NM_000890.5(KCNJ5):c.-293C>G
|
rs376640553
|
0.32896
|
NM_000890.5(KCNJ5):c.-295C>G
|
rs372328307
|
0.22991
|
NM_000890.5(KCNJ5):c.-297C>G
|
rs71470654
|
0.19749
|
NM_000890.5(KCNJ5):c.-299C>G
|
rs71470655
|
0.13635
|
NM_000529.2(MC2R):c.*998T>A
|
rs4797823
|
0.13235
|
NM_000890.5(KCNJ5):c.-303C>G
|
rs866881260
|
0.06090
|
NM_000529.2(MC2R):c.*996A>T
|
rs4996467
|
0.05839
|
NM_000529.2(MC2R):c.*1000T>A
|
rs886053636
|
0.03268
|
NM_000890.5(KCNJ5):c.-305C>G
|
rs1460266228
|
0.01893
|
NM_000529.2(MC2R):c.*1002T>A
|
rs761446119
|
0.01879
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000497.4(CYP11B1):c.1122-20A>G
|
rs61752794
|
0.01661
|
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)
|
rs35887327
|
0.01309
|
NM_015665.6(AAAS):c.-130C>T
|
rs149864679
|
0.00832
|
NM_001395413.1(POR):c.*51C>T
|
rs41302345
|
0.00770
|
NM_000198.3(HSD3B2):c.-145G>A
|
rs35226381
|
0.00744
|
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=)
|
rs9657022
|
0.00726
|
NM_001395413.1(POR):c.360C>T (p.Ala120=)
|
rs41299490
|
0.00719
|
NM_031925.3(TMEM120A):c.*305A>C
|
rs41302351
|
0.00710
|
NM_001395413.1(POR):c.78G>A (p.Thr26=)
|
rs41295381
|
0.00681
|
NM_000890.5(KCNJ5):c.-307C>G
|
rs1468425197
|
0.00660
|
NM_001395413.1(POR):c.1889+3G>A
|
rs41301439
|
0.00568
|
NM_000102.4(CYP17A1):c.-14G>A
|
rs17115125
|
0.00562
|
NM_000529.2(MC2R):c.*994A>T
|
rs4996466
|
0.00471
|
NM_001395413.1(POR):c.*240C>T
|
rs13921
|
0.00471
|
NM_001395413.1(POR):c.508-4G>A
|
rs41299496
|
0.00462
|
NM_000529.2(MC2R):c.*990A>T
|
rs993146709
|
0.00455
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000529.2(MC2R):c.*578C>A
|
rs34482956
|
0.00404
|
NM_015665.6(AAAS):c.679T>C (p.Leu227=)
|
rs80027466
|
0.00392
|
NM_000890.5(KCNJ5):c.-289G>C
|
rs60658163
|
0.00389
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)
|
rs6207
|
0.00387
|
NM_001395413.1(POR):c.*63C>T
|
rs72557961
|
0.00342
|
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=)
|
rs5290
|
0.00338
|
NM_000529.2(MC2R):c.*1537A>G
|
rs34722656
|
0.00332
|
NM_000349.3(STAR):c.*395G>A
|
rs115807877
|
0.00320
|
NM_000529.2(MC2R):c.*1004T>A
|
rs1313532679
|
0.00291
|
NM_001395413.1(POR):c.674C>T (p.Pro225Leu)
|
rs17853284
|
0.00271
|
NM_000349.3(STAR):c.*1122T>A
|
rs72556520
|
0.00254
|
NM_015665.6(AAAS):c.-73G>A
|
rs561616104
|
0.00252
|
NM_000349.3(STAR):c.433G>A (p.Gly145Arg)
|
rs80231229
|
0.00250
|
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp)
|
rs61752766
|
0.00248
|
NM_000529.2(MC2R):c.*582C>A
|
rs34861769
|
0.00237
|
NM_000497.4(CYP11B1):c.395+9C>T
|
rs61751140
|
0.00235
|
NM_000349.3(STAR):c.*981A>G
|
rs188232971
|
0.00228
|
NM_000529.2(MC2R):c.*1452A>G
|
rs34158267
|
0.00225
|
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
|
rs143240527
|
0.00204
|
NM_000349.3(STAR):c.*1472C>T
|
rs7833285
|
0.00203
|
NM_000349.3(STAR):c.361C>T (p.Arg121Trp)
|
rs34908868
|
0.00193
|
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
|
rs144029176
|
0.00193
|
NM_000349.3(STAR):c.687G>A (p.Pro229=)
|
rs35852516
|
0.00180
|
NM_000349.3(STAR):c.*116T>G
|
rs35462433
|
0.00179
|
NM_001395413.1(POR):c.1889+13G>T
|
rs72557956
|
0.00178
|
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His)
|
rs141368413
|
0.00177
|
NM_000349.3(STAR):c.141G>A (p.Thr47=)
|
rs147318238
|
0.00173
|
NM_001395413.1(POR):c.*60C>T
|
rs72557960
|
0.00173
|
NM_000941.2(POR):c.-33G>T
|
rs72553977
|
0.00172
|
NM_000349.3(STAR):c.*88G>C
|
rs112828857
|
0.00169
|
NM_001395413.1(POR):c.-14G>C
|
rs886062438
|
0.00167
|
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=)
|
rs151335623
|
0.00158
|
NM_015665.6(AAAS):c.1249+8G>A
|
rs200834285
|
0.00155
|
NM_000198.4(HSD3B2):c.*397T>A
|
rs753468192
|
0.00153
|
NM_001395413.1(POR):c.975C>T (p.Ala325=)
|
rs72557941
|
0.00136
|
NM_000349.3(STAR):c.504C>T (p.His168=)
|
rs147138315
|
0.00134
|
NM_000529.2(MC2R):c.133G>A (p.Val45Ile)
|
rs148298654
|
0.00128
|
NM_000529.2(MC2R):c.429C>T (p.Thr143=)
|
rs138421793
|
0.00127
|
NM_000498.3(CYP11B2):c.*1340T>A
|
rs61763988
|
0.00124
|
NM_000349.3(STAR):c.650+13G>T
|
rs377756089
|
0.00123
|
NM_000349.3(STAR):c.*230A>G
|
rs34575008
|
0.00120
|
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys)
|
rs61754263
|
0.00116
|
NM_000349.3(STAR):c.466-5G>A
|
rs375678713
|
0.00111
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_000349.3(STAR):c.481G>A (p.Gly161Arg)
|
rs188044385
|
0.00103
|
NM_000498.3(CYP11B2):c.*789G>A
|
rs61763990
|
0.00095
|
NM_001395413.1(POR):c.308A>G (p.His103Arg)
|
rs200622912
|
0.00093
|
NM_000890.5(KCNJ5):c.*191C>T
|
rs575827982
|
0.00092
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_031925.3(TMEM120A):c.*319C>T
|
rs2286824
|
0.00088
|
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
|
rs35486059
|
0.00087
|
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)
|
rs143758913
|
0.00087
|
NM_001379228.1(MRAP):c.508T>A (p.Leu170Met)
|
rs142897309
|
0.00083
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_000349.3(STAR):c.*1557A>G
|
rs774615544
|
0.00074
|
NM_000529.2(MC2R):c.*992A>T
|
rs897474751
|
0.00074
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000349.3(STAR):c.*880C>T
|
rs548810270
|
0.00067
|
NM_000529.2(MC2R):c.765G>A (p.Met255Ile)
|
rs181640454
|
0.00062
|
NM_001395413.1(POR):c.*76G>A
|
rs55909219
|
0.00062
|
NM_001395413.1(POR):c.1106C>T (p.Thr369Met)
|
rs367810540
|
0.00058
|
NM_001395413.1(POR):c.1806+12G>A
|
rs371432868
|
0.00058
|
NM_000349.3(STAR):c.179-14G>A
|
rs117578796
|
0.00057
|
NM_000349.3(STAR):c.*818G>A
|
rs558498679
|
0.00054
|
NM_000102.4(CYP17A1):c.*65C>A
|
rs537220295
|
0.00051
|
NM_001395413.1(POR):c.390C>T (p.Asn130=)
|
rs181837747
|
0.00049
|
NM_001395413.1(POR):c.1516C>T (p.Arg506Cys)
|
rs374141883
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
|
rs34412477
|
0.00047
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_001395413.1(POR):c.633-5C>G
|
rs72555509
|
0.00047
|
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)
|
rs201009269
|
0.00045
|
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr)
|
rs6407
|
0.00044
|
NM_000890.5(KCNJ5):c.-63G>C
|
rs557063967
|
0.00044
|
NM_001395413.1(POR):c.889G>A (p.Glu297Lys)
|
rs11540674
|
0.00044
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_000349.3(STAR):c.306+10G>A
|
rs200480072
|
0.00043
|
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
|
rs75429891
|
0.00042
|
NM_001395413.1(POR):c.898C>T (p.Leu300Phe)
|
rs201649877
|
0.00042
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_000102.3(CYP17A1):c.-166G>C
|
rs58519757
|
0.00041
|
NM_000529.2(MC2R):c.795C>T (p.Ile265=)
|
rs141349908
|
0.00041
|
NM_000497.4(CYP11B1):c.*614C>T
|
rs772616356
|
0.00040
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)
|
rs112579822
|
0.00039
|
NM_000102.4(CYP17A1):c.753+13G>A
|
rs201956379
|
0.00036
|
NM_006440.5(TXNRD2):c.650C>A (p.Ser217Tyr)
|
rs201913959
|
0.00036
|
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)
|
rs150892928
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001395413.1(POR):c.1095G>A (p.Thr365=)
|
rs150414675
|
0.00034
|
NM_000349.3(STAR):c.*930C>T
|
rs915400542
|
0.00033
|
NM_013335.4(GMPPA):c.1150A>G (p.Ile384Val)
|
rs370710427
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_000102.4(CYP17A1):c.298-11G>C
|
rs188885755
|
0.00031
|
NM_000349.3(STAR):c.-70G>T
|
rs370257148
|
0.00031
|
NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)
|
rs144873582
|
0.00031
|
NM_015665.6(AAAS):c.63C>G (p.His21Gln)
|
rs200408293
|
0.00030
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
NM_000349.3(STAR):c.*1543C>A
|
rs748527738
|
0.00029
|
NM_000349.3(STAR):c.*187T>C
|
rs779430429
|
0.00029
|
NM_001379228.1(MRAP):c.219G>A (p.Lys73=)
|
rs201238667
|
0.00029
|
NM_001395413.1(POR):c.1512C>T (p.Gly504=)
|
rs370823127
|
0.00029
|
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val)
|
rs538959856
|
0.00029
|
NM_021098.3(CACNA1H):c.2605G>A (p.Val869Ile)
|
rs531253297
|
0.00029
|
NM_013335.4(GMPPA):c.466G>A (p.Val156Ile)
|
rs138077680
|
0.00028
|
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr)
|
rs137978189
|
0.00027
|
NM_015665.6(AAAS):c.1416+8C>T
|
rs370325323
|
0.00027
|
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)
|
rs199914911
|
0.00026
|
NM_000529.2(MC2R):c.537G>A (p.Thr179=)
|
rs137893541
|
0.00025
|
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer)
|
rs774660673
|
0.00025
|
NM_000349.3(STAR):c.*1513C>G
|
rs963043269
|
0.00024
|
NM_000497.4(CYP11B1):c.*613A>G
|
rs1137480
|
0.00024
|
NM_001395413.1(POR):c.*179G>A
|
rs184275273
|
0.00024
|
NM_001395413.1(POR):c.*273T>C
|
rs782378740
|
0.00024
|
NM_001395413.1(POR):c.1806+8G>A
|
rs72557952
|
0.00024
|
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=)
|
rs147557447
|
0.00023
|
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)
|
rs193922534
|
0.00023
|
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser)
|
rs764636694
|
0.00023
|
NM_001395413.1(POR):c.1482G>T (p.Leu494=)
|
rs370326231
|
0.00023
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter)
|
rs761719764
|
0.00023
|
NM_000890.5(KCNJ5):c.*960G>C
|
rs186315097
|
0.00022
|
NM_021098.3(CACNA1H):c.6049-3C>T
|
rs143900018
|
0.00022
|
NM_000529.2(MC2R):c.*1870A>G
|
rs142781228
|
0.00021
|
NM_001395413.1(POR):c.*218C>T
|
rs539326245
|
0.00021
|
NM_001395413.1(POR):c.735C>T (p.Tyr245=)
|
rs201786397
|
0.00021
|
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu)
|
rs1045818263
|
0.00021
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
NM_000497.4(CYP11B1):c.1016C>T (p.Ala339Val)
|
rs193922536
|
0.00019
|
NM_001395413.1(POR):c.*178C>T
|
rs535637875
|
0.00019
|
NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)
|
rs200871966
|
0.00019
|
NM_015665.6(AAAS):c.996+12C>T
|
rs200312077
|
0.00019
|
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)
|
rs202019417
|
0.00019
|
NM_021098.3(CACNA1H):c.3363+6G>A
|
rs574199321
|
0.00019
|
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn)
|
rs552269381
|
0.00019
|
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)
|
rs142037395
|
0.00018
|
NM_000349.3(STAR):c.*698C>A
|
rs558290486
|
0.00018
|
NM_000349.3(STAR):c.*699C>G
|
rs540152389
|
0.00018
|
NM_000941.2(POR):c.-80A>C
|
rs886062437
|
0.00018
|
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
NM_001379228.1(MRAP):c.271C>A (p.Gln91Lys)
|
rs376465589
|
0.00017
|
NM_001395413.1(POR):c.180-10T>C
|
rs374111607
|
0.00017
|
NM_021098.3(CACNA1H):c.4777+5C>T
|
rs370513262
|
0.00017
|
NM_000497.4(CYP11B1):c.375C>G (p.His125Gln)
|
rs201137503
|
0.00016
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_000529.2(MC2R):c.-129+10T>C
|
rs750975919
|
0.00016
|
NM_000529.2(MC2R):c.21G>A (p.Ser7=)
|
rs371151390
|
0.00016
|
NM_001395413.1(POR):c.1208G>A (p.Arg403His)
|
rs72557929
|
0.00016
|
NM_001395413.1(POR):c.506C>T (p.Ala169Val)
|
rs374967948
|
0.00016
|
NM_001395413.1(POR):c.841C>A (p.Pro281Thr)
|
rs72557937
|
0.00016
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)
|
rs375325893
|
0.00016
|
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)
|
rs200709671
|
0.00016
|
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His)
|
rs370384766
|
0.00016
|
NM_000349.3(STAR):c.178+7G>A
|
rs376633284
|
0.00015
|
NM_000497.4(CYP11B1):c.*345C>A
|
rs368195405
|
0.00015
|
NM_000497.4(CYP11B1):c.*737C>T
|
rs748684062
|
0.00015
|
NM_000529.2(MC2R):c.435C>T (p.Arg145=)
|
rs369830440
|
0.00015
|
NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg)
|
rs201775251
|
0.00015
|
NM_001395413.1(POR):c.793C>T (p.Arg265Trp)
|
rs200471958
|
0.00015
|
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met)
|
rs370975488
|
0.00015
|
NM_000198.4(HSD3B2):c.-106T>C
|
rs587688647
|
0.00014
|
NM_000497.4(CYP11B1):c.*1264A>C
|
rs547356106
|
0.00014
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_001395413.1(POR):c.1255T>G (p.Trp419Gly)
|
rs536353066
|
0.00014
|
NM_001395413.1(POR):c.1700G>A (p.Arg567His)
|
rs372955296
|
0.00014
|
NM_001395413.1(POR):c.2009G>A (p.Arg670His)
|
rs376693603
|
0.00014
|
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
0.00014
|
NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)
|
rs368094339
|
0.00014
|
NM_021098.3(CACNA1H):c.1119+6C>T
|
rs372159580
|
0.00014
|
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln)
|
rs1180154075
|
0.00014
|
NM_000198.4(HSD3B2):c.308-8G>A
|
rs371712928
|
0.00013
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
NM_001395413.1(POR):c.149A>T (p.Glu50Val)
|
rs376145249
|
0.00013
|
NM_001395413.1(POR):c.391G>A (p.Ala131Thr)
|
rs201365892
|
0.00013
|
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro)
|
rs143751880
|
0.00013
|
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)
|
rs777217625
|
0.00013
|
NM_000498.3(CYP11B2):c.*993A>G
|
rs61763989
|
0.00012
|
NM_000529.2(MC2R):c.*366G>T
|
rs768500810
|
0.00012
|
NM_000890.5(KCNJ5):c.-272A>G
|
rs886048007
|
0.00012
|
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu)
|
rs200337116
|
0.00012
|
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
0.00012
|
NM_000198.4(HSD3B2):c.423C>T (p.His141=)
|
rs751470493
|
0.00011
|
NM_000349.2(STAR):c.-255G>T
|
rs567801443
|
0.00011
|
NM_000497.4(CYP11B1):c.104T>C (p.Val35Ala)
|
rs201951316
|
0.00011
|
NM_000529.2(MC2R):c.*673C>T
|
rs1039130161
|
0.00011
|
NM_000529.2(MC2R):c.377C>T (p.Ala126Val)
|
rs368669544
|
0.00011
|
NM_001395413.1(POR):c.1419G>A (p.Ala473=)
|
rs782722572
|
0.00011
|
NM_001395413.1(POR):c.1755C>T (p.Asp585=)
|
rs72557949
|
0.00011
|
NM_001395413.1(POR):c.1867G>A (p.Gly623Ser)
|
rs369181144
|
0.00011
|
NM_001395413.1(POR):c.710G>A (p.Gly237Asp)
|
rs782746344
|
0.00011
|
NM_013335.4(GMPPA):c.958C>T (p.Arg320Trp)
|
rs549821547
|
0.00011
|
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg)
|
rs369898856
|
0.00011
|
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
|
rs56930579
|
0.00011
|
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)
|
rs374847612
|
0.00011
|
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met)
|
rs747265858
|
0.00011
|
NM_000497.4(CYP11B1):c.*1209C>T
|
rs757505651
|
0.00010
|
NM_000498.3(CYP11B2):c.*504C>T
|
rs201487778
|
0.00010
|
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met)
|
rs151344505
|
0.00010
|
NM_000890.5(KCNJ5):c.-35G>C
|
rs572785542
|
0.00010
|
NM_001395413.1(POR):c.1191G>A (p.Ser397=)
|
rs372401863
|
0.00010
|
NM_001395413.1(POR):c.150A>C (p.Glu50Asp)
|
rs370701548
|
0.00010
|
NM_001395413.1(POR):c.1578G>A (p.Thr526=)
|
rs371795413
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)
|
rs370675810
|
0.00010
|
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His)
|
rs200627008
|
0.00010
|
NM_000102.4(CYP17A1):c.-15C>T
|
rs140012815
|
0.00009
|
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)
|
rs145117545
|
0.00009
|
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=)
|
rs112892739
|
0.00009
|
NM_000198.4(HSD3B2):c.*46C>T
|
rs371081728
|
0.00009
|
NM_000349.3(STAR):c.*913C>T
|
rs551135472
|
0.00009
|
NM_000349.3(STAR):c.108C>T (p.Asn36=)
|
rs373945555
|
0.00009
|
NM_000497.4(CYP11B1):c.*946G>A
|
rs1312537684
|
0.00009
|
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp)
|
rs374517238
|
0.00009
|
NM_000529.2(MC2R):c.*911A>C
|
rs886053643
|
0.00009
|
NM_001395413.1(POR):c.1806+7C>T
|
rs72557951
|
0.00009
|
NM_001395413.1(POR):c.1933G>A (p.Asp645Asn)
|
rs372930296
|
0.00009
|
NM_001395413.1(POR):c.357+14G>A
|
rs372941705
|
0.00009
|
NM_001395413.1(POR):c.571C>T (p.Arg191Trp)
|
rs782025961
|
0.00009
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
NM_013335.4(GMPPA):c.108G>C (p.Met36Ile)
|
rs745438072
|
0.00009
|
NM_013335.4(GMPPA):c.877G>A (p.Ala293Thr)
|
rs151043830
|
0.00009
|
NM_015665.6(AAAS):c.843C>G (p.Pro281=)
|
rs145196232
|
0.00009
|
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
|
rs374363044
|
0.00009
|
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
|
rs932161061
|
0.00009
|
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser)
|
rs373669637
|
0.00009
|
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
|
rs775405041
|
0.00009
|
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln)
|
rs949170696
|
0.00009
|
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr)
|
rs375015931
|
0.00009
|
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu)
|
rs535814707
|
0.00009
|
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)
|
rs374769118
|
0.00008
|
NM_000349.3(STAR):c.*817C>T
|
rs886062901
|
0.00008
|
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)
|
rs140123041
|
0.00008
|
NM_001395413.1(POR):c.1085C>T (p.Pro362Leu)
|
rs373022822
|
0.00008
|
NM_001395413.1(POR):c.1115C>T (p.Thr372Ile)
|
rs782402961
|
0.00008
|
NM_001395413.1(POR):c.1944T>G (p.Ala648=)
|
rs370865328
|
0.00008
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
NM_015665.6(AAAS):c.308T>C (p.Val103Ala)
|
rs201692749
|
0.00008
|
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His)
|
rs200791167
|
0.00008
|
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser)
|
rs556556052
|
0.00008
|
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)
|
rs780831084
|
0.00008
|
NM_021098.3(CACNA1H):c.5040-3C>T
|
rs769178587
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=)
|
rs367929249
|
0.00008
|
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val)
|
rs587741317
|
0.00007
|
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)
|
rs755461071
|
0.00007
|
NM_000349.3(STAR):c.*897C>T
|
rs1216495200
|
0.00007
|
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=)
|
rs5293
|
0.00007
|
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His)
|
rs150366975
|
0.00007
|
NM_001395413.1(POR):c.1966G>A (p.Ala656Thr)
|
rs373737641
|
0.00007
|
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
|
rs375401465
|
0.00007
|
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr)
|
rs752863555
|
0.00007
|
NM_015665.6(AAAS):c.333C>T (p.Ser111=)
|
rs146770218
|
0.00007
|
NM_015665.6(AAAS):c.939C>T (p.Val313=)
|
rs79881935
|
0.00007
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
0.00007
|
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=)
|
rs200522574
|
0.00007
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr)
|
rs374265107
|
0.00007
|
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)
|
rs575909585
|
0.00007
|
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_000102.4(CYP17A1):c.-33G>A
|
rs754158354
|
0.00006
|
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=)
|
rs554217514
|
0.00006
|
NM_000198.4(HSD3B2):c.*121C>A
|
rs886045198
|
0.00006
|
NM_000198.4(HSD3B2):c.*177C>T
|
rs886045199
|
0.00006
|
NM_000349.3(STAR):c.*93C>T
|
rs776003335
|
0.00006
|
NM_000497.4(CYP11B1):c.*857T>C
|
rs370725779
|
0.00006
|
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser)
|
rs372115638
|
0.00006
|
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp)
|
rs373856010
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000498.3(CYP11B2):c.*205G>A
|
rs1296538192
|
0.00006
|
NM_000529.2(MC2R):c.*1274T>A
|
rs886053623
|
0.00006
|
NM_000529.2(MC2R):c.*216G>A
|
rs184146485
|
0.00006
|
NM_000529.2(MC2R):c.*406C>A
|
rs553257738
|
0.00006
|
NM_000529.2(MC2R):c.808G>A (p.Val270Ile)
|
rs769721256
|
0.00006
|
NM_001379228.1(MRAP):c.486C>G (p.Pro162=)
|
rs146788457
|
0.00006
|
NM_001395413.1(POR):c.*33C>T
|
rs200310098
|
0.00006
|
NM_001395413.1(POR):c.1207C>T (p.Arg403Cys)
|
rs202243657
|
0.00006
|
NM_001395413.1(POR):c.1465G>A (p.Val489Met)
|
rs377451454
|
0.00006
|
NM_001395413.1(POR):c.1750A>G (p.Arg584Gly)
|
rs781795917
|
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.504C>T (p.Phe168=)
|
rs372715546
|
0.00006
|
NM_001395413.1(POR):c.991G>A (p.Val331Ile)
|
rs562241770
|
0.00006
|
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met)
|
rs376497260
|
0.00006
|
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu)
|
rs138573287
|
0.00006
|
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg)
|
rs776058661
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
0.00006
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val)
|
rs754671059
|
0.00006
|
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp)
|
rs373867411
|
0.00006
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln)
|
rs149367557
|
0.00006
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
0.00006
|
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys)
|
rs60760436
|
0.00006
|
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys)
|
rs755405205
|
0.00006
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp)
|
rs771195242
|
0.00006
|
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)
|
rs367584657
|
0.00006
|
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)
|
rs376074317
|
0.00005
|
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly)
|
rs142435666
|
0.00005
|
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)
|
rs376207606
|
0.00005
|
NM_000349.3(STAR):c.563G>A (p.Arg188His)
|
rs61736315
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_000497.4(CYP11B1):c.*670A>C
|
rs879537131
|
0.00005
|
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)
|
rs200151403
|
0.00005
|
NM_000498.3(CYP11B2):c.*879G>A
|
rs375657023
|
0.00005
|
NM_000498.3(CYP11B2):c.845G>A (p.Arg282His)
|
rs769533897
|
0.00005
|
NM_000500.9(CYP21A2):c.939+5G>A
|
rs557564791
|
0.00005
|
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)
|
rs530587789
|
0.00005
|
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)
|
rs746985291
|
0.00005
|
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln)
|
rs150147528
|
0.00005
|
NM_001379228.1(MRAP):c.106+15G>C
|
rs746170274
|
0.00005
|
NM_001395413.1(POR):c.137A>G (p.Lys46Arg)
|
rs782289780
|
0.00005
|
NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)
|
rs72557947
|
0.00005
|
NM_001395413.1(POR):c.1603A>C (p.Thr535Pro)
|
rs782814705
|
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_004366.6(CLCN2):c.1517C>T (p.Ala506Val)
|
rs769768770
|
0.00005
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
NM_013335.4(GMPPA):c.583C>T (p.Arg195Trp)
|
rs147832114
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_021098.3(CACNA1H):c.1067A>G (p.Asn356Ser)
|
rs1967723771
|
0.00005
|
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys)
|
rs577233623
|
0.00005
|
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)
|
rs994418105
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg)
|
rs763407611
|
0.00005
|
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile)
|
rs768438272
|
0.00005
|
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu)
|
rs765181693
|
0.00005
|
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
|
rs752799249
|
0.00005
|
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn)
|
rs555853603
|
0.00005
|
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
|
rs759669950
|
0.00005
|
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)
|
rs377103385
|
0.00005
|
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln)
|
rs762634881
|
0.00005
|
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)
|
rs771909122
|
0.00005
|
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=)
|
rs779167465
|
0.00004
|
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=)
|
rs369081864
|
0.00004
|
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln)
|
rs567775035
|
0.00004
|
NM_000349.3(STAR):c.*1473G>A
|
rs879150926
|
0.00004
|
NM_000349.3(STAR):c.*688C>T
|
rs1374700700
|
0.00004
|
NM_000349.3(STAR):c.178+9T>C
|
rs777624416
|
0.00004
|
NM_000349.3(STAR):c.488A>T (p.Asp163Val)
|
rs201579617
|
0.00004
|
NM_000497.4(CYP11B1):c.*1435T>C
|
rs551125657
|
0.00004
|
NM_000497.4(CYP11B1):c.1122-12C>T
|
rs193922537
|
0.00004
|
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=)
|
rs373736765
|
0.00004
|
NM_000497.4(CYP11B1):c.218A>G (p.Gln73Arg)
|
rs371662064
|
0.00004
|
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys)
|
rs777913851
|
0.00004
|
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)
|
rs762599130
|
0.00004
|
NM_000498.3(CYP11B2):c.*299G>A
|
rs528171695
|
0.00004
|
NM_000498.3(CYP11B2):c.979C>T (p.Leu327Phe)
|
rs769090647
|
0.00004
|
NM_000529.2(MC2R):c.*1039G>A
|
rs966371778
|
0.00004
|
NM_000529.2(MC2R):c.410G>A (p.Arg137Gln)
|
rs1208417750
|
0.00004
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_000890.5(KCNJ5):c.-285G>C
|
rs886048006
|
0.00004
|
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg)
|
rs773604700
|
0.00004
|
NM_001395413.1(POR):c.1389+15T>A
|
rs782664345
|
0.00004
|
NM_001395413.1(POR):c.1418C>T (p.Ala473Val)
|
rs782156085
|
0.00004
|
NM_001395413.1(POR):c.1492G>A (p.Glu498Lys)
|
rs782697310
|
0.00004
|
NM_001395413.1(POR):c.1510G>A (p.Gly504Ser)
|
rs565343242
|
0.00004
|
NM_001395413.1(POR):c.1555C>T (p.Arg519Cys)
|
rs782533830
|
0.00004
|
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)
|
rs1320059073
|
0.00004
|
NM_001395413.1(POR):c.1661-4G>A
|
rs372733766
|
0.00004
|
NM_001395413.1(POR):c.1693G>A (p.Gly565Ser)
|
rs779082897
|
0.00004
|
NM_001395413.1(POR):c.1702C>T (p.Arg568Cys)
|
rs782247167
|
0.00004
|
NM_001395413.1(POR):c.1939G>A (p.Val647Met)
|
rs148175064
|
0.00004
|
NM_001395413.1(POR):c.311G>A (p.Arg104His)
|
rs782776557
|
0.00004
|
NM_001395413.1(POR):c.34G>A (p.Val12Met)
|
rs369118442
|
0.00004
|
NM_001395413.1(POR):c.938+10G>A
|
rs781980999
|
0.00004
|
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln)
|
rs780348130
|
0.00004
|
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His)
|
rs199616806
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys)
|
rs183950022
|
0.00004
|
NM_013335.4(GMPPA):c.250C>A (p.Gln84Lys)
|
rs767718283
|
0.00004
|
NM_013335.4(GMPPA):c.280G>T (p.Gly94Cys)
|
rs753112469
|
0.00004
|
NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)
|
rs886049649
|
0.00004
|
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)
|
rs371658961
|
0.00004
|
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)
|
rs1459266876
|
0.00004
|
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys)
|
rs756550215
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys)
|
rs1040565692
|
0.00004
|
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)
|
rs1367396955
|
0.00004
|
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs)
|
rs759709148
|
0.00004
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)
|
rs367610523
|
0.00004
|
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
|
rs559573879
|
0.00004
|
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys)
|
rs375165169
|
0.00004
|
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
|
rs777617840
|
0.00004
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn)
|
rs745354512
|
0.00004
|
NM_021098.3(CACNA1H):c.3154+3G>A
|
rs374267602
|
0.00004
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg)
|
rs759262489
|
0.00004
|
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)
|
rs1002596641
|
0.00004
|
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)
|
rs758674093
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=)
|
rs747200195
|
0.00004
|
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln)
|
rs764530568
|
0.00004
|
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr)
|
rs931243903
|
0.00004
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val)
|
rs777667628
|
0.00004
|
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His)
|
rs774455553
|
0.00004
|
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln)
|
rs781126604
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His)
|
rs1458781875
|
0.00004
|
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser)
|
rs769175169
|
0.00004
|
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile)
|
rs535413428
|
0.00004
|
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser)
|
rs946594196
|
0.00004
|
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val)
|
rs371121613
|
0.00004
|
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)
|
rs747789914
|
0.00004
|
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)
|
rs372601783
|
0.00004
|
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp)
|
rs866836108
|
0.00004
|
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr)
|
rs761696834
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met)
|
rs772154386
|
0.00004
|
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)
|
rs768826048
|
0.00004
|
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile)
|
rs370867825
|
0.00004
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His)
|
rs371605781
|
0.00004
|
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)
|
rs766354453
|
0.00004
|
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
|
rs765987481
|
0.00003
|
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=)
|
rs146311005
|
0.00003
|
NM_000349.3(STAR):c.312T>C (p.Asn104=)
|
rs200934871
|
0.00003
|
NM_000497.4(CYP11B1):c.*1358T>C
|
rs886062734
|
0.00003
|
NM_000497.4(CYP11B1):c.244G>A (p.Asp82Asn)
|
rs762347776
|
0.00003
|
NM_000497.4(CYP11B1):c.395+6C>T
|
rs553707049
|
0.00003
|
NM_000497.4(CYP11B1):c.595+14G>A
|
rs1208266252
|
0.00003
|
NM_000498.3(CYP11B2):c.*204C>G
|
rs773811282
|
0.00003
|
NM_000498.3(CYP11B2):c.280C>T (p.Pro94Ser)
|
rs1374018568
|
0.00003
|
NM_000498.3(CYP11B2):c.800-14T>C
|
rs563246146
|
0.00003
|
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)
|
rs566306310
|
0.00003
|
NM_000500.9(CYP21A2):c.293-7C>G
|
rs193922544
|
0.00003
|
NM_000500.9(CYP21A2):c.738+75C>T
|
rs1463196531
|
0.00003
|
NM_000529.2(MC2R):c.*1092G>A
|
rs886053625
|
0.00003
|
NM_000529.2(MC2R):c.*223T>C
|
rs369247895
|
0.00003
|
NM_000529.2(MC2R):c.*390A>G
|
rs749097541
|
0.00003
|
NM_000529.2(MC2R):c.*434T>C
|
rs886053647
|
0.00003
|
NM_000529.2(MC2R):c.*848A>T
|
rs766857800
|
0.00003
|
NM_000529.2(MC2R):c.*971G>C
|
rs1317072974
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)
|
rs892317617
|
0.00003
|
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)
|
rs143790141
|
0.00003
|
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp)
|
rs778735978
|
0.00003
|
NM_001395413.1(POR):c.*21C>A
|
rs782245884
|
0.00003
|
NM_001395413.1(POR):c.1176C>T (p.Tyr392=)
|
rs782192787
|
0.00003
|
NM_001395413.1(POR):c.1270C>T (p.Arg424Trp)
|
rs782197760
|
0.00003
|
NM_001395413.1(POR):c.162C>G (p.Phe54Leu)
|
rs927062544
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_001395413.1(POR):c.1660+5G>C
|
rs782407937
|
0.00003
|
NM_001395413.1(POR):c.205T>C (p.Phe69Leu)
|
rs782107314
|
0.00003
|
NM_001395413.1(POR):c.315C>T (p.Tyr105=)
|
rs782376709
|
0.00003
|
NM_001395413.1(POR):c.316G>A (p.Gly106Arg)
|
rs372623440
|
0.00003
|
NM_001395413.1(POR):c.560A>G (p.Tyr187Cys)
|
rs782681272
|
0.00003
|
NM_001395413.1(POR):c.821+2dup
|
rs886062440
|
0.00003
|
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln)
|
rs201349663
|
0.00003
|
NM_014825.3(URB1):c.*2725A>G
|
rs1001304261
|
0.00003
|
NM_015665.6(AAAS):c.307+13C>T
|
rs761242924
|
0.00003
|
NM_015665.6(AAAS):c.362C>T (p.Ala121Val)
|
rs201451157
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_015665.6(AAAS):c.667G>C (p.Asp223His)
|
rs141013947
|
0.00003
|
NM_015665.6(AAAS):c.819T>C (p.Asp273=)
|
rs149487112
|
0.00003
|
NM_015665.6(AAAS):c.894C>T (p.Asp298=)
|
rs199636211
|
0.00003
|
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)
|
rs760258010
|
0.00003
|
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser)
|
rs747036748
|
0.00003
|
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr)
|
rs747121461
|
0.00003
|
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met)
|
rs773952204
|
0.00003
|
NM_021098.3(CACNA1H):c.2451+4C>T
|
rs764605459
|
0.00003
|
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser)
|
rs547294711
|
0.00003
|
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys)
|
rs762653776
|
0.00003
|
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln)
|
rs748252386
|
0.00003
|
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met)
|
rs536557648
|
0.00003
|
