| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620373G>A | CA258724 | COL4A5 | c.2624G>A (p.Gly875Glu) n.2080G>A c.2300G>A (p.Gly767Glu) c.197G>A (p.Gly66Glu) c.2639G>A (p.Gly880Glu) c.959G>A (p.Gly320Glu) | ClinVar dbSNP |
| X | g.108620373G= | CA2450695977 | COL4A5 | c.2624G= (p.Gly875=) n.2080G= c.2300G= (p.Gly767=) c.197G= (p.Gly66=) c.2639G= (p.Gly880=) c.959G= (p.Gly320=) | dbSNP |