Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.53702698G>ACA433829401CACNA1Dc.1278G>A (p.Arg426=)
c.518G>A
c.1350G>A (p.Arg450=)
c.1251G>A (p.Arg417=)
c.335G>A
c.297G>A (p.Arg99=)
c.1389G>A (p.Arg463=)
c.852G>A (p.Arg284=)
c.477G>A (p.Arg159=)
3g.53702698G>CCA433829402CACNA1Dc.1278G>C (p.Arg426=)
c.518G>C
c.1350G>C (p.Arg450=)
c.1251G>C (p.Arg417=)
c.335G>C
c.297G>C (p.Arg99=)
c.1389G>C (p.Arg463=)
c.852G>C (p.Arg284=)
c.477G>C (p.Arg159=)
3g.53702698G=CA1365440066CACNA1Dc.1278G= (p.Arg426=)
c.518G=
c.1350G= (p.Arg450=)
c.1251G= (p.Arg417=)
c.335G=
c.297G= (p.Arg99=)
c.1389G= (p.Arg463=)
c.852G= (p.Arg284=)
c.477G= (p.Arg159=)
3g.53702698G>TCA433829403CACNA1Dc.1278G>T (p.Arg426=)
c.518G>T
c.1350G>T (p.Arg450=)
c.1251G>T (p.Arg417=)
c.335G>T
c.297G>T (p.Arg99=)
c.1389G>T (p.Arg463=)
c.852G>T (p.Arg284=)
c.477G>T (p.Arg159=)
dbSNP
3g.53702699G>ACA353384366CACNA1Dc.1279G>A (p.Glu427Lys)
c.519G>A
c.1351G>A (p.Glu451Lys)
c.1252G>A (p.Glu418Lys)
c.336G>A
c.298G>A (p.Glu100Lys)
c.1390G>A (p.Glu464Lys)
c.853G>A (p.Glu285Lys)
c.478G>A (p.Glu160Lys)
3g.53702699G>CCA353384364CACNA1Dc.1279G>C (p.Glu427Gln)
c.519G>C
c.1351G>C (p.Glu451Gln)
c.1252G>C (p.Glu418Gln)
c.336G>C
c.298G>C (p.Glu100Gln)
c.1390G>C (p.Glu464Gln)
c.853G>C (p.Glu285Gln)
c.478G>C (p.Glu160Gln)
3g.53702699G>TCA353384365CACNA1Dc.1279G>T (p.Glu427Ter)
c.519G>T
c.1351G>T (p.Glu451Ter)
c.1252G>T (p.Glu418Ter)
c.336G>T
c.298G>T (p.Glu100Ter)
c.1390G>T (p.Glu464Ter)
c.853G>T (p.Glu285Ter)
c.478G>T (p.Glu160Ter)
3g.53702700A>CCA353384367CACNA1Dc.1280A>C (p.Glu427Ala)
c.520A>C
c.1352A>C (p.Glu451Ala)
c.1253A>C (p.Glu418Ala)
c.337A>C
c.299A>C (p.Glu100Ala)
c.1391A>C (p.Glu464Ala)
c.854A>C (p.Glu285Ala)
c.479A>C (p.Glu160Ala)
3g.53702700A>GCA353384368CACNA1Dc.1280A>G (p.Glu427Gly)
c.520A>G
c.1352A>G (p.Glu451Gly)
c.1253A>G (p.Glu418Gly)
c.337A>G
c.299A>G (p.Glu100Gly)
c.1391A>G (p.Glu464Gly)
c.854A>G (p.Glu285Gly)
c.479A>G (p.Glu160Gly)
3g.53702700A>TCA353384369CACNA1Dc.1280A>T (p.Glu427Val)
c.520A>T
c.1352A>T (p.Glu451Val)
c.1253A>T (p.Glu418Val)
c.337A>T
c.299A>T (p.Glu100Val)
c.1391A>T (p.Glu464Val)
c.854A>T (p.Glu285Val)
c.479A>T (p.Glu160Val)
