ClinVar Miner

List of variants in gene CACNA1H studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 668
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.4039-20G>A rs2738897 0.53797
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=) rs9934839 0.50649
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.3846-6A>C rs780882373 0.14047
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.2603+12C>T rs2745150 0.10774
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.2452-281C>T rs71384635 0.03805
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.803+279C>T rs191117454 0.03009
NM_021098.3(CACNA1H):c.2452-154_2452-153insA rs1344722130 0.02778
NM_021098.3(CACNA1H):c.804-160C>G rs114319122 0.02445
NM_021098.3(CACNA1H):c.2003-261C>T rs144819637 0.02315
NM_021098.3(CACNA1H):c.4476+30G>T rs72552044 0.02050
NM_021098.3(CACNA1H):c.4929+78T>C rs72552062 0.02035
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.4778-118G>T rs112290002 0.01606
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.1212+23G>A rs60309396 0.01525
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_021098.3(CACNA1H):c.3064-72G>A rs57335218 0.01439
NM_021098.3(CACNA1H):c.411+151G>A rs9939215 0.01374
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.2452-324_2452-323insTAGAT rs1567522075 0.01344
NM_021098.3(CACNA1H):c.546-10C>T rs35509671 0.01282
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214 0.01279
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
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.4777+182A>G rs60416573 0.01090
NM_021098.3(CACNA1H):c.5173+37G>A rs200739898 0.00998
NM_021098.3(CACNA1H):c.3364-196G>A rs144298575 0.00972
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_021098.3(CACNA1H):c.6049-72G>A rs114708863 0.00955
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.4929+18G>A rs59548273 0.00873
NM_021098.3(CACNA1H):c.2603+35C>T rs28365120 0.00862
NM_021098.3(CACNA1H):c.643+44G>A rs35907691 0.00851
NM_021098.3(CACNA1H):c.3364-52G>A rs12918216 0.00813
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=) rs58142268 0.00792
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=) rs61394370 0.00768
NM_021098.3(CACNA1H):c.2603+262G>A rs143249487 0.00765
NM_021098.3(CACNA1H):c.299+14C>G rs539924701 0.00740
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys) rs60414549 0.00678
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_021098.3(CACNA1H):c.644-87G>A rs116326670 0.00664
NM_021098.3(CACNA1H):c.803+68A>G rs140638186 0.00663
NM_021098.3(CACNA1H):c.5323+234A>G rs114380660 0.00646
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.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676 0.00591
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
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.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.4038+41C>T rs61701475 0.00491
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=) rs58764017 0.00488
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.4038+12C>T rs370831984 0.00414
NM_021098.3(CACNA1H):c.2789+26G>A rs377181514 0.00410
NM_021098.3(CACNA1H):c.5173+10C>T rs72554026 0.00407
NM_021098.3(CACNA1H):c.2002+164G>C rs116250967 0.00403
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.546-142C>T rs148444212 0.00390
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_021098.3(CACNA1H):c.804-70A>G rs114858281 0.00386
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg) rs59529743 0.00364
NM_021098.3(CACNA1H):c.411+83G>A rs532984461 0.00360
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.108G>C (p.Pro36=) rs28365126 0.00241
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) rs59487037 0.00237
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=) rs58212659 0.00220
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
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.4778-14C>T rs374784679 0.00185
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.6848A>T (p.Asp2283Val) rs58597457 0.00137
