| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108575965G>A | CA413922460 | COL4A5 | c.602G>A (p.Gly201Asp) c.278G>A (p.Gly93Asp) c.617G>A (p.Gly206Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108575965G>T | CA258282 | COL4A5 | c.602G>T (p.Gly201Val) c.278G>T (p.Gly93Val) c.617G>T (p.Gly206Val) | dbSNP gnomAD v4 |
| X | g.108575965G>C | CA10488514 | COL4A5 | c.602G>C (p.Gly201Ala) c.278G>C (p.Gly93Ala) c.617G>C (p.Gly206Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |