NM_001395413.1(POR):c.822-35C>T
|
rs41301394
|
0.25679
|
NM_000102.4(CYP17A1):c.1243+113A>T
|
rs10883783
|
0.24865
|
NM_000102.4(CYP17A1):c.1139+19T>G
|
rs4919686
|
0.21485
|
NM_001395413.1(POR):c.378A>G (p.Pro126=)
|
rs1135612
|
0.20982
|
NM_000102.4(CYP17A1):c.1243+83C>A
|
rs284849
|
0.15759
|
NM_015665.6(AAAS):c.414T>C (p.Asp138=)
|
rs11540353
|
0.07449
|
NM_000349.3(STAR):c.*456C>T
|
rs35045158
|
0.02530
|
NM_015665.6(AAAS):c.1557T>C (p.Thr519=)
|
rs112987708
|
0.02027
|
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=)
|
rs61752769
|
0.02016
|
NM_000497.4(CYP11B1):c.1122-20A>G
|
rs61752794
|
0.01661
|
NM_000349.2(STAR):c.-172C>T
|
rs16887226
|
0.01566
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_000497.4(CYP11B1):c.*1871T>A
|
rs61752818
|
0.01316
|
NM_000500.9(CYP21A2):c.203-46C>T
|
rs6452
|
0.01305
|
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=)
|
rs5316
|
0.01232
|
NM_013335.4(GMPPA):c.213C>T (p.Ala71=)
|
rs41272703
|
0.01225
|
NM_001379228.1(MRAP):c.148G>A (p.Val50Met)
|
rs75858661
|
0.01215
|
NM_000497.4(CYP11B1):c.*1076C>T
|
rs61752806
|
0.01209
|
NM_000529.2(MC2R):c.*427G>A
|
rs150928586
|
0.01192
|
NM_000497.4(CYP11B1):c.*193A>T
|
rs61752798
|
0.01010
|
NM_000529.2(MC2R):c.*2432A>C
|
rs187121326
|
0.00999
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser)
|
rs4537
|
0.00890
|
NM_000497.4(CYP11B1):c.*1512G>A
|
rs61752814
|
0.00880
|
NM_000497.4(CYP11B1):c.*1258G>A
|
rs61752808
|
0.00878
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_015665.6(AAAS):c.1515T>C (p.Pro505=)
|
rs35282133
|
0.00843
|
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)
|
rs34451260
|
0.00840
|
NM_001395413.1(POR):c.*207C>G
|
rs41302348
|
0.00808
|
NM_000497.4(CYP11B1):c.*468C>T
|
rs114832894
|
0.00774
|
NM_021098.3(CACNA1H):c.299+14C>G
|
rs539924701
|
0.00740
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_000497.4(CYP11B1):c.*1138del
|
rs148110533
|
0.00599
|
NM_000890.5(KCNJ5):c.*449A>T
|
rs115414355
|
0.00584
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser)
|
rs72556360
|
0.00534
|
NM_006440.5(TXNRD2):c.375-19T>G
|
rs147120537
|
0.00527
|
NM_006440.5(TXNRD2):c.529-6C>T
|
rs116054286
|
0.00525
|
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys)
|
rs6476
|
0.00523
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=)
|
rs28365112
|
0.00496
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
NM_021098.3(CACNA1H):c.5173+10C>T
|
rs72554026
|
0.00407
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_000498.3(CYP11B2):c.-14G>C
|
rs6440
|
0.00397
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=)
|
rs60275734
|
0.00378
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
NM_015665.5(AAAS):c.*32C>T
|
rs138994144
|
0.00246
|
NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)
|
rs28365126
|
0.00241
|
NM_000529.2(MC2R):c.*117A>T
|
rs149746538
|
0.00237
|
NM_013335.4(GMPPA):c.190C>T (p.Pro64Ser)
|
rs34873891
|
0.00230
|
NM_021098.3(CACNA1H):c.2603+20C>A
|
rs57600685
|
0.00226
|
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=)
|
rs61752765
|
0.00216
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr)
|
rs58394372
|
0.00193
|
NM_021098.3(CACNA1H):c.4778-14C>T
|
rs374784679
|
0.00185
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_021098.3(CACNA1H):c.1212+18T>C
|
rs11863387
|
0.00171
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_021098.3(CACNA1H):c.2790-20G>A
|
rs373286579
|
0.00153
|
NM_000500.9(CYP21A2):c.292+56T>G
|
rs543633765
|
0.00139
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His)
|
rs56885166
|
0.00136
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_021098.3(CACNA1H):c.1213-18C>T
|
rs57432507
|
0.00130
|
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met)
|
rs28365119
|
0.00128
|
NM_000497.4(CYP11B1):c.*634G>A
|
rs1137481
|
0.00126
|
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr)
|
rs56930660
|
0.00126
|
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=)
|
rs58110066
|
0.00122
|
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
|
rs148545588
|
0.00119
|
NM_013335.4(GMPPA):c.214G>A (p.Ala72Thr)
|
rs112693024
|
0.00118
|
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)
|
rs117964326
|
0.00118
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
NM_021098.3(CACNA1H):c.643+11G>A
|
rs200949826
|
0.00114
|
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)
|
rs61751149
|
0.00112
|
NM_004366.6(CLCN2):c.616-19C>T
|
rs189868847
|
0.00112
|
NM_004366.6(CLCN2):c.1086-17G>A
|
rs200509841
|
0.00111
|
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=)
|
rs149773402
|
0.00109
|
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser)
|
rs187596702
|
0.00107
|
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=)
|
rs61757297
|
0.00097
|
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)
|
rs34620645
|
0.00095
|
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=)
|
rs61732194
|
0.00095
|
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=)
|
rs200144667
|
0.00094
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_021098.3(CACNA1H):c.3617C>T (p.Pro1206Leu)
|
rs200055979
|
0.00091
|
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu)
|
rs61732108
|
0.00090
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_000529.2(MC2R):c.98C>T (p.Thr33Ile)
|
rs559032155
|
0.00087
|
NM_021098.3(CACNA1H):c.3364-3C>T
|
rs57079020
|
0.00086
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
NM_021098.3(CACNA1H):c.2451+20C>T
|
rs144765479
|
0.00083
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=)
|
rs61751150
|
0.00079
|
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)
|
rs143219149
|
0.00078
|
NM_021098.3(CACNA1H):c.3744+17G>A
|
rs187187164
|
0.00077
|
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=)
|
rs57606792
|
0.00073
|
NM_021098.3(CACNA1H):c.804-8A>G
|
rs367708036
|
0.00073
|
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln)
|
rs58594334
|
0.00072
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met)
|
rs28365116
|
0.00071
|
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=)
|
rs371026871
|
0.00068
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
NM_021098.3(CACNA1H):c.817A>T (p.Thr273Ser)
|
rs58386301
|
0.00068
|
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=)
|
rs60537026
|
0.00067
|
NM_021098.3(CACNA1H):c.3629C>T (p.Pro1210Leu)
|
rs61319429
|
0.00067
|
NM_021098.3(CACNA1H):c.6048+18C>A
|
rs72552057
|
0.00066
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=)
|
rs371762447
|
0.00063
|
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)
|
rs374421144
|
0.00063
|
NM_013335.4(GMPPA):c.756-10C>T
|
rs368738474
|
0.00061
|
NM_000500.9(CYP21A2):c.292+37T>A
|
rs184177366
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_021098.3(CACNA1H):c.299+20G>T
|
rs1291334132
|
0.00058
|
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu)
|
rs200832286
|
0.00054
|
NM_021098.3(CACNA1H):c.3845+8G>A
|
rs200291203
|
0.00054
|
NM_000529.2(MC2R):c.*2065G>A
|
rs193046675
|
0.00053
|
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=)
|
rs140749530
|
0.00053
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00053
|
NM_000497.4(CYP11B1):c.29G>A (p.Cys10Tyr)
|
rs6405
|
0.00049
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=)
|
rs749735503
|
0.00049
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_021098.3(CACNA1H):c.3969+20C>T
|
rs201422742
|
0.00048
|
NM_021098.3(CACNA1H):c.5445+6C>T
|
rs372544546
|
0.00048
|
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=)
|
rs375020212
|
0.00048
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_013335.4(GMPPA):c.858T>C (p.Asn286=)
|
rs145760617
|
0.00047
|
NM_000475.5(NR0B1):c.222A>G (p.Pro74=)
|
rs1337374469
|
0.00046
|
NM_001395413.1(POR):c.1521G>A (p.Ala507=)
|
rs368697465
|
0.00046
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00046
|
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)
|
rs201009269
|
0.00045
|
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)
|
rs373620549
|
0.00045
|
NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)
|
rs188765261
|
0.00044
|
NM_021098.3(CACNA1H):c.4476+15C>T
|
rs201891003
|
0.00043
|
NM_021098.3(CACNA1H):c.3845+11C>T
|
rs58080058
|
0.00042
|
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)
|
rs114064941
|
0.00041
|
NM_001395413.1(POR):c.1227C>T (p.Ser409=)
|
rs41301424
|
0.00041
|
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=)
|
rs58304047
|
0.00041
|
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=)
|
rs370805573
|
0.00041
|
NM_021098.3(CACNA1H):c.7057G>A (p.Val2353Met)
|
rs150601404
|
0.00041
|
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)
|
rs79829712
|
0.00041
|
NM_021098.3(CACNA1H):c.1213-7G>A
|
rs372752869
|
0.00040
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_000529.2(MC2R):c.754G>A (p.Ala252Thr)
|
rs554966392
|
0.00038
|
NM_015665.6(AAAS):c.327G>T (p.Thr109=)
|
rs190876509
|
0.00038
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)
|
rs146853795
|
0.00037
|
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)
|
rs144040058
|
0.00037
|
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)
|
rs138811555
|
0.00036
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00036
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser)
|
rs566921201
|
0.00035
|
NM_000497.4(CYP11B1):c.294G>A (p.Glu98=)
|
rs143211108
|
0.00034
|
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)
|
rs113012271
|
0.00034
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)
|
rs201352768
|
0.00034
|
NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe)
|
rs60534546
|
0.00033
|
NM_021098.3(CACNA1H):c.3846-16G>A
|
rs764918796
|
0.00033
|
NM_000497.4(CYP11B1):c.*718T>G
|
rs189479208
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp)
|
rs142306293
|
0.00032
|
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=)
|
rs200153161
|
0.00032
|
NM_013335.4(GMPPA):c.750C>T (p.Ser250=)
|
rs367640773
|
0.00031
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
NM_021098.3(CACNA1H):c.3745-17G>A
|
rs201602467
|
0.00031
|
NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val)
|
rs755918582
|
0.00031
|
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)
|
rs368835582
|
0.00031
|
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=)
|
rs368284672
|
0.00031
|
NM_021098.3(CACNA1H):c.3618G>A (p.Pro1206=)
|
rs771412437
|
0.00030
|
NM_021098.3(CACNA1H):c.4566+18G>A
|
rs376034289
|
0.00030
|
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=)
|
rs148707144
|
0.00029
|
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val)
|
rs201830462
|
0.00029
|
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)
|
rs567904247
|
0.00029
|
NM_013335.4(GMPPA):c.40+20G>A
|
rs373938536
|
0.00029
|
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val)
|
rs538959856
|
0.00029
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
NM_021098.3(CACNA1H):c.643+15C>G
|
rs59026203
|
0.00029
|
NM_021098.3(CACNA1H):c.6943G>A (p.Gly2315Ser)
|
rs200158741
|
0.00029
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_021098.3(CACNA1H):c.2003-5C>T
|
rs369119012
|
0.00027
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp)
|
rs186968009
|
0.00026
|
NM_001128840.3(CACNA1D):c.3361A>G (p.Ile1121Val)
|
rs146892408
|
0.00026
|
NM_001395413.1(POR):c.456C>T (p.Phe152=)
|
rs372672054
|
0.00026
|
NM_001395413.1(POR):c.508-20C>T
|
rs200924788
|
0.00026
|
NM_001395413.1(POR):c.522G>T (p.Gly174=)
|
rs72557913
|
0.00026
|
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=)
|
rs375590164
|
0.00026
|
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)
|
rs199914911
|
0.00026
|
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln)
|
rs568224207
|
0.00026
|
NM_021098.3(CACNA1H):c.2356C>T (p.Leu786=)
|
rs201386848
|
0.00026
|
NM_021098.3(CACNA1H):c.3745-18C>T
|
rs570915422
|
0.00026
|
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln)
|
rs374710554
|
0.00026
|
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=)
|
rs371450047
|
0.00025
|
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=)
|
rs372975893
|
0.00025
|
NM_013335.4(GMPPA):c.40+13G>A
|
rs199872147
|
0.00024
|
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)
|
rs532223684
|
0.00024
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
NM_021098.3(CACNA1H):c.4779G>A (p.Glu1593=)
|
rs563695539
|
0.00024
|
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=)
|
rs368251427
|
0.00024
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
NM_000529.2(MC2R):c.*2323C>T
|
rs149107575
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=)
|
rs61543423
|
0.00023
|
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=)
|
rs1052743921
|
0.00023
|
NM_021098.3(CACNA1H):c.6252G>A (p.Ala2084=)
|
rs767753103
|
0.00023
|
NM_013335.4(GMPPA):c.921C>T (p.Ile307=)
|
rs145170112
|
0.00022
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
NM_000498.3(CYP11B2):c.9C>A (p.Leu3=)
|
rs148205451
|
0.00021
|
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)
|
rs147245544
|
0.00021
|
NM_001379228.1(MRAP):c.446A>G (p.Asn149Ser)
|
rs200448756
|
0.00021
|
NM_021098.3(CACNA1H):c.2349C>T (p.Ser783=)
|
rs367722258
|
0.00021
|
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln)
|
rs370088144
|
0.00021
|
NM_021098.3(CACNA1H):c.3846-4C>T
|
rs370085940
|
0.00021
|
NM_021098.3(CACNA1H):c.4062C>T (p.Ser1354=)
|
rs376236175
|
0.00021
|
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys)
|
rs755817927
|
0.00021
|
NM_021098.3(CACNA1H):c.5244+14G>A
|
rs370552821
|
0.00021
|
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=)
|
rs56816479
|
0.00021
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=)
|
rs373830807
|
0.00021
|
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His)
|
rs201651793
|
0.00021
|
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val)
|
rs61018135
|
0.00020
|
NM_021098.3(CACNA1H):c.2452-7C>T
|
rs28365121
|
0.00020
|
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)
|
rs202019417
|
0.00019
|
NM_021098.3(CACNA1H):c.4759+8G>A
|
rs199997129
|
0.00019
|
NM_004366.6(CLCN2):c.879A>G (p.Ala293=)
|
rs138937943
|
0.00018
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_021098.3(CACNA1H):c.4860C>T (p.Asp1620=)
|
rs201309183
|
0.00018
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=)
|
rs138627624
|
0.00017
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=)
|
rs543668675
|
0.00017
|
NM_021098.3(CACNA1H):c.4038+14C>T
|
rs537875566
|
0.00017
|
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=)
|
rs61700478
|
0.00017
|
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)
|
rs370732845
|
0.00016
|
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)
|
rs143038843
|
0.00016
|
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=)
|
rs193922546
|
0.00016
|
NM_001395413.1(POR):c.1661-16G>A
|
rs377723544
|
0.00016
|
NM_004366.6(CLCN2):c.936C>G (p.Leu312=)
|
rs41266267
|
0.00016
|
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=)
|
rs59027754
|
0.00016
|
NM_021098.3(CACNA1H):c.1047G>A (p.Ser349=)
|
rs72552034
|
0.00016
|
NM_021098.3(CACNA1H):c.1053C>T (p.Asp351=)
|
rs200378845
|
0.00016
|
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)
|
rs375325893
|
0.00016
|
NM_021098.3(CACNA1H):c.2790-5C>T
|
rs369327243
|
0.00016
|
NM_021098.3(CACNA1H):c.3845+16C>G
|
rs781551259
|
0.00016
|
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=)
|
rs777641943
|
0.00016
|
NM_021098.3(CACNA1H):c.4650C>T (p.Phe1550=)
|
rs377021504
|
0.00016
|
NM_021098.3(CACNA1H):c.5174-5C>T
|
rs199536335
|
0.00016
|
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=)
|
rs375620368
|
0.00016
|
NM_021098.3(CACNA1H):c.5547C>T (p.Phe1849=)
|
rs747094670
|
0.00016
|
NM_021098.3(CACNA1H):c.5887+13G>T
|
rs369077839
|
0.00016
|
NM_021098.3(CACNA1H):c.6249G>A (p.Pro2083=)
|
rs376251979
|
0.00016
|
NM_021098.3(CACNA1H):c.6460T>A (p.Trp2154Arg)
|
rs767461657
|
0.00016
|
NM_021098.3(CACNA1H):c.6464G>A (p.Arg2155Gln)
|
rs377261049
|
0.00016
|
NM_001395413.1(POR):c.1776C>T (p.Asn592=)
|
rs782559723
|
0.00015
|
NM_001395413.1(POR):c.822-18T>G
|
rs377191310
|
0.00015
|
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=)
|
rs374317639
|
0.00015
|
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=)
|
rs537043174
|
0.00015
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
NM_021098.3(CACNA1H):c.690C>T (p.Leu230=)
|
rs376748975
|
0.00015
|
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=)
|
rs370836939
|
0.00015
|
NM_000497.4(CYP11B1):c.89G>A (p.Arg30Gln)
|
rs201103987
|
0.00014
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=)
|
rs370266713
|
0.00014
|
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=)
|
rs369894677
|
0.00014
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln)
|
rs1180154075
|
0.00014
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His)
|
rs370838298
|
0.00014
|
NM_021098.3(CACNA1H):c.3969+12A>G
|
rs200138472
|
0.00014
|
NM_021098.3(CACNA1H):c.4777+6G>A
|
rs374875369
|
0.00014
|
NM_021098.3(CACNA1H):c.5912C>T (p.Pro1971Leu)
|
rs574952387
|
0.00014
|
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=)
|
rs369051137
|
0.00014
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000497.4(CYP11B1):c.395+10G>A
|
rs768465089
|
0.00013
|
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala)
|
rs200283987
|
0.00013
|
NM_001395413.1(POR):c.335C>T (p.Ala112Val)
|
rs199634961
|
0.00013
|
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu)
|
rs780502055
|
0.00013
|
NM_021098.3(CACNA1H):c.3042C>T (p.Leu1014=)
|
rs372665410
|
0.00013
|
NM_021098.3(CACNA1H):c.3363+12C>G
|
rs749123905
|
0.00013
|
NM_021098.3(CACNA1H):c.4536C>T (p.Asp1512=)
|
rs370484391
|
0.00013
|
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)
|
rs372529098
|
0.00013
|
NM_021098.3(CACNA1H):c.6144G>A (p.Pro2048=)
|
rs759924315
|
0.00013
|
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile)
|
rs367607849
|
0.00013
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)
|
rs777217625
|
0.00013
|
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=)
|
rs193922545
|
0.00012
|
NM_004366.6(CLCN2):c.221-8G>A
|
rs769713180
|
0.00012
|
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)
|
rs368956894
|
0.00012
|
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His)
|
rs545918011
|
0.00012
|
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=)
|
rs773501953
|
0.00012
|
NM_021098.3(CACNA1H):c.3330C>T (p.Ser1110=)
|
rs761381340
|
0.00012
|
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=)
|
rs940068732
|
0.00012
|
NM_021098.3(CACNA1H):c.3778C>G (p.Pro1260Ala)
|
rs765647810
|
0.00012
|
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val)
|
rs72552053
|
0.00012
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)
|
rs587675471
|
0.00011
|
NM_001395413.1(POR):c.1671G>C (p.Val557=)
|
rs782786537
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_004366.6(CLCN2):c.726C>T (p.Ala242=)
|
rs768569603
|
0.00011
|
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=)
|
rs375894182
|
0.00011
|
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)
|
rs41292281
|
0.00011
|
NM_021098.3(CACNA1H):c.1722C>T (p.Ser574=)
|
rs763201457
|
0.00011
|
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=)
|
rs369322856
|
0.00011
|
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=)
|
rs766161313
|
0.00011
|
NM_021098.3(CACNA1H):c.2003-4G>A
|
rs778702970
|
0.00011
|
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=)
|
rs536342720
|
0.00011
|
NM_021098.3(CACNA1H):c.2307G>A (p.Pro769=)
|
rs61072201
|
0.00011
|
NM_021098.3(CACNA1H):c.3744+8C>T
|
rs373354560
|
0.00011
|
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val)
|
rs770398676
|
0.00011
|
NM_021098.3(CACNA1H):c.4677C>T (p.His1559=)
|
rs370998291
|
0.00011
|
NM_021098.3(CACNA1H):c.5621C>T (p.Ala1874Val)
|
rs374807892
|
0.00011
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
NM_021098.3(CACNA1H):c.6871G>A (p.Glu2291Lys)
|
rs376919826
|
0.00011
|
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=)
|
rs748968251
|
0.00011
|
NM_178817.4(MRAP):c.-67C>T
|
rs180872414
|
0.00011
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_013335.4(GMPPA):c.345T>C (p.Ala115=)
|
rs761791232
|
0.00010
|
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=)
|
rs370035989
|
0.00010
|
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=)
|
rs755382298
|
0.00010
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
0.00010
|
NM_021098.3(CACNA1H):c.3988G>A (p.Val1330Ile)
|
rs28365125
|
0.00010
|
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr)
|
rs202090928
|
0.00010
|
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=)
|
rs371310397
|
0.00010
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_021098.3(CACNA1H):c.5244+10G>T
|
rs377293771
|
0.00010
|
NM_021098.3(CACNA1H):c.5445+10G>A
|
rs376851953
|
0.00010
|
NM_021098.3(CACNA1H):c.6639C>T (p.Ser2213=)
|
rs768323761
|
0.00010
|
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile)
|
rs72559703
|
0.00009
|
NM_000349.3(STAR):c.759G>A (p.Lys253=)
|
rs146000965
|
0.00009
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
NM_000529.2(MC2R):c.*1619G>A
|
rs570920789
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)
|
rs201217363
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.468G>A (p.Leu156=)
|
rs782013669
|
0.00009
|
NM_021098.3(CACNA1H):c.1674G>A (p.Ser558=)
|
rs777311819
|
0.00009
|
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln)
|
rs748210497
|
0.00009
|
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=)
|
rs539497900
|
0.00009
|
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=)
|
rs59906488
|
0.00009
|
NM_021098.3(CACNA1H):c.2203C>T (p.Arg735Trp)
|
rs191938566
|
0.00009
|
NM_021098.3(CACNA1H):c.2244G>A (p.Ala748=)
|
rs372743868
|
0.00009
|
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=)
|
rs375091126
|
0.00009
|
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=)
|
rs958144782
|
0.00009
|
NM_021098.3(CACNA1H):c.3744+9G>A
|
rs377367672
|
0.00009
|
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=)
|
rs72552043
|
0.00009
|
NM_021098.3(CACNA1H):c.4445G>A (p.Arg1482Gln)
|
rs372132309
|
0.00009
|
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=)
|
rs372465474
|
0.00009
|
NM_021098.3(CACNA1H):c.4760-8C>T
|
rs375086726
|
0.00009
|
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=)
|
rs377611664
|
0.00009
|
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=)
|
rs368713417
|
0.00009
|
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)
|
rs199664795
|
0.00009
|
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=)
|
rs201222065
|
0.00008
|
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)
|
rs33932258
|
0.00008
|
NM_000475.5(NR0B1):c.207C>T (p.Cys69=)
|
rs1274628114
|
0.00008
|
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=)
|
rs199988205
|
0.00008
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)
|
rs372736753
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_001395413.1(POR):c.1974G>A (p.Ala658=)
|
rs367807239
|
0.00008
|
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala)
|
rs141605519
|
0.00008
|
NM_021098.3(CACNA1H):c.105G>A (p.Ala35=)
|
rs1288966510
|
0.00008
|
NM_021098.3(CACNA1H):c.1275G>A (p.Thr425=)
|
rs773277660
|
0.00008
|
NM_021098.3(CACNA1H):c.2452-13C>T
|
rs774710747
|
0.00008
|
NM_021098.3(CACNA1H):c.2452-15C>T
|
rs769067067
|
0.00008
|
NM_021098.3(CACNA1H):c.3163A>G (p.Met1055Val)
|
rs563037729
|
0.00008
|
NM_021098.3(CACNA1H):c.3970-19C>A
|
rs374297068
|
0.00008
|
NM_021098.3(CACNA1H):c.3990C>G (p.Val1330=)
|
rs199736210
|
0.00008
|
NM_021098.3(CACNA1H):c.4164C>T (p.Gly1388=)
|
rs371007087
|
0.00008
|
NM_021098.3(CACNA1H):c.4567-15G>A
|
rs764345325
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=)
|
rs144424401
|
0.00008
|
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp)
|
rs762635374
|
0.00008
|
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=)
|
rs755043976
|
0.00008
|
NM_021098.3(CACNA1H):c.801C>T (p.Val267=)
|
rs372726042
|
0.00008
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
NM_021098.3(CACNA1H):c.1224C>T (p.Phe408=)
|
rs376394318
|
0.00007
|
NM_021098.3(CACNA1H):c.1266C>T (p.Phe422=)
|
rs779220684
|
0.00007
|
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=)
|
rs147877708
|
0.00007
|
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala)
|
rs201449513
|
0.00007
|
NM_021098.3(CACNA1H):c.2294A>G (p.Gln765Arg)
|
rs372489040
|
0.00007
|
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=)
|
rs1043511168
|
0.00007
|
NM_021098.3(CACNA1H):c.2907+8C>G
|
rs374392186
|
0.00007
|
NM_021098.3(CACNA1H):c.2937C>G (p.Val979=)
|
rs770074317
|
0.00007
|
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=)
|
rs374946880
|
0.00007
|
NM_021098.3(CACNA1H):c.3155-11C>G
|
rs371691311
|
0.00007
|
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn)
|
rs748648178
|
0.00007
|
NM_021098.3(CACNA1H):c.4394G>A (p.Arg1465Lys)
|
rs562634730
|
0.00007
|
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=)
|
rs372640825
|
0.00007
|
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)
|
rs575909585
|
0.00007
|
NM_021098.3(CACNA1H):c.5904G>T (p.Val1968=)
|
rs899692720
|
0.00007
|
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=)
|
rs774253114
|
0.00007
|
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)
|
rs745608432
|
0.00006
|
NM_000349.3(STAR):c.738C>T (p.Asp246=)
|
rs758031518
|
0.00006
|
NM_000498.3(CYP11B2):c.674A>G (p.His225Arg)
|
rs144140791
|
0.00006
|
NM_001395413.1(POR):c.1305G>A (p.Pro435=)
|
rs199937789
|
0.00006
|
NM_001395413.1(POR):c.1389+9C>T
|
rs781864218
|
0.00006
|
NM_001395413.1(POR):c.1950C>T (p.Leu650=)
|
rs41301442
|
0.00006
|
NM_001395413.1(POR):c.229-5C>T
|
rs782035827
|
0.00006
|
NM_001395413.1(POR):c.420C>T (p.Tyr140=)
|
rs368468521
|
0.00006
|
NM_001395413.1(POR):c.45G>A (p.Ala15=)
|
rs782378313
|
0.00006
|
NM_001395413.1(POR):c.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_013335.4(GMPPA):c.300C>T (p.Asp100=)
|
rs779526489
|
0.00006
|
NM_021098.3(CACNA1H):c.1213-8C>T
|
rs745805314
|
0.00006
|
NM_021098.3(CACNA1H):c.1476C>T (p.Pro492=)
|
rs757110424
|
0.00006
|
NM_021098.3(CACNA1H):c.1617C>T (p.Pro539=)
|
rs914641626
|
0.00006
|
NM_021098.3(CACNA1H):c.1755G>A (p.Pro585=)
|
rs375390442
|
0.00006
|
NM_021098.3(CACNA1H):c.2296A>T (p.Arg766Trp)
|
rs573493037
|
0.00006
|
NM_021098.3(CACNA1H):c.2789+7G>A
|
rs376597423
|
0.00006
|
NM_021098.3(CACNA1H):c.2789+8C>A
|
rs367549572
|
0.00006
|
NM_021098.3(CACNA1H):c.2877C>T (p.Ser959=)
|
rs200038089
|
0.00006
|
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=)
|
rs56990251
|
0.00006
|
NM_021098.3(CACNA1H):c.2908-19G>T
|
rs764138322
|
0.00006
|
NM_021098.3(CACNA1H):c.2961C>T (p.Thr987=)
|
rs535742093
|
0.00006
|
NM_021098.3(CACNA1H):c.3147G>C (p.Gln1049His)
|
rs61642542
|
0.00006
|
NM_021098.3(CACNA1H):c.3155-5C>T
|
rs143582273
|
0.00006
|
NM_021098.3(CACNA1H):c.3471C>T (p.Arg1157=)
|
rs777626104
|
0.00006
|
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=)
|
rs555890424
|
0.00006
|
NM_021098.3(CACNA1H):c.3582G>A (p.Arg1194=)
|
rs765311471
|
0.00006
|
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=)
|
rs369508525
|
0.00006
|
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr)
|
rs200400235
|
0.00006
|
NM_021098.3(CACNA1H):c.4350+16G>A
|
rs372361783
|
0.00006
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=)
|
rs201270662
|
0.00006
|
NM_021098.3(CACNA1H):c.4777+17G>A
|
rs372843972
|
0.00006
|
NM_021098.3(CACNA1H):c.4930-17C>T
|
rs368265069
|
0.00006
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
NM_021098.3(CACNA1H):c.5039+16C>T
|
rs58019636
|
0.00006
|
NM_021098.3(CACNA1H):c.5173+11G>A
|
rs369914581
|
0.00006
|
NM_021098.3(CACNA1H):c.5174-20C>T
|
rs749624753
|
0.00006
|
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=)
|
rs534503991
|
0.00006
|
NM_021098.3(CACNA1H):c.5433C>T (p.Asn1811=)
|
rs61467431
|
0.00006
|
NM_021098.3(CACNA1H):c.5499G>A (p.Pro1833=)
|
rs752720980
|
0.00006
|
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=)
|
rs58819745
|
0.00006
|
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr)
|
rs375010790
|
0.00006
|
NM_021098.3(CACNA1H):c.5622G>A (p.Ala1874=)
|
rs765687202
|
0.00006
|
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=)
|
rs765457704
|
0.00006
|
NM_021098.3(CACNA1H):c.6049-10G>A
|
rs199547941
|
0.00006
|
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser)
|
rs746537400
|
0.00006
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
NM_021098.3(CACNA1H):c.643+16C>T
|
rs200284275
|
0.00006
|
NM_021098.3(CACNA1H):c.6444C>T (p.Gly2148=)
|
rs769867201
|
0.00006
|
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=)
|
rs375725132
|
0.00006
|
NM_021098.3(CACNA1H):c.803+17C>T
|
rs375740846
|
0.00006
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000198.4(HSD3B2):c.143-7C>T
|
rs200483303
|
0.00005
|
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)
|
rs587717286
|
0.00005
|
NM_000349.3(STAR):c.402T>C (p.Tyr134=)
|
rs144881901
|
0.00005
|
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser)
|
rs776650491
|
0.00005
|
NM_000497.4(CYP11B1):c.157C>T (p.Leu53=)
|
rs61751135
|
0.00005
|
NM_001395413.1(POR):c.888C>T (p.Thr296=)
|
rs180683888
|
0.00005
|
NM_001395413.1(POR):c.990C>T (p.Leu330=)
|
rs376830846
|
0.00005
|
NM_013335.4(GMPPA):c.138+9_138+10del
|
rs757832477
|
0.00005
|
NM_021098.3(CACNA1H):c.1200C>T (p.Ile400=)
|
rs762744363
|
0.00005
|
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=)
|
rs370061462
|
0.00005
|
NM_021098.3(CACNA1H):c.132C>T (p.Ser44=)
|
rs1035051143
|
0.00005
|
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=)
|
rs960225573
|
0.00005
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu)
|
rs761877111
|
0.00005
|
NM_021098.3(CACNA1H):c.2452-18C>T
|
rs924601477
|
0.00005
|
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=)
|
rs746896203
|
0.00005
|
NM_021098.3(CACNA1H):c.2811C>T (p.Phe937=)
|
rs372701359
|
0.00005
|
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=)
|
rs560635024
|
0.00005
|
NM_021098.3(CACNA1H):c.3155-4G>A
|
rs543267343
|
0.00005
|
NM_021098.3(CACNA1H):c.3525C>T (p.Thr1175=)
|
rs758067750
|
0.00005
|
NM_021098.3(CACNA1H):c.3858C>T (p.Ser1286=)
|
rs759645572
|
0.00005
|
NM_021098.3(CACNA1H):c.4039-17C>T
|
rs775820161
|
0.00005
|
NM_021098.3(CACNA1H):c.4223+14C>T
|
rs538104013
|
0.00005
|
NM_021098.3(CACNA1H):c.4778-4G>A
|
rs779949902
|
0.00005
|
NM_021098.3(CACNA1H):c.5479C>T (p.His1827Tyr)
|
rs77104261
|
0.00005
|
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=)
|
rs754501360
|
0.00005
|
NM_021098.3(CACNA1H):c.5811G>A (p.Val1937=)
|
rs371745750
|
0.00005
|
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu)
|
rs746967306
|
0.00005
|
NM_021098.3(CACNA1H):c.5888-16T>A
|
rs965860206
|
0.00005
|
NM_021098.3(CACNA1H):c.6426C>T (p.Gly2142=)
|
rs558837787
|
0.00005
|
NM_021098.3(CACNA1H):c.6504G>A (p.Ala2168=)
|
rs751933126
|
0.00005
|
NM_021098.3(CACNA1H):c.6594G>A (p.Ala2198=)
|
rs368694810
|
0.00005
|
NM_021098.3(CACNA1H):c.6729C>A (p.Asp2243Glu)
|
rs534649086
|
0.00005
|
NM_021098.3(CACNA1H):c.699C>T (p.Val233=)
|
rs200398792
|
0.00005
|
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)
|
rs200939989
|
0.00005
|
NM_000349.3(STAR):c.64+7G>C
|
rs769781083
|
0.00004
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=)
|
rs576292844
|
0.00004
|
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
|
rs373736765
|
0.00004
|
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=)
|
rs779461311
|
0.00004
|
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=)
|
rs772530391
|
0.00004
|
NM_000529.2(MC2R):c.*2224A>C
|
rs551809146
|
0.00004
|
NM_001395413.1(POR):c.1020C>T (p.Ala340=)
|
rs72557942
|
0.00004
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.588C>T (p.Gly196=)
|
rs1489904713
|
0.00004
|
NM_001395413.1(POR):c.633-8C>T
|
rs782533498
|
0.00004
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr)
|
rs568335048
|
0.00004
|
NM_004366.6(CLCN2):c.2143+8C>T
|
rs752854427
|
0.00004
|
NM_013335.4(GMPPA):c.516C>T (p.Ser172=)
|
rs765824301
|
0.00004
|
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=)
|
rs751812661
|
0.00004
|
NM_021098.3(CACNA1H):c.1046C>T (p.Ser349Leu)
|
rs756026742
|
0.00004
|
NM_021098.3(CACNA1H):c.1301G>A (p.Arg434Gln)
|
rs373469167
|
0.00004
|
NM_021098.3(CACNA1H):c.1329C>T (p.Asn443=)
|
rs368405304
|
0.00004
|
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys)
|
rs1040565692
|
0.00004
|
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=)
|
rs753841406
|
0.00004
|
NM_021098.3(CACNA1H):c.1671C>G (p.Pro557=)
|
rs747661532
|
0.00004
|
NM_021098.3(CACNA1H):c.1812G>A (p.Leu604=)
|
rs751089816
|
0.00004
|
NM_021098.3(CACNA1H):c.1920G>A (p.Pro640=)
|
rs370824503
|
0.00004
|
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp)
|
rs267606697
|
0.00004
|
NM_021098.3(CACNA1H):c.2363G>A (p.Arg788His)
|
rs532296550
|
0.00004
|
NM_021098.3(CACNA1H):c.2421G>A (p.Thr807=)
|
rs761461229
|
0.00004
|
NM_021098.3(CACNA1H):c.2433C>T (p.Gly811=)
|
rs369215879
|
0.00004
|
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=)
|
rs372206587
|
0.00004
|
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=)
|
rs745368829
|
0.00004
|
NM_021098.3(CACNA1H):c.2789+20C>T
|
rs769544181
|
0.00004
|
NM_021098.3(CACNA1H):c.2826C>T (p.Ser942=)
|
rs759936559
|
0.00004
|
NM_021098.3(CACNA1H):c.2850C>T (p.Thr950=)
|
rs201667568
|
0.00004
|
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=)
|
rs769118582
|
0.00004
|
NM_021098.3(CACNA1H):c.300-6C>T
|
rs755354027
|
0.00004
|
NM_021098.3(CACNA1H):c.3228C>T (p.Leu1076=)
|
rs113925563
|
0.00004
|
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg)
|
rs759262489
|
0.00004
|
NM_021098.3(CACNA1H):c.3605G>A (p.Arg1202Gln)