3g.53702701G>ACA433829404CACNA1Dc.1281G>A (p.Glu427=)
c.521G>A
c.1353G>A (p.Glu451=)
c.1254G>A (p.Glu418=)
c.338G>A
c.300G>A (p.Glu100=)
c.1392G>A (p.Glu464=)
c.855G>A (p.Glu285=)
c.480G>A (p.Glu160=)
3g.53702701G>CCA353384370CACNA1Dc.1281G>C (p.Glu427Asp)
c.521G>C
c.1353G>C (p.Glu451Asp)
c.1254G>C (p.Glu418Asp)
c.338G>C
c.300G>C (p.Glu100Asp)
c.1392G>C (p.Glu464Asp)
c.855G>C (p.Glu285Asp)
c.480G>C (p.Glu160Asp)
3g.53702701G>TCA353384371CACNA1Dc.1281G>T (p.Glu427Asp)
c.521G>T
c.1353G>T (p.Glu451Asp)
c.1254G>T (p.Glu418Asp)
c.338G>T
c.300G>T (p.Glu100Asp)
c.1392G>T (p.Glu464Asp)
c.855G>T (p.Glu285Asp)
c.480G>T (p.Glu160Asp)
3g.53702702A=CA1365440067CACNA1Dc.1282A= (p.Lys428=)
c.522A=
c.1354A= (p.Lys452=)
c.1255A= (p.Lys419=)
c.339A=
c.301A= (p.Lys101=)
c.1393A= (p.Lys465=)
c.856A= (p.Lys286=)
c.481A= (p.Lys161=)
3g.53702702A>CCA353384374CACNA1Dc.1282A>C (p.Lys428Gln)
c.522A>C
c.1354A>C (p.Lys452Gln)
c.1255A>C (p.Lys419Gln)
c.339A>C
c.301A>C (p.Lys101Gln)
c.1393A>C (p.Lys465Gln)
c.856A>C (p.Lys286Gln)
c.481A>C (p.Lys161Gln)
3g.53702702A>GCA353384373CACNA1Dc.1282A>G (p.Lys428Glu)
c.522A>G
c.1354A>G (p.Lys452Glu)
c.1255A>G (p.Lys419Glu)
c.339A>G
c.301A>G (p.Lys101Glu)
c.1393A>G (p.Lys465Glu)
c.856A>G (p.Lys286Glu)
c.481A>G (p.Lys161Glu)
dbSNP gnomAD v3 gnomAD v4
3g.53702702A>TCA353384372CACNA1Dc.1282A>T (p.Lys428Ter)
c.522A>T
c.1354A>T (p.Lys452Ter)
c.1255A>T (p.Lys419Ter)
c.339A>T
c.301A>T (p.Lys101Ter)
c.1393A>T (p.Lys465Ter)
c.856A>T (p.Lys286Ter)
c.481A>T (p.Lys161Ter)
3g.53702703A>CCA353384375CACNA1Dc.1283A>C (p.Lys428Thr)
c.523A>C
c.1355A>C (p.Lys452Thr)
c.1256A>C (p.Lys419Thr)
c.340A>C
c.302A>C (p.Lys101Thr)
c.1394A>C (p.Lys465Thr)
c.857A>C (p.Lys286Thr)
c.482A>C (p.Lys161Thr)
3g.53702703A>GCA353384376CACNA1Dc.1283A>G (p.Lys428Arg)
c.523A>G
c.1355A>G (p.Lys452Arg)
c.1256A>G (p.Lys419Arg)
c.340A>G
c.302A>G (p.Lys101Arg)
c.1394A>G (p.Lys465Arg)
c.857A>G (p.Lys286Arg)
c.482A>G (p.Lys161Arg)
3g.53702703A>TCA353384377CACNA1Dc.1283A>T (p.Lys428Met)
c.523A>T
c.1355A>T (p.Lys452Met)
c.1256A>T (p.Lys419Met)
c.340A>T
c.302A>T (p.Lys101Met)
c.1394A>T (p.Lys465Met)
c.857A>T (p.Lys286Met)
c.482A>T (p.Lys161Met)
