Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108586694G>A | CA258402 | COL4A5 | c.1112G>A (p.Gly371Glu) n.568G>A c.788G>A (p.Gly263Glu) c.1127G>A (p.Gly376Glu) c.-598G>A (n.-598G>A) | dbSNP |
X | g.108586694G>T | CA413930628 | COL4A5 | c.1112G>T (p.Gly371Val) n.568G>T c.788G>T (p.Gly263Val) c.1127G>T (p.Gly376Val) c.-598G>T (n.-598G>T) | dbSNP |