| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40410756C>T | CA312663 | IVD | c.325C>T (p.Arg109Cys) c.415C>T (p.Arg139Cys) c.502C>T (p.Arg168Cys) c.334C>T (p.Arg112Cys) c.424C>T (p.Arg142Cys) c.174C>T c.21C>T n.38C>T c.367C>T (p.Arg123Cys) c.511C>T (p.Arg171Cys) n.424C>T n.525C>T n.825C>T c.454C>T (p.Arg152Cys) n.774C>T n.815C>T n.827C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40410756C>A | CA7480616 | IVD | c.325C>A (p.Arg109Ser) c.415C>A (p.Arg139Ser) c.502C>A (p.Arg168Ser) c.334C>A (p.Arg112Ser) c.424C>A (p.Arg142Ser) c.174C>A c.21C>A n.38C>A c.367C>A (p.Arg123Ser) c.511C>A (p.Arg171Ser) n.424C>A n.525C>A n.825C>A c.454C>A (p.Arg152Ser) n.774C>A n.815C>A n.827C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |