NM_001161352.2(KCNMA1):c.3016+1137A>C
|
rs2395443
|
0.99879
|
NM_001161352.2(KCNMA1):c.1223+289G>A
|
rs1871066
|
0.92680
|
NM_001161352.2(KCNMA1):c.2360+63T>C
|
rs2288837
|
0.81911
|
NM_001161352.2(KCNMA1):c.2484+249C>G
|
rs3816025
|
0.79865
|
NM_001161352.2(KCNMA1):c.2485-178G>A
|
rs1907715
|
0.79407
|
NM_001161352.2(KCNMA1):c.3343-275A>G
|
rs2288839
|
0.78794
|
NM_001161352.2(KCNMA1):c.3016+1054C>A
|
rs2395444
|
0.67163
|
NM_001161352.2(KCNMA1):c.3343-72G>A
|
rs2288840
|
0.64863
|
NM_001161352.2(KCNMA1):c.2015+37C>T
|
rs16934182
|
0.55282
|
NC_000010.11:g.77637916G>A
|
rs2720006
|
0.48874
|
NM_001161352.2(KCNMA1):c.2484+2001T>C
|
rs7086746
|
0.43529
|
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
|
rs1131824
|
0.43499
|
NM_001161352.2(KCNMA1):c.809-137T>C
|
rs7907270
|
0.37923
|
NM_001161352.2(KCNMA1):c.808+164T>C
|
rs12767900
|
0.26841
|
NM_001161352.2(KCNMA1):c.2485-79C>T
|
rs12770084
|
0.24013
|
NM_001161352.2(KCNMA1):c.3016+554G>A
|
rs11001928
|
0.22831
|
NM_001161352.2(KCNMA1):c.696+281T>C
|
rs34536108
|
0.22245
|
NM_001161352.2(KCNMA1):c.2484+291C>T
|
rs12773532
|
0.21778
|
NM_001161352.2(KCNMA1):c.2485-191A>G
|
rs12771435
|
0.21187
|
NM_001161352.2(KCNMA1):c.378+560G>A
|
rs12217221
|
0.16780
|
NM_001161352.2(KCNMA1):c.3461+237C>T
|
rs11001919
|
0.16342
|
NM_001161352.2(KCNMA1):c.1335-254A>G
|
rs12354965
|
0.13167
|
NM_001161352.2(KCNMA1):c.960+157C>A
|
rs1347543
|
0.10439
|
NM_001161352.2(KCNMA1):c.1860-225A>G
|
rs56176748
|
0.06047
|
NM_001161352.2(KCNMA1):c.1594-60A>G
|
rs2274416
|
0.05856
|
NM_001161352.2(KCNMA1):c.1524-76G>T
|
rs45495698
|
0.05829
|
NM_001161352.2(KCNMA1):c.603-123del
|
rs150813973
|
0.05581
|
NM_001161352.2(KCNMA1):c.884+195T>C
|
rs77231005
|
0.05340
|
NM_001161352.2(KCNMA1):c.1224-170G>A
|
rs2296676
|
0.05322
|
NM_001161352.2(KCNMA1):c.3147+149A>G
|
rs16934014
|
0.04722
|
NM_001161352.2(KCNMA1):c.2710-8T>C
|
rs78672251
|
0.03213
|
NM_001161352.2(KCNMA1):c.378+302G>A
|
rs76903211
|
0.02905
|
NM_001161352.2(KCNMA1):c.2016-208C>A
|
rs73288598
|
0.02900
|
NM_001161352.2(KCNMA1):c.602+59T>C
|
rs45602845
|
0.02573
|
NM_001161352.2(KCNMA1):c.1224-165T>A
|
rs61586527
|
0.02194
|
NM_001161352.2(KCNMA1):c.1860-236A>C
|
rs10824484
|
0.02180
|
NM_001161352.2(KCNMA1):c.960+48C>A
|
rs12355548
|
0.02175
|
NM_001161352.2(KCNMA1):c.1224-52G>C
|
rs11002011
|
0.02160
|
NM_001161352.2(KCNMA1):c.3016+83T>C
|
rs75628904
|
0.01877
|
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=)
|
rs74140280
|
0.01852
|
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=)
|
rs77280228
|
0.01731
|
NM_001161352.2(KCNMA1):c.2361-215G>C
|
rs77994616
|
0.01713
|
NM_001161352.2(KCNMA1):c.1440+169G>C
|
rs73290372
|
0.01388
|
NM_001161352.2(KCNMA1):c.2484+1307G>A
|
rs111332131
|
0.01375
|
NM_001161352.2(KCNMA1):c.697-100A>G
|
rs41274576
|
0.01327
|
NM_001161352.2(KCNMA1):c.3342+144T>C
|
rs77591460
|
0.01309
|
NM_001161352.2(KCNMA1):c.3148-34A>G
|
rs112120932
|
0.01307
|
NM_001161352.2(KCNMA1):c.*321C>T
|
rs7078702
|
0.01265
|
NM_001161352.2(KCNMA1):c.1928+2542A>G
|
rs545506676
|
0.01193
|
NM_001161352.2(KCNMA1):c.2015+38G>A
|
rs74140254
|
0.01186
|
NM_001161352.2(KCNMA1):c.2485-337A>G
|
rs73282582
|
0.01180
|
NM_001161352.2(KCNMA1):c.2485-41C>T
|
rs79866794
|
0.01040
|
NM_001161352.2(KCNMA1):c.378+771G>C
|
rs139968359
|
0.01007
|
NM_001161352.2(KCNMA1):c.3016+339T>C
|
rs113343323
|
0.00983
|
NM_001161352.2(KCNMA1):c.3462-46T>C
|
rs79626673
|
0.00965
|
NM_001161352.2(KCNMA1):c.2360+97C>T
|
rs145975680
|
0.00918
|
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=)
|
rs41274568
|
0.00917
|
NM_001161352.2(KCNMA1):c.3016+1103C>T
|
rs80018326
|
0.00868
|
NM_001161352.2(KCNMA1):c.541-69A>G
|
rs114938548
|
0.00782
|
NM_001161352.2(KCNMA1):c.1859+64A>G
|
rs77765592
|
0.00716
|
NM_001161352.2(KCNMA1):c.809-28T>G
|
rs78403702
|
0.00702
|
NM_001161352.2(KCNMA1):c.961-68G>A
|
rs73291905
|
0.00692
|
NM_001161352.2(KCNMA1):c.1749+11G>A
|
rs116546993
|
0.00682
|
NM_001161352.2(KCNMA1):c.1131+41G>T
|
rs75389547
|
0.00630
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
|
rs45527834
|
0.00578
|
NM_001161352.2(KCNMA1):c.1594-154G>A
|
rs116122608
|
0.00566
|
NM_001161352.2(KCNMA1):c.3147+277G>A
|
rs80033559
|
0.00530
|
NM_001161352.2(KCNMA1):c.885-37G>C
|
rs182424455
|
0.00484
|
NM_001161352.2(KCNMA1):c.961-30C>G
|
rs76745716
|
0.00484
|
NM_001161352.2(KCNMA1):c.3147+291A>T
|
rs552208552
|
0.00483
|
NM_001161352.2(KCNMA1):c.1224-197C>T
|
rs146636840
|
0.00467
|
NM_001161352.2(KCNMA1):c.3017-330A>C
|
rs11001927
|
0.00466
|
NM_001161352.2(KCNMA1):c.960+283del
|
rs375872842
|
0.00409
|
NM_001161352.2(KCNMA1):c.961-115G>A
|
rs7090036
|
0.00406
|
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=)
|
rs45586138
|
0.00372
|
NM_001161352.2(KCNMA1):c.1860-151C>T
|
rs116144202
|
0.00334
|
NM_001161352.2(KCNMA1):c.2361-304G>A
|
rs149708794
|
0.00331
|
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=)
|
rs79713097
|
0.00314
|
NM_001161352.2(KCNMA1):c.*394C>A
|
rs41281550
|
0.00287
|
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=)
|
rs2229009
|
0.00285
|
NM_001161352.2(KCNMA1):c.2015+161T>C
|
rs191535587
|
0.00263
|
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val)
|
rs144215383
|
0.00178
|
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=)
|
rs45617636
|
0.00151
|
NM_001161352.2(KCNMA1):c.961-13C>G
|
rs201400753
|
0.00148
|
NM_001161352.2(KCNMA1):c.3051C>T (p.Asp1017=)
|
rs115772068
|
0.00145
|
NM_001161352.2(KCNMA1):c.1056C>T (p.Thr352=)
|
rs75207686
|
0.00142
|
NM_001161352.2(KCNMA1):c.2937A>G (p.Pro979=)
|
rs138823071
|
0.00091
|
NM_001161352.2(KCNMA1):c.144T>C (p.Ser48=)
|
rs200608314
|
0.00060
|
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys)
|
rs143599540
|
0.00045
|
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg)
|
rs200474297
|
0.00044
|
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=)
|
rs147369374
|
0.00041
|
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=)
|
rs149647577
|
0.00033
|
NM_001161352.2(KCNMA1):c.2267-4486C>T
|
rs188354139
|
0.00032
|
NM_001161352.2(KCNMA1):c.90C>T (p.His30=)
|
rs75040504
|
0.00032
|
NM_001161352.2(KCNMA1):c.3148-8T>C
|
rs79155047
|
0.00031
|
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=)
|
rs75116272
|
0.00030
|
NM_001161352.2(KCNMA1):c.1441-11C>T
|
rs79390996
|
0.00028
|
NM_001161352.2(KCNMA1):c.1737G>A (p.Arg579=)
|
rs76141718
|
0.00026
|
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=)
|
rs147378590
|
0.00021
|
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr)
|
rs142210216
|
0.00021
|
NM_001161352.2(KCNMA1):c.1919G>A (p.Arg640Gln)
|
rs80266334
|
0.00019
|
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=)
|
rs74699271
|
0.00019
|
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=)
|
rs143562140
|
0.00018
|
NM_001161352.2(KCNMA1):c.2548G>A (p.Val850Ile)
|
rs142770262
|
0.00017
|
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn)
|
rs794726902
|
0.00012
|
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=)
|
rs139309224
|
0.00012
|
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=)
|
rs748427000
|
0.00011
|
NM_001161352.2(KCNMA1):c.2838G>A (p.Ala946=)
|
rs113441525
|
0.00011
|
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=)
|
rs61736948
|
0.00010
|
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)
|
rs914048941
|
0.00009
|
NM_001161352.2(KCNMA1):c.1749+6G>A
|
rs373648078
|
0.00009
|
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu)
|
rs373620901
|
0.00009
|
NM_001161352.2(KCNMA1):c.2484+1682T>C
|
rs201985454
|
0.00009
|
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=)
|
rs200741233
|
0.00009
|
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile)
|
rs200773083
|
0.00008
|
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=)
|
rs201721843
|
0.00007
|
NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=)
|
rs201924445
|
0.00007
|
NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=)
|
rs755284666
|
0.00006
|
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala)
|
rs200420124
|
0.00006
|
NM_001161352.2(KCNMA1):c.2469A>C (p.Ile823=)
|
rs111630810
|
0.00006
|
NM_001161352.2(KCNMA1):c.2499T>C (p.Ala833=)
|
rs771436196
|
0.00006
|
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=)
|
rs2227913
|
0.00006
|
NM_001161352.2(KCNMA1):c.3547G>A (p.Gly1183Ser)
|
rs549360933
|
0.00006
|
NM_001161352.2(KCNMA1):c.2015+5G>C
|
rs746586408
|
0.00005
|
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=)
|
rs202161397
|
0.00004
|
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=)
|
rs139515379
|
0.00004
|
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=)
|
rs78544619
|
0.00004
|
NM_001161352.2(KCNMA1):c.3267G>A (p.Pro1089=)
|
rs189703190
|
0.00004
|
NM_001161352.2(KCNMA1):c.3471C>T (p.Ile1157=)
|
rs200321180
|
0.00004
|
NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln)
|
rs75843969
|
0.00004
|
NM_001161352.2(KCNMA1):c.378+834G>A
|
rs930939657
|
0.00004
|
NM_001161352.2(KCNMA1):c.498G>A (p.Ala166=)
|
rs201765039
|
0.00004
|
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=)
|
rs367642241
|
0.00004
|
NM_001161352.2(KCNMA1):c.783T>C (p.Ser261=)
|
rs145604644
|
0.00004
|
NM_001161352.2(KCNMA1):c.1122C>T (p.Leu374=)
|
rs781404437
|
0.00003
|
NM_001161352.2(KCNMA1):c.1614G>A (p.Pro538=)
|
rs368568833
|
0.00003
|
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)
|
rs2229008
|
0.00003
|
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=)
|
rs767100016
|
0.00003
|
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu)
|
rs587780363
|
0.00003
|
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
|
rs75573826
|
0.00003
|
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met)
|
rs200440843
|
0.00003
|
NM_001161352.2(KCNMA1):c.2693A>G (p.Lys898Arg)
|
rs200714367
|
0.00003
|
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met)
|
rs201192736
|
0.00003
|