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=)
|
rs761572907
|
0.00003
|
NM_021098.3(CACNA1H):c.2851G>A (p.Val951Met)
|
rs372479526
|
0.00003
|
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)
|
rs774136809
|
0.00003
|
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg)
|
rs748550409
|
0.00003
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)
|
rs775183925
|
0.00003
|
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala)
|
rs774661170
|
0.00003
|
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
|
rs150821225
|
0.00003
|
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)
|
rs753494538
|
0.00003
|
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu)
|
rs777795718
|
0.00003
|
NM_021098.3(CACNA1H):c.4038+5C>T
|
rs368592629
|
0.00003
|
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu)
|
rs775971172
|
0.00003
|
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
|
rs774773999
|
0.00003
|
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val)
|
rs772094785
|
0.00003
|
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp)
|
rs772769994
|
0.00003
|
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu)
|
rs1371741882
|
0.00003
|
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln)
|
rs560884609
|
0.00003
|
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp)
|
rs748925694
|
0.00003
|
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)
|
rs199669141
|
0.00003
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys)
|
rs771932368
|
0.00003
|
NM_021098.3(CACNA1H):c.5144G>A (p.Arg1715His)
|
rs371577290
|
0.00003
|
NM_021098.3(CACNA1H):c.5294C>T (p.Ala1765Val)
|
rs781759793
|
0.00003
|
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu)
|
rs774551478
|
0.00003
|
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=)
|
rs58835716
|
0.00003
|
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile)
|
rs748947682
|
0.00003
|
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn)
|
rs949519905
|
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.6262G>A (p.Gly2088Arg)
|
rs779925007
|
0.00003
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu)
|
rs780870706
|
0.00003
|
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
|
rs375586314
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr)
|
rs1231529131
|
0.00003
|
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=)
|
rs767962487
|
0.00002
|
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His)
|
rs746480412
|
0.00002
|
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp)
|
rs199919404
|
0.00002
|
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg)
|
rs587669956
|
0.00002
|
NM_000349.3(STAR):c.411C>T (p.Leu137=)
|
rs368559257
|
0.00002
|
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
|
rs1331812230
|
0.00002
|
NM_000497.4(CYP11B1):c.*1622C>T
|
rs543935807
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.623G>A (p.Arg208Gln)
|
rs200559974
|
0.00002
|
NM_000498.3(CYP11B2):c.*1047C>T
|
rs886062739
|
0.00002
|
NM_000498.3(CYP11B2):c.*746G>A
|
rs570202161
|
0.00002
|
NM_000498.3(CYP11B2):c.342G>A (p.Glu114=)
|
rs779683417
|
0.00002
|
NM_000498.3(CYP11B2):c.796T>G (p.Tyr266Asp)
|
rs779486718
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)
|
rs754816201
|
0.00002
|
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)
|
rs745968243
|
0.00002
|
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)
|
rs781011854
|
0.00002
|
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)
|
rs749202931
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys)
|
rs777592481
|
0.00002
|
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu)
|
rs758865477
|
0.00002
|
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys)
|
rs779080006
|
0.00002
|
NM_001395413.1(POR):c.-14+9T>C
|
rs1401114101
|
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.1396C>G (p.Pro466Ala)
|
rs558340290
|
0.00002
|
NM_001395413.1(POR):c.157G>A (p.Glu53Lys)
|
rs782151568
|
0.00002
|
NM_001395413.1(POR):c.1926C>T (p.Thr642=)
|
rs557596726
|
0.00002
|
NM_001395413.1(POR):c.1973C>T (p.Ala658Val)
|
rs782753228
|
0.00002
|
NM_001395413.1(POR):c.460G>A (p.Asp154Asn)
|
rs782422122
|
0.00002
|
NM_001395413.1(POR):c.572G>A (p.Arg191Gln)
|
rs769916309
|
0.00002
|
NM_001395413.1(POR):c.772G>A (p.Val258Met)
|
rs1371752607
|
0.00002
|
NM_001395413.1(POR):c.892C>T (p.Arg298Cys)
|
rs200097755
|
0.00002
|
NM_001395413.1(POR):c.893G>A (p.Arg298His)
|
rs782125318
|
0.00002
|
NM_001395413.1(POR):c.938G>C (p.Arg313Thr)
|
rs782572970
|
0.00002
|
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser)
|
rs184790106
|
0.00002
|
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)
|
rs781034991
|
0.00002
|
NM_006440.5(TXNRD2):c.417del (p.Asn140fs)
|
rs780054798
|
0.00002
|
NM_013335.4(GMPPA):c.1046G>A (p.Arg349His)
|
rs568570865
|
0.00002
|
NM_013335.4(GMPPA):c.535A>T (p.Ile179Phe)
|
rs1251641134
|
0.00002
|
NM_015665.6(AAAS):c.663C>G (p.Thr221=)
|
rs886049650
|
0.00002
|
NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)
|
rs779681475
|
0.00002
|
NM_021098.3(CACNA1H):c.1120-3C>T
|
rs559931034
|
0.00002
|
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile)
|
rs748551891
|
0.00002
|
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
|
rs757893642
|
0.00002
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)
|
rs774313309
|
0.00002
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
0.00002
|
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)
|
rs119454949
|
0.00002
|
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=)
|
rs1348188346
|
0.00002
|
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val)
|
rs1482408749
|
0.00002
|
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His)
|
rs1356449722
|
0.00002
|
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly)
|
rs1035103368
|
0.00002
|
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val)
|
rs1471872554
|
0.00002
|
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn)
|
rs751635916
|
0.00002
|
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala)
|
rs776860363
|
0.00002
|
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met)
|
rs769872866
|
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.3467G>A (p.Arg1156His)
|
rs369475886
|
0.00002
|
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)
|
rs375742212
|
0.00002
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
NM_021098.3(CACNA1H):c.3845+7C>T
|
rs371494399
|
0.00002
|
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys)
|
rs541678072
|
0.00002
|
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)
|
rs761199543
|
0.00002
|
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
|
rs776740325
|
0.00002
|
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val)
|
rs775456399
|
0.00002
|
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser)
|
rs368825972
|
0.00002
|
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe)
|
rs746834232
|
0.00002
|
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val)
|
rs371030255
|
0.00002
|
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)
|
rs1263557227
|
0.00002
|
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met)
|
rs778002223
|
0.00002
|
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln)
|
rs541249511
|
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.4906A>G (p.Met1636Val)
|
rs371096587
|
0.00002
|
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser)
|
rs759088401
|
0.00002
|
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met)
|
rs779872782
|
0.00002
|
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His)
|
rs3889063
|
0.00002
|
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe)
|
rs369220355
|
0.00002
|
NM_021098.3(CACNA1H):c.5795A>C (p.Tyr1932Ser)
|
rs917012995
|
0.00002
|
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile)
|
rs766939282
|
0.00002
|
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg)
|
rs563954985
|
0.00002
|
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)
|
rs372118811
|
0.00002
|
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His)
|
rs752385455
|
0.00002
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
0.00002
|
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
|
rs754398374
|
0.00002
|
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=)
|
rs770681199
|
0.00002
|
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
|
rs761083620
|
0.00002
|
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp)
|
rs770202267
|
0.00002
|
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)
|
rs778943919
|
0.00002
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)
|
rs372848579
|
0.00002
|
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)
|
rs774565789
|
0.00002
|
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)
|
rs377665479
|
0.00002
|
NM_178817.4(MRAP):c.-156C>T
|
rs886057001
|
0.00002
|
NM_178817.4(MRAP):c.-157G>A
|
rs886057000
|
0.00002
|
NM_000102.4(CYP17A1):c.*130C>T
|
rs886046665
|
0.00001
|
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp)
|
rs370973897
|
0.00001
|
NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val)
|
rs773015145
|
0.00001
|
NM_000198.4(HSD3B2):c.*411T>C
|
rs1651940686
|
0.00001
|
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
|
rs147383167
|
0.00001
|
NM_000198.4(HSD3B2):c.308-14C>A
|
rs750286630
|
0.00001
|
NM_000198.4(HSD3B2):c.308-9C>T
|
rs375047799
|
0.00001
|
NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=)
|
rs886045197
|
0.00001
|
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
|
rs929360018
|
0.00001
|
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=)
|
rs116728039
|
0.00001
|
NM_000349.2(STAR):c.-152G>A
|
rs1196346446
|
0.00001
|
NM_000349.3(STAR):c.*550A>C
|
rs1236012022
|
0.00001
|
NM_000349.3(STAR):c.792G>A (p.Gln264=)
|
rs1358166887
|
0.00001
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_000497.4(CYP11B1):c.*1313C>T
|
rs973876982
|
0.00001
|
NM_000497.4(CYP11B1):c.*1476G>C
|
rs1325854085
|
0.00001
|
NM_000497.4(CYP11B1):c.*245C>G
|
rs538608688
|
0.00001
|
NM_000497.4(CYP11B1):c.*495C>T
|
rs886062736
|
0.00001
|
NM_000497.4(CYP11B1):c.*607C>T
|
rs1816856226
|
0.00001
|
NM_000497.4(CYP11B1):c.*901G>A
|
rs748103274
|
0.00001
|
NM_000497.4(CYP11B1):c.107T>G (p.Leu36Arg)
|
rs755448048
|
0.00001
|
NM_000497.4(CYP11B1):c.1090T>C (p.Leu364=)
|
rs754660381
|
0.00001
|
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg)
|
rs1412048304
|
0.00001
|
NM_000497.4(CYP11B1):c.1200+11C>T
|
rs753651666
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.206A>G (p.His69Arg)
|
rs747287245
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.263T>C (p.Met88Thr)
|
rs1817062027
|
0.00001
|
NM_000497.4(CYP11B1):c.346T>G (p.Trp116Gly)
|
rs772733691
|
0.00001
|
NM_000497.4(CYP11B1):c.374A>G (p.His125Arg)
|
rs757389720
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)
|
rs748180875
|
0.00001
|
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)
|
rs751047685
|
0.00001
|
NM_000498.3(CYP11B2):c.*1277G>A
|
rs745532151
|
0.00001
|
NM_000498.3(CYP11B2):c.*431A>C
|
rs886062742
|
0.00001
|
NM_000498.3(CYP11B2):c.*613C>T
|
rs61757284
|
0.00001
|
NM_000498.3(CYP11B2):c.*759A>T
|
rs1035340238
|
0.00001
|
NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val)
|
rs1817560561
|
0.00001
|
NM_000498.3(CYP11B2):c.1343G>A (p.Arg448His)
|
rs1311444460
|
0.00001
|
NM_000498.3(CYP11B2):c.157C>T (p.Leu53=)
|
rs747248100
|
0.00001
|
NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu)
|
rs768685630
|
0.00001
|
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)
|
rs574370139
|
0.00001
|
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly)
|
rs1436972952
|
0.00001
|
NM_000500.9(CYP21A2):c.293-131_293-129dup
|
rs1219292422
|
0.00001
|
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys)
|
rs371412889
|
0.00001
|
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly)
|
rs1229809778
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val)
|
rs746303150
|
0.00001
|
NM_000529.2(MC2R):c.*1856T>C
|
rs935635102
|
0.00001
|
NM_000529.2(MC2R):c.*2409A>G
|
rs893851558
|
0.00001
|
NM_000529.2(MC2R):c.*2427T>C
|
rs2045235792
|
0.00001
|
NM_000529.2(MC2R):c.*27C>T
|
rs886053650
|
0.00001
|
NM_000529.2(MC2R):c.*608A>G
|
rs886053645
|
0.00001
|
NM_000529.2(MC2R):c.*791A>G
|
rs754283731
|
0.00001
|
NM_000529.2(MC2R):c.403G>A (p.Ala135Thr)
|
rs764887426
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
0.00001
|
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000890.5(KCNJ5):c.*1024A>G
|
rs886048018
|
0.00001
|
NM_000890.5(KCNJ5):c.*284G>A
|
rs1423304633
|
0.00001
|
NM_000890.5(KCNJ5):c.*650C>T
|
rs77985687
|
0.00001
|
NM_000890.5(KCNJ5):c.-145C>T
|
rs1460747444
|
0.00001
|
NM_000890.5(KCNJ5):c.-253G>T
|
rs886048009
|
0.00001
|
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)
|
rs766058202
|
0.00001
|
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)
|
rs185412918
|
0.00001
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)
|
rs781022847
|
0.00001
|
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn)
|
rs752310426
|
0.00001
|
NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly)
|
rs753651100
|
0.00001
|
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)
|
rs771161358
|
0.00001
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)
|
rs746522890
|
0.00001
|
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)
|
rs772877248
|
0.00001
|
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)
|
rs746240972
|
0.00001
|
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)
|
rs886048010
|
0.00001
|
NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln)
|
rs1418258797
|
0.00001
|
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala)
|
rs935163999
|
0.00001
|
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val)
|
rs2094940956
|
0.00001
|
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val)
|
rs775056182
|
0.00001
|
NM_001128840.3(CACNA1D):c.3413T>C (p.Ile1138Thr)
|
rs146540139
|
0.00001
|
NM_001128840.3(CACNA1D):c.4924-6A>G
|
rs1475661078
|
0.00001
|
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg)
|
rs1176833638
|
0.00001
|
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala)
|
rs145573139
|
0.00001
|
NM_001379228.1(MRAP):c.126C>T (p.Phe42=)
|
rs769898813
|
0.00001
|
NM_001395413.1(POR):c.1033G>A (p.Val345Ile)
|
rs373128937
|
0.00001
|
NM_001395413.1(POR):c.103G>A (p.Val35Met)
|
rs782469484
|
0.00001
|
NM_001395413.1(POR):c.1057+3G>A
|
rs1247013812
|
0.00001
|
NM_001395413.1(POR):c.1152C>T (p.Asn384=)
|
rs1554558784
|
0.00001
|
NM_001395413.1(POR):c.1222T>G (p.Ser408Ala)
|
rs781842238
|
0.00001
|
NM_001395413.1(POR):c.1256G>T (p.Trp419Leu)
|
rs1419019194
|
0.00001
|
NM_001395413.1(POR):c.1375G>A (p.Ala459Thr)
|
rs72557936
|
0.00001
|
NM_001395413.1(POR):c.1526T>C (p.Val509Ala)
|
rs1789403650
|
0.00001
|
NM_001395413.1(POR):c.1585A>G (p.Ile529Val)
|
rs886062442
|
0.00001
|
NM_001395413.1(POR):c.160T>C (p.Phe54Leu)
|
rs782711779
|
0.00001
|
NM_001395413.1(POR):c.163A>G (p.Thr55Ala)
|
rs781793249
|
0.00001
|
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu)
|
rs370645073
|
0.00001
|
NM_001395413.1(POR):c.1726C>T (p.Arg576Trp)
|
rs868927799
|
0.00001
|
NM_001395413.1(POR):c.182C>T (p.Thr61Ile)
|
rs868909994
|
0.00001
|
NM_001395413.1(POR):c.1959G>T (p.Met653Ile)
|
rs377283521
|
0.00001
|
NM_001395413.1(POR):c.1962G>C (p.Glu654Asp)
|
rs371420725
|
0.00001
|
NM_001395413.1(POR):c.1991A>C (p.Lys664Thr)
|
rs782588164
|
0.00001
|
NM_001395413.1(POR):c.251A>G (p.Tyr84Cys)
|
rs1047228872
|
0.00001
|
NM_001395413.1(POR):c.301G>A (p.Asp101Asn)
|
rs958254199
|
0.00001
|
NM_001395413.1(POR):c.484G>T (p.Asp162Tyr)
|
rs1003447223
|
0.00001
|
NM_001395413.1(POR):c.754G>A (p.Asp252Asn)
|
rs41299514
|
0.00001
|
NM_001395413.1(POR):c.764C>T (p.Ala255Val)
|
rs367782552
|
0.00001
|
NM_001395413.1(POR):c.821+15C>T
|
rs540000393
|
0.00001
|
NM_001395413.1(POR):c.821C>T (p.Pro274Leu)
|
rs369749344
|
