ClinVar Miner

List of variants in gene CACNA1B reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 875
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000718.4(CACNA1B):c.623-59C>A rs74851409 0.03856
NM_000718.4(CACNA1B):c.5914-196T>C rs182551110 0.03258
NM_000718.4(CACNA1B):c.1901+74C>T rs118175552 0.02511
NM_000718.4(CACNA1B):c.4858-174G>A rs41277875 0.02209
NM_000718.4(CACNA1B):c.3710+120T>C rs41298145 0.01979
NM_000718.4(CACNA1B):c.1656+17A>T rs41277869 0.01885
NM_000718.4(CACNA1B):c.1543+174T>C rs112706344 0.01725
NM_000718.4(CACNA1B):c.1656+70A>T rs143911599 0.01649
NM_000718.4(CACNA1B):c.3414-31G>A rs41290001 0.01551
NM_000718.4(CACNA1B):c.1187-313G>A rs149958910 0.01522
NM_000718.4(CACNA1B):c.967-68G>T rs114122083 0.01406
NM_000718.4(CACNA1B):c.2709G>C (p.Arg903=) rs192692322 0.01402
NM_000718.4(CACNA1B):c.775+300G>A rs77410324 0.01397
NM_000718.4(CACNA1B):c.4584+119A>G rs13298580 0.01314
NM_000718.4(CACNA1B):c.1070+331A>T rs7469448 0.01291
NM_000718.4(CACNA1B):c.1975-100C>T rs143248798 0.01214
NM_000718.4(CACNA1B):c.2581C>T (p.Pro861Ser) rs572088326 0.01176
NM_000718.4(CACNA1B):c.1974+49C>G rs73669833 0.01170
NM_000718.4(CACNA1B):c.4950-253G>T rs62580948 0.01140
NM_000718.4(CACNA1B):c.2092+102C>T rs116183563 0.01128
NM_000718.4(CACNA1B):c.5320-305G>A rs117101367 0.01087
NM_000718.4(CACNA1B):c.1975-46G>T rs148289826 0.01085
NM_000718.4(CACNA1B):c.1470C>T (p.Cys490=) rs78326958 0.01051
NM_000718.4(CACNA1B):c.4309-50C>T rs77914810 0.01002
NM_000718.4(CACNA1B):c.3969-249C>T rs80276264 0.00977
NM_000718.4(CACNA1B):c.5537-189C>T rs111977279 0.00969
NM_000718.4(CACNA1B):c.5777+158G>A rs112026850 0.00966
NM_000718.4(CACNA1B):c.967-11C>G rs12115468 0.00949
NM_000718.4(CACNA1B):c.2092+136G>A rs138872166 0.00925
NM_000718.4(CACNA1B):c.570A>G (p.Thr190=) rs79732643 0.00879
NM_000718.4(CACNA1B):c.7010A>G (p.His2337Arg) rs150679456 0.00839
NM_000718.4(CACNA1B):c.3068+23T>A rs201765274 0.00828
NM_000718.4(CACNA1B):c.967-20C>T rs77534288 0.00815
NM_000718.4(CACNA1B):c.5914-190G>T rs117643349 0.00795
NM_000718.4(CACNA1B):c.*142C>A rs138887962 0.00776
NM_000718.4(CACNA1B):c.2268-206T>G rs1295455758 0.00769
NM_000718.4(CACNA1B):c.1975-43G>T rs11794499 0.00710
NM_000718.4(CACNA1B):c.4585-59C>A rs370368293 0.00642
NM_000718.4(CACNA1B):c.3807+59T>C rs561179246 0.00608
NM_000718.4(CACNA1B):c.4950-52C>T rs115002974 0.00605
NM_000718.4(CACNA1B):c.5222+119G>A rs150606219 0.00585
NM_000718.4(CACNA1B):c.2093-4C>A rs76062311 0.00574
NM_000718.4(CACNA1B):c.2925G>C (p.Pro975=) rs201396139 0.00553
NM_000718.4(CACNA1B):c.4584+228T>G rs143832959 0.00541
NM_000718.4(CACNA1B):c.4950-223G>A rs77804401 0.00533
NM_000718.4(CACNA1B):c.4949+85C>T rs185212738 0.00529
NM_000718.4(CACNA1B):c.92G>T (p.Gly31Val) rs201253748 0.00476
NM_000718.4(CACNA1B):c.2093-60C>A rs116581407 0.00448
NM_000718.4(CACNA1B):c.1244-243T>G rs190872527 0.00438
NM_000718.4(CACNA1B):c.775+210G>C rs78765793 0.00429
NM_000718.4(CACNA1B):c.18C>T (p.Asp6=) rs757235316 0.00416
NM_000718.4(CACNA1B):c.1953C>T (p.Ala651=) rs79042424 0.00371
NM_000718.4(CACNA1B):c.967-51G>A rs139394571 0.00347
NM_000718.4(CACNA1B):c.4858-193G>A rs191535943 0.00321
NM_000718.4(CACNA1B):c.5370C>T (p.His1790=) rs41277877 0.00311
NM_000718.4(CACNA1B):c.4848C>T (p.Ile1616=) rs77664166 0.00301
NM_000718.4(CACNA1B):c.30C>T (p.Gly10=) rs767457983 0.00298
NM_000718.4(CACNA1B):c.967-8G>A rs78177919 0.00263
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 0.00247
NM_000718.4(CACNA1B):c.4020G>A (p.Gln1340=) rs116659558 0.00238
NM_000718.4(CACNA1B):c.4959G>A (p.Thr1653=) rs150165282 0.00217
NM_000718.4(CACNA1B):c.5537-150C>G rs539124934 0.00217
NM_000718.4(CACNA1B):c.2092+69G>A rs78898109 0.00210
NM_000718.4(CACNA1B):c.4858-103C>T rs184404619 0.00192
NM_000718.4(CACNA1B):c.4308+10C>T rs144980930 0.00188
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) rs201940970 0.00160
NM_000718.4(CACNA1B):c.6261G>A (p.Pro2087=) rs200950787 0.00151
NM_000718.4(CACNA1B):c.6432C>T (p.Ser2144=) rs201409760 0.00109
NM_000718.4(CACNA1B):c.6144G>A (p.Ser2048=) rs187721569 0.00100
NM_000718.4(CACNA1B):c.5031C>T (p.Thr1677=) rs200959091 0.00086
NM_000718.4(CACNA1B):c.2886C>A (p.Pro962=) rs374275536 0.00074
NM_000718.4(CACNA1B):c.6724G>C (p.Asp2242His) rs79400016 0.00072
NM_000718.4(CACNA1B):c.4308+7G>A rs192240294 0.00063
NM_000718.4(CACNA1B):c.6238+19G>A rs79636270 0.00053
NM_000718.4(CACNA1B):c.1186+8C>T rs185856743 0.00046
NM_000718.4(CACNA1B):c.1983G>A (p.Thr661=) rs146062420 0.00044
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr) rs200122209 0.00039
NM_000718.4(CACNA1B):c.6031-6C>T rs201506051 0.00039
NM_000718.4(CACNA1B):c.1551A>G (p.Ala517=) rs199718663 0.00026
NM_000718.4(CACNA1B):c.2718C>G (p.Arg906=) rs896144053 0.00026
