NM_021098.3(CACNA1H):c.5245-129_5245-128insT
|
rs11395347
|
0.98282
|
NM_021098.3(CACNA1H):c.6048+292T>C
|
rs7195608
|
0.87098
|
NM_021098.3(CACNA1H):c.6048+162T>C
|
rs4496143
|
0.85524
|
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)
|
rs4247094
|
0.85388
|
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)
|
rs8063574
|
0.85136
|
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=)
|
rs4984637
|
0.85027
|
NM_021098.3(CACNA1H):c.5244+127C>T
|
rs3897150
|
0.84380
|
NM_021098.3(CACNA1H):c.5324-263C>G
|
rs12930662
|
0.83778
|
NM_021098.3(CACNA1H):c.3064-39G>A
|
rs12930875
|
0.78233
|
NM_021098.3(CACNA1H):c.5887+107A>G
|
rs2738892
|
0.75440
|
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=)
|
rs2753325
|
0.65866
|
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=)
|
rs2753326
|
0.65842
|
NM_021098.3(CACNA1H):c.4350+83G>A
|
rs2738900
|
0.65766
|
NM_021098.3(CACNA1H):c.6049-241A>G
|
rs2745137
|
0.65098
|
NM_021098.3(CACNA1H):c.6049-301G>A
|
rs2738895
|
0.65073
|
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)
|
rs1054645
|
0.64981
|
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=)
|
rs2745136
|
0.64782
|
NM_021098.3(CACNA1H):c.*195G>A
|
rs2248457
|
0.64722
|
NM_021098.3(CACNA1H):c.4224-49G>A
|
rs2738899
|
0.64233
|
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)
|
rs2738893
|
0.63925
|
NM_021098.3(CACNA1H):c.4223+53C>T
|
rs2738898
|
0.62945
|
NM_021098.3(CACNA1H):c.4778-270G>A
|
rs2738903
|
0.54732
|
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=)
|
rs8044363
|
0.44103
|
NM_021098.3(CACNA1H):c.643+232A>C
|
rs1005453
|
0.43865
|
NM_021098.3(CACNA1H):c.1213-101G>A
|
rs8043905
|
0.43237
|
NM_021098.3(CACNA1H):c.2603+280T>C
|
rs2745167
|
0.43187
|
NM_021098.3(CACNA1H):c.300-85T>A
|
rs3751661
|
0.43048
|
NM_021098.3(CACNA1H):c.3745-308G>A
|
rs12051002
|
0.39673
|
NM_021098.3(CACNA1H):c.5244+261C>T
|
rs12920709
|
0.38661
|
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)
|
rs61734410
|
0.29755
|
NM_021098.3(CACNA1H):c.3846-16G>C
|
rs764918796
|
0.27517
|
NM_021098.3(CACNA1H):c.3846-32G>C
|
rs776363640
|
0.26069
|
NM_021098.3(CACNA1H):c.412-139G>A
|
rs35250176
|
0.22699
|
NM_021098.3(CACNA1H):c.2451+119T>C
|
rs11640345
|
0.22422
|
NM_021098.3(CACNA1H):c.2604-272C>T
|
rs35482321
|
0.22131
|
NM_021098.3(CACNA1H):c.300-341C>T
|
rs35198836
|
0.21842
|
NM_021098.3(CACNA1H):c.3846-27A>C
|
rs768865795
|
0.20436
|
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala)
|
rs4984636
|
0.20272
|
NM_021098.3(CACNA1H):c.3155-73T>C
|
rs2738896
|
0.19817
|
NM_021098.3(CACNA1H):c.2002+285G>C
|
rs7191246
|
0.18750
|
NM_021098.3(CACNA1H):c.2452-323C>T
|
rs71384633
|
0.16538
|
NM_021098.3(CACNA1H):c.644-244C>T
|
rs11643076
|
0.16370
|
NM_021098.3(CACNA1H):c.2790-162T>C
|
rs115172853
|
0.13061
|
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val)
|
rs36117280
|
0.12769
|
NM_021098.3(CACNA1H):c.5244+7G>A
|
rs2235634
|
0.10432
|
NM_021098.3(CACNA1H):c.644-301C>G
|
rs35907934
|
0.10221
|
NM_021098.3(CACNA1H):c.803+116C>T
|
rs35395847
|
0.10188
|
NM_021098.3(CACNA1H):c.2603+125C>T
|
rs2745165
|
0.10144
|
NM_021098.3(CACNA1H):c.804-283del
|
rs34191558
|
0.10087
|
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)
|
rs9922076
|
0.09939
|
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)
|
rs2407083
|
0.09922
|
NM_021098.3(CACNA1H):c.803+163C>T
|
rs7500621
|
0.09467
|
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=)
|
rs61910714
|
0.09043
|
NM_021098.3(CACNA1H):c.*101C>T
|
rs2745138
|
0.08983
|
NM_021098.3(CACNA1H):c.6048+182C>T
|
rs2738894
|
0.08972
|
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=)
|
rs2738891
|
0.08967
|
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His)
|
rs1054644
|
0.08945
|
NM_021098.3(CACNA1H):c.5244+28G>A
|
rs2753322
|
0.08924
|
NM_021098.3(CACNA1H):c.5245-256G>A
|
rs2753324
|
0.08840
|
NM_021098.3(CACNA1H):c.3744+44G>C
|
rs2745166
|
0.08697
|
NM_021098.3(CACNA1H):c.2604-19C>T
|
rs11646893
|
0.07745
|
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)
|
rs3751664
|
0.07491
|
NM_021098.3(CACNA1H):c.3064-136C>T
|
rs2745155
|
0.07369
|
NM_021098.3(CACNA1H):c.2452-293C>T
|
rs71384634
|
0.07300
|
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=)
|
rs3751889
|
0.05412
|
NM_021098.3(CACNA1H):c.412-71C>T
|
rs59721152
|
0.05324
|
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly)
|
rs3751886
|
0.05247
|
NM_021098.3(CACNA1H):c.5888-141G>A
|
rs11866966
|
0.05113
|
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=)
|
rs57135930
|
0.04916
|
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys)
|
rs72552056
|
0.04911
|
NM_021098.3(CACNA1H):c.2790-99C>G
|
rs118070675
|
0.04775
|
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=)
|
rs60526088
|
0.04674
|
NM_021098.3(CACNA1H):c.6048+53A>G
|
rs72552058
|
0.04593
|
NM_021098.3(CACNA1H):c.4930-270C>T
|
rs72775449
|
0.04590
|
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=)
|
rs28365124
|
0.04584
|
NM_021098.3(CACNA1H):c.5245-203A>G
|
rs67263891
|
0.04584
|
NM_021098.3(CACNA1H):c.5245-245G>A
|
rs112734714
|
0.04462
|
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln)
|
rs58124832
|
0.04404
|
NM_021098.3(CACNA1H):c.3969+35C>T
|
rs111903030
|
0.04234
|
NM_021098.3(CACNA1H):c.644-88C>T
|
rs34873336
|
0.03822
|
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=)
|
rs59794024
|
0.03762
|
NM_021098.3(CACNA1H):c.5244+298G>A
|
rs71380250
|
0.03734
|
NM_021098.3(CACNA1H):c.3363+91G>A
|
rs72552035
|
0.03400
|
NM_021098.3(CACNA1H):c.6048+13G>A
|
rs3751888
|
0.03131
|
NM_021098.3(CACNA1H):c.804-160C>G
|
rs114319122
|
0.02445
|
NM_021098.3(CACNA1H):c.4476+30G>T
|
rs72552044
|
0.02050
|
NM_021098.3(CACNA1H):c.3364-104A>G
|
rs112741452
|
0.01783
|
NM_021098.3(CACNA1H):c.411+40G>A
|
rs72556375
|
0.01722
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)
|
rs191613214
|
0.01279
|
NM_021098.3(CACNA1H):c.5245-191G>C
|
rs72552047
|
0.01151
|
NM_021098.3(CACNA1H):c.4350+35G>A
|
rs12449100
|
0.01111
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_021098.3(CACNA1H):c.2452-31C>T
|
rs72775445
|
0.00897
|
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)
|
rs58110336
|
0.00885
|
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=)
|
rs61394370
|
0.00768
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu)
|
rs59935412
|
0.00605
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)
|
rs57112868
|
0.00508
|
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)
|
rs60720455
|
0.00507
|
NM_021098.3(CACNA1H):c.4038+41C>T
|
rs61701475
|
0.00491
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00318
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr)
|
rs59487037
|
0.00237
|
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=)
|
rs58212659
|
0.00220
|
NM_021098.3(CACNA1H):c.*10T>A
|
rs59336915
|
0.00202
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val)
|
rs58535913
|
0.00170
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)
|
rs59052554
|
0.00164
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His)
|
rs56885166
|
0.00136
|
NM_021098.3(CACNA1H):c.4778-5C>T
|
rs72552061
|
0.00130
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00109
|
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser)
|
rs187596702
|
0.00107
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00086
|
NM_021098.3(CACNA1H):c.3364-3C>T
|
rs57079020
|
0.00086
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=)
|
rs200569619
|
0.00080
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=)
|
rs111986908
|
0.00058
|
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=)
|
rs375020212
|
0.00048
|
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=)
|
rs57670193
|
0.00041
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00036
|
NM_021098.3(CACNA1H):c.3970-5G>A
|
rs202115678
|
0.00036
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser)
|
rs200675829
|
0.00024
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)
|
rs372529098
|
0.00013
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=)
|
rs201270662
|
0.00006
|
GRCh37/hg19 16p13.3(chr16:1234842-1246270)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:1235409-1250559)x1
|
|
|
GRCh37/hg19 16p13.3(chr16:1251760-1255545)x4
|
|
|
NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1]
|
rs1339556967
|
|
NM_021098.3(CACNA1H):c.1212+12C>T
|
rs8060577
|
|
NM_021098.3(CACNA1H):c.1213-183T>G
|
rs76029271
|
|
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser)
|
rs59079584
|
|
NM_021098.3(CACNA1H):c.2002+147C>T
|
rs9924677
|
|
NM_021098.3(CACNA1H):c.2003-103G>T
|
rs4984768
|
|
NM_021098.3(CACNA1H):c.2003-279C>T
|
rs75852667
|
|
NM_021098.3(CACNA1H):c.2452-153_2452-70del
|
rs1567522322
|
|
NM_021098.3(CACNA1H):c.2452-84A>G
|
rs2974835
|
|
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2604-219A>G
|
rs8049080
|
|
NM_021098.3(CACNA1H):c.2604-88C>A
|
rs117673391
|
|
NM_021098.3(CACNA1H):c.299+20_299+40del
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+80A>G
|
rs112034409
|
|
NM_021098.3(CACNA1H):c.300-95G>A
|
rs9936834
|
|
NM_021098.3(CACNA1H):c.3363+129A>T
|
|
|
NM_021098.3(CACNA1H):c.3363+201C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+293G>A
|
|
|
NM_021098.3(CACNA1H):c.3745-289G>A
|
rs8049748
|
|
NM_021098.3(CACNA1H):c.3846-20A>C
|
rs773276537
|
|
NM_021098.3(CACNA1H):c.3846-24T>C
|
rs768109411
|
|
NM_021098.3(CACNA1H):c.4224-82C>A
|
rs72552038
|
|
NM_021098.3(CACNA1H):c.4759+172C>A
|
rs111255867
|
|
NM_021098.3(CACNA1H):c.4778-275G>T
|
rs118038000
|
|
NM_021098.3(CACNA1H):c.4778-311A>G
|
rs9328916
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
NM_021098.3(CACNA1H):c.6049-189_6049-188del
|
rs3833847
|
|
NM_021098.3(CACNA1H):c.643+188G>A
|
rs3738077
|
|
NM_021098.3(CACNA1H):c.643+247A>G
|
rs1005454
|
|
NM_021098.3(CACNA1H):c.644-241G>C
|
rs34569984
|
|
NM_021098.3(CACNA1H):c.803+178A>C
|
rs190211190
|
|