| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625768G>T | CA258800 | COL4A5 | c.3080G>T (p.Gly1027Val) n.2536G>T c.313G>T c.2756G>T (p.Gly919Val) c.653G>T (p.Gly218Val) c.3095G>T (p.Gly1032Val) c.1415G>T (p.Gly472Val) | dbSNP |
| X | g.108625768G>A | CA413854690 | COL4A5 | c.3080G>A (p.Gly1027Glu) n.2536G>A c.313G>A c.2756G>A (p.Gly919Glu) c.653G>A (p.Gly218Glu) c.3095G>A (p.Gly1032Glu) c.1415G>A (p.Gly472Glu) | ClinVar dbSNP COSMIC |