Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13298658T>A | CA152094 | CACNA1A | c.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 |
19 | g.13298658T>C | CA404342333 | CACNA1A | c.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 |