ClinVar Miner

List of variants studied for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV by Invitae

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ClinVar version:
Total variants: 347
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HGVS dbSNP
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His) rs964941206
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=) rs375894182
NM_021098.3(CACNA1H):c.1041C>T (p.Cys347=) rs757510335
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=) rs369894677
NM_021098.3(CACNA1H):c.1119+6C>T
NM_021098.3(CACNA1H):c.1120-3C>T
NM_021098.3(CACNA1H):c.1120-5C>G rs188397970
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981
NM_021098.3(CACNA1H):c.1129C>T (p.Leu377=) rs529122240
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=)
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn) rs375121203
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg) rs770983743
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
NM_021098.3(CACNA1H):c.1286_1287AG[1] (p.Gln431fs)
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met) rs61910721
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys) rs746748953
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala) rs1555498163
NM_021098.3(CACNA1H):c.1413C>G (p.Val471=) rs781240456
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys) rs199914911
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys) rs765665281
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His)
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu) rs746716155
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln) rs532223684
NM_021098.3(CACNA1H):c.1567_1569CAC[7] (p.His528dup)
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=) rs1355615330
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu)
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln) rs748210497
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro) rs768475346
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro) rs1433856447
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser) rs750987846
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg) rs369898856
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His) rs747807971
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro) rs767196759
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu)
NM_021098.3(CACNA1H):c.1983G>A (p.Pro661=) rs56875953
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys)
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln) rs1180154075
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=) rs3751663
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val) rs61018135
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) rs56930579
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His)
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly) rs538923520
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys) rs764438301
NM_021098.3(CACNA1H):c.2175T>G (p.Arg725=) rs1427937474
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) rs371324992
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu) rs1346520324
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile) rs1567519932
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys) rs371167728
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys) rs369566757
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
NM_021098.3(CACNA1H):c.2254_2259CCAGGC[4] (p.752_753PG[4]) rs756747669
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu) rs761877111
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp) rs142306293
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp) rs777503810
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys) rs375325893
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile)
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu)
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn) rs1567521021
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575
NM_021098.3(CACNA1H):c.2452-6C>G rs766620515
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile) rs369356684
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=) rs368916421
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=) rs748509684
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser) rs202019417
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe) rs202019417
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser) rs374272094
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=) rs28365123
NM_021098.3(CACNA1H):c.2603+3G>A rs773966897
NM_021098.3(CACNA1H):c.2604-4G>A rs543668710
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=) rs562148225
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val) rs770827490
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp) rs779011503
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln) rs748252386
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=) rs777961380
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg) rs763407611
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys) rs1266233731
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961
NM_021098.3(CACNA1H):c.300-3C>T
NM_021098.3(CACNA1H):c.300-8G>T rs3751662
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu) rs771994752
NM_021098.3(CACNA1H):c.3063+9del rs757759305
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=) rs757098120
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn) rs977157885
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn) rs745354512
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met) rs371500703
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=) rs374946880
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys) rs1555514736
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met) rs1437402680
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del) rs1555514742
NM_021098.3(CACNA1H):c.314T>G (p.Val105Gly)
NM_021098.3(CACNA1H):c.3154+3G>A rs374267602
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro) rs1369723667
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser) rs1049677203
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile) rs772383239
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu) rs373190026
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met) rs1567531841
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg) rs59529743
NM_021098.3(CACNA1H):c.3363+6G>A
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del) rs746597383
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys) rs766406727
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=) rs753767261
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly) rs1379085668
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) rs772258959
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His)
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr)
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583
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.3636C>A (p.Thr1212=) rs767435491
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His) rs370838298
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys) rs778684497
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His) rs374847612
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn) rs771215852
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu) rs775405041
NM_021098.3(CACNA1H):c.366C>G (p.Pro122=) rs372041705
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=) rs1555515806
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg) rs1176658784
NM_021098.3(CACNA1H):c.3727_3729GAC[2] (p.Asp1245del)
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp) rs571145188
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu) rs571145188
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn) rs552269381
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp) rs751642419
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu)
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile) rs761199543
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=) rs59794024
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val) rs754671059
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=) rs200353061
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
NM_021098.3(CACNA1H):c.3970-10C>T rs377114648
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln) rs949170696
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val) rs371030255
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu)
NM_021098.3(CACNA1H):c.4035G>A (p.Val1345=) rs747258959
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) rs200400235
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser) rs747715176
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu) rs775971172
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr) rs764727820
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
NM_021098.3(CACNA1H):c.4219C>T (p.Leu1407=) rs1041269521
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr)
NM_021098.3(CACNA1H):c.4224-9C>T rs1287379368
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp) rs772769994
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp) rs759233103
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val) rs1379672193
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala) rs1567541260
NM_021098.3(CACNA1H):c.4351-6C>T rs377612703
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>T (p.Ala148Val)
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His) rs774455553
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn) rs200709671
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile) rs1462779871
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn) rs555853603
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile) rs745495784
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu) rs1045818263
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr) rs1195869438
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=) rs777692032
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln) rs781126604
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His) rs200627008
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=) rs200153161
NM_021098.3(CACNA1H):c.4759+1G>A rs1406256818
NM_021098.3(CACNA1H):c.4759+4A>G rs1567543703
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala) rs1555517834
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His) rs1458781875
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu) rs761945003
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys) rs531597200
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu) rs370292995
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser) rs769175169
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=) rs576335604
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala) rs1555518486
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val) rs371096587
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu) rs745902196
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg)
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys) rs771932368
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln) rs149367557
NM_021098.3(CACNA1H):c.5052G>A (p.Leu1684=) rs374459574
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr) rs375015931
NM_021098.3(CACNA1H):c.5132_5134CCA[1] (p.Thr1712del)
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=) rs1182772693
NM_021098.3(CACNA1H):c.5173+5G>A rs1567550121
NM_021098.3(CACNA1H):c.5174-5C>T rs199536335
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser) rs1567495146
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His) rs3889063
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del) rs1567552660
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg) rs372601783
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu) rs537055062
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=) rs776172409
NM_021098.3(CACNA1H):c.5445+4C>G rs147142971
NM_021098.3(CACNA1H):c.5446-10C>G rs1184041228
NM_021098.3(CACNA1H):c.5446-6C>A rs923710949
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys) rs768988866
NM_021098.3(CACNA1H):c.546-10C>T rs35509671
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys)
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=) rs58819745
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys) rs755405205
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met) rs370975488
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile) rs376566207
NM_021098.3(CACNA1H):c.5634C>T (p.Ala1878=) rs373353512
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys) rs377103385
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=) rs58632975
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp) rs899082537
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln) rs374710554
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu) rs1555520320
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe) rs919557968
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu) rs769441475
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val) rs72552053
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu) rs746967306
NM_021098.3(CACNA1H):c.5887+8A>G rs1258785345
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) rs3751886
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu) rs1483742539
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.5974G>A (p.Gly1992Ser) rs558813483
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe)
NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His) rs368553931
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp) rs753241781
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452
NM_021098.3(CACNA1H):c.6049-4A>T
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys) rs758461760
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile) rs367607849
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=)
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro) rs1555520840
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp) rs371550084
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) rs774769004
NM_021098.3(CACNA1H):c.6296_6298AGG[1] (p.Glu2100del)
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer) rs774660673
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=) rs57670193
NM_021098.3(CACNA1H):c.6327C>T (p.Cys2109=) rs777082647
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser) rs746537400
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile) rs774915687
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr) rs1225788473
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp) rs772416042
NM_021098.3(CACNA1H):c.63C>T (p.Gly21=) rs1261320353
NM_021098.3(CACNA1H):c.6459G>C (p.Gln2153His)
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu) rs779547523
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=) rs1555520987
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile) rs745906833
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala) rs1348390859
NM_021098.3(CACNA1H):c.6507G>A (p.Lys2169=) rs1555521007
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg) rs746446797
NM_021098.3(CACNA1H):c.6551_6553AGA[2] (p.Lys2186del) rs766893201
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser) rs538538654
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val) rs776473889
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp) rs762635374
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647
NM_021098.3(CACNA1H):c.6642C>T (p.Thr2214=) rs1555521091
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys) rs761083620
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala)
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met)
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr) rs774116060
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg) rs776025785
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser) rs375586314
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His) rs554435610
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp) rs770202267
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=) rs1468998569
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu)
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln) rs1203994251
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=) rs745960698
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser) rs774687054
NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly) rs745571869
NM_021098.3(CACNA1H):c.801C>T (p.Val267=) rs372726042
NM_021098.3(CACNA1H):c.804-4C>T rs905366458
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp)
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys) rs773167797
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln) rs377665479
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=) rs57740463
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398

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