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) rs201383337 0.00025
NM_000718.4(CACNA1B):c.2160+10G>A rs201697323 0.00024
NM_000718.4(CACNA1B):c.6738G>C (p.Gln2246His) rs200222038 0.00024
NM_000718.4(CACNA1B):c.5869C>T (p.Arg1957Cys) rs200598077 0.00023
NM_000718.4(CACNA1B):c.3441G>T (p.Val1147=) rs201992929 0.00021
NM_000718.4(CACNA1B):c.2298G>C (p.Ser766=) rs201422396 0.00019
NM_000718.4(CACNA1B):c.6260C>T (p.Pro2087Leu) rs200308291 0.00019
NM_000718.4(CACNA1B):c.6642C>T (p.Ala2214=) rs201711394 0.00019
NM_000718.4(CACNA1B):c.5320-18G>A rs371663012 0.00016
NM_000718.4(CACNA1B):c.6033C>T (p.Pro2011=) rs199504518 0.00016
NM_000718.4(CACNA1B):c.6449C>T (p.Thr2150Met) rs200951619 0.00016
NM_000718.4(CACNA1B):c.4044C>T (p.Tyr1348=) rs200235820 0.00014
NM_000718.4(CACNA1B):c.6238+18C>T rs201810933 0.00014
NM_000718.4(CACNA1B):c.2220A>G (p.Glu740=) rs202180196 0.00013
NM_000718.4(CACNA1B):c.2751G>T (p.Arg917=) rs1009675362 0.00009
NM_000718.4(CACNA1B):c.5000A>G (p.Asn1667Ser) rs138863358 0.00008
NM_000718.4(CACNA1B):c.6552C>T (p.Arg2184=) rs200376348 0.00008
NM_000718.4(CACNA1B):c.5706G>A (p.Pro1902=) rs138511879 0.00007
NM_000718.4(CACNA1B):c.1770-5C>T rs201472732 0.00006
NM_000718.4(CACNA1B):c.6025A>T (p.Thr2009Ser) rs201936500 0.00006
NM_000718.4(CACNA1B):c.831C>T (p.Cys277=) rs778540767 0.00006
NM_000718.4(CACNA1B):c.2544G>A (p.Pro848=) rs200029127 0.00004
NM_000718.4(CACNA1B):c.1901+12C>T rs199845791 0.00003
NM_000718.4(CACNA1B):c.4950-10T>G rs779111546 0.00003
NM_000718.4(CACNA1B):c.5649+10G>A rs1179917749 0.00003
NM_000718.4(CACNA1B):c.3456C>T (p.Phe1152=) rs887527956 0.00002
NM_000718.4(CACNA1B):c.63C>T (p.Ala21=) rs748315878 0.00002
NM_000718.4(CACNA1B):c.1187-10C>T rs1344866295 0.00001
NM_000718.4(CACNA1B):c.1530T>C (p.Leu510=) rs199852179 0.00001
NM_000718.4(CACNA1B):c.2235C>T (p.Ser745=) rs755377097 0.00001
NM_000718.4(CACNA1B):c.3495C>T (p.Ile1165=) rs200895076 0.00001
NM_000718.4(CACNA1B):c.3710+14G>A rs746838613 0.00001
NM_000718.4(CACNA1B):c.4474-4G>A rs757030496 0.00001
NM_000718.4(CACNA1B):c.4719G>A (p.Ala1573=) rs745736941 0.00001
NM_000718.4(CACNA1B):c.4792-19C>A rs199743584 0.00001
NM_000718.4(CACNA1B):c.5118G>A (p.Val1706=) rs201951593 0.00001
NM_000718.4(CACNA1B):c.5222+11C>T rs754615618 0.00001
NM_000718.4(CACNA1B):c.6615G>A (p.Thr2205=) rs768086614 0.00001
NM_000718.4(CACNA1B):c.6832C>A (p.Leu2278Ile) rs758010481 0.00001
GRCh37/hg19 9q34.3(chr9:140862504-140994780)x3
NM_000718.4(CACNA1B):c.1005C>T (p.Tyr335=)
NM_000718.4(CACNA1B):c.1014T>C (p.Pro338=)
NM_000718.4(CACNA1B):c.1017C>T (p.Leu339=)
NM_000718.4(CACNA1B):c.102C>A (p.Pro34=)
NM_000718.4(CACNA1B):c.1044C>T (p.Leu348=)
NM_000718.4(CACNA1B):c.1050G>A (p.Leu350=)
NM_000718.4(CACNA1B):c.1059C>G (p.Gly353=)
NM_000718.4(CACNA1B):c.1059C>T (p.Gly353=)
NM_000718.4(CACNA1B):c.1070+10C>A
NM_000718.4(CACNA1B):c.1070+20A>T
NM_000718.4(CACNA1B):c.1071-10T>C
NM_000718.4(CACNA1B):c.1071-14C>A
NM_000718.4(CACNA1B):c.1071-15G>T
NM_000718.4(CACNA1B):c.1071-17C>T
NM_000718.4(CACNA1B):c.1071-18C>T
NM_000718.4(CACNA1B):c.108G>T (p.Gly36=)
NM_000718.4(CACNA1B):c.1092G>A (p.Glu364=)
NM_000718.4(CACNA1B):c.1110C>T (p.Arg370=)
NM_000718.4(CACNA1B):c.1125G>T (p.Leu375=)
NM_000718.4(CACNA1B):c.1134G>A (p.Gln378=)
NM_000718.4(CACNA1B):c.1140G>A (p.Gln380=)
NM_000718.4(CACNA1B):c.1143C>T (p.Ile381=)
NM_000718.4(CACNA1B):c.1152G>A (p.Glu384=)
NM_000718.4(CACNA1B):c.1158C>T (p.Asn386=)
NM_000718.4(CACNA1B):c.1161G>A (p.Gly387=)
NM_000718.4(CACNA1B):c.1164C>T (p.Tyr388=)
NM_000718.4(CACNA1B):c.1170G>A (p.Glu390=)
NM_000718.4(CACNA1B):c.1182G>A (p.Lys394=)
NM_000718.4(CACNA1B):c.1186+10C>T
NM_000718.4(CACNA1B):c.1186+11G>A
NM_000718.4(CACNA1B):c.1187-101del
NM_000718.4(CACNA1B):c.1187-102_1187-101dup rs879084940
NM_000718.4(CACNA1B):c.1187-4G>A
NM_000718.4(CACNA1B):c.1187-5C>T
NM_000718.4(CACNA1B):c.1187-8C>T rs181095015
NM_000718.4(CACNA1B):c.1194C>T (p.Val398=)
NM_000718.4(CACNA1B):c.1203C>T (p.Ala401=)
NM_000718.4(CACNA1B):c.1237T>C (p.Leu413=)
NM_000718.4(CACNA1B):c.1244-15C>G
NM_000718.4(CACNA1B):c.1244-16C>T
NM_000718.4(CACNA1B):c.1244-20C>T
NM_000718.4(CACNA1B):c.1244-20_1244-19del
NM_000718.4(CACNA1B):c.1257G>A (p.Ala419=)
NM_000718.4(CACNA1B):c.1266G>A (p.Lys422=)
NM_000718.4(CACNA1B):c.1290C>T (p.His430=)
NM_000718.4(CACNA1B):c.1323C>G (p.Leu441=)
NM_000718.4(CACNA1B):c.1333+14T>G
NM_000718.4(CACNA1B):c.1333+15G>A
NM_000718.4(CACNA1B):c.1333+16T>C
NM_000718.4(CACNA1B):c.1334-11C>T
NM_000718.4(CACNA1B):c.1334-12C>T
NM_000718.4(CACNA1B):c.1334-13C>T
NM_000718.4(CACNA1B):c.1334-15T>C
NM_000718.4(CACNA1B):c.1334-23_1334-17del
NM_000718.4(CACNA1B):c.1334-8C>A
NM_000718.4(CACNA1B):c.1344C>T (p.Phe448=)
NM_000718.4(CACNA1B):c.1350C>T (p.Arg450=)
