| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108655340G>C | CA258844 | COL4A5 | c.3256G>C (p.Gly1086Arg) c.2932G>C (p.Gly978Arg) c.829G>C (p.Gly277Arg) c.3271G>C (p.Gly1091Arg) c.1591G>C (p.Gly531Arg) | ClinVar dbSNP |
| X | g.108655340G= | CA2450708595 | COL4A5 | c.3256G= (p.Gly1086=) c.2932G= (p.Gly978=) c.829G= (p.Gly277=) c.3271G= (p.Gly1091=) c.1591G= (p.Gly531=) | dbSNP |