Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154380323C>A | CA10561579 | EMD | c.355C>A (p.Gln119Lys) n.545C>A c.312C>A (p.Ala104=) n.327C>A c.351C>A (n.351C>A) c.250C>A (p.Gln84Lys) c.*260C>A (n.*260C>A) n.315C>A n.713C>A n.338C>A n.626C>A c.361C>A (p.Gln121Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154380323C>T | CA220365 | EMD | c.355C>T (p.Gln119Ter) n.545C>T c.312C>T (p.Ala104=) n.327C>T c.351C>T (n.351C>T) c.250C>T (p.Gln84Ter) c.*260C>T (n.*260C>T) n.315C>T n.713C>T n.338C>T n.626C>T c.361C>T (p.Gln121Ter) | ClinVar dbSNP |