Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13298658T>ACA152094CACNA1Ac.2975A>T (p.Glu992Val)
c.2981A>T (p.Glu994Val)
c.2978A>T (p.Glu993Val)
c.2987A>T (p.Glu996Val)
c.2837A>T (p.Glu946Val)
c.3173A>T (p.Glu1058Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13298658T>CCA404342333CACNA1Ac.2975A>G (p.Glu992Gly)
c.2981A>G (p.Glu994Gly)
c.2978A>G (p.Glu993Gly)
c.2987A>G (p.Glu996Gly)
c.2837A>G (p.Glu946Gly)
c.3173A>G (p.Glu1058Gly)
dbSNP gnomAD v4

Number of alleles fetched