Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.1204369C>A | CA7800220 | CACNA1H | c.2362C>A (p.Arg788Ser) c.2323C>A (p.Arg775Ser) c.*1809C>A (n.*1809C>A) c.1594C>A (p.Arg532Ser) c.*275C>A (n.*275C>A) c.1816C>A (p.Arg606Ser) n.2464C>A n.2460C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.1204369C>G | CA394166362 | CACNA1H | c.2362C>G (p.Arg788Gly) c.2323C>G (p.Arg775Gly) c.*1809C>G (n.*1809C>G) c.1594C>G (p.Arg532Gly) c.*275C>G (n.*275C>G) c.1816C>G (p.Arg606Gly) n.2464C>G n.2460C>G | ClinVar dbSNP |
16 | g.1204369C>T | CA149144 | CACNA1H | c.2362C>T (p.Arg788Cys) c.2323C>T (p.Arg775Cys) c.*1809C>T (n.*1809C>T) c.1594C>T (p.Arg532Cys) c.*275C>T (n.*275C>T) c.1816C>T (p.Arg606Cys) n.2464C>T n.2460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |