| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.2566465C>T | CA301308 | CACNA1C | c.971C>T (n.971C>T) c.1627C>T (p.Arg543Cys) c.1552C>T (p.Arg518Cys) c.44C>T c.559C>T (p.Arg187Cys) c.1642C>T (p.Arg548Cys) c.1543C>T (p.Arg515Cys) c.1717C>T (p.Arg573Cys) c.*159C>T (n.*159C>T) c.*1172C>T (n.*1172C>T) n.552C>T c.1075C>T (p.Arg359Cys) c.712C>T (p.Arg238Cys) c.157C>T (p.Arg53Cys) c.1915C>T (p.Arg639Cys) c.1720C>T (p.Arg574Cys) c.1795C>T (p.Arg599Cys) c.1711C>T (p.Arg571Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 12 | g.2566465C= | CA3191894059 | CACNA1C | c.971C= (n.971C=) c.1627C= (p.Arg543=) c.1552C= (p.Arg518=) c.44C= c.559C= (p.Arg187=) c.1642C= (p.Arg548=) c.1543C= (p.Arg515=) c.1717C= (p.Arg573=) c.*159C= (n.*159C=) c.*1172C= (n.*1172C=) n.552C= c.1075C= (p.Arg359=) c.712C= (p.Arg238=) c.157C= (p.Arg53=) c.1915C= (p.Arg639=) c.1720C= (p.Arg574=) c.1795C= (p.Arg599=) c.1711C= (p.Arg571=) | dbSNP |
| 12 | g.2566465C>A | CA383368477 | CACNA1C | c.971C>A (n.971C>A) c.1627C>A (p.Arg543Ser) c.1552C>A (p.Arg518Ser) c.44C>A c.559C>A (p.Arg187Ser) c.1642C>A (p.Arg548Ser) c.1543C>A (p.Arg515Ser) c.1717C>A (p.Arg573Ser) c.*159C>A (n.*159C>A) c.*1172C>A (n.*1172C>A) n.552C>A c.1075C>A (p.Arg359Ser) c.712C>A (p.Arg238Ser) c.157C>A (p.Arg53Ser) c.1915C>A (p.Arg639Ser) c.1720C>A (p.Arg574Ser) c.1795C>A (p.Arg599Ser) c.1711C>A (p.Arg571Ser) | ClinVar dbSNP gnomAD v4 |