cys859Arg)
|
rs768805007
|
0.00001
|
NM_198576.4(AGRN):c.2589G>A (p.Thr863=)
|
rs776485359
|
0.00001
|
NM_198576.4(AGRN):c.2617G>T (p.Ala873Ser)
|
rs1645074389
|
0.00001
|
NM_198576.4(AGRN):c.2659G>T (p.Gly887Cys)
|
rs373631709
|
0.00001
|
NM_198576.4(AGRN):c.2662C>T (p.Pro888Ser)
|
rs560184470
|
0.00001
|
NM_198576.4(AGRN):c.2680+17G>A
|
rs747171342
|
0.00001
|
NM_198576.4(AGRN):c.2680+6T>C
|
rs748272401
|
0.00001
|
NM_198576.4(AGRN):c.2681-9G>A
|
rs749091157
|
0.00001
|
NM_198576.4(AGRN):c.2691G>A (p.Ala897=)
|
rs760197095
|
0.00001
|
NM_198576.4(AGRN):c.2705C>T (p.Ala902Val)
|
rs753492233
|
0.00001
|
NM_198576.4(AGRN):c.2714G>A (p.Arg905His)
|
rs751639799
|
0.00001
|
NM_198576.4(AGRN):c.2731C>T (p.Arg911Trp)
|
rs200642681
|
0.00001
|
NM_198576.4(AGRN):c.2736C>T (p.Cys912=)
|
rs141587982
|
0.00001
|
NM_198576.4(AGRN):c.2806-12T>C
|
rs1570221858
|
0.00001
|
NM_198576.4(AGRN):c.2833G>C (p.Gly945Arg)
|
rs911274904
|
0.00001
|
NM_198576.4(AGRN):c.2848C>T (p.Leu950=)
|
rs368017102
|
0.00001
|
NM_198576.4(AGRN):c.2860G>A (p.Ala954Thr)
|
rs775642947
|
0.00001
|
NM_198576.4(AGRN):c.2867G>A (p.Arg956His)
|
rs757057339
|
0.00001
|
NM_198576.4(AGRN):c.2898G>A (p.Leu966=)
|
rs778480989
|
0.00001
|
NM_198576.4(AGRN):c.2903C>T (p.Pro968Leu)
|
rs772386655
|
0.00001
|
NM_198576.4(AGRN):c.2913G>A (p.Glu971=)
|
rs1372362266
|
0.00001
|
NM_198576.4(AGRN):c.2966C>T (p.Pro989Leu)
|
rs1465399788
|
0.00001
|
NM_198576.4(AGRN):c.3004G>A (p.Gly1002Ser)
|
rs757677789
|
0.00001
|
NM_198576.4(AGRN):c.3050C>T (p.Thr1017Ile)
|
rs1224006799
|
0.00001
|
NM_198576.4(AGRN):c.3086G>A (p.Ser1029Asn)
|
rs761318596
|
0.00001
|
NM_198576.4(AGRN):c.3087C>T (p.Ser1029=)
|
rs767290327
|
0.00001
|
NM_198576.4(AGRN):c.3088G>A (p.Val1030Ile)
|
rs199933532
|
0.00001
|
NM_198576.4(AGRN):c.3103G>A (p.Val1035Met)
|
rs756015484
|
0.00001
|
NM_198576.4(AGRN):c.3111C>T (p.Pro1037=)
|
rs755437030
|
0.00001
|
NM_198576.4(AGRN):c.3152G>A (p.Ser1051Asn)
|
rs1014335796
|
0.00001
|
NM_198576.4(AGRN):c.3153C>G (p.Ser1051Arg)
|
rs1367992401
|
0.00001
|
NM_198576.4(AGRN):c.3185G>A (p.Ser1062Asn)
|
rs751833707
|
0.00001
|
NM_198576.4(AGRN):c.3234T>C (p.Ser1078=)
|
rs777419195
|
0.00001
|
NM_198576.4(AGRN):c.3236G>T (p.Gly1079Val)
|
rs1399398380
|
0.00001
|
NM_198576.4(AGRN):c.3243C>T (p.Gly1081=)
|
rs746454531
|
0.00001
|
NM_198576.4(AGRN):c.3250+1G>A
|
rs759853904
|
0.00001
|
NM_198576.4(AGRN):c.3251-10G>A
|
rs368963266
|
0.00001
|
NM_198576.4(AGRN):c.3251-12G>A
|
rs1275988882
|
0.00001
|
NM_198576.4(AGRN):c.3255C>T (p.Leu1085=)
|
rs775823409
|
0.00001
|
NM_198576.4(AGRN):c.3267G>A (p.Glu1089=)
|
rs1423533978
|
0.00001
|
NM_198576.4(AGRN):c.3277G>A (p.Val1093Met)
|
rs572261141
|
0.00001
|
NM_198576.4(AGRN):c.3296C>T (p.Pro1099Leu)
|
rs564170089
|
0.00001
|
NM_198576.4(AGRN):c.3325G>A (p.Ala1109Thr)
|
rs1221116957
|
0.00001
|
NM_198576.4(AGRN):c.3328T>C (p.Leu1110=)
|
rs1297179716
|
0.00001
|
NM_198576.4(AGRN):c.3348G>A (p.Gly1116=)
|
rs139977979
|
0.00001
|
NM_198576.4(AGRN):c.3360G>A (p.Ser1120=)
|
rs772110038
|
0.00001
|
NM_198576.4(AGRN):c.3365A>G (p.Asp1122Gly)
|
rs1048772741
|
0.00001
|
NM_198576.4(AGRN):c.3402C>A (p.Phe1134Leu)
|
rs1250886116
|
0.00001
|
NM_198576.4(AGRN):c.3416A>C (p.Glu1139Ala)
|
rs758652107
|
0.00001
|
NM_198576.4(AGRN):c.3438G>A (p.Gln1146=)
|
rs761696738
|
0.00001
|
NM_198576.4(AGRN):c.3454C>T (p.Pro1152Ser)
|
rs760592311
|
0.00001
|
NM_198576.4(AGRN):c.3517-18G>C
|
rs886429179
|
0.00001
|
NM_198576.4(AGRN):c.3517C>T (p.Leu1173=)
|
rs756576195
|
0.00001
|
NM_198576.4(AGRN):c.3523G>A (p.Asp1175Asn)
|
rs571230424
|
0.00001
|
NM_198576.4(AGRN):c.3526C>G (p.Leu1176Val)
|
rs1361747412
|
0.00001
|
NM_198576.4(AGRN):c.3546C>T (p.Val1182=)
|
rs1557712957
|
0.00001
|
NM_198576.4(AGRN):c.356C>T (p.Pro119Leu)
|
rs760057776
|
0.00001
|
NM_198576.4(AGRN):c.358G>C (p.Ala120Pro)
|
rs765443053
|
0.00001
|
NM_198576.4(AGRN):c.3601C>T (p.Arg1201Cys)
|
rs763762094
|
0.00001
|
NM_198576.4(AGRN):c.3603C>T (p.Arg1201=)
|
rs749229259
|
0.00001
|
NM_198576.4(AGRN):c.3607A>G (p.Ile1203Val)
|
rs778562449
|
0.00001
|
NM_198576.4(AGRN):c.3635C>T (p.Thr1212Ile)
|
rs1470278093
|
0.00001
|
NM_198576.4(AGRN):c.364C>G (p.Pro122Ala)
|
rs1445429136
|
0.00001
|
NM_198576.4(AGRN):c.3651C>T (p.Pro1217=)
|
rs777055497
|
0.00001
|
NM_198576.4(AGRN):c.3661C>T (p.Arg1221Trp)
|
rs374345060
|
0.00001
|
NM_198576.4(AGRN):c.3693G>A (p.Arg1231=)
|
rs1356719781
|
0.00001
|
NM_198576.4(AGRN):c.3721C>A (p.Leu1241Met)
|
rs202194761
|
0.00001
|
NM_198576.4(AGRN):c.3737G>A (p.Arg1246Gln)
|
rs1047444673
|
0.00001
|
NM_198576.4(AGRN):c.3750T>C (p.Phe1250=)
|
rs138818746
|
0.00001
|
NM_198576.4(AGRN):c.3751+19G>A
|
rs779240198
|
0.00001
|
NM_198576.4(AGRN):c.3762T>C (p.Pro1254=)
|
rs1645150923
|
0.00001
|
NM_198576.4(AGRN):c.3783G>A (p.Thr1261=)
|
rs376408361
|
0.00001
|
NM_198576.4(AGRN):c.3809C>T (p.Thr1270Met)
|
rs779140262
|
0.00001
|
NM_198576.4(AGRN):c.3834C>T (p.Arg1278=)
|
rs768567036
|
0.00001
|
NM_198576.4(AGRN):c.3840G>A (p.Pro1280=)
|
rs768974182
|
0.00001
|
NM_198576.4(AGRN):c.3856C>A (p.Pro1286Thr)
|
rs760218476
|
0.00001
|
NM_198576.4(AGRN):c.3859C>T (p.Arg1287Trp)
|
rs776411371
|
0.00001
|
NM_198576.4(AGRN):c.3860G>A (p.Arg1287Gln)
|
rs1236736432
|
0.00001
|
NM_198576.4(AGRN):c.3892G>A (p.Val1298Ile)
|
rs963483105
|
0.00001
|
NM_198576.4(AGRN):c.391G>A (p.Glu131Lys)
|
rs746643534
|
0.00001
|
NM_198576.4(AGRN):c.3961C>T (p.Arg1321Cys)
|
rs1483197613
|
0.00001
|
NM_198576.4(AGRN):c.4066A>C (p.Ser1356Arg)
|
rs753847571
|
0.00001
|
NM_198576.4(AGRN):c.4074G>A (p.Pro1358=)
|
rs779057526
|
0.00001
|
NM_198576.4(AGRN):c.410G>T (p.Ser137Ile)
|
rs376542441
|
0.00001
|
NM_198576.4(AGRN):c.4114G>A (p.Ala1372Thr)
|
rs376441344
|
0.00001
|
NM_198576.4(AGRN):c.4165C>T (p.Arg1389Cys)
|
rs775753706
|
0.00001
|
NM_198576.4(AGRN):c.419G>A (p.Arg140Gln)
|
rs760191021
|
0.00001
|
NM_198576.4(AGRN):c.4201C>T (p.Arg1401Trp)
|
rs758090504
|
0.00001
|
NM_198576.4(AGRN):c.4205C>T (p.Ala1402Val)
|
rs747440725
|
0.00001
|
NM_198576.4(AGRN):c.4221G>A (p.Gly1407=)
|
rs770216741
|
0.00001
|
NM_198576.4(AGRN):c.4233C>T (p.Tyr1411=)
|
rs147664394
|
0.00001
|
NM_198576.4(AGRN):c.4261C>T (p.Leu1421=)
|
rs1192631612
|
0.00001
|
NM_198576.4(AGRN):c.4267T>C (p.Leu1423=)
|
rs752281378
|
0.00001
|
NM_198576.4(AGRN):c.4271C>T (p.Ala1424Val)
|
rs777530290
|
0.00001
|
NM_198576.4(AGRN):c.4299-11C>T
|
rs1434434568
|
0.00001
|
NM_198576.4(AGRN):c.4299-6C>T
|
rs1449412827
|
0.00001
|
NM_198576.4(AGRN):c.4337C>T (p.Ala1446Val)
|
rs1027231298
|
0.00001
|
NM_198576.4(AGRN):c.435C>A (p.Asn145Lys)
|
rs752866873
|
0.00001
|
NM_198576.4(AGRN):c.4386C>T (p.His1462=)
|
rs1158934281
|
0.00001
|
NM_198576.4(AGRN):c.4394G>A (p.Arg1465Gln)
|
rs371697818
|
0.00001
|
NM_198576.4(AGRN):c.4395G>C (p.Arg1465=)
|
rs766000174
|
0.00001
|
NM_198576.4(AGRN):c.4407G>A (p.Ser1469=)
|
rs1292243937
|
0.00001
|
NM_198576.4(AGRN):c.441G>A (p.Glu147=)
|
rs763121838
|
0.00001
|
NM_198576.4(AGRN):c.4435G>A (p.Glu1479Lys)
|
rs201142052
|
0.00001
|
NM_198576.4(AGRN):c.4470C>T (p.Asp1490=)
|
rs547462192
|
0.00001
|
NM_198576.4(AGRN):c.4473A>C (p.Thr1491=)
|
rs763563403
|
0.00001
|
NM_198576.4(AGRN):c.4491C>T (p.Gly1497=)
|
rs1006659162
|
0.00001
|
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu)
|
rs770460630
|
0.00001
|
NM_198576.4(AGRN):c.4512C>T (p.Ala1504=)
|
rs759230236
|
0.00001
|
NM_198576.4(AGRN):c.4612G>T (p.Ala1538Ser)
|
rs775550619
|
0.00001
|
NM_198576.4(AGRN):c.463+18C>T
|
rs376022027
|
0.00001
|
NM_198576.4(AGRN):c.463+4C>T
|
rs1644427555
|
0.00001
|
NM_198576.4(AGRN):c.463+5G>A
|
rs779919649
|
0.00001
|
NM_198576.4(AGRN):c.4645G>A (p.Gly1549Arg)
|
rs758000357
|
0.00001
|
NM_198576.4(AGRN):c.4660C>T (p.Leu1554=)
|
rs1463712199
|
0.00001
|
NM_198576.4(AGRN):c.4669C>G (p.Pro1557Ala)
|
rs1477877933
|
0.00001
|
NM_198576.4(AGRN):c.4670C>T (p.Pro1557Leu)
|
rs1189874293
|
0.00001
|
NM_198576.4(AGRN):c.4680C>T (p.Gly1560=)
|
rs763091420
|
0.00001
|
NM_198576.4(AGRN):c.4725G>A (p.Gln1575=)
|
rs763693142
|
0.00001
|
NM_198576.4(AGRN):c.4728C>T (p.Cys1576=)
|
rs931498089
|
0.00001
|
NM_198576.4(AGRN):c.472G>A (p.Gly158Arg)
|
rs764956867
|
0.00001
|
NM_198576.4(AGRN):c.4730C>T (p.Pro1577Leu)
|
rs1271577167
|
0.00001
|
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)
|
rs1367262797
|
0.00001
|
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val)
|
rs370833536
|
0.00001
|
NM_198576.4(AGRN):c.4800G>A (p.Ala1600=)
|
rs369164916
|
0.00001
|
NM_198576.4(AGRN):c.4805C>T (p.Pro1602Leu)
|
rs935763466
|
0.00001
|
NM_198576.4(AGRN):c.4822G>A (p.Glu1608Lys)
|
rs770435802
|
0.00001
|
NM_198576.4(AGRN):c.4827T>C (p.Gly1609=)
|
rs759945596
|
0.00001
|
NM_198576.4(AGRN):c.4838G>A (p.Cys1613Tyr)
|
rs1347129558
|
0.00001
|
NM_198576.4(AGRN):c.483C>T (p.Phe161=)
|
rs192831476
|
0.00001
|
NM_198576.4(AGRN):c.4847C>T (p.Pro1616Leu)
|
rs764238368
|
0.00001
|
NM_198576.4(AGRN):c.4879+13G>A
|
rs1426872282
|
0.00001
|
NM_198576.4(AGRN):c.4879+16C>T
|
rs1370470031
|
0.00001
|
NM_198576.4(AGRN):c.4879+8G>A
|
rs1410342207
|
0.00001
|
NM_198576.4(AGRN):c.4904C>A (p.Pro1635His)
|
rs145341123
|
0.00001
|
NM_198576.4(AGRN):c.4916A>G (p.Asp1639Gly)
|
rs532777950
|
0.00001
|
NM_198576.4(AGRN):c.4939G>C (p.Glu1647Gln)
|
rs1404128392
|
0.00001
|
NM_198576.4(AGRN):c.4956C>T (p.His1652=)
|
rs1365687266
|
0.00001
|
NM_198576.4(AGRN):c.4988C>T (p.Ala1663Val)
|
rs753922672
|
0.00001
|
NM_198576.4(AGRN):c.49C>T (p.Leu17Phe)
|
rs1057523287
|
0.00001
|
NM_198576.4(AGRN):c.500C>T (p.Thr167Met)
|
rs745711705
|
0.00001
|
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)
|
rs764160563
|
0.00001
|
NM_198576.4(AGRN):c.5055C>T (p.Asp1685=)
|
rs766955342
|
0.00001
|
NM_198576.4(AGRN):c.5087G>A (p.Arg1696Gln)
|
rs202223206
|
0.00001
|
NM_198576.4(AGRN):c.5091C>T (p.Asp1697=)
|
rs1354093526
|
0.00001
|
NM_198576.4(AGRN):c.5097C>T (p.Arg1699=)
|
rs1401109891
|
0.00001
|
NM_198576.4(AGRN):c.5142-19C>T
|
rs370941734
|
0.00001
|
NM_198576.4(AGRN):c.5147G>A (p.Arg1716Lys)
|
rs1485164787
|
0.00001
|
NM_198576.4(AGRN):c.5160C>T (p.Thr1720=)
|
rs758276484
|
0.00001
|
NM_198576.4(AGRN):c.5163G>T (p.Leu1721=)
|
rs146855689
|
0.00001
|
NM_198576.4(AGRN):c.5173A>G (p.Thr1725Ala)
|
rs1222963458
|
0.00001
|
NM_198576.4(AGRN):c.5197G>A (p.Gly1733Ser)
|
rs746321629
|
0.00001
|
NM_198576.4(AGRN):c.5215C>T (p.Arg1739Cys)
|
rs1361084400
|
0.00001
|
NM_198576.4(AGRN):c.5252C>T (p.Pro1751Leu)
|
rs756986183
|
0.00001
|
NM_198576.4(AGRN):c.5253+7G>A
|
rs767071621
|
0.00001
|
NM_198576.4(AGRN):c.5254-8C>T
|
rs369911069
|
0.00001
|
NM_198576.4(AGRN):c.5265C>T (p.Thr1755=)
|
rs773071527
|
0.00001
|
NM_198576.4(AGRN):c.528G>C (p.Leu176=)
|
rs1045582777
|
0.00001
|
NM_198576.4(AGRN):c.5293G>A (p.Val1765Ile)
|
rs369850742
|
0.00001
|
NM_198576.4(AGRN):c.5299G>T (p.Gly1767Cys)
|
rs1426112549
|
0.00001
|
NM_198576.4(AGRN):c.5300G>A (p.Gly1767Asp)
|
rs143031281
|
0.00001
|
NM_198576.4(AGRN):c.5368C>G (p.Leu1790Val)
|
rs1339779014
|
0.00001
|
NM_198576.4(AGRN):c.5371-5T>C
|
rs1361101124
|
0.00001
|
NM_198576.4(AGRN):c.5380G>A (p.Gly1794Arg)
|
rs374148623
|
0.00001
|
NM_198576.4(AGRN):c.5385C>T (p.Gly1795=)
|
rs1375097481
|
0.00001
|
NM_198576.4(AGRN):c.5413C>T (p.Leu1805=)
|
rs751461791
|
0.00001
|
NM_198576.4(AGRN):c.5467G>A (p.Gly1823Ser)
|
rs755865580
|
0.00001
|
NM_198576.4(AGRN):c.54G>C (p.Val18=)
|
rs901063398
|
0.00001
|
NM_198576.4(AGRN):c.5502G>A (p.Pro1834=)
|
rs371302168
|
0.00001
|
NM_198576.4(AGRN):c.5505G>C (p.Arg1835Ser)
|
rs760016457
|
0.00001
|
NM_198576.4(AGRN):c.5513C>A (p.Ala1838Asp)
|
rs376270407
|
0.00001
|
NM_198576.4(AGRN):c.5557G>A (p.Glu1853Lys)
|
rs754858398
|
0.00001
|
NM_198576.4(AGRN):c.5564-9A>G
|
rs1645298070
|
0.00001
|
NM_198576.4(AGRN):c.5582C>T (p.Ala1861Val)
|
rs138113721
|
0.00001
|
NM_198576.4(AGRN):c.5610C>T (p.Asp1870=)
|
rs376066449
|
0.00001
|
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg)
|
rs763818876
|
0.00001
|
NM_198576.4(AGRN):c.5629T>G (p.Tyr1877Asp)
|
rs755383095
|
0.00001
|
NM_198576.4(AGRN):c.5646C>T (p.Thr1882=)
|
rs577578019
|
0.00001
|
NM_198576.4(AGRN):c.5652C>T (p.Ser1884=)
|
rs777830736
|
0.00001
|
NM_198576.4(AGRN):c.5705C>T (p.Thr1902Met)
|
rs775047750
|
0.00001
|
NM_198576.4(AGRN):c.575G>T (p.Arg192Leu)
|
rs1319735888
|
0.00001
|
NM_198576.4(AGRN):c.5776G>A (p.Gly1926Arg)
|
rs761747211
|
0.00001
|
NM_198576.4(AGRN):c.5778G>A (p.Gly1926=)
|
rs767514639
|
0.00001
|
NM_198576.4(AGRN):c.5811G>A (p.Gln1937=)
|
rs1212454305
|
0.00001
|
NM_198576.4(AGRN):c.5815G>A (p.Val1939Met)
|
rs753560167
|
0.00001
|
NM_198576.4(AGRN):c.5825G>A (p.Arg1942His)
|
rs758968975
|
0.00001
|
NM_198576.4(AGRN):c.5833G>A (p.Val1945Met)
|
rs145079121
|
0.00001
|
NM_198576.4(AGRN):c.5851C>T (p.Arg1951Cys)
|
rs746117937
|
0.00001
|
NM_198576.4(AGRN):c.5865C>T (p.Val1955=)
|
rs763082192
|
0.00001
|
NM_198576.4(AGRN):c.5876+19G>A
|
rs201545296
|
0.00001
|
NM_198576.4(AGRN):c.5876+9G>A
|
rs772517259
|
0.00001
|
NM_198576.4(AGRN):c.5944G>A (p.Ala1982Thr)
|
rs768666839
|
0.00001
|
NM_198576.4(AGRN):c.597G>A (p.Lys199=)
|
rs772146272
|
0.00001
|
NM_198576.4(AGRN):c.5980+11T>C
|
rs140676931
|
0.00001
|
NM_198576.4(AGRN):c.5991G>A (p.Pro1997=)
|
rs773508939
|
0.00001
|
NM_198576.4(AGRN):c.5995C>A (p.Leu1999Met)
|
rs868724036
|
0.00001
|
NM_198576.4(AGRN):c.6000C>T (p.Pro2000=)
|
rs769653766
|
0.00001
|
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met)
|
rs775422356
|
0.00001
|
NM_198576.4(AGRN):c.6005G>T (p.Gly2002Val)
|
rs768333859
|
0.00001
|
NM_198576.4(AGRN):c.6008C>G (p.Pro2003Arg)
|
rs773915738
|
0.00001
|
NM_198576.4(AGRN):c.6024C>T (p.Ala2008=)
|
rs1182389812
|
0.00001
|
NM_198576.4(AGRN):c.6028G>A (p.Gly2010Ser)
|
rs1166737018
|
0.00001
|
NM_198576.4(AGRN):c.602C>T (p.Pro201Leu)
|
rs547205625
|
0.00001
|
NM_198576.4(AGRN):c.6053G>A (p.Arg2018Gln)
|
rs766936338
|
0.00001
|
NM_198576.4(AGRN):c.6096C>T (p.Asp2032=)
|
rs544753386
|
0.00001
|
NM_198576.4(AGRN):c.6122C>T (p.Pro2041Leu)
|
rs1393300336
|
0.00001
|
NM_198576.4(AGRN):c.651C>T (p.Tyr217=)
|
rs1235929400
|
0.00001
|
NM_198576.4(AGRN):c.664G>A (p.Glu222Lys)
|
rs1242198480
|
0.00001
|
NM_198576.4(AGRN):c.686G>A (p.Ser229Asn)
|
rs1284515586
|
0.00001
|
NM_198576.4(AGRN):c.68T>G (p.Val23Gly)
|
rs1262975758
|
0.00001
|
NM_198576.4(AGRN):c.708G>A (p.Leu236=)
|
rs755871141
|
0.00001
|
NM_198576.4(AGRN):c.727+7G>C
|
rs772521361
|
0.00001
|
NM_198576.4(AGRN):c.728-8G>T
|
rs1172674191
|
0.00001
|
NM_198576.4(AGRN):c.76G>A (p.Gly26Arg)
|
rs1185534330
|
0.00001
|
NM_198576.4(AGRN):c.794G>A (p.Gly265Glu)
|
rs1453117775
|
0.00001
|
NM_198576.4(AGRN):c.829C>T (p.Arg277Cys)
|
rs1256837701
|
0.00001
|
NM_198576.4(AGRN):c.838C>T (p.Pro280Ser)
|
rs772190345
|
0.00001
|
NM_198576.4(AGRN):c.849C>T (p.Thr283=)
|
rs1405014962
|
0.00001
|
NM_198576.4(AGRN):c.894C>T (p.Leu298=)
|
rs1251452652
|
0.00001
|
NM_198576.4(AGRN):c.904G>A (p.Ala302Thr)
|
rs1318084676
|
0.00001
|
NM_198576.4(AGRN):c.933G>A (p.Lys311=)
|
rs781177256
|
0.00001
|
NM_198576.4(AGRN):c.952+20C>T
|
rs749460152
|
0.00001
|
NC_000001.10:g.(?_95448632)_(95538454_?)dup
|
|
|
NC_000001.10:g.(?_954503)_(992499_?)del
|
|
|
NC_000001.10:g.(?_95538299)_(95538454_?)del
|
|
|
NC_000001.10:g.(?_955543)_(2238214_?)del
|
|
|
NC_000001.10:g.(?_955553)_(957862_?)dup
|
|
|
NC_000001.10:g.(?_980719)_(1168648_?)dup
|
|
|
NC_000001.10:g.(?_984596)_(990361_?)dup
|
|
|
NC_000001.11:g.(?_1020153)_(1313808_?)del
|
|
|
NC_000001.11:g.(?_1020163)_(1054991_?)dup
|
|
|
NC_000001.11:g.(?_1047317)_(1054991_?)dup
|
|
|
NC_000002.11:g.(?_108604592)_(108627337_?)dup
|
|
|
NC_000002.11:g.(?_108604612)_(108604809_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108609603_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)del
|
|
|
NC_000002.11:g.(?_108604612)_(108627317_?)dup
|
|
|
NC_000002.11:g.(?_44507855)_(44549039_?)del
|
|
|
NC_000002.11:g.(?_44527090)_(44556271_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44556271_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44569711_?)del
|
|
|
NC_000002.11:g.(?_44547318)_(44586854_?)dup
|
|
|
NC_000002.11:g.(?_44548485)_(44586864_?)dup
|
|
|
NC_000002.11:g.(?_44548495)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_44549870)_(44556251_?)del
|
|
|
NC_000002.11:g.(?_44553841)_(44566512_?)del
|
|
|
NC_000002.11:g.(?_44565470)_(44566522_?)del
|
|
|
NC_000002.11:g.(?_44565470)_(44586854_?)del
|
|
|
NC_000002.11:g.(?_44573387)_(44586854_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69597260_?)dup
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)del
|
|
|
NC_000002.11:g.(?_69553299)_(69614213_?)dup
|
|
|
NC_000002.11:g.(?_69573016)_(69575486_?)del
|
|
|
NC_000002.11:g.(?_69583608)_(69583709_?)del
|
|
|
NC_000002.11:g.(?_69597123)_(69597250_?)del
|
|
|
NC_000002.12:g.(?_107988146)_(108010871_?)dup
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)del
|
|
|
NC_000002.12:g.(?_107988146)_(108963283_?)dup
|
|
|
NC_000002.12:g.(?_44280696)_(44346410_?)del
|
|
|
NC_000002.12:g.(?_44280716)_(44346390_?)del
|
|
|
NC_000002.12:g.(?_44320179)_(44346410_?)del
|
|
|
NC_000002.12:g.(?_44321336)_(44346410_?)del
|
|
|
NC_000002.12:g.(?_44321336)_(44359735_?)del
|
|
|
NC_000002.12:g.(?_44321346)_(44359725_?)del
|
|
|
NC_000002.12:g.(?_44359487)_(44359725_?)del
|
|
|
NC_000002.12:g.(?_69363535)_(69363680_?)del
|
|
|
NC_000003.11:g.(?_15493151)_(15563132_?)dup
|
|
|
NC_000003.11:g.(?_15497396)_(15499842_?)del
|
|
|
NC_000003.12:g.(?_15451634)_(15521635_?)dup
|
|
|
NC_000004.11:g.(?_3465093)_(3495238_?)dup
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)del
|
|
|
NC_000004.11:g.(?_3465103)_(3465298_?)dup
|
|
|
NC_000004.11:g.(?_3465103)_(3495228_?)dup
|
|
|
NC_000004.11:g.(?_3494466)_(3495228_?)del
|
|
|
NC_000004.11:g.(?_3494787)_3495019dup
|
|
|
NC_000004.12:g.(?_3463366)_(3493511_?)del
|
|
|
NC_000004.12:g.(?_3473386)_(3489816_?)del
|
|
|
NC_000004.12:g.(?_3485519)_(3493521_?)del
|
|
|
NC_000004.12:g.(?_3485529)_(3485668_?)del
|
|
|
NC_000004.12:g.(?_3485529)_(3493511_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_113006437)_(113563268_?)dup
|
|
|
NC_000009.11:g.(?_113431185)_(113459766_?)dup
|
|
|
NC_000009.11:g.(?_113431185)_(113550138_?)del
|
|
|
NC_000009.11:g.(?_113431213)_(113441760_?)del
|
|
|
NC_000009.11:g.(?_113444934)_(113449568_?)del
|
|
|
NC_000009.11:g.(?_113449377)_(113457830_?)del
|
|
|
NC_000009.11:g.(?_113457663)_(113524508_?)dup
|
|
|
NC_000009.11:g.(?_113496521)_(113524498_?)dup
|
|
|
NC_000009.11:g.(?_113509901)_(113538955_?)del
|
|
|
NC_000009.12:g.(?_110668885)_(110801008_?)del
|
|
|
NC_000009.12:g.(?_110734231)_(110734395_?)del
|
|
|
NC_000010.10:g.(?_50818787)_(50824668_?)dup
|
|
|
NC_000010.10:g.(?_50818787)_(50873092_?)dup
|
|
|
NC_000010.10:g.(?_50821083)_(50874150_?)del
|
|
|
NC_000010.10:g.(?_50821083)_(50874150_?)dup
|
|
|
NC_000010.10:g.(?_50822226)_(50873102_?)dup
|
|
|
NC_000010.10:g.(?_50856533)_(50857702_?)del
|
|
|
NC_000010.11:g.(?_49614170)_(49665066_?)del
|
|
|
NC_000011.10:g.(?_47437955)_(47438951_?)del
|
|
|
NC_000011.10:g.(?_47437965)_(47438941_?)del
|
|
|
NC_000011.10:g.(?_47447802)_(47449175_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(46893204_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(46918565_?)dup
|
|
|
NC_000011.9:g.(?_46880534)_(47470516_?)del
|
|
|
NC_000011.9:g.(?_47431646)_(47470726_?)dup
|
|
|
NC_000011.9:g.(?_47459516)_(47459608_?)del
|
|
|
NC_000011.9:g.(?_47460273)_(47460492_?)del
|
|
|
NC_000011.9:g.(?_47462700)_(47463483_?)del
|
|
|
NC_000011.9:g.(?_47467519)_(47469609_?)del
|
|
|
NC_000011.9:g.(?_47469354)_(47470726_?)del
|
|
|
NC_000011.9:g.(?_47469557)_(47478800_?)del
|
|
|
NC_000017.10:g.(?_4802011)_(4850135_?)dup
|
|
|
NC_000017.10:g.(?_4802021)_(4802196_?)del
|
|
|
NC_000017.10:g.(?_4804800)_(4806078_?)dup
|
|
|
NC_000017.10:g.(?_4805539)_(4806690_?)del
|
|
|
NC_000017.10:g.(?_6328780)_(7606804_?)dup
|
|
|
NC_000017.10:g.(?_7348427)_(7352127_?)dup
|
|
|
NC_000017.10:g.(?_7348447)_(7357859_?)dup
|
|
|
NC_000017.10:g.(?_7357606)_(7360052_?)del
|
|
|
NC_000017.10:g.(?_7359882)_(7360042_?)del
|
|
|
NC_000017.11:g.(?_4898726)_(4948404_?)del
|
|
|
NC_000017.11:g.(?_4898726)_(5024161_?)dup
|
|
|
NC_000017.11:g.(?_4901641)_(4903159_?)del
|
|
|
NC_000017.11:g.(?_7454277)_(7454540_?)del
|
|
|
NC_000017.11:g.(?_7454287)_(7454530_?)del
|
|
|
NC_000020.10:g.(?_10256140)_(10286845_?)del
|
|
|
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala)
|
|
|
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)
|
|
|
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro)
|
|
|
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
|
|
|
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr)
|
|
|
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln)
|
rs768479748
|
|
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=)
|
rs1555546423
|
|
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val)
|
rs200035803
|
|
NM_000080.4(CHRNE):c.1012del (p.Met338fs)
|
rs2151095155
|
|
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=)
|
rs114454383
|
|
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser)
|
rs1019584942
|
|
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu)
|
rs139922367
|
|
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
|
|
|
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp)
|
rs1597615227
|
|
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln)
|
|
|
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
|
|
|
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro)
|
rs1230039635
|
|
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=)
|
rs2151095114
|
|
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)
|
|
|
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)
|
|
|
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg)
|
|
|
NM_000080.4(CHRNE):c.1032+10G>A
|
rs2151095067
|
|
NM_000080.4(CHRNE):c.1032+10G>C
|
|
|
NM_000080.4(CHRNE):c.1032+11A>G
|
|
|
NM_000080.4(CHRNE):c.1032+12G>A
|
|
|
NM_000080.4(CHRNE):c.1032+12_1032+13insC
|
|
|
NM_000080.4(CHRNE):c.1032+13G>C
|
|
|
NM_000080.4(CHRNE):c.1032+14G>A
|
|
|
NM_000080.4(CHRNE):c.1032+14G>C
|
|
|
NM_000080.4(CHRNE):c.1032+18G>A
|
|
|
NM_000080.4(CHRNE):c.1032+1G>A
|
rs1458613529
|
|
NM_000080.4(CHRNE):c.1032+20T>G
|
|
|
NM_000080.4(CHRNE):c.1032+3A>C
|
|
|
NM_000080.4(CHRNE):c.1032+7G>A
|
|
|
NM_000080.4(CHRNE):c.1032+9G>C
|
|
|
NM_000080.4(CHRNE):c.1032+9G>T
|
rs752020505
|
|
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln)
|
rs144047383
|
|
NM_000080.4(CHRNE):c.1032C>T (p.His344=)
|
|
|
NM_000080.4(CHRNE):c.1033-11C>T
|
|
|
NM_000080.4(CHRNE):c.1033-12C>A
|
|
|
NM_000080.4(CHRNE):c.1033-13G>A
|
|
|
NM_000080.4(CHRNE):c.1033-13G>T
|
|
|
NM_000080.4(CHRNE):c.1033-18GCCCC[3]
|
rs1555546374
|
|
NM_000080.4(CHRNE):c.1033-22_1033-9dup
|
rs764991750
|
|
NM_000080.4(CHRNE):c.1033-2del
|
|
|
NM_000080.4(CHRNE):c.1033-3_1033-2insGCCCCTGCCCCT
|
rs761361955
|
|
NM_000080.4(CHRNE):c.1033-4C>A
|
rs1046859320
|
|
NM_000080.4(CHRNE):c.1033-5C>T
|
rs928738409
|
|
NM_000080.4(CHRNE):c.1033-6_1033-1dup
|
rs886053123
|
|
NM_000080.4(CHRNE):c.1033-8_1033-3dup
|
rs761361955
|
|
NM_000080.4(CHRNE):c.1033-9del
|
|
|
NM_000080.4(CHRNE):c.1036C>G (p.Leu346Val)
|
rs1471932042
|
|
NM_000080.4(CHRNE):c.1038C>A (p.Leu346=)
|
|
|
NM_000080.4(CHRNE):c.1038C>T (p.Leu346=)
|
rs1275628199
|
|
NM_000080.4(CHRNE):c.1039C>T (p.Leu347=)
|
|
|
NM_000080.4(CHRNE):c.1045C>T (p.Leu349=)
|
|
|
NM_000080.4(CHRNE):c.1049T>A (p.Leu350Gln)
|
rs1969864400
|
|
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu)
|
rs764744220
|
|
NM_000080.4(CHRNE):c.1056C>A (p.Arg352=)
|
rs558633663
|
|
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=)
|
rs2151098928
|
|
NM_000080.4(CHRNE):c.1061T>C (p.Leu354Pro)
|
|
|
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)
|
rs2151094729
|
|
NM_000080.4(CHRNE):c.1063G>C (p.Gly355Arg)
|
|
|
NM_000080.4(CHRNE):c.1064G>C (p.Gly355Ala)
|
|
|
NM_000080.4(CHRNE):c.1064del (p.Gly355fs)
|
rs1567636622
|
|
NM_000080.4(CHRNE):c.1067C>T (p.Ser356Phe)
|
|
|
NM_000080.4(CHRNE):c.1068C>A (p.Ser356=)
|
|
|
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu)
|
rs1026988403
|
|
NM_000080.4(CHRNE):c.1070dup (p.Pro358fs)
|
|
|
NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del)
|
rs752226476
|
|
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)
|
rs752226476
|
|
NM_000080.4(CHRNE):c.1072_1081del (p.Pro358fs)
|
|
|
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)
|
rs932032926
|
|
NM_000080.4(CHRNE):c.1073C>T (p.Pro358Leu)
|
|
|
NM_000080.4(CHRNE):c.1076C>A (p.Pro359Gln)
|
rs192195094
|
|
NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs)
|
rs2151094632
|
|
NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs)
|
rs1555546315
|
|
NM_000080.4(CHRNE):c.1080C>T (p.Pro360=)
|
rs886042727
|
|
NM_000080.4(CHRNE):c.1080_1098dup (p.Ser367fs)
|
rs1969858094
|
|
NM_000080.4(CHRNE):c.1085C>A (p.Ala362Asp)
|
|
|
NM_000080.4(CHRNE):c.1085C>G (p.Ala362Gly)
|
rs1053507936
|
|
NM_000080.4(CHRNE):c.1085C>T (p.Ala362Val)
|
rs1053507936
|
|
NM_000080.4(CHRNE):c.1086C>T (p.Ala362=)
|
rs1213521480
|
|
NM_000080.4(CHRNE):c.108C>T (p.Asp36=)
|
|
|
NM_000080.4(CHRNE):c.1090C>A (p.Arg364=)
|
|
|
NM_000080.4(CHRNE):c.1090C>T (p.Arg364Trp)
|
|
|
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)
|
rs1156634884
|
|
NM_000080.4(CHRNE):c.1092G>A (p.Arg364=)
|
|
|
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)
|
rs886043239
|
|
NM_000080.4(CHRNE):c.1095C>T (p.Ala365=)
|
|
|
NM_000080.4(CHRNE):c.1096G>C (p.Ala366Pro)
|
|
|
NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs)
|
rs1255916068
|
|
NM_000080.4(CHRNE):c.1098C>A (p.Ala366=)
|
rs778313885
|
|
NM_000080.4(CHRNE):c.1101G>A (p.Ser367=)
|
|
|
NM_000080.4(CHRNE):c.1101G>C (p.Ser367=)
|
rs1969857597
|
|
NM_000080.4(CHRNE):c.1102C>A (p.Pro368Thr)
|
rs763837110
|
|
NM_000080.4(CHRNE):c.1104C>A (p.Pro368=)
|
rs767374241
|
|
NM_000080.4(CHRNE):c.1108A>C (p.Arg370=)
|
|
|
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)
|
rs1969856640
|
|
NM_000080.4(CHRNE):c.1111C>A (p.Arg371=)
|
|
|
NM_000080.4(CHRNE):c.1113_1174del (p.Ser373fs)
|
|
|
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=)
|
rs1226276974
|
|
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala)
|
rs1555546304
|
|
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=)
|
rs372862723
|
|
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter)
|
rs768869197
|
|
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
|
|
|
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
|
|
|
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
|
|
|
NM_000080.4(CHRNE):c.1135C>T (p.Leu379Phe)
|
|
|
NM_000080.4(CHRNE):c.1137C>T (p.Leu379=)
|
rs368940455
|
|
NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys)
|
|
|
NM_000080.4(CHRNE):c.1139G>C (p.Arg380Pro)
|
|
|
NM_000080.4(CHRNE):c.1140C>T (p.Arg380=)
|
|
|
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val)
|
rs756786529
|
|
NM_000080.4(CHRNE):c.1143G>C (p.Ala381=)
|
|
|
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del)
|
rs961784740
|
|
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs)
|
rs2151098905
|
|
NM_000080.4(CHRNE):c.1150C>T (p.Leu384=)
|
|
|
NM_000080.4(CHRNE):c.1151T>C (p.Leu384Pro)
|
rs753397420
|
|
NM_000080.4(CHRNE):c.1155A>G (p.Ile385Met)
|
|
|
NM_000080.4(CHRNE):c.1155A>T (p.Ile385=)
|
|
|
NM_000080.4(CHRNE):c.1158G>A (p.Leu386=)
|
|
|
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)
|
rs2151094540
|
|
NM_000080.4(CHRNE):c.115dup (p.Ser39fs)
|
rs977512223
|
|
NM_000080.4(CHRNE):c.1161A>G (p.Lys387=)
|
rs2151094537
|
|
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)
|
rs886037628
|
|
NM_000080.4(CHRNE):c.1164G>A (p.Lys388=)
|
|
|
NM_000080.4(CHRNE):c.1167A>G (p.Pro389=)
|
rs1211648043
|
|
NM_000080.4(CHRNE):c.1168C>A (p.Arg390=)
|
rs140763858
|
|
NM_000080.4(CHRNE):c.1170G>A (p.Arg390=)
|
|
|
NM_000080.4(CHRNE):c.1172G>A (p.Ser391Asn)
|
|
|
NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile)
|
rs1555546288
|
|
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)
|
rs146921234
|
|
NM_000080.4(CHRNE):c.1173C>T (p.Ser391=)
|
rs146921234
|
|
NM_000080.4(CHRNE):c.1176G>A (p.Glu392=)
|
rs768670572
|
|
NM_000080.4(CHRNE):c.1176G>C (p.Glu392Asp)
|
|
|
NM_000080.4(CHRNE):c.1179C>A (p.Leu393=)
|
|
|
NM_000080.4(CHRNE):c.1179C>G (p.Leu393=)
|
rs1159106476
|
|
NM_000080.4(CHRNE):c.1179C>T (p.Leu393=)
|
|
|
NM_000080.4(CHRNE):c.117C>T (p.Ser39=)
|
rs1970031660
|
|
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu)
|
rs772486503
|
|
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)
|
rs1423995073
|
|
NM_000080.4(CHRNE):c.1185T>C (p.Phe395=)
|
|
|
NM_000080.4(CHRNE):c.1188G>A (p.Glu396=)
|
|
|
NM_000080.4(CHRNE):c.1191G>T (p.Gly397=)
|
|
|
NM_000080.4(CHRNE):c.1192C>A (p.Gln398Lys)
|
|
|
NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter)
|
|
|
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs)
|
|
|
NM_000080.4(CHRNE):c.1200C>T (p.His400=)
|
rs2151094448
|
|
NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp)
|
|
|
NM_000080.4(CHRNE):c.1203G>A (p.Arg401=)
|
rs1969848614
|
|
NM_000080.4(CHRNE):c.1203G>C (p.Arg401=)
|
|
|
NM_000080.4(CHRNE):c.1203del (p.Gln402fs)
|
rs1429181185
|
|
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000080.4(CHRNE):c.1208G>A (p.Gly403Glu)
|
rs1310787375
|
|
NM_000080.4(CHRNE):c.1209G>A (p.Gly403=)
|
rs1414430330
|
|
NM_000080.4(CHRNE):c.1212C>A (p.Thr404=)
|
|
|
NM_000080.4(CHRNE):c.1212C>T (p.Thr404=)
|
rs1300177355
|
|
NM_000080.4(CHRNE):c.1214G>A (p.Trp405Ter)
|
rs2151094398
|
|
NM_000080.4(CHRNE):c.1214G>C (p.Trp405Ser)
|
|
|
NM_000080.4(CHRNE):c.1216_1219+19del
|
rs760623071
|
|
NM_000080.4(CHRNE):c.1217C>A (p.Thr406Lys)
|
rs532120320
|
|
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=)
|
rs751373916
|
|
NM_000080.4(CHRNE):c.1219+12G>A
|
|
|
NM_000080.4(CHRNE):c.1219+15C>T
|
|
|
NM_000080.4(CHRNE):c.1219+16C>T
|
|
|
NM_000080.4(CHRNE):c.1219+17T>C
|
|
|
NM_000080.4(CHRNE):c.1219+17T>G
|
|
|
NM_000080.4(CHRNE):c.1219+17_1219+22del
|
rs148340961
|
|
NM_000080.4(CHRNE):c.1219+19G>T
|
|
|
NM_000080.4(CHRNE):c.1219+1G>C
|
|
|
NM_000080.4(CHRNE):c.1219+20C>T
|
|
|
NM_000080.4(CHRNE):c.1219+23G>A
|
|
|
NM_000080.4(CHRNE):c.1219+2T>G
|
rs2151094378
|
|
NM_000080.4(CHRNE):c.1219+5_1219+6dup
|
|
|
NM_000080.4(CHRNE):c.1219+8C>G
|
rs1474684898
|
|
NM_000080.4(CHRNE):c.1219+8C>T
|
|
|
NM_000080.4(CHRNE):c.1219+8dup
|
|
|
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser)
|
|
|
NM_000080.4(CHRNE):c.1220-10del
|
|
|
NM_000080.4(CHRNE):c.1220-14G>A
|
|
|
NM_000080.4(CHRNE):c.1220-14_1220-3dup
|
|
|
NM_000080.4(CHRNE):c.1220-15T>C
|
|
|
NM_000080.4(CHRNE):c.1220-16G>A
|
|
|
NM_000080.4(CHRNE):c.1220-18C>T
|
|
|
NM_000080.4(CHRNE):c.1220-19C>A
|
|
|
NM_000080.4(CHRNE):c.1220-1G>C
|
rs373710822
|
|
NM_000080.4(CHRNE):c.1220-20C>A
|
|
|
NM_000080.4(CHRNE):c.1220-2A>C
|
|
|
NM_000080.4(CHRNE):c.1220-2A>G
|
rs1309292778
|
|
NM_000080.4(CHRNE):c.1220-3C>T
|
|
|
NM_000080.4(CHRNE):c.1220-4C>A
|
|
|
NM_000080.4(CHRNE):c.1220-4C>G
|
rs201553105
|
|
NM_000080.4(CHRNE):c.1220-5G>T
|
|
|
NM_000080.4(CHRNE):c.1220-6C>G
|
|
|
NM_000080.4(CHRNE):c.1220-6_1227del
|
rs1567635954
|
|
NM_000080.4(CHRNE):c.1220-7C>G
|
|
|
NM_000080.4(CHRNE):c.1220-8_1227dup
|
rs2151094080
|
|
NM_000080.4(CHRNE):c.1220-9C>G
|
rs748607118
|
|
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly)
|
rs778624148
|
|
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter)
|
rs1969839736
|
|
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=)
|
rs2151094069
|
|
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
|
|
|
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)
|
|
|
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=)
|
rs1969839608
|
|
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
|
|
|
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
|
|
|
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=)
|
rs370770111
|
|
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=)
|
rs966410323
|
|
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)
|
|
|
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs)
|
rs781774131
|
|
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
|
|
|
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=)
|
rs2151094028
|
|
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs)
|
rs748694848
|
|
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro)
|
|
|
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs)
|
rs1597613479
|
|
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
|
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter)
|
rs754975887
|
|
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
|
|
|
NM_000080.4(CHRNE):c.1258del (p.Val420fs)
|
|
|
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly)
|
|
|
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=)
|
rs994146259
|
|
NM_000080.4(CHRNE):c.126G>A (p.Val42=)
|
|
|
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs)
|
rs2151093952
|
|
NM_000080.4(CHRNE):c.1281G>A (p.Val427=)
|
rs2151093968
|
|
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr)
|
|
|
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser)
|
rs121909517
|
|
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)
|
rs1969834618
|
|
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
|
|
|
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs)
|
rs1194524772
|
|
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
|
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu)
|
|
|
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
|
|
|
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp)
|
|
|
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
|
|
|
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala)
|
|
|
NM_000080.4(CHRNE):c.1319_1326+15del
|
rs1208462125
|
|
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=)
|
rs1292101958
|
|
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)
|
rs1597613302
|
|
NM_000080.4(CHRNE):c.1326+13_1326+32del
|
rs780277856
|
|
NM_000080.4(CHRNE):c.1326+14C>T
|
|
|
NM_000080.4(CHRNE):c.1326+18G>A
|
|
|
NM_000080.4(CHRNE):c.1326+1G>A
|
rs1430654625
|
|
NM_000080.4(CHRNE):c.1326+20C>A
|
|
|
NM_000080.4(CHRNE):c.1326+2T>C
|
rs1597613279
|
|
NM_000080.4(CHRNE):c.1326+6A>C
|
rs886053122
|
|
NM_000080.4(CHRNE):c.1326+7C>T
|
|
|
NM_000080.4(CHRNE):c.1327-14C>G
|
|
|
NM_000080.4(CHRNE):c.1327-14C>T
|
|
|
NM_000080.4(CHRNE):c.1327-17_1327-16del
|
rs774197166
|
|
NM_000080.4(CHRNE):c.1327-18G>C
|
|
|
NM_000080.4(CHRNE):c.1327-21_1327-18del
|
|
|
NM_000080.4(CHRNE):c.1327-4C>G
|
rs2151093603
|
|
NM_000080.4(CHRNE):c.1327-5C>A
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-5C>T
|
rs2151093607
|
|
NM_000080.4(CHRNE):c.1327-6C>T
|
|
|
NM_000080.4(CHRNE):c.1327-6dup
|
rs770570480
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
|
|
|
NM_000080.4(CHRNE):c.132G>A (p.Glu44=)
|
rs2151098887
|
|
NM_000080.4(CHRNE):c.1332del (p.Ser445fs)
|
|
|
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=)
|
rs753202734
|
|
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu)
|
|
|
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
|
|
|
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter)
|
rs918839874
|
|
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala)
|
rs1969824493
|
|
NM_000080.4(CHRNE):c.1344G>A (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1344G>C (p.Val448=)
|
rs143098859
|
|
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser)
|
rs149083639
|
|
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile)
|
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val)
|
|
|
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
|
|
|
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn)
|
|
|
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del)
|
rs748289906
|
|
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=)
|
rs1969823137
|
|
NM_000080.4(CHRNE):c.1371del (p.Cys458fs)
|
rs1597612665
|
|
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys)
|
|
|
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)
|
|
|
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly)
|
|
|
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter)
|
rs1555546096
|
|
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)
|
|
|
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val)
|
|
|
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
|
|
|
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=)
|
rs570378547
|
|
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs)
|
|
|
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
|
|
|
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg)
|
|
|
NM_000080.4(CHRNE):c.138G>A (p.Glu46=)
|
rs2151098883
|
|
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
|
|
|
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu)
|
rs139171143
|
|
NM_000080.4(CHRNE):c.1402G>T (p.Val468Leu)
|
|
|
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
|
|
|
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val)
|
rs1346830083
|
|
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=)
|
rs2151093451
|
|
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
|
|
|
NM_000080.4(CHRNE):c.141T>C (p.Asp47=)
|
|
|
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
|
|
|
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=)
|
rs763943642
|
|
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser)
|
rs760738362
|
|
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)
|
|
|
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter)
|
rs775550642
|
|
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)
|
rs2151093399
|
|
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)
|
|
|
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)
|
|
|
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=)
|
rs950225592
|
|
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
|
|
|
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
|
|
|
NM_000080.4(CHRNE):c.147C>T (p.Val49=)
|
|
|
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?)