|
rs745360721
|
0.00004
|
NM_021098.3(CACNA1H):c.3621C>T (p.Ala1207=)
|
rs1325273276
|
0.00004
|
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=)
|
rs767435491
|
0.00004
|
NM_021098.3(CACNA1H):c.3688C>T (p.Leu1230=)
|
rs372152910
|
0.00004
|
NM_021098.3(CACNA1H):c.3707G>A (p.Arg1236His)
|
rs772473191
|
0.00004
|
NM_021098.3(CACNA1H):c.3721G>A (p.Glu1241Lys)
|
rs201993286
|
0.00004
|
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn)
|
rs372126787
|
0.00004
|
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu)
|
rs769539864
|
0.00004
|
NM_021098.3(CACNA1H):c.4017C>T (p.Phe1339=)
|
rs766859067
|
0.00004
|
NM_021098.3(CACNA1H):c.412-9C>T
|
rs1596382402
|
0.00004
|
NM_021098.3(CACNA1H):c.4192C>T (p.Leu1398=)
|
rs1391605092
|
0.00004
|
NM_021098.3(CACNA1H):c.4224-7C>T
|
rs768524941
|
0.00004
|
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=)
|
rs373587418
|
0.00004
|
NM_021098.3(CACNA1H):c.4387G>A (p.Asp1463Asn)
|
rs542245543
|
0.00004
|
NM_021098.3(CACNA1H):c.4557C>T (p.Val1519=)
|
rs761169638
|
0.00004
|
NM_021098.3(CACNA1H):c.4644C>T (p.Asn1548=)
|
rs146103792
|
0.00004
|
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met)
|
rs369045626
|
0.00004
|
NM_021098.3(CACNA1H):c.4759+19C>T
|
rs757614403
|
0.00004
|
NM_021098.3(CACNA1H):c.4778-13G>A
|
rs757429018
|
0.00004
|
NM_021098.3(CACNA1H):c.5064C>T (p.Ile1688=)
|
rs368182320
|
0.00004
|
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr)
|
rs61372944
|
0.00004
|
NM_021098.3(CACNA1H):c.5382C>T (p.Phe1794=)
|
rs567978624
|
0.00004
|
NM_021098.3(CACNA1H):c.5445+9C>T
|
rs750165729
|
0.00004
|
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=)
|
rs761380706
|
0.00004
|
NM_021098.3(CACNA1H):c.5742G>C (p.Leu1914=)
|
rs964108081
|
0.00004
|
NM_021098.3(CACNA1H):c.6049-11C>T
|
rs764862065
|
0.00004
|
NM_021098.3(CACNA1H):c.6219C>T (p.Thr2073=)
|
rs757443856
|
0.00004
|
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=)
|
rs369048631
|
0.00004
|
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met)
|
rs772154386
|
0.00004
|
NM_021098.3(CACNA1H):c.6396G>A (p.Leu2132=)
|
rs759614653
|
0.00004
|
NM_021098.3(CACNA1H):c.6468C>T (p.Pro2156=)
|
rs557192491
|
0.00004
|
NM_021098.3(CACNA1H):c.6600C>T (p.Asp2200=)
|
rs769489660
|
0.00004
|
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=)
|
rs1362184958
|
0.00004
|
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=)
|
rs368014968
|
0.00004
|
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=)
|
rs398124369
|
0.00004
|
NM_021098.3(CACNA1H):c.6786C>T (p.Thr2262=)
|
rs568142514
|
0.00004
|
NM_021098.3(CACNA1H):c.6942C>T (p.Val2314=)
|
rs574397087
|
0.00004
|
NM_021098.3(CACNA1H):c.6955_6957del (p.Glu2319del)
|
rs755117171
|
0.00004
|
NM_021098.3(CACNA1H):c.696C>T (p.Asn232=)
|
rs750648723
|
0.00004
|
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val)
|
rs56900494
|
0.00004
|
NM_021098.3(CACNA1H):c.873C>T (p.Cys291=)
|
rs746367219
|
0.00004
|
NM_178817.4(MRAP):c.-91C>T
|
rs565439357
|
0.00004
|
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=)
|
rs1043151688
|
0.00003
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
NM_000475.5(NR0B1):c.324G>A (p.Ser108=)
|
rs147442403
|
0.00003
|
NM_000497.4(CYP11B1):c.222A>G (p.Glu74=)
|
rs200096159
|
0.00003
|
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)
|
rs762347776
|
0.00003
|
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=)
|
rs372647044
|
0.00003
|
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)
|
rs765873474
|
0.00003
|
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)
|
rs140697732
|
0.00003
|
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)
|
rs757895735
|
0.00003
|
NM_001128840.3(CACNA1D):c.1479-19C>T
|
rs377304772
|
0.00003
|
NM_001395413.1(POR):c.1057+20C>T
|
rs782720450
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.1390-14G>A
|
rs782583370
|
0.00003
|
NM_001395413.1(POR):c.1662C>T (p.Gly554=)
|
rs541657992
|
0.00003
|
NM_001395413.1(POR):c.1789C>T (p.Arg597Trp)
|
rs72557950
|
0.00003
|
NM_001395413.1(POR):c.229-10C>A
|
rs542774696
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001395413.1(POR):c.723-13C>T
|
rs372119575
|
0.00003
|
NM_013335.4(GMPPA):c.876C>T (p.Thr292=)
|
rs371527019
|
0.00003
|
NM_021098.3(CACNA1H):c.1129C>T (p.Leu377=)
|
rs529122240
|
0.00003
|
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=)
|
rs764371721
|
0.00003
|
NM_021098.3(CACNA1H):c.1213-20C>A
|
rs543889283
|
0.00003
|
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)
|
rs760258010
|
0.00003
|
NM_021098.3(CACNA1H):c.1413C>G (p.Val471=)
|
rs781240456
|
0.00003
|
NM_021098.3(CACNA1H):c.1437C>T (p.Tyr479=)
|
rs144326377
|
0.00003
|
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=)
|
rs770284927
|
0.00003
|
NM_021098.3(CACNA1H):c.1938C>T (p.His646=)
|
rs771171443
|
0.00003
|
NM_021098.3(CACNA1H):c.1983G>A (p.Pro661=)
|
rs56875953
|
0.00003
|
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=)
|
rs764559629
|
0.00003
|
NM_021098.3(CACNA1H):c.2003-6C>T
|
rs1435574238
|
0.00003
|
NM_021098.3(CACNA1H):c.2208C>T (p.His736=)
|
rs376616017
|
0.00003
|
NM_021098.3(CACNA1H):c.2452-6C>T
|
rs766620515
|
0.00003
|
NM_021098.3(CACNA1H):c.2452-8G>T
|
rs372868138
|
0.00003
|
NM_021098.3(CACNA1H):c.2490C>T (p.Ile830=)
|
rs766316929
|
0.00003
|
NM_021098.3(CACNA1H):c.2604-4G>A
|
rs543668710
|
0.00003
|
NM_021098.3(CACNA1H):c.2789+10A>G
|
rs535085854
|
0.00003
|
NM_021098.3(CACNA1H):c.2790-6C>T
|
rs768747822
|
0.00003
|
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=)
|
rs775833368
|
0.00003
|
NM_021098.3(CACNA1H):c.2898C>T (p.Thr966=)
|
rs767436883
|
0.00003
|
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=)
|
rs376470846
|
0.00003
|
NM_021098.3(CACNA1H):c.2940G>A (p.Leu980=)
|
rs775122425
|
0.00003
|
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)
|
rs774136809
|
0.00003
|
NM_021098.3(CACNA1H):c.3087G>A (p.Thr1029=)
|
rs544225254
|
0.00003
|
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg)
|
rs748550409
|
0.00003
|
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=)
|
rs368155283
|
0.00003
|
NM_021098.3(CACNA1H):c.3364-13C>T
|
rs780323364
|
0.00003
|
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys)
|
rs1057523326
|
0.00003
|
NM_021098.3(CACNA1H):c.3496C>T (p.Leu1166=)
|
rs566028361
|
0.00003
|
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys)
|
rs778684497
|
0.00003
|
NM_021098.3(CACNA1H):c.366C>G (p.Pro122=)
|
rs372041705
|
0.00003
|
NM_021098.3(CACNA1H):c.3696C>T (p.Ile1232=)
|
rs749776546
|
0.00003
|
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu)
|
rs571145188
|
0.00003
|
NM_021098.3(CACNA1H):c.3744+11G>A
|
rs765196762
|
0.00003
|
NM_021098.3(CACNA1H):c.3845+14G>C
|
rs995847684
|
0.00003
|
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)
|
rs753494538
|
0.00003
|
NM_021098.3(CACNA1H):c.4059G>C (p.Leu1353=)
|
rs749134982
|
0.00003
|
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=)
|
rs771718484
|
0.00003
|
NM_021098.3(CACNA1H):c.4140C>T (p.Val1380=)
|
rs746638320
|
0.00003
|
NM_021098.3(CACNA1H):c.4201C>T (p.Leu1401=)
|
rs1357359996
|
0.00003
|
NM_021098.3(CACNA1H):c.4266G>A (p.Thr1422=)
|
rs369851210
|
0.00003
|
NM_021098.3(CACNA1H):c.4320C>T (p.Phe1440=)
|
rs748410941
|
0.00003
|
NM_021098.3(CACNA1H):c.4351-6C>T
|
rs377612703
|
0.00003
|
NM_021098.3(CACNA1H):c.4476+19C>T
|
rs780330955
|
0.00003
|
NM_021098.3(CACNA1H):c.4480C>T (p.Leu1494=)
|
rs575012566
|
0.00003
|
NM_021098.3(CACNA1H):c.4857C>T (p.Leu1619=)
|
rs774967938
|
0.00003
|
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=)
|
rs951676471
|
0.00003
|
NM_021098.3(CACNA1H):c.4929+20G>A
|
rs183848017
|
0.00003
|
NM_021098.3(CACNA1H):c.5039+18G>A
|
rs531198181
|
0.00003
|
NM_021098.3(CACNA1H):c.5116G>A (p.Ala1706Thr)
|
rs761499667
|
0.00003
|
NM_021098.3(CACNA1H):c.5175G>A (p.Val1725=)
|
rs1313601373
|
0.00003
|
NM_021098.3(CACNA1H):c.5245-7T>C
|
rs747958965
|
0.00003
|
NM_021098.3(CACNA1H):c.5254C>T (p.Leu1752=)
|
rs759289408
|
0.00003
|
NM_021098.3(CACNA1H):c.5364C>T (p.His1788=)
|
rs769283823
|
0.00003
|
NM_021098.3(CACNA1H):c.5394C>T (p.Phe1798=)
|
rs368056421
|
0.00003
|
NM_021098.3(CACNA1H):c.5446-5C>T
|
rs780634581
|
0.00003
|
NM_021098.3(CACNA1H):c.546-8G>A
|
rs530140454
|
0.00003
|
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu)
|
rs774551478
|
0.00003
|
NM_021098.3(CACNA1H):c.5634C>T (p.Ala1878=)
|
rs373353512
|
0.00003
|
NM_021098.3(CACNA1H):c.5718G>A (p.Pro1906=)
|
rs768615232
|
0.00003
|
NM_021098.3(CACNA1H):c.5776T>C (p.Ser1926Pro)
|
rs750470269
|
0.00003
|
NM_021098.3(CACNA1H):c.5841G>A (p.Pro1947=)
|
rs561421034
|
0.00003
|
NM_021098.3(CACNA1H):c.5913G>A (p.Pro1971=)
|
rs544401405
|
0.00003
|
NM_021098.3(CACNA1H):c.5961C>T (p.Ser1987=)
|
rs1001625167
|
0.00003
|
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=)
|
rs4609848
|
0.00003
|
NM_021098.3(CACNA1H):c.6049-4A>T
|
rs750777344
|
0.00003
|
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys)
|
rs777952986
|
0.00003
|
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr)
|
rs369917102
|
0.00003
|
NM_021098.3(CACNA1H):c.6201C>A (p.Val2067=)
|
rs754178400
|
0.00003
|
NM_021098.3(CACNA1H):c.6260G>T (p.Gly2087Val)
|
rs750666820
|
0.00003
|
NM_021098.3(CACNA1H):c.6318C>T (p.Ser2106=)
|
rs766725637
|
0.00003
|
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=)
|
rs753643337
|
0.00003
|
NM_021098.3(CACNA1H):c.643+13C>A
|
rs372696554
|
0.00003
|
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu)
|
rs780870706
|
0.00003
|
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr)
|
rs774116060
|
0.00003
|
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu)
|
rs756807176
|
0.00003
|
NM_021098.3(CACNA1H):c.6909G>A (p.Leu2303=)
|
rs767060522
|
0.00003
|
NM_021098.3(CACNA1H):c.732C>T (p.Phe244=)
|
rs373750945
|
0.00003
|
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=)
|
rs535504262
|
0.00003
|
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=)
|
rs779012601
|
0.00003
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
NM_000102.4(CYP17A1):c.654C>T (p.Val218=)
|
rs375350911
|
0.00002
|
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)
|
rs996323669
|
0.00002
|
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
|
rs777276628
|
0.00002
|
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=)
|
rs765770519
|
0.00002
|
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys)
|
rs562670189
|
0.00002
|
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu)
|
rs563073392
|
0.00002
|
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=)
|
rs759178574
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_001395413.1(POR):c.1143G>A (p.Pro381=)
|
rs375444057
|
0.00002
|
NM_001395413.1(POR):c.1389+10G>A
|
rs782345141
|
0.00002
|
NM_001395413.1(POR):c.1661-12C>T
|
rs369107420
|
0.00002
|
NM_001395413.1(POR):c.1661-20C>A
|
rs1335012473
|
0.00002
|
NM_001395413.1(POR):c.1881C>T (p.Tyr627=)
|
rs113741710
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001395413.1(POR):c.711C>T (p.Gly237=)
|
rs374115833
|
0.00002
|
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=)
|
rs368782176
|
0.00002
|
NM_013335.4(GMPPA):c.864C>T (p.Tyr288=)
|
rs781071244
|
0.00002
|
NM_015665.6(AAAS):c.234G>A (p.Lys78=)
|
rs145519240
|
0.00002
|
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=)
|
rs1338263000
|
0.00002
|
NM_021098.3(CACNA1H):c.1158C>T (p.Tyr386=)
|
rs369185990
|
0.00002
|
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile)
|
rs748551891
|
0.00002
|
NM_021098.3(CACNA1H):c.1179C>T (p.Phe393=)
|
rs939109422
|
0.00002
|
NM_021098.3(CACNA1H):c.1323G>A (p.Leu441=)
|
rs778972217
|
0.00002
|
NM_021098.3(CACNA1H):c.1395C>G (p.Gly465=)
|
rs758578051
|
0.00002
|
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)
|
rs769636919
|
0.00002
|
NM_021098.3(CACNA1H):c.1515C>T (p.Arg505=)
|
rs1421031870
|
0.00002
|
NM_021098.3(CACNA1H):c.1566T>C (p.His522=)
|
rs1396490901
|
0.00002
|
NM_021098.3(CACNA1H):c.1582C>T (p.His528Tyr)
|
rs990227397
|
0.00002
|
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu)
|
rs1430474816
|
0.00002
|
NM_021098.3(CACNA1H):c.1719C>T (p.His573=)
|
rs964041008
|
0.00002
|
NM_021098.3(CACNA1H):c.1863G>T (p.Val621=)
|
rs942222931
|
0.00002
|
NM_021098.3(CACNA1H):c.1929C>T (p.Thr643=)
|
rs370266192
|
0.00002
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
NM_021098.3(CACNA1H):c.2136T>C (p.Gly712=)
|
rs996560193
|
0.00002
|
NM_021098.3(CACNA1H):c.2169T>C (p.Asp723=)
|
rs374483400
|
0.00002
|
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val)
|
rs1039258079
|
0.00002
|
NM_021098.3(CACNA1H):c.2331C>T (p.Arg777=)
|
rs752099217
|
0.00002
|
NM_021098.3(CACNA1H):c.237C>G (p.Val79=)
|
rs994984264
|
0.00002
|
NM_021098.3(CACNA1H):c.2442C>T (p.Tyr814=)
|
rs758897141
|
0.00002
|
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=)
|
rs1348188346
|
0.00002
|
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=)
|
rs201227047
|
0.00002
|
NM_021098.3(CACNA1H):c.2584G>A (p.Gly862Ser)
|
rs747426357
|
0.00002
|
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=)
|
rs777961380
|
0.00002
|
NM_021098.3(CACNA1H):c.2907+10G>A
|
rs781264742
|
0.00002
|
NM_021098.3(CACNA1H):c.2919G>A (p.Gln973=)
|
rs1297223730
|
0.00002
|
NM_021098.3(CACNA1H):c.300-9C>T
|
rs546397615
|
0.00002
|
NM_021098.3(CACNA1H):c.3003C>T (p.Phe1001=)
|
rs761698159
|
0.00002
|
NM_021098.3(CACNA1H):c.3064-6G>A
|
rs1489099879
|
0.00002
|
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)
|
rs977157885
|
0.00002
|
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met)
|
rs1437402680
|
0.00002
|
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg)
|
rs763161866
|
0.00002
|
NM_021098.3(CACNA1H):c.3732C>T (p.Asp1244=)
|
rs755463348
|
0.00002
|
NM_021098.3(CACNA1H):c.3845+7C>T
|
rs371494399
|
0.00002
|
NM_021098.3(CACNA1H):c.3970-10C>T
|
rs377114648
|
0.00002
|
NM_021098.3(CACNA1H):c.4038+7C>T
|
rs745781473
|
0.00002
|
NM_021098.3(CACNA1H):c.4039-5C>T
|
rs750657572
|
0.00002
|
NM_021098.3(CACNA1H):c.4071C>T (p.His1357=)
|
rs763335539
|
0.00002
|
NM_021098.3(CACNA1H):c.4224-11C>T
|
rs371952675
|
0.00002
|
NM_021098.3(CACNA1H):c.42C>T (p.Pro14=)
|
rs1486745172
|
0.00002
|
NM_021098.3(CACNA1H):c.4351-13C>T
|
rs1428846125
|
0.00002
|
NM_021098.3(CACNA1H):c.4461C>T (p.Phe1487=)
|
rs767786667
|
0.00002
|
NM_021098.3(CACNA1H):c.4476+12G>A
|
rs757993233
|
0.00002
|
NM_021098.3(CACNA1H):c.4477-7C>T
|
rs984880682
|
0.00002
|
NM_021098.3(CACNA1H):c.4500G>A (p.Leu1500=)
|
rs374098971
|
0.00002
|
NM_021098.3(CACNA1H):c.450G>T (p.Glu150Asp)
|
rs753922811
|
0.00002
|
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=)
|
rs375199752
|
0.00002
|
NM_021098.3(CACNA1H):c.4764T>G (p.Thr1588=)
|
rs779044290
|
0.00002
|
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His)
|
rs760412982
|
0.00002
|
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys)
|
rs1315448028
|
0.00002
|
NM_021098.3(CACNA1H):c.4929+9G>A
|
rs758205516
|
0.00002
|
NM_021098.3(CACNA1H):c.5112C>T (p.Ser1704=)
|
rs748750792
|
0.00002
|
NM_021098.3(CACNA1H):c.5245-6G>A
|
rs549929595
|
0.00002
|
NM_021098.3(CACNA1H):c.5259C>T (p.Gly1753=)
|
rs764802620
|
0.00002
|
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=)
|
rs763776082
|
0.00002
|
NM_021098.3(CACNA1H):c.545+9C>T
|
rs779651648
|
0.00002
|
NM_021098.3(CACNA1H):c.5520C>T (p.Phe1840=)
|
rs899047966
|
0.00002
|
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser)
|
rs767275498
|
0.00002
|
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=)
|
rs764500957
|
0.00002
|
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile)
|
rs766939282
|
0.00002
|
NM_021098.3(CACNA1H):c.5892C>T (p.Ser1964=)
|
rs1303447893
|
0.00002
|
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu)
|
rs776422410
|
0.00002
|
NM_021098.3(CACNA1H):c.6345C>T (p.Ala2115=)
|
rs529859576
|
0.00002
|
NM_021098.3(CACNA1H):c.6361G>A (p.Glu2121Lys)
|
rs765011476
|
0.00002
|
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=)
|
rs780808265
|
0.00002
|
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser)
|
rs748564400
|
0.00002
|
NM_021098.3(CACNA1H):c.644-7C>T
|
rs545310896
|
0.00002
|
NM_021098.3(CACNA1H):c.6555G>A (p.Lys2185=)
|
rs528748865
|
0.00002
|
NM_021098.3(CACNA1H):c.6557A>T (p.Lys2186Met)
|
rs370464756
|
0.00002
|
NM_021098.3(CACNA1H):c.6588C>T (p.Pro2196=)
|
rs777569297
|
0.00002
|
NM_021098.3(CACNA1H):c.6810G>A (p.Pro2270=)
|
rs113064034
|
0.00002
|
NM_021098.3(CACNA1H):c.6933C>T (p.Pro2311=)
|
rs1385264146
|
0.00002
|
NM_021098.3(CACNA1H):c.823C>T (p.Leu275=)
|
rs778739975
|
0.00002
|
NM_021098.3(CACNA1H):c.876C>T (p.Ser292=)
|
rs376102066
|
0.00002
|
NM_021098.3(CACNA1H):c.906C>T (p.Cys302=)
|
rs554546755
|
0.00002
|
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=)
|
rs755050448
|
0.00001
|
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=)
|
rs535575638
|
0.00001
|
NM_000102.4(CYP17A1):c.318C>T (p.Ser106=)
