| 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 |
| X | g.108586694G= | CA2450685016 | COL4A5 | c.1112G= (p.Gly371=) n.568G= c.788G= (p.Gly263=) c.1127G= (p.Gly376=) c.-598G= (n.-598G=) | dbSNP |