|
rs1555546038
|
|
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)
|
|
|
NM_000080.4(CHRNE):c.150C>T (p.Thr50=)
|
rs2151098879
|
|
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer)
|
rs2151098875
|
|
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
|
|
|
NM_000080.4(CHRNE):c.159C>G (p.Leu53=)
|
|
|
NM_000080.4(CHRNE):c.159C>T (p.Leu53=)
|
rs1970030477
|
|
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile)
|
|
|
NM_000080.4(CHRNE):c.177T>C (p.Asn59=)
|
|
|
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
|
|
|
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)
|
|
|
NM_000080.4(CHRNE):c.186A>G (p.Ser62=)
|
|
|
NM_000080.4(CHRNE):c.189+1G>A
|
|
|
NM_000080.4(CHRNE):c.189G>A (p.Leu63=)
|
|
|
NM_000080.4(CHRNE):c.190-2A>G
|
|
|
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly)
|
|
|
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln)
|
rs149766604
|
|
NM_000080.4(CHRNE):c.207T>A (p.Thr69=)
|
|
|
NM_000080.4(CHRNE):c.210C>G (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.210C>T (p.Leu70=)
|
rs750125430
|
|
NM_000080.4(CHRNE):c.213C>T (p.Thr71=)
|
rs764949297
|
|
NM_000080.4(CHRNE):c.216T>G (p.Thr72=)
|
|
|
NM_000080.4(CHRNE):c.21G>C (p.Gly7=)
|
|
|
NM_000080.4(CHRNE):c.21G>T (p.Gly7=)
|
rs1166759787
|
|
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter)
|
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.235G>C (p.Asp79His)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr)
|
rs1200020913
|
|
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter)
|
|
|
NM_000080.4(CHRNE):c.24C>A (p.Val8=)
|
rs147811172
|
|
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter)
|
rs121909513
|
|
NM_000080.4(CHRNE):c.250del (p.Arg84fs)
|
rs1555547003
|
|
NM_000080.4(CHRNE):c.255C>G (p.Leu85=)
|
rs752486312
|
|
NM_000080.4(CHRNE):c.255C>T (p.Leu85=)
|
|
|
NM_000080.4(CHRNE):c.258C>T (p.Asn86=)
|
|
|
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)
|
|
|
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg)
|
|
|
NM_000080.4(CHRNE):c.264C>T (p.Ser88=)
|
|
|
NM_000080.4(CHRNE):c.264del (p.Ser88fs)
|
|
|
NM_000080.4(CHRNE):c.267G>A (p.Lys89=)
|
|
|
NM_000080.4(CHRNE):c.270C>T (p.Asp90=)
|
|
|
NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
|
|
|
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)
|
|
|
NM_000080.4(CHRNE):c.282T>C (p.Gly94=)
|
|
|
NM_000080.4(CHRNE):c.293dup (p.Arg99fs)
|
|
|
NM_000080.4(CHRNE):c.294G>T (p.Leu98=)
|
|
|
NM_000080.4(CHRNE):c.295C>A (p.Arg99=)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter)
|
rs1278514080
|
|
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln)
|
|
|
NM_000080.4(CHRNE):c.297A>C (p.Arg99=)
|
rs2151098555
|
|
NM_000080.4(CHRNE):c.297A>G (p.Arg99=)
|
|
|
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
|
|
|
NM_000080.4(CHRNE):c.30C>T (p.Leu10=)
|
|
|
NM_000080.4(CHRNE):c.313G>A (p.Val105Met)
|
|
|
NM_000080.4(CHRNE):c.313_319del (p.Val105fs)
|
|
|
NM_000080.4(CHRNE):c.315G>A (p.Val105=)
|
rs2151098541
|
|
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)
|
|
|
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs)
|
rs2151098538
|
|
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter)
|
|
|
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs)
|
|
|
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val)
|
|
|
NM_000080.4(CHRNE):c.333G>T (p.Val111=)
|
|
|
NM_000080.4(CHRNE):c.336G>A (p.Leu112=)
|
|
|
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys)
|
|
|
NM_000080.4(CHRNE):c.345-1G>A
|
|
|
NM_000080.4(CHRNE):c.345-2A>G
|
|
|
NM_000080.4(CHRNE):c.345-2A>T
|
rs2151098412
|
|
NM_000080.4(CHRNE):c.348T>C (p.Ile116=)
|
|
|
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser)
|
|
|
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp)
|
|
|
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter)
|
rs1187421976
|
|
NM_000080.4(CHRNE):c.363A>G (p.Gly121=)
|
|
|
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala)
|
|
|
NM_000080.4(CHRNE):c.366G>A (p.Val122=)
|
rs2151098392
|
|
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter)
|
rs894382905
|
|
NM_000080.4(CHRNE):c.375C>T (p.Asp125=)
|
|
|
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe)
|
|
|
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
|
|
|
NM_000080.4(CHRNE):c.381C>T (p.Asn127=)
|
|
|
NM_000080.4(CHRNE):c.384G>A (p.Val128=)
|
|
|
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del)
|
rs1555546980
|
|
NM_000080.4(CHRNE):c.387C>A (p.Leu129=)
|
|
|
NM_000080.4(CHRNE):c.387C>G (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.387C>T (p.Leu129=)
|
rs767908282
|
|
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
|
|
|
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter)
|
|
|
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=)
|
rs1567639631
|
|
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp)
|
|
|
NM_000080.4(CHRNE):c.399C>T (p.Gly133=)
|
|
|
NM_000080.4(CHRNE):c.39G>A (p.Gly13=)
|
|
|
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)
|
|
|
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs)
|
|
|
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys)
|
rs763181728
|
|
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met)
|
rs146089157
|
|
NM_000080.4(CHRNE):c.411G>A (p.Thr137=)
|
|
|
NM_000080.4(CHRNE):c.415C>T (p.Leu139=)
|
rs776129600
|
|
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu)
|
|
|
NM_000080.4(CHRNE):c.41T>A (p.Leu14His)
|
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala)
|
rs483353045
|
|
NM_000080.4(CHRNE):c.426C>T (p.Ala142=)
|
rs1970007044
|
|
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys)
|
rs1064795871
|
|
NM_000080.4(CHRNE):c.438C>T (p.Ser146=)
|
rs776429372
|
|
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs)
|
rs2151098295
|
|
NM_000080.4(CHRNE):c.441C>T (p.Val147=)
|
rs779058823
|
|
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser)
|
rs1597621396
|
|
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000080.4(CHRNE):c.444C>T (p.Cys148=)
|
rs970593355
|
|
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs)
|
rs1597621353
|
|
NM_000080.4(CHRNE):c.447_459del (p.Val150fs)
|
rs1970005446
|
|
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs)
|
|
|
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)
|
|
|
NM_000080.4(CHRNE):c.46+11G>A
|
|
|
NM_000080.4(CHRNE):c.46+19G>A
|
|
|
NM_000080.4(CHRNE):c.46+1G>T
|
rs746199600
|
|
NM_000080.4(CHRNE):c.46+3A>G
|
|
|
NM_000080.4(CHRNE):c.46+4C>T
|
|
|
NM_000080.4(CHRNE):c.46+9_46+10del
|
rs2151099125
|
|
NM_000080.4(CHRNE):c.468C>G (p.Pro156=)
|
rs751830305
|
|
NM_000080.4(CHRNE):c.47-11dup
|
rs550750896
|
|
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter)
|
|
|
NM_000080.4(CHRNE):c.486T>C (p.Cys162=)
|
rs2151098251
|
|
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu)
|
rs121909516
|
|
NM_000080.4(CHRNE):c.489G>A (p.Ser163=)
|
rs2151098246
|
|
NM_000080.4(CHRNE):c.489G>T (p.Ser163=)
|
|
|
NM_000080.4(CHRNE):c.48C>T (p.Gly16=)
|
|
|
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys)
|
|
|
NM_000080.4(CHRNE):c.500+2T>C
|
|
|
NM_000080.4(CHRNE):c.501-10_504dup
|
rs768552387
|
|
NM_000080.4(CHRNE):c.501-1G>C
|
|
|
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter)
|
|
|
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
|
|
|
NM_000080.4(CHRNE):c.507G>A (p.Gln169=)
|
|
|
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)
|
|
|
NM_000080.4(CHRNE):c.510G>T (p.Thr170=)
|
rs749454549
|
|
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=)
|
rs1276027772
|
|
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser)
|
|
|
NM_000080.4(CHRNE):c.51G>A (p.Arg17=)
|
rs758923058
|
|
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter)
|
|
|
NM_000080.4(CHRNE):c.528G>A (p.Val176=)
|
rs2151097833
|
|
NM_000080.4(CHRNE):c.529_531del (p.Glu177del)
|
rs779816027
|
|
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser)
|
rs1970033624
|
|
NM_000080.4(CHRNE):c.531G>A (p.Glu177=)
|
rs1597620349
|
|
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala)
|
rs4790235
|
|
NM_000080.4(CHRNE):c.540T>C (p.Phe180=)
|
|
|
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr)
|
|
|
NM_000080.4(CHRNE):c.543C>T (p.Ala181=)
|
|
|
NM_000080.4(CHRNE):c.546A>G (p.Val182=)
|
|
|
NM_000080.4(CHRNE):c.549C>T (p.Asp183=)
|
rs2151097801
|
|
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)
|
|
|
NM_000080.4(CHRNE):c.551dup (p.Asn184fs)
|
|
|
NM_000080.4(CHRNE):c.552C>T (p.Asn184=)
|
rs978516236
|
|
NM_000080.4(CHRNE):c.558C>G (p.Gly186=)
|
rs761643342
|
|
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met)
|
|
|
NM_000080.4(CHRNE):c.567C>A (p.Ile189=)
|
|
|
NM_000080.4(CHRNE):c.569dup (p.Asn190fs)
|
|
|
NM_000080.4(CHRNE):c.570C>T (p.Asn190=)
|
rs1969985137
|
|
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met)
|
rs1555546863
|
|
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn)
|
|
|
NM_000080.4(CHRNE):c.57G>A (p.Val19=)
|
|
|
NM_000080.4(CHRNE):c.582C>A (p.Ile194=)
|
rs2151097756
|
|
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn)
|
|
|
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr)
|
rs774425374
|
|
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter)
|
|
|
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg)
|
|
|
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs)
|
rs2151097742
|
|
NM_000080.4(CHRNE):c.594C>T (p.Ala198=)
|
rs2151097737
|
|
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser)
|
rs1969983733
|
|
NM_000080.4(CHRNE):c.601+1G>T
|
|
|
NM_000080.4(CHRNE):c.601+8C>T
|
rs539874157
|
|
NM_000080.4(CHRNE):c.602-10C>T
|
rs765175027
|
|
NM_000080.4(CHRNE):c.602-1G>A
|
|
|
NM_000080.4(CHRNE):c.602-4_602-3delinsTT
|
rs1597619689
|
|
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs)
|
rs1969973509
|
|
NM_000080.4(CHRNE):c.609C>A (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>G (p.Gly203=)
|
rs912870458
|
|
NM_000080.4(CHRNE):c.609C>T (p.Gly203=)
|
|
|
NM_000080.4(CHRNE):c.60G>A (p.Gly20=)
|
rs2151098969
|
|
NM_000080.4(CHRNE):c.612G>A (p.Glu204=)
|
|
|
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)
|
rs753828284
|
|
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs)
|
rs1969972830
|
|
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val)
|
rs1422386099
|
|
NM_000080.4(CHRNE):c.621C>A (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.621C>T (p.Ile207=)
|
rs2151097478
|
|
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu)
|
|
|
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg)
|
rs2151097468
|
|
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg)
|
rs1970033266
|
|
NM_000080.4(CHRNE):c.630C>T (p.Cys210=)
|
|
|
NM_000080.4(CHRNE):c.639G>A (p.Val213=)
|
rs1969972651
|
|
NM_000080.4(CHRNE):c.63G>A (p.Lys21=)
|
rs2151098964
|
|
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg)
|
|
|
NM_000080.4(CHRNE):c.645C>T (p.Arg215=)
|
rs2151097437
|
|
NM_000080.4(CHRNE):c.647_653dup (p.His218fs)
|
rs2151097420
|
|
NM_000080.4(CHRNE):c.648C>T (p.Arg216=)
|
rs2151097429
|
|
NM_000080.4(CHRNE):c.651C>T (p.His217=)
|
rs564044217
|
|
NM_000080.4(CHRNE):c.653A>C (p.His218Pro)
|
|
|
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs)
|
|
|
NM_000080.4(CHRNE):c.654C>T (p.His218=)
|
rs751388919
|
|
NM_000080.4(CHRNE):c.657T>A (p.Gly219=)
|
rs1969971346
|
|
NM_000080.4(CHRNE):c.660C>A (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.660C>T (p.Gly220=)
|
rs1969971072
|
|
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr)
|
|
|
NM_000080.4(CHRNE):c.666C>G (p.Thr222=)
|
|
|
NM_000080.4(CHRNE):c.666C>T (p.Thr222=)
|
rs1224426288
|
|
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
|
|
|
NM_000080.4(CHRNE):c.672C>A (p.Gly224=)
|
rs2151097392
|
|
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr)
|
|
|
NM_000080.4(CHRNE):c.675A>G (p.Pro225=)
|
|
|
NM_000080.4(CHRNE):c.678G>A (p.Gly226=)
|
rs1431059369
|
|
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter)
|
|
|
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala)
|
|
|
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs)
|
rs1597619440
|
|
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val)
|
|
|
NM_000080.4(CHRNE):c.687C>T (p.Asp229=)
|
rs1479728021
|
|
NM_000080.4(CHRNE):c.687del (p.Asp229fs)
|
|
|
NM_000080.4(CHRNE):c.690C>A (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.690C>T (p.Val230=)
|
rs1597619417
|
|
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His)
|
rs2151097342
|
|
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del)
|
|
|
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=)
|
rs1284899632
|
|
NM_000080.4(CHRNE):c.699G>C (p.Ser233=)
|
rs375146171
|
|
NM_000080.4(CHRNE):c.702C>A (p.Leu234=)
|
|
|
NM_000080.4(CHRNE):c.705C>A (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.705C>T (p.Ile235=)
|
rs748765369
|
|
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
|
|
|
NM_000080.4(CHRNE):c.710G>A (p.Arg237His)
|
rs201434993
|
|
NM_000080.4(CHRNE):c.711C>T (p.Arg237=)
|
|
|
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp)
|
rs1567638676
|
|
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln)
|
rs2151097307
|
|
NM_000080.4(CHRNE):c.714G>A (p.Arg238=)
|
rs768299579
|
|
NM_000080.4(CHRNE):c.717G>A (p.Lys239=)
|
|
|
NM_000080.4(CHRNE):c.720G>A (p.Pro240=)
|
|
|
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe)
|
rs28999110
|
|
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys)
|
rs1969968160
|
|
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=)
|
|
|
NM_000080.4(CHRNE):c.738C>T (p.Asn246=)
|
rs2151097269
|
|
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del)
|
|
|
NM_000080.4(CHRNE):c.741C>T (p.Ile247=)
|
rs1969967603
|
|
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu)
|
|
|
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)
|
|
|
NM_000080.4(CHRNE):c.747G>C (p.Val249=)
|
|
|
NM_000080.4(CHRNE):c.750_751del (p.Val252fs)
|
|
|
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser)
|
rs867237170
|
|
NM_000080.4(CHRNE):c.753T>C (p.Cys251=)
|
|
|
NM_000080.4(CHRNE):c.759C>A (p.Leu253=)
|
rs1969966911
|
|
NM_000080.4(CHRNE):c.75G>A (p.Leu25=)
|
rs2151098953
|
|
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp)
|
|
|
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu)
|
rs1555546765
|
|
NM_000080.4(CHRNE):c.765G>A (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.765G>C (p.Ser255=)
|
|
|
NM_000080.4(CHRNE):c.769C>T (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.771G>C (p.Leu257=)
|
|
|
NM_000080.4(CHRNE):c.775C>T (p.Leu259=)
|
rs2151097232
|
|
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe)
|
rs1567638591
|
|
NM_000080.4(CHRNE):c.77G>A (p.Arg26His)
|
rs188661284
|
|
NM_000080.4(CHRNE):c.780C>A (p.Leu260=)
|
|
|
NM_000080.4(CHRNE):c.783C>T (p.Ala261=)
|
|
|
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His)
|
|
|
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=)
|
rs2151097217
|
|
NM_000080.4(CHRNE):c.789C>T (p.Phe263=)
|
rs761487611
|
|
NM_000080.4(CHRNE):c.790C>T (p.Leu264=)
|
|
|
NM_000080.4(CHRNE):c.790del (p.Leu264fs)
|
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.794del (p.Pro265fs)
|
rs756675414
|
|
NM_000080.4(CHRNE):c.798G>A (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>C (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.798G>T (p.Ala266=)
|
rs746772722
|
|
NM_000080.4(CHRNE):c.802+1G>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>A
|
|
|
NM_000080.4(CHRNE):c.802+2T>C
|
rs2151097188
|
|
NM_000080.4(CHRNE):c.802+9T>C
|
rs199876621
|
|
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro)
|
|
|
NM_000080.4(CHRNE):c.803-1G>T
|
|
|
NM_000080.4(CHRNE):c.807C>T (p.Gly269=)
|
|
|
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser)
|
rs1447784617
|
|
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter)
|
|
|
NM_000080.4(CHRNE):c.816A>G (p.Lys272=)
|
|
|
NM_000080.4(CHRNE):c.822G>A (p.Thr274=)
|
|
|
NM_000080.4(CHRNE):c.825C>A (p.Val275=)
|
|
|
NM_000080.4(CHRNE):c.828C>T (p.Ser276=)
|
rs1969960127
|
|
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)
|
|
|
NM_000080.4(CHRNE):c.829dup (p.Ile277fs)
|
rs2151097082
|
|
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr)
|
rs1284578156
|
|
NM_000080.4(CHRNE):c.834C>T (p.Asn278=)
|
rs996197218
|
|
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe)
|
rs1597618854
|
|
NM_000080.4(CHRNE):c.838C>T (p.Leu280=)
|
rs900612569
|
|
NM_000080.4(CHRNE):c.846C>T (p.Ala282=)
|
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs)
|
rs1567638401
|
|
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro)
|
rs121909510
|
|
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile)
|
|
|
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys)
|
|
|
NM_000080.4(CHRNE):c.852del (p.Val285fs)
|
|
|
NM_000080.4(CHRNE):c.858C>T (p.Phe286=)
|
rs1597618773
|
|
NM_000080.4(CHRNE):c.864C>T (p.Phe288=)
|
rs1282925982
|
|
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val)
|
|
|
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe)
|
rs121909511
|
|
NM_000080.4(CHRNE):c.866del (p.Leu289fs)
|
|
|
NM_000080.4(CHRNE):c.867C>T (p.Leu289=)
|
|
|
NM_000080.4(CHRNE):c.870T>C (p.Ile290=)
|
rs775157123
|
|
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter)
|
|
|
NM_000080.4(CHRNE):c.87C>T (p.His29=)
|
rs1567640279
|
|
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)
|
|
|
NM_000080.4(CHRNE):c.885A>G (p.Pro295=)
|
rs1597618703
|
|
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile)
|
rs770980262
|
|
NM_000080.4(CHRNE):c.891T>G (p.Thr297=)
|
rs1969956471
|
|
NM_000080.4(CHRNE):c.894T>G (p.Ser298=)
|
rs2151097016
|
|
NM_000080.4(CHRNE):c.895C>T (p.Leu299=)
|
rs2151097014
|
|
NM_000080.4(CHRNE):c.897G>A (p.Leu299=)
|
rs2151097007
|
|
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr)
|
rs776585678
|
|
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala)
|
rs979787967
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu)
|
rs370019023
|
|
NM_000080.4(CHRNE):c.906G>T (p.Pro302=)
|
rs374156332
|
|
NM_000080.4(CHRNE):c.909C>G (p.Leu303=)
|
|
|
NM_000080.4(CHRNE):c.915C>A (p.Gly305=)
|
rs992228063
|
|
NM_000080.4(CHRNE):c.917+7C>T
|
rs961101973
|
|
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met)
|
rs2151096983
|
|
NM_000080.4(CHRNE):c.918-1G>A
|
rs1407243713
|
|
NM_000080.4(CHRNE):c.918-8C>T
|
rs1597615600
|
|
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser)
|
rs1453842961
|
|
NM_000080.4(CHRNE):c.924T>G (p.Leu308=)
|
|
|
NM_000080.4(CHRNE):c.933C>G (p.Val311=)
|
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000080.4(CHRNE):c.948G>C (p.Thr316=)
|
|
|
NM_000080.4(CHRNE):c.948G>T (p.Thr316=)
|
rs144207552
|
|
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)
|
|
|
NM_000080.4(CHRNE):c.951C>G (p.Leu317=)
|
rs757563966
|
|
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs)
|
|
|
NM_000080.4(CHRNE):c.957C>A (p.Val319=)
|
|
|
NM_000080.4(CHRNE):c.957C>T (p.Val319=)
|
rs1244564448
|
|
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)
|
|
|
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.966C>T (p.Cys322=)
|
rs56377005
|
|
NM_000080.4(CHRNE):c.969C>A (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.969C>T (p.Val323=)
|
rs532669011
|
|
NM_000080.4(CHRNE):c.96C>T (p.Phe32=)
|
|
|
NM_000080.4(CHRNE):c.975G>C (p.Val325=)
|
rs1969881791
|
|
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
|
|
|
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser)
|
|
|
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
|
|
|
NM_000080.4(CHRNE):c.984G>T (p.Val328=)
|
rs1969880796
|
|
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs)
|
rs1969880683
|
|
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)
|
|
|
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)
|
rs121909515
|
|
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln)
|
rs760022829
|
|
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
|
|
|
NM_000080.4(CHRNE):c.996G>A (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
|
|
|
NM_000080.4(CHRNE):c.996G>T (p.Thr332=)
|
rs772819662
|
|
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)
|
|
|
NM_000080.4(CHRNE):c.99C>T (p.Asn33=)
|
|
|
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=)
|
|
|
NM_000747.3(CHRNB1):c.1026G>A (p.Met342Ile)
|
rs1909001767
|
|
NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys)
|
|
|
NM_000747.3(CHRNB1):c.1044+12CTC[2]
|
rs536204964
|
|
NM_000747.3(CHRNB1):c.1044+14C>T
|
|
|
NM_000747.3(CHRNB1):c.1044+7_1044+10del
|
rs1311886791
|
|
NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=)
|
|
|
NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=)
|
|
|
NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)
|
|
|
NM_000747.3(CHRNB1):c.1074G>C (p.Leu358=)
|
rs2150842897
|
|
NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro)
|
rs747724114
|
|
NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys)
|
|
|
NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His)
|
rs749009183
|
|
NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)
|
|
|
NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu)
|
|
|
NM_000747.3(CHRNB1):c.1137A>C (p.Pro379=)
|
rs1597754960
|
|
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=)
|
rs886053403
|
|
NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg)
|
|
|
NM_000747.3(CHRNB1):c.1154G>A (p.Arg385Gln)
|
rs1222134398
|
|
NM_000747.3(CHRNB1):c.1154G>C (p.Arg385Pro)
|
rs1222134398
|
|
NM_000747.3(CHRNB1):c.115_117del (p.Asp39del)
|
rs777431654
|
|
NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr)
|
|
|
NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=)
|
|
|
NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu)
|
|
|
NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val)
|
|
|
NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)
|
|
|
NM_000747.3(CHRNB1):c.1217+10C>T
|
|
|
NM_000747.3(CHRNB1):c.1217+11G>A
|
rs1017100339
|
|
NM_000747.3(CHRNB1):c.1217+15G>T
|
|
|
NM_000747.3(CHRNB1):c.1218-10C>T
|
rs571453172
|
|
NM_000747.3(CHRNB1):c.1218-15T>C
|
|
|
NM_000747.3(CHRNB1):c.1218-3C>T
|
rs886053404
|
|
NM_000747.3(CHRNB1):c.1218-9_1218-7del
|
rs781689096
|
|
NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro)
|
|
|
NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro)
|
|
|
NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer)
|
|
|
NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=)
|
|
|
NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu)
|
|
|
NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met)
|
|
|
NM_000747.3(CHRNB1):c.1292del (p.Pro431fs)
|
rs1239393228
|
|
NM_000747.3(CHRNB1):c.129G>A (p.Arg43=)
|
rs1597747394
|
|
NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe)
|
|
|
NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp)
|
rs1597755409
|
|
NM_000747.3(CHRNB1):c.1314C>T (p.Ser438=)
|
rs576092367
|
|
NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn)
|
|
|
NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=)
|
|
|
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)
|
|
|
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
|
|
|
NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=)
|
rs2150843392
|
|
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu)
|
rs777159945
|
|
NM_000747.3(CHRNB1):c.1365+18G>A
|
|
|
NM_000747.3(CHRNB1):c.1365+5del
|
rs2069945881
|
|
NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)
|
|
|
NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter)
|
|
|
NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)
|
|
|
NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)
|
|
|
NM_000747.3(CHRNB1):c.1406G>A (p.Arg469His)
|
rs762250406
|
|
NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=)
|
|
|
NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala)
|
|
|
NM_000747.3(CHRNB1):c.1437C>T (p.Thr479=)
|
rs1056901434
|
|
NM_000747.3(CHRNB1):c.1453G>A (p.Val485Ile)
|
rs2150843850
|
|
NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg)
|
rs776235550
|
|
NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met)
|
|
|
NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser)
|
|
|
NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=)
|
rs1337697871
|
|
NM_000747.3(CHRNB1):c.1497del (p.Pro501fs)
|
rs749511394
|
|
NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)
|
|
|
NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)
|
|
|
NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro)
|
rs1908562302
|
|
NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)
|
|
|
NM_000747.3(CHRNB1):c.192C>T (p.Ile64=)
|
rs2150837030
|
|
NM_000747.3(CHRNB1):c.198+14G>C
|
|
|
NM_000747.3(CHRNB1):c.198+14G>T
|
|
|
NM_000747.3(CHRNB1):c.198+15G>A
|
rs199665345
|
|
NM_000747.3(CHRNB1):c.198+15G>T
|
|
|
NM_000747.3(CHRNB1):c.198+17G>C
|
|
|
NM_000747.3(CHRNB1):c.198+3G>T
|
rs1555551725
|
|
NM_000747.3(CHRNB1):c.198+7G>T
|
|
|
NM_000747.3(CHRNB1):c.198+8C>T
|
rs1452929919
|
|
NM_000747.3(CHRNB1):c.199-13T>G
|
rs2150837467
|
|
NM_000747.3(CHRNB1):c.199-2A>C
|
|
|
NM_000747.3(CHRNB1):c.199-8C>G
|
|
|
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val)
|
rs1064795835
|
|
NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys)
|
rs1908599255
|
|
NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)
|
|
|
NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)
|
|
|
NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)
|
|
|
NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)
|
|
|
NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)
|
|
|
NM_000747.3(CHRNB1):c.243+19del
|
rs747500029
|
|
NM_000747.3(CHRNB1):c.244-14C>G
|
|
|
NM_000747.3(CHRNB1):c.257A>G (p.Tyr86Cys)
|
rs1555551838
|
|
NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn)
|
|
|
NM_000747.3(CHRNB1):c.286G>C (p.Asp96His)
|
rs778968747
|
|
NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu)
|
|
|
NM_000747.3(CHRNB1):c.290_291delinsAA (p.Gly97Glu)
|
rs2150838192
|
|
NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu)
|
|
|
NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])
|
|
|
NM_000747.3(CHRNB1):c.300G>A (p.Ser100=)
|
rs376099204
|
|
NM_000747.3(CHRNB1):c.301C>T (p.Leu101Phe)
|
rs1908655813
|
|
NM_000747.3(CHRNB1):c.304C>T (p.Arg102Cys)
|
rs953970739
|
|
NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu)
|
rs201915086
|
|
NM_000747.3(CHRNB1):c.306C>T (p.Arg102=)
|
|
|
NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met)
|
|
|
NM_000747.3(CHRNB1):c.312G>A (p.Thr104=)
|
|
|
NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg)
|
rs1908543374
|
|
NM_000747.3(CHRNB1):c.321C>T (p.Ser107=)
|
|
|
NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys)
|
|
|
NM_000747.3(CHRNB1):c.330C>G (p.Leu110=)
|
rs760133867
|
|
NM_000747.3(CHRNB1):c.336C>T (p.Asp112=)
|
|
|
NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro)
|
rs1460616970
|
|
NM_000747.3(CHRNB1):c.353+5_353+7del
|
|
|
NM_000747.3(CHRNB1):c.354-1G>A
|
rs1597749210
|
|
NM_000747.3(CHRNB1):c.354-6C>G
|
|
|
NM_000747.3(CHRNB1):c.354C>T (p.Asn118=)
|
|
|
NM_000747.3(CHRNB1):c.361G>C (p.Gly121Arg)
|
rs1908667282
|
|
NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met)
|
rs1555551699
|
|
NM_000747.3(CHRNB1):c.372C>T (p.Asp124=)
|
|
|
NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr)
|
rs762779280
|
|
NM_000747.3(CHRNB1):c.387T>C (p.Ile129=)
|
|
|
NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro)
|
|
|
NM_000747.3(CHRNB1):c.398T>C (p.Val133Ala)
|
rs1028135504
|
|
NM_000747.3(CHRNB1):c.399G>A (p.Val133=)
|
|
|
NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe)
|
|
|
NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr)
|
|
|
NM_000747.3(CHRNB1):c.408C>T (p.Asp136=)
|
|
|
NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)
|
rs1250653617
|
|
NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr)
|
|
|
NM_000747.3(CHRNB1):c.429C>G (p.Pro143=)
|
|
|
NM_000747.3(CHRNB1):c.432G>A (p.Pro144=)
|
|
|
NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser)
|
|
|
NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly)
|
rs75926342
|
|
NM_000747.3(CHRNB1):c.462+20G>A
|
|
|
NM_000747.3(CHRNB1):c.477C>G (p.Pro159=)
|
|
|
NM_000747.3(CHRNB1):c.480C>T (p.Phe160=)
|
rs1416889935
|
|
NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser)
|
|
|
NM_000747.3(CHRNB1):c.504G>T (p.Val168=)
|
|
|
NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys)
|
rs1567677415
|
|
NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys)
|
|
|
NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys)
|
|
|
NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=)
|
|
|
NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn)
|
|
|
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=)
|
rs886053393
|
|
NM_000747.3(CHRNB1):c.531G>T (p.Ser177=)
|
rs886053393
|
|
NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)
|
rs534380483
|
|
NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp)
|
|
|
NM_000747.3(CHRNB1):c.58+12C>A
|
|
|
NM_000747.3(CHRNB1):c.58+1G>A
|
|
|
NM_000747.3(CHRNB1):c.58+20G>A
|
rs1908548076
|
|
NM_000747.3(CHRNB1):c.58+4A>G
|
|
|
NM_000747.3(CHRNB1):c.59-3_60dup
|
|
|
NM_000747.3(CHRNB1):c.593A>C (p.His198Pro)
|
|
|
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs)
|
rs1447564693
|
|
NM_000747.3(CHRNB1):c.610+13G>T
|
|
|
NM_000747.3(CHRNB1):c.611-15_611-13del
|
rs752595679
|
|
NM_000747.3(CHRNB1):c.611-1G>C
|
|
|
NM_000747.3(CHRNB1):c.611-6C>T
|
|
|
NM_000747.3(CHRNB1):c.611-9C>G
|
rs538827412
|
|
NM_000747.3(CHRNB1):c.612G>A (p.Glu204=)
|
rs754405279
|
|
NM_000747.3(CHRNB1):c.631A>G (p.Ile211Val)
|
rs1908757011
|
|
NM_000747.3(CHRNB1):c.663A>T (p.Pro221=)
|
rs759723394
|
|
NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn)
|
|
|
NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr)
|
|
|
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu)
|
|
|
NM_000747.3(CHRNB1):c.695G>A (p.Arg232His)
|
|
|
NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu)
|
rs202080837
|
|
NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe)
|
|
|
NM_000747.3(CHRNB1):c.719T>A (p.Ile240Asn)
|
rs2150839386
|
|
NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)
|
|
|
NM_000747.3(CHRNB1):c.725G>T (p.Arg242Leu)
|
rs79220301
|
|
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys)
|
rs199875082
|
|
NM_000747.3(CHRNB1):c.745C>T (p.Leu249=)
|
|
|
NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe)
|
rs751045224
|
|
NM_000747.3(CHRNB1):c.757_820+135del
|
|
|
NM_000747.3(CHRNB1):c.759dup (p.Ala254fs)
|
rs2150839428
|
|
NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg)
|
|
|
NM_000747.3(CHRNB1):c.775A>T (p.Ile259Phe)
|
rs1908768345
|
|
NM_000747.3(CHRNB1):c.784C>T (p.Leu262=)
|
|
|
NM_000747.3(CHRNB1):c.78G>A (p.Ala26=)
|
rs776631018
|
|
NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val)
|
rs1908769177
|
|
NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile)
|
|
|
NM_000747.3(CHRNB1):c.801C>G (p.Phe267Leu)
|
rs1908769664
|
|
NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr)
|
rs749302262
|
|
NM_000747.3(CHRNB1):c.820+16G>T
|
|
|
NM_000747.3(CHRNB1):c.821-14C>T
|
|
|
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter)
|
rs1908992563
|
|
NM_000747.3(CHRNB1):c.850C>T (p.Leu284=)
|
|
|
NM_000747.3(CHRNB1):c.854T>C (p.Leu285Pro)
|
rs2150842362
|
|
NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val)
|
|
|
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)
|
rs137852810
|
|
NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala)
|
rs1908994498
|
|
NM_000747.3(CHRNB1):c.877C>T (p.Leu293=)
|
rs956543933
|
|
NM_000747.3(CHRNB1):c.883del (p.Ala295fs)
|
rs780391043
|
|
NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala)
|
|
|
NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)
|
|
|
NM_000747.3(CHRNB1):c.930G>A (p.Lys310=)
|
|
|
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala)
|
rs1908998622
|
|
NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile)
|
|
|
NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu)
|
|
|
NM_000747.3(CHRNB1):c.972C>T (p.Ile324=)
|
rs781190969
|
|
NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile)
|
|
|
NM_000747.3(CHRNB1):c.981C>T (p.Val327=)
|
|
|
NM_000747.3(CHRNB1):c.982G>A (p.Val328Met)
|
rs865958957
|
|
NM_000747.3(CHRNB1):c.993C>T (p.Asn331=)
|
|
|
NM_000747.3(CHRNB1):c.9A>G (p.Pro3=)
|
rs1481997291
|
|
NM_001145536.2(C17orf107):c.*1010C>G
|
rs774425374
|
|
NM_001145536.2(C17orf107):c.*1095G>A
|
|
|
NM_001145536.2(C17orf107):c.*1096C>A
|
|
|
NM_001145536.2(C17orf107):c.*1096C>T
|
rs2151097867
|
|
NM_001145536.2(C17orf107):c.*1097G>A
|
|
|
NM_001145536.2(C17orf107):c.*1099A>G
|
|
|
NM_001145536.2(C17orf107):c.*1103_*1115dup
|
|
|
NM_001145536.2(C17orf107):c.*1104G>C
|
|
|
NM_001145536.2(C17orf107):c.*1107C>T
|
|
|
NM_001145536.2(C17orf107):c.*1109G>A
|
|
|
NM_001145536.2(C17orf107):c.*1110G>A
|
|
|
NM_001145536.2(C17orf107):c.*1111G>A
|
|
|
NM_001145536.2(C17orf107):c.*1381C>T
|
|
|
NM_001145536.2(C17orf107):c.*1382G>A
|
|
|
NM_001145536.2(C17orf107):c.*1383G>A
|
|
|
NM_001145536.2(C17orf107):c.*1390T>G
|
|
|
NM_001145536.2(C17orf107):c.*1390_*1391delinsAA
|
rs2151098237
|
|
NM_001145536.2(C17orf107):c.*1391C>A
|
|
|
NM_001145536.2(C17orf107):c.*1558T>C
|
|
|
NM_001145536.2(C17orf107):c.*1562C>T
|
rs2151098423
|
|
NM_001145536.2(C17orf107):c.*1567G>A
|
|
|
NM_001145536.2(C17orf107):c.*1571A>T
|
|
|
NM_001145536.2(C17orf107):c.*1573C>A
|
|
|
NM_001145536.2(C17orf107):c.*1573C>G
|
|
|
NM_001145536.2(C17orf107):c.*1573C>T
|
|
|
NM_001145536.2(C17orf107):c.*1574G>A
|
|
|
NM_001145536.2(C17orf107):c.*1574G>C
|
|
|
NM_001145536.2(C17orf107):c.*1670G>T
|
|
|
NM_001145536.2(C17orf107):c.*1674C>T
|
|
|
NM_001145536.2(C17orf107):c.*1675G>A
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1675G>C
|
rs371037732
|
|
NM_001145536.2(C17orf107):c.*1676G>A
|
rs2151098517
|
|
NM_001145536.2(C17orf107):c.*1677T>C
|
|
|
NM_001145536.2(C17orf107):c.*1798G>C
|
|
|
NM_001145536.2(C17orf107):c.*1799G>T
|
|
|
NM_001145536.2(C17orf107):c.*1800G>A
|
|
|
NM_001145536.2(C17orf107):c.*1803G>A
|
rs778566436
|
|
NM_001145536.2(C17orf107):c.*1803G>T
|
|
|
NM_001145536.2(C17orf107):c.*1808A>G
|
|
|
NM_001145536.2(C17orf107):c.*1809T>C
|
|
|
NM_001145536.2(C17orf107):c.*1810G>A
|
|
|
NM_001145536.2(C17orf107):c.*1811G>T
|
|
|
NM_001145536.2(C17orf107):c.*1897A>T
|
|
|
NM_001145536.2(C17orf107):c.*1900C>T
|
|
|
NM_001145536.2(C17orf107):c.*1910G>A
|
|
|
NM_001145536.2(C17orf107):c.*1965C>T
|
|
|
NM_001145536.2(C17orf107):c.*1968A>G
|
rs2151098764
|
|
NM_001145536.2(C17orf107):c.*1970G>C
|
|
|
NM_001145536.2(C17orf107):c.*1971G>A
|
rs2151098767
|
|
NM_001145536.2(C17orf107):c.*1974G>C
|
|
|
NM_001145536.2(C17orf107):c.*1978G>C
|
|
|
NM_001145536.2(C17orf107):c.*2072G>T
|
|
|
NM_001145536.2(C17orf107):c.*2074T>G
|
|
|
NM_001145536.2(C17orf107):c.*2075G>A
|
|
|
NM_001145536.2(C17orf107):c.*2076G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>A
|
|
|
NM_001145536.2(C17orf107):c.*2078G>C
|
rs1341882862
|
|
NM_001145536.2(C17orf107):c.*2078G>T
|
|
|
NM_001145536.2(C17orf107):c.*2079G>T
|
|
|
NM_001145536.2(C17orf107):c.*2081dup
|
|
|
NM_001145536.2(C17orf107):c.*2234C>T
|
rs767084417
|
|
NM_001145536.2(C17orf107):c.*2236A>G
|
|
|
NM_001145536.2(C17orf107):c.*2241G>A
|
|
|
NM_001145536.2(C17orf107):c.*2244A>G
|
|
|
NM_001145536.2(C17orf107):c.*240C>T
|
|
|
NM_001145536.2(C17orf107):c.*241G>T
|
|
|
NM_001145536.2(C17orf107):c.*242C>T
|
|
|
NM_001145536.2(C17orf107):c.*243G>A
|
|
|
NM_001145536.2(C17orf107):c.*243G>C
|
|
|
NM_001145536.2(C17orf107):c.*244G>A
|
|
|
NM_001145536.2(C17orf107):c.*245G>A
|
|
|
NM_001145536.2(C17orf107):c.*247G>A
|
|
|
NM_001145536.2(C17orf107):c.*247dup
|
rs772869952
|
|
NM_001145536.2(C17orf107):c.*251C>T
|
rs754325287
|
|
NM_001145536.2(C17orf107):c.*252G>A
|
rs1337368697
|
|
NM_001145536.2(C17orf107):c.*253G>T
|
|
|
NM_001145536.2(C17orf107):c.*381_*390dup
|
rs767922649
|
|
NM_001145536.2(C17orf107):c.*384G>A
|
rs1326169288
|
|
NM_001145536.2(C17orf107):c.*384G>C
|
|
|
NM_001145536.2(C17orf107):c.*386G>A
|
|
|
NM_001145536.2(C17orf107):c.*386G>C
|
|
|
NM_001145536.2(C17orf107):c.*386del
|
|
|
NM_001145536.2(C17orf107):c.*388_*397dup
|
|
|
NM_001145536.2(C17orf107):c.*389A>G
|
|
|
NM_001145536.2(C17orf107):c.*390G>T
|
|
|
NM_001145536.2(C17orf107):c.*439T>C
|
|
|
NM_001145536.2(C17orf107):c.*439T>G
|
|
|
NM_001145536.2(C17orf107):c.*441C>T
|
|
|
NM_001145536.2(C17orf107):c.*442G>C
|
|
|
NM_001145536.2(C17orf107):c.*445G>A
|
|
|
NM_001145536.2(C17orf107):c.*447C>T
|
rs2151097179
|
|
NM_001145536.2(C17orf107):c.*448A>C
|
rs199876621
|
|
NM_001145536.2(C17orf107):c.*661C>A
|
|
|
NM_001145536.2(C17orf107):c.*661C>T
|
|
|
NM_001145536.2(C17orf107):c.*662G>A
|
rs764599384
|
|
NM_001145536.2(C17orf107):c.*663G>A
|
|
|
NM_001145536.2(C17orf107):c.*664G>A
|
rs1298446963
|
|
NM_001145536.2(C17orf107):c.*664_*665insTC
|
|
|
NM_001145536.2(C17orf107):c.*666C>A
|
rs1382185555
|
|
NM_001145536.2(C17orf107):c.*667G>C
|
rs765175027
|
|
NM_001145536.2(C17orf107):c.*668G>T
|
|
|
NM_001145536.2(C17orf107):c.*669G>A
|
|
|
NM_001145536.2(C17orf107):c.*670G>A
|
|
|
NM_001145536.2(C17orf107):c.*671G>A
|
|
|
NM_001145536.2(C17orf107):c.*671G>C
|
|
|
NM_001145536.2(C17orf107):c.*671G>T
|
rs202127846
|
|
NM_001145536.2(C17orf107):c.*671del
|
rs2151097507
|
|
NM_001145536.2(C17orf107):c.*674C>T
|
|
|
NM_001145536.2(C17orf107):c.*675G>A
|
|
|
NM_001145536.2(C17orf107):c.*676G>A
|
|
|
NM_001145536.2(C17orf107):c.*973del
|
|
|
NM_001145536.2(C17orf107):c.*978G>A
|
|
|
NM_001145536.2(C17orf107):c.*978G>C
|
|
|
NM_001145536.2(C17orf107):c.*983G>A
|
rs2151097723
|
|
NM_001145536.2(C17orf107):c.*985G>T
|
rs748517215
|
|
NM_001145536.2(C17orf107):c.-162A>G
|
|
|
NM_001145536.2(C17orf107):c.-164G>A
|
|
|
NM_001145536.2(C17orf107):c.-164G>T
|
|
|
NM_001145536.2(C17orf107):c.-165G>A
|
|
|
NM_001145536.2(C17orf107):c.-167A>C
|
|
|
NM_001145536.2(C17orf107):c.-168G>A
|
|
|
NM_001145536.2(C17orf107):c.-169G>A
|
|
|
NM_001145536.2(C17orf107):c.-171C>G
|
|
|
NM_001145536.2(C17orf107):c.-172C>T
|
rs2151095352
|
|
NM_001145536.2(C17orf107):c.-173G>C
|
rs1597615600
|
|
NM_001145536.2(C17orf107):c.-175G>A
|
|
|
NM_001145536.2(C17orf107):c.-176G>A
|
rs1386033276
|
|
NM_001145536.2(C17orf107):c.-177A>G
|
rs1300080950
|
|
NM_001171613.2(PREPL):c.-29A>G
|
|
|
NM_001171613.2(PREPL):c.-2A>G
|
rs2104023319
|
|
NM_001171613.2(PREPL):c.-31_-28del
|
rs1553360075
|
|
NM_001171613.2(PREPL):c.-36G>C
|
rs147513483
|
|
NM_001171613.2(PREPL):c.-48-10C>T
|
rs2104024279
|
|
NM_001171613.2(PREPL):c.-48-2A>G
|
rs753545038
|
|
NM_001171613.2(PREPL):c.-48-2A>T
|
|
|
NM_001171613.2(PREPL):c.-48-7T>C
|
|
|
NM_001171613.2(PREPL):c.-48-9T>C
|
|
|
NM_001171613.2(PREPL):c.-49+1665A>C
|
rs766377212
|
|
NM_001171613.2(PREPL):c.-49+1665A>G
|
rs766377212
|
|
NM_001171613.2(PREPL):c.-49+1673G>A
|
rs757367125
|
|
NM_001171613.2(PREPL):c.-49+1676G>C
|
rs760360976
|
|
NM_001171613.2(PREPL):c.-49+1689C>T
|
rs2104272169
|
|
NM_001171613.2(PREPL):c.-49+1691C>T
|
rs943164834
|
|
NM_001171613.2(PREPL):c.-49+1696C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1719C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1743C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1749A>T
|
rs1211012506
|
|
NM_001171613.2(PREPL):c.-49+1760C>T
|
rs2104270696
|
|
NM_001171613.2(PREPL):c.-49+1761T>G
|
|
|
NM_001171613.2(PREPL):c.-49+1763C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1765C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1778C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1783G>C
|
rs1572594874
|
|
NM_001171613.2(PREPL):c.-49+1784A>G
|
rs773880492
|
|
NM_001171613.2(PREPL):c.-49+1784A>T
|
rs773880492
|
|
NM_001171613.2(PREPL):c.-49+1791T>C
|
|
|
NM_001171613.2(PREPL):c.-49+1793G>A
|
rs779251130
|
|
NM_001171613.2(PREPL):c.-49+1802T>A
|
rs2104270031
|
|
NM_001171613.2(PREPL):c.-49+1806C>A
|
rs749323802
|
|
NM_001171613.2(PREPL):c.-49+1806C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1810C>G
|
|
|
NM_001171613.2(PREPL):c.-49+1826dup
|
|
|
NM_001171613.2(PREPL):c.-49+1830C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1839T>A
|
|
|
NM_001171613.2(PREPL):c.-49+1840C>T
|
|
|
NM_001171613.2(PREPL):c.-49+1843_-49+1844del
|
|
|
NM_001171613.2(PREPL):c.-49+1867G>A
|
|
|
NM_001171613.2(PREPL):c.-49+1891C>A
|
|
|
NM_001171613.2(PREPL):c.-49+1893_-49+1896del
|
rs1572594172
|
|
NM_001171613.2(PREPL):c.1013T>C (p.Leu338Pro)
|
rs750867025
|
|
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=)
|
rs2103838543
|
|
NM_001171613.2(PREPL):c.1022A>G (p.Glu341Gly)
|
rs1674225235
|
|
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=)
|
|
|
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)
|
|
|
NM_001171613.2(PREPL):c.1033G>A (p.Glu345Lys)
|
|
|
NM_001171613.2(PREPL):c.1038C>G (p.Asp346Glu)
|
rs1674223059
|
|
NM_001171613.2(PREPL):c.105A>G (p.Gln35=)
|
|
|
NM_001171613.2(PREPL):c.1067G>A (p.Arg356His)
|
|
|
NM_001171613.2(PREPL):c.1067G>T (p.Arg356Leu)
|
|
|
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)
|
|
|
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=)
|
|
|
NM_001171613.2(PREPL):c.1086+11T>A
|
rs747536626
|
|
NM_001171613.2(PREPL):c.1086+18C>A
|
|
|
NM_001171613.2(PREPL):c.1086+19A>G
|
|
|
NM_001171613.2(PREPL):c.1086+2T>C
|
|
|
NM_001171613.2(PREPL):c.1087-20T>C
|
|
|
NM_001171613.2(PREPL):c.1087-22_1087-19del
|
rs781594204
|
|
NM_001171613.2(PREPL):c.1087-4C>G
|
rs1572857344
|
|
NM_001171613.2(PREPL):c.1087G>T (p.Asp363Tyr)
|
|
|
NM_001171613.2(PREPL):c.1104A>G (p.Pro368=)
|
|
|
NM_001171613.2(PREPL):c.1106T>C (p.Met369Thr)
|
|
|
NM_001171613.2(PREPL):c.1111G>A (p.Val371Ile)
|
|
|
NM_001171613.2(PREPL):c.1113T>G (p.Val371=)
|
|
|
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=)
|
|
|
NM_001171613.2(PREPL):c.1137C>G (p.Asp379Glu)
|
|
|
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)
|
|
|
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=)
|
|
|
NM_001171613.2(PREPL):c.1153C>T (p.Leu385Phe)
|
|
|
NM_001171613.2(PREPL):c.1175C>G (p.Ala392Gly)
|
|
|
NM_001171613.2(PREPL):c.117C>T (p.Cys39=)
|
|
|
NM_001171613.2(PREPL):c.1214G>A (p.Arg405Lys)
|
|
|
NM_001171613.2(PREPL):c.1217G>A (p.Arg406Gln)
|
|
|
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=)
|
rs2103786137
|
|
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)
|
|
|
NM_001171613.2(PREPL):c.1235G>T (p.Gly412Val)
|
rs1673812684
|
|
NM_001171613.2(PREPL):c.1237T>C (p.Trp413Arg)
|
|
|
NM_001171613.2(PREPL):c.1240A>T (p.Ile414Leu)
|
rs2103785706
|
|
NM_001171613.2(PREPL):c.1242A>G (p.Ile414Met)
|
|
|
NM_001171613.2(PREPL):c.1250_1251del (p.Tyr417fs)
|
|
|
NM_001171613.2(PREPL):c.125G>A (p.Arg42His)
|
|
|
NM_001171613.2(PREPL):c.1261C>T (p.Arg421Ter)
|
rs779879227
|
|
NM_001171613.2(PREPL):c.1262+19C>T
|
|
|
NM_001171613.2(PREPL):c.1263-7A>G
|
|
|
NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser)
|
rs1470419476
|
|
NM_001171613.2(PREPL):c.126T>C (p.Arg42=)
|
|
|
NM_001171613.2(PREPL):c.1293C>A (p.His431Gln)
|
|
|
NM_001171613.2(PREPL):c.1293C>T (p.His431=)
|
rs760961704
|
|
NM_001171613.2(PREPL):c.1295C>T (p.Ala432Val)
|
|
|
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=)
|
|
|
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=)
|
rs376023108
|
|
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)
|
|
|
NM_001171613.2(PREPL):c.1312A>G (p.Lys438Glu)
|
rs1673555028
|
|
NM_001171613.2(PREPL):c.1355C>T (p.Thr452Met)
|
rs774180242
|
|
NM_001171613.2(PREPL):c.135T>C (p.Asp45=)
|
|
|
NM_001171613.2(PREPL):c.1360C>T (p.His454Tyr)
|
|
|
NM_001171613.2(PREPL):c.1369G>A (p.Gly457Ser)
|
rs2103751191
|
|
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=)
|
rs2103751150
|
|
NM_001171613.2(PREPL):c.1409G>A (p.Ser470Asn)
|
rs2103750576
|
|
NM_001171613.2(PREPL):c.1413T>A (p.Ala471=)
|
|
|
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=)
|
|
|
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)
|
|
|
NM_001171613.2(PREPL):c.142+11A>G
|
|
|
NM_001171613.2(PREPL):c.142+12T>G
|
|
|
NM_001171613.2(PREPL):c.142+5dup
|
|
|
NM_001171613.2(PREPL):c.142+7C>G
|
|
|
NM_001171613.2(PREPL):c.142G>A (p.Ala48Thr)
|
rs267599387
|
|
NM_001171613.2(PREPL):c.143-11del
|
rs1558508562
|
|
NM_001171613.2(PREPL):c.143-16A>C
|
|
|
NM_001171613.2(PREPL):c.143-19C>A
|
|
|
NM_001171613.2(PREPL):c.143-3C>A
|
|
|
NM_001171613.2(PREPL):c.143-3C>T
|
rs545943181
|
|
NM_001171613.2(PREPL):c.1433C>T (p.Ala478Val)
|
rs1202291365
|
|
NM_001171613.2(PREPL):c.1436T>C (p.Leu479Ser)
|
|
|
NM_001171613.2(PREPL):c.1445C>A (p.Ser482Tyr)
|
rs13402626
|
|
NM_001171613.2(PREPL):c.1445C>T (p.Ser482Phe)
|
|
|
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=)
|
|
|
NM_001171613.2(PREPL):c.1479+20A>G
|
|
|
NM_001171613.2(PREPL):c.1479+9G>A
|
|
|
NM_001171613.2(PREPL):c.1480-15T>C
|
|
|
NM_001171613.2(PREPL):c.1480-3del
|
rs763329621
|
|
NM_001171613.2(PREPL):c.1480-7T>C
|
|
|
NM_001171613.2(PREPL):c.1512G>T (p.Met504Ile)
|
rs1396221301
|
|
NM_001171613.2(PREPL):c.1514A>G (p.Asp505Gly)
|
rs772992697
|
|
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)
|
|
|
NM_001171613.2(PREPL):c.1521_1522dup (p.Leu508fs)
|
rs1355856142
|
|
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=)
|
rs2103696019
|
|
