Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.2686121C>ACA2575046099CACNA1C,CACNA1C-AS1c.5756-45C>A (n.5756-45C>A)
c.5786-45C>A (n.5786-45C>A)
c.5861-45C>A (n.5861-45C>A)
c.5894-45C>A (n.5894-45C>A)
c.5723-45C>A (n.5723-45C>A)
c.5771-45C>A (n.5771-45C>A)
c.6020-45C>A (n.6020-45C>A)
c.5648-45C>A (n.5648-45C>A)
c.5681-45C>A (n.5681-45C>A)
c.5672-45C>A (n.5672-45C>A)
c.5846-45C>A (n.5846-45C>A)
n.806-45C>A
n.2184-45C>A
n.811-45C>A
c.5825-45C>A (n.5825-45C>A)
c.5804-45C>A (n.5804-45C>A)
c.5705-45C>A (n.5705-45C>A)
c.5741-45C>A (n.5741-45C>A)
c.5738-45C>A (n.5738-45C>A)
c.5732-45C>A (n.5732-45C>A)
c.5765-45C>A (n.5765-45C>A)
c.5699-45C>A (n.5699-45C>A)
c.5309-45C>A (n.5309-45C>A)
c.5453-45C>A (n.5453-45C>A)
c.5348-45C>A (n.5348-45C>A)
c.1754-45C>A (n.1754-45C>A)
c.5384-45C>A (n.5384-45C>A)
c.5930-45C>A (n.5930-45C>A)
n.333+4019G>T
c.5300-45C>A (n.5300-45C>A)
c.4745-45C>A (n.4745-45C>A)
c.2855-45C>A (n.2855-45C>A)
c.5999-45C>A (n.5999-45C>A)
c.6503-45C>A (n.6503-45C>A)
c.6398-45C>A (n.6398-45C>A)
c.6185-45C>A (n.6185-45C>A)
c.6128-45C>A (n.6128-45C>A)
c.6044-45C>A (n.6044-45C>A)
c.6029-45C>A (n.6029-45C>A)
c.5933-45C>A (n.5933-45C>A)
c.5924-45C>A (n.5924-45C>A)
c.5906-45C>A (n.5906-45C>A)
c.5900-45C>A (n.5900-45C>A)
c.5873-45C>A (n.5873-45C>A)
c.5867-45C>A (n.5867-45C>A)
c.5849-45C>A (n.5849-45C>A)
c.5843-45C>A (n.5843-45C>A)
c.5840-45C>A (n.5840-45C>A)
c.5816-45C>A (n.5816-45C>A)
 gnomAD v4
12g.2686121C=CA2012350934CACNA1C,CACNA1C-AS1c.5756-45C= (n.5756-45C=)
c.5786-45C= (n.5786-45C=)
c.5861-45C= (n.5861-45C=)
c.5894-45C= (n.5894-45C=)
c.5723-45C= (n.5723-45C=)
c.5771-45C= (n.5771-45C=)
c.6020-45C= (n.6020-45C=)
c.5648-45C= (n.5648-45C=)
c.5681-45C= (n.5681-45C=)
c.5672-45C= (n.5672-45C=)
c.5846-45C= (n.5846-45C=)
n.806-45C=
n.2184-45C=
n.811-45C=
c.5825-45C= (n.5825-45C=)
c.5804-45C= (n.5804-45C=)
c.5705-45C= (n.5705-45C=)
c.5741-45C= (n.5741-45C=)
c.5738-45C= (n.5738-45C=)
c.5732-45C= (n.5732-45C=)
c.5765-45C= (n.5765-45C=)
c.5699-45C= (n.5699-45C=)
c.5309-45C= (n.5309-45C=)
c.5453-45C= (n.5453-45C=)
c.5348-45C= (n.5348-45C=)
c.1754-45C= (n.1754-45C=)
c.5384-45C= (n.5384-45C=)
c.5930-45C= (n.5930-45C=)
n.333+4019G=
c.5300-45C= (n.5300-45C=)
c.4745-45C= (n.4745-45C=)
c.2855-45C= (n.2855-45C=)
c.5999-45C= (n.5999-45C=)
c.6503-45C= (n.6503-45C=)
c.6398-45C= (n.6398-45C=)
c.6185-45C= (n.6185-45C=)
c.6128-45C= (n.6128-45C=)
c.6044-45C= (n.6044-45C=)
c.6029-45C= (n.6029-45C=)
c.5933-45C= (n.5933-45C=)
c.5924-45C= (n.5924-45C=)
c.5906-45C= (n.5906-45C=)
c.5900-45C= (n.5900-45C=)
c.5873-45C= (n.5873-45C=)
c.5867-45C= (n.5867-45C=)
c.5849-45C= (n.5849-45C=)
c.5843-45C= (n.5843-45C=)
c.5840-45C= (n.5840-45C=)
c.5816-45C= (n.5816-45C=)
12g.2686121C>GCA2575046100CACNA1C,CACNA1C-AS1c.5756-45C>G (n.5756-45C>G)
c.5786-45C>G (n.5786-45C>G)
c.5861-45C>G (n.5861-45C>G)
c.5894-45C>G (n.5894-45C>G)
c.5723-45C>G (n.5723-45C>G)
c.5771-45C>G (n.5771-45C>G)
c.6020-45C>G (n.6020-45C>G)
c.5648-45C>G (n.5648-45C>G)
c.5681-45C>G (n.5681-45C>G)
c.5672-45C>G (n.5672-45C>G)
c.5846-45C>G (n.5846-45C>G)
n.806-45C>G
n.2184-45C>G
n.811-45C>G
c.5825-45C>G (n.5825-45C>G)
c.5804-45C>G (n.5804-45C>G)
c.5705-45C>G (n.5705-45C>G)
c.5741-45C>G (n.5741-45C>G)
c.5738-45C>G (n.5738-45C>G)
c.5732-45C>G (n.5732-45C>G)
c.5765-45C>G (n.5765-45C>G)
c.5699-45C>G (n.5699-45C>G)
c.5309-45C>G (n.5309-45C>G)
c.5453-45C>G (n.5453-45C>G)
c.5348-45C>G (n.5348-45C>G)
c.1754-45C>G (n.1754-45C>G)
c.5384-45C>G (n.5384-45C>G)
c.5930-45C>G (n.5930-45C>G)
n.333+4019G>C
c.5300-45C>G (n.5300-45C>G)
c.4745-45C>G (n.4745-45C>G)
c.2855-45C>G (n.2855-45C>G)
c.5999-45C>G (n.5999-45C>G)
c.6503-45C>G (n.6503-45C>G)
c.6398-45C>G (n.6398-45C>G)
c.6185-45C>G (n.6185-45C>G)
c.6128-45C>G (n.6128-45C>G)
c.6044-45C>G (n.6044-45C>G)
c.6029-45C>G (n.6029-45C>G)
c.5933-45C>G (n.5933-45C>G)
c.5924-45C>G (n.5924-45C>G)
c.5906-45C>G (n.5906-45C>G)
c.5900-45C>G (n.5900-45C>G)
c.5873-45C>G (n.5873-45C>G)
c.5867-45C>G (n.5867-45C>G)
c.5849-45C>G (n.5849-45C>G)
c.5843-45C>G (n.5843-45C>G)
c.5840-45C>G (n.5840-45C>G)
c.5816-45C>G (n.5816-45C>G)
 gnomAD v4
12g.2686121C>TCA6389942CACNA1C,CACNA1C-AS1c.5756-45C>T (n.5756-45C>T)
c.5786-45C>T (n.5786-45C>T)
c.5861-45C>T (n.5861-45C>T)
c.5894-45C>T (n.5894-45C>T)
c.5723-45C>T (n.5723-45C>T)
c.5771-45C>T (n.5771-45C>T)
c.6020-45C>T (n.6020-45C>T)
c.5648-45C>T (n.5648-45C>T)
c.5681-45C>T (n.5681-45C>T)
c.5672-45C>T (n.5672-45C>T)
c.5846-45C>T (n.5846-45C>T)
n.806-45C>T
n.2184-45C>T
n.811-45C>T
c.5825-45C>T (n.5825-45C>T)
c.5804-45C>T (n.5804-45C>T)
c.5705-45C>T (n.5705-45C>T)
c.5741-45C>T (n.5741-45C>T)
c.5738-45C>T (n.5738-45C>T)
c.5732-45C>T (n.5732-45C>T)
c.5765-45C>T (n.5765-45C>T)
c.5699-45C>T (n.5699-45C>T)
c.5309-45C>T (n.5309-45C>T)
c.5453-45C>T (n.5453-45C>T)
c.5348-45C>T (n.5348-45C>T)
c.1754-45C>T (n.1754-45C>T)
c.5384-45C>T (n.5384-45C>T)
c.5930-45C>T (n.5930-45C>T)
n.333+4019G>A
c.5300-45C>T (n.5300-45C>T)
c.4745-45C>T (n.4745-45C>T)
c.2855-45C>T (n.2855-45C>T)
c.5999-45C>T (n.5999-45C>T)
c.6503-45C>T (n.6503-45C>T)
c.6398-45C>T (n.6398-45C>T)
c.6185-45C>T (n.6185-45C>T)
c.6128-45C>T (n.6128-45C>T)
c.6044-45C>T (n.6044-45C>T)
c.6029-45C>T (n.6029-45C>T)
c.5933-45C>T (n.5933-45C>T)
c.5924-45C>T (n.5924-45C>T)
c.5906-45C>T (n.5906-45C>T)
c.5900-45C>T (n.5900-45C>T)
c.5873-45C>T (n.5873-45C>T)
c.5867-45C>T (n.5867-45C>T)
c.5849-45C>T (n.5849-45C>T)
c.5843-45C>T (n.5843-45C>T)
c.5840-45C>T (n.5840-45C>T)
c.5816-45C>T (n.5816-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686122C=CA2012350935CACNA1C,CACNA1C-AS1c.5756-44C= (n.5756-44C=)
c.5786-44C= (n.5786-44C=)
c.5861-44C= (n.5861-44C=)
c.5894-44C= (n.5894-44C=)
c.5723-44C= (n.5723-44C=)
c.5771-44C= (n.5771-44C=)
c.6020-44C= (n.6020-44C=)
c.5648-44C= (n.5648-44C=)
c.5681-44C= (n.5681-44C=)
c.5672-44C= (n.5672-44C=)
c.5846-44C= (n.5846-44C=)
n.806-44C=
n.2184-44C=
n.811-44C=
c.5825-44C= (n.5825-44C=)
c.5804-44C= (n.5804-44C=)
c.5705-44C= (n.5705-44C=)
c.5741-44C= (n.5741-44C=)
c.5738-44C= (n.5738-44C=)
c.5732-44C= (n.5732-44C=)
c.5765-44C= (n.5765-44C=)
c.5699-44C= (n.5699-44C=)
c.5309-44C= (n.5309-44C=)
c.5453-44C= (n.5453-44C=)
c.5348-44C= (n.5348-44C=)
c.1754-44C= (n.1754-44C=)
c.5384-44C= (n.5384-44C=)
c.5930-44C= (n.5930-44C=)
n.333+4018G=
c.5300-44C= (n.5300-44C=)
c.4745-44C= (n.4745-44C=)
c.2855-44C= (n.2855-44C=)
c.5999-44C= (n.5999-44C=)
c.6503-44C= (n.6503-44C=)
c.6398-44C= (n.6398-44C=)
c.6185-44C= (n.6185-44C=)
c.6128-44C= (n.6128-44C=)
c.6044-44C= (n.6044-44C=)
c.6029-44C= (n.6029-44C=)
c.5933-44C= (n.5933-44C=)
c.5924-44C= (n.5924-44C=)
c.5906-44C= (n.5906-44C=)
c.5900-44C= (n.5900-44C=)
c.5873-44C= (n.5873-44C=)
c.5867-44C= (n.5867-44C=)
c.5849-44C= (n.5849-44C=)
c.5843-44C= (n.5843-44C=)
c.5840-44C= (n.5840-44C=)
c.5816-44C= (n.5816-44C=)
12g.2686122C>TCA6389943CACNA1C,CACNA1C-AS1c.5756-44C>T (n.5756-44C>T)
c.5786-44C>T (n.5786-44C>T)
c.5861-44C>T (n.5861-44C>T)
c.5894-44C>T (n.5894-44C>T)
c.5723-44C>T (n.5723-44C>T)
c.5771-44C>T (n.5771-44C>T)
c.6020-44C>T (n.6020-44C>T)
c.5648-44C>T (n.5648-44C>T)
c.5681-44C>T (n.5681-44C>T)
c.5672-44C>T (n.5672-44C>T)
c.5846-44C>T (n.5846-44C>T)
n.806-44C>T
n.2184-44C>T
n.811-44C>T
c.5825-44C>T (n.5825-44C>T)
c.5804-44C>T (n.5804-44C>T)
c.5705-44C>T (n.5705-44C>T)
c.5741-44C>T (n.5741-44C>T)
c.5738-44C>T (n.5738-44C>T)
c.5732-44C>T (n.5732-44C>T)
c.5765-44C>T (n.5765-44C>T)
c.5699-44C>T (n.5699-44C>T)
c.5309-44C>T (n.5309-44C>T)
c.5453-44C>T (n.5453-44C>T)
c.5348-44C>T (n.5348-44C>T)
c.1754-44C>T (n.1754-44C>T)
c.5384-44C>T (n.5384-44C>T)
c.5930-44C>T (n.5930-44C>T)
n.333+4018G>A
c.5300-44C>T (n.5300-44C>T)
c.4745-44C>T (n.4745-44C>T)
c.2855-44C>T (n.2855-44C>T)
c.5999-44C>T (n.5999-44C>T)
c.6503-44C>T (n.6503-44C>T)
c.6398-44C>T (n.6398-44C>T)
c.6185-44C>T (n.6185-44C>T)
c.6128-44C>T (n.6128-44C>T)
c.6044-44C>T (n.6044-44C>T)
c.6029-44C>T (n.6029-44C>T)
c.5933-44C>T (n.5933-44C>T)
c.5924-44C>T (n.5924-44C>T)
c.5906-44C>T (n.5906-44C>T)
c.5900-44C>T (n.5900-44C>T)
c.5873-44C>T (n.5873-44C>T)
c.5867-44C>T (n.5867-44C>T)
c.5849-44C>T (n.5849-44C>T)
c.5843-44C>T (n.5843-44C>T)
c.5840-44C>T (n.5840-44C>T)
c.5816-44C>T (n.5816-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686123_2686124delCA2575046101CACNA1C,CACNA1C-AS1c.5756-43_5756-42del (n.5756-43_5756-42del)
c.5786-43_5786-42del (n.5786-43_5786-42del)
c.5861-43_5861-42del (n.5861-43_5861-42del)
c.5894-43_5894-42del (n.5894-43_5894-42del)
c.5723-43_5723-42del (n.5723-43_5723-42del)
c.5771-43_5771-42del (n.5771-43_5771-42del)
c.6020-43_6020-42del (n.6020-43_6020-42del)
c.5648-43_5648-42del (n.5648-43_5648-42del)
c.5681-43_5681-42del (n.5681-43_5681-42del)
c.5672-43_5672-42del (n.5672-43_5672-42del)
c.5846-43_5846-42del (n.5846-43_5846-42del)
n.806-43_806-42del
n.2184-43_2184-42del
n.811-43_811-42del
c.5825-43_5825-42del (n.5825-43_5825-42del)
c.5804-43_5804-42del (n.5804-43_5804-42del)
c.5705-43_5705-42del (n.5705-43_5705-42del)
c.5741-43_5741-42del (n.5741-43_5741-42del)
c.5738-43_5738-42del (n.5738-43_5738-42del)
c.5732-43_5732-42del (n.5732-43_5732-42del)
c.5765-43_5765-42del (n.5765-43_5765-42del)
c.5699-43_5699-42del (n.5699-43_5699-42del)
c.5309-43_5309-42del (n.5309-43_5309-42del)
c.5453-43_5453-42del (n.5453-43_5453-42del)
c.5348-43_5348-42del (n.5348-43_5348-42del)
c.1754-43_1754-42del (n.1754-43_1754-42del)
c.5384-43_5384-42del (n.5384-43_5384-42del)
c.5930-43_5930-42del (n.5930-43_5930-42del)
n.333+4016_333+4017del
c.5300-43_5300-42del (n.5300-43_5300-42del)
c.4745-43_4745-42del (n.4745-43_4745-42del)
c.2855-43_2855-42del (n.2855-43_2855-42del)
c.5999-43_5999-42del (n.5999-43_5999-42del)
c.6503-43_6503-42del (n.6503-43_6503-42del)
c.6398-43_6398-42del (n.6398-43_6398-42del)
c.6185-43_6185-42del (n.6185-43_6185-42del)
c.6128-43_6128-42del (n.6128-43_6128-42del)
c.6044-43_6044-42del (n.6044-43_6044-42del)
c.6029-43_6029-42del (n.6029-43_6029-42del)
c.5933-43_5933-42del (n.5933-43_5933-42del)
c.5924-43_5924-42del (n.5924-43_5924-42del)
c.5906-43_5906-42del (n.5906-43_5906-42del)
c.5900-43_5900-42del (n.5900-43_5900-42del)
c.5873-43_5873-42del (n.5873-43_5873-42del)
c.5867-43_5867-42del (n.5867-43_5867-42del)
c.5849-43_5849-42del (n.5849-43_5849-42del)
c.5843-43_5843-42del (n.5843-43_5843-42del)
c.5840-43_5840-42del (n.5840-43_5840-42del)
c.5816-43_5816-42del (n.5816-43_5816-42del)
 gnomAD v4
12g.2686124T>ACA686844466CACNA1C,CACNA1C-AS1c.5756-42T>A (n.5756-42T>A)
c.5786-42T>A (n.5786-42T>A)
c.5861-42T>A (n.5861-42T>A)
c.5894-42T>A (n.5894-42T>A)
c.5723-42T>A (n.5723-42T>A)
c.5771-42T>A (n.5771-42T>A)
c.6020-42T>A (n.6020-42T>A)
c.5648-42T>A (n.5648-42T>A)
c.5681-42T>A (n.5681-42T>A)
c.5672-42T>A (n.5672-42T>A)
c.5846-42T>A (n.5846-42T>A)
n.806-42T>A
n.2184-42T>A
n.811-42T>A
c.5825-42T>A (n.5825-42T>A)
c.5804-42T>A (n.5804-42T>A)
c.5705-42T>A (n.5705-42T>A)
c.5741-42T>A (n.5741-42T>A)
c.5738-42T>A (n.5738-42T>A)
c.5732-42T>A (n.5732-42T>A)
c.5765-42T>A (n.5765-42T>A)
c.5699-42T>A (n.5699-42T>A)
c.5309-42T>A (n.5309-42T>A)
c.5453-42T>A (n.5453-42T>A)
c.5348-42T>A (n.5348-42T>A)
c.1754-42T>A (n.1754-42T>A)
c.5384-42T>A (n.5384-42T>A)
c.5930-42T>A (n.5930-42T>A)
n.333+4016A>T
c.5300-42T>A (n.5300-42T>A)
c.4745-42T>A (n.4745-42T>A)
c.2855-42T>A (n.2855-42T>A)
c.5999-42T>A (n.5999-42T>A)
c.6503-42T>A (n.6503-42T>A)
c.6398-42T>A (n.6398-42T>A)
c.6185-42T>A (n.6185-42T>A)
c.6128-42T>A (n.6128-42T>A)
c.6044-42T>A (n.6044-42T>A)
c.6029-42T>A (n.6029-42T>A)
c.5933-42T>A (n.5933-42T>A)
c.5924-42T>A (n.5924-42T>A)
c.5906-42T>A (n.5906-42T>A)
c.5900-42T>A (n.5900-42T>A)
c.5873-42T>A (n.5873-42T>A)
c.5867-42T>A (n.5867-42T>A)
c.5849-42T>A (n.5849-42T>A)
c.5843-42T>A (n.5843-42T>A)
c.5840-42T>A (n.5840-42T>A)
c.5816-42T>A (n.5816-42T>A)
 dbSNP
12g.2686124T>CCA2617072063CACNA1C,CACNA1C-AS1c.5756-42T>C (n.5756-42T>C)
c.5786-42T>C (n.5786-42T>C)
c.5861-42T>C (n.5861-42T>C)
c.5894-42T>C (n.5894-42T>C)
c.5723-42T>C (n.5723-42T>C)
c.5771-42T>C (n.5771-42T>C)
c.6020-42T>C (n.6020-42T>C)
c.5648-42T>C (n.5648-42T>C)
c.5681-42T>C (n.5681-42T>C)
c.5672-42T>C (n.5672-42T>C)
c.5846-42T>C (n.5846-42T>C)
n.806-42T>C
n.2184-42T>C
n.811-42T>C
c.5825-42T>C (n.5825-42T>C)
c.5804-42T>C (n.5804-42T>C)
c.5705-42T>C (n.5705-42T>C)
c.5741-42T>C (n.5741-42T>C)
c.5738-42T>C (n.5738-42T>C)
c.5732-42T>C (n.5732-42T>C)
c.5765-42T>C (n.5765-42T>C)
c.5699-42T>C (n.5699-42T>C)
c.5309-42T>C (n.5309-42T>C)
c.5453-42T>C (n.5453-42T>C)
c.5348-42T>C (n.5348-42T>C)
c.1754-42T>C (n.1754-42T>C)
c.5384-42T>C (n.5384-42T>C)
c.5930-42T>C (n.5930-42T>C)
n.333+4016A>G
c.5300-42T>C (n.5300-42T>C)
c.4745-42T>C (n.4745-42T>C)
c.2855-42T>C (n.2855-42T>C)
c.5999-42T>C (n.5999-42T>C)
c.6503-42T>C (n.6503-42T>C)
c.6398-42T>C (n.6398-42T>C)
c.6185-42T>C (n.6185-42T>C)
c.6128-42T>C (n.6128-42T>C)
c.6044-42T>C (n.6044-42T>C)
c.6029-42T>C (n.6029-42T>C)
c.5933-42T>C (n.5933-42T>C)
c.5924-42T>C (n.5924-42T>C)
c.5906-42T>C (n.5906-42T>C)
c.5900-42T>C (n.5900-42T>C)
c.5873-42T>C (n.5873-42T>C)
c.5867-42T>C (n.5867-42T>C)
c.5849-42T>C (n.5849-42T>C)
c.5843-42T>C (n.5843-42T>C)
c.5840-42T>C (n.5840-42T>C)
c.5816-42T>C (n.5816-42T>C)
 gnomAD v4
12g.2686124T=CA2012350936CACNA1C,CACNA1C-AS1c.5756-42T= (n.5756-42T=)
c.5786-42T= (n.5786-42T=)
c.5861-42T= (n.5861-42T=)
c.5894-42T= (n.5894-42T=)
c.5723-42T= (n.5723-42T=)
c.5771-42T= (n.5771-42T=)
c.6020-42T= (n.6020-42T=)
c.5648-42T= (n.5648-42T=)
c.5681-42T= (n.5681-42T=)
c.5672-42T= (n.5672-42T=)
c.5846-42T= (n.5846-42T=)
n.806-42T=
n.2184-42T=
n.811-42T=
c.5825-42T= (n.5825-42T=)
c.5804-42T= (n.5804-42T=)
c.5705-42T= (n.5705-42T=)
c.5741-42T= (n.5741-42T=)
c.5738-42T= (n.5738-42T=)
c.5732-42T= (n.5732-42T=)
c.5765-42T= (n.5765-42T=)
c.5699-42T= (n.5699-42T=)
c.5309-42T= (n.5309-42T=)
c.5453-42T= (n.5453-42T=)
c.5348-42T= (n.5348-42T=)
c.1754-42T= (n.1754-42T=)
c.5384-42T= (n.5384-42T=)
c.5930-42T= (n.5930-42T=)
n.333+4016A=
c.5300-42T= (n.5300-42T=)
c.4745-42T= (n.4745-42T=)
c.2855-42T= (n.2855-42T=)
c.5999-42T= (n.5999-42T=)
c.6503-42T= (n.6503-42T=)
c.6398-42T= (n.6398-42T=)
c.6185-42T= (n.6185-42T=)
c.6128-42T= (n.6128-42T=)
c.6044-42T= (n.6044-42T=)
c.6029-42T= (n.6029-42T=)
c.5933-42T= (n.5933-42T=)
c.5924-42T= (n.5924-42T=)
c.5906-42T= (n.5906-42T=)
c.5900-42T= (n.5900-42T=)
c.5873-42T= (n.5873-42T=)
c.5867-42T= (n.5867-42T=)
c.5849-42T= (n.5849-42T=)
c.5843-42T= (n.5843-42T=)
c.5840-42T= (n.5840-42T=)
c.5816-42T= (n.5816-42T=)
12g.2686125G>ACA2617072070CACNA1C,CACNA1C-AS1c.5756-41G>A (n.5756-41G>A)
c.5786-41G>A (n.5786-41G>A)
c.5861-41G>A (n.5861-41G>A)
c.5894-41G>A (n.5894-41G>A)
c.5723-41G>A (n.5723-41G>A)
c.5771-41G>A (n.5771-41G>A)
c.6020-41G>A (n.6020-41G>A)
c.5648-41G>A (n.5648-41G>A)
c.5681-41G>A (n.5681-41G>A)
c.5672-41G>A (n.5672-41G>A)
c.5846-41G>A (n.5846-41G>A)
n.806-41G>A
n.2184-41G>A
n.811-41G>A
c.5825-41G>A (n.5825-41G>A)
c.5804-41G>A (n.5804-41G>A)
c.5705-41G>A (n.5705-41G>A)
c.5741-41G>A (n.5741-41G>A)
c.5738-41G>A (n.5738-41G>A)
c.5732-41G>A (n.5732-41G>A)
c.5765-41G>A (n.5765-41G>A)
c.5699-41G>A (n.5699-41G>A)
c.5309-41G>A (n.5309-41G>A)
c.5453-41G>A (n.5453-41G>A)
c.5348-41G>A (n.5348-41G>A)
c.1754-41G>A (n.1754-41G>A)
c.5384-41G>A (n.5384-41G>A)
c.5930-41G>A (n.5930-41G>A)
n.333+4015C>T
c.5300-41G>A (n.5300-41G>A)
c.4745-41G>A (n.4745-41G>A)
c.2855-41G>A (n.2855-41G>A)
c.5999-41G>A (n.5999-41G>A)
c.6503-41G>A (n.6503-41G>A)
c.6398-41G>A (n.6398-41G>A)
c.6185-41G>A (n.6185-41G>A)
c.6128-41G>A (n.6128-41G>A)
c.6044-41G>A (n.6044-41G>A)
c.6029-41G>A (n.6029-41G>A)
c.5933-41G>A (n.5933-41G>A)
c.5924-41G>A (n.5924-41G>A)
c.5906-41G>A (n.5906-41G>A)
c.5900-41G>A (n.5900-41G>A)
c.5873-41G>A (n.5873-41G>A)
c.5867-41G>A (n.5867-41G>A)
c.5849-41G>A (n.5849-41G>A)
c.5843-41G>A (n.5843-41G>A)
c.5840-41G>A (n.5840-41G>A)
c.5816-41G>A (n.5816-41G>A)
 gnomAD v4
12g.2686126T>ACA2012350938CACNA1C,CACNA1C-AS1c.5756-40T>A (n.5756-40T>A)
c.5786-40T>A (n.5786-40T>A)
c.5861-40T>A (n.5861-40T>A)
c.5894-40T>A (n.5894-40T>A)
c.5723-40T>A (n.5723-40T>A)
c.5771-40T>A (n.5771-40T>A)
c.6020-40T>A (n.6020-40T>A)
c.5648-40T>A (n.5648-40T>A)
c.5681-40T>A (n.5681-40T>A)
c.5672-40T>A (n.5672-40T>A)
c.5846-40T>A (n.5846-40T>A)
n.806-40T>A
n.2184-40T>A
n.811-40T>A
c.5825-40T>A (n.5825-40T>A)
c.5804-40T>A (n.5804-40T>A)
c.5705-40T>A (n.5705-40T>A)
c.5741-40T>A (n.5741-40T>A)
c.5738-40T>A (n.5738-40T>A)
c.5732-40T>A (n.5732-40T>A)
c.5765-40T>A (n.5765-40T>A)
c.5699-40T>A (n.5699-40T>A)
c.5309-40T>A (n.5309-40T>A)
c.5453-40T>A (n.5453-40T>A)
c.5348-40T>A (n.5348-40T>A)
c.1754-40T>A (n.1754-40T>A)
c.5384-40T>A (n.5384-40T>A)
c.5930-40T>A (n.5930-40T>A)
n.333+4014A>T
c.5300-40T>A (n.5300-40T>A)
c.4745-40T>A (n.4745-40T>A)
c.2855-40T>A (n.2855-40T>A)
c.5999-40T>A (n.5999-40T>A)
c.6503-40T>A (n.6503-40T>A)
c.6398-40T>A (n.6398-40T>A)
c.6185-40T>A (n.6185-40T>A)
c.6128-40T>A (n.6128-40T>A)
c.6044-40T>A (n.6044-40T>A)
c.6029-40T>A (n.6029-40T>A)
c.5933-40T>A (n.5933-40T>A)
c.5924-40T>A (n.5924-40T>A)
c.5906-40T>A (n.5906-40T>A)
c.5900-40T>A (n.5900-40T>A)
c.5873-40T>A (n.5873-40T>A)
c.5867-40T>A (n.5867-40T>A)
c.5849-40T>A (n.5849-40T>A)
c.5843-40T>A (n.5843-40T>A)
c.5840-40T>A (n.5840-40T>A)
c.5816-40T>A (n.5816-40T>A)
 dbSNP gnomAD v4
12g.2686126T>CCA944092033CACNA1C,CACNA1C-AS1c.5756-40T>C (n.5756-40T>C)
c.5786-40T>C (n.5786-40T>C)
c.5861-40T>C (n.5861-40T>C)
c.5894-40T>C (n.5894-40T>C)
c.5723-40T>C (n.5723-40T>C)
c.5771-40T>C (n.5771-40T>C)
c.6020-40T>C (n.6020-40T>C)
c.5648-40T>C (n.5648-40T>C)
c.5681-40T>C (n.5681-40T>C)
c.5672-40T>C (n.5672-40T>C)
c.5846-40T>C (n.5846-40T>C)
n.806-40T>C
n.2184-40T>C
n.811-40T>C
c.5825-40T>C (n.5825-40T>C)
c.5804-40T>C (n.5804-40T>C)
c.5705-40T>C (n.5705-40T>C)
c.5741-40T>C (n.5741-40T>C)
c.5738-40T>C (n.5738-40T>C)
c.5732-40T>C (n.5732-40T>C)
c.5765-40T>C (n.5765-40T>C)
c.5699-40T>C (n.5699-40T>C)
c.5309-40T>C (n.5309-40T>C)
c.5453-40T>C (n.5453-40T>C)
c.5348-40T>C (n.5348-40T>C)
c.1754-40T>C (n.1754-40T>C)
c.5384-40T>C (n.5384-40T>C)
c.5930-40T>C (n.5930-40T>C)
n.333+4014A>G
c.5300-40T>C (n.5300-40T>C)
c.4745-40T>C (n.4745-40T>C)
c.2855-40T>C (n.2855-40T>C)
c.5999-40T>C (n.5999-40T>C)
c.6503-40T>C (n.6503-40T>C)
c.6398-40T>C (n.6398-40T>C)
c.6185-40T>C (n.6185-40T>C)
c.6128-40T>C (n.6128-40T>C)
c.6044-40T>C (n.6044-40T>C)
c.6029-40T>C (n.6029-40T>C)
c.5933-40T>C (n.5933-40T>C)
c.5924-40T>C (n.5924-40T>C)
c.5906-40T>C (n.5906-40T>C)
c.5900-40T>C (n.5900-40T>C)
c.5873-40T>C (n.5873-40T>C)
c.5867-40T>C (n.5867-40T>C)
c.5849-40T>C (n.5849-40T>C)
c.5843-40T>C (n.5843-40T>C)
c.5840-40T>C (n.5840-40T>C)
c.5816-40T>C (n.5816-40T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.2686126T>GCA2575046102CACNA1C,CACNA1C-AS1c.5756-40T>G (n.5756-40T>G)
c.5786-40T>G (n.5786-40T>G)
c.5861-40T>G (n.5861-40T>G)
c.5894-40T>G (n.5894-40T>G)
c.5723-40T>G (n.5723-40T>G)
c.5771-40T>G (n.5771-40T>G)
c.6020-40T>G (n.6020-40T>G)
c.5648-40T>G (n.5648-40T>G)
c.5681-40T>G (n.5681-40T>G)
c.5672-40T>G (n.5672-40T>G)
c.5846-40T>G (n.5846-40T>G)
n.806-40T>G
n.2184-40T>G
n.811-40T>G
c.5825-40T>G (n.5825-40T>G)
c.5804-40T>G (n.5804-40T>G)
c.5705-40T>G (n.5705-40T>G)
c.5741-40T>G (n.5741-40T>G)
c.5738-40T>G (n.5738-40T>G)
c.5732-40T>G (n.5732-40T>G)
c.5765-40T>G (n.5765-40T>G)
c.5699-40T>G (n.5699-40T>G)
c.5309-40T>G (n.5309-40T>G)
c.5453-40T>G (n.5453-40T>G)
c.5348-40T>G (n.5348-40T>G)
c.1754-40T>G (n.1754-40T>G)
c.5384-40T>G (n.5384-40T>G)
c.5930-40T>G (n.5930-40T>G)
n.333+4014A>C
c.5300-40T>G (n.5300-40T>G)
c.4745-40T>G (n.4745-40T>G)
c.2855-40T>G (n.2855-40T>G)
c.5999-40T>G (n.5999-40T>G)
c.6503-40T>G (n.6503-40T>G)
c.6398-40T>G (n.6398-40T>G)
c.6185-40T>G (n.6185-40T>G)
c.6128-40T>G (n.6128-40T>G)
c.6044-40T>G (n.6044-40T>G)
c.6029-40T>G (n.6029-40T>G)
c.5933-40T>G (n.5933-40T>G)
c.5924-40T>G (n.5924-40T>G)
c.5906-40T>G (n.5906-40T>G)
c.5900-40T>G (n.5900-40T>G)
c.5873-40T>G (n.5873-40T>G)
c.5867-40T>G (n.5867-40T>G)
c.5849-40T>G (n.5849-40T>G)
c.5843-40T>G (n.5843-40T>G)
c.5840-40T>G (n.5840-40T>G)
c.5816-40T>G (n.5816-40T>G)
12g.2686126T=CA2012350937CACNA1C,CACNA1C-AS1c.5756-40T= (n.5756-40T=)
c.5786-40T= (n.5786-40T=)
c.5861-40T= (n.5861-40T=)
c.5894-40T= (n.5894-40T=)
c.5723-40T= (n.5723-40T=)
c.5771-40T= (n.5771-40T=)
c.6020-40T= (n.6020-40T=)
c.5648-40T= (n.5648-40T=)
c.5681-40T= (n.5681-40T=)
c.5672-40T= (n.5672-40T=)
c.5846-40T= (n.5846-40T=)
n.806-40T=
n.2184-40T=
n.811-40T=
c.5825-40T= (n.5825-40T=)
c.5804-40T= (n.5804-40T=)
c.5705-40T= (n.5705-40T=)
c.5741-40T= (n.5741-40T=)
c.5738-40T= (n.5738-40T=)
c.5732-40T= (n.5732-40T=)
c.5765-40T= (n.5765-40T=)
c.5699-40T= (n.5699-40T=)
c.5309-40T= (n.5309-40T=)
c.5453-40T= (n.5453-40T=)
c.5348-40T= (n.5348-40T=)
c.1754-40T= (n.1754-40T=)
c.5384-40T= (n.5384-40T=)
c.5930-40T= (n.5930-40T=)
n.333+4014A=
c.5300-40T= (n.5300-40T=)
c.4745-40T= (n.4745-40T=)
c.2855-40T= (n.2855-40T=)
c.5999-40T= (n.5999-40T=)
c.6503-40T= (n.6503-40T=)
c.6398-40T= (n.6398-40T=)
c.6185-40T= (n.6185-40T=)
c.6128-40T= (n.6128-40T=)
c.6044-40T= (n.6044-40T=)
c.6029-40T= (n.6029-40T=)
c.5933-40T= (n.5933-40T=)
c.5924-40T= (n.5924-40T=)
c.5906-40T= (n.5906-40T=)
c.5900-40T= (n.5900-40T=)
c.5873-40T= (n.5873-40T=)
c.5867-40T= (n.5867-40T=)
c.5849-40T= (n.5849-40T=)
c.5843-40T= (n.5843-40T=)
c.5840-40T= (n.5840-40T=)
c.5816-40T= (n.5816-40T=)
12g.2686129delCA2617072089CACNA1C,CACNA1C-AS1c.5756-37del (n.5756-37del)
c.5786-37del (n.5786-37del)
c.5861-37del (n.5861-37del)
c.5894-37del (n.5894-37del)
c.5723-37del (n.5723-37del)
c.5771-37del (n.5771-37del)
c.6020-37del (n.6020-37del)
c.5648-37del (n.5648-37del)
c.5681-37del (n.5681-37del)
c.5672-37del (n.5672-37del)
c.5846-37del (n.5846-37del)
n.806-37del
n.2184-37del
n.811-37del
c.5825-37del (n.5825-37del)
c.5804-37del (n.5804-37del)
c.5705-37del (n.5705-37del)
c.5741-37del (n.5741-37del)
c.5738-37del (n.5738-37del)
c.5732-37del (n.5732-37del)
c.5765-37del (n.5765-37del)
c.5699-37del (n.5699-37del)
c.5309-37del (n.5309-37del)
c.5453-37del (n.5453-37del)
c.5348-37del (n.5348-37del)
c.1754-37del (n.1754-37del)
c.5384-37del (n.5384-37del)
c.5930-37del (n.5930-37del)
n.333+4014del
c.5300-37del (n.5300-37del)
c.4745-37del (n.4745-37del)
c.2855-37del (n.2855-37del)
c.5999-37del (n.5999-37del)
c.6503-37del (n.6503-37del)
c.6398-37del (n.6398-37del)
c.6185-37del (n.6185-37del)
c.6128-37del (n.6128-37del)
c.6044-37del (n.6044-37del)
c.6029-37del (n.6029-37del)
c.5933-37del (n.5933-37del)
c.5924-37del (n.5924-37del)
c.5906-37del (n.5906-37del)
c.5900-37del (n.5900-37del)
c.5873-37del (n.5873-37del)
c.5867-37del (n.5867-37del)
c.5849-37del (n.5849-37del)
c.5843-37del (n.5843-37del)
c.5840-37del (n.5840-37del)
c.5816-37del (n.5816-37del)
 gnomAD v4
12g.2686127T>ACA2617072100CACNA1C,CACNA1C-AS1c.5756-39T>A (n.5756-39T>A)
c.5786-39T>A (n.5786-39T>A)
c.5861-39T>A (n.5861-39T>A)
c.5894-39T>A (n.5894-39T>A)
c.5723-39T>A (n.5723-39T>A)
c.5771-39T>A (n.5771-39T>A)
c.6020-39T>A (n.6020-39T>A)
c.5648-39T>A (n.5648-39T>A)
c.5681-39T>A (n.5681-39T>A)
c.5672-39T>A (n.5672-39T>A)
c.5846-39T>A (n.5846-39T>A)
n.806-39T>A
n.2184-39T>A
n.811-39T>A
c.5825-39T>A (n.5825-39T>A)
c.5804-39T>A (n.5804-39T>A)
c.5705-39T>A (n.5705-39T>A)
c.5741-39T>A (n.5741-39T>A)
c.5738-39T>A (n.5738-39T>A)
c.5732-39T>A (n.5732-39T>A)
c.5765-39T>A (n.5765-39T>A)
c.5699-39T>A (n.5699-39T>A)
c.5309-39T>A (n.5309-39T>A)
c.5453-39T>A (n.5453-39T>A)
c.5348-39T>A (n.5348-39T>A)
c.1754-39T>A (n.1754-39T>A)
c.5384-39T>A (n.5384-39T>A)
c.5930-39T>A (n.5930-39T>A)
n.333+4013A>T
c.5300-39T>A (n.5300-39T>A)
c.4745-39T>A (n.4745-39T>A)
c.2855-39T>A (n.2855-39T>A)
c.5999-39T>A (n.5999-39T>A)
c.6503-39T>A (n.6503-39T>A)
c.6398-39T>A (n.6398-39T>A)
c.6185-39T>A (n.6185-39T>A)
c.6128-39T>A (n.6128-39T>A)
c.6044-39T>A (n.6044-39T>A)
c.6029-39T>A (n.6029-39T>A)
c.5933-39T>A (n.5933-39T>A)
c.5924-39T>A (n.5924-39T>A)
c.5906-39T>A (n.5906-39T>A)
c.5900-39T>A (n.5900-39T>A)
c.5873-39T>A (n.5873-39T>A)
c.5867-39T>A (n.5867-39T>A)
c.5849-39T>A (n.5849-39T>A)
c.5843-39T>A (n.5843-39T>A)
c.5840-39T>A (n.5840-39T>A)
c.5816-39T>A (n.5816-39T>A)
 gnomAD v4
12g.2686129T>CCA2575046103CACNA1C,CACNA1C-AS1c.5756-37T>C (n.5756-37T>C)
c.5786-37T>C (n.5786-37T>C)
c.5861-37T>C (n.5861-37T>C)
c.5894-37T>C (n.5894-37T>C)
c.5723-37T>C (n.5723-37T>C)
c.5771-37T>C (n.5771-37T>C)
c.6020-37T>C (n.6020-37T>C)
c.5648-37T>C (n.5648-37T>C)
c.5681-37T>C (n.5681-37T>C)
c.5672-37T>C (n.5672-37T>C)
c.5846-37T>C (n.5846-37T>C)
n.806-37T>C
n.2184-37T>C
n.811-37T>C
c.5825-37T>C (n.5825-37T>C)
c.5804-37T>C (n.5804-37T>C)
c.5705-37T>C (n.5705-37T>C)
c.5741-37T>C (n.5741-37T>C)
c.5738-37T>C (n.5738-37T>C)
c.5732-37T>C (n.5732-37T>C)
c.5765-37T>C (n.5765-37T>C)
c.5699-37T>C (n.5699-37T>C)
c.5309-37T>C (n.5309-37T>C)
c.5453-37T>C (n.5453-37T>C)
c.5348-37T>C (n.5348-37T>C)
c.1754-37T>C (n.1754-37T>C)
c.5384-37T>C (n.5384-37T>C)
c.5930-37T>C (n.5930-37T>C)
n.333+4011A>G
c.5300-37T>C (n.5300-37T>C)
c.4745-37T>C (n.4745-37T>C)
c.2855-37T>C (n.2855-37T>C)
c.5999-37T>C (n.5999-37T>C)
c.6503-37T>C (n.6503-37T>C)
c.6398-37T>C (n.6398-37T>C)
c.6185-37T>C (n.6185-37T>C)
c.6128-37T>C (n.6128-37T>C)
c.6044-37T>C (n.6044-37T>C)
c.6029-37T>C (n.6029-37T>C)
c.5933-37T>C (n.5933-37T>C)
c.5924-37T>C (n.5924-37T>C)
c.5906-37T>C (n.5906-37T>C)
c.5900-37T>C (n.5900-37T>C)
c.5873-37T>C (n.5873-37T>C)
c.5867-37T>C (n.5867-37T>C)
c.5849-37T>C (n.5849-37T>C)
c.5843-37T>C (n.5843-37T>C)
c.5840-37T>C (n.5840-37T>C)
c.5816-37T>C (n.5816-37T>C)
12g.2686130C>TCA2617072101CACNA1C,CACNA1C-AS1c.5756-36C>T (n.5756-36C>T)
c.5786-36C>T (n.5786-36C>T)
c.5861-36C>T (n.5861-36C>T)
c.5894-36C>T (n.5894-36C>T)
c.5723-36C>T (n.5723-36C>T)
c.5771-36C>T (n.5771-36C>T)
c.6020-36C>T (n.6020-36C>T)
c.5648-36C>T (n.5648-36C>T)
c.5681-36C>T (n.5681-36C>T)
c.5672-36C>T (n.5672-36C>T)
c.5846-36C>T (n.5846-36C>T)
n.806-36C>T
n.2184-36C>T
n.811-36C>T
c.5825-36C>T (n.5825-36C>T)
c.5804-36C>T (n.5804-36C>T)
c.5705-36C>T (n.5705-36C>T)
c.5741-36C>T (n.5741-36C>T)
c.5738-36C>T (n.5738-36C>T)
c.5732-36C>T (n.5732-36C>T)
c.5765-36C>T (n.5765-36C>T)
c.5699-36C>T (n.5699-36C>T)
c.5309-36C>T (n.5309-36C>T)
c.5453-36C>T (n.5453-36C>T)
c.5348-36C>T (n.5348-36C>T)
c.1754-36C>T (n.1754-36C>T)
c.5384-36C>T (n.5384-36C>T)
c.5930-36C>T (n.5930-36C>T)
n.333+4010G>A
c.5300-36C>T (n.5300-36C>T)
c.4745-36C>T (n.4745-36C>T)
c.2855-36C>T (n.2855-36C>T)
c.5999-36C>T (n.5999-36C>T)
c.6503-36C>T (n.6503-36C>T)
c.6398-36C>T (n.6398-36C>T)
c.6185-36C>T (n.6185-36C>T)
c.6128-36C>T (n.6128-36C>T)
c.6044-36C>T (n.6044-36C>T)
c.6029-36C>T (n.6029-36C>T)
c.5933-36C>T (n.5933-36C>T)
c.5924-36C>T (n.5924-36C>T)
c.5906-36C>T (n.5906-36C>T)
c.5900-36C>T (n.5900-36C>T)
c.5873-36C>T (n.5873-36C>T)
c.5867-36C>T (n.5867-36C>T)
c.5849-36C>T (n.5849-36C>T)
c.5843-36C>T (n.5843-36C>T)
c.5840-36C>T (n.5840-36C>T)
c.5816-36C>T (n.5816-36C>T)
 gnomAD v4
12g.2686132T>CCA6389944CACNA1C,CACNA1C-AS1c.5756-34T>C (n.5756-34T>C)
c.5786-34T>C (n.5786-34T>C)
c.5861-34T>C (n.5861-34T>C)
c.5894-34T>C (n.5894-34T>C)
c.5723-34T>C (n.5723-34T>C)
c.5771-34T>C (n.5771-34T>C)
c.6020-34T>C (n.6020-34T>C)
c.5648-34T>C (n.5648-34T>C)
c.5681-34T>C (n.5681-34T>C)
c.5672-34T>C (n.5672-34T>C)
c.5846-34T>C (n.5846-34T>C)
n.806-34T>C
n.2184-34T>C
n.811-34T>C
c.5825-34T>C (n.5825-34T>C)
c.5804-34T>C (n.5804-34T>C)
c.5705-34T>C (n.5705-34T>C)
c.5741-34T>C (n.5741-34T>C)
c.5738-34T>C (n.5738-34T>C)
c.5732-34T>C (n.5732-34T>C)
c.5765-34T>C (n.5765-34T>C)
c.5699-34T>C (n.5699-34T>C)
c.5309-34T>C (n.5309-34T>C)
c.5453-34T>C (n.5453-34T>C)
c.5348-34T>C (n.5348-34T>C)
c.1754-34T>C (n.1754-34T>C)
c.5384-34T>C (n.5384-34T>C)
c.5930-34T>C (n.5930-34T>C)
n.333+4008A>G
c.5300-34T>C (n.5300-34T>C)
c.4745-34T>C (n.4745-34T>C)
c.2855-34T>C (n.2855-34T>C)
c.5999-34T>C (n.5999-34T>C)
c.6503-34T>C (n.6503-34T>C)
c.6398-34T>C (n.6398-34T>C)
c.6185-34T>C (n.6185-34T>C)
c.6128-34T>C (n.6128-34T>C)
c.6044-34T>C (n.6044-34T>C)
c.6029-34T>C (n.6029-34T>C)
c.5933-34T>C (n.5933-34T>C)
c.5924-34T>C (n.5924-34T>C)
c.5906-34T>C (n.5906-34T>C)
c.5900-34T>C (n.5900-34T>C)
c.5873-34T>C (n.5873-34T>C)
c.5867-34T>C (n.5867-34T>C)
c.5849-34T>C (n.5849-34T>C)
c.5843-34T>C (n.5843-34T>C)
c.5840-34T>C (n.5840-34T>C)
c.5816-34T>C (n.5816-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686132T>GCA602741127CACNA1C,CACNA1C-AS1c.5756-34T>G (n.5756-34T>G)
c.5786-34T>G (n.5786-34T>G)
c.5861-34T>G (n.5861-34T>G)
c.5894-34T>G (n.5894-34T>G)
c.5723-34T>G (n.5723-34T>G)
c.5771-34T>G (n.5771-34T>G)
c.6020-34T>G (n.6020-34T>G)
c.5648-34T>G (n.5648-34T>G)
c.5681-34T>G (n.5681-34T>G)
c.5672-34T>G (n.5672-34T>G)
c.5846-34T>G (n.5846-34T>G)
n.806-34T>G
n.2184-34T>G
n.811-34T>G
c.5825-34T>G (n.5825-34T>G)
c.5804-34T>G (n.5804-34T>G)
c.5705-34T>G (n.5705-34T>G)
c.5741-34T>G (n.5741-34T>G)
c.5738-34T>G (n.5738-34T>G)
c.5732-34T>G (n.5732-34T>G)
c.5765-34T>G (n.5765-34T>G)
c.5699-34T>G (n.5699-34T>G)
c.5309-34T>G (n.5309-34T>G)
c.5453-34T>G (n.5453-34T>G)
c.5348-34T>G (n.5348-34T>G)
c.1754-34T>G (n.1754-34T>G)
c.5384-34T>G (n.5384-34T>G)
c.5930-34T>G (n.5930-34T>G)
n.333+4008A>C
c.5300-34T>G (n.5300-34T>G)
c.4745-34T>G (n.4745-34T>G)
c.2855-34T>G (n.2855-34T>G)
c.5999-34T>G (n.5999-34T>G)
c.6503-34T>G (n.6503-34T>G)
c.6398-34T>G (n.6398-34T>G)
c.6185-34T>G (n.6185-34T>G)
c.6128-34T>G (n.6128-34T>G)
c.6044-34T>G (n.6044-34T>G)
c.6029-34T>G (n.6029-34T>G)
c.5933-34T>G (n.5933-34T>G)
c.5924-34T>G (n.5924-34T>G)
c.5906-34T>G (n.5906-34T>G)
c.5900-34T>G (n.5900-34T>G)
c.5873-34T>G (n.5873-34T>G)
c.5867-34T>G (n.5867-34T>G)
c.5849-34T>G (n.5849-34T>G)
c.5843-34T>G (n.5843-34T>G)
c.5840-34T>G (n.5840-34T>G)
c.5816-34T>G (n.5816-34T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686132T=CA2012350939CACNA1C,CACNA1C-AS1c.5756-34T= (n.5756-34T=)
c.5786-34T= (n.5786-34T=)
c.5861-34T= (n.5861-34T=)
c.5894-34T= (n.5894-34T=)
c.5723-34T= (n.5723-34T=)
c.5771-34T= (n.5771-34T=)
c.6020-34T= (n.6020-34T=)
c.5648-34T= (n.5648-34T=)
c.5681-34T= (n.5681-34T=)
c.5672-34T= (n.5672-34T=)
c.5846-34T= (n.5846-34T=)
n.806-34T=
n.2184-34T=
n.811-34T=
c.5825-34T= (n.5825-34T=)
c.5804-34T= (n.5804-34T=)
c.5705-34T= (n.5705-34T=)
c.5741-34T= (n.5741-34T=)
c.5738-34T= (n.5738-34T=)
c.5732-34T= (n.5732-34T=)
c.5765-34T= (n.5765-34T=)
c.5699-34T= (n.5699-34T=)
c.5309-34T= (n.5309-34T=)
c.5453-34T= (n.5453-34T=)
c.5348-34T= (n.5348-34T=)
c.1754-34T= (n.1754-34T=)
c.5384-34T= (n.5384-34T=)
c.5930-34T= (n.5930-34T=)
n.333+4008A=
c.5300-34T= (n.5300-34T=)
c.4745-34T= (n.4745-34T=)
c.2855-34T= (n.2855-34T=)
c.5999-34T= (n.5999-34T=)
c.6503-34T= (n.6503-34T=)
c.6398-34T= (n.6398-34T=)
c.6185-34T= (n.6185-34T=)
c.6128-34T= (n.6128-34T=)
c.6044-34T= (n.6044-34T=)
c.6029-34T= (n.6029-34T=)
c.5933-34T= (n.5933-34T=)
c.5924-34T= (n.5924-34T=)
c.5906-34T= (n.5906-34T=)
c.5900-34T= (n.5900-34T=)
c.5873-34T= (n.5873-34T=)
c.5867-34T= (n.5867-34T=)
c.5849-34T= (n.5849-34T=)
c.5843-34T= (n.5843-34T=)
c.5840-34T= (n.5840-34T=)
c.5816-34T= (n.5816-34T=)
12g.2686133G>CCA6389945CACNA1C,CACNA1C-AS1c.5756-33G>C (n.5756-33G>C)
c.5786-33G>C (n.5786-33G>C)
c.5861-33G>C (n.5861-33G>C)
c.5894-33G>C (n.5894-33G>C)
c.5723-33G>C (n.5723-33G>C)
c.5771-33G>C (n.5771-33G>C)
c.6020-33G>C (n.6020-33G>C)
c.5648-33G>C (n.5648-33G>C)
c.5681-33G>C (n.5681-33G>C)
c.5672-33G>C (n.5672-33G>C)
c.5846-33G>C (n.5846-33G>C)
n.806-33G>C
n.2184-33G>C
n.811-33G>C
c.5825-33G>C (n.5825-33G>C)
c.5804-33G>C (n.5804-33G>C)
c.5705-33G>C (n.5705-33G>C)
c.5741-33G>C (n.5741-33G>C)
c.5738-33G>C (n.5738-33G>C)
c.5732-33G>C (n.5732-33G>C)
c.5765-33G>C (n.5765-33G>C)
c.5699-33G>C (n.5699-33G>C)
c.5309-33G>C (n.5309-33G>C)
c.5453-33G>C (n.5453-33G>C)
c.5348-33G>C (n.5348-33G>C)
c.1754-33G>C (n.1754-33G>C)
c.5384-33G>C (n.5384-33G>C)
c.5930-33G>C (n.5930-33G>C)
n.333+4007C>G
c.5300-33G>C (n.5300-33G>C)
c.4745-33G>C (n.4745-33G>C)
c.2855-33G>C (n.2855-33G>C)
c.5999-33G>C (n.5999-33G>C)
c.6503-33G>C (n.6503-33G>C)
c.6398-33G>C (n.6398-33G>C)
c.6185-33G>C (n.6185-33G>C)
c.6128-33G>C (n.6128-33G>C)
c.6044-33G>C (n.6044-33G>C)
c.6029-33G>C (n.6029-33G>C)
c.5933-33G>C (n.5933-33G>C)
c.5924-33G>C (n.5924-33G>C)
c.5906-33G>C (n.5906-33G>C)
c.5900-33G>C (n.5900-33G>C)
c.5873-33G>C (n.5873-33G>C)
c.5867-33G>C (n.5867-33G>C)
c.5849-33G>C (n.5849-33G>C)
c.5843-33G>C (n.5843-33G>C)
c.5840-33G>C (n.5840-33G>C)
c.5816-33G>C (n.5816-33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686133G=CA2012350940CACNA1C,CACNA1C-AS1c.5756-33G= (n.5756-33G=)
c.5786-33G= (n.5786-33G=)
c.5861-33G= (n.5861-33G=)
c.5894-33G= (n.5894-33G=)
c.5723-33G= (n.5723-33G=)
c.5771-33G= (n.5771-33G=)
c.6020-33G= (n.6020-33G=)
c.5648-33G= (n.5648-33G=)
c.5681-33G= (n.5681-33G=)
c.5672-33G= (n.5672-33G=)
c.5846-33G= (n.5846-33G=)
n.806-33G=
n.2184-33G=
n.811-33G=
c.5825-33G= (n.5825-33G=)
c.5804-33G= (n.5804-33G=)
c.5705-33G= (n.5705-33G=)
c.5741-33G= (n.5741-33G=)
c.5738-33G= (n.5738-33G=)
c.5732-33G= (n.5732-33G=)
c.5765-33G= (n.5765-33G=)
c.5699-33G= (n.5699-33G=)
c.5309-33G= (n.5309-33G=)
c.5453-33G= (n.5453-33G=)
c.5348-33G= (n.5348-33G=)
c.1754-33G= (n.1754-33G=)
c.5384-33G= (n.5384-33G=)
c.5930-33G= (n.5930-33G=)
n.333+4007C=
c.5300-33G= (n.5300-33G=)
c.4745-33G= (n.4745-33G=)
c.2855-33G= (n.2855-33G=)
c.5999-33G= (n.5999-33G=)
c.6503-33G= (n.6503-33G=)
c.6398-33G= (n.6398-33G=)
c.6185-33G= (n.6185-33G=)
c.6128-33G= (n.6128-33G=)
c.6044-33G= (n.6044-33G=)
c.6029-33G= (n.6029-33G=)
c.5933-33G= (n.5933-33G=)
c.5924-33G= (n.5924-33G=)
c.5906-33G= (n.5906-33G=)
c.5900-33G= (n.5900-33G=)
c.5873-33G= (n.5873-33G=)
c.5867-33G= (n.5867-33G=)
c.5849-33G= (n.5849-33G=)
c.5843-33G= (n.5843-33G=)
c.5840-33G= (n.5840-33G=)
c.5816-33G= (n.5816-33G=)
12g.2686133G>TCA602741128CACNA1C,CACNA1C-AS1c.5756-33G>T (n.5756-33G>T)
c.5786-33G>T (n.5786-33G>T)
c.5861-33G>T (n.5861-33G>T)
c.5894-33G>T (n.5894-33G>T)
c.5723-33G>T (n.5723-33G>T)
c.5771-33G>T (n.5771-33G>T)
c.6020-33G>T (n.6020-33G>T)
c.5648-33G>T (n.5648-33G>T)
c.5681-33G>T (n.5681-33G>T)
c.5672-33G>T (n.5672-33G>T)
c.5846-33G>T (n.5846-33G>T)
n.806-33G>T
n.2184-33G>T
n.811-33G>T
c.5825-33G>T (n.5825-33G>T)
c.5804-33G>T (n.5804-33G>T)
c.5705-33G>T (n.5705-33G>T)
c.5741-33G>T (n.5741-33G>T)
c.5738-33G>T (n.5738-33G>T)
c.5732-33G>T (n.5732-33G>T)
c.5765-33G>T (n.5765-33G>T)
c.5699-33G>T (n.5699-33G>T)
c.5309-33G>T (n.5309-33G>T)
c.5453-33G>T (n.5453-33G>T)
c.5348-33G>T (n.5348-33G>T)
c.1754-33G>T (n.1754-33G>T)
c.5384-33G>T (n.5384-33G>T)
c.5930-33G>T (n.5930-33G>T)
n.333+4007C>A
c.5300-33G>T (n.5300-33G>T)
c.4745-33G>T (n.4745-33G>T)
c.2855-33G>T (n.2855-33G>T)
c.5999-33G>T (n.5999-33G>T)
c.6503-33G>T (n.6503-33G>T)
c.6398-33G>T (n.6398-33G>T)
c.6185-33G>T (n.6185-33G>T)
c.6128-33G>T (n.6128-33G>T)
c.6044-33G>T (n.6044-33G>T)
c.6029-33G>T (n.6029-33G>T)
c.5933-33G>T (n.5933-33G>T)
c.5924-33G>T (n.5924-33G>T)
c.5906-33G>T (n.5906-33G>T)
c.5900-33G>T (n.5900-33G>T)
c.5873-33G>T (n.5873-33G>T)
c.5867-33G>T (n.5867-33G>T)
c.5849-33G>T (n.5849-33G>T)
c.5843-33G>T (n.5843-33G>T)
c.5840-33G>T (n.5840-33G>T)
c.5816-33G>T (n.5816-33G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686134C>ACA2617072111CACNA1C,CACNA1C-AS1c.5756-32C>A (n.5756-32C>A)
c.5786-32C>A (n.5786-32C>A)
c.5861-32C>A (n.5861-32C>A)
c.5894-32C>A (n.5894-32C>A)
c.5723-32C>A (n.5723-32C>A)
c.5771-32C>A (n.5771-32C>A)
c.6020-32C>A (n.6020-32C>A)
c.5648-32C>A (n.5648-32C>A)
c.5681-32C>A (n.5681-32C>A)
c.5672-32C>A (n.5672-32C>A)
c.5846-32C>A (n.5846-32C>A)
n.806-32C>A
n.2184-32C>A
n.811-32C>A
c.5825-32C>A (n.5825-32C>A)
c.5804-32C>A (n.5804-32C>A)
c.5705-32C>A (n.5705-32C>A)
c.5741-32C>A (n.5741-32C>A)
c.5738-32C>A (n.5738-32C>A)
c.5732-32C>A (n.5732-32C>A)
c.5765-32C>A (n.5765-32C>A)
c.5699-32C>A (n.5699-32C>A)
c.5309-32C>A (n.5309-32C>A)
c.5453-32C>A (n.5453-32C>A)
c.5348-32C>A (n.5348-32C>A)
c.1754-32C>A (n.1754-32C>A)
c.5384-32C>A (n.5384-32C>A)
c.5930-32C>A (n.5930-32C>A)
n.333+4006G>T
c.5300-32C>A (n.5300-32C>A)
c.4745-32C>A (n.4745-32C>A)
c.2855-32C>A (n.2855-32C>A)
c.5999-32C>A (n.5999-32C>A)
c.6503-32C>A (n.6503-32C>A)
c.6398-32C>A (n.6398-32C>A)
c.6185-32C>A (n.6185-32C>A)
c.6128-32C>A (n.6128-32C>A)
c.6044-32C>A (n.6044-32C>A)
c.6029-32C>A (n.6029-32C>A)
c.5933-32C>A (n.5933-32C>A)
c.5924-32C>A (n.5924-32C>A)
c.5906-32C>A (n.5906-32C>A)
c.5900-32C>A (n.5900-32C>A)
c.5873-32C>A (n.5873-32C>A)
c.5867-32C>A (n.5867-32C>A)
c.5849-32C>A (n.5849-32C>A)
c.5843-32C>A (n.5843-32C>A)
c.5840-32C>A (n.5840-32C>A)
c.5816-32C>A (n.5816-32C>A)
 gnomAD v4
12g.2686134C>TCA2575046104CACNA1C,CACNA1C-AS1c.5756-32C>T (n.5756-32C>T)
c.5786-32C>T (n.5786-32C>T)
c.5861-32C>T (n.5861-32C>T)
c.5894-32C>T (n.5894-32C>T)
c.5723-32C>T (n.5723-32C>T)
c.5771-32C>T (n.5771-32C>T)
c.6020-32C>T (n.6020-32C>T)
c.5648-32C>T (n.5648-32C>T)
c.5681-32C>T (n.5681-32C>T)
c.5672-32C>T (n.5672-32C>T)
c.5846-32C>T (n.5846-32C>T)
n.806-32C>T
n.2184-32C>T
n.811-32C>T
c.5825-32C>T (n.5825-32C>T)
c.5804-32C>T (n.5804-32C>T)
c.5705-32C>T (n.5705-32C>T)
c.5741-32C>T (n.5741-32C>T)
c.5738-32C>T (n.5738-32C>T)
c.5732-32C>T (n.5732-32C>T)
c.5765-32C>T (n.5765-32C>T)
c.5699-32C>T (n.5699-32C>T)
c.5309-32C>T (n.5309-32C>T)
c.5453-32C>T (n.5453-32C>T)
c.5348-32C>T (n.5348-32C>T)
c.1754-32C>T (n.1754-32C>T)
c.5384-32C>T (n.5384-32C>T)
c.5930-32C>T (n.5930-32C>T)
n.333+4006G>A
c.5300-32C>T (n.5300-32C>T)
c.4745-32C>T (n.4745-32C>T)
c.2855-32C>T (n.2855-32C>T)
c.5999-32C>T (n.5999-32C>T)
c.6503-32C>T (n.6503-32C>T)
c.6398-32C>T (n.6398-32C>T)
c.6185-32C>T (n.6185-32C>T)
c.6128-32C>T (n.6128-32C>T)
c.6044-32C>T (n.6044-32C>T)
c.6029-32C>T (n.6029-32C>T)
c.5933-32C>T (n.5933-32C>T)
c.5924-32C>T (n.5924-32C>T)
c.5906-32C>T (n.5906-32C>T)
c.5900-32C>T (n.5900-32C>T)
c.5873-32C>T (n.5873-32C>T)
c.5867-32C>T (n.5867-32C>T)
c.5849-32C>T (n.5849-32C>T)
c.5843-32C>T (n.5843-32C>T)
c.5840-32C>T (n.5840-32C>T)
c.5816-32C>T (n.5816-32C>T)
12g.2686135C>ACA2617072113CACNA1C,CACNA1C-AS1c.5756-31C>A (n.5756-31C>A)
c.5786-31C>A (n.5786-31C>A)
c.5861-31C>A (n.5861-31C>A)
c.5894-31C>A (n.5894-31C>A)
c.5723-31C>A (n.5723-31C>A)
c.5771-31C>A (n.5771-31C>A)
c.6020-31C>A (n.6020-31C>A)
c.5648-31C>A (n.5648-31C>A)
c.5681-31C>A (n.5681-31C>A)
c.5672-31C>A (n.5672-31C>A)
c.5846-31C>A (n.5846-31C>A)
n.806-31C>A
n.2184-31C>A
n.811-31C>A
c.5825-31C>A (n.5825-31C>A)
c.5804-31C>A (n.5804-31C>A)
c.5705-31C>A (n.5705-31C>A)
c.5741-31C>A (n.5741-31C>A)
c.5738-31C>A (n.5738-31C>A)
c.5732-31C>A (n.5732-31C>A)
c.5765-31C>A (n.5765-31C>A)
c.5699-31C>A (n.5699-31C>A)
c.5309-31C>A (n.5309-31C>A)
c.5453-31C>A (n.5453-31C>A)
c.5348-31C>A (n.5348-31C>A)
c.1754-31C>A (n.1754-31C>A)
c.5384-31C>A (n.5384-31C>A)
c.5930-31C>A (n.5930-31C>A)
n.333+4005G>T
c.5300-31C>A (n.5300-31C>A)
c.4745-31C>A (n.4745-31C>A)
c.2855-31C>A (n.2855-31C>A)
c.5999-31C>A (n.5999-31C>A)
c.6503-31C>A (n.6503-31C>A)
c.6398-31C>A (n.6398-31C>A)
c.6185-31C>A (n.6185-31C>A)
c.6128-31C>A (n.6128-31C>A)
c.6044-31C>A (n.6044-31C>A)
c.6029-31C>A (n.6029-31C>A)
c.5933-31C>A (n.5933-31C>A)
c.5924-31C>A (n.5924-31C>A)
c.5906-31C>A (n.5906-31C>A)
c.5900-31C>A (n.5900-31C>A)
c.5873-31C>A (n.5873-31C>A)
c.5867-31C>A (n.5867-31C>A)
c.5849-31C>A (n.5849-31C>A)
c.5843-31C>A (n.5843-31C>A)
c.5840-31C>A (n.5840-31C>A)
c.5816-31C>A (n.5816-31C>A)
 gnomAD v4
12g.2686136C>ACA2575046105CACNA1C,CACNA1C-AS1c.5756-30C>A (n.5756-30C>A)
c.5786-30C>A (n.5786-30C>A)
c.5861-30C>A (n.5861-30C>A)
c.5894-30C>A (n.5894-30C>A)
c.5723-30C>A (n.5723-30C>A)
c.5771-30C>A (n.5771-30C>A)
c.6020-30C>A (n.6020-30C>A)
c.5648-30C>A (n.5648-30C>A)
c.5681-30C>A (n.5681-30C>A)
c.5672-30C>A (n.5672-30C>A)
c.5846-30C>A (n.5846-30C>A)
n.806-30C>A
n.2184-30C>A
n.811-30C>A
c.5825-30C>A (n.5825-30C>A)
c.5804-30C>A (n.5804-30C>A)
c.5705-30C>A (n.5705-30C>A)
c.5741-30C>A (n.5741-30C>A)
c.5738-30C>A (n.5738-30C>A)
c.5732-30C>A (n.5732-30C>A)
c.5765-30C>A (n.5765-30C>A)
c.5699-30C>A (n.5699-30C>A)
c.5309-30C>A (n.5309-30C>A)
c.5453-30C>A (n.5453-30C>A)
c.5348-30C>A (n.5348-30C>A)
c.1754-30C>A (n.1754-30C>A)
c.5384-30C>A (n.5384-30C>A)
c.5930-30C>A (n.5930-30C>A)
n.333+4004G>T
c.5300-30C>A (n.5300-30C>A)
c.4745-30C>A (n.4745-30C>A)
c.2855-30C>A (n.2855-30C>A)
c.5999-30C>A (n.5999-30C>A)
c.6503-30C>A (n.6503-30C>A)
c.6398-30C>A (n.6398-30C>A)
c.6185-30C>A (n.6185-30C>A)
c.6128-30C>A (n.6128-30C>A)
c.6044-30C>A (n.6044-30C>A)
c.6029-30C>A (n.6029-30C>A)
c.5933-30C>A (n.5933-30C>A)
c.5924-30C>A (n.5924-30C>A)
c.5906-30C>A (n.5906-30C>A)
c.5900-30C>A (n.5900-30C>A)
c.5873-30C>A (n.5873-30C>A)
c.5867-30C>A (n.5867-30C>A)
c.5849-30C>A (n.5849-30C>A)
c.5843-30C>A (n.5843-30C>A)
c.5840-30C>A (n.5840-30C>A)
c.5816-30C>A (n.5816-30C>A)
12g.2686136C=CA2012350941CACNA1C,CACNA1C-AS1c.5756-30C= (n.5756-30C=)
c.5786-30C= (n.5786-30C=)
c.5861-30C= (n.5861-30C=)
c.5894-30C= (n.5894-30C=)
c.5723-30C= (n.5723-30C=)
c.5771-30C= (n.5771-30C=)
c.6020-30C= (n.6020-30C=)
c.5648-30C= (n.5648-30C=)
c.5681-30C= (n.5681-30C=)
c.5672-30C= (n.5672-30C=)
c.5846-30C= (n.5846-30C=)
n.806-30C=
n.2184-30C=
n.811-30C=
c.5825-30C= (n.5825-30C=)
c.5804-30C= (n.5804-30C=)
c.5705-30C= (n.5705-30C=)
c.5741-30C= (n.5741-30C=)
c.5738-30C= (n.5738-30C=)
c.5732-30C= (n.5732-30C=)
c.5765-30C= (n.5765-30C=)
c.5699-30C= (n.5699-30C=)
c.5309-30C= (n.5309-30C=)
c.5453-30C= (n.5453-30C=)
c.5348-30C= (n.5348-30C=)
c.1754-30C= (n.1754-30C=)
c.5384-30C= (n.5384-30C=)
c.5930-30C= (n.5930-30C=)
n.333+4004G=
c.5300-30C= (n.5300-30C=)
c.4745-30C= (n.4745-30C=)
c.2855-30C= (n.2855-30C=)
c.5999-30C= (n.5999-30C=)
c.6503-30C= (n.6503-30C=)
c.6398-30C= (n.6398-30C=)
c.6185-30C= (n.6185-30C=)
c.6128-30C= (n.6128-30C=)
c.6044-30C= (n.6044-30C=)
c.6029-30C= (n.6029-30C=)
c.5933-30C= (n.5933-30C=)
c.5924-30C= (n.5924-30C=)
c.5906-30C= (n.5906-30C=)
c.5900-30C= (n.5900-30C=)
c.5873-30C= (n.5873-30C=)
c.5867-30C= (n.5867-30C=)
c.5849-30C= (n.5849-30C=)
c.5843-30C= (n.5843-30C=)
c.5840-30C= (n.5840-30C=)
c.5816-30C= (n.5816-30C=)
12g.2686136C>GCA2012350942CACNA1C,CACNA1C-AS1c.5756-30C>G (n.5756-30C>G)
c.5786-30C>G (n.5786-30C>G)
