| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108559064G>A | CA258212 | COL4A5 | c.142G>A (p.Gly48Arg) n.326G>A c.-183G>A (n.-183G>A) c.157G>A (p.Gly53Arg) | ClinVar dbSNP |
| X | g.108559064G= | CA2450676219 | COL4A5 | c.142G= (p.Gly48=) n.326G= c.-183G= (n.-183G=) c.157G= (p.Gly53=) | dbSNP |