NM_000718.4(CACNA1B):c.1365C>T (p.Ser455=)
NM_000718.4(CACNA1B):c.1374A>G (p.Thr458=)
NM_000718.4(CACNA1B):c.1383G>A (p.Ser461=) rs61739616
NM_000718.4(CACNA1B):c.1431C>G (p.Arg477=)
NM_000718.4(CACNA1B):c.1464G>A (p.Val488=)
NM_000718.4(CACNA1B):c.1506G>T (p.Val502=)
NM_000718.4(CACNA1B):c.1521G>A (p.Pro507=)
NM_000718.4(CACNA1B):c.1521G>C (p.Pro507=)
NM_000718.4(CACNA1B):c.1524G>T (p.Arg508=)
NM_000718.4(CACNA1B):c.1527G>T (p.Arg509=)
NM_000718.4(CACNA1B):c.1533C>T (p.Thr511=)
NM_000718.4(CACNA1B):c.1536G>T (p.Thr512=)
NM_000718.4(CACNA1B):c.1543+12C>T
NM_000718.4(CACNA1B):c.1543+15C>T
NM_000718.4(CACNA1B):c.1543+16C>T
NM_000718.4(CACNA1B):c.1543+9C>T
NM_000718.4(CACNA1B):c.1544-10C>T
NM_000718.4(CACNA1B):c.1544-13C>T
NM_000718.4(CACNA1B):c.1544-18T>C
NM_000718.4(CACNA1B):c.1606C>T (p.Leu536=)
NM_000718.4(CACNA1B):c.1611G>T (p.Gly537=)
NM_000718.4(CACNA1B):c.1620C>T (p.Ser540=)
NM_000718.4(CACNA1B):c.1635C>A (p.Ser545=)
NM_000718.4(CACNA1B):c.1647C>T (p.Phe549=)
NM_000718.4(CACNA1B):c.1656+10_1656+11del
NM_000718.4(CACNA1B):c.1656+11G>A
NM_000718.4(CACNA1B):c.1656+13C>T
NM_000718.4(CACNA1B):c.1656+18T>G
NM_000718.4(CACNA1B):c.1657-234G>T
NM_000718.4(CACNA1B):c.1657-7G>A
NM_000718.4(CACNA1B):c.1657-8C>T
NM_000718.4(CACNA1B):c.1662C>T (p.Ile554=)
NM_000718.4(CACNA1B):c.1671C>T (p.Ser557=)
NM_000718.4(CACNA1B):c.1692G>A (p.Ala564=)
NM_000718.4(CACNA1B):c.1701G>A (p.Lys567=)
NM_000718.4(CACNA1B):c.1704G>A (p.Pro568=)
NM_000718.4(CACNA1B):c.1734G>T (p.Arg578=)
NM_000718.4(CACNA1B):c.1743C>T (p.Arg581=)
NM_000718.4(CACNA1B):c.1746G>A (p.Leu582=)
NM_000718.4(CACNA1B):c.1764C>T (p.Val588=)
NM_000718.4(CACNA1B):c.1767G>A (p.Thr589=)
NM_000718.4(CACNA1B):c.1769+10C>G
NM_000718.4(CACNA1B):c.1769+11T>G
NM_000718.4(CACNA1B):c.1769+13C>T
NM_000718.4(CACNA1B):c.1769+7C>T
NM_000718.4(CACNA1B):c.1770-19C>G
NM_000718.4(CACNA1B):c.1770-20C>A
NM_000718.4(CACNA1B):c.1770-229G>T rs117428628
NM_000718.4(CACNA1B):c.1770-4G>A
NM_000718.4(CACNA1B):c.1785G>C (p.Leu595=)
NM_000718.4(CACNA1B):c.1800G>A (p.Val600=)
NM_000718.4(CACNA1B):c.180C>T (p.Asn60=)
NM_000718.4(CACNA1B):c.1834C>T (p.Leu612=)
NM_000718.4(CACNA1B):c.1839C>G (p.Leu613=)
NM_000718.4(CACNA1B):c.1839C>T (p.Leu613=)
NM_000718.4(CACNA1B):c.1854G>A (p.Leu618=)
NM_000718.4(CACNA1B):c.1896G>T (p.Gly632=)
NM_000718.4(CACNA1B):c.1901+13G>A
NM_000718.4(CACNA1B):c.1901+13G>T
NM_000718.4(CACNA1B):c.1902-12T>C
NM_000718.4(CACNA1B):c.1902-15T>A
NM_000718.4(CACNA1B):c.1902-8T>C
NM_000718.4(CACNA1B):c.1938C>T (p.Phe646=)
NM_000718.4(CACNA1B):c.1944C>T (p.Thr648=)
NM_000718.4(CACNA1B):c.195G>A (p.Lys65=)
NM_000718.4(CACNA1B):c.1962C>T (p.Leu654=)
NM_000718.4(CACNA1B):c.1965T>C (p.Thr655=)
NM_000718.4(CACNA1B):c.1974+12G>C
NM_000718.4(CACNA1B):c.1974+8A>G
NM_000718.4(CACNA1B):c.1974+9C>T
NM_000718.4(CACNA1B):c.1975-74C>A rs560665141
NM_000718.4(CACNA1B):c.2013C>T (p.His671=)
NM_000718.4(CACNA1B):c.2019C>T (p.Ile673=)
NM_000718.4(CACNA1B):c.2025G>A (p.Ser675=)
NM_000718.4(CACNA1B):c.2025G>T (p.Ser675=)
NM_000718.4(CACNA1B):c.2028A>G (p.Gln676=)
NM_000718.4(CACNA1B):c.2034C>T (p.Gly678=)
NM_000718.4(CACNA1B):c.2055G>A (p.Ser685=) rs201000167
NM_000718.4(CACNA1B):c.2055G>T (p.Ser685=)
NM_000718.4(CACNA1B):c.2079A>G (p.Thr693=)
NM_000718.4(CACNA1B):c.2085C>T (p.Phe695=)
NM_000718.4(CACNA1B):c.2092+11G>A
NM_000718.4(CACNA1B):c.2092+12T>G
NM_000718.4(CACNA1B):c.2092+13G>A
NM_000718.4(CACNA1B):c.2092+16G>A
NM_000718.4(CACNA1B):c.2092+19G>A
NM_000718.4(CACNA1B):c.2093-7C>A
NM_000718.4(CACNA1B):c.2109C>T (p.Val703=)
NM_000718.4(CACNA1B):c.2113C>T (p.Leu705=)
NM_000718.4(CACNA1B):c.2121C>T (p.Ile707=)
NM_000718.4(CACNA1B):c.2134C>T (p.Leu712=)
NM_000718.4(CACNA1B):c.2142C>T (p.Asn714=)
NM_000718.4(CACNA1B):c.2160+13A>G
NM_000718.4(CACNA1B):c.2160+15G>A
NM_000718.4(CACNA1B):c.2160+18_2160+21del
NM_000718.4(CACNA1B):c.2160+7G>A
NM_000718.4(CACNA1B):c.2160+9C>T
NM_000718.4(CACNA1B):c.2161-11T>G
NM_000718.4(CACNA1B):c.2161-16C>T
NM_000718.4(CACNA1B):c.2161-6A>C
NM_000718.4(CACNA1B):c.2161-6A>T
NM_000718.4(CACNA1B):c.2161-9C>T
NM_000718.4(CACNA1B):c.2202T>C (p.Ala734=)
NM_000718.4(CACNA1B):c.2223G>A (p.Val741=)
NM_000718.4(CACNA1B):c.2268-12G>T
NM_000718.4(CACNA1B):c.2268-18C>G
NM_000718.4(CACNA1B):c.2268-203G>T rs536188029
NM_000718.4(CACNA1B):c.2268-4G>A
NM_000718.4(CACNA1B):c.2268-6C>T
NM_000718.4(CACNA1B):c.2268-7C>T
NM_000718.4(CACNA1B):c.2268-9T>G
NM_000718.4(CACNA1B):c.2274G>A (p.Gln758=)
NM_000718.4(CACNA1B):c.2280C>T (p.Asn760=)
NM_000718.4(CACNA1B):c.2286C>G (p.Ala762=)
NM_000718.4(CACNA1B):c.228C>G (p.Phe76Leu) rs139719558
NM_000718.4(CACNA1B):c.2313G>C (p.Arg771=)
NM_000718.4(CACNA1B):c.2352C>T (p.Cys784=)
NM_000718.4(CACNA1B):c.2379C>T (p.Pro793=)
NM_000718.4(CACNA1B):c.2416C>A (p.Arg806=)