NM_001171613.2(PREPL):c.1568C>G (p.Ser523Cys)
|
rs1673168126
|
|
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=)
|
rs1181427435
|
|
NM_001171613.2(PREPL):c.1594A>G (p.Lys532Glu)
|
|
|
NM_001171613.2(PREPL):c.1598G>A (p.Arg533His)
|
rs375292548
|
|
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu)
|
rs375292548
|
|
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)
|
|
|
NM_001171613.2(PREPL):c.1624C>T (p.Pro542Ser)
|
rs1436277134
|
|
NM_001171613.2(PREPL):c.1629+11A>T
|
|
|
NM_001171613.2(PREPL):c.1629+13A>G
|
rs772363126
|
|
NM_001171613.2(PREPL):c.1629+5T>G
|
rs777121021
|
|
NM_001171613.2(PREPL):c.1629+9A>G
|
rs1247136692
|
|
NM_001171613.2(PREPL):c.1630-16A>G
|
|
|
NM_001171613.2(PREPL):c.1630-4_1630-3delinsAT
|
rs1673117158
|
|
NM_001171613.2(PREPL):c.1630-5T>C
|
rs2103687602
|
|
NM_001171613.2(PREPL):c.1636C>A (p.Pro546Thr)
|
|
|
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
|
|
|
NM_001171613.2(PREPL):c.1666G>T (p.Asp556Tyr)
|
|
|
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)
|
|
|
NM_001171613.2(PREPL):c.1677A>G (p.Val559=)
|
rs913408771
|
|
NM_001171613.2(PREPL):c.167del (p.Leu56fs)
|
rs775517492
|
|
NM_001171613.2(PREPL):c.1688G>A (p.Gly563Glu)
|
|
|
NM_001171613.2(PREPL):c.1691T>C (p.Ile564Thr)
|
|
|
NM_001171613.2(PREPL):c.1725C>G (p.Ile575Met)
|
|
|
NM_001171613.2(PREPL):c.1728G>A (p.Ala576=)
|
rs757091047
|
|
NM_001171613.2(PREPL):c.1728G>T (p.Ala576=)
|
rs757091047
|
|
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)
|
rs983509465
|
|
NM_001171613.2(PREPL):c.1753+13dup
|
rs750536957
|
|
NM_001171613.2(PREPL):c.1753+2T>C
|
|
|
NM_001171613.2(PREPL):c.1753+8A>T
|
rs1553350931
|
|
NM_001171613.2(PREPL):c.1754-7C>T
|
|
|
NM_001171613.2(PREPL):c.175T>C (p.Leu59=)
|
|
|
NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser)
|
rs1672994938
|
|
NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del)
|
rs777599665
|
|
NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)
|
|
|
NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg)
|
rs1672990690
|
|
NM_001171613.2(PREPL):c.1798A>C (p.Asn600His)
|
rs770897811
|
|
NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)
|
|
|
NM_001171613.2(PREPL):c.179A>G (p.Glu60Gly)
|
rs1207275366
|
|
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
|
|
|
NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu)
|
rs2103667636
|
|
NM_001171613.2(PREPL):c.1827+10C>G
|
rs1295732711
|
|
NM_001171613.2(PREPL):c.1827+11A>T
|
|
|
NM_001171613.2(PREPL):c.1827+16C>T
|
|
|
NM_001171613.2(PREPL):c.1827+3A>G
|
rs1228947728
|
|
NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001171613.2(PREPL):c.1827+8A>T
|
|
|
NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)
|
|
|
NM_001171613.2(PREPL):c.1828-13G>A
|
|
|
NM_001171613.2(PREPL):c.1828-14T>C
|
|
|
NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG
|
|
|
NM_001171613.2(PREPL):c.1828-7C>A
|
rs781459763
|
|
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)
|
rs574404474
|
|
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
|
|
|
NM_001171613.2(PREPL):c.1839A>T (p.Gln613His)
|
rs574404474
|
|
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=)
|
rs776568419
|
|
NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro)
|
rs537620020
|
|
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=)
|
rs771707341
|
|
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
|
|
|
NM_001171613.2(PREPL):c.1870G>C (p.Asp624His)
|
rs969589260
|
|
NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe)
|
rs1433913896
|
|
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter)
|
rs759556547
|
|
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
|
|
|
NM_001171613.2(PREPL):c.196C>T (p.Gln66Ter)
|
rs2103986758
|
|
NM_001171613.2(PREPL):c.198G>A (p.Gln66=)
|
rs778184072
|
|
NM_001171613.2(PREPL):c.211T>A (p.Cys71Ser)
|
|
|
NM_001171613.2(PREPL):c.216C>T (p.Ile72=)
|
|
|
NM_001171613.2(PREPL):c.220G>C (p.Val74Leu)
|
rs370857739
|
|
NM_001171613.2(PREPL):c.221T>G (p.Val74Gly)
|
rs1572895694
|
|
NM_001171613.2(PREPL):c.229G>C (p.Asp77His)
|
|
|
NM_001171613.2(PREPL):c.238T>C (p.Tyr80His)
|
rs2103986081
|
|
NM_001171613.2(PREPL):c.241G>T (p.Val81Leu)
|
|
|
NM_001171613.2(PREPL):c.249C>T (p.Ala83=)
|
|
|
NM_001171613.2(PREPL):c.252G>C (p.Lys84Asn)
|
|
|
NM_001171613.2(PREPL):c.270T>C (p.Ser90=)
|
|
|
NM_001171613.2(PREPL):c.27A>G (p.Thr9=)
|
|
|
NM_001171613.2(PREPL):c.280A>G (p.Thr94Ala)
|
|
|
NM_001171613.2(PREPL):c.282C>T (p.Thr94=)
|
|
|
NM_001171613.2(PREPL):c.292A>G (p.Ile98Val)
|
rs2103985444
|
|
NM_001171613.2(PREPL):c.300C>T (p.Leu100=)
|
|
|
NM_001171613.2(PREPL):c.303C>A (p.Ser101Arg)
|
rs538321114
|
|
NM_001171613.2(PREPL):c.304G>A (p.Asp102Asn)
|
rs761397318
|
|
NM_001171613.2(PREPL):c.304G>C (p.Asp102His)
|
|
|
NM_001171613.2(PREPL):c.312C>T (p.Pro104=)
|
rs11542603
|
|
NM_001171613.2(PREPL):c.31T>G (p.Leu11Val)
|
rs2104022746
|
|
NM_001171613.2(PREPL):c.326C>G (p.Ser109Cys)
|
|
|
NM_001171613.2(PREPL):c.333G>A (p.Pro111=)
|
rs111330295
|
|
NM_001171613.2(PREPL):c.336T>C (p.Asn112=)
|
rs772575204
|
|
NM_001171613.2(PREPL):c.342C>T (p.Ser114=)
|
|
|
NM_001171613.2(PREPL):c.348T>G (p.Phe116Leu)
|
rs768746948
|
|
NM_001171613.2(PREPL):c.349+16A>G
|
rs1675475052
|
|
NM_001171613.2(PREPL):c.350-10_350-8del
|
rs751258871
|
|
NM_001171613.2(PREPL):c.350-12_350-10del
|
rs61004197
|
|
NM_001171613.2(PREPL):c.350-13T>G
|
|
|
NM_001171613.2(PREPL):c.350-16C>G
|
|
|
NM_001171613.2(PREPL):c.350-19T>C
|
|
|
NM_001171613.2(PREPL):c.350-1G>T
|
|
|
NM_001171613.2(PREPL):c.355G>T (p.Val119Leu)
|
rs1675337911
|
|
NM_001171613.2(PREPL):c.360G>A (p.Lys120=)
|
rs2103969592
|
|
NM_001171613.2(PREPL):c.380T>C (p.Val127Ala)
|
rs2103969323
|
|
NM_001171613.2(PREPL):c.390C>T (p.Tyr130=)
|
rs2103969128
|
|
NM_001171613.2(PREPL):c.396C>T (p.Phe132=)
|
rs1192368554
|
|
NM_001171613.2(PREPL):c.3G>T (p.Met1Ile)
|
rs768841224
|
|
NM_001171613.2(PREPL):c.402G>C (p.Arg134Ser)
|
rs769834327
|
|
NM_001171613.2(PREPL):c.405C>A (p.Asn135Lys)
|
rs1675332417
|
|
NM_001171613.2(PREPL):c.406C>G (p.Leu136Val)
|
rs1675332243
|
|
NM_001171613.2(PREPL):c.409C>T (p.Arg137Cys)
|
|
|
NM_001171613.2(PREPL):c.416A>C (p.His139Pro)
|
|
|
NM_001171613.2(PREPL):c.421G>A (p.Val141Ile)
|
|
|
NM_001171613.2(PREPL):c.425A>T (p.Tyr142Phe)
|
rs778744293
|
|
NM_001171613.2(PREPL):c.432C>T (p.Ala144=)
|
|
|
NM_001171613.2(PREPL):c.434C>G (p.Thr145Ser)
|
|
|
NM_001171613.2(PREPL):c.440G>C (p.Gly147Ala)
|
|
|
NM_001171613.2(PREPL):c.448_451del (p.Lys150fs)
|
rs779488471
|
|
NM_001171613.2(PREPL):c.465T>C (p.Phe155=)
|
|
|
NM_001171613.2(PREPL):c.470C>G (p.Thr157Arg)
|
rs374720840
|
|
NM_001171613.2(PREPL):c.485+10T>A
|
|
|
NM_001171613.2(PREPL):c.485+4del
|
|
|
NM_001171613.2(PREPL):c.485+8A>G
|
rs2103967683
|
|
NM_001171613.2(PREPL):c.485+9A>G
|
|
|
NM_001171613.2(PREPL):c.486-10C>T
|
|
|
NM_001171613.2(PREPL):c.486-18CT[6]
|
rs750292662
|
|
NM_001171613.2(PREPL):c.486-18CT[7]
|
rs750292662
|
|
NM_001171613.2(PREPL):c.486-18CT[9]
|
rs750292662
|
|
NM_001171613.2(PREPL):c.486-19T>A
|
|
|
NM_001171613.2(PREPL):c.486-4C>G
|
rs1217024448
|
|
NM_001171613.2(PREPL):c.498C>T (p.Phe166=)
|
rs1230569140
|
|
NM_001171613.2(PREPL):c.505C>G (p.Leu169Val)
|
rs532684912
|
|
NM_001171613.2(PREPL):c.505C>T (p.Leu169Phe)
|
|
|
NM_001171613.2(PREPL):c.509C>T (p.Thr170Ile)
|
rs1674971927
|
|
NM_001171613.2(PREPL):c.520C>G (p.Arg174Gly)
|
|
|
NM_001171613.2(PREPL):c.521G>A (p.Arg174His)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.521G>T (p.Arg174Leu)
|
rs145964404
|
|
NM_001171613.2(PREPL):c.525C>T (p.Phe175=)
|
|
|
NM_001171613.2(PREPL):c.539T>G (p.Ile180Ser)
|
|
|
NM_001171613.2(PREPL):c.540T>C (p.Ile180=)
|
|
|
NM_001171613.2(PREPL):c.546C>A (p.Asn182Lys)
|
rs200837029
|
|
NM_001171613.2(PREPL):c.549G>A (p.Lys183=)
|
rs2103926652
|
|
NM_001171613.2(PREPL):c.564G>A (p.Val188=)
|
rs1293632946
|
|
NM_001171613.2(PREPL):c.572T>G (p.Ile191Arg)
|
rs1363159797
|
|
NM_001171613.2(PREPL):c.574G>A (p.Asp192Asn)
|
|
|
NM_001171613.2(PREPL):c.579C>T (p.Gly193=)
|
|
|
NM_001171613.2(PREPL):c.595C>G (p.Pro199Ala)
|
|
|
NM_001171613.2(PREPL):c.608T>C (p.Ile203Thr)
|
rs947027506
|
|
NM_001171613.2(PREPL):c.623A>G (p.His208Arg)
|
|
|
NM_001171613.2(PREPL):c.634del (p.Tyr212fs)
|
rs2103925424
|
|
NM_001171613.2(PREPL):c.638A>C (p.Tyr213Ser)
|
rs947243243
|
|
NM_001171613.2(PREPL):c.640G>C (p.Val214Leu)
|
|
|
NM_001171613.2(PREPL):c.641T>A (p.Val214Asp)
|
|
|
NM_001171613.2(PREPL):c.652G>A (p.Asp218Asn)
|
|
|
NM_001171613.2(PREPL):c.657T>G (p.Asp219Glu)
|
rs762650967
|
|
NM_001171613.2(PREPL):c.672C>T (p.Leu224=)
|
|
|
NM_001171613.2(PREPL):c.68A>C (p.Asn23Thr)
|
rs138377728
|
|
NM_001171613.2(PREPL):c.699T>G (p.Phe233Leu)
|
|
|
NM_001171613.2(PREPL):c.702+10G>A
|
|
|
NM_001171613.2(PREPL):c.702+16C>T
|
|
|
NM_001171613.2(PREPL):c.702+17G>T
|
|
|
NM_001171613.2(PREPL):c.702+19T>A
|
|
|
NM_001171613.2(PREPL):c.702+20G>T
|
|
|
NM_001171613.2(PREPL):c.702+7C>T
|
rs1674951448
|
|
NM_001171613.2(PREPL):c.703-15C>G
|
|
|
NM_001171613.2(PREPL):c.703-20T>G
|
rs1028855087
|
|
NM_001171613.2(PREPL):c.703-2A>G
|
rs2103914962
|
|
NM_001171613.2(PREPL):c.703-6A>G
|
|
|
NM_001171613.2(PREPL):c.703-7C>G
|
rs1674874642
|
|
NM_001171613.2(PREPL):c.705A>C (p.Leu235=)
|
|
|
NM_001171613.2(PREPL):c.705A>G (p.Leu235=)
|
|
|
NM_001171613.2(PREPL):c.709A>C (p.Arg237=)
|
|
|
NM_001171613.2(PREPL):c.721G>A (p.Asp241Asn)
|
rs1674871167
|
|
NM_001171613.2(PREPL):c.725C>G (p.Thr242Ser)
|
|
|
NM_001171613.2(PREPL):c.727C>A (p.Pro243Thr)
|
rs760265313
|
|
NM_001171613.2(PREPL):c.727C>T (p.Pro243Ser)
|
|
|
NM_001171613.2(PREPL):c.75+10C>T
|
|
|
NM_001171613.2(PREPL):c.75+5G>C
|
|
|
NM_001171613.2(PREPL):c.75+9T>C
|
|
|
NM_001171613.2(PREPL):c.759A>G (p.Thr253=)
|
rs1424550193
|
|
NM_001171613.2(PREPL):c.75del (p.Val26fs)
|
rs1675812434
|
|
NM_001171613.2(PREPL):c.76-10C>T
|
rs1470050624
|
|
NM_001171613.2(PREPL):c.76-14G>A
|
|
|
NM_001171613.2(PREPL):c.76-17C>T
|
|
|
NM_001171613.2(PREPL):c.765G>A (p.Lys255=)
|
|
|
NM_001171613.2(PREPL):c.774A>C (p.Thr258=)
|
|
|
NM_001171613.2(PREPL):c.775A>G (p.Lys259Glu)
|
|
|
NM_001171613.2(PREPL):c.778G>T (p.Val260Leu)
|
rs1674865285
|
|
NM_001171613.2(PREPL):c.780G>C (p.Val260=)
|
|
|
NM_001171613.2(PREPL):c.792C>T (p.Asp264=)
|
rs1572881157
|
|
NM_001171613.2(PREPL):c.816A>G (p.Leu272=)
|
|
|
NM_001171613.2(PREPL):c.825G>A (p.Lys275=)
|
|
|
NM_001171613.2(PREPL):c.826C>T (p.His276Tyr)
|
rs1456483986
|
|
NM_001171613.2(PREPL):c.828C>T (p.His276=)
|
|
|
NM_001171613.2(PREPL):c.850G>A (p.Val284Met)
|
rs774240653
|
|
NM_001171613.2(PREPL):c.867T>C (p.Asp289=)
|
|
|
NM_001171613.2(PREPL):c.874G>C (p.Val292Leu)
|
|
|
NM_001171613.2(PREPL):c.877C>T (p.Arg293Trp)
|
rs745708452
|
|
NM_001171613.2(PREPL):c.888+10A>T
|
|
|
NM_001171613.2(PREPL):c.888+12T>G
|
|
|
NM_001171613.2(PREPL):c.888+13T>C
|
|
|
NM_001171613.2(PREPL):c.888+4del
|
rs2103912340
|
|
NM_001171613.2(PREPL):c.888+8T>C
|
|
|
NM_001171613.2(PREPL):c.889-11T>A
|
|
|
NM_001171613.2(PREPL):c.889-17C>G
|
|
|
NM_001171613.2(PREPL):c.889-17_889-15del
|
|
|
NM_001171613.2(PREPL):c.889-20T>C
|
|
|
NM_001171613.2(PREPL):c.908G>A (p.Gly303Glu)
|
rs1253183224
|
|
NM_001171613.2(PREPL):c.912C>T (p.Phe304=)
|
rs2103839981
|
|
NM_001171613.2(PREPL):c.915A>G (p.Ile305Met)
|
|
|
NM_001171613.2(PREPL):c.920A>T (p.Asp307Val)
|
rs1674235649
|
|
NM_001171613.2(PREPL):c.932A>G (p.Asp311Gly)
|
|
|
NM_001171613.2(PREPL):c.934C>T (p.Pro312Ser)
|
|
|
NM_001171613.2(PREPL):c.939G>T (p.Lys313Asn)
|
|
|
NM_001171613.2(PREPL):c.970C>T (p.Arg324Cys)
|
rs770607340
|
|
NM_001171613.2(PREPL):c.971G>T (p.Arg324Leu)
|
rs374093145
|
|
NM_001171613.2(PREPL):c.97T>G (p.Tyr33Asp)
|
|
|
NM_001171613.2(PREPL):c.981A>G (p.Lys327=)
|
rs2103839067
|
|
NM_001171613.2(PREPL):c.983A>G (p.Tyr328Cys)
|
|
|
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=)
|
|
|
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=)
|
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.*22C>T
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.1009+17T>A
|
|
|
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
|
|
|
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
|
|
|
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
|
|
|
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=)
|
rs2104631088
|
|
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=)
|
rs1458911769
|
|
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
|
|
|
NM_001244710.2(GFPT1):c.1105+1G>A
|
rs1553389102
|
|
NM_001244710.2(GFPT1):c.1105+7A>T
|
|
|
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
|
|
|
NM_001244710.2(GFPT1):c.1106-1G>T
|
rs1670970306
|
|
NM_001244710.2(GFPT1):c.1106-9T>C
|
|
|
NM_001244710.2(GFPT1):c.115+15A>G
|
rs1401182899
|
|
NM_001244710.2(GFPT1):c.115+15dup
|
rs758929556
|
|
NM_001244710.2(GFPT1):c.115+17A>G
|
|
|
NM_001244710.2(GFPT1):c.115+20A>G
|
|
|
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln)
|
rs1670968909
|
|
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser)
|
rs1671812593
|
|
NM_001244710.2(GFPT1):c.116-12A>G
|
rs540758570
|
|
NM_001244710.2(GFPT1):c.116-19T>C
|
|
|
NM_001244710.2(GFPT1):c.116-6G>C
|
rs762154144
|
|
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala)
|
rs1553388425
|
|
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly)
|
rs1553388422
|
|
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe)
|
rs1553388418
|
|
NM_001244710.2(GFPT1):c.1204-13A>G
|
|
|
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
|
|
|
NM_001244710.2(GFPT1):c.1204-3C>T
|
rs1307653021
|
|
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=)
|
rs1339146756
|
|
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val)
|
rs1670858310
|
|
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser)
|
rs2104617186
|
|
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=)
|
rs1168233879
|
|
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=)
|
rs1574080849
|
|
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs)
|
rs2104617143
|
|
NM_001244710.2(GFPT1):c.1291C>T (p.Arg431Ter)
|
|
|
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
|
|
|
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
|
|
|
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)
|
rs766450555
|
|
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=)
|
rs1196976693
|
|
NM_001244710.2(GFPT1):c.1324+10_1324+15del
|
rs777934882
|
|
NM_001244710.2(GFPT1):c.1324+13del
|
rs113734896
|
|
NM_001244710.2(GFPT1):c.1324+9A>C
|
|
|
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=)
|
rs2104616321
|
|
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala)
|
rs1287808167
|
|
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=)
|
rs968995023
|
|
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
|
|
|
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup)
|
rs1558773904
|
|
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
|
|
|
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
|
|
|
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
|
|
|
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe)
|
rs1670840972
|
|
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)
|
|
|
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
|
|
|
NM_001244710.2(GFPT1):c.1483-10G>A
|
|
|
NM_001244710.2(GFPT1):c.1483-13del
|
|
|
NM_001244710.2(GFPT1):c.1483-18T>C
|
|
|
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser)
|
rs1670617199
|
|
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn)
|
rs1553386276
|
|
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp)
|
rs2104600845
|
|
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=)
|
rs767370476
|
|
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys)
|
rs1421146245
|
|
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
|
|
|
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
|
|
|
NM_001244710.2(GFPT1):c.1597+15dup
|
rs2104600661
|
|
NM_001244710.2(GFPT1):c.1598-16T>A
|
|
|
NM_001244710.2(GFPT1):c.1598-5C>A
|
|
|
NM_001244710.2(GFPT1):c.1598-8C>T
|
|
|
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)
|
|
|
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=)
|
rs2104600073
|
|
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
|
|
|
NM_001244710.2(GFPT1):c.1687C>T (p.Arg563Ter)
|
|
|
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
|
|
|
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
|
|
|
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
|
|
|
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=)
|
rs2104599962
|
|
NM_001244710.2(GFPT1):c.1725+14G>C
|
|
|
NM_001244710.2(GFPT1):c.1726-16G>C
|
|
|
NM_001244710.2(GFPT1):c.1726-5A>G
|
|
|
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)
|
|
|
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)
|
|
|
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)
|
|
|
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
|
|
|
NM_001244710.2(GFPT1):c.1851T>G (p.Tyr617Ter)
|
|
|
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)
|
|
|
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)
|
|
|
NM_001244710.2(GFPT1):c.1894-9C>G
|
|
|
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln)
|
rs2104595615
|
|
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=)
|
rs1558725033
|
|
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly)
|
rs1670547736
|
|
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val)
|
rs1553385828
|
|
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala)
|
rs772026265
|
|
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val)
|
rs1574039131
|
|
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
|
|
|
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met)
|
rs781377676
|
|
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)
|
|
|
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg)
|
rs2104595457
|
|
NM_001244710.2(GFPT1):c.197_201del (p.Val66fs)
|
rs1558773839
|
|
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=)
|
rs1370889713
|
|
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro)
|
rs1670545826
|
|
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe)
|
rs2104595390
|
|
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)
|
|
|
NM_001244710.2(GFPT1):c.2031C>T (p.His677=)
|
rs2104595358
|
|
NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)
|
|
|
NM_001244710.2(GFPT1):c.2056-10C>T
|
rs201931307
|
|
NM_001244710.2(GFPT1):c.2056-10_2056-9del
|
rs778019023
|
|
NM_001244710.2(GFPT1):c.2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-11dup
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-12_2056-11del
|
rs201268947
|
|
NM_001244710.2(GFPT1):c.2056-4G>T
|
|
|
NM_001244710.2(GFPT1):c.2056-9T>G
|
|
|
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
|
|
|
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro)
|
rs1671705543
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001244710.2(GFPT1):c.224-11A>G
|
|
|
NM_001244710.2(GFPT1):c.224-18T>G
|
|
|
NM_001244710.2(GFPT1):c.224-20T>C
|
|
|
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)
|
|
|
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly)
|
rs1671535131
|
|
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
|
|
|
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
|
|
|
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys)
|
rs1553393940
|
|
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg)
|
rs1574074621
|
|
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly)
|
rs929836832
|
|
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg)
|
rs886056261
|
|
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly)
|
rs1671532532
|
|
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly)
|
rs539052842
|
|
NM_001244710.2(GFPT1):c.33T>C (p.His11=)
|
|
|
NM_001244710.2(GFPT1):c.349+17dup
|
rs780939646
|
|
NM_001244710.2(GFPT1):c.350-3T>C
|
|
|
NM_001244710.2(GFPT1):c.350-4_350-3del
|
|
|
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
|
|
|
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser)
|
rs1671414273
|
|
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=)
|
rs761321362
|
|
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
|
|
|
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
|
|
|
NM_001244710.2(GFPT1):c.408+11T>C
|
|
|
NM_001244710.2(GFPT1):c.408+12G>C
|
|
|
NM_001244710.2(GFPT1):c.408+12G>T
|
|
|
NM_001244710.2(GFPT1):c.408+14C>T
|
|
|
NM_001244710.2(GFPT1):c.408+5G>A
|
rs1558762013
|
|
NM_001244710.2(GFPT1):c.408+9G>A
|
|
|
NM_001244710.2(GFPT1):c.409-15del
|
rs753279036
|
|
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=)
|
rs1671392979
|
|
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
|
|
|
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
|
|
|
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
|
|
|
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly)
|
rs2104655675
|
|
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly)
|
rs2104655632
|
|
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)
|
rs775399768
|
|
NM_001244710.2(GFPT1):c.544-11T>C
|
|
|
NM_001244710.2(GFPT1):c.544-11dup
|
rs1242206987
|
|
NM_001244710.2(GFPT1):c.544-6C>T
|
|
|
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
|
|
|
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg)
|
rs370171865
|
|
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
|
|
|
NM_001244710.2(GFPT1):c.597T>C (p.Val199=)
|
rs2104652107
|
|
NM_001244710.2(GFPT1):c.606-19C>T
|
|
|
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp)
|
rs2104648108
|
|
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu)
|
rs1671287962
|
|
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=)
|
rs2104648039
|
|
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
|
|
|
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val)
|
rs2104648017
|
|
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
|
|
|
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
|
|
|
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=)
|
rs903308197
|
|
NM_001244710.2(GFPT1):c.685+18A>G
|
|
|
NM_001244710.2(GFPT1):c.686-12G>A
|
|
|
NM_001244710.2(GFPT1):c.686-15G>A
|
|
|
NM_001244710.2(GFPT1):c.686-18dup
|
|
|
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val)
|
rs2104647589
|
|
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp)
|
rs1164347284
|
|
NM_001244710.2(GFPT1):c.7+11C>T
|
|
|
NM_001244710.2(GFPT1):c.728_729del (p.Gln243fs)
|
|
|
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs)
|
rs1553390600
|
|
NM_001244710.2(GFPT1):c.739+19A>G
|
rs1335194019
|
|
NM_001244710.2(GFPT1):c.740-11A>G
|
rs769311395
|
|
NM_001244710.2(GFPT1):c.740-20A>G
|
|
|
NM_001244710.2(GFPT1):c.740-8T>C
|
rs2104639173
|
|
NM_001244710.2(GFPT1):c.741dup (p.Lys248fs)
|
|
|
NM_001244710.2(GFPT1):c.769_772del (p.Ser257fs)
|
rs2104639109
|
|
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly)
|
rs2104639027
|
|
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)
|
|
|
NM_001244710.2(GFPT1):c.845+13A>G
|
|
|
NM_001244710.2(GFPT1):c.845+15T>G
|
|
|
NM_001244710.2(GFPT1):c.845+6C>T
|
rs767647134
|
|
NM_001244710.2(GFPT1):c.846-13G>A
|
|
|
NM_001244710.2(GFPT1):c.846-17C>G
|
|
|
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)
|
|
|
NM_001244710.2(GFPT1):c.897T>C (p.Val299=)
|
rs2104635977
|
|
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs)
|
rs1671813157
|
|
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val)
|
rs372840289
|
|
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala)
|
rs2104635949
|
|
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu)
|
rs1553389515
|
|
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter)
|
rs2104635880
|
|
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
|
|
|
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp)
|
rs1671813015
|
|
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
|
|
|
NM_001244710.2(GFPT1):c.957C>T (p.His319=)
|
rs1574060474
|
|
NM_001244710.2(GFPT1):c.982C>T (p.Gln328Ter)
|
rs1558749457
|
|
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)
|
rs1946418638
|
|
NM_001382.4(DPAGT1):c.1005+1G>A
|
|
|
NM_001382.4(DPAGT1):c.1005+5C>T
|
|
|
NM_001382.4(DPAGT1):c.1005+6A>T
|
rs1592225596
|
|
NM_001382.4(DPAGT1):c.1006-6C>T
|
rs2134898608
|
|
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)
|
rs1555207196
|
|
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
|
|
|
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
|
|
|
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
|
|
|
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
|
|
|
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)
|
rs1475939080
|
|
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)
|
rs1946413563
|
|
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)
|
rs980077282
|
|
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)
|
rs1442358846
|
|
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)
|
rs1210999092
|
|
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)
|
rs2134897889
|
|
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)
|
rs2134897849
|
|
NM_001382.4(DPAGT1):c.1161+15C>T
|
rs775825050
|
|
NM_001382.4(DPAGT1):c.1161+18G>A
|
|
|
NM_001382.4(DPAGT1):c.1161+5G>A
|
rs1946410970
|
|
NM_001382.4(DPAGT1):c.1161+9G>A
|
rs1946410715
|
|
NM_001382.4(DPAGT1):c.1162-14A>G
|
|
|
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)
|
rs2134897349
|
|
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
|
|
|
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)
|
rs2134897273
|
|
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
|
|
|
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)
|
rs2134897091
|
|
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
|
|
|
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
|
|
|
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
|
|
|
NM_001382.4(DPAGT1):c.161+13A>G
|
|
|
NM_001382.4(DPAGT1):c.161+16C>T
|
|
|
NM_001382.4(DPAGT1):c.161+9C>T
|
|
|
NM_001382.4(DPAGT1):c.162-12G>A
|
|
|
NM_001382.4(DPAGT1):c.162-12G>C
|
|
|
NM_001382.4(DPAGT1):c.162-15G>A
|
|
|
NM_001382.4(DPAGT1):c.162-16T>C
|
rs2134916538
|
|
NM_001382.4(DPAGT1):c.162-18C>G
|
rs764930301
|
|
NM_001382.4(DPAGT1):c.162-18C>T
|
|
|
NM_001382.4(DPAGT1):c.162-20C>G
|
rs749879111
|
|
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
|
|
|
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
|
|
|
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)
|
rs1565766177
|
|
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)
|
rs1274896616
|
|
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
|
|
|
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)
|
rs781224323
|
|
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
|
|
|
NM_001382.4(DPAGT1):c.276C>T (p.His92=)
|
rs931405073
|
|
NM_001382.4(DPAGT1):c.282+12C>T
|
|
|
NM_001382.4(DPAGT1):c.282+17G>A
|
rs1236626939
|
|
NM_001382.4(DPAGT1):c.282+20T>C
|
|
|
NM_001382.4(DPAGT1):c.283-13G>A
|
|
|
NM_001382.4(DPAGT1):c.283-17G>A
|
|
|
NM_001382.4(DPAGT1):c.283-3C>A
|
|
|
NM_001382.4(DPAGT1):c.283-5C>T
|
|
|
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
|
|
|
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
|
|
|
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val)
|
rs1946489072
|
|
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
|
|
|
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=)
|
rs200885014
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
|
rs1315559074
|
|
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val)
|
rs1946487222
|
|
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)
|
rs2134913441
|
|
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile)
|
rs1946487020
|
|
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)
|
rs373044813
|
|
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)
|
rs1403883479
|
|
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
|
|
|
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
|
|
|
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
|
|
|
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
|
|
|
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)
|
rs1555207796
|
|
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
|
|
|
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
|
|
|
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln)
|
rs1946485389
|
|
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
|
|
|
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)
|
rs766131005
|
|
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
|
|
|
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)
|
rs1020413992
|
|
NM_001382.4(DPAGT1):c.497-4G>A
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.497-4G>C
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val)
|
rs2134911057
|
|
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
|
|
|
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
|
|
|
NM_001382.4(DPAGT1):c.643+17G>C
|
|
|
NM_001382.4(DPAGT1):c.644-12T>G
|
|
|
NM_001382.4(DPAGT1):c.644-18_644-15del
|
rs750678639
|
|
NM_001382.4(DPAGT1):c.644-1G>T
|
rs2134903748
|
|
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=)
|
rs2134903738
|
|
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu)
|
rs1386440899
|
|
NM_001382.4(DPAGT1):c.663T>C (p.His221=)
|
rs755080683
|
|
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
|
|
|
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=)
|
rs1592226752
|
|
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
|
|
|
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
|
|
|
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
|
|
|
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)
|
rs1221039307
|
|
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)
|
rs2134919748
|
|
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)
|
rs2134903441
|
|
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
|
|
|
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)
|
rs765676413
|
|
NM_001382.4(DPAGT1):c.729-16C>G
|
|
|
NM_001382.4(DPAGT1):c.729-16C>T
|
|
|
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
|
|
|
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
|
|
|
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)
|
rs1946429703
|
|
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
|
|
|
NM_001382.4(DPAGT1):c.750G>A (p.Val250=)
|
rs2134901634
|
|
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)
|
rs2134901573
|
|
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
|
|
|
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)
|
rs780944148
|
|
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
|
|
|
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
|
|
|
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
|
|
|
NM_001382.4(DPAGT1):c.810C>T (p.His270=)
|
rs1946427343
|
|
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)
|
rs145055477
|
|
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=)
|
rs756625547
|
|
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
|
|
|
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)
|
rs1946426502
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=)
|
rs1592226120
|
|
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
|
|
|
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)
|
rs1393162163
|
|
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)
|
rs771322037
|
|
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
|
|
|
NM_001382.4(DPAGT1):c.917+7G>A
|
|
|
NM_001382.4(DPAGT1):c.918-10C>A
|
rs764154648
|
|
NM_001382.4(DPAGT1):c.918-15A>G
|
|
|
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)
|
rs2134899492
|
|
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)
|
rs1946419999
|
|
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)
|
rs755527720
|
|
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)
|
rs1946418951
|
|
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
|
|
|
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
|
|
|
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
|
|
|
NM_002334.4(LRP4):c.1029A>G (p.Glu343=)
|
rs761739869
|
|
NM_002334.4(LRP4):c.1048+13A>G
|
|
|
NM_002334.4(LRP4):c.1049-10G>C
|
rs2134853583
|
|
NM_002334.4(LRP4):c.1049-20C>T
|
|
|
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
|
|
|
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
|
|
|
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
|
|
|
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
|
|
|
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val)
|
rs1941521066
|
|
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
|
|
|
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr)
|
rs1164240481
|
|
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
|
|
|
NM_002334.4(LRP4):c.1123_1126dup (p.Val376fs)
|
|
|
NM_002334.4(LRP4):c.1126G>A (p.Val376Met)
|
rs1243051904
|
|
NM_002334.4(LRP4):c.1146A>G (p.Thr382=)
|
rs2134853133
|
|
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
|
|
|
NM_002334.4(LRP4):c.1184-18C>T
|
|
|
NM_002334.4(LRP4):c.1184-2A>G
|
|
|
NM_002334.4(LRP4):c.1184-5C>T
|
|
|
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu)
|
rs2134851507
|
|
NM_002334.4(LRP4):c.1218C>T (p.Ser406=)
|
rs2134851406
|
|
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
|
|
|
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
|
|
|
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
|
|
|
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
|
|
|
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln)
|
rs569764064
|
|
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
|
|
|
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
|
|
|
NM_002334.4(LRP4):c.1306C>T (p.Leu436=)
|
rs368827270
|
|
NM_002334.4(LRP4):c.1309+5G>C
|
|
|
NM_002334.4(LRP4):c.1310-3C>T
|
rs1941491191
|
|
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
|
|
|
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
|
|
|
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr)
|
rs1023257694
|
|
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
|
|
|
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
|
|
|
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)
|
rs1555174047
|
|
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
|
|
|
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
|
|
|
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
|
|
|
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
|
|
|
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser)
|
rs746759136
|
|
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys)
|
rs779961860
|
|
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
|
|
|
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
|
|
|
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
|
|
|
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile)
|
rs769948678
|
|
NM_002334.4(LRP4):c.1540+13G>A
|
|
|
NM_002334.4(LRP4):c.1540+17C>A
|
|
|
NM_002334.4(LRP4):c.1540+18A>G
|
|
|
NM_002334.4(LRP4):c.1540+3A>G
|
rs2134849214
|
|
NM_002334.4(LRP4):c.1540+9C>T
|
|
|
NM_002334.4(LRP4):c.1541-16T>C
|
|
|
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
|
|
|
NM_002334.4(LRP4):c.1546C>T (p.Leu516=)
|
rs1592539185
|
|
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
|
|
|
NM_002334.4(LRP4):c.1584C>A (p.Thr528=)
|
rs574108233
|
|
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
|
|
|
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
|
|
|
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
|
|
|
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
|
|
|
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
|
|
|
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
|
|
|
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val)
|
rs751911145
|
|
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
|
|
|
NM_002334.4(LRP4):c.1697+19T>C
|
|
|
NM_002334.4(LRP4):c.1698-9_1698-5del
|
rs1941399170
|
|
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
|
|
|
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu)
|
rs1941398250
|
|
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
|
|
|
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
|
|
|
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
|
|
|
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
|
|
|
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
|
|
|
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
|
|
|
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
|
|
|
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
|
|
|
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
|
|
|
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
|
|
|
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
|
|
|
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
|
|
|
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
|
|
|
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
|
|
|
NM_002334.4(LRP4):c.1915+8C>A
|
|
|
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
|
|
|
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
|
|
|
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
|
|
|
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
|
|
|
NM_002334.4(LRP4):c.199+12C>T
|
|
|
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp)
|
rs1190494235
|
|
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
NM_002334.4(LRP4):c.200-26TTTTC[4]
|
|
|
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
|
|
|
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
|
|
|
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
|
|
|
NM_002334.4(LRP4):c.2028C>T (p.Ile676=)
|
rs1941385384
|
|
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
|
|
|
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
|
|
|
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe)
|
rs2134837991
|
|
NM_002334.4(LRP4):c.2073C>T (p.His691=)
|
|
|
NM_002334.4(LRP4):c.2081G>A (p.Arg694His)
|
rs1406466481
|
|
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
|
|
|
NM_002334.4(LRP4):c.2092+12C>T
|
|
|
NM_002334.4(LRP4):c.2092+18G>A
|
|
|
NM_002334.4(LRP4):c.2092+20G>C
|
|
|
NM_002334.4(LRP4):c.2092+5A>G
|
|
|
NM_002334.4(LRP4):c.2093-15dup
|
rs375880498
|
|
NM_002334.4(LRP4):c.2093-19C>T
|
rs1181290875
|
|
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
|
|
|
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del)
|
rs1565792675
|
|
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)
|
rs1382055371
|
|
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)
|
rs199674492
|
|
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
|
|
|
NM_002334.4(LRP4):c.2175C>T (p.Pro725=)
|
rs369705661
|
|
NM_002334.4(LRP4):c.2178T>G (p.Thr726=)
|
rs1941371842
|
|
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
|
|
|
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
|
|
|
NM_002334.4(LRP4):c.2215+5G>A
|
rs1941370233
|
|
NM_002334.4(LRP4):c.2216-18C>T
|
|
|
NM_002334.4(LRP4):c.2216-20C>A
|
|
|
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
|
|
|
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
|
|
|
NM_002334.4(LRP4):c.225C>T (p.Asp75=)
|
rs1023732809
|
|
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter)
|
rs1565790767
|
|
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
|
|
|
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
|
|
|
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
|
|
|
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
|
|
|
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
|
|
|
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
|
|
|
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
|
|
|
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
|
|
|
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
|
|
|
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile)
|
rs2134828263
|
|
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)
|
rs753109967
|
|
NM_002334.4(LRP4):c.2425-19A>G
|
rs2134827879
|
|
NM_002334.4(LRP4):c.2425-6G>T
|
rs1592532832
|
|
NM_002334.4(LRP4):c.2442T>C (p.Ser814=)
|
rs2134827694
|
|
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=)
|
rs2134827587
|
|
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
|
|
|
NM_002334.4(LRP4):c.2506+8T>C
|
|
|
NM_002334.4(LRP4):c.2507-1G>A
|
|
|
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser)
|
rs2134821602
|
|
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
|
|
|
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
|
|
|
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala)
|
rs2134821502
|
|
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
|
|
|
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
|
|
|
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
|
|
|
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile)
|
rs1370824030
|
|
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
|
|
|
NM_002334.4(LRP4):c.2612+12C>T
|
|
|
NM_002334.4(LRP4):c.2612+15C>T
|
rs926960884
|
|
NM_002334.4(LRP4):c.2613-11C>A
|
|
|
NM_002334.4(LRP4):c.2613-11_2613-7dup
|
|
|
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
|
|
|
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)
|
rs1592529316
|
|
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe)
|
rs756941634
|
|
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
|
|
|
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr)
|
rs1486508644
|
|
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
|
|
|
NM_002334.4(LRP4):c.2770A>G (p.Met924Val)
|
rs1247727700
|
|
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
|
|
|
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
|
|
|
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
|
|
|
NM_002334.4(LRP4):c.2814+10del
|
rs534937304
|
|
NM_002334.4(LRP4):c.2814+13_2814+35del
|
|
|
NM_002334.4(LRP4):c.2814+17_2814+39del
|
|
|
NM_002334.4(LRP4):c.2814+9G>A
|
|
|
NM_002334.4(LRP4):c.2815-11G>T
|
|
|
NM_002334.4(LRP4):c.2815-16G>A
|
rs1941096408
|
|
NM_002334.4(LRP4):c.2815-20_2815-17dup
|
|
|
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter)
|
rs1218582533
|
|
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
|
|
|
NM_002334.4(LRP4):c.2835C>G (p.Leu945=)
|
rs201362411
|
|
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)
|
rs1565785959
|
|
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
|
|
|
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
|
|
|
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
|
|
|
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
|
|
|
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
|
|
|
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
|
|
|
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)
|
rs541593593
|
|
NM_002334.4(LRP4):c.2979T>C (p.His993=)
|
|
|
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
|
|
|
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
|
|
|
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
|
|
|
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
|
|
|
NM_002334.4(LRP4):c.3004+13T>C
|
|
|
NM_002334.4(LRP4):c.3004+14G>C
|
|
|
NM_002334.4(LRP4):c.3004+18C>A
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
NM_002334.4(LRP4):c.3004+19G>A
|
|
|
NM_002334.4(LRP4):c.3005-12C>T
|
|
|
NM_002334.4(LRP4):c.3005-4C>T
|
|
|
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
|
|
|
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp)
|
rs2134807106
|
|
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)
|
rs886048352
|
|
NM_002334.4(LRP4):c.3045C>T (p.His1015=)
|
rs2134807034
|
|
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg)
|
rs2134807022
|
|
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
|
|
|
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
|
|
|
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
|
|
|
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
|
|
|
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn)
|
rs2134865411
|
|
NM_002334.4(LRP4):c.3136+16A>G
|
|
|
NM_002334.4(LRP4):c.3137-13C>T
|
|
|
NM_002334.4(LRP4):c.3137-15del
|
rs2134802550
|
|
NM_002334.4(LRP4):c.3137-4G>A
|
|
|
NM_002334.4(LRP4):c.3137-4G>C
|
|
|
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile)
|
rs2134802507
|
|
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=)
|
rs2134802462
|
|
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
|
|
|
NM_002334.4(LRP4):c.317-12C>G
|
|
|
NM_002334.4(LRP4):c.317-19G>A
|
|
|
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
|
|
|
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu)
|
rs2134864767
|
|
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
|
|
|
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
|
|
|
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
|
|
|
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)
|
rs1555172311
|
|
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
|
|
|
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
|
|
|
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
|
|
|
NM_002334.4(LRP4):c.3277+5G>A
|
rs374900441
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
|
|
|
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
|
|
|
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
|
|
|
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
|
|
|
