| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580713G>T | CA258337 | COL4A5 | c.866G>T (p.Gly289Val) c.542G>T (p.Gly181Val) c.881G>T (p.Gly294Val) | dbSNP |
| X | g.108580713G>A | CA413926301 | COL4A5 | c.866G>A (p.Gly289Asp) c.542G>A (p.Gly181Asp) c.881G>A (p.Gly294Asp) | ClinVar dbSNP |