| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597470G>A | CA258518 | COL4A5 | c.1681G>A (p.Gly561Arg) n.1137G>A c.1357G>A (p.Gly453Arg) c.1696G>A (p.Gly566Arg) c.16G>A (p.Gly6Arg) | ClinVar dbSNP |
| X | g.108597470G= | CA2450688374 | COL4A5 | c.1681G= (p.Gly561=) n.1137G= c.1357G= (p.Gly453=) c.1696G= (p.Gly566=) c.16G= (p.Gly6=) | dbSNP |