| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580722G>T | CA258343 | COL4A5 | c.875G>T (p.Gly292Val) c.551G>T (p.Gly184Val) c.890G>T (p.Gly297Val) | dbSNP |
| X | g.108580722G>A | CA413926404 | COL4A5 | c.875G>A (p.Gly292Glu) c.551G>A (p.Gly184Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |