| 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 |
| 15 | g.40410756C= | CA2171765549 | IVD | c.325C= (p.Arg109=) c.415C= (p.Arg139=) c.502C= (p.Arg168=) c.334C= (p.Arg112=) c.424C= (p.Arg142=) c.174C= c.21C= n.38C= c.367C= (p.Arg123=) c.511C= (p.Arg171=) n.424C= n.525C= n.825C= c.454C= (p.Arg152=) n.774C= n.815C= n.827C= | dbSNP |
| 15 | g.40410756C>G | CA391716672 | IVD | c.325C>G (p.Arg109Gly) c.415C>G (p.Arg139Gly) c.502C>G (p.Arg168Gly) c.334C>G (p.Arg112Gly) c.424C>G (p.Arg142Gly) c.174C>G c.21C>G n.38C>G c.367C>G (p.Arg123Gly) c.511C>G (p.Arg171Gly) n.424C>G n.525C>G n.825C>G c.454C>G (p.Arg152Gly) n.774C>G n.815C>G n.827C>G | dbSNP |