| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597042G>T | CA255264 | COL4A5 | c.1561G>T (p.Gly521Cys) n.1017G>T c.1237G>T (p.Gly413Cys) c.1576G>T (p.Gly526Cys) c.-105G>T (n.-105G>T) | ClinVar dbSNP gnomAD v4 |
| X | g.108597042G>A | CA334038362 | COL4A5 | c.1561G>A (p.Gly521Ser) n.1017G>A c.1237G>A (p.Gly413Ser) c.1576G>A (p.Gly526Ser) c.-105G>A (n.-105G>A) | dbSNP gnomAD v4 |