0.00001
|
NM_001395413.1(POR):c.938+3A>G
|
rs782232516
|
0.00001
|
NM_001395413.1(POR):c.967T>C (p.Tyr323His)
|
rs782419727
|
0.00001
|
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His)
|
rs1303886490
|
0.00001
|
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val)
|
rs755134167
|
0.00001
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
NM_013335.4(GMPPA):c.1052C>T (p.Ala351Val)
|
rs750437487
|
0.00001
|
NM_013335.4(GMPPA):c.799G>A (p.Asp267Asn)
|
rs1382726525
|
0.00001
|
NM_014825.3(URB1):c.*2741C>T
|
rs1601112595
|
0.00001
|
NM_014825.3(URB1):c.*2908A>T
|
rs201141721
|
0.00001
|
NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)
|
rs886049652
|
0.00001
|
NM_015665.6(AAAS):c.1229G>A (p.Arg410His)
|
rs768786904
|
0.00001
|
NM_015665.6(AAAS):c.124-4A>G
|
rs886049651
|
0.00001
|
NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)
|
rs751369041
|
0.00001
|
NM_015665.6(AAAS):c.1417-14T>G
|
rs748004231
|
0.00001
|
NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)
|
rs751967235
|
0.00001
|
NM_015665.6(AAAS):c.721C>T (p.His241Tyr)
|
rs1944356188
|
0.00001
|
NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)
|
rs1745022731
|
0.00001
|
NM_015665.6(AAAS):c.981A>G (p.Leu327=)
|
rs1174765635
|
0.00001
|
NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)
|
rs560069464
|
0.00001
|
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys)
|
rs757422637
|
0.00001
|
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu)
|
rs1383967941
|
0.00001
|
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val)
|
rs751513581
|
0.00001
|
NM_021098.3(CACNA1H):c.1245G>A (p.Leu415=)
|
rs1399878445
|
0.00001
|
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys)
|
rs746748953
|
0.00001
|
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala)
|
rs1555498163
|
0.00001
|
NM_021098.3(CACNA1H):c.1457G>T (p.Trp486Leu)
|
rs1967973162
|
0.00001
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln)
|
rs777448598
|
0.00001
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr)
|
rs61747577
|
0.00001
|
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu)
|
rs1428939766
|
0.00001
|
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser)
|
rs750987846
|
0.00001
|
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg)
|
rs566589497
|
0.00001
|
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
|
rs1596270983
|
0.00001
|
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile)
|
rs1030011973
|
0.00001
|
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val)
|
rs747987613
|
0.00001
|
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg)
|
rs1466381514
|
0.00001
|
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile)
|
rs1567519932
|
0.00001
|
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
|
rs757946905
|
0.00001
|
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu)
|
rs540638287
|
0.00001
|
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met)
|
rs1473122688
|
0.00001
|
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys)
|
rs183042575
|
0.00001
|
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=)
|
rs777762276
|
0.00001
|
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val)
|
rs1216897674
|
0.00001
|
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val)
|
rs781441262
|
0.00001
|
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val)
|
rs772602372
|
0.00001
|
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=)
|
rs572841580
|
0.00001
|
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp)
|
rs760796226
|
0.00001
|
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala)
|
rs1051410307
|
0.00001
|
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn)
|
rs1386150404
|
0.00001
|
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val)
|
rs906645609
|
0.00001
|
NM_021098.3(CACNA1H):c.2603+3G>A
|
rs773966897
|
0.00001
|
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val)
|
rs770827490
|
0.00001
|
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His)
|
rs763861676
|
0.00001
|
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys)
|
rs1446439397
|
0.00001
|
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys)
|
rs1047092055
|
0.00001
|
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser)
|
rs1336532564
|
0.00001
|
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)
|
rs779011503
|
0.00001
|
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His)
|
rs1057520721
|
0.00001
|
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser)
|
rs769647241
|
0.00001
|
NM_021098.3(CACNA1H):c.2817C>T (p.Cys939=)
|
rs1336280254
|
0.00001
|
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr)
|
rs1012165881
|
0.00001
|
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met)
|
rs1489760070
|
0.00001
|
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys)
|
rs1266233731
|
0.00001
|
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser)
|
rs1968852331
|
0.00001
|
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met)
|
rs376957651
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-19T>A
|
rs1322960336
|
0.00001
|
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)
|
rs575176246
|
0.00001
|
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys)
|
rs970648879
|
0.00001
|
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=)
|
rs1044744061
|
0.00001
|
NM_021098.3(CACNA1H):c.3154+5G>A
|
rs764360814
|
0.00001
|
NM_021098.3(CACNA1H):c.3170C>T (p.Ser1057Phe)
|
rs1435560643
|
0.00001
|
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter)
|
rs780350191
|
0.00001
|
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val)
|
rs1238128692
|
0.00001
|
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr)
|
rs373102061
|
0.00001
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg)
|
rs1431381776
|
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.3508G>A (p.Glu1170Lys)
|
rs766406727
|
0.00001
|
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
|
rs778186545
|
0.00001
|
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys)
|
rs761063520
|
0.00001
|
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)
|
rs1399681066
|
0.00001
|
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln)
|
rs201931839
|
0.00001
|
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn)
|
rs771215852
|
0.00001
|
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn)
|
rs768716174
|
0.00001
|
NM_021098.3(CACNA1H):c.3744+1G>A
|
rs770718464
|
0.00001
|
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp)
|
rs751642419
|
0.00001
|
NM_021098.3(CACNA1H):c.3885G>A (p.Met1295Ile)
|
rs1410255453
|
0.00001
|
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe)
|
rs1969297546
|
0.00001
|
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala)
|
rs1043239667
|
0.00001
|
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
|
rs1172795132
|
0.00001
|
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala)
|
rs1373335448
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+4C>T
|
rs1207045890
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+6G>A
|
rs112068805
|
0.00001
|
NM_021098.3(CACNA1H):c.4061C>T (p.Ser1354Phe)
|
rs754994425
|
0.00001
|
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)
|
rs747715176
|
0.00001
|
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
|
rs772929276
|
0.00001
|
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr)
|
rs764727820
|
0.00001
|
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)
|
rs867556563
|
0.00001
|
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu)
|
rs372465607
|
0.00001
|
NM_021098.3(CACNA1H):c.4154C>T (p.Ser1385Leu)
|
rs773333921
|
0.00001
|
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=)
|
rs535299188
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys)
|
rs374596109
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+5G>A
|
rs776869097
|
0.00001
|
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe)
|
rs776156272
|
0.00001
|
NM_021098.3(CACNA1H):c.4303C>T (p.Leu1435Phe)
|
rs762016050
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+3G>A
|
rs1969415717
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+6T>C
|
rs367545564
|
0.00001
|
NM_021098.3(CACNA1H):c.4376G>T (p.Cys1459Phe)
|
rs1403664698
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu)
|
rs536269517
|
0.00001
|
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met)
|
rs758872935
|
0.00001
|
NM_021098.3(CACNA1H):c.4566+4C>T
|
rs199968897
|
0.00001
|
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile)
|
rs745495784
|
0.00001
|
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr)
|
rs1195869438
|
0.00001
|
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln)
|
rs538666649
|
0.00001
|
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg)
|
rs748978718
|
0.00001
|
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp)
|
rs58725680
|
0.00001
|
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln)
|
rs1343159534
|
0.00001
|
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys)
|
rs777159526
|
0.00001
|
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His)
|
rs774569737
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-2A>G
|
rs1468821137
|
0.00001
|
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)
|
rs761945003
|
0.00001
|
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr)
|
rs776165690
|
0.00001
|
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile)
|
rs1015123563
|
0.00001
|
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser)
|
rs1381765830
|
0.00001
|
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr)
|
rs577258290
|
0.00001
|
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp)
|
rs1217478571
|
0.00001
|
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu)
|
rs766396848
|
0.00001
|
NM_021098.3(CACNA1H):c.4929+5G>A
|
rs1054400971
|
0.00001
|
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu)
|
rs745902196
|
0.00001
|
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu)
|
rs751816236
|
0.00001
|
NM_021098.3(CACNA1H):c.5059G>A (p.Ala1687Thr)
|
rs374276829
|
0.00001
|
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met)
|
rs754276994
|
0.00001
|
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met)
|
rs556827361
|
0.00001
|
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys)
|
rs545768453
|
0.00001
|
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His)
|
rs375691821
|
0.00001
|
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met)
|
rs768128693
|
0.00001
|
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys)
|
rs771688999
|
0.00001
|
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His)
|
rs1025818671
|
0.00001
|
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met)
|
rs764098313
|
0.00001
|
NM_021098.3(CACNA1H):c.5267T>C (p.Phe1756Ser)
|
rs767973097
|
0.00001
|
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys)
|
rs767277197
|
0.00001
|
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=)
|
rs776172409
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-10C>G
|
rs1184041228
|
0.00001
|
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys)
|
rs768988866
|
0.00001
|
NM_021098.3(CACNA1H):c.547A>C (p.Met183Leu)
|
rs763029586
|
0.00001
|
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg)
|
rs1970204449
|
0.00001
|
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val)
|
rs773943668
|
0.00001
|
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val)
|
rs369689966
|
0.00001
|
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val)
|
rs139080716
|
0.00001
|
NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg)
|
rs1196939283
|
0.00001
|
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)
|
rs754166849
|
0.00001
|
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
|
rs1175867441
|
0.00001
|
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
|
rs769441475
|
0.00001
|
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp)
|
rs772374857
|
0.00001
|
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
|
rs921830082
|
0.00001
|
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)
|
rs1312406661
|
0.00001
|
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu)
|
rs1483742539
|
0.00001
|
NM_021098.3(CACNA1H):c.6064G>A (p.Asp2022Asn)
|
rs372375376
|
0.00001
|
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val)
|
rs1387716276
|
0.00001
|
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)
|
rs1199118621
|
0.00001
|
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys)
|
rs758461760
|
0.00001
|
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg)
|
rs541001877
|
0.00001
|
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr)
|
rs570207081
|
0.00001
|
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys)
|
rs778743259
|
0.00001
|
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile)
|
rs756344458
|
0.00001
|
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val)
|
rs778892614
|
0.00001
|
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp)
|
rs772416042
|
0.00001
|
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln)
|
rs776993441
|
0.00001
|
NM_021098.3(CACNA1H):c.6422A>G (p.Gln2141Arg)
|
rs772532983
|
0.00001
|
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala)
|
rs1348390859
|
0.00001
|
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser)
|
rs746807446
|
0.00001
|
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys)
|
rs1456584884
|
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.6709G>C (p.Gly2237Arg)
|
rs899655295
|
0.00001
|
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His)
|
rs554435610
|
0.00001
|
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu)
|
rs766207096
|
0.00001
|
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala)
|
rs1970426309
|
0.00001
|
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg)
|
rs771028729
|
0.00001
|
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)
|
rs753077813
|
0.00001
|
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp)
|
rs1201268826
|
0.00001
|
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
|
rs1418372954
|
0.00001
|
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val)
|
rs776274017
|
0.00001
|
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser)
|
rs774687054
|
0.00001
|
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser)
|
rs751311855
|
0.00001
|
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
|
rs1240507435
|
0.00001
|
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)
|
rs119454948
|
0.00001
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)
|
rs1443348691
|
0.00001
|
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr)
|
rs1967689942
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)
|
rs57740463
|
0.00001
|
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)
|
rs758039020
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
NC_000002.11:g.(?_218999525)_(220435954_?)dup
|
|
|
NC_000007.14:g.75915138G>C
|
rs535395573
|
|
NC_000016.10:g.(?_1194952)_(1221014_?)dup
|
|
|
NC_000016.10:g.(?_1214952)_(1221014_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1204056_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1260155_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1246043_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1256309_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1244962)_(1260981_?)dup
|
|
|
NC_000016.9:g.(?_1244962)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1248595)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1248605)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1251643)_(1255285_?)del
|
|
|
NC_000016.9:g.(?_1264952)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_256302)_(1843653_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2153916_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_765584)_(1204036_?)del
|
|
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
NM_000051.4(ATM):c.1837_1839del (p.Val613del)
|
rs2135353566
|
|
NM_000102.4(CYP17A1):c.*165dup
|
rs45455494
|
|
NM_000102.4(CYP17A1):c.*67C>A
|
rs886046666
|
|
NM_000102.4(CYP17A1):c.-30dup
|
rs886046667
|
|
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=)
|
rs752346898
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)
|
rs772903405
|
|
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)
|
|
|
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val)
|
rs138630127
|
|
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys)
|
rs746813353
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)
|
rs539435111
|
|
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=)
|
rs1844174531
|
|
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met)
|
rs931528592
|
|
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn)
|
rs370973897
|
|
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
|
|
|
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=)
|
rs1844146929
|
|
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)
|
rs1485258085
|
|
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
|
rs202092158
|
|
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg)
|
rs121913474
|
|
NM_000179.3(MSH6):c.3644T>A (p.Leu1215Ter)
|
rs2104526529
|
|
NM_000198.4(HSD3B2):c.*9T>A
|
rs1651924447
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)
|
rs781770416
|
|
NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)
|
|
|
NM_000198.4(HSD3B2):c.295G>T (p.Val99Phe)
|
|
|
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp)
|
rs886045196
|
|
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
|
rs114527791
|
|
NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)
|
|
|
NM_000198.4(HSD3B2):c.563A>G (p.Tyr188Cys)
|
|
|
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
|
|
|
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg)
|
rs771688849
|
|
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)
|
rs886039394
|
|
NM_000249.4(MLH1):c.884G>T (p.Ser295Ile)
|
rs63750144
|
|
NM_000349.2(STAR):c.-249C>A
|
rs886062906
|
|
NM_000349.3(STAR):c.*1384del
|
rs886062898
|
|
NM_000349.3(STAR):c.*348C>T
|
rs886062904
|
|
NM_000349.3(STAR):c.*556A>G
|
rs886062903
|
|
NM_000349.3(STAR):c.*768G>A
|
rs1802503995
|
|
NM_000349.3(STAR):c.*796A>G
|
rs886062902
|
|
NM_000349.3(STAR):c.*948del
|
rs886062900
|
|
NM_000349.3(STAR):c.*965_*967dup
|
rs11326306
|
|
NM_000349.3(STAR):c.-16C>T
|
rs779983468
|
|
NM_000349.3(STAR):c.120G>A (p.Leu40=)
|
rs138786388
|
|
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del)
|
rs1554503018
|
|
NM_000349.3(STAR):c.157C>G (p.Arg53Gly)
|
rs550388651
|
|
NM_000349.3(STAR):c.158G>C (p.Arg53Pro)
|
rs529036391
|
|
NM_000349.3(STAR):c.161G>T (p.Arg54Leu)
|
rs200245763
|
|
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del)
|
rs146872295
|
|
NM_000349.3(STAR):c.466-11T>A
|
rs1053284504
|
|
NM_000349.3(STAR):c.484A>C (p.Lys162Gln)
|
rs886062905
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
|
|
|
NM_000349.3(STAR):c.814C>G (p.Arg272Gly)
|
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
|
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
NM_000475.5(NR0B1):c.129C>A (p.Cys43Ter)
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.881T>C (p.Leu294Pro)
|
rs2147006470
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
NM_000489.6(ATRX):c.3904del (p.Arg1302fs)
|
rs2148497062
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
NM_000497.4(CYP11B1):c.*1012A>C
|
rs1816847260
|
|
NM_000497.4(CYP11B1):c.*1164G>A
|
rs886062735
|
|
NM_000497.4(CYP11B1):c.*1253G>T
|
rs1816842907
|
|
NM_000497.4(CYP11B1):c.*1296A>G
|
rs1816841780
|
|
NM_000497.4(CYP11B1):c.*1511C>T
|
rs1033272486
|
|
NM_000497.4(CYP11B1):c.*1550C>T
|
rs1425377435
|
|
NM_000497.4(CYP11B1):c.*1590G>C
|
rs886062733
|
|
NM_000497.4(CYP11B1):c.*1623G>C
|
rs997960869
|
|
NM_000497.4(CYP11B1):c.*1770A>T
|
rs369448045
|
|
NM_000497.4(CYP11B1):c.*1929A>C
|
rs201626683
|
|
NM_000497.4(CYP11B1):c.*1944G>A
|
rs1816825330
|
|
NM_000497.4(CYP11B1):c.*1979G>A
|
rs1039347990
|
|
NM_000497.4(CYP11B1):c.*244C>T
|
rs1816862781
|
|
NM_000497.4(CYP11B1):c.*317T>C
|
rs567623158
|
|
NM_000497.4(CYP11B1):c.*390A>G
|
rs558749828
|
|
NM_000497.4(CYP11B1):c.*400C>T
|
rs61752801
|
|
NM_000497.4(CYP11B1):c.*485C>G
|
rs886062737
|
|
NM_000497.4(CYP11B1):c.*516A>T
|
rs5301
|
|
NM_000497.4(CYP11B1):c.*596C>A
|
rs1816856315
|
|
NM_000497.4(CYP11B1):c.*848C>T
|
rs149520110
|
|
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile)
|
rs193922535
|
|
NM_000497.4(CYP11B1):c.1027G>A (p.Glu343Lys)
|
rs1554652796
|
|
NM_000497.4(CYP11B1):c.1112A>G (p.Glu371Gly)
|
rs368944209
|
|
NM_000497.4(CYP11B1):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000497.4(CYP11B1):c.1157C>A (p.Ala386Glu)
|
rs4541
|
|
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser)
|
rs886062738
|
|
NM_000497.4(CYP11B1):c.1240C>G (p.Pro414Ala)
|
|
|
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His)
|
rs754432887
|
|
NM_000497.4(CYP11B1):c.1385del (p.Leu462fs)
|
rs2130266058
|
|
NM_000497.4(CYP11B1):c.1399-14G>A
|
rs5295
|
|
NM_000497.4(CYP11B1):c.1486del (p.Leu496fs)
|
rs1554652528
|
|
NM_000497.4(CYP11B1):c.1488C>T (p.Leu496=)
|
rs776766470
|
|
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala)
|
rs1554653718
|
|
NM_000497.4(CYP11B1):c.334A>C (p.Ser112Arg)
|
rs770400476
|
|
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met)
|
rs377423817
|
|
NM_000497.4(CYP11B1):c.399T>A (p.Asn133Lys)
|
|
|
NM_000497.4(CYP11B1):c.446T>C (p.Leu149Pro)
|
rs1554653200
|
|
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)
|
rs778556211
|
|
NM_000497.4(CYP11B1):c.473T>C (p.Leu158Pro)
|
rs1554653191
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)
|
rs535861895
|
|
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro)
|
rs146105017
|
|
NM_000497.4(CYP11B1):c.606G>A (p.Leu202=)
|
rs61751154
|
|
NM_000497.4(CYP11B1):c.623G>C (p.Arg208Pro)
|
|
|
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)
|
rs368125568
|
|
NM_000497.4(CYP11B1):c.632_640del (p.Leu211_Gly213del)
|
rs1554653044
|
|
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)
|
rs1816964007
|
|
NM_000497.4(CYP11B1):c.748C>A (p.Pro250Thr)
|
|
|
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)
|
rs753471858
|
|
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr)
|
rs1816963218
|
|
NM_000497.4(CYP11B1):c.842G>A (p.Ser281Asn)
|
|
|
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)
|
rs202091168
|
|
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)
|
rs751843934
|
|
NM_000497.4(CYP11B1):c.930A>T (p.Glu310Asp)
|
|
|
NM_000497.4(CYP11B1):c.954+31G>A
|
rs2130272862
|
|
NM_000497.4(CYP11B1):c.954+9G>C
|
rs6411
|
|
NM_000497.4(CYP11B1):c.955-15_955-1del
|
rs1554652823
|
|
NM_000498.3(CYP11B2):c.*25A>C
|
rs1817542488
|
|
NM_000498.3(CYP11B2):c.*298C>A
|
rs1380755213
|
|
NM_000498.3(CYP11B2):c.*591T>G
|
rs1817531890
|
|
NM_000498.3(CYP11B2):c.*743C>T
|
rs886062741
|
|
NM_000498.3(CYP11B2):c.*876C>A
|
rs1817525452
|
|
NM_000498.3(CYP11B2):c.*972C>G
|
rs886062740
|
|
NM_000498.3(CYP11B2):c.1136G>T (p.Gly379Val)
|
rs1409744694
|
|
NM_000498.3(CYP11B2):c.1201-9C>G
|
rs750931398
|
|
NM_000498.3(CYP11B2):c.1398+10C>T
|
rs1817553996
|
|
NM_000498.3(CYP11B2):c.1441A>T (p.Ile481Leu)
|
rs1817545728
|
|
NM_000498.3(CYP11B2):c.1454A>G (p.Tyr485Cys)
|
rs1817545422
|
|
NM_000498.3(CYP11B2):c.591A>G (p.Ile197Met)
|
rs886062744
|
|
NM_000498.3(CYP11B2):c.595+15G>T
|
rs886062743
|
|
NM_000498.3(CYP11B2):c.924T>C (p.Ser308=)
|
rs764640232
|
|
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
|
|
|
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro)
|
rs760216630
|
|
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro)
|
rs574370139
|
|
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)
|
rs2151875445
|
|
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro)
|
rs376421504
|
|
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr)
|
rs528524868
|
|
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His)
|
rs1582311004
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly)
|
rs1451687726
|
|
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser)
|
rs2151876037
|
|
NM_000500.9(CYP21A2):c.1223-3C>G
|
rs6460
|
|
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg)
|
rs751456004
|
|
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu)
|
rs1257180779
|
|
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg)
|
rs1240539721
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr)
|
rs776989258
|
|
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser)
|
rs1185350916
|
|
NM_000500.9(CYP21A2):c.292+3A>G
|
rs752771213
|
|
NM_000500.9(CYP21A2):c.293-100_293-99insG
|
rs1582301904
|
|
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
|
|
|
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val)
|
rs1582304416
|
|
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)
|
rs1582304441
|
|
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
|
|
|
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu)
|
rs1185695713
|
|
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu)
|
rs777946906
|
|
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val)
|
rs1582306855
|
|
NM_000500.9(CYP21A2):c.738+12_738+13inv
|
|
|
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=)
|
rs1441177352
|
|
NM_000500.9(CYP21A2):c.739-74G>A
|
rs1582307366
|
|
NM_000500.9(CYP21A2):c.740del (p.Glu247fs)
|
rs750499484
|
|
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys)
|
rs2151874388
|
|
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)
|
rs570785206
|
|
NM_000529.2(MC2R):c.*1010T>A
|
rs886053633
|
|
NM_000529.2(MC2R):c.*1012T>A
|
rs886053632
|
|
NM_000529.2(MC2R):c.*1035G>A
|
rs2045247559
|
|
NM_000529.2(MC2R):c.*1043G>A
|
rs1007872828
|
|
NM_000529.2(MC2R):c.*1068A>G
|
rs1053713890
|
|
NM_000529.2(MC2R):c.*1265A>C
|
rs886053624
|
|
NM_000529.2(MC2R):c.*1469A>G
|
rs1258255213
|
|
NM_000529.2(MC2R):c.*1667G>A
|
rs886053621
|
|
NM_000529.2(MC2R):c.*1917C>A
|
rs1005290429
|
|
NM_000529.2(MC2R):c.*2572G>A
|
rs2045234534
|
|
NM_000529.2(MC2R):c.*376G>C
|
rs886053649
|
|
NM_000529.2(MC2R):c.*470G>A
|
rs886053646
|
|
NM_000529.2(MC2R):c.*471C>A
|
rs142527936
|
|
NM_000529.2(MC2R):c.*862T>C
|
rs886053644
|
|
NM_000529.2(MC2R):c.*957C>G
|
rs1053257976
|
|
NM_000529.2(MC2R):c.-117A>T
|
rs886053652
|
|
NM_000529.2(MC2R):c.-48T>C
|
rs559902243
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.409C>A (p.Arg137=)
|
rs104894660
|
|
NM_000529.2(MC2R):c.524T>A (p.Val175Glu)
|
rs886053651
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
NM_000529.2(MC2R):c.666C>G (p.Thr222=)
|
rs1401738616
|
|
NM_000546.6(TP53):c.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
NM_000546.6(TP53):c.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_000890.5(KCNJ5):c.*103G>C
|
rs886048012
|
|
NM_000890.5(KCNJ5):c.*1090C>T
|
rs958122055
|
|
NM_000890.5(KCNJ5):c.*1151C>T
|
rs886048019
|
|
NM_000890.5(KCNJ5):c.*1323del
|
rs886048020
|
|
NM_000890.5(KCNJ5):c.*200C>A
|
rs756204980
|
|
NM_000890.5(KCNJ5):c.*228G>T
|
rs886048013
|
|
NM_000890.5(KCNJ5):c.*667C>T
|
rs886048014
|
|
NM_000890.5(KCNJ5):c.*747A>G
|
rs886048015
|
|
NM_000890.5(KCNJ5):c.*861GTTTT[8]
|
rs36205004
|
|
NM_000890.5(KCNJ5):c.*936C>G
|
rs77525858
|
|
NM_000890.5(KCNJ5):c.*978T>G
|
rs886048017
|
|
NM_000890.5(KCNJ5):c.-213G>A
|
rs1944091343
|
|
NM_000890.5(KCNJ5):c.-258_-255del
|
rs886048008
|
|
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA
|
rs886048005
|
|
NM_000890.5(KCNJ5):c.-287G>C
|
rs868130049
|
|
NM_000890.5(KCNJ5):c.-289GA[18]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-289GA[19]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-289GA[20]
|
rs71057905
|
|
NM_000890.5(KCNJ5):c.-291C>G
|
rs10893931
|
|
NM_000890.5(KCNJ5):c.-291GA[3]
|
rs886048000
|
|
NM_000890.5(KCNJ5):c.-291_-286del
|
rs886048002
|
|
NM_000890.5(KCNJ5):c.-291_-288del
|
rs886048001
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG
|
rs886048003
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG
|
rs886048003
|
|
NM_000890.5(KCNJ5):c.-293GA[3]
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-293GA[4]
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-293_-288del
|
rs886047997
|
|
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA
|
rs886047999
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
NM_000890.5(KCNJ5):c.-294_-293insGAGA
|
rs886047996
|
|
NM_000890.5(KCNJ5):c.-295GA[3]
|
rs886047994
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047995
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG
|
rs886047993
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047993
|
|
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG
|
rs886047992
|
|
NM_000890.5(KCNJ5):c.-301C>G
|
rs868416561
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG
|
rs886047990
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047988
|
|
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG
|
rs886047987
|
|
NM_000890.5(KCNJ5):c.-333CA[24]
|
rs113761140
|
|
NM_000890.5(KCNJ5):c.-9A>C
|
rs752992023
|
|
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)
|
rs930047035
|
|
NM_000890.5(KCNJ5):c.435G>A (p.Glu145=)
|
rs1944503011
|
|
NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys)
|
rs1944503932
|
|
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)
|
rs886048011
|
|
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln)
|
rs1193226150
|
|
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro)
|
rs2108724010
|
|
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile)
|
rs2094998922
|
|
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu)
|
rs142057539
|
|
NM_001128840.3(CACNA1D):c.3119A>G (p.Lys1040Arg)
|
|
|
NM_001128840.3(CACNA1D):c.3455T>C (p.Ile1152Thr)
|
rs2108865550
|
|
NM_001128840.3(CACNA1D):c.484-53385T>G
|
rs2107845171
|
|
NM_001128840.3(CACNA1D):c.4863A>T (p.Lys1621Asn)
|
rs2109109769
|
|
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
|
|
|
NM_001128840.3(CACNA1D):c.5203T>G (p.Ser1735Ala)
|
|
|
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys)
|
rs1559716901
|
|
NM_001128840.3(CACNA1D):c.5587C>T (p.Gln1863Ter)
|
rs528674015
|
|
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp)
|
rs2095587946
|
|
NM_001128840.3(CACNA1D):c.6115G>C (p.Ala2039Pro)
|
|
|
NM_001128840.3(CACNA1D):c.6279C>A (p.Asp2093Glu)
|
|
|
NM_001128840.3(CACNA1D):c.6286A>G (p.Ile2096Val)
|
|
|
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln)
|
rs2094189629
|
|
NM_001128840.3(CACNA1D):c.971G>A (p.Arg324His)
|
rs1186152619
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001374828.1(ARID1B):c.4453C>T (p.Gln1485Ter)
|
rs2128366503
|
|
NM_001379228.1(MRAP):c.107-5C>T
|
rs373512270
|
|
NM_001379228.1(MRAP):c.206+13G>C
|
rs749474036
|
|
NM_001379228.1(MRAP):c.451G>A (p.Gly151Ser)
|
rs773835535
|
|
NM_001395413.1(POR):c.*137G>A
|
rs886062443
|
|
NM_001395413.1(POR):c.*219G>T
|
rs557751714
|
|
NM_001395413.1(POR):c.*291G>A
|
rs886062445
|
|
NM_001395413.1(POR):c.*40T>G
|
rs1789485173
|
|
NM_001395413.1(POR):c.-14+8C>G
|
rs1040331805
|
|
NM_001395413.1(POR):c.-14G>A
|
rs886062438
|
|
NM_001395413.1(POR):c.-14G>T
|
rs886062438
|
|
NM_001395413.1(POR):c.1048A>C (p.Asn350His)
|
|
|
NM_001395413.1(POR):c.1092T>A (p.Pro364=)
|
rs782729580
|
|
NM_001395413.1(POR):c.1103G>A (p.Arg368His)
|
|
|
NM_001395413.1(POR):c.1129A>G (p.Ile377Val)
|
|
|
NM_001395413.1(POR):c.1169C>T (p.Ala390Val)
|
|
|
NM_001395413.1(POR):c.1181C>T (p.Ser394Leu)
|
|
|
NM_001395413.1(POR):c.1182G>A (p.Ser394=)
|
rs72557928
|
|
NM_001395413.1(POR):c.1236C>T (p.Gly412=)
|
rs1220545486
|
|
NM_001395413.1(POR):c.1307C>T (p.Ser436Phe)
|
rs1789345072
|
|
NM_001395413.1(POR):c.1349G>A (p.Arg450His)
|
|
|
NM_001395413.1(POR):c.1375G>C (p.Ala459Pro)
|
rs72557936
|
|
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
|
|
|
NM_001395413.1(POR):c.1483C>T (p.Arg495Trp)
|
|
|
NM_001395413.1(POR):c.1501G>A (p.Gly501Arg)
|
|
|
NM_001395413.1(POR):c.1504G>A (p.Glu502Lys)
|
rs377159530
|
|
NM_001395413.1(POR):c.1513G>A (p.Gly505Ser)
|
rs547817208
|
|
NM_001395413.1(POR):c.1541G>A (p.Arg514His)
|
|
|
NM_001395413.1(POR):c.1541G>C (p.Arg514Pro)
|
|
|
NM_001395413.1(POR):c.1577C>T (p.Thr526Met)
|
rs782248163
|
|
NM_001395413.1(POR):c.1584CAT[1] (p.Ile529del)
|
|
|
NM_001395413.1(POR):c.1600G>A (p.Gly534Ser)
|
rs569673150
|
|
NM_001395413.1(POR):c.1600G>C (p.Gly534Arg)
|
rs569673150
|
|
NM_001395413.1(POR):c.1713G>C (p.Glu571Asp)
|
rs1414093729
|
|
NM_001395413.1(POR):c.1714G>A (p.Asp572Asn)
|
|
|
NM_001395413.1(POR):c.1721T>C (p.Leu574Pro)
|
rs56256515
|
|
NM_001395413.1(POR):c.1776C>G (p.Asn592Lys)
|
|
|
NM_001395413.1(POR):c.1813G>A (p.Val605Ile)
|
|
|
NM_001395413.1(POR):c.1840G>A (p.Glu614Lys)
|
rs771477130
|
|
NM_001395413.1(POR):c.1851G>T (p.Trp617Cys)
|
|
|
NM_001395413.1(POR):c.1923C>A (p.Asn641Lys)
|
rs781793669
|
|
NM_001395413.1(POR):c.1965C>G (p.His655Gln)
|
rs782143954
|
|
NM_001395413.1(POR):c.1992del (p.Lys664fs)
|
|
|
NM_001395413.1(POR):c.2002A>G (p.Lys668Glu)
|
|
|
NM_001395413.1(POR):c.207T>G (p.Phe69Leu)
|
|
|
NM_001395413.1(POR):c.226A>G (p.Thr76Ala)
|
rs1788485288
|
|
NM_001395413.1(POR):c.229-3T>C
|
|
|
NM_001395413.1(POR):c.236A>T (p.Asn79Ile)
|
|
|
NM_001395413.1(POR):c.263C>T (p.Thr88Met)
|
|
|
NM_001395413.1(POR):c.272C>T (p.Ala91Val)
|
|
|
NM_001395413.1(POR):c.295T>C (p.Ser99Pro)
|
|
|
NM_001395413.1(POR):c.304G>A (p.Ala102Thr)
|
|
|
NM_001395413.1(POR):c.310C>T (p.Arg104Cys)
|
|
|
NM_001395413.1(POR):c.323G>A (p.Arg108Gln)
|
|
|
NM_001395413.1(POR):c.369C>G (p.Ser123Arg)
|
rs2116587581
|
|
NM_001395413.1(POR):c.371G>A (p.Ser124Asn)
|
|
|
NM_001395413.1(POR):c.385G>A (p.Asp129Asn)
|
rs554865831
|
|
NM_001395413.1(POR):c.426G>C (p.Glu142Asp)
|
|
|
NM_001395413.1(POR):c.44C>T (p.Ala15Val)
|
|
|
NM_001395413.1(POR):c.481G>A (p.Val161Met)
|
rs200112691
|
|
NM_001395413.1(POR):c.485A>C (p.Asp162Ala)
|
|
|
NM_001395413.1(POR):c.504C>G (p.Phe168Leu)
|
rs372715546
|
|
NM_001395413.1(POR):c.507G>A (p.Ala169=)
|
|
|
NM_001395413.1(POR):c.511T>A (p.Phe171Ile)
|
|
|
NM_001395413.1(POR):c.514G>A (p.Gly172Ser)
|
|
|
NM_001395413.1(POR):c.529A>G (p.Thr177Ala)
|
|
|
NM_001395413.1(POR):c.530C>G (p.Thr177Ser)
|
rs2116593920
|
|
NM_001395413.1(POR):c.552G>T (p.Met184Ile)
|
rs1554557749
|
|
NM_001395413.1(POR):c.562G>A (p.Val188Met)
|
rs201513102
|
|
NM_001395413.1(POR):c.562G>C (p.Val188Leu)
|
rs201513102
|
|
NM_001395413.1(POR):c.579G>C (p.Glu193Asp)
|
|
|
NM_001395413.1(POR):c.5G>C (p.Gly2Ala)
|
|
|
NM_001395413.1(POR):c.604G>C (p.Glu202Gln)
|
rs1585129186
|
|
NM_001395413.1(POR):c.615G>A (p.Leu205=)
|
rs782714107
|
|
NM_001395413.1(POR):c.625G>C (p.Asp209His)
|
rs374707345
|
|
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del)
|
rs782434696
|
|
NM_001395413.1(POR):c.646T>G (p.Phe216Val)
|
rs1789043381
|
|
NM_001395413.1(POR):c.779T>G (p.Met260Arg)
|
|
|
NM_001395413.1(POR):c.77C>T (p.Thr26Met)
|
|
|
NM_001395413.1(POR):c.804C>A (p.Ser268Arg)
|
rs201598971
|
|
NM_001395413.1(POR):c.808G>A (p.Glu270Lys)
|
|
|
NM_001395413.1(POR):c.815A>G (p.Gln272Arg)
|
rs201697814
|
|
NM_001395413.1(POR):c.891G>C (p.Glu297Asp)
|
|
|
NM_001395413.1(POR):c.939-14A>C
|
rs886062441
|
|
NM_001395413.1(POR):c.955C>T (p.His319Tyr)
|
|
|
NM_001395413.1(POR):c.985G>A (p.Ala329Thr)
|
rs1469610345
|
|
NM_003070.5(SMARCA2):c.3638G>C (p.Arg1213Pro)
|
rs1314729940
|
|
NM_003072.5(SMARCA4):c.276G>C (p.Gln92His)
|
rs1555752030
|
|
NM_003073.5(SMARCB1):c.110G>C (p.Arg37Pro)
|
rs398122368
|
|
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His)
|
rs1728346222
|
|
NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr)
|
|
|
NM_004656.4(BAP1):c.188C>G (p.Ser63Cys)
|
rs747311942
|
|
NM_004656.4(BAP1):c.374A>C (p.Glu125Ala)
|
rs1553645926
|
|
NM_004972.4(JAK2):c.2385G>T (p.Arg795Ser)
|
rs1819621092
|
|
NM_004991.4(MECOM):c.2200C>T (p.Gln734Ter)
|
rs1553838272
|
|
NM_005149.3(TBX19):c.210G>T (p.Met70Ile)
|
rs1558190316
|
|
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)
|
rs1558190989
|
|
NM_006218.4(PIK3CA):c.2086G>A (p.Gly696Arg)
|
rs2108413471
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
NM_013335.4(GMPPA):c.1039G>A (p.Val347Met)
|
|
|
NM_013335.4(GMPPA):c.1045C>T (p.Arg349Cys)
|
|
|
NM_013335.4(GMPPA):c.1057G>A (p.Val353Met)
|
|
|
NM_013335.4(GMPPA):c.1100C>A (p.Ala367Asp)
|
|
|
NM_013335.4(GMPPA):c.1105A>G (p.Met369Val)
|
|
|
NM_013335.4(GMPPA):c.1168C>T (p.Arg390Ter)
|
rs748973371
|
|
NM_013335.4(GMPPA):c.12G>A (p.Ala4=)
|
rs1335428636
|
|
NM_013335.4(GMPPA):c.193C>T (p.Leu65Phe)
|
|
|
NM_013335.4(GMPPA):c.400C>T (p.Arg134Cys)
|
|
|
NM_013335.4(GMPPA):c.439A>G (p.Thr147Ala)
|
rs1186293652
|
|
NM_013335.4(GMPPA):c.467T>C (p.Val156Ala)
|
|
|
NM_013335.4(GMPPA):c.592T>C (p.Phe198Leu)
|
rs773715630
|
|
NM_013335.4(GMPPA):c.872C>T (p.Pro291Leu)
|
|
|
NM_013335.4(GMPPA):c.905G>A (p.Gly302Asp)
|
|
|
NM_015665.6(AAAS):c.-84G>A
|
rs886049653
|
|
NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)
|
|
|
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
|
|
|
NM_015665.6(AAAS):c.1448del (p.Pro483fs)
|
|
|
NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)
|
rs764298213
|
|
NM_015665.6(AAAS):c.1566C>T (p.Ser522=)
|
rs886049648
|
|
NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)
|
rs886049647
|
|
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)
|
rs1114167372
|
|
NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)
|
rs749899811
|
|
NM_015665.6(AAAS):c.259G>T (p.Val87Leu)
|
rs766985003
|
|
NM_015665.6(AAAS):c.327G>A (p.Thr109=)
|
rs190876509
|
|
NM_015665.6(AAAS):c.649A>G (p.Ile217Val)
|
|
|
NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)
|
rs774899476
|
|
NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)
|
|
|
NM_015665.6(AAAS):c.912T>G (p.Ala304=)
|
rs138749872
|
|
NM_015665.6(AAAS):c.936-2A>G
|
rs1565777639
|
|
NM_015665.6(AAAS):c.936-5C>T
|
rs1944343648
|
|
NM_021098.3(CACNA1H):c.1029C>G (p.Tyr343Ter)
|
rs375894182
|
|
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp)
|
rs2141243964
|
|
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys)
|
rs1567508720
|
|
NM_021098.3(CACNA1H):c.1119+13A>T
|
rs1967734739
|
|
NM_021098.3(CACNA1H):c.1120-3C>A
|
|
|
NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu)
|
|
|
NM_021098.3(CACNA1H):c.1175C>G (p.Ser392Ter)
|
|
|
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu)
|
|
|
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys)
|
|
|
NM_021098.3(CACNA1H):c.1213-10C>G
|
rs373660548
|
|
NM_021098.3(CACNA1H):c.1213-18C>A
|
rs57432507
|
|
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=)
|
|
|
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser)
|
rs779840429
|
|
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met)
|
rs370007023
|
|
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
|
rs988908130
|
|
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln)
|
rs1452763580
|
|
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs)
|
rs1596408210
|
|
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val)
|
rs1227599612
|
|
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
|
|
|
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)
|
rs983437887
|
|
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser)
|
rs771750212
|
|
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu)
|
rs746803902
|
|
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly)
|
rs770949848
|
|
NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp)
|
rs1371342942
|
|
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn)
|
rs1041969243
|
|
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn)
|
rs2141256263
|
|
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val)
|
rs1967962877
|
|
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met)
|
rs2141256394
|
|
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val)
|
rs1555498163
|
|
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val)
|
rs918496310
|
|
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe)
|
rs911317802
|
|
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu)
|
|
|
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala)
|
rs935642453
|
|
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser)
|
rs1208126657
|
|
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)
|
|
|
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del)
|
rs1967981000
|
|
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val)
|
rs2141257602
|
|
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
|
|
|
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn)
|
rs1057519554
|
|
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup)
|
rs760736442
|
|
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=)
|
|
|
NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu)
|
|
|
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)
|
|
|
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser)
|
|
|
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val)
|
rs1249878702
|
|
NM_021098.3(CACNA1H):c.1669C>A (p.Pro557Thr)
|
|
|
NM_021098.3(CACNA1H):c.1700C>T (p.Pro567Leu)
|
rs2141259768
|
|
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs)
|
rs2141259958
|
|
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn)
|
rs1968018663
|
|
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His)
|
|
|
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val)
|
rs1968020467
|
|
NM_021098.3(CACNA1H):c.1763G>C (p.Arg588Thr)
|
rs1439734393
|
|
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del)
|
rs762960317
|
|
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del)
|
rs1968031277
|
|
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del)
|
rs773399229
|
|
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del)
|
rs1968032311
|
|
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile)
|
rs890994381
|
|
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)
|
|
|
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)
|
|
|
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe)
|
|
|
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val)
|
|
|
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu)
|
rs781017160
|
|
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
|
|
|
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs)
|
rs2141261620
|
|
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
|
|
|
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs)
|
|
|
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val)
|
rs867292141
|
|
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro)
|
rs1433856447
|
|
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn)
|
rs1453581368
|
|
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly)
|
|
|
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)
|
|
|
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)
|
|
|
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln)
|
rs61734410
|
|
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser)
|
rs1968059158
|
|
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg)
|
rs761227158
|
|
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln)
|
rs771171443
|
|
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln)
|
|
|
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)
|
|
|
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg)
|
rs778111473
|
|
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del)
|
rs753052647
|
|
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met)
|
|
|
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met)
|
rs140979551
|
|
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile)
|
|
|
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly)
|
|
|
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala)
|
rs1968071552
|
|
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala)
|
|
|
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala)
|
|
|
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser)
|
rs1057520145
|
|
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs)
|
|
|
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg)
|
|
|
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala)
|
rs2141277713
|
|
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile)
|
|
|
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser)
|
|
|
NM_021098.3(CACNA1H):c.2051C>G (p.Pro684Arg)
|
|
|
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro)
|
rs2141277907
|
|
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
|
rs1596418694
|
|
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)
|
|
|
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg)
|
rs2141278256
|
|
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
|
rs1596419043
|
|
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)
|
rs774748739
|
|
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp)
|
|
|
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)
|
rs781150755
|
|
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
|
rs1596271034
|
|
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu)
|
|
|
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
|
rs1555513044
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
|
rs1402942281
|
|
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His)
|
rs377176081
|
|
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=)
|
rs774505050
|
|
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala)
|
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln)
|
|
|
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala)
|
rs767816214
|
|
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs)
|
|
|
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)
|
|
|
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser)
|
rs1428706132
|
|
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly)
|
rs2141280761
|
|
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg)
|
|
|
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
|
rs1596421279
|
|
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser)
|
|
|
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)
|
rs1473122688
|
|
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser)
|
rs747178657
|
|
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
|
|
|
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly)
|
rs3751664
|
|
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del)
|
rs1420201619
|
|
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn)
|
rs1567521021
|
|
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile)
|
rs2141281744
|
|
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr)
|
rs2141281763
|
|
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe)
|
|
|
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu)
|
|
|
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln)
|
rs1555513209
|
|
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2451+3G>A
|
rs1596422577
|
|
NM_021098.3(CACNA1H):c.2451+4C>G
|
rs764605459
|
|
NM_021098.3(CACNA1H):c.2451+5G>A
|
|
|
NM_021098.3(CACNA1H):c.2452-3C>T
|
rs372018213
|
|
NM_021098.3(CACNA1H):c.2452-5T>A
|
rs1471116016
|
|
NM_021098.3(CACNA1H):c.2452-5T>G
|
|
|
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro)
|
rs2141288117
|
|
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs)
|
|
|
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly)
|
|
|
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile)
|
rs1404959892
|
|
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly)
|
|
|
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys)
|
|
|
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val)
|
|
|
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln)
|
rs1223248915
|
|
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg)
|
|
|
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
|
rs1596428768
|
|
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
|
rs1596428784
|
|
