| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108625776G>A | CA258803 | COL4A5 | c.3088G>A (p.Gly1030Ser) n.2544G>A c.321G>A c.2764G>A (p.Gly922Ser) c.661G>A (p.Gly221Ser) c.3103G>A (p.Gly1035Ser) c.1423G>A (p.Gly475Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.108625776G= | CA2450697917 | COL4A5 | c.3088G= (p.Gly1030=) n.2544G= c.321G= c.2764G= (p.Gly922=) c.661G= (p.Gly221=) c.3103G= (p.Gly1035=) c.1423G= (p.Gly475=) | dbSNP |