| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620408G>A | CA413851677 | COL4A5 | c.2659G>A (p.Gly887Ser) n.2115G>A c.2335G>A (p.Gly779Ser) c.232G>A (p.Gly78Ser) c.2674G>A (p.Gly892Ser) c.994G>A (p.Gly332Ser) | ClinVar dbSNP |
| X | g.108620408G>C | CA258731 | COL4A5 | c.2659G>C (p.Gly887Arg) n.2115G>C c.2335G>C (p.Gly779Arg) c.232G>C (p.Gly78Arg) c.2674G>C (p.Gly892Arg) c.994G>C (p.Gly332Arg) | dbSNP |