| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598793G>A | CA258560 | COL4A5 | c.1871G>A (p.Gly624Asp) n.1327G>A c.1547G>A (p.Gly516Asp) c.1886G>A (p.Gly629Asp) c.206G>A (p.Gly69Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108598793G>T | CA413845781 | COL4A5 | c.1871G>T (p.Gly624Val) n.1327G>T c.1547G>T (p.Gly516Val) c.1886G>T (p.Gly629Val) c.206G>T (p.Gly69Val) | ClinVar dbSNP |