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=)
|
rs201397661
|
0.00003
|
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
|
rs148648986
|
0.00003
|
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val)
|
rs369845234
|
0.00003
|
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
|
rs762346849
|
0.00002
|
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn)
|
rs201996416
|
0.00002
|
NM_001161352.2(KCNMA1):c.1928+10C>T
|
rs200921631
|
0.00002
|
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser)
|
rs886043569
|
0.00002
|
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile)
|
rs764912308
|
0.00002
|
NM_001161352.2(KCNMA1):c.3318C>T (p.Leu1106=)
|
rs779632278
|
0.00002
|
NM_001161352.2(KCNMA1):c.3462-10C>T
|
rs559764920
|
0.00002
|
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala)
|
rs199568153
|
0.00002
|
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
|
rs200410171
|
0.00002
|
NM_001161352.2(KCNMA1):c.1224-6G>A
|
rs370838557
|
0.00001
|
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly)
|
rs137853333
|
0.00001
|
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=)
|
rs201999021
|
0.00001
|
NM_001161352.2(KCNMA1):c.1623T>C (p.Asn541=)
|
rs762789995
|
0.00001
|
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly)
|
rs760442123
|
0.00001
|
NM_001161352.2(KCNMA1):c.2021T>A (p.Phe674Tyr)
|
rs755126695
|
0.00001
|
NM_001161352.2(KCNMA1):c.2280G>A (p.Gln760=)
|
rs544095112
|
0.00001
|
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu)
|
rs771363378
|
0.00001
|
NM_001161352.2(KCNMA1):c.2436T>C (p.Thr812=)
|
rs779629574
|
0.00001
|
NM_001161352.2(KCNMA1):c.2484+33G>A
|
rs201892905
|
0.00001
|
NM_001161352.2(KCNMA1):c.2484+9G>C
|
rs767569709
|
0.00001
|
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=)
|
rs200166976
|
0.00001
|
NM_001161352.2(KCNMA1):c.2527G>A (p.Val843Met)
|
rs751748880
|
0.00001
|
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile)
|
rs768061213
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+6T>C
|
rs558650814
|
0.00001
|
NM_001161352.2(KCNMA1):c.3207G>A (p.Thr1069=)
|
rs1298795044
|
0.00001
|
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)
|
rs1395464276
|
0.00001
|
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
|
rs1314238418
|
0.00001
|
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=)
|
rs200045097
|
0.00001
|
NM_001161352.2(KCNMA1):c.3342+10C>T
|
rs752873857
|
0.00001
|
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met)
|
rs200284976
|
0.00001
|
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)
|
rs747029218
|
0.00001
|
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln)
|
rs200141207
|
0.00001
|
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=)
|
rs75138661
|
0.00001
|
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly)
|
rs985517880
|
0.00001
|
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro)
|
rs1370349180
|
0.00001
|
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile)
|
rs1002138627
|
0.00001
|
NM_001161352.2(KCNMA1):c.459C>T (p.Ala153=)
|
rs779927857
|
0.00001
|
NM_001161352.2(KCNMA1):c.462C>T (p.Ala154=)
|
rs200015007
|
0.00001
|
NM_001161352.2(KCNMA1):c.513C>T (p.Ser171=)
|
rs200815735
|
0.00001
|
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp)
|
rs888320237
|