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.2434G>A (p.Val812Met) rs28365119 0.00128
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr) rs56930660 0.00126
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00117
NM_021098.3(CACNA1H):c.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.2368G>A (p.Val790Met) rs28365116 0.00071
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.817A>T (p.Thr273Ser) rs58386301 0.00068
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=) rs111986908 0.00058
NM_021098.3(CACNA1H):c.299+20G>T rs1291334132 0.00058
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu) rs200832286 0.00054
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=) rs749735503 0.00049
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) rs201009269 0.00045
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=) rs142856193 0.00043
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.809A>C (p.Asn270Thr) rs200520956 0.00036
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346 0.00030
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val) rs538959856 0.00029
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln) rs59461207 0.00027
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) rs568224207 0.00026
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) rs774660673 0.00025
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684 0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser) rs200675829 0.00024
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=) rs61543423 0.00023
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln) rs370088144 0.00021
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys) rs755817927 0.00021
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=) rs56816479 0.00021
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=) rs373830807 0.00021
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His) rs201651793 0.00021
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135 0.00020
NM_021098.3(CACNA1H):c.2216G>A (p.Arg739His) rs372759314 0.00019
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417 0.00019
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.1047G>A (p.Ser349=) rs72552034 0.00016
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=) rs777641943 0.00016
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His) rs545918011 0.00012
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=) rs773501953 0.00012
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val) rs72552053 0.00012
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=) rs369322856 0.00011
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=) rs370035989 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.3988G>A (p.Val1330Ile) rs28365125 0.00010
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr) rs202090928 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu) rs771714007 0.00009
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931 0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154 0.00009
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.2937C>G (p.Val979=) rs770074317 0.00007
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn) rs748648178 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.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970 0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) rs200400235 0.00006
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr) rs374297889 0.00006
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln) rs149367557 0.00006
NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=) rs112395878 0.00006
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=) rs534503991 0.00006
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205 0.00006
NM_021098.3(CACNA1H):c.5622G>A (p.Ala1874=) rs765687202 0.00006
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=) rs765457704 0.00006