NM_000718.4(CACNA1B):c.2448G>A (p.Pro816=)
NM_000718.4(CACNA1B):c.2487C>T (p.Pro829=)
NM_000718.4(CACNA1B):c.2502C>T (p.Ala834=)
NM_000718.4(CACNA1B):c.2514T>A (p.Ala838=)
NM_000718.4(CACNA1B):c.2538C>T (p.Asp846=)
NM_000718.4(CACNA1B):c.2541T>A (p.Pro847=)
NM_000718.4(CACNA1B):c.2553C>T (p.His851=)
NM_000718.4(CACNA1B):c.2556C>T (p.His852=)
NM_000718.4(CACNA1B):c.2557C>A (p.Arg853=)
NM_000718.4(CACNA1B):c.2565C>T (p.Arg855=)
NM_000718.4(CACNA1B):c.2577G>A (p.Lys859=)
NM_000718.4(CACNA1B):c.2583C>T (p.Pro861=)
NM_000718.4(CACNA1B):c.2586G>A (p.Ala862=)
NM_000718.4(CACNA1B):c.2586G>C (p.Ala862=)
NM_000718.4(CACNA1B):c.2592G>A (p.Gly864=)
NM_000718.4(CACNA1B):c.2592G>C (p.Gly864=)
NM_000718.4(CACNA1B):c.2610G>A (p.Glu870=)
NM_000718.4(CACNA1B):c.2616G>A (p.Pro872=)
NM_000718.4(CACNA1B):c.2628C>T (p.Ser876=)
NM_000718.4(CACNA1B):c.2631G>A (p.Gly877=)
NM_000718.4(CACNA1B):c.2637C>G (p.Pro879=)
NM_000718.4(CACNA1B):c.2637C>T (p.Pro879=)
NM_000718.4(CACNA1B):c.2640T>G (p.Gly880=)
NM_000718.4(CACNA1B):c.2646G>C (p.Arg882=)
NM_000718.4(CACNA1B):c.2663_2668dup (p.Pro888_His889dup) rs1200621914
NM_000718.4(CACNA1B):c.2691G>A (p.Ala897=)
NM_000718.4(CACNA1B):c.2697C>A (p.Pro899=)
NM_000718.4(CACNA1B):c.2703G>A (p.Glu901=)
NM_000718.4(CACNA1B):c.2706G>A (p.Ala902=)
NM_000718.4(CACNA1B):c.2713G>A (p.Glu905Lys)
NM_000718.4(CACNA1B):c.2718C>A (p.Arg906=)
NM_000718.4(CACNA1B):c.2718C>T (p.Arg906=)
NM_000718.4(CACNA1B):c.2721C>G (p.Gly907=)
NM_000718.4(CACNA1B):c.2727C>T (p.Gly909=)
NM_000718.4(CACNA1B):c.2730A>G (p.Pro910=)
NM_000718.4(CACNA1B):c.2736C>T (p.Pro912=)
NM_000718.4(CACNA1B):c.2739G>A (p.Glu913=)
NM_000718.4(CACNA1B):c.273C>A (p.Ile91=)
NM_000718.4(CACNA1B):c.2742C>T (p.Gly914=)
NM_000718.4(CACNA1B):c.2745C>T (p.Gly915=)
NM_000718.4(CACNA1B):c.2769C>T (p.Ser923=)
NM_000718.4(CACNA1B):c.2778G>A (p.Glu926=) rs2133439012
NM_000718.4(CACNA1B):c.2784C>G (p.Ala928=)
NM_000718.4(CACNA1B):c.2796C>T (p.Pro932=)
NM_000718.4(CACNA1B):c.2802C>T (p.Arg934=)
NM_000718.4(CACNA1B):c.2811G>C (p.Ala937=)
NM_000718.4(CACNA1B):c.2817G>T (p.Arg939=)
NM_000718.4(CACNA1B):c.2847C>A (p.Gly949=)
NM_000718.4(CACNA1B):c.2856C>A (p.Gly952=)
NM_000718.4(CACNA1B):c.2865C>T (p.Arg955=)
NM_000718.4(CACNA1B):c.2871G>A (p.Arg957=)
NM_000718.4(CACNA1B):c.2874C>T (p.His958=)
NM_000718.4(CACNA1B):c.2887C>A (p.Arg963=)
NM_000718.4(CACNA1B):c.2895G>T (p.Gly965=)
NM_000718.4(CACNA1B):c.2898C>T (p.Pro966=)
NM_000718.4(CACNA1B):c.2908G>A (p.Glu970Lys)
NM_000718.4(CACNA1B):c.2940G>C (p.Arg980=)
NM_000718.4(CACNA1B):c.2980A>G (p.Lys994Glu)
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1]) rs758502874
NM_000718.4(CACNA1B):c.2990C>T (p.Thr997Met)
NM_000718.4(CACNA1B):c.2994G>A (p.Glu998=)
NM_000718.4(CACNA1B):c.3006G>A (p.Thr1002=)
NM_000718.4(CACNA1B):c.3006G>C (p.Thr1002=)
NM_000718.4(CACNA1B):c.3027G>A (p.Val1009=)
NM_000718.4(CACNA1B):c.3066C>T (p.Pro1022=)
NM_000718.4(CACNA1B):c.3068+10C>T
NM_000718.4(CACNA1B):c.3068+15G>A
NM_000718.4(CACNA1B):c.3068+15G>C
NM_000718.4(CACNA1B):c.3068+18C>G
NM_000718.4(CACNA1B):c.3068+7C>T
NM_000718.4(CACNA1B):c.3069-18G>A
NM_000718.4(CACNA1B):c.3078C>T (p.His1026=)
NM_000718.4(CACNA1B):c.3084C>T (p.Asp1028=)
NM_000718.4(CACNA1B):c.3085C>T (p.Leu1029=)
NM_000718.4(CACNA1B):c.3111G>T (p.Val1037=)
NM_000718.4(CACNA1B):c.3177C>T (p.Asp1059=)
NM_000718.4(CACNA1B):c.3186G>A (p.Arg1062=)
NM_000718.4(CACNA1B):c.3222G>C (p.Pro1074=)
NM_000718.4(CACNA1B):c.3231T>C (p.Ile1077=)
NM_000718.4(CACNA1B):c.3237T>C (p.His1079=)
NM_000718.4(CACNA1B):c.3240C>T (p.Ile1080=)
NM_000718.4(CACNA1B):c.3252G>A (p.Leu1084=)
NM_000718.4(CACNA1B):c.3255G>C (p.Thr1085=)
NM_000718.4(CACNA1B):c.3279C>G (p.Val1093=) rs147270326
NM_000718.4(CACNA1B):c.3286+19C>T
NM_000718.4(CACNA1B):c.3286+6dup
NM_000718.4(CACNA1B):c.3414-16G>A
NM_000718.4(CACNA1B):c.3414-16G>C
NM_000718.4(CACNA1B):c.3414-17C>T
NM_000718.4(CACNA1B):c.3414-36G>C
NM_000718.4(CACNA1B):c.3414-5C>A
NM_000718.4(CACNA1B):c.3414-9C>G
NM_000718.4(CACNA1B):c.3417C>T (p.Leu1139=)
NM_000718.4(CACNA1B):c.3438C>A (p.Ile1146=)
NM_000718.4(CACNA1B):c.3438C>T (p.Ile1146=)
NM_000718.4(CACNA1B):c.3462G>A (p.Val1154=)
NM_000718.4(CACNA1B):c.3471C>T (p.Leu1157=)
NM_000718.4(CACNA1B):c.3486G>A (p.Leu1162=)
NM_000718.4(CACNA1B):c.3489C>T (p.Ser1163=)
NM_000718.4(CACNA1B):c.3507T>G (p.Ala1169=)
NM_000718.4(CACNA1B):c.351C>T (p.His117=)
NM_000718.4(CACNA1B):c.3522C>T (p.Arg1174=)
NM_000718.4(CACNA1B):c.3525A>G (p.Thr1175=)
NM_000718.4(CACNA1B):c.3531G>A (p.Ser1177=)
NM_000718.4(CACNA1B):c.3531G>C (p.Ser1177=)
NM_000718.4(CACNA1B):c.3543+100G>A rs114882163
NM_000718.4(CACNA1B):c.3543+11C>T
NM_000718.4(CACNA1B):c.3543+12G>A
NM_000718.4(CACNA1B):c.3543+14A>G
NM_000718.4(CACNA1B):c.3543+20G>A