|
rs766679884
|
0.00001
|
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=)
|
rs778591928
|
0.00001
|
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)
|
rs767147330
|
0.00001
|
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=)
|
rs374909270
|
0.00001
|
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)
|
rs751984843
|
0.00001
|
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)
|
rs587775183
|
0.00001
|
NM_000349.3(STAR):c.64+9T>C
|
rs761733155
|
0.00001
|
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)
|
rs990602963
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_000475.5(NR0B1):c.90A>G (p.Pro30=)
|
rs777399647
|
0.00001
|
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=)
|
rs776234575
|
0.00001
|
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=)
|
rs754660381
|
0.00001
|
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=)
|
rs775013399
|
0.00001
|
NM_000497.4(CYP11B1):c.270T>C (p.Cys90=)
|
rs778601992
|
0.00001
|
NM_000497.4(CYP11B1):c.396-9C>T
|
rs1324660372
|
0.00001
|
NM_000497.4(CYP11B1):c.596-8C>T
|
rs1201914437
|
0.00001
|
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=)
|
rs1377203108
|
0.00001
|
NM_000497.4(CYP11B1):c.948G>C (p.Val316=)
|
rs778295450
|
0.00001
|
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)
|
rs780052854
|
0.00001
|
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)
|
rs758377412
|
0.00001
|
NM_000890.5(KCNJ5):c.906G>T (p.Val302=)
|
rs533482437
|
0.00001
|
NM_001395413.1(POR):c.1029C>T (p.Asp343=)
|
rs201568454
|
0.00001
|
NM_001395413.1(POR):c.1057+11C>T
|
rs782029570
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1173G>A (p.Gln391=)
|
rs1220024534
|
0.00001
|
NM_001395413.1(POR):c.1240-16C>T
|
rs1266871005
|
0.00001
|
NM_001395413.1(POR):c.1374C>T (p.Ile458=)
|
rs1003383217
|
0.00001
|
NM_001395413.1(POR):c.1575C>T (p.Thr525=)
|
rs933264724
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1968G>A (p.Ala656=)
|
rs782446980
|
0.00001
|
NM_001395413.1(POR):c.2013C>T (p.Tyr671=)
|
rs1554559514
|
0.00001
|
NM_001395413.1(POR):c.438C>T (p.Thr146=)
|
rs782302163
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.825C>T (p.Pro275=)
|
rs782052242
|
0.00001
|
NM_004366.6(CLCN2):c.221-4C>A
|
rs748018356
|
0.00001
|
NM_004366.6(CLCN2):c.481+18G>A
|
rs759220889
|
0.00001
|
NM_004366.6(CLCN2):c.672C>T (p.Ser224=)
|
rs755629585
|
0.00001
|
NM_013335.4(GMPPA):c.336G>A (p.Val112=)
|
rs372560013
|
0.00001
|
NM_013335.4(GMPPA):c.447C>T (p.Ser149=)
|
rs749971952
|
0.00001
|
NM_013335.4(GMPPA):c.571T>C (p.Leu191=)
|
rs560095573
|
0.00001
|
NM_013335.4(GMPPA):c.783C>T (p.Tyr261=)
|
rs778374979
|
0.00001
|
NM_021098.3(CACNA1H):c.1007C>T (p.Ala336Val)
|
rs1482045966
|
0.00001
|
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg)
|
rs1171167857
|
0.00001
|
NM_021098.3(CACNA1H):c.1041C>T (p.Cys347=)
|
rs757510335
|
0.00001
|
NM_021098.3(CACNA1H):c.1086C>T (p.Asp362=)
|
rs1401076912
|
0.00001
|
NM_021098.3(CACNA1H):c.1120-4C>A
|
rs765058001
|
0.00001
|
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg)
|
rs770983743
|
0.00001
|
NM_021098.3(CACNA1H):c.1212+16A>G
|
rs1027399786
|
0.00001
|
NM_021098.3(CACNA1H):c.1212+19G>A
|
rs1261841681
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-13G>A
|
rs747424487
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-14C>T
|
rs1298937775
|
0.00001
|
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=)
|
rs751828544
|
0.00001
|
NM_021098.3(CACNA1H):c.1242C>T (p.Cys414=)
|
rs750964204
|
0.00001
|
NM_021098.3(CACNA1H):c.129G>A (p.Gly43=)
|
rs1286201611
|
0.00001
|
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=)
|
rs753868121
|
0.00001
|
NM_021098.3(CACNA1H):c.1321C>T (p.Leu441=)
|
rs889849697
|
0.00001
|
NM_021098.3(CACNA1H):c.1378C>T (p.Leu460=)
|
rs1164925886
|
0.00001
|
NM_021098.3(CACNA1H):c.1402T>C (p.Phe468Leu)
|
rs1275378306
|
0.00001
|
NM_021098.3(CACNA1H):c.1419G>A (p.Arg473=)
|
rs962535550
|
0.00001
|
NM_021098.3(CACNA1H):c.1428G>A (p.Leu476=)
|
rs955579974
|
0.00001
|
NM_021098.3(CACNA1H):c.150C>T (p.Pro50=)
|
rs1355571002
|
0.00001
|
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=)
|
rs1355615330
|
0.00001
|
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=)
|
rs1259091648
|
0.00001
|
NM_021098.3(CACNA1H):c.1695A>C (p.Gly565=)
|
rs1272259379
|
0.00001
|
NM_021098.3(CACNA1H):c.16C>A (p.Arg6=)
|
rs1257574455
|
0.00001
|
NM_021098.3(CACNA1H):c.1714G>A (p.Val572Met)
|
rs750654433
|
0.00001
|
NM_021098.3(CACNA1H):c.1716G>T (p.Val572=)
|
rs1324824751
|
0.00001
|
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg)
|
rs1318871844
|
0.00001
|
NM_021098.3(CACNA1H):c.174C>T (p.Arg58=)
|
rs1292472390
|
0.00001
|
NM_021098.3(CACNA1H):c.1763G>A (p.Arg588Lys)
|
rs1439734393
|
0.00001
|
NM_021098.3(CACNA1H):c.195C>T (p.Asp65=)
|
rs1052712888
|
0.00001
|
NM_021098.3(CACNA1H):c.1965T>C (p.Asp655=)
|
rs1182779689
|
0.00001
|
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu)
|
rs1474918637
|
0.00001
|
NM_021098.3(CACNA1H):c.1968C>T (p.Pro656=)
|
rs1163122575
|
0.00001
|
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=)
|
rs769960413
|
0.00001
|
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys)
|
rs772141645
|
0.00001
|
NM_021098.3(CACNA1H):c.2002+10C>T
|
rs1388783364
|
0.00001
|
NM_021098.3(CACNA1H):c.2003-18C>G
|
rs747207529
|
0.00001
|
NM_021098.3(CACNA1H):c.2175T>G (p.Arg725=)
|
rs1427937474
|
0.00001
|
NM_021098.3(CACNA1H):c.2178C>T (p.Gly726=)
|
rs565981897
|
0.00001
|
NM_021098.3(CACNA1H):c.2202C>G (p.Val734=)
|
rs1222128472
|
0.00001
|
NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln)
|
rs373764821
|
0.00001
|
NM_021098.3(CACNA1H):c.2238C>T (p.Pro746=)
|
rs747810957
|
0.00001
|
NM_021098.3(CACNA1H):c.2303C>T (p.Ala768Val)
|
rs957641440
|
0.00001
|
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=)
|
rs761519926
|
0.00001
|
NM_021098.3(CACNA1H):c.2382C>T (p.Tyr794=)
|
rs957047269
|
0.00001
|
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=)
|
rs745614463
|
0.00001
|
NM_021098.3(CACNA1H):c.2452-12C>T
|
rs762240161
|
0.00001
|
NM_021098.3(CACNA1H):c.2512C>T (p.Leu838=)
|
rs951038626
|
0.00001
|
NM_021098.3(CACNA1H):c.2524C>T (p.Leu842=)
|
rs561709486
|
0.00001
|
NM_021098.3(CACNA1H):c.2556C>T (p.Tyr852=)
|
rs1227539325
|
0.00001
|
NM_021098.3(CACNA1H):c.2560C>T (p.Arg854Trp)
|
rs200427760
|
0.00001
|
NM_021098.3(CACNA1H):c.2593G>A (p.Val865Met)
|
rs1305844490
|
0.00001
|
NM_021098.3(CACNA1H):c.2603+9C>A
|
rs1461999845
|
0.00001
|
NM_021098.3(CACNA1H):c.2604-18G>A
|
rs139666228
|
0.00001
|
NM_021098.3(CACNA1H):c.2724G>A (p.Leu908=)
|
rs958354749
|
0.00001
|
NM_021098.3(CACNA1H):c.2784C>T (p.Ile928=)
|
rs757421073
|
0.00001
|
NM_021098.3(CACNA1H):c.2789+16C>T
|
rs59952053
|
0.00001
|
NM_021098.3(CACNA1H):c.2789+9A>G
|
rs1968695390
|
0.00001
|
NM_021098.3(CACNA1H):c.2790-17C>T
|
rs1049605725
|
0.00001
|
NM_021098.3(CACNA1H):c.2790-9C>T
|
rs1477219178
|
0.00001
|
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=)
|
rs960703593
|
0.00001
|
NM_021098.3(CACNA1H):c.2835A>G (p.Thr945=)
|
rs770089825
|
0.00001
|
NM_021098.3(CACNA1H):c.2908-4C>T
|
rs937005376
|
0.00001
|
NM_021098.3(CACNA1H):c.2958C>T (p.Ser986=)
|
rs1030378085
|
0.00001
|
NM_021098.3(CACNA1H):c.2976C>T (p.Ala992=)
|
rs771600002
|
0.00001
|
NM_021098.3(CACNA1H):c.2991C>T (p.Ala997=)
|
rs1173690981
|
0.00001
|
NM_021098.3(CACNA1H):c.3025C>T (p.Leu1009=)
|
rs745927407
|
0.00001
|
NM_021098.3(CACNA1H):c.3036C>T (p.Ala1012=)
|
rs780009943
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-15C>T
|
rs371897810
|
0.00001
|
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=)
|
rs757098120
|
0.00001
|
NM_021098.3(CACNA1H):c.3102G>A (p.Thr1034=)
|
rs766896791
|
0.00001
|
NM_021098.3(CACNA1H):c.312C>T (p.His104=)
|
rs370735613
|
0.00001
|
NM_021098.3(CACNA1H):c.3155-15C>T
|
rs747740198
|
0.00001
|
NM_021098.3(CACNA1H):c.3155-18C>T
|
rs368193392
|
0.00001
|
NM_021098.3(CACNA1H):c.3252C>G (p.Pro1084=)
|
rs377223694
|
0.00001
|
NM_021098.3(CACNA1H):c.3262C>G (p.Pro1088Ala)
|
rs1358707581
|
0.00001
|
NM_021098.3(CACNA1H):c.3291C>T (p.Ala1097=)
|
rs368375074
|
0.00001
|
NM_021098.3(CACNA1H):c.3342A>G (p.Pro1114=)
|
rs540298431
|
0.00001
|
NM_021098.3(CACNA1H):c.3347G>A (p.Gly1116Glu)
|
rs757299200
|
0.00001
|
NM_021098.3(CACNA1H):c.3358C>T (p.Pro1120Ser)
|
rs781140245
|
0.00001
|
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg)
|
rs1431381776
|
0.00001
|
NM_021098.3(CACNA1H):c.3411C>T (p.Ala1137=)
|
rs1307971452
|
0.00001
|
NM_021098.3(CACNA1H):c.3445G>A (p.Gly1149Ser)
|
rs753696656
|
0.00001
|
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His)
|
rs772040768
|
0.00001
|
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=)
|
rs1244188050
|
0.00001
|
NM_021098.3(CACNA1H):c.3495C>T (p.Ser1165=)
|
rs1053534342
|
0.00001
|
NM_021098.3(CACNA1H):c.3501G>C (p.Leu1167=)
|
rs1272961811
|
0.00001
|
NM_021098.3(CACNA1H):c.3531C>T (p.Asp1177=)
|
rs954264851
|
0.00001
|
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr)
|
rs529108681
|
0.00001
|
NM_021098.3(CACNA1H):c.3593C>T (p.Ser1198Phe)
|
rs1337992114
|
0.00001
|
NM_021098.3(CACNA1H):c.3624C>T (p.Ala1208=)
|
rs760038394
|
0.00001
|
NM_021098.3(CACNA1H):c.3630G>A (p.Pro1210=)
|
rs764420422
|
0.00001
|
NM_021098.3(CACNA1H):c.3639G>A (p.Lys1213=)
|
rs750319717
|
0.00001
|
NM_021098.3(CACNA1H):c.3651C>T (p.Arg1217=)
|
rs929083218
|
0.00001
|
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=)
|
rs200922359
|
0.00001
|
NM_021098.3(CACNA1H):c.3675C>T (p.Pro1225=)
|
rs1454878776
|
0.00001
|
NM_021098.3(CACNA1H):c.36G>C (p.Arg12=)
|
rs1961896272
|
0.00001
|
NM_021098.3(CACNA1H):c.3702C>T (p.Ser1234=)
|
rs1176658784
|
0.00001
|
NM_021098.3(CACNA1H):c.3819C>T (p.Ala1273=)
|
rs746638277
|
0.00001
|
NM_021098.3(CACNA1H):c.3845+12G>A
|
rs1269104392
|
0.00001
|
NM_021098.3(CACNA1H):c.3845+9G>A
|
rs1357923086
|
0.00001
|
NM_021098.3(CACNA1H):c.3855C>T (p.Val1285=)
|
rs370662005
|
0.00001
|
NM_021098.3(CACNA1H):c.3894C>T (p.His1298=)
|
rs779815222
|
0.00001
|
NM_021098.3(CACNA1H):c.3903C>T (p.Leu1301=)
|
rs745990247
|
0.00001
|
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=)
|
rs929332183
|
0.00001
|
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=)
|
rs200353061
|
0.00001
|
NM_021098.3(CACNA1H):c.393G>A (p.Glu131=)
|
rs764502915
|
0.00001
|
NM_021098.3(CACNA1H):c.3972G>A (p.Glu1324=)
|
rs772220413
|
0.00001
|
NM_021098.3(CACNA1H):c.39G>A (p.Val13=)
|
rs1306573144
|
0.00001
|
NM_021098.3(CACNA1H):c.4005C>T (p.Phe1335=)
|
rs1196975977
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+8G>A
|
rs555282047
|
0.00001
|
NM_021098.3(CACNA1H):c.4039-11G>A
|
rs369310607
|
0.00001
|
NM_021098.3(CACNA1H):c.4039-8C>T
|
rs757467258
|
0.00001
|
NM_021098.3(CACNA1H):c.4086C>T (p.Ser1362=)
|
rs767588625
|
0.00001
|
NM_021098.3(CACNA1H):c.411+17G>A
|
rs905191886
|
0.00001
|
NM_021098.3(CACNA1H):c.412-13C>T
|
rs1481054800
|
0.00001
|
NM_021098.3(CACNA1H):c.412-4G>A
|
rs747026006
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+15G>A
|
rs751557016
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+8G>T
|
rs759696447
|
0.00001
|
NM_021098.3(CACNA1H):c.4290T>C (p.Ile1430=)
|
rs1596458193
|
0.00001
|
NM_021098.3(CACNA1H):c.4293G>A (p.Gly1431=)
|
rs759183838
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+15C>T
|
rs745322715
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+9C>A
|
rs1226634173
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-15G>A
|
rs1366007380
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-7C>T
|
rs757005584
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-9C>T
|
rs1268437341
|
0.00001
|
NM_021098.3(CACNA1H):c.4427C>T (p.Ala1476Val)
|
rs781394652
|
0.00001
|
NM_021098.3(CACNA1H):c.4467C>T (p.Asn1489=)
|
rs565030846
|
0.00001
|
NM_021098.3(CACNA1H):c.4476+16G>A
|
rs746670693
|
0.00001
|
NM_021098.3(CACNA1H):c.4527C>T (p.Ile1509=)
|
rs1384457303
|
0.00001
|
NM_021098.3(CACNA1H):c.453G>A (p.Met151Ile)
|
rs1490633400
|
0.00001
|
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=)
|
rs986374718
|
0.00001
|
NM_021098.3(CACNA1H):c.4567-16C>T
|
rs759275235
|
0.00001
|
NM_021098.3(CACNA1H):c.456C>T (p.Val152=)
|
rs778939514
|
0.00001
|
NM_021098.3(CACNA1H):c.4615C>T (p.Leu1539=)
|
rs1165174775
|
0.00001
|
NM_021098.3(CACNA1H):c.4704G>A (p.Glu1568=)
|
rs967037376
|
0.00001
|
NM_021098.3(CACNA1H):c.4710G>A (p.Ala1570=)
|
rs759616283
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-5T>A
|
rs1474686670
|
0.00001
|
NM_021098.3(CACNA1H):c.4773C>A (p.Ser1591Arg)
|
rs777805727
|
0.00001
|
NM_021098.3(CACNA1H):c.478C>T (p.Leu160=)
|
rs746919701
|
0.00001
|
NM_021098.3(CACNA1H):c.4794C>G (p.Pro1598=)
|
rs1442524100
|
0.00001
|
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys)
|
rs531597200
|
0.00001
|
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=)
|
rs576335604
|
0.00001
|
NM_021098.3(CACNA1H):c.4930-5C>T
|
rs1475010597
|
0.00001
|
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg)
|
rs749032674
|
0.00001
|
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=)
|
rs776954477
|
0.00001
|
NM_021098.3(CACNA1H):c.5010A>G (p.Ala1670=)
|
rs774645679
|
0.00001
|
NM_021098.3(CACNA1H):c.5052G>A (p.Leu1684=)
|
rs374459574
|
0.00001
|
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=)
|
rs779699766
|
0.00001
|
NM_021098.3(CACNA1H):c.5115C>T (p.Ala1705=)
|
rs773959483
|
0.00001
|
NM_021098.3(CACNA1H):c.5118G>A (p.Ala1706=)
|
rs777120591
|
0.00001
|
NM_021098.3(CACNA1H):c.5124C>A (p.Pro1708=)
|
rs765715871
|
0.00001
|
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=)
|
rs1182772693
|
0.00001
|
NM_021098.3(CACNA1H):c.5182C>T (p.Leu1728=)
|
rs1267755673
|
0.00001
|
NM_021098.3(CACNA1H):c.5211C>T (p.Ala1737=)
|
rs376540095
|
0.00001
|
NM_021098.3(CACNA1H):c.5217G>C (p.Leu1739=)
|
rs370996432
|
0.00001
|
NM_021098.3(CACNA1H):c.5238C>T (p.Leu1746=)
|
rs562034574
|
0.00001
|
NM_021098.3(CACNA1H):c.5268C>T (p.Phe1756=)
|
rs1309047669
|
0.00001
|
NM_021098.3(CACNA1H):c.5296C>T (p.Leu1766=)
|
rs1002262167
|
0.00001
|
NM_021098.3(CACNA1H):c.5324-14C>T
|
rs1047674521
|
0.00001
|
NM_021098.3(CACNA1H):c.5324-5C>T
|
rs1415182945
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-4G>A
|
rs1596475485
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-6C>A
|
rs923710949
|
0.00001
|
NM_021098.3(CACNA1H):c.545+10G>T
|
rs748867788
|
0.00001
|
NM_021098.3(CACNA1H):c.545+14G>A
|
rs1175410177
|
0.00001
|
NM_021098.3(CACNA1H):c.5451G>A (p.Thr1817=)
|
rs1458725860
|
0.00001
|
NM_021098.3(CACNA1H):c.546-5C>T
|
rs369016752
|
0.00001
|
NM_021098.3(CACNA1H):c.546-9C>T
|
rs375982567
|
0.00001
|
NM_021098.3(CACNA1H):c.5526C>T (p.Thr1842=)
|
rs375175536
|
0.00001
|
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=)
|
rs758391189
|
0.00001
|
NM_021098.3(CACNA1H):c.5550G>T (p.Val1850=)
|
rs1175007347
|
0.00001
|
NM_021098.3(CACNA1H):c.5571C>T (p.Ala1857=)
|
rs964898056
|
0.00001
|
NM_021098.3(CACNA1H):c.5577C>T (p.Leu1859=)
|
rs1305738018
|
0.00001
|
NM_021098.3(CACNA1H):c.561G>A (p.Ser187=)
|
rs762058094
|
0.00001
|
NM_021098.3(CACNA1H):c.5640C>T (p.Ile1880=)
|
rs757358788
|
0.00001
|
NM_021098.3(CACNA1H):c.5685C>T (p.Asp1895=)
|
rs1463806903
|
0.00001
|
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)
|
rs367594144
|
0.00001
|
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu)
|
rs750475467
|
0.00001
|
NM_021098.3(CACNA1H):c.5700C>A (p.Pro1900=)
|
rs546638839
|
0.00001
|
NM_021098.3(CACNA1H):c.5787C>T (p.Asn1929=)
|
rs747958775
|
0.00001
|
NM_021098.3(CACNA1H):c.5826G>A (p.Ala1942=)
|
rs750936189
|
0.00001
|
NM_021098.3(CACNA1H):c.5887+20G>A
|
rs759713896
|
0.00001
|
NM_021098.3(CACNA1H):c.5887+8A>G
|
rs1258785345
|
0.00001
|
NM_021098.3(CACNA1H):c.5888-9C>T
|
rs1970258800
|
0.00001
|
NM_021098.3(CACNA1H):c.5916C>T (p.Pro1972=)
|
rs979429805
|
0.00001
|
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=)
|
rs896695448
|
0.00001
|
NM_021098.3(CACNA1H):c.5952T>C (p.Ala1984=)
|
rs1472691681
|
0.00001
|
NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu)
|
rs1165393509
|
0.00001
|
NM_021098.3(CACNA1H):c.5973C>T (p.Ser1991=)
|
rs753397534
|
0.00001
|
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)
|
rs1357838162
|
0.00001
|
NM_021098.3(CACNA1H):c.601G>A (p.Val201Met)
|
rs773312766
|
0.00001
|
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)
|
rs766357140
|
0.00001
|
NM_021098.3(CACNA1H):c.6044G>A (p.Arg2015Lys)
|
rs1450150367
|
0.00001
|
NM_021098.3(CACNA1H):c.6049-9C>T
|
rs770614313
|
0.00001
|
NM_021098.3(CACNA1H):c.6135G>A (p.Pro2045=)
|
rs762582199
|
0.00001
|
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)
|
rs754154177
|
0.00001
|
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys)
|
rs758461760
|
0.00001
|
NM_021098.3(CACNA1H):c.6258A>G (p.Pro2086=)
|
rs781453065
|
0.00001
|
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr)
|
rs570207081
|
0.00001
|
NM_021098.3(CACNA1H):c.6265G>C (p.Glu2089Gln)
|
rs942767507
|
0.00001
|
NM_021098.3(CACNA1H):c.6271G>T (p.Ala2091Ser)
|
rs749106645
|
0.00001
|
NM_021098.3(CACNA1H):c.6282G>A (p.Ser2094=)
|
rs770576341
|
0.00001
|
NM_021098.3(CACNA1H):c.6291C>T (p.Ala2097=)
|
rs372174504
|
0.00001
|
NM_021098.3(CACNA1H):c.6294C>T (p.Asp2098=)
|
rs764545961
|
0.00001
|
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val)
|
rs778892614
|
0.00001
|
NM_021098.3(CACNA1H):c.6327C>T (p.Cys2109=)
|
rs777082647
|
0.00001
|
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile)
|
rs774915687
|
0.00001
|
NM_021098.3(CACNA1H):c.636C>T (p.Arg212=)
|
rs748157994
|
0.00001
|
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu)
|
rs372453886
|
0.00001
|
NM_021098.3(CACNA1H):c.6372G>A (p.Pro2124=)
|
rs756801348
|
0.00001
|
NM_021098.3(CACNA1H):c.6375G>C (p.Val2125=)
|
rs964390335
|
0.00001
|
NM_021098.3(CACNA1H):c.6390G>A (p.Arg2130=)
|
rs1462959015
|
0.00001
|
NM_021098.3(CACNA1H):c.63C>T (p.Gly21=)
|
rs1261320353
|
0.00001
|
NM_021098.3(CACNA1H):c.643+10C>T
|
rs776343389
|
0.00001
|
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=)
|
rs759684037
|
0.00001
|
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=)
|
rs1555520987
|
0.00001
|
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=)
|
rs113962757
|
0.00001
|
NM_021098.3(CACNA1H):c.6492G>A (p.Glu2164=)
|
rs768879342
|
0.00001
|
NM_021098.3(CACNA1H):c.6495T>C (p.Pro2165=)
|
rs773249106
|
0.00001
|
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg)
|
rs746446797
|
0.00001
|
NM_021098.3(CACNA1H):c.6534T>C (p.Ala2178=)
|
rs760596901
|
0.00001
|
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)
|
rs776161185
|
0.00001
|
NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn)
|
rs898257627
|
0.00001
|
NM_021098.3(CACNA1H):c.6567C>T (p.Pro2189=)
|
rs1453508883
|
0.00001
|
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser)
|
rs746807446
|
0.00001
|
NM_021098.3(CACNA1H):c.6612G>A (p.Ala2204=)
|
rs757987443
|
0.00001
|
NM_021098.3(CACNA1H):c.6645A>G (p.Thr2215=)
|
rs1402669757
|
0.00001
|
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr)
|
rs1264293762
|
0.00001
|
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp)
|
rs764354954
|
0.00001
|
NM_021098.3(CACNA1H):c.6694C>T (p.Leu2232=)
|
rs1366621639
|
0.00001
|
NM_021098.3(CACNA1H):c.6714A>T (p.Ser2238=)
|
rs1970410954
|
0.00001
|
NM_021098.3(CACNA1H):c.6768C>T (p.Cys2256=)
|
rs902663333
|
0.00001
|
NM_021098.3(CACNA1H):c.6771G>T (p.Arg2257=)
|
rs763302946
|
0.00001
|
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=)
|
rs1176114621
|
0.00001
|
NM_021098.3(CACNA1H):c.678G>A (p.Thr226=)
|
rs367793790
|
0.00001
|
NM_021098.3(CACNA1H):c.6819C>T (p.Leu2273=)
|
rs746731481
|
0.00001
|
NM_021098.3(CACNA1H):c.6846G>A (p.Leu2282=)
|
rs58394025
|
0.00001
|
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=)
|
rs993061665
|
0.00001
|
NM_021098.3(CACNA1H):c.7002G>A (p.Glu2334=)
|
rs1006975748
|
0.00001
|
NM_021098.3(CACNA1H):c.714C>T (p.Phe238=)
|
rs748186171
|
0.00001
|
NM_021098.3(CACNA1H):c.738C>T (p.Ile246=)
|
rs762427859
|
0.00001
|
NM_021098.3(CACNA1H):c.741T>C (p.Val247=)
|
rs952784900
|
0.00001
|
NM_021098.3(CACNA1H):c.759T>C (p.Ala253=)
|
rs1425714661
|
0.00001
|
NM_021098.3(CACNA1H):c.784C>T (p.Leu262=)
|
rs770443592
|
0.00001
|
NM_021098.3(CACNA1H):c.803+19C>T
|
rs538938996
|
0.00001
|
NM_021098.3(CACNA1H):c.803+7del
|
rs1478115948
|
0.00001
|
NM_021098.3(CACNA1H):c.804-4C>T
|
rs905366458
|
0.00001
|
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=)
|
rs747311145
|
0.00001
|
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser)
|
rs201911360
|
0.00001
|
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=)
|
rs761655532
|
0.00001
|
NM_021098.3(CACNA1H):c.909G>A (p.Ser303=)
|
rs771877421
|
0.00001
|
NM_021098.3(CACNA1H):c.954C>G (p.Gly318=)
|
rs1330712942
|
0.00001
|
NM_021098.3(CACNA1H):c.969G>A (p.Thr323=)
|
rs564108356
|
0.00001
|
NM_021098.3(CACNA1H):c.99C>G (p.Pro33=)
|
rs778266598
|
0.00001
|
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=)
|
rs61754264
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=)
|
rs150698224
|
|
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)
|
rs116342586
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)
|
rs757957605
|
|
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)
|
rs1040579140
|
|
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=)
|
rs1292390178
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000349.3(STAR):c.158G>T (p.Arg53Leu)
|
rs529036391
|
|
NM_000349.3(STAR):c.720G>C (p.Thr240=)
|
rs768179486
|
|
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
|
|
|
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
|
|
|
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
|
|
|
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
|
|
|
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
|
|
|
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
|
|
|
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
|
|
|
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
|
|
|
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
|
|
|
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
|
|
|
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
|
|
|
NM_000475.5(NR0B1):c.1168+13dup
|
|
|
NM_000475.5(NR0B1):c.1168+7G>T
|
|
|
NM_000475.5(NR0B1):c.1169-10C>T
|
|
|
NM_000475.5(NR0B1):c.1169-8C>A
|
|
|
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
|
|
|
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
|
|
|
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
|
|
|
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
|
|
|
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
|
|
|
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
|
|
|
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
|
|
|
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
|
|
|
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
|
|
|
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
|
|
|
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
|
|
|
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=)
|
rs2147004349
|
|
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
|
|
|
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
|
|
|
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
|
|
|
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
|
|
|
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
|
|
|
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
|
|
|
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
|
|
|
NM_000475.5(NR0B1):c.18C>T (p.His6=)
|
|
|
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
|
|
|
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
|
|
|
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
|
|
|
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
|
|
|
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
|
|
|
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
|
|
|
NM_000475.5(NR0B1):c.237C>A (p.Ile79=)
|
rs2147007339
|
|
NM_000475.5(NR0B1):c.252G>C (p.Leu84=)
|
rs1192762456
|
|
NM_000475.5(NR0B1):c.255G>T (p.Thr85=)
|
rs759371222
|
|
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
|
|
|
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
|
|
|
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
|
|
|
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
|
|
|
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
|
|
|
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
|
|
|
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
|
|
|
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
|
|
|
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
|
|
|
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
|
|
|
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
|
|
|
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
|
|
|
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
|
|
|
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
|
|
|
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
|
|
|
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
|
|
|
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
|
|
|
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
|
|
|
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
|
|
|
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
|
|
|
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
|
|
|
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
|
|
|
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
|
|
|
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
|
|
|
NM_000475.5(NR0B1):c.471C>T (p.His157=)
|
|
|
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
|
|
|
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
|
|
|
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
|
|
|
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
|
|
|
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
|
|
|
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
|
|
|
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
|
|
|
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
|
|
|
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
|
|
|
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
|
|
|
NM_000475.5(NR0B1):c.582G>C (p.Ala194=)
|
rs1275730944
|
|
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
|
|
|
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
|
|
|
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
|
|
|
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
|
|
|
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
|
|
|
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
|
|
|
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
|
|
|
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
|
|
|
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
|
|
|
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
|
|
|
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
|
|
|
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
|
|
|
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
|
|
|
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
|
|
|
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
|
|
|
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
|
|
|
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
|
|
|
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
|
|
|
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
|
|
|
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
|
|
|
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
|
|
|
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
|
|
|
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
|
|
|
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
|
|
|
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
|
|
|
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
|
|
|
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
|
|
|
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
|
|
|
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
|
|
|
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
|
|
|
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
|
|
|
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
|
|
|
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
|
|
|
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
|
|
|
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
|
|
|
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
|
|
|
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
|
|
|
NM_000497.4(CYP11B1):c.*1555del
|
rs548944247
|
|
NM_000497.4(CYP11B1):c.*193A>C
|
rs61752798
|
|
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=)
|
rs61752786
|
|
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=)
|
rs4998902
|
|
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)
|
rs776766470
|
|
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)
|
rs61751154
|
|
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=)
|
rs199525592
|
|
NM_000497.4(CYP11B1):c.954+9G>C
|
rs6411
|
|
NM_000498.3(CYP11B2):c.*1246_*1248del
|
rs576148290
|
|
NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp)
|
rs760339298
|
|
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)
|
rs193922543
|
|
NM_000500.9(CYP21A2):c.292+45_292+46insTGT
|
rs1422458709
|
|
NM_000500.9(CYP21A2):c.293-136C>T
|
rs1582301685
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)
|
rs7118824
|
|
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA
|
rs2136003778
|
|
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del)
|
rs72556363
|
|
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=)
|
rs767458712
|
|
NM_001395413.1(POR):c.1000C>T (p.Leu334=)
|
|
|
NM_001395413.1(POR):c.1023C>T (p.Asp341=)
|
|
|
NM_001395413.1(POR):c.102C>T (p.Ile34=)
|
rs371758475
|
|
NM_001395413.1(POR):c.1032C>T (p.Val344=)
|
|
|
NM_001395413.1(POR):c.1051C>T (p.Leu351=)
|
|
|
NM_001395413.1(POR):c.1053G>A (p.Leu351=)
|
|
|
NM_001395413.1(POR):c.1057+11C>G
|
|
|
NM_001395413.1(POR):c.1057+11_1057+12del
|
|
|
NM_001395413.1(POR):c.1057+12A>C
|
|
|
NM_001395413.1(POR):c.1057+17G>A
|
|
|
NM_001395413.1(POR):c.1057+18G>A
|
|
|
NM_001395413.1(POR):c.1058-4G>A
|
|
|
NM_001395413.1(POR):c.1068C>T (p.Asn356=)
|
|
|
NM_001395413.1(POR):c.1086G>A (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>C (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1086G>T (p.Pro362=)
|
|
|
NM_001395413.1(POR):c.1089C>T (p.Cys363=)
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1107G>A (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1107G>C (p.Thr369=)
|
|
|
NM_001395413.1(POR):c.1110C>T (p.Ala370=)
|
|
|
NM_001395413.1(POR):c.111C>T (p.Leu37=)
|
|
|
NM_001395413.1(POR):c.1125G>A (p.Leu375=)
|
rs112719660
|
|
NM_001395413.1(POR):c.1140G>A (p.Pro380=)
|
|
|
NM_001395413.1(POR):c.1149C>G (p.Thr383=)
|
|
|
NM_001395413.1(POR):c.1161C>T (p.Tyr387=)
|
|
|
NM_001395413.1(POR):c.1170G>A (p.Ala390=)
|
|
|
NM_001395413.1(POR):c.1182G>T (p.Ser394=)
|
|
|
NM_001395413.1(POR):c.1188C>T (p.Pro396=)
|
|
|
NM_001395413.1(POR):c.1194G>A (p.Glu398=)
|
|
|
NM_001395413.1(POR):c.1201C>T (p.Leu401=)
|
|
|
NM_001395413.1(POR):c.1209C>G (p.Arg403=)
|
|
|
NM_001395413.1(POR):c.1218C>G (p.Ala406=)
|
|
|
NM_001395413.1(POR):c.1224C>G (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1224C>T (p.Ser408=)
|
|
|
NM_001395413.1(POR):c.1239+11_1239+19del
|
rs782775039
|
|
NM_001395413.1(POR):c.1239+14_1239+22del
|
|
|
NM_001395413.1(POR):c.1239+15C>T
|
|
|
NM_001395413.1(POR):c.1239+16C>T
|
|
|
NM_001395413.1(POR):c.1239+17C>T
|
|
|
NM_001395413.1(POR):c.1239+18C>T
|
|
|
NM_001395413.1(POR):c.1239+19C>T
|
|
|
NM_001395413.1(POR):c.1240-11G>A
|
|
|
NM_001395413.1(POR):c.1240-11G>C
|
|
|
NM_001395413.1(POR):c.1240-12C>T
|
rs1208139617
|
|
NM_001395413.1(POR):c.1240-14C>A
|
|
|
NM_001395413.1(POR):c.1240-15C>T
|
|
|
NM_001395413.1(POR):c.1240-5C>T
|
rs2116624933
|
|
NM_001395413.1(POR):c.1240-7C>T
|
|
|
NM_001395413.1(POR):c.1245G>T (p.Leu415=)
|
|
|
NM_001395413.1(POR):c.1251G>C (p.Leu417=)
|
|
|
NM_001395413.1(POR):c.1254C>T (p.Ser418=)
|
rs1392235928
|
|
NM_001395413.1(POR):c.1287C>A (p.Ala429=)
|
|
|
NM_001395413.1(POR):c.1320C>T (p.Pro440=)
|
|
|
NM_001395413.1(POR):c.1323C>T (p.Ile441=)
|
|
|
NM_001395413.1(POR):c.1347G>A (p.Pro449=)
|
|
|
NM_001395413.1(POR):c.1353G>C (p.Leu451=)
|
|
|
NM_001395413.1(POR):c.1356G>A (p.Gln452=)
|
|
|
NM_001395413.1(POR):c.1359C>T (p.Ala453=)
|
|
|
NM_001395413.1(POR):c.1380A>G (p.Ser460=)
|
|
|
NM_001395413.1(POR):c.1386C>T (p.Ser462=)
|
|
|
NM_001395413.1(POR):c.1389+12C>T
|
|
|
NM_001395413.1(POR):c.1389+18C>G
|
|
|
NM_001395413.1(POR):c.1389+19C>T
|
|
|
NM_001395413.1(POR):c.1390-12C>G
|
|
|
NM_001395413.1(POR):c.1390-15C>T
|
|
|
NM_001395413.1(POR):c.1390-4A>C
|
|
|
NM_001395413.1(POR):c.1390-5C>A
|
|
|
NM_001395413.1(POR):c.1392C>A (p.Val464=)
|
|
|
NM_001395413.1(POR):c.1395C>T (p.His465=)
|
|
|
NM_001395413.1(POR):c.1398C>T (p.Pro466=)
|
|
|
NM_001395413.1(POR):c.1405G>A (p.Val469Met)
|
rs72557946
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.1410C>T (p.His470=)
|
|
|
NM_001395413.1(POR):c.1422G>C (p.Val474=)
|
|
|
NM_001395413.1(POR):c.1428G>A (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1428G>C (p.Val476=)
|
|
|
NM_001395413.1(POR):c.1434C>T (p.Tyr478=)
|
|
|
NM_001395413.1(POR):c.143AAG[2] (p.Glu50del)
|
rs72553987
|
|
NM_001395413.1(POR):c.1446T>A (p.Ala482=)
|
|
|
NM_001395413.1(POR):c.1464C>T (p.Gly488=)
|
|
|
NM_001395413.1(POR):c.1470C>G (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1470C>T (p.Ala490=)
|
|
|
NM_001395413.1(POR):c.1482G>A (p.Leu494=)
|
rs370326231
|
|
NM_001395413.1(POR):c.1500C>T (p.Ala500=)
|
|
|
NM_001395413.1(POR):c.1506G>A (p.Glu502=)
|
|
|
NM_001395413.1(POR):c.1512C>G (p.Gly504=)
|
|
|
NM_001395413.1(POR):c.1524G>A (p.Leu508=)
|
|
|
NM_001395413.1(POR):c.1530C>T (p.Pro510=)
|
|
|
NM_001395413.1(POR):c.1536C>T (p.Phe512=)