NM_021098.3(CACNA1H):c.6001C>T (p.Arg2001Trp) rs763114755 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=) rs960225573 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.3155-4G>A rs543267343 0.00005
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) rs373762102 0.00005
NM_021098.3(CACNA1H):c.5823G>A (p.Ser1941=) rs377279064 0.00005
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu) rs748432349 0.00005
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) rs768565046 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.2568G>A (p.Pro856=) rs372206587 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn) rs372126787 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.4365G>A (p.Lys1455=) rs373587418 0.00004
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met) rs369045626 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021098.3(CACNA1H):c.4759+19C>T rs757614403 0.00004
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser) rs946594196 0.00004
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His) rs747789914 0.00004
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr) rs61372944 0.00004
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=) rs398124369 0.00004
NM_021098.3(CACNA1H):c.908C>T (p.Ser303Leu) rs867008505 0.00004
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val) rs759349379 0.00003
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg) rs761785619 0.00003
NM_021098.3(CACNA1H):c.2208C>T (p.His736=) rs376616017 0.00003
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr) rs747121461 0.00003
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys) rs762653776 0.00003
NM_021098.3(CACNA1H):c.2662C>A (p.Leu888Met) rs868696475 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=) rs368155283 0.00003
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326 0.00003
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu) rs571145188 0.00003
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=) rs771718484 0.00003
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) rs780870706 0.00003
NM_021098.3(CACNA1H):c.6713C>T (p.Ser2238Leu) rs774045741 0.00003
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser) rs200943355 0.00003
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=) rs779012601 0.00003
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val) rs1433384279 0.00002
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn) rs977157885 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln) rs557125328 0.00002
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys) rs776740325 0.00002
NM_021098.3(CACNA1H):c.3930C>A (p.Thr1310=) rs1045330600 0.00002
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val) rs775456399 0.00002
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=) rs375199752 0.00002
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=) rs763776082 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser) rs748564400 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.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg) rs1171167857 0.00001
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys) rs757422637 0.00001
NM_021098.3(CACNA1H):c.1127C>T (p.Thr376Met) rs758285252 0.00001
NM_021098.3(CACNA1H):c.1171C>T (p.His391Tyr) rs1401713017 0.00001
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=) rs751828544 0.00001
NM_021098.3(CACNA1H):c.1452C>T (p.Ser484=) rs1477464961 0.00001
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu) rs1481524583 0.00001
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys) rs761025927 0.00001
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr) rs1056058034 0.00001
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=) rs769960413 0.00001
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys) rs772141645 0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met) rs779476529 0.00001
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 0.00001
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575 0.00001
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val) rs1216897674 0.00001
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala) rs1051410307 0.00001
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val) rs779724136 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.3019T>C (p.Phe1007Leu) rs764517695 0.00001
NM_021098.3(CACNA1H):c.3241G>A (p.Ala1081Thr) rs1330404120 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp) rs1399681066 0.00001
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val) rs774604155 0.00001
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464 0.00001
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe) rs1969297546 0.00001
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=) rs929332183 0.00001
NM_021098.3(CACNA1H):c.4039-8C>T rs757467258 0.00001
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg) rs867556563 0.00001
NM_021098.3(CACNA1H):c.4145C>T (p.Ala1382Val) rs566220434 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.4288A>T (p.Ile1430Phe) rs776156272 0.00001
NM_021098.3(CACNA1H):c.4423G>C (p.Ala1475Pro) rs1344413563 0.00001
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=) rs986374718 0.00001
NM_021098.3(CACNA1H):c.4586C>T (p.Pro1529Leu) rs1057522839 0.00001
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) rs786205050 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4760-5T>A rs1474686670 0.00001
NM_021098.3(CACNA1H):c.4780G>T (p.Ala1594Ser) rs532865207 0.00001
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971 0.00001
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp) rs899082537 0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467 0.00001
NM_021098.3(CACNA1H):c.5791A>T (p.Ser1931Cys) rs777593105 0.00001
NM_021098.3(CACNA1H):c.5905C>T (p.His1969Tyr) rs773386277 0.00001
NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu) rs759924732 0.00001
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu) rs372453886 0.00001
NM_021098.3(CACNA1H):c.6530C>T (p.Pro2177Leu) rs774592173 0.00001
NM_021098.3(CACNA1H):c.657G>C (p.Leu219=) rs376669194 0.00001
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=) rs993061665 0.00001
NM_021098.3(CACNA1H):c.738C>T (p.Ile246=) rs762427859 0.00001
NM_021098.3(CACNA1H):c.803+19C>T rs538938996 0.00001
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser) rs201911360 0.00001
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe) rs1443348691 0.00001
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp) rs747326278 0.00001
GRCh37/hg19 16p13.3(chr16:1162715-1236516)x1
NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1] rs1339556967
NM_021098.3(CACNA1H):c.1016A>G (p.Asn339Ser)
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys) rs753307543
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)
NM_021098.3(CACNA1H):c.1120-5C>G rs188397970
NM_021098.3(CACNA1H):c.1142T>G (p.Val381Gly) rs932024389
NM_021098.3(CACNA1H):c.1179C>G (p.Phe393Leu)
NM_021098.3(CACNA1H):c.1200C>G (p.Ile400Met)
NM_021098.3(CACNA1H):c.1212+12C>T rs8060577
NM_021098.3(CACNA1H):c.1213-183T>G rs76029271
NM_021098.3(CACNA1H):c.1220C>T (p.Ser407Phe) rs1326944134
NM_021098.3(CACNA1H):c.1222T>C (p.Phe408Leu)
NM_021098.3(CACNA1H):c.1225T>G (p.Phe409Val)
NM_021098.3(CACNA1H):c.1226T>A (p.Phe409Tyr) rs1596407952
NM_021098.3(CACNA1H):c.1236C>A (p.Asn412Lys)
NM_021098.3(CACNA1H):c.1241G>A (p.Cys414Tyr) rs781525428
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1295T>G (p.Leu432Arg)
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser) rs771750212
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp)
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn) rs1041969243
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
NM_021098.3(CACNA1H):c.1396C>T (p.His466Tyr)
NM_021098.3(CACNA1H):c.1462A>G (p.Lys488Glu)
NM_021098.3(CACNA1H):c.1565A>G (p.His522Arg) rs1967991363
NM_021098.3(CACNA1H):c.1567CAC[9] (p.His528_Tyr529insHisHisHis)
NM_021098.3(CACNA1H):c.1569C>G (p.His523Gln)
NM_021098.3(CACNA1H):c.1605C>T (p.Ser535=)
NM_021098.3(CACNA1H):c.1609_1617del (p.Arg537_Pro539del) rs2141258642
NM_021098.3(CACNA1H):c.1671dup (p.Ser558fs)
NM_021098.3(CACNA1H):c.172C>G (p.Arg58Gly)
NM_021098.3(CACNA1H):c.1748A>G (p.Glu583Gly)
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs) rs2141260547
NM_021098.3(CACNA1H):c.1781C>T (p.Ala594Val)
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1793C>T (p.Ala598Val) rs1057518033
NM_021098.3(CACNA1H):c.183G>C (p.Glu61Asp)
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
NM_021098.3(CACNA1H):c.1856C>G (p.Ser619Ter) rs1272295205
NM_021098.3(CACNA1H):c.1906T>C (p.Trp636Arg)
NM_021098.3(CACNA1H):c.1934_1935delinsT (p.Gly645fs)
NM_021098.3(CACNA1H):c.1956C>G (p.Asn652Lys)
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser) rs59079584
NM_021098.3(CACNA1H):c.1969T>C (p.Tyr657His)
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del) rs753052647
NM_021098.3(CACNA1H):c.1977G>A (p.Lys659=)
NM_021098.3(CACNA1H):c.1988T>C (p.Val663Ala) rs1401991327
NM_021098.3(CACNA1H):c.1997A>T (p.Glu666Val) rs926633519
NM_021098.3(CACNA1H):c.2002+147C>T rs9924677
NM_021098.3(CACNA1H):c.2002+67T>C rs115952318
NM_021098.3(CACNA1H):c.2003-103G>T rs4984768
NM_021098.3(CACNA1H):c.2003-279C>T rs75852667
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser) rs1057520145
NM_021098.3(CACNA1H):c.2041G>T (p.Val681Leu) rs1347965086
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro) rs2141277907
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=) rs554718345
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) rs2141277985
NM_021098.3(CACNA1H):c.2139G>C (p.Glu713Asp)
NM_021098.3(CACNA1H):c.2146G>T (p.Gly716Cys) rs187225648
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala) rs538923520
NM_021098.3(CACNA1H):c.2173_2178del (p.Arg725_Gly726del)
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.2210G>C (p.Gly737Ala)
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.226G>A (p.Ala76Thr) rs1555498216
NM_021098.3(CACNA1H):c.2299G>A (p.Ala767Thr)
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys) rs1473122688
NM_021098.3(CACNA1H):c.2371G>T (p.Asp791Tyr) rs2141281388
NM_021098.3(CACNA1H):c.2405C>G (p.Ala802Gly) rs781441262
NM_021098.3(CACNA1H):c.2420C>A (p.Thr807Lys)
NM_021098.3(CACNA1H):c.2426G>A (p.Ser809Asn) rs2141281981
NM_021098.3(CACNA1H):c.2451+105C>T rs116880320
NM_021098.3(CACNA1H):c.2451+177G>A
NM_021098.3(CACNA1H):c.2452-153_2452-70del rs1567522322
NM_021098.3(CACNA1H):c.2452-321_2452-320insTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAG rs1567522091
NM_021098.3(CACNA1H):c.2452-84A>G rs2974835
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro) rs2141288117
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser) rs369356684
NM_021098.3(CACNA1H):c.2474T>G (p.Leu825Arg)
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.2547T>C (p.Pro849=) rs1242284062
NM_021098.3(CACNA1H):c.2573A>T (p.Asn858Ile) rs1387448449
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys) rs747426357
NM_021098.3(CACNA1H):c.2604-219A>G rs8049080
NM_021098.3(CACNA1H):c.2604-88C>A rs117673391
NM_021098.3(CACNA1H):c.2629G>A (p.Asp877Asn)
NM_021098.3(CACNA1H):c.2780T>C (p.Phe927Ser) rs2141298140
NM_021098.3(CACNA1H):c.283C>G (p.Arg95Gly)
NM_021098.3(CACNA1H):c.2876C>T (p.Ser959Phe) rs1390579046
NM_021098.3(CACNA1H):c.2907+1G>A
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=) rs371675943
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
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.3004G>A (p.Gly1002Ser) rs2141308474
NM_021098.3(CACNA1H):c.3004G>C (p.Gly1002Arg)
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=)
NM_021098.3(CACNA1H):c.3086C>G (p.Thr1029Arg)
NM_021098.3(CACNA1H):c.3090C>A (p.Asp1030Glu)
NM_021098.3(CACNA1H):c.3106G>T (p.Val1036Phe)
NM_021098.3(CACNA1H):c.3154+12C>T rs779364761
NM_021098.3(CACNA1H):c.3154+5G>C rs764360814
NM_021098.3(CACNA1H):c.3155-64T>C
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met) rs369966669
NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu)
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile) rs772383239
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=) rs201113434
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3343C>G (p.Leu1115Val)
NM_021098.3(CACNA1H):c.3352C>A (p.Gln1118Lys) rs1215469090
NM_021098.3(CACNA1H):c.3362C>G (p.Pro1121Arg) rs200832286
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.339C>T (p.Asn113=)
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup) rs746597383
NM_021098.3(CACNA1H):c.3452C>G (p.Ala1151Gly)
NM_021098.3(CACNA1H):c.3454C>G (p.Pro1152Ala) rs2141326397
NM_021098.3(CACNA1H):c.3477G>C (p.Gln1159His)
NM_021098.3(CACNA1H):c.3487C>T (p.Arg1163Cys)
NM_021098.3(CACNA1H):c.3498G>A (p.Leu1166=) rs768056172
NM_021098.3(CACNA1H):c.3509A>G (p.Glu1170Gly)
NM_021098.3(CACNA1H):c.3536C>G (p.Ala1179Gly)
NM_021098.3(CACNA1H):c.3555G>C (p.Ala1185=) rs370039255
NM_021098.3(CACNA1H):c.3598G>A (p.Asp1200Asn)
NM_021098.3(CACNA1H):c.360C>G (p.Phe120Leu)
NM_021098.3(CACNA1H):c.361C>T (p.Arg121Trp)
NM_021098.3(CACNA1H):c.3632C>T (p.Pro1211Leu)
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3691C>G (p.Arg1231Gly)
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro) rs1969157452
NM_021098.3(CACNA1H):c.3744+190C>A rs8050803
NM_021098.3(CACNA1H):c.3744+197C>T
NM_021098.3(CACNA1H):c.3745-14G>T rs8056494
NM_021098.3(CACNA1H):c.3745-289G>A rs8049748
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.382T>G (p.Cys128Gly) rs1057523118
NM_021098.3(CACNA1H):c.3836C>T (p.Pro1279Leu)
NM_021098.3(CACNA1H):c.3846-10G>C rs377030217
NM_021098.3(CACNA1H):c.3846-20A>C rs773276537
NM_021098.3(CACNA1H):c.3846-24T>C rs768109411
NM_021098.3(CACNA1H):c.384C>G (p.Cys128Trp)
NM_021098.3(CACNA1H):c.3852C>A (p.Arg1284=) rs374262237
NM_021098.3(CACNA1H):c.3864G>A (p.Gln1288=)
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
NM_021098.3(CACNA1H):c.3936C>T (p.Ala1312=)
NM_021098.3(CACNA1H):c.3969+1G>A rs1303395495
NM_021098.3(CACNA1H):c.4013T>C (p.Ile1338Thr)
NM_021098.3(CACNA1H):c.4028T>C (p.Met1343Thr) rs1377984024
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021098.3(CACNA1H):c.4039-10C>A rs764056510
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser) rs1270361787
NM_021098.3(CACNA1H):c.412-5C>G rs577701046
NM_021098.3(CACNA1H):c.4148T>C (p.Met1383Thr)
NM_021098.3(CACNA1H):c.4224-82C>A rs72552038
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
NM_021098.3(CACNA1H):c.4390A>T (p.Thr1464Ser) rs1969448609
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr) rs1966873069
NM_021098.3(CACNA1H):c.4448G>C (p.Arg1483Pro)
NM_021098.3(CACNA1H):c.4484T>A (p.Met1495Lys) rs1131691843
NM_021098.3(CACNA1H):c.4485G>A (p.Met1495Ile) rs2141350000
NM_021098.3(CACNA1H):c.4492T>C (p.Phe1498Leu)
NM_021098.3(CACNA1H):c.4525A>C (p.Ile1509Leu)
NM_021098.3(CACNA1H):c.4528_4536delinsCTT (p.Met1510_Asp1512delinsLeu)
NM_021098.3(CACNA1H):c.4567-2A>G
NM_021098.3(CACNA1H):c.4586C>G (p.Pro1529Arg)
NM_021098.3(CACNA1H):c.4605C>T (p.Phe1535=)
NM_021098.3(CACNA1H):c.4632C>A (p.Phe1544Leu) rs775010247
NM_021098.3(CACNA1H):c.4651G>T (p.Val1551Leu) rs369045626
NM_021098.3(CACNA1H):c.4707G>C (p.Glu1569Asp)
NM_021098.3(CACNA1H):c.4708G>A (p.Ala1570Thr)
NM_021098.3(CACNA1H):c.470C>T (p.Ala157Val)
NM_021098.3(CACNA1H):c.4742T>G (p.Leu1581Arg) rs763158238
NM_021098.3(CACNA1H):c.4759+172C>A rs111255867
NM_021098.3(CACNA1H):c.4768C>G (p.Pro1590Ala)
NM_021098.3(CACNA1H):c.4777+1G>T
NM_021098.3(CACNA1H):c.4778-275G>T rs118038000
NM_021098.3(CACNA1H):c.4778-311A>G rs9328916
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4789C>G (p.Arg1597Gly)
NM_021098.3(CACNA1H):c.4799A>G (p.Tyr1600Cys) rs1969738079
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=) rs559982155
NM_021098.3(CACNA1H):c.4842C>A (p.Cys1614Ter) rs1427804663
NM_021098.3(CACNA1H):c.4855C>T (p.Leu1619Phe) rs1064796794
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) rs1596466547
NM_021098.3(CACNA1H):c.4929+8C>A rs59027578
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.4981G>T (p.Val1661Phe)
NM_021098.3(CACNA1H):c.5024G>T (p.Arg1675Leu)
NM_021098.3(CACNA1H):c.5071C>A (p.Leu1691Met)
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5165T>G (p.Ile1722Ser)
NM_021098.3(CACNA1H):c.5187G>A (p.Leu1729=) rs752668013
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys) rs750143885
NM_021098.3(CACNA1H):c.5224G>A (p.Val1742Met)
NM_021098.3(CACNA1H):c.5230C>G (p.Gln1744Glu) rs1435317657
NM_021098.3(CACNA1H):c.5249G>A (p.Gly1750Glu)
NM_021098.3(CACNA1H):c.5264T>C (p.Leu1755Pro)
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
NM_021098.3(CACNA1H):c.5282T>C (p.Phe1761Ser)
NM_021098.3(CACNA1H):c.5288A>G (p.Tyr1763Cys) rs2141386055
NM_021098.3(CACNA1H):c.5323+15C>T
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile) rs1439949443
NM_021098.3(CACNA1H):c.5361G>T (p.Arg1787Ser)
NM_021098.3(CACNA1H):c.5368A>T (p.Thr1790Ser)
NM_021098.3(CACNA1H):c.5408G>A (p.Arg1803His)
NM_021098.3(CACNA1H):c.5446-1G>A
NM_021098.3(CACNA1H):c.5446-9C>A rs1596475466
NM_021098.3(CACNA1H):c.546-2delinsCG
NM_021098.3(CACNA1H):c.5477A>G (p.Lys1826Arg)
NM_021098.3(CACNA1H):c.5563G>A (p.Val1855Met)
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
NM_021098.3(CACNA1H):c.5579T>C (p.Met1860Thr)
NM_021098.3(CACNA1H):c.5612G>T (p.Arg1871Leu) rs58124832
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe) rs369689966
NM_021098.3(CACNA1H):c.5670T>A (p.Ser1890Arg) rs1555520259
NM_021098.3(CACNA1H):c.5675G>A (p.Arg1892His) rs58667649
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu) rs58667649
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.5916C>G (p.Pro1972=) rs979429805
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6049-189_6049-188del rs3833847
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His) rs777897759
NM_021098.3(CACNA1H):c.6299A>T (p.Glu2100Val) rs2141408068
NM_021098.3(CACNA1H):c.6300G>T (p.Glu2100Asp)
NM_021098.3(CACNA1H):c.6339C>A (p.Pro2113=) rs768959857
NM_021098.3(CACNA1H):c.6348G>T (p.Glu2116Asp)
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.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.644-56C>T rs35181617
NM_021098.3(CACNA1H):c.6528G>T (p.Glu2176Asp)
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
NM_021098.3(CACNA1H):c.6548G>A (p.Arg2183Lys)
NM_021098.3(CACNA1H):c.6570del (p.Cys2191fs) rs760298114
NM_021098.3(CACNA1H):c.6571T>C (p.Cys2191Arg) rs1970398720
NM_021098.3(CACNA1H):c.6578C>G (p.Ser2193Trp)
NM_021098.3(CACNA1H):c.6598G>A (p.Asp2200Asn)
NM_021098.3(CACNA1H):c.6679C>T (p.Pro2227Ser)
NM_021098.3(CACNA1H):c.6713C>G (p.Ser2238Ter) rs774045741
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=) rs58682447
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs) rs753624103
NM_021098.3(CACNA1H):c.6791C>G (p.Pro2264Arg)
NM_021098.3(CACNA1H):c.683C>T (p.Pro228Leu)
NM_021098.3(CACNA1H):c.6851del (p.Gly2284fs)
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
NM_021098.3(CACNA1H):c.697G>A (p.Val233Ile)
NM_021098.3(CACNA1H):c.697G>C (p.Val233Leu) rs1555510028
NM_021098.3(CACNA1H):c.6993T>C (p.Cys2331=) rs1555521325
NM_021098.3(CACNA1H):c.6995C>A (p.Pro2332His)
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu) rs759417643
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile) rs1970440739
NM_021098.3(CACNA1H):c.703CTG[1] (p.Leu236del)
NM_021098.3(CACNA1H):c.742G>A (p.Gly248Ser) rs1967303599
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702
NM_021098.3(CACNA1H):c.775C>T (p.Arg259Cys)
NM_021098.3(CACNA1H):c.803+178A>C rs190211190
NM_021098.3(CACNA1H):c.803+187C>G rs183628037
NM_021098.3(CACNA1H):c.804-198C>T
NM_021098.3(CACNA1H):c.804-50C>T rs72552031
NM_021098.3(CACNA1H):c.859A>G (p.Asn287Asp) rs753361068
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro) rs2141242222
NM_021098.3(CACNA1H):c.888C>A (p.Asp296Glu)
NM_021098.3(CACNA1H):c.923G>C (p.Arg308Pro)
NM_021098.3(CACNA1H):c.952G>A (p.Gly318Ser) rs1555511075
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043

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