| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110205367G>A | CA16042820 | COL4A1 | c.943C>T (p.Arg315Cys) n.576C>T c.822C>T n.1073C>T c.751C>T (p.Arg251Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.110205367G= | CA2118751259 | COL4A1 | c.943C= (p.Arg315=) n.576C= c.822C= n.1073C= c.751C= (p.Arg251=) | dbSNP |