NM_000718.4(CACNA1B):c.3543+20G>C
NM_000718.4(CACNA1B):c.3544-14C>T
NM_000718.4(CACNA1B):c.3561T>C (p.Asp1187=)
NM_000718.4(CACNA1B):c.3579C>G (p.Val1193=)
NM_000718.4(CACNA1B):c.3585C>T (p.Thr1195=)
NM_000718.4(CACNA1B):c.3588T>C (p.Phe1196=)
NM_000718.4(CACNA1B):c.3603+11T>C
NM_000718.4(CACNA1B):c.3603+18C>T
NM_000718.4(CACNA1B):c.3603+19C>T
NM_000718.4(CACNA1B):c.3604-18T>A
NM_000718.4(CACNA1B):c.3604-19G>A
NM_000718.4(CACNA1B):c.3604-20C>T
NM_000718.4(CACNA1B):c.3604-4C>G
NM_000718.4(CACNA1B):c.3609C>T (p.Ile1203=)
NM_000718.4(CACNA1B):c.3612C>T (p.Asp1204=)
NM_000718.4(CACNA1B):c.3624G>C (p.Leu1208=)
NM_000718.4(CACNA1B):c.3666G>A (p.Leu1222=)
NM_000718.4(CACNA1B):c.3666G>T (p.Leu1222=)
NM_000718.4(CACNA1B):c.3687C>T (p.Gly1229=)
NM_000718.4(CACNA1B):c.3699G>A (p.Ala1233=)
NM_000718.4(CACNA1B):c.3699G>T (p.Ala1233=)
NM_000718.4(CACNA1B):c.3705T>C (p.Ala1235=)
NM_000718.4(CACNA1B):c.3710+10G>A
NM_000718.4(CACNA1B):c.3710+10G>T
NM_000718.4(CACNA1B):c.3710+13C>G rs189870615
NM_000718.4(CACNA1B):c.3710+13C>T
NM_000718.4(CACNA1B):c.3710+19G>C
NM_000718.4(CACNA1B):c.3710+19G>T
NM_000718.4(CACNA1B):c.3710+9C>T
NM_000718.4(CACNA1B):c.3729C>T (p.Asp1243=)
NM_000718.4(CACNA1B):c.3732C>T (p.Ile1244=)
NM_000718.4(CACNA1B):c.3769C>A (p.Arg1257=)
NM_000718.4(CACNA1B):c.3786C>T (p.Ile1262=)
NM_000718.4(CACNA1B):c.3807+62GT[10] rs140068697
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTG rs56929123
NM_000718.4(CACNA1B):c.3807+68_3807+69insCGTGTGTGTGTGTGTGTG rs56929123
NM_000718.4(CACNA1B):c.3808-12C>G
NM_000718.4(CACNA1B):c.3808-17C>T
NM_000718.4(CACNA1B):c.3808-19T>C
NM_000718.4(CACNA1B):c.3808-4G>C
NM_000718.4(CACNA1B):c.3825G>T (p.Val1275=)
NM_000718.4(CACNA1B):c.3852C>T (p.Asn1284=)
NM_000718.4(CACNA1B):c.3858G>A (p.Leu1286=)
NM_000718.4(CACNA1B):c.3891C>G (p.Ala1297=)
NM_000718.4(CACNA1B):c.3891C>T (p.Ala1297=)
NM_000718.4(CACNA1B):c.3900G>A (p.Ala1300=)
NM_000718.4(CACNA1B):c.3927C>T (p.Phe1309=)
NM_000718.4(CACNA1B):c.3948G>A (p.Lys1316=)
NM_000718.4(CACNA1B):c.3969-14G>A
NM_000718.4(CACNA1B):c.3969-16A>G
NM_000718.4(CACNA1B):c.3969-18C>G
NM_000718.4(CACNA1B):c.3969-19C>T
NM_000718.4(CACNA1B):c.3969-4C>G
NM_000718.4(CACNA1B):c.3969-4del
NM_000718.4(CACNA1B):c.3969-9C>T
NM_000718.4(CACNA1B):c.4038T>C (p.Phe1346=)
NM_000718.4(CACNA1B):c.4068G>C (p.Leu1356=)
NM_000718.4(CACNA1B):c.4074G>C (p.Leu1358=)
NM_000718.4(CACNA1B):c.4080A>C (p.Thr1360=)
NM_000718.4(CACNA1B):c.4080A>G (p.Thr1360=)
NM_000718.4(CACNA1B):c.4092A>C (p.Gly1364=)
NM_000718.4(CACNA1B):c.4106+10C>T
NM_000718.4(CACNA1B):c.4106+16G>A
NM_000718.4(CACNA1B):c.4107-10C>A
NM_000718.4(CACNA1B):c.4107-13C>T
NM_000718.4(CACNA1B):c.4173G>A (p.Glu1391=)
NM_000718.4(CACNA1B):c.4176G>A (p.Leu1392=)
NM_000718.4(CACNA1B):c.4179C>T (p.Ser1393=)
NM_000718.4(CACNA1B):c.4188C>T (p.Tyr1396=)
NM_000718.4(CACNA1B):c.4191G>A (p.Val1397=)
NM_000718.4(CACNA1B):c.4203G>C (p.Val1401=)
NM_000718.4(CACNA1B):c.4209T>C (p.Phe1403=)
NM_000718.4(CACNA1B):c.4212C>G (p.Pro1404=)
NM_000718.4(CACNA1B):c.4212C>T (p.Pro1404=) rs74849357
NM_000718.4(CACNA1B):c.4221C>T (p.Phe1407=)
NM_000718.4(CACNA1B):c.4245C>T (p.Ile1415=)
NM_000718.4(CACNA1B):c.4254C>A (p.Thr1418=)
NM_000718.4(CACNA1B):c.4269G>A (p.Gly1423=)
NM_000718.4(CACNA1B):c.4272C>T (p.Asp1424=)
NM_000718.4(CACNA1B):c.42C>T (p.Gly14=)
NM_000718.4(CACNA1B):c.4305C>T (p.Asn1435=)
NM_000718.4(CACNA1B):c.4308+12C>T
NM_000718.4(CACNA1B):c.4308+14C>T
NM_000718.4(CACNA1B):c.4308+16G>A
NM_000718.4(CACNA1B):c.4308+17_4308+18del
NM_000718.4(CACNA1B):c.4308+19G>A
NM_000718.4(CACNA1B):c.4308+7G>T
NM_000718.4(CACNA1B):c.4308+9A>T
NM_000718.4(CACNA1B):c.4309-12C>T
NM_000718.4(CACNA1B):c.4309-16C>T
NM_000718.4(CACNA1B):c.4309-7C>T
NM_000718.4(CACNA1B):c.4326C>T (p.Phe1442=)
NM_000718.4(CACNA1B):c.4332C>A (p.Ile1444=)
NM_000718.4(CACNA1B):c.4335C>T (p.Ser1445=)
NM_000718.4(CACNA1B):c.4353G>C (p.Arg1451=)
NM_000718.4(CACNA1B):c.4373A>C (p.Gln1458Pro)
NM_000718.4(CACNA1B):c.4377G>C (p.Ser1459=)
NM_000718.4(CACNA1B):c.4386T>C (p.Tyr1462=)
NM_000718.4(CACNA1B):c.4392G>A (p.Thr1464=)
NM_000718.4(CACNA1B):c.4425C>T (p.Tyr1475=)
NM_000718.4(CACNA1B):c.4461G>A (p.Val1487=)
NM_000718.4(CACNA1B):c.4464G>A (p.Leu1488=)
NM_000718.4(CACNA1B):c.4473+18C>T
NM_000718.4(CACNA1B):c.4473+8G>T
NM_000718.4(CACNA1B):c.4474-10C>A
NM_000718.4(CACNA1B):c.4474-13A>G
NM_000718.4(CACNA1B):c.4474-13A>T
NM_000718.4(CACNA1B):c.4474-20A>G
NM_000718.4(CACNA1B):c.4474-6G>C
NM_000718.4(CACNA1B):c.4474-7C>T
NM_000718.4(CACNA1B):c.4488C>G (p.Pro1496=)
NM_000718.4(CACNA1B):c.4491T>C (p.Tyr1497=)
NM_000718.4(CACNA1B):c.4497C>T (p.Tyr1499=)
NM_000718.4(CACNA1B):c.4503G>A (p.Leu1501=)
NM_000718.4(CACNA1B):c.4524C>T (p.Ile1508=)
NM_000718.4(CACNA1B):c.4527G>A (p.Val1509=)
NM_000718.4(CACNA1B):c.4581G>A (p.Val1527=)