c.5861-30C>G (n.5861-30C>G)
c.5894-30C>G (n.5894-30C>G)
c.5723-30C>G (n.5723-30C>G)
c.5771-30C>G (n.5771-30C>G)
c.6020-30C>G (n.6020-30C>G)
c.5648-30C>G (n.5648-30C>G)
c.5681-30C>G (n.5681-30C>G)
c.5672-30C>G (n.5672-30C>G)
c.5846-30C>G (n.5846-30C>G)
n.806-30C>G
n.2184-30C>G
n.811-30C>G
c.5825-30C>G (n.5825-30C>G)
c.5804-30C>G (n.5804-30C>G)
c.5705-30C>G (n.5705-30C>G)
c.5741-30C>G (n.5741-30C>G)
c.5738-30C>G (n.5738-30C>G)
c.5732-30C>G (n.5732-30C>G)
c.5765-30C>G (n.5765-30C>G)
c.5699-30C>G (n.5699-30C>G)
c.5309-30C>G (n.5309-30C>G)
c.5453-30C>G (n.5453-30C>G)
c.5348-30C>G (n.5348-30C>G)
c.1754-30C>G (n.1754-30C>G)
c.5384-30C>G (n.5384-30C>G)
c.5930-30C>G (n.5930-30C>G)
n.333+4004G>C
c.5300-30C>G (n.5300-30C>G)
c.4745-30C>G (n.4745-30C>G)
c.2855-30C>G (n.2855-30C>G)
c.5999-30C>G (n.5999-30C>G)
c.6503-30C>G (n.6503-30C>G)
c.6398-30C>G (n.6398-30C>G)
c.6185-30C>G (n.6185-30C>G)
c.6128-30C>G (n.6128-30C>G)
c.6044-30C>G (n.6044-30C>G)
c.6029-30C>G (n.6029-30C>G)
c.5933-30C>G (n.5933-30C>G)
c.5924-30C>G (n.5924-30C>G)
c.5906-30C>G (n.5906-30C>G)
c.5900-30C>G (n.5900-30C>G)
c.5873-30C>G (n.5873-30C>G)
c.5867-30C>G (n.5867-30C>G)
c.5849-30C>G (n.5849-30C>G)
c.5843-30C>G (n.5843-30C>G)
c.5840-30C>G (n.5840-30C>G)
c.5816-30C>G (n.5816-30C>G)
 dbSNP gnomAD v4
12g.2686136C>TCA2617072117CACNA1C,CACNA1C-AS1c.5756-30C>T (n.5756-30C>T)
c.5786-30C>T (n.5786-30C>T)
c.5861-30C>T (n.5861-30C>T)
c.5894-30C>T (n.5894-30C>T)
c.5723-30C>T (n.5723-30C>T)
c.5771-30C>T (n.5771-30C>T)
c.6020-30C>T (n.6020-30C>T)
c.5648-30C>T (n.5648-30C>T)
c.5681-30C>T (n.5681-30C>T)
c.5672-30C>T (n.5672-30C>T)
c.5846-30C>T (n.5846-30C>T)
n.806-30C>T
n.2184-30C>T
n.811-30C>T
c.5825-30C>T (n.5825-30C>T)
c.5804-30C>T (n.5804-30C>T)
c.5705-30C>T (n.5705-30C>T)
c.5741-30C>T (n.5741-30C>T)
c.5738-30C>T (n.5738-30C>T)
c.5732-30C>T (n.5732-30C>T)
c.5765-30C>T (n.5765-30C>T)
c.5699-30C>T (n.5699-30C>T)
c.5309-30C>T (n.5309-30C>T)
c.5453-30C>T (n.5453-30C>T)
c.5348-30C>T (n.5348-30C>T)
c.1754-30C>T (n.1754-30C>T)
c.5384-30C>T (n.5384-30C>T)
c.5930-30C>T (n.5930-30C>T)
n.333+4004G>A
c.5300-30C>T (n.5300-30C>T)
c.4745-30C>T (n.4745-30C>T)
c.2855-30C>T (n.2855-30C>T)
c.5999-30C>T (n.5999-30C>T)
c.6503-30C>T (n.6503-30C>T)
c.6398-30C>T (n.6398-30C>T)
c.6185-30C>T (n.6185-30C>T)
c.6128-30C>T (n.6128-30C>T)
c.6044-30C>T (n.6044-30C>T)
c.6029-30C>T (n.6029-30C>T)
c.5933-30C>T (n.5933-30C>T)
c.5924-30C>T (n.5924-30C>T)
c.5906-30C>T (n.5906-30C>T)
c.5900-30C>T (n.5900-30C>T)
c.5873-30C>T (n.5873-30C>T)
c.5867-30C>T (n.5867-30C>T)
c.5849-30C>T (n.5849-30C>T)
c.5843-30C>T (n.5843-30C>T)
c.5840-30C>T (n.5840-30C>T)
c.5816-30C>T (n.5816-30C>T)
 gnomAD v4
12g.2686138G>ACA2617072119CACNA1C,CACNA1C-AS1c.5756-28G>A (n.5756-28G>A)
c.5786-28G>A (n.5786-28G>A)
c.5861-28G>A (n.5861-28G>A)
c.5894-28G>A (n.5894-28G>A)
c.5723-28G>A (n.5723-28G>A)
c.5771-28G>A (n.5771-28G>A)
c.6020-28G>A (n.6020-28G>A)
c.5648-28G>A (n.5648-28G>A)
c.5681-28G>A (n.5681-28G>A)
c.5672-28G>A (n.5672-28G>A)
c.5846-28G>A (n.5846-28G>A)
n.806-28G>A
n.2184-28G>A
n.811-28G>A
c.5825-28G>A (n.5825-28G>A)
c.5804-28G>A (n.5804-28G>A)
c.5705-28G>A (n.5705-28G>A)
c.5741-28G>A (n.5741-28G>A)
c.5738-28G>A (n.5738-28G>A)
c.5732-28G>A (n.5732-28G>A)
c.5765-28G>A (n.5765-28G>A)
c.5699-28G>A (n.5699-28G>A)
c.5309-28G>A (n.5309-28G>A)
c.5453-28G>A (n.5453-28G>A)
c.5348-28G>A (n.5348-28G>A)
c.1754-28G>A (n.1754-28G>A)
c.5384-28G>A (n.5384-28G>A)
c.5930-28G>A (n.5930-28G>A)
n.333+4002C>T
c.5300-28G>A (n.5300-28G>A)
c.4745-28G>A (n.4745-28G>A)
c.2855-28G>A (n.2855-28G>A)
c.5999-28G>A (n.5999-28G>A)
c.6503-28G>A (n.6503-28G>A)
c.6398-28G>A (n.6398-28G>A)
c.6185-28G>A (n.6185-28G>A)
c.6128-28G>A (n.6128-28G>A)
c.6044-28G>A (n.6044-28G>A)
c.6029-28G>A (n.6029-28G>A)
c.5933-28G>A (n.5933-28G>A)
c.5924-28G>A (n.5924-28G>A)
c.5906-28G>A (n.5906-28G>A)
c.5900-28G>A (n.5900-28G>A)
c.5873-28G>A (n.5873-28G>A)
c.5867-28G>A (n.5867-28G>A)
c.5849-28G>A (n.5849-28G>A)
c.5843-28G>A (n.5843-28G>A)
c.5840-28G>A (n.5840-28G>A)
c.5816-28G>A (n.5816-28G>A)
 gnomAD v4
12g.2686138G>CCA2012350944CACNA1C,CACNA1C-AS1c.5756-28G>C (n.5756-28G>C)
c.5786-28G>C (n.5786-28G>C)
c.5861-28G>C (n.5861-28G>C)
c.5894-28G>C (n.5894-28G>C)
c.5723-28G>C (n.5723-28G>C)
c.5771-28G>C (n.5771-28G>C)
c.6020-28G>C (n.6020-28G>C)
c.5648-28G>C (n.5648-28G>C)
c.5681-28G>C (n.5681-28G>C)
c.5672-28G>C (n.5672-28G>C)
c.5846-28G>C (n.5846-28G>C)
n.806-28G>C
n.2184-28G>C
n.811-28G>C
c.5825-28G>C (n.5825-28G>C)
c.5804-28G>C (n.5804-28G>C)
c.5705-28G>C (n.5705-28G>C)
c.5741-28G>C (n.5741-28G>C)
c.5738-28G>C (n.5738-28G>C)
c.5732-28G>C (n.5732-28G>C)
c.5765-28G>C (n.5765-28G>C)
c.5699-28G>C (n.5699-28G>C)
c.5309-28G>C (n.5309-28G>C)
c.5453-28G>C (n.5453-28G>C)
c.5348-28G>C (n.5348-28G>C)
c.1754-28G>C (n.1754-28G>C)
c.5384-28G>C (n.5384-28G>C)
c.5930-28G>C (n.5930-28G>C)
n.333+4002C>G
c.5300-28G>C (n.5300-28G>C)
c.4745-28G>C (n.4745-28G>C)
c.2855-28G>C (n.2855-28G>C)
c.5999-28G>C (n.5999-28G>C)
c.6503-28G>C (n.6503-28G>C)
c.6398-28G>C (n.6398-28G>C)
c.6185-28G>C (n.6185-28G>C)
c.6128-28G>C (n.6128-28G>C)
c.6044-28G>C (n.6044-28G>C)
c.6029-28G>C (n.6029-28G>C)
c.5933-28G>C (n.5933-28G>C)
c.5924-28G>C (n.5924-28G>C)
c.5906-28G>C (n.5906-28G>C)
c.5900-28G>C (n.5900-28G>C)
c.5873-28G>C (n.5873-28G>C)
c.5867-28G>C (n.5867-28G>C)
c.5849-28G>C (n.5849-28G>C)
c.5843-28G>C (n.5843-28G>C)
c.5840-28G>C (n.5840-28G>C)
c.5816-28G>C (n.5816-28G>C)
 dbSNP gnomAD v4
12g.2686138G=CA2012350943CACNA1C,CACNA1C-AS1c.5756-28G= (n.5756-28G=)
c.5786-28G= (n.5786-28G=)
c.5861-28G= (n.5861-28G=)
c.5894-28G= (n.5894-28G=)
c.5723-28G= (n.5723-28G=)
c.5771-28G= (n.5771-28G=)
c.6020-28G= (n.6020-28G=)
c.5648-28G= (n.5648-28G=)
c.5681-28G= (n.5681-28G=)
c.5672-28G= (n.5672-28G=)
c.5846-28G= (n.5846-28G=)
n.806-28G=
n.2184-28G=
n.811-28G=
c.5825-28G= (n.5825-28G=)
c.5804-28G= (n.5804-28G=)
c.5705-28G= (n.5705-28G=)
c.5741-28G= (n.5741-28G=)
c.5738-28G= (n.5738-28G=)
c.5732-28G= (n.5732-28G=)
c.5765-28G= (n.5765-28G=)
c.5699-28G= (n.5699-28G=)
c.5309-28G= (n.5309-28G=)
c.5453-28G= (n.5453-28G=)
c.5348-28G= (n.5348-28G=)
c.1754-28G= (n.1754-28G=)
c.5384-28G= (n.5384-28G=)
c.5930-28G= (n.5930-28G=)
n.333+4002C=
c.5300-28G= (n.5300-28G=)
c.4745-28G= (n.4745-28G=)
c.2855-28G= (n.2855-28G=)
c.5999-28G= (n.5999-28G=)
c.6503-28G= (n.6503-28G=)
c.6398-28G= (n.6398-28G=)
c.6185-28G= (n.6185-28G=)
c.6128-28G= (n.6128-28G=)
c.6044-28G= (n.6044-28G=)
c.6029-28G= (n.6029-28G=)
c.5933-28G= (n.5933-28G=)
c.5924-28G= (n.5924-28G=)
c.5906-28G= (n.5906-28G=)
c.5900-28G= (n.5900-28G=)
c.5873-28G= (n.5873-28G=)
c.5867-28G= (n.5867-28G=)
c.5849-28G= (n.5849-28G=)
c.5843-28G= (n.5843-28G=)
c.5840-28G= (n.5840-28G=)
c.5816-28G= (n.5816-28G=)
12g.2686140T>CCA2527218032CACNA1C,CACNA1C-AS1c.5756-26T>C (n.5756-26T>C)
c.5786-26T>C (n.5786-26T>C)
c.5861-26T>C (n.5861-26T>C)
c.5894-26T>C (n.5894-26T>C)
c.5723-26T>C (n.5723-26T>C)
c.5771-26T>C (n.5771-26T>C)
c.6020-26T>C (n.6020-26T>C)
c.5648-26T>C (n.5648-26T>C)
c.5681-26T>C (n.5681-26T>C)
c.5672-26T>C (n.5672-26T>C)
c.5846-26T>C (n.5846-26T>C)
n.806-26T>C
n.2184-26T>C
n.811-26T>C
c.5825-26T>C (n.5825-26T>C)
c.5804-26T>C (n.5804-26T>C)
c.5705-26T>C (n.5705-26T>C)
c.5741-26T>C (n.5741-26T>C)
c.5738-26T>C (n.5738-26T>C)
c.5732-26T>C (n.5732-26T>C)
c.5765-26T>C (n.5765-26T>C)
c.5699-26T>C (n.5699-26T>C)
c.5309-26T>C (n.5309-26T>C)
c.5453-26T>C (n.5453-26T>C)
c.5348-26T>C (n.5348-26T>C)
c.1754-26T>C (n.1754-26T>C)
c.5384-26T>C (n.5384-26T>C)
c.5930-26T>C (n.5930-26T>C)
n.333+4000A>G
c.5300-26T>C (n.5300-26T>C)
c.4745-26T>C (n.4745-26T>C)
c.2855-26T>C (n.2855-26T>C)
c.5999-26T>C (n.5999-26T>C)
c.6503-26T>C (n.6503-26T>C)
c.6398-26T>C (n.6398-26T>C)
c.6185-26T>C (n.6185-26T>C)
c.6128-26T>C (n.6128-26T>C)
c.6044-26T>C (n.6044-26T>C)
c.6029-26T>C (n.6029-26T>C)
c.5933-26T>C (n.5933-26T>C)
c.5924-26T>C (n.5924-26T>C)
c.5906-26T>C (n.5906-26T>C)
c.5900-26T>C (n.5900-26T>C)
c.5873-26T>C (n.5873-26T>C)
c.5867-26T>C (n.5867-26T>C)
c.5849-26T>C (n.5849-26T>C)
c.5843-26T>C (n.5843-26T>C)
c.5840-26T>C (n.5840-26T>C)
c.5816-26T>C (n.5816-26T>C)
12g.2686141G>ACA6389946CACNA1C,CACNA1C-AS1c.5756-25G>A (n.5756-25G>A)
c.5786-25G>A (n.5786-25G>A)
c.5861-25G>A (n.5861-25G>A)
c.5894-25G>A (n.5894-25G>A)
c.5723-25G>A (n.5723-25G>A)
c.5771-25G>A (n.5771-25G>A)
c.6020-25G>A (n.6020-25G>A)
c.5648-25G>A (n.5648-25G>A)
c.5681-25G>A (n.5681-25G>A)
c.5672-25G>A (n.5672-25G>A)
c.5846-25G>A (n.5846-25G>A)
n.806-25G>A
n.2184-25G>A
n.811-25G>A
c.5825-25G>A (n.5825-25G>A)
c.5804-25G>A (n.5804-25G>A)
c.5705-25G>A (n.5705-25G>A)
c.5741-25G>A (n.5741-25G>A)
c.5738-25G>A (n.5738-25G>A)
c.5732-25G>A (n.5732-25G>A)
c.5765-25G>A (n.5765-25G>A)
c.5699-25G>A (n.5699-25G>A)
c.5309-25G>A (n.5309-25G>A)
c.5453-25G>A (n.5453-25G>A)
c.5348-25G>A (n.5348-25G>A)
c.1754-25G>A (n.1754-25G>A)
c.5384-25G>A (n.5384-25G>A)
c.5930-25G>A (n.5930-25G>A)
n.333+3999C>T
c.5300-25G>A (n.5300-25G>A)
c.4745-25G>A (n.4745-25G>A)
c.2855-25G>A (n.2855-25G>A)
c.5999-25G>A (n.5999-25G>A)
c.6503-25G>A (n.6503-25G>A)
c.6398-25G>A (n.6398-25G>A)
c.6185-25G>A (n.6185-25G>A)
c.6128-25G>A (n.6128-25G>A)
c.6044-25G>A (n.6044-25G>A)
c.6029-25G>A (n.6029-25G>A)
c.5933-25G>A (n.5933-25G>A)
c.5924-25G>A (n.5924-25G>A)
c.5906-25G>A (n.5906-25G>A)
c.5900-25G>A (n.5900-25G>A)
c.5873-25G>A (n.5873-25G>A)
c.5867-25G>A (n.5867-25G>A)
c.5849-25G>A (n.5849-25G>A)
c.5843-25G>A (n.5843-25G>A)
c.5840-25G>A (n.5840-25G>A)
c.5816-25G>A (n.5816-25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686141G>CCA6389947CACNA1C,CACNA1C-AS1c.5756-25G>C (n.5756-25G>C)
c.5786-25G>C (n.5786-25G>C)
c.5861-25G>C (n.5861-25G>C)
c.5894-25G>C (n.5894-25G>C)
c.5723-25G>C (n.5723-25G>C)
c.5771-25G>C (n.5771-25G>C)
c.6020-25G>C (n.6020-25G>C)
c.5648-25G>C (n.5648-25G>C)
c.5681-25G>C (n.5681-25G>C)
c.5672-25G>C (n.5672-25G>C)
c.5846-25G>C (n.5846-25G>C)
n.806-25G>C
n.2184-25G>C
n.811-25G>C
c.5825-25G>C (n.5825-25G>C)
c.5804-25G>C (n.5804-25G>C)
c.5705-25G>C (n.5705-25G>C)
c.5741-25G>C (n.5741-25G>C)
c.5738-25G>C (n.5738-25G>C)
c.5732-25G>C (n.5732-25G>C)
c.5765-25G>C (n.5765-25G>C)
c.5699-25G>C (n.5699-25G>C)
c.5309-25G>C (n.5309-25G>C)
c.5453-25G>C (n.5453-25G>C)
c.5348-25G>C (n.5348-25G>C)
c.1754-25G>C (n.1754-25G>C)
c.5384-25G>C (n.5384-25G>C)
c.5930-25G>C (n.5930-25G>C)
n.333+3999C>G
c.5300-25G>C (n.5300-25G>C)
c.4745-25G>C (n.4745-25G>C)
c.2855-25G>C (n.2855-25G>C)
c.5999-25G>C (n.5999-25G>C)
c.6503-25G>C (n.6503-25G>C)
c.6398-25G>C (n.6398-25G>C)
c.6185-25G>C (n.6185-25G>C)
c.6128-25G>C (n.6128-25G>C)
c.6044-25G>C (n.6044-25G>C)
c.6029-25G>C (n.6029-25G>C)
c.5933-25G>C (n.5933-25G>C)
c.5924-25G>C (n.5924-25G>C)
c.5906-25G>C (n.5906-25G>C)
c.5900-25G>C (n.5900-25G>C)
c.5873-25G>C (n.5873-25G>C)
c.5867-25G>C (n.5867-25G>C)
c.5849-25G>C (n.5849-25G>C)
c.5843-25G>C (n.5843-25G>C)
c.5840-25G>C (n.5840-25G>C)
c.5816-25G>C (n.5816-25G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686141G=CA2012350945CACNA1C,CACNA1C-AS1c.5756-25G= (n.5756-25G=)
c.5786-25G= (n.5786-25G=)
c.5861-25G= (n.5861-25G=)
c.5894-25G= (n.5894-25G=)
c.5723-25G= (n.5723-25G=)
c.5771-25G= (n.5771-25G=)
c.6020-25G= (n.6020-25G=)
c.5648-25G= (n.5648-25G=)
c.5681-25G= (n.5681-25G=)
c.5672-25G= (n.5672-25G=)
c.5846-25G= (n.5846-25G=)
n.806-25G=
n.2184-25G=
n.811-25G=
c.5825-25G= (n.5825-25G=)
c.5804-25G= (n.5804-25G=)
c.5705-25G= (n.5705-25G=)
c.5741-25G= (n.5741-25G=)
c.5738-25G= (n.5738-25G=)
c.5732-25G= (n.5732-25G=)
c.5765-25G= (n.5765-25G=)
c.5699-25G= (n.5699-25G=)
c.5309-25G= (n.5309-25G=)
c.5453-25G= (n.5453-25G=)
c.5348-25G= (n.5348-25G=)
c.1754-25G= (n.1754-25G=)
c.5384-25G= (n.5384-25G=)
c.5930-25G= (n.5930-25G=)
n.333+3999C=
c.5300-25G= (n.5300-25G=)
c.4745-25G= (n.4745-25G=)
c.2855-25G= (n.2855-25G=)
c.5999-25G= (n.5999-25G=)
c.6503-25G= (n.6503-25G=)
c.6398-25G= (n.6398-25G=)
c.6185-25G= (n.6185-25G=)
c.6128-25G= (n.6128-25G=)
c.6044-25G= (n.6044-25G=)
c.6029-25G= (n.6029-25G=)
c.5933-25G= (n.5933-25G=)
c.5924-25G= (n.5924-25G=)
c.5906-25G= (n.5906-25G=)
c.5900-25G= (n.5900-25G=)
c.5873-25G= (n.5873-25G=)
c.5867-25G= (n.5867-25G=)
c.5849-25G= (n.5849-25G=)
c.5843-25G= (n.5843-25G=)
c.5840-25G= (n.5840-25G=)
c.5816-25G= (n.5816-25G=)
12g.2686142G>CCA6389948CACNA1C,CACNA1C-AS1c.5756-24G>C (n.5756-24G>C)
c.5786-24G>C (n.5786-24G>C)
c.5861-24G>C (n.5861-24G>C)
c.5894-24G>C (n.5894-24G>C)
c.5723-24G>C (n.5723-24G>C)
c.5771-24G>C (n.5771-24G>C)
c.6020-24G>C (n.6020-24G>C)
c.5648-24G>C (n.5648-24G>C)
c.5681-24G>C (n.5681-24G>C)
c.5672-24G>C (n.5672-24G>C)
c.5846-24G>C (n.5846-24G>C)
n.806-24G>C
n.2184-24G>C
n.811-24G>C
c.5825-24G>C (n.5825-24G>C)
c.5804-24G>C (n.5804-24G>C)
c.5705-24G>C (n.5705-24G>C)
c.5741-24G>C (n.5741-24G>C)
c.5738-24G>C (n.5738-24G>C)
c.5732-24G>C (n.5732-24G>C)
c.5765-24G>C (n.5765-24G>C)
c.5699-24G>C (n.5699-24G>C)
c.5309-24G>C (n.5309-24G>C)
c.5453-24G>C (n.5453-24G>C)
c.5348-24G>C (n.5348-24G>C)
c.1754-24G>C (n.1754-24G>C)
c.5384-24G>C (n.5384-24G>C)
c.5930-24G>C (n.5930-24G>C)
n.333+3998C>G
c.5300-24G>C (n.5300-24G>C)
c.4745-24G>C (n.4745-24G>C)
c.2855-24G>C (n.2855-24G>C)
c.5999-24G>C (n.5999-24G>C)
c.6503-24G>C (n.6503-24G>C)
c.6398-24G>C (n.6398-24G>C)
c.6185-24G>C (n.6185-24G>C)
c.6128-24G>C (n.6128-24G>C)
c.6044-24G>C (n.6044-24G>C)
c.6029-24G>C (n.6029-24G>C)
c.5933-24G>C (n.5933-24G>C)
c.5924-24G>C (n.5924-24G>C)
c.5906-24G>C (n.5906-24G>C)
c.5900-24G>C (n.5900-24G>C)
c.5873-24G>C (n.5873-24G>C)
c.5867-24G>C (n.5867-24G>C)
c.5849-24G>C (n.5849-24G>C)
c.5843-24G>C (n.5843-24G>C)
c.5840-24G>C (n.5840-24G>C)
c.5816-24G>C (n.5816-24G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686142G=CA2012350946CACNA1C,CACNA1C-AS1c.5756-24G= (n.5756-24G=)
c.5786-24G= (n.5786-24G=)
c.5861-24G= (n.5861-24G=)
c.5894-24G= (n.5894-24G=)
c.5723-24G= (n.5723-24G=)
c.5771-24G= (n.5771-24G=)
c.6020-24G= (n.6020-24G=)
c.5648-24G= (n.5648-24G=)
c.5681-24G= (n.5681-24G=)
c.5672-24G= (n.5672-24G=)
c.5846-24G= (n.5846-24G=)
n.806-24G=
n.2184-24G=
n.811-24G=
c.5825-24G= (n.5825-24G=)
c.5804-24G= (n.5804-24G=)
c.5705-24G= (n.5705-24G=)
c.5741-24G= (n.5741-24G=)
c.5738-24G= (n.5738-24G=)
c.5732-24G= (n.5732-24G=)
c.5765-24G= (n.5765-24G=)
c.5699-24G= (n.5699-24G=)
c.5309-24G= (n.5309-24G=)
c.5453-24G= (n.5453-24G=)
c.5348-24G= (n.5348-24G=)
c.1754-24G= (n.1754-24G=)
c.5384-24G= (n.5384-24G=)
c.5930-24G= (n.5930-24G=)
n.333+3998C=
c.5300-24G= (n.5300-24G=)
c.4745-24G= (n.4745-24G=)
c.2855-24G= (n.2855-24G=)
c.5999-24G= (n.5999-24G=)
c.6503-24G= (n.6503-24G=)
c.6398-24G= (n.6398-24G=)
c.6185-24G= (n.6185-24G=)
c.6128-24G= (n.6128-24G=)
c.6044-24G= (n.6044-24G=)
c.6029-24G= (n.6029-24G=)
c.5933-24G= (n.5933-24G=)
c.5924-24G= (n.5924-24G=)
c.5906-24G= (n.5906-24G=)
c.5900-24G= (n.5900-24G=)
c.5873-24G= (n.5873-24G=)
c.5867-24G= (n.5867-24G=)
c.5849-24G= (n.5849-24G=)
c.5843-24G= (n.5843-24G=)
c.5840-24G= (n.5840-24G=)
c.5816-24G= (n.5816-24G=)
12g.2686143T>GCA2617072133CACNA1C,CACNA1C-AS1c.5756-23T>G (n.5756-23T>G)
c.5786-23T>G (n.5786-23T>G)
c.5861-23T>G (n.5861-23T>G)
c.5894-23T>G (n.5894-23T>G)
c.5723-23T>G (n.5723-23T>G)
c.5771-23T>G (n.5771-23T>G)
c.6020-23T>G (n.6020-23T>G)
c.5648-23T>G (n.5648-23T>G)
c.5681-23T>G (n.5681-23T>G)
c.5672-23T>G (n.5672-23T>G)
c.5846-23T>G (n.5846-23T>G)
n.806-23T>G
n.2184-23T>G
n.811-23T>G
c.5825-23T>G (n.5825-23T>G)
c.5804-23T>G (n.5804-23T>G)
c.5705-23T>G (n.5705-23T>G)
c.5741-23T>G (n.5741-23T>G)
c.5738-23T>G (n.5738-23T>G)
c.5732-23T>G (n.5732-23T>G)
c.5765-23T>G (n.5765-23T>G)
c.5699-23T>G (n.5699-23T>G)
c.5309-23T>G (n.5309-23T>G)
c.5453-23T>G (n.5453-23T>G)
c.5348-23T>G (n.5348-23T>G)
c.1754-23T>G (n.1754-23T>G)
c.5384-23T>G (n.5384-23T>G)
c.5930-23T>G (n.5930-23T>G)
n.333+3997A>C
c.5300-23T>G (n.5300-23T>G)
c.4745-23T>G (n.4745-23T>G)
c.2855-23T>G (n.2855-23T>G)
c.5999-23T>G (n.5999-23T>G)
c.6503-23T>G (n.6503-23T>G)
c.6398-23T>G (n.6398-23T>G)
c.6185-23T>G (n.6185-23T>G)
c.6128-23T>G (n.6128-23T>G)
c.6044-23T>G (n.6044-23T>G)
c.6029-23T>G (n.6029-23T>G)
c.5933-23T>G (n.5933-23T>G)
c.5924-23T>G (n.5924-23T>G)
c.5906-23T>G (n.5906-23T>G)
c.5900-23T>G (n.5900-23T>G)
c.5873-23T>G (n.5873-23T>G)
c.5867-23T>G (n.5867-23T>G)
c.5849-23T>G (n.5849-23T>G)
c.5843-23T>G (n.5843-23T>G)
c.5840-23T>G (n.5840-23T>G)
c.5816-23T>G (n.5816-23T>G)
 gnomAD v4
12g.2686144G>ACA6389949CACNA1C,CACNA1C-AS1c.5756-22G>A (n.5756-22G>A)
c.5786-22G>A (n.5786-22G>A)
c.5861-22G>A (n.5861-22G>A)
c.5894-22G>A (n.5894-22G>A)
c.5723-22G>A (n.5723-22G>A)
c.5771-22G>A (n.5771-22G>A)
c.6020-22G>A (n.6020-22G>A)
c.5648-22G>A (n.5648-22G>A)
c.5681-22G>A (n.5681-22G>A)
c.5672-22G>A (n.5672-22G>A)
c.5846-22G>A (n.5846-22G>A)
n.806-22G>A
n.2184-22G>A
n.811-22G>A
c.5825-22G>A (n.5825-22G>A)
c.5804-22G>A (n.5804-22G>A)
c.5705-22G>A (n.5705-22G>A)
c.5741-22G>A (n.5741-22G>A)
c.5738-22G>A (n.5738-22G>A)
c.5732-22G>A (n.5732-22G>A)
c.5765-22G>A (n.5765-22G>A)
c.5699-22G>A (n.5699-22G>A)
c.5309-22G>A (n.5309-22G>A)
c.5453-22G>A (n.5453-22G>A)
c.5348-22G>A (n.5348-22G>A)
c.1754-22G>A (n.1754-22G>A)
c.5384-22G>A (n.5384-22G>A)
c.5930-22G>A (n.5930-22G>A)
n.333+3996C>T
c.5300-22G>A (n.5300-22G>A)
c.4745-22G>A (n.4745-22G>A)
c.2855-22G>A (n.2855-22G>A)
c.5999-22G>A (n.5999-22G>A)
c.6503-22G>A (n.6503-22G>A)
c.6398-22G>A (n.6398-22G>A)
c.6185-22G>A (n.6185-22G>A)
c.6128-22G>A (n.6128-22G>A)
c.6044-22G>A (n.6044-22G>A)
c.6029-22G>A (n.6029-22G>A)
c.5933-22G>A (n.5933-22G>A)
c.5924-22G>A (n.5924-22G>A)
c.5906-22G>A (n.5906-22G>A)
c.5900-22G>A (n.5900-22G>A)
c.5873-22G>A (n.5873-22G>A)
c.5867-22G>A (n.5867-22G>A)
c.5849-22G>A (n.5849-22G>A)
c.5843-22G>A (n.5843-22G>A)
c.5840-22G>A (n.5840-22G>A)
c.5816-22G>A (n.5816-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686144G=CA2012350947CACNA1C,CACNA1C-AS1c.5756-22G= (n.5756-22G=)
c.5786-22G= (n.5786-22G=)
c.5861-22G= (n.5861-22G=)
c.5894-22G= (n.5894-22G=)
c.5723-22G= (n.5723-22G=)
c.5771-22G= (n.5771-22G=)
c.6020-22G= (n.6020-22G=)
c.5648-22G= (n.5648-22G=)
c.5681-22G= (n.5681-22G=)
c.5672-22G= (n.5672-22G=)
c.5846-22G= (n.5846-22G=)
n.806-22G=
n.2184-22G=
n.811-22G=
c.5825-22G= (n.5825-22G=)
c.5804-22G= (n.5804-22G=)
c.5705-22G= (n.5705-22G=)
c.5741-22G= (n.5741-22G=)
c.5738-22G= (n.5738-22G=)
c.5732-22G= (n.5732-22G=)
c.5765-22G= (n.5765-22G=)
c.5699-22G= (n.5699-22G=)
c.5309-22G= (n.5309-22G=)
c.5453-22G= (n.5453-22G=)
c.5348-22G= (n.5348-22G=)
c.1754-22G= (n.1754-22G=)
c.5384-22G= (n.5384-22G=)
c.5930-22G= (n.5930-22G=)
n.333+3996C=
c.5300-22G= (n.5300-22G=)
c.4745-22G= (n.4745-22G=)
c.2855-22G= (n.2855-22G=)
c.5999-22G= (n.5999-22G=)
c.6503-22G= (n.6503-22G=)
c.6398-22G= (n.6398-22G=)
c.6185-22G= (n.6185-22G=)
c.6128-22G= (n.6128-22G=)
c.6044-22G= (n.6044-22G=)
c.6029-22G= (n.6029-22G=)
c.5933-22G= (n.5933-22G=)
c.5924-22G= (n.5924-22G=)
c.5906-22G= (n.5906-22G=)
c.5900-22G= (n.5900-22G=)
c.5873-22G= (n.5873-22G=)
c.5867-22G= (n.5867-22G=)
c.5849-22G= (n.5849-22G=)
c.5843-22G= (n.5843-22G=)
c.5840-22G= (n.5840-22G=)
c.5816-22G= (n.5816-22G=)
12g.2686145delCA2575046106CACNA1C,CACNA1C-AS1c.5756-21del (n.5756-21del)
c.5786-21del (n.5786-21del)
c.5861-21del (n.5861-21del)
c.5894-21del (n.5894-21del)
c.5723-21del (n.5723-21del)
c.5771-21del (n.5771-21del)
c.6020-21del (n.6020-21del)
c.5648-21del (n.5648-21del)
c.5681-21del (n.5681-21del)
c.5672-21del (n.5672-21del)
c.5846-21del (n.5846-21del)
n.806-21del
n.2184-21del
n.811-21del
c.5825-21del (n.5825-21del)
c.5804-21del (n.5804-21del)
c.5705-21del (n.5705-21del)
c.5741-21del (n.5741-21del)
c.5738-21del (n.5738-21del)
c.5732-21del (n.5732-21del)
c.5765-21del (n.5765-21del)
c.5699-21del (n.5699-21del)
c.5309-21del (n.5309-21del)
c.5453-21del (n.5453-21del)
c.5348-21del (n.5348-21del)
c.1754-21del (n.1754-21del)
c.5384-21del (n.5384-21del)
c.5930-21del (n.5930-21del)
n.333+3996del
c.5300-21del (n.5300-21del)
c.4745-21del (n.4745-21del)
c.2855-21del (n.2855-21del)
c.5999-21del (n.5999-21del)
c.6503-21del (n.6503-21del)
c.6398-21del (n.6398-21del)
c.6185-21del (n.6185-21del)
c.6128-21del (n.6128-21del)
c.6044-21del (n.6044-21del)
c.6029-21del (n.6029-21del)
c.5933-21del (n.5933-21del)
c.5924-21del (n.5924-21del)
c.5906-21del (n.5906-21del)
c.5900-21del (n.5900-21del)
c.5873-21del (n.5873-21del)
c.5867-21del (n.5867-21del)
c.5849-21del (n.5849-21del)
c.5843-21del (n.5843-21del)
c.5840-21del (n.5840-21del)
c.5816-21del (n.5816-21del)
12g.2686145G>ACA2617072136CACNA1C,CACNA1C-AS1c.5756-21G>A (n.5756-21G>A)
c.5786-21G>A (n.5786-21G>A)
c.5861-21G>A (n.5861-21G>A)
c.5894-21G>A (n.5894-21G>A)
c.5723-21G>A (n.5723-21G>A)
c.5771-21G>A (n.5771-21G>A)
c.6020-21G>A (n.6020-21G>A)
c.5648-21G>A (n.5648-21G>A)
c.5681-21G>A (n.5681-21G>A)
c.5672-21G>A (n.5672-21G>A)
c.5846-21G>A (n.5846-21G>A)
n.806-21G>A
n.2184-21G>A
n.811-21G>A
c.5825-21G>A (n.5825-21G>A)
c.5804-21G>A (n.5804-21G>A)
c.5705-21G>A (n.5705-21G>A)
c.5741-21G>A (n.5741-21G>A)
c.5738-21G>A (n.5738-21G>A)
c.5732-21G>A (n.5732-21G>A)
c.5765-21G>A (n.5765-21G>A)
c.5699-21G>A (n.5699-21G>A)
c.5309-21G>A (n.5309-21G>A)
c.5453-21G>A (n.5453-21G>A)
c.5348-21G>A (n.5348-21G>A)
c.1754-21G>A (n.1754-21G>A)
c.5384-21G>A (n.5384-21G>A)
c.5930-21G>A (n.5930-21G>A)
n.333+3995C>T
c.5300-21G>A (n.5300-21G>A)
c.4745-21G>A (n.4745-21G>A)
c.2855-21G>A (n.2855-21G>A)
c.5999-21G>A (n.5999-21G>A)
c.6503-21G>A (n.6503-21G>A)
c.6398-21G>A (n.6398-21G>A)
c.6185-21G>A (n.6185-21G>A)
c.6128-21G>A (n.6128-21G>A)
c.6044-21G>A (n.6044-21G>A)
c.6029-21G>A (n.6029-21G>A)
c.5933-21G>A (n.5933-21G>A)
c.5924-21G>A (n.5924-21G>A)
c.5906-21G>A (n.5906-21G>A)
c.5900-21G>A (n.5900-21G>A)
c.5873-21G>A (n.5873-21G>A)
c.5867-21G>A (n.5867-21G>A)
c.5849-21G>A (n.5849-21G>A)
c.5843-21G>A (n.5843-21G>A)
c.5840-21G>A (n.5840-21G>A)
c.5816-21G>A (n.5816-21G>A)
 gnomAD v4
12g.2686145G>CCA2590613433CACNA1C,CACNA1C-AS1c.5756-21G>C (n.5756-21G>C)
c.5786-21G>C (n.5786-21G>C)
c.5861-21G>C (n.5861-21G>C)
c.5894-21G>C (n.5894-21G>C)
c.5723-21G>C (n.5723-21G>C)
c.5771-21G>C (n.5771-21G>C)
c.6020-21G>C (n.6020-21G>C)
c.5648-21G>C (n.5648-21G>C)
c.5681-21G>C (n.5681-21G>C)
c.5672-21G>C (n.5672-21G>C)
c.5846-21G>C (n.5846-21G>C)
n.806-21G>C
n.2184-21G>C
n.811-21G>C
c.5825-21G>C (n.5825-21G>C)
c.5804-21G>C (n.5804-21G>C)
c.5705-21G>C (n.5705-21G>C)
c.5741-21G>C (n.5741-21G>C)
c.5738-21G>C (n.5738-21G>C)
c.5732-21G>C (n.5732-21G>C)
c.5765-21G>C (n.5765-21G>C)
c.5699-21G>C (n.5699-21G>C)
c.5309-21G>C (n.5309-21G>C)
c.5453-21G>C (n.5453-21G>C)
c.5348-21G>C (n.5348-21G>C)
c.1754-21G>C (n.1754-21G>C)
c.5384-21G>C (n.5384-21G>C)
c.5930-21G>C (n.5930-21G>C)
n.333+3995C>G
c.5300-21G>C (n.5300-21G>C)
c.4745-21G>C (n.4745-21G>C)
c.2855-21G>C (n.2855-21G>C)
c.5999-21G>C (n.5999-21G>C)
c.6503-21G>C (n.6503-21G>C)
c.6398-21G>C (n.6398-21G>C)
c.6185-21G>C (n.6185-21G>C)
c.6128-21G>C (n.6128-21G>C)
c.6044-21G>C (n.6044-21G>C)
c.6029-21G>C (n.6029-21G>C)
c.5933-21G>C (n.5933-21G>C)
c.5924-21G>C (n.5924-21G>C)
c.5906-21G>C (n.5906-21G>C)
c.5900-21G>C (n.5900-21G>C)
c.5873-21G>C (n.5873-21G>C)
c.5867-21G>C (n.5867-21G>C)
c.5849-21G>C (n.5849-21G>C)
c.5843-21G>C (n.5843-21G>C)
c.5840-21G>C (n.5840-21G>C)
c.5816-21G>C (n.5816-21G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.2686146C>ACA2617072140CACNA1C,CACNA1C-AS1c.5756-20C>A (n.5756-20C>A)
c.5786-20C>A (n.5786-20C>A)
c.5861-20C>A (n.5861-20C>A)
c.5894-20C>A (n.5894-20C>A)
c.5723-20C>A (n.5723-20C>A)
c.5771-20C>A (n.5771-20C>A)
c.6020-20C>A (n.6020-20C>A)
c.5648-20C>A (n.5648-20C>A)
c.5681-20C>A (n.5681-20C>A)
c.5672-20C>A (n.5672-20C>A)
c.5846-20C>A (n.5846-20C>A)
n.806-20C>A
n.2184-20C>A
n.811-20C>A
c.5825-20C>A (n.5825-20C>A)
c.5804-20C>A (n.5804-20C>A)
c.5705-20C>A (n.5705-20C>A)
c.5741-20C>A (n.5741-20C>A)
c.5738-20C>A (n.5738-20C>A)
c.5732-20C>A (n.5732-20C>A)
c.5765-20C>A (n.5765-20C>A)
c.5699-20C>A (n.5699-20C>A)
c.5309-20C>A (n.5309-20C>A)
c.5453-20C>A (n.5453-20C>A)
c.5348-20C>A (n.5348-20C>A)
c.1754-20C>A (n.1754-20C>A)
c.5384-20C>A (n.5384-20C>A)
c.5930-20C>A (n.5930-20C>A)
n.333+3994G>T
c.5300-20C>A (n.5300-20C>A)
c.4745-20C>A (n.4745-20C>A)
c.2855-20C>A (n.2855-20C>A)
c.5999-20C>A (n.5999-20C>A)
c.6503-20C>A (n.6503-20C>A)
c.6398-20C>A (n.6398-20C>A)
c.6185-20C>A (n.6185-20C>A)
c.6128-20C>A (n.6128-20C>A)
c.6044-20C>A (n.6044-20C>A)
c.6029-20C>A (n.6029-20C>A)
c.5933-20C>A (n.5933-20C>A)
c.5924-20C>A (n.5924-20C>A)
c.5906-20C>A (n.5906-20C>A)
c.5900-20C>A (n.5900-20C>A)
c.5873-20C>A (n.5873-20C>A)
c.5867-20C>A (n.5867-20C>A)
c.5849-20C>A (n.5849-20C>A)
c.5843-20C>A (n.5843-20C>A)
c.5840-20C>A (n.5840-20C>A)
c.5816-20C>A (n.5816-20C>A)
 gnomAD v4
12g.2686146C=CA2012350948CACNA1C,CACNA1C-AS1c.5756-20C= (n.5756-20C=)
c.5786-20C= (n.5786-20C=)
c.5861-20C= (n.5861-20C=)
c.5894-20C= (n.5894-20C=)
c.5723-20C= (n.5723-20C=)
c.5771-20C= (n.5771-20C=)
c.6020-20C= (n.6020-20C=)
c.5648-20C= (n.5648-20C=)
c.5681-20C= (n.5681-20C=)
c.5672-20C= (n.5672-20C=)
c.5846-20C= (n.5846-20C=)
n.806-20C=
n.2184-20C=
n.811-20C=
c.5825-20C= (n.5825-20C=)
c.5804-20C= (n.5804-20C=)
c.5705-20C= (n.5705-20C=)
c.5741-20C= (n.5741-20C=)
c.5738-20C= (n.5738-20C=)
c.5732-20C= (n.5732-20C=)
c.5765-20C= (n.5765-20C=)
c.5699-20C= (n.5699-20C=)
c.5309-20C= (n.5309-20C=)
c.5453-20C= (n.5453-20C=)
c.5348-20C= (n.5348-20C=)
c.1754-20C= (n.1754-20C=)
c.5384-20C= (n.5384-20C=)
c.5930-20C= (n.5930-20C=)
n.333+3994G=
c.5300-20C= (n.5300-20C=)
c.4745-20C= (n.4745-20C=)
c.2855-20C= (n.2855-20C=)
c.5999-20C= (n.5999-20C=)
c.6503-20C= (n.6503-20C=)
c.6398-20C= (n.6398-20C=)
c.6185-20C= (n.6185-20C=)
c.6128-20C= (n.6128-20C=)
c.6044-20C= (n.6044-20C=)
c.6029-20C= (n.6029-20C=)
c.5933-20C= (n.5933-20C=)
c.5924-20C= (n.5924-20C=)
c.5906-20C= (n.5906-20C=)
c.5900-20C= (n.5900-20C=)
c.5873-20C= (n.5873-20C=)
c.5867-20C= (n.5867-20C=)
c.5849-20C= (n.5849-20C=)
c.5843-20C= (n.5843-20C=)
c.5840-20C= (n.5840-20C=)
c.5816-20C= (n.5816-20C=)
12g.2686146C>TCA231615945CACNA1C,CACNA1C-AS1c.5756-20C>T (n.5756-20C>T)
c.5786-20C>T (n.5786-20C>T)
c.5861-20C>T (n.5861-20C>T)
c.5894-20C>T (n.5894-20C>T)
c.5723-20C>T (n.5723-20C>T)
c.5771-20C>T (n.5771-20C>T)
c.6020-20C>T (n.6020-20C>T)
c.5648-20C>T (n.5648-20C>T)
c.5681-20C>T (n.5681-20C>T)
c.5672-20C>T (n.5672-20C>T)
c.5846-20C>T (n.5846-20C>T)
n.806-20C>T
n.2184-20C>T
n.811-20C>T
c.5825-20C>T (n.5825-20C>T)
c.5804-20C>T (n.5804-20C>T)
c.5705-20C>T (n.5705-20C>T)
c.5741-20C>T (n.5741-20C>T)
c.5738-20C>T (n.5738-20C>T)
c.5732-20C>T (n.5732-20C>T)
c.5765-20C>T (n.5765-20C>T)
c.5699-20C>T (n.5699-20C>T)
c.5309-20C>T (n.5309-20C>T)
c.5453-20C>T (n.5453-20C>T)
c.5348-20C>T (n.5348-20C>T)
c.1754-20C>T (n.1754-20C>T)
c.5384-20C>T (n.5384-20C>T)
c.5930-20C>T (n.5930-20C>T)
n.333+3994G>A
c.5300-20C>T (n.5300-20C>T)
c.4745-20C>T (n.4745-20C>T)
c.2855-20C>T (n.2855-20C>T)
c.5999-20C>T (n.5999-20C>T)
c.6503-20C>T (n.6503-20C>T)
c.6398-20C>T (n.6398-20C>T)
c.6185-20C>T (n.6185-20C>T)
c.6128-20C>T (n.6128-20C>T)
c.6044-20C>T (n.6044-20C>T)
c.6029-20C>T (n.6029-20C>T)
c.5933-20C>T (n.5933-20C>T)
c.5924-20C>T (n.5924-20C>T)
c.5906-20C>T (n.5906-20C>T)
c.5900-20C>T (n.5900-20C>T)
c.5873-20C>T (n.5873-20C>T)
c.5867-20C>T (n.5867-20C>T)
c.5849-20C>T (n.5849-20C>T)
c.5843-20C>T (n.5843-20C>T)
c.5840-20C>T (n.5840-20C>T)
c.5816-20C>T (n.5816-20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686148C>ACA2617072142CACNA1C,CACNA1C-AS1c.5756-18C>A (n.5756-18C>A)
c.5786-18C>A (n.5786-18C>A)
c.5861-18C>A (n.5861-18C>A)
c.5894-18C>A (n.5894-18C>A)
c.5723-18C>A (n.5723-18C>A)
c.5771-18C>A (n.5771-18C>A)
c.6020-18C>A (n.6020-18C>A)
c.5648-18C>A (n.5648-18C>A)
c.5681-18C>A (n.5681-18C>A)
c.5672-18C>A (n.5672-18C>A)
c.5846-18C>A (n.5846-18C>A)
n.806-18C>A
n.2184-18C>A
n.811-18C>A
c.5825-18C>A (n.5825-18C>A)
c.5804-18C>A (n.5804-18C>A)
c.5705-18C>A (n.5705-18C>A)
c.5741-18C>A (n.5741-18C>A)
c.5738-18C>A (n.5738-18C>A)
c.5732-18C>A (n.5732-18C>A)
c.5765-18C>A (n.5765-18C>A)
c.5699-18C>A (n.5699-18C>A)
c.5309-18C>A (n.5309-18C>A)
c.5453-18C>A (n.5453-18C>A)
c.5348-18C>A (n.5348-18C>A)
c.1754-18C>A (n.1754-18C>A)
c.5384-18C>A (n.5384-18C>A)
c.5930-18C>A (n.5930-18C>A)
n.333+3992G>T
c.5300-18C>A (n.5300-18C>A)
c.4745-18C>A (n.4745-18C>A)
c.2855-18C>A (n.2855-18C>A)
c.5999-18C>A (n.5999-18C>A)
c.6503-18C>A (n.6503-18C>A)
c.6398-18C>A (n.6398-18C>A)
c.6185-18C>A (n.6185-18C>A)
c.6128-18C>A (n.6128-18C>A)
c.6044-18C>A (n.6044-18C>A)
c.6029-18C>A (n.6029-18C>A)
c.5933-18C>A (n.5933-18C>A)
c.5924-18C>A (n.5924-18C>A)
c.5906-18C>A (n.5906-18C>A)
c.5900-18C>A (n.5900-18C>A)
c.5873-18C>A (n.5873-18C>A)
c.5867-18C>A (n.5867-18C>A)
c.5849-18C>A (n.5849-18C>A)
c.5843-18C>A (n.5843-18C>A)
c.5840-18C>A (n.5840-18C>A)
c.5816-18C>A (n.5816-18C>A)
 gnomAD v4
12g.2686148C=CA2012350949CACNA1C,CACNA1C-AS1c.5756-18C= (n.5756-18C=)
c.5786-18C= (n.5786-18C=)
c.5861-18C= (n.5861-18C=)
c.5894-18C= (n.5894-18C=)
c.5723-18C= (n.5723-18C=)
c.5771-18C= (n.5771-18C=)
c.6020-18C= (n.6020-18C=)
c.5648-18C= (n.5648-18C=)
c.5681-18C= (n.5681-18C=)
c.5672-18C= (n.5672-18C=)
c.5846-18C= (n.5846-18C=)
n.806-18C=
n.2184-18C=
n.811-18C=
c.5825-18C= (n.5825-18C=)
c.5804-18C= (n.5804-18C=)
c.5705-18C= (n.5705-18C=)
c.5741-18C= (n.5741-18C=)
c.5738-18C= (n.5738-18C=)
c.5732-18C= (n.5732-18C=)
c.5765-18C= (n.5765-18C=)
c.5699-18C= (n.5699-18C=)
c.5309-18C= (n.5309-18C=)
c.5453-18C= (n.5453-18C=)
c.5348-18C= (n.5348-18C=)
c.1754-18C= (n.1754-18C=)
c.5384-18C= (n.5384-18C=)
c.5930-18C= (n.5930-18C=)
n.333+3992G=
c.5300-18C= (n.5300-18C=)
c.4745-18C= (n.4745-18C=)
c.2855-18C= (n.2855-18C=)
c.5999-18C= (n.5999-18C=)
c.6503-18C= (n.6503-18C=)
c.6398-18C= (n.6398-18C=)
c.6185-18C= (n.6185-18C=)
c.6128-18C= (n.6128-18C=)
c.6044-18C= (n.6044-18C=)
c.6029-18C= (n.6029-18C=)
c.5933-18C= (n.5933-18C=)
c.5924-18C= (n.5924-18C=)
c.5906-18C= (n.5906-18C=)
c.5900-18C= (n.5900-18C=)
c.5873-18C= (n.5873-18C=)
c.5867-18C= (n.5867-18C=)
c.5849-18C= (n.5849-18C=)
c.5843-18C= (n.5843-18C=)
c.5840-18C= (n.5840-18C=)
c.5816-18C= (n.5816-18C=)
12g.2686148C>GCA231615950CACNA1C,CACNA1C-AS1c.5756-18C>G (n.5756-18C>G)
c.5786-18C>G (n.5786-18C>G)
c.5861-18C>G (n.5861-18C>G)
c.5894-18C>G (n.5894-18C>G)
c.5723-18C>G (n.5723-18C>G)
c.5771-18C>G (n.5771-18C>G)
c.6020-18C>G (n.6020-18C>G)
c.5648-18C>G (n.5648-18C>G)
c.5681-18C>G (n.5681-18C>G)
c.5672-18C>G (n.5672-18C>G)
c.5846-18C>G (n.5846-18C>G)
n.806-18C>G
n.2184-18C>G
n.811-18C>G
c.5825-18C>G (n.5825-18C>G)
c.5804-18C>G (n.5804-18C>G)
c.5705-18C>G (n.5705-18C>G)
c.5741-18C>G (n.5741-18C>G)
c.5738-18C>G (n.5738-18C>G)
c.5732-18C>G (n.5732-18C>G)
c.5765-18C>G (n.5765-18C>G)
c.5699-18C>G (n.5699-18C>G)
c.5309-18C>G (n.5309-18C>G)
c.5453-18C>G (n.5453-18C>G)
c.5348-18C>G (n.5348-18C>G)
c.1754-18C>G (n.1754-18C>G)
c.5384-18C>G (n.5384-18C>G)
c.5930-18C>G (n.5930-18C>G)
n.333+3992G>C
c.5300-18C>G (n.5300-18C>G)
c.4745-18C>G (n.4745-18C>G)
c.2855-18C>G (n.2855-18C>G)
c.5999-18C>G (n.5999-18C>G)
c.6503-18C>G (n.6503-18C>G)
c.6398-18C>G (n.6398-18C>G)
c.6185-18C>G (n.6185-18C>G)
c.6128-18C>G (n.6128-18C>G)
c.6044-18C>G (n.6044-18C>G)
c.6029-18C>G (n.6029-18C>G)
c.5933-18C>G (n.5933-18C>G)
c.5924-18C>G (n.5924-18C>G)
c.5906-18C>G (n.5906-18C>G)
c.5900-18C>G (n.5900-18C>G)
c.5873-18C>G (n.5873-18C>G)
c.5867-18C>G (n.5867-18C>G)
c.5849-18C>G (n.5849-18C>G)
c.5843-18C>G (n.5843-18C>G)
c.5840-18C>G (n.5840-18C>G)
c.5816-18C>G (n.5816-18C>G)
 dbSNP
12g.2686151T>CCA686844492CACNA1C,CACNA1C-AS1c.5756-15T>C (n.5756-15T>C)
c.5786-15T>C (n.5786-15T>C)
c.5861-15T>C (n.5861-15T>C)
c.5894-15T>C (n.5894-15T>C)
c.5723-15T>C (n.5723-15T>C)
c.5771-15T>C (n.5771-15T>C)
c.6020-15T>C (n.6020-15T>C)
c.5648-15T>C (n.5648-15T>C)
c.5681-15T>C (n.5681-15T>C)
c.5672-15T>C (n.5672-15T>C)
c.5846-15T>C (n.5846-15T>C)
n.806-15T>C
n.2184-15T>C
n.811-15T>C
c.5825-15T>C (n.5825-15T>C)
c.5804-15T>C (n.5804-15T>C)
c.5705-15T>C (n.5705-15T>C)
c.5741-15T>C (n.5741-15T>C)
c.5738-15T>C (n.5738-15T>C)
c.5732-15T>C (n.5732-15T>C)
c.5765-15T>C (n.5765-15T>C)
c.5699-15T>C (n.5699-15T>C)
c.5309-15T>C (n.5309-15T>C)
c.5453-15T>C (n.5453-15T>C)
c.5348-15T>C (n.5348-15T>C)
c.1754-15T>C (n.1754-15T>C)
c.5384-15T>C (n.5384-15T>C)
c.5930-15T>C (n.5930-15T>C)
n.333+3989A>G
c.5300-15T>C (n.5300-15T>C)
c.4745-15T>C (n.4745-15T>C)
c.2855-15T>C (n.2855-15T>C)
c.5999-15T>C (n.5999-15T>C)
c.6503-15T>C (n.6503-15T>C)
c.6398-15T>C (n.6398-15T>C)
c.6185-15T>C (n.6185-15T>C)
c.6128-15T>C (n.6128-15T>C)
c.6044-15T>C (n.6044-15T>C)
c.6029-15T>C (n.6029-15T>C)
c.5933-15T>C (n.5933-15T>C)
c.5924-15T>C (n.5924-15T>C)
c.5906-15T>C (n.5906-15T>C)
c.5900-15T>C (n.5900-15T>C)
c.5873-15T>C (n.5873-15T>C)
c.5867-15T>C (n.5867-15T>C)
c.5849-15T>C (n.5849-15T>C)
c.5843-15T>C (n.5843-15T>C)
c.5840-15T>C (n.5840-15T>C)
c.5816-15T>C (n.5816-15T>C)
 ClinVar dbSNP
12g.2686151T=CA2012350950CACNA1C,CACNA1C-AS1c.5756-15T= (n.5756-15T=)
c.5786-15T= (n.5786-15T=)
c.5861-15T= (n.5861-15T=)
c.5894-15T= (n.5894-15T=)
c.5723-15T= (n.5723-15T=)
c.5771-15T= (n.5771-15T=)
c.6020-15T= (n.6020-15T=)
c.5648-15T= (n.5648-15T=)
c.5681-15T= (n.5681-15T=)
c.5672-15T= (n.5672-15T=)
c.5846-15T= (n.5846-15T=)
n.806-15T=
n.2184-15T=
n.811-15T=
c.5825-15T= (n.5825-15T=)
c.5804-15T= (n.5804-15T=)
c.5705-15T= (n.5705-15T=)
c.5741-15T= (n.5741-15T=)
c.5738-15T= (n.5738-15T=)
c.5732-15T= (n.5732-15T=)
c.5765-15T= (n.5765-15T=)
c.5699-15T= (n.5699-15T=)
c.5309-15T= (n.5309-15T=)
c.5453-15T= (n.5453-15T=)
c.5348-15T= (n.5348-15T=)
c.1754-15T= (n.1754-15T=)
c.5384-15T= (n.5384-15T=)
c.5930-15T= (n.5930-15T=)
n.333+3989A=
c.5300-15T= (n.5300-15T=)
c.4745-15T= (n.4745-15T=)
c.2855-15T= (n.2855-15T=)
c.5999-15T= (n.5999-15T=)
c.6503-15T= (n.6503-15T=)
c.6398-15T= (n.6398-15T=)
c.6185-15T= (n.6185-15T=)
c.6128-15T= (n.6128-15T=)
c.6044-15T= (n.6044-15T=)
c.6029-15T= (n.6029-15T=)
c.5933-15T= (n.5933-15T=)
c.5924-15T= (n.5924-15T=)
c.5906-15T= (n.5906-15T=)
c.5900-15T= (n.5900-15T=)
c.5873-15T= (n.5873-15T=)
c.5867-15T= (n.5867-15T=)
c.5849-15T= (n.5849-15T=)
c.5843-15T= (n.5843-15T=)
c.5840-15T= (n.5840-15T=)
c.5816-15T= (n.5816-15T=)
12g.2686153delCA2575046107CACNA1C,CACNA1C-AS1c.5756-13del (n.5756-13del)
c.5786-13del (n.5786-13del)
c.5861-13del (n.5861-13del)
c.5894-13del (n.5894-13del)
c.5723-13del (n.5723-13del)
c.5771-13del (n.5771-13del)
c.6020-13del (n.6020-13del)
c.5648-13del (n.5648-13del)
c.5681-13del (n.5681-13del)
c.5672-13del (n.5672-13del)
c.5846-13del (n.5846-13del)
n.806-13del
n.2184-13del
n.811-13del
c.5825-13del (n.5825-13del)
c.5804-13del (n.5804-13del)
c.5705-13del (n.5705-13del)
c.5741-13del (n.5741-13del)
c.5738-13del (n.5738-13del)
c.5732-13del (n.5732-13del)
c.5765-13del (n.5765-13del)
c.5699-13del (n.5699-13del)
c.5309-13del (n.5309-13del)
c.5453-13del (n.5453-13del)
c.5348-13del (n.5348-13del)
c.1754-13del (n.1754-13del)
c.5384-13del (n.5384-13del)
c.5930-13del (n.5930-13del)
n.333+3988del
c.5300-13del (n.5300-13del)
c.4745-13del (n.4745-13del)
c.2855-13del (n.2855-13del)
c.5999-13del (n.5999-13del)
c.6503-13del (n.6503-13del)
c.6398-13del (n.6398-13del)
c.6185-13del (n.6185-13del)
c.6128-13del (n.6128-13del)
c.6044-13del (n.6044-13del)
c.6029-13del (n.6029-13del)
c.5933-13del (n.5933-13del)
c.5924-13del (n.5924-13del)
c.5906-13del (n.5906-13del)
c.5900-13del (n.5900-13del)
c.5873-13del (n.5873-13del)
c.5867-13del (n.5867-13del)
c.5849-13del (n.5849-13del)
c.5843-13del (n.5843-13del)
c.5840-13del (n.5840-13del)
c.5816-13del (n.5816-13del)
12g.2686153G>ACA2617072146CACNA1C,CACNA1C-AS1c.5756-13G>A (n.5756-13G>A)
c.5786-13G>A (n.5786-13G>A)
c.5861-13G>A (n.5861-13G>A)
c.5894-13G>A (n.5894-13G>A)
c.5723-13G>A (n.5723-13G>A)
c.5771-13G>A (n.5771-13G>A)
c.6020-13G>A (n.6020-13G>A)
c.5648-13G>A (n.5648-13G>A)
c.5681-13G>A (n.5681-13G>A)
c.5672-13G>A (n.5672-13G>A)
c.5846-13G>A (n.5846-13G>A)
n.806-13G>A
n.2184-13G>A
n.811-13G>A
c.5825-13G>A (n.5825-13G>A)
c.5804-13G>A (n.5804-13G>A)
c.5705-13G>A (n.5705-13G>A)
c.5741-13G>A (n.5741-13G>A)
c.5738-13G>A (n.5738-13G>A)
c.5732-13G>A (n.5732-13G>A)
c.5765-13G>A (n.5765-13G>A)
c.5699-13G>A (n.5699-13G>A)
c.5309-13G>A (n.5309-13G>A)
c.5453-13G>A (n.5453-13G>A)
c.5348-13G>A (n.5348-13G>A)
c.1754-13G>A (n.1754-13G>A)
c.5384-13G>A (n.5384-13G>A)
c.5930-13G>A (n.5930-13G>A)
n.333+3987C>T
c.5300-13G>A (n.5300-13G>A)
c.4745-13G>A (n.4745-13G>A)
c.2855-13G>A (n.2855-13G>A)
c.5999-13G>A (n.5999-13G>A)
c.6503-13G>A (n.6503-13G>A)
c.6398-13G>A (n.6398-13G>A)
c.6185-13G>A (n.6185-13G>A)
c.6128-13G>A (n.6128-13G>A)
c.6044-13G>A (n.6044-13G>A)
c.6029-13G>A (n.6029-13G>A)
c.5933-13G>A (n.5933-13G>A)
c.5924-13G>A (n.5924-13G>A)
c.5906-13G>A (n.5906-13G>A)
c.5900-13G>A (n.5900-13G>A)
c.5873-13G>A (n.5873-13G>A)
c.5867-13G>A (n.5867-13G>A)
c.5849-13G>A (n.5849-13G>A)
c.5843-13G>A (n.5843-13G>A)
c.5840-13G>A (n.5840-13G>A)
c.5816-13G>A (n.5816-13G>A)
 gnomAD v4
12g.2686154C>ACA2617072193CACNA1C,CACNA1C-AS1c.5756-12C>A (n.5756-12C>A)
c.5786-12C>A (n.5786-12C>A)
c.5861-12C>A (n.5861-12C>A)
c.5894-12C>A (n.5894-12C>A)
c.5723-12C>A (n.5723-12C>A)
c.5771-12C>A (n.5771-12C>A)
c.6020-12C>A (n.6020-12C>A)
c.5648-12C>A (n.5648-12C>A)
c.5681-12C>A (n.5681-12C>A)
c.5672-12C>A (n.5672-12C>A)
c.5846-12C>A (n.5846-12C>A)
n.806-12C>A
n.2184-12C>A
n.811-12C>A
c.5825-12C>A (n.5825-12C>A)
c.5804-12C>A (n.5804-12C>A)
c.5705-12C>A (n.5705-12C>A)
c.5741-12C>A (n.5741-12C>A)
c.5738-12C>A (n.5738-12C>A)
c.5732-12C>A (n.5732-12C>A)
c.5765-12C>A (n.5765-12C>A)
c.5699-12C>A (n.5699-12C>A)
c.5309-12C>A (n.5309-12C>A)
c.5453-12C>A (n.5453-12C>A)
c.5348-12C>A (n.5348-12C>A)
c.1754-12C>A (n.1754-12C>A)
c.5384-12C>A (n.5384-12C>A)
c.5930-12C>A (n.5930-12C>A)
n.333+3986G>T
c.5300-12C>A (n.5300-12C>A)
c.4745-12C>A (n.4745-12C>A)
c.2855-12C>A (n.2855-12C>A)
c.5999-12C>A (n.5999-12C>A)
c.6503-12C>A (n.6503-12C>A)
c.6398-12C>A (n.6398-12C>A)
c.6185-12C>A (n.6185-12C>A)
c.6128-12C>A (n.6128-12C>A)
c.6044-12C>A (n.6044-12C>A)
c.6029-12C>A (n.6029-12C>A)
c.5933-12C>A (n.5933-12C>A)
c.5924-12C>A (n.5924-12C>A)
c.5906-12C>A (n.5906-12C>A)
c.5900-12C>A (n.5900-12C>A)
c.5873-12C>A (n.5873-12C>A)
c.5867-12C>A (n.5867-12C>A)
c.5849-12C>A (n.5849-12C>A)
c.5843-12C>A (n.5843-12C>A)
c.5840-12C>A (n.5840-12C>A)
c.5816-12C>A (n.5816-12C>A)
 gnomAD v4
12g.2686156G>TCA2575046109CACNA1C,CACNA1C-AS1c.5756-10G>T (n.5756-10G>T)
c.5786-10G>T (n.5786-10G>T)
c.5861-10G>T (n.5861-10G>T)
c.5894-10G>T (n.5894-10G>T)
c.5723-10G>T (n.5723-10G>T)
c.5771-10G>T (n.5771-10G>T)
c.6020-10G>T (n.6020-10G>T)
c.5648-10G>T (n.5648-10G>T)
c.5681-10G>T (n.5681-10G>T)
c.5672-10G>T (n.5672-10G>T)
c.5846-10G>T (n.5846-10G>T)
n.806-10G>T
n.2184-10G>T
n.811-10G>T
c.5825-10G>T (n.5825-10G>T)
c.5804-10G>T (n.5804-10G>T)
c.5705-10G>T (n.5705-10G>T)
c.5741-10G>T (n.5741-10G>T)
c.5738-10G>T (n.5738-10G>T)
c.5732-10G>T (n.5732-10G>T)
c.5765-10G>T (n.5765-10G>T)
c.5699-10G>T (n.5699-10G>T)
c.5309-10G>T (n.5309-10G>T)
c.5453-10G>T (n.5453-10G>T)
c.5348-10G>T (n.5348-10G>T)
c.1754-10G>T (n.1754-10G>T)
c.5384-10G>T (n.5384-10G>T)
c.5930-10G>T (n.5930-10G>T)
n.333+3984C>A
c.5300-10G>T (n.5300-10G>T)
c.4745-10G>T (n.4745-10G>T)
c.2855-10G>T (n.2855-10G>T)
c.5999-10G>T (n.5999-10G>T)
c.6503-10G>T (n.6503-10G>T)
c.6398-10G>T (n.6398-10G>T)
c.6185-10G>T (n.6185-10G>T)
c.6128-10G>T (n.6128-10G>T)
c.6044-10G>T (n.6044-10G>T)
c.6029-10G>T (n.6029-10G>T)
c.5933-10G>T (n.5933-10G>T)
c.5924-10G>T (n.5924-10G>T)
c.5906-10G>T (n.5906-10G>T)
c.5900-10G>T (n.5900-10G>T)
c.5873-10G>T (n.5873-10G>T)
c.5867-10G>T (n.5867-10G>T)
c.5849-10G>T (n.5849-10G>T)
c.5843-10G>T (n.5843-10G>T)
c.5840-10G>T (n.5840-10G>T)
c.5816-10G>T (n.5816-10G>T)
12g.2686157delCA2575046108CACNA1C,CACNA1C-AS1c.5756-9del (n.5756-9del)
c.5786-9del (n.5786-9del)
c.5861-9del (n.5861-9del)
c.5894-9del (n.5894-9del)
c.5723-9del (n.5723-9del)
c.5771-9del (n.5771-9del)
c.6020-9del (n.6020-9del)
c.5648-9del (n.5648-9del)
c.5681-9del (n.5681-9del)
c.5672-9del (n.5672-9del)
c.5846-9del (n.5846-9del)
n.806-9del
n.2184-9del
n.811-9del
c.5825-9del (n.5825-9del)
c.5804-9del (n.5804-9del)
c.5705-9del (n.5705-9del)
c.5741-9del (n.5741-9del)
c.5738-9del (n.5738-9del)
c.5732-9del (n.5732-9del)
c.5765-9del (n.5765-9del)
c.5699-9del (n.5699-9del)
c.5309-9del (n.5309-9del)
c.5453-9del (n.5453-9del)
c.5348-9del (n.5348-9del)
c.1754-9del (n.1754-9del)
c.5384-9del (n.5384-9del)
c.5930-9del (n.5930-9del)
n.333+3984del
c.5300-9del (n.5300-9del)
c.4745-9del (n.4745-9del)
c.2855-9del (n.2855-9del)
c.5999-9del (n.5999-9del)
c.6503-9del (n.6503-9del)
c.6398-9del (n.6398-9del)
c.6185-9del (n.6185-9del)
c.6128-9del (n.6128-9del)
c.6044-9del (n.6044-9del)
c.6029-9del (n.6029-9del)
c.5933-9del (n.5933-9del)
c.5924-9del (n.5924-9del)
c.5906-9del (n.5906-9del)
c.5900-9del (n.5900-9del)
c.5873-9del (n.5873-9del)
c.5867-9del (n.5867-9del)
c.5849-9del (n.5849-9del)
c.5843-9del (n.5843-9del)
c.5840-9del (n.5840-9del)
c.5816-9del (n.5816-9del)
12g.2686157G>ACA2617072230CACNA1C,CACNA1C-AS1c.5756-9G>A (n.5756-9G>A)
c.5786-9G>A (n.5786-9G>A)
c.5861-9G>A (n.5861-9G>A)
c.5894-9G>A (n.5894-9G>A)
c.5723-9G>A (n.5723-9G>A)
c.5771-9G>A (n.5771-9G>A)
c.6020-9G>A (n.6020-9G>A)
c.5648-9G>A (n.5648-9G>A)
c.5681-9G>A (n.5681-9G>A)
c.5672-9G>A (n.5672-9G>A)
c.5846-9G>A (n.5846-9G>A)
n.806-9G>A
n.2184-9G>A
n.811-9G>A
c.5825-9G>A (n.5825-9G>A)
c.5804-9G>A (n.5804-9G>A)
c.5705-9G>A (n.5705-9G>A)
c.5741-9G>A (n.5741-9G>A)
c.5738-9G>A (n.5738-9G>A)
c.5732-9G>A (n.5732-9G>A)
c.5765-9G>A (n.5765-9G>A)
c.5699-9G>A (n.5699-9G>A)
c.5309-9G>A (n.5309-9G>A)
c.5453-9G>A (n.5453-9G>A)
c.5348-9G>A (n.5348-9G>A)
c.1754-9G>A (n.1754-9G>A)
c.5384-9G>A (n.5384-9G>A)
c.5930-9G>A (n.5930-9G>A)
n.333+3983C>T
c.5300-9G>A (n.5300-9G>A)
c.4745-9G>A (n.4745-9G>A)
c.2855-9G>A (n.2855-9G>A)
c.5999-9G>A (n.5999-9G>A)
c.6503-9G>A (n.6503-9G>A)
c.6398-9G>A (n.6398-9G>A)
c.6185-9G>A (n.6185-9G>A)
c.6128-9G>A (n.6128-9G>A)
c.6044-9G>A (n.6044-9G>A)
c.6029-9G>A (n.6029-9G>A)
c.5933-9G>A (n.5933-9G>A)
c.5924-9G>A (n.5924-9G>A)
c.5906-9G>A (n.5906-9G>A)
c.5900-9G>A (n.5900-9G>A)
c.5873-9G>A (n.5873-9G>A)
c.5867-9G>A (n.5867-9G>A)
c.5849-9G>A (n.5849-9G>A)
c.5843-9G>A (n.5843-9G>A)
c.5840-9G>A (n.5840-9G>A)
c.5816-9G>A (n.5816-9G>A)
 gnomAD v4
12g.2686157G>CCA2617072234CACNA1C,CACNA1C-AS1c.5756-9G>C (n.5756-9G>C)
c.5786-9G>C (n.5786-9G>C)
c.5861-9G>C (n.5861-9G>C)
c.5894-9G>C (n.5894-9G>C)
c.5723-9G>C (n.5723-9G>C)
c.5771-9G>C (n.5771-9G>C)
c.6020-9G>C (n.6020-9G>C)
c.5648-9G>C (n.5648-9G>C)
c.5681-9G>C (n.5681-9G>C)
c.5672-9G>C (n.5672-9G>C)
c.5846-9G>C (n.5846-9G>C)
n.806-9G>C
n.2184-9G>C
n.811-9G>C
c.5825-9G>C (n.5825-9G>C)
c.5804-9G>C (n.5804-9G>C)
c.5705-9G>C (n.5705-9G>C)
c.5741-9G>C (n.5741-9G>C)
c.5738-9G>C (n.5738-9G>C)
c.5732-9G>C (n.5732-9G>C)
c.5765-9G>C (n.5765-9G>C)
c.5699-9G>C (n.5699-9G>C)
c.5309-9G>C (n.5309-9G>C)
c.5453-9G>C (n.5453-9G>C)
c.5348-9G>C (n.5348-9G>C)
c.1754-9G>C (n.1754-9G>C)
c.5384-9G>C (n.5384-9G>C)
c.5930-9G>C (n.5930-9G>C)
n.333+3983C>G
c.5300-9G>C (n.5300-9G>C)
c.4745-9G>C (n.4745-9G>C)
c.2855-9G>C (n.2855-9G>C)
c.5999-9G>C (n.5999-9G>C)
c.6503-9G>C (n.6503-9G>C)
c.6398-9G>C (n.6398-9G>C)
c.6185-9G>C (n.6185-9G>C)
c.6128-9G>C (n.6128-9G>C)
c.6044-9G>C (n.6044-9G>C)
c.6029-9G>C (n.6029-9G>C)
c.5933-9G>C (n.5933-9G>C)
c.5924-9G>C (n.5924-9G>C)
c.5906-9G>C (n.5906-9G>C)
c.5900-9G>C (n.5900-9G>C)
c.5873-9G>C (n.5873-9G>C)
c.5867-9G>C (n.5867-9G>C)
c.5849-9G>C (n.5849-9G>C)
c.5843-9G>C (n.5843-9G>C)
c.5840-9G>C (n.5840-9G>C)
c.5816-9G>C (n.5816-9G>C)
 gnomAD v4
12g.2686157G>TCA2617072236CACNA1C,CACNA1C-AS1c.5756-9G>T (n.5756-9G>T)
c.5786-9G>T (n.5786-9G>T)
c.5861-9G>T (n.5861-9G>T)
c.5894-9G>T (n.5894-9G>T)
c.5723-9G>T (n.5723-9G>T)
c.5771-9G>T (n.5771-9G>T)
c.6020-9G>T (n.6020-9G>T)
c.5648-9G>T (n.5648-9G>T)
c.5681-9G>T (n.5681-9G>T)
c.5672-9G>T (n.5672-9G>T)
c.5846-9G>T (n.5846-9G>T)
n.806-9G>T
n.2184-9G>T
n.811-9G>T
c.5825-9G>T (n.5825-9G>T)
c.5804-9G>T (n.5804-9G>T)
c.5705-9G>T (n.5705-9G>T)
c.5741-9G>T (n.5741-9G>T)
c.5738-9G>T (n.5738-9G>T)
c.5732-9G>T (n.5732-9G>T)
c.5765-9G>T (n.5765-9G>T)
c.5699-9G>T (n.5699-9G>T)
c.5309-9G>T (n.5309-9G>T)
c.5453-9G>T (n.5453-9G>T)
c.5348-9G>T (n.5348-9G>T)
c.1754-9G>T (n.1754-9G>T)
c.5384-9G>T (n.5384-9G>T)
c.5930-9G>T (n.5930-9G>T)
n.333+3983C>A
c.5300-9G>T (n.5300-9G>T)
c.4745-9G>T (n.4745-9G>T)
c.2855-9G>T (n.2855-9G>T)
c.5999-9G>T (n.5999-9G>T)
c.6503-9G>T (n.6503-9G>T)
c.6398-9G>T (n.6398-9G>T)
c.6185-9G>T (n.6185-9G>T)
c.6128-9G>T (n.6128-9G>T)
c.6044-9G>T (n.6044-9G>T)
c.6029-9G>T (n.6029-9G>T)
c.5933-9G>T (n.5933-9G>T)
c.5924-9G>T (n.5924-9G>T)
c.5906-9G>T (n.5906-9G>T)
c.5900-9G>T (n.5900-9G>T)
c.5873-9G>T (n.5873-9G>T)
c.5867-9G>T (n.5867-9G>T)
c.5849-9G>T (n.5849-9G>T)
c.5843-9G>T (n.5843-9G>T)
c.5840-9G>T (n.5840-9G>T)
c.5816-9G>T (n.5816-9G>T)
 gnomAD v4
12g.2686158C>ACA2617072244CACNA1C,CACNA1C-AS1c.5756-8C>A (n.5756-8C>A)
c.5786-8C>A (n.5786-8C>A)
c.5861-8C>A (n.5861-8C>A)
c.5894-8C>A (n.5894-8C>A)
c.5723-8C>A (n.5723-8C>A)
c.5771-8C>A (n.5771-8C>A)
c.6020-8C>A (n.6020-8C>A)
c.5648-8C>A (n.5648-8C>A)
c.5681-8C>A (n.5681-8C>A)
c.5672-8C>A (n.5672-8C>A)
c.5846-8C>A (n.5846-8C>A)
n.806-8C>A
n.2184-8C>A
n.811-8C>A
c.5825-8C>A (n.5825-8C>A)
c.5804-8C>A (n.5804-8C>A)
c.5705-8C>A (n.5705-8C>A)
c.5741-8C>A (n.5741-8C>A)
c.5738-8C>A (n.5738-8C>A)
c.5732-8C>A (n.5732-8C>A)
c.5765-8C>A (n.5765-8C>A)
c.5699-8C>A (n.5699-8C>A)
c.5309-8C>A (n.5309-8C>A)
c.5453-8C>A (n.5453-8C>A)
c.5348-8C>A (n.5348-8C>A)
c.1754-8C>A (n.1754-8C>A)
c.5384-8C>A (n.5384-8C>A)
c.5930-8C>A (n.5930-8C>A)
n.333+3982G>T
c.5300-8C>A (n.5300-8C>A)
c.4745-8C>A (n.4745-8C>A)
c.2855-8C>A (n.2855-8C>A)
c.5999-8C>A (n.5999-8C>A)
c.6503-8C>A (n.6503-8C>A)
c.6398-8C>A (n.6398-8C>A)
c.6185-8C>A (n.6185-8C>A)
c.6128-8C>A (n.6128-8C>A)
c.6044-8C>A (n.6044-8C>A)
c.6029-8C>A (n.6029-8C>A)
c.5933-8C>A (n.5933-8C>A)
c.5924-8C>A (n.5924-8C>A)
c.5906-8C>A (n.5906-8C>A)
c.5900-8C>A (n.5900-8C>A)
c.5873-8C>A (n.5873-8C>A)
c.5867-8C>A (n.5867-8C>A)
c.5849-8C>A (n.5849-8C>A)
c.5843-8C>A (n.5843-8C>A)
c.5840-8C>A (n.5840-8C>A)
c.5816-8C>A (n.5816-8C>A)
 gnomAD v4
12g.2686159T>CCA602741129CACNA1C,CACNA1C-AS1c.5756-7T>C (n.5756-7T>C)
c.5786-7T>C (n.5786-7T>C)
c.5861-7T>C (n.5861-7T>C)
c.5894-7T>C (n.5894-7T>C)
c.5723-7T>C (n.5723-7T>C)
c.5771-7T>C (n.5771-7T>C)
c.6020-7T>C (n.6020-7T>C)
c.5648-7T>C (n.5648-7T>C)
c.5681-7T>C (n.5681-7T>C)
c.5672-7T>C (n.5672-7T>C)
c.5846-7T>C (n.5846-7T>C)
n.806-7T>C
n.2184-7T>C
n.811-7T>C
c.5825-7T>C (n.5825-7T>C)
c.5804-7T>C (n.5804-7T>C)
c.5705-7T>C (n.5705-7T>C)
c.5741-7T>C (n.5741-7T>C)
c.5738-7T>C (n.5738-7T>C)
c.5732-7T>C (n.5732-7T>C)
c.5765-7T>C (n.5765-7T>C)
c.5699-7T>C (n.5699-7T>C)
c.5309-7T>C (n.5309-7T>C)
c.5453-7T>C (n.5453-7T>C)
c.5348-7T>C (n.5348-7T>C)
c.1754-7T>C (n.1754-7T>C)
c.5384-7T>C (n.5384-7T>C)
c.5930-7T>C (n.5930-7T>C)
n.333+3981A>G
c.5300-7T>C (n.5300-7T>C)
c.4745-7T>C (n.4745-7T>C)
c.2855-7T>C (n.2855-7T>C)
c.5999-7T>C (n.5999-7T>C)
c.6503-7T>C (n.6503-7T>C)
c.6398-7T>C (n.6398-7T>C)
c.6185-7T>C (n.6185-7T>C)
c.6128-7T>C (n.6128-7T>C)
c.6044-7T>C (n.6044-7T>C)
c.6029-7T>C (n.6029-7T>C)
c.5933-7T>C (n.5933-7T>C)
c.5924-7T>C (n.5924-7T>C)
c.5906-7T>C (n.5906-7T>C)
c.5900-7T>C (n.5900-7T>C)
c.5873-7T>C (n.5873-7T>C)
c.5867-7T>C (n.5867-7T>C)
c.5849-7T>C (n.5849-7T>C)
c.5843-7T>C (n.5843-7T>C)
c.5840-7T>C (n.5840-7T>C)
c.5816-7T>C (n.5816-7T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.2686159T=CA2012350951CACNA1C,CACNA1C-AS1c.5756-7T= (n.5756-7T=)
c.5786-7T= (n.5786-7T=)
c.5861-7T= (n.5861-7T=)
c.5894-7T= (n.5894-7T=)
c.5723-7T= (n.5723-7T=)
c.5771-7T= (n.5771-7T=)
c.6020-7T= (n.6020-7T=)
c.5648-7T= (n.5648-7T=)
c.5681-7T= (n.5681-7T=)
c.5672-7T= (n.5672-7T=)
c.5846-7T= (n.5846-7T=)
n.806-7T=
n.2184-7T=
n.811-7T=
c.5825-7T= (n.5825-7T=)
c.5804-7T= (n.5804-7T=)
c.5705-7T= (n.5705-7T=)
c.5741-7T= (n.5741-7T=)
c.5738-7T= (n.5738-7T=)
c.5732-7T= (n.5732-7T=)
c.5765-7T= (n.5765-7T=)
c.5699-7T= (n.5699-7T=)
c.5309-7T= (n.5309-7T=)
c.5453-7T= (n.5453-7T=)
c.5348-7T= (n.5348-7T=)
c.1754-7T= (n.1754-7T=)
c.5384-7T= (n.5384-7T=)
c.5930-7T= (n.5930-7T=)
n.333+3981A=
c.5300-7T= (n.5300-7T=)
c.4745-7T= (n.4745-7T=)
c.2855-7T= (n.2855-7T=)
c.5999-7T= (n.5999-7T=)
c.6503-7T= (n.6503-7T=)
c.6398-7T= (n.6398-7T=)
c.6185-7T= (n.6185-7T=)
c.6128-7T= (n.6128-7T=)
c.6044-7T= (n.6044-7T=)
c.6029-7T= (n.6029-7T=)
c.5933-7T= (n.5933-7T=)
c.5924-7T= (n.5924-7T=)
c.5906-7T= (n.5906-7T=)
c.5900-7T= (n.5900-7T=)
c.5873-7T= (n.5873-7T=)
c.5867-7T= (n.5867-7T=)
c.5849-7T= (n.5849-7T=)
c.5843-7T= (n.5843-7T=)
c.5840-7T= (n.5840-7T=)
c.5816-7T= (n.5816-7T=)
12g.2686160T>CCA2617072256CACNA1C,CACNA1C-AS1c.5756-6T>C (n.5756-6T>C)
c.5786-6T>C (n.5786-6T>C)
c.5861-6T>C (n.5861-6T>C)
c.5894-6T>C (n.5894-6T>C)
c.5723-6T>C (n.5723-6T>C)
c.5771-6T>C (n.5771-6T>C)
c.6020-6T>C (n.6020-6T>C)
c.5648-6T>C (n.5648-6T>C)
c.5681-6T>C (n.5681-6T>C)
c.5672-6T>C (n.5672-6T>C)
c.5846-6T>C (n.5846-6T>C)
n.806-6T>C
n.2184-6T>C
n.811-6T>C
c.5825-6T>C (n.5825-6T>C)
c.5804-6T>C (n.5804-6T>C)
c.5705-6T>C (n.5705-6T>C)
c.5741-6T>C (n.5741-6T>C)
c.5738-6T>C (n.5738-6T>C)
c.5732-6T>C (n.5732-6T>C)
c.5765-6T>C (n.5765-6T>C)
c.5699-6T>C (n.5699-6T>C)
c.5309-6T>C (n.5309-6T>C)
c.5453-6T>C (n.5453-6T>C)
c.5348-6T>C (n.5348-6T>C)
c.1754-6T>C (n.1754-6T>C)
c.5384-6T>C (n.5384-6T>C)
c.5930-6T>C (n.5930-6T>C)
n.333+3980A>G
c.5300-6T>C (n.5300-6T>C)
c.4745-6T>C (n.4745-6T>C)
c.2855-6T>C (n.2855-6T>C)
c.5999-6T>C (n.5999-6T>C)
c.6503-6T>C (n.6503-6T>C)
c.6398-6T>C (n.6398-6T>C)
c.6185-6T>C (n.6185-6T>C)
c.6128-6T>C (n.6128-6T>C)
c.6044-6T>C (n.6044-6T>C)
c.6029-6T>C (n.6029-6T>C)
c.5933-6T>C (n.5933-6T>C)
c.5924-6T>C (n.5924-6T>C)
c.5906-6T>C (n.5906-6T>C)
c.5900-6T>C (n.5900-6T>C)
c.5873-6T>C (n.5873-6T>C)
c.5867-6T>C (n.5867-6T>C)
c.5849-6T>C (n.5849-6T>C)
c.5843-6T>C (n.5843-6T>C)
c.5840-6T>C (n.5840-6T>C)
c.5816-6T>C (n.5816-6T>C)
 gnomAD v4
12g.2686162G>ACA602741130CACNA1C,CACNA1C-AS1c.5756-4G>A (n.5756-4G>A)
c.5786-4G>A (n.5786-4G>A)
c.5861-4G>A (n.5861-4G>A)
c.5894-4G>A (n.5894-4G>A)
c.5723-4G>A (n.5723-4G>A)
c.5771-4G>A (n.5771-4G>A)
c.6020-4G>A (n.6020-4G>A)
c.5648-4G>A (n.5648-4G>A)
c.5681-4G>A (n.5681-4G>A)
c.5672-4G>A (n.5672-4G>A)
c.5846-4G>A (n.5846-4G>A)
n.806-4G>A
n.2184-4G>A
n.811-4G>A
c.5825-4G>A (n.5825-4G>A)
c.5804-4G>A (n.5804-4G>A)
c.5705-4G>A (n.5705-4G>A)
c.5741-4G>A (n.5741-4G>A)
c.5738-4G>A (n.5738-4G>A)
c.5732-4G>A (n.5732-4G>A)
c.5765-4G>A (n.5765-4G>A)
c.5699-4G>A (n.5699-4G>A)
c.5309-4G>A (n.5309-4G>A)
c.5453-4G>A (n.5453-4G>A)
c.5348-4G>A (n.5348-4G>A)
c.1754-4G>A (n.1754-4G>A)
c.5384-4G>A (n.5384-4G>A)
c.5930-4G>A (n.5930-4G>A)
n.333+3978C>T
c.5300-4G>A (n.5300-4G>A)
c.4745-4G>A (n.4745-4G>A)
c.2855-4G>A (n.2855-4G>A)
c.5999-4G>A (n.5999-4G>A)
c.6503-4G>A (n.6503-4G>A)
c.6398-4G>A (n.6398-4G>A)
c.6185-4G>A (n.6185-4G>A)
c.6128-4G>A (n.6128-4G>A)
c.6044-4G>A (n.6044-4G>A)
c.6029-4G>A (n.6029-4G>A)
c.5933-4G>A (n.5933-4G>A)
c.5924-4G>A (n.5924-4G>A)
c.5906-4G>A (n.5906-4G>A)
c.5900-4G>A (n.5900-4G>A)
c.5873-4G>A (n.5873-4G>A)
c.5867-4G>A (n.5867-4G>A)
c.5849-4G>A (n.5849-4G>A)
c.5843-4G>A (n.5843-4G>A)
c.5840-4G>A (n.5840-4G>A)
c.5816-4G>A (n.5816-4G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.2686162G=CA2012350952CACNA1C,CACNA1C-AS1c.5756-4G= (n.5756-4G=)
c.5786-4G= (n.5786-4G=)
c.5861-4G= (n.5861-4G=)
c.5894-4G= (n.5894-4G=)
c.5723-4G= (n.5723-4G=)
c.5771-4G= (n.5771-4G=)
c.6020-4G= (n.6020-4G=)
c.5648-4G= (n.5648-4G=)
c.5681-4G= (n.5681-4G=)
c.5672-4G= (n.5672-4G=)
c.5846-4G= (n.5846-4G=)
n.806-4G=
n.2184-4G=
n.811-4G=
c.5825-4G= (n.5825-4G=)
c.5804-4G= (n.5804-4G=)
c.5705-4G= (n.5705-4G=)
c.5741-4G= (n.5741-4G=)
c.5738-4G= (n.5738-4G=)
c.5732-4G= (n.5732-4G=)
c.5765-4G= (n.5765-4G=)
c.5699-4G= (n.5699-4G=)
c.5309-4G= (n.5309-4G=)
c.5453-4G= (n.5453-4G=)
c.5348-4G= (n.5348-4G=)
c.1754-4G= (n.1754-4G=)
c.5384-4G= (n.5384-4G=)
c.5930-4G= (n.5930-4G=)
n.333+3978C=
c.5300-4G= (n.5300-4G=)
c.4745-4G= (n.4745-4G=)
c.2855-4G= (n.2855-4G=)
c.5999-4G= (n.5999-4G=)
c.6503-4G= (n.6503-4G=)
c.6398-4G= (n.6398-4G=)
c.6185-4G= (n.6185-4G=)
c.6128-4G= (n.6128-4G=)
c.6044-4G= (n.6044-4G=)
c.6029-4G= (n.6029-4G=)
c.5933-4G= (n.5933-4G=)
c.5924-4G= (n.5924-4G=)
c.5906-4G= (n.5906-4G=)
c.5900-4G= (n.5900-4G=)
c.5873-4G= (n.5873-4G=)
c.5867-4G= (n.5867-4G=)
c.5849-4G= (n.5849-4G=)
c.5843-4G= (n.5843-4G=)
c.5840-4G= (n.5840-4G=)
c.5816-4G= (n.5816-4G=)
12g.2686163C>TCA2575046110CACNA1C,CACNA1C-AS1c.5756-3C>T (n.5756-3C>T)
c.5786-3C>T (n.5786-3C>T)
c.5861-3C>T (n.5861-3C>T)
c.5894-3C>T (n.5894-3C>T)
c.5723-3C>T (n.5723-3C>T)
c.5771-3C>T (n.5771-3C>T)
c.6020-3C>T (n.6020-3C>T)
c.5648-3C>T (n.5648-3C>T)
c.5681-3C>T (n.5681-3C>T)
c.5672-3C>T (n.5672-3C>T)
c.5846-3C>T (n.5846-3C>T)
n.806-3C>T
n.2184-3C>T
n.811-3C>T
c.5825-3C>T (n.5825-3C>T)
c.5804-3C>T (n.5804-3C>T)
c.5705-3C>T (n.5705-3C>T)
c.5741-3C>T (n.5741-3C>T)
c.5738-3C>T (n.5738-3C>T)
c.5732-3C>T (n.5732-3C>T)
c.5765-3C>T (n.5765-3C>T)
c.5699-3C>T (n.5699-3C>T)
c.5309-3C>T (n.5309-3C>T)
c.5453-3C>T (n.5453-3C>T)
c.5348-3C>T (n.5348-3C>T)
c.1754-3C>T (n.1754-3C>T)
c.5384-3C>T (n.5384-3C>T)
c.5930-3C>T (n.5930-3C>T)
n.333+3977G>A
c.5300-3C>T (n.5300-3C>T)
c.4745-3C>T (n.4745-3C>T)
c.2855-3C>T (n.2855-3C>T)
c.5999-3C>T (n.5999-3C>T)
c.6503-3C>T (n.6503-3C>T)
c.6398-3C>T (n.6398-3C>T)
c.6185-3C>T (n.6185-3C>T)
c.6128-3C>T (n.6128-3C>T)
c.6044-3C>T (n.6044-3C>T)
c.6029-3C>T (n.6029-3C>T)
c.5933-3C>T (n.5933-3C>T)
c.5924-3C>T (n.5924-3C>T)
c.5906-3C>T (n.5906-3C>T)
c.5900-3C>T (n.5900-3C>T)
c.5873-3C>T (n.5873-3C>T)
c.5867-3C>T (n.5867-3C>T)
c.5849-3C>T (n.5849-3C>T)
c.5843-3C>T (n.5843-3C>T)
c.5840-3C>T (n.5840-3C>T)
c.5816-3C>T (n.5816-3C>T)
12g.2686164A>CCA383382422CACNA1C,CACNA1C-AS1c.5756-2A>C (n.5756-2A>C)
c.5786-2A>C (n.5786-2A>C)
c.5861-2A>C (n.5861-2A>C)
c.5894-2A>C (n.5894-2A>C)
c.5723-2A>C (n.5723-2A>C)
c.5771-2A>C (n.5771-2A>C)
c.6020-2A>C (n.6020-2A>C)
c.5648-2A>C (n.5648-2A>C)
c.5681-2A>C (n.5681-2A>C)
c.5672-2A>C (n.5672-2A>C)
c.5846-2A>C (n.5846-2A>C)
n.806-2A>C
n.2184-2A>C
n.811-2A>C
c.5825-2A>C (n.5825-2A>C)
c.5804-2A>C (n.5804-2A>C)
c.5705-2A>C (n.5705-2A>C)
c.5741-2A>C (n.5741-2A>C)
c.5738-2A>C (n.5738-2A>C)
c.5732-2A>C (n.5732-2A>C)
c.5765-2A>C (n.5765-2A>C)
c.5699-2A>C (n.5699-2A>C)
c.5309-2A>C (n.5309-2A>C)
c.5453-2A>C (n.5453-2A>C)
c.5348-2A>C (n.5348-2A>C)
c.1754-2A>C (n.1754-2A>C)
c.5384-2A>C (n.5384-2A>C)
c.5930-2A>C (n.5930-2A>C)
n.333+3976T>G
c.5300-2A>C (n.5300-2A>C)
c.4745-2A>C (n.4745-2A>C)
c.2855-2A>C (n.2855-2A>C)
c.5999-2A>C (n.5999-2A>C)
c.6503-2A>C (n.6503-2A>C)
c.6398-2A>C (n.6398-2A>C)
c.6185-2A>C (n.6185-2A>C)
c.6128-2A>C (n.6128-2A>C)
c.6044-2A>C (n.6044-2A>C)
c.6029-2A>C (n.6029-2A>C)
c.5933-2A>C (n.5933-2A>C)
c.5924-2A>C (n.5924-2A>C)
c.5906-2A>C (n.5906-2A>C)
c.5900-2A>C (n.5900-2A>C)
c.5873-2A>C (n.5873-2A>C)
c.5867-2A>C (n.5867-2A>C)
c.5849-2A>C (n.5849-2A>C)
c.5843-2A>C (n.5843-2A>C)
c.5840-2A>C (n.5840-2A>C)
c.5816-2A>C (n.5816-2A>C)
12g.2686164A>GCA383382424CACNA1C,CACNA1C-AS1c.5756-2A>G (n.5756-2A>G)
c.5786-2A>G (n.5786-2A>G)
c.5861-2A>G (n.5861-2A>G)
c.5894-2A>G (n.5894-2A>G)
c.5723-2A>G (n.5723-2A>G)
c.5771-2A>G (n.5771-2A>G)
c.6020-2A>G (n.6020-2A>G)
c.5648-2A>G (n.5648-2A>G)
c.5681-2A>G (n.5681-2A>G)
c.5672-2A>G (n.5672-2A>G)
c.5846-2A>G (n.5846-2A>G)
n.806-2A>G
n.2184-2A>G
n.811-2A>G
c.5825-2A>G (n.5825-2A>G)
c.5804-2A>G (n.5804-2A>G)
c.5705-2A>G (n.5705-2A>G)
c.5741-2A>G (n.5741-2A>G)
c.5738-2A>G (n.5738-2A>G)
c.5732-2A>G (n.5732-2A>G)
c.5765-2A>G (n.5765-2A>G)
c.5699-2A>G (n.5699-2A>G)
c.5309-2A>G (n.5309-2A>G)
c.5453-2A>G (n.5453-2A>G)
c.5348-2A>G (n.5348-2A>G)
c.1754-2A>G (n.1754-2A>G)
c.5384-2A>G (n.5384-2A>G)
c.5930-2A>G (n.5930-2A>G)
n.333+3976T>C
c.5300-2A>G (n.5300-2A>G)
c.4745-2A>G (n.4745-2A>G)
c.2855-2A>G (n.2855-2A>G)
c.5999-2A>G (n.5999-2A>G)
c.6503-2A>G (n.6503-2A>G)
c.6398-2A>G (n.6398-2A>G)
c.6185-2A>G (n.6185-2A>G)
c.6128-2A>G (n.6128-2A>G)
c.6044-2A>G (n.6044-2A>G)
c.6029-2A>G (n.6029-2A>G)
c.5933-2A>G (n.5933-2A>G)
c.5924-2A>G (n.5924-2A>G)
c.5906-2A>G (n.5906-2A>G)
c.5900-2A>G (n.5900-2A>G)
c.5873-2A>G (n.5873-2A>G)
c.5867-2A>G (n.5867-2A>G)
c.5849-2A>G (n.5849-2A>G)
c.5843-2A>G (n.5843-2A>G)
c.5840-2A>G (n.5840-2A>G)
c.5816-2A>G (n.5816-2A>G)
12g.2686164A>TCA383382426CACNA1C,CACNA1C-AS1c.5756-2A>T (n.5756-2A>T)
c.5786-2A>T (n.5786-2A>T)
c.5861-2A>T (n.5861-2A>T)
c.5894-2A>T (n.5894-2A>T)
c.5723-2A>T (n.5723-2A>T)
c.5771-2A>T (n.5771-2A>T)
c.6020-2A>T (n.6020-2A>T)
c.5648-2A>T (n.5648-2A>T)
c.5681-2A>T (n.5681-2A>T)
c.5672-2A>T (n.5672-2A>T)
c.5846-2A>T (n.5846-2A>T)
n.806-2A>T
n.2184-2A>T
n.811-2A>T
c.5825-2A>T (n.5825-2A>T)
c.5804-2A>T (n.5804-2A>T)
c.5705-2A>T (n.5705-2A>T)
c.5741-2A>T (n.5741-2A>T)
c.5738-2A>T (n.5738-2A>T)
c.5732-2A>T (n.5732-2A>T)
c.5765-2A>T (n.5765-2A>T)
c.5699-2A>T (n.5699-2A>T)
c.5309-2A>T (n.5309-2A>T)
c.5453-2A>T (n.5453-2A>T)
c.5348-2A>T (n.5348-2A>T)
c.1754-2A>T (n.1754-2A>T)
c.5384-2A>T (n.5384-2A>T)
c.5930-2A>T (n.5930-2A>T)
n.333+3976T>A
c.5300-2A>T (n.5300-2A>T)
c.4745-2A>T (n.4745-2A>T)
c.2855-2A>T (n.2855-2A>T)
c.5999-2A>T (n.5999-2A>T)
c.6503-2A>T (n.6503-2A>T)
c.6398-2A>T (n.6398-2A>T)
c.6185-2A>T (n.6185-2A>T)
c.6128-2A>T (n.6128-2A>T)
c.6044-2A>T (n.6044-2A>T)
c.6029-2A>T (n.6029-2A>T)
c.5933-2A>T (n.5933-2A>T)
c.5924-2A>T (n.5924-2A>T)
c.5906-2A>T (n.5906-2A>T)
c.5900-2A>T (n.5900-2A>T)
c.5873-2A>T (n.5873-2A>T)
c.5867-2A>T (n.5867-2A>T)
c.5849-2A>T (n.5849-2A>T)
c.5843-2A>T (n.5843-2A>T)
c.5840-2A>T (n.5840-2A>T)
c.5816-2A>T (n.5816-2A>T)
12g.2686165G>ACA383382428CACNA1C,CACNA1C-AS1c.5756-1G>A (n.5756-1G>A)
c.5786-1G>A (n.5786-1G>A)
c.5861-1G>A (n.5861-1G>A)
c.5894-1G>A (n.5894-1G>A)
c.5723-1G>A (n.5723-1G>A)
c.5771-1G>A (n.5771-1G>A)
c.6020-1G>A (n.6020-1G>A)
c.5648-1G>A (n.5648-1G>A)
c.5681-1G>A (n.5681-1G>A)
c.5672-1G>A (n.5672-1G>A)
c.5846-1G>A (n.5846-1G>A)
n.806-1G>A
n.2184-1G>A
n.811-1G>A
c.5825-1G>A (n.5825-1G>A)
c.5804-1G>A (n.5804-1G>A)
c.5705-1G>A (n.5705-1G>A)
c.5741-1G>A (n.5741-1G>A)
c.5738-1G>A (n.5738-1G>A)
c.5732-1G>A (n.5732-1G>A)
c.5765-1G>A (n.5765-1G>A)
c.5699-1G>A (n.5699-1G>A)
c.5309-1G>A (n.5309-1G>A)
c.5453-1G>A (n.5453-1G>A)
c.5348-1G>A (n.5348-1G>A)
c.1754-1G>A (n.1754-1G>A)
c.5384-1G>A (n.5384-1G>A)
c.5930-1G>A (n.5930-1G>A)
n.333+3975C>T
c.5300-1G>A (n.5300-1G>A)
c.4745-1G>A (n.4745-1G>A)
c.2855-1G>A (n.2855-1G>A)
c.5999-1G>A (n.5999-1G>A)
c.6503-1G>A (n.6503-1G>A)
c.6398-1G>A (n.6398-1G>A)
c.6185-1G>A (n.6185-1G>A)
c.6128-1G>A (n.6128-1G>A)
c.6044-1G>A (n.6044-1G>A)
c.6029-1G>A (n.6029-1G>A)
c.5933-1G>A (n.5933-1G>A)
c.5924-1G>A (n.5924-1G>A)
c.5906-1G>A (n.5906-1G>A)
c.5900-1G>A (n.5900-1G>A)
c.5873-1G>A (n.5873-1G>A)
c.5867-1G>A (n.5867-1G>A)
c.5849-1G>A (n.5849-1G>A)
c.5843-1G>A (n.5843-1G>A)
c.5840-1G>A (n.5840-1G>A)
c.5816-1G>A (n.5816-1G>A)
12g.2686165G>CCA383382430CACNA1C,CACNA1C-AS1c.5756-1G>C (n.5756-1G>C)
c.5786-1G>C (n.5786-1G>C)
c.5861-1G>C (n.5861-1G>C)
c.5894-1G>C (n.5894-1G>C)
c.5723-1G>C (n.5723-1G>C)
c.5771-1G>C (n.5771-1G>C)
c.6020-1G>C (n.6020-1G>C)
c.5648-1G>C (n.5648-1G>C)
c.5681-1G>C (n.5681-1G>C)
c.5672-1G>C (n.5672-1G>C)
c.5846-1G>C (n.5846-1G>C)
n.806-1G>C
n.2184-1G>C
n.811-1G>C
c.5825-1G>C (n.5825-1G>C)
c.5804-1G>C (n.5804-1G>C)
c.5705-1G>C (n.5705-1G>C)
c.5741-1G>C (n.5741-1G>C)
c.5738-1G>C (n.5738-1G>C)
c.5732-1G>C (n.5732-1G>C)
c.5765-1G>C (n.5765-1G>C)
c.5699-1G>C (n.5699-1G>C)
c.5309-1G>C (n.5309-1G>C)
c.5453-1G>C (n.5453-1G>C)
c.5348-1G>C (n.5348-1G>C)
c.1754-1G>C (n.1754-1G>C)
c.5384-1G>C (n.5384-1G>C)
c.5930-1G>C (n.5930-1G>C)
n.333+3975C>G
c.5300-1G>C (n.5300-1G>C)
c.4745-1G>C (n.4745-1G>C)
c.2855-1G>C (n.2855-1G>C)
c.5999-1G>C (n.5999-1G>C)
c.6503-1G>C (n.6503-1G>C)
c.6398-1G>C (n.6398-1G>C)
c.6185-1G>C (n.6185-1G>C)
c.6128-1G>C (n.6128-1G>C)
c.6044-1G>C (n.6044-1G>C)
c.6029-1G>C (n.6029-1G>C)
c.5933-1G>C (n.5933-1G>C)
c.5924-1G>C (n.5924-1G>C)
c.5906-1G>C (n.5906-1G>C)
c.5900-1G>C (n.5900-1G>C)
c.5873-1G>C (n.5873-1G>C)
c.5867-1G>C (n.5867-1G>C)
c.5849-1G>C (n.5849-1G>C)
c.5843-1G>C (n.5843-1G>C)
c.5840-1G>C (n.5840-1G>C)
c.5816-1G>C (n.5816-1G>C)
12g.2686165G>TCA383382431CACNA1C,CACNA1C-AS1c.5756-1G>T (n.5756-1G>T)
c.5786-1G>T (n.5786-1G>T)
c.5861-1G>T (n.5861-1G>T)
c.5894-1G>T (n.5894-1G>T)
c.5723-1G>T (n.5723-1G>T)
c.5771-1G>T (n.5771-1G>T)
c.6020-1G>T (n.6020-1G>T)
c.5648-1G>T (n.5648-1G>T)
c.5681-1G>T (n.5681-1G>T)
c.5672-1G>T (n.5672-1G>T)
c.5846-1G>T (n.5846-1G>T)
n.806-1G>T
n.2184-1G>T
n.811-1G>T
c.5825-1G>T (n.5825-1G>T)
c.5804-1G>T (n.5804-1G>T)
c.5705-1G>T (n.5705-1G>T)
c.5741-1G>T (n.5741-1G>T)
c.5738-1G>T (n.5738-1G>T)
c.5732-1G>T (n.5732-1G>T)
c.5765-1G>T (n.5765-1G>T)
c.5699-1G>T (n.5699-1G>T)
c.5309-1G>T (n.5309-1G>T)
c.5453-1G>T (n.5453-1G>T)
c.5348-1G>T (n.5348-1G>T)
c.1754-1G>T (n.1754-1G>T)
c.5384-1G>T (n.5384-1G>T)
c.5930-1G>T (n.5930-1G>T)
n.333+3975C>A
c.5300-1G>T (n.5300-1G>T)
c.4745-1G>T (n.4745-1G>T)
c.2855-1G>T (n.2855-1G>T)
c.5999-1G>T (n.5999-1G>T)
c.6503-1G>T (n.6503-1G>T)
c.6398-1G>T (n.6398-1G>T)
c.6185-1G>T (n.6185-1G>T)
c.6128-1G>T (n.6128-1G>T)
c.6044-1G>T (n.6044-1G>T)
c.6029-1G>T (n.6029-1G>T)
c.5933-1G>T (n.5933-1G>T)
c.5924-1G>T (n.5924-1G>T)
c.5906-1G>T (n.5906-1G>T)
c.5900-1G>T (n.5900-1G>T)
c.5873-1G>T (n.5873-1G>T)
c.5867-1G>T (n.5867-1G>T)
c.5849-1G>T (n.5849-1G>T)
c.5843-1G>T (n.5843-1G>T)
c.5840-1G>T (n.5840-1G>T)
c.5816-1G>T (n.5816-1G>T)
12g.2686166G>ACA6389950CACNA1C,CACNA1C-AS1c.5756G>A (p.Gly1919Asp)
c.5786G>A (p.Gly1929Asp)
c.5861G>A (p.Gly1954Asp)
c.5894G>A (p.Gly1965Asp)
c.5723G>A (p.Gly1908Asp)
c.5771G>A (p.Gly1924Asp)
c.6020G>A (p.Gly2007Asp)
c.5648G>A (p.Gly1883Asp)
c.5681G>A (p.Gly1894Asp)
c.5672G>A (p.Gly1891Asp)
c.5846G>A (p.Gly1949Asp)
n.806G>A
n.2184G>A
n.811G>A
c.5825G>A (p.Gly1942Asp)
c.5804G>A (p.Gly1935Asp)
c.5705G>A (p.Gly1902Asp)
c.5741G>A (p.Gly1914Asp)
c.5738G>A (p.Gly1913Asp)
c.5732G>A (p.Gly1911Asp)
c.5765G>A (p.Gly1922Asp)
c.5699G>A (p.Gly1900Asp)
c.5309G>A (p.Gly1770Asp)
c.5453G>A (p.Gly1818Asp)
c.5348G>A (p.Gly1783Asp)
c.1754G>A (p.Gly585Asp)
c.5384G>A (p.Gly1795Asp)
c.5930G>A (p.Gly1977Asp)
n.333+3974C>T
c.5300G>A (p.Gly1767Asp)
c.4745G>A (p.Gly1582Asp)
c.2855G>A (p.Gly952Asp)
c.5999G>A (p.Gly2000Asp)
c.6503G>A (p.Gly2168Asp)
c.6398G>A (p.Gly2133Asp)
c.6185G>A (p.Gly2062Asp)
c.6128G>A (p.Gly2043Asp)
c.6044G>A (p.Gly2015Asp)
c.6029G>A (p.Gly2010Asp)
c.5933G>A (p.Gly1978Asp)
c.5924G>A (p.Gly1975Asp)
c.5906G>A (p.Gly1969Asp)
c.5900G>A (p.Gly1967Asp)
c.5873G>A (p.Gly1958Asp)
c.5867G>A (p.Gly1956Asp)
c.5849G>A (p.Gly1950Asp)
c.5843G>A (p.Gly1948Asp)
c.5840G>A (p.Gly1947Asp)
c.5816G>A (p.Gly1939Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686166G>CCA383382434CACNA1C,CACNA1C-AS1c.5756G>C (p.Gly1919Ala)
c.5786G>C (p.Gly1929Ala)
c.5861G>C (p.Gly1954Ala)
c.5894G>C (p.Gly1965Ala)
c.5723G>C (p.Gly1908Ala)
c.5771G>C (p.Gly1924Ala)
c.6020G>C (p.Gly2007Ala)
c.5648G>C (p.Gly1883Ala)
c.5681G>C (p.Gly1894Ala)
c.5672G>C (p.Gly1891Ala)
c.5846G>C (p.Gly1949Ala)
n.806G>C
n.2184G>C
n.811G>C
c.5825G>C (p.Gly1942Ala)
c.5804G>C (p.Gly1935Ala)
c.5705G>C (p.Gly1902Ala)
c.5741G>C (p.Gly1914Ala)
c.5738G>C (p.Gly1913Ala)
c.5732G>C (p.Gly1911Ala)
c.5765G>C (p.Gly1922Ala)
c.5699G>C (p.Gly1900Ala)
c.5309G>C (p.Gly1770Ala)
c.5453G>C (p.Gly1818Ala)
c.5348G>C (p.Gly1783Ala)
c.1754G>C (p.Gly585Ala)
c.5384G>C (p.Gly1795Ala)
c.5930G>C (p.Gly1977Ala)
n.333+3974C>G
c.5300G>C (p.Gly1767Ala)
c.4745G>C (p.Gly1582Ala)
c.2855G>C (p.Gly952Ala)
c.5999G>C (p.Gly2000Ala)
c.6503G>C (p.Gly2168Ala)
c.6398G>C (p.Gly2133Ala)
c.6185G>C (p.Gly2062Ala)
c.6128G>C (p.Gly2043Ala)
c.6044G>C (p.Gly2015Ala)
c.6029G>C (p.Gly2010Ala)
c.5933G>C (p.Gly1978Ala)
c.5924G>C (p.Gly1975Ala)
c.5906G>C (p.Gly1969Ala)
c.5900G>C (p.Gly1967Ala)
c.5873G>C (p.Gly1958Ala)
c.5867G>C (p.Gly1956Ala)
c.5849G>C (p.Gly1950Ala)
c.5843G>C (p.Gly1948Ala)
c.5840G>C (p.Gly1947Ala)
c.5816G>C (p.Gly1939Ala)
12g.2686166G=CA2012350953CACNA1C,CACNA1C-AS1c.5756G= (p.Gly1919=)
c.5786G= (p.Gly1929=)
c.5861G= (p.Gly1954=)
c.5894G= (p.Gly1965=)
c.5723G= (p.Gly1908=)
c.5771G= (p.Gly1924=)
c.6020G= (p.Gly2007=)
c.5648G= (p.Gly1883=)
c.5681G= (p.Gly1894=)
c.5672G= (p.Gly1891=)
c.5846G= (p.Gly1949=)
n.806G=
n.2184G=
n.811G=
c.5825G= (p.Gly1942=)
c.5804G= (p.Gly1935=)
c.5705G= (p.Gly1902=)
c.5741G= (p.Gly1914=)
c.5738G= (p.Gly1913=)
c.5732G= (p.Gly1911=)
c.5765G= (p.Gly1922=)
c.5699G= (p.Gly1900=)
c.5309G= (p.Gly1770=)
c.5453G= (p.Gly1818=)
c.5348G= (p.Gly1783=)
c.1754G= (p.Gly585=)
c.5384G= (p.Gly1795=)
c.5930G= (p.Gly1977=)
n.333+3974C=
c.5300G= (p.Gly1767=)
c.4745G= (p.Gly1582=)
c.2855G= (p.Gly952=)
c.5999G= (p.Gly2000=)
c.6503G= (p.Gly2168=)
c.6398G= (p.Gly2133=)
c.6185G= (p.Gly2062=)
c.6128G= (p.Gly2043=)
c.6044G= (p.Gly2015=)
c.6029G= (p.Gly2010=)
c.5933G= (p.Gly1978=)
c.5924G= (p.Gly1975=)
c.5906G= (p.Gly1969=)
c.5900G= (p.Gly1967=)
c.5873G= (p.Gly1958=)
c.5867G= (p.Gly1956=)
c.5849G= (p.Gly1950=)
c.5843G= (p.Gly1948=)
c.5840G= (p.Gly1947=)
c.5816G= (p.Gly1939=)
12g.2686166G>TCA383382433CACNA1C,CACNA1C-AS1c.5756G>T (p.Gly1919Val)
c.5786G>T (p.Gly1929Val)
c.5861G>T (p.Gly1954Val)
c.5894G>T (p.Gly1965Val)
c.5723G>T (p.Gly1908Val)
c.5771G>T (p.Gly1924Val)
c.6020G>T (p.Gly2007Val)
c.5648G>T (p.Gly1883Val)
c.5681G>T (p.Gly1894Val)
c.5672G>T (p.Gly1891Val)
c.5846G>T (p.Gly1949Val)
n.806G>T
n.2184G>T
n.811G>T
c.5825G>T (p.Gly1942Val)
c.5804G>T (p.Gly1935Val)
c.5705G>T (p.Gly1902Val)
c.5741G>T (p.Gly1914Val)
c.5738G>T (p.Gly1913Val)
c.5732G>T (p.Gly1911Val)
c.5765G>T (p.Gly1922Val)
c.5699G>T (p.Gly1900Val)
c.5309G>T (p.Gly1770Val)
c.5453G>T (p.Gly1818Val)
c.5348G>T (p.Gly1783Val)
c.1754G>T (p.Gly585Val)
c.5384G>T (p.Gly1795Val)
c.5930G>T (p.Gly1977Val)
n.333+3974C>A
c.5300G>T (p.Gly1767Val)
c.4745G>T (p.Gly1582Val)
c.2855G>T (p.Gly952Val)
c.5999G>T (p.Gly2000Val)
c.6503G>T (p.Gly2168Val)
c.6398G>T (p.Gly2133Val)
c.6185G>T (p.Gly2062Val)
c.6128G>T (p.Gly2043Val)
c.6044G>T (p.Gly2015Val)
c.6029G>T (p.Gly2010Val)
c.5933G>T (p.Gly1978Val)
c.5924G>T (p.Gly1975Val)
c.5906G>T (p.Gly1969Val)
c.5900G>T (p.Gly1967Val)
c.5873G>T (p.Gly1958Val)
c.5867G>T (p.Gly1956Val)
c.5849G>T (p.Gly1950Val)
c.5843G>T (p.Gly1948Val)
c.5840G>T (p.Gly1947Val)
c.5816G>T (p.Gly1939Val)
12g.2686167T>ACA477902095CACNA1C,CACNA1C-AS1c.5757T>A (p.Gly1919=)
c.5787T>A (p.Gly1929=)
c.5862T>A (p.Gly1954=)
c.5895T>A (p.Gly1965=)
c.5724T>A (p.Gly1908=)
c.5772T>A (p.Gly1924=)
c.6021T>A (p.Gly2007=)
c.5649T>A (p.Gly1883=)
c.5682T>A (p.Gly1894=)
c.5673T>A (p.Gly1891=)
c.5847T>A (p.Gly1949=)
n.807T>A
n.2185T>A
n.812T>A
c.5826T>A (p.Gly1942=)
c.5805T>A (p.Gly1935=)
c.5706T>A (p.Gly1902=)
c.5742T>A (p.Gly1914=)
c.5739T>A (p.Gly1913=)
c.5733T>A (p.Gly1911=)
c.5766T>A (p.Gly1922=)
c.5700T>A (p.Gly1900=)
c.5310T>A (p.Gly1770=)
c.5454T>A (p.Gly1818=)
c.5349T>A (p.Gly1783=)
c.1755T>A (p.Gly585=)
c.5385T>A (p.Gly1795=)
c.5931T>A (p.Gly1977=)
n.333+3973A>T
c.5301T>A (p.Gly1767=)
c.4746T>A (p.Gly1582=)
c.2856T>A (p.Gly952=)
c.6000T>A (p.Gly2000=)
c.6504T>A (p.Gly2168=)
c.6399T>A (p.Gly2133=)
c.6186T>A (p.Gly2062=)
c.6129T>A (p.Gly2043=)
c.6045T>A (p.Gly2015=)
c.6030T>A (p.Gly2010=)
c.5934T>A (p.Gly1978=)
c.5925T>A (p.Gly1975=)
c.5907T>A (p.Gly1969=)
c.5901T>A (p.Gly1967=)
c.5874T>A (p.Gly1958=)
c.5868T>A (p.Gly1956=)
c.5850T>A (p.Gly1950=)
c.5844T>A (p.Gly1948=)
c.5841T>A (p.Gly1947=)
c.5817T>A (p.Gly1939=)
12g.2686167T>CCA477902100CACNA1C,CACNA1C-AS1c.5757T>C (p.Gly1919=)
c.5787T>C (p.Gly1929=)
c.5862T>C (p.Gly1954=)
c.5895T>C (p.Gly1965=)
c.5724T>C (p.Gly1908=)
c.5772T>C (p.Gly1924=)
c.6021T>C (p.Gly2007=)
c.5649T>C (p.Gly1883=)
c.5682T>C (p.Gly1894=)
c.5673T>C (p.Gly1891=)
c.5847T>C (p.Gly1949=)
n.807T>C
n.2185T>C
n.812T>C
c.5826T>C (p.Gly1942=)
c.5805T>C (p.Gly1935=)
c.5706T>C (p.Gly1902=)
c.5742T>C (p.Gly1914=)
c.5739T>C (p.Gly1913=)
c.5733T>C (p.Gly1911=)
c.5766T>C (p.Gly1922=)
c.5700T>C (p.Gly1900=)
c.5310T>C (p.Gly1770=)
c.5454T>C (p.Gly1818=)
c.5349T>C (p.Gly1783=)
c.1755T>C (p.Gly585=)
c.5385T>C (p.Gly1795=)
c.5931T>C (p.Gly1977=)
n.333+3973A>G
c.5301T>C (p.Gly1767=)
c.4746T>C (p.Gly1582=)
c.2856T>C (p.Gly952=)
c.6000T>C (p.Gly2000=)
c.6504T>C (p.Gly2168=)
c.6399T>C (p.Gly2133=)
c.6186T>C (p.Gly2062=)
c.6129T>C (p.Gly2043=)
c.6045T>C (p.Gly2015=)
c.6030T>C (p.Gly2010=)
c.5934T>C (p.Gly1978=)
c.5925T>C (p.Gly1975=)
c.5907T>C (p.Gly1969=)
c.5901T>C (p.Gly1967=)
c.5874T>C (p.Gly1958=)
c.5868T>C (p.Gly1956=)
c.5850T>C (p.Gly1950=)
c.5844T>C (p.Gly1948=)
c.5841T>C (p.Gly1947=)
c.5817T>C (p.Gly1939=)
12g.2686167T>GCA477902097CACNA1C,CACNA1C-AS1c.5757T>G (p.Gly1919=)
c.5787T>G (p.Gly1929=)
c.5862T>G (p.Gly1954=)
c.5895T>G (p.Gly1965=)
c.5724T>G (p.Gly1908=)
c.5772T>G (p.Gly1924=)
c.6021T>G (p.Gly2007=)
c.5649T>G (p.Gly1883=)
c.5682T>G (p.Gly1894=)
c.5673T>G (p.Gly1891=)
c.5847T>G (p.Gly1949=)
n.807T>G
n.2185T>G
n.812T>G
c.5826T>G (p.Gly1942=)
c.5805T>G (p.Gly1935=)
c.5706T>G (p.Gly1902=)
c.5742T>G (p.Gly1914=)
c.5739T>G (p.Gly1913=)
c.5733T>G (p.Gly1911=)
c.5766T>G (p.Gly1922=)
c.5700T>G (p.Gly1900=)
c.5310T>G (p.Gly1770=)
c.5454T>G (p.Gly1818=)
c.5349T>G (p.Gly1783=)
c.1755T>G (p.Gly585=)
c.5385T>G (p.Gly1795=)
c.5931T>G (p.Gly1977=)
n.333+3973A>C
c.5301T>G (p.Gly1767=)
c.4746T>G (p.Gly1582=)
c.2856T>G (p.Gly952=)
c.6000T>G (p.Gly2000=)
c.6504T>G (p.Gly2168=)
c.6399T>G (p.Gly2133=)
c.6186T>G (p.Gly2062=)
c.6129T>G (p.Gly2043=)
c.6045T>G (p.Gly2015=)
c.6030T>G (p.Gly2010=)
c.5934T>G (p.Gly1978=)
c.5925T>G (p.Gly1975=)
c.5907T>G (p.Gly1969=)
c.5901T>G (p.Gly1967=)
c.5874T>G (p.Gly1958=)
c.5868T>G (p.Gly1956=)
c.5850T>G (p.Gly1950=)
c.5844T>G (p.Gly1948=)
c.5841T>G (p.Gly1947=)
c.5817T>G (p.Gly1939=)
 gnomAD v4
12g.2686168C>ACA477902105CACNA1C,CACNA1C-AS1c.5758C>A (p.Arg1920=)
c.5788C>A (p.Arg1930=)
c.5863C>A (p.Arg1955=)
c.5896C>A (p.Arg1966=)
c.5725C>A (p.Arg1909=)
c.5773C>A (p.Arg1925=)
c.6022C>A (p.Arg2008=)
c.5650C>A (p.Arg1884=)
c.5683C>A (p.Arg1895=)
c.5674C>A (p.Arg1892=)
c.5848C>A (p.Arg1950=)
n.808C>A
n.2186C>A
n.813C>A
c.5827C>A (p.Arg1943=)
c.5806C>A (p.Arg1936=)
c.5707C>A (p.Arg1903=)
c.5743C>A (p.Arg1915=)
c.5740C>A (p.Arg1914=)
c.5734C>A (p.Arg1912=)
c.5767C>A (p.Arg1923=)
c.5701C>A (p.Arg1901=)
c.5311C>A (p.Arg1771=)
c.5455C>A (p.Arg1819=)
c.5350C>A (p.Arg1784=)
c.1756C>A (p.Arg586=)
c.5386C>A (p.Arg1796=)
c.5932C>A (p.Arg1978=)
n.333+3972G>T
c.5302C>A (p.Arg1768=)
c.4747C>A (p.Arg1583=)
c.2857C>A (p.Arg953=)
c.6001C>A (p.Arg2001=)
c.6505C>A (p.Arg2169=)
c.6400C>A (p.Arg2134=)
c.6187C>A (p.Arg2063=)
c.6130C>A (p.Arg2044=)
c.6046C>A (p.Arg2016=)
c.6031C>A (p.Arg2011=)
c.5935C>A (p.Arg1979=)
c.5926C>A (p.Arg1976=)
c.5908C>A (p.Arg1970=)
c.5902C>A (p.Arg1968=)
c.5875C>A (p.Arg1959=)
c.5869C>A (p.Arg1957=)
c.5851C>A (p.Arg1951=)
c.5845C>A (p.Arg1949=)
c.5842C>A (p.Arg1948=)
c.5818C>A (p.Arg1940=)
12g.2686168C=CA2012350954CACNA1C,CACNA1C-AS1c.5758C= (p.Arg1920=)
c.5788C= (p.Arg1930=)
c.5863C= (p.Arg1955=)
c.5896C= (p.Arg1966=)
c.5725C= (p.Arg1909=)
c.5773C= (p.Arg1925=)
c.6022C= (p.Arg2008=)
c.5650C= (p.Arg1884=)
c.5683C= (p.Arg1895=)
c.5674C= (p.Arg1892=)
c.5848C= (p.Arg1950=)
n.808C=
n.2186C=
n.813C=
c.5827C= (p.Arg1943=)
c.5806C= (p.Arg1936=)
c.5707C= (p.Arg1903=)
c.5743C= (p.Arg1915=)
c.5740C= (p.Arg1914=)
c.5734C= (p.Arg1912=)
c.5767C= (p.Arg1923=)
c.5701C= (p.Arg1901=)
c.5311C= (p.Arg1771=)
c.5455C= (p.Arg1819=)
c.5350C= (p.Arg1784=)
c.1756C= (p.Arg586=)
c.5386C= (p.Arg1796=)
c.5932C= (p.Arg1978=)
n.333+3972G=
c.5302C= (p.Arg1768=)
c.4747C= (p.Arg1583=)
c.2857C= (p.Arg953=)
c.6001C= (p.Arg2001=)
c.6505C= (p.Arg2169=)
c.6400C= (p.Arg2134=)
c.6187C= (p.Arg2063=)
c.6130C= (p.Arg2044=)
c.6046C= (p.Arg2016=)
c.6031C= (p.Arg2011=)
c.5935C= (p.Arg1979=)
c.5926C= (p.Arg1976=)
c.5908C= (p.Arg1970=)
c.5902C= (p.Arg1968=)
c.5875C= (p.Arg1959=)
c.5869C= (p.Arg1957=)
c.5851C= (p.Arg1951=)
c.5845C= (p.Arg1949=)
c.5842C= (p.Arg1948=)
c.5818C= (p.Arg1940=)
12g.2686168C>GCA383382436CACNA1C,CACNA1C-AS1c.5758C>G (p.Arg1920Gly)
c.5788C>G (p.Arg1930Gly)
c.5863C>G (p.Arg1955Gly)
c.5896C>G (p.Arg1966Gly)
c.5725C>G (p.Arg1909Gly)
c.5773C>G (p.Arg1925Gly)
c.6022C>G (p.Arg2008Gly)
c.5650C>G (p.Arg1884Gly)
c.5683C>G (p.Arg1895Gly)
c.5674C>G (p.Arg1892Gly)
c.5848C>G (p.Arg1950Gly)
n.808C>G
n.2186C>G
n.813C>G
c.5827C>G (p.Arg1943Gly)
c.5806C>G (p.Arg1936Gly)
c.5707C>G (p.Arg1903Gly)
c.5743C>G (p.Arg1915Gly)
c.5740C>G (p.Arg1914Gly)
c.5734C>G (p.Arg1912Gly)
c.5767C>G (p.Arg1923Gly)
c.5701C>G (p.Arg1901Gly)
c.5311C>G (p.Arg1771Gly)
c.5455C>G (p.Arg1819Gly)
c.5350C>G (p.Arg1784Gly)
c.1756C>G (p.Arg586Gly)
c.5386C>G (p.Arg1796Gly)
c.5932C>G (p.Arg1978Gly)
n.333+3972G>C
c.5302C>G (p.Arg1768Gly)
c.4747C>G (p.Arg1583Gly)
c.2857C>G (p.Arg953Gly)
c.6001C>G (p.Arg2001Gly)
c.6505C>G (p.Arg2169Gly)
c.6400C>G (p.Arg2134Gly)
c.6187C>G (p.Arg2063Gly)
c.6130C>G (p.Arg2044Gly)
c.6046C>G (p.Arg2016Gly)
c.6031C>G (p.Arg2011Gly)
c.5935C>G (p.Arg1979Gly)
c.5926C>G (p.Arg1976Gly)
c.5908C>G (p.Arg1970Gly)
c.5902C>G (p.Arg1968Gly)
c.5875C>G (p.Arg1959Gly)
c.5869C>G (p.Arg1957Gly)
c.5851C>G (p.Arg1951Gly)
c.5845C>G (p.Arg1949Gly)
c.5842C>G (p.Arg1948Gly)
c.5818C>G (p.Arg1940Gly)
12g.2686168C>TCA383382438CACNA1C,CACNA1C-AS1c.5758C>T (p.Arg1920Ter)
c.5788C>T (p.Arg1930Ter)
c.5863C>T (p.Arg1955Ter)
c.5896C>T (p.Arg1966Ter)
c.5725C>T (p.Arg1909Ter)
c.5773C>T (p.Arg1925Ter)
c.6022C>T (p.Arg2008Ter)
c.5650C>T (p.Arg1884Ter)
c.5683C>T (p.Arg1895Ter)
c.5674C>T (p.Arg1892Ter)
c.5848C>T (p.Arg1950Ter)
n.808C>T
n.2186C>T
n.813C>T
c.5827C>T (p.Arg1943Ter)
c.5806C>T (p.Arg1936Ter)
c.5707C>T (p.Arg1903Ter)
c.5743C>T (p.Arg1915Ter)
c.5740C>T (p.Arg1914Ter)
c.5734C>T (p.Arg1912Ter)
c.5767C>T (p.Arg1923Ter)
c.5701C>T (p.Arg1901Ter)
c.5311C>T (p.Arg1771Ter)
c.5455C>T (p.Arg1819Ter)
c.5350C>T (p.Arg1784Ter)
c.1756C>T (p.Arg586Ter)
c.5386C>T (p.Arg1796Ter)
c.5932C>T (p.Arg1978Ter)
n.333+3972G>A
c.5302C>T (p.Arg1768Ter)
c.4747C>T (p.Arg1583Ter)
c.2857C>T (p.Arg953Ter)
c.6001C>T (p.Arg2001Ter)
c.6505C>T (p.Arg2169Ter)
c.6400C>T (p.Arg2134Ter)
c.6187C>T (p.Arg2063Ter)
c.6130C>T (p.Arg2044Ter)
c.6046C>T (p.Arg2016Ter)
c.6031C>T (p.Arg2011Ter)
c.5935C>T (p.Arg1979Ter)
c.5926C>T (p.Arg1976Ter)
c.5908C>T (p.Arg1970Ter)
c.5902C>T (p.Arg1968Ter)
c.5875C>T (p.Arg1959Ter)
c.5869C>T (p.Arg1957Ter)
c.5851C>T (p.Arg1951Ter)
c.5845C>T (p.Arg1949Ter)
c.5842C>T (p.Arg1948Ter)
c.5818C>T (p.Arg1940Ter)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686169G>ACA6389951CACNA1C,CACNA1C-AS1c.5759G>A (p.Arg1920Gln)
c.5789G>A (p.Arg1930Gln)
c.5864G>A (p.Arg1955Gln)
c.5897G>A (p.Arg1966Gln)
c.5726G>A (p.Arg1909Gln)
c.5774G>A (p.Arg1925Gln)
c.6023G>A (p.Arg2008Gln)
c.5651G>A (p.Arg1884Gln)
c.5684G>A (p.Arg1895Gln)
c.5675G>A (p.Arg1892Gln)
c.5849G>A (p.Arg1950Gln)
n.809G>A
n.2187G>A
n.814G>A
c.5828G>A (p.Arg1943Gln)
c.5807G>A (p.Arg1936Gln)
c.5708G>A (p.Arg1903Gln)
c.5744G>A (p.Arg1915Gln)
c.5741G>A (p.Arg1914Gln)
c.5735G>A (p.Arg1912Gln)
c.5768G>A (p.Arg1923Gln)
c.5702G>A (p.Arg1901Gln)
c.5312G>A (p.Arg1771Gln)
c.5456G>A (p.Arg1819Gln)
c.5351G>A (p.Arg1784Gln)
c.1757G>A (p.Arg586Gln)
c.5387G>A (p.Arg1796Gln)
c.5933G>A (p.Arg1978Gln)
n.333+3971C>T
c.5303G>A (p.Arg1768Gln)
c.4748G>A (p.Arg1583Gln)
c.2858G>A (p.Arg953Gln)
c.6002G>A (p.Arg2001Gln)
c.6506G>A (p.Arg2169Gln)
c.6401G>A (p.Arg2134Gln)
c.6188G>A (p.Arg2063Gln)
c.6131G>A (p.Arg2044Gln)
c.6047G>A (p.Arg2016Gln)
c.6032G>A (p.Arg2011Gln)
c.5936G>A (p.Arg1979Gln)
c.5927G>A (p.Arg1976Gln)
c.5909G>A (p.Arg1970Gln)
c.5903G>A (p.Arg1968Gln)
c.5876G>A (p.Arg1959Gln)
c.5870G>A (p.Arg1957Gln)
c.5852G>A (p.Arg1951Gln)
c.5846G>A (p.Arg1949Gln)
c.5843G>A (p.Arg1948Gln)
c.5819G>A (p.Arg1940Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686169G>CCA383382441CACNA1C,CACNA1C-AS1c.5759G>C (p.Arg1920Pro)
c.5789G>C (p.Arg1930Pro)
c.5864G>C (p.Arg1955Pro)
c.5897G>C (p.Arg1966Pro)
c.5726G>C (p.Arg1909Pro)
c.5774G>C (p.Arg1925Pro)
c.6023G>C (p.Arg2008Pro)
c.5651G>C (p.Arg1884Pro)
c.5684G>C (p.Arg1895Pro)
c.5675G>C (p.Arg1892Pro)
c.5849G>C (p.Arg1950Pro)
n.809G>C
n.2187G>C
n.814G>C
c.5828G>C (p.Arg1943Pro)
c.5807G>C (p.Arg1936Pro)
c.5708G>C (p.Arg1903Pro)
c.5744G>C (p.Arg1915Pro)
c.5741G>C (p.Arg1914Pro)
c.5735G>C (p.Arg1912Pro)
c.5768G>C (p.Arg1923Pro)
c.5702G>C (p.Arg1901Pro)
c.5312G>C (p.Arg1771Pro)
c.5456G>C (p.Arg1819Pro)
c.5351G>C (p.Arg1784Pro)
c.1757G>C (p.Arg586Pro)
c.5387G>C (p.Arg1796Pro)
c.5933G>C (p.Arg1978Pro)
n.333+3971C>G
c.5303G>C (p.Arg1768Pro)
c.4748G>C (p.Arg1583Pro)
c.2858G>C (p.Arg953Pro)
c.6002G>C (p.Arg2001Pro)
c.6506G>C (p.Arg2169Pro)
c.6401G>C (p.Arg2134Pro)
c.6188G>C (p.Arg2063Pro)
c.6131G>C (p.Arg2044Pro)
c.6047G>C (p.Arg2016Pro)
c.6032G>C (p.Arg2011Pro)
c.5936G>C (p.Arg1979Pro)
c.5927G>C (p.Arg1976Pro)
c.5909G>C (p.Arg1970Pro)
c.5903G>C (p.Arg1968Pro)
c.5876G>C (p.Arg1959Pro)
c.5870G>C (p.Arg1957Pro)
c.5852G>C (p.Arg1951Pro)
c.5846G>C (p.Arg1949Pro)
c.5843G>C (p.Arg1948Pro)
c.5819G>C (p.Arg1940Pro)
12g.2686169G=CA2012350955CACNA1C,CACNA1C-AS1c.5759G= (p.Arg1920=)
c.5789G= (p.Arg1930=)
c.5864G= (p.Arg1955=)
c.5897G= (p.Arg1966=)
c.5726G= (p.Arg1909=)
c.5774G= (p.Arg1925=)
c.6023G= (p.Arg2008=)
c.5651G= (p.Arg1884=)
c.5684G= (p.Arg1895=)
c.5675G= (p.Arg1892=)
c.5849G= (p.Arg1950=)
n.809G=
n.2187G=
n.814G=
c.5828G= (p.Arg1943=)
c.5807G= (p.Arg1936=)
c.5708G= (p.Arg1903=)
c.5744G= (p.Arg1915=)
c.5741G= (p.Arg1914=)
c.5735G= (p.Arg1912=)
c.5768G= (p.Arg1923=)
c.5702G= (p.Arg1901=)
c.5312G= (p.Arg1771=)
c.5456G= (p.Arg1819=)
c.5351G= (p.Arg1784=)
c.1757G= (p.Arg586=)
c.5387G= (p.Arg1796=)
c.5933G= (p.Arg1978=)
n.333+3971C=
c.5303G= (p.Arg1768=)
c.4748G= (p.Arg1583=)
c.2858G= (p.Arg953=)
c.6002G= (p.Arg2001=)
c.6506G= (p.Arg2169=)
c.6401G= (p.Arg2134=)
c.6188G= (p.Arg2063=)
c.6131G= (p.Arg2044=)
c.6047G= (p.Arg2016=)
c.6032G= (p.Arg2011=)
c.5936G= (p.Arg1979=)
c.5927G= (p.Arg1976=)
c.5909G= (p.Arg1970=)
c.5903G= (p.Arg1968=)
c.5876G= (p.Arg1959=)
c.5870G= (p.Arg1957=)
c.5852G= (p.Arg1951=)
c.5846G= (p.Arg1949=)
c.5843G= (p.Arg1948=)
c.5819G= (p.Arg1940=)
12g.2686169G>TCA383382443CACNA1C,CACNA1C-AS1c.5759G>T (p.Arg1920Leu)
c.5789G>T (p.Arg1930Leu)
c.5864G>T (p.Arg1955Leu)
c.5897G>T (p.Arg1966Leu)
c.5726G>T (p.Arg1909Leu)
c.5774G>T (p.Arg1925Leu)
c.6023G>T (p.Arg2008Leu)
c.5651G>T (p.Arg1884Leu)
c.5684G>T (p.Arg1895Leu)
c.5675G>T (p.Arg1892Leu)
c.5849G>T (p.Arg1950Leu)
n.809G>T
n.2187G>T
n.814G>T
c.5828G>T (p.Arg1943Leu)
c.5807G>T (p.Arg1936Leu)
c.5708G>T (p.Arg1903Leu)
c.5744G>T (p.Arg1915Leu)
c.5741G>T (p.Arg1914Leu)
c.5735G>T (p.Arg1912Leu)
c.5768G>T (p.Arg1923Leu)
c.5702G>T (p.Arg1901Leu)
c.5312G>T (p.Arg1771Leu)
c.5456G>T (p.Arg1819Leu)
c.5351G>T (p.Arg1784Leu)
c.1757G>T (p.Arg586Leu)
c.5387G>T (p.Arg1796Leu)
c.5933G>T (p.Arg1978Leu)
n.333+3971C>A
c.5303G>T (p.Arg1768Leu)
c.4748G>T (p.Arg1583Leu)
c.2858G>T (p.Arg953Leu)
c.6002G>T (p.Arg2001Leu)
c.6506G>T (p.Arg2169Leu)
c.6401G>T (p.Arg2134Leu)
c.6188G>T (p.Arg2063Leu)
c.6131G>T (p.Arg2044Leu)
c.6047G>T (p.Arg2016Leu)
c.6032G>T (p.Arg2011Leu)
c.5936G>T (p.Arg1979Leu)
c.5927G>T (p.Arg1976Leu)
c.5909G>T (p.Arg1970Leu)
c.5903G>T (p.Arg1968Leu)
c.5876G>T (p.Arg1959Leu)
c.5870G>T (p.Arg1957Leu)
c.5852G>T (p.Arg1951Leu)
c.5846G>T (p.Arg1949Leu)
c.5843G>T (p.Arg1948Leu)
c.5819G>T (p.Arg1940Leu)
12g.2686170A>CCA477902119CACNA1C,CACNA1C-AS1c.5760A>C (p.Arg1920=)
c.5790A>C (p.Arg1930=)
c.5865A>C (p.Arg1955=)
c.5898A>C (p.Arg1966=)
c.5727A>C (p.Arg1909=)
c.5775A>C (p.Arg1925=)
c.6024A>C (p.Arg2008=)
c.5652A>C (p.Arg1884=)
c.5685A>C (p.Arg1895=)
c.5676A>C (p.Arg1892=)
c.5850A>C (p.Arg1950=)
n.810A>C
n.2188A>C
n.815A>C
c.5829A>C (p.Arg1943=)
c.5808A>C (p.Arg1936=)
c.5709A>C (p.Arg1903=)
c.5745A>C (p.Arg1915=)
c.5742A>C (p.Arg1914=)
c.5736A>C (p.Arg1912=)
c.5769A>C (p.Arg1923=)
c.5703A>C (p.Arg1901=)
c.5313A>C (p.Arg1771=)
c.5457A>C (p.Arg1819=)
c.5352A>C (p.Arg1784=)
c.1758A>C (p.Arg586=)
c.5388A>C (p.Arg1796=)
c.5934A>C (p.Arg1978=)
n.333+3970T>G
c.5304A>C (p.Arg1768=)
c.4749A>C (p.Arg1583=)
c.2859A>C (p.Arg953=)
c.6003A>C (p.Arg2001=)
c.6507A>C (p.Arg2169=)
c.6402A>C (p.Arg2134=)
c.6189A>C (p.Arg2063=)
c.6132A>C (p.Arg2044=)
c.6048A>C (p.Arg2016=)
c.6033A>C (p.Arg2011=)
c.5937A>C (p.Arg1979=)
c.5928A>C (p.Arg1976=)
c.5910A>C (p.Arg1970=)
c.5904A>C (p.Arg1968=)
c.5877A>C (p.Arg1959=)
c.5871A>C (p.Arg1957=)
c.5853A>C (p.Arg1951=)
c.5847A>C (p.Arg1949=)
c.5844A>C (p.Arg1948=)
c.5820A>C (p.Arg1940=)
12g.2686170A>GCA477902122CACNA1C,CACNA1C-AS1c.5760A>G (p.Arg1920=)
c.5790A>G (p.Arg1930=)
c.5865A>G (p.Arg1955=)
c.5898A>G (p.Arg1966=)
c.5727A>G (p.Arg1909=)
c.5775A>G (p.Arg1925=)
c.6024A>G (p.Arg2008=)
c.5652A>G (p.Arg1884=)
c.5685A>G (p.Arg1895=)
c.5676A>G (p.Arg1892=)
c.5850A>G (p.Arg1950=)
n.810A>G
n.2188A>G
n.815A>G
c.5829A>G (p.Arg1943=)
c.5808A>G (p.Arg1936=)
c.5709A>G (p.Arg1903=)
c.5745A>G (p.Arg1915=)
c.5742A>G (p.Arg1914=)
c.5736A>G (p.Arg1912=)
c.5769A>G (p.Arg1923=)
c.5703A>G (p.Arg1901=)
c.5313A>G (p.Arg1771=)
c.5457A>G (p.Arg1819=)
c.5352A>G (p.Arg1784=)
c.1758A>G (p.Arg586=)
c.5388A>G (p.Arg1796=)
c.5934A>G (p.Arg1978=)
n.333+3970T>C
c.5304A>G (p.Arg1768=)
c.4749A>G (p.Arg1583=)
c.2859A>G (p.Arg953=)
c.6003A>G (p.Arg2001=)
c.6507A>G (p.Arg2169=)
c.6402A>G (p.Arg2134=)
c.6189A>G (p.Arg2063=)
c.6132A>G (p.Arg2044=)
c.6048A>G (p.Arg2016=)
c.6033A>G (p.Arg2011=)
c.5937A>G (p.Arg1979=)
c.5928A>G (p.Arg1976=)
c.5910A>G (p.Arg1970=)
c.5904A>G (p.Arg1968=)
c.5877A>G (p.Arg1959=)
c.5871A>G (p.Arg1957=)
c.5853A>G (p.Arg1951=)
c.5847A>G (p.Arg1949=)
c.5844A>G (p.Arg1948=)
c.5820A>G (p.Arg1940=)
12g.2686170A>TCA477902124CACNA1C,CACNA1C-AS1c.5760A>T (p.Arg1920=)
c.5790A>T (p.Arg1930=)
c.5865A>T (p.Arg1955=)
c.5898A>T (p.Arg1966=)
c.5727A>T (p.Arg1909=)
c.5775A>T (p.Arg1925=)
c.6024A>T (p.Arg2008=)
c.5652A>T (p.Arg1884=)
c.5685A>T (p.Arg1895=)
c.5676A>T (p.Arg1892=)
c.5850A>T (p.Arg1950=)
n.810A>T
n.2188A>T
n.815A>T
c.5829A>T (p.Arg1943=)
c.5808A>T (p.Arg1936=)
c.5709A>T (p.Arg1903=)
c.5745A>T (p.Arg1915=)
c.5742A>T (p.Arg1914=)
c.5736A>T (p.Arg1912=)
c.5769A>T (p.Arg1923=)
c.5703A>T (p.Arg1901=)
c.5313A>T (p.Arg1771=)
c.5457A>T (p.Arg1819=)
c.5352A>T (p.Arg1784=)
c.1758A>T (p.Arg586=)
c.5388A>T (p.Arg1796=)
c.5934A>T (p.Arg1978=)
n.333+3970T>A
c.5304A>T (p.Arg1768=)
c.4749A>T (p.Arg1583=)
c.2859A>T (p.Arg953=)
c.6003A>T (p.Arg2001=)
c.6507A>T (p.Arg2169=)
c.6402A>T (p.Arg2134=)
c.6189A>T (p.Arg2063=)
c.6132A>T (p.Arg2044=)
c.6048A>T (p.Arg2016=)
c.6033A>T (p.Arg2011=)
c.5937A>T (p.Arg1979=)
c.5928A>T (p.Arg1976=)
c.5910A>T (p.Arg1970=)
c.5904A>T (p.Arg1968=)
c.5877A>T (p.Arg1959=)
c.5871A>T (p.Arg1957=)
c.5853A>T (p.Arg1951=)
c.5847A>T (p.Arg1949=)
c.5844A>T (p.Arg1948=)
c.5820A>T (p.Arg1940=)
12g.2686171A>CCA477902129CACNA1C,CACNA1C-AS1c.5761A>C (p.Arg1921=)
c.5791A>C (p.Arg1931=)
c.5866A>C (p.Arg1956=)
c.5899A>C (p.Arg1967=)
c.5728A>C (p.Arg1910=)
c.5776A>C (p.Arg1926=)
c.6025A>C (p.Arg2009=)
c.5653A>C (p.Arg1885=)
c.5686A>C (p.Arg1896=)
c.5677A>C (p.Arg1893=)
c.5851A>C (p.Arg1951=)
n.811A>C
n.2189A>C
n.816A>C
c.5830A>C (p.Arg1944=)
c.5809A>C (p.Arg1937=)
c.5710A>C (p.Arg1904=)
c.5746A>C (p.Arg1916=)
c.5743A>C (p.Arg1915=)
c.5737A>C (p.Arg1913=)
c.5770A>C (p.Arg1924=)
c.5704A>C (p.Arg1902=)
c.5314A>C (p.Arg1772=)
c.5458A>C (p.Arg1820=)
c.5353A>C (p.Arg1785=)
c.1759A>C (p.Arg587=)
c.5389A>C (p.Arg1797=)
c.5935A>C (p.Arg1979=)
n.333+3969T>G
c.5305A>C (p.Arg1769=)
c.4750A>C (p.Arg1584=)
c.2860A>C (p.Arg954=)
c.6004A>C (p.Arg2002=)
c.6508A>C (p.Arg2170=)
c.6403A>C (p.Arg2135=)
c.6190A>C (p.Arg2064=)
c.6133A>C (p.Arg2045=)
c.6049A>C (p.Arg2017=)
c.6034A>C (p.Arg2012=)
c.5938A>C (p.Arg1980=)
c.5929A>C (p.Arg1977=)
c.5911A>C (p.Arg1971=)
c.5905A>C (p.Arg1969=)
c.5878A>C (p.Arg1960=)
c.5872A>C (p.Arg1958=)
c.5854A>C (p.Arg1952=)
c.5848A>C (p.Arg1950=)
c.5845A>C (p.Arg1949=)
c.5821A>C (p.Arg1941=)
12g.2686171A>GCA383382445CACNA1C,CACNA1C-AS1c.5761A>G (p.Arg1921Gly)
c.5791A>G (p.Arg1931Gly)
c.5866A>G (p.Arg1956Gly)
c.5899A>G (p.Arg1967Gly)
c.5728A>G (p.Arg1910Gly)
c.5776A>G (p.Arg1926Gly)
c.6025A>G (p.Arg2009Gly)
c.5653A>G (p.Arg1885Gly)
c.5686A>G (p.Arg1896Gly)
c.5677A>G (p.Arg1893Gly)
c.5851A>G (p.Arg1951Gly)
n.811A>G
n.2189A>G
n.816A>G
