| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591635G>A | CA258474 | COL4A5 | c.1414G>A (p.Gly472Arg) n.870G>A c.1090G>A (p.Gly364Arg) c.1429G>A (p.Gly477Arg) c.-296G>A (n.-296G>A) | ClinVar dbSNP |
| X | g.108591635G= | CA2450686590 | COL4A5 | c.1414G= (p.Gly472=) n.870G= c.1090G= (p.Gly364=) c.1429G= (p.Gly477=) c.-296G= (n.-296G=) | dbSNP |