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
|
|
|
NM_002334.4(LRP4):c.3364+11C>T
|
|
|
NM_002334.4(LRP4):c.3364+17G>T
|
|
|
NM_002334.4(LRP4):c.3364+3G>A
|
|
|
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
|
|
|
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=)
|
rs2134800312
|
|
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
|
|
|
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
|
|
|
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp)
|
rs777439267
|
|
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser)
|
rs1941024656
|
|
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
|
|
|
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
|
|
|
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
|
|
|
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg)
|
rs2134799809
|
|
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
|
|
|
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA
|
rs2134799662
|
|
NM_002334.4(LRP4):c.3536+16A>T
|
|
|
NM_002334.4(LRP4):c.3536+18C>T
|
|
|
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile)
|
rs2134798449
|
|
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
|
|
|
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)
|
rs387906883
|
|
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
|
|
|
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
|
|
|
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
|
|
|
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
|
|
|
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
|
|
|
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
|
|
|
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser)
|
rs1941000568
|
|
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
|
|
|
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
|
|
|
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
|
|
|
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
|
|
|
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys)
|
rs786205153
|
|
NM_002334.4(LRP4):c.3699+13T>C
|
|
|
NM_002334.4(LRP4):c.3699+19C>T
|
|
|
NM_002334.4(LRP4):c.3699+1G>A
|
|
|
NM_002334.4(LRP4):c.3699+8C>T
|
|
|
NM_002334.4(LRP4):c.3699+9C>A
|
|
|
NM_002334.4(LRP4):c.3699+9C>T
|
|
|
NM_002334.4(LRP4):c.3700-10T>C
|
rs975882066
|
|
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
|
|
|
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=)
|
rs2134797059
|
|
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
|
|
|
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
|
|
|
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
|
|
|
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
|
|
|
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
|
|
|
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
|
|
|
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
|
|
|
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn)
|
rs2134796086
|
|
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala)
|
rs777142871
|
|
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
|
|
|
NM_002334.4(LRP4):c.3925+3G>A
|
rs1217353454
|
|
NM_002334.4(LRP4):c.3926-17G>A
|
|
|
NM_002334.4(LRP4):c.3926-5A>G
|
|
|
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser)
|
rs756790038
|
|
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
|
|
|
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=)
|
rs2134794190
|
|
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)
|
rs2134794079
|
|
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
|
|
|
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro)
|
rs1565782170
|
|
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=)
|
rs371098163
|
|
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
|
|
|
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)
|
rs765240067
|
|
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
|
|
|
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly)
|
rs202151304
|
|
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=)
|
rs1181126034
|
|
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys)
|
rs2134793655
|
|
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
|
|
|
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
|
|
|
NM_002334.4(LRP4):c.4229+11C>T
|
|
|
NM_002334.4(LRP4):c.4229+15G>A
|
|
|
NM_002334.4(LRP4):c.4229+20C>G
|
|
|
NM_002334.4(LRP4):c.4229+4T>C
|
rs1836121973
|
|
NM_002334.4(LRP4):c.4230-10T>C
|
rs1940930151
|
|
NM_002334.4(LRP4):c.4230-12G>A
|
|
|
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr)
|
rs2134789997
|
|
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu)
|
rs2134789849
|
|
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=)
|
rs1940926502
|
|
NM_002334.4(LRP4):c.430+4G>A
|
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
NM_002334.4(LRP4):c.431-9T>A
|
rs1941620373
|
|
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
|
|
|
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
|
|
|
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
|
|
|
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)
|
rs886048349
|
|
NM_002334.4(LRP4):c.4400dup (p.Asn1467fs)
|
|
|
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
|
|
|
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly)
|
rs1314468807
|
|
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn)
|
rs1451422777
|
|
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
|
|
|
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
|
|
|
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
|
|
|
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
|
|
|
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
|
|
|
NM_002334.4(LRP4):c.4584-14_4584-10del
|
rs748959880
|
|
NM_002334.4(LRP4):c.4584-16_4584-15del
|
rs768340393
|
|
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
|
|
|
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
|
|
|
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)
|
rs886048348
|
|
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
|
|
|
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
|
|
|
NM_002334.4(LRP4):c.4693-11C>T
|
rs1409382852
|
|
NM_002334.4(LRP4):c.4693-12C>G
|
|
|
NM_002334.4(LRP4):c.4693-12C>T
|
|
|
NM_002334.4(LRP4):c.4693-16T>C
|
rs2134778241
|
|
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly)
|
rs2134778108
|
|
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser)
|
rs2134778058
|
|
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=)
|
rs200270681
|
|
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
|
|
|
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
|
|
|
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys)
|
rs1346806071
|
|
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile)
|
rs2134777729
|
|
NM_002334.4(LRP4):c.4837+8C>G
|
rs1243774066
|
|
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg)
|
rs1940786470
|
|
NM_002334.4(LRP4):c.4838-8G>A
|
|
|
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=)
|
rs2134776744
|
|
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr)
|
rs1592515719
|
|
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)
|
rs550931351
|
|
NM_002334.4(LRP4):c.489G>A (p.Glu163=)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp)
|
rs1941618309
|
|
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg)
|
rs2134776522
|
|
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg)
|
rs767372563
|
|
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
|
|
|
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu)
|
rs3816614
|
|
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
|
|
|
NM_002334.4(LRP4):c.4952-10T>C
|
|
|
NM_002334.4(LRP4):c.4952-17T>C
|
|
|
NM_002334.4(LRP4):c.4952-19A>G
|
rs772798728
|
|
NM_002334.4(LRP4):c.4952-20C>A
|
|
|
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser)
|
rs1384073340
|
|
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)
|
rs1455143794
|
|
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr)
|
rs747440221
|
|
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn)
|
rs2134774974
|
|
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)
|
rs2134774940
|
|
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
|
|
|
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His)
|
rs751407728
|
|
NM_002334.4(LRP4):c.507T>A (p.Gly169=)
|
rs2134863376
|
|
NM_002334.4(LRP4):c.5087+12C>T
|
|
|
NM_002334.4(LRP4):c.5087+13A>G
|
|
|
NM_002334.4(LRP4):c.5087+14A>T
|
rs376251083
|
|
NM_002334.4(LRP4):c.5088-6C>T
|
|
|
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
|
|
|
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
|
|
|
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
|
|
|
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)
|
rs560103351
|
|
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
|
|
|
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
|
|
|
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile)
|
rs1002830453
|
|
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn)
|
rs780819863
|
|
NM_002334.4(LRP4):c.5155+16C>T
|
|
|
NM_002334.4(LRP4):c.5155+20C>G
|
|
|
NM_002334.4(LRP4):c.5156-11A>G
|
|
|
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu)
|
rs2134765636
|
|
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
|
|
|
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)
|
rs1447336134
|
|
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn)
|
rs2134765445
|
|
NM_002334.4(LRP4):c.52+6C>A
|
|
|
NM_002334.4(LRP4):c.5243+6T>C
|
rs376294734
|
|
NM_002334.4(LRP4):c.5244-6C>T
|
|
|
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn)
|
rs1592509652
|
|
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
|
|
|
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
|
|
|
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
|
|
|
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=)
|
rs2134760244
|
|
NM_002334.4(LRP4):c.53-12C>G
|
|
|
NM_002334.4(LRP4):c.53-15T>C
|
|
|
NM_002334.4(LRP4):c.53-6G>A
|
|
|
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
|
|
|
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
|
|
|
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=)
|
rs750830696
|
|
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
|
|
|
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
|
|
|
NM_002334.4(LRP4):c.5386-12T>C
|
|
|
NM_002334.4(LRP4):c.5386-4C>G
|
|
|
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
|
|
|
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
|
|
|
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del)
|
rs769465803
|
|
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)
|
rs373162825
|
|
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser)
|
rs760515633
|
|
NM_002334.4(LRP4):c.547+14G>A
|
|
|
NM_002334.4(LRP4):c.547+14G>C
|
rs1243797516
|
|
NM_002334.4(LRP4):c.547+1G>A
|
rs762425885
|
|
NM_002334.4(LRP4):c.548-18C>G
|
rs779705585
|
|
NM_002334.4(LRP4):c.548-19A>T
|
|
|
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)
|
rs911721294
|
|
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
|
|
|
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)
|
rs2134750971
|
|
NM_002334.4(LRP4):c.54C>T (p.Gly18=)
|
rs372935440
|
|
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)
|
rs142462686
|
|
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
|
|
|
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
|
|
|
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val)
|
rs2134750890
|
|
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
|
|
|
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
|
|
|
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
|
|
|
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
|
|
|
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
|
|
|
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
|
|
|
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
|
|
|
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
|
|
|
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
|
|
|
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
|
|
|
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
|
|
|
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
|
|
|
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
|
|
|
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
|
|
|
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
|
|
|
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
|
|
|
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
|
|
|
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile)
|
rs1940461595
|
|
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
|
|
|
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
|
|
|
NM_002334.4(LRP4):c.5715C>G (p.Val1905=)
|
rs2134750322
|
|
NM_002334.4(LRP4):c.591G>A (p.Gln197=)
|
rs1199299804
|
|
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
|
|
|
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr)
|
rs2134862174
|
|
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
|
|
|
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
|
|
|
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
|
|
|
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
|
|
|
NM_002334.4(LRP4):c.677-13T>C
|
|
|
NM_002334.4(LRP4):c.677-6C>T
|
|
|
NM_002334.4(LRP4):c.677-7T>G
|
rs1244833731
|
|
NM_002334.4(LRP4):c.682C>T (p.His228Tyr)
|
rs2134861515
|
|
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
|
|
|
NM_002334.4(LRP4):c.69C>T (p.Pro23=)
|
rs370359994
|
|
NM_002334.4(LRP4):c.708C>T (p.Phe236=)
|
rs2134861393
|
|
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr)
|
rs770285774
|
|
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
|
|
|
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
|
|
|
NM_002334.4(LRP4):c.774C>T (p.Asp258=)
|
rs2134861192
|
|
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
|
|
|
NM_002334.4(LRP4):c.796+18A>T
|
|
|
NM_002334.4(LRP4):c.796+20T>C
|
|
|
NM_002334.4(LRP4):c.796+7G>A
|
|
|
NM_002334.4(LRP4):c.797-3C>T
|
rs1941546855
|
|
NM_002334.4(LRP4):c.798C>T (p.Thr266=)
|
rs2134856058
|
|
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
|
|
|
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
|
|
|
NM_002334.4(LRP4):c.827G>A (p.Arg276His)
|
rs1592543038
|
|
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp)
|
rs1183268699
|
|
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
|
|
|
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
|
|
|
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
|
|
|
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
|
|
|
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
|
|
|
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
|
|
|
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly)
|
rs1941543958
|
|
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
|
|
|
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
|
|
|
NM_002334.4(LRP4):c.922+13G>C
|
|
|
NM_002334.4(LRP4):c.923-11C>T
|
|
|
NM_002334.4(LRP4):c.923-14del
|
|
|
NM_002334.4(LRP4):c.923-8C>T
|
|
|
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
|
|
|
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
|
|
|
NM_002334.4(LRP4):c.952C>G (p.Leu318Val)
|
rs2134854486
|
|
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser)
|
rs2134854401
|
|
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
|
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys)
|
rs549232026
|
|
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
|
|
|
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
|
|
|
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs)
|
rs765096923
|
|
NM_005055.5(RAPSN):c.102G>A (p.Glu34=)
|
rs2076432091
|
|
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
|
|
|
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)
|
rs778622975
|
|
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly)
|
rs1252992478
|
|
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
|
|
|
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
|
|
|
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
|
|
|
NM_005055.5(RAPSN):c.1059C>T (p.His353=)
|
rs544722226
|
|
NM_005055.5(RAPSN):c.105G>A (p.Lys35=)
|
rs2153311746
|
|
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
|
|
|
NM_005055.5(RAPSN):c.1065C>A (p.Cys355Ter)
|
rs763094966
|
|
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln)
|
rs1595896567
|
|
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
|
|
|
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
|
|
|
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
|
|
|
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=)
|
rs565321918
|
|
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)
|
rs763018407
|
|
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
|
|
|
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=)
|
rs778228002
|
|
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
|
|
|
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
|
|
|
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)
|
rs2153306751
|
|
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del)
|
rs759488854
|
|
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln)
|
rs1241928450
|
|
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
|
|
|
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)
|
rs1194287140
|
|
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)
|
rs2076335581
|
|
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
|
|
|
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
|
|
|
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
|
|
|
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys)
|
rs1197895855
|
|
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)
|
rs765481657
|
|
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
|
|
|
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
|
|
|
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
|
|
|
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
|
|
|
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
|
|
|
NM_005055.5(RAPSN):c.1166+10C>G
|
|
|
NM_005055.5(RAPSN):c.1166+10C>T
|
|
|
NM_005055.5(RAPSN):c.1166+13G>A
|
|
|
NM_005055.5(RAPSN):c.1166+13G>T
|
|
|
NM_005055.5(RAPSN):c.1166+14G>A
|
|
|
NM_005055.5(RAPSN):c.1166+14G>C
|
|
|
NM_005055.5(RAPSN):c.1166+15G>A
|
rs556595562
|
|
NM_005055.5(RAPSN):c.1166+15G>C
|
rs556595562
|
|
NM_005055.5(RAPSN):c.1166+15G>T
|
|
|
NM_005055.5(RAPSN):c.1166+16G>T
|
|
|
NM_005055.5(RAPSN):c.1166+17G>A
|
|
|
NM_005055.5(RAPSN):c.1166+18G>C
|
|
|
NM_005055.5(RAPSN):c.1166+19G>A
|
|
|
NM_005055.5(RAPSN):c.1166+19del
|
rs760797252
|
|
NM_005055.5(RAPSN):c.1166+19dup
|
|
|
NM_005055.5(RAPSN):c.1166+1G>C
|
|
|
NM_005055.5(RAPSN):c.1166+1G>T
|
|
|
NM_005055.5(RAPSN):c.1166+2T>G
|
|
|
NM_005055.5(RAPSN):c.1166+7G>A
|
|
|
NM_005055.5(RAPSN):c.1166+7G>T
|
rs1395269562
|
|
NM_005055.5(RAPSN):c.1167-12T>C
|
|
|
NM_005055.5(RAPSN):c.1167-20A>G
|
|
|
NM_005055.5(RAPSN):c.1167-8C>T
|
|
|
NM_005055.5(RAPSN):c.1167-9C>T
|
|
|
NM_005055.5(RAPSN):c.1168del (p.Cys390fs)
|
|
|
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)
|
rs2153306281
|
|
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
|
|
|
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs)
|
rs1555142142
|
|
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg)
|
rs768882267
|
|
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
|
|
|
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
|
|
|
NM_005055.5(RAPSN):c.1185del (p.Thr396fs)
|
rs2153306243
|
|
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
|
|
|
NM_005055.5(RAPSN):c.11dup (p.Asp4fs)
|
rs1565689206
|
|
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
|
|
|
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
|
|
|
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
|
|
|
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
|
|
|
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
|
|
|
NM_005055.5(RAPSN):c.133G>T (p.Val45Leu)
|
|
|
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
|
|
|
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
|
|
|
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr)
|
rs2076431469
|
|
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
|
|
|
NM_005055.5(RAPSN):c.173G>A (p.Arg58His)
|
rs373437117
|
|
NM_005055.5(RAPSN):c.174C>A (p.Arg58=)
|
rs2153311690
|
|
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His)
|
rs1555143594
|
|
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys)
|
rs2153311689
|
|
NM_005055.5(RAPSN):c.177C>A (p.Tyr59Ter)
|
|
|
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
|
|
|
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
|
|
|
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
|
|
|
NM_005055.5(RAPSN):c.192+10C>A
|
rs1202888760
|
|
NM_005055.5(RAPSN):c.192+10C>T
|
rs1202888760
|
|
NM_005055.5(RAPSN):c.192+11C>T
|
|
|
NM_005055.5(RAPSN):c.192+12del
|
|
|
NM_005055.5(RAPSN):c.192+13G>A
|
|
|
NM_005055.5(RAPSN):c.192+17T>C
|
|
|
NM_005055.5(RAPSN):c.192+2T>G
|
|
|
NM_005055.5(RAPSN):c.192+5G>T
|
|
|
NM_005055.5(RAPSN):c.192+7G>A
|
|
|
NM_005055.5(RAPSN):c.192+8T>C
|
rs759724477
|
|
NM_005055.5(RAPSN):c.192+9dup
|
rs2153311675
|
|
NM_005055.5(RAPSN):c.193-10C>T
|
rs2153311437
|
|
NM_005055.5(RAPSN):c.193-11G>A
|
|
|
NM_005055.5(RAPSN):c.193-12C>T
|
|
|
NM_005055.5(RAPSN):c.193-15C>A
|
rs45547231
|
|
NM_005055.5(RAPSN):c.193-16C>A
|
|
|
NM_005055.5(RAPSN):c.193-16C>T
|
|
|
NM_005055.5(RAPSN):c.193-17A>C
|
|
|
NM_005055.5(RAPSN):c.193-18C>T
|
|
|
NM_005055.5(RAPSN):c.193-4G>A
|
|
|
NM_005055.5(RAPSN):c.193-5_201del
|
|
|
NM_005055.5(RAPSN):c.193-8G>T
|
|
|
NM_005055.5(RAPSN):c.198T>G (p.Ala66=)
|
rs1131389
|
|
NM_005055.5(RAPSN):c.1A>G (p.Met1Val)
|
|
|
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu)
|
rs1565688293
|
|
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
|
|
|
NM_005055.5(RAPSN):c.210del (p.Ile70fs)
|
rs760999895
|
|
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn)
|
rs150051760
|
|
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
|
|
|
NM_005055.5(RAPSN):c.228G>A (p.Leu76=)
|
rs2153311384
|
|
NM_005055.5(RAPSN):c.22C>T (p.Gln8Ter)
|
|
|
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn)
|
rs1198989939
|
|
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val)
|
rs1007398586
|
|
NM_005055.5(RAPSN):c.246C>G (p.Leu82=)
|
rs780420252
|
|
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln)
|
rs2076424527
|
|
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
|
|
|
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
|
|
|
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
|
|
|
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
|
|
|
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
|
|
|
NM_005055.5(RAPSN):c.272G>A (p.Arg91His)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.272G>C (p.Arg91Pro)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu)
|
rs375218091
|
|
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
|
|
|
NM_005055.5(RAPSN):c.279C>T (p.Asn93=)
|
rs901210204
|
|
NM_005055.5(RAPSN):c.27G>A (p.Gln9=)
|
rs1452323802
|
|
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
|
|
|
NM_005055.5(RAPSN):c.280del (p.Glu94fs)
|
|
|
NM_005055.5(RAPSN):c.282G>A (p.Glu94=)
|
rs2153311324
|
|
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
|
|
|
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
|
|
|
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
|
|
|
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr)
|
rs2153311318
|
|
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter)
|
rs749287203
|
|
NM_005055.5(RAPSN):c.294G>A (p.Glu98=)
|
rs1331228474
|
|
NM_005055.5(RAPSN):c.297del (p.His100fs)
|
rs2153311310
|
|
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
|
|
|
NM_005055.5(RAPSN):c.300_319del (p.His100fs)
|
rs2153311290
|
|
NM_005055.5(RAPSN):c.30C>A (p.Ile10=)
|
rs768838402
|
|
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg)
|
rs777801296
|
|
NM_005055.5(RAPSN):c.318C>A (p.Cys106Ter)
|
rs2076423585
|
|
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)
|
rs2076423375
|
|
NM_005055.5(RAPSN):c.327C>T (p.Cys109=)
|
rs769245608
|
|
NM_005055.5(RAPSN):c.333G>T (p.Gly111=)
|
rs2153311277
|
|
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
|
|
|
NM_005055.5(RAPSN):c.336G>T (p.Leu112=)
|
rs747080013
|
|
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
|
|
|
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
|
|
|
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
|
|
|
NM_005055.5(RAPSN):c.357C>T (p.Ala119=)
|
rs1595902752
|
|
NM_005055.5(RAPSN):c.358C>T (p.Gln120Ter)
|
rs2076422949
|
|
NM_005055.5(RAPSN):c.358del (p.Gln120fs)
|
|
|
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
|
|
|
NM_005055.5(RAPSN):c.363C>G (p.Leu121=)
|
rs190548363
|
|
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
|
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
|
|
|
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
|
|
|
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro)
|
rs2153311254
|
|
NM_005055.5(RAPSN):c.39G>T (p.Gly13=)
|
rs770689515
|
|
NM_005055.5(RAPSN):c.3G>T (p.Met1Ile)
|
|
|
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
|
|
|
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
|
|
|
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter)
|
rs2153311231
|
|
NM_005055.5(RAPSN):c.423G>A (p.Lys141=)
|
rs2153311227
|
|
NM_005055.5(RAPSN):c.424_425insTGTCTCCTCTATATAAATGCGTAGGGGTTTTAGTTAAATGTCCTTTGAAGTATACTTGAGGAGGGTGACGGGCGGTGTGTACGCGCTTCAGGGCCCTGTTCAACTAAGCACTCTACCCTGTTCAACTAAG (p.Ala142delinsValSerProLeuTyrLysCysValGlyValLeuValLysCysProLeuLysTyrThrTer)
|
|
|
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
|
|
|
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)
|
rs1198813718
|
|
NM_005055.5(RAPSN):c.447C>T (p.Ala149=)
|
rs2153311191
|
|
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
|
|
|
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)
|
rs1595902592
|
|
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
|
|
|
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)
|
rs142635726
|
|
NM_005055.5(RAPSN):c.459C>T (p.Ala153=)
|
rs780030892
|
|
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del)
|
rs1595902555
|
|
NM_005055.5(RAPSN):c.46dup (p.Leu16fs)
|
rs2153311780
|
|
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
|
|
|
NM_005055.5(RAPSN):c.489C>T (p.Cys163=)
|
rs1202436612
|
|
NM_005055.5(RAPSN):c.48G>A (p.Leu16=)
|
rs2076432806
|
|
NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)
|
rs104894294
|
|
NM_005055.5(RAPSN):c.492C>A (p.Arg164=)
|
rs146237774
|
|
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
|
|
|
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
|
|
|
NM_005055.5(RAPSN):c.504C>T (p.Ser168=)
|
rs2153311137
|
|
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
|
|
|
NM_005055.5(RAPSN):c.510C>G (p.Gly170=)
|
rs1335659789
|
|
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
|
|
|
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
|
|
|
NM_005055.5(RAPSN):c.531+15C>G
|
|
|
NM_005055.5(RAPSN):c.531+17G>A
|
|
|
NM_005055.5(RAPSN):c.531+17G>C
|
|
|
NM_005055.5(RAPSN):c.531+18G>A
|
|
|
NM_005055.5(RAPSN):c.531+19G>C
|
|
|
NM_005055.5(RAPSN):c.531+1G>A
|
|
|
NM_005055.5(RAPSN):c.531+20G>A
|
|
|
NM_005055.5(RAPSN):c.531+7C>G
|
|
|
NM_005055.5(RAPSN):c.531+8T>G
|
rs2153311112
|
|
NM_005055.5(RAPSN):c.532-17T>C
|
|
|
NM_005055.5(RAPSN):c.532-19C>T
|
|
|
NM_005055.5(RAPSN):c.532-4G>A
|
rs553983766
|
|
NM_005055.5(RAPSN):c.532-5T>C
|
rs1296891027
|
|
NM_005055.5(RAPSN):c.532-8C>T
|
|
|
NM_005055.5(RAPSN):c.537C>A (p.Tyr179Ter)
|
rs1015604630
|
|
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=)
|
rs1015604630
|
|
NM_005055.5(RAPSN):c.546_547dup (p.Leu183fs)
|
rs2153309143
|
|
NM_005055.5(RAPSN):c.549G>C (p.Leu183=)
|
rs1595899529
|
|
NM_005055.5(RAPSN):c.549_553dup (p.Phe185fs)
|
rs786200904
|
|
NM_005055.5(RAPSN):c.54G>A (p.Gln18=)
|
rs2153311774
|
|
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
|
|
|
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg)
|
rs1219888816
|
|
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly)
|
rs121909257
|
|
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser)
|
rs779881502
|
|
NM_005055.5(RAPSN):c.570A>G (p.Ala190=)
|
rs1437018541
|
|
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
|
|
|
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
|
|
|
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)
|
rs2076375665
|
|
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
|
|
|
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)
|
rs1595899478
|
|
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
|
|
|
NM_005055.5(RAPSN):c.609G>A (p.Lys203=)
|
rs2153309106
|
|
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
|
|
|
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile)
|
rs752415268
|
|
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
|
|
|
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
|
|
|
NM_005055.5(RAPSN):c.652_655dup (p.Leu219fs)
|
|
|
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
|
|
|
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp)
|
rs2153309064
|
|
NM_005055.5(RAPSN):c.669C>T (p.Gly223=)
|
rs1168766907
|
|
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
|
|
|
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
|
|
|
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup)
|
rs1555142799
|
|
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
|
|
|
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val)
|
rs1565684828
|
|
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
|
|
|
NM_005055.5(RAPSN):c.679G>T (p.Glu227Ter)
|
rs2153309050
|
|
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
|
|
|
NM_005055.5(RAPSN):c.690+10C>G
|
rs78293924
|
|
NM_005055.5(RAPSN):c.690+11G>A
|
|
|
NM_005055.5(RAPSN):c.690+14G>A
|
|
|
NM_005055.5(RAPSN):c.690+18G>A
|
|
|
NM_005055.5(RAPSN):c.691-10del
|
|
|
NM_005055.5(RAPSN):c.691-11C>T
|
|
|
NM_005055.5(RAPSN):c.691-11del
|
rs34729771
|
|
NM_005055.5(RAPSN):c.691-16C>G
|
|
|
NM_005055.5(RAPSN):c.691-1G>A
|
|
|
NM_005055.5(RAPSN):c.691-20G>A
|
|
|
NM_005055.5(RAPSN):c.691-2_732dup
|
rs2076367688
|
|
NM_005055.5(RAPSN):c.691-4G>A
|
|
|
NM_005055.5(RAPSN):c.691-4G>T
|
rs886048388
|
|
NM_005055.5(RAPSN):c.691-7C>A
|
rs2153308712
|
|
NM_005055.5(RAPSN):c.691-7del
|
|
|
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
|
|
|
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter)
|
rs2076368388
|
|
NM_005055.5(RAPSN):c.714G>A (p.Gln238=)
|
rs2153308678
|
|
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
|
|
|
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
|
|
|
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro)
|
rs2076367706
|
|
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
|
|
|
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
|
|
|
NM_005055.5(RAPSN):c.738G>T (p.Ala246=)
|
rs889862832
|
|
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro)
|
rs1217675127
|
|
NM_005055.5(RAPSN):c.744C>T (p.Cys248=)
|
rs780224551
|
|
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
|
|
|
NM_005055.5(RAPSN):c.747G>C (p.Leu249=)
|
rs1398686820
|
|
NM_005055.5(RAPSN):c.750C>T (p.Leu250=)
|
rs2153308626
|
|
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr)
|
rs2153308622
|
|
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
|
|
|
NM_005055.5(RAPSN):c.765C>A (p.Ile255=)
|
rs1432435738
|
|
NM_005055.5(RAPSN):c.768C>T (p.His256=)
|
rs757302008
|
|
NM_005055.5(RAPSN):c.76T>C (p.Leu26=)
|
rs202091676
|
|
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
|
|
|
NM_005055.5(RAPSN):c.774C>T (p.Ser258=)
|
rs2153308610
|
|
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly)
|
rs150207592
|
|
NM_005055.5(RAPSN):c.783C>T (p.Asp261=)
|
rs2076367030
|
|
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
|
|
|
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
|
|
|
NM_005055.5(RAPSN):c.789+11C>G
|
|
|
NM_005055.5(RAPSN):c.789+11C>T
|
|
|
NM_005055.5(RAPSN):c.789+12G>A
|
|
|
NM_005055.5(RAPSN):c.789+17G>T
|
|
|
NM_005055.5(RAPSN):c.789+8C>G
|
|
|
NM_005055.5(RAPSN):c.789_789+15dup
|
rs780882080
|
|
NM_005055.5(RAPSN):c.78G>A (p.Leu26=)
|
rs750811979
|
|
NM_005055.5(RAPSN):c.790-12C>G
|
|
|
NM_005055.5(RAPSN):c.790-13C>T
|
|
|
NM_005055.5(RAPSN):c.790-15C>A
|
|
|
NM_005055.5(RAPSN):c.790-15C>G
|
rs752816353
|
|
NM_005055.5(RAPSN):c.790-15C>T
|
|
|
NM_005055.5(RAPSN):c.790-17C>G
|
|
|
NM_005055.5(RAPSN):c.790-17C>T
|
|
|
NM_005055.5(RAPSN):c.790-19C>A
|
|
|
NM_005055.5(RAPSN):c.790-6C>T
|
rs2076365864
|
|
NM_005055.5(RAPSN):c.790-9G>C
|
|
|
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr)
|
rs200695559
|
|
NM_005055.5(RAPSN):c.798C>T (p.Phe266=)
|
rs1487536762
|
|
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
|
|
|
NM_005055.5(RAPSN):c.79C>T (p.Gln27Ter)
|
|
|
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=)
|
rs104894301
|
|
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
|
|
|
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)
|
rs1397711588
|
|
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
|
|
|
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
|
|
|
NM_005055.5(RAPSN):c.831C>A (p.Thr277=)
|
rs148078235
|
|
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys)
|
rs1418635230
|
|
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
|
|
|
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)
|
rs755310896
|
|
NM_005055.5(RAPSN):c.837C>T (p.Ile279=)
|
rs755310896
|
|
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)
|
rs1262674788
|
|
NM_005055.5(RAPSN):c.838G>T (p.Gly280Ter)
|
rs1262674788
|
|
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
|
|
|
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu)
|
rs143668632
|
|
NM_005055.5(RAPSN):c.846C>T (p.Arg282=)
|
rs1595898465
|
|
NM_005055.5(RAPSN):c.847C>T (p.Leu283=)
|
rs761730497
|
|
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg)
|
rs1294627986
|
|
NM_005055.5(RAPSN):c.853C>T (p.Gln285Ter)
|
rs1555142603
|
|
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
|
|
|
NM_005055.5(RAPSN):c.865C>T (p.Leu289=)
|
rs2153308454
|
|
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
|
|
|
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
|
|
|
NM_005055.5(RAPSN):c.872G>C (p.Gly291Ala)
|
rs374604570
|
|
NM_005055.5(RAPSN):c.885C>A (p.Cys295Ter)
|
|
|
NM_005055.5(RAPSN):c.888G>A (p.Trp296Ter)
|
|
|
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
|
|
|
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
|
|
|
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
|
|
|
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
|
|
|
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
|
|
|
NM_005055.5(RAPSN):c.911_912+1dup
|
rs2153308410
|
|
NM_005055.5(RAPSN):c.912+11G>A
|
|
|
NM_005055.5(RAPSN):c.912+15T>C
|
|
|
NM_005055.5(RAPSN):c.912+18C>T
|
|
|
NM_005055.5(RAPSN):c.912+9G>A
|
rs751790521
|
|
NM_005055.5(RAPSN):c.912+9G>C
|
|
|
NM_005055.5(RAPSN):c.912+9G>T
|
rs751790521
|
|
NM_005055.5(RAPSN):c.912G>A (p.Lys304=)
|
rs1273342588
|
|
NM_005055.5(RAPSN):c.913-1G>C
|
|
|
NM_005055.5(RAPSN):c.913-4C>T
|
|
|
NM_005055.5(RAPSN):c.913-7del
|
|
|
NM_005055.5(RAPSN):c.913-8C>A
|
rs2153308235
|
|
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
|
|
|
NM_005055.5(RAPSN):c.916C>T (p.Leu306=)
|
rs1262478144
|
|
NM_005055.5(RAPSN):c.919G>C (p.Asp307His)
|
rs1565683625
|
|
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
|
|
|
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
|
|
|
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
|
|
|
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
|
|
|
NM_005055.5(RAPSN):c.948C>A (p.Ala316=)
|
rs374676714
|
|
NM_005055.5(RAPSN):c.966+14C>G
|
|
|
NM_005055.5(RAPSN):c.966+19T>C
|
|
|
NM_005055.5(RAPSN):c.966+1_966+2delinsAG
|
rs2153308170
|
|
NM_005055.5(RAPSN):c.966+7C>G
|
rs1595898047
|
|
NM_005055.5(RAPSN):c.966+7C>T
|
|
|
NM_005055.5(RAPSN):c.967-19C>G
|
|
|
NM_005055.5(RAPSN):c.967-20T>C
|
|
|
NM_005055.5(RAPSN):c.967-4C>G
|
|
|
NM_005055.5(RAPSN):c.967-5C>A
|
|
|
NM_005055.5(RAPSN):c.967-5C>T
|
rs374686678
|
|
NM_005055.5(RAPSN):c.967-6C>A
|
|
|
NM_005055.5(RAPSN):c.967-7G>A
|
|
|
NM_005055.5(RAPSN):c.967-7G>C
|
rs1374385127
|
|
NM_005055.5(RAPSN):c.967-7G>T
|
rs1374385127
|
|
NM_005055.5(RAPSN):c.967-9G>C
|
|
|
NM_005055.5(RAPSN):c.96G>T (p.Val32=)
|
rs2076432156
|
|
NM_005055.5(RAPSN):c.972C>T (p.Ser324=)
|
rs2076338821
|
|
NM_005055.5(RAPSN):c.973C>T (p.Gln325Ter)
|
|
|
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)
|
rs528431446
|
|
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
|
|
|
NM_005055.5(RAPSN):c.984G>T (p.Leu328=)
|
rs1469910398
|
|
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg)
|
rs2076338568
|
|
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
|
|
|
NM_005055.5(RAPSN):c.991C>T (p.Leu331=)
|
rs1595896703
|
|
NM_005055.5(RAPSN):c.993G>T (p.Leu331=)
|
rs867698000
|
|
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg)
|
rs1013180221
|
|
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
|
|
|
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
|
|
|
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln)
|
rs201947904
|
|
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter)
|
rs201947904
|
|
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
|
|
|
NM_005055.5(RAPSN):c.99G>A (p.Leu33=)
|
rs2153311752
|
|
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
|
|
|
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr)
|
rs2077509392
|
|
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
|
|
|
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp)
|
rs764142979
|
|
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
|
|
|
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
|
|
|
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
|
|
|
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
|
|
|
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
|
|
|
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
|
|
|
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
|
|
|
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly)
|
rs201014623
|
|
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro)
|
rs1038479586
|
|
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
|
|
|
NM_005592.4(MUSK):c.1131C>T (p.His377=)
|
|
|
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
|
|
|
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
|
|
|
NM_005592.4(MUSK):c.1184+10C>G
|
rs2131956685
|
|
NM_005592.4(MUSK):c.1184+15A>C
|
|
|
NM_005592.4(MUSK):c.1184+20T>C
|
|
|
NM_005592.4(MUSK):c.1184+2T>C
|
|
|
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile)
|
rs2131956652
|
|
NM_005592.4(MUSK):c.1185-12A>G
|
|
|
NM_005592.4(MUSK):c.1185-14del
|
|
|
NM_005592.4(MUSK):c.1185-15C>T
|
|
|
NM_005592.4(MUSK):c.1185-17T>A
|
|
|
NM_005592.4(MUSK):c.1185-19T>A
|
|
|
NM_005592.4(MUSK):c.1185-19T>C
|
|
|
NM_005592.4(MUSK):c.1185-2A>G
|
|
|
NM_005592.4(MUSK):c.1185-7A>G
|
|
|
NM_005592.4(MUSK):c.1185-8T>G
|
rs371124725
|
|
NM_005592.4(MUSK):c.1185-9C>T
|
|
|
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
|
|
|
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
|
|
|
NM_005592.4(MUSK):c.1203A>G (p.Val401=)
|
rs1356218784
|
|
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
|
|
|
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
|
|
|
NM_005592.4(MUSK):c.1218C>T (p.Cys406=)
|
rs368395413
|
|
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
|
|
|
NM_005592.4(MUSK):c.1224A>G (p.Lys408=)
|
rs1588025437
|
|
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
|
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr)
|
rs930182416
|
|
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)
|
rs538655454
|
|
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
|
|
|
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys)
|
rs368044285
|
|
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
|
|
|
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
|
|
|
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp)
|
rs2131656584
|
|
NM_005592.4(MUSK):c.12C>A (p.Leu4=)
|
rs374456998
|
|
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
|
|
|
NM_005592.4(MUSK):c.12C>T (p.Leu4=)
|
rs374456998
|
|
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
|
|
|
NM_005592.4(MUSK):c.132G>A (p.Val44=)
|
|
|
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
|
|
|
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
|
|
|
NM_005592.4(MUSK):c.1360+11G>C
|
|
|
NM_005592.4(MUSK):c.1360+13T>C
|
|
|
NM_005592.4(MUSK):c.1360+14C>T
|
|
|
NM_005592.4(MUSK):c.1360+18C>T
|
|
|
NM_005592.4(MUSK):c.1360+1G>A
|
|
|
NM_005592.4(MUSK):c.1360+20A>G
|
|
|
NM_005592.4(MUSK):c.1360+7C>G
|
|
|
NM_005592.4(MUSK):c.1360+7_1360+8del
|
rs780843719
|
|
NM_005592.4(MUSK):c.1361-13C>A
|
|
|
NM_005592.4(MUSK):c.1361-7C>T
|
|
|
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
|
|
|
NM_005592.4(MUSK):c.1384+12T>C
|
|
|
NM_005592.4(MUSK):c.1384+14T>C
|
|
|
NM_005592.4(MUSK):c.1384+20C>G
|
|
|
NM_005592.4(MUSK):c.1384+5G>A
|
rs536529195
|
|
NM_005592.4(MUSK):c.1384+9T>C
|
|
|
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
|
|
|
NM_005592.4(MUSK):c.1385-12C>A
|
|
|
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
|
|
|
NM_005592.4(MUSK):c.13G>A (p.Val5Ile)
|
rs765874906
|
|
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
|
|
|
NM_005592.4(MUSK):c.1401G>T (p.Thr467=)
|
rs761610023
|
|
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
|
|
|
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
|
|
|
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
|
|
|
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
|
|
|
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
|
|
|
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)
|
rs754903785
|
|
NM_005592.4(MUSK):c.1452T>C (p.Ser484=)
|
rs1588037471
|
|
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
|
|
|
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
|
|
|
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
|
|
|
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
|
|
|
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile)
|
rs2132023110
|
|
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
|
|
|
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
|
|
|
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
|
|
|
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr)
|
rs886043719
|
|
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
|
|
|
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val)
|
rs1554755295
|
|
NM_005592.4(MUSK):c.1545C>T (p.Leu515=)
|
rs868435163
|
|
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
|
|
|
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del)
|
rs774582687
|
|
NM_005592.4(MUSK):c.1586+12G>A
|
|
|
NM_005592.4(MUSK):c.1586+15dup
|
|
|
NM_005592.4(MUSK):c.1586+16C>T
|
|
|
NM_005592.4(MUSK):c.1586+1G>A
|
|
|
NM_005592.4(MUSK):c.1586+7T>C
|
|
|
NM_005592.4(MUSK):c.1586+8T>C
|
|
|
NM_005592.4(MUSK):c.1587-14T>C
|
|
|
NM_005592.4(MUSK):c.1587-16C>T
|
|
|
NM_005592.4(MUSK):c.1587-5T>G
|
|
|
NM_005592.4(MUSK):c.1587-8G>C
|
rs980952719
|
|
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
|
|
|
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
|
|
|
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
|
|
|
NM_005592.4(MUSK):c.1605C>T (p.Thr535=)
|
rs760645831
|
|
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
|
|
|
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
|
|
|
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)
|
rs928134595
|
|
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
|
|
|
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
|
|
|
NM_005592.4(MUSK):c.1626del (p.Glu542fs)
|
rs2077841802
|
|
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
|
|
|
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
|
|
|
NM_005592.4(MUSK):c.165C>T (p.Pro55=)
|
rs766600402
|
|
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
|
|
|
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)
|
rs369745938
|
|
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
|
|
|
NM_005592.4(MUSK):c.1689C>T (p.Pro563=)
|
rs376052538
|
|
NM_005592.4(MUSK):c.1693T>C (p.Leu565=)
|
rs200787064
|
|
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
|
|
|
NM_005592.4(MUSK):c.1704G>T (p.Leu568=)
|
rs2077843780
|
|
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val)
|
rs2077843836
|
|
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
|
|
|
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
|
|
|
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
|
|
|
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
|
|
|
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)
|
rs752798426
|
|
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
|
|
|
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
|
|
|
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
|
|
|
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
|
|
|
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
|
|
|
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro)
|
rs779231840
|
|
NM_005592.4(MUSK):c.1778+18A>G
|
|
|
NM_005592.4(MUSK):c.1778+19A>C
|
|
|
NM_005592.4(MUSK):c.1778+1G>T
|
rs2132026515
|
|
NM_005592.4(MUSK):c.1778+25del
|
|
|
NM_005592.4(MUSK):c.1778+25dup
|
rs200937545
|
|
NM_005592.4(MUSK):c.1778+7T>C
|
rs1021982098
|
|
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
|
|
|
NM_005592.4(MUSK):c.1779-16T>C
|
|
|
NM_005592.4(MUSK):c.1779-20T>C
|
|
|
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg)
|
rs2077898016
|
|
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
|
|
|
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
|
|
|
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser)
|
rs2077898173
|
|
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser)
|
rs565780053
|
|
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu)
|
rs758777089
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
NM_005592.4(MUSK):c.1818G>A (p.Val606=)
|
rs2132034695
|
|
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
|
|
|
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
|
|
|
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
|
|
|
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
|
|
|
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp)
|
rs181652070
|
|
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
|
|
|
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
|
|
|
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr)
|
rs755642035
|
|
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val)
|
rs1292312575
|
|
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)
|
rs2077900685
|
|
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
|
|
|
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser)
|
rs1161007370
|
|
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
|
|
|
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
|
|
|
NM_005592.4(MUSK):c.1927+12C>A
|
|
|
NM_005592.4(MUSK):c.1927+17G>C
|
|
|
NM_005592.4(MUSK):c.1927+19G>A
|
|
|
NM_005592.4(MUSK):c.1927+8A>C
|
|
|
NM_005592.4(MUSK):c.1927+9dup
|
rs555725730
|
|
NM_005592.4(MUSK):c.1928-14T>C
|
|
|
NM_005592.4(MUSK):c.1928-14T>G
|
|
|
NM_005592.4(MUSK):c.1928-20G>T
|
|
|
NM_005592.4(MUSK):c.1928-4C>T
|
|
|
NM_005592.4(MUSK):c.1928-8G>C
|
|
|
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu)
|
rs2132065378
|
|
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
|
|
|
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
|
|
|
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
|
|
|
NM_005592.4(MUSK):c.2010del (p.Met670fs)
|
|
|
NM_005592.4(MUSK):c.2013C>G (p.Ser671=)
|
rs1564300316
|
|
NM_005592.4(MUSK):c.2013C>T (p.Ser671=)
|
rs1564300316
|
|
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
|
|
|
NM_005592.4(MUSK):c.2022C>T (p.Thr674=)
|
rs772683882
|
|
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
|
|
|
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
|
|
|
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
|
|
|
NM_005592.4(MUSK):c.2058G>A (p.Arg686=)
|
rs2132066129
|
|
NM_005592.4(MUSK):c.206+12A>T
|
|
|
NM_005592.4(MUSK):c.206+19_206+23del
|
|
|
NM_005592.4(MUSK):c.206+20A>T
|
|
|
NM_005592.4(MUSK):c.206+2T>C
|
|
|
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
|
|
|
NM_005592.4(MUSK):c.207-11G>A
|
|
|
NM_005592.4(MUSK):c.207-11G>C
|
|
|
NM_005592.4(MUSK):c.207-16T>C
|
|
|
NM_005592.4(MUSK):c.207-1G>A
|
|
|
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
|
|
|
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn)
|
rs2076206381
|
|
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
|
|
|
NM_005592.4(MUSK):c.2082C>T (p.Pro694=)
|
rs201616041
|
|
NM_005592.4(MUSK):c.2088C>A (p.Pro696=)
|
rs751434801
|
|
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
|
|
|
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
|
|
|
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
|
|
|
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
|
|
|
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
|
|
|
NM_005592.4(MUSK):c.2125G>A (p.Val709Met)
|
rs2132066572
|
|
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly)
|
rs758510906
|
|
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
|
|
|
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys)
|
rs769211968
|
|
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile)
|
rs750101214
|
|
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
|
|
|
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
|
|
|
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys)
|
rs770373727
|
|
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
|
|
|
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
|
|
|
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
|
|
|
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
|
|
|
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn)
|
rs781506865
|
|
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
|
|
|
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn)
|
rs2078078707
|
|
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
|
|
|
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del)
|
rs1588054209
|
|
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
|
|
|
NM_005592.4(MUSK):c.2277T>C (p.Asn759=)
|
rs2132067450
|
|
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
|
|
|
NM_005592.4(MUSK):c.228C>T (p.Ser76=)
|
rs768514590
|
|
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr)
|
rs1554757211
|
|
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
|
|
|
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)
|
rs560916681
|
|
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys)
|
rs2132067786
|
|
NM_005592.4(MUSK):c.232C>A (p.Arg78=)
|
rs747987063
|
|
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
|
|
|
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn)
|
rs2132067949
|
|
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
|
|
|
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
|
|
|
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
|
|
|
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
|
|
|
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
|
|
|
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
|
|
|
NM_005592.4(MUSK):c.2398C>T (p.Leu800=)
|
rs1303813392
|
|
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
|
|
|
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys)
|
rs533353279
|
|
NM_005592.4(MUSK):c.2423A>G (p.His808Arg)
|
rs2078084308
|
|
NM_005592.4(MUSK):c.243G>T (p.Gly81=)
|
rs1587897093
|
|
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp)
|
rs2078084758
|
|
NM_005592.4(MUSK):c.2443G>A (p.Val815Met)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
|
|
|
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
|
|
|
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
|
|
|
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)
|
rs2078085499
|
|
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
|
|
|
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
|
|
|
NM_005592.4(MUSK):c.2485G>A (p.Val829Met)
|
rs578430
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
|
|
|
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
|
|
|
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro)
|
rs2078086619
|
|
NM_005592.4(MUSK):c.2511A>G (p.Leu837=)
|
rs1447190013
|
|
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys)
|
rs1011593420
|
|
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
|
|
|
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala)
|
rs2131669584
|
|
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
|
|
|
NM_005592.4(MUSK):c.259C>G (p.Leu87Val)
|
rs1198739112
|
|
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
|
|
|
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
|
|
|
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
|
|
|
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
|
|
|
NM_005592.4(MUSK):c.300G>C (p.Thr100=)
|
rs180928221
|
|
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
|
|
|
NM_005592.4(MUSK):c.30A>G (p.Val10=)
|
|
|
NM_005592.4(MUSK):c.315G>C (p.Val105=)
|
|
|
NM_005592.4(MUSK):c.31_34del (p.His11fs)
|
|
|
NM_005592.4(MUSK):c.33T>C (p.His11=)
|
|
|
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
|
|
|
NM_005592.4(MUSK):c.348A>C (p.Gln116His)
|
rs2131670048
|
|
NM_005592.4(MUSK):c.351G>T (p.Val117=)
|
|
|
NM_005592.4(MUSK):c.358+17T>C
|
|
|
NM_005592.4(MUSK):c.358+18T>C
|
|
|
NM_005592.4(MUSK):c.358+19C>A
|
|
|
NM_005592.4(MUSK):c.358+20G>C
|
|
|
NM_005592.4(MUSK):c.358+9G>A
|
|
|
NM_005592.4(MUSK):c.359-16T>G
|
|
|
NM_005592.4(MUSK):c.359-7T>A
|
|
|
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn)
|
rs1318631379
|
|
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
|
|
|
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr)
|
rs760483928
|
|
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
|
|
|
NM_005592.4(MUSK):c.374G>A (p.Arg125His)
|
rs375737188
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
NM_005592.4(MUSK):c.375T>C (p.Arg125=)
|
rs2131713591
|
|
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg)
|
rs2076418979
|
|
NM_005592.4(MUSK):c.417C>G (p.Val139=)
|
|
|
NM_005592.4(MUSK):c.433A>G (p.Met145Val)
|
rs748144400
|
|
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
|
|
|
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
|
|
|
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
|
|
|
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg)
|
rs1587917824
|
|
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu)
|
rs1308383168
|
|
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
|
|
|
NM_005592.4(MUSK):c.486+16G>A
|
|
|
NM_005592.4(MUSK):c.486+1G>C
|
rs1204788520
|
|
NM_005592.4(MUSK):c.486+22del
|
|
|
NM_005592.4(MUSK):c.487-17G>A
|
|
|
NM_005592.4(MUSK):c.487-18C>T
|
|
|
NM_005592.4(MUSK):c.487-9C>T
|
|
|
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe)
|
rs1349731741
|
|
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
|
|
|
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
|
|
|
NM_005592.4(MUSK):c.509T>A (p.Leu170His)
|
rs1464415453
|
|
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
|
|
|
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr)
|
rs1554738557
|
|
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
|
|
|
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn)
|
rs1207568075
|
|
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
|
|
|
NM_005592.4(MUSK):c.573G>A (p.Val191=)
|
|
|
NM_005592.4(MUSK):c.581dup (p.Asn194fs)
|
rs1395885868
|
|
NM_005592.4(MUSK):c.582del (p.Asn194fs)
|
rs2131720596
|
|
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
|
|
|
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg)
|
rs768273510
|
|
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
|
|
|
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
|
|
|
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
|
|
|
NM_005592.4(MUSK):c.609G>A (p.Val203=)
|
rs762882154
|
|
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
|
|
|
NM_005592.4(MUSK):c.628+11G>A
|
|
|
NM_005592.4(MUSK):c.629-10T>C
|
rs753538572
|
|
NM_005592.4(MUSK):c.629-16del
|
|
|
NM_005592.4(MUSK):c.629-18C>T
|
|
|
NM_005592.4(MUSK):c.629-6T>C
|
|
|
NM_005592.4(MUSK):c.629-7C>T
|
|
|
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
|
|
|
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
|
|
|
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu)
|
rs188464904
|
|
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
|
|
|
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile)
|
rs55826142
|
|
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
|
|
|
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
|
|
|
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
|
|
|
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
|
|
|
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
|
|
|
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
|
rs1564253296
|
|
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
|
|
|
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
|
|
|
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp)
|
rs2077002366
|
|
NM_005592.4(MUSK):c.753+11T>C
|
|
|
NM_005592.4(MUSK):c.753+15T>C
|
|
|
NM_005592.4(MUSK):c.753+20G>A
|
|
|
NM_005592.4(MUSK):c.753+5G>A
|
rs2077002564
|
|
NM_005592.4(MUSK):c.753+8T>C
|
|
|
NM_005592.4(MUSK):c.754-1G>T
|
|
|
NM_005592.4(MUSK):c.754-2A>G
|
rs1587986079
|
|
NM_005592.4(MUSK):c.754-4T>C
|
|
|
NM_005592.4(MUSK):c.754-5G>C
|
rs991886956
|
|
NM_005592.4(MUSK):c.754-6T>G
|
|
|
NM_005592.4(MUSK):c.754-9C>T
|
|
|
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup)
|
rs1287375718
|
|
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
|
|
|
NM_005592.4(MUSK):c.762T>A (p.Ser254=)
|
rs2077190189
|
|
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
|
|
|
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
|
|
|
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
|
|
|
NM_005592.4(MUSK):c.780T>C (p.Ser260=)
|
rs886063353
|
|
NM_005592.4(MUSK):c.79+14A>G
|
|
|
NM_005592.4(MUSK):c.79+15T>C
|
|
|
NM_005592.4(MUSK):c.79+16C>T
|
|
|
NM_005592.4(MUSK):c.79+17G>A
|
|
|
NM_005592.4(MUSK):c.79+20T>C
|
|
|
NM_005592.4(MUSK):c.79+7T>C
|
|
|
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
|
|
|
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
|
|
|
NM_005592.4(MUSK):c.795G>A (p.Val265=)
|
|
|
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
|
|
|
NM_005592.4(MUSK):c.80-15C>A
|
|
|
NM_005592.4(MUSK):c.80-19A>T
|
|
|
NM_005592.4(MUSK):c.80-7C>A
|
|
|
NM_005592.4(MUSK):c.80-7_80-3del
|
|
|
NM_005592.4(MUSK):c.80-9T>C
|
|
|
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
|
|
|
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
|
|
|
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
|
|
|
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
|
|
|
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
|
|
|
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
|
|
|
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
|
|
|
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr)
|
rs2077193041
|
|
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
|
|
|
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
|
|
|
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
|
|
|
NM_005592.4(MUSK):c.864T>C (p.His288=)
|
|
|
NM_005592.4(MUSK):c.868del (p.Glu290fs)
|
|
|
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
|
|
|
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
|
|
|
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn)
|
rs1554749322
|
|
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile)
|
rs1554749322
|
|
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
|
|
|
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
|
|
|
NM_005592.4(MUSK):c.913+10C>T
|
|
|
NM_005592.4(MUSK):c.913+11C>T
|
|
|
NM_005592.4(MUSK):c.913+13T>C
|
|
|
NM_005592.4(MUSK):c.913+2T>C
|
|
|
NM_005592.4(MUSK):c.913+9C>T
|
|
|
NM_005592.4(MUSK):c.914-10C>A
|
|
|
NM_005592.4(MUSK):c.914-5A>G
|
|
|
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly)
|
rs1319203200
|
|
NM_005592.4(MUSK):c.920+10T>C
|
rs781462535
|
|
NM_005592.4(MUSK):c.920+11G>A
|
|
|
NM_005592.4(MUSK):c.920+11_920+12del
|
|
|
NM_005592.4(MUSK):c.920+1G>A
|
|
|
NM_005592.4(MUSK):c.920+20del
|
|
|
NM_005592.4(MUSK):c.920+5G>C
|
|
|
NM_005592.4(MUSK):c.920+9C>T
|
rs2131931808
|
|
NM_005592.4(MUSK):c.921-18_921-16del
|
|
|
NM_005592.4(MUSK):c.921-7C>T
|
rs2131955302
|
|
NM_005592.4(MUSK):c.935A>T (p.Asp312Val)
|
rs1362784498
|
|
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn)
|
rs2131955443
|
|
NM_005592.4(MUSK):c.946T>C (p.Tyr316His)
|
rs757775674
|
|
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
|
|
|
NM_005592.4(MUSK):c.954C>A (p.Ala318=)
|
rs968145791
|
|
NM_005592.4(MUSK):c.954C>G (p.Ala318=)
|
rs968145791
|
|
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg)
|
rs1449532775
|
|
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala)
|
rs2131955587
|
|
NM_005592.4(MUSK):c.990A>G (p.Ala330=)
|
rs1588014706
|
|
NM_005677.4(COLQ):c.1005C>T (p.Asn335=)
|
|
|
NM_005677.4(COLQ):c.1016T>C (p.Phe339Ser)
|
rs2062027386
|
|
NM_005677.4(COLQ):c.1021A>G (p.Arg341Gly)
|
rs2062027221
|
|
NM_005677.4(COLQ):c.1026C>A (p.Asp342Glu)
|
|
|
NM_005677.4(COLQ):c.1031G>A (p.Arg344Lys)
|
rs149532541
|
|
NM_005677.4(COLQ):c.103G>A (p.Ala35Thr)
|
rs2125197454
|
|
NM_005677.4(COLQ):c.106+11G>A
|
|
|
NM_005677.4(COLQ):c.106+18C>G
|
|
|
NM_005677.4(COLQ):c.106+2_106+10del
|
|
|
NM_005677.4(COLQ):c.106+5A>G
|
rs755773953
|
|
NM_005677.4(COLQ):c.106+7G>T
|
rs766993036
|
|
NM_005677.4(COLQ):c.107-1G>A
|
rs1269227357
|
|
NM_005677.4(COLQ):c.107-20C>T
|
rs757966613
|
|
NM_005677.4(COLQ):c.107-2dup
|
rs2062631055
|
|
NM_005677.4(COLQ):c.1082del (p.Pro361fs)
|
rs769982050
|
|
NM_005677.4(COLQ):c.1085T>C (p.Phe362Ser)
|
rs754357969
|
|
NM_005677.4(COLQ):c.1089C>T (p.Tyr363=)
|
rs752967536
|
|
NM_005677.4(COLQ):c.1090C>G (p.Pro364Ala)
|
rs1357228486
|
|
NM_005677.4(COLQ):c.109dup (p.Leu37fs)
|
|
|
NM_005677.4(COLQ):c.1102A>G (p.Thr368Ala)
|
rs2062019023
|
|
NM_005677.4(COLQ):c.1106C>T (p.Ala369Val)
|
rs970111842
|
|
NM_005677.4(COLQ):c.1111C>T (p.Gln371Ter)
|
rs2125085542
|
|
NM_005677.4(COLQ):c.1129del (p.Asp377fs)
|
rs1559511788
|
|
NM_005677.4(COLQ):c.1152G>A (p.Glu384=)
|
|
|
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)
|
rs1008156537
|
|
NM_005677.4(COLQ):c.116G>T (p.Ser39Ile)
|
rs1289941307
|
|
NM_005677.4(COLQ):c.1172_1173delinsAG (p.Ser391Lys)
|
rs2125085391
|
|
NM_005677.4(COLQ):c.1186G>A (p.Asp396Asn)
|
rs748582765
|
|
NM_005677.4(COLQ):c.118del (p.Leu40fs)
|
|
|
NM_005677.4(COLQ):c.1195+17C>A
|
|
|
NM_005677.4(COLQ):c.1195+17C>T
|
|
|
NM_005677.4(COLQ):c.1195+2T>C
|
rs2125085333
|
|
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly)
|
rs779594053
|
|
NM_005677.4(COLQ):c.1196-17T>A
|
|
|
NM_005677.4(COLQ):c.1196-19C>A
|
|
|
NM_005677.4(COLQ):c.1200T>C (p.Cys400=)
|
|
|
NM_005677.4(COLQ):c.1209C>G (p.Ala403=)
|
|
|
NM_005677.4(COLQ):c.1209C>T (p.Ala403=)
|
|
|
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
|
|
|
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
|
|
|
NM_005677.4(COLQ):c.1221T>C (p.Asp407=)
|
|
|
NM_005677.4(COLQ):c.1225dup (p.His409fs)
|
rs1559510978
|
|
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
|
|
|
NM_005677.4(COLQ):c.1257C>T (p.Gly419=)
|
rs1188131165
|
|
NM_005677.4(COLQ):c.1281C>A (p.Cys427Ter)
|
rs185829251
|
|
NM_005677.4(COLQ):c.1298+19C>G
|
rs1165126069
|
|
NM_005677.4(COLQ):c.1298+3A>G
|
rs1384843815
|
|
NM_005677.4(COLQ):c.1298+7A>T
|
|
|
NM_005677.4(COLQ):c.1299-9C>T
|
rs1372494255
|
|
NM_005677.4(COLQ):c.1299G>A (p.Gly433=)
|
rs754755194
|
|
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
|
|
|
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
|
|
|
NM_005677.4(COLQ):c.1324_1326del (p.Gln442del)
|
rs2125077483
|
|
NM_005677.4(COLQ):c.1338C>A (p.Ile446=)
|
rs73818504
|
|
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met)
|
rs73818504
|
|
NM_005677.4(COLQ):c.1338C>T (p.Ile446=)
|
rs73818504
|
|
NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)
|
|
|
NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser)
|
rs2061943968
|
|
NM_005677.4(COLQ):c.134G>A (p.Arg45His)
|
rs761717418
|
|
NM_005677.4(COLQ):c.134G>C (p.Arg45Pro)
|
rs761717418
|
|
NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr)
|
rs1455550822
|
|
NM_005677.4(COLQ):c.135T>C (p.Arg45=)
|
rs551550075
|
|
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg)
|
rs188841362
|
|
NM_005677.4(COLQ):c.140G>T (p.Gly47Val)
|
rs1411203931
|
|
NM_005677.4(COLQ):c.141C>T (p.Gly47=)
|
|
|
NM_005677.4(COLQ):c.151T>C (p.Cys51Arg)
|
rs1575483857
|
|
NM_005677.4(COLQ):c.154T>C (p.Cys52Arg)
|
rs2062629371
|
|
NM_005677.4(COLQ):c.157dup (p.Leu53fs)
|
rs971863968
|
|
NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)
|
|
|
NM_005677.4(COLQ):c.165G>C (p.Thr55=)
|
|
|
NM_005677.4(COLQ):c.165G>T (p.Thr55=)
|
|
|
NM_005677.4(COLQ):c.168T>G (p.Pro56=)
|
rs1575483827
|
|
NM_005677.4(COLQ):c.168TCC[1] (p.Pro60del)
|
rs753308023
|
|
NM_005677.4(COLQ):c.169C>T (p.Pro57Ser)
|
rs2125139116
|
|
NM_005677.4(COLQ):c.175C>T (p.Pro59Ser)
|
|
|
NM_005677.4(COLQ):c.176C>A (p.Pro59Gln)
|
|
|
NM_005677.4(COLQ):c.191C>T (p.Pro64Leu)
|
rs188737921
|
|
NM_005677.4(COLQ):c.209G>T (p.Gly70Val)
|
|
|
NM_005677.4(COLQ):c.219+11T>C
|
rs2125138945
|
|
NM_005677.4(COLQ):c.220-19G>A
|
|
|
NM_005677.4(COLQ):c.235A>G (p.Met79Val)
|
|
|
NM_005677.4(COLQ):c.247A>T (p.Met83Leu)
|
rs1575482990
|
|
NM_005677.4(COLQ):c.252G>A (p.Leu84=)
|
rs2062609459
|
|
NM_005677.4(COLQ):c.25T>C (p.Leu9=)
|
|
|
NM_005677.4(COLQ):c.275C>T (p.Pro92Leu)
|
rs757464366
|
|
NM_005677.4(COLQ):c.291G>T (p.Ser97=)
|
rs115201284
|
|
NM_005677.4(COLQ):c.292C>T (p.Leu98=)
|
|
|
NM_005677.4(COLQ):c.305G>A (p.Gly102Glu)
|
rs2062606840
|
|
NM_005677.4(COLQ):c.311C>A (p.Pro104His)
|
|
|
NM_005677.4(COLQ):c.321+18G>C
|
rs944034091
|
|
NM_005677.4(COLQ):c.321+7G>T
|
|
|
NM_005677.4(COLQ):c.322-15A>G
|
|
|
NM_005677.4(COLQ):c.322-16del
|
rs772475794
|
|
NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)
|
|
|
NM_005677.4(COLQ):c.361G>T (p.Glu121Ter)
|
rs2125123167
|
|
NM_005677.4(COLQ):c.366+15T>C
|
|
|
NM_005677.4(COLQ):c.366+1G>C
|
rs2125123160
|
|
NM_005677.4(COLQ):c.377del (p.Gly126fs)
|
rs759874172
|
|
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly)
|
rs143766249
|
|
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter)
|
rs143766249
|
|
NM_005677.4(COLQ):c.37C>G (p.Leu13Val)
|
rs770933718
|
|
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
|
|
|
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys)
|
rs750806839
|
|
NM_005677.4(COLQ):c.393+1G>A
|
rs1085307792
|
|
NM_005677.4(COLQ):c.394-19T>C
|
|
|
NM_005677.4(COLQ):c.395G>T (p.Gly132Val)
|
rs1272787369
|
|
NM_005677.4(COLQ):c.404G>C (p.Gly135Ala)
|
rs1443896327
|
|
NM_005677.4(COLQ):c.405C>A (p.Gly135=)
|
rs762810817
|
|
NM_005677.4(COLQ):c.408C>T (p.Pro136=)
|
|
|
NM_005677.4(COLQ):c.424A>G (p.Met142Val)
|
rs2125119662
|
|
NM_005677.4(COLQ):c.462C>T (p.Pro154=)
|
rs2062392219
|
|
NM_005677.4(COLQ):c.466-14T>C
|
|
|
NM_005677.4(COLQ):c.466-20TCT[2]
|
rs1368152894
|
|
NM_005677.4(COLQ):c.466-4A>G
|
|
|
NM_005677.4(COLQ):c.478G>A (p.Asp160Asn)
|
|
|
NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)
|
|
|
NM_005677.4(COLQ):c.518T>C (p.Met173Thr)
|
|
|
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe)
|
rs1310878358
|
|
NM_005677.4(COLQ):c.528+18A>G
|
|
|
NM_005677.4(COLQ):c.529-17C>T
|
|
|
NM_005677.4(COLQ):c.529-2A>G
|
rs755236236
|
|
NM_005677.4(COLQ):c.529-4T>G
|
|
|
NM_005677.4(COLQ):c.54_57del (p.Ile20fs)
|
rs771879602
|
|
NM_005677.4(COLQ):c.555+16G>C
|
|
|
NM_005677.4(COLQ):c.555+5G>A
|
rs765867687
|
|
NM_005677.4(COLQ):c.555+7G>A
|
rs2125116104
|
|
NM_005677.4(COLQ):c.556-15A>T
|
|
|
NM_005677.4(COLQ):c.558A>G (p.Gly186=)
|
rs2125115076
|
|
NM_005677.4(COLQ):c.579C>G (p.Asp193Glu)
|
rs2062339652
|
|
NM_005677.4(COLQ):c.57dup (p.Ile20fs)
|
rs777102590
|
|
NM_005677.4(COLQ):c.588del (p.Gly198fs)
|
rs1559519107
|
|
NM_005677.4(COLQ):c.58A>G (p.Ile20Val)
|
rs909968550
|
|
NM_005677.4(COLQ):c.600+18T>C
|
rs2125114984
|
|
NM_005677.4(COLQ):c.601-12C>T
|
|
|
NM_005677.4(COLQ):c.601-16G>A
|
rs762479425
|
|
NM_005677.4(COLQ):c.619G>A (p.Gly207Arg)
|
|
|
NM_005677.4(COLQ):c.636+5_636+8del
|
rs1471567316
|
|
NM_005677.4(COLQ):c.636+8A>G
|
|
|
NM_005677.4(COLQ):c.637-11C>T
|
|
|
NM_005677.4(COLQ):c.637-19T>A
|
|
|
NM_005677.4(COLQ):c.655G>A (p.Gly219Ser)
|
rs2125109848
|
|
NM_005677.4(COLQ):c.661C>T (p.Pro221Ser)
|
rs2062265717
|
|
NM_005677.4(COLQ):c.664G>C (p.Gly222Arg)
|
rs1472096340
|
|
NM_005677.4(COLQ):c.674G>A (p.Gly225Glu)
|
rs780362486
|
|
NM_005677.4(COLQ):c.682G>T (p.Gly228Ter)
|
|
|
NM_005677.4(COLQ):c.686C>A (p.Pro229His)
|
rs2062264716
|
|
NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)
|
|
|
NM_005677.4(COLQ):c.700G>T (p.Gly234Ter)
|
rs2062264317
|
|
NM_005677.4(COLQ):c.701G>A (p.Gly234Glu)
|
|
|
NM_005677.4(COLQ):c.702A>C (p.Gly234=)
|
rs2125109713
|
|
NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)
|
|
|
NM_005677.4(COLQ):c.717+16C>A
|
|
|
NM_005677.4(COLQ):c.717+4A>C
|
rs201550931
|
|
NM_005677.4(COLQ):c.717+9C>T
|
|
|
NM_005677.4(COLQ):c.718-14T>C
|
|
|
NM_005677.4(COLQ):c.718-9C>T
|
rs756975517
|
|
NM_005677.4(COLQ):c.718G>T (p.Gly240Ter)
|
rs104893735
|
|
NM_005677.4(COLQ):c.759G>A (p.Lys253=)
|
|
|
NM_005677.4(COLQ):c.769dup (p.Ser257fs)
|
rs2062200939
|
|
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser)
|
rs2063138065
|
|
NM_005677.4(COLQ):c.783C>A (p.Gly261=)
|
|
|
NM_005677.4(COLQ):c.783C>G (p.Gly261=)
|
rs745798750
|
|
NM_005677.4(COLQ):c.788dup (p.Pro265fs)
|
rs759911990
|
|
NM_005677.4(COLQ):c.792G>T (p.Gly264=)
|
rs1302815595
|
|
NM_005677.4(COLQ):c.798del (p.Gly267fs)
|
rs2125103406
|
|
NM_005677.4(COLQ):c.804C>T (p.Pro268=)
|
|
|
NM_005677.4(COLQ):c.814+12A>G
|
|
|
NM_005677.4(COLQ):c.814+12dup
|
|
|
NM_005677.4(COLQ):c.814+2T>C
|
rs1002244829
|
|
NM_005677.4(COLQ):c.815-1064del
|
|
|
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
|
|
|
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg)
|
rs1341977323
|
|
NM_005677.4(COLQ):c.847G>T (p.Gly283Ter)
|
|
|
NM_005677.4(COLQ):c.855C>A (p.Pro285=)
|
|
|
NM_005677.4(COLQ):c.855C>T (p.Pro285=)
|
rs758307097
|
|
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
|
|
|
NM_005677.4(COLQ):c.859C>T (p.Pro287Ser)
|
rs2125089134
|
|
NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)
|
|
|
NM_005677.4(COLQ):c.874C>T (p.Leu292Phe)
|
rs2062053361
|
|
NM_005677.4(COLQ):c.87C>T (p.Ser29=)
|
|
|
NM_005677.4(COLQ):c.889A>G (p.Met297Val)
|
|
|
NM_005677.4(COLQ):c.893del (p.Asn298fs)
|
rs2125089093
|
|
NM_005677.4(COLQ):c.903C>A (p.Asn301Lys)
|
rs1055184620
|
|
NM_005677.4(COLQ):c.905C>T (p.Pro302Leu)
|
|
|
NM_005677.4(COLQ):c.924G>A (p.Val308=)
|
|
|
NM_005677.4(COLQ):c.955-7C>G
|
rs762298520
|
|
NM_005677.4(COLQ):c.955-9C>T
|
|
|
NM_005677.4(COLQ):c.970A>C (p.Asn324His)
|
rs201036462
|
|
NM_005677.4(COLQ):c.987G>C (p.Glu329Asp)
|
rs758991725
|
|
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
|
rs121912823
|
|
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu)
|
rs1462079971
|
|
NM_020549.5(CHAT):c.1023C>G (p.Ser341=)
|
|
|
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys)
|
|
|
NM_020549.5(CHAT):c.1027G>T (p.Glu343Ter)
|
|
|
NM_020549.5(CHAT):c.1041G>A (p.Leu347=)
|
|
|
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu)
|
rs1411738057
|
|
NM_020549.5(CHAT):c.1050T>C (p.Ile350=)
|
|
|
NM_020549.5(CHAT):c.1058_1061dup (p.Ser355fs)
|
|
|
NM_020549.5(CHAT):c.1060A>T (p.Thr354Ser)
|
rs2132735749
|
|
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp)
|
rs61731735
|
|
NM_020549.5(CHAT):c.1077C>T (p.Ser359=)
|
|
|
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys)
|
|
|
NM_020549.5(CHAT):c.1080G>A (p.Glu360=)
|
|
|
NM_020549.5(CHAT):c.1086C>G (p.Ala362=)
|
|
|
NM_020549.5(CHAT):c.1092C>A (p.Ala364=)
|
|
|
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met)
|
rs533289708
|
|
NM_020549.5(CHAT):c.1104C>T (p.Leu368=)
|
|
|
NM_020549.5(CHAT):c.1110_1111delAG (p.Asp371fs)
|
|
|
NM_020549.5(CHAT):c.1111+11G>A
|
|
|
NM_020549.5(CHAT):c.1111+13G>A
|
|
|
NM_020549.5(CHAT):c.1111+16C>T
|
|
|
NM_020549.5(CHAT):c.1112-12C>A
|
|
|
NM_020549.5(CHAT):c.1112-14T>C
|
|
|
NM_020549.5(CHAT):c.1112-16C>T
|
|
|
NM_020549.5(CHAT):c.1112-20T>G
|
|
|
NM_020549.5(CHAT):c.1112-4G>A
|
|
|
NM_020549.5(CHAT):c.1112-5T>C
|
|
|
NM_020549.5(CHAT):c.1112-6C>A
|
|
|
NM_020549.5(CHAT):c.1112-8C>T
|
|
|
NM_020549.5(CHAT):c.111C>T (p.Leu37=)
|
|
|
NM_020549.5(CHAT):c.1123C>A (p.Arg375=)
|
rs141794970
|
|
NM_020549.5(CHAT):c.1125G>A (p.Arg375=)
|
|
|
NM_020549.5(CHAT):c.1137C>T (p.Asp379=)
|
|
|
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro)
|
rs779919147
|
|
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met)
|
rs1209379806
|
|
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu)
|
rs747366078
|
|
NM_020549.5(CHAT):c.1167C>T (p.Cys389=)
|
|
|
NM_020549.5(CHAT):c.1176G>A (p.Ala392=)
|
|
|
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
|
|
|
NM_020549.5(CHAT):c.1179A>G (p.Pro393=)
|
rs1013445287
|
|
NM_020549.5(CHAT):c.1188G>A (p.Val396=)
|
|
|
NM_020549.5(CHAT):c.1194C>T (p.Leu398=)
|
|
|
NM_020549.5(CHAT):c.1198G>C (p.Asp400His)
|
rs8178991
|
|
NM_020549.5(CHAT):c.1203C>A (p.Thr401=)
|
|
|
NM_020549.5(CHAT):c.120T>C (p.Gly40=)
|
|
|
NM_020549.5(CHAT):c.1224T>C (p.Leu408=)
|
|
|
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala)
|
rs1441347177
|
|
NM_020549.5(CHAT):c.1230C>A (p.Gly410=)
|
|
|
NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)
|
|
|
NM_020549.5(CHAT):c.1233A>G (p.Gly411=)
|
|
|
NM_020549.5(CHAT):c.1236C>A (p.Gly412=)
|
|
|
NM_020549.5(CHAT):c.1242C>T (p.Ser414=)
|
|
|
NM_020549.5(CHAT):c.1251G>C (p.Gly417=)
|
|
|
NM_020549.5(CHAT):c.1254C>T (p.Ala418=)
|
|
|
NM_020549.5(CHAT):c.1262G>C (p.Trp421Ser)
|
|
|
NM_020549.5(CHAT):c.1263G>A (p.Trp421Ter)
|
|
|
NM_020549.5(CHAT):c.1269C>T (p.Asp423=)
|
|
|
NM_020549.5(CHAT):c.126C>T (p.Arg42=)
|
|
|
NM_020549.5(CHAT):c.1278G>A (p.Leu426=)
|
|
|
NM_020549.5(CHAT):c.1281+6C>T
|
rs745923819
|
|
NM_020549.5(CHAT):c.1282-11T>C
|
|
|
NM_020549.5(CHAT):c.1282-13T>C
|
|
|
NM_020549.5(CHAT):c.1282-14_1282-13del
|
|
|
NM_020549.5(CHAT):c.1282-16C>T
|
|
|
NM_020549.5(CHAT):c.1282-19T>C
|
|
|
NM_020549.5(CHAT):c.1282-2A>T
|
|
|
NM_020549.5(CHAT):c.1282-4G>A
|
|
|
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala)
|
rs1839755600
|
|
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala)
|
|
|
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys)
|
rs1554807467
|
|
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln)
|
|
|
NM_020549.5(CHAT):c.1299C>T (p.Asp433=)
|
|
|
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser)
|
rs562560467
|
|
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala)
|
|
|
NM_020549.5(CHAT):c.1326C>T (p.His442=)
|
|
|
NM_020549.5(CHAT):c.1341C>T (p.Gly447=)
|
rs1014316815
|
|
NM_020549.5(CHAT):c.1344C>T (p.Ile448=)
|
rs754253168
|
|
NM_020549.5(CHAT):c.1347C>T (p.Val449=)
|
|
|
NM_020549.5(CHAT):c.1356G>A (p.Gln452=)
|
|
|
NM_020549.5(CHAT):c.1359_1363del (p.Cys453_Glu455delinsTer)
|
|
|
NM_020549.5(CHAT):c.135G>A (p.Pro45=)
|
|
|
NM_020549.5(CHAT):c.135G>C (p.Pro45=)
|
rs954236201
|
|
NM_020549.5(CHAT):c.135G>T (p.Pro45=)
|
|
|
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser)
|
rs745938985
|
|
NM_020549.5(CHAT):c.1362T>C (p.Thr454=)
|
|
|
NM_020549.5(CHAT):c.1362T>G (p.Thr454=)
|
|
|
NM_020549.5(CHAT):c.1371G>A (p.Leu457=)
|
rs1274962675
|
|
NM_020549.5(CHAT):c.1381= (p.Val461=)
|
rs4838544
|
|
NM_020549.5(CHAT):c.1381G>A (p.Val461Met)
|
rs4838544
|
|
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu)
|
rs4838544
|
|
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
|
|
|
NM_020549.5(CHAT):c.1382+18G>A
|
|
|
NM_020549.5(CHAT):c.1382+8T>G
|
|
|
NM_020549.5(CHAT):c.1383-16G>T
|
|
|
NM_020549.5(CHAT):c.1383-17T>C
|
|
|
NM_020549.5(CHAT):c.1383-17T>G
|
|
|
NM_020549.5(CHAT):c.1383-1G>A
|
rs2132811750
|
|
NM_020549.5(CHAT):c.1383-20G>A
|
|
|
NM_020549.5(CHAT):c.1383-20G>C
|
|
|
NM_020549.5(CHAT):c.1383-5C>T
|
|
|
NM_020549.5(CHAT):c.1383-7C>T
|
|
|
NM_020549.5(CHAT):c.1383G>A (p.Val461=)
|
|
|
NM_020549.5(CHAT):c.1386G>T (p.Thr462=)
|
|
|
NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)
|
|
|
NM_020549.5(CHAT):c.1389G>A (p.Gln463=)
|
|
|
NM_020549.5(CHAT):c.138C>A (p.Gly46=)
|
|
|
NM_020549.5(CHAT):c.1398G>A (p.Arg466=)
|
|
|
NM_020549.5(CHAT):c.1401G>A (p.Lys467=)
|
rs1305182651
|
|
NM_020549.5(CHAT):c.1404G>A (p.Leu468=)
|
|
|
NM_020549.5(CHAT):c.1408C>A (p.Arg470=)
|
rs142889639
|
|
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly)
|
|
|
NM_020549.5(CHAT):c.1408C>T (p.Arg470Ter)
|
rs142889639
|
|
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro)
|
rs774834313
|
|
NM_020549.5(CHAT):c.1410A>C (p.Arg470=)
|
|
|
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn)
|
rs2132811983
|
|
NM_020549.5(CHAT):c.1419C>A (p.Ser473=)
|
rs200175587
|
|
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu)
|
rs371719364
|
|
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg)
|
rs553771451
|
|
NM_020549.5(CHAT):c.1425C>T (p.Ser475=)
|
|
|
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr)
|
|
|
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro)
|
rs3793795
|
|
NM_020549.5(CHAT):c.1435del (p.Ala479fs)
|
|
|
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val)
|
rs1319866298
|
|
NM_020549.5(CHAT):c.1437C>T (p.Ala479=)
|
rs2132812100
|
|
NM_020549.5(CHAT):c.1438_1444del (p.Pro480fs)
|
|
|
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg)
|
rs1839799283
|
|
NM_020549.5(CHAT):c.1441C>A (p.Arg481=)
|
|
|
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp)
|
rs751583653
|
|
NM_020549.5(CHAT):c.1441del (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1441dup (p.Arg481fs)
|
|
|
NM_020549.5(CHAT):c.1444A>G (p.Arg482Gly)
|
rs121912818
|
|
NM_020549.5(CHAT):c.1449G>T (p.Leu483=)
|
|
|
NM_020549.5(CHAT):c.1450C>A (p.Arg484=)
|
|
|
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp)
|
rs778801148
|
|
NM_020549.5(CHAT):c.1455G>A (p.Trp485Ter)
|
|
|
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser)
|
|
|
NM_020549.5(CHAT):c.1464C>A (p.Ser488=)
|
rs1590611293
|
|
NM_020549.5(CHAT):c.146dup (p.Gly50fs)
|
rs1838395196
|
|
NM_020549.5(CHAT):c.1473T>A (p.Ile491=)
|
|
|
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val)
|
rs1180007688
|
|
NM_020549.5(CHAT):c.1479C>A (p.Gly493=)
|
|
|
NM_020549.5(CHAT):c.1481A>C (p.His494Pro)
|
rs1247659665
|
|
NM_020549.5(CHAT):c.1482C>T (p.His494=)
|
|
|
NM_020549.5(CHAT):c.1488C>G (p.Ala496=)
|
|
|
NM_020549.5(CHAT):c.1488C>T (p.Ala496=)
|
|
|
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr)
|
rs141878259
|
|
NM_020549.5(CHAT):c.150C>A (p.Gly50=)
|
rs1275077667
|
|
NM_020549.5(CHAT):c.1511+12C>T
|
|
|
NM_020549.5(CHAT):c.1511+13G>T
|
|
|
NM_020549.5(CHAT):c.1511+18C>T
|
|
|
NM_020549.5(CHAT):c.1511+19T>G
|
rs867084609
|
|
NM_020549.5(CHAT):c.1511+20C>T
|
|
|
NM_020549.5(CHAT):c.1511+8T>C
|
|
|
NM_020549.5(CHAT):c.1512-10T>C
|
rs2132820333
|
|
NM_020549.5(CHAT):c.1512-10del
|
|
|
NM_020549.5(CHAT):c.1512-12T>C
|
|
|
NM_020549.5(CHAT):c.1512-14T>A
|
|
|
NM_020549.5(CHAT):c.1512-18T>C
|
|
|
NM_020549.5(CHAT):c.1512-20C>A
|
|
|
NM_020549.5(CHAT):c.1539_1542del (p.Tyr514fs)
|
|
|
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_020549.5(CHAT):c.1542T>A (p.Tyr514Ter)
|
|
|
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met)
|
|
|
NM_020549.5(CHAT):c.156C>G (p.Ala52=)
|
|
|
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg)
|
rs968331105
|
|
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr)
|
|
|
NM_020549.5(CHAT):c.159G>A (p.Gly53=)
|
|
|
NM_020549.5(CHAT):c.1605C>T (p.Ile535=)
|
rs772695708
|
|
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val)
|
rs1839894638
|
|
NM_020549.5(CHAT):c.1614C>T (p.Ala538=)
|
|
|
NM_020549.5(CHAT):c.1617C>G (p.Leu539=)
|
|
|
NM_020549.5(CHAT):c.1620dup (p.Leu541fs)
|
rs2132820703
|
|
NM_020549.5(CHAT):c.1626C>T (p.Ala542=)
|
|
|
NM_020549.5(CHAT):c.1634+11G>C
|
|
|
NM_020549.5(CHAT):c.1634+17T>G
|
|
|
NM_020549.5(CHAT):c.1634+18G>A
|
|
|
NM_020549.5(CHAT):c.1634+7G>A
|
|
|
NM_020549.5(CHAT):c.1635-12C>T
|
|
|
NM_020549.5(CHAT):c.1635-16C>T
|
|
|
NM_020549.5(CHAT):c.1635-4G>A
|
|
|
NM_020549.5(CHAT):c.1635-5C>T
|
rs776745899
|
|
NM_020549.5(CHAT):c.1641_1642delinsCT (p.Arg548Ter)
|
|
|
NM_020549.5(CHAT):c.1650G>A (p.Leu550=)
|
|
|
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu)
|
rs1564493573
|
|
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly)
|
rs1554808432
|
|
NM_020549.5(CHAT):c.1663G>A (p.Glu555Lys)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)
|
rs757303526
|
|
NM_020549.5(CHAT):c.1665G>A (p.Glu555=)
|
|
|
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)
|
|
|
NM_020549.5(CHAT):c.1678C>T (p.Arg560Cys)
|
|
|
NM_020549.5(CHAT):c.168C>A (p.Gly56=)
|
|
|
NM_020549.5(CHAT):c.1695A>C (p.Gly565=)
|
|
|
NM_020549.5(CHAT):c.1697G>A (p.Arg566His)
|
rs1411285839
|
|
NM_020549.5(CHAT):c.1698C>T (p.Arg566=)
|
rs760452753
|
|
NM_020549.5(CHAT):c.1699G>A (p.Val567Met)
|
|
|
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala)
|
rs1839994676
|
|
NM_020549.5(CHAT):c.1701G>T (p.Val567=)
|
|
|
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)
|
|
|
NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)
|
rs753652169
|
|
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val)
|
rs1839995687
|
|
NM_020549.5(CHAT):c.1721C>T (p.Thr574Ile)
|
rs1839995781
|
|
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val)
|
|
|
NM_020549.5(CHAT):c.1728G>A (p.Glu576=)
|
rs2132830737
|
|
NM_020549.5(CHAT):c.1731A>G (p.Ala577=)
|
|
|
NM_020549.5(CHAT):c.1732C>T (p.Leu578=)
|
|
|
NM_020549.5(CHAT):c.1746A>G (p.Arg582=)
|
rs779923095
|
|
NM_020549.5(CHAT):c.1749C>T (p.Ala583=)
|
|
|
NM_020549.5(CHAT):c.174C>A (p.Ser58Arg)
|
rs572002174
|
|
NM_020549.5(CHAT):c.1764G>A (p.Lys588=)
|
|
|
NM_020549.5(CHAT):c.1767T>C (p.Ala589=)
|
|
|
NM_020549.5(CHAT):c.1776+10G>A
|
|
|
NM_020549.5(CHAT):c.1776+11C>T
|
|
|
NM_020549.5(CHAT):c.1776+12C>T
|
|
|
NM_020549.5(CHAT):c.1776+15A>G
|
|
|
NM_020549.5(CHAT):c.1776+15_1776+17del
|
|
|
NM_020549.5(CHAT):c.1776+16C>A
|
|
|
NM_020549.5(CHAT):c.1776+16C>G
|
|
|
NM_020549.5(CHAT):c.1776+18C>A
|
|
|
NM_020549.5(CHAT):c.1776+7C>A
|
|
|
NM_020549.5(CHAT):c.1776+7C>G
|
|
|
NM_020549.5(CHAT):c.1776+7C>T
|
|
|
NM_020549.5(CHAT):c.1777-11T>C
|
|
|
NM_020549.5(CHAT):c.1777-13G>A
|
|
|
NM_020549.5(CHAT):c.1777-17_1777-16del
|
|
|
NM_020549.5(CHAT):c.1777-20C>A
|
|
|
NM_020549.5(CHAT):c.1777-7T>C
|
|
|
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr)
|
|
|
NM_020549.5(CHAT):c.177C>T (p.Pro59=)
|
|
|
NM_020549.5(CHAT):c.1782T>C (p.Ser594=)
|
|
|
NM_020549.5(CHAT):c.1785G>A (p.Glu595=)
|
|
|
NM_020549.5(CHAT):c.1794G>T (p.Leu598=)
|
|
|
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe)
|
|
|
NM_020549.5(CHAT):c.1797C>T (p.Leu599=)
|
|
|
NM_020549.5(CHAT):c.1800G>A (p.Leu600=)
|
|
|
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr)
|
rs923971969
|
|
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser)
|
|
|
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu)
|
|
|
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala)
|
rs1840006246
|
|
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr)
|
rs1840006355
|
|
NM_020549.5(CHAT):c.1839+12C>T
|
rs1554808562
|
|
NM_020549.5(CHAT):c.1839+13G>A
|
|
|
NM_020549.5(CHAT):c.1839+14C>T
|
rs1840007140
|
|
NM_020549.5(CHAT):c.1839+3G>A
|
rs1840006511
|
|
NM_020549.5(CHAT):c.1840-10A>G
|
|
|
NM_020549.5(CHAT):c.1840-13C>T
|
|
|
NM_020549.5(CHAT):c.1840-14C>G
|
|
|
NM_020549.5(CHAT):c.1840-17T>C
|
|
|
NM_020549.5(CHAT):c.1840-4A>G
|
|
|
NM_020549.5(CHAT):c.1840-7T>C
|
|
|
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val)
|
rs759151717
|
|
NM_020549.5(CHAT):c.1848A>T (p.Thr616=)
|
|
|
NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)
|
|
|
NM_020549.5(CHAT):c.1851G>A (p.Gly617=)
|
|
|
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu)
|
|
|
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser)
|
rs2132852411
|
|
NM_020549.5(CHAT):c.1860T>A (p.Ile620=)
|
|
|
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)
|
|
|
NM_020549.5(CHAT):c.1863C>T (p.Asp621=)
|
rs1590628381
|
|
NM_020549.5(CHAT):c.186C>T (p.Arg62=)
|
|
|
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)
|
rs116097791
|
|
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val)
|
|
|
NM_020549.5(CHAT):c.188C>T (p.Ala63Val)
|
|
|
NM_020549.5(CHAT):c.1891G>A (p.Ala631Thr)
|
|
|
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)
|
rs765840442
|
|
NM_020549.5(CHAT):c.1896_1918del (p.Ala633fs)
|
rs2132852540
|
|
NM_020549.5(CHAT):c.1897del (p.Ala633fs)
|
|
|
NM_020549.5(CHAT):c.1905C>A (p.Cys635Ter)
|
|
|
NM_020549.5(CHAT):c.1909G>T (p.Glu637Ter)
|
rs777684375
|
|
NM_020549.5(CHAT):c.1911G>A (p.Glu637=)
|
|
|
NM_020549.5(CHAT):c.1917C>T (p.Pro639=)
|
|
|
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys)
|
rs774403163
|
|
NM_020549.5(CHAT):c.1926C>T (p.Phe642=)
|
|
|
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp)
|
rs775011277
|
|
NM_020549.5(CHAT):c.1935A>G (p.Glu645=)
|
|
|
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro)
|
rs1242281029
|
|
NM_020549.5(CHAT):c.1944G>A (p.Leu648=)
|
|
|
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg)
|
|
|
NM_020549.5(CHAT):c.1950C>T (p.Ser650=)
|
|
|
NM_020549.5(CHAT):c.1956G>T (p.Arg652=)
|
|
|
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe)
|
rs1394460049
|
|
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)
|
|
|
NM_020549.5(CHAT):c.1977+10C>T
|
rs781627020
|
|
NM_020549.5(CHAT):c.1977+10del
|
rs751847133
|
|
NM_020549.5(CHAT):c.1977+11G>A
|
|
|
NM_020549.5(CHAT):c.1977+1_1977+9del
|
rs1207292931
|
|
NM_020549.5(CHAT):c.1978-15T>C
|
rs2132858259
|
|
NM_020549.5(CHAT):c.1978-20T>C
|
|
|
NM_020549.5(CHAT):c.1978-9C>A
|
|
|
NM_020549.5(CHAT):c.1978-9C>G
|
|
|
NM_020549.5(CHAT):c.1980G>A (p.Val660=)
|
|
|
NM_020549.5(CHAT):c.1995G>A (p.Glu665=)
|
|
|
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp)
|
|
|
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr)
|
rs1485449042
|
|
NM_020549.5(CHAT):c.2010T>C (p.Tyr670=)
|
|
|
NM_020549.5(CHAT):c.2013T>C (p.Gly671=)
|
|
|
NM_020549.5(CHAT):c.2016T>C (p.Pro672=)
|
|
|
NM_020549.5(CHAT):c.2019G>A (p.Val673=)
|
|
|
NM_020549.5(CHAT):c.201C>A (p.Pro67=)
|
|
|
NM_020549.5(CHAT):c.2022C>T (p.Val674=)
|
|
|
NM_020549.5(CHAT):c.2025A>G (p.Pro675=)
|
|
|
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val)
|
|
|
NM_020549.5(CHAT):c.2040C>G (p.Ala680=)
|
|
|
NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)
|
|
|
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln)
|
|
|
NM_020549.5(CHAT):c.2067C>A (p.Ile689=)
|
|
|
NM_020549.5(CHAT):c.206C>A (p.Pro69His)
|
rs1283840204
|
|
NM_020549.5(CHAT):c.208del (p.Leu70fs)
|
rs1838400244
|
|
NM_020549.5(CHAT):c.2094C>T (p.Ser698=)
|
|
|
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del)
|
rs750942168
|
|
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe)
|
rs1316112613
|
|
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg)
|
rs1286894680
|
|
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln)
|
rs1180855605
|
|
NM_020549.5(CHAT):c.2151C>T (p.Asp717=)
|
|
|
NM_020549.5(CHAT):c.2166C>T (p.Cys722=)
|
|
|
NM_020549.5(CHAT):c.2169T>C (p.Ser723=)
|
|
|
NM_020549.5(CHAT):c.2172G>T (p.Leu724=)
|
|
|
NM_020549.5(CHAT):c.2180C>A (p.Pro727His)
|
rs1554809701
|
|
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg)
|
rs1840309085
|
|
NM_020549.5(CHAT):c.2190C>T (p.Ser730=)
|
|
|
NM_020549.5(CHAT):c.2197T>C (p.Leu733=)
|
|
|
NM_020549.5(CHAT):c.219C>T (p.His73=)
|
|
|
NM_020549.5(CHAT):c.2205A>G (p.Thr735=)
|
|
|
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala)
|
rs1554801418
|
|
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys)
|
|
|
NM_020549.5(CHAT):c.2220G>A (p.Thr740=)
|
|
|
NM_020549.5(CHAT):c.2220G>C (p.Thr740=)
|
|
|
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile)
|
rs1840310830
|
|
NM_020549.5(CHAT):c.2232G>A (p.Gln744=)
|
|
|
NM_020549.5(CHAT):c.2238C>A (p.His746Gln)
|
rs1234288422
|
|
NM_020549.5(CHAT):c.2242C>G (p.Pro748Ala)
|
|
|
NM_020549.5(CHAT):c.2244T>G (p.Pro748=)
|
|
|
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)
|
|
|
NM_020549.5(CHAT):c.225C>A (p.Pro75=)
|
|
|
NM_020549.5(CHAT):c.228C>G (p.Ala76=)
|
|
|
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro)
|
rs1217500618
|
|
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln)
|
rs756348058
|
|
NM_020549.5(CHAT):c.240G>A (p.Glu80=)
|
|
|
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter)
|
rs1409154681
|
|
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn)
|
rs1444707075
|
|
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser)
|
rs1338798480
|
|
NM_020549.5(CHAT):c.252A>C (p.Ala84=)
|
rs112079336
|
|
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly)
|
rs1564469074
|
|
NM_020549.5(CHAT):c.255G>A (p.Ala85=)
|
|
|
NM_020549.5(CHAT):c.258G>A (p.Ser86=)
|
rs778636468
|
|
NM_020549.5(CHAT):c.261C>G (p.Ala87=)
|
|
|
NM_020549.5(CHAT):c.273G>A (p.Glu91=)
|
|
|
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln)
|
rs372298555
|
|
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg)
|
rs372298555
|
|
NM_020549.5(CHAT):c.276G>A (p.Pro92=)
|
rs745665140
|
|
NM_020549.5(CHAT):c.27G>A (p.Arg9=)
|
|
|
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly)
|
rs1838405822
|
|
NM_020549.5(CHAT):c.282A>G (p.Arg94=)
|
rs2132695418
|
|
NM_020549.5(CHAT):c.286+11GGGCT[4]
|
|
|
NM_020549.5(CHAT):c.286+12G>T
|
rs2132695528
|
|
NM_020549.5(CHAT):c.286+13G>A
|
|
|
NM_020549.5(CHAT):c.286+13G>T
|
|
|
NM_020549.5(CHAT):c.286+16G>A
|
|
|
NM_020549.5(CHAT):c.286+20_286+28del
|
|
|
NM_020549.5(CHAT):c.286+9_286+11del
|
|
|
NM_020549.5(CHAT):c.287-10T>C
|
rs770517566
|
|
NM_020549.5(CHAT):c.287-12C>T
|
|
|
NM_020549.5(CHAT):c.287-8G>A
|
|
|
NM_020549.5(CHAT):c.287-9G>C
|
|
|