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=)
|
rs2141289134
|
|
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys)
|
rs2141289290
|
|
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)
|
|
|
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser)
|
rs1968541498
|
|
NM_021098.3(CACNA1H):c.2603+5G>A
|
rs1968547662
|
|
NM_021098.3(CACNA1H):c.2603+5G>T
|
|
|
NM_021098.3(CACNA1H):c.2604-3C>T
|
rs1489658003
|
|
NM_021098.3(CACNA1H):c.260C>T (p.Thr87Met)
|
|
|
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)
|
|
|
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met)
|
rs375605628
|
|
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly)
|
rs547376627
|
|
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln)
|
rs1375491341
|
|
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile)
|
|
|
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln)
|
|
|
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro)
|
|
|
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu)
|
rs2141297110
|
|
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu)
|
|
|
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu)
|
|
|
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr)
|
|
|
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
|
rs1043511168
|
|
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp)
|
|
|
NM_021098.3(CACNA1H):c.2770C>T (p.Leu924Phe)
|
|
|
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu)
|
|
|
NM_021098.3(CACNA1H):c.2789+6C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-24_2790-2del
|
rs767709133
|
|
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile)
|
|
|
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe)
|
rs1471872554
|
|
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile)
|
|
|
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile)
|
|
|
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser)
|
rs1339365288
|
|
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn)
|
|
|
NM_021098.3(CACNA1H):c.2858A>C (p.Asp953Ala)
|
|
|
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu)
|
|
|
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
|
|
|
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val)
|
rs1299774056
|
|
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys)
|
|
|
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val)
|
rs1968823371
|
|
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile)
|
|
|
NM_021098.3(CACNA1H):c.2932G>A (p.Val978Met)
|
|
|
NM_021098.3(CACNA1H):c.2946C>G (p.Asn982Lys)
|
|
|
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val)
|
rs766946572
|
|
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile)
|
rs891172463
|
|
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
|
|
|
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val)
|
rs1265393669
|
|
NM_021098.3(CACNA1H):c.299+7T>A
|
|
|
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe)
|
rs768438272
|
|
NM_021098.3(CACNA1H):c.300-3C>T
|
rs1596380517
|
|
NM_021098.3(CACNA1H):c.3011A>G (p.Tyr1004Cys)
|
|
|
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe)
|
rs1242224134
|
|
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val)
|
|
|
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly)
|
|
|
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val)
|
rs2141309026
|
|
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala)
|
|
|
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu)
|
rs771994752
|
|
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
|
|
|
NM_021098.3(CACNA1H):c.3084C>G (p.Asp1028Glu)
|
rs1345041119
|
|
NM_021098.3(CACNA1H):c.3104C>T (p.Ser1035Leu)
|
|
|
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu)
|
rs374946880
|
|
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser)
|
|
|
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln)
|
|
|
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys)
|
rs1555514736
|
|
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)
|
|
|
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del)
|
rs1555514742
|
|
NM_021098.3(CACNA1H):c.3154+4C>A
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>G
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-7C>G
|
rs376008324
|
|
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met)
|
rs369966669
|
|
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser)
|
rs1968957429
|
|
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn)
|
rs2141316062
|
|
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser)
|
|
|
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu)
|
rs1288170321
|
|
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val)
|
rs1368323486
|
|
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro)
|
rs776256025
|
|
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser)
|
rs1049677203
|
|
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
|
|
|
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu)
|
rs1184994482
|
|
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met)
|
rs1567531841
|
|
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
|
|
|
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_021098.3(CACNA1H):c.3317G>A (p.Gly1106Asp)
|
|
|
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
|
rs59529743
|
|
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg)
|
|
|
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)
|
|
|
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu)
|
|
|
NM_021098.3(CACNA1H):c.3363+3A>G
|
|
|
NM_021098.3(CACNA1H):c.3364-5C>A
|
rs768382135
|
|
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr)
|
rs1317286644
|
|
NM_021098.3(CACNA1H):c.3387_3395del (p.Cys1129_Pro1131del)
|
rs1255783381
|
|
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)
|
|
|
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala)
|
rs377297229
|
|
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp)
|
|
|
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr)
|
|
|
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn)
|
rs1205390921
|
|
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met)
|
rs375342465
|
|
NM_021098.3(CACNA1H):c.3445G>T (p.Gly1149Cys)
|
rs753696656
|
|
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala)
|
|
|
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro)
|
|
|
NM_021098.3(CACNA1H):c.3488G>A (p.Arg1163His)
|
|
|
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser)
|
rs753966852
|
|
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=)
|
|
|
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly)
|
rs1379085668
|
|
NM_021098.3(CACNA1H):c.3533A>G (p.Glu1178Gly)
|
rs2141327353
|
|
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly)
|
|
|
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)
|
|
|
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=)
|
rs1342020189
|
|
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr)
|
|
|
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His)
|
rs1233148543
|
|
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val)
|
rs1461904626
|
|
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter)
|
|
|
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala)
|
rs1555515661
|
|
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr)
|
rs1185269498
|
|
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe)
|
rs1969139516
|
|
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg)
|
rs746322724
|
|
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val)
|
|
|
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val)
|
rs780672769
|
|
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His)
|
rs768716174
|
|
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg)
|
rs1176658784
|
|
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del)
|
rs780993667
|
|
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro)
|
rs1969157452
|
|
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)
|
rs571145188
|
|
NM_021098.3(CACNA1H):c.3745-5C>A
|
rs1405799623
|
|
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp)
|
rs761298608
|
|
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)
|
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala)
|
rs2141335147
|
|
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
|
rs189425202
|
|
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val)
|
rs1969249888
|
|
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys)
|
|
|
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3845+3G>A
|
rs1969252611
|
|
NM_021098.3(CACNA1H):c.3846-32_3846-12del
|
|
|
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His)
|
rs748613561
|
|
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp)
|
rs1359854181
|
|
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe)
|
rs776740325
|
|
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter)
|
|
|
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)
|
|
|
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val)
|
|
|
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His)
|
rs2141338845
|
|
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
|
|
|
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile)
|
rs200904795
|
|
NM_021098.3(CACNA1H):c.3907T>C (p.Phe1303Leu)
|
rs2141339082
|
|
NM_021098.3(CACNA1H):c.3916C>G (p.Leu1306Val)
|
|
|
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe)
|
rs751450496
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)
|
|
|
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly)
|
|
|
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)
|
|
|
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His)
|
|
|
NM_021098.3(CACNA1H):c.3969+1G>A
|
rs1303395495
|
|
NM_021098.3(CACNA1H):c.3970-8C>G
|
|
|
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp)
|
rs777616508
|
|
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg)
|
rs770769436
|
|
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser)
|
rs1969322876
|
|
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met)
|
|
|
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=)
|
rs372696265
|
|
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val)
|
|
|
NM_021098.3(CACNA1H):c.4038+4C>A
|
|
|
NM_021098.3(CACNA1H):c.4038+6G>C
|
rs112068805
|
|
NM_021098.3(CACNA1H):c.4039-20_4039-19delinsAA
|
|
|
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe)
|
rs1184282257
|
|
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro)
|
|
|
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser)
|
rs1270361787
|
|
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly)
|
|
|
NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val)
|
|
|
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
|
|
|
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly)
|
rs566220434
|
|
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser)
|
|
|
NM_021098.3(CACNA1H):c.4196G>A (p.Arg1399His)
|
rs1457901172
|
|
NM_021098.3(CACNA1H):c.4223+3G>A
|
rs1241517773
|
|
NM_021098.3(CACNA1H):c.4223+6G>T
|
rs1969373645
|
|
NM_021098.3(CACNA1H):c.4224-8C>G
|
|
|
NM_021098.3(CACNA1H):c.422C>G (p.Ala141Gly)
|
|
|
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp)
|
rs759233103
|
|
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe)
|
|
|
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu)
|
rs2141197660
|
|
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)
|
|
|
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His)
|
|
|
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val)
|
|
|
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr)
|
rs2141346266
|
|
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)
|
|
|
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val)
|
rs1379672193
|
|
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile)
|
|
|
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala)
|
rs1567541260
|
|
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile)
|
|
|
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu)
|
rs777667628
|
|
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser)
|
|
|
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met)
|
rs965904368
|
|
NM_021098.3(CACNA1H):c.4350+1G>A
|
|
|
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
|
|
|
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly)
|
|
|
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser)
|
|
|
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg)
|
rs1567542033
|
|
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser)
|
rs181140276
|
|
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly)
|
|
|
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val)
|
rs750887213
|
|
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys)
|
|
|
NM_021098.3(CACNA1H):c.4476+6C>T
|
rs1969458295
|
|
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys)
|
rs1969476340
|
|
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe)
|
|
|
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn)
|
rs1969476982
|
|
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=)
|
|
|
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)
|
|
|
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=)
|
rs1969479808
|
|
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)
|
rs1966873640
|
|
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly)
|
|
|
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del)
|
rs775597863
|
|
NM_021098.3(CACNA1H):c.4566+5G>A
|
|
|
NM_021098.3(CACNA1H):c.4580A>G (p.His1527Arg)
|
rs2141351607
|
|
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser)
|
|
|
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg)
|
rs1969502459
|
|
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg)
|
rs2141351732
|
|
NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser)
|
rs2141352066
|
|
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile)
|
rs1159226662
|
|
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp)
|
rs967037376
|
|
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
|
rs558718048
|
|
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)
|
|
|
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del)
|
rs1447090901
|
|
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln)
|
|
|
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg)
|
rs1969518741
|
|
NM_021098.3(CACNA1H):c.4752G>T (p.Arg1584Ser)
|
|
|
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu)
|
rs774569737
|
|
NM_021098.3(CACNA1H):c.4759+1G>A
|
rs1406256818
|
|
NM_021098.3(CACNA1H):c.4759+4A>G
|
rs1567543703
|
|
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)
|
|
|
NM_021098.3(CACNA1H):c.4760-1G>T
|
rs1173893014
|
|
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn)
|
|
|
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala)
|
rs1555517834
|
|
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
|
rs1596462609
|
|
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu)
|
rs1969579859
|
|
NM_021098.3(CACNA1H):c.4777+1G>T
|
|
|
NM_021098.3(CACNA1H):c.4777+5C>G
|
rs370513262
|
|
NM_021098.3(CACNA1H):c.4777+6G>C
|
|
|
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe)
|
rs1555518356
|
|
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)
|
|
|
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu)
|
rs761945003
|
|
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser)
|
|
|
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)
|
rs377532485
|
|
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro)
|
|
|
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)
|
|
|
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)
|
rs119454947
|
|
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln)
|
|
|
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro)
|
rs1969748016
|
|
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe)
|
|
|
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala)
|
rs1555518486
|
|
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)
|
