Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46860703G>A | CA013710 | MYL3 | c.280C>T (p.Arg94Cys) n.502C>T n.238C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46860703G>T | CA16611401 | MYL3 | c.280C>A (p.Arg94Ser) n.502C>A n.238C>A | ClinVar dbSNP |
3 | g.46860703G= | CA1362297632 | MYL3 | c.280C= (p.Arg94=) n.502C= n.238C= | dbSNP |