|
|
|
NM_001395413.1(POR):c.153C>T (p.Val51=)
|
|
|
NM_001395413.1(POR):c.1548C>T (p.Ser516=)
|
|
|
NM_001395413.1(POR):c.1563C>T (p.Pro521=)
|
|
|
NM_001395413.1(POR):c.156C>T (p.Pro52=)
|
rs782368623
|
|
NM_001395413.1(POR):c.1572C>T (p.Ala524=)
|
|
|
NM_001395413.1(POR):c.1575C>A (p.Thr525=)
|
|
|
NM_001395413.1(POR):c.1593G>T (p.Val531=)
|
|
|
NM_001395413.1(POR):c.1599C>T (p.Pro533=)
|
|
|
NM_001395413.1(POR):c.15C>T (p.His5=)
|
|
|
NM_001395413.1(POR):c.1605C>T (p.Thr535=)
|
|
|
NM_001395413.1(POR):c.1623A>C (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1623A>T (p.Ile541=)
|
|
|
NM_001395413.1(POR):c.1629C>T (p.Phe543=)
|
|
|
NM_001395413.1(POR):c.1638G>A (p.Glu546=)
|
|
|
NM_001395413.1(POR):c.1653A>G (p.Arg551=)
|
|
|
NM_001395413.1(POR):c.1660+10G>T
|
|
|
NM_001395413.1(POR):c.1660+12C>A
|
|
|
NM_001395413.1(POR):c.1660+16T>C
|
|
|
NM_001395413.1(POR):c.1660+16T>G
|
|
|
NM_001395413.1(POR):c.1660+17G>A
|
|
|
NM_001395413.1(POR):c.1660+17G>C
|
|
|
NM_001395413.1(POR):c.1660+8G>C
|
|
|
NM_001395413.1(POR):c.1660+9G>A
|
rs1554559215
|
|
NM_001395413.1(POR):c.1661-10T>G
|
|
|
NM_001395413.1(POR):c.1661-13C>T
|
|
|
NM_001395413.1(POR):c.1661-19C>T
|
|
|
NM_001395413.1(POR):c.1661-5C>T
|
|
|
NM_001395413.1(POR):c.1661-7C>A
|
|
|
NM_001395413.1(POR):c.1661-7C>G
|
|
|
NM_001395413.1(POR):c.1671G>T (p.Val557=)
|
|
|
NM_001395413.1(POR):c.1674G>A (p.Gly558=)
|
|
|
NM_001395413.1(POR):c.1680G>A (p.Thr560=)
|
|
|
NM_001395413.1(POR):c.1689C>T (p.Tyr563=)
|
|
|
NM_001395413.1(POR):c.1692C>T (p.Tyr564=)
|
|
|
NM_001395413.1(POR):c.1722G>A (p.Leu574=)
|
rs1554559285
|
|
NM_001395413.1(POR):c.1725C>T (p.Tyr575=)
|
|
|
NM_001395413.1(POR):c.1731G>A (p.Glu577=)
|
|
|
NM_001395413.1(POR):c.1740G>A (p.Ala580=)
|
|
|
NM_001395413.1(POR):c.1752G>A (p.Arg584=)
|
|
|
NM_001395413.1(POR):c.1761G>A (p.Ala587=)
|
|
|
NM_001395413.1(POR):c.1767C>A (p.Thr589=)
|
|
|
NM_001395413.1(POR):c.1773C>T (p.Leu591=)
|
|
|
NM_001395413.1(POR):c.1782C>T (p.Ala594=)
|
|
|
NM_001395413.1(POR):c.1785C>T (p.Phe595=)
|
|
|
NM_001395413.1(POR):c.179+10G>A
|
|
|
NM_001395413.1(POR):c.179+14C>G
|
|
|
NM_001395413.1(POR):c.179+14C>T
|
|
|
NM_001395413.1(POR):c.179+15_179+16del
|
|
|
NM_001395413.1(POR):c.179+16C>G
|
|
|
NM_001395413.1(POR):c.179+9C>T
|
|
|
NM_001395413.1(POR):c.1791G>A (p.Arg597=)
|
|
|
NM_001395413.1(POR):c.180-15_180-14del
|
|
|
NM_001395413.1(POR):c.180-18C>T
|
|
|
NM_001395413.1(POR):c.180-5T>C
|
|
|
NM_001395413.1(POR):c.180-8T>C
|
|
|
NM_001395413.1(POR):c.1806+10G>T
|
|
|
NM_001395413.1(POR):c.1806+11C>T
|
|
|
NM_001395413.1(POR):c.1806+15C>A
|
|
|
NM_001395413.1(POR):c.1806+15C>G
|
|
|
NM_001395413.1(POR):c.1806+9G>C
|
|
|
NM_001395413.1(POR):c.1807-15C>T
|
|
|
NM_001395413.1(POR):c.1807-4C>T
|
|
|
NM_001395413.1(POR):c.1807-8G>C
|
|
|
NM_001395413.1(POR):c.1809C>G (p.Val603=)
|
|
|
NM_001395413.1(POR):c.1812C>T (p.Tyr604=)
|
|
|
NM_001395413.1(POR):c.1815C>G (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1815C>T (p.Val605=)
|
|
|
NM_001395413.1(POR):c.1818G>A (p.Gln606=)
|
|
|
NM_001395413.1(POR):c.1825C>T (p.Leu609=)
|
|
|
NM_001395413.1(POR):c.1830G>A (p.Lys610=)
|
|
|
NM_001395413.1(POR):c.1855T>C (p.Leu619=)
|
|
|
NM_001395413.1(POR):c.1860C>A (p.Ile620=)
|
rs553145252
|
|
NM_001395413.1(POR):c.1860C>T (p.Ile620=)
|
|
|
NM_001395413.1(POR):c.1866C>T (p.Gly622=)
|
|
|
NM_001395413.1(POR):c.1869T>C (p.Gly623=)
|
|
|
NM_001395413.1(POR):c.186C>G (p.Ser62=)
|
|
|
NM_001395413.1(POR):c.1889+7G>A
|
|
|
NM_001395413.1(POR):c.1889+8A>C
|
|
|
NM_001395413.1(POR):c.1889+8_1889+11del
|
rs782708898
|
|
NM_001395413.1(POR):c.1889+9G>T
|
rs782024811
|
|
NM_001395413.1(POR):c.1890-11T>A
|
|
|
NM_001395413.1(POR):c.1890-12_1890-11del
|
|
|
NM_001395413.1(POR):c.1890-12dup
|
|
|
NM_001395413.1(POR):c.1890-13T>C
|
|
|
NM_001395413.1(POR):c.1890-14C>G
|
|
|
NM_001395413.1(POR):c.1890-17C>A
|
|
|
NM_001395413.1(POR):c.1890-19A>C
|
|
|
NM_001395413.1(POR):c.1890-20C>T
|
|
|
NM_001395413.1(POR):c.1890-6G>A
|
|
|
NM_001395413.1(POR):c.1890-8C>T
|
|
|
NM_001395413.1(POR):c.1896A>T (p.Ala632=)
|
|
|
NM_001395413.1(POR):c.1897C>A (p.Arg633=)
|
|
|
NM_001395413.1(POR):c.1923C>T (p.Asn641=)
|
|
|
NM_001395413.1(POR):c.1932C>T (p.Tyr644=)
|
|
|
NM_001395413.1(POR):c.1935C>T (p.Asp645=)
|
|
|
NM_001395413.1(POR):c.1938C>T (p.Ile646=)
|
|
|
NM_001395413.1(POR):c.1950C>A (p.Leu650=)
|
|
|
NM_001395413.1(POR):c.1953G>A (p.Gly651=)
|
|
|
NM_001395413.1(POR):c.1956C>T (p.Ala652=)
|
|
|
NM_001395413.1(POR):c.1965C>T (p.His655=)
|
|
|
NM_001395413.1(POR):c.1968G>T (p.Ala656=)
|
|
|
NM_001395413.1(POR):c.1977G>A (p.Val659=)
|
|
|
NM_001395413.1(POR):c.1980C>T (p.Asp660=)
|
|
|
NM_001395413.1(POR):c.1995G>A (p.Leu665=)
|
|
|
NM_001395413.1(POR):c.2010C>A (p.Arg670=)
|
|
|
NM_001395413.1(POR):c.2010C>T (p.Arg670=)
|
|
|
NM_001395413.1(POR):c.2022C>T (p.Asp674=)
|
|
|
NM_001395413.1(POR):c.2025G>A (p.Val675=)
|
|
|
NM_001395413.1(POR):c.2031C>T (p.Ser677=)
|
|
|
NM_001395413.1(POR):c.228+14A>G
|
|
|
NM_001395413.1(POR):c.228+20T>C
|
|
|
NM_001395413.1(POR):c.228+20T>G
|
|
|
NM_001395413.1(POR):c.229-10C>T
|
|
|
NM_001395413.1(POR):c.229-11G>A
|
|
|
NM_001395413.1(POR):c.229-13C>T
|
|
|
NM_001395413.1(POR):c.229-15G>A
|
|
|
NM_001395413.1(POR):c.229-15_229-14del
|
|
|
NM_001395413.1(POR):c.229-16T>G
|
|
|
NM_001395413.1(POR):c.229-17G>A
|
|
|
NM_001395413.1(POR):c.229-19C>G
|
|
|
NM_001395413.1(POR):c.229-19C>T
|
|
|
NM_001395413.1(POR):c.229-19_229-18del
|
|
|
NM_001395413.1(POR):c.229-8T>C
|
|
|
NM_001395413.1(POR):c.229-9C>G
|
|
|
NM_001395413.1(POR):c.237C>T (p.Asn79=)
|
rs1585126959
|
|
NM_001395413.1(POR):c.240C>A (p.Ile80=)
|
|
|
NM_001395413.1(POR):c.243C>T (p.Ile81=)
|
|
|
NM_001395413.1(POR):c.246G>T (p.Val82=)
|
|
|
NM_001395413.1(POR):c.252C>T (p.Tyr84=)
|
|
|
NM_001395413.1(POR):c.264G>A (p.Thr88=)
|
|
|
NM_001395413.1(POR):c.270T>C (p.Thr90=)
|
|
|
NM_001395413.1(POR):c.285C>T (p.Ala95=)
|
rs1554557307
|
|
NM_001395413.1(POR):c.291C>A (p.Arg97=)
|
|
|
NM_001395413.1(POR):c.300G>A (p.Lys100=)
|
|
|
NM_001395413.1(POR):c.303C>T (p.Asp101=)
|
|
|
NM_001395413.1(POR):c.336G>A (p.Ala112=)
|
|
|
NM_001395413.1(POR):c.33C>T (p.Thr11=)
|
|
|
NM_001395413.1(POR):c.345G>A (p.Glu115=)
|
|
|
NM_001395413.1(POR):c.348G>A (p.Glu116=)
|
|
|
NM_001395413.1(POR):c.357+13C>T
|
|
|
NM_001395413.1(POR):c.357+15C>T
|
|
|
NM_001395413.1(POR):c.357+16G>A
|
|
|
NM_001395413.1(POR):c.357+16G>T
|
rs782083860
|
|
NM_001395413.1(POR):c.357+18G>A
|
|
|
NM_001395413.1(POR):c.357+18G>C
|
|
|
NM_001395413.1(POR):c.357+8G>A
|
|
|
NM_001395413.1(POR):c.358-12_358-11del
|
|
|
NM_001395413.1(POR):c.358-14C>G
|
|
|
NM_001395413.1(POR):c.358-18C>G
|
|
|
NM_001395413.1(POR):c.358-5T>C
|
|
|
NM_001395413.1(POR):c.358-9_358-4del
|
|
|
NM_001395413.1(POR):c.364C>T (p.Leu122=)
|
|
|
NM_001395413.1(POR):c.366G>A (p.Leu122=)
|
|
|
NM_001395413.1(POR):c.36G>A (p.Val12=)
|
rs781862803
|
|
NM_001395413.1(POR):c.384C>T (p.Ile128=)
|
rs782166276
|
|
NM_001395413.1(POR):c.39C>T (p.Ser13=)
|
|
|
NM_001395413.1(POR):c.408C>T (p.Cys136=)
|
|
|
NM_001395413.1(POR):c.423T>C (p.Gly141=)
|
|
|
NM_001395413.1(POR):c.447C>T (p.Ala149=)
|
|
|
NM_001395413.1(POR):c.450G>A (p.Gln150=)
|
|
|
NM_001395413.1(POR):c.453C>T (p.Asp151=)
|
|
|
NM_001395413.1(POR):c.459C>T (p.Tyr153=)
|
|
|
NM_001395413.1(POR):c.477A>G (p.Thr159=)
|
|
|
NM_001395413.1(POR):c.480C>T (p.Asp160=)
|
|
|
NM_001395413.1(POR):c.483G>A (p.Val161=)
|
|
|
NM_001395413.1(POR):c.498C>T (p.Val166=)
|
|
|
NM_001395413.1(POR):c.507+18T>G
|
|
|
NM_001395413.1(POR):c.508-13T>C
|
|
|
NM_001395413.1(POR):c.508-19G>A
|
|
|
NM_001395413.1(POR):c.508-19G>T
|
|
|
NM_001395413.1(POR):c.508-5C>T
|
|
|
NM_001395413.1(POR):c.508-7C>T
|
|
|
NM_001395413.1(POR):c.516T>C (p.Gly172=)
|
|
|
NM_001395413.1(POR):c.519T>C (p.Leu173=)
|
|
|
NM_001395413.1(POR):c.51C>G (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.51C>T (p.Ala17=)
|
|
|
NM_001395413.1(POR):c.522G>C (p.Gly174=)
|
|
|
NM_001395413.1(POR):c.531C>T (p.Thr177=)
|
rs782409308
|
|
NM_001395413.1(POR):c.534C>T (p.Tyr178=)
|
|
|
NM_001395413.1(POR):c.540C>T (p.His180=)
|
|
|
NM_001395413.1(POR):c.546T>C (p.Asn182=)
|
|
|
NM_001395413.1(POR):c.549C>T (p.Ala183=)
|
|
|
NM_001395413.1(POR):c.561C>T (p.Tyr187=)
|
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.585C>T (p.Leu195=)
|
|
|
NM_001395413.1(POR):c.588C>A (p.Gly196=)
|
|
|
NM_001395413.1(POR):c.600C>T (p.Ile200=)
|
|
|
NM_001395413.1(POR):c.60A>G (p.Val20=)
|
|
|
NM_001395413.1(POR):c.612G>A (p.Gly204=)
|
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001395413.1(POR):c.618C>T (p.Gly206=)
|
|
|
NM_001395413.1(POR):c.621C>T (p.Asp207=)
|
|
|
NM_001395413.1(POR):c.624C>T (p.Asp208=)
|
|
|
NM_001395413.1(POR):c.632+11A>G
|
|
|
NM_001395413.1(POR):c.632+14C>A
|
|
|
NM_001395413.1(POR):c.632+15T>C
|
rs2116595459
|
|
NM_001395413.1(POR):c.632+18C>T
|
|
|
NM_001395413.1(POR):c.632+7G>A
|
|
|
NM_001395413.1(POR):c.633-12T>C
|
|
|
NM_001395413.1(POR):c.633-14T>G
|
|
|
NM_001395413.1(POR):c.633-16C>G
|
|
|
NM_001395413.1(POR):c.633-20C>A
|
|
|
NM_001395413.1(POR):c.633-20C>G
|
rs368640263
|
|
NM_001395413.1(POR):c.633-20C>T
|
|
|
NM_001395413.1(POR):c.633-7G>C
|
|
|
NM_001395413.1(POR):c.651C>T (p.Ile217=)
|
|
|
NM_001395413.1(POR):c.658C>A (p.Arg220=)
|
|
|
NM_001395413.1(POR):c.681G>T (p.Val227=)
|
|
|
NM_001395413.1(POR):c.711C>G (p.Gly237=)
|
|
|
NM_001395413.1(POR):c.722+10T>C
|
|
|
NM_001395413.1(POR):c.722+14C>T
|
|
|
NM_001395413.1(POR):c.722+15G>A
|
|
|
NM_001395413.1(POR):c.722+15G>T
|
|
|
NM_001395413.1(POR):c.722+17A>G
|
|
|
NM_001395413.1(POR):c.722+18G>A
|
|
|
NM_001395413.1(POR):c.722+8A>C
|
|
|
NM_001395413.1(POR):c.723-11C>G
|
|
|
NM_001395413.1(POR):c.723-11C>T
|
|
|
NM_001395413.1(POR):c.723-15dup
|
|
|
NM_001395413.1(POR):c.723-16G>C
|
|
|
NM_001395413.1(POR):c.723-7T>G
|
|
|
NM_001395413.1(POR):c.723-9C>T
|
|
|
NM_001395413.1(POR):c.738G>A (p.Glu246=)
|
|
|
NM_001395413.1(POR):c.753C>G (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.753C>T (p.Thr251=)
|
|
|
NM_001395413.1(POR):c.765G>A (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.765G>C (p.Ala255=)
|
|
|
NM_001395413.1(POR):c.768C>T (p.Ala256=)
|
|
|
NM_001395413.1(POR):c.771G>A (p.Lys257=)
|
|
|
NM_001395413.1(POR):c.774G>T (p.Val258=)
|
|
|
NM_001395413.1(POR):c.793C>A (p.Arg265=)
|
|
|
NM_001395413.1(POR):c.798G>T (p.Leu266=)
|
|
|
NM_001395413.1(POR):c.804C>T (p.Ser268=)
|
rs201598971
|
|
NM_001395413.1(POR):c.807C>T (p.Tyr269=)
|
|
|
NM_001395413.1(POR):c.810G>A (p.Glu270=)
|
|
|
NM_001395413.1(POR):c.813C>T (p.Asn271=)
|
|
|
NM_001395413.1(POR):c.821+10G>C
|
|
|
NM_001395413.1(POR):c.821+13del
|
|
|
NM_001395413.1(POR):c.821+16G>A
|
|
|
NM_001395413.1(POR):c.821+17T>C
|
|
|
NM_001395413.1(POR):c.821+18G>T
|
|
|
NM_001395413.1(POR):c.821+20C>T
|
|
|
NM_001395413.1(POR):c.821+9A>G
|
|
|
NM_001395413.1(POR):c.821+9_821+24del
|
|
|
NM_001395413.1(POR):c.822-11T>C
|
|
|
NM_001395413.1(POR):c.822-11_822-9del
|
rs782696938
|
|
NM_001395413.1(POR):c.822-4C>G
|
|
|
NM_001395413.1(POR):c.822-5C>T
|
|
|
NM_001395413.1(POR):c.834C>T (p.Ala278=)
|
|
|
NM_001395413.1(POR):c.837G>A (p.Lys279=)
|
|
|
NM_001395413.1(POR):c.843G>A (p.Pro281=)
|
|
|
NM_001395413.1(POR):c.855A>G (p.Ala285=)
|
|
|
NM_001395413.1(POR):c.858C>A (p.Val286=)
|
|
|
NM_001395413.1(POR):c.874C>T (p.Leu292=)
|
|
|
NM_001395413.1(POR):c.87T>C (p.Ile29=)
|
|
|
NM_001395413.1(POR):c.913T>C (p.Leu305=)
|
|
|
NM_001395413.1(POR):c.924G>A (p.Ser308=)
|
|
|
NM_001395413.1(POR):c.924G>C (p.Ser308=)
|
rs782746771
|
|
NM_001395413.1(POR):c.930C>T (p.Ser310=)
|
|
|
NM_001395413.1(POR):c.936C>T (p.Ile312=)
|
|
|
NM_001395413.1(POR):c.938+13A>G
|
|
|
NM_001395413.1(POR):c.938+16G>A
|
|
|
NM_001395413.1(POR):c.938+18C>T
|
|
|
NM_001395413.1(POR):c.938+22_938+24dup
|
|
|
NM_001395413.1(POR):c.938+23_938+24del
|
|
|
NM_001395413.1(POR):c.938+7G>A
|
|
|
NM_001395413.1(POR):c.939-20A>G
|
|
|
NM_001395413.1(POR):c.939-21_939-17del
|
|
|
NM_001395413.1(POR):c.939-6C>A
|
|
|
NM_001395413.1(POR):c.939-6C>T
|
|
|
NM_001395413.1(POR):c.957C>T (p.His319=)
|
|
|
NM_001395413.1(POR):c.96G>A (p.Ser32=)
|
|
|
NM_001395413.1(POR):c.984T>C (p.Ser328=)
|
|
|
NM_001395413.1(POR):c.993C>G (p.Val331=)
|
|
|
NM_004366.6(CLCN2):c.1856-11G>C
|
rs200595019
|
|
NM_004366.6(CLCN2):c.2415+4_2415+5dup
|
rs146494980
|
|
NM_013335.4(GMPPA):c.1089C>T (p.Asn363=)
|
|
|
NM_013335.4(GMPPA):c.1173C>T (p.Val391=)
|
|
|
NM_013335.4(GMPPA):c.117C>T (p.His39=)
|
|
|
NM_013335.4(GMPPA):c.1185C>T (p.Ala395=)
|
|
|
NM_013335.4(GMPPA):c.243-17C>T
|
|
|
NM_013335.4(GMPPA):c.41-16C>T
|
|
|
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
|
rs36029384
|
|
NM_013335.4(GMPPA):c.486C>T (p.His162=)
|
rs36029384
|
|
NM_013335.4(GMPPA):c.490-16C>A
|
rs995824237
|
|
NM_013335.4(GMPPA):c.490-18A>G
|
|
|
NM_013335.4(GMPPA):c.490-6C>T
|
|
|
NM_013335.4(GMPPA):c.561T>C (p.Ser187=)
|
|
|
NM_013335.4(GMPPA):c.621-9C>T
|
|
|
NM_013335.4(GMPPA):c.630A>T (p.Ser210=)
|
|
|
NM_013335.4(GMPPA):c.66T>C (p.Phe22=)
|
rs1575219520
|
|
NM_013335.4(GMPPA):c.756-18C>A
|
rs1694544584
|
|
NM_015665.6(AAAS):c.-70T>C
|
rs186975061
|
|
NM_021098.3(CACNA1H):c.1008C>G (p.Ala336=)
|
rs1183381904
|
|
NM_021098.3(CACNA1H):c.1012A>G (p.Ile338Val)
|
rs759899460
|
|
NM_021098.3(CACNA1H):c.1038G>T (p.Val346=)
|
|
|
NM_021098.3(CACNA1H):c.1084G>A (p.Asp362Asn)
|
rs1567508639
|
|
NM_021098.3(CACNA1H):c.1095C>T (p.Gly365=)
|
rs1269503775
|
|
NM_021098.3(CACNA1H):c.1119+7G>A
|
rs772848426
|
|
NM_021098.3(CACNA1H):c.111A>G (p.Gly37=)
|
|
|
NM_021098.3(CACNA1H):c.1120-10G>A
|
|
|
NM_021098.3(CACNA1H):c.1120-11T>C
|
|
|
NM_021098.3(CACNA1H):c.1120-5C>G
|
rs188397970
|
|
NM_021098.3(CACNA1H):c.1120-5C>T
|
rs188397970
|
|
NM_021098.3(CACNA1H):c.1120-9C>T
|
rs978309224
|
|
NM_021098.3(CACNA1H):c.1149C>T (p.Ile383=)
|
|
|
NM_021098.3(CACNA1H):c.1161C>T (p.Val387=)
|
rs973334540
|
|
NM_021098.3(CACNA1H):c.1170C>T (p.Ala390=)
|
|
|
NM_021098.3(CACNA1H):c.1191C>A (p.Ile397=)
|
|
|
NM_021098.3(CACNA1H):c.1191C>T (p.Ile397=)
|
rs765469156
|
|
NM_021098.3(CACNA1H):c.1201C>T (p.Leu401=)
|
|
|
NM_021098.3(CACNA1H):c.1203G>C (p.Leu401=)
|
rs1157849968
|
|
NM_021098.3(CACNA1H):c.1206C>T (p.Leu402=)
|
rs764371721
|
|
NM_021098.3(CACNA1H):c.1212+11G>A
|
|
|
NM_021098.3(CACNA1H):c.1213-10C>G
|
rs373660548
|
|
NM_021098.3(CACNA1H):c.1213-10C>T
|
|
|
NM_021098.3(CACNA1H):c.1213-13G>C
|
rs747424487
|
|
NM_021098.3(CACNA1H):c.1213-19C>G
|
|
|
NM_021098.3(CACNA1H):c.1213-4A>G
|
|
|
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=)
|
rs58198225
|
|
NM_021098.3(CACNA1H):c.1260G>T (p.Thr420=)
|
|
|
NM_021098.3(CACNA1H):c.126G>C (p.Arg42=)
|
rs2151603792
|
|
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
|
rs988908130
|
|
NM_021098.3(CACNA1H):c.129G>C (p.Gly43=)
|
|
|
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
|
|
|
NM_021098.3(CACNA1H):c.1314A>G (p.Ala438=)
|
|
|
NM_021098.3(CACNA1H):c.1318C>T (p.His440Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1330G>A (p.Asp444Asn)
|
|
|
NM_021098.3(CACNA1H):c.1338G>A (p.Thr446=)
|
|
|
NM_021098.3(CACNA1H):c.1338G>C (p.Thr446=)
|
|
|
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp)
|
|
|
NM_021098.3(CACNA1H):c.1344C>G (p.Ala448=)
|
|
|
NM_021098.3(CACNA1H):c.1350C>T (p.Phe450=)
|
|
|
NM_021098.3(CACNA1H):c.135G>A (p.Glu45=)
|
|
|
NM_021098.3(CACNA1H):c.1360G>C (p.Gly454Arg)
|
|
|
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
|
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.1426T>C (p.Leu476=)
|
|
|
NM_021098.3(CACNA1H):c.1438G>A (p.Ala480Thr)
|
|
|
NM_021098.3(CACNA1H):c.1464G>A (p.Lys488=)
|
rs1967974749
|
|
NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu)
|
|
|
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp)
|
|
|
NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=)
|
|
|
NM_021098.3(CACNA1H):c.1506C>T (p.His502=)
|
rs2141257419
|
|
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.1527G>A (p.Arg509=)
|
|
|
NM_021098.3(CACNA1H):c.153C>T (p.Ser51=)
|
rs1179273024
|
|
NM_021098.3(CACNA1H):c.1554C>G (p.Val518=)
|
rs763092079
|
|
NM_021098.3(CACNA1H):c.1560C>T (p.His520=)
|
|
|
NM_021098.3(CACNA1H):c.15A>C (p.Ala5=)
|
rs1419005675
|
|
NM_021098.3(CACNA1H):c.1614G>A (p.Arg538=)
|
rs1383742728
|
|
NM_021098.3(CACNA1H):c.1617C>A (p.Pro539=)
|
rs914641626
|
|
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=)
|
rs755913742
|
|
NM_021098.3(CACNA1H):c.1662C>T (p.Gly554=)
|
|
|
NM_021098.3(CACNA1H):c.1664C>A (p.Ala555Glu)
|
rs9924241
|
|
NM_021098.3(CACNA1H):c.1665G>T (p.Ala555=)
|
rs753841406
|
|
NM_021098.3(CACNA1H):c.1677A>G (p.Pro559=)
|
rs2141259471
|
|
NM_021098.3(CACNA1H):c.168C>T (p.Ala56=)
|
rs1961912470
|
|
NM_021098.3(CACNA1H):c.1695A>G (p.Gly565=)
|
rs1272259379
|
|
NM_021098.3(CACNA1H):c.1696C>T (p.Pro566Ser)
|
rs891039616
|
|
NM_021098.3(CACNA1H):c.1701C>G (p.Pro567=)
|
rs763608019
|
|
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=)
|
rs763608019
|
|