c.5830A>G (p.Arg1944Gly)
c.5809A>G (p.Arg1937Gly)
c.5710A>G (p.Arg1904Gly)
c.5746A>G (p.Arg1916Gly)
c.5743A>G (p.Arg1915Gly)
c.5737A>G (p.Arg1913Gly)
c.5770A>G (p.Arg1924Gly)
c.5704A>G (p.Arg1902Gly)
c.5314A>G (p.Arg1772Gly)
c.5458A>G (p.Arg1820Gly)
c.5353A>G (p.Arg1785Gly)
c.1759A>G (p.Arg587Gly)
c.5389A>G (p.Arg1797Gly)
c.5935A>G (p.Arg1979Gly)
n.333+3969T>C
c.5305A>G (p.Arg1769Gly)
c.4750A>G (p.Arg1584Gly)
c.2860A>G (p.Arg954Gly)
c.6004A>G (p.Arg2002Gly)
c.6508A>G (p.Arg2170Gly)
c.6403A>G (p.Arg2135Gly)
c.6190A>G (p.Arg2064Gly)
c.6133A>G (p.Arg2045Gly)
c.6049A>G (p.Arg2017Gly)
c.6034A>G (p.Arg2012Gly)
c.5938A>G (p.Arg1980Gly)
c.5929A>G (p.Arg1977Gly)
c.5911A>G (p.Arg1971Gly)
c.5905A>G (p.Arg1969Gly)
c.5878A>G (p.Arg1960Gly)
c.5872A>G (p.Arg1958Gly)
c.5854A>G (p.Arg1952Gly)
c.5848A>G (p.Arg1950Gly)
c.5845A>G (p.Arg1949Gly)
c.5821A>G (p.Arg1941Gly)
12g.2686171A>TCA383382447CACNA1C,CACNA1C-AS1c.5761A>T (p.Arg1921Trp)
c.5791A>T (p.Arg1931Trp)
c.5866A>T (p.Arg1956Trp)
c.5899A>T (p.Arg1967Trp)
c.5728A>T (p.Arg1910Trp)
c.5776A>T (p.Arg1926Trp)
c.6025A>T (p.Arg2009Trp)
c.5653A>T (p.Arg1885Trp)
c.5686A>T (p.Arg1896Trp)
c.5677A>T (p.Arg1893Trp)
c.5851A>T (p.Arg1951Trp)
n.811A>T
n.2189A>T
n.816A>T
c.5830A>T (p.Arg1944Trp)
c.5809A>T (p.Arg1937Trp)
c.5710A>T (p.Arg1904Trp)
c.5746A>T (p.Arg1916Trp)
c.5743A>T (p.Arg1915Trp)
c.5737A>T (p.Arg1913Trp)
c.5770A>T (p.Arg1924Trp)
c.5704A>T (p.Arg1902Trp)
c.5314A>T (p.Arg1772Trp)
c.5458A>T (p.Arg1820Trp)
c.5353A>T (p.Arg1785Trp)
c.1759A>T (p.Arg587Trp)
c.5389A>T (p.Arg1797Trp)
c.5935A>T (p.Arg1979Trp)
n.333+3969T>A
c.5305A>T (p.Arg1769Trp)
c.4750A>T (p.Arg1584Trp)
c.2860A>T (p.Arg954Trp)
c.6004A>T (p.Arg2002Trp)
c.6508A>T (p.Arg2170Trp)
c.6403A>T (p.Arg2135Trp)
c.6190A>T (p.Arg2064Trp)
c.6133A>T (p.Arg2045Trp)
c.6049A>T (p.Arg2017Trp)
c.6034A>T (p.Arg2012Trp)
c.5938A>T (p.Arg1980Trp)
c.5929A>T (p.Arg1977Trp)
c.5911A>T (p.Arg1971Trp)
c.5905A>T (p.Arg1969Trp)
c.5878A>T (p.Arg1960Trp)
c.5872A>T (p.Arg1958Trp)
c.5854A>T (p.Arg1952Trp)
c.5848A>T (p.Arg1950Trp)
c.5845A>T (p.Arg1949Trp)
c.5821A>T (p.Arg1941Trp)
12g.2686172G>ACA383382450CACNA1C,CACNA1C-AS1c.5762G>A (p.Arg1921Lys)
c.5792G>A (p.Arg1931Lys)
c.5867G>A (p.Arg1956Lys)
c.5900G>A (p.Arg1967Lys)
c.5729G>A (p.Arg1910Lys)
c.5777G>A (p.Arg1926Lys)
c.6026G>A (p.Arg2009Lys)
c.5654G>A (p.Arg1885Lys)
c.5687G>A (p.Arg1896Lys)
c.5678G>A (p.Arg1893Lys)
c.5852G>A (p.Arg1951Lys)
n.812G>A
n.2190G>A
n.817G>A
c.5831G>A (p.Arg1944Lys)
c.5810G>A (p.Arg1937Lys)
c.5711G>A (p.Arg1904Lys)
c.5747G>A (p.Arg1916Lys)
c.5744G>A (p.Arg1915Lys)
c.5738G>A (p.Arg1913Lys)
c.5771G>A (p.Arg1924Lys)
c.5705G>A (p.Arg1902Lys)
c.5315G>A (p.Arg1772Lys)
c.5459G>A (p.Arg1820Lys)
c.5354G>A (p.Arg1785Lys)
c.1760G>A (p.Arg587Lys)
c.5390G>A (p.Arg1797Lys)
c.5936G>A (p.Arg1979Lys)
n.333+3968C>T
c.5306G>A (p.Arg1769Lys)
c.4751G>A (p.Arg1584Lys)
c.2861G>A (p.Arg954Lys)
c.6005G>A (p.Arg2002Lys)
c.6509G>A (p.Arg2170Lys)
c.6404G>A (p.Arg2135Lys)
c.6191G>A (p.Arg2064Lys)
c.6134G>A (p.Arg2045Lys)
c.6050G>A (p.Arg2017Lys)
c.6035G>A (p.Arg2012Lys)
c.5939G>A (p.Arg1980Lys)
c.5930G>A (p.Arg1977Lys)
c.5912G>A (p.Arg1971Lys)
c.5906G>A (p.Arg1969Lys)
c.5879G>A (p.Arg1960Lys)
c.5873G>A (p.Arg1958Lys)
c.5855G>A (p.Arg1952Lys)
c.5849G>A (p.Arg1950Lys)
c.5846G>A (p.Arg1949Lys)
c.5822G>A (p.Arg1941Lys)
 ClinVar dbSNP gnomAD v4
12g.2686172G>CCA383382452CACNA1C,CACNA1C-AS1c.5762G>C (p.Arg1921Thr)
c.5792G>C (p.Arg1931Thr)
c.5867G>C (p.Arg1956Thr)
c.5900G>C (p.Arg1967Thr)
c.5729G>C (p.Arg1910Thr)
c.5777G>C (p.Arg1926Thr)
c.6026G>C (p.Arg2009Thr)
c.5654G>C (p.Arg1885Thr)
c.5687G>C (p.Arg1896Thr)
c.5678G>C (p.Arg1893Thr)
c.5852G>C (p.Arg1951Thr)
n.812G>C
n.2190G>C
n.817G>C
c.5831G>C (p.Arg1944Thr)
c.5810G>C (p.Arg1937Thr)
c.5711G>C (p.Arg1904Thr)
c.5747G>C (p.Arg1916Thr)
c.5744G>C (p.Arg1915Thr)
c.5738G>C (p.Arg1913Thr)
c.5771G>C (p.Arg1924Thr)
c.5705G>C (p.Arg1902Thr)
c.5315G>C (p.Arg1772Thr)
c.5459G>C (p.Arg1820Thr)
c.5354G>C (p.Arg1785Thr)
c.1760G>C (p.Arg587Thr)
c.5390G>C (p.Arg1797Thr)
c.5936G>C (p.Arg1979Thr)
n.333+3968C>G
c.5306G>C (p.Arg1769Thr)
c.4751G>C (p.Arg1584Thr)
c.2861G>C (p.Arg954Thr)
c.6005G>C (p.Arg2002Thr)
c.6509G>C (p.Arg2170Thr)
c.6404G>C (p.Arg2135Thr)
c.6191G>C (p.Arg2064Thr)
c.6134G>C (p.Arg2045Thr)
c.6050G>C (p.Arg2017Thr)
c.6035G>C (p.Arg2012Thr)
c.5939G>C (p.Arg1980Thr)
c.5930G>C (p.Arg1977Thr)
c.5912G>C (p.Arg1971Thr)
c.5906G>C (p.Arg1969Thr)
c.5879G>C (p.Arg1960Thr)
c.5873G>C (p.Arg1958Thr)
c.5855G>C (p.Arg1952Thr)
c.5849G>C (p.Arg1950Thr)
c.5846G>C (p.Arg1949Thr)
c.5822G>C (p.Arg1941Thr)
12g.2686172G>TCA383382453CACNA1C,CACNA1C-AS1c.5762G>T (p.Arg1921Met)
c.5792G>T (p.Arg1931Met)
c.5867G>T (p.Arg1956Met)
c.5900G>T (p.Arg1967Met)
c.5729G>T (p.Arg1910Met)
c.5777G>T (p.Arg1926Met)
c.6026G>T (p.Arg2009Met)
c.5654G>T (p.Arg1885Met)
c.5687G>T (p.Arg1896Met)
c.5678G>T (p.Arg1893Met)
c.5852G>T (p.Arg1951Met)
n.812G>T
n.2190G>T
n.817G>T
c.5831G>T (p.Arg1944Met)
c.5810G>T (p.Arg1937Met)
c.5711G>T (p.Arg1904Met)
c.5747G>T (p.Arg1916Met)
c.5744G>T (p.Arg1915Met)
c.5738G>T (p.Arg1913Met)
c.5771G>T (p.Arg1924Met)
c.5705G>T (p.Arg1902Met)
c.5315G>T (p.Arg1772Met)
c.5459G>T (p.Arg1820Met)
c.5354G>T (p.Arg1785Met)
c.1760G>T (p.Arg587Met)
c.5390G>T (p.Arg1797Met)
c.5936G>T (p.Arg1979Met)
n.333+3968C>A
c.5306G>T (p.Arg1769Met)
c.4751G>T (p.Arg1584Met)
c.2861G>T (p.Arg954Met)
c.6005G>T (p.Arg2002Met)
c.6509G>T (p.Arg2170Met)
c.6404G>T (p.Arg2135Met)
c.6191G>T (p.Arg2064Met)
c.6134G>T (p.Arg2045Met)
c.6050G>T (p.Arg2017Met)
c.6035G>T (p.Arg2012Met)
c.5939G>T (p.Arg1980Met)
c.5930G>T (p.Arg1977Met)
c.5912G>T (p.Arg1971Met)
c.5906G>T (p.Arg1969Met)
c.5879G>T (p.Arg1960Met)
c.5873G>T (p.Arg1958Met)
c.5855G>T (p.Arg1952Met)
c.5849G>T (p.Arg1950Met)
c.5846G>T (p.Arg1949Met)
c.5822G>T (p.Arg1941Met)
12g.2686173G>ACA6389952CACNA1C,CACNA1C-AS1c.5763G>A (p.Arg1921=)
c.5793G>A (p.Arg1931=)
c.5868G>A (p.Arg1956=)
c.5901G>A (p.Arg1967=)
c.5730G>A (p.Arg1910=)
c.5778G>A (p.Arg1926=)
c.6027G>A (p.Arg2009=)
c.5655G>A (p.Arg1885=)
c.5688G>A (p.Arg1896=)
c.5679G>A (p.Arg1893=)
c.5853G>A (p.Arg1951=)
n.813G>A
n.2191G>A
n.818G>A
c.5832G>A (p.Arg1944=)
c.5811G>A (p.Arg1937=)
c.5712G>A (p.Arg1904=)
c.5748G>A (p.Arg1916=)
c.5745G>A (p.Arg1915=)
c.5739G>A (p.Arg1913=)
c.5772G>A (p.Arg1924=)
c.5706G>A (p.Arg1902=)
c.5316G>A (p.Arg1772=)
c.5460G>A (p.Arg1820=)
c.5355G>A (p.Arg1785=)
c.1761G>A (p.Arg587=)
c.5391G>A (p.Arg1797=)
c.5937G>A (p.Arg1979=)
n.333+3967C>T
c.5307G>A (p.Arg1769=)
c.4752G>A (p.Arg1584=)
c.2862G>A (p.Arg954=)
c.6006G>A (p.Arg2002=)
c.6510G>A (p.Arg2170=)
c.6405G>A (p.Arg2135=)
c.6192G>A (p.Arg2064=)
c.6135G>A (p.Arg2045=)
c.6051G>A (p.Arg2017=)
c.6036G>A (p.Arg2012=)
c.5940G>A (p.Arg1980=)
c.5931G>A (p.Arg1977=)
c.5913G>A (p.Arg1971=)
c.5907G>A (p.Arg1969=)
c.5880G>A (p.Arg1960=)
c.5874G>A (p.Arg1958=)
c.5856G>A (p.Arg1952=)
c.5850G>A (p.Arg1950=)
c.5847G>A (p.Arg1949=)
c.5823G>A (p.Arg1941=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686173G>CCA383382456CACNA1C,CACNA1C-AS1c.5763G>C (p.Arg1921Ser)
c.5793G>C (p.Arg1931Ser)
c.5868G>C (p.Arg1956Ser)
c.5901G>C (p.Arg1967Ser)
c.5730G>C (p.Arg1910Ser)
c.5778G>C (p.Arg1926Ser)
c.6027G>C (p.Arg2009Ser)
c.5655G>C (p.Arg1885Ser)
c.5688G>C (p.Arg1896Ser)
c.5679G>C (p.Arg1893Ser)
c.5853G>C (p.Arg1951Ser)
n.813G>C
n.2191G>C
n.818G>C
c.5832G>C (p.Arg1944Ser)
c.5811G>C (p.Arg1937Ser)
c.5712G>C (p.Arg1904Ser)
c.5748G>C (p.Arg1916Ser)
c.5745G>C (p.Arg1915Ser)
c.5739G>C (p.Arg1913Ser)
c.5772G>C (p.Arg1924Ser)
c.5706G>C (p.Arg1902Ser)
c.5316G>C (p.Arg1772Ser)
c.5460G>C (p.Arg1820Ser)
c.5355G>C (p.Arg1785Ser)
c.1761G>C (p.Arg587Ser)
c.5391G>C (p.Arg1797Ser)
c.5937G>C (p.Arg1979Ser)
n.333+3967C>G
c.5307G>C (p.Arg1769Ser)
c.4752G>C (p.Arg1584Ser)
c.2862G>C (p.Arg954Ser)
c.6006G>C (p.Arg2002Ser)
c.6510G>C (p.Arg2170Ser)
c.6405G>C (p.Arg2135Ser)
c.6192G>C (p.Arg2064Ser)
c.6135G>C (p.Arg2045Ser)
c.6051G>C (p.Arg2017Ser)
c.6036G>C (p.Arg2012Ser)
c.5940G>C (p.Arg1980Ser)
c.5931G>C (p.Arg1977Ser)
c.5913G>C (p.Arg1971Ser)
c.5907G>C (p.Arg1969Ser)
c.5880G>C (p.Arg1960Ser)
c.5874G>C (p.Arg1958Ser)
c.5856G>C (p.Arg1952Ser)
c.5850G>C (p.Arg1950Ser)
c.5847G>C (p.Arg1949Ser)
c.5823G>C (p.Arg1941Ser)
12g.2686173G=CA2012350956CACNA1C,CACNA1C-AS1c.5763G= (p.Arg1921=)
c.5793G= (p.Arg1931=)
c.5868G= (p.Arg1956=)
c.5901G= (p.Arg1967=)
c.5730G= (p.Arg1910=)
c.5778G= (p.Arg1926=)
c.6027G= (p.Arg2009=)
c.5655G= (p.Arg1885=)
c.5688G= (p.Arg1896=)
c.5679G= (p.Arg1893=)
c.5853G= (p.Arg1951=)
n.813G=
n.2191G=
n.818G=
c.5832G= (p.Arg1944=)
c.5811G= (p.Arg1937=)
c.5712G= (p.Arg1904=)
c.5748G= (p.Arg1916=)
c.5745G= (p.Arg1915=)
c.5739G= (p.Arg1913=)
c.5772G= (p.Arg1924=)
c.5706G= (p.Arg1902=)
c.5316G= (p.Arg1772=)
c.5460G= (p.Arg1820=)
c.5355G= (p.Arg1785=)
c.1761G= (p.Arg587=)
c.5391G= (p.Arg1797=)
c.5937G= (p.Arg1979=)
n.333+3967C=
c.5307G= (p.Arg1769=)
c.4752G= (p.Arg1584=)
c.2862G= (p.Arg954=)
c.6006G= (p.Arg2002=)
c.6510G= (p.Arg2170=)
c.6405G= (p.Arg2135=)
c.6192G= (p.Arg2064=)
c.6135G= (p.Arg2045=)
c.6051G= (p.Arg2017=)
c.6036G= (p.Arg2012=)
c.5940G= (p.Arg1980=)
c.5931G= (p.Arg1977=)
c.5913G= (p.Arg1971=)
c.5907G= (p.Arg1969=)
c.5880G= (p.Arg1960=)
c.5874G= (p.Arg1958=)
c.5856G= (p.Arg1952=)
c.5850G= (p.Arg1950=)
c.5847G= (p.Arg1949=)
c.5823G= (p.Arg1941=)
12g.2686173G>TCA383382454CACNA1C,CACNA1C-AS1c.5763G>T (p.Arg1921Ser)
c.5793G>T (p.Arg1931Ser)
c.5868G>T (p.Arg1956Ser)
c.5901G>T (p.Arg1967Ser)
c.5730G>T (p.Arg1910Ser)
c.5778G>T (p.Arg1926Ser)
c.6027G>T (p.Arg2009Ser)
c.5655G>T (p.Arg1885Ser)
c.5688G>T (p.Arg1896Ser)
c.5679G>T (p.Arg1893Ser)
c.5853G>T (p.Arg1951Ser)
n.813G>T
n.2191G>T
n.818G>T
c.5832G>T (p.Arg1944Ser)
c.5811G>T (p.Arg1937Ser)
c.5712G>T (p.Arg1904Ser)
c.5748G>T (p.Arg1916Ser)
c.5745G>T (p.Arg1915Ser)
c.5739G>T (p.Arg1913Ser)
c.5772G>T (p.Arg1924Ser)
c.5706G>T (p.Arg1902Ser)
c.5316G>T (p.Arg1772Ser)
c.5460G>T (p.Arg1820Ser)
c.5355G>T (p.Arg1785Ser)
c.1761G>T (p.Arg587Ser)
c.5391G>T (p.Arg1797Ser)
c.5937G>T (p.Arg1979Ser)
n.333+3967C>A
c.5307G>T (p.Arg1769Ser)
c.4752G>T (p.Arg1584Ser)
c.2862G>T (p.Arg954Ser)
c.6006G>T (p.Arg2002Ser)
c.6510G>T (p.Arg2170Ser)
c.6405G>T (p.Arg2135Ser)
c.6192G>T (p.Arg2064Ser)
c.6135G>T (p.Arg2045Ser)
c.6051G>T (p.Arg2017Ser)
c.6036G>T (p.Arg2012Ser)
c.5940G>T (p.Arg1980Ser)
c.5931G>T (p.Arg1977Ser)
c.5913G>T (p.Arg1971Ser)
c.5907G>T (p.Arg1969Ser)
c.5880G>T (p.Arg1960Ser)
c.5874G>T (p.Arg1958Ser)
c.5856G>T (p.Arg1952Ser)
c.5850G>T (p.Arg1950Ser)
c.5847G>T (p.Arg1949Ser)
c.5823G>T (p.Arg1941Ser)
12g.2686174G>ACA383382462CACNA1C,CACNA1C-AS1c.5764G>A (p.Ala1922Thr)
c.5794G>A (p.Ala1932Thr)
c.5869G>A (p.Ala1957Thr)
c.5902G>A (p.Ala1968Thr)
c.5731G>A (p.Ala1911Thr)
c.5779G>A (p.Ala1927Thr)
c.6028G>A (p.Ala2010Thr)
c.5656G>A (p.Ala1886Thr)
c.5689G>A (p.Ala1897Thr)
c.5680G>A (p.Ala1894Thr)
c.5854G>A (p.Ala1952Thr)
n.814G>A
n.2192G>A
n.819G>A
c.5833G>A (p.Ala1945Thr)
c.5812G>A (p.Ala1938Thr)
c.5713G>A (p.Ala1905Thr)
c.5749G>A (p.Ala1917Thr)
c.5746G>A (p.Ala1916Thr)
c.5740G>A (p.Ala1914Thr)
c.5773G>A (p.Ala1925Thr)
c.5707G>A (p.Ala1903Thr)
c.5317G>A (p.Ala1773Thr)
c.5461G>A (p.Ala1821Thr)
c.5356G>A (p.Ala1786Thr)
c.1762G>A (p.Ala588Thr)
c.5392G>A (p.Ala1798Thr)
c.5938G>A (p.Ala1980Thr)
n.333+3966C>T
c.5308G>A (p.Ala1770Thr)
c.4753G>A (p.Ala1585Thr)
c.2863G>A (p.Ala955Thr)
c.6007G>A (p.Ala2003Thr)
c.6511G>A (p.Ala2171Thr)
c.6406G>A (p.Ala2136Thr)
c.6193G>A (p.Ala2065Thr)
c.6136G>A (p.Ala2046Thr)
c.6052G>A (p.Ala2018Thr)
c.6037G>A (p.Ala2013Thr)
c.5941G>A (p.Ala1981Thr)
c.5932G>A (p.Ala1978Thr)
c.5914G>A (p.Ala1972Thr)
c.5908G>A (p.Ala1970Thr)
c.5881G>A (p.Ala1961Thr)
c.5875G>A (p.Ala1959Thr)
c.5857G>A (p.Ala1953Thr)
c.5851G>A (p.Ala1951Thr)
c.5848G>A (p.Ala1950Thr)
c.5824G>A (p.Ala1942Thr)
12g.2686174G>CCA383382464CACNA1C,CACNA1C-AS1c.5764G>C (p.Ala1922Pro)
c.5794G>C (p.Ala1932Pro)
c.5869G>C (p.Ala1957Pro)
c.5902G>C (p.Ala1968Pro)
c.5731G>C (p.Ala1911Pro)
c.5779G>C (p.Ala1927Pro)
c.6028G>C (p.Ala2010Pro)
c.5656G>C (p.Ala1886Pro)
c.5689G>C (p.Ala1897Pro)
c.5680G>C (p.Ala1894Pro)
c.5854G>C (p.Ala1952Pro)
n.814G>C
n.2192G>C
n.819G>C
c.5833G>C (p.Ala1945Pro)
c.5812G>C (p.Ala1938Pro)
c.5713G>C (p.Ala1905Pro)
c.5749G>C (p.Ala1917Pro)
c.5746G>C (p.Ala1916Pro)
c.5740G>C (p.Ala1914Pro)
c.5773G>C (p.Ala1925Pro)
c.5707G>C (p.Ala1903Pro)
c.5317G>C (p.Ala1773Pro)
c.5461G>C (p.Ala1821Pro)
c.5356G>C (p.Ala1786Pro)
c.1762G>C (p.Ala588Pro)
c.5392G>C (p.Ala1798Pro)
c.5938G>C (p.Ala1980Pro)
n.333+3966C>G
c.5308G>C (p.Ala1770Pro)
c.4753G>C (p.Ala1585Pro)
c.2863G>C (p.Ala955Pro)
c.6007G>C (p.Ala2003Pro)
c.6511G>C (p.Ala2171Pro)
c.6406G>C (p.Ala2136Pro)
c.6193G>C (p.Ala2065Pro)
c.6136G>C (p.Ala2046Pro)
c.6052G>C (p.Ala2018Pro)
c.6037G>C (p.Ala2013Pro)
c.5941G>C (p.Ala1981Pro)
c.5932G>C (p.Ala1978Pro)
c.5914G>C (p.Ala1972Pro)
c.5908G>C (p.Ala1970Pro)
c.5881G>C (p.Ala1961Pro)
c.5875G>C (p.Ala1959Pro)
c.5857G>C (p.Ala1953Pro)
c.5851G>C (p.Ala1951Pro)
c.5848G>C (p.Ala1950Pro)
c.5824G>C (p.Ala1942Pro)
12g.2686174G>TCA383382466CACNA1C,CACNA1C-AS1c.5764G>T (p.Ala1922Ser)
c.5794G>T (p.Ala1932Ser)
c.5869G>T (p.Ala1957Ser)
c.5902G>T (p.Ala1968Ser)
c.5731G>T (p.Ala1911Ser)
c.5779G>T (p.Ala1927Ser)
c.6028G>T (p.Ala2010Ser)
c.5656G>T (p.Ala1886Ser)
c.5689G>T (p.Ala1897Ser)
c.5680G>T (p.Ala1894Ser)
c.5854G>T (p.Ala1952Ser)
n.814G>T
n.2192G>T
n.819G>T
c.5833G>T (p.Ala1945Ser)
c.5812G>T (p.Ala1938Ser)
c.5713G>T (p.Ala1905Ser)
c.5749G>T (p.Ala1917Ser)
c.5746G>T (p.Ala1916Ser)
c.5740G>T (p.Ala1914Ser)
c.5773G>T (p.Ala1925Ser)
c.5707G>T (p.Ala1903Ser)
c.5317G>T (p.Ala1773Ser)
c.5461G>T (p.Ala1821Ser)
c.5356G>T (p.Ala1786Ser)
c.1762G>T (p.Ala588Ser)
c.5392G>T (p.Ala1798Ser)
c.5938G>T (p.Ala1980Ser)
n.333+3966C>A
c.5308G>T (p.Ala1770Ser)
c.4753G>T (p.Ala1585Ser)
c.2863G>T (p.Ala955Ser)
c.6007G>T (p.Ala2003Ser)
c.6511G>T (p.Ala2171Ser)
c.6406G>T (p.Ala2136Ser)
c.6193G>T (p.Ala2065Ser)
c.6136G>T (p.Ala2046Ser)
c.6052G>T (p.Ala2018Ser)
c.6037G>T (p.Ala2013Ser)
c.5941G>T (p.Ala1981Ser)
c.5932G>T (p.Ala1978Ser)
c.5914G>T (p.Ala1972Ser)
c.5908G>T (p.Ala1970Ser)
c.5881G>T (p.Ala1961Ser)
c.5875G>T (p.Ala1959Ser)
c.5857G>T (p.Ala1953Ser)
c.5851G>T (p.Ala1951Ser)
c.5848G>T (p.Ala1950Ser)
c.5824G>T (p.Ala1942Ser)
12g.2686175C>ACA383382467CACNA1C,CACNA1C-AS1c.5765C>A (p.Ala1922Asp)
c.5795C>A (p.Ala1932Asp)
c.5870C>A (p.Ala1957Asp)
c.5903C>A (p.Ala1968Asp)
c.5732C>A (p.Ala1911Asp)
c.5780C>A (p.Ala1927Asp)
c.6029C>A (p.Ala2010Asp)
c.5657C>A (p.Ala1886Asp)
c.5690C>A (p.Ala1897Asp)
c.5681C>A (p.Ala1894Asp)
c.5855C>A (p.Ala1952Asp)
n.815C>A
n.2193C>A
n.820C>A
c.5834C>A (p.Ala1945Asp)
c.5813C>A (p.Ala1938Asp)
c.5714C>A (p.Ala1905Asp)
c.5750C>A (p.Ala1917Asp)
c.5747C>A (p.Ala1916Asp)
c.5741C>A (p.Ala1914Asp)
c.5774C>A (p.Ala1925Asp)
c.5708C>A (p.Ala1903Asp)
c.5318C>A (p.Ala1773Asp)
c.5462C>A (p.Ala1821Asp)
c.5357C>A (p.Ala1786Asp)
c.1763C>A (p.Ala588Asp)
c.5393C>A (p.Ala1798Asp)
c.5939C>A (p.Ala1980Asp)
n.333+3965G>T
c.5309C>A (p.Ala1770Asp)
c.4754C>A (p.Ala1585Asp)
c.2864C>A (p.Ala955Asp)
c.6008C>A (p.Ala2003Asp)
c.6512C>A (p.Ala2171Asp)
c.6407C>A (p.Ala2136Asp)
c.6194C>A (p.Ala2065Asp)
c.6137C>A (p.Ala2046Asp)
c.6053C>A (p.Ala2018Asp)
c.6038C>A (p.Ala2013Asp)
c.5942C>A (p.Ala1981Asp)
c.5933C>A (p.Ala1978Asp)
c.5915C>A (p.Ala1972Asp)
c.5909C>A (p.Ala1970Asp)
c.5882C>A (p.Ala1961Asp)
c.5876C>A (p.Ala1959Asp)
c.5858C>A (p.Ala1953Asp)
c.5852C>A (p.Ala1951Asp)
c.5849C>A (p.Ala1950Asp)
c.5825C>A (p.Ala1942Asp)
 COSMIC COSMIC COSMIC
12g.2686175C>GCA383382468CACNA1C,CACNA1C-AS1c.5765C>G (p.Ala1922Gly)
c.5795C>G (p.Ala1932Gly)
c.5870C>G (p.Ala1957Gly)
c.5903C>G (p.Ala1968Gly)
c.5732C>G (p.Ala1911Gly)
c.5780C>G (p.Ala1927Gly)
c.6029C>G (p.Ala2010Gly)
c.5657C>G (p.Ala1886Gly)
c.5690C>G (p.Ala1897Gly)
c.5681C>G (p.Ala1894Gly)
c.5855C>G (p.Ala1952Gly)
n.815C>G
n.2193C>G
n.820C>G
c.5834C>G (p.Ala1945Gly)
c.5813C>G (p.Ala1938Gly)
c.5714C>G (p.Ala1905Gly)
c.5750C>G (p.Ala1917Gly)
c.5747C>G (p.Ala1916Gly)
c.5741C>G (p.Ala1914Gly)
c.5774C>G (p.Ala1925Gly)
c.5708C>G (p.Ala1903Gly)
c.5318C>G (p.Ala1773Gly)
c.5462C>G (p.Ala1821Gly)
c.5357C>G (p.Ala1786Gly)
c.1763C>G (p.Ala588Gly)
c.5393C>G (p.Ala1798Gly)
c.5939C>G (p.Ala1980Gly)
n.333+3965G>C
c.5309C>G (p.Ala1770Gly)
c.4754C>G (p.Ala1585Gly)
c.2864C>G (p.Ala955Gly)
c.6008C>G (p.Ala2003Gly)
c.6512C>G (p.Ala2171Gly)
c.6407C>G (p.Ala2136Gly)
c.6194C>G (p.Ala2065Gly)
c.6137C>G (p.Ala2046Gly)
c.6053C>G (p.Ala2018Gly)
c.6038C>G (p.Ala2013Gly)
c.5942C>G (p.Ala1981Gly)
c.5933C>G (p.Ala1978Gly)
c.5915C>G (p.Ala1972Gly)
c.5909C>G (p.Ala1970Gly)
c.5882C>G (p.Ala1961Gly)
c.5876C>G (p.Ala1959Gly)
c.5858C>G (p.Ala1953Gly)
c.5852C>G (p.Ala1951Gly)
c.5849C>G (p.Ala1950Gly)
c.5825C>G (p.Ala1942Gly)
12g.2686175C>TCA383382469CACNA1C,CACNA1C-AS1c.5765C>T (p.Ala1922Val)
c.5795C>T (p.Ala1932Val)
c.5870C>T (p.Ala1957Val)
c.5903C>T (p.Ala1968Val)
c.5732C>T (p.Ala1911Val)
c.5780C>T (p.Ala1927Val)
c.6029C>T (p.Ala2010Val)
c.5657C>T (p.Ala1886Val)
c.5690C>T (p.Ala1897Val)
c.5681C>T (p.Ala1894Val)
c.5855C>T (p.Ala1952Val)
n.815C>T
n.2193C>T
n.820C>T
c.5834C>T (p.Ala1945Val)
c.5813C>T (p.Ala1938Val)
c.5714C>T (p.Ala1905Val)
c.5750C>T (p.Ala1917Val)
c.5747C>T (p.Ala1916Val)
c.5741C>T (p.Ala1914Val)
c.5774C>T (p.Ala1925Val)
c.5708C>T (p.Ala1903Val)
c.5318C>T (p.Ala1773Val)
c.5462C>T (p.Ala1821Val)
c.5357C>T (p.Ala1786Val)
c.1763C>T (p.Ala588Val)
c.5393C>T (p.Ala1798Val)
c.5939C>T (p.Ala1980Val)
n.333+3965G>A
c.5309C>T (p.Ala1770Val)
c.4754C>T (p.Ala1585Val)
c.2864C>T (p.Ala955Val)
c.6008C>T (p.Ala2003Val)
c.6512C>T (p.Ala2171Val)
c.6407C>T (p.Ala2136Val)
c.6194C>T (p.Ala2065Val)
c.6137C>T (p.Ala2046Val)
c.6053C>T (p.Ala2018Val)
c.6038C>T (p.Ala2013Val)
c.5942C>T (p.Ala1981Val)
c.5933C>T (p.Ala1978Val)
c.5915C>T (p.Ala1972Val)
c.5909C>T (p.Ala1970Val)
c.5882C>T (p.Ala1961Val)
c.5876C>T (p.Ala1959Val)
c.5858C>T (p.Ala1953Val)
c.5852C>T (p.Ala1951Val)
c.5849C>T (p.Ala1950Val)
c.5825C>T (p.Ala1942Val)
12g.2686176C>ACA477902155CACNA1C,CACNA1C-AS1c.5766C>A (p.Ala1922=)
c.5796C>A (p.Ala1932=)
c.5871C>A (p.Ala1957=)
c.5904C>A (p.Ala1968=)
c.5733C>A (p.Ala1911=)
c.5781C>A (p.Ala1927=)
c.6030C>A (p.Ala2010=)
c.5658C>A (p.Ala1886=)
c.5691C>A (p.Ala1897=)
c.5682C>A (p.Ala1894=)
c.5856C>A (p.Ala1952=)
n.816C>A
n.2194C>A
n.821C>A
c.5835C>A (p.Ala1945=)
c.5814C>A (p.Ala1938=)
c.5715C>A (p.Ala1905=)
c.5751C>A (p.Ala1917=)
c.5748C>A (p.Ala1916=)
c.5742C>A (p.Ala1914=)
c.5775C>A (p.Ala1925=)
c.5709C>A (p.Ala1903=)
c.5319C>A (p.Ala1773=)
c.5463C>A (p.Ala1821=)
c.5358C>A (p.Ala1786=)
c.1764C>A (p.Ala588=)
c.5394C>A (p.Ala1798=)
c.5940C>A (p.Ala1980=)
n.333+3964G>T
c.5310C>A (p.Ala1770=)
c.4755C>A (p.Ala1585=)
c.2865C>A (p.Ala955=)
c.6009C>A (p.Ala2003=)
c.6513C>A (p.Ala2171=)
c.6408C>A (p.Ala2136=)
c.6195C>A (p.Ala2065=)
c.6138C>A (p.Ala2046=)
c.6054C>A (p.Ala2018=)
c.6039C>A (p.Ala2013=)
c.5943C>A (p.Ala1981=)
c.5934C>A (p.Ala1978=)
c.5916C>A (p.Ala1972=)
c.5910C>A (p.Ala1970=)
c.5883C>A (p.Ala1961=)
c.5877C>A (p.Ala1959=)
c.5859C>A (p.Ala1953=)
c.5853C>A (p.Ala1951=)
c.5850C>A (p.Ala1950=)
c.5826C>A (p.Ala1942=)
12g.2686176C>GCA477902152CACNA1C,CACNA1C-AS1c.5766C>G (p.Ala1922=)
c.5796C>G (p.Ala1932=)
c.5871C>G (p.Ala1957=)
c.5904C>G (p.Ala1968=)
c.5733C>G (p.Ala1911=)
c.5781C>G (p.Ala1927=)
c.6030C>G (p.Ala2010=)
c.5658C>G (p.Ala1886=)
c.5691C>G (p.Ala1897=)
c.5682C>G (p.Ala1894=)
c.5856C>G (p.Ala1952=)
n.816C>G
n.2194C>G
n.821C>G
c.5835C>G (p.Ala1945=)
c.5814C>G (p.Ala1938=)
c.5715C>G (p.Ala1905=)
c.5751C>G (p.Ala1917=)
c.5748C>G (p.Ala1916=)
c.5742C>G (p.Ala1914=)
c.5775C>G (p.Ala1925=)
c.5709C>G (p.Ala1903=)
c.5319C>G (p.Ala1773=)
c.5463C>G (p.Ala1821=)
c.5358C>G (p.Ala1786=)
c.1764C>G (p.Ala588=)
c.5394C>G (p.Ala1798=)
c.5940C>G (p.Ala1980=)
n.333+3964G>C
c.5310C>G (p.Ala1770=)
c.4755C>G (p.Ala1585=)
c.2865C>G (p.Ala955=)
c.6009C>G (p.Ala2003=)
c.6513C>G (p.Ala2171=)
c.6408C>G (p.Ala2136=)
c.6195C>G (p.Ala2065=)
c.6138C>G (p.Ala2046=)
c.6054C>G (p.Ala2018=)
c.6039C>G (p.Ala2013=)
c.5943C>G (p.Ala1981=)
c.5934C>G (p.Ala1978=)
c.5916C>G (p.Ala1972=)
c.5910C>G (p.Ala1970=)
c.5883C>G (p.Ala1961=)
c.5877C>G (p.Ala1959=)
c.5859C>G (p.Ala1953=)
c.5853C>G (p.Ala1951=)
c.5850C>G (p.Ala1950=)
c.5826C>G (p.Ala1942=)
12g.2686176C>TCA477902149CACNA1C,CACNA1C-AS1c.5766C>T (p.Ala1922=)
c.5796C>T (p.Ala1932=)
c.5871C>T (p.Ala1957=)
c.5904C>T (p.Ala1968=)
c.5733C>T (p.Ala1911=)
c.5781C>T (p.Ala1927=)
c.6030C>T (p.Ala2010=)
c.5658C>T (p.Ala1886=)
c.5691C>T (p.Ala1897=)
c.5682C>T (p.Ala1894=)
c.5856C>T (p.Ala1952=)
n.816C>T
n.2194C>T
n.821C>T
c.5835C>T (p.Ala1945=)
c.5814C>T (p.Ala1938=)
c.5715C>T (p.Ala1905=)
c.5751C>T (p.Ala1917=)
c.5748C>T (p.Ala1916=)
c.5742C>T (p.Ala1914=)
c.5775C>T (p.Ala1925=)
c.5709C>T (p.Ala1903=)
c.5319C>T (p.Ala1773=)
c.5463C>T (p.Ala1821=)
c.5358C>T (p.Ala1786=)
c.1764C>T (p.Ala588=)
c.5394C>T (p.Ala1798=)
c.5940C>T (p.Ala1980=)
n.333+3964G>A
c.5310C>T (p.Ala1770=)
c.4755C>T (p.Ala1585=)
c.2865C>T (p.Ala955=)
c.6009C>T (p.Ala2003=)
c.6513C>T (p.Ala2171=)
c.6408C>T (p.Ala2136=)
c.6195C>T (p.Ala2065=)
c.6138C>T (p.Ala2046=)
c.6054C>T (p.Ala2018=)
c.6039C>T (p.Ala2013=)
c.5943C>T (p.Ala1981=)
c.5934C>T (p.Ala1978=)
c.5916C>T (p.Ala1972=)
c.5910C>T (p.Ala1970=)
c.5883C>T (p.Ala1961=)
c.5877C>T (p.Ala1959=)
c.5859C>T (p.Ala1953=)
c.5853C>T (p.Ala1951=)
c.5850C>T (p.Ala1950=)
c.5826C>T (p.Ala1942=)
 ClinVar
12g.2686177T>ACA383382476CACNA1C,CACNA1C-AS1c.5767T>A (p.Ser1923Thr)
c.5797T>A (p.Ser1933Thr)
c.5872T>A (p.Ser1958Thr)
c.5905T>A (p.Ser1969Thr)
c.5734T>A (p.Ser1912Thr)
c.5782T>A (p.Ser1928Thr)
c.6031T>A (p.Ser2011Thr)
c.5659T>A (p.Ser1887Thr)
c.5692T>A (p.Ser1898Thr)
c.5683T>A (p.Ser1895Thr)
c.5857T>A (p.Ser1953Thr)
n.817T>A
n.2195T>A
n.822T>A
c.5836T>A (p.Ser1946Thr)
c.5815T>A (p.Ser1939Thr)
c.5716T>A (p.Ser1906Thr)
c.5752T>A (p.Ser1918Thr)
c.5749T>A (p.Ser1917Thr)
c.5743T>A (p.Ser1915Thr)
c.5776T>A (p.Ser1926Thr)
c.5710T>A (p.Ser1904Thr)
c.5320T>A (p.Ser1774Thr)
c.5464T>A (p.Ser1822Thr)
c.5359T>A (p.Ser1787Thr)
c.1765T>A (p.Ser589Thr)
c.5395T>A (p.Ser1799Thr)
c.5941T>A (p.Ser1981Thr)
n.333+3963A>T
c.5311T>A (p.Ser1771Thr)
c.4756T>A (p.Ser1586Thr)
c.2866T>A (p.Ser956Thr)
c.6010T>A (p.Ser2004Thr)
c.6514T>A (p.Ser2172Thr)
c.6409T>A (p.Ser2137Thr)
c.6196T>A (p.Ser2066Thr)
c.6139T>A (p.Ser2047Thr)
c.6055T>A (p.Ser2019Thr)
c.6040T>A (p.Ser2014Thr)
c.5944T>A (p.Ser1982Thr)
c.5935T>A (p.Ser1979Thr)
c.5917T>A (p.Ser1973Thr)
c.5911T>A (p.Ser1971Thr)
c.5884T>A (p.Ser1962Thr)
c.5878T>A (p.Ser1960Thr)
c.5860T>A (p.Ser1954Thr)
c.5854T>A (p.Ser1952Thr)
c.5851T>A (p.Ser1951Thr)
c.5827T>A (p.Ser1943Thr)
12g.2686177T>CCA383382477CACNA1C,CACNA1C-AS1c.5767T>C (p.Ser1923Pro)
c.5797T>C (p.Ser1933Pro)
c.5872T>C (p.Ser1958Pro)
c.5905T>C (p.Ser1969Pro)
c.5734T>C (p.Ser1912Pro)
c.5782T>C (p.Ser1928Pro)
c.6031T>C (p.Ser2011Pro)
c.5659T>C (p.Ser1887Pro)
c.5692T>C (p.Ser1898Pro)
c.5683T>C (p.Ser1895Pro)
c.5857T>C (p.Ser1953Pro)
n.817T>C
n.2195T>C
n.822T>C
c.5836T>C (p.Ser1946Pro)
c.5815T>C (p.Ser1939Pro)
c.5716T>C (p.Ser1906Pro)
c.5752T>C (p.Ser1918Pro)
c.5749T>C (p.Ser1917Pro)
c.5743T>C (p.Ser1915Pro)
c.5776T>C (p.Ser1926Pro)
c.5710T>C (p.Ser1904Pro)
c.5320T>C (p.Ser1774Pro)
c.5464T>C (p.Ser1822Pro)
c.5359T>C (p.Ser1787Pro)
c.1765T>C (p.Ser589Pro)
c.5395T>C (p.Ser1799Pro)
c.5941T>C (p.Ser1981Pro)
n.333+3963A>G
c.5311T>C (p.Ser1771Pro)
c.4756T>C (p.Ser1586Pro)
c.2866T>C (p.Ser956Pro)
c.6010T>C (p.Ser2004Pro)
c.6514T>C (p.Ser2172Pro)
c.6409T>C (p.Ser2137Pro)
c.6196T>C (p.Ser2066Pro)
c.6139T>C (p.Ser2047Pro)
c.6055T>C (p.Ser2019Pro)
c.6040T>C (p.Ser2014Pro)
c.5944T>C (p.Ser1982Pro)
c.5935T>C (p.Ser1979Pro)
c.5917T>C (p.Ser1973Pro)
c.5911T>C (p.Ser1971Pro)
c.5884T>C (p.Ser1962Pro)
c.5878T>C (p.Ser1960Pro)
c.5860T>C (p.Ser1954Pro)
c.5854T>C (p.Ser1952Pro)
c.5851T>C (p.Ser1951Pro)
c.5827T>C (p.Ser1943Pro)
 ClinVar dbSNP
12g.2686177T>GCA383382478CACNA1C,CACNA1C-AS1c.5767T>G (p.Ser1923Ala)
c.5797T>G (p.Ser1933Ala)
c.5872T>G (p.Ser1958Ala)
c.5905T>G (p.Ser1969Ala)
c.5734T>G (p.Ser1912Ala)
c.5782T>G (p.Ser1928Ala)
c.6031T>G (p.Ser2011Ala)
c.5659T>G (p.Ser1887Ala)
c.5692T>G (p.Ser1898Ala)
c.5683T>G (p.Ser1895Ala)
c.5857T>G (p.Ser1953Ala)
n.817T>G
n.2195T>G
n.822T>G
c.5836T>G (p.Ser1946Ala)
c.5815T>G (p.Ser1939Ala)
c.5716T>G (p.Ser1906Ala)
c.5752T>G (p.Ser1918Ala)
c.5749T>G (p.Ser1917Ala)
c.5743T>G (p.Ser1915Ala)
c.5776T>G (p.Ser1926Ala)
c.5710T>G (p.Ser1904Ala)
c.5320T>G (p.Ser1774Ala)
c.5464T>G (p.Ser1822Ala)
c.5359T>G (p.Ser1787Ala)
c.1765T>G (p.Ser589Ala)
c.5395T>G (p.Ser1799Ala)
c.5941T>G (p.Ser1981Ala)
n.333+3963A>C
c.5311T>G (p.Ser1771Ala)
c.4756T>G (p.Ser1586Ala)
c.2866T>G (p.Ser956Ala)
c.6010T>G (p.Ser2004Ala)
c.6514T>G (p.Ser2172Ala)
c.6409T>G (p.Ser2137Ala)
c.6196T>G (p.Ser2066Ala)
c.6139T>G (p.Ser2047Ala)
c.6055T>G (p.Ser2019Ala)
c.6040T>G (p.Ser2014Ala)
c.5944T>G (p.Ser1982Ala)
c.5935T>G (p.Ser1979Ala)
c.5917T>G (p.Ser1973Ala)
c.5911T>G (p.Ser1971Ala)
c.5884T>G (p.Ser1962Ala)
c.5878T>G (p.Ser1960Ala)
c.5860T>G (p.Ser1954Ala)
c.5854T>G (p.Ser1952Ala)
c.5851T>G (p.Ser1951Ala)
c.5827T>G (p.Ser1943Ala)
12g.2686177T=CA2012350957CACNA1C,CACNA1C-AS1c.5767T= (p.Ser1923=)
c.5797T= (p.Ser1933=)
c.5872T= (p.Ser1958=)
c.5905T= (p.Ser1969=)
c.5734T= (p.Ser1912=)
c.5782T= (p.Ser1928=)
c.6031T= (p.Ser2011=)
c.5659T= (p.Ser1887=)
c.5692T= (p.Ser1898=)
c.5683T= (p.Ser1895=)
c.5857T= (p.Ser1953=)
n.817T=
n.2195T=
n.822T=
c.5836T= (p.Ser1946=)
c.5815T= (p.Ser1939=)
c.5716T= (p.Ser1906=)
c.5752T= (p.Ser1918=)
c.5749T= (p.Ser1917=)
c.5743T= (p.Ser1915=)
c.5776T= (p.Ser1926=)
c.5710T= (p.Ser1904=)
c.5320T= (p.Ser1774=)
c.5464T= (p.Ser1822=)
c.5359T= (p.Ser1787=)
c.1765T= (p.Ser589=)
c.5395T= (p.Ser1799=)
c.5941T= (p.Ser1981=)
n.333+3963A=
c.5311T= (p.Ser1771=)
c.4756T= (p.Ser1586=)
c.2866T= (p.Ser956=)
c.6010T= (p.Ser2004=)
c.6514T= (p.Ser2172=)
c.6409T= (p.Ser2137=)
c.6196T= (p.Ser2066=)
c.6139T= (p.Ser2047=)
c.6055T= (p.Ser2019=)
c.6040T= (p.Ser2014=)
c.5944T= (p.Ser1982=)
c.5935T= (p.Ser1979=)
c.5917T= (p.Ser1973=)
c.5911T= (p.Ser1971=)
c.5884T= (p.Ser1962=)
c.5878T= (p.Ser1960=)
c.5860T= (p.Ser1954=)
c.5854T= (p.Ser1952=)
c.5851T= (p.Ser1951=)
c.5827T= (p.Ser1943=)
12g.2686178C>ACA383382480CACNA1C,CACNA1C-AS1c.5768C>A (p.Ser1923Tyr)
c.5798C>A (p.Ser1933Tyr)
c.5873C>A (p.Ser1958Tyr)
c.5906C>A (p.Ser1969Tyr)
c.5735C>A (p.Ser1912Tyr)
c.5783C>A (p.Ser1928Tyr)
c.6032C>A (p.Ser2011Tyr)
c.5660C>A (p.Ser1887Tyr)
c.5693C>A (p.Ser1898Tyr)
c.5684C>A (p.Ser1895Tyr)
c.5858C>A (p.Ser1953Tyr)
n.818C>A
n.2196C>A
n.823C>A
c.5837C>A (p.Ser1946Tyr)
c.5816C>A (p.Ser1939Tyr)
c.5717C>A (p.Ser1906Tyr)
c.5753C>A (p.Ser1918Tyr)
c.5750C>A (p.Ser1917Tyr)
c.5744C>A (p.Ser1915Tyr)
c.5777C>A (p.Ser1926Tyr)
c.5711C>A (p.Ser1904Tyr)
c.5321C>A (p.Ser1774Tyr)
c.5465C>A (p.Ser1822Tyr)
c.5360C>A (p.Ser1787Tyr)
c.1766C>A (p.Ser589Tyr)
c.5396C>A (p.Ser1799Tyr)
c.5942C>A (p.Ser1981Tyr)
n.333+3962G>T
c.5312C>A (p.Ser1771Tyr)
c.4757C>A (p.Ser1586Tyr)
c.2867C>A (p.Ser956Tyr)
c.6011C>A (p.Ser2004Tyr)
c.6515C>A (p.Ser2172Tyr)
c.6410C>A (p.Ser2137Tyr)
c.6197C>A (p.Ser2066Tyr)
c.6140C>A (p.Ser2047Tyr)
c.6056C>A (p.Ser2019Tyr)
c.6041C>A (p.Ser2014Tyr)
c.5945C>A (p.Ser1982Tyr)
c.5936C>A (p.Ser1979Tyr)
c.5918C>A (p.Ser1973Tyr)
c.5912C>A (p.Ser1971Tyr)
c.5885C>A (p.Ser1962Tyr)
c.5879C>A (p.Ser1960Tyr)
c.5861C>A (p.Ser1954Tyr)
c.5855C>A (p.Ser1952Tyr)
c.5852C>A (p.Ser1951Tyr)
c.5828C>A (p.Ser1943Tyr)
12g.2686178C=CA2012350958CACNA1C,CACNA1C-AS1c.5768C= (p.Ser1923=)
c.5798C= (p.Ser1933=)
c.5873C= (p.Ser1958=)
c.5906C= (p.Ser1969=)
c.5735C= (p.Ser1912=)
c.5783C= (p.Ser1928=)
c.6032C= (p.Ser2011=)
c.5660C= (p.Ser1887=)
c.5693C= (p.Ser1898=)
c.5684C= (p.Ser1895=)
c.5858C= (p.Ser1953=)
n.818C=
n.2196C=
n.823C=
c.5837C= (p.Ser1946=)
c.5816C= (p.Ser1939=)
c.5717C= (p.Ser1906=)
c.5753C= (p.Ser1918=)
c.5750C= (p.Ser1917=)
c.5744C= (p.Ser1915=)
c.5777C= (p.Ser1926=)
c.5711C= (p.Ser1904=)
c.5321C= (p.Ser1774=)
c.5465C= (p.Ser1822=)
c.5360C= (p.Ser1787=)
c.1766C= (p.Ser589=)
c.5396C= (p.Ser1799=)
c.5942C= (p.Ser1981=)
n.333+3962G=
c.5312C= (p.Ser1771=)
c.4757C= (p.Ser1586=)
c.2867C= (p.Ser956=)
c.6011C= (p.Ser2004=)
c.6515C= (p.Ser2172=)
c.6410C= (p.Ser2137=)
c.6197C= (p.Ser2066=)
c.6140C= (p.Ser2047=)
c.6056C= (p.Ser2019=)
c.6041C= (p.Ser2014=)
c.5945C= (p.Ser1982=)
c.5936C= (p.Ser1979=)
c.5918C= (p.Ser1973=)
c.5912C= (p.Ser1971=)
c.5885C= (p.Ser1962=)
c.5879C= (p.Ser1960=)
c.5861C= (p.Ser1954=)
c.5855C= (p.Ser1952=)
c.5852C= (p.Ser1951=)
c.5828C= (p.Ser1943=)
12g.2686178C>GCA383382482CACNA1C,CACNA1C-AS1c.5768C>G (p.Ser1923Cys)
c.5798C>G (p.Ser1933Cys)
c.5873C>G (p.Ser1958Cys)
c.5906C>G (p.Ser1969Cys)
c.5735C>G (p.Ser1912Cys)
c.5783C>G (p.Ser1928Cys)
c.6032C>G (p.Ser2011Cys)
c.5660C>G (p.Ser1887Cys)
c.5693C>G (p.Ser1898Cys)
c.5684C>G (p.Ser1895Cys)
c.5858C>G (p.Ser1953Cys)
n.818C>G
n.2196C>G
n.823C>G
c.5837C>G (p.Ser1946Cys)
c.5816C>G (p.Ser1939Cys)
c.5717C>G (p.Ser1906Cys)
c.5753C>G (p.Ser1918Cys)
c.5750C>G (p.Ser1917Cys)
c.5744C>G (p.Ser1915Cys)
c.5777C>G (p.Ser1926Cys)
c.5711C>G (p.Ser1904Cys)
c.5321C>G (p.Ser1774Cys)
c.5465C>G (p.Ser1822Cys)
c.5360C>G (p.Ser1787Cys)
c.1766C>G (p.Ser589Cys)
c.5396C>G (p.Ser1799Cys)
c.5942C>G (p.Ser1981Cys)
n.333+3962G>C
c.5312C>G (p.Ser1771Cys)
c.4757C>G (p.Ser1586Cys)
c.2867C>G (p.Ser956Cys)
c.6011C>G (p.Ser2004Cys)
c.6515C>G (p.Ser2172Cys)
c.6410C>G (p.Ser2137Cys)
c.6197C>G (p.Ser2066Cys)
c.6140C>G (p.Ser2047Cys)
c.6056C>G (p.Ser2019Cys)
c.6041C>G (p.Ser2014Cys)
c.5945C>G (p.Ser1982Cys)
c.5936C>G (p.Ser1979Cys)
c.5918C>G (p.Ser1973Cys)
c.5912C>G (p.Ser1971Cys)
c.5885C>G (p.Ser1962Cys)
c.5879C>G (p.Ser1960Cys)
c.5861C>G (p.Ser1954Cys)
c.5855C>G (p.Ser1952Cys)
c.5852C>G (p.Ser1951Cys)
c.5828C>G (p.Ser1943Cys)
12g.2686178C>TCA383382486CACNA1C,CACNA1C-AS1c.5768C>T (p.Ser1923Phe)
c.5798C>T (p.Ser1933Phe)
c.5873C>T (p.Ser1958Phe)
c.5906C>T (p.Ser1969Phe)
c.5735C>T (p.Ser1912Phe)
c.5783C>T (p.Ser1928Phe)
c.6032C>T (p.Ser2011Phe)
c.5660C>T (p.Ser1887Phe)
c.5693C>T (p.Ser1898Phe)
c.5684C>T (p.Ser1895Phe)
c.5858C>T (p.Ser1953Phe)
n.818C>T
n.2196C>T
n.823C>T
c.5837C>T (p.Ser1946Phe)
c.5816C>T (p.Ser1939Phe)
c.5717C>T (p.Ser1906Phe)
c.5753C>T (p.Ser1918Phe)
c.5750C>T (p.Ser1917Phe)
c.5744C>T (p.Ser1915Phe)
c.5777C>T (p.Ser1926Phe)
c.5711C>T (p.Ser1904Phe)
c.5321C>T (p.Ser1774Phe)
c.5465C>T (p.Ser1822Phe)
c.5360C>T (p.Ser1787Phe)
c.1766C>T (p.Ser589Phe)
c.5396C>T (p.Ser1799Phe)
c.5942C>T (p.Ser1981Phe)
n.333+3962G>A
c.5312C>T (p.Ser1771Phe)
c.4757C>T (p.Ser1586Phe)
c.2867C>T (p.Ser956Phe)
c.6011C>T (p.Ser2004Phe)
c.6515C>T (p.Ser2172Phe)
c.6410C>T (p.Ser2137Phe)
c.6197C>T (p.Ser2066Phe)
c.6140C>T (p.Ser2047Phe)
c.6056C>T (p.Ser2019Phe)
c.6041C>T (p.Ser2014Phe)
c.5945C>T (p.Ser1982Phe)
c.5936C>T (p.Ser1979Phe)
c.5918C>T (p.Ser1973Phe)
c.5912C>T (p.Ser1971Phe)
c.5885C>T (p.Ser1962Phe)
c.5879C>T (p.Ser1960Phe)
c.5861C>T (p.Ser1954Phe)
c.5855C>T (p.Ser1952Phe)
c.5852C>T (p.Ser1951Phe)
c.5828C>T (p.Ser1943Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686179C>ACA477902164CACNA1C,CACNA1C-AS1c.5769C>A (p.Ser1923=)
c.5799C>A (p.Ser1933=)
c.5874C>A (p.Ser1958=)
c.5907C>A (p.Ser1969=)
c.5736C>A (p.Ser1912=)
c.5784C>A (p.Ser1928=)
c.6033C>A (p.Ser2011=)
c.5661C>A (p.Ser1887=)
c.5694C>A (p.Ser1898=)
c.5685C>A (p.Ser1895=)
c.5859C>A (p.Ser1953=)
n.819C>A
n.2197C>A
n.824C>A
c.5838C>A (p.Ser1946=)
c.5817C>A (p.Ser1939=)
c.5718C>A (p.Ser1906=)
c.5754C>A (p.Ser1918=)
c.5751C>A (p.Ser1917=)
c.5745C>A (p.Ser1915=)
c.5778C>A (p.Ser1926=)
c.5712C>A (p.Ser1904=)
c.5322C>A (p.Ser1774=)
c.5466C>A (p.Ser1822=)
c.5361C>A (p.Ser1787=)
c.1767C>A (p.Ser589=)
c.5397C>A (p.Ser1799=)
c.5943C>A (p.Ser1981=)
n.333+3961G>T
c.5313C>A (p.Ser1771=)
c.4758C>A (p.Ser1586=)
c.2868C>A (p.Ser956=)
c.6012C>A (p.Ser2004=)
c.6516C>A (p.Ser2172=)
c.6411C>A (p.Ser2137=)
c.6198C>A (p.Ser2066=)
c.6141C>A (p.Ser2047=)
c.6057C>A (p.Ser2019=)
c.6042C>A (p.Ser2014=)
c.5946C>A (p.Ser1982=)
c.5937C>A (p.Ser1979=)
c.5919C>A (p.Ser1973=)
c.5913C>A (p.Ser1971=)
c.5886C>A (p.Ser1962=)
c.5880C>A (p.Ser1960=)
c.5862C>A (p.Ser1954=)
c.5856C>A (p.Ser1952=)
c.5853C>A (p.Ser1951=)
c.5829C>A (p.Ser1943=)
12g.2686179C>GCA477902162CACNA1C,CACNA1C-AS1c.5769C>G (p.Ser1923=)
c.5799C>G (p.Ser1933=)
c.5874C>G (p.Ser1958=)
c.5907C>G (p.Ser1969=)
c.5736C>G (p.Ser1912=)
c.5784C>G (p.Ser1928=)
c.6033C>G (p.Ser2011=)
c.5661C>G (p.Ser1887=)
c.5694C>G (p.Ser1898=)
c.5685C>G (p.Ser1895=)
c.5859C>G (p.Ser1953=)
n.819C>G
n.2197C>G
n.824C>G
c.5838C>G (p.Ser1946=)
c.5817C>G (p.Ser1939=)
c.5718C>G (p.Ser1906=)
c.5754C>G (p.Ser1918=)
c.5751C>G (p.Ser1917=)
c.5745C>G (p.Ser1915=)
c.5778C>G (p.Ser1926=)
c.5712C>G (p.Ser1904=)
c.5322C>G (p.Ser1774=)
c.5466C>G (p.Ser1822=)
c.5361C>G (p.Ser1787=)
c.1767C>G (p.Ser589=)
c.5397C>G (p.Ser1799=)
c.5943C>G (p.Ser1981=)
n.333+3961G>C
c.5313C>G (p.Ser1771=)
c.4758C>G (p.Ser1586=)
c.2868C>G (p.Ser956=)
c.6012C>G (p.Ser2004=)
c.6516C>G (p.Ser2172=)
c.6411C>G (p.Ser2137=)
c.6198C>G (p.Ser2066=)
c.6141C>G (p.Ser2047=)
c.6057C>G (p.Ser2019=)
c.6042C>G (p.Ser2014=)
c.5946C>G (p.Ser1982=)
c.5937C>G (p.Ser1979=)
c.5919C>G (p.Ser1973=)
c.5913C>G (p.Ser1971=)
c.5886C>G (p.Ser1962=)
c.5880C>G (p.Ser1960=)
c.5862C>G (p.Ser1954=)
c.5856C>G (p.Ser1952=)
c.5853C>G (p.Ser1951=)
c.5829C>G (p.Ser1943=)
12g.2686179C>TCA477902166CACNA1C,CACNA1C-AS1c.5769C>T (p.Ser1923=)
c.5799C>T (p.Ser1933=)
c.5874C>T (p.Ser1958=)
c.5907C>T (p.Ser1969=)
c.5736C>T (p.Ser1912=)
c.5784C>T (p.Ser1928=)
c.6033C>T (p.Ser2011=)
c.5661C>T (p.Ser1887=)
c.5694C>T (p.Ser1898=)
c.5685C>T (p.Ser1895=)
c.5859C>T (p.Ser1953=)
n.819C>T
n.2197C>T
n.824C>T
c.5838C>T (p.Ser1946=)
c.5817C>T (p.Ser1939=)
c.5718C>T (p.Ser1906=)
c.5754C>T (p.Ser1918=)
c.5751C>T (p.Ser1917=)
c.5745C>T (p.Ser1915=)
c.5778C>T (p.Ser1926=)
c.5712C>T (p.Ser1904=)
c.5322C>T (p.Ser1774=)
c.5466C>T (p.Ser1822=)
c.5361C>T (p.Ser1787=)
c.1767C>T (p.Ser589=)
c.5397C>T (p.Ser1799=)
c.5943C>T (p.Ser1981=)
n.333+3961G>A
c.5313C>T (p.Ser1771=)
c.4758C>T (p.Ser1586=)
c.2868C>T (p.Ser956=)
c.6012C>T (p.Ser2004=)
c.6516C>T (p.Ser2172=)
c.6411C>T (p.Ser2137=)
c.6198C>T (p.Ser2066=)
c.6141C>T (p.Ser2047=)
c.6057C>T (p.Ser2019=)
c.6042C>T (p.Ser2014=)
c.5946C>T (p.Ser1982=)
c.5937C>T (p.Ser1979=)
c.5919C>T (p.Ser1973=)
c.5913C>T (p.Ser1971=)
c.5886C>T (p.Ser1962=)
c.5880C>T (p.Ser1960=)
c.5862C>T (p.Ser1954=)
c.5856C>T (p.Ser1952=)
c.5853C>T (p.Ser1951=)
c.5829C>T (p.Ser1943=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686180T>ACA383382494CACNA1C,CACNA1C-AS1c.5770T>A (p.Phe1924Ile)
c.5800T>A (p.Phe1934Ile)
c.5875T>A (p.Phe1959Ile)
c.5908T>A (p.Phe1970Ile)
c.5737T>A (p.Phe1913Ile)
c.5785T>A (p.Phe1929Ile)
c.6034T>A (p.Phe2012Ile)
c.5662T>A (p.Phe1888Ile)
c.5695T>A (p.Phe1899Ile)
c.5686T>A (p.Phe1896Ile)
c.5860T>A (p.Phe1954Ile)
n.820T>A
n.2198T>A
n.825T>A
c.5839T>A (p.Phe1947Ile)
c.5818T>A (p.Phe1940Ile)
c.5719T>A (p.Phe1907Ile)
c.5755T>A (p.Phe1919Ile)
c.5752T>A (p.Phe1918Ile)
c.5746T>A (p.Phe1916Ile)
c.5779T>A (p.Phe1927Ile)
c.5713T>A (p.Phe1905Ile)
c.5323T>A (p.Phe1775Ile)
c.5467T>A (p.Phe1823Ile)
c.5362T>A (p.Phe1788Ile)
c.1768T>A (p.Phe590Ile)
c.5398T>A (p.Phe1800Ile)
c.5944T>A (p.Phe1982Ile)
n.333+3960A>T
c.5314T>A (p.Phe1772Ile)
c.4759T>A (p.Phe1587Ile)
c.2869T>A (p.Phe957Ile)
c.6013T>A (p.Phe2005Ile)
c.6517T>A (p.Phe2173Ile)
c.6412T>A (p.Phe2138Ile)
c.6199T>A (p.Phe2067Ile)
c.6142T>A (p.Phe2048Ile)
c.6058T>A (p.Phe2020Ile)
c.6043T>A (p.Phe2015Ile)
c.5947T>A (p.Phe1983Ile)
c.5938T>A (p.Phe1980Ile)
c.5920T>A (p.Phe1974Ile)
c.5914T>A (p.Phe1972Ile)
c.5887T>A (p.Phe1963Ile)
c.5881T>A (p.Phe1961Ile)
c.5863T>A (p.Phe1955Ile)
c.5857T>A (p.Phe1953Ile)
c.5854T>A (p.Phe1952Ile)
c.5830T>A (p.Phe1944Ile)
12g.2686180T>CCA383382490CACNA1C,CACNA1C-AS1c.5770T>C (p.Phe1924Leu)
c.5800T>C (p.Phe1934Leu)
c.5875T>C (p.Phe1959Leu)
c.5908T>C (p.Phe1970Leu)
c.5737T>C (p.Phe1913Leu)
c.5785T>C (p.Phe1929Leu)
c.6034T>C (p.Phe2012Leu)
c.5662T>C (p.Phe1888Leu)
c.5695T>C (p.Phe1899Leu)
c.5686T>C (p.Phe1896Leu)
c.5860T>C (p.Phe1954Leu)
n.820T>C
n.2198T>C
n.825T>C
c.5839T>C (p.Phe1947Leu)
c.5818T>C (p.Phe1940Leu)
c.5719T>C (p.Phe1907Leu)
c.5755T>C (p.Phe1919Leu)
c.5752T>C (p.Phe1918Leu)
c.5746T>C (p.Phe1916Leu)
c.5779T>C (p.Phe1927Leu)
c.5713T>C (p.Phe1905Leu)
c.5323T>C (p.Phe1775Leu)
c.5467T>C (p.Phe1823Leu)
c.5362T>C (p.Phe1788Leu)
c.1768T>C (p.Phe590Leu)
c.5398T>C (p.Phe1800Leu)
c.5944T>C (p.Phe1982Leu)
n.333+3960A>G
c.5314T>C (p.Phe1772Leu)
c.4759T>C (p.Phe1587Leu)
c.2869T>C (p.Phe957Leu)
c.6013T>C (p.Phe2005Leu)
c.6517T>C (p.Phe2173Leu)
c.6412T>C (p.Phe2138Leu)
c.6199T>C (p.Phe2067Leu)
c.6142T>C (p.Phe2048Leu)
c.6058T>C (p.Phe2020Leu)
c.6043T>C (p.Phe2015Leu)
c.5947T>C (p.Phe1983Leu)
c.5938T>C (p.Phe1980Leu)
c.5920T>C (p.Phe1974Leu)
c.5914T>C (p.Phe1972Leu)
c.5887T>C (p.Phe1963Leu)
c.5881T>C (p.Phe1961Leu)
c.5863T>C (p.Phe1955Leu)
c.5857T>C (p.Phe1953Leu)
c.5854T>C (p.Phe1952Leu)
c.5830T>C (p.Phe1944Leu)
12g.2686180T>GCA383382488CACNA1C,CACNA1C-AS1c.5770T>G (p.Phe1924Val)
c.5800T>G (p.Phe1934Val)
c.5875T>G (p.Phe1959Val)
c.5908T>G (p.Phe1970Val)
c.5737T>G (p.Phe1913Val)
c.5785T>G (p.Phe1929Val)
c.6034T>G (p.Phe2012Val)
c.5662T>G (p.Phe1888Val)
c.5695T>G (p.Phe1899Val)
c.5686T>G (p.Phe1896Val)
c.5860T>G (p.Phe1954Val)
n.820T>G
n.2198T>G
n.825T>G
c.5839T>G (p.Phe1947Val)
c.5818T>G (p.Phe1940Val)
c.5719T>G (p.Phe1907Val)
c.5755T>G (p.Phe1919Val)
c.5752T>G (p.Phe1918Val)
c.5746T>G (p.Phe1916Val)
c.5779T>G (p.Phe1927Val)
c.5713T>G (p.Phe1905Val)
c.5323T>G (p.Phe1775Val)
c.5467T>G (p.Phe1823Val)
c.5362T>G (p.Phe1788Val)
c.1768T>G (p.Phe590Val)
c.5398T>G (p.Phe1800Val)
c.5944T>G (p.Phe1982Val)
n.333+3960A>C
c.5314T>G (p.Phe1772Val)
c.4759T>G (p.Phe1587Val)
c.2869T>G (p.Phe957Val)
c.6013T>G (p.Phe2005Val)
c.6517T>G (p.Phe2173Val)
c.6412T>G (p.Phe2138Val)
c.6199T>G (p.Phe2067Val)
c.6142T>G (p.Phe2048Val)
c.6058T>G (p.Phe2020Val)
c.6043T>G (p.Phe2015Val)
c.5947T>G (p.Phe1983Val)
c.5938T>G (p.Phe1980Val)
c.5920T>G (p.Phe1974Val)
c.5914T>G (p.Phe1972Val)
c.5887T>G (p.Phe1963Val)
c.5881T>G (p.Phe1961Val)
c.5863T>G (p.Phe1955Val)
c.5857T>G (p.Phe1953Val)
c.5854T>G (p.Phe1952Val)
c.5830T>G (p.Phe1944Val)
12g.2686181T>ACA383382495CACNA1C,CACNA1C-AS1c.5771T>A (p.Phe1924Tyr)
c.5801T>A (p.Phe1934Tyr)
c.5876T>A (p.Phe1959Tyr)
c.5909T>A (p.Phe1970Tyr)
c.5738T>A (p.Phe1913Tyr)
c.5786T>A (p.Phe1929Tyr)
c.6035T>A (p.Phe2012Tyr)
c.5663T>A (p.Phe1888Tyr)
c.5696T>A (p.Phe1899Tyr)
c.5687T>A (p.Phe1896Tyr)
c.5861T>A (p.Phe1954Tyr)
n.821T>A
n.2199T>A
n.826T>A
c.5840T>A (p.Phe1947Tyr)
c.5819T>A (p.Phe1940Tyr)
c.5720T>A (p.Phe1907Tyr)
c.5756T>A (p.Phe1919Tyr)
c.5753T>A (p.Phe1918Tyr)
c.5747T>A (p.Phe1916Tyr)
c.5780T>A (p.Phe1927Tyr)
c.5714T>A (p.Phe1905Tyr)
c.5324T>A (p.Phe1775Tyr)
c.5468T>A (p.Phe1823Tyr)
c.5363T>A (p.Phe1788Tyr)
c.1769T>A (p.Phe590Tyr)
c.5399T>A (p.Phe1800Tyr)
c.5945T>A (p.Phe1982Tyr)
n.333+3959A>T
c.5315T>A (p.Phe1772Tyr)
c.4760T>A (p.Phe1587Tyr)
c.2870T>A (p.Phe957Tyr)
c.6014T>A (p.Phe2005Tyr)
c.6518T>A (p.Phe2173Tyr)
c.6413T>A (p.Phe2138Tyr)
c.6200T>A (p.Phe2067Tyr)
c.6143T>A (p.Phe2048Tyr)
c.6059T>A (p.Phe2020Tyr)
c.6044T>A (p.Phe2015Tyr)
c.5948T>A (p.Phe1983Tyr)
c.5939T>A (p.Phe1980Tyr)
c.5921T>A (p.Phe1974Tyr)
c.5915T>A (p.Phe1972Tyr)
c.5888T>A (p.Phe1963Tyr)
c.5882T>A (p.Phe1961Tyr)
c.5864T>A (p.Phe1955Tyr)
c.5858T>A (p.Phe1953Tyr)
c.5855T>A (p.Phe1952Tyr)
c.5831T>A (p.Phe1944Tyr)
12g.2686181T>CCA383382497CACNA1C,CACNA1C-AS1c.5771T>C (p.Phe1924Ser)
c.5801T>C (p.Phe1934Ser)
c.5876T>C (p.Phe1959Ser)
c.5909T>C (p.Phe1970Ser)
c.5738T>C (p.Phe1913Ser)
c.5786T>C (p.Phe1929Ser)
c.6035T>C (p.Phe2012Ser)
c.5663T>C (p.Phe1888Ser)
c.5696T>C (p.Phe1899Ser)
c.5687T>C (p.Phe1896Ser)
c.5861T>C (p.Phe1954Ser)
n.821T>C
n.2199T>C
n.826T>C
c.5840T>C (p.Phe1947Ser)
c.5819T>C (p.Phe1940Ser)
c.5720T>C (p.Phe1907Ser)
c.5756T>C (p.Phe1919Ser)
c.5753T>C (p.Phe1918Ser)
c.5747T>C (p.Phe1916Ser)
c.5780T>C (p.Phe1927Ser)
c.5714T>C (p.Phe1905Ser)
c.5324T>C (p.Phe1775Ser)
c.5468T>C (p.Phe1823Ser)
c.5363T>C (p.Phe1788Ser)
c.1769T>C (p.Phe590Ser)
c.5399T>C (p.Phe1800Ser)
c.5945T>C (p.Phe1982Ser)
n.333+3959A>G
c.5315T>C (p.Phe1772Ser)
c.4760T>C (p.Phe1587Ser)
c.2870T>C (p.Phe957Ser)
c.6014T>C (p.Phe2005Ser)
c.6518T>C (p.Phe2173Ser)
c.6413T>C (p.Phe2138Ser)
c.6200T>C (p.Phe2067Ser)
c.6143T>C (p.Phe2048Ser)
c.6059T>C (p.Phe2020Ser)
c.6044T>C (p.Phe2015Ser)
c.5948T>C (p.Phe1983Ser)
c.5939T>C (p.Phe1980Ser)
c.5921T>C (p.Phe1974Ser)
c.5915T>C (p.Phe1972Ser)
c.5888T>C (p.Phe1963Ser)
c.5882T>C (p.Phe1961Ser)
c.5864T>C (p.Phe1955Ser)
c.5858T>C (p.Phe1953Ser)
c.5855T>C (p.Phe1952Ser)
c.5831T>C (p.Phe1944Ser)
 gnomAD v4
12g.2686181T>GCA383382499CACNA1C,CACNA1C-AS1c.5771T>G (p.Phe1924Cys)
c.5801T>G (p.Phe1934Cys)
c.5876T>G (p.Phe1959Cys)
c.5909T>G (p.Phe1970Cys)
c.5738T>G (p.Phe1913Cys)
c.5786T>G (p.Phe1929Cys)
c.6035T>G (p.Phe2012Cys)
c.5663T>G (p.Phe1888Cys)
c.5696T>G (p.Phe1899Cys)
c.5687T>G (p.Phe1896Cys)
c.5861T>G (p.Phe1954Cys)
n.821T>G
n.2199T>G
n.826T>G
c.5840T>G (p.Phe1947Cys)
c.5819T>G (p.Phe1940Cys)
c.5720T>G (p.Phe1907Cys)
c.5756T>G (p.Phe1919Cys)
c.5753T>G (p.Phe1918Cys)
c.5747T>G (p.Phe1916Cys)
c.5780T>G (p.Phe1927Cys)
c.5714T>G (p.Phe1905Cys)
c.5324T>G (p.Phe1775Cys)
c.5468T>G (p.Phe1823Cys)
c.5363T>G (p.Phe1788Cys)
c.1769T>G (p.Phe590Cys)
c.5399T>G (p.Phe1800Cys)
c.5945T>G (p.Phe1982Cys)
n.333+3959A>C
c.5315T>G (p.Phe1772Cys)
c.4760T>G (p.Phe1587Cys)
c.2870T>G (p.Phe957Cys)
c.6014T>G (p.Phe2005Cys)
c.6518T>G (p.Phe2173Cys)
c.6413T>G (p.Phe2138Cys)
c.6200T>G (p.Phe2067Cys)
c.6143T>G (p.Phe2048Cys)
c.6059T>G (p.Phe2020Cys)
c.6044T>G (p.Phe2015Cys)
c.5948T>G (p.Phe1983Cys)
c.5939T>G (p.Phe1980Cys)
c.5921T>G (p.Phe1974Cys)
c.5915T>G (p.Phe1972Cys)
c.5888T>G (p.Phe1963Cys)
c.5882T>G (p.Phe1961Cys)
c.5864T>G (p.Phe1955Cys)
c.5858T>G (p.Phe1953Cys)
c.5855T>G (p.Phe1952Cys)
c.5831T>G (p.Phe1944Cys)
12g.2686182C>ACA383382502CACNA1C,CACNA1C-AS1c.5772C>A (p.Phe1924Leu)
c.5802C>A (p.Phe1934Leu)
c.5877C>A (p.Phe1959Leu)
c.5910C>A (p.Phe1970Leu)
c.5739C>A (p.Phe1913Leu)
c.5787C>A (p.Phe1929Leu)
c.6036C>A (p.Phe2012Leu)
c.5664C>A (p.Phe1888Leu)
c.5697C>A (p.Phe1899Leu)
c.5688C>A (p.Phe1896Leu)
c.5862C>A (p.Phe1954Leu)
n.822C>A
n.2200C>A
n.827C>A
c.5841C>A (p.Phe1947Leu)
c.5820C>A (p.Phe1940Leu)
c.5721C>A (p.Phe1907Leu)
c.5757C>A (p.Phe1919Leu)
c.5754C>A (p.Phe1918Leu)
c.5748C>A (p.Phe1916Leu)
c.5781C>A (p.Phe1927Leu)
c.5715C>A (p.Phe1905Leu)
c.5325C>A (p.Phe1775Leu)
c.5469C>A (p.Phe1823Leu)
c.5364C>A (p.Phe1788Leu)
c.1770C>A (p.Phe590Leu)
c.5400C>A (p.Phe1800Leu)
c.5946C>A (p.Phe1982Leu)
n.333+3958G>T
c.5316C>A (p.Phe1772Leu)
c.4761C>A (p.Phe1587Leu)
c.2871C>A (p.Phe957Leu)
c.6015C>A (p.Phe2005Leu)
c.6519C>A (p.Phe2173Leu)
c.6414C>A (p.Phe2138Leu)
c.6201C>A (p.Phe2067Leu)
c.6144C>A (p.Phe2048Leu)
c.6060C>A (p.Phe2020Leu)
c.6045C>A (p.Phe2015Leu)
c.5949C>A (p.Phe1983Leu)
c.5940C>A (p.Phe1980Leu)
c.5922C>A (p.Phe1974Leu)
c.5916C>A (p.Phe1972Leu)
c.5889C>A (p.Phe1963Leu)
c.5883C>A (p.Phe1961Leu)
c.5865C>A (p.Phe1955Leu)
c.5859C>A (p.Phe1953Leu)
c.5856C>A (p.Phe1952Leu)
c.5832C>A (p.Phe1944Leu)
12g.2686182C>GCA383382504CACNA1C,CACNA1C-AS1c.5772C>G (p.Phe1924Leu)
c.5802C>G (p.Phe1934Leu)
c.5877C>G (p.Phe1959Leu)
c.5910C>G (p.Phe1970Leu)
c.5739C>G (p.Phe1913Leu)
c.5787C>G (p.Phe1929Leu)
c.6036C>G (p.Phe2012Leu)
c.5664C>G (p.Phe1888Leu)
c.5697C>G (p.Phe1899Leu)
c.5688C>G (p.Phe1896Leu)
c.5862C>G (p.Phe1954Leu)
n.822C>G
n.2200C>G
n.827C>G
c.5841C>G (p.Phe1947Leu)
c.5820C>G (p.Phe1940Leu)
c.5721C>G (p.Phe1907Leu)
c.5757C>G (p.Phe1919Leu)
c.5754C>G (p.Phe1918Leu)
c.5748C>G (p.Phe1916Leu)
c.5781C>G (p.Phe1927Leu)
c.5715C>G (p.Phe1905Leu)
c.5325C>G (p.Phe1775Leu)
c.5469C>G (p.Phe1823Leu)
c.5364C>G (p.Phe1788Leu)
c.1770C>G (p.Phe590Leu)
c.5400C>G (p.Phe1800Leu)
c.5946C>G (p.Phe1982Leu)
n.333+3958G>C
c.5316C>G (p.Phe1772Leu)
c.4761C>G (p.Phe1587Leu)
c.2871C>G (p.Phe957Leu)
c.6015C>G (p.Phe2005Leu)
c.6519C>G (p.Phe2173Leu)
c.6414C>G (p.Phe2138Leu)
c.6201C>G (p.Phe2067Leu)
c.6144C>G (p.Phe2048Leu)
c.6060C>G (p.Phe2020Leu)
c.6045C>G (p.Phe2015Leu)
c.5949C>G (p.Phe1983Leu)
c.5940C>G (p.Phe1980Leu)
c.5922C>G (p.Phe1974Leu)
c.5916C>G (p.Phe1972Leu)
c.5889C>G (p.Phe1963Leu)
c.5883C>G (p.Phe1961Leu)
c.5865C>G (p.Phe1955Leu)
c.5859C>G (p.Phe1953Leu)
c.5856C>G (p.Phe1952Leu)
c.5832C>G (p.Phe1944Leu)
12g.2686182C>TCA477902192CACNA1C,CACNA1C-AS1c.5772C>T (p.Phe1924=)
c.5802C>T (p.Phe1934=)
c.5877C>T (p.Phe1959=)
c.5910C>T (p.Phe1970=)
c.5739C>T (p.Phe1913=)
c.5787C>T (p.Phe1929=)
c.6036C>T (p.Phe2012=)
c.5664C>T (p.Phe1888=)
c.5697C>T (p.Phe1899=)
c.5688C>T (p.Phe1896=)
c.5862C>T (p.Phe1954=)
n.822C>T
n.2200C>T
n.827C>T
c.5841C>T (p.Phe1947=)
c.5820C>T (p.Phe1940=)
c.5721C>T (p.Phe1907=)
c.5757C>T (p.Phe1919=)
c.5754C>T (p.Phe1918=)
c.5748C>T (p.Phe1916=)
c.5781C>T (p.Phe1927=)
c.5715C>T (p.Phe1905=)
c.5325C>T (p.Phe1775=)
c.5469C>T (p.Phe1823=)
c.5364C>T (p.Phe1788=)
c.1770C>T (p.Phe590=)
c.5400C>T (p.Phe1800=)
c.5946C>T (p.Phe1982=)
n.333+3958G>A
c.5316C>T (p.Phe1772=)
c.4761C>T (p.Phe1587=)
c.2871C>T (p.Phe957=)
c.6015C>T (p.Phe2005=)
c.6519C>T (p.Phe2173=)
c.6414C>T (p.Phe2138=)
c.6201C>T (p.Phe2067=)
c.6144C>T (p.Phe2048=)
c.6060C>T (p.Phe2020=)
c.6045C>T (p.Phe2015=)
c.5949C>T (p.Phe1983=)
c.5940C>T (p.Phe1980=)
c.5922C>T (p.Phe1974=)
c.5916C>T (p.Phe1972=)
c.5889C>T (p.Phe1963=)
c.5883C>T (p.Phe1961=)
c.5865C>T (p.Phe1955=)
c.5859C>T (p.Phe1953=)
c.5856C>T (p.Phe1952=)
c.5832C>T (p.Phe1944=)
12g.2686183C>ACA383382507CACNA1C,CACNA1C-AS1c.5773C>A (p.His1925Asn)
c.5803C>A (p.His1935Asn)
c.5878C>A (p.His1960Asn)
c.5911C>A (p.His1971Asn)
c.5740C>A (p.His1914Asn)
c.5788C>A (p.His1930Asn)
c.6037C>A (p.His2013Asn)
c.5665C>A (p.His1889Asn)
c.5698C>A (p.His1900Asn)
c.5689C>A (p.His1897Asn)
c.5863C>A (p.His1955Asn)
n.823C>A
n.2201C>A
n.828C>A
c.5842C>A (p.His1948Asn)
c.5821C>A (p.His1941Asn)
c.5722C>A (p.His1908Asn)
c.5758C>A (p.His1920Asn)
c.5755C>A (p.His1919Asn)
c.5749C>A (p.His1917Asn)
c.5782C>A (p.His1928Asn)
c.5716C>A (p.His1906Asn)
c.5326C>A (p.His1776Asn)
c.5470C>A (p.His1824Asn)
c.5365C>A (p.His1789Asn)
c.1771C>A (p.His591Asn)
c.5401C>A (p.His1801Asn)
c.5947C>A (p.His1983Asn)
n.333+3957G>T
c.5317C>A (p.His1773Asn)
c.4762C>A (p.His1588Asn)
c.2872C>A (p.His958Asn)
c.6016C>A (p.His2006Asn)
c.6520C>A (p.His2174Asn)
c.6415C>A (p.His2139Asn)
c.6202C>A (p.His2068Asn)
c.6145C>A (p.His2049Asn)
c.6061C>A (p.His2021Asn)
c.6046C>A (p.His2016Asn)
c.5950C>A (p.His1984Asn)
c.5941C>A (p.His1981Asn)
c.5923C>A (p.His1975Asn)
c.5917C>A (p.His1973Asn)
c.5890C>A (p.His1964Asn)
c.5884C>A (p.His1962Asn)
c.5866C>A (p.His1956Asn)
c.5860C>A (p.His1954Asn)
c.5857C>A (p.His1953Asn)
c.5833C>A (p.His1945Asn)
12g.2686183C=CA2012350959CACNA1C,CACNA1C-AS1c.5773C= (p.His1925=)
c.5803C= (p.His1935=)
c.5878C= (p.His1960=)
c.5911C= (p.His1971=)
c.5740C= (p.His1914=)
c.5788C= (p.His1930=)
c.6037C= (p.His2013=)
c.5665C= (p.His1889=)
c.5698C= (p.His1900=)
c.5689C= (p.His1897=)
c.5863C= (p.His1955=)
n.823C=
n.2201C=
n.828C=
c.5842C= (p.His1948=)
c.5821C= (p.His1941=)
c.5722C= (p.His1908=)
c.5758C= (p.His1920=)
c.5755C= (p.His1919=)
c.5749C= (p.His1917=)
c.5782C= (p.His1928=)
c.5716C= (p.His1906=)
c.5326C= (p.His1776=)
c.5470C= (p.His1824=)
c.5365C= (p.His1789=)
c.1771C= (p.His591=)
c.5401C= (p.His1801=)
c.5947C= (p.His1983=)
n.333+3957G=
c.5317C= (p.His1773=)
c.4762C= (p.His1588=)
c.2872C= (p.His958=)
c.6016C= (p.His2006=)
c.6520C= (p.His2174=)
c.6415C= (p.His2139=)
c.6202C= (p.His2068=)
c.6145C= (p.His2049=)
c.6061C= (p.His2021=)
c.6046C= (p.His2016=)
c.5950C= (p.His1984=)
c.5941C= (p.His1981=)
c.5923C= (p.His1975=)
c.5917C= (p.His1973=)
c.5890C= (p.His1964=)
c.5884C= (p.His1962=)
c.5866C= (p.His1956=)
c.5860C= (p.His1954=)
c.5857C= (p.His1953=)
c.5833C= (p.His1945=)
12g.2686183C>GCA383382508CACNA1C,CACNA1C-AS1c.5773C>G (p.His1925Asp)
c.5803C>G (p.His1935Asp)
c.5878C>G (p.His1960Asp)
c.5911C>G (p.His1971Asp)
c.5740C>G (p.His1914Asp)
c.5788C>G (p.His1930Asp)
c.6037C>G (p.His2013Asp)
c.5665C>G (p.His1889Asp)
c.5698C>G (p.His1900Asp)
c.5689C>G (p.His1897Asp)
c.5863C>G (p.His1955Asp)
n.823C>G
n.2201C>G
n.828C>G
c.5842C>G (p.His1948Asp)
c.5821C>G (p.His1941Asp)
c.5722C>G (p.His1908Asp)
c.5758C>G (p.His1920Asp)
c.5755C>G (p.His1919Asp)
c.5749C>G (p.His1917Asp)
c.5782C>G (p.His1928Asp)
c.5716C>G (p.His1906Asp)
c.5326C>G (p.His1776Asp)
c.5470C>G (p.His1824Asp)
c.5365C>G (p.His1789Asp)
c.1771C>G (p.His591Asp)
c.5401C>G (p.His1801Asp)
c.5947C>G (p.His1983Asp)
n.333+3957G>C
c.5317C>G (p.His1773Asp)
c.4762C>G (p.His1588Asp)
c.2872C>G (p.His958Asp)
c.6016C>G (p.His2006Asp)
c.6520C>G (p.His2174Asp)
c.6415C>G (p.His2139Asp)
c.6202C>G (p.His2068Asp)
c.6145C>G (p.His2049Asp)
c.6061C>G (p.His2021Asp)
c.6046C>G (p.His2016Asp)
c.5950C>G (p.His1984Asp)
c.5941C>G (p.His1981Asp)
c.5923C>G (p.His1975Asp)
c.5917C>G (p.His1973Asp)
c.5890C>G (p.His1964Asp)
c.5884C>G (p.His1962Asp)
c.5866C>G (p.His1956Asp)
c.5860C>G (p.His1954Asp)
c.5857C>G (p.His1953Asp)
c.5833C>G (p.His1945Asp)
12g.2686183C>TCA383382509CACNA1C,CACNA1C-AS1c.5773C>T (p.His1925Tyr)
c.5803C>T (p.His1935Tyr)
c.5878C>T (p.His1960Tyr)
c.5911C>T (p.His1971Tyr)
c.5740C>T (p.His1914Tyr)
c.5788C>T (p.His1930Tyr)
c.6037C>T (p.His2013Tyr)
c.5665C>T (p.His1889Tyr)
c.5698C>T (p.His1900Tyr)
c.5689C>T (p.His1897Tyr)
c.5863C>T (p.His1955Tyr)
n.823C>T
n.2201C>T
n.828C>T
c.5842C>T (p.His1948Tyr)
c.5821C>T (p.His1941Tyr)
c.5722C>T (p.His1908Tyr)
c.5758C>T (p.His1920Tyr)
c.5755C>T (p.His1919Tyr)
c.5749C>T (p.His1917Tyr)
c.5782C>T (p.His1928Tyr)
c.5716C>T (p.His1906Tyr)
c.5326C>T (p.His1776Tyr)
c.5470C>T (p.His1824Tyr)
c.5365C>T (p.His1789Tyr)
c.1771C>T (p.His591Tyr)
c.5401C>T (p.His1801Tyr)
c.5947C>T (p.His1983Tyr)
n.333+3957G>A
c.5317C>T (p.His1773Tyr)
c.4762C>T (p.His1588Tyr)
c.2872C>T (p.His958Tyr)
c.6016C>T (p.His2006Tyr)
c.6520C>T (p.His2174Tyr)
c.6415C>T (p.His2139Tyr)
c.6202C>T (p.His2068Tyr)
c.6145C>T (p.His2049Tyr)
c.6061C>T (p.His2021Tyr)
c.6046C>T (p.His2016Tyr)
c.5950C>T (p.His1984Tyr)
c.5941C>T (p.His1981Tyr)
c.5923C>T (p.His1975Tyr)
c.5917C>T (p.His1973Tyr)
c.5890C>T (p.His1964Tyr)
c.5884C>T (p.His1962Tyr)
c.5866C>T (p.His1956Tyr)
c.5860C>T (p.His1954Tyr)
c.5857C>T (p.His1953Tyr)
c.5833C>T (p.His1945Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.2686184A>CCA383382510CACNA1C,CACNA1C-AS1c.5774A>C (p.His1925Pro)
c.5804A>C (p.His1935Pro)
c.5879A>C (p.His1960Pro)
c.5912A>C (p.His1971Pro)
c.5741A>C (p.His1914Pro)
c.5789A>C (p.His1930Pro)
c.6038A>C (p.His2013Pro)
c.5666A>C (p.His1889Pro)
c.5699A>C (p.His1900Pro)
c.5690A>C (p.His1897Pro)
c.5864A>C (p.His1955Pro)
n.824A>C
n.2202A>C
n.829A>C
c.5843A>C (p.His1948Pro)
c.5822A>C (p.His1941Pro)
c.5723A>C (p.His1908Pro)
c.5759A>C (p.His1920Pro)
c.5756A>C (p.His1919Pro)
c.5750A>C (p.His1917Pro)
c.5783A>C (p.His1928Pro)
c.5717A>C (p.His1906Pro)
c.5327A>C (p.His1776Pro)
c.5471A>C (p.His1824Pro)
c.5366A>C (p.His1789Pro)
c.1772A>C (p.His591Pro)
c.5402A>C (p.His1801Pro)
c.5948A>C (p.His1983Pro)
n.333+3956T>G
c.5318A>C (p.His1773Pro)
c.4763A>C (p.His1588Pro)
c.2873A>C (p.His958Pro)
c.6017A>C (p.His2006Pro)
c.6521A>C (p.His2174Pro)
c.6416A>C (p.His2139Pro)
c.6203A>C (p.His2068Pro)
c.6146A>C (p.His2049Pro)
c.6062A>C (p.His2021Pro)
c.6047A>C (p.His2016Pro)
c.5951A>C (p.His1984Pro)
c.5942A>C (p.His1981Pro)
c.5924A>C (p.His1975Pro)
c.5918A>C (p.His1973Pro)
c.5891A>C (p.His1964Pro)
c.5885A>C (p.His1962Pro)
c.5867A>C (p.His1956Pro)
c.5861A>C (p.His1954Pro)
c.5858A>C (p.His1953Pro)
c.5834A>C (p.His1945Pro)
12g.2686184A>GCA383382511CACNA1C,CACNA1C-AS1c.5774A>G (p.His1925Arg)
c.5804A>G (p.His1935Arg)
c.5879A>G (p.His1960Arg)
c.5912A>G (p.His1971Arg)
c.5741A>G (p.His1914Arg)
c.5789A>G (p.His1930Arg)
c.6038A>G (p.His2013Arg)
c.5666A>G (p.His1889Arg)
c.5699A>G (p.His1900Arg)
c.5690A>G (p.His1897Arg)
c.5864A>G (p.His1955Arg)
n.824A>G
n.2202A>G
n.829A>G
c.5843A>G (p.His1948Arg)
c.5822A>G (p.His1941Arg)
c.5723A>G (p.His1908Arg)
c.5759A>G (p.His1920Arg)
c.5756A>G (p.His1919Arg)
c.5750A>G (p.His1917Arg)
c.5783A>G (p.His1928Arg)
c.5717A>G (p.His1906Arg)
c.5327A>G (p.His1776Arg)
c.5471A>G (p.His1824Arg)
c.5366A>G (p.His1789Arg)
c.1772A>G (p.His591Arg)
c.5402A>G (p.His1801Arg)
c.5948A>G (p.His1983Arg)
n.333+3956T>C
c.5318A>G (p.His1773Arg)
c.4763A>G (p.His1588Arg)
c.2873A>G (p.His958Arg)
c.6017A>G (p.His2006Arg)
c.6521A>G (p.His2174Arg)
c.6416A>G (p.His2139Arg)
c.6203A>G (p.His2068Arg)
c.6146A>G (p.His2049Arg)
c.6062A>G (p.His2021Arg)
c.6047A>G (p.His2016Arg)
c.5951A>G (p.His1984Arg)
c.5942A>G (p.His1981Arg)
c.5924A>G (p.His1975Arg)
c.5918A>G (p.His1973Arg)
c.5891A>G (p.His1964Arg)
c.5885A>G (p.His1962Arg)
c.5867A>G (p.His1956Arg)
c.5861A>G (p.His1954Arg)
c.5858A>G (p.His1953Arg)
c.5834A>G (p.His1945Arg)
12g.2686184A>TCA383382513CACNA1C,CACNA1C-AS1c.5774A>T (p.His1925Leu)
c.5804A>T (p.His1935Leu)
c.5879A>T (p.His1960Leu)
c.5912A>T (p.His1971Leu)
c.5741A>T (p.His1914Leu)
c.5789A>T (p.His1930Leu)
c.6038A>T (p.His2013Leu)
c.5666A>T (p.His1889Leu)
c.5699A>T (p.His1900Leu)
c.5690A>T (p.His1897Leu)
c.5864A>T (p.His1955Leu)
n.824A>T
n.2202A>T
n.829A>T
c.5843A>T (p.His1948Leu)
c.5822A>T (p.His1941Leu)
c.5723A>T (p.His1908Leu)
c.5759A>T (p.His1920Leu)
c.5756A>T (p.His1919Leu)
c.5750A>T (p.His1917Leu)
c.5783A>T (p.His1928Leu)
c.5717A>T (p.His1906Leu)
c.5327A>T (p.His1776Leu)
c.5471A>T (p.His1824Leu)
c.5366A>T (p.His1789Leu)
c.1772A>T (p.His591Leu)
c.5402A>T (p.His1801Leu)
c.5948A>T (p.His1983Leu)
n.333+3956T>A
c.5318A>T (p.His1773Leu)
c.4763A>T (p.His1588Leu)
c.2873A>T (p.His958Leu)
c.6017A>T (p.His2006Leu)
c.6521A>T (p.His2174Leu)
c.6416A>T (p.His2139Leu)
c.6203A>T (p.His2068Leu)
c.6146A>T (p.His2049Leu)
c.6062A>T (p.His2021Leu)
c.6047A>T (p.His2016Leu)
c.5951A>T (p.His1984Leu)
c.5942A>T (p.His1981Leu)
c.5924A>T (p.His1975Leu)
c.5918A>T (p.His1973Leu)
c.5891A>T (p.His1964Leu)
c.5885A>T (p.His1962Leu)
c.5867A>T (p.His1956Leu)
c.5861A>T (p.His1954Leu)
c.5858A>T (p.His1953Leu)
c.5834A>T (p.His1945Leu)
12g.2686185C>ACA383382515CACNA1C,CACNA1C-AS1c.5775C>A (p.His1925Gln)
c.5805C>A (p.His1935Gln)
c.5880C>A (p.His1960Gln)
c.5913C>A (p.His1971Gln)
c.5742C>A (p.His1914Gln)
c.5790C>A (p.His1930Gln)
c.6039C>A (p.His2013Gln)
c.5667C>A (p.His1889Gln)
c.5700C>A (p.His1900Gln)
c.5691C>A (p.His1897Gln)
c.5865C>A (p.His1955Gln)
n.825C>A
n.2203C>A
n.830C>A
c.5844C>A (p.His1948Gln)
c.5823C>A (p.His1941Gln)
c.5724C>A (p.His1908Gln)
c.5760C>A (p.His1920Gln)
c.5757C>A (p.His1919Gln)
c.5751C>A (p.His1917Gln)
c.5784C>A (p.His1928Gln)
c.5718C>A (p.His1906Gln)
c.5328C>A (p.His1776Gln)
c.5472C>A (p.His1824Gln)
c.5367C>A (p.His1789Gln)
c.1773C>A (p.His591Gln)
c.5403C>A (p.His1801Gln)
c.5949C>A (p.His1983Gln)
n.333+3955G>T
c.5319C>A (p.His1773Gln)
c.4764C>A (p.His1588Gln)
c.2874C>A (p.His958Gln)
c.6018C>A (p.His2006Gln)
c.6522C>A (p.His2174Gln)
c.6417C>A (p.His2139Gln)
c.6204C>A (p.His2068Gln)
c.6147C>A (p.His2049Gln)
c.6063C>A (p.His2021Gln)
c.6048C>A (p.His2016Gln)
c.5952C>A (p.His1984Gln)
c.5943C>A (p.His1981Gln)
c.5925C>A (p.His1975Gln)
c.5919C>A (p.His1973Gln)
c.5892C>A (p.His1964Gln)
c.5886C>A (p.His1962Gln)
c.5868C>A (p.His1956Gln)
c.5862C>A (p.His1954Gln)
c.5859C>A (p.His1953Gln)
c.5835C>A (p.His1945Gln)
12g.2686185C=CA2012350960CACNA1C,CACNA1C-AS1c.5775C= (p.His1925=)
c.5805C= (p.His1935=)
c.5880C= (p.His1960=)
c.5913C= (p.His1971=)
c.5742C= (p.His1914=)
c.5790C= (p.His1930=)
c.6039C= (p.His2013=)
c.5667C= (p.His1889=)
c.5700C= (p.His1900=)
c.5691C= (p.His1897=)
c.5865C= (p.His1955=)
n.825C=
n.2203C=
n.830C=
c.5844C= (p.His1948=)
c.5823C= (p.His1941=)
c.5724C= (p.His1908=)
c.5760C= (p.His1920=)
c.5757C= (p.His1919=)
c.5751C= (p.His1917=)
c.5784C= (p.His1928=)
c.5718C= (p.His1906=)
c.5328C= (p.His1776=)
c.5472C= (p.His1824=)
c.5367C= (p.His1789=)
c.1773C= (p.His591=)
c.5403C= (p.His1801=)
c.5949C= (p.His1983=)
n.333+3955G=
c.5319C= (p.His1773=)
c.4764C= (p.His1588=)
c.2874C= (p.His958=)
c.6018C= (p.His2006=)
c.6522C= (p.His2174=)
c.6417C= (p.His2139=)
c.6204C= (p.His2068=)
c.6147C= (p.His2049=)
c.6063C= (p.His2021=)
c.6048C= (p.His2016=)
c.5952C= (p.His1984=)
c.5943C= (p.His1981=)
c.5925C= (p.His1975=)
c.5919C= (p.His1973=)
c.5892C= (p.His1964=)
c.5886C= (p.His1962=)
c.5868C= (p.His1956=)
c.5862C= (p.His1954=)
c.5859C= (p.His1953=)
c.5835C= (p.His1945=)
12g.2686185C>GCA383382517CACNA1C,CACNA1C-AS1c.5775C>G (p.His1925Gln)
c.5805C>G (p.His1935Gln)
c.5880C>G (p.His1960Gln)
c.5913C>G (p.His1971Gln)
c.5742C>G (p.His1914Gln)
c.5790C>G (p.His1930Gln)
c.6039C>G (p.His2013Gln)
c.5667C>G (p.His1889Gln)
c.5700C>G (p.His1900Gln)
c.5691C>G (p.His1897Gln)
c.5865C>G (p.His1955Gln)
n.825C>G
n.2203C>G
n.830C>G
c.5844C>G (p.His1948Gln)
c.5823C>G (p.His1941Gln)
c.5724C>G (p.His1908Gln)
c.5760C>G (p.His1920Gln)
c.5757C>G (p.His1919Gln)
c.5751C>G (p.His1917Gln)
c.5784C>G (p.His1928Gln)
c.5718C>G (p.His1906Gln)
c.5328C>G (p.His1776Gln)
c.5472C>G (p.His1824Gln)
c.5367C>G (p.His1789Gln)
c.1773C>G (p.His591Gln)
c.5403C>G (p.His1801Gln)
c.5949C>G (p.His1983Gln)
n.333+3955G>C
c.5319C>G (p.His1773Gln)
c.4764C>G (p.His1588Gln)
c.2874C>G (p.His958Gln)
c.6018C>G (p.His2006Gln)
c.6522C>G (p.His2174Gln)
c.6417C>G (p.His2139Gln)
c.6204C>G (p.His2068Gln)
c.6147C>G (p.His2049Gln)
c.6063C>G (p.His2021Gln)
c.6048C>G (p.His2016Gln)
c.5952C>G (p.His1984Gln)
c.5943C>G (p.His1981Gln)
c.5925C>G (p.His1975Gln)
c.5919C>G (p.His1973Gln)
c.5892C>G (p.His1964Gln)
c.5886C>G (p.His1962Gln)
c.5868C>G (p.His1956Gln)
c.5862C>G (p.His1954Gln)
c.5859C>G (p.His1953Gln)
c.5835C>G (p.His1945Gln)
12g.2686185C>TCA477902209CACNA1C,CACNA1C-AS1c.5775C>T (p.His1925=)
c.5805C>T (p.His1935=)
c.5880C>T (p.His1960=)
c.5913C>T (p.His1971=)
c.5742C>T (p.His1914=)
c.5790C>T (p.His1930=)
c.6039C>T (p.His2013=)
c.5667C>T (p.His1889=)
c.5700C>T (p.His1900=)
c.5691C>T (p.His1897=)
c.5865C>T (p.His1955=)
n.825C>T
n.2203C>T
n.830C>T
c.5844C>T (p.His1948=)
c.5823C>T (p.His1941=)
c.5724C>T (p.His1908=)
c.5760C>T (p.His1920=)
c.5757C>T (p.His1919=)
c.5751C>T (p.His1917=)
c.5784C>T (p.His1928=)
c.5718C>T (p.His1906=)
c.5328C>T (p.His1776=)
c.5472C>T (p.His1824=)
c.5367C>T (p.His1789=)
c.1773C>T (p.His591=)
c.5403C>T (p.His1801=)
c.5949C>T (p.His1983=)
n.333+3955G>A
c.5319C>T (p.His1773=)
c.4764C>T (p.His1588=)
c.2874C>T (p.His958=)
c.6018C>T (p.His2006=)
c.6522C>T (p.His2174=)
c.6417C>T (p.His2139=)
c.6204C>T (p.His2068=)
c.6147C>T (p.His2049=)
c.6063C>T (p.His2021=)
c.6048C>T (p.His2016=)
c.5952C>T (p.His1984=)
c.5943C>T (p.His1981=)
c.5925C>T (p.His1975=)
c.5919C>T (p.His1973=)
c.5892C>T (p.His1964=)
c.5886C>T (p.His1962=)
c.5868C>T (p.His1956=)
c.5862C>T (p.His1954=)
c.5859C>T (p.His1953=)
c.5835C>T (p.His1945=)
 dbSNP gnomAD v3 gnomAD v4
12g.2686186C>ACA383382519CACNA1C,CACNA1C-AS1c.5776C>A (p.Leu1926Met)
c.5806C>A (p.Leu1936Met)
c.5881C>A (p.Leu1961Met)
c.5914C>A (p.Leu1972Met)
c.5743C>A (p.Leu1915Met)
c.5791C>A (p.Leu1931Met)
c.6040C>A (p.Leu2014Met)
c.5668C>A (p.Leu1890Met)
c.5701C>A (p.Leu1901Met)
c.5692C>A (p.Leu1898Met)
c.5866C>A (p.Leu1956Met)
n.826C>A
n.2204C>A
n.831C>A
c.5845C>A (p.Leu1949Met)
c.5824C>A (p.Leu1942Met)
c.5725C>A (p.Leu1909Met)
c.5761C>A (p.Leu1921Met)
c.5758C>A (p.Leu1920Met)
c.5752C>A (p.Leu1918Met)
c.5785C>A (p.Leu1929Met)
c.5719C>A (p.Leu1907Met)
c.5329C>A (p.Leu1777Met)
c.5473C>A (p.Leu1825Met)
c.5368C>A (p.Leu1790Met)
c.1774C>A (p.Leu592Met)
c.5404C>A (p.Leu1802Met)
c.5950C>A (p.Leu1984Met)
n.333+3954G>T
c.5320C>A (p.Leu1774Met)
c.4765C>A (p.Leu1589Met)
c.2875C>A (p.Leu959Met)
c.6019C>A (p.Leu2007Met)
c.6523C>A (p.Leu2175Met)
c.6418C>A (p.Leu2140Met)
c.6205C>A (p.Leu2069Met)
c.6148C>A (p.Leu2050Met)
c.6064C>A (p.Leu2022Met)
c.6049C>A (p.Leu2017Met)
c.5953C>A (p.Leu1985Met)
c.5944C>A (p.Leu1982Met)
c.5926C>A (p.Leu1976Met)
c.5920C>A (p.Leu1974Met)
c.5893C>A (p.Leu1965Met)
c.5887C>A (p.Leu1963Met)
c.5869C>A (p.Leu1957Met)
c.5863C>A (p.Leu1955Met)
c.5860C>A (p.Leu1954Met)
c.5836C>A (p.Leu1946Met)
12g.2686186C=CA2012350961CACNA1C,CACNA1C-AS1c.5776C= (p.Leu1926=)
c.5806C= (p.Leu1936=)
c.5881C= (p.Leu1961=)
c.5914C= (p.Leu1972=)
c.5743C= (p.Leu1915=)
c.5791C= (p.Leu1931=)
c.6040C= (p.Leu2014=)
c.5668C= (p.Leu1890=)
c.5701C= (p.Leu1901=)
c.5692C= (p.Leu1898=)
c.5866C= (p.Leu1956=)
n.826C=
n.2204C=
n.831C=
c.5845C= (p.Leu1949=)
c.5824C= (p.Leu1942=)
c.5725C= (p.Leu1909=)
c.5761C= (p.Leu1921=)
c.5758C= (p.Leu1920=)
c.5752C= (p.Leu1918=)
c.5785C= (p.Leu1929=)
c.5719C= (p.Leu1907=)
c.5329C= (p.Leu1777=)
c.5473C= (p.Leu1825=)
c.5368C= (p.Leu1790=)
c.1774C= (p.Leu592=)
c.5404C= (p.Leu1802=)
c.5950C= (p.Leu1984=)
n.333+3954G=
c.5320C= (p.Leu1774=)
c.4765C= (p.Leu1589=)
c.2875C= (p.Leu959=)
c.6019C= (p.Leu2007=)
c.6523C= (p.Leu2175=)
c.6418C= (p.Leu2140=)
c.6205C= (p.Leu2069=)
c.6148C= (p.Leu2050=)
c.6064C= (p.Leu2022=)
c.6049C= (p.Leu2017=)
c.5953C= (p.Leu1985=)
c.5944C= (p.Leu1982=)
c.5926C= (p.Leu1976=)
c.5920C= (p.Leu1974=)
c.5893C= (p.Leu1965=)
c.5887C= (p.Leu1963=)
c.5869C= (p.Leu1957=)
c.5863C= (p.Leu1955=)
c.5860C= (p.Leu1954=)
c.5836C= (p.Leu1946=)
12g.2686186C>GCA383382523CACNA1C,CACNA1C-AS1c.5776C>G (p.Leu1926Val)
c.5806C>G (p.Leu1936Val)
c.5881C>G (p.Leu1961Val)
c.5914C>G (p.Leu1972Val)
c.5743C>G (p.Leu1915Val)
c.5791C>G (p.Leu1931Val)
c.6040C>G (p.Leu2014Val)
c.5668C>G (p.Leu1890Val)
c.5701C>G (p.Leu1901Val)
c.5692C>G (p.Leu1898Val)
c.5866C>G (p.Leu1956Val)
n.826C>G
n.2204C>G
n.831C>G
c.5845C>G (p.Leu1949Val)
c.5824C>G (p.Leu1942Val)
c.5725C>G (p.Leu1909Val)
c.5761C>G (p.Leu1921Val)
c.5758C>G (p.Leu1920Val)
c.5752C>G (p.Leu1918Val)
c.5785C>G (p.Leu1929Val)
c.5719C>G (p.Leu1907Val)
c.5329C>G (p.Leu1777Val)
c.5473C>G (p.Leu1825Val)
c.5368C>G (p.Leu1790Val)
c.1774C>G (p.Leu592Val)
c.5404C>G (p.Leu1802Val)
c.5950C>G (p.Leu1984Val)
n.333+3954G>C
c.5320C>G (p.Leu1774Val)
c.4765C>G (p.Leu1589Val)
c.2875C>G (p.Leu959Val)
c.6019C>G (p.Leu2007Val)
c.6523C>G (p.Leu2175Val)
c.6418C>G (p.Leu2140Val)
c.6205C>G (p.Leu2069Val)
c.6148C>G (p.Leu2050Val)
c.6064C>G (p.Leu2022Val)
c.6049C>G (p.Leu2017Val)
c.5953C>G (p.Leu1985Val)
c.5944C>G (p.Leu1982Val)
c.5926C>G (p.Leu1976Val)
c.5920C>G (p.Leu1974Val)
c.5893C>G (p.Leu1965Val)
c.5887C>G (p.Leu1963Val)
c.5869C>G (p.Leu1957Val)
c.5863C>G (p.Leu1955Val)
c.5860C>G (p.Leu1954Val)
c.5836C>G (p.Leu1946Val)
12g.2686186C>TCA477902214CACNA1C,CACNA1C-AS1c.5776C>T (p.Leu1926=)
c.5806C>T (p.Leu1936=)
c.5881C>T (p.Leu1961=)
c.5914C>T (p.Leu1972=)
c.5743C>T (p.Leu1915=)
c.5791C>T (p.Leu1931=)
c.6040C>T (p.Leu2014=)
c.5668C>T (p.Leu1890=)
c.5701C>T (p.Leu1901=)
c.5692C>T (p.Leu1898=)
c.5866C>T (p.Leu1956=)
n.826C>T
n.2204C>T
n.831C>T
c.5845C>T (p.Leu1949=)
c.5824C>T (p.Leu1942=)
c.5725C>T (p.Leu1909=)
c.5761C>T (p.Leu1921=)
c.5758C>T (p.Leu1920=)
c.5752C>T (p.Leu1918=)
c.5785C>T (p.Leu1929=)
c.5719C>T (p.Leu1907=)
c.5329C>T (p.Leu1777=)
c.5473C>T (p.Leu1825=)
c.5368C>T (p.Leu1790=)
c.1774C>T (p.Leu592=)
c.5404C>T (p.Leu1802=)
c.5950C>T (p.Leu1984=)
n.333+3954G>A
c.5320C>T (p.Leu1774=)
c.4765C>T (p.Leu1589=)
c.2875C>T (p.Leu959=)
c.6019C>T (p.Leu2007=)
c.6523C>T (p.Leu2175=)
c.6418C>T (p.Leu2140=)
c.6205C>T (p.Leu2069=)
c.6148C>T (p.Leu2050=)
c.6064C>T (p.Leu2022=)
c.6049C>T (p.Leu2017=)
c.5953C>T (p.Leu1985=)
c.5944C>T (p.Leu1982=)
c.5926C>T (p.Leu1976=)
c.5920C>T (p.Leu1974=)
c.5893C>T (p.Leu1965=)
c.5887C>T (p.Leu1963=)
c.5869C>T (p.Leu1957=)
c.5863C>T (p.Leu1955=)
c.5860C>T (p.Leu1954=)
c.5836C>T (p.Leu1946=)
 ClinVar dbSNP gnomAD v4
12g.2686187T>ACA383382526CACNA1C,CACNA1C-AS1c.5777T>A (p.Leu1926Gln)
c.5807T>A (p.Leu1936Gln)
c.5882T>A (p.Leu1961Gln)
c.5915T>A (p.Leu1972Gln)
c.5744T>A (p.Leu1915Gln)
c.5792T>A (p.Leu1931Gln)
c.6041T>A (p.Leu2014Gln)
c.5669T>A (p.Leu1890Gln)
c.5702T>A (p.Leu1901Gln)
c.5693T>A (p.Leu1898Gln)
c.5867T>A (p.Leu1956Gln)
n.827T>A
n.2205T>A
n.832T>A
c.5846T>A (p.Leu1949Gln)
c.5825T>A (p.Leu1942Gln)
c.5726T>A (p.Leu1909Gln)
c.5762T>A (p.Leu1921Gln)
c.5759T>A (p.Leu1920Gln)
c.5753T>A (p.Leu1918Gln)
c.5786T>A (p.Leu1929Gln)
c.5720T>A (p.Leu1907Gln)
c.5330T>A (p.Leu1777Gln)
c.5474T>A (p.Leu1825Gln)
c.5369T>A (p.Leu1790Gln)
c.1775T>A (p.Leu592Gln)
c.5405T>A (p.Leu1802Gln)
c.5951T>A (p.Leu1984Gln)
n.333+3953A>T
c.5321T>A (p.Leu1774Gln)
c.4766T>A (p.Leu1589Gln)
c.2876T>A (p.Leu959Gln)
c.6020T>A (p.Leu2007Gln)
c.6524T>A (p.Leu2175Gln)
c.6419T>A (p.Leu2140Gln)
c.6206T>A (p.Leu2069Gln)
c.6149T>A (p.Leu2050Gln)
c.6065T>A (p.Leu2022Gln)
c.6050T>A (p.Leu2017Gln)
c.5954T>A (p.Leu1985Gln)
c.5945T>A (p.Leu1982Gln)
c.5927T>A (p.Leu1976Gln)
c.5921T>A (p.Leu1974Gln)
c.5894T>A (p.Leu1965Gln)
c.5888T>A (p.Leu1963Gln)
c.5870T>A (p.Leu1957Gln)
c.5864T>A (p.Leu1955Gln)
c.5861T>A (p.Leu1954Gln)
c.5837T>A (p.Leu1946Gln)
12g.2686187T>CCA383382529CACNA1C,CACNA1C-AS1c.5777T>C (p.Leu1926Pro)
c.5807T>C (p.Leu1936Pro)
c.5882T>C (p.Leu1961Pro)
c.5915T>C (p.Leu1972Pro)
c.5744T>C (p.Leu1915Pro)
c.5792T>C (p.Leu1931Pro)
c.6041T>C (p.Leu2014Pro)
c.5669T>C (p.Leu1890Pro)
c.5702T>C (p.Leu1901Pro)
c.5693T>C (p.Leu1898Pro)
c.5867T>C (p.Leu1956Pro)
n.827T>C
n.2205T>C
n.832T>C
c.5846T>C (p.Leu1949Pro)
c.5825T>C (p.Leu1942Pro)
c.5726T>C (p.Leu1909Pro)
c.5762T>C (p.Leu1921Pro)
c.5759T>C (p.Leu1920Pro)
c.5753T>C (p.Leu1918Pro)
c.5786T>C (p.Leu1929Pro)
c.5720T>C (p.Leu1907Pro)
c.5330T>C (p.Leu1777Pro)
c.5474T>C (p.Leu1825Pro)
c.5369T>C (p.Leu1790Pro)
c.1775T>C (p.Leu592Pro)
c.5405T>C (p.Leu1802Pro)
c.5951T>C (p.Leu1984Pro)
n.333+3953A>G
c.5321T>C (p.Leu1774Pro)
c.4766T>C (p.Leu1589Pro)
c.2876T>C (p.Leu959Pro)
c.6020T>C (p.Leu2007Pro)
c.6524T>C (p.Leu2175Pro)
c.6419T>C (p.Leu2140Pro)
c.6206T>C (p.Leu2069Pro)
c.6149T>C (p.Leu2050Pro)
c.6065T>C (p.Leu2022Pro)
c.6050T>C (p.Leu2017Pro)
c.5954T>C (p.Leu1985Pro)
c.5945T>C (p.Leu1982Pro)
c.5927T>C (p.Leu1976Pro)
c.5921T>C (p.Leu1974Pro)
c.5894T>C (p.Leu1965Pro)
c.5888T>C (p.Leu1963Pro)
c.5870T>C (p.Leu1957Pro)
c.5864T>C (p.Leu1955Pro)
c.5861T>C (p.Leu1954Pro)
c.5837T>C (p.Leu1946Pro)
12g.2686187T>GCA383382527CACNA1C,CACNA1C-AS1c.5777T>G (p.Leu1926Arg)
c.5807T>G (p.Leu1936Arg)
c.5882T>G (p.Leu1961Arg)
c.5915T>G (p.Leu1972Arg)
c.5744T>G (p.Leu1915Arg)
c.5792T>G (p.Leu1931Arg)
c.6041T>G (p.Leu2014Arg)
c.5669T>G (p.Leu1890Arg)
c.5702T>G (p.Leu1901Arg)
c.5693T>G (p.Leu1898Arg)
c.5867T>G (p.Leu1956Arg)
n.827T>G
n.2205T>G
n.832T>G
c.5846T>G (p.Leu1949Arg)
c.5825T>G (p.Leu1942Arg)
c.5726T>G (p.Leu1909Arg)
c.5762T>G (p.Leu1921Arg)
c.5759T>G (p.Leu1920Arg)
c.5753T>G (p.Leu1918Arg)
c.5786T>G (p.Leu1929Arg)
c.5720T>G (p.Leu1907Arg)
c.5330T>G (p.Leu1777Arg)
c.5474T>G (p.Leu1825Arg)
c.5369T>G (p.Leu1790Arg)
c.1775T>G (p.Leu592Arg)
c.5405T>G (p.Leu1802Arg)
c.5951T>G (p.Leu1984Arg)
n.333+3953A>C
c.5321T>G (p.Leu1774Arg)
c.4766T>G (p.Leu1589Arg)
c.2876T>G (p.Leu959Arg)
c.6020T>G (p.Leu2007Arg)
c.6524T>G (p.Leu2175Arg)
c.6419T>G (p.Leu2140Arg)
c.6206T>G (p.Leu2069Arg)
c.6149T>G (p.Leu2050Arg)
c.6065T>G (p.Leu2022Arg)
c.6050T>G (p.Leu2017Arg)
c.5954T>G (p.Leu1985Arg)
c.5945T>G (p.Leu1982Arg)
c.5927T>G (p.Leu1976Arg)
c.5921T>G (p.Leu1974Arg)
c.5894T>G (p.Leu1965Arg)
c.5888T>G (p.Leu1963Arg)
c.5870T>G (p.Leu1957Arg)
c.5864T>G (p.Leu1955Arg)
c.5861T>G (p.Leu1954Arg)
c.5837T>G (p.Leu1946Arg)
12g.2686188G>ACA477902227CACNA1C,CACNA1C-AS1c.5778G>A (p.Leu1926=)
c.5808G>A (p.Leu1936=)
c.5883G>A (p.Leu1961=)
c.5916G>A (p.Leu1972=)
c.5745G>A (p.Leu1915=)
c.5793G>A (p.Leu1931=)
c.6042G>A (p.Leu2014=)
c.5670G>A (p.Leu1890=)
c.5703G>A (p.Leu1901=)
c.5694G>A (p.Leu1898=)
c.5868G>A (p.Leu1956=)
n.828G>A
n.2206G>A
n.833G>A
c.5847G>A (p.Leu1949=)
c.5826G>A (p.Leu1942=)
c.5727G>A (p.Leu1909=)
c.5763G>A (p.Leu1921=)
c.5760G>A (p.Leu1920=)
c.5754G>A (p.Leu1918=)
c.5787G>A (p.Leu1929=)
c.5721G>A (p.Leu1907=)
c.5331G>A (p.Leu1777=)
c.5475G>A (p.Leu1825=)
c.5370G>A (p.Leu1790=)
c.1776G>A (p.Leu592=)
c.5406G>A (p.Leu1802=)
c.5952G>A (p.Leu1984=)
n.333+3952C>T
c.5322G>A (p.Leu1774=)
c.4767G>A (p.Leu1589=)
c.2877G>A (p.Leu959=)
c.6021G>A (p.Leu2007=)
c.6525G>A (p.Leu2175=)
c.6420G>A (p.Leu2140=)
c.6207G>A (p.Leu2069=)
c.6150G>A (p.Leu2050=)
c.6066G>A (p.Leu2022=)
c.6051G>A (p.Leu2017=)
c.5955G>A (p.Leu1985=)
c.5946G>A (p.Leu1982=)
c.5928G>A (p.Leu1976=)
c.5922G>A (p.Leu1974=)
c.5895G>A (p.Leu1965=)
c.5889G>A (p.Leu1963=)
c.5871G>A (p.Leu1957=)
c.5865G>A (p.Leu1955=)
c.5862G>A (p.Leu1954=)
c.5838G>A (p.Leu1946=)
12g.2686188G>CCA477902220CACNA1C,CACNA1C-AS1c.5778G>C (p.Leu1926=)
c.5808G>C (p.Leu1936=)
c.5883G>C (p.Leu1961=)
c.5916G>C (p.Leu1972=)
c.5745G>C (p.Leu1915=)
c.5793G>C (p.Leu1931=)
c.6042G>C (p.Leu2014=)
c.5670G>C (p.Leu1890=)
c.5703G>C (p.Leu1901=)
c.5694G>C (p.Leu1898=)
c.5868G>C (p.Leu1956=)
n.828G>C
n.2206G>C
n.833G>C
c.5847G>C (p.Leu1949=)
c.5826G>C (p.Leu1942=)
c.5727G>C (p.Leu1909=)
c.5763G>C (p.Leu1921=)
c.5760G>C (p.Leu1920=)
c.5754G>C (p.Leu1918=)
c.5787G>C (p.Leu1929=)
c.5721G>C (p.Leu1907=)
c.5331G>C (p.Leu1777=)
c.5475G>C (p.Leu1825=)
c.5370G>C (p.Leu1790=)
c.1776G>C (p.Leu592=)
c.5406G>C (p.Leu1802=)
c.5952G>C (p.Leu1984=)
n.333+3952C>G
c.5322G>C (p.Leu1774=)
c.4767G>C (p.Leu1589=)
c.2877G>C (p.Leu959=)
c.6021G>C (p.Leu2007=)
c.6525G>C (p.Leu2175=)
c.6420G>C (p.Leu2140=)
c.6207G>C (p.Leu2069=)
c.6150G>C (p.Leu2050=)
c.6066G>C (p.Leu2022=)
c.6051G>C (p.Leu2017=)
c.5955G>C (p.Leu1985=)
c.5946G>C (p.Leu1982=)
c.5928G>C (p.Leu1976=)
c.5922G>C (p.Leu1974=)
c.5895G>C (p.Leu1965=)
c.5889G>C (p.Leu1963=)
c.5871G>C (p.Leu1957=)
c.5865G>C (p.Leu1955=)
c.5862G>C (p.Leu1954=)
c.5838G>C (p.Leu1946=)
12g.2686188G>TCA477902224CACNA1C,CACNA1C-AS1c.5778G>T (p.Leu1926=)
c.5808G>T (p.Leu1936=)
c.5883G>T (p.Leu1961=)
c.5916G>T (p.Leu1972=)
c.5745G>T (p.Leu1915=)
c.5793G>T (p.Leu1931=)
c.6042G>T (p.Leu2014=)
c.5670G>T (p.Leu1890=)
c.5703G>T (p.Leu1901=)
c.5694G>T (p.Leu1898=)
c.5868G>T (p.Leu1956=)
n.828G>T
n.2206G>T
n.833G>T
c.5847G>T (p.Leu1949=)
c.5826G>T (p.Leu1942=)
c.5727G>T (p.Leu1909=)
c.5763G>T (p.Leu1921=)
c.5760G>T (p.Leu1920=)
c.5754G>T (p.Leu1918=)
c.5787G>T (p.Leu1929=)
c.5721G>T (p.Leu1907=)
c.5331G>T (p.Leu1777=)
c.5475G>T (p.Leu1825=)
c.5370G>T (p.Leu1790=)
c.1776G>T (p.Leu592=)
c.5406G>T (p.Leu1802=)
c.5952G>T (p.Leu1984=)
n.333+3952C>A
c.5322G>T (p.Leu1774=)
c.4767G>T (p.Leu1589=)
c.2877G>T (p.Leu959=)
c.6021G>T (p.Leu2007=)
c.6525G>T (p.Leu2175=)
c.6420G>T (p.Leu2140=)
c.6207G>T (p.Leu2069=)
c.6150G>T (p.Leu2050=)
c.6066G>T (p.Leu2022=)
c.6051G>T (p.Leu2017=)
c.5955G>T (p.Leu1985=)
c.5946G>T (p.Leu1982=)
c.5928G>T (p.Leu1976=)
c.5922G>T (p.Leu1974=)
c.5895G>T (p.Leu1965=)
c.5889G>T (p.Leu1963=)
c.5871G>T (p.Leu1957=)
c.5865G>T (p.Leu1955=)
c.5862G>T (p.Leu1954=)
c.5838G>T (p.Leu1946=)
12g.2686189G>ACA383382531CACNA1C,CACNA1C-AS1c.5779G>A (p.Glu1927Lys)
c.5809G>A (p.Glu1937Lys)
c.5884G>A (p.Glu1962Lys)
c.5917G>A (p.Glu1973Lys)
c.5746G>A (p.Glu1916Lys)
c.5794G>A (p.Glu1932Lys)
c.6043G>A (p.Glu2015Lys)
c.5671G>A (p.Glu1891Lys)
c.5704G>A (p.Glu1902Lys)
c.5695G>A (p.Glu1899Lys)
c.5869G>A (p.Glu1957Lys)
n.829G>A
n.2207G>A
n.834G>A
c.5848G>A (p.Glu1950Lys)
c.5827G>A (p.Glu1943Lys)
c.5728G>A (p.Glu1910Lys)
c.5764G>A (p.Glu1922Lys)
c.5761G>A (p.Glu1921Lys)
c.5755G>A (p.Glu1919Lys)
c.5788G>A (p.Glu1930Lys)
c.5722G>A (p.Glu1908Lys)
c.5332G>A (p.Glu1778Lys)
c.5476G>A (p.Glu1826Lys)
c.5371G>A (p.Glu1791Lys)
c.1777G>A (p.Glu593Lys)
c.5407G>A (p.Glu1803Lys)
c.5953G>A (p.Glu1985Lys)
n.333+3951C>T
c.5323G>A (p.Glu1775Lys)
c.4768G>A (p.Glu1590Lys)
c.2878G>A (p.Glu960Lys)
c.6022G>A (p.Glu2008Lys)
c.6526G>A (p.Glu2176Lys)
c.6421G>A (p.Glu2141Lys)
c.6208G>A (p.Glu2070Lys)
c.6151G>A (p.Glu2051Lys)
c.6067G>A (p.Glu2023Lys)
c.6052G>A (p.Glu2018Lys)
c.5956G>A (p.Glu1986Lys)
c.5947G>A (p.Glu1983Lys)
c.5929G>A (p.Glu1977Lys)
c.5923G>A (p.Glu1975Lys)
c.5896G>A (p.Glu1966Lys)
c.5890G>A (p.Glu1964Lys)
c.5872G>A (p.Glu1958Lys)
c.5866G>A (p.Glu1956Lys)
c.5863G>A (p.Glu1955Lys)
c.5839G>A (p.Glu1947Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.2686189G>CCA383382533CACNA1C,CACNA1C-AS1c.5779G>C (p.Glu1927Gln)
c.5809G>C (p.Glu1937Gln)
c.5884G>C (p.Glu1962Gln)
c.5917G>C (p.Glu1973Gln)
c.5746G>C (p.Glu1916Gln)
c.5794G>C (p.Glu1932Gln)
c.6043G>C (p.Glu2015Gln)
c.5671G>C (p.Glu1891Gln)
c.5704G>C (p.Glu1902Gln)
c.5695G>C (p.Glu1899Gln)
c.5869G>C (p.Glu1957Gln)
n.829G>C
n.2207G>C
n.834G>C
c.5848G>C (p.Glu1950Gln)
c.5827G>C (p.Glu1943Gln)
c.5728G>C (p.Glu1910Gln)
c.5764G>C (p.Glu1922Gln)
c.5761G>C (p.Glu1921Gln)
c.5755G>C (p.Glu1919Gln)
c.5788G>C (p.Glu1930Gln)
c.5722G>C (p.Glu1908Gln)
c.5332G>C (p.Glu1778Gln)
c.5476G>C (p.Glu1826Gln)
c.5371G>C (p.Glu1791Gln)
c.1777G>C (p.Glu593Gln)
c.5407G>C (p.Glu1803Gln)
c.5953G>C (p.Glu1985Gln)
n.333+3951C>G
c.5323G>C (p.Glu1775Gln)
c.4768G>C (p.Glu1590Gln)
c.2878G>C (p.Glu960Gln)
c.6022G>C (p.Glu2008Gln)
c.6526G>C (p.Glu2176Gln)
c.6421G>C (p.Glu2141Gln)
c.6208G>C (p.Glu2070Gln)
c.6151G>C (p.Glu2051Gln)
c.6067G>C (p.Glu2023Gln)
c.6052G>C (p.Glu2018Gln)
c.5956G>C (p.Glu1986Gln)
c.5947G>C (p.Glu1983Gln)
c.5929G>C (p.Glu1977Gln)
c.5923G>C (p.Glu1975Gln)
c.5896G>C (p.Glu1966Gln)
c.5890G>C (p.Glu1964Gln)
c.5872G>C (p.Glu1958Gln)
c.5866G>C (p.Glu1956Gln)
c.5863G>C (p.Glu1955Gln)
c.5839G>C (p.Glu1947Gln)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686189G=CA2012350962CACNA1C,CACNA1C-AS1c.5779G= (p.Glu1927=)
c.5809G= (p.Glu1937=)
c.5884G= (p.Glu1962=)
c.5917G= (p.Glu1973=)
c.5746G= (p.Glu1916=)
c.5794G= (p.Glu1932=)
c.6043G= (p.Glu2015=)
c.5671G= (p.Glu1891=)
c.5704G= (p.Glu1902=)
c.5695G= (p.Glu1899=)
c.5869G= (p.Glu1957=)
n.829G=
n.2207G=
n.834G=
c.5848G= (p.Glu1950=)
c.5827G= (p.Glu1943=)
c.5728G= (p.Glu1910=)
c.5764G= (p.Glu1922=)
c.5761G= (p.Glu1921=)
c.5755G= (p.Glu1919=)
c.5788G= (p.Glu1930=)
c.5722G= (p.Glu1908=)
c.5332G= (p.Glu1778=)
c.5476G= (p.Glu1826=)
c.5371G= (p.Glu1791=)
c.1777G= (p.Glu593=)
c.5407G= (p.Glu1803=)
c.5953G= (p.Glu1985=)
n.333+3951C=
c.5323G= (p.Glu1775=)
c.4768G= (p.Glu1590=)
c.2878G= (p.Glu960=)
c.6022G= (p.Glu2008=)
c.6526G= (p.Glu2176=)
c.6421G= (p.Glu2141=)
c.6208G= (p.Glu2070=)
c.6151G= (p.Glu2051=)
c.6067G= (p.Glu2023=)
c.6052G= (p.Glu2018=)
c.5956G= (p.Glu1986=)
c.5947G= (p.Glu1983=)
c.5929G= (p.Glu1977=)
c.5923G= (p.Glu1975=)
c.5896G= (p.Glu1966=)
c.5890G= (p.Glu1964=)
c.5872G= (p.Glu1958=)
c.5866G= (p.Glu1956=)
c.5863G= (p.Glu1955=)
c.5839G= (p.Glu1947=)
12g.2686189G>TCA383382535CACNA1C,CACNA1C-AS1c.5779G>T (p.Glu1927Ter)
c.5809G>T (p.Glu1937Ter)
c.5884G>T (p.Glu1962Ter)
c.5917G>T (p.Glu1973Ter)
c.5746G>T (p.Glu1916Ter)
c.5794G>T (p.Glu1932Ter)
c.6043G>T (p.Glu2015Ter)
c.5671G>T (p.Glu1891Ter)
c.5704G>T (p.Glu1902Ter)
c.5695G>T (p.Glu1899Ter)
c.5869G>T (p.Glu1957Ter)
n.829G>T
n.2207G>T
n.834G>T
c.5848G>T (p.Glu1950Ter)
c.5827G>T (p.Glu1943Ter)
c.5728G>T (p.Glu1910Ter)
c.5764G>T (p.Glu1922Ter)
c.5761G>T (p.Glu1921Ter)
c.5755G>T (p.Glu1919Ter)
c.5788G>T (p.Glu1930Ter)
c.5722G>T (p.Glu1908Ter)
c.5332G>T (p.Glu1778Ter)
c.5476G>T (p.Glu1826Ter)
c.5371G>T (p.Glu1791Ter)
c.1777G>T (p.Glu593Ter)
c.5407G>T (p.Glu1803Ter)
c.5953G>T (p.Glu1985Ter)
n.333+3951C>A
c.5323G>T (p.Glu1775Ter)
c.4768G>T (p.Glu1590Ter)
c.2878G>T (p.Glu960Ter)
c.6022G>T (p.Glu2008Ter)
c.6526G>T (p.Glu2176Ter)
c.6421G>T (p.Glu2141Ter)
c.6208G>T (p.Glu2070Ter)
c.6151G>T (p.Glu2051Ter)
c.6067G>T (p.Glu2023Ter)
c.6052G>T (p.Glu2018Ter)
c.5956G>T (p.Glu1986Ter)
c.5947G>T (p.Glu1983Ter)
c.5929G>T (p.Glu1977Ter)
c.5923G>T (p.Glu1975Ter)
c.5896G>T (p.Glu1966Ter)
c.5890G>T (p.Glu1964Ter)
c.5872G>T (p.Glu1958Ter)
c.5866G>T (p.Glu1956Ter)
c.5863G>T (p.Glu1955Ter)
c.5839G>T (p.Glu1947Ter)
12g.2686190A>CCA383382537CACNA1C,CACNA1C-AS1c.5780A>C (p.Glu1927Ala)
c.5810A>C (p.Glu1937Ala)
c.5885A>C (p.Glu1962Ala)
c.5918A>C (p.Glu1973Ala)
c.5747A>C (p.Glu1916Ala)
c.5795A>C (p.Glu1932Ala)
c.6044A>C (p.Glu2015Ala)
c.5672A>C (p.Glu1891Ala)
c.5705A>C (p.Glu1902Ala)
c.5696A>C (p.Glu1899Ala)
c.5870A>C (p.Glu1957Ala)
n.830A>C
n.2208A>C
n.835A>C
c.5849A>C (p.Glu1950Ala)
c.5828A>C (p.Glu1943Ala)
c.5729A>C (p.Glu1910Ala)
c.5765A>C (p.Glu1922Ala)
c.5762A>C (p.Glu1921Ala)
c.5756A>C (p.Glu1919Ala)
c.5789A>C (p.Glu1930Ala)
c.5723A>C (p.Glu1908Ala)
c.5333A>C (p.Glu1778Ala)
c.5477A>C (p.Glu1826Ala)
c.5372A>C (p.Glu1791Ala)
c.1778A>C (p.Glu593Ala)
c.5408A>C (p.Glu1803Ala)
c.5954A>C (p.Glu1985Ala)
n.333+3950T>G
c.5324A>C (p.Glu1775Ala)
c.4769A>C (p.Glu1590Ala)
c.2879A>C (p.Glu960Ala)
c.6023A>C (p.Glu2008Ala)
c.6527A>C (p.Glu2176Ala)
c.6422A>C (p.Glu2141Ala)
c.6209A>C (p.Glu2070Ala)
c.6152A>C (p.Glu2051Ala)
c.6068A>C (p.Glu2023Ala)
c.6053A>C (p.Glu2018Ala)
c.5957A>C (p.Glu1986Ala)
c.5948A>C (p.Glu1983Ala)
c.5930A>C (p.Glu1977Ala)
c.5924A>C (p.Glu1975Ala)
c.5897A>C (p.Glu1966Ala)
c.5891A>C (p.Glu1964Ala)
c.5873A>C (p.Glu1958Ala)
c.5867A>C (p.Glu1956Ala)
c.5864A>C (p.Glu1955Ala)
c.5840A>C (p.Glu1947Ala)
12g.2686190A>GCA383382538CACNA1C,CACNA1C-AS1c.5780A>G (p.Glu1927Gly)
c.5810A>G (p.Glu1937Gly)
c.5885A>G (p.Glu1962Gly)
c.5918A>G (p.Glu1973Gly)
c.5747A>G (p.Glu1916Gly)
c.5795A>G (p.Glu1932Gly)
c.6044A>G (p.Glu2015Gly)
c.5672A>G (p.Glu1891Gly)
c.5705A>G (p.Glu1902Gly)
c.5696A>G (p.Glu1899Gly)
c.5870A>G (p.Glu1957Gly)
n.830A>G
n.2208A>G
n.835A>G
c.5849A>G (p.Glu1950Gly)
c.5828A>G (p.Glu1943Gly)
c.5729A>G (p.Glu1910Gly)
c.5765A>G (p.Glu1922Gly)
c.5762A>G (p.Glu1921Gly)
c.5756A>G (p.Glu1919Gly)
c.5789A>G (p.Glu1930Gly)
c.5723A>G (p.Glu1908Gly)
c.5333A>G (p.Glu1778Gly)
c.5477A>G (p.Glu1826Gly)
c.5372A>G (p.Glu1791Gly)
c.1778A>G (p.Glu593Gly)
c.5408A>G (p.Glu1803Gly)
c.5954A>G (p.Glu1985Gly)
n.333+3950T>C
c.5324A>G (p.Glu1775Gly)
c.4769A>G (p.Glu1590Gly)
c.2879A>G (p.Glu960Gly)
c.6023A>G (p.Glu2008Gly)
c.6527A>G (p.Glu2176Gly)
c.6422A>G (p.Glu2141Gly)
c.6209A>G (p.Glu2070Gly)
c.6152A>G (p.Glu2051Gly)
c.6068A>G (p.Glu2023Gly)
c.6053A>G (p.Glu2018Gly)
c.5957A>G (p.Glu1986Gly)
c.5948A>G (p.Glu1983Gly)
c.5930A>G (p.Glu1977Gly)
c.5924A>G (p.Glu1975Gly)
c.5897A>G (p.Glu1966Gly)
c.5891A>G (p.Glu1964Gly)
c.5873A>G (p.Glu1958Gly)
c.5867A>G (p.Glu1956Gly)
c.5864A>G (p.Glu1955Gly)
c.5840A>G (p.Glu1947Gly)
12g.2686190A>TCA383382539CACNA1C,CACNA1C-AS1c.5780A>T (p.Glu1927Val)
c.5810A>T (p.Glu1937Val)
c.5885A>T (p.Glu1962Val)
c.5918A>T (p.Glu1973Val)
c.5747A>T (p.Glu1916Val)
c.5795A>T (p.Glu1932Val)
c.6044A>T (p.Glu2015Val)
c.5672A>T (p.Glu1891Val)
c.5705A>T (p.Glu1902Val)
c.5696A>T (p.Glu1899Val)
c.5870A>T (p.Glu1957Val)
n.830A>T
n.2208A>T
n.835A>T
c.5849A>T (p.Glu1950Val)
c.5828A>T (p.Glu1943Val)
c.5729A>T (p.Glu1910Val)
c.5765A>T (p.Glu1922Val)
c.5762A>T (p.Glu1921Val)
c.5756A>T (p.Glu1919Val)
c.5789A>T (p.Glu1930Val)
c.5723A>T (p.Glu1908Val)
c.5333A>T (p.Glu1778Val)
c.5477A>T (p.Glu1826Val)
c.5372A>T (p.Glu1791Val)
c.1778A>T (p.Glu593Val)
c.5408A>T (p.Glu1803Val)
c.5954A>T (p.Glu1985Val)
n.333+3950T>A
c.5324A>T (p.Glu1775Val)
c.4769A>T (p.Glu1590Val)
c.2879A>T (p.Glu960Val)
c.6023A>T (p.Glu2008Val)
c.6527A>T (p.Glu2176Val)
c.6422A>T (p.Glu2141Val)
c.6209A>T (p.Glu2070Val)
c.6152A>T (p.Glu2051Val)
c.6068A>T (p.Glu2023Val)
c.6053A>T (p.Glu2018Val)
c.5957A>T (p.Glu1986Val)
c.5948A>T (p.Glu1983Val)
c.5930A>T (p.Glu1977Val)
c.5924A>T (p.Glu1975Val)
c.5897A>T (p.Glu1966Val)
c.5891A>T (p.Glu1964Val)
c.5873A>T (p.Glu1958Val)
c.5867A>T (p.Glu1956Val)
c.5864A>T (p.Glu1955Val)
c.5840A>T (p.Glu1947Val)
12g.2686191A=CA2012350963CACNA1C,CACNA1C-AS1c.5781A= (p.Glu1927=)
c.5811A= (p.Glu1937=)
c.5886A= (p.Glu1962=)
c.5919A= (p.Glu1973=)
c.5748A= (p.Glu1916=)
c.5796A= (p.Glu1932=)
c.6045A= (p.Glu2015=)
c.5673A= (p.Glu1891=)
c.5706A= (p.Glu1902=)
c.5697A= (p.Glu1899=)
c.5871A= (p.Glu1957=)
n.831A=
n.2209A=
n.836A=
c.5850A= (p.Glu1950=)
c.5829A= (p.Glu1943=)
c.5730A= (p.Glu1910=)
c.5766A= (p.Glu1922=)
c.5763A= (p.Glu1921=)
c.5757A= (p.Glu1919=)
c.5790A= (p.Glu1930=)
c.5724A= (p.Glu1908=)
c.5334A= (p.Glu1778=)
c.5478A= (p.Glu1826=)
c.5373A= (p.Glu1791=)
c.1779A= (p.Glu593=)
c.5409A= (p.Glu1803=)
c.5955A= (p.Glu1985=)
n.333+3949T=
c.5325A= (p.Glu1775=)
c.4770A= (p.Glu1590=)
c.2880A= (p.Glu960=)
c.6024A= (p.Glu2008=)
c.6528A= (p.Glu2176=)
c.6423A= (p.Glu2141=)
c.6210A= (p.Glu2070=)
c.6153A= (p.Glu2051=)
c.6069A= (p.Glu2023=)
c.6054A= (p.Glu2018=)
c.5958A= (p.Glu1986=)
c.5949A= (p.Glu1983=)
c.5931A= (p.Glu1977=)
c.5925A= (p.Glu1975=)
c.5898A= (p.Glu1966=)
c.5892A= (p.Glu1964=)
c.5874A= (p.Glu1958=)
c.5868A= (p.Glu1956=)
c.5865A= (p.Glu1955=)
c.5841A= (p.Glu1947=)
12g.2686191A>CCA383382541CACNA1C,CACNA1C-AS1c.5781A>C (p.Glu1927Asp)
c.5811A>C (p.Glu1937Asp)
c.5886A>C (p.Glu1962Asp)
c.5919A>C (p.Glu1973Asp)
c.5748A>C (p.Glu1916Asp)
c.5796A>C (p.Glu1932Asp)
c.6045A>C (p.Glu2015Asp)
c.5673A>C (p.Glu1891Asp)
c.5706A>C (p.Glu1902Asp)
c.5697A>C (p.Glu1899Asp)
c.5871A>C (p.Glu1957Asp)
n.831A>C
n.2209A>C
n.836A>C
c.5850A>C (p.Glu1950Asp)
c.5829A>C (p.Glu1943Asp)
c.5730A>C (p.Glu1910Asp)
c.5766A>C (p.Glu1922Asp)
c.5763A>C (p.Glu1921Asp)
c.5757A>C (p.Glu1919Asp)
c.5790A>C (p.Glu1930Asp)
c.5724A>C (p.Glu1908Asp)
c.5334A>C (p.Glu1778Asp)
c.5478A>C (p.Glu1826Asp)
c.5373A>C (p.Glu1791Asp)
c.1779A>C (p.Glu593Asp)
c.5409A>C (p.Glu1803Asp)
c.5955A>C (p.Glu1985Asp)
n.333+3949T>G
c.5325A>C (p.Glu1775Asp)
c.4770A>C (p.Glu1590Asp)
c.2880A>C (p.Glu960Asp)
c.6024A>C (p.Glu2008Asp)
c.6528A>C (p.Glu2176Asp)
c.6423A>C (p.Glu2141Asp)
c.6210A>C (p.Glu2070Asp)
c.6153A>C (p.Glu2051Asp)
c.6069A>C (p.Glu2023Asp)
c.6054A>C (p.Glu2018Asp)
c.5958A>C (p.Glu1986Asp)
c.5949A>C (p.Glu1983Asp)
c.5931A>C (p.Glu1977Asp)
c.5925A>C (p.Glu1975Asp)
c.5898A>C (p.Glu1966Asp)
c.5892A>C (p.Glu1964Asp)
c.5874A>C (p.Glu1958Asp)
c.5868A>C (p.Glu1956Asp)
c.5865A>C (p.Glu1955Asp)
c.5841A>C (p.Glu1947Asp)
12g.2686191A>GCA245710CACNA1C,CACNA1C-AS1c.5781A>G (p.Glu1927=)
c.5811A>G (p.Glu1937=)
c.5886A>G (p.Glu1962=)
c.5919A>G (p.Glu1973=)
c.5748A>G (p.Glu1916=)
c.5796A>G (p.Glu1932=)
c.6045A>G (p.Glu2015=)
c.5673A>G (p.Glu1891=)
c.5706A>G (p.Glu1902=)
c.5697A>G (p.Glu1899=)
c.5871A>G (p.Glu1957=)
n.831A>G
n.2209A>G
n.836A>G
c.5850A>G (p.Glu1950=)
c.5829A>G (p.Glu1943=)
c.5730A>G (p.Glu1910=)
c.5766A>G (p.Glu1922=)
c.5763A>G (p.Glu1921=)
c.5757A>G (p.Glu1919=)
c.5790A>G (p.Glu1930=)
c.5724A>G (p.Glu1908=)
c.5334A>G (p.Glu1778=)
c.5478A>G (p.Glu1826=)
c.5373A>G (p.Glu1791=)
c.1779A>G (p.Glu593=)
c.5409A>G (p.Glu1803=)
c.5955A>G (p.Glu1985=)
n.333+3949T>C
c.5325A>G (p.Glu1775=)
c.4770A>G (p.Glu1590=)
c.2880A>G (p.Glu960=)
c.6024A>G (p.Glu2008=)
c.6528A>G (p.Glu2176=)
c.6423A>G (p.Glu2141=)
c.6210A>G (p.Glu2070=)
c.6153A>G (p.Glu2051=)
c.6069A>G (p.Glu2023=)
c.6054A>G (p.Glu2018=)
c.5958A>G (p.Glu1986=)
c.5949A>G (p.Glu1983=)
c.5931A>G (p.Glu1977=)
c.5925A>G (p.Glu1975=)
c.5898A>G (p.Glu1966=)
c.5892A>G (p.Glu1964=)
c.5874A>G (p.Glu1958=)
c.5868A>G (p.Glu1956=)
c.5865A>G (p.Glu1955=)
c.5841A>G (p.Glu1947=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686191A>TCA383382543CACNA1C,CACNA1C-AS1c.5781A>T (p.Glu1927Asp)
c.5811A>T (p.Glu1937Asp)
c.5886A>T (p.Glu1962Asp)
c.5919A>T (p.Glu1973Asp)
c.5748A>T (p.Glu1916Asp)
c.5796A>T (p.Glu1932Asp)
c.6045A>T (p.Glu2015Asp)
c.5673A>T (p.Glu1891Asp)
c.5706A>T (p.Glu1902Asp)
c.5697A>T (p.Glu1899Asp)
c.5871A>T (p.Glu1957Asp)
n.831A>T
n.2209A>T
n.836A>T
c.5850A>T (p.Glu1950Asp)
c.5829A>T (p.Glu1943Asp)
c.5730A>T (p.Glu1910Asp)
c.5766A>T (p.Glu1922Asp)
c.5763A>T (p.Glu1921Asp)
c.5757A>T (p.Glu1919Asp)
c.5790A>T (p.Glu1930Asp)
c.5724A>T (p.Glu1908Asp)
c.5334A>T (p.Glu1778Asp)
c.5478A>T (p.Glu1826Asp)
c.5373A>T (p.Glu1791Asp)
c.1779A>T (p.Glu593Asp)
c.5409A>T (p.Glu1803Asp)
c.5955A>T (p.Glu1985Asp)
n.333+3949T>A
c.5325A>T (p.Glu1775Asp)
c.4770A>T (p.Glu1590Asp)
c.2880A>T (p.Glu960Asp)
c.6024A>T (p.Glu2008Asp)
c.6528A>T (p.Glu2176Asp)
c.6423A>T (p.Glu2141Asp)
c.6210A>T (p.Glu2070Asp)
c.6153A>T (p.Glu2051Asp)
c.6069A>T (p.Glu2023Asp)
c.6054A>T (p.Glu2018Asp)
c.5958A>T (p.Glu1986Asp)
c.5949A>T (p.Glu1983Asp)
c.5931A>T (p.Glu1977Asp)
c.5925A>T (p.Glu1975Asp)
c.5898A>T (p.Glu1966Asp)
c.5892A>T (p.Glu1964Asp)
c.5874A>T (p.Glu1958Asp)
c.5868A>T (p.Glu1956Asp)
c.5865A>T (p.Glu1955Asp)
c.5841A>T (p.Glu1947Asp)
12g.2686192T>ACA383382545CACNA1C,CACNA1C-AS1c.5782T>A (p.Cys1928Ser)
c.5812T>A (p.Cys1938Ser)
c.5887T>A (p.Cys1963Ser)
c.5920T>A (p.Cys1974Ser)
c.5749T>A (p.Cys1917Ser)
c.5797T>A (p.Cys1933Ser)
c.6046T>A (p.Cys2016Ser)
c.5674T>A (p.Cys1892Ser)
c.5707T>A (p.Cys1903Ser)
c.5698T>A (p.Cys1900Ser)
c.5872T>A (p.Cys1958Ser)
n.832T>A
n.2210T>A
