ClinVar Miner

List of variants studied for congenital myasthenic syndrome by Invitae

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9703
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HGVS dbSNP gnomAD frequency
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
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=)
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=)
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=)
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
NM_130811.4(SNAP25):c.408-14T>C
NM_130811.4(SNAP25):c.408-18T>G
NM_130811.4(SNAP25):c.408-19C>T
NM_130811.4(SNAP25):c.408-8G>A
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)
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
NM_130811.4(SNAP25):c.471C>A (p.Ile157=) rs777212434
NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln) rs760339630
NM_130811.4(SNAP25):c.487A>G (p.Met163Val) rs2123159174
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
NM_130811.4(SNAP25):c.493C>T (p.Leu165=)
NM_130811.4(SNAP25):c.495G>A (p.Leu165=) rs2064182455
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr) rs769950821
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp) rs1600791112
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
NM_130811.4(SNAP25):c.516T>C (p.Asp172=)
NM_130811.4(SNAP25):c.51G>A (p.Arg17=)
NM_130811.4(SNAP25):c.528C>T (p.Arg176=)
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
NM_130811.4(SNAP25):c.553-12C>T
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=)
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
NM_130811.4(SNAP25):c.73-12T>C
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
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
NM_144988.4(ALG14):c.137-15T>C
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=)
NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)
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
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
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=)
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
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=)
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=)
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
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=)
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
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=)
NM_198576.4(AGRN):c.6081G>A (p.Leu2027=)
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=)
NM_198576.4(AGRN):c.6117G>A (p.Leu2039=)
NM_198576.4(AGRN):c.6129C>T (p.Pro2043=)
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
NM_198576.4(AGRN):c.678G>A (p.Ala226=)
NM_198576.4(AGRN):c.696C>T (p.Arg232=)
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=)
NM_198576.4(AGRN):c.717C>G (p.Arg239=)
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=)
NM_198576.4(AGRN):c.727+11C>T
NM_198576.4(AGRN):c.727+16_727+33del
NM_198576.4(AGRN):c.727+19G>C
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=)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.