NM_020549.5(CHAT):c.287G>T (p.Gly96Val)
|
rs1349499470
|
|
NM_020549.5(CHAT):c.294C>T (p.His98=)
|
|
|
NM_020549.5(CHAT):c.297C>G (p.Leu99=)
|
|
|
NM_020549.5(CHAT):c.300C>T (p.Cys100=)
|
|
|
NM_020549.5(CHAT):c.306T>C (p.Pro102=)
|
|
|
NM_020549.5(CHAT):c.30G>A (p.Gly10=)
|
rs528479799
|
|
NM_020549.5(CHAT):c.30G>C (p.Gly10=)
|
|
|
NM_020549.5(CHAT):c.30G>T (p.Gly10=)
|
|
|
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu)
|
rs2132701987
|
|
NM_020549.5(CHAT):c.315A>G (p.Gly105=)
|
|
|
NM_020549.5(CHAT):c.333C>T (p.Ile111=)
|
|
|
NM_020549.5(CHAT):c.33T>C (p.Leu11=)
|
|
|
NM_020549.5(CHAT):c.345C>A (p.Val115=)
|
rs917815714
|
|
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)
|
rs770749789
|
|
NM_020549.5(CHAT):c.372C>T (p.Pro124=)
|
|
|
NM_020549.5(CHAT):c.378T>C (p.Ser126=)
|
rs2132702237
|
|
NM_020549.5(CHAT):c.387+16A>G
|
|
|
NM_020549.5(CHAT):c.387+17G>A
|
|
|
NM_020549.5(CHAT):c.387+9C>T
|
|
|
NM_020549.5(CHAT):c.387T>A (p.Ser129=)
|
rs143723043
|
|
NM_020549.5(CHAT):c.388-11C>G
|
|
|
NM_020549.5(CHAT):c.388-11del
|
|
|
NM_020549.5(CHAT):c.388-12C>A
|
|
|
NM_020549.5(CHAT):c.388-12C>T
|
|
|
NM_020549.5(CHAT):c.388-16G>A
|
|
|
NM_020549.5(CHAT):c.388-17T>C
|
|
|
NM_020549.5(CHAT):c.388-18A>G
|
rs1016103413
|
|
NM_020549.5(CHAT):c.388-6T>C
|
rs2132710242
|
|
NM_020549.5(CHAT):c.399A>G (p.Lys133=)
|
|
|
NM_020549.5(CHAT):c.400C>T (p.Leu134=)
|
|
|
NM_020549.5(CHAT):c.405C>A (p.Pro135=)
|
|
|
NM_020549.5(CHAT):c.405C>G (p.Pro135=)
|
|
|
NM_020549.5(CHAT):c.405C>T (p.Pro135=)
|
rs757344796
|
|
NM_020549.5(CHAT):c.411C>T (p.Pro137=)
|
rs764063564
|
|
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln)
|
rs557059182
|
|
NM_020549.5(CHAT):c.418C>T (p.Gln140Ter)
|
rs794727516
|
|
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro)
|
|
|
NM_020549.5(CHAT):c.420G>A (p.Gln140=)
|
|
|
NM_020549.5(CHAT):c.432C>T (p.Ala144=)
|
|
|
NM_020549.5(CHAT):c.435G>T (p.Thr145=)
|
|
|
NM_020549.5(CHAT):c.439C>T (p.Leu147=)
|
rs1838632986
|
|
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg)
|
rs1838388018
|
|
NM_020549.5(CHAT):c.441G>A (p.Leu147=)
|
|
|
NM_020549.5(CHAT):c.444G>A (p.Gln148=)
|
|
|
NM_020549.5(CHAT):c.451C>A (p.Arg151=)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020549.5(CHAT):c.45G>A (p.Gly15=)
|
|
|
NM_020549.5(CHAT):c.45G>C (p.Gly15=)
|
|
|
NM_020549.5(CHAT):c.45del (p.Lys16fs)
|
rs1838387913
|
|
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro)
|
rs1838634644
|
|
NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)
|
rs1838635016
|
|
NM_020549.5(CHAT):c.476_477delinsAG (p.Phe159Ter)
|
rs1838635262
|
|
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly)
|
rs1195682323
|
|
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg)
|
rs2132710676
|
|
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser)
|
rs776499844
|
|
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn)
|
rs1838636916
|
|
NM_020549.5(CHAT):c.512C>T (p.Ala171Val)
|
|
|
NM_020549.5(CHAT):c.516T>C (p.Pro172=)
|
|
|
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser)
|
|
|
NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)
|
rs1404321683
|
|
NM_020549.5(CHAT):c.525C>T (p.Leu175=)
|
|
|
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile)
|
|
|
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe)
|
rs746030420
|
|
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro)
|
|
|
NM_020549.5(CHAT):c.550C>T (p.Leu184=)
|
|
|
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln)
|
rs747996335
|
|
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro)
|
rs747996335
|
|
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)
|
|
|
NM_020549.5(CHAT):c.579+10G>C
|
|
|
NM_020549.5(CHAT):c.579+18G>T
|
|
|
NM_020549.5(CHAT):c.579+19G>A
|
|
|
NM_020549.5(CHAT):c.579+7G>A
|
|
|
NM_020549.5(CHAT):c.580-11dup
|
|
|
NM_020549.5(CHAT):c.580-16C>T
|
|
|
NM_020549.5(CHAT):c.580-17C>G
|
|
|
NM_020549.5(CHAT):c.580-5G>C
|
|
|
NM_020549.5(CHAT):c.580-8C>T
|
rs1590562931
|
|
NM_020549.5(CHAT):c.59_60del (p.Glu20fs)
|
rs531450737
|
|
NM_020549.5(CHAT):c.612C>T (p.Leu204=)
|
rs1488503830
|
|
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser)
|
rs2132712941
|
|
NM_020549.5(CHAT):c.619del (p.Arg207fs)
|
|
|
NM_020549.5(CHAT):c.621C>T (p.Arg207=)
|
|
|
NM_020549.5(CHAT):c.630G>T (p.Leu210=)
|
rs750447540
|
|
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala)
|
rs1378520155
|
|
NM_020549.5(CHAT):c.651C>G (p.Ala217=)
|
rs575515952
|
|
NM_020549.5(CHAT):c.654G>T (p.Val218=)
|
|
|
NM_020549.5(CHAT):c.657C>T (p.Ile219=)
|
|
|
NM_020549.5(CHAT):c.660T>C (p.Phe220=)
|
|
|
NM_020549.5(CHAT):c.662C>T (p.Ala221Val)
|
|
|
NM_020549.5(CHAT):c.665G>A (p.Arg222Gln)
|
rs8178989
|
|
NM_020549.5(CHAT):c.669del (p.Gln223fs)
|
rs1554802808
|
|
NM_020549.5(CHAT):c.681C>T (p.Gly227=)
|
|
|
NM_020549.5(CHAT):c.684C>T (p.Thr228=)
|
|
|
NM_020549.5(CHAT):c.693G>A (p.Gln231=)
|
|
|
NM_020549.5(CHAT):c.693G>C (p.Gln231His)
|
rs1838671242
|
|
NM_020549.5(CHAT):c.698+10T>C
|
|
|
NM_020549.5(CHAT):c.698+15C>G
|
|
|
NM_020549.5(CHAT):c.698+19T>A
|
|
|
NM_020549.5(CHAT):c.698+1G>A
|
|
|
NM_020549.5(CHAT):c.698+1G>T
|
|
|
NM_020549.5(CHAT):c.698+2T>C
|
|
|
NM_020549.5(CHAT):c.698+7C>T
|
rs1590563362
|
|
NM_020549.5(CHAT):c.699-14C>T
|
|
|
NM_020549.5(CHAT):c.699-18C>T
|
|
|
NM_020549.5(CHAT):c.699-4G>T
|
|
|
NM_020549.5(CHAT):c.699-6C>T
|
|
|
NM_020549.5(CHAT):c.699-9T>G
|
rs1207212526
|
|
NM_020549.5(CHAT):c.712C>G (p.Leu238Val)
|
|
|
NM_020549.5(CHAT):c.715A>G (p.Ile239Val)
|
|
|
NM_020549.5(CHAT):c.735C>T (p.Tyr245=)
|
|
|
NM_020549.5(CHAT):c.747G>A (p.Leu249=)
|
|
|
NM_020549.5(CHAT):c.747G>T (p.Leu249=)
|
|
|
NM_020549.5(CHAT):c.752+19T>C
|
|
|
NM_020549.5(CHAT):c.753-10T>C
|
|
|
NM_020549.5(CHAT):c.753-11C>T
|
|
|
NM_020549.5(CHAT):c.753-12C>T
|
|
|
NM_020549.5(CHAT):c.753-13T>C
|
|
|
NM_020549.5(CHAT):c.753-14C>T
|
|
|
NM_020549.5(CHAT):c.753-2A>T
|
|
|
NM_020549.5(CHAT):c.759C>T (p.Ser253=)
|
|
|
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu)
|
rs2132727930
|
|
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile)
|
rs754977595
|
|
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn)
|
rs1564475567
|
|
NM_020549.5(CHAT):c.771C>T (p.Asp257=)
|
|
|
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn)
|
rs2132727991
|
|
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser)
|
rs1838884383
|
|
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp)
|
rs2132728015
|
|
NM_020549.5(CHAT):c.787C>T (p.Leu263=)
|
|
|
NM_020549.5(CHAT):c.795G>A (p.Gly265=)
|
|
|
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu)
|
rs749662741
|
|
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe)
|
|
|
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys)
|
|
|
NM_020549.5(CHAT):c.819C>T (p.Tyr273=)
|
|
|
NM_020549.5(CHAT):c.822T>C (p.Tyr274=)
|
|
|
NM_020549.5(CHAT):c.825G>A (p.Gly275=)
|
|
|
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)
|
|
|
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del)
|
rs560648873
|
|
NM_020549.5(CHAT):c.834C>T (p.Ser278=)
|
rs775502083
|
|
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe)
|
|
|
NM_020549.5(CHAT):c.846C>T (p.Leu282=)
|
rs1213463622
|
|
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)
|
|
|
NM_020549.5(CHAT):c.84G>A (p.Arg28=)
|
|
|
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser)
|
|
|
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser)
|
rs1231575273
|
|
NM_020549.5(CHAT):c.85A>C (p.Arg29=)
|
rs772025588
|
|
NM_020549.5(CHAT):c.861G>A (p.Gln287=)
|
rs1590572872
|
|
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro)
|
|
|
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)
|
rs1838390973
|
|
NM_020549.5(CHAT):c.870G>A (p.Leu290=)
|
|
|
NM_020549.5(CHAT):c.873G>T (p.Val291=)
|
|
|
NM_020549.5(CHAT):c.880_884del (p.Asn294fs)
|
|
|
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly)
|
rs1473934667
|
|
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser)
|
|
|
NM_020549.5(CHAT):c.915C>T (p.Ile305=)
|
|
|
NM_020549.5(CHAT):c.916G>C (p.Val306Leu)
|
rs551219437
|
|
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly)
|
rs748250869
|
|
NM_020549.5(CHAT):c.92T>A (p.Val31Glu)
|
rs1016283273
|
|
NM_020549.5(CHAT):c.933+10C>A
|
|
|
NM_020549.5(CHAT):c.933+12C>T
|
|
|
NM_020549.5(CHAT):c.933+16T>C
|
|
|
NM_020549.5(CHAT):c.933+18T>C
|
|
|
NM_020549.5(CHAT):c.933+9C>A
|
|
|
NM_020549.5(CHAT):c.934-15C>T
|
|
|
NM_020549.5(CHAT):c.934-19T>G
|
|
|
NM_020549.5(CHAT):c.934-6C>T
|
|
|
NM_020549.5(CHAT):c.934-7C>T
|
|
|
NM_020549.5(CHAT):c.934-8C>T
|
|
|
NM_020549.5(CHAT):c.93G>T (p.Val31=)
|
|
|
NM_020549.5(CHAT):c.951del (p.Val318fs)
|
rs2132735050
|
|
NM_020549.5(CHAT):c.963C>T (p.Phe321=)
|
rs1838967996
|
|
NM_020549.5(CHAT):c.966C>T (p.Arg322=)
|
|
|
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys)
|
rs771938918
|
|
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly)
|
rs1838968738
|
|
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys)
|
rs906778274
|
|
NM_020549.5(CHAT):c.981G>A (p.Gly327=)
|
|
|
NM_020549.5(CHAT):c.981G>T (p.Gly327=)
|
|
|
NM_020549.5(CHAT):c.982del (p.Asp328fs)
|
rs1590576560
|
|
NM_020549.5(CHAT):c.984T>C (p.Asp328=)
|
|
|
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys)
|
rs2104379258
|
|
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
|
|
|
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr)
|
rs140481686
|
|
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=)
|
rs778941657
|
|
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly)
|
rs2104379374
|
|
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu)
|
rs762453964
|
|
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=)
|
rs761044523
|
|
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile)
|
rs2104379560
|
|
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)
|
rs1206415590
|
|
NM_021815.5(SLC5A7):c.1113+13del
|
rs2104379640
|
|
NM_021815.5(SLC5A7):c.1113+14C>A
|
|
|
NM_021815.5(SLC5A7):c.1113+14del
|
|
|
NM_021815.5(SLC5A7):c.1114-10T>C
|
|
|
NM_021815.5(SLC5A7):c.1114-13C>A
|
|
|
NM_021815.5(SLC5A7):c.1114-16_1114-15del
|
|
|
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
|
|
|
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys)
|
rs935822553
|
|
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
|
|
|
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
|
|
|
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile)
|
rs2104382635
|
|
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His)
|
rs1054170676
|
|
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
|
|
|
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu)
|
rs1678267305
|
|
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=)
|
rs2104382693
|
|
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
|
|
|
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
|
|
|
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
|
|
|
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr)
|
rs556748289
|
|
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
|
|
|
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser)
|
rs1558872383
|
|
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
|
|
|
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
|
|
|
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr)
|
rs1677323077
|
|
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
|
|
|
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=)
|
rs1334655911
|
|
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=)
|
rs557717267
|
|
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro)
|
rs2104383027
|
|
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=)
|
rs1553459987
|
|
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=)
|
rs1678273384
|
|
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro)
|
rs2104383051
|
|
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
|
|
|
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=)
|
rs1573618054
|
|
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys)
|
rs2104383095
|
|
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg)
|
rs2104383123
|
|
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=)
|
rs767552380
|
|
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu)
|
rs148535388
|
|
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe)
|
rs2104383202
|
|
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala)
|
rs1446985615
|
|
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
|
|
|
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His)
|
rs1678278823
|
|
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
|
|
|
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser)
|
rs145310206
|
|
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
|
|
|
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser)
|
rs1558872670
|
|
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
|
|
|
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
|
|
|
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn)
|
rs1678280904
|
|
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser)
|
rs1678281220
|
|
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
|
|
|
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
|
|
|
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys)
|
rs1323329132
|
|
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
|
|
|
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
|
|
|
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys)
|
rs1274120636
|
|
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
|
|
|
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
|
|
|
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=)
|
rs2104383662
|
|
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
|
|
|
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
|
|
|
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
|
|
|
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
|
|
|
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
|
|
|
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
|
|
|
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
|
|
|
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=)
|
rs2104383766
|
|
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
|
|
|
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
|
|
|
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
|
|
|
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
|
|
|
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
|
|
|
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile)
|
rs199693962
|
|
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=)
|
rs748269839
|
|
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
|
|
|
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=)
|
rs894241313
|
|
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
|
|
|
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala)
|
rs1558872967
|
|
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly)
|
rs776499560
|
|
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
|
|
|
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
|
|
|
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
|
|
|
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
|
|
|
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter)
|
rs1678292762
|
|
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser)
|
rs1678293099
|
|
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
|
|
|
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
|
|
|
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr)
|
rs1157492588
|
|
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=)
|
rs904369740
|
|
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
|
|
|
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
|
|
|
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
|
|
|
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=)
|
rs2104384314
|
|
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser)
|
rs1558873189
|
|
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
|
|
|
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser)
|
rs747026995
|
|
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
|
|
|
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=)
|
rs1678299598
|
|
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
|
|
|
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly)
|
rs776388070
|
|
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val)
|
rs1553460067
|
|
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala)
|
rs202227094
|
|
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr)
|
rs1573619033
|
|
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
|
|
|
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
|
|
|
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val)
|
rs1222691698
|
|
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=)
|
rs1678302888
|
|
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys)
|
rs763725923
|
|
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
|
|
|
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)
|
rs1553457528
|
|
NM_021815.5(SLC5A7):c.178+13G>A
|
|
|
NM_021815.5(SLC5A7):c.178+4C>G
|
|
|
NM_021815.5(SLC5A7):c.178+6T>C
|
rs1553457530
|
|
NM_021815.5(SLC5A7):c.179-2A>G
|
rs2104340311
|
|
NM_021815.5(SLC5A7):c.189C>T (p.Val63=)
|
rs1573591981
|
|
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)
|
rs886039765
|
|
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg)
|
rs753442687
|
|
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
|
|
|
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
|
|
|
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)
|
rs1573592052
|
|
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val)
|
rs1177599655
|
|
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)
|
rs1558859918
|
|
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
|
|
|
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr)
|
rs543338077
|
|
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)
|
rs60964124
|
|
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile)
|
rs1172822464
|
|
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
|
|
|
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
|
|
|
NM_021815.5(SLC5A7):c.292+11G>C
|
rs777715689
|
|
NM_021815.5(SLC5A7):c.292+1G>A
|
rs1677478183
|
|
NM_021815.5(SLC5A7):c.292+5G>C
|
|
|
NM_021815.5(SLC5A7):c.293-17A>T
|
|
|
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=)
|
rs2104342304
|
|
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
|
|
|
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser)
|
rs886039766
|
|
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
|
|
|
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
|
|
|
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=)
|
rs1573593406
|
|
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=)
|
rs368109143
|
|
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
|
|
|
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs)
|
rs2104342591
|
|
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
|
|
|
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val)
|
rs371931981
|
|
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
|
|
|
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile)
|
rs1336840043
|
|
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met)
|
rs1677319788
|
|
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=)
|
rs1553457998
|
|
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
|
|
|
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
|
|
|
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
|
|
|
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
|
|
|
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys)
|
rs1558860651
|
|
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr)
|
rs1558860658
|
|
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu)
|
rs1677517934
|
|
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=)
|
rs2104342884
|
|
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)
|
rs1558857378
|
|
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
|
|
|
NM_021815.5(SLC5A7):c.448+12C>T
|
rs775806807
|
|
NM_021815.5(SLC5A7):c.448+6G>A
|
|
|
NM_021815.5(SLC5A7):c.448+7A>G
|
|
|
NM_021815.5(SLC5A7):c.448+9C>T
|
rs759922183
|
|
NM_021815.5(SLC5A7):c.449-11G>A
|
|
|
NM_021815.5(SLC5A7):c.449-13_449-12del
|
|
|
NM_021815.5(SLC5A7):c.449-9_449-8del
|
|
|
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr)
|
rs1677727536
|
|
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
|
|
|
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
|
|
|
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
|
|
|
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val)
|
rs143876748
|
|
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
|
|
|
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
|
|
|
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
|
|
|
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser)
|
rs2104354270
|
|
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile)
|
rs746514670
|
|
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=)
|
rs780484840
|
|
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met)
|
rs2104354340
|
|
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=)
|
rs1027922396
|
|
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
|
|
|
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=)
|
rs574474443
|
|
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
|
|
|
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=)
|
rs1032544775
|
|
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
|
|
|
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu)
|
rs541031936
|
|
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
|
|
|
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
|
|
|
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val)
|
rs776668635
|
|
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
|
|
|
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
|
|
|
NM_021815.5(SLC5A7):c.597+14C>T
|
rs370808911
|
|
NM_021815.5(SLC5A7):c.598-12T>C
|
|
|
NM_021815.5(SLC5A7):c.598-18T>G
|
rs892853771
|
|
NM_021815.5(SLC5A7):c.598-7G>A
|
rs759555286
|
|
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
|
|
|
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
|
|
|
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
|
|
|
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
|
|
|
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr)
|
rs763744412
|
|
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
|
|
|
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=)
|
rs1573607048
|
|
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
|
|
|
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val)
|
rs2104364447
|
|
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln)
|
rs2104364491
|
|
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser)
|
rs1035258430
|
|
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg)
|
rs1677927136
|
|
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala)
|
rs1677928025
|
|
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
|
|
|
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
|
|
|
NM_021815.5(SLC5A7):c.741+11C>T
|
|
|
NM_021815.5(SLC5A7):c.741+8A>C
|
|
|
NM_021815.5(SLC5A7):c.742-10T>C
|
rs2104373298
|
|
NM_021815.5(SLC5A7):c.742-15G>A
|
|
|
NM_021815.5(SLC5A7):c.742-17T>C
|
|
|
NM_021815.5(SLC5A7):c.742-3C>T
|
rs995989817
|
|
NM_021815.5(SLC5A7):c.742-5C>T
|
rs1287734210
|
|
NM_021815.5(SLC5A7):c.742-6G>T
|
|
|
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
|
|
|
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=)
|
rs2104373334
|
|
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val)
|
rs2104332660
|
|
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=)
|
rs372145153
|
|
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
|
|
|
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
|
|
|
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met)
|
rs1678107773
|
|
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys)
|
rs1259002559
|
|
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
|
|
|
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val)
|
rs761583647
|
|
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
|
|
|
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala)
|
rs772699592
|
|
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter)
|
rs1677321281
|
|
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro)
|
rs2104373588
|
|
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
|
|
|
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
|
|
|
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr)
|
rs2104373775
|
|
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val)
|
rs1553459529
|
|
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
|
|
|
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
|
|
|
NM_021815.5(SLC5A7):c.895+12G>A
|
|
|
NM_021815.5(SLC5A7):c.895+17T>C
|
|
|
NM_021815.5(SLC5A7):c.895+1G>C
|
rs1678115852
|
|
NM_021815.5(SLC5A7):c.895+20A>G
|
|
|
NM_021815.5(SLC5A7):c.895+4A>G
|
|
|
NM_021815.5(SLC5A7):c.896-13T>C
|
|
|
NM_021815.5(SLC5A7):c.896-17T>C
|
|
|
NM_021815.5(SLC5A7):c.896-18G>T
|
|
|
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
|
|
|
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=)
|
rs2104379044
|
|
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
|
|
|
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
|
|
|
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln)
|
rs1307429820
|
|
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=)
|
rs778842636
|
|
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr)
|
rs1678201892
|
|
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val)
|
rs1678202004
|
|
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
|
|
|
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
|
|
|
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
|
|
|
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=)
|
rs1011037891
|
|
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
|
|
|
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
|
|
|
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)
|
rs2118998218
|
|
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)
|
rs2118998170
|
|
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
|
rs1588618702
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_033087.4(ALG2):c.1047C>T (p.Pro349=)
|
rs1588618685
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
|
|
|
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
|
|
|
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
|
|
|
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
|
|
|
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
|
|
|
NM_033087.4(ALG2):c.1110A>C (p.Ser370=)
|
rs369062018
|
|
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
|
|
|
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
|
|
|
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
|
|
|
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)
|
rs1828724423
|
|
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)
|
rs1340353164
|
|
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)
|
rs2118997596
|
|
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
|
|
|
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
|
|
|
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
|
|
|
NM_033087.4(ALG2):c.1191A>G (p.Lys397=)
|
rs2118997478
|
|
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)
|
rs372356780
|
|
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
|
|
|
NM_033087.4(ALG2):c.1248A>G (p.Val416=)
|
rs1828721761
|
|
NM_033087.4(ALG2):c.132del (p.Cys45fs)
|
|
|
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
|
|
|
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
|
|
|
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)
|
rs759980920
|
|
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
|
|
|
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
|
|
|
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)
|
rs748281785
|
|
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)
|
rs773062290
|
|
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
|
|
|
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)
|
rs753517894
|
|
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)
|
rs180849348
|
|
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)
|
rs777441526
|
|
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
|
rs1588620643
|
|
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
|
|
|
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
|
|
|
NM_033087.4(ALG2):c.196C>T (p.Leu66=)
|
rs763273127
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
|
rs551744220
|
|
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
|
|
|
NM_033087.4(ALG2):c.213C>G (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.213C>T (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)
|
rs745813432
|
|
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)
|
rs770738799
|
|
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
|
|
|
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)
|
rs375634924
|
|
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
|
|
|
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
|
|
|
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)
|
rs1564222174
|
|
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
|
|
|
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
|
|
|
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)
|
rs1050763044
|
|
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)
|
rs759891618
|
|
NM_033087.4(ALG2):c.258C>T (p.Ala86=)
|
rs1057521308
|
|
NM_033087.4(ALG2):c.264C>G (p.Val88=)
|
rs1015050313
|
|
NM_033087.4(ALG2):c.264C>T (p.Val88=)
|
|
|
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
|
|
|
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
|
|
|
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)
|
rs769169852
|
|
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
|
|
|
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
|
|
|
NM_033087.4(ALG2):c.308del (p.Phe103fs)
|
|
|
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
|
|
|
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
|
rs747781559
|
|
NM_033087.4(ALG2):c.315C>T (p.Ala105=)
|
rs1588620487
|
|
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
|
|
|
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
|
|
|
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
|
|
|
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
|
|
|
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)
|
rs2119008980
|
|
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
|
|
|
NM_033087.4(ALG2):c.339G>A (p.Val113=)
|
rs1554708016
|
|
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)
|
rs2119007195
|
|
NM_033087.4(ALG2):c.348+10C>A
|
|
|
NM_033087.4(ALG2):c.348+10C>T
|
|
|
NM_033087.4(ALG2):c.348+14G>A
|
rs2119007123
|
|
NM_033087.4(ALG2):c.348+18C>T
|
|
|
NM_033087.4(ALG2):c.348+20G>A
|
|
|
NM_033087.4(ALG2):c.348+7C>T
|
|
|
NM_033087.4(ALG2):c.348+8G>C
|
rs1230090169
|
|
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
|
|
|
NM_033087.4(ALG2):c.351G>T (p.Val117=)
|
|
|
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
|
|
|
NM_033087.4(ALG2):c.367G>A (p.Val123Met)
|
rs1828745406
|
|
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
|
|
|
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
|
|
|
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
|
|
|
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
|
|
|
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)
|
rs1828743411
|
|
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
|
rs1350412580
|
|
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)
|
rs757920586
|
|
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
|
|
|
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
|
|
|
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)
|
rs1486842886
|
|
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)
|
rs1588619067
|
|
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)
|
rs779723777
|
|
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)
|
rs1828741342
|
|
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)
|
rs1372608210
|
|
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
|
|
|
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
|
|
|
NM_033087.4(ALG2):c.578A>G (p.His193Arg)
|
rs749336918
|
|
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
|
|
|
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
|
|
|
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)
|
rs201271253
|
|
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
|
|
|
NM_033087.4(ALG2):c.627C>T (p.Asp209=)
|
rs1187766399
|
|
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)
|
rs745635377
|
|
NM_033087.4(ALG2):c.660C>A (p.Val220=)
|
|
|
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
|
|
|
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
|
|
|
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)
|
rs1828737709
|
|
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
|
rs866855594
|
|
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.686T>A (p.Leu229His)
|
rs1828737491
|
|
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
|
|
|
NM_033087.4(ALG2):c.69C>T (p.Asp23=)
|
rs764985375
|
|
NM_033087.4(ALG2):c.717T>C (p.Asn239=)
|
rs1588618893
|
|
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
|
|
|
NM_033087.4(ALG2):c.729A>T (p.Ala243=)
|
rs748947069
|
|
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)
|
rs777262456
|
|
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
|
|
|
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
|
|
|
NM_033087.4(ALG2):c.75C>G (p.Gly25=)
|
rs1410757499
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>A (p.Ile265=)
|
rs183416022
|
|
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)
|
rs183416022
|
|
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
|
|
|
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
|
|
|
NM_033087.4(ALG2):c.839A>G (p.His280Arg)
|
rs2118998777
|
|
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
|
|
|
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
|
|
|
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)
|
rs775204090
|
|
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
|
|
|
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
|
|
|
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
|
|
|
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
|
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
|
rs1828729293
|
|
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
|
|
|
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
|
|
|
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)
|
rs1828728819
|
|
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)
|
rs2118998416
|
|
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
|
|
|
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
|
|
|
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
|
|
|
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
|
|
|
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
|
rs774607653
|
|
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
|
|
|
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
|
|
|
NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)
|
|
|
NM_130811.4(SNAP25):c.105G>A (p.Leu35=)
|
|
|
NM_130811.4(SNAP25):c.114+18T>C
|
rs200107809
|
|
NM_130811.4(SNAP25):c.114+3A>C
|
|
|
NM_130811.4(SNAP25):c.114+8G>A
|
rs2123019457
|
|
NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp)
|
rs763997141
|
|
NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly)
|
rs11547861
|
|
NM_130811.4(SNAP25):c.12C>T (p.Asp4=)
|
rs769285280
|
|
NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro)
|
rs2063842678
|
|
NM_130811.4(SNAP25):c.141G>A (p.Leu47=)
|
rs2123063889
|
|
NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle)
|
rs2063842805
|
|
NM_130811.4(SNAP25):c.163+12T>C
|
|
|
NM_130811.4(SNAP25):c.163+20G>A
|
rs1457848355
|
|
NM_130811.4(SNAP25):c.164-10G>T
|
rs370270068
|
|
NM_130811.4(SNAP25):c.164-8T>A
|
|
|
NM_130811.4(SNAP25):c.165A>G (p.Glu55=)
|
rs2123120164
|
|
NM_130811.4(SNAP25):c.176G>A (p.Arg59His)
|
|
|
NM_130811.4(SNAP25):c.180T>C (p.Ile60=)
|
rs2123120284
|
|
NM_130811.4(SNAP25):c.183G>A (p.Glu61=)
|
rs2123120317
|
|
NM_130811.4(SNAP25):c.186A>G (p.Glu62=)
|
rs2123120338
|
|
NM_130811.4(SNAP25):c.189G>A (p.Gly63=)
|
rs1051267
|
|
NM_130811.4(SNAP25):c.219A>G (p.Glu73=)
|
|
|
NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)
|
|
|
NM_130811.4(SNAP25):c.25A>C (p.Asn9His)
|
rs2063677130
|
|
NM_130811.4(SNAP25):c.26A>G (p.Asn9Ser)
|
rs1364361088
|
|
NM_130811.4(SNAP25):c.27T>C (p.Asn9=)
|
|
|
NM_130811.4(SNAP25):c.281+13T>A
|
|
|
NM_130811.4(SNAP25):c.281+17T>C
|
|
|
NM_130811.4(SNAP25):c.281+18G>C
|
|
|
NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg)
|
rs2123120986
|
|
NM_130811.4(SNAP25):c.282-11C>G
|
|
|
NM_130811.4(SNAP25):c.282-15C>G
|
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|
NM_130811.4(SNAP25):c.282-20T>G
|
|
|
NM_130811.4(SNAP25):c.292A>G (p.Ser98Gly)
|
|
|
NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)
|
|
|
NM_130811.4(SNAP25):c.333A>G (p.Gly111=)
|
|
|
NM_130811.4(SNAP25):c.345C>T (p.Ser115=)
|
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|
NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)
|
|
|
NM_130811.4(SNAP25):c.363G>A (p.Val121=)
|
|
|
NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)
|
|
|
NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg)
|
rs2064127610
|
|
NM_130811.4(SNAP25):c.378G>A (p.Gln126=)
|
rs2123143693
|
|
NM_130811.4(SNAP25):c.393C>A (p.Gly131=)
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|
|
NM_130811.4(SNAP25):c.393C>G (p.Gly131=)
|
rs761144395
|
|
NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)
|
|
|
NM_130811.4(SNAP25):c.405C>T (p.Arg135=)
|
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|
NM_130811.4(SNAP25):c.407+11T>A
|
rs2123144086
|
|
NM_130811.4(SNAP25):c.407+11T>C
|
rs2123144086
|
|
NM_130811.4(SNAP25):c.407+3G>A
|
rs1871070779
|
|
NM_130811.4(SNAP25):c.407+5_407+19dup
|
rs2123144027
|
|
NM_130811.4(SNAP25):c.408-11T>G
|
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|
NM_130811.4(SNAP25):c.408-14T>C
|
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|
NM_130811.4(SNAP25):c.408-18T>G
|
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|
NM_130811.4(SNAP25):c.408-19C>T
|
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|
NM_130811.4(SNAP25):c.408-8G>A
|
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|
NM_130811.4(SNAP25):c.408-9G>T
|
|
|
NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter)
|
rs1235064890
|
|
NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln)
|
rs2064181232
|
|
NM_130811.4(SNAP25):c.426A>G (p.Arg142=)
|
rs2123158690
|
|
NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)
|
|
|
NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)
|
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|
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
|
|
|
NM_130811.4(SNAP25):c.471C>A (p.Ile157=)
|
rs777212434
|
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NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)
|
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|
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln)
|
rs760339630
|
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NM_130811.4(SNAP25):c.487A>G (p.Met163Val)
|
rs2123159174
|
|
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
|
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|
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
|
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NM_130811.4(SNAP25):c.493C>T (p.Leu165=)
|
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|
NM_130811.4(SNAP25):c.495G>A (p.Leu165=)
|
rs2064182455
|
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NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)
|
rs769950821
|
|
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp)
|
rs1600791112
|
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NM_130811.4(SNAP25):c.503G>T (p.Gly168Val)
|
rs1600791112
|
|
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
|
|
|
NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)
|
|
|
NM_130811.4(SNAP25):c.513C>A (p.Ile171=)
|
rs372122045
|
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NM_130811.4(SNAP25):c.516T>C (p.Asp172=)
|
|
|
NM_130811.4(SNAP25):c.51G>A (p.Arg17=)
|
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|
NM_130811.4(SNAP25):c.528C>T (p.Arg176=)
|
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|
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
|
|
|
NM_130811.4(SNAP25):c.552+12G>T
|
|
|
NM_130811.4(SNAP25):c.552+6C>T
|
rs2123159776
|
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NM_130811.4(SNAP25):c.553-12C>T
|
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|
NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)
|
|
|
NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)
|
|
|
NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile)
|
rs2064354640
|
|
NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)
|
|
|
NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del)
|
rs2123003652
|
|
NM_130811.4(SNAP25):c.591A>C (p.Gln197His)
|
rs2064355285
|
|
NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)
|
|
|
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
|
rs2064355563
|
|
NM_130811.4(SNAP25):c.594T>C (p.Arg198=)
|
rs2123205294
|
|
NM_130811.4(SNAP25):c.60G>A (p.Gln20=)
|
|
|
NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)
|
|
|
NM_130811.4(SNAP25):c.61T>C (p.Leu21=)
|
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|
NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu)
|
rs1278243837
|
|
NM_130811.4(SNAP25):c.72+11GA[3]
|
rs758885481
|
|
NM_130811.4(SNAP25):c.72+7A>C
|
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|
NM_130811.4(SNAP25):c.73-12T>C
|
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|
NM_130811.4(SNAP25):c.73-16del
|
|
|
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
|
|
|
NM_130811.4(SNAP25):c.75G>A (p.Ser25=)
|
rs147866099
|
|
NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)
|
|
|
NM_130811.4(SNAP25):c.93T>A (p.Arg31=)
|
rs2123019204
|
|
NM_144988.4(ALG14):c.111C>T (p.Leu37=)
|
rs1035901315
|
|
NM_144988.4(ALG14):c.113G>A (p.Ser38Asn)
|
rs139521179
|
|
NM_144988.4(ALG14):c.127G>C (p.Ala43Pro)
|
|
|
NM_144988.4(ALG14):c.132G>A (p.Gly44=)
|
|
|
NM_144988.4(ALG14):c.136+10G>A
|
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|
NM_144988.4(ALG14):c.136+10G>C
|
rs771775941
|
|
NM_144988.4(ALG14):c.136+17C>A
|
rs2100856342
|
|
NM_144988.4(ALG14):c.136+18G>T
|
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|
NM_144988.4(ALG14):c.137-15T>C
|
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|
NM_144988.4(ALG14):c.137-8T>C
|
|
|
NM_144988.4(ALG14):c.138T>C (p.Gly46=)
|
|
|
NM_144988.4(ALG14):c.165G>A (p.Leu55=)
|
|
|
NM_144988.4(ALG14):c.190T>C (p.Ser64Pro)
|
|
|
NM_144988.4(ALG14):c.199C>T (p.His67Tyr)
|
|
|
NM_144988.4(ALG14):c.203A>G (p.Tyr68Cys)
|
|
|
NM_144988.4(ALG14):c.20T>C (p.Leu7Pro)
|
|
|
NM_144988.4(ALG14):c.210T>G (p.Ile70Met)
|
|
|
NM_144988.4(ALG14):c.21A>G (p.Leu7=)
|
rs1218214553
|
|
NM_144988.4(ALG14):c.234C>A (p.Ala78=)
|
|
|
NM_144988.4(ALG14):c.245A>G (p.Asn82Ser)
|
rs1192311417
|
|
NM_144988.4(ALG14):c.24T>A (p.Ala8=)
|
|
|
NM_144988.4(ALG14):c.262C>A (p.Arg88=)
|
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NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)
|
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|
NM_144988.4(ALG14):c.288+18_288+23del
|
|
|
NM_144988.4(ALG14):c.288+4A>G
|
rs2100841130
|
|
NM_144988.4(ALG14):c.288+9C>T
|
|
|
NM_144988.4(ALG14):c.288G>T (p.Met96Ile)
|
|
|
NM_144988.4(ALG14):c.289-2A>G
|
rs1673851343
|
|
NM_144988.4(ALG14):c.289-4C>T
|
rs767492224
|
|
NM_144988.4(ALG14):c.313A>G (p.Ile105Val)
|
|
|
NM_144988.4(ALG14):c.323G>A (p.Ser108Asn)
|
rs1673848834
|
|
NM_144988.4(ALG14):c.337C>G (p.Gln113Glu)
|
rs1204743597
|
|
NM_144988.4(ALG14):c.342_344del (p.Trp115del)
|
rs1210554241
|
|
NM_144988.4(ALG14):c.393C>T (p.Pro131=)
|
rs2100771798
|
|
NM_144988.4(ALG14):c.396A>G (p.Leu132=)
|
rs2100771768
|
|
NM_144988.4(ALG14):c.401A>C (p.His134Pro)
|
|
|
NM_144988.4(ALG14):c.402C>A (p.His134Gln)
|
|
|
NM_144988.4(ALG14):c.420+14T>C
|
|
|
NM_144988.4(ALG14):c.420+15C>G
|
|
|
NM_144988.4(ALG14):c.420+17C>T
|
|
|
NM_144988.4(ALG14):c.420+19A>G
|
|
|
NM_144988.4(ALG14):c.420+1G>A
|
|
|
NM_144988.4(ALG14):c.420+5G>A
|
rs1571621391
|
|
NM_144988.4(ALG14):c.420+6_420+9del
|
rs1673843345
|
|
NM_144988.4(ALG14):c.423G>A (p.Val141=)
|
|
|
NM_144988.4(ALG14):c.451C>T (p.Pro151Ser)
|
rs2100709244
|
|
NM_144988.4(ALG14):c.464C>T (p.Ser155Phe)
|
rs2100709222
|
|
NM_144988.4(ALG14):c.474C>T (p.Leu158=)
|
|
|