NM_000718.4(CACNA1B):c.4581G>T (p.Val1527=)
NM_000718.4(CACNA1B):c.4584+17del
NM_000718.4(CACNA1B):c.4584+9T>C
NM_000718.4(CACNA1B):c.4585-12C>G
NM_000718.4(CACNA1B):c.4585-4C>G
NM_000718.4(CACNA1B):c.4593C>T (p.Phe1531=)
NM_000718.4(CACNA1B):c.4602C>T (p.Ala1534=)
NM_000718.4(CACNA1B):c.4656A>T (p.Val1552=)
NM_000718.4(CACNA1B):c.4668+11_4668+22del
NM_000718.4(CACNA1B):c.4669-19A>G
NM_000718.4(CACNA1B):c.4669-8A>C
NM_000718.4(CACNA1B):c.4674+11C>T
NM_000718.4(CACNA1B):c.4674+12G>A
NM_000718.4(CACNA1B):c.4674+14C>G
NM_000718.4(CACNA1B):c.4674+16C>T
NM_000718.4(CACNA1B):c.4674+18G>C
NM_000718.4(CACNA1B):c.4675-11C>T
NM_000718.4(CACNA1B):c.4675-18A>G
NM_000718.4(CACNA1B):c.4675-6C>T
NM_000718.4(CACNA1B):c.4710T>C (p.Phe1570=)
NM_000718.4(CACNA1B):c.4725G>A (p.Leu1575=)
NM_000718.4(CACNA1B):c.4728C>A (p.Ile1576=)
NM_000718.4(CACNA1B):c.4749C>T (p.Tyr1583=)
NM_000718.4(CACNA1B):c.4779C>T (p.Val1593=)
NM_000718.4(CACNA1B):c.4782G>A (p.Gln1594=)
NM_000718.4(CACNA1B):c.4785C>T (p.Ser1595=)
NM_000718.4(CACNA1B):c.4791+12G>C
NM_000718.4(CACNA1B):c.4791+16G>A
NM_000718.4(CACNA1B):c.4791+19C>T
NM_000718.4(CACNA1B):c.4791+9G>C
NM_000718.4(CACNA1B):c.4792-13C>A
NM_000718.4(CACNA1B):c.4792-15C>A
NM_000718.4(CACNA1B):c.4792-4G>A
NM_000718.4(CACNA1B):c.4792-5C>T
NM_000718.4(CACNA1B):c.4792-6C>T
NM_000718.4(CACNA1B):c.4800C>T (p.Pro1600=)
NM_000718.4(CACNA1B):c.4803C>T (p.Tyr1601=)
NM_000718.4(CACNA1B):c.4839C>T (p.Tyr1613=)
NM_000718.4(CACNA1B):c.4851C>T (p.Gly1617=)
NM_000718.4(CACNA1B):c.4857+192dup rs374889294
NM_000718.4(CACNA1B):c.4858-13T>C
NM_000718.4(CACNA1B):c.4858-15T>C
NM_000718.4(CACNA1B):c.4858-7A>G
NM_000718.4(CACNA1B):c.4858-7A>T
NM_000718.4(CACNA1B):c.4858-9C>T
NM_000718.4(CACNA1B):c.4876C>T (p.Leu1626=)
NM_000718.4(CACNA1B):c.4920G>A (p.Thr1640=)
NM_000718.4(CACNA1B):c.4926G>A (p.Leu1642=)
NM_000718.4(CACNA1B):c.4939C>T (p.Leu1647=)
NM_000718.4(CACNA1B):c.4942C>T (p.Leu1648=)
NM_000718.4(CACNA1B):c.4949+11C>A
NM_000718.4(CACNA1B):c.4949+11C>T
NM_000718.4(CACNA1B):c.4949+12G>A
NM_000718.4(CACNA1B):c.4949+13G>A
NM_000718.4(CACNA1B):c.4949+19C>T
NM_000718.4(CACNA1B):c.4949+261C>T rs72769086
NM_000718.4(CACNA1B):c.4949+7T>C
NM_000718.4(CACNA1B):c.4949+8_4949+10del
NM_000718.4(CACNA1B):c.4949+9T>C
NM_000718.4(CACNA1B):c.4950-11C>T
NM_000718.4(CACNA1B):c.4950-12C>T
NM_000718.4(CACNA1B):c.4950-6_4950-4del
NM_000718.4(CACNA1B):c.4953C>T (p.Ser1651=)
NM_000718.4(CACNA1B):c.4962G>A (p.Gly1654=)
NM_000718.4(CACNA1B):c.4974C>T (p.His1658=)
NM_000718.4(CACNA1B):c.4977G>A (p.Glu1659=)
NM_000718.4(CACNA1B):c.4986G>C (p.Leu1662=)
NM_000718.4(CACNA1B):c.4992C>T (p.Cys1664=)
NM_000718.4(CACNA1B):c.4993C>T (p.Leu1665=)
NM_000718.4(CACNA1B):c.4995G>A (p.Leu1665=)
NM_000718.4(CACNA1B):c.5001C>T (p.Asn1667=)
NM_000718.4(CACNA1B):c.5052C>T (p.Ala1684=)
NM_000718.4(CACNA1B):c.5064C>T (p.Phe1688=)
NM_000718.4(CACNA1B):c.5070C>G (p.Ser1690=)
NM_000718.4(CACNA1B):c.5094+15C>T
NM_000718.4(CACNA1B):c.5094+7C>T
NM_000718.4(CACNA1B):c.5145G>A (p.Thr1715=)
NM_000718.4(CACNA1B):c.5161C>T (p.Leu1721=)
NM_000718.4(CACNA1B):c.5187C>T (p.Phe1729=)
NM_000718.4(CACNA1B):c.5193G>A (p.Arg1731=)
NM_000718.4(CACNA1B):c.5208C>T (p.Tyr1736=)
NM_000718.4(CACNA1B):c.5220G>A (p.Ala1740=)
NM_000718.4(CACNA1B):c.5220G>C (p.Ala1740=)
NM_000718.4(CACNA1B):c.5222+10_5222+11insTGAATACGA
NM_000718.4(CACNA1B):c.5222+12G>C
NM_000718.4(CACNA1B):c.5222+12GTG[3]
NM_000718.4(CACNA1B):c.5222+13T>C
NM_000718.4(CACNA1B):c.5222+14G>A
NM_000718.4(CACNA1B):c.5222+17G>A
NM_000718.4(CACNA1B):c.5222+8A>G
NM_000718.4(CACNA1B):c.5222+9G>A
NM_000718.4(CACNA1B):c.5223-11C>T
NM_000718.4(CACNA1B):c.5223-11dup
NM_000718.4(CACNA1B):c.5223-18G>A rs769647629
NM_000718.4(CACNA1B):c.5223-19C>T
NM_000718.4(CACNA1B):c.5223-92C>T rs141268739
NM_000718.4(CACNA1B):c.5240A>G (p.Asn1747Ser)
NM_000718.4(CACNA1B):c.5244C>T (p.Asp1748=)
NM_000718.4(CACNA1B):c.5274G>A (p.Pro1758=)
NM_000718.4(CACNA1B):c.5283G>A (p.Gly1761=)
NM_000718.4(CACNA1B):c.5289G>A (p.Gly1763=)
NM_000718.4(CACNA1B):c.5301T>C (p.Pro1767=)
NM_000718.4(CACNA1B):c.531-14C>T
NM_000718.4(CACNA1B):c.531-15_531-13del
NM_000718.4(CACNA1B):c.531-19T>C
NM_000718.4(CACNA1B):c.5319+12C>T
NM_000718.4(CACNA1B):c.5319+7C>T
NM_000718.4(CACNA1B):c.5320-12G>C
NM_000718.4(CACNA1B):c.5320-13T>G
NM_000718.4(CACNA1B):c.5320-14C>A
NM_000718.4(CACNA1B):c.5320-19C>T
NM_000718.4(CACNA1B):c.5325G>A (p.Leu1775=)
NM_000718.4(CACNA1B):c.5352C>T (p.Asn1784=)
NM_000718.4(CACNA1B):c.5364T>G (p.Thr1788=)
NM_000718.4(CACNA1B):c.5376G>A (p.Thr1792=)
NM_000718.4(CACNA1B):c.5382G>A (p.Thr1794=)
NM_000718.4(CACNA1B):c.5391C>G (p.Ala1797=)
NM_000718.4(CACNA1B):c.5407C>T (p.Leu1803=)
NM_000718.4(CACNA1B):c.5419C>T (p.Leu1807=)
NM_000718.4(CACNA1B):c.5421G>A (p.Leu1807=)