3g.53702704G>ACA433829405CACNA1Dc.1284G>A (p.Lys428=)
c.524G>A
c.1356G>A (p.Lys452=)
c.1257G>A (p.Lys419=)
c.341G>A
c.303G>A (p.Lys101=)
c.1395G>A (p.Lys465=)
c.858G>A (p.Lys286=)
c.483G>A (p.Lys161=)
3g.53702704G>CCA353384378CACNA1Dc.1284G>C (p.Lys428Asn)
c.524G>C
c.1356G>C (p.Lys452Asn)
c.1257G>C (p.Lys419Asn)
c.341G>C
c.303G>C (p.Lys101Asn)
c.1395G>C (p.Lys465Asn)
c.858G>C (p.Lys286Asn)
c.483G>C (p.Lys161Asn)
3g.53702704G>TCA353384379CACNA1Dc.1284G>T (p.Lys428Asn)
c.524G>T
c.1356G>T (p.Lys452Asn)
c.1257G>T (p.Lys419Asn)
c.341G>T
c.303G>T (p.Lys101Asn)
c.1395G>T (p.Lys465Asn)
c.858G>T (p.Lys286Asn)
c.483G>T (p.Lys161Asn)
3g.53702705C>ACA353384380CACNA1Dc.1285C>A (p.Gln429Lys)
c.525C>A
c.1357C>A (p.Gln453Lys)
c.1258C>A (p.Gln420Lys)
c.342C>A
c.304C>A (p.Gln102Lys)
c.1396C>A (p.Gln466Lys)
c.859C>A (p.Gln287Lys)
c.484C>A (p.Gln162Lys)
3g.53702705C>GCA353384381CACNA1Dc.1285C>G (p.Gln429Glu)
c.525C>G
c.1357C>G (p.Gln453Glu)
c.1258C>G (p.Gln420Glu)
c.342C>G
c.304C>G (p.Gln102Glu)
c.1396C>G (p.Gln466Glu)
c.859C>G (p.Gln287Glu)
c.484C>G (p.Gln162Glu)
3g.53702705C>TCA353384382CACNA1Dc.1285C>T (p.Gln429Ter)
c.525C>T
c.1357C>T (p.Gln453Ter)
c.1258C>T (p.Gln420Ter)
c.342C>T
c.304C>T (p.Gln102Ter)
c.1396C>T (p.Gln466Ter)
c.859C>T (p.Gln287Ter)
c.484C>T (p.Gln162Ter)
3g.53702706A>CCA353384383CACNA1Dc.1286A>C (p.Gln429Pro)
c.526A>C
c.1358A>C (p.Gln453Pro)
c.1259A>C (p.Gln420Pro)
c.343A>C
c.305A>C (p.Gln102Pro)
c.1397A>C (p.Gln466Pro)
c.860A>C (p.Gln287Pro)
c.485A>C (p.Gln162Pro)
3g.53702706A>GCA353384384CACNA1Dc.1286A>G (p.Gln429Arg)
c.526A>G
c.1358A>G (p.Gln453Arg)
c.1259A>G (p.Gln420Arg)
c.343A>G
c.305A>G (p.Gln102Arg)
c.1397A>G (p.Gln466Arg)
c.860A>G (p.Gln287Arg)
c.485A>G (p.Gln162Arg)
3g.53702706A>TCA353384385CACNA1Dc.1286A>T (p.Gln429Leu)
c.526A>T
c.1358A>T (p.Gln453Leu)
c.1259A>T (p.Gln420Leu)
c.343A>T
c.305A>T (p.Gln102Leu)
c.1397A>T (p.Gln466Leu)
c.860A>T (p.Gln287Leu)
c.485A>T (p.Gln162Leu)
3g.53702707G>ACA433829406CACNA1Dc.1287G>A (p.Gln429=)
c.527G>A
c.1359G>A (p.Gln453=)
c.1260G>A (p.Gln420=)
c.344G>A
c.306G>A (p.Gln102=)
c.1398G>A (p.Gln466=)
c.861G>A (p.Gln287=)
c.486G>A (p.Gln162=)
COSMIC COSMIC
