| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108575937G>T | CA413922187 | COL4A5 | c.574G>T (p.Gly192Trp) c.250G>T (p.Gly84Trp) c.589G>T (p.Gly197Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.108575937G>A | CA258274 | COL4A5 | c.574G>A (p.Gly192Arg) c.250G>A (p.Gly84Arg) c.589G>A (p.Gly197Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108575937G= | CA2450681487 | COL4A5 | c.574G= (p.Gly192=) c.250G= (p.Gly84=) c.589G= (p.Gly197=) | dbSNP |