| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108621871A>G | CA258753 | COL4A5 | c.2746A>G (p.Ser916Gly) n.2202A>G c.2422A>G (p.Ser808Gly) c.319A>G (p.Ser107Gly) c.2761A>G (p.Ser921Gly) c.1081A>G (p.Ser361Gly) | ClinVar dbSNP |
| X | g.108621871A= | CA2450696589 | COL4A5 | c.2746A= (p.Ser916=) n.2202A= c.2422A= (p.Ser808=) c.319A= (p.Ser107=) c.2761A= (p.Ser921=) c.1081A= (p.Ser361=) | dbSNP |