n.837T>A
c.5851T>A (p.Cys1951Ser)
c.5830T>A (p.Cys1944Ser)
c.5731T>A (p.Cys1911Ser)
c.5767T>A (p.Cys1923Ser)
c.5764T>A (p.Cys1922Ser)
c.5758T>A (p.Cys1920Ser)
c.5791T>A (p.Cys1931Ser)
c.5725T>A (p.Cys1909Ser)
c.5335T>A (p.Cys1779Ser)
c.5479T>A (p.Cys1827Ser)
c.5374T>A (p.Cys1792Ser)
c.1780T>A (p.Cys594Ser)
c.5410T>A (p.Cys1804Ser)
c.5956T>A (p.Cys1986Ser)
n.333+3948A>T
c.5326T>A (p.Cys1776Ser)
c.4771T>A (p.Cys1591Ser)
c.2881T>A (p.Cys961Ser)
c.6025T>A (p.Cys2009Ser)
c.6529T>A (p.Cys2177Ser)
c.6424T>A (p.Cys2142Ser)
c.6211T>A (p.Cys2071Ser)
c.6154T>A (p.Cys2052Ser)
c.6070T>A (p.Cys2024Ser)
c.6055T>A (p.Cys2019Ser)
c.5959T>A (p.Cys1987Ser)
c.5950T>A (p.Cys1984Ser)
c.5932T>A (p.Cys1978Ser)
c.5926T>A (p.Cys1976Ser)
c.5899T>A (p.Cys1967Ser)
c.5893T>A (p.Cys1965Ser)
c.5875T>A (p.Cys1959Ser)
c.5869T>A (p.Cys1957Ser)
c.5866T>A (p.Cys1956Ser)
c.5842T>A (p.Cys1948Ser)
 gnomAD v4
12g.2686192T>CCA383382546CACNA1C,CACNA1C-AS1c.5782T>C (p.Cys1928Arg)
c.5812T>C (p.Cys1938Arg)
c.5887T>C (p.Cys1963Arg)
c.5920T>C (p.Cys1974Arg)
c.5749T>C (p.Cys1917Arg)
c.5797T>C (p.Cys1933Arg)
c.6046T>C (p.Cys2016Arg)
c.5674T>C (p.Cys1892Arg)
c.5707T>C (p.Cys1903Arg)
c.5698T>C (p.Cys1900Arg)
c.5872T>C (p.Cys1958Arg)
n.832T>C
n.2210T>C
n.837T>C
c.5851T>C (p.Cys1951Arg)
c.5830T>C (p.Cys1944Arg)
c.5731T>C (p.Cys1911Arg)
c.5767T>C (p.Cys1923Arg)
c.5764T>C (p.Cys1922Arg)
c.5758T>C (p.Cys1920Arg)
c.5791T>C (p.Cys1931Arg)
c.5725T>C (p.Cys1909Arg)
c.5335T>C (p.Cys1779Arg)
c.5479T>C (p.Cys1827Arg)
c.5374T>C (p.Cys1792Arg)
c.1780T>C (p.Cys594Arg)
c.5410T>C (p.Cys1804Arg)
c.5956T>C (p.Cys1986Arg)
n.333+3948A>G
c.5326T>C (p.Cys1776Arg)
c.4771T>C (p.Cys1591Arg)
c.2881T>C (p.Cys961Arg)
c.6025T>C (p.Cys2009Arg)
c.6529T>C (p.Cys2177Arg)
c.6424T>C (p.Cys2142Arg)
c.6211T>C (p.Cys2071Arg)
c.6154T>C (p.Cys2052Arg)
c.6070T>C (p.Cys2024Arg)
c.6055T>C (p.Cys2019Arg)
c.5959T>C (p.Cys1987Arg)
c.5950T>C (p.Cys1984Arg)
c.5932T>C (p.Cys1978Arg)
c.5926T>C (p.Cys1976Arg)
c.5899T>C (p.Cys1967Arg)
c.5893T>C (p.Cys1965Arg)
c.5875T>C (p.Cys1959Arg)
c.5869T>C (p.Cys1957Arg)
c.5866T>C (p.Cys1956Arg)
c.5842T>C (p.Cys1948Arg)
 gnomAD v4
12g.2686192T>GCA383382549CACNA1C,CACNA1C-AS1c.5782T>G (p.Cys1928Gly)
c.5812T>G (p.Cys1938Gly)
c.5887T>G (p.Cys1963Gly)
c.5920T>G (p.Cys1974Gly)
c.5749T>G (p.Cys1917Gly)
c.5797T>G (p.Cys1933Gly)
c.6046T>G (p.Cys2016Gly)
c.5674T>G (p.Cys1892Gly)
c.5707T>G (p.Cys1903Gly)
c.5698T>G (p.Cys1900Gly)
c.5872T>G (p.Cys1958Gly)
n.832T>G
n.2210T>G
n.837T>G
c.5851T>G (p.Cys1951Gly)
c.5830T>G (p.Cys1944Gly)
c.5731T>G (p.Cys1911Gly)
c.5767T>G (p.Cys1923Gly)
c.5764T>G (p.Cys1922Gly)
c.5758T>G (p.Cys1920Gly)
c.5791T>G (p.Cys1931Gly)
c.5725T>G (p.Cys1909Gly)
c.5335T>G (p.Cys1779Gly)
c.5479T>G (p.Cys1827Gly)
c.5374T>G (p.Cys1792Gly)
c.1780T>G (p.Cys594Gly)
c.5410T>G (p.Cys1804Gly)
c.5956T>G (p.Cys1986Gly)
n.333+3948A>C
c.5326T>G (p.Cys1776Gly)
c.4771T>G (p.Cys1591Gly)
c.2881T>G (p.Cys961Gly)
c.6025T>G (p.Cys2009Gly)
c.6529T>G (p.Cys2177Gly)
c.6424T>G (p.Cys2142Gly)
c.6211T>G (p.Cys2071Gly)
c.6154T>G (p.Cys2052Gly)
c.6070T>G (p.Cys2024Gly)
c.6055T>G (p.Cys2019Gly)
c.5959T>G (p.Cys1987Gly)
c.5950T>G (p.Cys1984Gly)
c.5932T>G (p.Cys1978Gly)
c.5926T>G (p.Cys1976Gly)
c.5899T>G (p.Cys1967Gly)
c.5893T>G (p.Cys1965Gly)
c.5875T>G (p.Cys1959Gly)
c.5869T>G (p.Cys1957Gly)
c.5866T>G (p.Cys1956Gly)
c.5842T>G (p.Cys1948Gly)
12g.2686193G>ACA383382551CACNA1C,CACNA1C-AS1c.5783G>A (p.Cys1928Tyr)
c.5813G>A (p.Cys1938Tyr)
c.5888G>A (p.Cys1963Tyr)
c.5921G>A (p.Cys1974Tyr)
c.5750G>A (p.Cys1917Tyr)
c.5798G>A (p.Cys1933Tyr)
c.6047G>A (p.Cys2016Tyr)
c.5675G>A (p.Cys1892Tyr)
c.5708G>A (p.Cys1903Tyr)
c.5699G>A (p.Cys1900Tyr)
c.5873G>A (p.Cys1958Tyr)
n.833G>A
n.2211G>A
n.838G>A
c.5852G>A (p.Cys1951Tyr)
c.5831G>A (p.Cys1944Tyr)
c.5732G>A (p.Cys1911Tyr)
c.5768G>A (p.Cys1923Tyr)
c.5765G>A (p.Cys1922Tyr)
c.5759G>A (p.Cys1920Tyr)
c.5792G>A (p.Cys1931Tyr)
c.5726G>A (p.Cys1909Tyr)
c.5336G>A (p.Cys1779Tyr)
c.5480G>A (p.Cys1827Tyr)
c.5375G>A (p.Cys1792Tyr)
c.1781G>A (p.Cys594Tyr)
c.5411G>A (p.Cys1804Tyr)
c.5957G>A (p.Cys1986Tyr)
n.333+3947C>T
c.5327G>A (p.Cys1776Tyr)
c.4772G>A (p.Cys1591Tyr)
c.2882G>A (p.Cys961Tyr)
c.6026G>A (p.Cys2009Tyr)
c.6530G>A (p.Cys2177Tyr)
c.6425G>A (p.Cys2142Tyr)
c.6212G>A (p.Cys2071Tyr)
c.6155G>A (p.Cys2052Tyr)
c.6071G>A (p.Cys2024Tyr)
c.6056G>A (p.Cys2019Tyr)
c.5960G>A (p.Cys1987Tyr)
c.5951G>A (p.Cys1984Tyr)
c.5933G>A (p.Cys1978Tyr)
c.5927G>A (p.Cys1976Tyr)
c.5900G>A (p.Cys1967Tyr)
c.5894G>A (p.Cys1965Tyr)
c.5876G>A (p.Cys1959Tyr)
c.5870G>A (p.Cys1957Tyr)
c.5867G>A (p.Cys1956Tyr)
c.5843G>A (p.Cys1948Tyr)
12g.2686193G>CCA383382555CACNA1C,CACNA1C-AS1c.5783G>C (p.Cys1928Ser)
c.5813G>C (p.Cys1938Ser)
c.5888G>C (p.Cys1963Ser)
c.5921G>C (p.Cys1974Ser)
c.5750G>C (p.Cys1917Ser)
c.5798G>C (p.Cys1933Ser)
c.6047G>C (p.Cys2016Ser)
c.5675G>C (p.Cys1892Ser)
c.5708G>C (p.Cys1903Ser)
c.5699G>C (p.Cys1900Ser)
c.5873G>C (p.Cys1958Ser)
n.833G>C
n.2211G>C
n.838G>C
c.5852G>C (p.Cys1951Ser)
c.5831G>C (p.Cys1944Ser)
c.5732G>C (p.Cys1911Ser)
c.5768G>C (p.Cys1923Ser)
c.5765G>C (p.Cys1922Ser)
c.5759G>C (p.Cys1920Ser)
c.5792G>C (p.Cys1931Ser)
c.5726G>C (p.Cys1909Ser)
c.5336G>C (p.Cys1779Ser)
c.5480G>C (p.Cys1827Ser)
c.5375G>C (p.Cys1792Ser)
c.1781G>C (p.Cys594Ser)
c.5411G>C (p.Cys1804Ser)
c.5957G>C (p.Cys1986Ser)
n.333+3947C>G
c.5327G>C (p.Cys1776Ser)
c.4772G>C (p.Cys1591Ser)
c.2882G>C (p.Cys961Ser)
c.6026G>C (p.Cys2009Ser)
c.6530G>C (p.Cys2177Ser)
c.6425G>C (p.Cys2142Ser)
c.6212G>C (p.Cys2071Ser)
c.6155G>C (p.Cys2052Ser)
c.6071G>C (p.Cys2024Ser)
c.6056G>C (p.Cys2019Ser)
c.5960G>C (p.Cys1987Ser)
c.5951G>C (p.Cys1984Ser)
c.5933G>C (p.Cys1978Ser)
c.5927G>C (p.Cys1976Ser)
c.5900G>C (p.Cys1967Ser)
c.5894G>C (p.Cys1965Ser)
c.5876G>C (p.Cys1959Ser)
c.5870G>C (p.Cys1957Ser)
c.5867G>C (p.Cys1956Ser)
c.5843G>C (p.Cys1948Ser)
12g.2686193G>TCA383382553CACNA1C,CACNA1C-AS1c.5783G>T (p.Cys1928Phe)
c.5813G>T (p.Cys1938Phe)
c.5888G>T (p.Cys1963Phe)
c.5921G>T (p.Cys1974Phe)
c.5750G>T (p.Cys1917Phe)
c.5798G>T (p.Cys1933Phe)
c.6047G>T (p.Cys2016Phe)
c.5675G>T (p.Cys1892Phe)
c.5708G>T (p.Cys1903Phe)
c.5699G>T (p.Cys1900Phe)
c.5873G>T (p.Cys1958Phe)
n.833G>T
n.2211G>T
n.838G>T
c.5852G>T (p.Cys1951Phe)
c.5831G>T (p.Cys1944Phe)
c.5732G>T (p.Cys1911Phe)
c.5768G>T (p.Cys1923Phe)
c.5765G>T (p.Cys1922Phe)
c.5759G>T (p.Cys1920Phe)
c.5792G>T (p.Cys1931Phe)
c.5726G>T (p.Cys1909Phe)
c.5336G>T (p.Cys1779Phe)
c.5480G>T (p.Cys1827Phe)
c.5375G>T (p.Cys1792Phe)
c.1781G>T (p.Cys594Phe)
c.5411G>T (p.Cys1804Phe)
c.5957G>T (p.Cys1986Phe)
n.333+3947C>A
c.5327G>T (p.Cys1776Phe)
c.4772G>T (p.Cys1591Phe)
c.2882G>T (p.Cys961Phe)
c.6026G>T (p.Cys2009Phe)
c.6530G>T (p.Cys2177Phe)
c.6425G>T (p.Cys2142Phe)
c.6212G>T (p.Cys2071Phe)
c.6155G>T (p.Cys2052Phe)
c.6071G>T (p.Cys2024Phe)
c.6056G>T (p.Cys2019Phe)
c.5960G>T (p.Cys1987Phe)
c.5951G>T (p.Cys1984Phe)
c.5933G>T (p.Cys1978Phe)
c.5927G>T (p.Cys1976Phe)
c.5900G>T (p.Cys1967Phe)
c.5894G>T (p.Cys1965Phe)
c.5876G>T (p.Cys1959Phe)
c.5870G>T (p.Cys1957Phe)
c.5867G>T (p.Cys1956Phe)
c.5843G>T (p.Cys1948Phe)
12g.2686194T>ACA383382556CACNA1C,CACNA1C-AS1c.5784T>A (p.Cys1928Ter)
c.5814T>A (p.Cys1938Ter)
c.5889T>A (p.Cys1963Ter)
c.5922T>A (p.Cys1974Ter)
c.5751T>A (p.Cys1917Ter)
c.5799T>A (p.Cys1933Ter)
c.6048T>A (p.Cys2016Ter)
c.5676T>A (p.Cys1892Ter)
c.5709T>A (p.Cys1903Ter)
c.5700T>A (p.Cys1900Ter)
c.5874T>A (p.Cys1958Ter)
n.834T>A
n.2212T>A
n.839T>A
c.5853T>A (p.Cys1951Ter)
c.5832T>A (p.Cys1944Ter)
c.5733T>A (p.Cys1911Ter)
c.5769T>A (p.Cys1923Ter)
c.5766T>A (p.Cys1922Ter)
c.5760T>A (p.Cys1920Ter)
c.5793T>A (p.Cys1931Ter)
c.5727T>A (p.Cys1909Ter)
c.5337T>A (p.Cys1779Ter)
c.5481T>A (p.Cys1827Ter)
c.5376T>A (p.Cys1792Ter)
c.1782T>A (p.Cys594Ter)
c.5412T>A (p.Cys1804Ter)
c.5958T>A (p.Cys1986Ter)
n.333+3946A>T
c.5328T>A (p.Cys1776Ter)
c.4773T>A (p.Cys1591Ter)
c.2883T>A (p.Cys961Ter)
c.6027T>A (p.Cys2009Ter)
c.6531T>A (p.Cys2177Ter)
c.6426T>A (p.Cys2142Ter)
c.6213T>A (p.Cys2071Ter)
c.6156T>A (p.Cys2052Ter)
c.6072T>A (p.Cys2024Ter)
c.6057T>A (p.Cys2019Ter)
c.5961T>A (p.Cys1987Ter)
c.5952T>A (p.Cys1984Ter)
c.5934T>A (p.Cys1978Ter)
c.5928T>A (p.Cys1976Ter)
c.5901T>A (p.Cys1967Ter)
c.5895T>A (p.Cys1965Ter)
c.5877T>A (p.Cys1959Ter)
c.5871T>A (p.Cys1957Ter)
c.5868T>A (p.Cys1956Ter)
c.5844T>A (p.Cys1948Ter)
 dbSNP
12g.2686194T>CCA477902486CACNA1C,CACNA1C-AS1c.5784T>C (p.Cys1928=)
c.5814T>C (p.Cys1938=)
c.5889T>C (p.Cys1963=)
c.5922T>C (p.Cys1974=)
c.5751T>C (p.Cys1917=)
c.5799T>C (p.Cys1933=)
c.6048T>C (p.Cys2016=)
c.5676T>C (p.Cys1892=)
c.5709T>C (p.Cys1903=)
c.5700T>C (p.Cys1900=)
c.5874T>C (p.Cys1958=)
n.834T>C
n.2212T>C
n.839T>C
c.5853T>C (p.Cys1951=)
c.5832T>C (p.Cys1944=)
c.5733T>C (p.Cys1911=)
c.5769T>C (p.Cys1923=)
c.5766T>C (p.Cys1922=)
c.5760T>C (p.Cys1920=)
c.5793T>C (p.Cys1931=)
c.5727T>C (p.Cys1909=)
c.5337T>C (p.Cys1779=)
c.5481T>C (p.Cys1827=)
c.5376T>C (p.Cys1792=)
c.1782T>C (p.Cys594=)
c.5412T>C (p.Cys1804=)
c.5958T>C (p.Cys1986=)
n.333+3946A>G
c.5328T>C (p.Cys1776=)
c.4773T>C (p.Cys1591=)
c.2883T>C (p.Cys961=)
c.6027T>C (p.Cys2009=)
c.6531T>C (p.Cys2177=)
c.6426T>C (p.Cys2142=)
c.6213T>C (p.Cys2071=)
c.6156T>C (p.Cys2052=)
c.6072T>C (p.Cys2024=)
c.6057T>C (p.Cys2019=)
c.5961T>C (p.Cys1987=)
c.5952T>C (p.Cys1984=)
c.5934T>C (p.Cys1978=)
c.5928T>C (p.Cys1976=)
c.5901T>C (p.Cys1967=)
c.5895T>C (p.Cys1965=)
c.5877T>C (p.Cys1959=)
c.5871T>C (p.Cys1957=)
c.5868T>C (p.Cys1956=)
c.5844T>C (p.Cys1948=)
12g.2686194T>GCA383382558CACNA1C,CACNA1C-AS1c.5784T>G (p.Cys1928Trp)
c.5814T>G (p.Cys1938Trp)
c.5889T>G (p.Cys1963Trp)
c.5922T>G (p.Cys1974Trp)
c.5751T>G (p.Cys1917Trp)
c.5799T>G (p.Cys1933Trp)
c.6048T>G (p.Cys2016Trp)
c.5676T>G (p.Cys1892Trp)
c.5709T>G (p.Cys1903Trp)
c.5700T>G (p.Cys1900Trp)
c.5874T>G (p.Cys1958Trp)
n.834T>G
n.2212T>G
n.839T>G
c.5853T>G (p.Cys1951Trp)
c.5832T>G (p.Cys1944Trp)
c.5733T>G (p.Cys1911Trp)
c.5769T>G (p.Cys1923Trp)
c.5766T>G (p.Cys1922Trp)
c.5760T>G (p.Cys1920Trp)
c.5793T>G (p.Cys1931Trp)
c.5727T>G (p.Cys1909Trp)
c.5337T>G (p.Cys1779Trp)
c.5481T>G (p.Cys1827Trp)
c.5376T>G (p.Cys1792Trp)
c.1782T>G (p.Cys594Trp)
c.5412T>G (p.Cys1804Trp)
c.5958T>G (p.Cys1986Trp)
n.333+3946A>C
c.5328T>G (p.Cys1776Trp)
c.4773T>G (p.Cys1591Trp)
c.2883T>G (p.Cys961Trp)
c.6027T>G (p.Cys2009Trp)
c.6531T>G (p.Cys2177Trp)
c.6426T>G (p.Cys2142Trp)
c.6213T>G (p.Cys2071Trp)
c.6156T>G (p.Cys2052Trp)
c.6072T>G (p.Cys2024Trp)
c.6057T>G (p.Cys2019Trp)
c.5961T>G (p.Cys1987Trp)
c.5952T>G (p.Cys1984Trp)
c.5934T>G (p.Cys1978Trp)
c.5928T>G (p.Cys1976Trp)
c.5901T>G (p.Cys1967Trp)
c.5895T>G (p.Cys1965Trp)
c.5877T>G (p.Cys1959Trp)
c.5871T>G (p.Cys1957Trp)
c.5868T>G (p.Cys1956Trp)
c.5844T>G (p.Cys1948Trp)
12g.2686194T=CA2012350964CACNA1C,CACNA1C-AS1c.5784T= (p.Cys1928=)
c.5814T= (p.Cys1938=)
c.5889T= (p.Cys1963=)
c.5922T= (p.Cys1974=)
c.5751T= (p.Cys1917=)
c.5799T= (p.Cys1933=)
c.6048T= (p.Cys2016=)
c.5676T= (p.Cys1892=)
c.5709T= (p.Cys1903=)
c.5700T= (p.Cys1900=)
c.5874T= (p.Cys1958=)
n.834T=
n.2212T=
n.839T=
c.5853T= (p.Cys1951=)
c.5832T= (p.Cys1944=)
c.5733T= (p.Cys1911=)
c.5769T= (p.Cys1923=)
c.5766T= (p.Cys1922=)
c.5760T= (p.Cys1920=)
c.5793T= (p.Cys1931=)
c.5727T= (p.Cys1909=)
c.5337T= (p.Cys1779=)
c.5481T= (p.Cys1827=)
c.5376T= (p.Cys1792=)
c.1782T= (p.Cys594=)
c.5412T= (p.Cys1804=)
c.5958T= (p.Cys1986=)
n.333+3946A=
c.5328T= (p.Cys1776=)
c.4773T= (p.Cys1591=)
c.2883T= (p.Cys961=)
c.6027T= (p.Cys2009=)
c.6531T= (p.Cys2177=)
c.6426T= (p.Cys2142=)
c.6213T= (p.Cys2071=)
c.6156T= (p.Cys2052=)
c.6072T= (p.Cys2024=)
c.6057T= (p.Cys2019=)
c.5961T= (p.Cys1987=)
c.5952T= (p.Cys1984=)
c.5934T= (p.Cys1978=)
c.5928T= (p.Cys1976=)
c.5901T= (p.Cys1967=)
c.5895T= (p.Cys1965=)
c.5877T= (p.Cys1959=)
c.5871T= (p.Cys1957=)
c.5868T= (p.Cys1956=)
c.5844T= (p.Cys1948=)
12g.2686195C>ACA383382561CACNA1C,CACNA1C-AS1c.5785C>A (p.Leu1929Met)
c.5815C>A (p.Leu1939Met)
c.5890C>A (p.Leu1964Met)
c.5923C>A (p.Leu1975Met)
c.5752C>A (p.Leu1918Met)
c.5800C>A (p.Leu1934Met)
c.6049C>A (p.Leu2017Met)
c.5677C>A (p.Leu1893Met)
c.5710C>A (p.Leu1904Met)
c.5701C>A (p.Leu1901Met)
c.5875C>A (p.Leu1959Met)
n.835C>A
n.2213C>A
n.840C>A
c.5854C>A (p.Leu1952Met)
c.5833C>A (p.Leu1945Met)
c.5734C>A (p.Leu1912Met)
c.5770C>A (p.Leu1924Met)
c.5767C>A (p.Leu1923Met)
c.5761C>A (p.Leu1921Met)
c.5794C>A (p.Leu1932Met)
c.5728C>A (p.Leu1910Met)
c.5338C>A (p.Leu1780Met)
c.5482C>A (p.Leu1828Met)
c.5377C>A (p.Leu1793Met)
c.1783C>A (p.Leu595Met)
c.5413C>A (p.Leu1805Met)
c.5959C>A (p.Leu1987Met)
n.333+3945G>T
c.5329C>A (p.Leu1777Met)
c.4774C>A (p.Leu1592Met)
c.2884C>A (p.Leu962Met)
c.6028C>A (p.Leu2010Met)
c.6532C>A (p.Leu2178Met)
c.6427C>A (p.Leu2143Met)
c.6214C>A (p.Leu2072Met)
c.6157C>A (p.Leu2053Met)
c.6073C>A (p.Leu2025Met)
c.6058C>A (p.Leu2020Met)
c.5962C>A (p.Leu1988Met)
c.5953C>A (p.Leu1985Met)
c.5935C>A (p.Leu1979Met)
c.5929C>A (p.Leu1977Met)
c.5902C>A (p.Leu1968Met)
c.5896C>A (p.Leu1966Met)
c.5878C>A (p.Leu1960Met)
c.5872C>A (p.Leu1958Met)
c.5869C>A (p.Leu1957Met)
c.5845C>A (p.Leu1949Met)
12g.2686195C>GCA383382562CACNA1C,CACNA1C-AS1c.5785C>G (p.Leu1929Val)
c.5815C>G (p.Leu1939Val)
c.5890C>G (p.Leu1964Val)
c.5923C>G (p.Leu1975Val)
c.5752C>G (p.Leu1918Val)
c.5800C>G (p.Leu1934Val)
c.6049C>G (p.Leu2017Val)
c.5677C>G (p.Leu1893Val)
c.5710C>G (p.Leu1904Val)
c.5701C>G (p.Leu1901Val)
c.5875C>G (p.Leu1959Val)
n.835C>G
n.2213C>G
n.840C>G
c.5854C>G (p.Leu1952Val)
c.5833C>G (p.Leu1945Val)
c.5734C>G (p.Leu1912Val)
c.5770C>G (p.Leu1924Val)
c.5767C>G (p.Leu1923Val)
c.5761C>G (p.Leu1921Val)
c.5794C>G (p.Leu1932Val)
c.5728C>G (p.Leu1910Val)
c.5338C>G (p.Leu1780Val)
c.5482C>G (p.Leu1828Val)
c.5377C>G (p.Leu1793Val)
c.1783C>G (p.Leu595Val)
c.5413C>G (p.Leu1805Val)
c.5959C>G (p.Leu1987Val)
n.333+3945G>C
c.5329C>G (p.Leu1777Val)
c.4774C>G (p.Leu1592Val)
c.2884C>G (p.Leu962Val)
c.6028C>G (p.Leu2010Val)
c.6532C>G (p.Leu2178Val)
c.6427C>G (p.Leu2143Val)
c.6214C>G (p.Leu2072Val)
c.6157C>G (p.Leu2053Val)
c.6073C>G (p.Leu2025Val)
c.6058C>G (p.Leu2020Val)
c.5962C>G (p.Leu1988Val)
c.5953C>G (p.Leu1985Val)
c.5935C>G (p.Leu1979Val)
c.5929C>G (p.Leu1977Val)
c.5902C>G (p.Leu1968Val)
c.5896C>G (p.Leu1966Val)
c.5878C>G (p.Leu1960Val)
c.5872C>G (p.Leu1958Val)
c.5869C>G (p.Leu1957Val)
c.5845C>G (p.Leu1949Val)
12g.2686195C>TCA477902497CACNA1C,CACNA1C-AS1c.5785C>T (p.Leu1929=)
c.5815C>T (p.Leu1939=)
c.5890C>T (p.Leu1964=)
c.5923C>T (p.Leu1975=)
c.5752C>T (p.Leu1918=)
c.5800C>T (p.Leu1934=)
c.6049C>T (p.Leu2017=)
c.5677C>T (p.Leu1893=)
c.5710C>T (p.Leu1904=)
c.5701C>T (p.Leu1901=)
c.5875C>T (p.Leu1959=)
n.835C>T
n.2213C>T
n.840C>T
c.5854C>T (p.Leu1952=)
c.5833C>T (p.Leu1945=)
c.5734C>T (p.Leu1912=)
c.5770C>T (p.Leu1924=)
c.5767C>T (p.Leu1923=)
c.5761C>T (p.Leu1921=)
c.5794C>T (p.Leu1932=)
c.5728C>T (p.Leu1910=)
c.5338C>T (p.Leu1780=)
c.5482C>T (p.Leu1828=)
c.5377C>T (p.Leu1793=)
c.1783C>T (p.Leu595=)
c.5413C>T (p.Leu1805=)
c.5959C>T (p.Leu1987=)
n.333+3945G>A
c.5329C>T (p.Leu1777=)
c.4774C>T (p.Leu1592=)
c.2884C>T (p.Leu962=)
c.6028C>T (p.Leu2010=)
c.6532C>T (p.Leu2178=)
c.6427C>T (p.Leu2143=)
c.6214C>T (p.Leu2072=)
c.6157C>T (p.Leu2053=)
c.6073C>T (p.Leu2025=)
c.6058C>T (p.Leu2020=)
c.5962C>T (p.Leu1988=)
c.5953C>T (p.Leu1985=)
c.5935C>T (p.Leu1979=)
c.5929C>T (p.Leu1977=)
c.5902C>T (p.Leu1968=)
c.5896C>T (p.Leu1966=)
c.5878C>T (p.Leu1960=)
c.5872C>T (p.Leu1958=)
c.5869C>T (p.Leu1957=)
c.5845C>T (p.Leu1949=)
12g.2686196T>ACA383382565CACNA1C,CACNA1C-AS1c.5786T>A (p.Leu1929Gln)
c.5816T>A (p.Leu1939Gln)
c.5891T>A (p.Leu1964Gln)
c.5924T>A (p.Leu1975Gln)
c.5753T>A (p.Leu1918Gln)
c.5801T>A (p.Leu1934Gln)
c.6050T>A (p.Leu2017Gln)
c.5678T>A (p.Leu1893Gln)
c.5711T>A (p.Leu1904Gln)
c.5702T>A (p.Leu1901Gln)
c.5876T>A (p.Leu1959Gln)
n.836T>A
n.2214T>A
n.841T>A
c.5855T>A (p.Leu1952Gln)
c.5834T>A (p.Leu1945Gln)
c.5735T>A (p.Leu1912Gln)
c.5771T>A (p.Leu1924Gln)
c.5768T>A (p.Leu1923Gln)
c.5762T>A (p.Leu1921Gln)
c.5795T>A (p.Leu1932Gln)
c.5729T>A (p.Leu1910Gln)
c.5339T>A (p.Leu1780Gln)
c.5483T>A (p.Leu1828Gln)
c.5378T>A (p.Leu1793Gln)
c.1784T>A (p.Leu595Gln)
c.5414T>A (p.Leu1805Gln)
c.5960T>A (p.Leu1987Gln)
n.333+3944A>T
c.5330T>A (p.Leu1777Gln)
c.4775T>A (p.Leu1592Gln)
c.2885T>A (p.Leu962Gln)
c.6029T>A (p.Leu2010Gln)
c.6533T>A (p.Leu2178Gln)
c.6428T>A (p.Leu2143Gln)
c.6215T>A (p.Leu2072Gln)
c.6158T>A (p.Leu2053Gln)
c.6074T>A (p.Leu2025Gln)
c.6059T>A (p.Leu2020Gln)
c.5963T>A (p.Leu1988Gln)
c.5954T>A (p.Leu1985Gln)
c.5936T>A (p.Leu1979Gln)
c.5930T>A (p.Leu1977Gln)
c.5903T>A (p.Leu1968Gln)
c.5897T>A (p.Leu1966Gln)
c.5879T>A (p.Leu1960Gln)
c.5873T>A (p.Leu1958Gln)
c.5870T>A (p.Leu1957Gln)
c.5846T>A (p.Leu1949Gln)
12g.2686196T>CCA383382567CACNA1C,CACNA1C-AS1c.5786T>C (p.Leu1929Pro)
c.5816T>C (p.Leu1939Pro)
c.5891T>C (p.Leu1964Pro)
c.5924T>C (p.Leu1975Pro)
c.5753T>C (p.Leu1918Pro)
c.5801T>C (p.Leu1934Pro)
c.6050T>C (p.Leu2017Pro)
c.5678T>C (p.Leu1893Pro)
c.5711T>C (p.Leu1904Pro)
c.5702T>C (p.Leu1901Pro)
c.5876T>C (p.Leu1959Pro)
n.836T>C
n.2214T>C
n.841T>C
c.5855T>C (p.Leu1952Pro)
c.5834T>C (p.Leu1945Pro)
c.5735T>C (p.Leu1912Pro)
c.5771T>C (p.Leu1924Pro)
c.5768T>C (p.Leu1923Pro)
c.5762T>C (p.Leu1921Pro)
c.5795T>C (p.Leu1932Pro)
c.5729T>C (p.Leu1910Pro)
c.5339T>C (p.Leu1780Pro)
c.5483T>C (p.Leu1828Pro)
c.5378T>C (p.Leu1793Pro)
c.1784T>C (p.Leu595Pro)
c.5414T>C (p.Leu1805Pro)
c.5960T>C (p.Leu1987Pro)
n.333+3944A>G
c.5330T>C (p.Leu1777Pro)
c.4775T>C (p.Leu1592Pro)
c.2885T>C (p.Leu962Pro)
c.6029T>C (p.Leu2010Pro)
c.6533T>C (p.Leu2178Pro)
c.6428T>C (p.Leu2143Pro)
c.6215T>C (p.Leu2072Pro)
c.6158T>C (p.Leu2053Pro)
c.6074T>C (p.Leu2025Pro)
c.6059T>C (p.Leu2020Pro)
c.5963T>C (p.Leu1988Pro)
c.5954T>C (p.Leu1985Pro)
c.5936T>C (p.Leu1979Pro)
c.5930T>C (p.Leu1977Pro)
c.5903T>C (p.Leu1968Pro)
c.5897T>C (p.Leu1966Pro)
c.5879T>C (p.Leu1960Pro)
c.5873T>C (p.Leu1958Pro)
c.5870T>C (p.Leu1957Pro)
c.5846T>C (p.Leu1949Pro)
12g.2686196T>GCA383382569CACNA1C,CACNA1C-AS1c.5786T>G (p.Leu1929Arg)
c.5816T>G (p.Leu1939Arg)
c.5891T>G (p.Leu1964Arg)
c.5924T>G (p.Leu1975Arg)
c.5753T>G (p.Leu1918Arg)
c.5801T>G (p.Leu1934Arg)
c.6050T>G (p.Leu2017Arg)
c.5678T>G (p.Leu1893Arg)
c.5711T>G (p.Leu1904Arg)
c.5702T>G (p.Leu1901Arg)
c.5876T>G (p.Leu1959Arg)
n.836T>G
n.2214T>G
n.841T>G
c.5855T>G (p.Leu1952Arg)
c.5834T>G (p.Leu1945Arg)
c.5735T>G (p.Leu1912Arg)
c.5771T>G (p.Leu1924Arg)
c.5768T>G (p.Leu1923Arg)
c.5762T>G (p.Leu1921Arg)
c.5795T>G (p.Leu1932Arg)
c.5729T>G (p.Leu1910Arg)
c.5339T>G (p.Leu1780Arg)
c.5483T>G (p.Leu1828Arg)
c.5378T>G (p.Leu1793Arg)
c.1784T>G (p.Leu595Arg)
c.5414T>G (p.Leu1805Arg)
c.5960T>G (p.Leu1987Arg)
n.333+3944A>C
c.5330T>G (p.Leu1777Arg)
c.4775T>G (p.Leu1592Arg)
c.2885T>G (p.Leu962Arg)
c.6029T>G (p.Leu2010Arg)
c.6533T>G (p.Leu2178Arg)
c.6428T>G (p.Leu2143Arg)
c.6215T>G (p.Leu2072Arg)
c.6158T>G (p.Leu2053Arg)
c.6074T>G (p.Leu2025Arg)
c.6059T>G (p.Leu2020Arg)
c.5963T>G (p.Leu1988Arg)
c.5954T>G (p.Leu1985Arg)
c.5936T>G (p.Leu1979Arg)
c.5930T>G (p.Leu1977Arg)
c.5903T>G (p.Leu1968Arg)
c.5897T>G (p.Leu1966Arg)
c.5879T>G (p.Leu1960Arg)
c.5873T>G (p.Leu1958Arg)
c.5870T>G (p.Leu1957Arg)
c.5846T>G (p.Leu1949Arg)
12g.2686196_2686197delCA2580085120CACNA1C,CACNA1C-AS1c.5786_5787del (p.Leu1929GlnfsTer?)
c.5816_5817del (p.Leu1939GlnfsTer?)
c.5891_5892del (p.Leu1964GlnfsTer?)
c.5924_5925del (p.Leu1975GlnfsTer?)
c.5753_5754del (p.Leu1918GlnfsTer?)
c.5801_5802del (p.Leu1934GlnfsTer?)
c.6050_6051del (p.Leu2017GlnfsTer?)
c.5678_5679del (p.Leu1893GlnfsTer?)
c.5711_5712del (p.Leu1904GlnfsTer?)
c.5702_5703del (p.Leu1901GlnfsTer?)
c.5876_5877del (p.Leu1959GlnfsTer?)
n.836_837del
n.2214_2215del
n.841_842del
c.5855_5856del (p.Leu1952GlnfsTer?)
c.5834_5835del (p.Leu1945GlnfsTer?)
c.5735_5736del (p.Leu1912GlnfsTer?)
c.5771_5772del (p.Leu1924GlnfsTer?)
c.5768_5769del (p.Leu1923GlnfsTer?)
c.5762_5763del (p.Leu1921GlnfsTer?)
c.5795_5796del (p.Leu1932GlnfsTer?)
c.5729_5730del (p.Leu1910GlnfsTer?)
c.5339_5340del (p.Leu1780GlnfsTer?)
c.5483_5484del (p.Leu1828GlnfsTer?)
c.5378_5379del (p.Leu1793GlnfsTer?)
c.1784_1785del (p.Leu595GlnfsTer?)
c.5414_5415del (p.Leu1805GlnfsTer?)
c.5960_5961del (p.Leu1987GlnfsTer?)
n.333+3943_333+3944del
c.5330_5331del (p.Leu1777GlnfsTer?)
c.4775_4776del (p.Leu1592GlnfsTer?)
c.2885_2886del (p.Leu962GlnfsTer?)
c.6029_6030del (p.Leu2010GlnfsTer?)
c.6533_6534del (p.Leu2178GlnfsTer?)
c.6428_6429del (p.Leu2143GlnfsTer?)
c.6215_6216del (p.Leu2072GlnfsTer?)
c.6158_6159del (p.Leu2053GlnfsTer?)
c.6074_6075del (p.Leu2025GlnfsTer?)
c.6059_6060del (p.Leu2020GlnfsTer?)
c.5963_5964del (p.Leu1988GlnfsTer?)
c.5954_5955del (p.Leu1985GlnfsTer?)
c.5936_5937del (p.Leu1979GlnfsTer?)
c.5930_5931del (p.Leu1977GlnfsTer?)
c.5903_5904del (p.Leu1968GlnfsTer?)
c.5897_5898del (p.Leu1966GlnfsTer?)
c.5879_5880del (p.Leu1960GlnfsTer?)
c.5873_5874del (p.Leu1958GlnfsTer?)
c.5870_5871del (p.Leu1957GlnfsTer?)
c.5846_5847del (p.Leu1949GlnfsTer?)
 ClinVar
12g.2686197G>ACA477902502CACNA1C,CACNA1C-AS1c.5787G>A (p.Leu1929=)
c.5817G>A (p.Leu1939=)
c.5892G>A (p.Leu1964=)
c.5925G>A (p.Leu1975=)
c.5754G>A (p.Leu1918=)
c.5802G>A (p.Leu1934=)
c.6051G>A (p.Leu2017=)
c.5679G>A (p.Leu1893=)
c.5712G>A (p.Leu1904=)
c.5703G>A (p.Leu1901=)
c.5877G>A (p.Leu1959=)
n.837G>A
n.2215G>A
n.842G>A
c.5856G>A (p.Leu1952=)
c.5835G>A (p.Leu1945=)
c.5736G>A (p.Leu1912=)
c.5772G>A (p.Leu1924=)
c.5769G>A (p.Leu1923=)
c.5763G>A (p.Leu1921=)
c.5796G>A (p.Leu1932=)
c.5730G>A (p.Leu1910=)
c.5340G>A (p.Leu1780=)
c.5484G>A (p.Leu1828=)
c.5379G>A (p.Leu1793=)
c.1785G>A (p.Leu595=)
c.5415G>A (p.Leu1805=)
c.5961G>A (p.Leu1987=)
n.333+3943C>T
c.5331G>A (p.Leu1777=)
c.4776G>A (p.Leu1592=)
c.2886G>A (p.Leu962=)
c.6030G>A (p.Leu2010=)
c.6534G>A (p.Leu2178=)
c.6429G>A (p.Leu2143=)
c.6216G>A (p.Leu2072=)
c.6159G>A (p.Leu2053=)
c.6075G>A (p.Leu2025=)
c.6060G>A (p.Leu2020=)
c.5964G>A (p.Leu1988=)
c.5955G>A (p.Leu1985=)
c.5937G>A (p.Leu1979=)
c.5931G>A (p.Leu1977=)
c.5904G>A (p.Leu1968=)
c.5898G>A (p.Leu1966=)
c.5880G>A (p.Leu1960=)
c.5874G>A (p.Leu1958=)
c.5871G>A (p.Leu1957=)
c.5847G>A (p.Leu1949=)
 ClinVar gnomAD v4
12g.2686197G>CCA477902504CACNA1C,CACNA1C-AS1c.5787G>C (p.Leu1929=)
c.5817G>C (p.Leu1939=)
c.5892G>C (p.Leu1964=)
c.5925G>C (p.Leu1975=)
c.5754G>C (p.Leu1918=)
c.5802G>C (p.Leu1934=)
c.6051G>C (p.Leu2017=)
c.5679G>C (p.Leu1893=)
c.5712G>C (p.Leu1904=)
c.5703G>C (p.Leu1901=)
c.5877G>C (p.Leu1959=)
n.837G>C
n.2215G>C
n.842G>C
c.5856G>C (p.Leu1952=)
c.5835G>C (p.Leu1945=)
c.5736G>C (p.Leu1912=)
c.5772G>C (p.Leu1924=)
c.5769G>C (p.Leu1923=)
c.5763G>C (p.Leu1921=)
c.5796G>C (p.Leu1932=)
c.5730G>C (p.Leu1910=)
c.5340G>C (p.Leu1780=)
c.5484G>C (p.Leu1828=)
c.5379G>C (p.Leu1793=)
c.1785G>C (p.Leu595=)
c.5415G>C (p.Leu1805=)
c.5961G>C (p.Leu1987=)
n.333+3943C>G
c.5331G>C (p.Leu1777=)
c.4776G>C (p.Leu1592=)
c.2886G>C (p.Leu962=)
c.6030G>C (p.Leu2010=)
c.6534G>C (p.Leu2178=)
c.6429G>C (p.Leu2143=)
c.6216G>C (p.Leu2072=)
c.6159G>C (p.Leu2053=)
c.6075G>C (p.Leu2025=)
c.6060G>C (p.Leu2020=)
c.5964G>C (p.Leu1988=)
c.5955G>C (p.Leu1985=)
c.5937G>C (p.Leu1979=)
c.5931G>C (p.Leu1977=)
c.5904G>C (p.Leu1968=)
c.5898G>C (p.Leu1966=)
c.5880G>C (p.Leu1960=)
c.5874G>C (p.Leu1958=)
c.5871G>C (p.Leu1957=)
c.5847G>C (p.Leu1949=)
12g.2686197G>TCA477902503CACNA1C,CACNA1C-AS1c.5787G>T (p.Leu1929=)
c.5817G>T (p.Leu1939=)
c.5892G>T (p.Leu1964=)
c.5925G>T (p.Leu1975=)
c.5754G>T (p.Leu1918=)
c.5802G>T (p.Leu1934=)
c.6051G>T (p.Leu2017=)
c.5679G>T (p.Leu1893=)
c.5712G>T (p.Leu1904=)
c.5703G>T (p.Leu1901=)
c.5877G>T (p.Leu1959=)
n.837G>T
n.2215G>T
n.842G>T
c.5856G>T (p.Leu1952=)
c.5835G>T (p.Leu1945=)
c.5736G>T (p.Leu1912=)
c.5772G>T (p.Leu1924=)
c.5769G>T (p.Leu1923=)
c.5763G>T (p.Leu1921=)
c.5796G>T (p.Leu1932=)
c.5730G>T (p.Leu1910=)
c.5340G>T (p.Leu1780=)
c.5484G>T (p.Leu1828=)
c.5379G>T (p.Leu1793=)
c.1785G>T (p.Leu595=)
c.5415G>T (p.Leu1805=)
c.5961G>T (p.Leu1987=)
n.333+3943C>A
c.5331G>T (p.Leu1777=)
c.4776G>T (p.Leu1592=)
c.2886G>T (p.Leu962=)
c.6030G>T (p.Leu2010=)
c.6534G>T (p.Leu2178=)
c.6429G>T (p.Leu2143=)
c.6216G>T (p.Leu2072=)
c.6159G>T (p.Leu2053=)
c.6075G>T (p.Leu2025=)
c.6060G>T (p.Leu2020=)
c.5964G>T (p.Leu1988=)
c.5955G>T (p.Leu1985=)
c.5937G>T (p.Leu1979=)
c.5931G>T (p.Leu1977=)
c.5904G>T (p.Leu1968=)
c.5898G>T (p.Leu1966=)
c.5880G>T (p.Leu1960=)
c.5874G>T (p.Leu1958=)
c.5871G>T (p.Leu1957=)
c.5847G>T (p.Leu1949=)
12g.2686198A=CA2012350965CACNA1C,CACNA1C-AS1c.5788A= (p.Lys1930=)
c.5818A= (p.Lys1940=)
c.5893A= (p.Lys1965=)
c.5926A= (p.Lys1976=)
c.5755A= (p.Lys1919=)
c.5803A= (p.Lys1935=)
c.6052A= (p.Lys2018=)
c.5680A= (p.Lys1894=)
c.5713A= (p.Lys1905=)
c.5704A= (p.Lys1902=)
c.5878A= (p.Lys1960=)
n.838A=
n.2216A=
n.843A=
c.5857A= (p.Lys1953=)
c.5836A= (p.Lys1946=)
c.5737A= (p.Lys1913=)
c.5773A= (p.Lys1925=)
c.5770A= (p.Lys1924=)
c.5764A= (p.Lys1922=)
c.5797A= (p.Lys1933=)
c.5731A= (p.Lys1911=)
c.5341A= (p.Lys1781=)
c.5485A= (p.Lys1829=)
c.5380A= (p.Lys1794=)
c.1786A= (p.Lys596=)
c.5416A= (p.Lys1806=)
c.5962A= (p.Lys1988=)
n.333+3942T=
c.5332A= (p.Lys1778=)
c.4777A= (p.Lys1593=)
c.2887A= (p.Lys963=)
c.6031A= (p.Lys2011=)
c.6535A= (p.Lys2179=)
c.6430A= (p.Lys2144=)
c.6217A= (p.Lys2073=)
c.6160A= (p.Lys2054=)
c.6076A= (p.Lys2026=)
c.6061A= (p.Lys2021=)
c.5965A= (p.Lys1989=)
c.5956A= (p.Lys1986=)
c.5938A= (p.Lys1980=)
c.5932A= (p.Lys1978=)
c.5905A= (p.Lys1969=)
c.5899A= (p.Lys1967=)
c.5881A= (p.Lys1961=)
c.5875A= (p.Lys1959=)
c.5872A= (p.Lys1958=)
c.5848A= (p.Lys1950=)
12g.2686198A>CCA383382570CACNA1C,CACNA1C-AS1c.5788A>C (p.Lys1930Gln)
c.5818A>C (p.Lys1940Gln)
c.5893A>C (p.Lys1965Gln)
c.5926A>C (p.Lys1976Gln)
c.5755A>C (p.Lys1919Gln)
c.5803A>C (p.Lys1935Gln)
c.6052A>C (p.Lys2018Gln)
c.5680A>C (p.Lys1894Gln)
c.5713A>C (p.Lys1905Gln)
c.5704A>C (p.Lys1902Gln)
c.5878A>C (p.Lys1960Gln)
n.838A>C
n.2216A>C
n.843A>C
c.5857A>C (p.Lys1953Gln)
c.5836A>C (p.Lys1946Gln)
c.5737A>C (p.Lys1913Gln)
c.5773A>C (p.Lys1925Gln)
c.5770A>C (p.Lys1924Gln)
c.5764A>C (p.Lys1922Gln)
c.5797A>C (p.Lys1933Gln)
c.5731A>C (p.Lys1911Gln)
c.5341A>C (p.Lys1781Gln)
c.5485A>C (p.Lys1829Gln)
c.5380A>C (p.Lys1794Gln)
c.1786A>C (p.Lys596Gln)
c.5416A>C (p.Lys1806Gln)
c.5962A>C (p.Lys1988Gln)
n.333+3942T>G
c.5332A>C (p.Lys1778Gln)
c.4777A>C (p.Lys1593Gln)
c.2887A>C (p.Lys963Gln)
c.6031A>C (p.Lys2011Gln)
c.6535A>C (p.Lys2179Gln)
c.6430A>C (p.Lys2144Gln)
c.6217A>C (p.Lys2073Gln)
c.6160A>C (p.Lys2054Gln)
c.6076A>C (p.Lys2026Gln)
c.6061A>C (p.Lys2021Gln)
c.5965A>C (p.Lys1989Gln)
c.5956A>C (p.Lys1986Gln)
c.5938A>C (p.Lys1980Gln)
c.5932A>C (p.Lys1978Gln)
c.5905A>C (p.Lys1969Gln)
c.5899A>C (p.Lys1967Gln)
c.5881A>C (p.Lys1961Gln)
c.5875A>C (p.Lys1959Gln)
c.5872A>C (p.Lys1958Gln)
c.5848A>C (p.Lys1950Gln)
12g.2686198A>GCA383382572CACNA1C,CACNA1C-AS1c.5788A>G (p.Lys1930Glu)
c.5818A>G (p.Lys1940Glu)
c.5893A>G (p.Lys1965Glu)
c.5926A>G (p.Lys1976Glu)
c.5755A>G (p.Lys1919Glu)
c.5803A>G (p.Lys1935Glu)
c.6052A>G (p.Lys2018Glu)
c.5680A>G (p.Lys1894Glu)
c.5713A>G (p.Lys1905Glu)
c.5704A>G (p.Lys1902Glu)
c.5878A>G (p.Lys1960Glu)
n.838A>G
n.2216A>G
n.843A>G
c.5857A>G (p.Lys1953Glu)
c.5836A>G (p.Lys1946Glu)
c.5737A>G (p.Lys1913Glu)
c.5773A>G (p.Lys1925Glu)
c.5770A>G (p.Lys1924Glu)
c.5764A>G (p.Lys1922Glu)
c.5797A>G (p.Lys1933Glu)
c.5731A>G (p.Lys1911Glu)
c.5341A>G (p.Lys1781Glu)
c.5485A>G (p.Lys1829Glu)
c.5380A>G (p.Lys1794Glu)
c.1786A>G (p.Lys596Glu)
c.5416A>G (p.Lys1806Glu)
c.5962A>G (p.Lys1988Glu)
n.333+3942T>C
c.5332A>G (p.Lys1778Glu)
c.4777A>G (p.Lys1593Glu)
c.2887A>G (p.Lys963Glu)
c.6031A>G (p.Lys2011Glu)
c.6535A>G (p.Lys2179Glu)
c.6430A>G (p.Lys2144Glu)
c.6217A>G (p.Lys2073Glu)
c.6160A>G (p.Lys2054Glu)
c.6076A>G (p.Lys2026Glu)
c.6061A>G (p.Lys2021Glu)
c.5965A>G (p.Lys1989Glu)
c.5956A>G (p.Lys1986Glu)
c.5938A>G (p.Lys1980Glu)
c.5932A>G (p.Lys1978Glu)
c.5905A>G (p.Lys1969Glu)
c.5899A>G (p.Lys1967Glu)
c.5881A>G (p.Lys1961Glu)
c.5875A>G (p.Lys1959Glu)
c.5872A>G (p.Lys1958Glu)
c.5848A>G (p.Lys1950Glu)
12g.2686198A>TCA383382573CACNA1C,CACNA1C-AS1c.5788A>T (p.Lys1930Ter)
c.5818A>T (p.Lys1940Ter)
c.5893A>T (p.Lys1965Ter)
c.5926A>T (p.Lys1976Ter)
c.5755A>T (p.Lys1919Ter)
c.5803A>T (p.Lys1935Ter)
c.6052A>T (p.Lys2018Ter)
c.5680A>T (p.Lys1894Ter)
c.5713A>T (p.Lys1905Ter)
c.5704A>T (p.Lys1902Ter)
c.5878A>T (p.Lys1960Ter)
n.838A>T
n.2216A>T
n.843A>T
c.5857A>T (p.Lys1953Ter)
c.5836A>T (p.Lys1946Ter)
c.5737A>T (p.Lys1913Ter)
c.5773A>T (p.Lys1925Ter)
c.5770A>T (p.Lys1924Ter)
c.5764A>T (p.Lys1922Ter)
c.5797A>T (p.Lys1933Ter)
c.5731A>T (p.Lys1911Ter)
c.5341A>T (p.Lys1781Ter)
c.5485A>T (p.Lys1829Ter)
c.5380A>T (p.Lys1794Ter)
c.1786A>T (p.Lys596Ter)
c.5416A>T (p.Lys1806Ter)
c.5962A>T (p.Lys1988Ter)
n.333+3942T>A
c.5332A>T (p.Lys1778Ter)
c.4777A>T (p.Lys1593Ter)
c.2887A>T (p.Lys963Ter)
c.6031A>T (p.Lys2011Ter)
c.6535A>T (p.Lys2179Ter)
c.6430A>T (p.Lys2144Ter)
c.6217A>T (p.Lys2073Ter)
c.6160A>T (p.Lys2054Ter)
c.6076A>T (p.Lys2026Ter)
c.6061A>T (p.Lys2021Ter)
c.5965A>T (p.Lys1989Ter)
c.5956A>T (p.Lys1986Ter)
c.5938A>T (p.Lys1980Ter)
c.5932A>T (p.Lys1978Ter)
c.5905A>T (p.Lys1969Ter)
c.5899A>T (p.Lys1967Ter)
c.5881A>T (p.Lys1961Ter)
c.5875A>T (p.Lys1959Ter)
c.5872A>T (p.Lys1958Ter)
c.5848A>T (p.Lys1950Ter)
 dbSNP
12g.2686199A=CA2012350966CACNA1C,CACNA1C-AS1c.5789A= (p.Lys1930=)
c.5819A= (p.Lys1940=)
c.5894A= (p.Lys1965=)
c.5927A= (p.Lys1976=)
c.5756A= (p.Lys1919=)
c.5804A= (p.Lys1935=)
c.6053A= (p.Lys2018=)
c.5681A= (p.Lys1894=)
c.5714A= (p.Lys1905=)
c.5705A= (p.Lys1902=)
c.5879A= (p.Lys1960=)
n.839A=
n.2217A=
n.844A=
c.5858A= (p.Lys1953=)
c.5837A= (p.Lys1946=)
c.5738A= (p.Lys1913=)
c.5774A= (p.Lys1925=)
c.5771A= (p.Lys1924=)
c.5765A= (p.Lys1922=)
c.5798A= (p.Lys1933=)
c.5732A= (p.Lys1911=)
c.5342A= (p.Lys1781=)
c.5486A= (p.Lys1829=)
c.5381A= (p.Lys1794=)
c.1787A= (p.Lys596=)
c.5417A= (p.Lys1806=)
c.5963A= (p.Lys1988=)
n.333+3941T=
c.5333A= (p.Lys1778=)
c.4778A= (p.Lys1593=)
c.2888A= (p.Lys963=)
c.6032A= (p.Lys2011=)
c.6536A= (p.Lys2179=)
c.6431A= (p.Lys2144=)
c.6218A= (p.Lys2073=)
c.6161A= (p.Lys2054=)
c.6077A= (p.Lys2026=)
c.6062A= (p.Lys2021=)
c.5966A= (p.Lys1989=)
c.5957A= (p.Lys1986=)
c.5939A= (p.Lys1980=)
c.5933A= (p.Lys1978=)
c.5906A= (p.Lys1969=)
c.5900A= (p.Lys1967=)
c.5882A= (p.Lys1961=)
c.5876A= (p.Lys1959=)
c.5873A= (p.Lys1958=)
c.5849A= (p.Lys1950=)
12g.2686199A>CCA383382576CACNA1C,CACNA1C-AS1c.5789A>C (p.Lys1930Thr)
c.5819A>C (p.Lys1940Thr)
c.5894A>C (p.Lys1965Thr)
c.5927A>C (p.Lys1976Thr)
c.5756A>C (p.Lys1919Thr)
c.5804A>C (p.Lys1935Thr)
c.6053A>C (p.Lys2018Thr)
c.5681A>C (p.Lys1894Thr)
c.5714A>C (p.Lys1905Thr)
c.5705A>C (p.Lys1902Thr)
c.5879A>C (p.Lys1960Thr)
n.839A>C
n.2217A>C
n.844A>C
c.5858A>C (p.Lys1953Thr)
c.5837A>C (p.Lys1946Thr)
c.5738A>C (p.Lys1913Thr)
c.5774A>C (p.Lys1925Thr)
c.5771A>C (p.Lys1924Thr)
c.5765A>C (p.Lys1922Thr)
c.5798A>C (p.Lys1933Thr)
c.5732A>C (p.Lys1911Thr)
c.5342A>C (p.Lys1781Thr)
c.5486A>C (p.Lys1829Thr)
c.5381A>C (p.Lys1794Thr)
c.1787A>C (p.Lys596Thr)
c.5417A>C (p.Lys1806Thr)
c.5963A>C (p.Lys1988Thr)
n.333+3941T>G
c.5333A>C (p.Lys1778Thr)
c.4778A>C (p.Lys1593Thr)
c.2888A>C (p.Lys963Thr)
c.6032A>C (p.Lys2011Thr)
c.6536A>C (p.Lys2179Thr)
c.6431A>C (p.Lys2144Thr)
c.6218A>C (p.Lys2073Thr)
c.6161A>C (p.Lys2054Thr)
c.6077A>C (p.Lys2026Thr)
c.6062A>C (p.Lys2021Thr)
c.5966A>C (p.Lys1989Thr)
c.5957A>C (p.Lys1986Thr)
c.5939A>C (p.Lys1980Thr)
c.5933A>C (p.Lys1978Thr)
c.5906A>C (p.Lys1969Thr)
c.5900A>C (p.Lys1967Thr)
c.5882A>C (p.Lys1961Thr)
c.5876A>C (p.Lys1959Thr)
c.5873A>C (p.Lys1958Thr)
c.5849A>C (p.Lys1950Thr)
 gnomAD v4
12g.2686199A>GCA6389953CACNA1C,CACNA1C-AS1c.5789A>G (p.Lys1930Arg)
c.5819A>G (p.Lys1940Arg)
c.5894A>G (p.Lys1965Arg)
c.5927A>G (p.Lys1976Arg)
c.5756A>G (p.Lys1919Arg)
c.5804A>G (p.Lys1935Arg)
c.6053A>G (p.Lys2018Arg)
c.5681A>G (p.Lys1894Arg)
c.5714A>G (p.Lys1905Arg)
c.5705A>G (p.Lys1902Arg)
c.5879A>G (p.Lys1960Arg)
n.839A>G
n.2217A>G
n.844A>G
c.5858A>G (p.Lys1953Arg)
c.5837A>G (p.Lys1946Arg)
c.5738A>G (p.Lys1913Arg)
c.5774A>G (p.Lys1925Arg)
c.5771A>G (p.Lys1924Arg)
c.5765A>G (p.Lys1922Arg)
c.5798A>G (p.Lys1933Arg)
c.5732A>G (p.Lys1911Arg)
c.5342A>G (p.Lys1781Arg)
c.5486A>G (p.Lys1829Arg)
c.5381A>G (p.Lys1794Arg)
c.1787A>G (p.Lys596Arg)
c.5417A>G (p.Lys1806Arg)
c.5963A>G (p.Lys1988Arg)
n.333+3941T>C
c.5333A>G (p.Lys1778Arg)
c.4778A>G (p.Lys1593Arg)
c.2888A>G (p.Lys963Arg)
c.6032A>G (p.Lys2011Arg)
c.6536A>G (p.Lys2179Arg)
c.6431A>G (p.Lys2144Arg)
c.6218A>G (p.Lys2073Arg)
c.6161A>G (p.Lys2054Arg)
c.6077A>G (p.Lys2026Arg)
c.6062A>G (p.Lys2021Arg)
c.5966A>G (p.Lys1989Arg)
c.5957A>G (p.Lys1986Arg)
c.5939A>G (p.Lys1980Arg)
c.5933A>G (p.Lys1978Arg)
c.5906A>G (p.Lys1969Arg)
c.5900A>G (p.Lys1967Arg)
c.5882A>G (p.Lys1961Arg)
c.5876A>G (p.Lys1959Arg)
c.5873A>G (p.Lys1958Arg)
c.5849A>G (p.Lys1950Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686199A>TCA383382574CACNA1C,CACNA1C-AS1c.5789A>T (p.Lys1930Met)
c.5819A>T (p.Lys1940Met)
c.5894A>T (p.Lys1965Met)
c.5927A>T (p.Lys1976Met)
c.5756A>T (p.Lys1919Met)
c.5804A>T (p.Lys1935Met)
c.6053A>T (p.Lys2018Met)
c.5681A>T (p.Lys1894Met)
c.5714A>T (p.Lys1905Met)
c.5705A>T (p.Lys1902Met)
c.5879A>T (p.Lys1960Met)
n.839A>T
n.2217A>T
n.844A>T
c.5858A>T (p.Lys1953Met)
c.5837A>T (p.Lys1946Met)
c.5738A>T (p.Lys1913Met)
c.5774A>T (p.Lys1925Met)
c.5771A>T (p.Lys1924Met)
c.5765A>T (p.Lys1922Met)
c.5798A>T (p.Lys1933Met)
c.5732A>T (p.Lys1911Met)
c.5342A>T (p.Lys1781Met)
c.5486A>T (p.Lys1829Met)
c.5381A>T (p.Lys1794Met)
c.1787A>T (p.Lys596Met)
c.5417A>T (p.Lys1806Met)
c.5963A>T (p.Lys1988Met)
n.333+3941T>A
c.5333A>T (p.Lys1778Met)
c.4778A>T (p.Lys1593Met)
c.2888A>T (p.Lys963Met)
c.6032A>T (p.Lys2011Met)
c.6536A>T (p.Lys2179Met)
c.6431A>T (p.Lys2144Met)
c.6218A>T (p.Lys2073Met)
c.6161A>T (p.Lys2054Met)
c.6077A>T (p.Lys2026Met)
c.6062A>T (p.Lys2021Met)
c.5966A>T (p.Lys1989Met)
c.5957A>T (p.Lys1986Met)
c.5939A>T (p.Lys1980Met)
c.5933A>T (p.Lys1978Met)
c.5906A>T (p.Lys1969Met)
c.5900A>T (p.Lys1967Met)
c.5882A>T (p.Lys1961Met)
c.5876A>T (p.Lys1959Met)
c.5873A>T (p.Lys1958Met)
c.5849A>T (p.Lys1950Met)
12g.2686200G>ACA477902521CACNA1C,CACNA1C-AS1c.5790G>A (p.Lys1930=)
c.5820G>A (p.Lys1940=)
c.5895G>A (p.Lys1965=)
c.5928G>A (p.Lys1976=)
c.5757G>A (p.Lys1919=)
c.5805G>A (p.Lys1935=)
c.6054G>A (p.Lys2018=)
c.5682G>A (p.Lys1894=)
c.5715G>A (p.Lys1905=)
c.5706G>A (p.Lys1902=)
c.5880G>A (p.Lys1960=)
n.840G>A
n.2218G>A
n.845G>A
c.5859G>A (p.Lys1953=)
c.5838G>A (p.Lys1946=)
c.5739G>A (p.Lys1913=)
c.5775G>A (p.Lys1925=)
c.5772G>A (p.Lys1924=)
c.5766G>A (p.Lys1922=)
c.5799G>A (p.Lys1933=)
c.5733G>A (p.Lys1911=)
c.5343G>A (p.Lys1781=)
c.5487G>A (p.Lys1829=)
c.5382G>A (p.Lys1794=)
c.1788G>A (p.Lys596=)
c.5418G>A (p.Lys1806=)
c.5964G>A (p.Lys1988=)
n.333+3940C>T
c.5334G>A (p.Lys1778=)
c.4779G>A (p.Lys1593=)
c.2889G>A (p.Lys963=)
c.6033G>A (p.Lys2011=)
c.6537G>A (p.Lys2179=)
c.6432G>A (p.Lys2144=)
c.6219G>A (p.Lys2073=)
c.6162G>A (p.Lys2054=)
c.6078G>A (p.Lys2026=)
c.6063G>A (p.Lys2021=)
c.5967G>A (p.Lys1989=)
c.5958G>A (p.Lys1986=)
c.5940G>A (p.Lys1980=)
c.5934G>A (p.Lys1978=)
c.5907G>A (p.Lys1969=)
c.5901G>A (p.Lys1967=)
c.5883G>A (p.Lys1961=)
c.5877G>A (p.Lys1959=)
c.5874G>A (p.Lys1958=)
c.5850G>A (p.Lys1950=)
12g.2686200G>CCA383382578CACNA1C,CACNA1C-AS1c.5790G>C (p.Lys1930Asn)
c.5820G>C (p.Lys1940Asn)
c.5895G>C (p.Lys1965Asn)
c.5928G>C (p.Lys1976Asn)
c.5757G>C (p.Lys1919Asn)
c.5805G>C (p.Lys1935Asn)
c.6054G>C (p.Lys2018Asn)
c.5682G>C (p.Lys1894Asn)
c.5715G>C (p.Lys1905Asn)
c.5706G>C (p.Lys1902Asn)
c.5880G>C (p.Lys1960Asn)
n.840G>C
n.2218G>C
n.845G>C
c.5859G>C (p.Lys1953Asn)
c.5838G>C (p.Lys1946Asn)
c.5739G>C (p.Lys1913Asn)
c.5775G>C (p.Lys1925Asn)
c.5772G>C (p.Lys1924Asn)
c.5766G>C (p.Lys1922Asn)
c.5799G>C (p.Lys1933Asn)
c.5733G>C (p.Lys1911Asn)
c.5343G>C (p.Lys1781Asn)
c.5487G>C (p.Lys1829Asn)
c.5382G>C (p.Lys1794Asn)
c.1788G>C (p.Lys596Asn)
c.5418G>C (p.Lys1806Asn)
c.5964G>C (p.Lys1988Asn)
n.333+3940C>G
c.5334G>C (p.Lys1778Asn)
c.4779G>C (p.Lys1593Asn)
c.2889G>C (p.Lys963Asn)
c.6033G>C (p.Lys2011Asn)
c.6537G>C (p.Lys2179Asn)
c.6432G>C (p.Lys2144Asn)
c.6219G>C (p.Lys2073Asn)
c.6162G>C (p.Lys2054Asn)
c.6078G>C (p.Lys2026Asn)
c.6063G>C (p.Lys2021Asn)
c.5967G>C (p.Lys1989Asn)
c.5958G>C (p.Lys1986Asn)
c.5940G>C (p.Lys1980Asn)
c.5934G>C (p.Lys1978Asn)
c.5907G>C (p.Lys1969Asn)
c.5901G>C (p.Lys1967Asn)
c.5883G>C (p.Lys1961Asn)
c.5877G>C (p.Lys1959Asn)
c.5874G>C (p.Lys1958Asn)
c.5850G>C (p.Lys1950Asn)
12g.2686200G>TCA383382580CACNA1C,CACNA1C-AS1c.5790G>T (p.Lys1930Asn)
c.5820G>T (p.Lys1940Asn)
c.5895G>T (p.Lys1965Asn)
c.5928G>T (p.Lys1976Asn)
c.5757G>T (p.Lys1919Asn)
c.5805G>T (p.Lys1935Asn)
c.6054G>T (p.Lys2018Asn)
c.5682G>T (p.Lys1894Asn)
c.5715G>T (p.Lys1905Asn)
c.5706G>T (p.Lys1902Asn)
c.5880G>T (p.Lys1960Asn)
n.840G>T
n.2218G>T
n.845G>T
c.5859G>T (p.Lys1953Asn)
c.5838G>T (p.Lys1946Asn)
c.5739G>T (p.Lys1913Asn)
c.5775G>T (p.Lys1925Asn)
c.5772G>T (p.Lys1924Asn)
c.5766G>T (p.Lys1922Asn)
c.5799G>T (p.Lys1933Asn)
c.5733G>T (p.Lys1911Asn)
c.5343G>T (p.Lys1781Asn)
c.5487G>T (p.Lys1829Asn)
c.5382G>T (p.Lys1794Asn)
c.1788G>T (p.Lys596Asn)
c.5418G>T (p.Lys1806Asn)
c.5964G>T (p.Lys1988Asn)
n.333+3940C>A
c.5334G>T (p.Lys1778Asn)
c.4779G>T (p.Lys1593Asn)
c.2889G>T (p.Lys963Asn)
c.6033G>T (p.Lys2011Asn)
c.6537G>T (p.Lys2179Asn)
c.6432G>T (p.Lys2144Asn)
c.6219G>T (p.Lys2073Asn)
c.6162G>T (p.Lys2054Asn)
c.6078G>T (p.Lys2026Asn)
c.6063G>T (p.Lys2021Asn)
c.5967G>T (p.Lys1989Asn)
c.5958G>T (p.Lys1986Asn)
c.5940G>T (p.Lys1980Asn)
c.5934G>T (p.Lys1978Asn)
c.5907G>T (p.Lys1969Asn)
c.5901G>T (p.Lys1967Asn)
c.5883G>T (p.Lys1961Asn)
c.5877G>T (p.Lys1959Asn)
c.5874G>T (p.Lys1958Asn)
c.5850G>T (p.Lys1950Asn)
12g.2686201C>ACA477902523CACNA1C,CACNA1C-AS1c.5791C>A (p.Arg1931=)
c.5821C>A (p.Arg1941=)
c.5896C>A (p.Arg1966=)
c.5929C>A (p.Arg1977=)
c.5758C>A (p.Arg1920=)
c.5806C>A (p.Arg1936=)
c.6055C>A (p.Arg2019=)
c.5683C>A (p.Arg1895=)
c.5716C>A (p.Arg1906=)
c.5707C>A (p.Arg1903=)
c.5881C>A (p.Arg1961=)
n.841C>A
n.2219C>A
n.846C>A
c.5860C>A (p.Arg1954=)
c.5839C>A (p.Arg1947=)
c.5740C>A (p.Arg1914=)
c.5776C>A (p.Arg1926=)
c.5773C>A (p.Arg1925=)
c.5767C>A (p.Arg1923=)
c.5800C>A (p.Arg1934=)
c.5734C>A (p.Arg1912=)
c.5344C>A (p.Arg1782=)
c.5488C>A (p.Arg1830=)
c.5383C>A (p.Arg1795=)
c.1789C>A (p.Arg597=)
c.5419C>A (p.Arg1807=)
c.5965C>A (p.Arg1989=)
n.333+3939G>T
c.5335C>A (p.Arg1779=)
c.4780C>A (p.Arg1594=)
c.2890C>A (p.Arg964=)
c.6034C>A (p.Arg2012=)
c.6538C>A (p.Arg2180=)
c.6433C>A (p.Arg2145=)
c.6220C>A (p.Arg2074=)
c.6163C>A (p.Arg2055=)
c.6079C>A (p.Arg2027=)
c.6064C>A (p.Arg2022=)
c.5968C>A (p.Arg1990=)
c.5959C>A (p.Arg1987=)
c.5941C>A (p.Arg1981=)
c.5935C>A (p.Arg1979=)
c.5908C>A (p.Arg1970=)
c.5902C>A (p.Arg1968=)
c.5884C>A (p.Arg1962=)
c.5878C>A (p.Arg1960=)
c.5875C>A (p.Arg1959=)
c.5851C>A (p.Arg1951=)
 ClinVar COSMIC COSMIC COSMIC
12g.2686201C=CA2012350967CACNA1C,CACNA1C-AS1c.5791C= (p.Arg1931=)
c.5821C= (p.Arg1941=)
c.5896C= (p.Arg1966=)
c.5929C= (p.Arg1977=)
c.5758C= (p.Arg1920=)
c.5806C= (p.Arg1936=)
c.6055C= (p.Arg2019=)
c.5683C= (p.Arg1895=)
c.5716C= (p.Arg1906=)
c.5707C= (p.Arg1903=)
c.5881C= (p.Arg1961=)
n.841C=
n.2219C=
n.846C=
c.5860C= (p.Arg1954=)
c.5839C= (p.Arg1947=)
c.5740C= (p.Arg1914=)
c.5776C= (p.Arg1926=)
c.5773C= (p.Arg1925=)
c.5767C= (p.Arg1923=)
c.5800C= (p.Arg1934=)
c.5734C= (p.Arg1912=)
c.5344C= (p.Arg1782=)
c.5488C= (p.Arg1830=)
c.5383C= (p.Arg1795=)
c.1789C= (p.Arg597=)
c.5419C= (p.Arg1807=)
c.5965C= (p.Arg1989=)
n.333+3939G=
c.5335C= (p.Arg1779=)
c.4780C= (p.Arg1594=)
c.2890C= (p.Arg964=)
c.6034C= (p.Arg2012=)
c.6538C= (p.Arg2180=)
c.6433C= (p.Arg2145=)
c.6220C= (p.Arg2074=)
c.6163C= (p.Arg2055=)
c.6079C= (p.Arg2027=)
c.6064C= (p.Arg2022=)
c.5968C= (p.Arg1990=)
c.5959C= (p.Arg1987=)
c.5941C= (p.Arg1981=)
c.5935C= (p.Arg1979=)
c.5908C= (p.Arg1970=)
c.5902C= (p.Arg1968=)
c.5884C= (p.Arg1962=)
c.5878C= (p.Arg1960=)
c.5875C= (p.Arg1959=)
c.5851C= (p.Arg1951=)
12g.2686201C>GCA383382585CACNA1C,CACNA1C-AS1c.5791C>G (p.Arg1931Gly)
c.5821C>G (p.Arg1941Gly)
c.5896C>G (p.Arg1966Gly)
c.5929C>G (p.Arg1977Gly)
c.5758C>G (p.Arg1920Gly)
c.5806C>G (p.Arg1936Gly)
c.6055C>G (p.Arg2019Gly)
c.5683C>G (p.Arg1895Gly)
c.5716C>G (p.Arg1906Gly)
c.5707C>G (p.Arg1903Gly)
c.5881C>G (p.Arg1961Gly)
n.841C>G
n.2219C>G
n.846C>G
c.5860C>G (p.Arg1954Gly)
c.5839C>G (p.Arg1947Gly)
c.5740C>G (p.Arg1914Gly)
c.5776C>G (p.Arg1926Gly)
c.5773C>G (p.Arg1925Gly)
c.5767C>G (p.Arg1923Gly)
c.5800C>G (p.Arg1934Gly)
c.5734C>G (p.Arg1912Gly)
c.5344C>G (p.Arg1782Gly)
c.5488C>G (p.Arg1830Gly)
c.5383C>G (p.Arg1795Gly)
c.1789C>G (p.Arg597Gly)
c.5419C>G (p.Arg1807Gly)
c.5965C>G (p.Arg1989Gly)
n.333+3939G>C
c.5335C>G (p.Arg1779Gly)
c.4780C>G (p.Arg1594Gly)
c.2890C>G (p.Arg964Gly)
c.6034C>G (p.Arg2012Gly)
c.6538C>G (p.Arg2180Gly)
c.6433C>G (p.Arg2145Gly)
c.6220C>G (p.Arg2074Gly)
c.6163C>G (p.Arg2055Gly)
c.6079C>G (p.Arg2027Gly)
c.6064C>G (p.Arg2022Gly)
c.5968C>G (p.Arg1990Gly)
c.5959C>G (p.Arg1987Gly)
c.5941C>G (p.Arg1981Gly)
c.5935C>G (p.Arg1979Gly)
c.5908C>G (p.Arg1970Gly)
c.5902C>G (p.Arg1968Gly)
c.5884C>G (p.Arg1962Gly)
c.5878C>G (p.Arg1960Gly)
c.5875C>G (p.Arg1959Gly)
c.5851C>G (p.Arg1951Gly)
12g.2686201C>TCA231615980CACNA1C,CACNA1C-AS1c.5791C>T (p.Arg1931Ter)
c.5821C>T (p.Arg1941Ter)
c.5896C>T (p.Arg1966Ter)
c.5929C>T (p.Arg1977Ter)
c.5758C>T (p.Arg1920Ter)
c.5806C>T (p.Arg1936Ter)
c.6055C>T (p.Arg2019Ter)
c.5683C>T (p.Arg1895Ter)
c.5716C>T (p.Arg1906Ter)
c.5707C>T (p.Arg1903Ter)
c.5881C>T (p.Arg1961Ter)
n.841C>T
n.2219C>T
n.846C>T
c.5860C>T (p.Arg1954Ter)
c.5839C>T (p.Arg1947Ter)
c.5740C>T (p.Arg1914Ter)
c.5776C>T (p.Arg1926Ter)
c.5773C>T (p.Arg1925Ter)
c.5767C>T (p.Arg1923Ter)
c.5800C>T (p.Arg1934Ter)
c.5734C>T (p.Arg1912Ter)
c.5344C>T (p.Arg1782Ter)
c.5488C>T (p.Arg1830Ter)
c.5383C>T (p.Arg1795Ter)
c.1789C>T (p.Arg597Ter)
c.5419C>T (p.Arg1807Ter)
c.5965C>T (p.Arg1989Ter)
n.333+3939G>A
c.5335C>T (p.Arg1779Ter)
c.4780C>T (p.Arg1594Ter)
c.2890C>T (p.Arg964Ter)
c.6034C>T (p.Arg2012Ter)
c.6538C>T (p.Arg2180Ter)
c.6433C>T (p.Arg2145Ter)
c.6220C>T (p.Arg2074Ter)
c.6163C>T (p.Arg2055Ter)
c.6079C>T (p.Arg2027Ter)
c.6064C>T (p.Arg2022Ter)
c.5968C>T (p.Arg1990Ter)
c.5959C>T (p.Arg1987Ter)
c.5941C>T (p.Arg1981Ter)
c.5935C>T (p.Arg1979Ter)
c.5908C>T (p.Arg1970Ter)
