| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591160G>A | CA258447 | COL4A5 | c.1268G>A (p.Gly423Glu) n.724G>A c.944G>A (p.Gly315Glu) c.1283G>A (p.Gly428Glu) c.-442G>A (n.-442G>A) | dbSNP gnomAD v4 |
| X | g.108591160G= | CA2450686423 | COL4A5 | c.1268G= (p.Gly423=) n.724G= c.944G= (p.Gly315=) c.1283G= (p.Gly428=) c.-442G= (n.-442G=) | dbSNP |