rs1450404169
|
|
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe)
|
rs58146518
|
|
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
|
rs1596466547
|
|
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln)
|
rs766396848
|
|
NM_021098.3(CACNA1H):c.4929+4G>A
|
rs1969758497
|
|
NM_021098.3(CACNA1H):c.4930-3C>A
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4930-3C>T
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe)
|
rs1969888724
|
|
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser)
|
rs2141374211
|
|
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr)
|
|
|
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val)
|
rs1317563201
|
|
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)
|
|
|
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp)
|
rs760740366
|
|
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)
|
|
|
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val)
|
rs755567471
|
|
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val)
|
rs2141376108
|
|
NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala)
|
rs1969920469
|
|
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter)
|
rs1555519084
|
|
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del)
|
rs1596470148
|
|
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile)
|
|
|
NM_021098.3(CACNA1H):c.5158C>T (p.Leu1720Phe)
|
|
|
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val)
|
|
|
NM_021098.3(CACNA1H):c.5173+5G>A
|
rs1567550121
|
|
NM_021098.3(CACNA1H):c.5173+9C>G
|
rs1018925405
|
|
NM_021098.3(CACNA1H):c.5174-6C>A
|
|
|
NM_021098.3(CACNA1H):c.5174-8G>A
|
rs200481928
|
|
NM_021098.3(CACNA1H):c.5198C>G (p.Thr1733Arg)
|
|
|
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser)
|
rs1567495146
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val)
|
|
|
NM_021098.3(CACNA1H):c.5255T>C (p.Leu1752Pro)
|
rs1970075682
|
|
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
|
|
|
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del)
|
rs1567552660
|
|
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val)
|
rs200775729
|
|
NM_021098.3(CACNA1H):c.5347G>A (p.Glu1783Lys)
|
rs1354832663
|
|
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln)
|
rs769283823
|
|
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr)
|
|
|
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu)
|
rs537055062
|
|
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met)
|
|
|
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg)
|
rs2141392324
|
|
NM_021098.3(CACNA1H):c.5445+4C>A
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+4C>G
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+5C>T
|
rs963438880
|
|
NM_021098.3(CACNA1H):c.5446-9C>A
|
rs1596475466
|
|
NM_021098.3(CACNA1H):c.5455C>T (p.Arg1819Cys)
|
|
|
NM_021098.3(CACNA1H):c.546-2A>G
|
|
|
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys)
|
rs1970194241
|
|
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn)
|
rs2141393648
|
|
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu)
|
|
|
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu)
|
rs763029586
|
|
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg)
|
rs202070652
|
|
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)
|
|
|
NM_021098.3(CACNA1H):c.5486_5498del (p.Leu1829fs)
|
|
|
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val)
|
rs61732194
|
|
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val)
|
|
|
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)
|
|
|
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met)
|
|
|
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup)
|
rs2141394048
|
|
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu)
|
rs986566182
|
|
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu)
|
|
|
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
|
|
|
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg)
|
rs2141394365
|
|
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg)
|
|
|
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del)
|
|
|
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)
|
|
|
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_021098.3(CACNA1H):c.5674C>A (p.Arg1892Ser)
|
rs1292896960
|
|
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu)
|
rs1175587489
|
|
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr)
|
rs1324632906
|
|
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu)
|
|
|
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)
|
|
|
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter)
|
rs1172357662
|
|
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
|
|
|
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu)
|
rs1555520320
|
|
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile)
|
rs931586782
|
|
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe)
|
rs1366597055
|
|
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu)
|
|
|
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser)
|
|
|
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu)
|
rs746487526
|
|
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)
|
|
|
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp)
|
rs1291910282
|
|
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser)
|
rs1970223117
|
|
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr)
|
rs1413245721
|
|
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala)
|
|
|
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu)
|
|
|
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val)
|
rs1970226967
|
|
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg)
|
|
|
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val)
|
rs780614055
|
|
NM_021098.3(CACNA1H):c.5887+5G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-18G>T
|
|
|
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala)
|
|
|
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg)
|
rs996694379
|
|
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys)
|
rs2141398956
|
|
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe)
|
rs550577430
|
|
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=)
|
|
|
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val)
|
|
|
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe)
|
|
|
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=)
|
|
|
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg)
|
rs753397534
|
|
NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg)
|
|
|
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)
|
|
|
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)
|
|
|
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)
|
|
|
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp)
|
|
|
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser)
|
rs72552056
|
|
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu)
|
rs368553931
|
|
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val)
|
rs1970273640
|
|
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp)
|
rs753241781
|
|
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)
|
|
|
NM_021098.3(CACNA1H):c.6048+2_6048+5del
|
rs1172256364
|
|
NM_021098.3(CACNA1H):c.6049-7C>G
|
rs1970353381
|
|
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala)
|
rs2141405874
|
|
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala)
|
|
|
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala)
|
|
|
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly)
|
rs748236037
|
|
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)
|
|
|
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val)
|
rs746778552
|
|
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala)
|
|
|
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly)
|
|
|
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
|
rs1555520783
|
|
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)
|
rs1567558436
|
|
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg)
|
|
|
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu)
|
rs2141406634
|
|
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met)
|
rs756418923
|
|
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)
|
|
|
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg)
|
rs1005279922
|
|
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu)
|
rs2141407028
|
|
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp)
|
rs373707854
|
|
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)
|
|
|
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala)
|
rs1970366026
|
|
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His)
|
rs765706404
|
|
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly)
|
rs758461760
|
|
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro)
|
rs1555520840
|
|
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp)
|
|
|
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)
|
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val)
|
|
|
NM_021098.3(CACNA1H):c.6292G>T (p.Asp2098Tyr)
|
rs763330346
|
|
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del)
|
rs1567559045
|
|
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)
|
|
|
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile)
|
rs1970373796
|
|
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp)
|
rs183014006
|
|
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu)
|
rs772154386
|
|
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val)
|
rs769490814
|
|
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp)
|
rs1970381464
|
|
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
|
|
|
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)
|
rs752385455
|
|
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=)
|
|
|
NM_021098.3(CACNA1H):c.643+3A>G
|
|
|
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro)
|
rs1970385250
|
|
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr)
|
rs1319777512
|
|
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs)
|
|
|
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln)
|
|
|
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly)
|
|
|
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp)
|
rs752621913
|
|
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys)
|
rs761679939
|
|
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=)
|
rs1171444249
|
|
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp)
|
|
|
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
|
|
|
NM_021098.3(CACNA1H):c.6526G>C (p.Glu2176Gln)
|
rs768826048
|
|
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
|
|
|
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del)
|
rs766893201
|
|
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser)
|
rs538538654
|
|
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)
|
|
|
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu)
|
|
|
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del)
|
rs763914077
|
|
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys)
|
rs1555521047
|
|
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg)
|
rs1265575905
|
|
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys)
|
rs2141410625
|
|
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)
|
|
|
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln)
|
|
|
NM_021098.3(CACNA1H):c.662C>T (p.Thr221Ile)
|
rs1368252007
|
|
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs)
|
|
|
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp)
|
|
|
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)
|
|
|
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser)
|
|
|
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala)
|
rs1596481482
|
|
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup)
|
rs2141411243
|
|
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del)
|
|
|
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg)
|
rs200606995
|
|
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
|
|
|
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn)
|
rs764148791
|
|
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs)
|
rs753624103
|
|
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser)
|
rs375586314
|
|
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg)
|
rs2141412071
|
|
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly)
|
|
|
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro)
|
|
|
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn)
|
|
|
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=)
|
rs2141412462
|
|
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His)
|
rs943817403
|
|
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val)
|
|
|
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)
|
|
|
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala)
|
rs760918600
|
|
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met)
|
|
|
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu)
|
rs1970426412
|
|
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val)
|
rs540026021
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu)
|
|
|
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
|
|
|
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr)
|
rs774338957
|
|
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly)
|
rs1970429885
|
|
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp)
|
|
|
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu)
|
rs2141413399
|
|
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val)
|
|
|
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs)
|
rs750261505
|
|
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs)
|
|
|
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg)
|
rs2141413668
|
|
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg)
|
rs1596482455
|
|
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu)
|
rs759417643
|
|
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp)
|
|
|
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)
|
rs757713867
|
|
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser)
|
|
|
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile)
|
rs1970440739
|
|
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu)
|
rs1194032246
|
|
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val)
|
|
|
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?))
|
|
|
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.718G>C (p.Val240Leu)
|
rs369630836
|
|
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del)
|
rs748582978
|
|
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val)
|
rs2151603406
|
|
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro)
|
|
|
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
|
|
|
NM_021098.3(CACNA1H):c.836A>G (p.Tyr279Cys)
|
rs1364510020
|
|
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg)
|
|
|
NM_021098.3(CACNA1H):c.875C>T (p.Ser292Phe)
|
|
|
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro)
|
rs2141242222
|
|
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu)
|
rs749305814
|
|
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser)
|
|
|
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=)
|
rs2141242375
|
|
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu)
|
rs1219214145
|
|
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg)
|
rs1195218337
|
|
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp)
|
rs867008505
|
|
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys)
|
|
|
NM_021098.3(CACNA1H):c.956G>C (p.Trp319Ser)
|
|
|
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe)
|
|
|
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)
|
|
|
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala)
|
|
|
NM_031925.3(TMEM120A):c.*313C>T
|
rs1554559685
|
|
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys)
|
rs1555564365
|
|
NM_182977.3(NNT):c.1822G>A (p.Gly608Arg)
|
rs2111899861
|
|
Single allele
|
|
|
t(12;16)(q13.13;p11.2)
|
|
|
t(17;19)(q25.1;p13.3)
|
|
|