NM_000718.4(CACNA1B):c.5424C>T (p.Ala1808=)
NM_000718.4(CACNA1B):c.5428+11C>T
NM_000718.4(CACNA1B):c.5428+17C>T
NM_000718.4(CACNA1B):c.5428+18G>A
NM_000718.4(CACNA1B):c.5429-15A>G
NM_000718.4(CACNA1B):c.5429-20C>T
NM_000718.4(CACNA1B):c.5429-8T>C
NM_000718.4(CACNA1B):c.543G>A (p.Thr181=)
NM_000718.4(CACNA1B):c.5454C>T (p.Asp1818=)
NM_000718.4(CACNA1B):c.5457G>A (p.Ala1819=)
NM_000718.4(CACNA1B):c.5457G>C (p.Ala1819=)
NM_000718.4(CACNA1B):c.5461T>C (p.Leu1821=)
NM_000718.4(CACNA1B):c.5478C>T (p.Ser1826=)
NM_000718.4(CACNA1B):c.5499C>G (p.Pro1833=)
NM_000718.4(CACNA1B):c.5505G>A (p.Lys1835=)
NM_000718.4(CACNA1B):c.5529C>T (p.Pro1843=)
NM_000718.4(CACNA1B):c.5536+20A>G
NM_000718.4(CACNA1B):c.5536+8T>A
NM_000718.4(CACNA1B):c.5537-14G>A
NM_000718.4(CACNA1B):c.5537-163C>G rs77668191
NM_000718.4(CACNA1B):c.5537-16C>G
NM_000718.4(CACNA1B):c.5537-17C>T
NM_000718.4(CACNA1B):c.5537-20A>C
NM_000718.4(CACNA1B):c.5537-20A>G
NM_000718.4(CACNA1B):c.5537-5T>C
NM_000718.4(CACNA1B):c.5537-8T>A
NM_000718.4(CACNA1B):c.5553G>A (p.Val1851=)
NM_000718.4(CACNA1B):c.5559G>A (p.Lys1853=)
NM_000718.4(CACNA1B):c.5560G>A (p.Val1854Ile) rs148799345
NM_000718.4(CACNA1B):c.5571T>C (p.Ala1857=)
NM_000718.4(CACNA1B):c.5574G>A (p.Leu1858=)
NM_000718.4(CACNA1B):c.5586C>T (p.Asp1862=)
NM_000718.4(CACNA1B):c.558C>T (p.Phe186=)
NM_000718.4(CACNA1B):c.561C>T (p.Asp187=)
NM_000718.4(CACNA1B):c.5638G>A (p.Gly1880Ser)
NM_000718.4(CACNA1B):c.5643C>T (p.Leu1881=)
NM_000718.4(CACNA1B):c.5646C>A (p.Ser1882=)
NM_000718.4(CACNA1B):c.5649+13C>T
NM_000718.4(CACNA1B):c.5649+9C>T
NM_000718.4(CACNA1B):c.5650-12C>T
NM_000718.4(CACNA1B):c.5650-17C>T
NM_000718.4(CACNA1B):c.5650-20T>C
NM_000718.4(CACNA1B):c.5650-5T>G
NM_000718.4(CACNA1B):c.5712G>A (p.Val1904=)
NM_000718.4(CACNA1B):c.5724C>T (p.Ala1908=)
NM_000718.4(CACNA1B):c.5736T>C (p.Leu1912=)
NM_000718.4(CACNA1B):c.5757C>T (p.Ser1919=)
NM_000718.4(CACNA1B):c.5769C>T (p.Gly1923=)
NM_000718.4(CACNA1B):c.5772G>A (p.Gly1924=)
NM_000718.4(CACNA1B):c.5777+20A>T
NM_000718.4(CACNA1B):c.5778-10T>C
NM_000718.4(CACNA1B):c.5778-13T>G
NM_000718.4(CACNA1B):c.5778-14C>A
NM_000718.4(CACNA1B):c.5778-157C>T
NM_000718.4(CACNA1B):c.5778-18T>G
NM_000718.4(CACNA1B):c.5778-5C>T
NM_000718.4(CACNA1B):c.5805G>A (p.Glu1935=)
NM_000718.4(CACNA1B):c.5835G>A (p.Gln1945=)
NM_000718.4(CACNA1B):c.5844C>G (p.Pro1948=)
NM_000718.4(CACNA1B):c.5889C>T (p.Ile1963=)
NM_000718.4(CACNA1B):c.588G>A (p.Val196=)
NM_000718.4(CACNA1B):c.5911C>T (p.Leu1971=)
NM_000718.4(CACNA1B):c.5913+12C>T
NM_000718.4(CACNA1B):c.5913+12del
NM_000718.4(CACNA1B):c.5913+13G>A
NM_000718.4(CACNA1B):c.5913+17G>A
NM_000718.4(CACNA1B):c.5913+18C>A
NM_000718.4(CACNA1B):c.5913+19T>C
NM_000718.4(CACNA1B):c.5913+20A>G
NM_000718.4(CACNA1B):c.5913+7A>T
NM_000718.4(CACNA1B):c.5914-10G>A
NM_000718.4(CACNA1B):c.5914-12C>T
NM_000718.4(CACNA1B):c.5914-17G>A
NM_000718.4(CACNA1B):c.5914-19G>A
NM_000718.4(CACNA1B):c.5914-20G>A
NM_000718.4(CACNA1B):c.5914-218C>T
NM_000718.4(CACNA1B):c.5916T>C (p.Ala1972=)
NM_000718.4(CACNA1B):c.5944C>A (p.Arg1982=)
NM_000718.4(CACNA1B):c.5945G>A (p.Arg1982Gln)
NM_000718.4(CACNA1B):c.594G>A (p.Arg198=)
NM_000718.4(CACNA1B):c.5967C>G (p.Pro1989=)
NM_000718.4(CACNA1B):c.597C>A (p.Pro199=)
NM_000718.4(CACNA1B):c.5997G>T (p.Ala1999=)
NM_000718.4(CACNA1B):c.6000C>T (p.Ala2000=)
NM_000718.4(CACNA1B):c.6003C>T (p.Ser2001=)
NM_000718.4(CACNA1B):c.6018G>A (p.Ala2006=)
NM_000718.4(CACNA1B):c.6021C>T (p.Ala2007=)
NM_000718.4(CACNA1B):c.6030+42G>C rs34196125
NM_000718.4(CACNA1B):c.6030+7G>T
NM_000718.4(CACNA1B):c.6031-105G>A rs573649169
NM_000718.4(CACNA1B):c.6031-17C>T
NM_000718.4(CACNA1B):c.6031-7C>T
NM_000718.4(CACNA1B):c.6050C>T (p.Pro2017Leu)
NM_000718.4(CACNA1B):c.6066C>T (p.Ile2022=)
NM_000718.4(CACNA1B):c.6081G>A (p.Gln2027=)
NM_000718.4(CACNA1B):c.6083G>A (p.Arg2028Gln)
NM_000718.4(CACNA1B):c.6108C>T (p.Ser2036=)
NM_000718.4(CACNA1B):c.6114C>G (p.Thr2038=)
NM_000718.4(CACNA1B):c.6117G>A (p.Pro2039=)
NM_000718.4(CACNA1B):c.6121C>T (p.Arg2041Cys)
NM_000718.4(CACNA1B):c.6122G>A (p.Arg2041His)
NM_000718.4(CACNA1B):c.6126A>G (p.Pro2042=)
NM_000718.4(CACNA1B):c.6129C>A (p.Pro2043=)
NM_000718.4(CACNA1B):c.6141G>A (p.Ala2047=)
NM_000718.4(CACNA1B):c.6174C>T (p.Arg2058=)
NM_000718.4(CACNA1B):c.6178A>C (p.Arg2060=)
NM_000718.4(CACNA1B):c.6179G>A (p.Arg2060Lys)
NM_000718.4(CACNA1B):c.6207G>A (p.Lys2069=)
NM_000718.4(CACNA1B):c.6210G>T (p.Gly2070=)
NM_000718.4(CACNA1B):c.622+11C>T
NM_000718.4(CACNA1B):c.622+12G>A
NM_000718.4(CACNA1B):c.622+20G>A
NM_000718.4(CACNA1B):c.6226G>A (p.Asp2076Asn)
NM_000718.4(CACNA1B):c.623-13G>A
NM_000718.4(CACNA1B):c.623-13G>T
NM_000718.4(CACNA1B):c.623-15C>A
NM_000718.4(CACNA1B):c.623-4C>G
NM_000718.4(CACNA1B):c.6238+17C>T
