| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622748G>A | CA258774 | COL4A5 | c.2840G>A (p.Gly947Asp) n.2296G>A c.73G>A c.2516G>A (p.Gly839Asp) c.413G>A (p.Gly138Asp) c.2855G>A (p.Gly952Asp) c.1175G>A (p.Gly392Asp) | dbSNP |
| X | g.108622748G= | CA2450696873 | COL4A5 | c.2840G= (p.Gly947=) n.2296G= c.73G= c.2516G= (p.Gly839=) c.413G= (p.Gly138=) c.2855G= (p.Gly952=) c.1175G= (p.Gly392=) | dbSNP |