3g.53702707G>CCA353384386CACNA1Dc.1287G>C (p.Gln429His)
c.527G>C
c.1359G>C (p.Gln453His)
c.1260G>C (p.Gln420His)
c.344G>C
c.306G>C (p.Gln102His)
c.1398G>C (p.Gln466His)
c.861G>C (p.Gln287His)
c.486G>C (p.Gln162His)
3g.53702707G>TCA353384387CACNA1Dc.1287G>T (p.Gln429His)
c.527G>T
c.1359G>T (p.Gln453His)
c.1260G>T (p.Gln420His)
c.344G>T
c.306G>T (p.Gln102His)
c.1398G>T (p.Gln466His)
c.861G>T (p.Gln287His)
c.486G>T (p.Gln162His)
3g.53702708C>ACA353384389CACNA1Dc.1288C>A (p.Gln430Lys)
c.528C>A
c.1360C>A (p.Gln454Lys)
c.1261C>A (p.Gln421Lys)
c.345C>A
c.307C>A (p.Gln103Lys)
c.1399C>A (p.Gln467Lys)
c.862C>A (p.Gln288Lys)
c.487C>A (p.Gln163Lys)
3g.53702708C>GCA353384390CACNA1Dc.1288C>G (p.Gln430Glu)
c.528C>G
c.1360C>G (p.Gln454Glu)
c.1261C>G (p.Gln421Glu)
c.345C>G
c.307C>G (p.Gln103Glu)
c.1399C>G (p.Gln467Glu)
c.862C>G (p.Gln288Glu)
c.487C>G (p.Gln163Glu)
3g.53702708C>TCA353384388CACNA1Dc.1288C>T (p.Gln430Ter)
c.528C>T
c.1360C>T (p.Gln454Ter)
c.1261C>T (p.Gln421Ter)
c.345C>T
c.307C>T (p.Gln103Ter)
c.1399C>T (p.Gln467Ter)
c.862C>T (p.Gln288Ter)
c.487C>T (p.Gln163Ter)
3g.53702709A>CCA353384391CACNA1Dc.1289A>C (p.Gln430Pro)
c.529A>C
c.1361A>C (p.Gln454Pro)
c.1262A>C (p.Gln421Pro)
c.346A>C
c.308A>C (p.Gln103Pro)
c.1400A>C (p.Gln467Pro)
c.863A>C (p.Gln288Pro)
c.488A>C (p.Gln163Pro)
3g.53702709A>GCA353384392CACNA1Dc.1289A>G (p.Gln430Arg)
c.529A>G
c.1361A>G (p.Gln454Arg)
c.1262A>G (p.Gln421Arg)
c.346A>G
c.308A>G (p.Gln103Arg)
c.1400A>G (p.Gln467Arg)
c.863A>G (p.Gln288Arg)
c.488A>G (p.Gln163Arg)
3g.53702709A>TCA353384393CACNA1Dc.1289A>T (p.Gln430Leu)
c.529A>T
c.1361A>T (p.Gln454Leu)
c.1262A>T (p.Gln421Leu)
c.346A>T
c.308A>T (p.Gln103Leu)
c.1400A>T (p.Gln467Leu)
c.863A>T (p.Gln288Leu)
c.488A>T (p.Gln163Leu)
3g.53702710G>ACA433829407CACNA1Dc.1290G>A (p.Gln430=)
c.530G>A
c.1362G>A (p.Gln454=)
c.1263G>A (p.Gln421=)
c.347G>A
c.309G>A (p.Gln103=)
c.1401G>A (p.Gln467=)
c.864G>A (p.Gln288=)
c.489G>A (p.Gln163=)
3g.53702710G>CCA353384394CACNA1Dc.1290G>C (p.Gln430His)
c.530G>C
c.1362G>C (p.Gln454His)
c.1263G>C (p.Gln421His)
c.347G>C
c.309G>C (p.Gln103His)
c.1401G>C (p.Gln467His)
c.864G>C (p.Gln288His)
c.489G>C (p.Gln163His)
3g.53702710G>TCA353384395CACNA1Dc.1290G>T (p.Gln430His)