NM_000718.4(CACNA1B):c.6238+9G>A
NM_000718.4(CACNA1B):c.6239-14T>C
NM_000718.4(CACNA1B):c.6239-15C>T
NM_000718.4(CACNA1B):c.6239-16_6239-14del
NM_000718.4(CACNA1B):c.6239-19T>C
NM_000718.4(CACNA1B):c.6239-4C>A
NM_000718.4(CACNA1B):c.6239-8C>T
NM_000718.4(CACNA1B):c.6273G>A (p.Pro2091=)
NM_000718.4(CACNA1B):c.6276A>G (p.Gly2092=)
NM_000718.4(CACNA1B):c.6282G>A (p.Gly2094=)
NM_000718.4(CACNA1B):c.6300G>A (p.Arg2100=)
NM_000718.4(CACNA1B):c.6312C>G (p.Arg2104=)
NM_000718.4(CACNA1B):c.6357C>A (p.Ser2119=)
NM_000718.4(CACNA1B):c.6360C>T (p.Ser2120=)
NM_000718.4(CACNA1B):c.6366G>A (p.Ser2122=)
NM_000718.4(CACNA1B):c.6372G>A (p.Lys2124=)
NM_000718.4(CACNA1B):c.6378C>T (p.Arg2126=)
NM_000718.4(CACNA1B):c.6390C>T (p.Cys2130=)
NM_000718.4(CACNA1B):c.6396C>A (p.Arg2132=)
NM_000718.4(CACNA1B):c.639C>G (p.Leu213=)
NM_000718.4(CACNA1B):c.6417G>A (p.Pro2139=)
NM_000718.4(CACNA1B):c.6435C>T (p.Leu2145=)
NM_000718.4(CACNA1B):c.6438C>T (p.Ser2146=)
NM_000718.4(CACNA1B):c.6450G>A (p.Thr2150=)
NM_000718.4(CACNA1B):c.6453G>A (p.Ser2151=)
NM_000718.4(CACNA1B):c.6453G>T (p.Ser2151=)
NM_000718.4(CACNA1B):c.6471G>A (p.Glu2157=)
NM_000718.4(CACNA1B):c.6474G>A (p.Pro2158=)
NM_000718.4(CACNA1B):c.6474G>C (p.Pro2158=)
NM_000718.4(CACNA1B):c.6489+10A>G
NM_000718.4(CACNA1B):c.6489+11T>C
NM_000718.4(CACNA1B):c.6489+14G>C
NM_000718.4(CACNA1B):c.6489+156G>A rs79614828
NM_000718.4(CACNA1B):c.6489+17G>A
NM_000718.4(CACNA1B):c.6489+7G>A
NM_000718.4(CACNA1B):c.6490-12A>G
NM_000718.4(CACNA1B):c.6490-13C>T
NM_000718.4(CACNA1B):c.6490-14C>T
NM_000718.4(CACNA1B):c.6490-16G>T
NM_000718.4(CACNA1B):c.6490-18T>C
NM_000718.4(CACNA1B):c.6490-19C>G
NM_000718.4(CACNA1B):c.6490-4G>A
NM_000718.4(CACNA1B):c.6490-4G>T
NM_000718.4(CACNA1B):c.6490-98A>T rs76155659
NM_000718.4(CACNA1B):c.6501C>T (p.Ser2167=)
NM_000718.4(CACNA1B):c.6546C>T (p.Pro2182=)
NM_000718.4(CACNA1B):c.6579G>A (p.Thr2193=)
NM_000718.4(CACNA1B):c.6597C>A (p.Pro2199=)
NM_000718.4(CACNA1B):c.6606C>T (p.Thr2202=)
NM_000718.4(CACNA1B):c.6639C>T (p.Phe2213=)
NM_000718.4(CACNA1B):c.6699C>T (p.Ser2233=)
NM_000718.4(CACNA1B):c.6708C>T (p.Asn2236=)
NM_000718.4(CACNA1B):c.6711C>G (p.Ala2237=)
NM_000718.4(CACNA1B):c.6726C>T (p.Asp2242=)
NM_000718.4(CACNA1B):c.6732C>T (p.Leu2244=)
NM_000718.4(CACNA1B):c.6747C>T (p.Ala2249=)
NM_000718.4(CACNA1B):c.6768T>A (p.Ser2256=)
NM_000718.4(CACNA1B):c.6771C>T (p.Asp2257=)
NM_000718.4(CACNA1B):c.6778C>T (p.Leu2260=)
NM_000718.4(CACNA1B):c.6780G>A (p.Leu2260=)
NM_000718.4(CACNA1B):c.678T>C (p.Ile226=)
NM_000718.4(CACNA1B):c.6813C>T (p.His2271=)
NM_000718.4(CACNA1B):c.6816C>T (p.Ala2272=)
NM_000718.4(CACNA1B):c.6819G>C (p.Leu2273=)
NM_000718.4(CACNA1B):c.6825G>A (p.Glu2275=)
NM_000718.4(CACNA1B):c.6831T>A (p.Thr2277=)
NM_000718.4(CACNA1B):c.6831_6832inv (p.Leu2278Ile)
NM_000718.4(CACNA1B):c.6849T>A (p.Ala2283=)
NM_000718.4(CACNA1B):c.6855C>T (p.Ala2285=)
NM_000718.4(CACNA1B):c.6864G>A (p.Ser2288=)
NM_000718.4(CACNA1B):c.6873C>T (p.Ser2291=)
NM_000718.4(CACNA1B):c.6888C>T (p.Tyr2296=)
NM_000718.4(CACNA1B):c.6889G>A (p.Val2297Met) rs41290003
NM_000718.4(CACNA1B):c.6906C>A (p.Ser2302=)
NM_000718.4(CACNA1B):c.6933C>T (p.Pro2311=)
NM_000718.4(CACNA1B):c.6936C>T (p.Asn2312=)
NM_000718.4(CACNA1B):c.6948C>T (p.Cys2316=)
NM_000718.4(CACNA1B):c.6966G>A (p.Ser2322=)
NM_000718.4(CACNA1B):c.6969T>A (p.Gly2323=)
NM_000718.4(CACNA1B):c.6978A>C (p.Ala2326=)
NM_000718.4(CACNA1B):c.6984C>T (p.His2328=)
NM_000718.4(CACNA1B):c.6C>G (p.Val2=)
NM_000718.4(CACNA1B):c.7020G>A (p.Ter2340=)
NM_000718.4(CACNA1B):c.744G>A (p.Lys248=)
NM_000718.4(CACNA1B):c.762C>T (p.Phe254=)
NM_000718.4(CACNA1B):c.768C>T (p.Asn256=)
NM_000718.4(CACNA1B):c.775+18C>G
NM_000718.4(CACNA1B):c.775+18C>T
NM_000718.4(CACNA1B):c.775+41G>A rs11137301
NM_000718.4(CACNA1B):c.776-11C>T
NM_000718.4(CACNA1B):c.776-14T>C
NM_000718.4(CACNA1B):c.780G>A (p.Ala260=)
NM_000718.4(CACNA1B):c.786C>T (p.Pro262=)
NM_000718.4(CACNA1B):c.801C>A (p.Pro267=)
NM_000718.4(CACNA1B):c.807C>T (p.Gly269=)
NM_000718.4(CACNA1B):c.816C>A (p.Ala272=)
NM_000718.4(CACNA1B):c.837C>T (p.Gly279=)
NM_000718.4(CACNA1B):c.840C>T (p.Asp280=)
NM_000718.4(CACNA1B):c.882C>A (p.Ile294=)
NM_000718.4(CACNA1B):c.903G>C (p.Leu301=)
NM_000718.4(CACNA1B):c.966+10G>A
NM_000718.4(CACNA1B):c.966+15G>A
NM_000718.4(CACNA1B):c.966+18C>T
NM_000718.4(CACNA1B):c.966+23_966+41del
NM_000718.4(CACNA1B):c.966+9C>G
NM_000718.4(CACNA1B):c.966+9C>T
NM_000718.4(CACNA1B):c.966T>C (p.Asn322=)
NM_000718.4(CACNA1B):c.967-12C>G
NM_000718.4(CACNA1B):c.967-4C>T
NM_000718.4(CACNA1B):c.967-8G>C
NM_000718.4(CACNA1B):c.972C>T (p.Asn324=)
NM_000718.4(CACNA1B):c.978G>A (p.Ala326=)
NM_000718.4(CACNA1B):c.981C>T (p.Ala327=)
NM_000718.4(CACNA1B):c.996C>T (p.Asn332=)

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.