0.00001
|
NM_001161352.2(KCNMA1):c.70_73del (p.Leu23_Arg24insTer)
|
rs2093893902
|
0.00001
|
NM_001161352.2(KCNMA1):c.930G>A (p.Thr310=)
|
rs1486636115
|
0.00001
|
GRCh37/hg19 10q22.3(chr10:79037596-79123321)x1
|
|
|
GRCh37/hg19 10q22.3(chr10:79172158-79238337)x1
|
|
|
GRCh37/hg19 10q22.3(chr10:79187957-79209190)x1
|
|
|
GRCh37/hg19 10q22.3(chr10:79280893-79342926)x1
|
|
|
GRCh37/hg19 10q22.3(chr10:79284201-79351792)x1
|
|
|
NM_001014797.3(KCNMA1):c.3525-6C>A
|
|
|
NM_001161352.2(KCNMA1):c.-101_-96dup
|
rs545094311
|
|
NM_001161352.2(KCNMA1):c.1079C>T (p.Ala360Val)
|
|
|
NM_001161352.2(KCNMA1):c.1088C>T (p.Thr363Ile)
|
|
|
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg)
|
rs1554829003
|
|
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
|
|
|
NM_001161352.2(KCNMA1):c.1132-256G>T
|
rs2574790
|
|
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[6] (p.Ser60del)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His)
|
rs1397483743
|
|
NM_001161352.2(KCNMA1):c.1181G>T (p.Arg394Leu)
|
|
|
NM_001161352.2(KCNMA1):c.1223+35C>T
|
rs45459294
|
|
NM_001161352.2(KCNMA1):c.1223+59dup
|
rs35119991
|
|
NM_001161352.2(KCNMA1):c.1223+71_1223+73del
|
rs35119991
|
|
NM_001161352.2(KCNMA1):c.1223+72_1223+73del
|
rs35119991
|
|
NM_001161352.2(KCNMA1):c.123C>A (p.Ser41=)
|
rs1064797146
|
|
NM_001161352.2(KCNMA1):c.127T>A (p.Ser43Thr)
|
rs1057519135
|
|
NM_001161352.2(KCNMA1):c.1334+146G>A
|
rs12251114
|
|
NM_001161352.2(KCNMA1):c.1334+325C>A
|
rs142127442
|
|
NM_001161352.2(KCNMA1):c.1353G>A (p.Glu451=)
|
rs1595665771
|
|
NM_001161352.2(KCNMA1):c.1385A>T (p.Gln462Leu)
|
|
|
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del)
|
rs794726903
|
|
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.1440+2del
|
|
|
NM_001161352.2(KCNMA1):c.1441-10G>A
|
|
|
NM_001161352.2(KCNMA1):c.1441-114dup
|
rs34592624
|
|
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.1456G>A (p.Ala486Thr)
|
|
|
NM_001161352.2(KCNMA1):c.1483T>C (p.Cys495Arg)
|
|
|
NM_001161352.2(KCNMA1):c.1486G>T (p.Ala496Ser)
|
|
|
NM_001161352.2(KCNMA1):c.1498G>A (p.Ala500Thr)
|
|
|
NM_001161352.2(KCNMA1):c.156CTC[2] (p.Ser60del)
|
rs778736171
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[16]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[18]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[19]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[20]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[21]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1593+78AC[22]
|
rs68133946
|
|
NM_001161352.2(KCNMA1):c.1595C>T (p.Ala532Val)
|
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr)
|
rs974940310
|
|
NM_001161352.2(KCNMA1):c.1675A>G (p.Ile559Val)
|
|
|
NM_001161352.2(KCNMA1):c.1750-3T>C
|
rs369035808
|
|
NM_001161352.2(KCNMA1):c.1751T>C (p.Ile584Thr)
|
|
|
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro)
|
rs2093880726
|
|
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile)
|
rs1440636763
|
|
NM_001161352.2(KCNMA1):c.1860-215T>C
|
rs80068633
|
|
NM_001161352.2(KCNMA1):c.1870G>A (p.Val624Met)
|
rs2153527454
|
|
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg)
|
rs1555142864
|
|
NM_001161352.2(KCNMA1):c.1918C>T (p.Arg640Ter)
|
rs1407652513
|
|
NM_001161352.2(KCNMA1):c.1928+2563_1928+2582del
|
rs146836316
|
|