NM_144988.4(ALG14):c.478G>A (p.Gly160Arg)
|
|
|
NM_144988.4(ALG14):c.503T>G (p.Ile168Ser)
|
rs1431105428
|
|
NM_144988.4(ALG14):c.517G>T (p.Glu173Ter)
|
|
|
NM_144988.4(ALG14):c.529C>A (p.Arg177Ser)
|
rs1279524858
|
|
NM_144988.4(ALG14):c.531T>G (p.Arg177=)
|
|
|
NM_144988.4(ALG14):c.533T>G (p.Val178Gly)
|
rs766184799
|
|
NM_144988.4(ALG14):c.549G>C (p.Met183Ile)
|
|
|
NM_144988.4(ALG14):c.551C>G (p.Ser184Cys)
|
rs2100709015
|
|
NM_144988.4(ALG14):c.599C>T (p.Pro200Leu)
|
rs1014644772
|
|
NM_144988.4(ALG14):c.600G>A (p.Pro200=)
|
|
|
NM_144988.4(ALG14):c.619C>T (p.Pro207Ser)
|
|
|
NM_144988.4(ALG14):c.621C>T (p.Pro207=)
|
|
|
NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)
|
|
|
NM_144988.4(ALG14):c.633C>T (p.Tyr211=)
|
|
|
NM_144988.4(ALG14):c.66A>G (p.Ile22Met)
|
rs1309034063
|
|
NM_144988.4(ALG14):c.6G>A (p.Val2=)
|
|
|
NM_144988.4(ALG14):c.80G>T (p.Arg27Leu)
|
rs1267285963
|
|
NM_144988.4(ALG14):c.82T>C (p.Ser28Pro)
|
|
|
NM_144988.4(ALG14):c.86T>C (p.Met29Thr)
|
rs1156822888
|
|
NM_173660.5(DOK7):c.100+11C>G
|
|
|
NM_173660.5(DOK7):c.100+11C>T
|
|
|
NM_173660.5(DOK7):c.100+12G>A
|
|
|
NM_173660.5(DOK7):c.100+14G>C
|
|
|
NM_173660.5(DOK7):c.100+15C>A
|
|
|
NM_173660.5(DOK7):c.100+17G>A
|
|
|
NM_173660.5(DOK7):c.100+21_100+36del
|
|
|
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn)
|
rs1467473001
|
|
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
|
|
|
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
|
|
|
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn)
|
rs2109418165
|
|
NM_173660.5(DOK7):c.101-12C>T
|
|
|
NM_173660.5(DOK7):c.101-15C>T
|
|
|
NM_173660.5(DOK7):c.101-17G>A
|
|
|
NM_173660.5(DOK7):c.101-18C>T
|
|
|
NM_173660.5(DOK7):c.101-20G>A
|
|
|
NM_173660.5(DOK7):c.101-8C>G
|
|
|
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala)
|
rs1728608485
|
|
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
|
|
|
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
|
|
|
NM_173660.5(DOK7):c.1026T>G (p.Thr342=)
|
rs1437244628
|
|
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly)
|
rs2109418322
|
|
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
|
|
|
NM_173660.5(DOK7):c.1034A>G (p.His345Arg)
|
rs1577182623
|
|
NM_173660.5(DOK7):c.1035C>T (p.His345=)
|
|
|
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys)
|
rs568530359
|
|
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
|
|
|
NM_173660.5(DOK7):c.1040_1041del (p.Ser347fs)
|
|
|
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
|
|
|
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn)
|
rs1728615373
|
|
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg)
|
rs2109418499
|
|
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val)
|
rs1037224921
|
|
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
|
|
|
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
|
|
|
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
|
|
|
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val)
|
rs368512847
|
|
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
|
|
|
NM_173660.5(DOK7):c.1068G>T (p.Ala356=)
|
rs372407972
|
|
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs)
|
rs1560232833
|
|
NM_173660.5(DOK7):c.1080G>T (p.Leu360=)
|
rs2109418743
|
|
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
|
|
|
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu)
|
rs763666945
|
|
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu)
|
rs201304841
|
|
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala)
|
rs1728624628
|
|
NM_173660.5(DOK7):c.111G>A (p.Leu37=)
|
rs2109335875
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
|
|
|
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
|
|
|
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
|
|
|
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
|
|
|
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
|
|
|
NM_173660.5(DOK7):c.1138dup (p.Ala380fs)
|
rs761899995
|
|
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val)
|
rs766061571
|
|
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
|
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1143dup (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala)
|
rs1728631866
|
|
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
|
|
|
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
|
|
|
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
|
|
|
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn)
|
rs1728632467
|
|
NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)
|
|
|
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro)
|
rs1728632885
|
|
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
|
|
|
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
|
|
|
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
|
|
|
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)
|
rs149525610
|
|
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
|
|
|
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu)
|
rs753513427
|
|
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
|
|
|
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
|
|
|
NM_173660.5(DOK7):c.1179C>G (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.1179C>T (p.Val393=)
|
rs138797230
|
|
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
|
|
|
NM_173660.5(DOK7):c.1188G>A (p.Gln396=)
|
rs1577183241
|
|
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
|
|
|
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
|
|
|
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
|
|
|
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro)
|
rs370039804
|
|
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
|
|
|
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
|
|
|
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
|
|
|
NM_173660.5(DOK7):c.1215T>G (p.Tyr405Ter)
|
rs544278158
|
|
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
|
|
|
NM_173660.5(DOK7):c.1227C>A (p.Arg409=)
|
rs762828158
|
|
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg)
|
rs547633164
|
|
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
|
|
|
NM_173660.5(DOK7):c.1236C>A (p.Cys412Ter)
|
|
|
NM_173660.5(DOK7):c.1236C>T (p.Cys412=)
|
rs556834250
|
|
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
|
|
|
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
|
|
|
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
|
|
|
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
|
|
|
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg)
|
rs2109420373
|
|
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
|
|
|
NM_173660.5(DOK7):c.1257_1269del (p.Ser419fs)
|
|
|
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser)
|
rs150497723
|
|
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
|
|
|
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
|
|
|
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
|
|
|
NM_173660.5(DOK7):c.1263C>A (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
|
|
|
NM_173660.5(DOK7):c.1263C>T (p.Pro421=)
|
rs761693255
|
|
NM_173660.5(DOK7):c.1263del (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.1264del (p.Ser422fs)
|
rs1258346283
|
|
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter)
|
rs1728650830
|
|
NM_173660.5(DOK7):c.1269G>A (p.Gln423=)
|
rs1247286969
|
|
NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)
|
|
|
NM_173660.5(DOK7):c.1272C>T (p.Gly424=)
|
rs1728651445
|
|
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
|
|
|
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
|
|
|
NM_173660.5(DOK7):c.1278C>G (p.Pro426=)
|
rs139468087
|
|
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg)
|
rs377555406
|
|
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
|
|
|
NM_173660.5(DOK7):c.1287T>C (p.Ser429=)
|
rs1255756275
|
|
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
|
|
|
NM_173660.5(DOK7):c.1296G>A (p.Arg432=)
|
rs1288310207
|
|
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs)
|
rs778172294
|
|
NM_173660.5(DOK7):c.1296_1311dup (p.Thr438fs)
|
|
|
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
|
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1305C>G (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1305C>T (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg)
|
rs201392182
|
|
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp)
|
rs1458938692
|
|
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
|
|
|
NM_173660.5(DOK7):c.1310_1320del (p.Gln437fs)
|
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met)
|
rs376805794
|
|
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
|
|
|
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser)
|
rs753026831
|
|
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg)
|
rs778266118
|
|
NM_173660.5(DOK7):c.1323G>A (p.Gly441=)
|
rs755615582
|
|
NM_173660.5(DOK7):c.1323del (p.Cys442fs)
|
rs1210035894
|
|
NM_173660.5(DOK7):c.1323dup (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1324_1357del (p.Cys442fs)
|
|
|
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser)
|
rs748946433
|
|
NM_173660.5(DOK7):c.1329C>G (p.Pro443=)
|
rs768213796
|
|
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
|
|
|
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
|
|
|
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
|
|
|
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
|
|
|
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs)
|
rs606231131
|
|
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del)
|
rs779508279
|
|
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
|
|
|
NM_173660.5(DOK7):c.1348del (p.Arg450fs)
|
|
|
NM_173660.5(DOK7):c.1356G>C (p.Arg452=)
|
rs1728663876
|
|
NM_173660.5(DOK7):c.1358dup (p.Leu454fs)
|
rs775544277
|
|
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
|
|
|
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
|
|
|
NM_173660.5(DOK7):c.1361_1374del (p.Leu454fs)
|
|
|
NM_173660.5(DOK7):c.1363G>A (p.Val455Met)
|
rs765823074
|
|
NM_173660.5(DOK7):c.1367dup (p.Met456fs)
|
|
|
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle)
|
rs1728665309
|
|
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp)
|
rs1455617490
|
|
NM_173660.5(DOK7):c.1372dup (p.Ala458fs)
|
|
|
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
|
|
|
NM_173660.5(DOK7):c.1378C>T (p.Gln460Ter)
|
|
|
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
|
|
|
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)
|
rs606231133
|
|
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
|
|
|
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln)
|
rs745941308
|
|
NM_173660.5(DOK7):c.1387G>T (p.Glu463Ter)
|
rs745941308
|
|
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp)
|
rs1577148448
|
|
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
|
|
|
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
|
|
|
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys)
|
rs781665230
|
|
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
|
|
|
NM_173660.5(DOK7):c.1408_1412dup (p.Gly472fs)
|
rs1728671600
|
|
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
|
|
|
NM_173660.5(DOK7):c.1416C>T (p.Gly472=)
|
rs769793776
|
|
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
|
|
|
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
|
|
|
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp)
|
rs2109422552
|
|
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg)
|
rs140519765
|
|
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
|
|
|
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
|
|
|
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val)
|
rs767980190
|
|
NM_173660.5(DOK7):c.1457del (p.Pro486fs)
|
rs1577184455
|
|
NM_173660.5(DOK7):c.1458G>T (p.Pro486=)
|
rs763843300
|
|
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro)
|
rs751342277
|
|
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
|
|
|
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp)
|
rs77513082
|
|
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
|
|
|
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
|
|
|
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp)
|
rs768805841
|
|
NM_173660.5(DOK7):c.1476_1485dup (p.Gly496fs)
|
rs797045040
|
|
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
|
|
|
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
|
|
|
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val)
|
rs373205256
|
|
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg)
|
rs751223916
|
|
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
|
|
|
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn)
|
rs1560234858
|
|
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile)
|
rs1041024260
|
|
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
|
|
|
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser)
|
rs779975668
|
|
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
|
|
|
NM_173660.5(DOK7):c.1508dup (p.Pro504fs)
|
rs773220689
|
|
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr)
|
rs1560234920
|
|
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
|
|
|
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp)
|
rs1553850437
|
|
NM_173660.5(DOK7):c.159G>A (p.Glu53=)
|
rs1008787863
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu)
|
rs201818140
|
|
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)
|
rs550137245
|
|
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys)
|
rs550137245
|
|
NM_173660.5(DOK7):c.168C>T (p.Ser56=)
|
rs2109336068
|
|
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
|
|
|
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
|
|
|
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
|
|
|
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
|
|
|
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
|
|
|
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
|
|
|
NM_173660.5(DOK7):c.190G>C (p.Gly64Arg)
|
|
|
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
|
|
|
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe)
|
rs771583740
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys)
|
rs940346413
|
|
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
|
|
|
NM_173660.5(DOK7):c.230C>T (p.Thr77Met)
|
rs940346413
|
|
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
|
|
|
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
|
|
|
NM_173660.5(DOK7):c.241G>C (p.Val81Leu)
|
rs763046127
|
|
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
|
|
|
NM_173660.5(DOK7):c.264G>T (p.Met88Ile)
|
rs1244768842
|
|
NM_173660.5(DOK7):c.27C>A (p.Gly9=)
|
rs768798756
|
|
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
|
|
|
NM_173660.5(DOK7):c.288C>T (p.Ala96=)
|
rs890259305
|
|
NM_173660.5(DOK7):c.289A>G (p.Met97Val)
|
rs2109336403
|
|
NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)
|
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser)
|
rs1726898976
|
|
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
|
|
|
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
|
|
|
NM_173660.5(DOK7):c.298dup (p.Trp100fs)
|
|
|
NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)
|
rs2109336441
|
|
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
|
|
|
NM_173660.5(DOK7):c.30G>A (p.Gln10=)
|
rs1341926638
|
|
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
|
|
|
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
|
|
|
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
|
|
|
NM_173660.5(DOK7):c.331+10G>A
|
|
|
NM_173660.5(DOK7):c.331+11GGGGCC[3]
|
rs745546967
|
|
NM_173660.5(DOK7):c.331+14G>T
|
|
|
NM_173660.5(DOK7):c.331+15C>G
|
|
|
NM_173660.5(DOK7):c.331+15_331+16del
|
|
|
NM_173660.5(DOK7):c.331+17G>A
|
|
|
NM_173660.5(DOK7):c.331+18G>A
|
|
|
NM_173660.5(DOK7):c.331+20_331+25del
|
|
|
NM_173660.5(DOK7):c.331+4_331+5del
|
rs2109336551
|
|
NM_173660.5(DOK7):c.331+7G>A
|
|
|
NM_173660.5(DOK7):c.332-107_332-4del
|
rs1727060359
|
|
NM_173660.5(DOK7):c.332-12G>A
|
|
|
NM_173660.5(DOK7):c.332-12G>C
|
|
|
NM_173660.5(DOK7):c.332-15C>T
|
|
|
NM_173660.5(DOK7):c.332-17G>A
|
|
|
NM_173660.5(DOK7):c.332-18T>A
|
|
|
NM_173660.5(DOK7):c.332-1G>A
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-1G>C
|
|
|
NM_173660.5(DOK7):c.332-1G>T
|
rs1490214819
|
|
NM_173660.5(DOK7):c.332-2A>G
|
|
|
NM_173660.5(DOK7):c.332-4G>C
|
|
|
NM_173660.5(DOK7):c.332-7C>A
|
|
|
NM_173660.5(DOK7):c.332-95_332-18del
|
|
|
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
|
|
|
NM_173660.5(DOK7):c.333G>A (p.Val111=)
|
rs1197491516
|
|
NM_173660.5(DOK7):c.336T>C (p.His112=)
|
|
|
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
|
|
|
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr)
|
rs951094929
|
|
NM_173660.5(DOK7):c.363C>T (p.Gly121=)
|
rs1427150506
|
|
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
|
|
|
NM_173660.5(DOK7):c.366C>G (p.Thr122=)
|
rs1365607498
|
|
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
|
|
|
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
|
|
|
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
|
|
|
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
|
|
|
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
|
|
|
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
|
|
|
NM_173660.5(DOK7):c.394C>A (p.His132Asn)
|
rs755692930
|
|
NM_173660.5(DOK7):c.396C>G (p.His132Gln)
|
rs779798129
|
|
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
|
|
|
NM_173660.5(DOK7):c.399C>T (p.Leu133=)
|
rs2109343497
|
|
NM_173660.5(DOK7):c.411C>A (p.Val137=)
|
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.415G>C (p.Val139Leu)
|
rs571769859
|
|
NM_173660.5(DOK7):c.429del (p.Asp143fs)
|
|
|
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
|
|
|
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
|
|
|
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
|
|
|
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
|
|
|
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn)
|
rs1726072530
|
|
NM_173660.5(DOK7):c.440C>T (p.Ala147Val)
|
rs1560212754
|
|
NM_173660.5(DOK7):c.442G>T (p.Val148Phe)
|
rs2109343658
|
|
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala)
|
rs759723884
|
|
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
|
|
|
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
|
|
|
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
|
|
|
NM_173660.5(DOK7):c.457A>T (p.Lys153Ter)
|
rs1727096342
|
|
NM_173660.5(DOK7):c.45C>T (p.Asp15=)
|
rs759054772
|
|
NM_173660.5(DOK7):c.463_466del (p.Ser155fs)
|
|
|
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
|
|
|
NM_173660.5(DOK7):c.469C>G (p.Leu157Val)
|
rs1727097545
|
|
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
|
|
|
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg)
|
rs764824461
|
|
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
|
|
|
NM_173660.5(DOK7):c.473G>A (p.Arg158Gln)
|
|
|
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter)
|
rs550024569
|
|
NM_173660.5(DOK7):c.487G>A (p.Val163Met)
|
rs746946329
|
|
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
|
|
|
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
|
|
|
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly)
|
rs1470827824
|
|
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
|
|
|
NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)
|
|
|
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
|
|
|
NM_173660.5(DOK7):c.501C>T (p.Phe167=)
|
rs1374098055
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
|
|
|
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
|
|
|
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
|
|
|
NM_173660.5(DOK7):c.532+13G>A
|
|
|
NM_173660.5(DOK7):c.532+15G>A
|
|
|
NM_173660.5(DOK7):c.532+20G>A
|
rs2109344000
|
|
NM_173660.5(DOK7):c.532+4A>C
|
|
|
NM_173660.5(DOK7):c.532+8C>T
|
|
|
NM_173660.5(DOK7):c.533-159_641del
|
rs2109369117
|
|
NM_173660.5(DOK7):c.533-15G>C
|
|
|
NM_173660.5(DOK7):c.533-16T>C
|
|
|
NM_173660.5(DOK7):c.533-19C>T
|
|
|
NM_173660.5(DOK7):c.533-4G>A
|
|
|
NM_173660.5(DOK7):c.533-6C>T
|
rs1727716278
|
|
NM_173660.5(DOK7):c.533-8C>G
|
|
|
NM_173660.5(DOK7):c.533-9C>T
|
|
|
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys)
|
rs1727716645
|
|
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro)
|
rs756146556
|
|
NM_173660.5(DOK7):c.54+11G>A
|
|
|
NM_173660.5(DOK7):c.54+13C>A
|
|
|
NM_173660.5(DOK7):c.54+16G>A
|
|
|
NM_173660.5(DOK7):c.54+20G>A
|
rs1480112817
|
|
NM_173660.5(DOK7):c.54+20del
|
rs1726078584
|
|
NM_173660.5(DOK7):c.54+21C>G
|
|
|
NM_173660.5(DOK7):c.54+21C>T
|
rs865893625
|
|
NM_173660.5(DOK7):c.54+21_54+22del
|
|
|
NM_173660.5(DOK7):c.54+21del
|
rs1170595407
|
|
NM_173660.5(DOK7):c.54+22G>A
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22G>T
|
rs1726079112
|
|
NM_173660.5(DOK7):c.54+22_54+23insA
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insC
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insT
|
|
|
NM_173660.5(DOK7):c.54+23G>C
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23G>T
|
rs781051112
|
|
NM_173660.5(DOK7):c.54+23_54+24insCG
|
|
|
NM_173660.5(DOK7):c.54+23_54+24insT
|
|
|
NM_173660.5(DOK7):c.54+24G>A
|
|
|
NM_173660.5(DOK7):c.54+24G>C
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insA
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insC
|
|
|
NM_173660.5(DOK7):c.54+25G>A
|
rs769791490
|
|
NM_173660.5(DOK7):c.54+25G>C
|
|
|
NM_173660.5(DOK7):c.54+25G>T
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insA
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insC
|
rs767285554
|
|
NM_173660.5(DOK7):c.54+25_54+26insCG
|
rs906657133
|
|
NM_173660.5(DOK7):c.54+25_54+26insT
|
|
|
NM_173660.5(DOK7):c.54+25_55-38del
|
rs769850502
|
|
NM_173660.5(DOK7):c.54+26G>A
|
|
|
NM_173660.5(DOK7):c.54+26G>C
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26G>T
|
rs543525751
|
|
NM_173660.5(DOK7):c.54+26_54+27insA
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insAGGGG
|
rs1553844254
|
|
NM_173660.5(DOK7):c.54+26_54+27insC
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insT
|
|
|
NM_173660.5(DOK7):c.54+27G>A
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>C
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27G>T
|
rs774468059
|
|
NM_173660.5(DOK7):c.54+27_54+28insA
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insC
|
rs1282356351
|
|
NM_173660.5(DOK7):c.54+27_54+28insCG
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insT
|
|
|
NM_173660.5(DOK7):c.54+28G>A
|
|
|
NM_173660.5(DOK7):c.54+28G>C
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28G>T
|
rs772575255
|
|
NM_173660.5(DOK7):c.54+28_54+29insA
|
rs777859905
|
|
NM_173660.5(DOK7):c.54+28_54+29insC
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insCG
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insT
|
|
|
NM_173660.5(DOK7):c.54+29G>A
|
|
|
NM_173660.5(DOK7):c.54+29G>C
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29G>T
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+29_54+30insA
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insC
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insT
|
|
|
NM_173660.5(DOK7):c.54+30G>A
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30G>T
|
rs562528761
|
|
NM_173660.5(DOK7):c.54+30_54+31insA
|
|
|
NM_173660.5(DOK7):c.54+31G>A
|
|
|
NM_173660.5(DOK7):c.54+31G>C
|
|
|
NM_173660.5(DOK7):c.54+31GGGCGC[3]
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insC
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insCGCG
|
|
|
NM_173660.5(DOK7):c.54+31_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32G>T
|
|
|
NM_173660.5(DOK7):c.54+32_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33insCGCGG
|
rs1485695721
|
|
NM_173660.5(DOK7):c.54+32_54+33insTG
|
|
|
NM_173660.5(DOK7):c.54+33G>A
|
|
|
NM_173660.5(DOK7):c.54+33G>C
|
rs943989420
|
|
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG
|
rs1553844286
|
|
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
|
|
|
NM_173660.5(DOK7):c.54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+34C>G
|
|
|
NM_173660.5(DOK7):c.54+34C>T
|
rs751188494
|
|
NM_173660.5(DOK7):c.54+34_54+37del
|
|
|
NM_173660.5(DOK7):c.54+34_54+38del
|
|
|
NM_173660.5(DOK7):c.54+34del
|
rs1726087779
|
|
NM_173660.5(DOK7):c.54+34dup
|
|
|
NM_173660.5(DOK7):c.54+36C>G
|
|
|
NM_173660.5(DOK7):c.54+36_54+37del
|
rs1289091767
|
|
NM_173660.5(DOK7):c.54+38G>C
|
|
|
NM_173660.5(DOK7):c.54+7G>A
|
|
|
NM_173660.5(DOK7):c.54+8_54+17dup
|
|
|
NM_173660.5(DOK7):c.54+9G>A
|
|
|
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
|
|
|
NM_173660.5(DOK7):c.546C>T (p.Phe182=)
|
rs575721820
|
|
NM_173660.5(DOK7):c.548_551del (p.Phe183fs)
|
rs606231130
|
|
NM_173660.5(DOK7):c.549C>T (p.Phe183=)
|
rs1448680067
|
|
NM_173660.5(DOK7):c.55-12C>G
|
|
|
NM_173660.5(DOK7):c.55-12_55-11del
|
|
|
NM_173660.5(DOK7):c.55-12del
|
rs1214849085
|
|
NM_173660.5(DOK7):c.55-13C>G
|
rs886038744
|
|
NM_173660.5(DOK7):c.55-13C>T
|
|
|
NM_173660.5(DOK7):c.55-15C>G
|
|
|
NM_173660.5(DOK7):c.55-16C>A
|
rs976572936
|
|
NM_173660.5(DOK7):c.55-17C>T
|
|
|
NM_173660.5(DOK7):c.55-18_55-17insA
|
|
|
NM_173660.5(DOK7):c.55-38G>A
|
|
|
NM_173660.5(DOK7):c.55-4G>A
|
|
|
NM_173660.5(DOK7):c.55-8C>T
|
rs2109312415
|
|
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
|
|
|
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro)
|
rs1727718542
|
|
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
|
|
|
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro)
|
rs1220205278
|
|
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp)
|
rs375631042
|
|
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp)
|
rs1727720417
|
|
NM_173660.5(DOK7):c.570G>A (p.Glu190=)
|
rs962876610
|
|
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
|
|
|
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
|
|
|
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu)
|
rs149940009
|
|
NM_173660.5(DOK7):c.588C>T (p.Phe196=)
|
rs149940009
|
|
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
|
|
|
NM_173660.5(DOK7):c.600C>A (p.Val200=)
|
|
|
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
|
rs118203995
|
|
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
|
|
|
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
|
|
|
NM_173660.5(DOK7):c.612C>T (p.Ser204=)
|
rs2109370734
|
|
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr)
|
rs1553847993
|
|
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
|
|
|
NM_173660.5(DOK7):c.615C>G (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.615C>T (p.Pro205=)
|
rs553239093
|
|
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
|
|
|
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln)
|
rs1240579533
|
|
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
|
|
|
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr)
|
rs759603846
|
|
NM_173660.5(DOK7):c.633G>T (p.Gly211=)
|
rs1577165754
|
|
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro)
|
rs371408752
|
|
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu)
|
rs371408752
|
|
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
|
|
|
NM_173660.5(DOK7):c.642G>C (p.Pro214=)
|
rs746371931
|
|
NM_173660.5(DOK7):c.652+16T>G
|
|
|
NM_173660.5(DOK7):c.652+1dup
|
rs1727731607
|
|
NM_173660.5(DOK7):c.652+20C>G
|
|
|
NM_173660.5(DOK7):c.652+20C>T
|
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|
NM_173660.5(DOK7):c.652+4C>T
|
rs374675986
|
|
NM_173660.5(DOK7):c.652+8T>C
|
|
|
NM_173660.5(DOK7):c.652+9G>A
|
|
|
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
|
|
|
NM_173660.5(DOK7):c.653-11_653-8del
|
|
|
NM_173660.5(DOK7):c.653-13C>T
|
|
|
NM_173660.5(DOK7):c.653-18G>A
|
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NM_173660.5(DOK7):c.653-20G>A
|
|
|
NM_173660.5(DOK7):c.653-20G>C
|
|
|
NM_173660.5(DOK7):c.653-20G>T
|
rs185980724
|
|
NM_173660.5(DOK7):c.653-20del
|
|
|
NM_173660.5(DOK7):c.653-3C>T
|
rs767745850
|
|
NM_173660.5(DOK7):c.653-4A>G
|
rs1577171863
|
|
NM_173660.5(DOK7):c.653-5C>T
|
|
|
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu)
|
rs1728055459
|
|
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
|
|
|
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
|
|
|
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr)
|
rs377167511
|
|
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
|
|
|
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser)
|
rs377167511
|
|
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
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|
|
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
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|
NM_173660.5(DOK7):c.668dup (p.Pro224fs)
|
|
|
NM_173660.5(DOK7):c.66G>A (p.Arg22=)
|
rs1726093217
|
|
NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)
|
|
|
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
|
|
|
NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)
|
|
|
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
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|
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
|
|
|
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
|
|
|
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu)
|
rs2109312461
|
|
NM_173660.5(DOK7):c.690T>G (p.Arg230=)
|
rs1577172106
|
|
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
|
|
|
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
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NM_173660.5(DOK7):c.6C>T (p.Thr2=)
|
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|
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
|
|
|
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg)
|
rs2109388893
|
|
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
|
|
|
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
|
|
|
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
|
|
|
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
|
|
|
NM_173660.5(DOK7):c.718C>T (p.Gln240Ter)
|
|
|
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
|
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|
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
|
|
|
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
|
|
|
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
|
|
|
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
|
|
|
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr)
|
rs2109389067
|
|
NM_173660.5(DOK7):c.743_746dup (p.His250fs)
|
rs1560224831
|
|
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
|
|
|
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
|
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
|
|
|
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val)
|
rs1577172369
|
|
NM_173660.5(DOK7):c.753G>C (p.Ala251=)
|
rs59932476
|
|
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
|
|
|
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
|
|
|
NM_173660.5(DOK7):c.757_772+3del
|
|
|
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del)
|
rs373384998
|
|
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg)
|
rs200407250
|
|
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu)
|
rs200407250
|
|
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
|
|
|
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
|
|
|
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
|
|
|
NM_173660.5(DOK7):c.772+13G>A
|
|
|
NM_173660.5(DOK7):c.772+13dup
|
|
|
NM_173660.5(DOK7):c.772+14C>T
|
rs201023802
|
|
NM_173660.5(DOK7):c.772+14del
|
|
|
NM_173660.5(DOK7):c.772+4G>A
|
|
|
NM_173660.5(DOK7):c.772+6G>C
|
rs2109389412
|
|
NM_173660.5(DOK7):c.772+8C>G
|
|
|
NM_173660.5(DOK7):c.773-10T>G
|
|
|
NM_173660.5(DOK7):c.773-11C>T
|
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|
NM_173660.5(DOK7):c.773-13T>C
|
|
|
NM_173660.5(DOK7):c.773-15C>G
|
|
|
NM_173660.5(DOK7):c.773-15C>T
|
|
|
NM_173660.5(DOK7):c.773-19G>T
|
|
|
NM_173660.5(DOK7):c.773-1G>A
|
rs1268475752
|
|
NM_173660.5(DOK7):c.773-1G>C
|
|
|
NM_173660.5(DOK7):c.773-2A>C
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-2A>T
|
rs1229979805
|
|
NM_173660.5(DOK7):c.773-7_773-4del
|
|
|
NM_173660.5(DOK7):c.773-8_797del
|
|
|
NM_173660.5(DOK7):c.773-9C>G
|
|
|
NM_173660.5(DOK7):c.773-9C>T
|
rs376190589
|
|
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
|
|
|
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)
|
rs142821143
|
|
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)
|
rs142821143
|
|
NM_173660.5(DOK7):c.783C>G (p.Arg261=)
|
rs1366900661
|
|
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
|
|
|
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
|
|
|
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys)
|
rs763233743
|
|
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
|
|
|
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
|
|
|
NM_173660.5(DOK7):c.810_811del (p.His272fs)
|
rs778227501
|
|
NM_173660.5(DOK7):c.814C>T (p.His272Tyr)
|
rs1226413438
|
|
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
|
|
|
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala)
|
rs1372127333
|
|
NM_173660.5(DOK7):c.825C>G (p.Val275=)
|
|
|
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
|
|
|
NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)
|
|
|
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
|
|
|
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys)
|
rs1577181909
|
|
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln)
|
rs1577181909
|
|
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
|
|
|
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
|
|
|
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
|
|
|
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
|
|
|
NM_173660.5(DOK7):c.867G>C (p.Ser289=)
|
rs145862647
|
|
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del)
|
rs749831515
|
|
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
|
|
|
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
|
|
|
NM_173660.5(DOK7):c.870G>A (p.Ser290=)
|
rs149019681
|
|
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
|
|
|
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
|
|
|
NM_173660.5(DOK7):c.875C>T (p.Ala292Val)
|
rs761676338
|
|
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
|
|
|
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys)
|
rs151079259
|
|
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
|
|
|
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
|
|
|
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
|
|
|
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu)
|
rs6811423
|
|
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys)
|
rs1728590424
|
|
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
|
|
|
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu)
|
rs1553850025
|
|
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
|
|
|
NM_173660.5(DOK7):c.894dup (p.Pro299fs)
|
|
|
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
|
|
|
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
|
|
|
NM_173660.5(DOK7):c.918C>G (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro)
|
rs150415034
|
|
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
|
|
|
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
|
|
|
NM_173660.5(DOK7):c.925del (p.Glu309fs)
|
rs1182982672
|
|
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
|
|
|
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser)
|
rs1313698372
|
|
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
|
|
|
NM_173660.5(DOK7):c.946A>C (p.Arg316=)
|
rs898373845
|
|
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
|
|
|
NM_173660.5(DOK7):c.956C>A (p.Pro319His)
|
rs376334067
|
|
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg)
|
rs376334067
|
|
NM_173660.5(DOK7):c.957C>T (p.Pro319=)
|
rs777573281
|
|
NM_173660.5(DOK7):c.957del (p.Lys320fs)
|
rs794727884
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)
|
|
|
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
|
|
|
NM_173660.5(DOK7):c.963G>A (p.Pro321=)
|
rs112624739
|
|
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
|
|
|
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
|
|
|
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
|
NM_173660.5(DOK7):c.96G>A (p.Val32=)
|
|
|
NM_173660.5(DOK7):c.96G>T (p.Val32=)
|
|
|
NM_173660.5(DOK7):c.973C>A (p.Arg325=)
|
rs376280466
|
|
NM_173660.5(DOK7):c.978_1018del (p.Gln326fs)
|
rs2109417797
|
|
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr)
|
rs1425852835
|
|
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg)
|
rs752168445
|
|
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
|
|
|
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
|
|
|
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
|
|
|
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
|
|
|
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
|
|
|
NM_198576.4(AGRN):c.1011G>A (p.Thr337=)
|
|
|
NM_198576.4(AGRN):c.1016G>A (p.Arg339His)
|
|
|
NM_198576.4(AGRN):c.1016G>T (p.Arg339Leu)
|
rs1438592464
|
|
NM_198576.4(AGRN):c.1017C>T (p.Arg339=)
|
|
|
NM_198576.4(AGRN):c.1019C>G (p.Pro340Arg)
|
|
|
NM_198576.4(AGRN):c.1019C>T (p.Pro340Leu)
|
|
|
NM_198576.4(AGRN):c.1026G>C (p.Met342Ile)
|
rs751462657
|
|
NM_198576.4(AGRN):c.1028T>C (p.Leu343Pro)
|
|
|
NM_198576.4(AGRN):c.1033C>A (p.Arg345=)
|
|
|
NM_198576.4(AGRN):c.1036_1039dup (p.Glu347fs)
|
rs1570195582
|
|
NM_198576.4(AGRN):c.1053C>T (p.Ala351=)
|
|
|
NM_198576.4(AGRN):c.1054C>G (p.Arg352Gly)
|
rs149868381
|
|
NM_198576.4(AGRN):c.1060G>A (p.Ala354Thr)
|
|
|
NM_198576.4(AGRN):c.1061C>A (p.Ala354Glu)
|
|
|
NM_198576.4(AGRN):c.1061C>G (p.Ala354Gly)
|
|
|
NM_198576.4(AGRN):c.1064C>T (p.Pro355Leu)
|
rs2100635172
|
|
NM_198576.4(AGRN):c.1066G>T (p.Val356Leu)
|
|
|
NM_198576.4(AGRN):c.1068G>T (p.Val356=)
|
|
|
NM_198576.4(AGRN):c.1075G>A (p.Asp359Asn)
|
|
|
NM_198576.4(AGRN):c.1077_1083del (p.Asp359fs)
|
rs2100635216
|
|
NM_198576.4(AGRN):c.1080C>A (p.Asp360Glu)
|
rs750165361
|
|
NM_198576.4(AGRN):c.1092C>T (p.Tyr364=)
|
rs1436268521
|
|
NM_198576.4(AGRN):c.1099G>A (p.Asp367Asn)
|
rs1417668906
|
|
NM_198576.4(AGRN):c.1105G>A (p.Val369Ile)
|
rs2100635437
|
|
NM_198576.4(AGRN):c.1105_1106del (p.Val369fs)
|
rs2100635414
|
|
NM_198576.4(AGRN):c.1119G>A (p.Ser373=)
|
|
|
NM_198576.4(AGRN):c.1119G>C (p.Ser373=)
|
|
|
NM_198576.4(AGRN):c.1123G>A (p.Ala375Thr)
|
|
|
NM_198576.4(AGRN):c.1130G>A (p.Arg377Gln)
|
rs1553174827
|
|
NM_198576.4(AGRN):c.1140C>T (p.Leu380=)
|
|
|
NM_198576.4(AGRN):c.1143_1144delinsAA (p.Gln382Lys)
|
rs2100635728
|
|
NM_198576.4(AGRN):c.1144C>A (p.Gln382Lys)
|
rs1557701584
|
|
NM_198576.4(AGRN):c.1145A>G (p.Gln382Arg)
|
rs1553174830
|
|
NM_198576.4(AGRN):c.1157C>T (p.Ser386Phe)
|
rs28450113
|
|
NM_198576.4(AGRN):c.1172G>A (p.Gly391Asp)
|
rs747578197
|
|
NM_198576.4(AGRN):c.1173T>C (p.Gly391=)
|
|
|
NM_198576.4(AGRN):c.1177+11C>A
|
rs746403405
|
|
NM_198576.4(AGRN):c.1177+13C>T
|
|
|
NM_198576.4(AGRN):c.1177+15C>G
|
rs770405970
|
|
NM_198576.4(AGRN):c.1177+20dup
|
|
|
NM_198576.4(AGRN):c.1178-7_1178-6inv
|
|
|
NM_198576.4(AGRN):c.1182G>T (p.Gln394His)
|
rs1343857691
|
|
NM_198576.4(AGRN):c.1187C>A (p.Pro396Gln)
|
rs374230348
|
|
NM_198576.4(AGRN):c.1190A>G (p.Glu397Gly)
|
|
|
NM_198576.4(AGRN):c.1192C>A (p.Pro398Thr)
|
rs138165746
|
|
NM_198576.4(AGRN):c.1197C>A (p.Cys399Ter)
|
|
|
NM_198576.4(AGRN):c.1216C>T (p.Leu406=)
|
rs769507883
|
|
NM_198576.4(AGRN):c.1231C>T (p.Arg411Cys)
|
|
|
NM_198576.4(AGRN):c.1235C>A (p.Pro412His)
|
rs912828963
|
|
NM_198576.4(AGRN):c.1237C>T (p.Arg413Cys)
|
|
|
NM_198576.4(AGRN):c.1245C>G (p.Ser415=)
|
|
|
NM_198576.4(AGRN):c.1250A>G (p.Asp417Gly)
|
|
|
NM_198576.4(AGRN):c.1251C>T (p.Asp417=)
|
|
|
NM_198576.4(AGRN):c.1254C>G (p.Arg418=)
|
|
|
NM_198576.4(AGRN):c.1264G>A (p.Asp422Asn)
|
rs1644958223
|
|
NM_198576.4(AGRN):c.1275C>G (p.Tyr425Ter)
|
rs1239736447
|
|
NM_198576.4(AGRN):c.1275C>T (p.Tyr425=)
|
|
|
NM_198576.4(AGRN):c.1294G>A (p.Asp432Asn)
|
|
|
NM_198576.4(AGRN):c.1298G>C (p.Gly433Ala)
|
|
|
NM_198576.4(AGRN):c.1301G>A (p.Arg434His)
|
|
|
NM_198576.4(AGRN):c.1321T>C (p.Trp441Arg)
|
rs746008311
|
|
NM_198576.4(AGRN):c.1329G>A (p.Gln443=)
|
rs1644960998
|
|
NM_198576.4(AGRN):c.1331A>G (p.Gln444Arg)
|
|
|
NM_198576.4(AGRN):c.1333_1350dup (p.Gln450_Arg451insAlaGluCysArgGlnGln)
|
|
|
NM_198576.4(AGRN):c.1338G>A (p.Glu446=)
|
|
|
NM_198576.4(AGRN):c.1351C>T (p.Arg451Cys)
|
rs974149667
|
|
NM_198576.4(AGRN):c.1359C>T (p.Ile453=)
|
|
|
NM_198576.4(AGRN):c.1372C>G (p.Gln458Glu)
|
|
|
NM_198576.4(AGRN):c.1380G>C (p.Pro460=)
|
|
|
NM_198576.4(AGRN):c.1384+11dup
|
rs753318299
|
|
NM_198576.4(AGRN):c.1384+3G>A
|
rs1644962420
|
|
NM_198576.4(AGRN):c.1384+7G>A
|
rs552044488
|
|
NM_198576.4(AGRN):c.1384+7G>C
|
rs552044488
|
|
NM_198576.4(AGRN):c.1385-16_1385-15del
|
rs200933055
|
|
NM_198576.4(AGRN):c.1385-19G>A
|
|
|
NM_198576.4(AGRN):c.1386C>G (p.Asp462Glu)
|
|
|
NM_198576.4(AGRN):c.1392C>T (p.Ala464=)
|
|
|
NM_198576.4(AGRN):c.1400C>T (p.Pro467Leu)
|
|
|
NM_198576.4(AGRN):c.1401A>G (p.Pro467=)
|
rs763998310
|
|
NM_198576.4(AGRN):c.1407C>T (p.Leu469=)
|
rs757288952
|
|
NM_198576.4(AGRN):c.1408G>A (p.Gly470Arg)
|
|
|
NM_198576.4(AGRN):c.1408G>T (p.Gly470Trp)
|
|
|
NM_198576.4(AGRN):c.1419T>G (p.Cys473Trp)
|
|
|
NM_198576.4(AGRN):c.1430C>T (p.Ala477Val)
|
|
|
NM_198576.4(AGRN):c.1431G>A (p.Ala477=)
|
rs755387116
|
|
NM_198576.4(AGRN):c.1433C>T (p.Thr478Met)
|
|
|
NM_198576.4(AGRN):c.144C>T (p.Thr48=)
|
rs1282970149
|
|
NM_198576.4(AGRN):c.1457C>T (p.Ala486Val)
|
rs1644996879
|
|
NM_198576.4(AGRN):c.1460C>A (p.Ala487Glu)
|
rs139302553
|
|
NM_198576.4(AGRN):c.1473G>T (p.Leu491=)
|
|
|
NM_198576.4(AGRN):c.1478C>T (p.Ala493Val)
|
|
|
NM_198576.4(AGRN):c.1485G>C (p.Ser495=)
|
|
|
NM_198576.4(AGRN):c.1493A>G (p.Tyr498Cys)
|
|
|
NM_198576.4(AGRN):c.1494C>T (p.Tyr498=)
|
rs772353280
|
|
NM_198576.4(AGRN):c.1495G>T (p.Asp499Tyr)
|
rs778233185
|
|
NM_198576.4(AGRN):c.1533C>G (p.Ser511Arg)
|
rs778447033
|
|
NM_198576.4(AGRN):c.1536G>A (p.Ala512=)
|
rs747376278
|
|
NM_198576.4(AGRN):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_198576.4(AGRN):c.1543C>G (p.Leu515Val)
|
rs1007639697
|
|
NM_198576.4(AGRN):c.1554G>A (p.Thr518=)
|
|
|
NM_198576.4(AGRN):c.1562C>T (p.Thr521Ile)
|
rs763120539
|
|
NM_198576.4(AGRN):c.1563C>T (p.Thr521=)
|
rs1570205843
|
|
NM_198576.4(AGRN):c.1589G>T (p.Arg530Leu)
|
rs139590454
|
|
NM_198576.4(AGRN):c.1599C>T (p.Pro533=)
|
|
|
NM_198576.4(AGRN):c.159G>A (p.Glu53=)
|
rs2100555876
|
|
NM_198576.4(AGRN):c.1603+19dup
|
|
|
NM_198576.4(AGRN):c.1603+3C>T
|
|
|
NM_198576.4(AGRN):c.1604-17T>C
|
rs2100645110
|
|
NM_198576.4(AGRN):c.1604-19G>C
|
rs778914116
|
|
NM_198576.4(AGRN):c.1604-6C>T
|
rs1432022848
|
|
NM_198576.4(AGRN):c.1612G>T (p.Gly538Trp)
|
rs558214372
|
|
NM_198576.4(AGRN):c.1614G>C (p.Gly538=)
|
rs2100645293
|
|
NM_198576.4(AGRN):c.1620C>T (p.Cys540=)
|
|
|
NM_198576.4(AGRN):c.1621C>T (p.Arg541Cys)
|
|
|
NM_198576.4(AGRN):c.1639G>A (p.Glu547Lys)
|
|
|
NM_198576.4(AGRN):c.1644C>T (p.Ala548=)
|
|
|
NM_198576.4(AGRN):c.1650C>G (p.Thr550=)
|
rs201719609
|
|
NM_198576.4(AGRN):c.1650C>T (p.Thr550=)
|
rs201719609
|
|
NM_198576.4(AGRN):c.1652G>A (p.Gly551Glu)
|
|
|
NM_198576.4(AGRN):c.1653G>A (p.Gly551=)
|
|
|
NM_198576.4(AGRN):c.1659C>G (p.Cys553Trp)
|
rs541915367
|
|
NM_198576.4(AGRN):c.165C>T (p.Leu55=)
|
|
|
NM_198576.4(AGRN):c.1665C>G (p.Cys555Trp)
|
|
|
NM_198576.4(AGRN):c.1666C>T (p.Pro556Ser)
|
rs768688446
|
|
NM_198576.4(AGRN):c.1668del (p.Ser557fs)
|
|
|
NM_198576.4(AGRN):c.1707C>T (p.Ser569=)
|
|
|
NM_198576.4(AGRN):c.1711G>A (p.Gly571Arg)
|
|
|
NM_198576.4(AGRN):c.1719G>T (p.Thr573=)
|
rs150246085
|
|
NM_198576.4(AGRN):c.1731G>A (p.Glu577=)
|
|
|
NM_198576.4(AGRN):c.1732T>A (p.Cys578Ser)
|
rs1324176773
|
|
NM_198576.4(AGRN):c.1734C>A (p.Cys578Ter)
|
|
|
NM_198576.4(AGRN):c.1743C>G (p.His581Gln)
|
rs201239522
|
|
NM_198576.4(AGRN):c.1764G>A (p.Gln588=)
|
rs2100645986
|
|
NM_198576.4(AGRN):c.1765A>G (p.Ile589Val)
|
rs1333774861
|
|
NM_198576.4(AGRN):c.1773G>A (p.Leu591=)
|
|
|
NM_198576.4(AGRN):c.1783_1784delinsCT (p.Ser595Leu)
|
rs1645011212
|
|
NM_198576.4(AGRN):c.1789G>A (p.Gly597Arg)
|
|
|
NM_198576.4(AGRN):c.1792C>T (p.Pro598Ser)
|
|
|
NM_198576.4(AGRN):c.1798+13C>T
|
|
|
NM_198576.4(AGRN):c.1798+1G>T
|
|
|
NM_198576.4(AGRN):c.1798+9G>A
|
|
|
NM_198576.4(AGRN):c.1799-1G>A
|
|
|
NM_198576.4(AGRN):c.1799-4G>A
|
rs1362676470
|
|
NM_198576.4(AGRN):c.1816G>A (p.Val606Met)
|
rs747982009
|
|
NM_198576.4(AGRN):c.1826T>C (p.Phe609Ser)
|
rs1246417325
|
|
NM_198576.4(AGRN):c.1843G>T (p.Ala615Ser)
|
rs762357955
|
|
NM_198576.4(AGRN):c.1856T>C (p.Val619Ala)
|
rs1320843935
|
|
NM_198576.4(AGRN):c.1873C>T (p.His625Tyr)
|
rs1487673393
|
|
NM_198576.4(AGRN):c.1879C>G (p.Pro627Ala)
|
rs1180781232
|
|
NM_198576.4(AGRN):c.1879C>T (p.Pro627Ser)
|
rs1180781232
|
|
NM_198576.4(AGRN):c.1885G>A (p.Gly629Ser)
|
|
|
NM_198576.4(AGRN):c.189G>C (p.Thr63=)
|
rs1570124875
|
|
NM_198576.4(AGRN):c.1903G>A (p.Asp635Asn)
|
|
|
NM_198576.4(AGRN):c.1906G>C (p.Gly636Arg)
|
|
|
NM_198576.4(AGRN):c.1906_1911del (p.Gly636_Val637del)
|
|
|
NM_198576.4(AGRN):c.1920C>T (p.Gly640=)
|
rs763833644
|
|
NM_198576.4(AGRN):c.1932G>A (p.Glu644=)
|
rs1645019549
|
|