c.530G>T
c.1362G>T (p.Gln454His)
c.1263G>T (p.Gln421His)
c.347G>T
c.309G>T (p.Gln103His)
c.1401G>T (p.Gln467His)
c.864G>T (p.Gln288His)
c.489G>T (p.Gln163His)
3g.53702711C>ACA353384397CACNA1Dc.1291C>A (p.Leu431Met)
c.531C>A
c.1363C>A (p.Leu455Met)
c.1264C>A (p.Leu422Met)
c.348C>A
c.310C>A (p.Leu104Met)
c.1402C>A (p.Leu468Met)
c.865C>A (p.Leu289Met)
c.490C>A (p.Leu164Met)
3g.53702711C>GCA353384396CACNA1Dc.1291C>G (p.Leu431Val)
c.531C>G
c.1363C>G (p.Leu455Val)
c.1264C>G (p.Leu422Val)
c.348C>G
c.310C>G (p.Leu104Val)
c.1402C>G (p.Leu468Val)
c.865C>G (p.Leu289Val)
c.490C>G (p.Leu164Val)
3g.53702711C>TCA433829408CACNA1Dc.1291C>T (p.Leu431=)
c.531C>T
c.1363C>T (p.Leu455=)
c.1264C>T (p.Leu422=)
c.348C>T
c.310C>T (p.Leu104=)
c.1402C>T (p.Leu468=)
c.865C>T (p.Leu289=)
c.490C>T (p.Leu164=)
3g.53702712T>ACA353384398CACNA1Dc.1292T>A (p.Leu431Gln)
c.532T>A
c.1364T>A (p.Leu455Gln)
c.1265T>A (p.Leu422Gln)
c.349T>A
c.311T>A (p.Leu104Gln)
c.1403T>A (p.Leu468Gln)
c.866T>A (p.Leu289Gln)
c.491T>A (p.Leu164Gln)
3g.53702712T>CCA353384399CACNA1Dc.1292T>C (p.Leu431Pro)
c.532T>C
c.1364T>C (p.Leu455Pro)
c.1265T>C (p.Leu422Pro)
c.349T>C
c.311T>C (p.Leu104Pro)
c.1403T>C (p.Leu468Pro)
c.866T>C (p.Leu289Pro)
c.491T>C (p.Leu164Pro)
3g.53702712T>GCA353384400CACNA1Dc.1292T>G (p.Leu431Arg)
c.532T>G
c.1364T>G (p.Leu455Arg)
c.1265T>G (p.Leu422Arg)
c.349T>G
c.311T>G (p.Leu104Arg)
c.1403T>G (p.Leu468Arg)
c.866T>G (p.Leu289Arg)
c.491T>G (p.Leu164Arg)
3g.53702713G>ACA433829409CACNA1Dc.1293G>A (p.Leu431=)
c.533G>A
c.1365G>A (p.Leu455=)
c.1266G>A (p.Leu422=)
c.350G>A
c.312G>A (p.Leu104=)
c.1404G>A (p.Leu468=)
c.867G>A (p.Leu289=)
c.492G>A (p.Leu164=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.53702713G>CCA75076520CACNA1Dc.1293G>C (p.Leu431=)
c.533G>C
c.1365G>C (p.Leu455=)
c.1266G>C (p.Leu422=)
c.350G>C
c.312G>C (p.Leu104=)
c.1404G>C (p.Leu468=)
c.867G>C (p.Leu289=)
c.492G>C (p.Leu164=)
dbSNP gnomAD v3 gnomAD v4
3g.53702713G=CA1365440068CACNA1Dc.1293G= (p.Leu431=)
c.533G=
c.1365G= (p.Leu455=)
c.1266G= (p.Leu422=)
c.350G=
c.312G= (p.Leu104=)
c.1404G= (p.Leu468=)
c.867G= (p.Leu289=)
c.492G= (p.Leu164=)

Number of alleles fetched