NM_001161352.2(KCNMA1):c.1928+2565_1928+2582del
|
rs199665732
|
|
NM_001161352.2(KCNMA1):c.1928+2567_1928+2582del
|
rs1326731759
|
|
NM_001161352.2(KCNMA1):c.1928+2575_1928+2582del
|
rs1234471076
|
|
NM_001161352.2(KCNMA1):c.1928+2577_1928+2582del
|
rs1275639354
|
|
NM_001161352.2(KCNMA1):c.1928+2580AC[4]
|
rs199865838
|
|
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=)
|
rs1064797145
|
|
NM_001161352.2(KCNMA1):c.1957A>G (p.Lys653Glu)
|
rs2153480907
|
|
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val)
|
rs2092522027
|
|
NM_001161352.2(KCNMA1):c.1989C>T (p.Ile663=)
|
rs201919794
|
|
NM_001161352.2(KCNMA1):c.1A>C (p.Met1Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val)
|
rs2153454278
|
|
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser)
|
rs2153454235
|
|
NM_001161352.2(KCNMA1):c.2092+3944_2092+3955del
|
rs67958938
|
|
NM_001161352.2(KCNMA1):c.2146C>T (p.Arg716Cys)
|
|
|
NM_001161352.2(KCNMA1):c.2266+206G>A
|
rs11001963
|
|
NM_001161352.2(KCNMA1):c.2266+213G>A
|
rs12263556
|
|
NM_001161352.2(KCNMA1):c.2267-263del
|
rs10563488
|
|
NM_001161352.2(KCNMA1):c.2267-264_2267-263del
|
rs10563488
|
|
NM_001161352.2(KCNMA1):c.2267-265_2267-263del
|
rs10563488
|
|
NM_001161352.2(KCNMA1):c.2267-266_2267-263del
|
rs10563488
|
|
NM_001161352.2(KCNMA1):c.2267-267_2267-263del
|
rs10563488
|
|
NM_001161352.2(KCNMA1):c.2267-7T>C
|
rs1592309833
|
|
NM_001161352.2(KCNMA1):c.2316T>C (p.Asn772=)
|
rs778997353
|
|
NM_001161352.2(KCNMA1):c.2326C>T (p.Arg776Trp)
|
|
|
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2360+133G>A
|
rs149898820
|
|
NM_001161352.2(KCNMA1):c.237C>G (p.Cys79Trp)
|
rs2154572129
|
|
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe)
|
rs2152988601
|
|
NM_001161352.2(KCNMA1):c.2476G>C (p.Val826Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2484+1659G>A
|
|
|
NM_001161352.2(KCNMA1):c.2484+1764G>A
|
|
|
NM_001161352.2(KCNMA1):c.24_56del (p.Gly10_Gly20del)
|
|
|
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)
|
rs199681253
|
|
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)
|
rs150678882
|
|
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys)
|
rs1591664697
|
|
NM_001161352.2(KCNMA1):c.2647A>G (p.Ile883Val)
|
|
|
NM_001161352.2(KCNMA1):c.2651A>T (p.Glu884Val)
|
|
|
NM_001161352.2(KCNMA1):c.2662C>T (p.Arg888Trp)
|
|
|
NM_001161352.2(KCNMA1):c.2663G>A (p.Arg888Gln)
|
|
|
NM_001161352.2(KCNMA1):c.2710-19dup
|
rs112408409
|
|
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro)
|
rs2152885532
|
|
NM_001161352.2(KCNMA1):c.27_37delinsTGGCGGCGGCGGCGGCGGCAGCA (p.Ser11_Gly13delinsGlyGlyGlyGlyGlySerSer)
|
|
|
NM_001161352.2(KCNMA1):c.2837C>T (p.Ala946Val)
|
|
|
NM_001161352.2(KCNMA1):c.2902G>T (p.Gly968Trp)
|
rs1064797144
|
|
NM_001161352.2(KCNMA1):c.2914C>T (p.Pro972Ser)
|
rs794727378
|
|
NM_001161352.2(KCNMA1):c.2986G>T (p.Gly996Trp)
|
rs2152435439
|
|
NM_001161352.2(KCNMA1):c.3002T>C (p.Ile1001Thr)
|
rs1590436024
|
|
NM_001161352.2(KCNMA1):c.3016+1119C>T
|
rs113649310
|
|
NM_001161352.2(KCNMA1):c.3016+73G>T
|
rs2288838
|
|
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
|
rs1163075445
|
|
NM_001161352.2(KCNMA1):c.3131A>G (p.Asp1044Gly)
|
rs2152363858
|
|
NM_001161352.2(KCNMA1):c.3147+8A>G
|
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup)
|
rs757636988
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup)
|
rs759136661
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del)
|
rs587780364
|
|
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
|
|
|
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
|
|
|
NM_001161352.2(KCNMA1):c.3280A>G (p.Asn1094Asp)
|
|
|
NM_001161352.2(KCNMA1):c.3334G>A (p.Asp1112Asn)
|
|
|
NM_001161352.2(KCNMA1):c.3347G>C (p.Gly1116Ala)
|
|
|
NM_001161352.2(KCNMA1):c.3353G>T (p.Cys1118Phe)
|
|
|
NM_001161352.2(KCNMA1):c.3387A>G (p.Thr1129=)
|
rs1589612030
|
|
NM_001161352.2(KCNMA1):c.3415C>T (p.Arg1139Trp)
|
rs2151798038
|
|
NM_001161352.2(KCNMA1):c.3425A>G (p.Asp1142Gly)
|
|
|
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile)
|
rs1253143924
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
|
|
|
NM_001161352.2(KCNMA1):c.34del (p.Ser12fs)
|
rs2154572205
|
|
NM_001161352.2(KCNMA1):c.3514A>G (p.Ile1172Val)
|
|
|
NM_001161352.2(KCNMA1):c.3514A>T (p.Ile1172Phe)
|
rs2037607195
|
|
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
|
|
|
NM_001161352.2(KCNMA1):c.3579C>T (p.Ser1193=)
|
|
|
NM_001161352.2(KCNMA1):c.358C>T (p.His120Tyr)
|
|
|
NM_001161352.2(KCNMA1):c.3625A>G (p.Ile1209Val)
|
|
|
NM_001161352.2(KCNMA1):c.3637G>A (p.Ala1213Thr)
|
rs2151705433
|
|
NM_001161352.2(KCNMA1):c.3653G>T (p.Arg1218Leu)
|
|
|
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly)
|
rs199766376
|
|
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp)
|
rs2093865429
|
|
NM_001161352.2(KCNMA1):c.369del (p.Lys124fs)
|
rs1603639319
|
|
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[5] (p.Gly19_Gly20del)
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.378+398C>A
|
rs2154571992
|
|
NM_001161352.2(KCNMA1):c.378+470A>G
|
rs2093792504
|
|
NM_001161352.2(KCNMA1):c.378+621del
|
rs35528388
|
|
NM_001161352.2(KCNMA1):c.378+767C>T
|
|
|
NM_001161352.2(KCNMA1):c.378+76G>T
|
rs112948235
|
|
NM_001161352.2(KCNMA1):c.378+792_378+793dup
|
rs2154571925
|
|
NM_001161352.2(KCNMA1):c.378+808C>A
|
rs116144703
|
|
NM_001161352.2(KCNMA1):c.378+878del
|
|
|
NM_001161352.2(KCNMA1):c.379-103A>G
|
rs11002158
|
|
NM_001161352.2(KCNMA1):c.379-86C>G
|
rs596832
|
|
NM_001161352.2(KCNMA1):c.379-89848G>A
|
|
|
NM_001161352.2(KCNMA1):c.37_63del (p.Gly13_Ser21del)
|
rs1555528536
|
|
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys)
|
rs767525618
|
|
NM_001161352.2(KCNMA1):c.412G>C (p.Ala138Pro)
|
|
|
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)
|
rs142858967
|
|
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
|
|
|
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr)
|
rs2096371289
|
|
NM_001161352.2(KCNMA1):c.527C>G (p.Thr176Ser)
|
rs2154465045
|
|
NM_001161352.2(KCNMA1):c.540+1G>A
|
rs2154465020
|
|
NM_001161352.2(KCNMA1):c.541-5T>C
|
|
|
NM_001161352.2(KCNMA1):c.585C>T (p.Tyr195=)
|
rs2154251763
|
|
NM_001161352.2(KCNMA1):c.66T>A (p.Ser22Arg)
|
rs2154572179
|
|
NM_001161352.2(KCNMA1):c.670T>C (p.Phe224Leu)
|
rs2154127757
|
|
NM_001161352.2(KCNMA1):c.681C>A (p.Leu227=)
|
rs1598199582
|
|
NM_001161352.2(KCNMA1):c.710A>G (p.Asn237Ser)
|
rs2154124882
|
|
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp)
|
rs1554841751
|
|
NM_001161352.2(KCNMA1):c.858G>T (p.Leu286Phe)
|
|
|
NM_001161352.2(KCNMA1):c.95A>T (p.Asn32Ile)
|
rs199570594
|
|