c.5902C>T (p.Arg1968Ter)
c.5884C>T (p.Arg1962Ter)
c.5878C>T (p.Arg1960Ter)
c.5875C>T (p.Arg1959Ter)
c.5851C>T (p.Arg1951Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686202G>ACA6389955CACNA1C,CACNA1C-AS1c.5792G>A (p.Arg1931Gln)
c.5822G>A (p.Arg1941Gln)
c.5897G>A (p.Arg1966Gln)
c.5930G>A (p.Arg1977Gln)
c.5759G>A (p.Arg1920Gln)
c.5807G>A (p.Arg1936Gln)
c.6056G>A (p.Arg2019Gln)
c.5684G>A (p.Arg1895Gln)
c.5717G>A (p.Arg1906Gln)
c.5708G>A (p.Arg1903Gln)
c.5882G>A (p.Arg1961Gln)
n.842G>A
n.2220G>A
n.847G>A
c.5861G>A (p.Arg1954Gln)
c.5840G>A (p.Arg1947Gln)
c.5741G>A (p.Arg1914Gln)
c.5777G>A (p.Arg1926Gln)
c.5774G>A (p.Arg1925Gln)
c.5768G>A (p.Arg1923Gln)
c.5801G>A (p.Arg1934Gln)
c.5735G>A (p.Arg1912Gln)
c.5345G>A (p.Arg1782Gln)
c.5489G>A (p.Arg1830Gln)
c.5384G>A (p.Arg1795Gln)
c.1790G>A (p.Arg597Gln)
c.5420G>A (p.Arg1807Gln)
c.5966G>A (p.Arg1989Gln)
n.333+3938C>T
c.5336G>A (p.Arg1779Gln)
c.4781G>A (p.Arg1594Gln)
c.2891G>A (p.Arg964Gln)
c.6035G>A (p.Arg2012Gln)
c.6539G>A (p.Arg2180Gln)
c.6434G>A (p.Arg2145Gln)
c.6221G>A (p.Arg2074Gln)
c.6164G>A (p.Arg2055Gln)
c.6080G>A (p.Arg2027Gln)
c.6065G>A (p.Arg2022Gln)
c.5969G>A (p.Arg1990Gln)
c.5960G>A (p.Arg1987Gln)
c.5942G>A (p.Arg1981Gln)
c.5936G>A (p.Arg1979Gln)
c.5909G>A (p.Arg1970Gln)
c.5903G>A (p.Arg1968Gln)
c.5885G>A (p.Arg1962Gln)
c.5879G>A (p.Arg1960Gln)
c.5876G>A (p.Arg1959Gln)
c.5852G>A (p.Arg1951Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686202G>CCA383382588CACNA1C,CACNA1C-AS1c.5792G>C (p.Arg1931Pro)
c.5822G>C (p.Arg1941Pro)
c.5897G>C (p.Arg1966Pro)
c.5930G>C (p.Arg1977Pro)
c.5759G>C (p.Arg1920Pro)
c.5807G>C (p.Arg1936Pro)
c.6056G>C (p.Arg2019Pro)
c.5684G>C (p.Arg1895Pro)
c.5717G>C (p.Arg1906Pro)
c.5708G>C (p.Arg1903Pro)
c.5882G>C (p.Arg1961Pro)
n.842G>C
n.2220G>C
n.847G>C
c.5861G>C (p.Arg1954Pro)
c.5840G>C (p.Arg1947Pro)
c.5741G>C (p.Arg1914Pro)
c.5777G>C (p.Arg1926Pro)
c.5774G>C (p.Arg1925Pro)
c.5768G>C (p.Arg1923Pro)
c.5801G>C (p.Arg1934Pro)
c.5735G>C (p.Arg1912Pro)
c.5345G>C (p.Arg1782Pro)
c.5489G>C (p.Arg1830Pro)
c.5384G>C (p.Arg1795Pro)
c.1790G>C (p.Arg597Pro)
c.5420G>C (p.Arg1807Pro)
c.5966G>C (p.Arg1989Pro)
n.333+3938C>G
c.5336G>C (p.Arg1779Pro)
c.4781G>C (p.Arg1594Pro)
c.2891G>C (p.Arg964Pro)
c.6035G>C (p.Arg2012Pro)
c.6539G>C (p.Arg2180Pro)
c.6434G>C (p.Arg2145Pro)
c.6221G>C (p.Arg2074Pro)
c.6164G>C (p.Arg2055Pro)
c.6080G>C (p.Arg2027Pro)
c.6065G>C (p.Arg2022Pro)
c.5969G>C (p.Arg1990Pro)
c.5960G>C (p.Arg1987Pro)
c.5942G>C (p.Arg1981Pro)
c.5936G>C (p.Arg1979Pro)
c.5909G>C (p.Arg1970Pro)
c.5903G>C (p.Arg1968Pro)
c.5885G>C (p.Arg1962Pro)
c.5879G>C (p.Arg1960Pro)
c.5876G>C (p.Arg1959Pro)
c.5852G>C (p.Arg1951Pro)
12g.2686202G=CA2012350968CACNA1C,CACNA1C-AS1c.5792G= (p.Arg1931=)
c.5822G= (p.Arg1941=)
c.5897G= (p.Arg1966=)
c.5930G= (p.Arg1977=)
c.5759G= (p.Arg1920=)
c.5807G= (p.Arg1936=)
c.6056G= (p.Arg2019=)
c.5684G= (p.Arg1895=)
c.5717G= (p.Arg1906=)
c.5708G= (p.Arg1903=)
c.5882G= (p.Arg1961=)
n.842G=
n.2220G=
n.847G=
c.5861G= (p.Arg1954=)
c.5840G= (p.Arg1947=)
c.5741G= (p.Arg1914=)
c.5777G= (p.Arg1926=)
c.5774G= (p.Arg1925=)
c.5768G= (p.Arg1923=)
c.5801G= (p.Arg1934=)
c.5735G= (p.Arg1912=)
c.5345G= (p.Arg1782=)
c.5489G= (p.Arg1830=)
c.5384G= (p.Arg1795=)
c.1790G= (p.Arg597=)
c.5420G= (p.Arg1807=)
c.5966G= (p.Arg1989=)
n.333+3938C=
c.5336G= (p.Arg1779=)
c.4781G= (p.Arg1594=)
c.2891G= (p.Arg964=)
c.6035G= (p.Arg2012=)
c.6539G= (p.Arg2180=)
c.6434G= (p.Arg2145=)
c.6221G= (p.Arg2074=)
c.6164G= (p.Arg2055=)
c.6080G= (p.Arg2027=)
c.6065G= (p.Arg2022=)
c.5969G= (p.Arg1990=)
c.5960G= (p.Arg1987=)
c.5942G= (p.Arg1981=)
c.5936G= (p.Arg1979=)
c.5909G= (p.Arg1970=)
c.5903G= (p.Arg1968=)
c.5885G= (p.Arg1962=)
c.5879G= (p.Arg1960=)
c.5876G= (p.Arg1959=)
c.5852G= (p.Arg1951=)
12g.2686202G>TCA6389954CACNA1C,CACNA1C-AS1c.5792G>T (p.Arg1931Leu)
c.5822G>T (p.Arg1941Leu)
c.5897G>T (p.Arg1966Leu)
c.5930G>T (p.Arg1977Leu)
c.5759G>T (p.Arg1920Leu)
c.5807G>T (p.Arg1936Leu)
c.6056G>T (p.Arg2019Leu)
c.5684G>T (p.Arg1895Leu)
c.5717G>T (p.Arg1906Leu)
c.5708G>T (p.Arg1903Leu)
c.5882G>T (p.Arg1961Leu)
n.842G>T
n.2220G>T
n.847G>T
c.5861G>T (p.Arg1954Leu)
c.5840G>T (p.Arg1947Leu)
c.5741G>T (p.Arg1914Leu)
c.5777G>T (p.Arg1926Leu)
c.5774G>T (p.Arg1925Leu)
c.5768G>T (p.Arg1923Leu)
c.5801G>T (p.Arg1934Leu)
c.5735G>T (p.Arg1912Leu)
c.5345G>T (p.Arg1782Leu)
c.5489G>T (p.Arg1830Leu)
c.5384G>T (p.Arg1795Leu)
c.1790G>T (p.Arg597Leu)
c.5420G>T (p.Arg1807Leu)
c.5966G>T (p.Arg1989Leu)
n.333+3938C>A
c.5336G>T (p.Arg1779Leu)
c.4781G>T (p.Arg1594Leu)
c.2891G>T (p.Arg964Leu)
c.6035G>T (p.Arg2012Leu)
c.6539G>T (p.Arg2180Leu)
c.6434G>T (p.Arg2145Leu)
c.6221G>T (p.Arg2074Leu)
c.6164G>T (p.Arg2055Leu)
c.6080G>T (p.Arg2027Leu)
c.6065G>T (p.Arg2022Leu)
c.5969G>T (p.Arg1990Leu)
c.5960G>T (p.Arg1987Leu)
c.5942G>T (p.Arg1981Leu)
c.5936G>T (p.Arg1979Leu)
c.5909G>T (p.Arg1970Leu)
c.5903G>T (p.Arg1968Leu)
c.5885G>T (p.Arg1962Leu)
c.5879G>T (p.Arg1960Leu)
c.5876G>T (p.Arg1959Leu)
c.5852G>T (p.Arg1951Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686203A>CCA477902525CACNA1C,CACNA1C-AS1c.5793A>C (p.Arg1931=)
c.5823A>C (p.Arg1941=)
c.5898A>C (p.Arg1966=)
c.5931A>C (p.Arg1977=)
c.5760A>C (p.Arg1920=)
c.5808A>C (p.Arg1936=)
c.6057A>C (p.Arg2019=)
c.5685A>C (p.Arg1895=)
c.5718A>C (p.Arg1906=)
c.5709A>C (p.Arg1903=)
c.5883A>C (p.Arg1961=)
n.843A>C
n.2221A>C
n.848A>C
c.5862A>C (p.Arg1954=)
c.5841A>C (p.Arg1947=)
c.5742A>C (p.Arg1914=)
c.5778A>C (p.Arg1926=)
c.5775A>C (p.Arg1925=)
c.5769A>C (p.Arg1923=)
c.5802A>C (p.Arg1934=)
c.5736A>C (p.Arg1912=)
c.5346A>C (p.Arg1782=)
c.5490A>C (p.Arg1830=)
c.5385A>C (p.Arg1795=)
c.1791A>C (p.Arg597=)
c.5421A>C (p.Arg1807=)
c.5967A>C (p.Arg1989=)
n.333+3937T>G
c.5337A>C (p.Arg1779=)
c.4782A>C (p.Arg1594=)
c.2892A>C (p.Arg964=)
c.6036A>C (p.Arg2012=)
c.6540A>C (p.Arg2180=)
c.6435A>C (p.Arg2145=)
c.6222A>C (p.Arg2074=)
c.6165A>C (p.Arg2055=)
c.6081A>C (p.Arg2027=)
c.6066A>C (p.Arg2022=)
c.5970A>C (p.Arg1990=)
c.5961A>C (p.Arg1987=)
c.5943A>C (p.Arg1981=)
c.5937A>C (p.Arg1979=)
c.5910A>C (p.Arg1970=)
c.5904A>C (p.Arg1968=)
c.5886A>C (p.Arg1962=)
c.5880A>C (p.Arg1960=)
c.5877A>C (p.Arg1959=)
c.5853A>C (p.Arg1951=)
12g.2686203A>GCA477902527CACNA1C,CACNA1C-AS1c.5793A>G (p.Arg1931=)
c.5823A>G (p.Arg1941=)
c.5898A>G (p.Arg1966=)
c.5931A>G (p.Arg1977=)
c.5760A>G (p.Arg1920=)
c.5808A>G (p.Arg1936=)
c.6057A>G (p.Arg2019=)
c.5685A>G (p.Arg1895=)
c.5718A>G (p.Arg1906=)
c.5709A>G (p.Arg1903=)
c.5883A>G (p.Arg1961=)
n.843A>G
n.2221A>G
n.848A>G
c.5862A>G (p.Arg1954=)
c.5841A>G (p.Arg1947=)
c.5742A>G (p.Arg1914=)
c.5778A>G (p.Arg1926=)
c.5775A>G (p.Arg1925=)
c.5769A>G (p.Arg1923=)
c.5802A>G (p.Arg1934=)
c.5736A>G (p.Arg1912=)
c.5346A>G (p.Arg1782=)
c.5490A>G (p.Arg1830=)
c.5385A>G (p.Arg1795=)
c.1791A>G (p.Arg597=)
c.5421A>G (p.Arg1807=)
c.5967A>G (p.Arg1989=)
n.333+3937T>C
c.5337A>G (p.Arg1779=)
c.4782A>G (p.Arg1594=)
c.2892A>G (p.Arg964=)
c.6036A>G (p.Arg2012=)
c.6540A>G (p.Arg2180=)
c.6435A>G (p.Arg2145=)
c.6222A>G (p.Arg2074=)
c.6165A>G (p.Arg2055=)
c.6081A>G (p.Arg2027=)
c.6066A>G (p.Arg2022=)
c.5970A>G (p.Arg1990=)
c.5961A>G (p.Arg1987=)
c.5943A>G (p.Arg1981=)
c.5937A>G (p.Arg1979=)
c.5910A>G (p.Arg1970=)
c.5904A>G (p.Arg1968=)
c.5886A>G (p.Arg1962=)
c.5880A>G (p.Arg1960=)
c.5877A>G (p.Arg1959=)
c.5853A>G (p.Arg1951=)
12g.2686203A>TCA477902529CACNA1C,CACNA1C-AS1c.5793A>T (p.Arg1931=)
c.5823A>T (p.Arg1941=)
c.5898A>T (p.Arg1966=)
c.5931A>T (p.Arg1977=)
c.5760A>T (p.Arg1920=)
c.5808A>T (p.Arg1936=)
c.6057A>T (p.Arg2019=)
c.5685A>T (p.Arg1895=)
c.5718A>T (p.Arg1906=)
c.5709A>T (p.Arg1903=)
c.5883A>T (p.Arg1961=)
n.843A>T
n.2221A>T
n.848A>T
c.5862A>T (p.Arg1954=)
c.5841A>T (p.Arg1947=)
c.5742A>T (p.Arg1914=)
c.5778A>T (p.Arg1926=)
c.5775A>T (p.Arg1925=)
c.5769A>T (p.Arg1923=)
c.5802A>T (p.Arg1934=)
c.5736A>T (p.Arg1912=)
c.5346A>T (p.Arg1782=)
c.5490A>T (p.Arg1830=)
c.5385A>T (p.Arg1795=)
c.1791A>T (p.Arg597=)
c.5421A>T (p.Arg1807=)
c.5967A>T (p.Arg1989=)
n.333+3937T>A
c.5337A>T (p.Arg1779=)
c.4782A>T (p.Arg1594=)
c.2892A>T (p.Arg964=)
c.6036A>T (p.Arg2012=)
c.6540A>T (p.Arg2180=)
c.6435A>T (p.Arg2145=)
c.6222A>T (p.Arg2074=)
c.6165A>T (p.Arg2055=)
c.6081A>T (p.Arg2027=)
c.6066A>T (p.Arg2022=)
c.5970A>T (p.Arg1990=)
c.5961A>T (p.Arg1987=)
c.5943A>T (p.Arg1981=)
c.5937A>T (p.Arg1979=)
c.5910A>T (p.Arg1970=)
c.5904A>T (p.Arg1968=)
c.5886A>T (p.Arg1962=)
c.5880A>T (p.Arg1960=)
c.5877A>T (p.Arg1959=)
c.5853A>T (p.Arg1951=)
12g.2686204C>ACA383382592CACNA1C,CACNA1C-AS1c.5794C>A (p.Gln1932Lys)
c.5824C>A (p.Gln1942Lys)
c.5899C>A (p.Gln1967Lys)
c.5932C>A (p.Gln1978Lys)
c.5761C>A (p.Gln1921Lys)
c.5809C>A (p.Gln1937Lys)
c.6058C>A (p.Gln2020Lys)
c.5686C>A (p.Gln1896Lys)
c.5719C>A (p.Gln1907Lys)
c.5710C>A (p.Gln1904Lys)
c.5884C>A (p.Gln1962Lys)
n.844C>A
n.2222C>A
n.849C>A
c.5863C>A (p.Gln1955Lys)
c.5842C>A (p.Gln1948Lys)
c.5743C>A (p.Gln1915Lys)
c.5779C>A (p.Gln1927Lys)
c.5776C>A (p.Gln1926Lys)
c.5770C>A (p.Gln1924Lys)
c.5803C>A (p.Gln1935Lys)
c.5737C>A (p.Gln1913Lys)
c.5347C>A (p.Gln1783Lys)
c.5491C>A (p.Gln1831Lys)
c.5386C>A (p.Gln1796Lys)
c.1792C>A (p.Gln598Lys)
c.5422C>A (p.Gln1808Lys)
c.5968C>A (p.Gln1990Lys)
n.333+3936G>T
c.5338C>A (p.Gln1780Lys)
c.4783C>A (p.Gln1595Lys)
c.2893C>A (p.Gln965Lys)
c.6037C>A (p.Gln2013Lys)
c.6541C>A (p.Gln2181Lys)
c.6436C>A (p.Gln2146Lys)
c.6223C>A (p.Gln2075Lys)
c.6166C>A (p.Gln2056Lys)
c.6082C>A (p.Gln2028Lys)
c.6067C>A (p.Gln2023Lys)
c.5971C>A (p.Gln1991Lys)
c.5962C>A (p.Gln1988Lys)
c.5944C>A (p.Gln1982Lys)
c.5938C>A (p.Gln1980Lys)
c.5911C>A (p.Gln1971Lys)
c.5905C>A (p.Gln1969Lys)
c.5887C>A (p.Gln1963Lys)
c.5881C>A (p.Gln1961Lys)
c.5878C>A (p.Gln1960Lys)
c.5854C>A (p.Gln1952Lys)
12g.2686204C>GCA383382594CACNA1C,CACNA1C-AS1c.5794C>G (p.Gln1932Glu)
c.5824C>G (p.Gln1942Glu)
c.5899C>G (p.Gln1967Glu)
c.5932C>G (p.Gln1978Glu)
c.5761C>G (p.Gln1921Glu)
c.5809C>G (p.Gln1937Glu)
c.6058C>G (p.Gln2020Glu)
c.5686C>G (p.Gln1896Glu)
c.5719C>G (p.Gln1907Glu)
c.5710C>G (p.Gln1904Glu)
c.5884C>G (p.Gln1962Glu)
n.844C>G
n.2222C>G
n.849C>G
c.5863C>G (p.Gln1955Glu)
c.5842C>G (p.Gln1948Glu)
c.5743C>G (p.Gln1915Glu)
c.5779C>G (p.Gln1927Glu)
c.5776C>G (p.Gln1926Glu)
c.5770C>G (p.Gln1924Glu)
c.5803C>G (p.Gln1935Glu)
c.5737C>G (p.Gln1913Glu)
c.5347C>G (p.Gln1783Glu)
c.5491C>G (p.Gln1831Glu)
c.5386C>G (p.Gln1796Glu)
c.1792C>G (p.Gln598Glu)
c.5422C>G (p.Gln1808Glu)
c.5968C>G (p.Gln1990Glu)
n.333+3936G>C
c.5338C>G (p.Gln1780Glu)
c.4783C>G (p.Gln1595Glu)
c.2893C>G (p.Gln965Glu)
c.6037C>G (p.Gln2013Glu)
c.6541C>G (p.Gln2181Glu)
c.6436C>G (p.Gln2146Glu)
c.6223C>G (p.Gln2075Glu)
c.6166C>G (p.Gln2056Glu)
c.6082C>G (p.Gln2028Glu)
c.6067C>G (p.Gln2023Glu)
c.5971C>G (p.Gln1991Glu)
c.5962C>G (p.Gln1988Glu)
c.5944C>G (p.Gln1982Glu)
c.5938C>G (p.Gln1980Glu)
c.5911C>G (p.Gln1971Glu)
c.5905C>G (p.Gln1969Glu)
c.5887C>G (p.Gln1963Glu)
c.5881C>G (p.Gln1961Glu)
c.5878C>G (p.Gln1960Glu)
c.5854C>G (p.Gln1952Glu)
12g.2686204C>TCA383382595CACNA1C,CACNA1C-AS1c.5794C>T (p.Gln1932Ter)
c.5824C>T (p.Gln1942Ter)
c.5899C>T (p.Gln1967Ter)
c.5932C>T (p.Gln1978Ter)
c.5761C>T (p.Gln1921Ter)
c.5809C>T (p.Gln1937Ter)
c.6058C>T (p.Gln2020Ter)
c.5686C>T (p.Gln1896Ter)
c.5719C>T (p.Gln1907Ter)
c.5710C>T (p.Gln1904Ter)
c.5884C>T (p.Gln1962Ter)
n.844C>T
n.2222C>T
n.849C>T
c.5863C>T (p.Gln1955Ter)
c.5842C>T (p.Gln1948Ter)
c.5743C>T (p.Gln1915Ter)
c.5779C>T (p.Gln1927Ter)
c.5776C>T (p.Gln1926Ter)
c.5770C>T (p.Gln1924Ter)
c.5803C>T (p.Gln1935Ter)
c.5737C>T (p.Gln1913Ter)
c.5347C>T (p.Gln1783Ter)
c.5491C>T (p.Gln1831Ter)
c.5386C>T (p.Gln1796Ter)
c.1792C>T (p.Gln598Ter)
c.5422C>T (p.Gln1808Ter)
c.5968C>T (p.Gln1990Ter)
n.333+3936G>A
c.5338C>T (p.Gln1780Ter)
c.4783C>T (p.Gln1595Ter)
c.2893C>T (p.Gln965Ter)
c.6037C>T (p.Gln2013Ter)
c.6541C>T (p.Gln2181Ter)
c.6436C>T (p.Gln2146Ter)
c.6223C>T (p.Gln2075Ter)
c.6166C>T (p.Gln2056Ter)
c.6082C>T (p.Gln2028Ter)
c.6067C>T (p.Gln2023Ter)
c.5971C>T (p.Gln1991Ter)
c.5962C>T (p.Gln1988Ter)
c.5944C>T (p.Gln1982Ter)
c.5938C>T (p.Gln1980Ter)
c.5911C>T (p.Gln1971Ter)
c.5905C>T (p.Gln1969Ter)
c.5887C>T (p.Gln1963Ter)
c.5881C>T (p.Gln1961Ter)
c.5878C>T (p.Gln1960Ter)
c.5854C>T (p.Gln1952Ter)
12g.2686205A>CCA383382597CACNA1C,CACNA1C-AS1c.5795A>C (p.Gln1932Pro)
c.5825A>C (p.Gln1942Pro)
c.5900A>C (p.Gln1967Pro)
c.5933A>C (p.Gln1978Pro)
c.5762A>C (p.Gln1921Pro)
c.5810A>C (p.Gln1937Pro)
c.6059A>C (p.Gln2020Pro)
c.5687A>C (p.Gln1896Pro)
c.5720A>C (p.Gln1907Pro)
c.5711A>C (p.Gln1904Pro)
c.5885A>C (p.Gln1962Pro)
n.845A>C
n.2223A>C
n.850A>C
c.5864A>C (p.Gln1955Pro)
c.5843A>C (p.Gln1948Pro)
c.5744A>C (p.Gln1915Pro)
c.5780A>C (p.Gln1927Pro)
c.5777A>C (p.Gln1926Pro)
c.5771A>C (p.Gln1924Pro)
c.5804A>C (p.Gln1935Pro)
c.5738A>C (p.Gln1913Pro)
c.5348A>C (p.Gln1783Pro)
c.5492A>C (p.Gln1831Pro)
c.5387A>C (p.Gln1796Pro)
c.1793A>C (p.Gln598Pro)
c.5423A>C (p.Gln1808Pro)
c.5969A>C (p.Gln1990Pro)
n.333+3935T>G
c.5339A>C (p.Gln1780Pro)
c.4784A>C (p.Gln1595Pro)
c.2894A>C (p.Gln965Pro)
c.6038A>C (p.Gln2013Pro)
c.6542A>C (p.Gln2181Pro)
c.6437A>C (p.Gln2146Pro)
c.6224A>C (p.Gln2075Pro)
c.6167A>C (p.Gln2056Pro)
c.6083A>C (p.Gln2028Pro)
c.6068A>C (p.Gln2023Pro)
c.5972A>C (p.Gln1991Pro)
c.5963A>C (p.Gln1988Pro)
c.5945A>C (p.Gln1982Pro)
c.5939A>C (p.Gln1980Pro)
c.5912A>C (p.Gln1971Pro)
c.5906A>C (p.Gln1969Pro)
c.5888A>C (p.Gln1963Pro)
c.5882A>C (p.Gln1961Pro)
c.5879A>C (p.Gln1960Pro)
c.5855A>C (p.Gln1952Pro)
12g.2686205A>GCA383382599CACNA1C,CACNA1C-AS1c.5795A>G (p.Gln1932Arg)
c.5825A>G (p.Gln1942Arg)
c.5900A>G (p.Gln1967Arg)
c.5933A>G (p.Gln1978Arg)
c.5762A>G (p.Gln1921Arg)
c.5810A>G (p.Gln1937Arg)
c.6059A>G (p.Gln2020Arg)
c.5687A>G (p.Gln1896Arg)
c.5720A>G (p.Gln1907Arg)
c.5711A>G (p.Gln1904Arg)
c.5885A>G (p.Gln1962Arg)
n.845A>G
n.2223A>G
n.850A>G
c.5864A>G (p.Gln1955Arg)
c.5843A>G (p.Gln1948Arg)
c.5744A>G (p.Gln1915Arg)
c.5780A>G (p.Gln1927Arg)
c.5777A>G (p.Gln1926Arg)
c.5771A>G (p.Gln1924Arg)
c.5804A>G (p.Gln1935Arg)
c.5738A>G (p.Gln1913Arg)
c.5348A>G (p.Gln1783Arg)
c.5492A>G (p.Gln1831Arg)
c.5387A>G (p.Gln1796Arg)
c.1793A>G (p.Gln598Arg)
c.5423A>G (p.Gln1808Arg)
c.5969A>G (p.Gln1990Arg)
n.333+3935T>C
c.5339A>G (p.Gln1780Arg)
c.4784A>G (p.Gln1595Arg)
c.2894A>G (p.Gln965Arg)
c.6038A>G (p.Gln2013Arg)
c.6542A>G (p.Gln2181Arg)
c.6437A>G (p.Gln2146Arg)
c.6224A>G (p.Gln2075Arg)
c.6167A>G (p.Gln2056Arg)
c.6083A>G (p.Gln2028Arg)
c.6068A>G (p.Gln2023Arg)
c.5972A>G (p.Gln1991Arg)
c.5963A>G (p.Gln1988Arg)
c.5945A>G (p.Gln1982Arg)
c.5939A>G (p.Gln1980Arg)
c.5912A>G (p.Gln1971Arg)
c.5906A>G (p.Gln1969Arg)
c.5888A>G (p.Gln1963Arg)
c.5882A>G (p.Gln1961Arg)
c.5879A>G (p.Gln1960Arg)
c.5855A>G (p.Gln1952Arg)
12g.2686205A>TCA383382601CACNA1C,CACNA1C-AS1c.5795A>T (p.Gln1932Leu)
c.5825A>T (p.Gln1942Leu)
c.5900A>T (p.Gln1967Leu)
c.5933A>T (p.Gln1978Leu)
c.5762A>T (p.Gln1921Leu)
c.5810A>T (p.Gln1937Leu)
c.6059A>T (p.Gln2020Leu)
c.5687A>T (p.Gln1896Leu)
c.5720A>T (p.Gln1907Leu)
c.5711A>T (p.Gln1904Leu)
c.5885A>T (p.Gln1962Leu)
n.845A>T
n.2223A>T
n.850A>T
c.5864A>T (p.Gln1955Leu)
c.5843A>T (p.Gln1948Leu)
c.5744A>T (p.Gln1915Leu)
c.5780A>T (p.Gln1927Leu)
c.5777A>T (p.Gln1926Leu)
c.5771A>T (p.Gln1924Leu)
c.5804A>T (p.Gln1935Leu)
c.5738A>T (p.Gln1913Leu)
c.5348A>T (p.Gln1783Leu)
c.5492A>T (p.Gln1831Leu)
c.5387A>T (p.Gln1796Leu)
c.1793A>T (p.Gln598Leu)
c.5423A>T (p.Gln1808Leu)
c.5969A>T (p.Gln1990Leu)
n.333+3935T>A
c.5339A>T (p.Gln1780Leu)
c.4784A>T (p.Gln1595Leu)
c.2894A>T (p.Gln965Leu)
c.6038A>T (p.Gln2013Leu)
c.6542A>T (p.Gln2181Leu)
c.6437A>T (p.Gln2146Leu)
c.6224A>T (p.Gln2075Leu)
c.6167A>T (p.Gln2056Leu)
c.6083A>T (p.Gln2028Leu)
c.6068A>T (p.Gln2023Leu)
c.5972A>T (p.Gln1991Leu)
c.5963A>T (p.Gln1988Leu)
c.5945A>T (p.Gln1982Leu)
c.5939A>T (p.Gln1980Leu)
c.5912A>T (p.Gln1971Leu)
c.5906A>T (p.Gln1969Leu)
c.5888A>T (p.Gln1963Leu)
c.5882A>T (p.Gln1961Leu)
c.5879A>T (p.Gln1960Leu)
c.5855A>T (p.Gln1952Leu)
12g.2686206G>ACA477902542CACNA1C,CACNA1C-AS1c.5796G>A (p.Gln1932=)
c.5826G>A (p.Gln1942=)
c.5901G>A (p.Gln1967=)
c.5934G>A (p.Gln1978=)
c.5763G>A (p.Gln1921=)
c.5811G>A (p.Gln1937=)
c.6060G>A (p.Gln2020=)
c.5688G>A (p.Gln1896=)
c.5721G>A (p.Gln1907=)
c.5712G>A (p.Gln1904=)
c.5886G>A (p.Gln1962=)
n.846G>A
n.2224G>A
n.851G>A
c.5865G>A (p.Gln1955=)
c.5844G>A (p.Gln1948=)
c.5745G>A (p.Gln1915=)
c.5781G>A (p.Gln1927=)
c.5778G>A (p.Gln1926=)
c.5772G>A (p.Gln1924=)
c.5805G>A (p.Gln1935=)
c.5739G>A (p.Gln1913=)
c.5349G>A (p.Gln1783=)
c.5493G>A (p.Gln1831=)
c.5388G>A (p.Gln1796=)
c.1794G>A (p.Gln598=)
c.5424G>A (p.Gln1808=)
c.5970G>A (p.Gln1990=)
n.333+3934C>T
c.5340G>A (p.Gln1780=)
c.4785G>A (p.Gln1595=)
c.2895G>A (p.Gln965=)
c.6039G>A (p.Gln2013=)
c.6543G>A (p.Gln2181=)
c.6438G>A (p.Gln2146=)
c.6225G>A (p.Gln2075=)
c.6168G>A (p.Gln2056=)
c.6084G>A (p.Gln2028=)
c.6069G>A (p.Gln2023=)
c.5973G>A (p.Gln1991=)
c.5964G>A (p.Gln1988=)
c.5946G>A (p.Gln1982=)
c.5940G>A (p.Gln1980=)
c.5913G>A (p.Gln1971=)
c.5907G>A (p.Gln1969=)
c.5889G>A (p.Gln1963=)
c.5883G>A (p.Gln1961=)
c.5880G>A (p.Gln1960=)
c.5856G>A (p.Gln1952=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686206G>CCA383382604CACNA1C,CACNA1C-AS1c.5796G>C (p.Gln1932His)
c.5826G>C (p.Gln1942His)
c.5901G>C (p.Gln1967His)
c.5934G>C (p.Gln1978His)
c.5763G>C (p.Gln1921His)
c.5811G>C (p.Gln1937His)
c.6060G>C (p.Gln2020His)
c.5688G>C (p.Gln1896His)
c.5721G>C (p.Gln1907His)
c.5712G>C (p.Gln1904His)
c.5886G>C (p.Gln1962His)
n.846G>C
n.2224G>C
n.851G>C
c.5865G>C (p.Gln1955His)
c.5844G>C (p.Gln1948His)
c.5745G>C (p.Gln1915His)
c.5781G>C (p.Gln1927His)
c.5778G>C (p.Gln1926His)
c.5772G>C (p.Gln1924His)
c.5805G>C (p.Gln1935His)
c.5739G>C (p.Gln1913His)
c.5349G>C (p.Gln1783His)
c.5493G>C (p.Gln1831His)
c.5388G>C (p.Gln1796His)
c.1794G>C (p.Gln598His)
c.5424G>C (p.Gln1808His)
c.5970G>C (p.Gln1990His)
n.333+3934C>G
c.5340G>C (p.Gln1780His)
c.4785G>C (p.Gln1595His)
c.2895G>C (p.Gln965His)
c.6039G>C (p.Gln2013His)
c.6543G>C (p.Gln2181His)
c.6438G>C (p.Gln2146His)
c.6225G>C (p.Gln2075His)
c.6168G>C (p.Gln2056His)
c.6084G>C (p.Gln2028His)
c.6069G>C (p.Gln2023His)
c.5973G>C (p.Gln1991His)
c.5964G>C (p.Gln1988His)
c.5946G>C (p.Gln1982His)
c.5940G>C (p.Gln1980His)
c.5913G>C (p.Gln1971His)
c.5907G>C (p.Gln1969His)
c.5889G>C (p.Gln1963His)
c.5883G>C (p.Gln1961His)
c.5880G>C (p.Gln1960His)
c.5856G>C (p.Gln1952His)
12g.2686206G>TCA383382603CACNA1C,CACNA1C-AS1c.5796G>T (p.Gln1932His)
c.5826G>T (p.Gln1942His)
c.5901G>T (p.Gln1967His)
c.5934G>T (p.Gln1978His)
c.5763G>T (p.Gln1921His)
c.5811G>T (p.Gln1937His)
c.6060G>T (p.Gln2020His)
c.5688G>T (p.Gln1896His)
c.5721G>T (p.Gln1907His)
c.5712G>T (p.Gln1904His)
c.5886G>T (p.Gln1962His)
n.846G>T
n.2224G>T
n.851G>T
c.5865G>T (p.Gln1955His)
c.5844G>T (p.Gln1948His)
c.5745G>T (p.Gln1915His)
c.5781G>T (p.Gln1927His)
c.5778G>T (p.Gln1926His)
c.5772G>T (p.Gln1924His)
c.5805G>T (p.Gln1935His)
c.5739G>T (p.Gln1913His)
c.5349G>T (p.Gln1783His)
c.5493G>T (p.Gln1831His)
c.5388G>T (p.Gln1796His)
c.1794G>T (p.Gln598His)
c.5424G>T (p.Gln1808His)
c.5970G>T (p.Gln1990His)
n.333+3934C>A
c.5340G>T (p.Gln1780His)
c.4785G>T (p.Gln1595His)
c.2895G>T (p.Gln965His)
c.6039G>T (p.Gln2013His)
c.6543G>T (p.Gln2181His)
c.6438G>T (p.Gln2146His)
c.6225G>T (p.Gln2075His)
c.6168G>T (p.Gln2056His)
c.6084G>T (p.Gln2028His)
c.6069G>T (p.Gln2023His)
c.5973G>T (p.Gln1991His)
c.5964G>T (p.Gln1988His)
c.5946G>T (p.Gln1982His)
c.5940G>T (p.Gln1980His)
c.5913G>T (p.Gln1971His)
c.5907G>T (p.Gln1969His)
c.5889G>T (p.Gln1963His)
c.5883G>T (p.Gln1961His)
c.5880G>T (p.Gln1960His)
c.5856G>T (p.Gln1952His)
12g.2686207A=CA2012350969CACNA1C,CACNA1C-AS1c.5797A= (p.Lys1933=)
c.5827A= (p.Lys1943=)
c.5902A= (p.Lys1968=)
c.5935A= (p.Lys1979=)
c.5764A= (p.Lys1922=)
c.5812A= (p.Lys1938=)
c.6061A= (p.Lys2021=)
c.5689A= (p.Lys1897=)
c.5722A= (p.Lys1908=)
c.5713A= (p.Lys1905=)
c.5887A= (p.Lys1963=)
n.847A=
n.2225A=
n.852A=
c.5866A= (p.Lys1956=)
c.5845A= (p.Lys1949=)
c.5746A= (p.Lys1916=)
c.5782A= (p.Lys1928=)
c.5779A= (p.Lys1927=)
c.5773A= (p.Lys1925=)
c.5806A= (p.Lys1936=)
c.5740A= (p.Lys1914=)
c.5350A= (p.Lys1784=)
c.5494A= (p.Lys1832=)
c.5389A= (p.Lys1797=)
c.1795A= (p.Lys599=)
c.5425A= (p.Lys1809=)
c.5971A= (p.Lys1991=)
n.333+3933T=
c.5341A= (p.Lys1781=)
c.4786A= (p.Lys1596=)
c.2896A= (p.Lys966=)
c.6040A= (p.Lys2014=)
c.6544A= (p.Lys2182=)
c.6439A= (p.Lys2147=)
c.6226A= (p.Lys2076=)
c.6169A= (p.Lys2057=)
c.6085A= (p.Lys2029=)
c.6070A= (p.Lys2024=)
c.5974A= (p.Lys1992=)
c.5965A= (p.Lys1989=)
c.5947A= (p.Lys1983=)
c.5941A= (p.Lys1981=)
c.5914A= (p.Lys1972=)
c.5908A= (p.Lys1970=)
c.5890A= (p.Lys1964=)
c.5884A= (p.Lys1962=)
c.5881A= (p.Lys1961=)
c.5857A= (p.Lys1953=)
12g.2686207A>CCA383382608CACNA1C,CACNA1C-AS1c.5797A>C (p.Lys1933Gln)
c.5827A>C (p.Lys1943Gln)
c.5902A>C (p.Lys1968Gln)
c.5935A>C (p.Lys1979Gln)
c.5764A>C (p.Lys1922Gln)
c.5812A>C (p.Lys1938Gln)
c.6061A>C (p.Lys2021Gln)
c.5689A>C (p.Lys1897Gln)
c.5722A>C (p.Lys1908Gln)
c.5713A>C (p.Lys1905Gln)
c.5887A>C (p.Lys1963Gln)
n.847A>C
n.2225A>C
n.852A>C
c.5866A>C (p.Lys1956Gln)
c.5845A>C (p.Lys1949Gln)
c.5746A>C (p.Lys1916Gln)
c.5782A>C (p.Lys1928Gln)
c.5779A>C (p.Lys1927Gln)
c.5773A>C (p.Lys1925Gln)
c.5806A>C (p.Lys1936Gln)
c.5740A>C (p.Lys1914Gln)
c.5350A>C (p.Lys1784Gln)
c.5494A>C (p.Lys1832Gln)
c.5389A>C (p.Lys1797Gln)
c.1795A>C (p.Lys599Gln)
c.5425A>C (p.Lys1809Gln)
c.5971A>C (p.Lys1991Gln)
n.333+3933T>G
c.5341A>C (p.Lys1781Gln)
c.4786A>C (p.Lys1596Gln)
c.2896A>C (p.Lys966Gln)
c.6040A>C (p.Lys2014Gln)
c.6544A>C (p.Lys2182Gln)
c.6439A>C (p.Lys2147Gln)
c.6226A>C (p.Lys2076Gln)
c.6169A>C (p.Lys2057Gln)
c.6085A>C (p.Lys2029Gln)
c.6070A>C (p.Lys2024Gln)
c.5974A>C (p.Lys1992Gln)
c.5965A>C (p.Lys1989Gln)
c.5947A>C (p.Lys1983Gln)
c.5941A>C (p.Lys1981Gln)
c.5914A>C (p.Lys1972Gln)
c.5908A>C (p.Lys1970Gln)
c.5890A>C (p.Lys1964Gln)
c.5884A>C (p.Lys1962Gln)
c.5881A>C (p.Lys1961Gln)
c.5857A>C (p.Lys1953Gln)
12g.2686207A>GCA383382609CACNA1C,CACNA1C-AS1c.5797A>G (p.Lys1933Glu)
c.5827A>G (p.Lys1943Glu)
c.5902A>G (p.Lys1968Glu)
c.5935A>G (p.Lys1979Glu)
c.5764A>G (p.Lys1922Glu)
c.5812A>G (p.Lys1938Glu)
c.6061A>G (p.Lys2021Glu)
c.5689A>G (p.Lys1897Glu)
c.5722A>G (p.Lys1908Glu)
c.5713A>G (p.Lys1905Glu)
c.5887A>G (p.Lys1963Glu)
n.847A>G
n.2225A>G
n.852A>G
c.5866A>G (p.Lys1956Glu)
c.5845A>G (p.Lys1949Glu)
c.5746A>G (p.Lys1916Glu)
c.5782A>G (p.Lys1928Glu)
c.5779A>G (p.Lys1927Glu)
c.5773A>G (p.Lys1925Glu)
c.5806A>G (p.Lys1936Glu)
c.5740A>G (p.Lys1914Glu)
c.5350A>G (p.Lys1784Glu)
c.5494A>G (p.Lys1832Glu)
c.5389A>G (p.Lys1797Glu)
c.1795A>G (p.Lys599Glu)
c.5425A>G (p.Lys1809Glu)
c.5971A>G (p.Lys1991Glu)
n.333+3933T>C
c.5341A>G (p.Lys1781Glu)
c.4786A>G (p.Lys1596Glu)
c.2896A>G (p.Lys966Glu)
c.6040A>G (p.Lys2014Glu)
c.6544A>G (p.Lys2182Glu)
c.6439A>G (p.Lys2147Glu)
c.6226A>G (p.Lys2076Glu)
c.6169A>G (p.Lys2057Glu)
c.6085A>G (p.Lys2029Glu)
c.6070A>G (p.Lys2024Glu)
c.5974A>G (p.Lys1992Glu)
c.5965A>G (p.Lys1989Glu)
c.5947A>G (p.Lys1983Glu)
c.5941A>G (p.Lys1981Glu)
c.5914A>G (p.Lys1972Glu)
c.5908A>G (p.Lys1970Glu)
c.5890A>G (p.Lys1964Glu)
c.5884A>G (p.Lys1962Glu)
c.5881A>G (p.Lys1961Glu)
c.5857A>G (p.Lys1953Glu)
12g.2686207A>TCA383382611CACNA1C,CACNA1C-AS1c.5797A>T (p.Lys1933Ter)
c.5827A>T (p.Lys1943Ter)
c.5902A>T (p.Lys1968Ter)
c.5935A>T (p.Lys1979Ter)
c.5764A>T (p.Lys1922Ter)
c.5812A>T (p.Lys1938Ter)
c.6061A>T (p.Lys2021Ter)
c.5689A>T (p.Lys1897Ter)
c.5722A>T (p.Lys1908Ter)
c.5713A>T (p.Lys1905Ter)
c.5887A>T (p.Lys1963Ter)
n.847A>T
n.2225A>T
n.852A>T
c.5866A>T (p.Lys1956Ter)
c.5845A>T (p.Lys1949Ter)
c.5746A>T (p.Lys1916Ter)
c.5782A>T (p.Lys1928Ter)
c.5779A>T (p.Lys1927Ter)
c.5773A>T (p.Lys1925Ter)
c.5806A>T (p.Lys1936Ter)
c.5740A>T (p.Lys1914Ter)
c.5350A>T (p.Lys1784Ter)
c.5494A>T (p.Lys1832Ter)
c.5389A>T (p.Lys1797Ter)
c.1795A>T (p.Lys599Ter)
c.5425A>T (p.Lys1809Ter)
c.5971A>T (p.Lys1991Ter)
n.333+3933T>A
c.5341A>T (p.Lys1781Ter)
c.4786A>T (p.Lys1596Ter)
c.2896A>T (p.Lys966Ter)
c.6040A>T (p.Lys2014Ter)
c.6544A>T (p.Lys2182Ter)
c.6439A>T (p.Lys2147Ter)
c.6226A>T (p.Lys2076Ter)
c.6169A>T (p.Lys2057Ter)
c.6085A>T (p.Lys2029Ter)
c.6070A>T (p.Lys2024Ter)
c.5974A>T (p.Lys1992Ter)
c.5965A>T (p.Lys1989Ter)
c.5947A>T (p.Lys1983Ter)
c.5941A>T (p.Lys1981Ter)
c.5914A>T (p.Lys1972Ter)
c.5908A>T (p.Lys1970Ter)
c.5890A>T (p.Lys1964Ter)
c.5884A>T (p.Lys1962Ter)
c.5881A>T (p.Lys1961Ter)
c.5857A>T (p.Lys1953Ter)
 dbSNP
12g.2686208A>CCA383382613CACNA1C,CACNA1C-AS1c.5798A>C (p.Lys1933Thr)
c.5828A>C (p.Lys1943Thr)
c.5903A>C (p.Lys1968Thr)
c.5936A>C (p.Lys1979Thr)
c.5765A>C (p.Lys1922Thr)
c.5813A>C (p.Lys1938Thr)
c.6062A>C (p.Lys2021Thr)
c.5690A>C (p.Lys1897Thr)
c.5723A>C (p.Lys1908Thr)
c.5714A>C (p.Lys1905Thr)
c.5888A>C (p.Lys1963Thr)
n.848A>C
n.2226A>C
n.853A>C
c.5867A>C (p.Lys1956Thr)
c.5846A>C (p.Lys1949Thr)
c.5747A>C (p.Lys1916Thr)
c.5783A>C (p.Lys1928Thr)
c.5780A>C (p.Lys1927Thr)
c.5774A>C (p.Lys1925Thr)
c.5807A>C (p.Lys1936Thr)
c.5741A>C (p.Lys1914Thr)
c.5351A>C (p.Lys1784Thr)
c.5495A>C (p.Lys1832Thr)
c.5390A>C (p.Lys1797Thr)
c.1796A>C (p.Lys599Thr)
c.5426A>C (p.Lys1809Thr)
c.5972A>C (p.Lys1991Thr)
n.333+3932T>G
c.5342A>C (p.Lys1781Thr)
c.4787A>C (p.Lys1596Thr)
c.2897A>C (p.Lys966Thr)
c.6041A>C (p.Lys2014Thr)
c.6545A>C (p.Lys2182Thr)
c.6440A>C (p.Lys2147Thr)
c.6227A>C (p.Lys2076Thr)
c.6170A>C (p.Lys2057Thr)
c.6086A>C (p.Lys2029Thr)
c.6071A>C (p.Lys2024Thr)
c.5975A>C (p.Lys1992Thr)
c.5966A>C (p.Lys1989Thr)
c.5948A>C (p.Lys1983Thr)
c.5942A>C (p.Lys1981Thr)
c.5915A>C (p.Lys1972Thr)
c.5909A>C (p.Lys1970Thr)
c.5891A>C (p.Lys1964Thr)
c.5885A>C (p.Lys1962Thr)
c.5882A>C (p.Lys1961Thr)
c.5858A>C (p.Lys1953Thr)
12g.2686208A>GCA383382614CACNA1C,CACNA1C-AS1c.5798A>G (p.Lys1933Arg)
c.5828A>G (p.Lys1943Arg)
c.5903A>G (p.Lys1968Arg)
c.5936A>G (p.Lys1979Arg)
c.5765A>G (p.Lys1922Arg)
c.5813A>G (p.Lys1938Arg)
c.6062A>G (p.Lys2021Arg)
c.5690A>G (p.Lys1897Arg)
c.5723A>G (p.Lys1908Arg)
c.5714A>G (p.Lys1905Arg)
c.5888A>G (p.Lys1963Arg)
n.848A>G
n.2226A>G
n.853A>G
c.5867A>G (p.Lys1956Arg)
c.5846A>G (p.Lys1949Arg)
c.5747A>G (p.Lys1916Arg)
c.5783A>G (p.Lys1928Arg)
c.5780A>G (p.Lys1927Arg)
c.5774A>G (p.Lys1925Arg)
c.5807A>G (p.Lys1936Arg)
c.5741A>G (p.Lys1914Arg)
c.5351A>G (p.Lys1784Arg)
c.5495A>G (p.Lys1832Arg)
c.5390A>G (p.Lys1797Arg)
c.1796A>G (p.Lys599Arg)
c.5426A>G (p.Lys1809Arg)
c.5972A>G (p.Lys1991Arg)
n.333+3932T>C
c.5342A>G (p.Lys1781Arg)
c.4787A>G (p.Lys1596Arg)
c.2897A>G (p.Lys966Arg)
c.6041A>G (p.Lys2014Arg)
c.6545A>G (p.Lys2182Arg)
c.6440A>G (p.Lys2147Arg)
c.6227A>G (p.Lys2076Arg)
c.6170A>G (p.Lys2057Arg)
c.6086A>G (p.Lys2029Arg)
c.6071A>G (p.Lys2024Arg)
c.5975A>G (p.Lys1992Arg)
c.5966A>G (p.Lys1989Arg)
c.5948A>G (p.Lys1983Arg)
c.5942A>G (p.Lys1981Arg)
c.5915A>G (p.Lys1972Arg)
c.5909A>G (p.Lys1970Arg)
c.5891A>G (p.Lys1964Arg)
c.5885A>G (p.Lys1962Arg)
c.5882A>G (p.Lys1961Arg)
c.5858A>G (p.Lys1953Arg)
 dbSNP
12g.2686208A>TCA383382616CACNA1C,CACNA1C-AS1c.5798A>T (p.Lys1933Met)
c.5828A>T (p.Lys1943Met)
c.5903A>T (p.Lys1968Met)
c.5936A>T (p.Lys1979Met)
c.5765A>T (p.Lys1922Met)
c.5813A>T (p.Lys1938Met)
c.6062A>T (p.Lys2021Met)
c.5690A>T (p.Lys1897Met)
c.5723A>T (p.Lys1908Met)
c.5714A>T (p.Lys1905Met)
c.5888A>T (p.Lys1963Met)
n.848A>T
n.2226A>T
n.853A>T
c.5867A>T (p.Lys1956Met)
c.5846A>T (p.Lys1949Met)
c.5747A>T (p.Lys1916Met)
c.5783A>T (p.Lys1928Met)
c.5780A>T (p.Lys1927Met)
c.5774A>T (p.Lys1925Met)
c.5807A>T (p.Lys1936Met)
c.5741A>T (p.Lys1914Met)
c.5351A>T (p.Lys1784Met)
c.5495A>T (p.Lys1832Met)
c.5390A>T (p.Lys1797Met)
c.1796A>T (p.Lys599Met)
c.5426A>T (p.Lys1809Met)
c.5972A>T (p.Lys1991Met)
n.333+3932T>A
c.5342A>T (p.Lys1781Met)
c.4787A>T (p.Lys1596Met)
c.2897A>T (p.Lys966Met)
c.6041A>T (p.Lys2014Met)
c.6545A>T (p.Lys2182Met)
c.6440A>T (p.Lys2147Met)
c.6227A>T (p.Lys2076Met)
c.6170A>T (p.Lys2057Met)
c.6086A>T (p.Lys2029Met)
c.6071A>T (p.Lys2024Met)
c.5975A>T (p.Lys1992Met)
c.5966A>T (p.Lys1989Met)
c.5948A>T (p.Lys1983Met)
c.5942A>T (p.Lys1981Met)
c.5915A>T (p.Lys1972Met)
c.5909A>T (p.Lys1970Met)
c.5891A>T (p.Lys1964Met)
c.5885A>T (p.Lys1962Met)
c.5882A>T (p.Lys1961Met)
c.5858A>T (p.Lys1953Met)
12g.2686209G>ACA477902567CACNA1C,CACNA1C-AS1c.5799G>A (p.Lys1933=)
c.5829G>A (p.Lys1943=)
c.5904G>A (p.Lys1968=)
c.5937G>A (p.Lys1979=)
c.5766G>A (p.Lys1922=)
c.5814G>A (p.Lys1938=)
c.6063G>A (p.Lys2021=)
c.5691G>A (p.Lys1897=)
c.5724G>A (p.Lys1908=)
c.5715G>A (p.Lys1905=)
c.5889G>A (p.Lys1963=)
n.849G>A
n.2227G>A
n.854G>A
c.5868G>A (p.Lys1956=)
c.5847G>A (p.Lys1949=)
c.5748G>A (p.Lys1916=)
c.5784G>A (p.Lys1928=)
c.5781G>A (p.Lys1927=)
c.5775G>A (p.Lys1925=)
c.5808G>A (p.Lys1936=)
c.5742G>A (p.Lys1914=)
c.5352G>A (p.Lys1784=)
c.5496G>A (p.Lys1832=)
c.5391G>A (p.Lys1797=)
c.1797G>A (p.Lys599=)
c.5427G>A (p.Lys1809=)
c.5973G>A (p.Lys1991=)
n.333+3931C>T
c.5343G>A (p.Lys1781=)
c.4788G>A (p.Lys1596=)
c.2898G>A (p.Lys966=)
c.6042G>A (p.Lys2014=)
c.6546G>A (p.Lys2182=)
c.6441G>A (p.Lys2147=)
c.6228G>A (p.Lys2076=)
c.6171G>A (p.Lys2057=)
c.6087G>A (p.Lys2029=)
c.6072G>A (p.Lys2024=)
c.5976G>A (p.Lys1992=)
c.5967G>A (p.Lys1989=)
c.5949G>A (p.Lys1983=)
c.5943G>A (p.Lys1981=)
c.5916G>A (p.Lys1972=)
c.5910G>A (p.Lys1970=)
c.5892G>A (p.Lys1964=)
c.5886G>A (p.Lys1962=)
c.5883G>A (p.Lys1961=)
c.5859G>A (p.Lys1953=)
 gnomAD v4
12g.2686209G>CCA383382618CACNA1C,CACNA1C-AS1c.5799G>C (p.Lys1933Asn)
c.5829G>C (p.Lys1943Asn)
c.5904G>C (p.Lys1968Asn)
c.5937G>C (p.Lys1979Asn)
c.5766G>C (p.Lys1922Asn)
c.5814G>C (p.Lys1938Asn)
c.6063G>C (p.Lys2021Asn)
c.5691G>C (p.Lys1897Asn)
c.5724G>C (p.Lys1908Asn)
c.5715G>C (p.Lys1905Asn)
c.5889G>C (p.Lys1963Asn)
n.849G>C
n.2227G>C
n.854G>C
c.5868G>C (p.Lys1956Asn)
c.5847G>C (p.Lys1949Asn)
c.5748G>C (p.Lys1916Asn)
c.5784G>C (p.Lys1928Asn)
c.5781G>C (p.Lys1927Asn)
c.5775G>C (p.Lys1925Asn)
c.5808G>C (p.Lys1936Asn)
c.5742G>C (p.Lys1914Asn)
c.5352G>C (p.Lys1784Asn)
c.5496G>C (p.Lys1832Asn)
c.5391G>C (p.Lys1797Asn)
c.1797G>C (p.Lys599Asn)
c.5427G>C (p.Lys1809Asn)
c.5973G>C (p.Lys1991Asn)
n.333+3931C>G
c.5343G>C (p.Lys1781Asn)
c.4788G>C (p.Lys1596Asn)
c.2898G>C (p.Lys966Asn)
c.6042G>C (p.Lys2014Asn)
c.6546G>C (p.Lys2182Asn)
c.6441G>C (p.Lys2147Asn)
c.6228G>C (p.Lys2076Asn)
c.6171G>C (p.Lys2057Asn)
c.6087G>C (p.Lys2029Asn)
c.6072G>C (p.Lys2024Asn)
c.5976G>C (p.Lys1992Asn)
c.5967G>C (p.Lys1989Asn)
c.5949G>C (p.Lys1983Asn)
c.5943G>C (p.Lys1981Asn)
c.5916G>C (p.Lys1972Asn)
c.5910G>C (p.Lys1970Asn)
c.5892G>C (p.Lys1964Asn)
c.5886G>C (p.Lys1962Asn)
c.5883G>C (p.Lys1961Asn)
c.5859G>C (p.Lys1953Asn)
 gnomAD v4
12g.2686209G>TCA383382621CACNA1C,CACNA1C-AS1c.5799G>T (p.Lys1933Asn)
c.5829G>T (p.Lys1943Asn)
c.5904G>T (p.Lys1968Asn)
c.5937G>T (p.Lys1979Asn)
c.5766G>T (p.Lys1922Asn)
c.5814G>T (p.Lys1938Asn)
c.6063G>T (p.Lys2021Asn)
c.5691G>T (p.Lys1897Asn)
c.5724G>T (p.Lys1908Asn)
c.5715G>T (p.Lys1905Asn)
c.5889G>T (p.Lys1963Asn)
n.849G>T
n.2227G>T
n.854G>T
c.5868G>T (p.Lys1956Asn)
c.5847G>T (p.Lys1949Asn)
c.5748G>T (p.Lys1916Asn)
c.5784G>T (p.Lys1928Asn)
c.5781G>T (p.Lys1927Asn)
c.5775G>T (p.Lys1925Asn)
c.5808G>T (p.Lys1936Asn)
c.5742G>T (p.Lys1914Asn)
c.5352G>T (p.Lys1784Asn)
c.5496G>T (p.Lys1832Asn)
c.5391G>T (p.Lys1797Asn)
c.1797G>T (p.Lys599Asn)
c.5427G>T (p.Lys1809Asn)
c.5973G>T (p.Lys1991Asn)
n.333+3931C>A
c.5343G>T (p.Lys1781Asn)
c.4788G>T (p.Lys1596Asn)
c.2898G>T (p.Lys966Asn)
c.6042G>T (p.Lys2014Asn)
c.6546G>T (p.Lys2182Asn)
c.6441G>T (p.Lys2147Asn)
c.6228G>T (p.Lys2076Asn)
c.6171G>T (p.Lys2057Asn)
c.6087G>T (p.Lys2029Asn)
c.6072G>T (p.Lys2024Asn)
c.5976G>T (p.Lys1992Asn)
c.5967G>T (p.Lys1989Asn)
c.5949G>T (p.Lys1983Asn)
c.5943G>T (p.Lys1981Asn)
c.5916G>T (p.Lys1972Asn)
c.5910G>T (p.Lys1970Asn)
c.5892G>T (p.Lys1964Asn)
c.5886G>T (p.Lys1962Asn)
c.5883G>T (p.Lys1961Asn)
c.5859G>T (p.Lys1953Asn)
12g.2686210G>ACA383382623CACNA1C,CACNA1C-AS1c.5800G>A (p.Asp1934Asn)
c.5830G>A (p.Asp1944Asn)
c.5905G>A (p.Asp1969Asn)
c.5938G>A (p.Asp1980Asn)
c.5767G>A (p.Asp1923Asn)
c.5815G>A (p.Asp1939Asn)
c.6064G>A (p.Asp2022Asn)
c.5692G>A (p.Asp1898Asn)
c.5725G>A (p.Asp1909Asn)
c.5716G>A (p.Asp1906Asn)
c.5890G>A (p.Asp1964Asn)
n.850G>A
n.2228G>A
n.855G>A
c.5869G>A (p.Asp1957Asn)
c.5848G>A (p.Asp1950Asn)
c.5749G>A (p.Asp1917Asn)
c.5785G>A (p.Asp1929Asn)
c.5782G>A (p.Asp1928Asn)
c.5776G>A (p.Asp1926Asn)
c.5809G>A (p.Asp1937Asn)
c.5743G>A (p.Asp1915Asn)
c.5353G>A (p.Asp1785Asn)
c.5497G>A (p.Asp1833Asn)
c.5392G>A (p.Asp1798Asn)
c.1798G>A (p.Asp600Asn)
c.5428G>A (p.Asp1810Asn)
c.5974G>A (p.Asp1992Asn)
n.333+3930C>T
c.5344G>A (p.Asp1782Asn)
c.4789G>A (p.Asp1597Asn)
c.2899G>A (p.Asp967Asn)
c.6043G>A (p.Asp2015Asn)
c.6547G>A (p.Asp2183Asn)
c.6442G>A (p.Asp2148Asn)
c.6229G>A (p.Asp2077Asn)
c.6172G>A (p.Asp2058Asn)
c.6088G>A (p.Asp2030Asn)
c.6073G>A (p.Asp2025Asn)
c.5977G>A (p.Asp1993Asn)
c.5968G>A (p.Asp1990Asn)
c.5950G>A (p.Asp1984Asn)
c.5944G>A (p.Asp1982Asn)
c.5917G>A (p.Asp1973Asn)
c.5911G>A (p.Asp1971Asn)
c.5893G>A (p.Asp1965Asn)
c.5887G>A (p.Asp1963Asn)
c.5884G>A (p.Asp1962Asn)
c.5860G>A (p.Asp1954Asn)
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686210G>CCA383382625CACNA1C,CACNA1C-AS1c.5800G>C (p.Asp1934His)
c.5830G>C (p.Asp1944His)
c.5905G>C (p.Asp1969His)
c.5938G>C (p.Asp1980His)
c.5767G>C (p.Asp1923His)
c.5815G>C (p.Asp1939His)
c.6064G>C (p.Asp2022His)
c.5692G>C (p.Asp1898His)
c.5725G>C (p.Asp1909His)
c.5716G>C (p.Asp1906His)
c.5890G>C (p.Asp1964His)
n.850G>C
n.2228G>C
n.855G>C
c.5869G>C (p.Asp1957His)
c.5848G>C (p.Asp1950His)
c.5749G>C (p.Asp1917His)
c.5785G>C (p.Asp1929His)
c.5782G>C (p.Asp1928His)
c.5776G>C (p.Asp1926His)
c.5809G>C (p.Asp1937His)
c.5743G>C (p.Asp1915His)
c.5353G>C (p.Asp1785His)
c.5497G>C (p.Asp1833His)
c.5392G>C (p.Asp1798His)
c.1798G>C (p.Asp600His)
c.5428G>C (p.Asp1810His)
c.5974G>C (p.Asp1992His)
n.333+3930C>G
c.5344G>C (p.Asp1782His)
c.4789G>C (p.Asp1597His)
c.2899G>C (p.Asp967His)
c.6043G>C (p.Asp2015His)
c.6547G>C (p.Asp2183His)
c.6442G>C (p.Asp2148His)
c.6229G>C (p.Asp2077His)
c.6172G>C (p.Asp2058His)
c.6088G>C (p.Asp2030His)
c.6073G>C (p.Asp2025His)
c.5977G>C (p.Asp1993His)
c.5968G>C (p.Asp1990His)
c.5950G>C (p.Asp1984His)
c.5944G>C (p.Asp1982His)
c.5917G>C (p.Asp1973His)
c.5911G>C (p.Asp1971His)
c.5893G>C (p.Asp1965His)
c.5887G>C (p.Asp1963His)
c.5884G>C (p.Asp1962His)
c.5860G>C (p.Asp1954His)
12g.2686210G>TCA383382627CACNA1C,CACNA1C-AS1c.5800G>T (p.Asp1934Tyr)
c.5830G>T (p.Asp1944Tyr)
c.5905G>T (p.Asp1969Tyr)
c.5938G>T (p.Asp1980Tyr)
c.5767G>T (p.Asp1923Tyr)
c.5815G>T (p.Asp1939Tyr)
c.6064G>T (p.Asp2022Tyr)
c.5692G>T (p.Asp1898Tyr)
c.5725G>T (p.Asp1909Tyr)
c.5716G>T (p.Asp1906Tyr)
c.5890G>T (p.Asp1964Tyr)
n.850G>T
n.2228G>T
n.855G>T
c.5869G>T (p.Asp1957Tyr)
c.5848G>T (p.Asp1950Tyr)
c.5749G>T (p.Asp1917Tyr)
c.5785G>T (p.Asp1929Tyr)
c.5782G>T (p.Asp1928Tyr)
c.5776G>T (p.Asp1926Tyr)
c.5809G>T (p.Asp1937Tyr)
c.5743G>T (p.Asp1915Tyr)
c.5353G>T (p.Asp1785Tyr)
c.5497G>T (p.Asp1833Tyr)
c.5392G>T (p.Asp1798Tyr)
c.1798G>T (p.Asp600Tyr)
c.5428G>T (p.Asp1810Tyr)
c.5974G>T (p.Asp1992Tyr)
n.333+3930C>A
c.5344G>T (p.Asp1782Tyr)
c.4789G>T (p.Asp1597Tyr)
c.2899G>T (p.Asp967Tyr)
c.6043G>T (p.Asp2015Tyr)
c.6547G>T (p.Asp2183Tyr)
c.6442G>T (p.Asp2148Tyr)
c.6229G>T (p.Asp2077Tyr)
c.6172G>T (p.Asp2058Tyr)
c.6088G>T (p.Asp2030Tyr)
c.6073G>T (p.Asp2025Tyr)
c.5977G>T (p.Asp1993Tyr)
c.5968G>T (p.Asp1990Tyr)
c.5950G>T (p.Asp1984Tyr)
c.5944G>T (p.Asp1982Tyr)
c.5917G>T (p.Asp1973Tyr)
c.5911G>T (p.Asp1971Tyr)
c.5893G>T (p.Asp1965Tyr)
c.5887G>T (p.Asp1963Tyr)
c.5884G>T (p.Asp1962Tyr)
c.5860G>T (p.Asp1954Tyr)
12g.2686211A=CA2012350970CACNA1C,CACNA1C-AS1c.5801A= (p.Asp1934=)
c.5831A= (p.Asp1944=)
c.5906A= (p.Asp1969=)
c.5939A= (p.Asp1980=)
c.5768A= (p.Asp1923=)
c.5816A= (p.Asp1939=)
c.6065A= (p.Asp2022=)
c.5693A= (p.Asp1898=)
c.5726A= (p.Asp1909=)
c.5717A= (p.Asp1906=)
c.5891A= (p.Asp1964=)
n.851A=
n.2229A=
n.856A=
c.5870A= (p.Asp1957=)
c.5849A= (p.Asp1950=)
c.5750A= (p.Asp1917=)
c.5786A= (p.Asp1929=)
c.5783A= (p.Asp1928=)
c.5777A= (p.Asp1926=)
c.5810A= (p.Asp1937=)
c.5744A= (p.Asp1915=)
c.5354A= (p.Asp1785=)
c.5498A= (p.Asp1833=)
c.5393A= (p.Asp1798=)
c.1799A= (p.Asp600=)
c.5429A= (p.Asp1810=)
c.5975A= (p.Asp1992=)
n.333+3929T=
c.5345A= (p.Asp1782=)
c.4790A= (p.Asp1597=)
c.2900A= (p.Asp967=)
c.6044A= (p.Asp2015=)
c.6548A= (p.Asp2183=)
c.6443A= (p.Asp2148=)
c.6230A= (p.Asp2077=)
c.6173A= (p.Asp2058=)
c.6089A= (p.Asp2030=)
c.6074A= (p.Asp2025=)
c.5978A= (p.Asp1993=)
c.5969A= (p.Asp1990=)
c.5951A= (p.Asp1984=)
c.5945A= (p.Asp1982=)
c.5918A= (p.Asp1973=)
c.5912A= (p.Asp1971=)
c.5894A= (p.Asp1965=)
c.5888A= (p.Asp1963=)
c.5885A= (p.Asp1962=)
c.5861A= (p.Asp1954=)
12g.2686211A>CCA383382628CACNA1C,CACNA1C-AS1c.5801A>C (p.Asp1934Ala)
c.5831A>C (p.Asp1944Ala)
c.5906A>C (p.Asp1969Ala)
c.5939A>C (p.Asp1980Ala)
c.5768A>C (p.Asp1923Ala)
c.5816A>C (p.Asp1939Ala)
c.6065A>C (p.Asp2022Ala)
c.5693A>C (p.Asp1898Ala)
c.5726A>C (p.Asp1909Ala)
c.5717A>C (p.Asp1906Ala)
c.5891A>C (p.Asp1964Ala)
n.851A>C
n.2229A>C
n.856A>C
c.5870A>C (p.Asp1957Ala)
c.5849A>C (p.Asp1950Ala)
c.5750A>C (p.Asp1917Ala)
c.5786A>C (p.Asp1929Ala)
c.5783A>C (p.Asp1928Ala)
c.5777A>C (p.Asp1926Ala)
c.5810A>C (p.Asp1937Ala)
c.5744A>C (p.Asp1915Ala)
c.5354A>C (p.Asp1785Ala)
c.5498A>C (p.Asp1833Ala)
c.5393A>C (p.Asp1798Ala)
c.1799A>C (p.Asp600Ala)
c.5429A>C (p.Asp1810Ala)
c.5975A>C (p.Asp1992Ala)
n.333+3929T>G
c.5345A>C (p.Asp1782Ala)
c.4790A>C (p.Asp1597Ala)
c.2900A>C (p.Asp967Ala)
c.6044A>C (p.Asp2015Ala)
c.6548A>C (p.Asp2183Ala)
c.6443A>C (p.Asp2148Ala)
c.6230A>C (p.Asp2077Ala)
c.6173A>C (p.Asp2058Ala)
c.6089A>C (p.Asp2030Ala)
c.6074A>C (p.Asp2025Ala)
c.5978A>C (p.Asp1993Ala)
c.5969A>C (p.Asp1990Ala)
c.5951A>C (p.Asp1984Ala)
c.5945A>C (p.Asp1982Ala)
c.5918A>C (p.Asp1973Ala)
c.5912A>C (p.Asp1971Ala)
c.5894A>C (p.Asp1965Ala)
c.5888A>C (p.Asp1963Ala)
c.5885A>C (p.Asp1962Ala)
c.5861A>C (p.Asp1954Ala)
12g.2686211A>GCA383382629CACNA1C,CACNA1C-AS1c.5801A>G (p.Asp1934Gly)
c.5831A>G (p.Asp1944Gly)
c.5906A>G (p.Asp1969Gly)
c.5939A>G (p.Asp1980Gly)
c.5768A>G (p.Asp1923Gly)
c.5816A>G (p.Asp1939Gly)
c.6065A>G (p.Asp2022Gly)
c.5693A>G (p.Asp1898Gly)
c.5726A>G (p.Asp1909Gly)
c.5717A>G (p.Asp1906Gly)
c.5891A>G (p.Asp1964Gly)
n.851A>G
n.2229A>G
n.856A>G
c.5870A>G (p.Asp1957Gly)
c.5849A>G (p.Asp1950Gly)
c.5750A>G (p.Asp1917Gly)
c.5786A>G (p.Asp1929Gly)
c.5783A>G (p.Asp1928Gly)
c.5777A>G (p.Asp1926Gly)
c.5810A>G (p.Asp1937Gly)
c.5744A>G (p.Asp1915Gly)
c.5354A>G (p.Asp1785Gly)
c.5498A>G (p.Asp1833Gly)
c.5393A>G (p.Asp1798Gly)
c.1799A>G (p.Asp600Gly)
c.5429A>G (p.Asp1810Gly)
c.5975A>G (p.Asp1992Gly)
n.333+3929T>C
c.5345A>G (p.Asp1782Gly)
c.4790A>G (p.Asp1597Gly)
c.2900A>G (p.Asp967Gly)
c.6044A>G (p.Asp2015Gly)
c.6548A>G (p.Asp2183Gly)
c.6443A>G (p.Asp2148Gly)
c.6230A>G (p.Asp2077Gly)
c.6173A>G (p.Asp2058Gly)
c.6089A>G (p.Asp2030Gly)
c.6074A>G (p.Asp2025Gly)
c.5978A>G (p.Asp1993Gly)
c.5969A>G (p.Asp1990Gly)
c.5951A>G (p.Asp1984Gly)
c.5945A>G (p.Asp1982Gly)
c.5918A>G (p.Asp1973Gly)
c.5912A>G (p.Asp1971Gly)
c.5894A>G (p.Asp1965Gly)
c.5888A>G (p.Asp1963Gly)
c.5885A>G (p.Asp1962Gly)
c.5861A>G (p.Asp1954Gly)
12g.2686211A>TCA6389956CACNA1C,CACNA1C-AS1c.5801A>T (p.Asp1934Val)
c.5831A>T (p.Asp1944Val)
c.5906A>T (p.Asp1969Val)
c.5939A>T (p.Asp1980Val)
c.5768A>T (p.Asp1923Val)
c.5816A>T (p.Asp1939Val)
c.6065A>T (p.Asp2022Val)
c.5693A>T (p.Asp1898Val)
c.5726A>T (p.Asp1909Val)
c.5717A>T (p.Asp1906Val)
c.5891A>T (p.Asp1964Val)
n.851A>T
n.2229A>T
n.856A>T
c.5870A>T (p.Asp1957Val)
c.5849A>T (p.Asp1950Val)
c.5750A>T (p.Asp1917Val)
c.5786A>T (p.Asp1929Val)
c.5783A>T (p.Asp1928Val)
c.5777A>T (p.Asp1926Val)
c.5810A>T (p.Asp1937Val)
c.5744A>T (p.Asp1915Val)
c.5354A>T (p.Asp1785Val)
c.5498A>T (p.Asp1833Val)
c.5393A>T (p.Asp1798Val)
c.1799A>T (p.Asp600Val)
c.5429A>T (p.Asp1810Val)
c.5975A>T (p.Asp1992Val)
n.333+3929T>A
c.5345A>T (p.Asp1782Val)
c.4790A>T (p.Asp1597Val)
c.2900A>T (p.Asp967Val)
c.6044A>T (p.Asp2015Val)
c.6548A>T (p.Asp2183Val)
c.6443A>T (p.Asp2148Val)
c.6230A>T (p.Asp2077Val)
c.6173A>T (p.Asp2058Val)
c.6089A>T (p.Asp2030Val)
c.6074A>T (p.Asp2025Val)
c.5978A>T (p.Asp1993Val)
c.5969A>T (p.Asp1990Val)
c.5951A>T (p.Asp1984Val)
c.5945A>T (p.Asp1982Val)
c.5918A>T (p.Asp1973Val)
c.5912A>T (p.Asp1971Val)
c.5894A>T (p.Asp1965Val)
c.5888A>T (p.Asp1963Val)
c.5885A>T (p.Asp1962Val)
c.5861A>T (p.Asp1954Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686212C>ACA383382633CACNA1C,CACNA1C-AS1c.5802C>A (p.Asp1934Glu)
c.5832C>A (p.Asp1944Glu)
c.5907C>A (p.Asp1969Glu)
c.5940C>A (p.Asp1980Glu)
c.5769C>A (p.Asp1923Glu)
c.5817C>A (p.Asp1939Glu)
c.6066C>A (p.Asp2022Glu)
c.5694C>A (p.Asp1898Glu)
c.5727C>A (p.Asp1909Glu)
c.5718C>A (p.Asp1906Glu)
c.5892C>A (p.Asp1964Glu)
n.852C>A
n.2230C>A
n.857C>A
c.5871C>A (p.Asp1957Glu)
c.5850C>A (p.Asp1950Glu)
c.5751C>A (p.Asp1917Glu)
c.5787C>A (p.Asp1929Glu)
c.5784C>A (p.Asp1928Glu)
c.5778C>A (p.Asp1926Glu)
c.5811C>A (p.Asp1937Glu)
c.5745C>A (p.Asp1915Glu)
c.5355C>A (p.Asp1785Glu)
c.5499C>A (p.Asp1833Glu)
c.5394C>A (p.Asp1798Glu)
c.1800C>A (p.Asp600Glu)
c.5430C>A (p.Asp1810Glu)
c.5976C>A (p.Asp1992Glu)
n.333+3928G>T
c.5346C>A (p.Asp1782Glu)
c.4791C>A (p.Asp1597Glu)
c.2901C>A (p.Asp967Glu)
c.6045C>A (p.Asp2015Glu)
c.6549C>A (p.Asp2183Glu)
c.6444C>A (p.Asp2148Glu)
c.6231C>A (p.Asp2077Glu)
c.6174C>A (p.Asp2058Glu)
c.6090C>A (p.Asp2030Glu)
c.6075C>A (p.Asp2025Glu)
c.5979C>A (p.Asp1993Glu)
c.5970C>A (p.Asp1990Glu)
c.5952C>A (p.Asp1984Glu)
c.5946C>A (p.Asp1982Glu)
c.5919C>A (p.Asp1973Glu)
c.5913C>A (p.Asp1971Glu)
c.5895C>A (p.Asp1965Glu)
c.5889C>A (p.Asp1963Glu)
c.5886C>A (p.Asp1962Glu)
c.5862C>A (p.Asp1954Glu)
12g.2686212C>GCA383382631CACNA1C,CACNA1C-AS1c.5802C>G (p.Asp1934Glu)
c.5832C>G (p.Asp1944Glu)
c.5907C>G (p.Asp1969Glu)
c.5940C>G (p.Asp1980Glu)
c.5769C>G (p.Asp1923Glu)
c.5817C>G (p.Asp1939Glu)
c.6066C>G (p.Asp2022Glu)
c.5694C>G (p.Asp1898Glu)
c.5727C>G (p.Asp1909Glu)
c.5718C>G (p.Asp1906Glu)
c.5892C>G (p.Asp1964Glu)
n.852C>G
n.2230C>G
n.857C>G
c.5871C>G (p.Asp1957Glu)
c.5850C>G (p.Asp1950Glu)
c.5751C>G (p.Asp1917Glu)
c.5787C>G (p.Asp1929Glu)
c.5784C>G (p.Asp1928Glu)
c.5778C>G (p.Asp1926Glu)
c.5811C>G (p.Asp1937Glu)
c.5745C>G (p.Asp1915Glu)
c.5355C>G (p.Asp1785Glu)
c.5499C>G (p.Asp1833Glu)
c.5394C>G (p.Asp1798Glu)
c.1800C>G (p.Asp600Glu)
c.5430C>G (p.Asp1810Glu)
c.5976C>G (p.Asp1992Glu)
n.333+3928G>C
c.5346C>G (p.Asp1782Glu)
c.4791C>G (p.Asp1597Glu)
c.2901C>G (p.Asp967Glu)
c.6045C>G (p.Asp2015Glu)
c.6549C>G (p.Asp2183Glu)
c.6444C>G (p.Asp2148Glu)
c.6231C>G (p.Asp2077Glu)
c.6174C>G (p.Asp2058Glu)
c.6090C>G (p.Asp2030Glu)
c.6075C>G (p.Asp2025Glu)
c.5979C>G (p.Asp1993Glu)
c.5970C>G (p.Asp1990Glu)
c.5952C>G (p.Asp1984Glu)
c.5946C>G (p.Asp1982Glu)
c.5919C>G (p.Asp1973Glu)
c.5913C>G (p.Asp1971Glu)
c.5895C>G (p.Asp1965Glu)
c.5889C>G (p.Asp1963Glu)
c.5886C>G (p.Asp1962Glu)
c.5862C>G (p.Asp1954Glu)
12g.2686212C>TCA477902579CACNA1C,CACNA1C-AS1c.5802C>T (p.Asp1934=)
c.5832C>T (p.Asp1944=)
c.5907C>T (p.Asp1969=)
c.5940C>T (p.Asp1980=)
c.5769C>T (p.Asp1923=)
c.5817C>T (p.Asp1939=)
c.6066C>T (p.Asp2022=)
c.5694C>T (p.Asp1898=)
c.5727C>T (p.Asp1909=)
c.5718C>T (p.Asp1906=)
c.5892C>T (p.Asp1964=)
n.852C>T
n.2230C>T
n.857C>T
c.5871C>T (p.Asp1957=)
c.5850C>T (p.Asp1950=)
c.5751C>T (p.Asp1917=)
c.5787C>T (p.Asp1929=)
c.5784C>T (p.Asp1928=)
c.5778C>T (p.Asp1926=)
c.5811C>T (p.Asp1937=)
c.5745C>T (p.Asp1915=)
c.5355C>T (p.Asp1785=)
c.5499C>T (p.Asp1833=)
c.5394C>T (p.Asp1798=)
c.1800C>T (p.Asp600=)
c.5430C>T (p.Asp1810=)
c.5976C>T (p.Asp1992=)
n.333+3928G>A
c.5346C>T (p.Asp1782=)
c.4791C>T (p.Asp1597=)
c.2901C>T (p.Asp967=)
c.6045C>T (p.Asp2015=)
c.6549C>T (p.Asp2183=)
c.6444C>T (p.Asp2148=)
c.6231C>T (p.Asp2077=)
c.6174C>T (p.Asp2058=)
c.6090C>T (p.Asp2030=)
c.6075C>T (p.Asp2025=)
c.5979C>T (p.Asp1993=)
c.5970C>T (p.Asp1990=)
c.5952C>T (p.Asp1984=)
c.5946C>T (p.Asp1982=)
c.5919C>T (p.Asp1973=)
c.5913C>T (p.Asp1971=)
c.5895C>T (p.Asp1965=)
c.5889C>T (p.Asp1963=)
c.5886C>T (p.Asp1962=)
c.5862C>T (p.Asp1954=)
 gnomAD v4
12g.2686213C>ACA477902582CACNA1C,CACNA1C-AS1c.5803C>A (p.Arg1935=)
c.5833C>A (p.Arg1945=)
c.5908C>A (p.Arg1970=)
c.5941C>A (p.Arg1981=)
c.5770C>A (p.Arg1924=)
c.5818C>A (p.Arg1940=)
c.6067C>A (p.Arg2023=)
c.5695C>A (p.Arg1899=)
c.5728C>A (p.Arg1910=)
c.5719C>A (p.Arg1907=)
c.5893C>A (p.Arg1965=)
n.853C>A
n.2231C>A
n.858C>A
c.5872C>A (p.Arg1958=)
c.5851C>A (p.Arg1951=)
c.5752C>A (p.Arg1918=)
c.5788C>A (p.Arg1930=)
c.5785C>A (p.Arg1929=)
c.5779C>A (p.Arg1927=)
c.5812C>A (p.Arg1938=)
c.5746C>A (p.Arg1916=)
c.5356C>A (p.Arg1786=)
c.5500C>A (p.Arg1834=)
c.5395C>A (p.Arg1799=)
c.1801C>A (p.Arg601=)
c.5431C>A (p.Arg1811=)
c.5977C>A (p.Arg1993=)
n.333+3927G>T
c.5347C>A (p.Arg1783=)
c.4792C>A (p.Arg1598=)
c.2902C>A (p.Arg968=)
c.6046C>A (p.Arg2016=)
c.6550C>A (p.Arg2184=)
c.6445C>A (p.Arg2149=)
c.6232C>A (p.Arg2078=)
c.6175C>A (p.Arg2059=)
c.6091C>A (p.Arg2031=)
c.6076C>A (p.Arg2026=)
c.5980C>A (p.Arg1994=)
c.5971C>A (p.Arg1991=)
c.5953C>A (p.Arg1985=)
c.5947C>A (p.Arg1983=)
c.5920C>A (p.Arg1974=)
c.5914C>A (p.Arg1972=)
c.5896C>A (p.Arg1966=)
c.5890C>A (p.Arg1964=)
c.5887C>A (p.Arg1963=)
c.5863C>A (p.Arg1955=)
12g.2686213C=CA2012350971CACNA1C,CACNA1C-AS1c.5803C= (p.Arg1935=)
c.5833C= (p.Arg1945=)
c.5908C= (p.Arg1970=)
c.5941C= (p.Arg1981=)
c.5770C= (p.Arg1924=)
c.5818C= (p.Arg1940=)
c.6067C= (p.Arg2023=)
c.5695C= (p.Arg1899=)
c.5728C= (p.Arg1910=)
c.5719C= (p.Arg1907=)
c.5893C= (p.Arg1965=)
n.853C=
n.2231C=
n.858C=
c.5872C= (p.Arg1958=)
c.5851C= (p.Arg1951=)
c.5752C= (p.Arg1918=)
c.5788C= (p.Arg1930=)
c.5785C= (p.Arg1929=)
c.5779C= (p.Arg1927=)
c.5812C= (p.Arg1938=)
c.5746C= (p.Arg1916=)
c.5356C= (p.Arg1786=)
c.5500C= (p.Arg1834=)
c.5395C= (p.Arg1799=)
c.1801C= (p.Arg601=)
c.5431C= (p.Arg1811=)
c.5977C= (p.Arg1993=)
n.333+3927G=
c.5347C= (p.Arg1783=)
c.4792C= (p.Arg1598=)
c.2902C= (p.Arg968=)
c.6046C= (p.Arg2016=)
c.6550C= (p.Arg2184=)
c.6445C= (p.Arg2149=)
c.6232C= (p.Arg2078=)
c.6175C= (p.Arg2059=)
c.6091C= (p.Arg2031=)
c.6076C= (p.Arg2026=)
c.5980C= (p.Arg1994=)
c.5971C= (p.Arg1991=)
c.5953C= (p.Arg1985=)
c.5947C= (p.Arg1983=)
c.5920C= (p.Arg1974=)
c.5914C= (p.Arg1972=)
c.5896C= (p.Arg1966=)
c.5890C= (p.Arg1964=)
c.5887C= (p.Arg1963=)
c.5863C= (p.Arg1955=)
12g.2686213C>GCA383382635CACNA1C,CACNA1C-AS1c.5803C>G (p.Arg1935Gly)
c.5833C>G (p.Arg1945Gly)
c.5908C>G (p.Arg1970Gly)
c.5941C>G (p.Arg1981Gly)
c.5770C>G (p.Arg1924Gly)
c.5818C>G (p.Arg1940Gly)
c.6067C>G (p.Arg2023Gly)
c.5695C>G (p.Arg1899Gly)
c.5728C>G (p.Arg1910Gly)
c.5719C>G (p.Arg1907Gly)
c.5893C>G (p.Arg1965Gly)
n.853C>G
n.2231C>G
n.858C>G
c.5872C>G (p.Arg1958Gly)
c.5851C>G (p.Arg1951Gly)
c.5752C>G (p.Arg1918Gly)
c.5788C>G (p.Arg1930Gly)
c.5785C>G (p.Arg1929Gly)
c.5779C>G (p.Arg1927Gly)
c.5812C>G (p.Arg1938Gly)
c.5746C>G (p.Arg1916Gly)
c.5356C>G (p.Arg1786Gly)
c.5500C>G (p.Arg1834Gly)
c.5395C>G (p.Arg1799Gly)
c.1801C>G (p.Arg601Gly)
c.5431C>G (p.Arg1811Gly)
c.5977C>G (p.Arg1993Gly)
n.333+3927G>C
c.5347C>G (p.Arg1783Gly)
c.4792C>G (p.Arg1598Gly)
c.2902C>G (p.Arg968Gly)
c.6046C>G (p.Arg2016Gly)
c.6550C>G (p.Arg2184Gly)
c.6445C>G (p.Arg2149Gly)
c.6232C>G (p.Arg2078Gly)
c.6175C>G (p.Arg2059Gly)
c.6091C>G (p.Arg2031Gly)
c.6076C>G (p.Arg2026Gly)
c.5980C>G (p.Arg1994Gly)
c.5971C>G (p.Arg1991Gly)
c.5953C>G (p.Arg1985Gly)
c.5947C>G (p.Arg1983Gly)
c.5920C>G (p.Arg1974Gly)
c.5914C>G (p.Arg1972Gly)
c.5896C>G (p.Arg1966Gly)
c.5890C>G (p.Arg1964Gly)
c.5887C>G (p.Arg1963Gly)
c.5863C>G (p.Arg1955Gly)
 ClinVar dbSNP COSMIC COSMIC COSMIC
12g.2686213C>TCA383382637CACNA1C,CACNA1C-AS1c.5803C>T (p.Arg1935Ter)
c.5833C>T (p.Arg1945Ter)
c.5908C>T (p.Arg1970Ter)
c.5941C>T (p.Arg1981Ter)
c.5770C>T (p.Arg1924Ter)
c.5818C>T (p.Arg1940Ter)
c.6067C>T (p.Arg2023Ter)
c.5695C>T (p.Arg1899Ter)
c.5728C>T (p.Arg1910Ter)
c.5719C>T (p.Arg1907Ter)
c.5893C>T (p.Arg1965Ter)
n.853C>T
n.2231C>T
n.858C>T
c.5872C>T (p.Arg1958Ter)
c.5851C>T (p.Arg1951Ter)
c.5752C>T (p.Arg1918Ter)
c.5788C>T (p.Arg1930Ter)
c.5785C>T (p.Arg1929Ter)
c.5779C>T (p.Arg1927Ter)
c.5812C>T (p.Arg1938Ter)
c.5746C>T (p.Arg1916Ter)
c.5356C>T (p.Arg1786Ter)
c.5500C>T (p.Arg1834Ter)
c.5395C>T (p.Arg1799Ter)
c.1801C>T (p.Arg601Ter)
c.5431C>T (p.Arg1811Ter)
c.5977C>T (p.Arg1993Ter)
n.333+3927G>A
c.5347C>T (p.Arg1783Ter)
c.4792C>T (p.Arg1598Ter)
c.2902C>T (p.Arg968Ter)
c.6046C>T (p.Arg2016Ter)
c.6550C>T (p.Arg2184Ter)
c.6445C>T (p.Arg2149Ter)
c.6232C>T (p.Arg2078Ter)
c.6175C>T (p.Arg2059Ter)
c.6091C>T (p.Arg2031Ter)
c.6076C>T (p.Arg2026Ter)
c.5980C>T (p.Arg1994Ter)
c.5971C>T (p.Arg1991Ter)
c.5953C>T (p.Arg1985Ter)
c.5947C>T (p.Arg1983Ter)
c.5920C>T (p.Arg1974Ter)
c.5914C>T (p.Arg1972Ter)
c.5896C>T (p.Arg1966Ter)
c.5890C>T (p.Arg1964Ter)
c.5887C>T (p.Arg1963Ter)
c.5863C>T (p.Arg1955Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686214G>ACA6389957CACNA1C,CACNA1C-AS1c.5804G>A (p.Arg1935Gln)
c.5834G>A (p.Arg1945Gln)
c.5909G>A (p.Arg1970Gln)
c.5942G>A (p.Arg1981Gln)
c.5771G>A (p.Arg1924Gln)
c.5819G>A (p.Arg1940Gln)
c.6068G>A (p.Arg2023Gln)
c.5696G>A (p.Arg1899Gln)
c.5729G>A (p.Arg1910Gln)
c.5720G>A (p.Arg1907Gln)
c.5894G>A (p.Arg1965Gln)
n.854G>A
n.2232G>A
n.859G>A
c.5873G>A (p.Arg1958Gln)
c.5852G>A (p.Arg1951Gln)
c.5753G>A (p.Arg1918Gln)
c.5789G>A (p.Arg1930Gln)
c.5786G>A (p.Arg1929Gln)
c.5780G>A (p.Arg1927Gln)
c.5813G>A (p.Arg1938Gln)
c.5747G>A (p.Arg1916Gln)
c.5357G>A (p.Arg1786Gln)
c.5501G>A (p.Arg1834Gln)
c.5396G>A (p.Arg1799Gln)
c.1802G>A (p.Arg601Gln)
c.5432G>A (p.Arg1811Gln)
c.5978G>A (p.Arg1993Gln)
n.333+3926C>T
c.5348G>A (p.Arg1783Gln)
c.4793G>A (p.Arg1598Gln)
c.2903G>A (p.Arg968Gln)
c.6047G>A (p.Arg2016Gln)
c.6551G>A (p.Arg2184Gln)
c.6446G>A (p.Arg2149Gln)
c.6233G>A (p.Arg2078Gln)
c.6176G>A (p.Arg2059Gln)
c.6092G>A (p.Arg2031Gln)
c.6077G>A (p.Arg2026Gln)
c.5981G>A (p.Arg1994Gln)
c.5972G>A (p.Arg1991Gln)
c.5954G>A (p.Arg1985Gln)
c.5948G>A (p.Arg1983Gln)
c.5921G>A (p.Arg1974Gln)
c.5915G>A (p.Arg1972Gln)
c.5897G>A (p.Arg1966Gln)
c.5891G>A (p.Arg1964Gln)
c.5888G>A (p.Arg1963Gln)
c.5864G>A (p.Arg1955Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686214G>CCA383382642CACNA1C,CACNA1C-AS1c.5804G>C (p.Arg1935Pro)
c.5834G>C (p.Arg1945Pro)
c.5909G>C (p.Arg1970Pro)
c.5942G>C (p.Arg1981Pro)
c.5771G>C (p.Arg1924Pro)
c.5819G>C (p.Arg1940Pro)
c.6068G>C (p.Arg2023Pro)
c.5696G>C (p.Arg1899Pro)
c.5729G>C (p.Arg1910Pro)
c.5720G>C (p.Arg1907Pro)
c.5894G>C (p.Arg1965Pro)
n.854G>C
n.2232G>C
n.859G>C
c.5873G>C (p.Arg1958Pro)
c.5852G>C (p.Arg1951Pro)
c.5753G>C (p.Arg1918Pro)
c.5789G>C (p.Arg1930Pro)
c.5786G>C (p.Arg1929Pro)
c.5780G>C (p.Arg1927Pro)
c.5813G>C (p.Arg1938Pro)
c.5747G>C (p.Arg1916Pro)
c.5357G>C (p.Arg1786Pro)
c.5501G>C (p.Arg1834Pro)
c.5396G>C (p.Arg1799Pro)
c.1802G>C (p.Arg601Pro)
c.5432G>C (p.Arg1811Pro)
c.5978G>C (p.Arg1993Pro)
n.333+3926C>G
c.5348G>C (p.Arg1783Pro)
c.4793G>C (p.Arg1598Pro)
c.2903G>C (p.Arg968Pro)
c.6047G>C (p.Arg2016Pro)
c.6551G>C (p.Arg2184Pro)
c.6446G>C (p.Arg2149Pro)
c.6233G>C (p.Arg2078Pro)
c.6176G>C (p.Arg2059Pro)
c.6092G>C (p.Arg2031Pro)
c.6077G>C (p.Arg2026Pro)
c.5981G>C (p.Arg1994Pro)
c.5972G>C (p.Arg1991Pro)
c.5954G>C (p.Arg1985Pro)
c.5948G>C (p.Arg1983Pro)
c.5921G>C (p.Arg1974Pro)
c.5915G>C (p.Arg1972Pro)
c.5897G>C (p.Arg1966Pro)
c.5891G>C (p.Arg1964Pro)
c.5888G>C (p.Arg1963Pro)
c.5864G>C (p.Arg1955Pro)
12g.2686214G=CA2012350972CACNA1C,CACNA1C-AS1c.5804G= (p.Arg1935=)
c.5834G= (p.Arg1945=)
c.5909G= (p.Arg1970=)
c.5942G= (p.Arg1981=)
c.5771G= (p.Arg1924=)
c.5819G= (p.Arg1940=)
c.6068G= (p.Arg2023=)
c.5696G= (p.Arg1899=)
c.5729G= (p.Arg1910=)
c.5720G= (p.Arg1907=)
c.5894G= (p.Arg1965=)
n.854G=
n.2232G=
n.859G=
c.5873G= (p.Arg1958=)
c.5852G= (p.Arg1951=)
c.5753G= (p.Arg1918=)
c.5789G= (p.Arg1930=)
c.5786G= (p.Arg1929=)
c.5780G= (p.Arg1927=)
c.5813G= (p.Arg1938=)
c.5747G= (p.Arg1916=)
c.5357G= (p.Arg1786=)
c.5501G= (p.Arg1834=)
c.5396G= (p.Arg1799=)
c.1802G= (p.Arg601=)
c.5432G= (p.Arg1811=)
c.5978G= (p.Arg1993=)
n.333+3926C=
c.5348G= (p.Arg1783=)
c.4793G= (p.Arg1598=)
c.2903G= (p.Arg968=)
c.6047G= (p.Arg2016=)
c.6551G= (p.Arg2184=)
c.6446G= (p.Arg2149=)
c.6233G= (p.Arg2078=)
c.6176G= (p.Arg2059=)
c.6092G= (p.Arg2031=)
c.6077G= (p.Arg2026=)
c.5981G= (p.Arg1994=)
c.5972G= (p.Arg1991=)
c.5954G= (p.Arg1985=)
c.5948G= (p.Arg1983=)
c.5921G= (p.Arg1974=)
c.5915G= (p.Arg1972=)
c.5897G= (p.Arg1966=)
c.5891G= (p.Arg1964=)
c.5888G= (p.Arg1963=)
c.5864G= (p.Arg1955=)
12g.2686214G>TCA383382640CACNA1C,CACNA1C-AS1c.5804G>T (p.Arg1935Leu)
c.5834G>T (p.Arg1945Leu)
c.5909G>T (p.Arg1970Leu)
c.5942G>T (p.Arg1981Leu)
c.5771G>T (p.Arg1924Leu)
c.5819G>T (p.Arg1940Leu)
c.6068G>T (p.Arg2023Leu)
c.5696G>T (p.Arg1899Leu)
c.5729G>T (p.Arg1910Leu)
c.5720G>T (p.Arg1907Leu)
c.5894G>T (p.Arg1965Leu)
n.854G>T
n.2232G>T
n.859G>T
c.5873G>T (p.Arg1958Leu)
c.5852G>T (p.Arg1951Leu)
c.5753G>T (p.Arg1918Leu)
c.5789G>T (p.Arg1930Leu)
c.5786G>T (p.Arg1929Leu)
c.5780G>T (p.Arg1927Leu)
c.5813G>T (p.Arg1938Leu)
c.5747G>T (p.Arg1916Leu)
c.5357G>T (p.Arg1786Leu)
c.5501G>T (p.Arg1834Leu)
c.5396G>T (p.Arg1799Leu)
c.1802G>T (p.Arg601Leu)
c.5432G>T (p.Arg1811Leu)
c.5978G>T (p.Arg1993Leu)
n.333+3926C>A
c.5348G>T (p.Arg1783Leu)
c.4793G>T (p.Arg1598Leu)
c.2903G>T (p.Arg968Leu)
c.6047G>T (p.Arg2016Leu)
c.6551G>T (p.Arg2184Leu)
c.6446G>T (p.Arg2149Leu)
c.6233G>T (p.Arg2078Leu)
c.6176G>T (p.Arg2059Leu)
c.6092G>T (p.Arg2031Leu)
c.6077G>T (p.Arg2026Leu)
c.5981G>T (p.Arg1994Leu)
c.5972G>T (p.Arg1991Leu)
c.5954G>T (p.Arg1985Leu)
c.5948G>T (p.Arg1983Leu)
c.5921G>T (p.Arg1974Leu)
c.5915G>T (p.Arg1972Leu)
c.5897G>T (p.Arg1966Leu)
c.5891G>T (p.Arg1964Leu)
c.5888G>T (p.Arg1963Leu)
c.5864G>T (p.Arg1955Leu)
12g.2686215A>CCA477902594CACNA1C,CACNA1C-AS1c.5805A>C (p.Arg1935=)
c.5835A>C (p.Arg1945=)
c.5910A>C (p.Arg1970=)
c.5943A>C (p.Arg1981=)
c.5772A>C (p.Arg1924=)
c.5820A>C (p.Arg1940=)
c.6069A>C (p.Arg2023=)
c.5697A>C (p.Arg1899=)
c.5730A>C (p.Arg1910=)
c.5721A>C (p.Arg1907=)
c.5895A>C (p.Arg1965=)
n.855A>C
n.2233A>C
n.860A>C
c.5874A>C (p.Arg1958=)
c.5853A>C (p.Arg1951=)
c.5754A>C (p.Arg1918=)
c.5790A>C (p.Arg1930=)
c.5787A>C (p.Arg1929=)
c.5781A>C (p.Arg1927=)
c.5814A>C (p.Arg1938=)
c.5748A>C (p.Arg1916=)
c.5358A>C (p.Arg1786=)
c.5502A>C (p.Arg1834=)
c.5397A>C (p.Arg1799=)
c.1803A>C (p.Arg601=)
c.5433A>C (p.Arg1811=)
c.5979A>C (p.Arg1993=)
n.333+3925T>G
c.5349A>C (p.Arg1783=)
c.4794A>C (p.Arg1598=)
c.2904A>C (p.Arg968=)
c.6048A>C (p.Arg2016=)
c.6552A>C (p.Arg2184=)
c.6447A>C (p.Arg2149=)
c.6234A>C (p.Arg2078=)
c.6177A>C (p.Arg2059=)
c.6093A>C (p.Arg2031=)
c.6078A>C (p.Arg2026=)
c.5982A>C (p.Arg1994=)
c.5973A>C (p.Arg1991=)
c.5955A>C (p.Arg1985=)
c.5949A>C (p.Arg1983=)
c.5922A>C (p.Arg1974=)
c.5916A>C (p.Arg1972=)
c.5898A>C (p.Arg1966=)
c.5892A>C (p.Arg1964=)
c.5889A>C (p.Arg1963=)
c.5865A>C (p.Arg1955=)
12g.2686215A>GCA477902591CACNA1C,CACNA1C-AS1c.5805A>G (p.Arg1935=)
c.5835A>G (p.Arg1945=)
c.5910A>G (p.Arg1970=)
c.5943A>G (p.Arg1981=)
c.5772A>G (p.Arg1924=)
c.5820A>G (p.Arg1940=)
c.6069A>G (p.Arg2023=)
c.5697A>G (p.Arg1899=)
c.5730A>G (p.Arg1910=)
c.5721A>G (p.Arg1907=)
c.5895A>G (p.Arg1965=)
n.855A>G
n.2233A>G
n.860A>G
c.5874A>G (p.Arg1958=)
c.5853A>G (p.Arg1951=)
c.5754A>G (p.Arg1918=)
c.5790A>G (p.Arg1930=)
c.5787A>G (p.Arg1929=)
c.5781A>G (p.Arg1927=)
c.5814A>G (p.Arg1938=)
c.5748A>G (p.Arg1916=)
c.5358A>G (p.Arg1786=)
c.5502A>G (p.Arg1834=)
c.5397A>G (p.Arg1799=)
c.1803A>G (p.Arg601=)
c.5433A>G (p.Arg1811=)
c.5979A>G (p.Arg1993=)
n.333+3925T>C
c.5349A>G (p.Arg1783=)
c.4794A>G (p.Arg1598=)
c.2904A>G (p.Arg968=)
c.6048A>G (p.Arg2016=)
c.6552A>G (p.Arg2184=)
c.6447A>G (p.Arg2149=)
c.6234A>G (p.Arg2078=)
c.6177A>G (p.Arg2059=)
c.6093A>G (p.Arg2031=)
c.6078A>G (p.Arg2026=)
c.5982A>G (p.Arg1994=)
c.5973A>G (p.Arg1991=)
c.5955A>G (p.Arg1985=)
c.5949A>G (p.Arg1983=)
c.5922A>G (p.Arg1974=)
c.5916A>G (p.Arg1972=)
c.5898A>G (p.Arg1966=)
c.5892A>G (p.Arg1964=)
c.5889A>G (p.Arg1963=)
c.5865A>G (p.Arg1955=)
12g.2686215A>TCA477902595CACNA1C,CACNA1C-AS1c.5805A>T (p.Arg1935=)
c.5835A>T (p.Arg1945=)
c.5910A>T (p.Arg1970=)
c.5943A>T (p.Arg1981=)
c.5772A>T (p.Arg1924=)
c.5820A>T (p.Arg1940=)
c.6069A>T (p.Arg2023=)
c.5697A>T (p.Arg1899=)
c.5730A>T (p.Arg1910=)
c.5721A>T (p.Arg1907=)
c.5895A>T (p.Arg1965=)
n.855A>T
n.2233A>T
n.860A>T
c.5874A>T (p.Arg1958=)
c.5853A>T (p.Arg1951=)
c.5754A>T (p.Arg1918=)
c.5790A>T (p.Arg1930=)
c.5787A>T (p.Arg1929=)
c.5781A>T (p.Arg1927=)
c.5814A>T (p.Arg1938=)
c.5748A>T (p.Arg1916=)
c.5358A>T (p.Arg1786=)
c.5502A>T (p.Arg1834=)
c.5397A>T (p.Arg1799=)
c.1803A>T (p.Arg601=)
c.5433A>T (p.Arg1811=)
c.5979A>T (p.Arg1993=)
n.333+3925T>A
c.5349A>T (p.Arg1783=)
c.4794A>T (p.Arg1598=)
c.2904A>T (p.Arg968=)
c.6048A>T (p.Arg2016=)
c.6552A>T (p.Arg2184=)
c.6447A>T (p.Arg2149=)
c.6234A>T (p.Arg2078=)
c.6177A>T (p.Arg2059=)
c.6093A>T (p.Arg2031=)
c.6078A>T (p.Arg2026=)
c.5982A>T (p.Arg1994=)
c.5973A>T (p.Arg1991=)
c.5955A>T (p.Arg1985=)
c.5949A>T (p.Arg1983=)
c.5922A>T (p.Arg1974=)
c.5916A>T (p.Arg1972=)
c.5898A>T (p.Arg1966=)
c.5892A>T (p.Arg1964=)
c.5889A>T (p.Arg1963=)
c.5865A>T (p.Arg1955=)
12g.2686216G>ACA383382645CACNA1C,CACNA1C-AS1c.5806G>A (p.Gly1936Arg)
c.5836G>A (p.Gly1946Arg)
c.5911G>A (p.Gly1971Arg)
c.5944G>A (p.Gly1982Arg)
c.5773G>A (p.Gly1925Arg)
c.5821G>A (p.Gly1941Arg)
c.6070G>A (p.Gly2024Arg)
c.5698G>A (p.Gly1900Arg)
c.5731G>A (p.Gly1911Arg)
c.5722G>A (p.Gly1908Arg)
c.5896G>A (p.Gly1966Arg)
n.856G>A
n.2234G>A
n.861G>A
c.5875G>A (p.Gly1959Arg)
c.5854G>A (p.Gly1952Arg)
c.5755G>A (p.Gly1919Arg)
c.5791G>A (p.Gly1931Arg)
c.5788G>A (p.Gly1930Arg)
c.5782G>A (p.Gly1928Arg)
c.5815G>A (p.Gly1939Arg)
c.5749G>A (p.Gly1917Arg)
c.5359G>A (p.Gly1787Arg)
c.5503G>A (p.Gly1835Arg)
c.5398G>A (p.Gly1800Arg)
c.1804G>A (p.Gly602Arg)
c.5434G>A (p.Gly1812Arg)
c.5980G>A (p.Gly1994Arg)
n.333+3924C>T
c.5350G>A (p.Gly1784Arg)
c.4795G>A (p.Gly1599Arg)
c.2905G>A (p.Gly969Arg)
c.6049G>A (p.Gly2017Arg)
c.6553G>A (p.Gly2185Arg)
c.6448G>A (p.Gly2150Arg)
c.6235G>A (p.Gly2079Arg)
c.6178G>A (p.Gly2060Arg)
c.6094G>A (p.Gly2032Arg)
c.6079G>A (p.Gly2027Arg)
c.5983G>A (p.Gly1995Arg)
c.5974G>A (p.Gly1992Arg)
c.5956G>A (p.Gly1986Arg)
c.5950G>A (p.Gly1984Arg)
c.5923G>A (p.Gly1975Arg)
c.5917G>A (p.Gly1973Arg)
c.5899G>A (p.Gly1967Arg)
c.5893G>A (p.Gly1965Arg)
c.5890G>A (p.Gly1964Arg)
c.5866G>A (p.Gly1956Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.2686216G>CCA236625CACNA1C,CACNA1C-AS1c.5806G>C (p.Gly1936Arg)
c.5836G>C (p.Gly1946Arg)
c.5911G>C (p.Gly1971Arg)
c.5944G>C (p.Gly1982Arg)
c.5773G>C (p.Gly1925Arg)
c.5821G>C (p.Gly1941Arg)
c.6070G>C (p.Gly2024Arg)
c.5698G>C (p.Gly1900Arg)
c.5731G>C (p.Gly1911Arg)
c.5722G>C (p.Gly1908Arg)
c.5896G>C (p.Gly1966Arg)
n.856G>C
n.2234G>C
n.861G>C
c.5875G>C (p.Gly1959Arg)
c.5854G>C (p.Gly1952Arg)
c.5755G>C (p.Gly1919Arg)
c.5791G>C (p.Gly1931Arg)
c.5788G>C (p.Gly1930Arg)
c.5782G>C (p.Gly1928Arg)
c.5815G>C (p.Gly1939Arg)
c.5749G>C (p.Gly1917Arg)
c.5359G>C (p.Gly1787Arg)
c.5503G>C (p.Gly1835Arg)
c.5398G>C (p.Gly1800Arg)
c.1804G>C (p.Gly602Arg)
c.5434G>C (p.Gly1812Arg)
c.5980G>C (p.Gly1994Arg)
n.333+3924C>G
c.5350G>C (p.Gly1784Arg)
c.4795G>C (p.Gly1599Arg)
c.2905G>C (p.Gly969Arg)
c.6049G>C (p.Gly2017Arg)
c.6553G>C (p.Gly2185Arg)
c.6448G>C (p.Gly2150Arg)
c.6235G>C (p.Gly2079Arg)
c.6178G>C (p.Gly2060Arg)
c.6094G>C (p.Gly2032Arg)
c.6079G>C (p.Gly2027Arg)
c.5983G>C (p.Gly1995Arg)
c.5974G>C (p.Gly1992Arg)
c.5956G>C (p.Gly1986Arg)
c.5950G>C (p.Gly1984Arg)
c.5923G>C (p.Gly1975Arg)
c.5917G>C (p.Gly1973Arg)
c.5899G>C (p.Gly1967Arg)
c.5893G>C (p.Gly1965Arg)
c.5890G>C (p.Gly1964Arg)
c.5866G>C (p.Gly1956Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686216G=CA2012350973CACNA1C,CACNA1C-AS1c.5806G= (p.Gly1936=)
c.5836G= (p.Gly1946=)
c.5911G= (p.Gly1971=)
c.5944G= (p.Gly1982=)
c.5773G= (p.Gly1925=)
c.5821G= (p.Gly1941=)
c.6070G= (p.Gly2024=)
c.5698G= (p.Gly1900=)
c.5731G= (p.Gly1911=)
c.5722G= (p.Gly1908=)
c.5896G= (p.Gly1966=)
n.856G=
n.2234G=
n.861G=
c.5875G= (p.Gly1959=)
c.5854G= (p.Gly1952=)
c.5755G= (p.Gly1919=)
c.5791G= (p.Gly1931=)
c.5788G= (p.Gly1930=)
c.5782G= (p.Gly1928=)
c.5815G= (p.Gly1939=)
c.5749G= (p.Gly1917=)
c.5359G= (p.Gly1787=)
c.5503G= (p.Gly1835=)
c.5398G= (p.Gly1800=)
c.1804G= (p.Gly602=)
c.5434G= (p.Gly1812=)
c.5980G= (p.Gly1994=)
n.333+3924C=
c.5350G= (p.Gly1784=)
c.4795G= (p.Gly1599=)
c.2905G= (p.Gly969=)
c.6049G= (p.Gly2017=)
c.6553G= (p.Gly2185=)
c.6448G= (p.Gly2150=)
c.6235G= (p.Gly2079=)
c.6178G= (p.Gly2060=)
c.6094G= (p.Gly2032=)
c.6079G= (p.Gly2027=)
c.5983G= (p.Gly1995=)
c.5974G= (p.Gly1992=)
c.5956G= (p.Gly1986=)
c.5950G= (p.Gly1984=)
c.5923G= (p.Gly1975=)
c.5917G= (p.Gly1973=)
c.5899G= (p.Gly1967=)
c.5893G= (p.Gly1965=)
c.5890G= (p.Gly1964=)
c.5866G= (p.Gly1956=)
12g.2686216G>TCA383382646CACNA1C,CACNA1C-AS1c.5806G>T (p.Gly1936Trp)
c.5836G>T (p.Gly1946Trp)
c.5911G>T (p.Gly1971Trp)
c.5944G>T (p.Gly1982Trp)
c.5773G>T (p.Gly1925Trp)
c.5821G>T (p.Gly1941Trp)
c.6070G>T (p.Gly2024Trp)
c.5698G>T (p.Gly1900Trp)
c.5731G>T (p.Gly1911Trp)
c.5722G>T (p.Gly1908Trp)
c.5896G>T (p.Gly1966Trp)
n.856G>T
n.2234G>T
n.861G>T
c.5875G>T (p.Gly1959Trp)
c.5854G>T (p.Gly1952Trp)
c.5755G>T (p.Gly1919Trp)
c.5791G>T (p.Gly1931Trp)
c.5788G>T (p.Gly1930Trp)
c.5782G>T (p.Gly1928Trp)
c.5815G>T (p.Gly1939Trp)
c.5749G>T (p.Gly1917Trp)
c.5359G>T (p.Gly1787Trp)
c.5503G>T (p.Gly1835Trp)
c.5398G>T (p.Gly1800Trp)
c.1804G>T (p.Gly602Trp)
c.5434G>T (p.Gly1812Trp)
c.5980G>T (p.Gly1994Trp)
n.333+3924C>A
c.5350G>T (p.Gly1784Trp)
c.4795G>T (p.Gly1599Trp)
c.2905G>T (p.Gly969Trp)
c.6049G>T (p.Gly2017Trp)
c.6553G>T (p.Gly2185Trp)
c.6448G>T (p.Gly2150Trp)
c.6235G>T (p.Gly2079Trp)
c.6178G>T (p.Gly2060Trp)
c.6094G>T (p.Gly2032Trp)
c.6079G>T (p.Gly2027Trp)
c.5983G>T (p.Gly1995Trp)
c.5974G>T (p.Gly1992Trp)
c.5956G>T (p.Gly1986Trp)
c.5950G>T (p.Gly1984Trp)
c.5923G>T (p.Gly1975Trp)
c.5917G>T (p.Gly1973Trp)
c.5899G>T (p.Gly1967Trp)
c.5893G>T (p.Gly1965Trp)
c.5890G>T (p.Gly1964Trp)
c.5866G>T (p.Gly1956Trp)
12g.2686217G>ACA6389958CACNA1C,CACNA1C-AS1c.5807G>A (p.Gly1936Glu)
c.5837G>A (p.Gly1946Glu)
c.5912G>A (p.Gly1971Glu)
c.5945G>A (p.Gly1982Glu)
c.5774G>A (p.Gly1925Glu)
c.5822G>A (p.Gly1941Glu)
c.6071G>A (p.Gly2024Glu)
c.5699G>A (p.Gly1900Glu)
c.5732G>A (p.Gly1911Glu)
c.5723G>A (p.Gly1908Glu)
c.5897G>A (p.Gly1966Glu)
n.857G>A
n.2235G>A
n.862G>A
c.5876G>A (p.Gly1959Glu)
c.5855G>A (p.Gly1952Glu)
c.5756G>A (p.Gly1919Glu)
c.5792G>A (p.Gly1931Glu)
c.5789G>A (p.Gly1930Glu)
c.5783G>A (p.Gly1928Glu)
c.5816G>A (p.Gly1939Glu)
c.5750G>A (p.Gly1917Glu)
c.5360G>A (p.Gly1787Glu)
c.5504G>A (p.Gly1835Glu)
c.5399G>A (p.Gly1800Glu)
c.1805G>A (p.Gly602Glu)
c.5435G>A (p.Gly1812Glu)
c.5981G>A (p.Gly1994Glu)
n.333+3923C>T
c.5351G>A (p.Gly1784Glu)
c.4796G>A (p.Gly1599Glu)
c.2906G>A (p.Gly969Glu)
c.6050G>A (p.Gly2017Glu)
c.6554G>A (p.Gly2185Glu)
c.6449G>A (p.Gly2150Glu)
c.6236G>A (p.Gly2079Glu)
c.6179G>A (p.Gly2060Glu)
c.6095G>A (p.Gly2032Glu)
c.6080G>A (p.Gly2027Glu)
c.5984G>A (p.Gly1995Glu)
c.5975G>A (p.Gly1992Glu)
c.5957G>A (p.Gly1986Glu)
c.5951G>A (p.Gly1984Glu)
c.5924G>A (p.Gly1975Glu)
c.5918G>A (p.Gly1973Glu)
c.5900G>A (p.Gly1967Glu)
c.5894G>A (p.Gly1965Glu)
c.5891G>A (p.Gly1964Glu)
c.5867G>A (p.Gly1956Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.2686217G>CCA383382649CACNA1C,CACNA1C-AS1c.5807G>C (p.Gly1936Ala)
c.5837G>C (p.Gly1946Ala)
c.5912G>C (p.Gly1971Ala)
c.5945G>C (p.Gly1982Ala)
c.5774G>C (p.Gly1925Ala)
c.5822G>C (p.Gly1941Ala)
c.6071G>C (p.Gly2024Ala)
c.5699G>C (p.Gly1900Ala)
c.5732G>C (p.Gly1911Ala)
c.5723G>C (p.Gly1908Ala)
c.5897G>C (p.Gly1966Ala)
n.857G>C
n.2235G>C
n.862G>C
c.5876G>C (p.Gly1959Ala)
c.5855G>C (p.Gly1952Ala)
c.5756G>C (p.Gly1919Ala)
c.5792G>C (p.Gly1931Ala)
c.5789G>C (p.Gly1930Ala)
c.5783G>C (p.Gly1928Ala)
c.5816G>C (p.Gly1939Ala)
c.5750G>C (p.Gly1917Ala)
c.5360G>C (p.Gly1787Ala)
c.5504G>C (p.Gly1835Ala)
c.5399G>C (p.Gly1800Ala)
c.1805G>C (p.Gly602Ala)
c.5435G>C (p.Gly1812Ala)
c.5981G>C (p.Gly1994Ala)
n.333+3923C>G
c.5351G>C (p.Gly1784Ala)
c.4796G>C (p.Gly1599Ala)
c.2906G>C (p.Gly969Ala)
c.6050G>C (p.Gly2017Ala)
c.6554G>C (p.Gly2185Ala)
c.6449G>C (p.Gly2150Ala)
c.6236G>C (p.Gly2079Ala)
c.6179G>C (p.Gly2060Ala)
c.6095G>C (p.Gly2032Ala)
c.6080G>C (p.Gly2027Ala)
c.5984G>C (p.Gly1995Ala)
c.5975G>C (p.Gly1992Ala)
c.5957G>C (p.Gly1986Ala)
c.5951G>C (p.Gly1984Ala)
c.5924G>C (p.Gly1975Ala)
c.5918G>C (p.Gly1973Ala)
c.5900G>C (p.Gly1967Ala)
c.5894G>C (p.Gly1965Ala)
c.5891G>C (p.Gly1964Ala)
c.5867G>C (p.Gly1956Ala)
12g.2686217G=CA2012350974CACNA1C,CACNA1C-AS1c.5807G= (p.Gly1936=)
c.5837G= (p.Gly1946=)
c.5912G= (p.Gly1971=)
c.5945G= (p.Gly1982=)
c.5774G= (p.Gly1925=)
c.5822G= (p.Gly1941=)
c.6071G= (p.Gly2024=)
c.5699G= (p.Gly1900=)
c.5732G= (p.Gly1911=)
c.5723G= (p.Gly1908=)
c.5897G= (p.Gly1966=)
n.857G=
n.2235G=
n.862G=
c.5876G= (p.Gly1959=)
c.5855G= (p.Gly1952=)
c.5756G= (p.Gly1919=)
c.5792G= (p.Gly1931=)
c.5789G= (p.Gly1930=)
c.5783G= (p.Gly1928=)
c.5816G= (p.Gly1939=)
c.5750G= (p.Gly1917=)
c.5360G= (p.Gly1787=)
c.5504G= (p.Gly1835=)
c.5399G= (p.Gly1800=)
c.1805G= (p.Gly602=)
c.5435G= (p.Gly1812=)
c.5981G= (p.Gly1994=)
n.333+3923C=
c.5351G= (p.Gly1784=)
c.4796G= (p.Gly1599=)
c.2906G= (p.Gly969=)
c.6050G= (p.Gly2017=)
c.6554G= (p.Gly2185=)
c.6449G= (p.Gly2150=)
c.6236G= (p.Gly2079=)
c.6179G= (p.Gly2060=)
c.6095G= (p.Gly2032=)
c.6080G= (p.Gly2027=)
c.5984G= (p.Gly1995=)
c.5975G= (p.Gly1992=)
c.5957G= (p.Gly1986=)
c.5951G= (p.Gly1984=)
c.5924G= (p.Gly1975=)
c.5918G= (p.Gly1973=)
c.5900G= (p.Gly1967=)
c.5894G= (p.Gly1965=)
c.5891G= (p.Gly1964=)
c.5867G= (p.Gly1956=)
12g.2686217G>TCA383382648CACNA1C,CACNA1C-AS1c.5807G>T (p.Gly1936Val)
c.5837G>T (p.Gly1946Val)
c.5912G>T (p.Gly1971Val)
c.5945G>T (p.Gly1982Val)
c.5774G>T (p.Gly1925Val)
c.5822G>T (p.Gly1941Val)
c.6071G>T (p.Gly2024Val)
c.5699G>T (p.Gly1900Val)
c.5732G>T (p.Gly1911Val)
c.5723G>T (p.Gly1908Val)
c.5897G>T (p.Gly1966Val)
n.857G>T
n.2235G>T
n.862G>T
c.5876G>T (p.Gly1959Val)
c.5855G>T (p.Gly1952Val)
c.5756G>T (p.Gly1919Val)
c.5792G>T (p.Gly1931Val)
c.5789G>T (p.Gly1930Val)
c.5783G>T (p.Gly1928Val)
c.5816G>T (p.Gly1939Val)
c.5750G>T (p.Gly1917Val)
c.5360G>T (p.Gly1787Val)
c.5504G>T (p.Gly1835Val)
c.5399G>T (p.Gly1800Val)
c.1805G>T (p.Gly602Val)
c.5435G>T (p.Gly1812Val)
c.5981G>T (p.Gly1994Val)
n.333+3923C>A
c.5351G>T (p.Gly1784Val)
c.4796G>T (p.Gly1599Val)
c.2906G>T (p.Gly969Val)
c.6050G>T (p.Gly2017Val)
c.6554G>T (p.Gly2185Val)
c.6449G>T (p.Gly2150Val)
c.6236G>T (p.Gly2079Val)
c.6179G>T (p.Gly2060Val)
c.6095G>T (p.Gly2032Val)
c.6080G>T (p.Gly2027Val)
c.5984G>T (p.Gly1995Val)
c.5975G>T (p.Gly1992Val)
c.5957G>T (p.Gly1986Val)
c.5951G>T (p.Gly1984Val)
c.5924G>T (p.Gly1975Val)
c.5918G>T (p.Gly1973Val)
c.5900G>T (p.Gly1967Val)
c.5894G>T (p.Gly1965Val)
c.5891G>T (p.Gly1964Val)
c.5867G>T (p.Gly1956Val)
12g.2686218G>ACA6389959CACNA1C,CACNA1C-AS1c.5808G>A (p.Gly1936=)
c.5838G>A (p.Gly1946=)
c.5913G>A (p.Gly1971=)
c.5946G>A (p.Gly1982=)
c.5775G>A (p.Gly1925=)
c.5823G>A (p.Gly1941=)
c.6072G>A (p.Gly2024=)
c.5700G>A (p.Gly1900=)
c.5733G>A (p.Gly1911=)
c.5724G>A (p.Gly1908=)
c.5898G>A (p.Gly1966=)
n.858G>A
n.2236G>A
n.863G>A
c.5877G>A (p.Gly1959=)
c.5856G>A (p.Gly1952=)
c.5757G>A (p.Gly1919=)
c.5793G>A (p.Gly1931=)
c.5790G>A (p.Gly1930=)
c.5784G>A (p.Gly1928=)
c.5817G>A (p.Gly1939=)
c.5751G>A (p.Gly1917=)
c.5361G>A (p.Gly1787=)
c.5505G>A (p.Gly1835=)
c.5400G>A (p.Gly1800=)
c.1806G>A (p.Gly602=)
c.5436G>A (p.Gly1812=)
c.5982G>A (p.Gly1994=)
n.333+3922C>T
c.5352G>A (p.Gly1784=)
c.4797G>A (p.Gly1599=)
c.2907G>A (p.Gly969=)
c.6051G>A (p.Gly2017=)
c.6555G>A (p.Gly2185=)
c.6450G>A (p.Gly2150=)
c.6237G>A (p.Gly2079=)
c.6180G>A (p.Gly2060=)
c.6096G>A (p.Gly2032=)
c.6081G>A (p.Gly2027=)
c.5985G>A (p.Gly1995=)
c.5976G>A (p.Gly1992=)
c.5958G>A (p.Gly1986=)
c.5952G>A (p.Gly1984=)
c.5925G>A (p.Gly1975=)
c.5919G>A (p.Gly1973=)
c.5901G>A (p.Gly1967=)
c.5895G>A (p.Gly1965=)
c.5892G>A (p.Gly1964=)
c.5868G>A (p.Gly1956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.2686218G>CCA477902619CACNA1C,CACNA1C-AS1c.5808G>C (p.Gly1936=)
c.5838G>C (p.Gly1946=)
c.5913G>C (p.Gly1971=)
c.5946G>C (p.Gly1982=)
c.5775G>C (p.Gly1925=)
c.5823G>C (p.Gly1941=)
c.6072G>C (p.Gly2024=)
c.5700G>C (p.Gly1900=)
c.5733G>C (p.Gly1911=)
c.5724G>C (p.Gly1908=)
c.5898G>C (p.Gly1966=)
n.858G>C
n.2236G>C
n.863G>C
c.5877G>C (p.Gly1959=)
c.5856G>C (p.Gly1952=)
c.5757G>C (p.Gly1919=)
c.5793G>C (p.Gly1931=)
c.5790G>C (p.Gly1930=)
c.5784G>C (p.Gly1928=)
c.5817G>C (p.Gly1939=)
c.5751G>C (p.Gly1917=)
c.5361G>C (p.Gly1787=)
c.5505G>C (p.Gly1835=)
c.5400G>C (p.Gly1800=)
c.1806G>C (p.Gly602=)
c.5436G>C (p.Gly1812=)
c.5982G>C (p.Gly1994=)
n.333+3922C>G
c.5352G>C (p.Gly1784=)
c.4797G>C (p.Gly1599=)
c.2907G>C (p.Gly969=)
c.6051G>C (p.Gly2017=)
c.6555G>C (p.Gly2185=)
c.6450G>C (p.Gly2150=)
c.6237G>C (p.Gly2079=)
c.6180G>C (p.Gly2060=)
c.6096G>C (p.Gly2032=)
c.6081G>C (p.Gly2027=)
c.5985G>C (p.Gly1995=)
c.5976G>C (p.Gly1992=)
c.5958G>C (p.Gly1986=)
c.5952G>C (p.Gly1984=)
c.5925G>C (p.Gly1975=)
c.5919G>C (p.Gly1973=)
c.5901G>C (p.Gly1967=)
c.5895G>C (p.Gly1965=)
c.5892G>C (p.Gly1964=)
c.5868G>C (p.Gly1956=)
12g.2686218G=CA2012350975CACNA1C,CACNA1C-AS1c.5808G= (p.Gly1936=)
c.5838G= (p.Gly1946=)
c.5913G= (p.Gly1971=)
c.5946G= (p.Gly1982=)
c.5775G= (p.Gly1925=)
c.5823G= (p.Gly1941=)
c.6072G= (p.Gly2024=)
c.5700G= (p.Gly1900=)
c.5733G= (p.Gly1911=)
c.5724G= (p.Gly1908=)
c.5898G= (p.Gly1966=)
n.858G=
n.2236G=
n.863G=
c.5877G= (p.Gly1959=)
c.5856G= (p.Gly1952=)
c.5757G= (p.Gly1919=)
c.5793G= (p.Gly1931=)
c.5790G= (p.Gly1930=)
c.5784G= (p.Gly1928=)
c.5817G= (p.Gly1939=)
c.5751G= (p.Gly1917=)
c.5361G= (p.Gly1787=)
c.5505G= (p.Gly1835=)
c.5400G= (p.Gly1800=)
c.1806G= (p.Gly602=)
c.5436G= (p.Gly1812=)
c.5982G= (p.Gly1994=)
n.333+3922C=
c.5352G= (p.Gly1784=)
c.4797G= (p.Gly1599=)
c.2907G= (p.Gly969=)
c.6051G= (p.Gly2017=)
c.6555G= (p.Gly2185=)
c.6450G= (p.Gly2150=)
c.6237G= (p.Gly2079=)
c.6180G= (p.Gly2060=)
c.6096G= (p.Gly2032=)
c.6081G= (p.Gly2027=)
c.5985G= (p.Gly1995=)
c.5976G= (p.Gly1992=)
c.5958G= (p.Gly1986=)
c.5952G= (p.Gly1984=)
c.5925G= (p.Gly1975=)
c.5919G= (p.Gly1973=)
c.5901G= (p.Gly1967=)
c.5895G= (p.Gly1965=)
c.5892G= (p.Gly1964=)
c.5868G= (p.Gly1956=)
12g.2686218G>TCA477902623CACNA1C,CACNA1C-AS1c.5808G>T (p.Gly1936=)
c.5838G>T (p.Gly1946=)
c.5913G>T (p.Gly1971=)
c.5946G>T (p.Gly1982=)
c.5775G>T (p.Gly1925=)
c.5823G>T (p.Gly1941=)
c.6072G>T (p.Gly2024=)
c.5700G>T (p.Gly1900=)
c.5733G>T (p.Gly1911=)
c.5724G>T (p.Gly1908=)
c.5898G>T (p.Gly1966=)
n.858G>T
n.2236G>T
n.863G>T
c.5877G>T (p.Gly1959=)
c.5856G>T (p.Gly1952=)
c.5757G>T (p.Gly1919=)
c.5793G>T (p.Gly1931=)
c.5790G>T (p.Gly1930=)
c.5784G>T (p.Gly1928=)
c.5817G>T (p.Gly1939=)
c.5751G>T (p.Gly1917=)
c.5361G>T (p.Gly1787=)
c.5505G>T (p.Gly1835=)
c.5400G>T (p.Gly1800=)
c.1806G>T (p.Gly602=)
c.5436G>T (p.Gly1812=)
c.5982G>T (p.Gly1994=)
n.333+3922C>A
c.5352G>T (p.Gly1784=)
c.4797G>T (p.Gly1599=)
c.2907G>T (p.Gly969=)
c.6051G>T (p.Gly2017=)
c.6555G>T (p.Gly2185=)
c.6450G>T (p.Gly2150=)
c.6237G>T (p.Gly2079=)
c.6180G>T (p.Gly2060=)
c.6096G>T (p.Gly2032=)
c.6081G>T (p.Gly2027=)
c.5985G>T (p.Gly1995=)
c.5976G>T (p.Gly1992=)
c.5958G>T (p.Gly1986=)
c.5952G>T (p.Gly1984=)
c.5925G>T (p.Gly1975=)
c.5919G>T (p.Gly1973=)
c.5901G>T (p.Gly1967=)
c.5895G>T (p.Gly1965=)
c.5892G>T (p.Gly1964=)
c.5868G>T (p.Gly1956=)
12g.2686219G>ACA383382652CACNA1C,CACNA1C-AS1c.5809G>A (p.Gly1937Arg)
c.5839G>A (p.Gly1947Arg)
c.5914G>A (p.Gly1972Arg)
c.5947G>A (p.Gly1983Arg)
c.5776G>A (p.Gly1926Arg)
c.5824G>A (p.Gly1942Arg)
c.6073G>A (p.Gly2025Arg)
c.5701G>A (p.Gly1901Arg)
c.5734G>A (p.Gly1912Arg)
c.5725G>A (p.Gly1909Arg)
c.5899G>A (p.Gly1967Arg)
n.859G>A
n.2237G>A
n.864G>A
c.5878G>A (p.Gly1960Arg)
c.5857G>A (p.Gly1953Arg)
c.5758G>A (p.Gly1920Arg)
c.5794G>A (p.Gly1932Arg)
c.5791G>A (p.Gly1931Arg)
c.5785G>A (p.Gly1929Arg)
c.5818G>A (p.Gly1940Arg)
c.5752G>A (p.Gly1918Arg)
c.5362G>A (p.Gly1788Arg)
c.5506G>A (p.Gly1836Arg)
c.5401G>A (p.Gly1801Arg)
c.1807G>A (p.Gly603Arg)
c.5437G>A (p.Gly1813Arg)
c.5983G>A (p.Gly1995Arg)
n.333+3921C>T
c.5353G>A (p.Gly1785Arg)
c.4798G>A (p.Gly1600Arg)
c.2908G>A (p.Gly970Arg)
c.6052G>A (p.Gly2018Arg)
c.6556G>A (p.Gly2186Arg)
c.6451G>A (p.Gly2151Arg)
c.6238G>A (p.Gly2080Arg)
c.6181G>A (p.Gly2061Arg)
c.6097G>A (p.Gly2033Arg)
c.6082G>A (p.Gly2028Arg)
c.5986G>A (p.Gly1996Arg)
c.5977G>A (p.Gly1993Arg)
c.5959G>A (p.Gly1987Arg)
c.5953G>A (p.Gly1985Arg)
c.5926G>A (p.Gly1976Arg)
c.5920G>A (p.Gly1974Arg)
c.5902G>A (p.Gly1968Arg)
c.5896G>A (p.Gly1966Arg)
c.5893G>A (p.Gly1965Arg)
c.5869G>A (p.Gly1957Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.2686219G>CCA383382654CACNA1C,CACNA1C-AS1c.5809G>C (p.Gly1937Arg)
c.5839G>C (p.Gly1947Arg)
c.5914G>C (p.Gly1972Arg)
c.5947G>C (p.Gly1983Arg)
c.5776G>C (p.Gly1926Arg)
c.5824G>C (p.Gly1942Arg)
c.6073G>C (p.Gly2025Arg)
c.5701G>C (p.Gly1901Arg)
c.5734G>C (p.Gly1912Arg)
c.5725G>C (p.Gly1909Arg)
c.5899G>C (p.Gly1967Arg)
n.859G>C
n.2237G>C
n.864G>C
c.5878G>C (p.Gly1960Arg)
c.5857G>C (p.Gly1953Arg)
c.5758G>C (p.Gly1920Arg)
c.5794G>C (p.Gly1932Arg)
c.5791G>C (p.Gly1931Arg)
c.5785G>C (p.Gly1929Arg)
c.5818G>C (p.Gly1940Arg)
c.5752G>C (p.Gly1918Arg)
c.5362G>C (p.Gly1788Arg)
c.5506G>C (p.Gly1836Arg)
c.5401G>C (p.Gly1801Arg)
c.1807G>C (p.Gly603Arg)
c.5437G>C (p.Gly1813Arg)
c.5983G>C (p.Gly1995Arg)
n.333+3921C>G
c.5353G>C (p.Gly1785Arg)
c.4798G>C (p.Gly1600Arg)
c.2908G>C (p.Gly970Arg)
c.6052G>C (p.Gly2018Arg)
c.6556G>C (p.Gly2186Arg)
c.6451G>C (p.Gly2151Arg)
c.6238G>C (p.Gly2080Arg)
c.6181G>C (p.Gly2061Arg)
c.6097G>C (p.Gly2033Arg)
c.6082G>C (p.Gly2028Arg)
c.5986G>C (p.Gly1996Arg)
c.5977G>C (p.Gly1993Arg)
c.5959G>C (p.Gly1987Arg)
c.5953G>C (p.Gly1985Arg)
c.5926G>C (p.Gly1976Arg)
c.5920G>C (p.Gly1974Arg)
c.5902G>C (p.Gly1968Arg)
c.5896G>C (p.Gly1966Arg)
c.5893G>C (p.Gly1965Arg)
c.5869G>C (p.Gly1957Arg)
12g.2686219G=CA2012350976CACNA1C,CACNA1C-AS1c.5809G= (p.Gly1937=)
c.5839G= (p.Gly1947=)
c.5914G= (p.Gly1972=)
c.5947G= (p.Gly1983=)
c.5776G= (p.Gly1926=)
c.5824G= (p.Gly1942=)
c.6073G= (p.Gly2025=)
c.5701G= (p.Gly1901=)
c.5734G= (p.Gly1912=)
c.5725G= (p.Gly1909=)
c.5899G= (p.Gly1967=)
n.859G=
n.2237G=
n.864G=
c.5878G= (p.Gly1960=)
c.5857G= (p.Gly1953=)
c.5758G= (p.Gly1920=)
c.5794G= (p.Gly1932=)
c.5791G= (p.Gly1931=)
c.5785G= (p.Gly1929=)
c.5818G= (p.Gly1940=)
c.5752G= (p.Gly1918=)
c.5362G= (p.Gly1788=)
c.5506G= (p.Gly1836=)
c.5401G= (p.Gly1801=)
c.1807G= (p.Gly603=)
c.5437G= (p.Gly1813=)
c.5983G= (p.Gly1995=)
n.333+3921C=
c.5353G= (p.Gly1785=)
c.4798G= (p.Gly1600=)
c.2908G= (p.Gly970=)
c.6052G= (p.Gly2018=)
c.6556G= (p.Gly2186=)
c.6451G= (p.Gly2151=)
c.6238G= (p.Gly2080=)
c.6181G= (p.Gly2061=)
c.6097G= (p.Gly2033=)
c.6082G= (p.Gly2028=)
c.5986G= (p.Gly1996=)
c.5977G= (p.Gly1993=)
c.5959G= (p.Gly1987=)
c.5953G= (p.Gly1985=)
c.5926G= (p.Gly1976=)
c.5920G= (p.Gly1974=)
c.5902G= (p.Gly1968=)
c.5896G= (p.Gly1966=)
c.5893G= (p.Gly1965=)
c.5869G= (p.Gly1957=)
12g.2686219G>TCA383382656CACNA1C,CACNA1C-AS1c.5809G>T (p.Gly1937Ter)
c.5839G>T (p.Gly1947Ter)
c.5914G>T (p.Gly1972Ter)
c.5947G>T (p.Gly1983Ter)
c.5776G>T (p.Gly1926Ter)
c.5824G>T (p.Gly1942Ter)
c.6073G>T (p.Gly2025Ter)
c.5701G>T (p.Gly1901Ter)
c.5734G>T (p.Gly1912Ter)
c.5725G>T (p.Gly1909Ter)
c.5899G>T (p.Gly1967Ter)
n.859G>T
n.2237G>T
n.864G>T
c.5878G>T (p.Gly1960Ter)
c.5857G>T (p.Gly1953Ter)
c.5758G>T (p.Gly1920Ter)
c.5794G>T (p.Gly1932Ter)
c.5791G>T (p.Gly1931Ter)
c.5785G>T (p.Gly1929Ter)
c.5818G>T (p.Gly1940Ter)
c.5752G>T (p.Gly1918Ter)
c.5362G>T (p.Gly1788Ter)
c.5506G>T (p.Gly1836Ter)
c.5401G>T (p.Gly1801Ter)
c.1807G>T (p.Gly603Ter)
c.5437G>T (p.Gly1813Ter)
c.5983G>T (p.Gly1995Ter)
n.333+3921C>A
c.5353G>T (p.Gly1785Ter)
c.4798G>T (p.Gly1600Ter)
c.2908G>T (p.Gly970Ter)
c.6052G>T (p.Gly2018Ter)
c.6556G>T (p.Gly2186Ter)
c.6451G>T (p.Gly2151Ter)
c.6238G>T (p.Gly2080Ter)
c.6181G>T (p.Gly2061Ter)
c.6097G>T (p.Gly2033Ter)
c.6082G>T (p.Gly2028Ter)
c.5986G>T (p.Gly1996Ter)
c.5977G>T (p.Gly1993Ter)
c.5959G>T (p.Gly1987Ter)
c.5953G>T (p.Gly1985Ter)
c.5926G>T (p.Gly1976Ter)
c.5920G>T (p.Gly1974Ter)
c.5902G>T (p.Gly1968Ter)
c.5896G>T (p.Gly1966Ter)
c.5893G>T (p.Gly1965Ter)
c.5869G>T (p.Gly1957Ter)
 dbSNP
12g.2686220G>ACA383382658CACNA1C,CACNA1C-AS1c.5810G>A (p.Gly1937Glu)
c.5840G>A (p.Gly1947Glu)
c.5915G>A (p.Gly1972Glu)
c.5948G>A (p.Gly1983Glu)
c.5777G>A (p.Gly1926Glu)
c.5825G>A (p.Gly1942Glu)
c.6074G>A (p.Gly2025Glu)
c.5702G>A (p.Gly1901Glu)
c.5735G>A (p.Gly1912Glu)
c.5726G>A (p.Gly1909Glu)
c.5900G>A (p.Gly1967Glu)
n.860G>A
n.2238G>A
n.865G>A
c.5879G>A (p.Gly1960Glu)
c.5858G>A (p.Gly1953Glu)
c.5759G>A (p.Gly1920Glu)
c.5795G>A (p.Gly1932Glu)
c.5792G>A (p.Gly1931Glu)
c.5786G>A (p.Gly1929Glu)
c.5819G>A (p.Gly1940Glu)
c.5753G>A (p.Gly1918Glu)
c.5363G>A (p.Gly1788Glu)
c.5507G>A (p.Gly1836Glu)
c.5402G>A (p.Gly1801Glu)
c.1808G>A (p.Gly603Glu)
c.5438G>A (p.Gly1813Glu)
c.5984G>A (p.Gly1995Glu)
n.333+3920C>T
c.5354G>A (p.Gly1785Glu)
c.4799G>A (p.Gly1600Glu)
c.2909G>A (p.Gly970Glu)
c.6053G>A (p.Gly2018Glu)
c.6557G>A (p.Gly2186Glu)
c.6452G>A (p.Gly2151Glu)
c.6239G>A (p.Gly2080Glu)
c.6182G>A (p.Gly2061Glu)
c.6098G>A (p.Gly2033Glu)
c.6083G>A (p.Gly2028Glu)
c.5987G>A (p.Gly1996Glu)
c.5978G>A (p.Gly1993Glu)
c.5960G>A (p.Gly1987Glu)
c.5954G>A (p.Gly1985Glu)
c.5927G>A (p.Gly1976Glu)
c.5921G>A (p.Gly1974Glu)
c.5903G>A (p.Gly1968Glu)
c.5897G>A (p.Gly1966Glu)
c.5894G>A (p.Gly1965Glu)
c.5870G>A (p.Gly1957Glu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686220G>CCA383382660CACNA1C,CACNA1C-AS1c.5810G>C (p.Gly1937Ala)
c.5840G>C (p.Gly1947Ala)
c.5915G>C (p.Gly1972Ala)
c.5948G>C (p.Gly1983Ala)
c.5777G>C (p.Gly1926Ala)
c.5825G>C (p.Gly1942Ala)
c.6074G>C (p.Gly2025Ala)
c.5702G>C (p.Gly1901Ala)
c.5735G>C (p.Gly1912Ala)
c.5726G>C (p.Gly1909Ala)
c.5900G>C (p.Gly1967Ala)
n.860G>C
n.2238G>C
n.865G>C
c.5879G>C (p.Gly1960Ala)
c.5858G>C (p.Gly1953Ala)
c.5759G>C (p.Gly1920Ala)
c.5795G>C (p.Gly1932Ala)
c.5792G>C (p.Gly1931Ala)
c.5786G>C (p.Gly1929Ala)
c.5819G>C (p.Gly1940Ala)
c.5753G>C (p.Gly1918Ala)
c.5363G>C (p.Gly1788Ala)
c.5507G>C (p.Gly1836Ala)
c.5402G>C (p.Gly1801Ala)
c.1808G>C (p.Gly603Ala)
c.5438G>C (p.Gly1813Ala)
c.5984G>C (p.Gly1995Ala)
n.333+3920C>G
c.5354G>C (p.Gly1785Ala)
c.4799G>C (p.Gly1600Ala)
c.2909G>C (p.Gly970Ala)
c.6053G>C (p.Gly2018Ala)
c.6557G>C (p.Gly2186Ala)
c.6452G>C (p.Gly2151Ala)
c.6239G>C (p.Gly2080Ala)
c.6182G>C (p.Gly2061Ala)
c.6098G>C (p.Gly2033Ala)
c.6083G>C (p.Gly2028Ala)
c.5987G>C (p.Gly1996Ala)
c.5978G>C (p.Gly1993Ala)
c.5960G>C (p.Gly1987Ala)
c.5954G>C (p.Gly1985Ala)
c.5927G>C (p.Gly1976Ala)
c.5921G>C (p.Gly1974Ala)
c.5903G>C (p.Gly1968Ala)
c.5897G>C (p.Gly1966Ala)
c.5894G>C (p.Gly1965Ala)
c.5870G>C (p.Gly1957Ala)
12g.2686220G=CA2012350977CACNA1C,CACNA1C-AS1c.5810G= (p.Gly1937=)
c.5840G= (p.Gly1947=)
c.5915G= (p.Gly1972=)
c.5948G= (p.Gly1983=)
c.5777G= (p.Gly1926=)
c.5825G= (p.Gly1942=)
c.6074G= (p.Gly2025=)
c.5702G= (p.Gly1901=)
c.5735G= (p.Gly1912=)
c.5726G= (p.Gly1909=)
c.5900G= (p.Gly1967=)
n.860G=
n.2238G=
n.865G=
c.5879G= (p.Gly1960=)
c.5858G= (p.Gly1953=)
c.5759G= (p.Gly1920=)
c.5795G= (p.Gly1932=)
c.5792G= (p.Gly1931=)
c.5786G= (p.Gly1929=)
c.5819G= (p.Gly1940=)
c.5753G= (p.Gly1918=)
c.5363G= (p.Gly1788=)
c.5507G= (p.Gly1836=)
c.5402G= (p.Gly1801=)
c.1808G= (p.Gly603=)
c.5438G= (p.Gly1813=)
c.5984G= (p.Gly1995=)
n.333+3920C=
c.5354G= (p.Gly1785=)
c.4799G= (p.Gly1600=)
c.2909G= (p.Gly970=)
c.6053G= (p.Gly2018=)
c.6557G= (p.Gly2186=)
c.6452G= (p.Gly2151=)
c.6239G= (p.Gly2080=)
c.6182G= (p.Gly2061=)
c.6098G= (p.Gly2033=)
c.6083G= (p.Gly2028=)
c.5987G= (p.Gly1996=)
c.5978G= (p.Gly1993=)
c.5960G= (p.Gly1987=)
c.5954G= (p.Gly1985=)
c.5927G= (p.Gly1976=)
c.5921G= (p.Gly1974=)
c.5903G= (p.Gly1968=)
c.5897G= (p.Gly1966=)
c.5894G= (p.Gly1965=)
c.5870G= (p.Gly1957=)
12g.2686220G>TCA383382662CACNA1C,CACNA1C-AS1c.5810G>T (p.Gly1937Val)
c.5840G>T (p.Gly1947Val)
c.5915G>T (p.Gly1972Val)
c.5948G>T (p.Gly1983Val)
c.5777G>T (p.Gly1926Val)
c.5825G>T (p.Gly1942Val)
c.6074G>T (p.Gly2025Val)
c.5702G>T (p.Gly1901Val)
c.5735G>T (p.Gly1912Val)
c.5726G>T (p.Gly1909Val)
c.5900G>T (p.Gly1967Val)
n.860G>T
n.2238G>T
n.865G>T
c.5879G>T (p.Gly1960Val)
c.5858G>T (p.Gly1953Val)
c.5759G>T (p.Gly1920Val)
c.5795G>T (p.Gly1932Val)
c.5792G>T (p.Gly1931Val)
c.5786G>T (p.Gly1929Val)
c.5819G>T (p.Gly1940Val)
c.5753G>T (p.Gly1918Val)
c.5363G>T (p.Gly1788Val)
c.5507G>T (p.Gly1836Val)
c.5402G>T (p.Gly1801Val)
c.1808G>T (p.Gly603Val)
c.5438G>T (p.Gly1813Val)
c.5984G>T (p.Gly1995Val)
n.333+3920C>A
c.5354G>T (p.Gly1785Val)
c.4799G>T (p.Gly1600Val)
c.2909G>T (p.Gly970Val)
c.6053G>T (p.Gly2018Val)
c.6557G>T (p.Gly2186Val)
c.6452G>T (p.Gly2151Val)
c.6239G>T (p.Gly2080Val)
c.6182G>T (p.Gly2061Val)
c.6098G>T (p.Gly2033Val)
c.6083G>T (p.Gly2028Val)
c.5987G>T (p.Gly1996Val)
c.5978G>T (p.Gly1993Val)
c.5960G>T (p.Gly1987Val)
c.5954G>T (p.Gly1985Val)
c.5927G>T (p.Gly1976Val)
c.5921G>T (p.Gly1974Val)
c.5903G>T (p.Gly1968Val)
c.5897G>T (p.Gly1966Val)
c.5894G>T (p.Gly1965Val)
c.5870G>T (p.Gly1957Val)
12g.2686221A>CCA477902626CACNA1C,CACNA1C-AS1c.5811A>C (p.Gly1937=)
c.5841A>C (p.Gly1947=)
c.5916A>C (p.Gly1972=)
c.5949A>C (p.Gly1983=)
c.5778A>C (p.Gly1926=)
c.5826A>C (p.Gly1942=)
c.6075A>C (p.Gly2025=)
c.5703A>C (p.Gly1901=)
c.5736A>C (p.Gly1912=)
c.5727A>C (p.Gly1909=)
c.5901A>C (p.Gly1967=)
n.861A>C
n.2239A>C
n.866A>C
c.5880A>C (p.Gly1960=)
c.5859A>C (p.Gly1953=)
c.5760A>C (p.Gly1920=)
c.5796A>C (p.Gly1932=)
c.5793A>C (p.Gly1931=)
c.5787A>C (p.Gly1929=)
c.5820A>C (p.Gly1940=)
c.5754A>C (p.Gly1918=)
c.5364A>C (p.Gly1788=)
c.5508A>C (p.Gly1836=)
c.5403A>C (p.Gly1801=)
c.1809A>C (p.Gly603=)
c.5439A>C (p.Gly1813=)
c.5985A>C (p.Gly1995=)
n.333+3919T>G
c.5355A>C (p.Gly1785=)
c.4800A>C (p.Gly1600=)
c.2910A>C (p.Gly970=)
c.6054A>C (p.Gly2018=)
c.6558A>C (p.Gly2186=)
c.6453A>C (p.Gly2151=)
c.6240A>C (p.Gly2080=)
c.6183A>C (p.Gly2061=)
c.6099A>C (p.Gly2033=)
c.6084A>C (p.Gly2028=)
c.5988A>C (p.Gly1996=)
c.5979A>C (p.Gly1993=)
c.5961A>C (p.Gly1987=)
c.5955A>C (p.Gly1985=)
c.5928A>C (p.Gly1976=)
c.5922A>C (p.Gly1974=)
c.5904A>C (p.Gly1968=)
c.5898A>C (p.Gly1966=)
c.5895A>C (p.Gly1965=)
c.5871A>C (p.Gly1957=)
12g.2686221A>GCA477902628CACNA1C,CACNA1C-AS1c.5811A>G (p.Gly1937=)
c.5841A>G (p.Gly1947=)
c.5916A>G (p.Gly1972=)
c.5949A>G (p.Gly1983=)
c.5778A>G (p.Gly1926=)
c.5826A>G (p.Gly1942=)
c.6075A>G (p.Gly2025=)
c.5703A>G (p.Gly1901=)
c.5736A>G (p.Gly1912=)
c.5727A>G (p.Gly1909=)
c.5901A>G (p.Gly1967=)
n.861A>G
n.2239A>G
n.866A>G
c.5880A>G (p.Gly1960=)
c.5859A>G (p.Gly1953=)
c.5760A>G (p.Gly1920=)
c.5796A>G (p.Gly1932=)
c.5793A>G (p.Gly1931=)
c.5787A>G (p.Gly1929=)
c.5820A>G (p.Gly1940=)
c.5754A>G (p.Gly1918=)
c.5364A>G (p.Gly1788=)
c.5508A>G (p.Gly1836=)
c.5403A>G (p.Gly1801=)
c.1809A>G (p.Gly603=)
c.5439A>G (p.Gly1813=)
c.5985A>G (p.Gly1995=)
n.333+3919T>C
c.5355A>G (p.Gly1785=)
c.4800A>G (p.Gly1600=)
c.2910A>G (p.Gly970=)
c.6054A>G (p.Gly2018=)
c.6558A>G (p.Gly2186=)
c.6453A>G (p.Gly2151=)
c.6240A>G (p.Gly2080=)
c.6183A>G (p.Gly2061=)
c.6099A>G (p.Gly2033=)
c.6084A>G (p.Gly2028=)
c.5988A>G (p.Gly1996=)
c.5979A>G (p.Gly1993=)
c.5961A>G (p.Gly1987=)
c.5955A>G (p.Gly1985=)
c.5928A>G (p.Gly1976=)
c.5922A>G (p.Gly1974=)
c.5904A>G (p.Gly1968=)
c.5898A>G (p.Gly1966=)
c.5895A>G (p.Gly1965=)
c.5871A>G (p.Gly1957=)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
12g.2686221A>TCA477902627CACNA1C,CACNA1C-AS1c.5811A>T (p.Gly1937=)
c.5841A>T (p.Gly1947=)
c.5916A>T (p.Gly1972=)
c.5949A>T (p.Gly1983=)
c.5778A>T (p.Gly1926=)
c.5826A>T (p.Gly1942=)
c.6075A>T (p.Gly2025=)
c.5703A>T (p.Gly1901=)
c.5736A>T (p.Gly1912=)
c.5727A>T (p.Gly1909=)
c.5901A>T (p.Gly1967=)
n.861A>T
n.2239A>T
n.866A>T
c.5880A>T (p.Gly1960=)
c.5859A>T (p.Gly1953=)
c.5760A>T (p.Gly1920=)
c.5796A>T (p.Gly1932=)
c.5793A>T (p.Gly1931=)
c.5787A>T (p.Gly1929=)
c.5820A>T (p.Gly1940=)
c.5754A>T (p.Gly1918=)
c.5364A>T (p.Gly1788=)
c.5508A>T (p.Gly1836=)
c.5403A>T (p.Gly1801=)
c.1809A>T (p.Gly603=)
c.5439A>T (p.Gly1813=)
c.5985A>T (p.Gly1995=)
n.333+3919T>A
c.5355A>T (p.Gly1785=)
c.4800A>T (p.Gly1600=)
c.2910A>T (p.Gly970=)
c.6054A>T (p.Gly2018=)
c.6558A>T (p.Gly2186=)
c.6453A>T (p.Gly2151=)
c.6240A>T (p.Gly2080=)
c.6183A>T (p.Gly2061=)
c.6099A>T (p.Gly2033=)
c.6084A>T (p.Gly2028=)
c.5988A>T (p.Gly1996=)
c.5979A>T (p.Gly1993=)
c.5961A>T (p.Gly1987=)
c.5955A>T (p.Gly1985=)
c.5928A>T (p.Gly1976=)
c.5922A>T (p.Gly1974=)
c.5904A>T (p.Gly1968=)
c.5898A>T (p.Gly1966=)
c.5895A>T (p.Gly1965=)
c.5871A>T (p.Gly1957=)

Number of alleles fetched