| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620303G>A | CA258707 | COL4A5 | c.2554G>A (p.Gly852Arg) n.2010G>A c.2230G>A (p.Gly744Arg) c.127G>A (p.Gly43Arg) c.2569G>A (p.Gly857Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
| X | g.108620303G= | CA2450695942 | COL4A5 | c.2554G= (p.Gly852=) n.2010G= c.2230G= (p.Gly744=) c.127G= (p.Gly43=) c.2569G= (p.Gly857=) c.889G= (p.Gly297=) | dbSNP |