NM_021098.3(CACNA1H):c.1734C>T (p.Ala578=)
|
|
|
NM_021098.3(CACNA1H):c.1737C>G (p.Asp579Glu)
|
|
|
NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr)
|
|
|
NM_021098.3(CACNA1H):c.1767C>T (p.Ala589=)
|
|
|
NM_021098.3(CACNA1H):c.1797T>C (p.Ala599=)
|
rs2141261175
|
|
NM_021098.3(CACNA1H):c.1845G>A (p.Thr615=)
|
rs776887979
|
|
NM_021098.3(CACNA1H):c.1854C>G (p.Pro618=)
|
|
|
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=)
|
|
|
NM_021098.3(CACNA1H):c.1890C>A (p.Pro630=)
|
rs755382298
|
|
NM_021098.3(CACNA1H):c.1902G>A (p.Gly634=)
|
|
|
NM_021098.3(CACNA1H):c.1950C>T (p.Ser650=)
|
|
|
NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=)
|
|
|
NM_021098.3(CACNA1H):c.1968C>G (p.Pro656=)
|
rs1163122575
|
|
NM_021098.3(CACNA1H):c.2002+11_2002+14dup
|
rs1489074089
|
|
NM_021098.3(CACNA1H):c.2002+12G>T
|
rs1968075185
|
|
NM_021098.3(CACNA1H):c.2002+15C>T
|
rs1043005077
|
|
NM_021098.3(CACNA1H):c.2002+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2003-10T>C
|
rs2141277371
|
|
NM_021098.3(CACNA1H):c.2003-12C>T
|
rs1301686568
|
|
NM_021098.3(CACNA1H):c.2003-16G>A
|
|
|
NM_021098.3(CACNA1H):c.2028G>T (p.Leu676=)
|
|
|
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=)
|
rs2141277940
|
|
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=)
|
rs554718345
|
|
NM_021098.3(CACNA1H):c.2064C>T (p.Pro688=)
|
rs766428359
|
|
NM_021098.3(CACNA1H):c.2070G>A (p.Ala690=)
|
|
|
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val)
|
|
|
NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=)
|
|
|
NM_021098.3(CACNA1H):c.210C>G (p.Val70=)
|
rs2151604551
|
|
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2133G>A (p.Glu711=)
|
rs560783884
|
|
NM_021098.3(CACNA1H):c.2148C>A (p.Gly716=)
|
rs1275938567
|
|
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2161G>C (p.Asp721His)
|
|
|
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu)
|
rs1346520324
|
|
NM_021098.3(CACNA1H):c.2193G>A (p.Thr731=)
|
rs374261511
|
|
NM_021098.3(CACNA1H):c.21C>A (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.21C>G (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys)
|
|
|
NM_021098.3(CACNA1H):c.2332C>T (p.Leu778Phe)
|
|
|
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)
|
rs200687647
|
|
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile)
|
rs200687647
|
|
NM_021098.3(CACNA1H):c.2379G>A (p.Lys793=)
|
rs755411250
|
|
NM_021098.3(CACNA1H):c.2388C>T (p.Ser796=)
|
|
|
NM_021098.3(CACNA1H):c.2397C>T (p.Ile799=)
|
|
|
NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)
|
|
|
NM_021098.3(CACNA1H):c.2421G>C (p.Thr807=)
|
rs761461229
|
|
NM_021098.3(CACNA1H):c.243C>T (p.Phe81=)
|
|
|
NM_021098.3(CACNA1H):c.2448G>A (p.Glu816=)
|
|
|
NM_021098.3(CACNA1H):c.2451+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2451+18del
|
|
|
NM_021098.3(CACNA1H):c.2451+7G>T
|
rs1202347048
|
|
NM_021098.3(CACNA1H):c.2452-16C>T
|
|
|
NM_021098.3(CACNA1H):c.2452-17C>A
|
rs993654582
|
|
NM_021098.3(CACNA1H):c.2452-20G>C
|
|
|
NM_021098.3(CACNA1H):c.2452-6C>G
|
rs766620515
|
|
NM_021098.3(CACNA1H):c.2452-8G>C
|
|
|
NM_021098.3(CACNA1H):c.2454C>G (p.Pro818=)
|
rs545917540
|
|
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=)
|
rs545917540
|
|
NM_021098.3(CACNA1H):c.2466T>G (p.Thr822=)
|
|
|
NM_021098.3(CACNA1H):c.246C>T (p.Cys82=)
|
rs1596271172
|
|
NM_021098.3(CACNA1H):c.2472T>C (p.Ala824=)
|
rs2141288261
|
|
NM_021098.3(CACNA1H):c.2481C>A (p.Ile827=)
|
|
|
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=)
|
rs368916421
|
|
NM_021098.3(CACNA1H):c.249C>G (p.Leu83=)
|
|
|
NM_021098.3(CACNA1H):c.2532G>A (p.Leu844=)
|
|
|
NM_021098.3(CACNA1H):c.2538C>A (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=)
|
rs1242284062
|
|
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=)
|
rs377029056
|
|
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys)
|
rs747426357
|
|
NM_021098.3(CACNA1H):c.2603+11A>T
|
|
|
NM_021098.3(CACNA1H):c.2603+13C>A
|
|
|
NM_021098.3(CACNA1H):c.2603+13C>T
|
rs201131841
|
|
NM_021098.3(CACNA1H):c.2603+14C>G
|
|
|
NM_021098.3(CACNA1H):c.2603+14del
|
|
|
NM_021098.3(CACNA1H):c.2603+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+19C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+8C>G
|
rs761715073
|
|
NM_021098.3(CACNA1H):c.2603+8C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+9C>T
|
|
|
NM_021098.3(CACNA1H):c.2604-10C>T
|
|
|
NM_021098.3(CACNA1H):c.2604-13C>G
|
rs961885924
|
|
NM_021098.3(CACNA1H):c.2604-4G>T
|
|
|
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=)
|
rs562148225
|
|
NM_021098.3(CACNA1H):c.2607C>T (p.Val869=)
|
rs2141296467
|
|
NM_021098.3(CACNA1H):c.2628G>A (p.Ala876=)
|
|
|
NM_021098.3(CACNA1H):c.2649G>A (p.Leu883=)
|
rs2141296783
|
|
NM_021098.3(CACNA1H):c.2662C>T (p.Leu888=)
|
|
|
NM_021098.3(CACNA1H):c.2676G>A (p.Leu892=)
|
rs567419788
|
|
NM_021098.3(CACNA1H):c.270C>T (p.Arg90=)
|
rs577235589
|
|
NM_021098.3(CACNA1H):c.2733C>T (p.Thr911=)
|
|
|
NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=)
|
|
|
NM_021098.3(CACNA1H):c.2760G>A (p.Thr920=)
|
rs776215729
|
|
NM_021098.3(CACNA1H):c.2760G>T (p.Thr920=)
|
rs776215729
|
|
NM_021098.3(CACNA1H):c.2766C>T (p.Leu922=)
|
rs558892363
|
|
NM_021098.3(CACNA1H):c.2781C>T (p.Phe927=)
|
|
|
NM_021098.3(CACNA1H):c.2789+11C>T
|
|
|
NM_021098.3(CACNA1H):c.2789+14C>T
|
rs58507166
|
|
NM_021098.3(CACNA1H):c.2790-18C>T
|
|
|
NM_021098.3(CACNA1H):c.285G>C (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2862G>A (p.Arg954=)
|
|
|
NM_021098.3(CACNA1H):c.2877C>A (p.Ser959=)
|
|
|
NM_021098.3(CACNA1H):c.2907+19G>A
|
|
|
NM_021098.3(CACNA1H):c.2908-10_2908-4dup
|
|
|
NM_021098.3(CACNA1H):c.2908-15C>T
|
|
|
NM_021098.3(CACNA1H):c.2908-18C>T
|
rs751036019
|
|
NM_021098.3(CACNA1H):c.2937C>A (p.Val979=)
|
rs770074317
|
|
NM_021098.3(CACNA1H):c.2937C>T (p.Val979=)
|
|
|
NM_021098.3(CACNA1H):c.2946C>T (p.Asn982=)
|
rs368824465
|
|
NM_021098.3(CACNA1H):c.2955C>T (p.Ala985=)
|
rs997608038
|
|
NM_021098.3(CACNA1H):c.2958C>G (p.Ser986=)
|
|
|
NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=)
|
|
|
NM_021098.3(CACNA1H):c.297C>T (p.Asn99=)
|
|
|
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=)
|
rs371675943
|
|
NM_021098.3(CACNA1H):c.299+10C>T
|
|
|
NM_021098.3(CACNA1H):c.299+14_299+15inv
|
|
|
NM_021098.3(CACNA1H):c.299+15C>G
|
rs553478910
|
|
NM_021098.3(CACNA1H):c.299+15C>T
|
rs553478910
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[2]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[4]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[5]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+17G>A
|
|
|
NM_021098.3(CACNA1H):c.299+18C>A
|
|
|
NM_021098.3(CACNA1H):c.299+20_299+40del
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+27_299+40del
|
|
|
NM_021098.3(CACNA1H):c.2994C>A (p.Leu998=)
|
|
|
NM_021098.3(CACNA1H):c.300-10G>A
|
|
|
NM_021098.3(CACNA1H):c.300-12C>T
|
|
|
NM_021098.3(CACNA1H):c.300-18C>T
|
|
|
NM_021098.3(CACNA1H):c.300-20T>C
|
|
|
NM_021098.3(CACNA1H):c.300-5G>A
|
rs748626072
|
|
NM_021098.3(CACNA1H):c.300-5G>C
|
rs748626072
|
|
NM_021098.3(CACNA1H):c.300-8G>T
|
rs3751662
|
|
NM_021098.3(CACNA1H):c.3018C>T (p.Leu1006=)
|
|
|
NM_021098.3(CACNA1H):c.3028C>T (p.Leu1010=)
|
rs2141308915
|
|
NM_021098.3(CACNA1H):c.3039C>T (p.Ile1013=)
|
rs1055891812
|
|
NM_021098.3(CACNA1H):c.3063+11A>G
|
|
|
NM_021098.3(CACNA1H):c.3063+17_3063+18del
|
rs1221923818
|
|
NM_021098.3(CACNA1H):c.3063+9G>A
|
rs1596443356
|
|
NM_021098.3(CACNA1H):c.3063+9_3063+21del
|
|
|
NM_021098.3(CACNA1H):c.3063+9del
|
rs757759305
|
|
NM_021098.3(CACNA1H):c.3064-18G>A
|
|
|
NM_021098.3(CACNA1H):c.3072C>T (p.Ala1024=)
|
|
|
NM_021098.3(CACNA1H):c.3081C>G (p.Ser1027=)
|
|
|
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=)
|
rs369351441
|
|
NM_021098.3(CACNA1H):c.3084C>T (p.Asp1028=)
|
|
|
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)
|
rs548097951
|
|
NM_021098.3(CACNA1H):c.3096C>T (p.Asp1032=)
|
|
|
NM_021098.3(CACNA1H):c.3105G>A (p.Ser1035=)
|
|
|
NM_021098.3(CACNA1H):c.3135C>T (p.Leu1045=)
|
|
|
NM_021098.3(CACNA1H):c.3154+10G>T
|
|
|
NM_021098.3(CACNA1H):c.3154+12C>T
|
rs779364761
|
|
NM_021098.3(CACNA1H):c.3154+14G>C
|
rs1448162924
|
|
NM_021098.3(CACNA1H):c.3154+15T>C
|
|
|
NM_021098.3(CACNA1H):c.3155-14C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-17C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-6C>T
|
rs1172532833
|
|
NM_021098.3(CACNA1H):c.3155-7C>G
|
rs376008324
|
|
NM_021098.3(CACNA1H):c.3168T>C (p.Cys1056=)
|
rs1555514839
|
|
NM_021098.3(CACNA1H):c.3177C>G (p.Ala1059=)
|
|
|
NM_021098.3(CACNA1H):c.3186C>T (p.Pro1062=)
|
rs1465734432
|
|
NM_021098.3(CACNA1H):c.3196C>T (p.Leu1066=)
|
rs2141316274
|
|
NM_021098.3(CACNA1H):c.3198G>A (p.Leu1066=)
|
|
|
NM_021098.3(CACNA1H):c.320T>C (p.Met107Thr)
|
|
|
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu)
|
rs772211003
|
|
NM_021098.3(CACNA1H):c.3249G>A (p.Thr1083=)
|
|
|
NM_021098.3(CACNA1H):c.3261C>T (p.Thr1087=)
|
rs57606792
|
|
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=)
|
rs201113434
|
|
NM_021098.3(CACNA1H):c.327A>C (p.Val109=)
|
rs775473074
|
|
NM_021098.3(CACNA1H):c.3294C>G (p.Pro1098=)
|
rs1039197409
|
|
NM_021098.3(CACNA1H):c.3297C>T (p.Ser1099=)
|
rs900247817
|
|
NM_021098.3(CACNA1H):c.3312G>A (p.Arg1104=)
|
rs1596446430
|
|
NM_021098.3(CACNA1H):c.332T>C (p.Met111Thr)
|
|
|
NM_021098.3(CACNA1H):c.3333G>A (p.Gly1111=)
|
|
|
NM_021098.3(CACNA1H):c.3363+12C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+15C>T
|
|
|
NM_021098.3(CACNA1H):c.3369C>T (p.Ser1123=)
|
|
|
NM_021098.3(CACNA1H):c.3372C>T (p.Leu1124=)
|
|
|
NM_021098.3(CACNA1H):c.3384C>T (p.Pro1128=)
|
|
|
NM_021098.3(CACNA1H):c.3393C>T (p.Pro1131=)
|
|
|
NM_021098.3(CACNA1H):c.3424C>T (p.Arg1142Cys)
|
|
|
NM_021098.3(CACNA1H):c.3426C>T (p.Arg1142=)
|
|
|
NM_021098.3(CACNA1H):c.3429C>T (p.Ser1143=)
|
|
|
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met)
|
rs375342465
|
|
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_021098.3(CACNA1H):c.3468C>A (p.Arg1156=)
|
|
|
NM_021098.3(CACNA1H):c.3477G>A (p.Gln1159=)
|
|
|
NM_021098.3(CACNA1H):c.3483G>A (p.Gly1161=)
|
|
|
NM_021098.3(CACNA1H):c.3525C>A (p.Thr1175=)
|
|
|
NM_021098.3(CACNA1H):c.3528C>T (p.Asp1176=)
|
|
|
NM_021098.3(CACNA1H):c.3529G>A (p.Asp1177Asn)
|
|
|
NM_021098.3(CACNA1H):c.3558C>A (p.Pro1186=)
|
|
|
NM_021098.3(CACNA1H):c.3558C>G (p.Pro1186=)
|
|
|
NM_021098.3(CACNA1H):c.3558C>T (p.Pro1186=)
|
rs748985468
|
|
NM_021098.3(CACNA1H):c.3579G>T (p.Leu1193=)
|
rs1169808873
|
|
NM_021098.3(CACNA1H):c.3588C>T (p.Ala1196=)
|
|
|
NM_021098.3(CACNA1H):c.3595C>T (p.Leu1199=)
|
rs1273089808
|
|
NM_021098.3(CACNA1H):c.3600C>T (p.Asp1200=)
|
rs1555515663
|
|
NM_021098.3(CACNA1H):c.3613C>A (p.Arg1205=)
|
rs779622633
|
|
NM_021098.3(CACNA1H):c.3615G>A (p.Arg1205=)
|
|
|
NM_021098.3(CACNA1H):c.3618G>T (p.Pro1206=)
|
rs771412437
|
|
NM_021098.3(CACNA1H):c.3651C>A (p.Arg1217=)
|
|
|
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg)
|
rs746322724
|
|
NM_021098.3(CACNA1H):c.3670C>T (p.Leu1224=)
|
rs1011421153
|
|
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=)
|
rs1555515806
|
|
NM_021098.3(CACNA1H):c.3720C>G (p.Ala1240=)
|
rs764674205
|
|
NM_021098.3(CACNA1H):c.3733G>A (p.Asp1245Asn)
|
|
|
NM_021098.3(CACNA1H):c.3744+15C>T
|
|
|
NM_021098.3(CACNA1H):c.3744+18G>A
|
|
|
NM_021098.3(CACNA1H):c.3744+20C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-12C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-14G>A
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-15C>T
|
|
|
NM_021098.3(CACNA1H):c.3747C>T (p.Ser1249=)
|
rs773881668
|
|
NM_021098.3(CACNA1H):c.3753C>T (p.Cys1251=)
|
rs1222478322
|
|
NM_021098.3(CACNA1H):c.375C>T (p.Asp125=)
|
rs768580487
|
|
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=)
|
rs750607074
|
|
NM_021098.3(CACNA1H):c.3825C>T (p.Tyr1275=)
|
|
|
NM_021098.3(CACNA1H):c.3845+14G>T
|
|
|
NM_021098.3(CACNA1H):c.3845+17A>G
|
|
|
NM_021098.3(CACNA1H):c.3845+8G>C
|
rs200291203
|
|
NM_021098.3(CACNA1H):c.3846-11C>T
|
rs201806428
|
|
NM_021098.3(CACNA1H):c.3846-12_3846-7del
|
rs1969286619
|
|
NM_021098.3(CACNA1H):c.3846-18C>A
|
|
|
NM_021098.3(CACNA1H):c.3846-19CCCGCC[3]
|
rs1969286619
|
|
NM_021098.3(CACNA1H):c.3846-28_3846-7del
|
rs2141337640
|
|
NM_021098.3(CACNA1H):c.3849C>T (p.Phe1283=)
|
|
|
NM_021098.3(CACNA1H):c.3867G>C (p.Lys1289Asn)
|
rs375135684
|
|
NM_021098.3(CACNA1H):c.3877C>G (p.His1293Asp)
|
|
|
NM_021098.3(CACNA1H):c.3900C>T (p.Val1300=)
|
rs747491713
|
|
NM_021098.3(CACNA1H):c.3903C>G (p.Leu1301=)
|
|
|
NM_021098.3(CACNA1H):c.3906C>G (p.Val1302=)
|
rs775711531
|
|
NM_021098.3(CACNA1H):c.3906C>T (p.Val1302=)
|
rs775711531
|
|
NM_021098.3(CACNA1H):c.390C>A (p.Ser130=)
|
rs59794024
|
|
NM_021098.3(CACNA1H):c.390C>G (p.Ser130=)
|
rs59794024
|
|
NM_021098.3(CACNA1H):c.3921C>T (p.Asn1307=)
|
rs377019810
|
|
NM_021098.3(CACNA1H):c.3930C>T (p.Thr1310=)
|
|
|
NM_021098.3(CACNA1H):c.3937C>T (p.Leu1313=)
|
rs757747784
|
|
NM_021098.3(CACNA1H):c.3969+16C>G
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.3969+16C>T
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.396C>T (p.Arg132=)
|
rs1320328822
|
|
NM_021098.3(CACNA1H):c.3970-15G>A
|
|
|
NM_021098.3(CACNA1H):c.3970-16C>T
|
|
|
NM_021098.3(CACNA1H):c.3970-4G>C
|
|
|
NM_021098.3(CACNA1H):c.3978C>T (p.Val1326=)
|
rs1212594226
|
|
NM_021098.3(CACNA1H):c.3990C>T (p.Val1330=)
|
|
|
NM_021098.3(CACNA1H):c.3993C>T (p.Ser1331=)
|
|
|
NM_021098.3(CACNA1H):c.4035G>A (p.Val1345=)
|
rs747258959
|
|
NM_021098.3(CACNA1H):c.4038+13C>T
|
|
|
NM_021098.3(CACNA1H):c.4038+14dup
|
rs775720802
|
|
NM_021098.3(CACNA1H):c.4038+15G>A
|
|
|
NM_021098.3(CACNA1H):c.4038+17G>T
|
rs578041058
|
|
NM_021098.3(CACNA1H):c.4038+8G>T
|
rs555282047
|
|
NM_021098.3(CACNA1H):c.4039-11G>T
|
rs369310607
|
|
NM_021098.3(CACNA1H):c.4039-15A>G
|
|
|
NM_021098.3(CACNA1H):c.4039-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4039-19_4039-18del
|
|
|
NM_021098.3(CACNA1H):c.4039-20G>T
|
|
|
NM_021098.3(CACNA1H):c.403A>G (p.Ile135Val)
|
|
|
NM_021098.3(CACNA1H):c.4050G>A (p.Leu1350=)
|
|
|
NM_021098.3(CACNA1H):c.4096C>T (p.Leu1366=)
|
|
|
NM_021098.3(CACNA1H):c.4099C>T (p.Leu1367=)
|
|
|
NM_021098.3(CACNA1H):c.411+18_411+40del
|
|
|
NM_021098.3(CACNA1H):c.411+20G>C
|
|
|
NM_021098.3(CACNA1H):c.411+20G>T
|
|
|
NM_021098.3(CACNA1H):c.4116G>A (p.Val1372=)
|
rs2141343082
|
|
NM_021098.3(CACNA1H):c.412-19C>T
|
|
|
NM_021098.3(CACNA1H):c.412-4G>C
|
rs747026006
|
|
NM_021098.3(CACNA1H):c.412-7C>T
|
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
NM_021098.3(CACNA1H):c.4170G>A (p.Lys1390=)
|
rs2141343609
|
|
NM_021098.3(CACNA1H):c.4173C>T (p.Ile1391=)
|
|
|
NM_021098.3(CACNA1H):c.4174C>T (p.Leu1392=)
|
rs1012227993
|
|
NM_021098.3(CACNA1H):c.417T>C (p.Phe139=)
|
rs2141197568
|
|
NM_021098.3(CACNA1H):c.4188C>T (p.Arg1396=)
|
|
|
NM_021098.3(CACNA1H):c.4197T>G (p.Arg1399=)
|
|
|
NM_021098.3(CACNA1H):c.4198C>T (p.Leu1400=)
|
rs1175082193
|
|
NM_021098.3(CACNA1H):c.4219C>T (p.Leu1407=)
|
rs1041269521
|
|
NM_021098.3(CACNA1H):c.4223+14_4223+24del
|
|
|
NM_021098.3(CACNA1H):c.4223+15G>C
|
|
|
NM_021098.3(CACNA1H):c.4223+9C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-17C>A
|
|
|
NM_021098.3(CACNA1H):c.4224-17C>G
|
rs565477632
|
|
NM_021098.3(CACNA1H):c.4224-19A>G
|
|
|
NM_021098.3(CACNA1H):c.4224-6C>G
|
rs72552039
|
|
NM_021098.3(CACNA1H):c.4224-8C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-9C>G
|
rs1287379368
|
|
NM_021098.3(CACNA1H):c.4224-9C>T
|
rs1287379368
|
|
NM_021098.3(CACNA1H):c.4242G>A (p.Pro1414=)
|
|
|
NM_021098.3(CACNA1H):c.4245C>A (p.Gly1415=)
|
rs369232507
|
|
NM_021098.3(CACNA1H):c.4245C>T (p.Gly1415=)
|
|
|
NM_021098.3(CACNA1H):c.4263G>A (p.Glu1421=)
|
|
|
NM_021098.3(CACNA1H):c.4269G>C (p.Leu1423=)
|
rs554182970
|
|
NM_021098.3(CACNA1H):c.4299C>T (p.Ile1433=)
|
|
|
NM_021098.3(CACNA1H):c.4305C>T (p.Leu1435=)
|
|
|
NM_021098.3(CACNA1H):c.4317C>T (p.Ala1439=)
|
|
|
NM_021098.3(CACNA1H):c.4344T>C (p.Gly1448=)
|
|
|
NM_021098.3(CACNA1H):c.4350+13del
|
rs2141346672
|
|
NM_021098.3(CACNA1H):c.4350+19C>T
|
|
|
NM_021098.3(CACNA1H):c.4351-16C>A
|
|
|
NM_021098.3(CACNA1H):c.4351-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4351-5G>A
|
|
|
NM_021098.3(CACNA1H):c.4353C>T (p.Leu1451=)
|
|
|
NM_021098.3(CACNA1H):c.4370A>T (p.Tyr1457Phe)
|
rs747837740
|
|
NM_021098.3(CACNA1H):c.4425C>A (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His)
|
|
|
NM_021098.3(CACNA1H):c.444G>T (p.Ala148=)
|
rs560099947
|
|
NM_021098.3(CACNA1H):c.4476+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4477-10T>C
|
|
|
NM_021098.3(CACNA1H):c.4482G>A (p.Leu1494=)
|
rs767021614
|
|
NM_021098.3(CACNA1H):c.4560C>T (p.Asp1520=)
|
|
|
NM_021098.3(CACNA1H):c.4566+12C>G
|
|
|
NM_021098.3(CACNA1H):c.4566+14G>C
|
|
|
NM_021098.3(CACNA1H):c.4566+17C>T
|
|
|
NM_021098.3(CACNA1H):c.4566+18G>T
|
|
|
NM_021098.3(CACNA1H):c.4566+8C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-11C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-14C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-6C>T
|
|
|
NM_021098.3(CACNA1H):c.4587C>G (p.Pro1529=)
|
rs1410934715
|
|
NM_021098.3(CACNA1H):c.4594C>T (p.Leu1532=)
|
|
|
NM_021098.3(CACNA1H):c.4614C>T (p.Phe1538=)
|
|
|
NM_021098.3(CACNA1H):c.4617G>A (p.Leu1539=)
|
|
|
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=)
|
rs752944065
|
|
NM_021098.3(CACNA1H):c.4709C>G (p.Ala1570Gly)
|
|
|
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=)
|
rs777692032
|
|
NM_021098.3(CACNA1H):c.471C>T (p.Ala157=)
|
|
|
NM_021098.3(CACNA1H):c.4728G>A (p.Lys1576=)
|
rs755610106
|
|
NM_021098.3(CACNA1H):c.472T>C (p.Leu158=)
|
|
|
NM_021098.3(CACNA1H):c.4737G>T (p.Arg1579=)
|
rs201270662
|
|
NM_021098.3(CACNA1H):c.4743A>C (p.Leu1581=)
|
rs1201603119
|
|
NM_021098.3(CACNA1H):c.4743A>G (p.Leu1581=)
|
|
|
NM_021098.3(CACNA1H):c.4759+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4759+12_4759+23del
|
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[4]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4759+17G>A
|
rs1221457861
|
|
NM_021098.3(CACNA1H):c.4759+20G>A
|
|
|
NM_021098.3(CACNA1H):c.4759+22_4759+33del
|
|
|
NM_021098.3(CACNA1H):c.4760-10G>C
|
|
|
NM_021098.3(CACNA1H):c.4760-16C>T
|
rs762530169
|
|
NM_021098.3(CACNA1H):c.4760-17T>G
|
|
|
NM_021098.3(CACNA1H):c.4760-4C>G
|
rs377601289
|
|
NM_021098.3(CACNA1H):c.4777+10C>G
|
rs762322793
|
|
NM_021098.3(CACNA1H):c.4777+11T>A
|
rs763690761
|
|
NM_021098.3(CACNA1H):c.4777+18C>T
|
|
|
NM_021098.3(CACNA1H):c.4777+7G>A
|
rs1283957989
|
|
NM_021098.3(CACNA1H):c.4777+7G>C
|
|
|
NM_021098.3(CACNA1H):c.4778-12C>A
|
|
|
NM_021098.3(CACNA1H):c.4778-13G>C
|
rs757429018
|
|
NM_021098.3(CACNA1H):c.4778-16G>A
|
|
|
NM_021098.3(CACNA1H):c.4788C>T (p.Arg1596=)
|
|
|
NM_021098.3(CACNA1H):c.478C>G (p.Leu160Val)
|
|
|
NM_021098.3(CACNA1H):c.4797C>T (p.Tyr1599=)
|
rs1367437480
|
|
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4803C>T (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.480G>C (p.Leu160=)
|
rs757136301
|
|
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)
|
rs377532485
|
|
NM_021098.3(CACNA1H):c.4824C>G (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4824C>T (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4833C>T (p.His1611=)
|
|
|
NM_021098.3(CACNA1H):c.4836G>T (p.Ser1612=)
|
rs58033848
|
|
NM_021098.3(CACNA1H):c.483C>T (p.Phe161=)
|
|
|
NM_021098.3(CACNA1H):c.4842C>T (p.Cys1614=)
|
|
|
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=)
|
rs534178272
|
|
NM_021098.3(CACNA1H):c.4866C>T (p.Phe1622=)
|
|
|
NM_021098.3(CACNA1H):c.4875C>T (p.Phe1625=)
|
|
|
NM_021098.3(CACNA1H):c.4884T>C (p.Cys1628=)
|
|
|
NM_021098.3(CACNA1H):c.4890C>T (p.Asn1630=)
|
rs758400171
|
|
NM_021098.3(CACNA1H):c.4905C>T (p.Ser1635=)
|
|
|
NM_021098.3(CACNA1H):c.4911G>A (p.Glu1637=)
|
|
|
NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=)
|
|
|
NM_021098.3(CACNA1H):c.4929+13G>C
|
rs1567547445
|
|
NM_021098.3(CACNA1H):c.4929+14G>T
|
|
|
NM_021098.3(CACNA1H):c.4929+15_4929+25del
|
rs752221447
|
|
NM_021098.3(CACNA1H):c.4929+15_4929+25dup
|
|
|
NM_021098.3(CACNA1H):c.4929+17C>T
|
|
|
NM_021098.3(CACNA1H):c.4929+7G>A
|
|
|
NM_021098.3(CACNA1H):c.4929+7_4929+8delinsTG
|
rs2141367669
|
|
NM_021098.3(CACNA1H):c.4929+8C>A
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4930-5C>G
|
|
|
NM_021098.3(CACNA1H):c.4930-7C>A
|
rs1474037310
|
|
NM_021098.3(CACNA1H):c.4932_4933delinsAT (p.Ser1644_Leu1645=)
|
|
|
NM_021098.3(CACNA1H):c.4944C>A (p.Ala1648=)
|
rs1448726368
|
|
NM_021098.3(CACNA1H):c.4947C>G (p.Leu1649=)
|
|
|
NM_021098.3(CACNA1H):c.4950G>A (p.Lys1650=)
|
rs1969889318
|
|
NM_021098.3(CACNA1H):c.4962C>T (p.Tyr1654=)
|
|
|
NM_021098.3(CACNA1H):c.4965C>A (p.Val1655=)
|
|
|
NM_021098.3(CACNA1H):c.4983C>T (p.Val1661=)
|
|
|
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His)
|
rs369914175
|
|
NM_021098.3(CACNA1H):c.5025G>C (p.Arg1675=)
|
rs2141374709
|
|
NM_021098.3(CACNA1H):c.5034G>A (p.Lys1678=)
|
|
|
NM_021098.3(CACNA1H):c.5039+17C>T
|
rs201391366
|
|
NM_021098.3(CACNA1H):c.5039+7G>T
|
rs377110506
|
|
NM_021098.3(CACNA1H):c.5040-16G>T
|
rs930079342
|
|
NM_021098.3(CACNA1H):c.5040-19T>C
|
|
|
NM_021098.3(CACNA1H):c.5040-20C>T
|
|
|
NM_021098.3(CACNA1H):c.5068C>T (p.Leu1690=)
|
rs755567471
|
|
NM_021098.3(CACNA1H):c.5073G>A (p.Leu1691=)
|
rs371953309
|
|
NM_021098.3(CACNA1H):c.5085C>T (p.Gly1695=)
|
|
|
NM_021098.3(CACNA1H):c.5097G>A (p.Glu1699=)
|
|
|
NM_021098.3(CACNA1H):c.5106G>A (p.Glu1702=)
|
rs2141376316
|
|
NM_021098.3(CACNA1H):c.5124C>T (p.Pro1708=)
|
|
|
NM_021098.3(CACNA1H):c.5127C>T (p.Ile1709=)
|
rs1555519102
|
|
NM_021098.3(CACNA1H):c.5142C>T (p.Ile1714=)
|
|
|
NM_021098.3(CACNA1H):c.5154C>T (p.Arg1718=)
|
|
|
NM_021098.3(CACNA1H):c.5173+12C>T
|
|
|
NM_021098.3(CACNA1H):c.5173+13G>A
|
rs542071111
|
|
NM_021098.3(CACNA1H):c.5173+13G>C
|
rs542071111
|
|
NM_021098.3(CACNA1H):c.5173+19G>A
|
rs753759563
|
|
NM_021098.3(CACNA1H):c.5173+5GTGCCCGC[3]
|
|
|
NM_021098.3(CACNA1H):c.5174-16C>T
|
rs1483955081
|
|
NM_021098.3(CACNA1H):c.5174-20C>G
|
|
|
NM_021098.3(CACNA1H):c.5174-8G>C
|
|
|
NM_021098.3(CACNA1H):c.5174-9C>T
|
|
|
NM_021098.3(CACNA1H):c.5190G>A (p.Lys1730=)
|
rs2141377988
|
|
NM_021098.3(CACNA1H):c.5199G>A (p.Thr1733=)
|
|
|
NM_021098.3(CACNA1H):c.5212C>T (p.Leu1738=)
|
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
NM_021098.3(CACNA1H):c.5241C>T (p.Pro1747=)
|
rs1969956083
|
|
NM_021098.3(CACNA1H):c.5244+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5244+13C>T
|
|
|
NM_021098.3(CACNA1H):c.5244+14G>C
|
|
|
NM_021098.3(CACNA1H):c.5244+15C>T
|
|
|
NM_021098.3(CACNA1H):c.5245-10T>C
|
|
|
NM_021098.3(CACNA1H):c.5245-11C>G
|
rs150441087
|
|
NM_021098.3(CACNA1H):c.5245-11C>T
|
rs150441087
|
|
NM_021098.3(CACNA1H):c.5245-14TC[2]
|
rs748281496
|
|
NM_021098.3(CACNA1H):c.5245-16C>T
|
|
|
NM_021098.3(CACNA1H):c.5274C>G (p.Leu1758=)
|
|
|
NM_021098.3(CACNA1H):c.5286C>T (p.Ile1762=)
|
rs1596473364
|
|
NM_021098.3(CACNA1H):c.5295G>T (p.Ala1765=)
|
|
|
NM_021098.3(CACNA1H):c.5323+12C>G
|
rs776271153
|
|
NM_021098.3(CACNA1H):c.5323+15C>T
|
|
|
NM_021098.3(CACNA1H):c.5323+20T>C
|
|
|
NM_021098.3(CACNA1H):c.5324-16G>A
|
rs374872701
|
|
NM_021098.3(CACNA1H):c.5324-16G>T
|
rs374872701
|
|
NM_021098.3(CACNA1H):c.5324-7C>A
|
|
|
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile)
|
rs1439949443
|
|
NM_021098.3(CACNA1H):c.5335G>T (p.Asp1779Tyr)
|
rs551983302
|
|
NM_021098.3(CACNA1H):c.5343C>T (p.Pro1781=)
|
|
|
NM_021098.3(CACNA1H):c.5352C>T (p.Gly1784=)
|
|
|
NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=)
|
|
|
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=)
|
rs868670809
|
|
NM_021098.3(CACNA1H):c.5370C>T (p.Thr1790=)
|
|
|
NM_021098.3(CACNA1H):c.537C>T (p.Val179=)
|
rs368785828
|
|
NM_021098.3(CACNA1H):c.5400G>A (p.Thr1800=)
|
|
|
NM_021098.3(CACNA1H):c.5400G>T (p.Thr1800=)
|
|
|
NM_021098.3(CACNA1H):c.5412G>A (p.Val1804=)
|
rs1474330900
|
|
NM_021098.3(CACNA1H):c.5436G>A (p.Gly1812=)
|
|
|
NM_021098.3(CACNA1H):c.5445+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5445+15C>A
|
|
|
NM_021098.3(CACNA1H):c.5445+17T>C
|
rs1455671585
|
|
NM_021098.3(CACNA1H):c.5445+19C>A
|
|
|
NM_021098.3(CACNA1H):c.5446-14G>C
|
|
|
NM_021098.3(CACNA1H):c.5446-19C>T
|
|
|
NM_021098.3(CACNA1H):c.545+10G>A
|
rs748867788
|
|
NM_021098.3(CACNA1H):c.545+12C>T
|
|
|
NM_021098.3(CACNA1H):c.545+20G>T
|
|
|
NM_021098.3(CACNA1H):c.5457C>T (p.Arg1819=)
|
rs749678010
|
|
NM_021098.3(CACNA1H):c.546-14G>T
|
rs779875096
|
|
NM_021098.3(CACNA1H):c.546-15C>T
|
|
|
NM_021098.3(CACNA1H):c.5463C>T (p.Cys1821=)
|
rs1328976081
|
|
NM_021098.3(CACNA1H):c.5490C>T (p.Ser1830=)
|
rs776339332
|
|
NM_021098.3(CACNA1H):c.54G>A (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.54G>T (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=)
|
|
|
NM_021098.3(CACNA1H):c.5514C>G (p.Val1838=)
|
|
|
NM_021098.3(CACNA1H):c.5556G>A (p.Val1852=)
|
|
|
NM_021098.3(CACNA1H):c.5574G>A (p.Val1858=)
|
rs2141394320
|
|
NM_021098.3(CACNA1H):c.5587C>T (p.Leu1863=)
|
|
|
NM_021098.3(CACNA1H):c.5619T>C (p.Asp1873=)
|
|
|
NM_021098.3(CACNA1H):c.5628G>C (p.Leu1876=)
|
rs1284603054
|
|
NM_021098.3(CACNA1H):c.5631C>T (p.Asp1877=)
|
|
|
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=)
|
rs58632975
|
|
NM_021098.3(CACNA1H):c.5661C>T (p.Gly1887=)
|
rs2141394888
|
|
NM_021098.3(CACNA1H):c.5664C>G (p.Pro1888=)
|
rs761380706
|
|
NM_021098.3(CACNA1H):c.5674C>T (p.Arg1892Cys)
|
|
|
NM_021098.3(CACNA1H):c.5683G>C (p.Asp1895His)
|
|
|
NM_021098.3(CACNA1H):c.5700C>G (p.Pro1900=)
|
rs546638839
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
NM_021098.3(CACNA1H):c.5724C>T (p.Ala1908=)
|
|
|
NM_021098.3(CACNA1H):c.5760C>G (p.Ser1920=)
|
rs144424401
|
|
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.577G>C (p.Val193Leu)
|
|
|
NM_021098.3(CACNA1H):c.5784C>G (p.Pro1928=)
|
rs767261951
|
|
NM_021098.3(CACNA1H):c.579G>A (p.Val193=)
|
rs2141202280
|
|
NM_021098.3(CACNA1H):c.5844G>C (p.Leu1948=)
|
|
|
NM_021098.3(CACNA1H):c.5887+10_5887+20del
|
rs1290317498
|
|
NM_021098.3(CACNA1H):c.5887+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5887+15A>G
|
|
|
NM_021098.3(CACNA1H):c.5887+19A>G
|
|
|
NM_021098.3(CACNA1H):c.5888-17A>G
|
|
|
NM_021098.3(CACNA1H):c.5888-3del
|
|
|
NM_021098.3(CACNA1H):c.588G>C (p.Ser196=)
|
rs749822770
|
|
NM_021098.3(CACNA1H):c.5937C>T (p.Leu1979=)
|
|
|
NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=)
|
|
|
NM_021098.3(CACNA1H):c.5970G>A (p.Arg1990=)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe)
|
rs549364922
|
|
NM_021098.3(CACNA1H):c.5996C>G (p.Ser1999Cys)
|
|
|
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe)
|
rs1037177615
|
|
NM_021098.3(CACNA1H):c.599C>T (p.Thr200Ile)
|
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6002G>T (p.Arg2001Leu)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6009A>T (p.Thr2003=)
|
|
|
NM_021098.3(CACNA1H):c.600C>T (p.Thr200=)
|
|
|
NM_021098.3(CACNA1H):c.6021C>T (p.Pro2007=)
|
|
|
NM_021098.3(CACNA1H):c.6048+12C>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17G>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
NM_021098.3(CACNA1H):c.6049-12A>G
|
|
|
NM_021098.3(CACNA1H):c.6049-19T>C
|
|
|
NM_021098.3(CACNA1H):c.6049-8C>T
|
|
|
NM_021098.3(CACNA1H):c.6057G>A (p.Val2019=)
|
|
|
NM_021098.3(CACNA1H):c.6063C>T (p.Thr2021=)
|
rs780400494
|
|
NM_021098.3(CACNA1H):c.6069C>T (p.Ser2023=)
|
|
|
NM_021098.3(CACNA1H):c.6084T>A (p.Ile2028=)
|
rs1596479765
|
|
NM_021098.3(CACNA1H):c.6090C>T (p.Ser2030=)
|
|
|
NM_021098.3(CACNA1H):c.610C>T (p.Leu204=)
|
rs2141202599
|
|
NM_021098.3(CACNA1H):c.6120T>C (p.Pro2040=)
|
rs1596479859
|
|
NM_021098.3(CACNA1H):c.613C>T (p.Arg205Trp)
|
|
|
NM_021098.3(CACNA1H):c.6159C>A (p.Gly2053=)
|
rs755452106
|
|
NM_021098.3(CACNA1H):c.6174A>C (p.Pro2058=)
|
rs748190834
|
|
NM_021098.3(CACNA1H):c.6187C>G (p.Arg2063Gly)
|
|
|
NM_021098.3(CACNA1H):c.618C>G (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.618C>T (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.6207T>C (p.Thr2069=)
|
rs1970366738
|
|
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=)
|
rs771719773
|
|
NM_021098.3(CACNA1H):c.6255C>T (p.Ala2085=)
|
rs751609693
|
|
NM_021098.3(CACNA1H):c.6282G>C (p.Ser2094=)
|
|
|
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp)
|
|
|
NM_021098.3(CACNA1H):c.6312C>T (p.Ile2104=)
|
rs1224881281
|
|
NM_021098.3(CACNA1H):c.6345C>A (p.Ala2115=)
|
rs529859576
|
|
NM_021098.3(CACNA1H):c.634C>A (p.Arg212Ser)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6357C>T (p.Gly2119=)
|
rs754165259
|
|
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)
|
rs752385455
|
|
NM_021098.3(CACNA1H):c.6405C>G (p.Leu2135=)
|
|
|
NM_021098.3(CACNA1H):c.6408C>T (p.Tyr2136=)
|
|
|
NM_021098.3(CACNA1H):c.643+14C>T
|
|
|
NM_021098.3(CACNA1H):c.643+15C>A
|
rs59026203
|
|
NM_021098.3(CACNA1H):c.643+19C>A
|
rs754111189
|
|
NM_021098.3(CACNA1H):c.643+8A>G
|
|
|
NM_021098.3(CACNA1H):c.643+9C>T
|
|
|
NM_021098.3(CACNA1H):c.644-14C>T
|
|
|
NM_021098.3(CACNA1H):c.644-19C>T
|
|
|
NM_021098.3(CACNA1H):c.6456G>A (p.Glu2152=)
|
rs1970387497
|
|
NM_021098.3(CACNA1H):c.6459G>A (p.Gln2153=)
|
|
|
NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=)
|
|
|
NM_021098.3(CACNA1H):c.6471G>A (p.Ser2157=)
|
|
|
NM_021098.3(CACNA1H):c.6493C>G (p.Pro2165Ala)
|
|
|
NM_021098.3(CACNA1H):c.6497G>C (p.Gly2166Ala)
|
|
|
NM_021098.3(CACNA1H):c.6498G>A (p.Gly2166=)
|
|
|
NM_021098.3(CACNA1H):c.6503C>T (p.Ala2168Val)
|
|
|
NM_021098.3(CACNA1H):c.6507G>A (p.Lys2169=)
|
rs1555521007
|
|
NM_021098.3(CACNA1H):c.651G>A (p.Arg217=)
|
rs1455037011
|
|
NM_021098.3(CACNA1H):c.6525C>G (p.Ala2175=)
|
rs1329243659
|
|
NM_021098.3(CACNA1H):c.6525C>T (p.Ala2175=)
|
|
|
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp)
|
|
|
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser)
|
rs538538654
|
|
NM_021098.3(CACNA1H):c.6570C>A (p.Pro2190=)
|
rs1046847004
|
|
NM_021098.3(CACNA1H):c.657G>A (p.Leu219=)
|
rs376669194
|
|
NM_021098.3(CACNA1H):c.6606C>A (p.Gly2202=)
|
rs1233255850
|
|
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=)
|
rs371375487
|
|
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=)
|
rs371375487
|
|
NM_021098.3(CACNA1H):c.6636C>T (p.Gly2212=)
|
|
|
NM_021098.3(CACNA1H):c.6642C>T (p.Thr2214=)
|
rs1555521091
|
|
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
|
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
NM_021098.3(CACNA1H):c.6693C>T (p.Ser2231=)
|
rs756073800
|
|
NM_021098.3(CACNA1H):c.6714A>C (p.Ser2238=)
|
rs1970410954
|
|
NM_021098.3(CACNA1H):c.6714A>G (p.Ser2238=)
|
|
|
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=)
|
rs375725132
|
|
NM_021098.3(CACNA1H):c.6723G>C (p.Gly2241=)
|
|
|
NM_021098.3(CACNA1H):c.6729C>T (p.Asp2243=)
|
rs534649086
|
|
NM_021098.3(CACNA1H):c.6792C>T (p.Pro2264=)
|
rs1292750287
|
|
NM_021098.3(CACNA1H):c.6822G>A (p.Gly2274=)
|
|
|
NM_021098.3(CACNA1H):c.6831T>C (p.Ser2277=)
|
rs772341545
|
|
NM_021098.3(CACNA1H):c.6848A>G (p.Asp2283Gly)
|
rs58597457
|
|
NM_021098.3(CACNA1H):c.6850G>A (p.Gly2284Ser)
|
|
|
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=)
|
rs1468998569
|
|
NM_021098.3(CACNA1H):c.6876C>T (p.Ser2292=)
|
|
|
NM_021098.3(CACNA1H):c.6900A>T (p.Ile2300=)
|
rs762822116
|
|
NM_021098.3(CACNA1H):c.690C>G (p.Leu230=)
|
|
|
NM_021098.3(CACNA1H):c.7023C>G (p.Ala2341=)
|
|
|
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=)
|
rs745960698
|
|
NM_021098.3(CACNA1H):c.703C>T (p.Leu235=)
|
rs1967297712
|
|
NM_021098.3(CACNA1H):c.7041T>C (p.Gly2347=)
|
|
|
NM_021098.3(CACNA1H):c.705G>C (p.Leu235=)
|
rs368520506
|
|
NM_021098.3(CACNA1H):c.708G>T (p.Leu236=)
|
rs2141220799
|
|
NM_021098.3(CACNA1H):c.717C>T (p.Phe239=)
|
|
|
NM_021098.3(CACNA1H):c.720C>T (p.Val240=)
|
|
|
NM_021098.3(CACNA1H):c.753C>G (p.Leu251=)
|
rs2141221266
|
|
NM_021098.3(CACNA1H):c.75G>A (p.Leu25=)
|
|
|
NM_021098.3(CACNA1H):c.765C>T (p.Leu255=)
|
rs778810951
|
|
NM_021098.3(CACNA1H):c.780C>T (p.Cys260=)
|
rs1257224911
|
|
NM_021098.3(CACNA1H):c.785T>C (p.Leu262Pro)
|
rs570282553
|
|
NM_021098.3(CACNA1H):c.795C>G (p.Ala265=)
|
|
|
NM_021098.3(CACNA1H):c.803+17C>G
|
|
|
NM_021098.3(CACNA1H):c.803+18C>T
|
|
|
NM_021098.3(CACNA1H):c.803+20G>A
|
|
|
NM_021098.3(CACNA1H):c.803+9G>A
|
rs1567502713
|
|
NM_021098.3(CACNA1H):c.804-10C>T
|
|
|
NM_021098.3(CACNA1H):c.804-12G>T
|
|
|
NM_021098.3(CACNA1H):c.804-15T>C
|
rs2141241218
|
|
NM_021098.3(CACNA1H):c.804-16C>T
|
|
|
NM_021098.3(CACNA1H):c.804-4C>G
|
|
|
NM_021098.3(CACNA1H):c.804-6C>T
|
|
|
NM_021098.3(CACNA1H):c.804-9C>T
|
|
|
NM_021098.3(CACNA1H):c.81G>A (p.Gly27=)
|
rs2151603478
|
|
NM_021098.3(CACNA1H):c.831G>A (p.Pro277=)
|
rs374861940
|
|
NM_021098.3(CACNA1H):c.831G>C (p.Pro277=)
|
rs374861940
|
|
NM_021098.3(CACNA1H):c.849G>A (p.Glu283=)
|
rs1056868756
|
|
NM_021098.3(CACNA1H):c.861C>T (p.Asn287=)
|
|
|
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=)
|
rs369201438
|
|
NM_021098.3(CACNA1H):c.864G>C (p.Pro288=)
|
rs369201438
|
|
NM_021098.3(CACNA1H):c.870C>T (p.Ile290=)
|
rs373205962
|
|
NM_021098.3(CACNA1H):c.915C>A (p.Ile305=)
|
|
|
NM_021098.3(CACNA1H):c.927C>A (p.Arg309=)
|
|
|
NM_021098.3(CACNA1H):c.936C>A (p.Arg312=)
|
rs780299000
|
|
NM_021098.3(CACNA1H):c.948C>A (p.Thr316=)
|
rs1243283601
|
|
NM_021098.3(CACNA1H):c.948C>T (p.Thr316=)
|
rs1243283601
|
|
NM_021098.3(CACNA1H):c.949C>T (p.Leu317=)
|
|
|
NM_021098.3(CACNA1H):c.967A>G (p.Thr323Ala)
|
|
|
NM_021098.3(CACNA1H):c.969G>C (p.Thr323=)
|
|
|
NM_021098.3(CACNA1H):c.975G>A (p.Pro325=)
|
|
|
NM_021098.3(CACNA1H):c.975G>T (p.Pro325=)
|
rs771782530
|
|
NM_021098.3(CACNA1H):c.981C>T (p.Ala327=)
|
rs761021717
|
|
NM_021098.3(CACNA1H):c.987G>A (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.993C>T (p.Gly331=)
|
rs770821118
|
|
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)
|
rs529471626
|
|
NM_021098.3(CACNA1H):c.99C>T (p.Pro33=)
|
|
|