NM_198576.4(AGRN):c.1941A>G (p.Glu647=)
|
|
|
NM_198576.4(AGRN):c.1944C>T (p.Ala648=)
|
|
|
NM_198576.4(AGRN):c.1951C>G (p.Leu651Val)
|
rs754639566
|
|
NM_198576.4(AGRN):c.1961C>T (p.Thr654Ile)
|
|
|
NM_198576.4(AGRN):c.1968C>A (p.Ile656=)
|
rs770946661
|
|
NM_198576.4(AGRN):c.1968C>T (p.Ile656=)
|
|
|
NM_198576.4(AGRN):c.1972G>A (p.Glu658Lys)
|
|
|
NM_198576.4(AGRN):c.1974G>A (p.Glu658=)
|
rs1230399331
|
|
NM_198576.4(AGRN):c.1979G>A (p.Arg660Gln)
|
rs370983524
|
|
NM_198576.4(AGRN):c.1979G>T (p.Arg660Leu)
|
rs370983524
|
|
NM_198576.4(AGRN):c.1983A>G (p.Ala661=)
|
|
|
NM_198576.4(AGRN):c.1992C>T (p.Cys664=)
|
|
|
NM_198576.4(AGRN):c.1999+15G>A
|
|
|
NM_198576.4(AGRN):c.1999+4G>A
|
rs55852615
|
|
NM_198576.4(AGRN):c.2000-3C>T
|
|
|
NM_198576.4(AGRN):c.2000-5C>G
|
rs757769063
|
|
NM_198576.4(AGRN):c.2002G>T (p.Glu668Ter)
|
rs199801106
|
|
NM_198576.4(AGRN):c.201+17C>T
|
rs2100556027
|
|
NM_198576.4(AGRN):c.201+18C>G
|
|
|
NM_198576.4(AGRN):c.201+19C>G
|
rs780017933
|
|
NM_198576.4(AGRN):c.201+19C>T
|
rs780017933
|
|
NM_198576.4(AGRN):c.202-6C>T
|
|
|
NM_198576.4(AGRN):c.2042A>G (p.Asp681Gly)
|
rs1645026070
|
|
NM_198576.4(AGRN):c.2048A>C (p.Glu683Ala)
|
|
|
NM_198576.4(AGRN):c.2068C>T (p.Arg690Cys)
|
rs1645026919
|
|
NM_198576.4(AGRN):c.2083G>C (p.Asp695His)
|
|
|
NM_198576.4(AGRN):c.2085C>T (p.Asp695=)
|
|
|
NM_198576.4(AGRN):c.2086G>C (p.Glu696Gln)
|
rs143010947
|
|
NM_198576.4(AGRN):c.2089G>A (p.Asp697Asn)
|
rs148201851
|
|
NM_198576.4(AGRN):c.2098G>A (p.Asp700Asn)
|
rs1246526127
|
|
NM_198576.4(AGRN):c.20C>G (p.Pro7Arg)
|
rs1389840850
|
|
NM_198576.4(AGRN):c.20C>T (p.Pro7Leu)
|
rs1389840850
|
|
NM_198576.4(AGRN):c.2105C>A (p.Pro702Gln)
|
rs149814455
|
|
NM_198576.4(AGRN):c.2105C>T (p.Pro702Leu)
|
rs149814455
|
|
NM_198576.4(AGRN):c.2121C>T (p.Phe707=)
|
|
|
NM_198576.4(AGRN):c.2148+13C>T
|
rs1344311577
|
|
NM_198576.4(AGRN):c.2148+14C>T
|
|
|
NM_198576.4(AGRN):c.2149-18A>G
|
|
|
NM_198576.4(AGRN):c.2159C>T (p.Ser720Leu)
|
rs2100649359
|
|
NM_198576.4(AGRN):c.2169C>T (p.Val723=)
|
|
|
NM_198576.4(AGRN):c.2190G>A (p.Glu730=)
|
|
|
NM_198576.4(AGRN):c.2197_2198delinsGC (p.Lys733Ala)
|
rs2100649601
|
|
NM_198576.4(AGRN):c.2199G>A (p.Lys733=)
|
|
|
NM_198576.4(AGRN):c.21G>T (p.Pro7=)
|
|
|
NM_198576.4(AGRN):c.2222G>T (p.Gly741Val)
|
|
|
NM_198576.4(AGRN):c.2225T>C (p.Leu742Pro)
|
rs2100649704
|
|
NM_198576.4(AGRN):c.2229C>T (p.Tyr743=)
|
|
|
NM_198576.4(AGRN):c.2235G>T (p.Ala745=)
|
rs542660796
|
|
NM_198576.4(AGRN):c.2254+15C>T
|
|
|
NM_198576.4(AGRN):c.2254+16G>C
|
rs114389542
|
|
NM_198576.4(AGRN):c.2254+18G>C
|
|
|
NM_198576.4(AGRN):c.2254+19G>A
|
|
|
NM_198576.4(AGRN):c.2254+21dup
|
|
|
NM_198576.4(AGRN):c.2254+7C>T
|
|
|
NM_198576.4(AGRN):c.2255-11C>T
|
|
|
NM_198576.4(AGRN):c.2255-16G>A
|
|
|
NM_198576.4(AGRN):c.2255-16G>T
|
rs779589340
|
|
NM_198576.4(AGRN):c.2255-17C>T
|
rs200841427
|
|
NM_198576.4(AGRN):c.2255-4G>A
|
rs1570215835
|
|
NM_198576.4(AGRN):c.225G>A (p.Lys75=)
|
|
|
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)
|
rs756623659
|
|
NM_198576.4(AGRN):c.2270C>A (p.Pro757Gln)
|
|
|
NM_198576.4(AGRN):c.2270C>G (p.Pro757Arg)
|
rs202172924
|
|
NM_198576.4(AGRN):c.2284G>T (p.Ala762Ser)
|
|
|
NM_198576.4(AGRN):c.2286C>T (p.Ala762=)
|
rs1205105049
|
|
NM_198576.4(AGRN):c.2295C>G (p.His765Gln)
|
|
|
NM_198576.4(AGRN):c.2308C>T (p.Pro770Ser)
|
|
|
NM_198576.4(AGRN):c.2310C>G (p.Pro770=)
|
|
|
NM_198576.4(AGRN):c.231A>G (p.Lys77=)
|
rs1446604818
|
|
NM_198576.4(AGRN):c.2325G>A (p.Gln775=)
|
|
|
NM_198576.4(AGRN):c.2329A>G (p.Asn777Asp)
|
rs777783441
|
|
NM_198576.4(AGRN):c.232G>A (p.Asp78Asn)
|
rs1570131308
|
|
NM_198576.4(AGRN):c.2330A>G (p.Asn777Ser)
|
|
|
NM_198576.4(AGRN):c.2341G>A (p.Ala781Thr)
|
rs2100653148
|
|
NM_198576.4(AGRN):c.2342C>A (p.Ala781Asp)
|
rs868527594
|
|
NM_198576.4(AGRN):c.2359G>T (p.Ala787Ser)
|
rs1645058185
|
|
NM_198576.4(AGRN):c.2360C>G (p.Ala787Gly)
|
rs560842858
|
|
NM_198576.4(AGRN):c.2371+1G>T
|
|
|
NM_198576.4(AGRN):c.2372-7C>T
|
rs1384767916
|
|
NM_198576.4(AGRN):c.2376C>T (p.Ala792=)
|
rs1570217131
|
|
NM_198576.4(AGRN):c.2391C>G (p.Pro797=)
|
rs892393732
|
|
NM_198576.4(AGRN):c.23G>C (p.Gly8Ala)
|
|
|
NM_198576.4(AGRN):c.2406C>A (p.Gly802=)
|
rs75774767
|
|
NM_198576.4(AGRN):c.2421A>G (p.Pro807=)
|
|
|
NM_198576.4(AGRN):c.2424C>T (p.Ala808=)
|
rs1553176121
|
|
NM_198576.4(AGRN):c.243C>A (p.Ala81=)
|
rs1395381200
|
|
NM_198576.4(AGRN):c.2444G>T (p.Arg815Leu)
|
rs755142502
|
|
NM_198576.4(AGRN):c.2457G>A (p.Gly819=)
|
rs112039851
|
|
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)
|
rs112039851
|
|
NM_198576.4(AGRN):c.2466G>A (p.Arg822=)
|
|
|
NM_198576.4(AGRN):c.2475C>T (p.Arg825=)
|
|
|
NM_198576.4(AGRN):c.2482C>T (p.Pro828Ser)
|
rs773983766
|
|
NM_198576.4(AGRN):c.2486G>A (p.Gly829Asp)
|
|
|
NM_198576.4(AGRN):c.24C>T (p.Gly8=)
|
|
|
NM_198576.4(AGRN):c.2500C>T (p.Arg834Ter)
|
rs1645065317
|
|
NM_198576.4(AGRN):c.2500_2501delinsGA (p.Arg834Glu)
|
rs1645065370
|
|
NM_198576.4(AGRN):c.2509G>A (p.Val837Ile)
|
|
|
NM_198576.4(AGRN):c.2514C>T (p.Thr838=)
|
rs199577370
|
|
NM_198576.4(AGRN):c.2517T>C (p.Asp839=)
|
rs1645065952
|
|
NM_198576.4(AGRN):c.2536+14C>T
|
rs1293258104
|
|
NM_198576.4(AGRN):c.2536+3G>T
|
|
|
NM_198576.4(AGRN):c.2536+4A>G
|
rs772478233
|
|
NM_198576.4(AGRN):c.2537-11T>A
|
rs2100655297
|
|
NM_198576.4(AGRN):c.2537-13A>G
|
|
|
NM_198576.4(AGRN):c.2538C>T (p.Pro846=)
|
rs376387543
|
|
NM_198576.4(AGRN):c.2542A>G (p.Ser848Gly)
|
|
|
NM_198576.4(AGRN):c.2560G>A (p.Ala854Thr)
|
|
|
NM_198576.4(AGRN):c.2562C>G (p.Ala854=)
|
|
|
NM_198576.4(AGRN):c.2566C>G (p.Arg856Gly)
|
rs770329947
|
|
NM_198576.4(AGRN):c.2570A>G (p.Asp857Gly)
|
rs1645073077
|
|
NM_198576.4(AGRN):c.2601G>C (p.Ser867=)
|
rs144794590
|
|
NM_198576.4(AGRN):c.2601G>T (p.Ser867=)
|
rs144794590
|
|
NM_198576.4(AGRN):c.2611G>T (p.Gly871Trp)
|
|
|
NM_198576.4(AGRN):c.2619T>C (p.Ala873=)
|
|
|
NM_198576.4(AGRN):c.2637G>A (p.Gln879=)
|
rs1267005027
|
|
NM_198576.4(AGRN):c.2637G>T (p.Gln879His)
|
rs1267005027
|
|
NM_198576.4(AGRN):c.2645_2654del (p.Asp882fs)
|
|
|
NM_198576.4(AGRN):c.264C>T (p.Gly88=)
|
|
|
NM_198576.4(AGRN):c.2650C>G (p.Arg884Gly)
|
|
|
NM_198576.4(AGRN):c.2650C>T (p.Arg884Cys)
|
rs539990009
|
|
NM_198576.4(AGRN):c.2653G>A (p.Ala885Thr)
|
rs1400043784
|
|
NM_198576.4(AGRN):c.2655C>G (p.Ala885=)
|
|
|
NM_198576.4(AGRN):c.2656C>G (p.Leu886Val)
|
rs1343116368
|
|
NM_198576.4(AGRN):c.2665G>A (p.Ala889Thr)
|
|
|
NM_198576.4(AGRN):c.2666C>A (p.Ala889Glu)
|
|
|
NM_198576.4(AGRN):c.266G>T (p.Gly89Val)
|
|
|
NM_198576.4(AGRN):c.2670C>T (p.Gly890=)
|
rs1019506413
|
|
NM_198576.4(AGRN):c.2671T>C (p.Cys891Arg)
|
|
|
NM_198576.4(AGRN):c.2680+10G>A
|
|
|
NM_198576.4(AGRN):c.2681-18C>T
|
|
|
NM_198576.4(AGRN):c.2681-7G>T
|
rs1557709524
|
|
NM_198576.4(AGRN):c.2684C>G (p.Ala895Gly)
|
rs1570220791
|
|
NM_198576.4(AGRN):c.2694T>C (p.Pro898=)
|
rs2100656637
|
|
NM_198576.4(AGRN):c.2697G>A (p.Ala899=)
|
|
|
NM_198576.4(AGRN):c.2699C>G (p.Thr900Ser)
|
|
|
NM_198576.4(AGRN):c.2699C>T (p.Thr900Ile)
|
|
|
NM_198576.4(AGRN):c.269A>G (p.Asn90Ser)
|
rs1260100487
|
|
NM_198576.4(AGRN):c.2713C>G (p.Arg905Gly)
|
rs199593375
|
|
NM_198576.4(AGRN):c.2713C>T (p.Arg905Cys)
|
rs199593375
|
|
NM_198576.4(AGRN):c.2724C>T (p.Phe908=)
|
|
|
NM_198576.4(AGRN):c.2726G>C (p.Gly909Ala)
|
|
|
NM_198576.4(AGRN):c.2746T>C (p.Ser916Pro)
|
rs759245681
|
|
NM_198576.4(AGRN):c.2750G>A (p.Gly917Asp)
|
rs2100656885
|
|
NM_198576.4(AGRN):c.2772G>A (p.Pro924=)
|
|
|
NM_198576.4(AGRN):c.2789A>C (p.Glu930Ala)
|
|
|
NM_198576.4(AGRN):c.2794A>G (p.Asn932Asp)
|
|
|
NM_198576.4(AGRN):c.2799T>A (p.Ala933=)
|
rs1286031168
|
|
NM_198576.4(AGRN):c.27G>A (p.Pro9=)
|
rs1360432726
|
|
NM_198576.4(AGRN):c.2805+12G>A
|
|
|
NM_198576.4(AGRN):c.2805+7G>T
|
|
|
NM_198576.4(AGRN):c.2805+9T>G
|
|
|
NM_198576.4(AGRN):c.2806-14G>A
|
|
|
NM_198576.4(AGRN):c.2806-15T>C
|
rs2100657449
|
|
NM_198576.4(AGRN):c.2806-18C>T
|
|
|
NM_198576.4(AGRN):c.2806-5C>T
|
rs200385841
|
|
NM_198576.4(AGRN):c.2806-6C>T
|
rs1570221889
|
|
NM_198576.4(AGRN):c.2808C>G (p.Val936=)
|
|
|
NM_198576.4(AGRN):c.2824G>A (p.Val942Ile)
|
|
|
NM_198576.4(AGRN):c.2833G>A (p.Gly945Ser)
|
rs911274904
|
|
NM_198576.4(AGRN):c.2859C>T (p.Ile953=)
|
|
|
NM_198576.4(AGRN):c.2861C>T (p.Ala954Val)
|
rs2100657779
|
|
NM_198576.4(AGRN):c.2877G>A (p.Leu959=)
|
|
|
NM_198576.4(AGRN):c.2877G>T (p.Leu959=)
|
|
|
NM_198576.4(AGRN):c.2882T>A (p.Ile961Asn)
|
rs2100657894
|
|
NM_198576.4(AGRN):c.2883C>T (p.Ile961=)
|
rs1243145715
|
|
NM_198576.4(AGRN):c.2889C>T (p.Ile963=)
|
|
|
NM_198576.4(AGRN):c.288C>T (p.Gly96=)
|
|
|
NM_198576.4(AGRN):c.2894G>A (p.Ser965Asn)
|
rs779593673
|
|
NM_198576.4(AGRN):c.28C>A (p.Leu10Met)
|
rs1226970553
|
|
NM_198576.4(AGRN):c.28C>T (p.Leu10=)
|
rs1226970553
|
|
NM_198576.4(AGRN):c.2904G>A (p.Pro968=)
|
rs761226422
|
|
NM_198576.4(AGRN):c.2904G>C (p.Pro968=)
|
rs761226422
|
|
NM_198576.4(AGRN):c.2908C>G (p.Gln970Glu)
|
rs1645090139
|
|
NM_198576.4(AGRN):c.2911+12C>T
|
|
|
NM_198576.4(AGRN):c.2922T>C (p.Ala974=)
|
|
|
NM_198576.4(AGRN):c.2925C>T (p.Pro975=)
|
|
|
NM_198576.4(AGRN):c.2937G>A (p.Pro979=)
|
rs752408613
|
|
NM_198576.4(AGRN):c.2941T>C (p.Ser981Pro)
|
rs1645095834
|
|
NM_198576.4(AGRN):c.2943T>C (p.Ser981=)
|
rs1645095961
|
|
NM_198576.4(AGRN):c.2949C>G (p.Ser983=)
|
rs757512885
|
|
NM_198576.4(AGRN):c.2949C>T (p.Ser983=)
|
rs757512885
|
|
NM_198576.4(AGRN):c.2956G>A (p.Val986Met)
|
|
|
NM_198576.4(AGRN):c.2967A>G (p.Pro989=)
|
|
|
NM_198576.4(AGRN):c.298C>T (p.Pro100Ser)
|
rs773486550
|
|
NM_198576.4(AGRN):c.2993C>A (p.Pro998Gln)
|
|
|
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr)
|
rs752212460
|
|
NM_198576.4(AGRN):c.3001C>G (p.Pro1001Ala)
|
|
|
NM_198576.4(AGRN):c.3001C>T (p.Pro1001Ser)
|
rs752212460
|
|
NM_198576.4(AGRN):c.3003dup (p.Gly1002fs)
|
rs763573703
|
|
NM_198576.4(AGRN):c.3004G>C (p.Gly1002Arg)
|
rs757677789
|
|
NM_198576.4(AGRN):c.3014C>T (p.Pro1005Leu)
|
|
|
NM_198576.4(AGRN):c.3015C>T (p.Pro1005=)
|
rs547720389
|
|
NM_198576.4(AGRN):c.3034G>C (p.Ala1012Pro)
|
|
|
NM_198576.4(AGRN):c.3039C>T (p.His1013=)
|
rs549843700
|
|
NM_198576.4(AGRN):c.3046A>G (p.Thr1016Ala)
|
rs1553176512
|
|
NM_198576.4(AGRN):c.3064T>A (p.Ser1022Thr)
|
|
|
NM_198576.4(AGRN):c.3065_3066inv (p.Ser1022Leu)
|
|
|
NM_198576.4(AGRN):c.3073C>T (p.Arg1025Trp)
|
|
|
NM_198576.4(AGRN):c.3081T>G (p.Thr1027=)
|
|
|
NM_198576.4(AGRN):c.3083C>G (p.Ala1028Gly)
|
rs1645101488
|
|
NM_198576.4(AGRN):c.3083_3103dup (p.Ala1028_Thr1034dup)
|
rs1205084879
|
|
NM_198576.4(AGRN):c.3087C>A (p.Ser1029Arg)
|
|
|
NM_198576.4(AGRN):c.3094A>G (p.Arg1032Gly)
|
|
|
NM_198576.4(AGRN):c.3104T>C (p.Val1035Ala)
|
rs1292494843
|
|
NM_198576.4(AGRN):c.3106_3108del (p.Trp1036del)
|
|
|
NM_198576.4(AGRN):c.3107G>T (p.Trp1036Leu)
|
|
|
NM_198576.4(AGRN):c.3112G>A (p.Val1038Met)
|
|
|
NM_198576.4(AGRN):c.3117G>C (p.Leu1039=)
|
|
|
NM_198576.4(AGRN):c.3120G>A (p.Thr1040=)
|
rs747197185
|
|
NM_198576.4(AGRN):c.3120G>C (p.Thr1040=)
|
rs747197185
|
|
NM_198576.4(AGRN):c.3129C>A (p.Pro1043=)
|
rs1570224825
|
|
NM_198576.4(AGRN):c.3131C>T (p.Thr1044Met)
|
|
|
NM_198576.4(AGRN):c.3153C>T (p.Ser1051=)
|
rs1367992401
|
|
NM_198576.4(AGRN):c.3162G>C (p.Ala1054=)
|
|
|
NM_198576.4(AGRN):c.3187A>G (p.Thr1063Ala)
|
|
|
NM_198576.4(AGRN):c.318G>A (p.Gln106=)
|
|
|
NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu)
|
rs1570225219
|
|
NM_198576.4(AGRN):c.3202G>A (p.Asp1068Asn)
|
|
|
NM_198576.4(AGRN):c.3205G>A (p.Glu1069Lys)
|
|
|
NM_198576.4(AGRN):c.3211C>T (p.Leu1071=)
|
|
|
NM_198576.4(AGRN):c.3217G>A (p.Gly1073Arg)
|
|
|
NM_198576.4(AGRN):c.3220G>A (p.Asp1074Asn)
|
rs1645106250
|
|
NM_198576.4(AGRN):c.3229del (p.Ala1077fs)
|
|
|
NM_198576.4(AGRN):c.3250+6C>T
|
rs1645107309
|
|
NM_198576.4(AGRN):c.3251-12G>C
|
|
|
NM_198576.4(AGRN):c.3251-7T>G
|
rs1570225831
|
|
NM_198576.4(AGRN):c.3255C>A (p.Leu1085=)
|
rs775823409
|
|
NM_198576.4(AGRN):c.3255C>G (p.Leu1085=)
|
|
|
NM_198576.4(AGRN):c.3258G>T (p.Glu1086Asp)
|
|
|
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe)
|
rs150132566
|
|
NM_198576.4(AGRN):c.3264G>T (p.Leu1088Phe)
|
rs150132566
|
|
NM_198576.4(AGRN):c.3271A>G (p.Ser1091Gly)
|
|
|
NM_198576.4(AGRN):c.3272G>A (p.Ser1091Asn)
|
rs977284297
|
|
NM_198576.4(AGRN):c.3292C>A (p.Pro1098Thr)
|
rs1431057237
|
|
NM_198576.4(AGRN):c.32G>A (p.Arg11Gln)
|
|
|
NM_198576.4(AGRN):c.32_40del (p.Arg11_Leu13del)
|
|
|
NM_198576.4(AGRN):c.3316T>C (p.Tyr1106His)
|
|
|
NM_198576.4(AGRN):c.3318C>T (p.Tyr1106=)
|
rs2100661340
|
|
NM_198576.4(AGRN):c.3326C>T (p.Ala1109Val)
|
|
|
NM_198576.4(AGRN):c.3328T>A (p.Leu1110Met)
|
rs1297179716
|
|
NM_198576.4(AGRN):c.3343G>A (p.Asp1115Asn)
|
rs1645113298
|
|
NM_198576.4(AGRN):c.3353C>T (p.Thr1118Met)
|
rs149159118
|
|
NM_198576.4(AGRN):c.3359C>T (p.Ser1120Leu)
|
|
|
NM_198576.4(AGRN):c.3370G>C (p.Glu1124Gln)
|
|
|
NM_198576.4(AGRN):c.3389-16T>C
|
|
|
NM_198576.4(AGRN):c.3389-3C>T
|
rs1350989602
|
|
NM_198576.4(AGRN):c.3399G>A (p.Val1133=)
|
|
|
NM_198576.4(AGRN):c.339G>A (p.Arg113=)
|
rs1325478476
|
|
NM_198576.4(AGRN):c.3412C>T (p.Leu1138=)
|
|
|
NM_198576.4(AGRN):c.3418C>T (p.Leu1140=)
|
|
|
NM_198576.4(AGRN):c.3426C>T (p.Gly1142=)
|
|
|
NM_198576.4(AGRN):c.3427G>A (p.Val1143Ile)
|
|
|
NM_198576.4(AGRN):c.3430G>C (p.Glu1144Gln)
|
|
|
NM_198576.4(AGRN):c.3435C>T (p.Gly1145=)
|
rs1231692850
|
|
NM_198576.4(AGRN):c.3447C>T (p.Phe1149=)
|
rs771731587
|
|
NM_198576.4(AGRN):c.3470C>T (p.Pro1157Leu)
|
rs2100663740
|
|
NM_198576.4(AGRN):c.3473A>G (p.Lys1158Arg)
|
|
|
NM_198576.4(AGRN):c.3485T>C (p.Phe1162Ser)
|
|
|
NM_198576.4(AGRN):c.3486C>T (p.Phe1162=)
|
rs752179442
|
|
NM_198576.4(AGRN):c.3487G>A (p.Gly1163Arg)
|
rs1390460146
|
|
NM_198576.4(AGRN):c.3489G>C (p.Gly1163=)
|
|
|
NM_198576.4(AGRN):c.3497_3500del (p.Ala1166fs)
|
|
|
NM_198576.4(AGRN):c.34C>T (p.Pro12Ser)
|
|
|
NM_198576.4(AGRN):c.3501G>A (p.Arg1167=)
|
rs745963689
|
|
NM_198576.4(AGRN):c.3501G>T (p.Arg1167Ser)
|
|
|
NM_198576.4(AGRN):c.3504C>T (p.Ser1168=)
|
|
|
NM_198576.4(AGRN):c.350T>C (p.Val117Ala)
|
rs2100563474
|
|
NM_198576.4(AGRN):c.3515C>A (p.Thr1172Asn)
|
rs375197922
|
|
NM_198576.4(AGRN):c.3516+13C>T
|
|
|
NM_198576.4(AGRN):c.3516+19C>A
|
|
|
NM_198576.4(AGRN):c.3516+9G>A
|
|
|
NM_198576.4(AGRN):c.3517-3C>T
|
rs2100664552
|
|
NM_198576.4(AGRN):c.3523_3524delinsAG (p.Asp1175Ser)
|
rs2100664623
|
|
NM_198576.4(AGRN):c.3525C>T (p.Asp1175=)
|
rs1157889544
|
|
NM_198576.4(AGRN):c.3539C>T (p.Ser1180Leu)
|
rs1645136422
|
|
NM_198576.4(AGRN):c.3542A>G (p.Asp1181Gly)
|
rs2100664751
|
|
NM_198576.4(AGRN):c.3561G>C (p.Arg1187=)
|
|
|
NM_198576.4(AGRN):c.3568C>T (p.Arg1190Cys)
|
rs766825692
|
|
NM_198576.4(AGRN):c.3569G>C (p.Arg1190Pro)
|
rs149762107
|
|
NM_198576.4(AGRN):c.3574C>T (p.Arg1192Trp)
|
rs565447598
|
|
NM_198576.4(AGRN):c.3579C>G (p.Asp1193Glu)
|
rs924458131
|
|
NM_198576.4(AGRN):c.3580C>T (p.Leu1194=)
|
|
|
NM_198576.4(AGRN):c.3585G>A (p.Gly1195=)
|
rs2100665007
|
|
NM_198576.4(AGRN):c.3597C>T (p.Ser1199=)
|
|
|
NM_198576.4(AGRN):c.3598G>T (p.Val1200Phe)
|
rs755901578
|
|
NM_198576.4(AGRN):c.359C>T (p.Ala120Val)
|
|
|
NM_198576.4(AGRN):c.3608T>C (p.Ile1203Thr)
|
|
|
NM_198576.4(AGRN):c.3619C>T (p.His1207Tyr)
|
rs2100665199
|
|
NM_198576.4(AGRN):c.3621C>T (p.His1207=)
|
|
|
NM_198576.4(AGRN):c.362C>A (p.Pro121His)
|
rs533320704
|
|
NM_198576.4(AGRN):c.3631+10G>C
|
rs1645139691
|
|
NM_198576.4(AGRN):c.3631+8C>T
|
rs1222277685
|
|
NM_198576.4(AGRN):c.3632-16G>C
|
|
|
NM_198576.4(AGRN):c.3632-1G>C
|
|
|
NM_198576.4(AGRN):c.3632-2del
|
|
|
NM_198576.4(AGRN):c.3632-4C>G
|
rs370599253
|
|
NM_198576.4(AGRN):c.3638C>A (p.Ala1213Asp)
|
rs2100665678
|
|
NM_198576.4(AGRN):c.3645G>A (p.Arg1215=)
|
rs2100665696
|
|
NM_198576.4(AGRN):c.3666C>A (p.Ala1222=)
|
|
|
NM_198576.4(AGRN):c.3685G>A (p.Val1229Met)
|
rs528146665
|
|
NM_198576.4(AGRN):c.3694C>A (p.Arg1232Ser)
|
rs777331097
|
|
NM_198576.4(AGRN):c.3695G>A (p.Arg1232His)
|
rs746435538
|
|
NM_198576.4(AGRN):c.36G>A (p.Pro12=)
|
|
|
NM_198576.4(AGRN):c.36G>C (p.Pro12=)
|
rs1181200410
|
|
NM_198576.4(AGRN):c.3701C>T (p.Ser1234Phe)
|
rs1433503299
|
|
NM_198576.4(AGRN):c.3716G>A (p.Arg1239Gln)
|
|
|
NM_198576.4(AGRN):c.3719C>A (p.Pro1240Gln)
|
rs142620337
|
|
NM_198576.4(AGRN):c.371T>C (p.Leu124Pro)
|
rs1644425409
|
|
NM_198576.4(AGRN):c.3724C>T (p.Gln1242Ter)
|
rs2100666336
|
|
NM_198576.4(AGRN):c.3735G>A (p.Val1245=)
|
rs2100666417
|
|
NM_198576.4(AGRN):c.3740T>C (p.Phe1247Ser)
|
|
|
NM_198576.4(AGRN):c.3751+10A>G
|
|
|
NM_198576.4(AGRN):c.3751+16C>T
|
|
|
NM_198576.4(AGRN):c.3751+17G>C
|
|
|
NM_198576.4(AGRN):c.3751+20C>A
|
|
|
NM_198576.4(AGRN):c.3751+6C>T
|
rs756678012
|
|
NM_198576.4(AGRN):c.3751+7G>A
|
rs780934260
|
|
NM_198576.4(AGRN):c.3760C>T (p.Pro1254Ser)
|
rs1207410103
|
|
NM_198576.4(AGRN):c.3761C>T (p.Pro1254Leu)
|
rs2100667321
|
|
NM_198576.4(AGRN):c.3790G>T (p.Ala1264Ser)
|
|
|
NM_198576.4(AGRN):c.37C>G (p.Leu13Val)
|
rs2100555271
|
|
NM_198576.4(AGRN):c.3800C>T (p.Ala1267Val)
|
|
|
NM_198576.4(AGRN):c.3806C>A (p.Ala1269Asp)
|
|
|
NM_198576.4(AGRN):c.380C>T (p.Ala127Val)
|
rs755949709
|
|
NM_198576.4(AGRN):c.3815G>A (p.Arg1272Lys)
|
rs1570232895
|
|
NM_198576.4(AGRN):c.3816A>C (p.Arg1272Ser)
|
|
|
NM_198576.4(AGRN):c.3821C>A (p.Thr1274Asn)
|
rs1645153244
|
|
NM_198576.4(AGRN):c.3825T>C (p.Thr1275=)
|
|
|
NM_198576.4(AGRN):c.3833G>T (p.Arg1278Leu)
|
rs542631667
|
|
NM_198576.4(AGRN):c.3844T>C (p.Ser1282Pro)
|
rs1557714258
|
|
NM_198576.4(AGRN):c.3864C>T (p.Ala1288=)
|
|
|
NM_198576.4(AGRN):c.3865C>T (p.Pro1289Ser)
|
rs2100668078
|
|
NM_198576.4(AGRN):c.3870C>A (p.His1290Gln)
|
rs1645155187
|
|
NM_198576.4(AGRN):c.3916A>G (p.Thr1306Ala)
|
|
|
NM_198576.4(AGRN):c.3922C>G (p.Arg1308Gly)
|
|
|
NM_198576.4(AGRN):c.3923G>A (p.Arg1308His)
|
rs771823174
|
|
NM_198576.4(AGRN):c.3923G>T (p.Arg1308Leu)
|
rs771823174
|
|
NM_198576.4(AGRN):c.3933C>T (p.Pro1311=)
|
|
|
NM_198576.4(AGRN):c.3936C>G (p.Thr1312=)
|
rs775175131
|
|
NM_198576.4(AGRN):c.3948C>T (p.Ser1316=)
|
|
|
NM_198576.4(AGRN):c.3957C>T (p.Pro1319=)
|
|
|
NM_198576.4(AGRN):c.3965G>A (p.Arg1322Gln)
|
|
|
NM_198576.4(AGRN):c.3974C>G (p.Ala1325Gly)
|
rs745406424
|
|
NM_198576.4(AGRN):c.3975C>A (p.Ala1325=)
|
rs769321224
|
|
NM_198576.4(AGRN):c.3980A>G (p.Gln1327Arg)
|
|
|
NM_198576.4(AGRN):c.3984G>A (p.Gln1328=)
|
rs866622340
|
|
NM_198576.4(AGRN):c.39_47dup (p.12_14PLL[3])
|
rs1196847979
|
|
NM_198576.4(AGRN):c.4013G>T (p.Cys1338Phe)
|
|
|
NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg)
|
rs372543866
|
|
NM_198576.4(AGRN):c.4021G>C (p.Gly1341Arg)
|
rs372543866
|
|
NM_198576.4(AGRN):c.403A>G (p.Asn135Asp)
|
|
|
NM_198576.4(AGRN):c.4044A>G (p.Ala1348=)
|
|
|
NM_198576.4(AGRN):c.405C>T (p.Asn135=)
|
rs1644426137
|
|
NM_198576.4(AGRN):c.4061C>T (p.Thr1354Ile)
|
|
|
NM_198576.4(AGRN):c.4062C>T (p.Thr1354=)
|
rs2100669683
|
|
NM_198576.4(AGRN):c.4089C>T (p.Gly1363=)
|
|
|
NM_198576.4(AGRN):c.4091C>T (p.Ala1364Val)
|
|
|
NM_198576.4(AGRN):c.4106-11G>A
|
|
|
NM_198576.4(AGRN):c.4106-14G>T
|
|
|
NM_198576.4(AGRN):c.4106-18C>T
|
rs919606136
|
|
NM_198576.4(AGRN):c.4106-3C>T
|
rs1304973610
|
|
NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu)
|
rs1057523585
|
|
NM_198576.4(AGRN):c.4131C>G (p.Phe1377Leu)
|
rs368555478
|
|
NM_198576.4(AGRN):c.4152C>T (p.Ala1384=)
|
|
|
NM_198576.4(AGRN):c.4158C>T (p.Pro1386=)
|
|
|
NM_198576.4(AGRN):c.4166G>A (p.Arg1389His)
|
|
|
NM_198576.4(AGRN):c.4183C>T (p.Arg1395Cys)
|
rs1015396973
|
|
NM_198576.4(AGRN):c.4200C>G (p.Phe1400Leu)
|
rs1570237178
|
|
NM_198576.4(AGRN):c.4206G>A (p.Ala1402=)
|
|
|
NM_198576.4(AGRN):c.4212G>C (p.Glu1404Asp)
|
|
|
NM_198576.4(AGRN):c.421A>C (p.Ile141Leu)
|
|
|
NM_198576.4(AGRN):c.4223T>G (p.Leu1408Arg)
|
|
|
NM_198576.4(AGRN):c.4225C>T (p.Leu1409=)
|
rs1181560428
|
|
NM_198576.4(AGRN):c.4227G>A (p.Leu1409=)
|
rs1378046777
|
|
NM_198576.4(AGRN):c.422T>C (p.Ile141Thr)
|
rs2100563748
|
|
NM_198576.4(AGRN):c.4234A>G (p.Asn1412Asp)
|
rs1435842060
|
|
NM_198576.4(AGRN):c.4236T>C (p.Asn1412=)
|
rs768957231
|
|
NM_198576.4(AGRN):c.4237G>A (p.Gly1413Ser)
|
|
|
NM_198576.4(AGRN):c.4238G>A (p.Gly1413Asp)
|
rs2100673336
|
|
NM_198576.4(AGRN):c.4242C>T (p.Asn1414=)
|
|
|
NM_198576.4(AGRN):c.4244C>A (p.Ala1415Asp)
|
|
|
NM_198576.4(AGRN):c.4246C>T (p.Arg1416Trp)
|
|
|
NM_198576.4(AGRN):c.4247G>A (p.Arg1416Gln)
|
rs759552420
|
|
NM_198576.4(AGRN):c.4248G>A (p.Arg1416=)
|
|
|
NM_198576.4(AGRN):c.4248G>C (p.Arg1416=)
|
rs1251852499
|
|
NM_198576.4(AGRN):c.4250G>A (p.Gly1417Asp)
|
|
|
NM_198576.4(AGRN):c.4260C>T (p.Phe1420=)
|
rs985182576
|
|
NM_198576.4(AGRN):c.4285C>A (p.Arg1429Ser)
|
rs201346452
|
|
NM_198576.4(AGRN):c.4287C>G (p.Arg1429=)
|
rs540390242
|
|
NM_198576.4(AGRN):c.4287C>T (p.Arg1429=)
|
rs540390242
|
|
NM_198576.4(AGRN):c.4297A>G (p.Arg1433Gly)
|
rs1645188866
|
|
NM_198576.4(AGRN):c.4298+16A>G
|
rs1218750135
|
|
NM_198576.4(AGRN):c.4298+16del
|
|
|
NM_198576.4(AGRN):c.4298+18G>A
|
rs531723104
|
|
NM_198576.4(AGRN):c.4298+18G>C
|
rs531723104
|
|
NM_198576.4(AGRN):c.4298+18G>T
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGAGGGGGGGG
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG
|
|
|
NM_198576.4(AGRN):c.4298+21_4298+55del
|
rs1156907002
|
|
NM_198576.4(AGRN):c.4298+21_4298+55dup
|
rs1156907002
|
|
NM_198576.4(AGRN):c.4298+21del
|
rs759046825
|
|
NM_198576.4(AGRN):c.4298+22_4298+58del
|
rs769295738
|
|
NM_198576.4(AGRN):c.4298+41_4298+88del
|
rs776309511
|
|
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
|
|
|
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
|
|
|
NM_198576.4(AGRN):c.4298+6_4298+88del
|
rs1553177542
|
|
NM_198576.4(AGRN):c.4298+7GGGGA[3]
|
rs1333053420
|
|
NM_198576.4(AGRN):c.4298+9G>C
|
|
|
NM_198576.4(AGRN):c.4299-14G>C
|
|
|
NM_198576.4(AGRN):c.4299-5C>G
|
|
|
NM_198576.4(AGRN):c.4305C>T (p.Asp1435=)
|
rs1225701192
|
|
NM_198576.4(AGRN):c.4310G>A (p.Gly1437Asp)
|
rs1645200273
|
|
NM_198576.4(AGRN):c.431G>A (p.Arg144Gln)
|
rs760143672
|
|
NM_198576.4(AGRN):c.4322C>T (p.Ala1441Val)
|
|
|
NM_198576.4(AGRN):c.4335T>C (p.Ser1445=)
|
|
|
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met)
|
rs201436229
|
|
NM_198576.4(AGRN):c.4339G>T (p.Val1447Leu)
|
|
|
NM_198576.4(AGRN):c.4344G>A (p.Pro1448=)
|
rs1321979292
|
|
NM_198576.4(AGRN):c.4348G>A (p.Glu1450Lys)
|
|
|
NM_198576.4(AGRN):c.4356C>A (p.Gly1452=)
|
rs2100675922
|
|
NM_198576.4(AGRN):c.4366C>T (p.Arg1456Cys)
|
rs749059305
|
|
NM_198576.4(AGRN):c.4379C>A (p.Ser1460Tyr)
|
rs1553177633
|
|
NM_198576.4(AGRN):c.4382G>A (p.Arg1461Gln)
|
|
|
NM_198576.4(AGRN):c.4385A>G (p.His1462Arg)
|
rs1478532829
|
|
NM_198576.4(AGRN):c.4389G>A (p.Trp1463Ter)
|
|
|
NM_198576.4(AGRN):c.4390C>T (p.Arg1464Cys)
|
|
|
NM_198576.4(AGRN):c.4397G>C (p.Gly1466Ala)
|
rs1436879072
|
|
NM_198576.4(AGRN):c.4397G>T (p.Gly1466Val)
|
|
|
NM_198576.4(AGRN):c.4398C>T (p.Gly1466=)
|
|
|
NM_198576.4(AGRN):c.4406C>G (p.Ser1469Trp)
|
rs200646795
|
|
NM_198576.4(AGRN):c.4410G>T (p.Val1470=)
|
|
|
NM_198576.4(AGRN):c.4414G>T (p.Gly1472Cys)
|
|
|
NM_198576.4(AGRN):c.4420A>T (p.Thr1474Ser)
|
|
|
NM_198576.4(AGRN):c.4423C>T (p.Pro1475Ser)
|
rs1645204517
|
|
NM_198576.4(AGRN):c.4432G>A (p.Gly1478Ser)
|
|
|
NM_198576.4(AGRN):c.4434C>T (p.Gly1478=)
|
rs372592323
|
|
NM_198576.4(AGRN):c.4450A>G (p.Thr1484Ala)
|
rs2100676449
|
|
NM_198576.4(AGRN):c.4458C>T (p.Gly1486=)
|
rs1286044353
|
|
NM_198576.4(AGRN):c.4464C>T (p.Asn1488=)
|
|
|
NM_198576.4(AGRN):c.4488C>A (p.Gly1496=)
|
rs748221306
|
|
NM_198576.4(AGRN):c.4497C>T (p.Pro1499=)
|
|
|
NM_198576.4(AGRN):c.4498G>A (p.Glu1500Lys)
|
|
|
NM_198576.4(AGRN):c.44C>T (p.Pro15Leu)
|
rs764659938
|
|
NM_198576.4(AGRN):c.44_45delinsGT (p.Pro15Arg)
|
rs1553170743
|
|
NM_198576.4(AGRN):c.4506G>A (p.Gln1502=)
|
|
|
NM_198576.4(AGRN):c.4507G>A (p.Ala1503Thr)
|
rs1237992098
|
|
NM_198576.4(AGRN):c.4514+10_4514+29del
|
rs1645207851
|
|
NM_198576.4(AGRN):c.4514+12G>A
|
|
|
NM_198576.4(AGRN):c.4514+15G>A
|
|
|
NM_198576.4(AGRN):c.4514+16G>A
|
|
|
NM_198576.4(AGRN):c.4514+16_4514+17delinsCA
|
rs2100676874
|
|
NM_198576.4(AGRN):c.4514+20G>A
|
rs1335698044
|
|
NM_198576.4(AGRN):c.4514+8C>T
|
|
|
NM_198576.4(AGRN):c.4515-10C>T
|
rs2100677405
|
|
NM_198576.4(AGRN):c.4515-11C>T
|
|
|
NM_198576.4(AGRN):c.4515-17G>A
|
|
|
NM_198576.4(AGRN):c.4515-20G>A
|
rs370560913
|
|
NM_198576.4(AGRN):c.4525C>T (p.Arg1509Trp)
|
|
|
NM_198576.4(AGRN):c.4533C>T (p.Phe1511=)
|
|
|
NM_198576.4(AGRN):c.4537G>C (p.Gly1513Arg)
|
|
|
NM_198576.4(AGRN):c.4539C>T (p.Gly1513=)
|
|
|
NM_198576.4(AGRN):c.4546C>T (p.Leu1516=)
|
rs1645213379
|
|
NM_198576.4(AGRN):c.4567C>T (p.Leu1523=)
|
rs1470474265
|
|
NM_198576.4(AGRN):c.4588C>T (p.Leu1530=)
|
|
|
NM_198576.4(AGRN):c.4590G>A (p.Leu1530=)
|
|
|
NM_198576.4(AGRN):c.4607C>T (p.Pro1536Leu)
|
|
|
NM_198576.4(AGRN):c.4626C>T (p.Gly1542=)
|
rs1420757030
|
|
NM_198576.4(AGRN):c.463+10G>T
|
|
|
NM_198576.4(AGRN):c.463+16C>T
|
|
|
NM_198576.4(AGRN):c.463+17del
|
|
|
NM_198576.4(AGRN):c.4632C>T (p.Gly1544=)
|
|
|
NM_198576.4(AGRN):c.464-14T>G
|
|
|
NM_198576.4(AGRN):c.464-2A>G
|
|
|
NM_198576.4(AGRN):c.464-4C>T
|
rs1467185700
|
|
NM_198576.4(AGRN):c.4644C>G (p.Cys1548Trp)
|
|
|
NM_198576.4(AGRN):c.4652A>G (p.His1551Arg)
|
rs377529093
|
|
NM_198576.4(AGRN):c.4665C>T (p.Pro1555=)
|
|
|
NM_198576.4(AGRN):c.4681G>A (p.Gly1561Arg)
|
|
|
NM_198576.4(AGRN):c.4683G>T (p.Gly1561=)
|
|
|
NM_198576.4(AGRN):c.4708G>A (p.Gly1570Arg)
|
|
|
NM_198576.4(AGRN):c.4713G>A (p.Arg1571=)
|
rs752191523
|
|
NM_198576.4(AGRN):c.4713G>T (p.Arg1571Ser)
|
|
|
NM_198576.4(AGRN):c.4716C>T (p.Phe1572=)
|
|
|
NM_198576.4(AGRN):c.4728C>G (p.Cys1576Trp)
|
rs931498089
|
|
NM_198576.4(AGRN):c.4732C>T (p.Pro1578Ser)
|
rs1645221054
|
|
NM_198576.4(AGRN):c.4734C>A (p.Pro1578=)
|
|
|
NM_198576.4(AGRN):c.4739G>A (p.Arg1580His)
|
|
|
NM_198576.4(AGRN):c.4739G>T (p.Arg1580Leu)
|
rs780013869
|
|
NM_198576.4(AGRN):c.4744+15G>A
|
|
|
NM_198576.4(AGRN):c.4744+15G>C
|
|
|
NM_198576.4(AGRN):c.4744+20G>A
|
|
|
NM_198576.4(AGRN):c.4744+6_4744+26dup
|
|
|
NM_198576.4(AGRN):c.4745-11C>T
|
|
|
NM_198576.4(AGRN):c.4745-14C>T
|
|
|
NM_198576.4(AGRN):c.4745-16G>A
|
|
|
NM_198576.4(AGRN):c.4745-19C>T
|
|
|
NM_198576.4(AGRN):c.4745-8C>T
|
rs2100679597
|
|
NM_198576.4(AGRN):c.4745G>C (p.Gly1582Ala)
|
rs202069635
|
|
NM_198576.4(AGRN):c.4752C>T (p.Thr1584=)
|
rs1645227009
|
|
NM_198576.4(AGRN):c.4769G>C (p.Ser1590Thr)
|
rs1645227970
|
|
NM_198576.4(AGRN):c.4770C>A (p.Ser1590Arg)
|
|
|
NM_198576.4(AGRN):c.4773C>T (p.Pro1591=)
|
rs1043129674
|
|
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del)
|
rs769494139
|
|
NM_198576.4(AGRN):c.4779_4793dup (p.Gln1593_Cys1597dup)
|
rs769494139
|
|
NM_198576.4(AGRN):c.478C>G (p.His160Asp)
|
rs752637758
|
|
NM_198576.4(AGRN):c.4790G>C (p.Cys1597Ser)
|
rs376955370
|
|
NM_198576.4(AGRN):c.4790G>T (p.Cys1597Phe)
|
rs376955370
|
|
NM_198576.4(AGRN):c.4803G>A (p.Ala1601=)
|
|
|
NM_198576.4(AGRN):c.480C>T (p.His160=)
|
|
|
NM_198576.4(AGRN):c.4810C>T (p.Arg1604Cys)
|
rs201353978
|
|
NM_198576.4(AGRN):c.483C>A (p.Phe161Leu)
|
rs192831476
|
|
NM_198576.4(AGRN):c.4844G>A (p.Cys1615Tyr)
|
rs1645231004
|
|
NM_198576.4(AGRN):c.484A>G (p.Thr162Ala)
|
rs1250043774
|
|
NM_198576.4(AGRN):c.4856G>A (p.Arg1619His)
|
rs753675816
|
|
NM_198576.4(AGRN):c.4879+3C>T
|
|
|
NM_198576.4(AGRN):c.4880-10C>T
|
rs779162517
|
|
NM_198576.4(AGRN):c.48C>T (p.Leu16=)
|
|
|
NM_198576.4(AGRN):c.4903C>T (p.Pro1635Ser)
|
rs2100681928
|
|
NM_198576.4(AGRN):c.4915G>T (p.Asp1639Tyr)
|
|
|
NM_198576.4(AGRN):c.4921A>G (p.Asn1641Asp)
|
rs1480378637
|
|
NM_198576.4(AGRN):c.4923C>T (p.Asn1641=)
|
|
|
NM_198576.4(AGRN):c.4926C>T (p.Gly1642=)
|
|
|
NM_198576.4(AGRN):c.4931C>G (p.Ser1644Cys)
|
rs753103771
|
|
NM_198576.4(AGRN):c.4932C>G (p.Ser1644=)
|
rs1398658899
|
|
NM_198576.4(AGRN):c.4947A>G (p.Arg1649=)
|
|
|
NM_198576.4(AGRN):c.4949G>T (p.Gly1650Val)
|
|
|
NM_198576.4(AGRN):c.4958C>T (p.Thr1653Ile)
|
rs775832705
|
|
NM_198576.4(AGRN):c.4959C>T (p.Thr1653=)
|
|
|
NM_198576.4(AGRN):c.4966C>A (p.Arg1656=)
|
rs145111679
|
|
NM_198576.4(AGRN):c.4966C>T (p.Arg1656Trp)
|
rs145111679
|
|
NM_198576.4(AGRN):c.4971C>T (p.Asp1657=)
|
|
|
NM_198576.4(AGRN):c.4973T>C (p.Leu1658Pro)
|
rs1645244659
|
|
NM_198576.4(AGRN):c.4976+10dup
|
rs747502112
|
|
NM_198576.4(AGRN):c.4976+14G>C
|
|
|
NM_198576.4(AGRN):c.4976+16G>A
|
|
|
NM_198576.4(AGRN):c.4976+4G>T
|
rs565518558
|
|
NM_198576.4(AGRN):c.4976+5G>C
|
rs1553177963
|
|
NM_198576.4(AGRN):c.4977-14C>T
|
rs1460578627
|
|
NM_198576.4(AGRN):c.4977-18G>A
|
|
|
NM_198576.4(AGRN):c.497C>T (p.Pro166Leu)
|
|
|
NM_198576.4(AGRN):c.4987G>A (p.Ala1663Thr)
|
|
|
NM_198576.4(AGRN):c.4996G>T (p.Val1666Phe)
|
rs17160775
|
|
NM_198576.4(AGRN):c.5001G>A (p.Val1667=)
|
|
|
NM_198576.4(AGRN):c.5009C>T (p.Ala1670Val)
|
|
|
NM_198576.4(AGRN):c.5011C>A (p.Arg1671=)
|
|
|
NM_198576.4(AGRN):c.5011C>G (p.Arg1671Gly)
|
|
|
NM_198576.4(AGRN):c.5011C>T (p.Arg1671Ter)
|
|
|
NM_198576.4(AGRN):c.5015G>A (p.Gly1672Asp)
|
rs1570244934
|
|
NM_198576.4(AGRN):c.5022C>T (p.Ser1674=)
|
|
|
NM_198576.4(AGRN):c.5032C>T (p.Leu1678Phe)
|
rs1479456891
|
|
NM_198576.4(AGRN):c.5038A>G (p.Asn1680Asp)
|
rs1557719897
|
|
NM_198576.4(AGRN):c.5048A>T (p.Lys1683Met)
|
|
|
NM_198576.4(AGRN):c.5050A>C (p.Thr1684Pro)
|
|
|
NM_198576.4(AGRN):c.5050_5052del (p.Thr1684del)
|
rs765397453
|
|
NM_198576.4(AGRN):c.5051C>T (p.Thr1684Met)
|
|
|
NM_198576.4(AGRN):c.5070C>G (p.Phe1690Leu)
|
|
|
NM_198576.4(AGRN):c.5086C>T (p.Arg1696Trp)
|
rs201286940
|
|
NM_198576.4(AGRN):c.5092C>A (p.Arg1698Ser)
|
|
|
NM_198576.4(AGRN):c.5092C>G (p.Arg1698Gly)
|
rs771576402
|
|
NM_198576.4(AGRN):c.5092C>T (p.Arg1698Cys)
|
|
|
NM_198576.4(AGRN):c.5107C>G (p.Arg1703Gly)
|
|
|
NM_198576.4(AGRN):c.5108G>A (p.Arg1703His)
|
rs371946683
|
|
NM_198576.4(AGRN):c.5108G>T (p.Arg1703Leu)
|
|
|
NM_198576.4(AGRN):c.511+19G>A
|
|
|
NM_198576.4(AGRN):c.5112C>T (p.Tyr1704=)
|
|
|
NM_198576.4(AGRN):c.5119G>A (p.Gly1707Ser)
|
|
|
NM_198576.4(AGRN):c.512-11A>C
|
|
|
NM_198576.4(AGRN):c.512-14C>G
|
rs1557699288
|
|
NM_198576.4(AGRN):c.512-16C>G
|
|
|
NM_198576.4(AGRN):c.512-7G>C
|
|
|
NM_198576.4(AGRN):c.512-8C>T
|
rs1644904685
|
|
NM_198576.4(AGRN):c.5120G>A (p.Gly1707Asp)
|
|
|
NM_198576.4(AGRN):c.5121C>T (p.Gly1707=)
|
rs1457021881
|
|
NM_198576.4(AGRN):c.5124G>T (p.Lys1708Asn)
|
|
|
NM_198576.4(AGRN):c.512C>T (p.Ala171Val)
|
|
|
NM_198576.4(AGRN):c.5132C>T (p.Ala1711Val)
|
|
|
NM_198576.4(AGRN):c.513G>A (p.Ala171=)
|
|
|
NM_198576.4(AGRN):c.5141+4G>A
|
rs2100683834
|
|
NM_198576.4(AGRN):c.5141+5G>T
|
rs778508611
|
|
NM_198576.4(AGRN):c.5141+8G>A
|
|
|
NM_198576.4(AGRN):c.5142-10T>C
|
|
|
NM_198576.4(AGRN):c.5142-11C>T
|
|
|
NM_198576.4(AGRN):c.5142-13C>T
|
|
|
NM_198576.4(AGRN):c.5142-9C>G
|
rs371589437
|
|
NM_198576.4(AGRN):c.5146A>G (p.Arg1716Gly)
|
rs1022796152
|
|
NM_198576.4(AGRN):c.5153C>T (p.Pro1718Leu)
|
rs1570246147
|
|
NM_198576.4(AGRN):c.5162T>C (p.Leu1721Pro)
|
|
|
NM_198576.4(AGRN):c.5170T>A (p.Trp1724Arg)
|
rs1448487408
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|
NM_198576.4(AGRN):c.5186T>C (p.Leu1729Pro)
|
rs2100684858
|
|
NM_198576.4(AGRN):c.5201G>C (p.Arg1734Pro)
|
rs145444272
|
|
NM_198576.4(AGRN):c.5201G>T (p.Arg1734Leu)
|
rs145444272
|
|
NM_198576.4(AGRN):c.5222G>T (p.Gly1741Val)
|
rs2100685108
|
|
NM_198576.4(AGRN):c.5224G>A (p.Asp1742Asn)
|
rs773290813
|
|
NM_198576.4(AGRN):c.5234G>A (p.Arg1745His)
|
|
|
NM_198576.4(AGRN):c.5241G>A (p.Leu1747=)
|
|
|
NM_198576.4(AGRN):c.5253+16C>T
|
|
|
NM_198576.4(AGRN):c.5253+17G>A
|
rs544870363
|
|
NM_198576.4(AGRN):c.5253+17G>T
|
|
|
NM_198576.4(AGRN):c.5253+18C>G
|
rs189784653
|
|
NM_198576.4(AGRN):c.5253+18C>T
|
rs189784653
|
|
NM_198576.4(AGRN):c.5253+19G>A
|
rs369428707
|
|
NM_198576.4(AGRN):c.5253+8C>T
|
|
|
NM_198576.4(AGRN):c.5253+9T>G
|
rs1328340844
|
|
NM_198576.4(AGRN):c.5253G>A (p.Pro1751=)
|
rs13303235
|
|
NM_198576.4(AGRN):c.5254-10G>A
|
|
|
NM_198576.4(AGRN):c.5254-10G>T
|
rs778226267
|
|
NM_198576.4(AGRN):c.5254-11C>T
|
|
|
NM_198576.4(AGRN):c.5254-12G>A
|
|
|
NM_198576.4(AGRN):c.5254-16C>A
|
rs546981001
|
|
NM_198576.4(AGRN):c.5259G>C (p.Pro1753=)
|
rs771715098
|
|
NM_198576.4(AGRN):c.5266G>A (p.Val1756Ile)
|
rs760176911
|
|
NM_198576.4(AGRN):c.5271C>A (p.Leu1757=)
|
|
|
NM_198576.4(AGRN):c.5273A>T (p.Asn1758Ile)
|
rs2100687539
|
|
NM_198576.4(AGRN):c.5286G>A (p.Pro1762=)
|
|
|
NM_198576.4(AGRN):c.5294T>C (p.Val1765Ala)
|
rs1645279656
|
|
NM_198576.4(AGRN):c.5305C>T (p.Pro1769Ser)
|
rs1446898012
|
|
NM_198576.4(AGRN):c.5307C>T (p.Pro1769=)
|
rs960113611
|
|
NM_198576.4(AGRN):c.5315_5317del (p.Ser1772del)
|
rs1302115581
|
|
NM_198576.4(AGRN):c.5325C>T (p.Ala1775=)
|
rs1645280773
|
|
NM_198576.4(AGRN):c.5328TGC[4] (p.Ala1779dup)
|
rs1645281090
|
|
NM_198576.4(AGRN):c.5331T>C (p.Ala1777=)
|
|
|
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr)
|
rs538792693
|
|
NM_198576.4(AGRN):c.5334T>C (p.Ala1778=)
|
rs1553178299
|
|
NM_198576.4(AGRN):c.5337C>G (p.Ala1779=)
|
|
|
NM_198576.4(AGRN):c.5353G>C (p.Asp1785His)
|
rs144245019
|
|
NM_198576.4(AGRN):c.5355C>T (p.Asp1785=)
|
rs372556198
|
|
NM_198576.4(AGRN):c.535_540del (p.Phe179_Gly180del)
|
|
|
NM_198576.4(AGRN):c.5370+11dup
|
rs1570248992
|
|
NM_198576.4(AGRN):c.5370+12C>T
|
|
|
NM_198576.4(AGRN):c.5370+17C>T
|
|
|
NM_198576.4(AGRN):c.5371-12C>T
|
|
|
NM_198576.4(AGRN):c.5371-15C>T
|
|
|
NM_198576.4(AGRN):c.5371-9G>C
|
|
|
NM_198576.4(AGRN):c.5372T>C (p.Val1791Ala)
|
rs2100688589
|
|
NM_198576.4(AGRN):c.5382A>G (p.Gly1794=)
|
|
|
NM_198576.4(AGRN):c.5388C>A (p.Arg1796=)
|
rs1490186105
|
|
NM_198576.4(AGRN):c.538G>C (p.Gly180Arg)
|
|
|
NM_198576.4(AGRN):c.5395C>G (p.Leu1799Val)
|
|
|
NM_198576.4(AGRN):c.53TGG[1] (p.Val19del)
|
rs1039651972
|
|
NM_198576.4(AGRN):c.5401C>T (p.Pro1801Ser)
|
rs2100688731
|
|
NM_198576.4(AGRN):c.5403G>A (p.Pro1801=)
|
|
|
NM_198576.4(AGRN):c.5409C>A (p.His1803Gln)
|
rs192987166
|
|
NM_198576.4(AGRN):c.5409C>T (p.His1803=)
|
rs192987166
|
|
NM_198576.4(AGRN):c.5433G>A (p.Thr1811=)
|
rs564987392
|
|
NM_198576.4(AGRN):c.543dup (p.Val182fs)
|
rs1425913203
|
|
NM_198576.4(AGRN):c.5441C>T (p.Ala1814Val)
|
rs544353964
|
|
NM_198576.4(AGRN):c.544G>A (p.Val182Met)
|
rs561344136
|
|
NM_198576.4(AGRN):c.5456C>T (p.Thr1819Ile)
|
rs72900459
|
|
NM_198576.4(AGRN):c.5458C>A (p.Arg1820=)
|
rs752720189
|
|
NM_198576.4(AGRN):c.5469C>A (p.Gly1823=)
|
rs2100689188
|
|
NM_198576.4(AGRN):c.5475C>T (p.Pro1825=)
|
|
|
NM_198576.4(AGRN):c.5493C>T (p.Ser1831=)
|
|
|
NM_198576.4(AGRN):c.5512G>A (p.Ala1838Thr)
|
|
|
NM_198576.4(AGRN):c.5516A>G (p.Tyr1839Cys)
|
rs1553178384
|
|
NM_198576.4(AGRN):c.5523C>T (p.Cys1841=)
|
rs764192209
|
|
NM_198576.4(AGRN):c.5524C>T (p.Leu1842=)
|
rs1570250021
|
|
NM_198576.4(AGRN):c.5526G>A (p.Leu1842=)
|
|
|
NM_198576.4(AGRN):c.5533G>A (p.Gly1845Arg)
|
rs750311204
|
|
NM_198576.4(AGRN):c.5541C>T (p.Phe1847=)
|
|
|
NM_198576.4(AGRN):c.5547A>C (p.Gly1849=)
|
rs569296472
|
|
NM_198576.4(AGRN):c.5550G>T (p.Pro1850=)
|
rs74045090
|
|
NM_198576.4(AGRN):c.5554_5555dup (p.Glu1853fs)
|
rs2100689699
|
|
NM_198576.4(AGRN):c.5555G>T (p.Cys1852Phe)
|
rs1645295133
|
|
NM_198576.4(AGRN):c.5556C>G (p.Cys1852Trp)
|
rs538293035
|
|
NM_198576.4(AGRN):c.5563+12A>C
|
rs757938137
|
|
NM_198576.4(AGRN):c.5563+12A>G
|
rs757938137
|
|
NM_198576.4(AGRN):c.5563+16G>C
|
rs1645295857
|
|
NM_198576.4(AGRN):c.5563+9G>A
|
rs1157313110
|
|
NM_198576.4(AGRN):c.5564-13G>T
|
|
|
NM_198576.4(AGRN):c.5574G>T (p.Glu1858Asp)
|
rs1645298543
|
|
NM_198576.4(AGRN):c.5583G>A (p.Ala1861=)
|
|
|
NM_198576.4(AGRN):c.5592G>C (p.Val1864=)
|
|
|
NM_198576.4(AGRN):c.5597C>A (p.Thr1866Asn)
|
|
|
NM_198576.4(AGRN):c.5614C>A (p.Arg1872=)
|
|
|
NM_198576.4(AGRN):c.5614C>T (p.Arg1872Trp)
|
rs751301380
|
|
NM_198576.4(AGRN):c.5616G>A (p.Arg1872=)
|
|
|
NM_198576.4(AGRN):c.5618C>G (p.Thr1873Ser)
|
|
|
NM_198576.4(AGRN):c.5622T>A (p.Phe1874Leu)
|
rs1645300315
|
|
NM_198576.4(AGRN):c.5637C>T (p.Asn1879=)
|
|
|
NM_198576.4(AGRN):c.5638G>A (p.Ala1880Thr)
|
|
|
NM_198576.4(AGRN):c.564G>A (p.Glu188=)
|
rs1412665148
|
|
NM_198576.4(AGRN):c.5651+16C>T
|
|
|
NM_198576.4(AGRN):c.5652-13C>G
|
|
|
NM_198576.4(AGRN):c.5652-14C>G
|
rs760795854
|
|
NM_198576.4(AGRN):c.5652-16G>T
|
|
|
NM_198576.4(AGRN):c.5652-16_5652-12dup
|
|
|
NM_198576.4(AGRN):c.5652-17T>C
|
rs2100699254
|
|
NM_198576.4(AGRN):c.5652-19C>T
|
|
|
NM_198576.4(AGRN):c.5652-4C>G
|
rs752622706
|
|
NM_198576.4(AGRN):c.5659G>A (p.Ala1887Thr)
|
rs1438398169
|
|
NM_198576.4(AGRN):c.565G>A (p.Gly189Arg)
|
rs1245517864
|
|
NM_198576.4(AGRN):c.5685G>A (p.Leu1895=)
|
rs1570259187
|
|
NM_198576.4(AGRN):c.5688C>T (p.Ser1896=)
|
rs998402421
|
|
NM_198576.4(AGRN):c.5694C>T (p.Arg1898=)
|
|
|
NM_198576.4(AGRN):c.5703del (p.Thr1902fs)
|
rs2100699601
|
|
NM_198576.4(AGRN):c.5706G>A (p.Thr1902=)
|
|
|
NM_198576.4(AGRN):c.570G>A (p.Pro190=)
|
|
|
NM_198576.4(AGRN):c.5725A>C (p.Ser1909Arg)
|
rs1553178845
|
|
NM_198576.4(AGRN):c.5738C>G (p.Thr1913Arg)
|
rs201604787
|
|
NM_198576.4(AGRN):c.5749G>C (p.Asp1917His)
|
|
|
NM_198576.4(AGRN):c.574C>G (p.Arg192Gly)
|
|
|
NM_198576.4(AGRN):c.574_578dup (p.Ser194fs)
|
rs1570190059
|
|
NM_198576.4(AGRN):c.5753_5754del (p.Tyr1918fs)
|
rs753401796
|
|
NM_198576.4(AGRN):c.5760A>G (p.Ala1920=)
|
|
|
NM_198576.4(AGRN):c.5820G>T (p.Val1940=)
|
|
|
NM_198576.4(AGRN):c.5835G>T (p.Val1945=)
|
|
|
NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu)
|
rs771364268
|
|
NM_198576.4(AGRN):c.5868G>A (p.Val1956=)
|
|
|
NM_198576.4(AGRN):c.5873A>G (p.His1958Arg)
|
|
|
NM_198576.4(AGRN):c.5876+13C>A
|
|
|
NM_198576.4(AGRN):c.5876+13C>T
|
|
|
NM_198576.4(AGRN):c.5876+15del
|
rs754506003
|
|
NM_198576.4(AGRN):c.5876+1G>A
|
rs532386334
|
|
NM_198576.4(AGRN):c.5877-10G>T
|
rs1280841796
|
|
NM_198576.4(AGRN):c.5877-11dup
|
|
|
NM_198576.4(AGRN):c.5877-17C>G
|
|
|
NM_198576.4(AGRN):c.5877-18C>T
|
|
|
NM_198576.4(AGRN):c.5877-19C>T
|
rs1397093198
|
|
NM_198576.4(AGRN):c.5883G>A (p.Gln1961=)
|
rs1210257970
|
|
NM_198576.4(AGRN):c.588C>G (p.Val196=)
|
|
|
NM_198576.4(AGRN):c.5901G>A (p.Gln1967=)
|
|
|
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp)
|
rs1473312060
|
|
NM_198576.4(AGRN):c.5917C>T (p.Pro1973Ser)
|
|
|
NM_198576.4(AGRN):c.5937G>A (p.Pro1979=)
|
rs147367021
|
|
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del)
|
rs749209897
|
|
NM_198576.4(AGRN):c.5942G>T (p.Gly1981Val)
|
rs2100702471
|
|
NM_198576.4(AGRN):c.5943C>T (p.Gly1981=)
|
|
|
NM_198576.4(AGRN):c.5954_5955delinsAT (p.Leu1985His)
|
|
|
NM_198576.4(AGRN):c.5965G>T (p.Gly1989Ter)
|
|
|
NM_198576.4(AGRN):c.5976G>A (p.Trp1992Ter)
|
rs776480996
|
|
NM_198576.4(AGRN):c.5976G>T (p.Trp1992Cys)
|
rs776480996
|
|
NM_198576.4(AGRN):c.5980+14G>A
|
rs1347143869
|
|
NM_198576.4(AGRN):c.5981-16A>G
|
rs2100703621
|
|
NM_198576.4(AGRN):c.5985C>G (p.Gly1995=)
|
rs956106393
|
|
NM_198576.4(AGRN):c.6006C>T (p.Gly2002=)
|
|
|
NM_198576.4(AGRN):c.6019A>G (p.Lys2007Glu)
|
rs1057522367
|
|
NM_198576.4(AGRN):c.601C>G (p.Pro201Ala)
|
|
|
NM_198576.4(AGRN):c.6020A>G (p.Lys2007Arg)
|
rs1645410114
|
|
NM_198576.4(AGRN):c.6035G>C (p.Gly2012Ala)
|
rs1645410786
|
|
NM_198576.4(AGRN):c.603G>C (p.Pro201=)
|
rs113184997
|
|
NM_198576.4(AGRN):c.603G>T (p.Pro201=)
|
rs113184997
|
|
NM_198576.4(AGRN):c.6048C>T (p.Cys2016=)
|
|
|
NM_198576.4(AGRN):c.6054G>T (p.Arg2018=)
|
rs754185719
|
|
NM_198576.4(AGRN):c.6057C>G (p.Asp2019Glu)
|
|
|
NM_198576.4(AGRN):c.6058G>A (p.Val2020Met)
|
|
|
NM_198576.4(AGRN):c.6059TGG[2] (p.Val2022del)
|
rs1645411691
|
|
NM_198576.4(AGRN):c.6071G>A (p.Arg2024Gln)
|
|
|
NM_198576.4(AGRN):c.6078G>A (p.Pro2026=)
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|
|
NM_198576.4(AGRN):c.6081G>A (p.Leu2027=)
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|
|
NM_198576.4(AGRN):c.608C>T (p.Pro203Leu)
|
rs2100629640
|
|
NM_198576.4(AGRN):c.6090G>A (p.Leu2030=)
|
|
|
NM_198576.4(AGRN):c.6094G>A (p.Asp2032Asn)
|
|
|
NM_198576.4(AGRN):c.6099C>T (p.Ala2033=)
|
|
|
NM_198576.4(AGRN):c.6115C>T (p.Leu2039=)
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|
|
NM_198576.4(AGRN):c.6117G>A (p.Leu2039=)
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|
|
NM_198576.4(AGRN):c.6129C>T (p.Pro2043=)
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|
|
NM_198576.4(AGRN):c.61G>T (p.Ala21Ser)
|
|
|
NM_198576.4(AGRN):c.620C>A (p.Ala207Glu)
|
|
|
NM_198576.4(AGRN):c.623C>T (p.Pro208Leu)
|
rs1644908404
|
|
NM_198576.4(AGRN):c.636G>A (p.Ser212=)
|
|
|
NM_198576.4(AGRN):c.63G>C (p.Ala21=)
|
rs1293740544
|
|
NM_198576.4(AGRN):c.63G>T (p.Ala21=)
|
|
|
NM_198576.4(AGRN):c.642C>T (p.Ala214=)
|
|
|
NM_198576.4(AGRN):c.650A>G (p.Tyr217Cys)
|
rs2100629904
|
|
NM_198576.4(AGRN):c.658G>C (p.Glu220Gln)
|
rs2100629952
|
|
NM_198576.4(AGRN):c.65G>A (p.Cys22Tyr)
|
rs2100555461
|
|
NM_198576.4(AGRN):c.667dup (p.Leu223fs)
|
rs1644909838
|
|
NM_198576.4(AGRN):c.676G>T (p.Ala226Ser)
|
rs1449784681
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|
NM_198576.4(AGRN):c.678G>A (p.Ala226=)
|
|
|
NM_198576.4(AGRN):c.696C>T (p.Arg232=)
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|
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NM_198576.4(AGRN):c.697C>G (p.Arg233Gly)
|
|
|
NM_198576.4(AGRN):c.700A>G (p.Ile234Val)
|
rs1644910909
|
|
NM_198576.4(AGRN):c.706C>T (p.Leu236=)
|
rs2100630284
|
|
NM_198576.4(AGRN):c.711C>G (p.Leu237=)
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|
|
NM_198576.4(AGRN):c.717C>G (p.Arg239=)
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|
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NM_198576.4(AGRN):c.718G>A (p.Gly240Arg)
|
rs754282794
|
|
NM_198576.4(AGRN):c.718G>T (p.Gly240Trp)
|
rs754282794
|
|
NM_198576.4(AGRN):c.723G>A (p.Pro241=)
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|
|
NM_198576.4(AGRN):c.727+11C>T
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NM_198576.4(AGRN):c.727+16_727+33del
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NM_198576.4(AGRN):c.727+19G>C
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|
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NM_198576.4(AGRN):c.727+20T>A
|
|
|
NM_198576.4(AGRN):c.728-5C>T
|
rs2100632585
|
|
NM_198576.4(AGRN):c.733C>A (p.Arg245=)
|
rs750017108
|
|
NM_198576.4(AGRN):c.741C>T (p.Pro247=)
|
rs1401707372
|
|
NM_198576.4(AGRN):c.749A>T (p.Asn250Ile)
|
|
|
NM_198576.4(AGRN):c.750C>G (p.Asn250Lys)
|
rs1644924796
|
|
NM_198576.4(AGRN):c.751G>A (p.Val251Met)
|
|
|
NM_198576.4(AGRN):c.75C>G (p.Pro25=)
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|
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NM_198576.4(AGRN):c.762C>G (p.Ser254Arg)
|
|
|
NM_198576.4(AGRN):c.763T>C (p.Phe255Leu)
|
rs2100632861
|
|
NM_198576.4(AGRN):c.772_783del (p.Thr258_Arg261del)
|
|
|
NM_198576.4(AGRN):c.77G>A (p.Gly26Glu)
|
|
|
NM_198576.4(AGRN):c.792C>A (p.Asp264Glu)
|
rs1017639651
|
|
NM_198576.4(AGRN):c.792C>T (p.Asp264=)
|
|
|
NM_198576.4(AGRN):c.793G>A (p.Gly265Arg)
|
rs1180169378
|
|
NM_198576.4(AGRN):c.795G>A (p.Gly265=)
|
|
|
NM_198576.4(AGRN):c.799A>G (p.Thr267Ala)
|
rs758948924
|
|
NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile)
|
rs1644926945
|
|
NM_198576.4(AGRN):c.804C>A (p.Ala268=)
|
rs113789806
|
|
NM_198576.4(AGRN):c.807G>C (p.Ser269=)
|
rs746098476
|
|
NM_198576.4(AGRN):c.81C>G (p.Ala27=)
|
|
|
NM_198576.4(AGRN):c.825C>G (p.Thr275=)
|
rs2100633242
|
|
NM_198576.4(AGRN):c.829C>G (p.Arg277Gly)
|
rs1256837701
|
|
NM_198576.4(AGRN):c.843G>C (p.Glu281Asp)
|
|
|
NM_198576.4(AGRN):c.852C>T (p.Val284=)
|
|
|
NM_198576.4(AGRN):c.855C>T (p.Cys285=)
|
|
|
NM_198576.4(AGRN):c.864C>T (p.Asp288=)
|
rs1401768737
|
|
NM_198576.4(AGRN):c.866G>A (p.Gly289Asp)
|
rs2100633451
|
|
NM_198576.4(AGRN):c.86G>A (p.Gly29Glu)
|
rs1224863987
|
|
NM_198576.4(AGRN):c.873C>A (p.Asp291Glu)
|
rs2100633463
|
|
NM_198576.4(AGRN):c.885G>A (p.Glu295=)
|
rs765834882
|
|
NM_198576.4(AGRN):c.891G>A (p.Gln297=)
|
rs1570193830
|
|
NM_198576.4(AGRN):c.893_903del (p.Leu298fs)
|
|
|
NM_198576.4(AGRN):c.902_912del (p.Arg301fs)
|
rs1570193864
|
|
NM_198576.4(AGRN):c.904G>T (p.Ala302Ser)
|
rs1318084676
|
|
NM_198576.4(AGRN):c.905C>G (p.Ala302Gly)
|
|
|
NM_198576.4(AGRN):c.914_947del (p.Arg305fs)
|
rs1557700705
|
|
NM_198576.4(AGRN):c.917A>T (p.Gln306Leu)
|
|
|
NM_198576.4(AGRN):c.918G>A (p.Gln306=)
|
|
|
NM_198576.4(AGRN):c.923A>G (p.Asn308Ser)
|
|
|
NM_198576.4(AGRN):c.928T>C (p.Phe310Leu)
|
|
|
NM_198576.4(AGRN):c.92G>T (p.Cys31Phe)
|
rs2100555629
|
|
NM_198576.4(AGRN):c.939C>G (p.Phe313Leu)
|
|
|
NM_198576.4(AGRN):c.93C>T (p.Cys31=)
|
rs1557679927
|
|
NM_198576.4(AGRN):c.940G>A (p.Asp314Asn)
|
rs756357739
|
|
NM_198576.4(AGRN):c.946C>T (p.Pro316Ser)
|
|
|
NM_198576.4(AGRN):c.947C>T (p.Pro316Leu)
|
|
|
NM_198576.4(AGRN):c.94C>T (p.Pro32Ser)
|
rs1570124541
|
|
NM_198576.4(AGRN):c.952+16G>A
|
rs2100634035
|
|
NM_198576.4(AGRN):c.952+1_952+3del
|
|
|
NM_198576.4(AGRN):c.952+6C>A
|
rs980423212
|
|
NM_198576.4(AGRN):c.952+6C>T
|
rs980423212
|
|
NM_198576.4(AGRN):c.952+7G>T
|
|
|
NM_198576.4(AGRN):c.953-12C>T
|
|
|
NM_198576.4(AGRN):c.953-3C>T
|
|
|
NM_198576.4(AGRN):c.954C>T (p.Asp318=)
|
|
|
NM_198576.4(AGRN):c.956C>T (p.Pro319Leu)
|
rs1570194895
|
|
NM_198576.4(AGRN):c.95C>G (p.Pro32Arg)
|
|
|
NM_198576.4(AGRN):c.962A>G (p.Gln321Arg)
|
|
|
NM_198576.4(AGRN):c.963G>A (p.Gln321=)
|
|
|
NM_198576.4(AGRN):c.972C>T (p.Leu324=)
|
|
|
NM_198576.4(AGRN):c.979C>T (p.Pro327Ser)
|
|
|
NM_198576.4(AGRN):c.97G>A (p.Glu33Lys)
|
rs1000275884
|
|
NM_198576.4(AGRN):c.980C>G (p.Pro327Arg)
|
rs774941993
|
|
NM_198576.4(AGRN):c.995G>A (p.Arg332His)
|
rs762223640
|
|
Single allele
|
|
|