| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108586676G>A | CA258397 | COL4A5 | c.1094G>A (p.Gly365Glu) n.550G>A c.770G>A (p.Gly257Glu) c.1109G>A (p.Gly370Glu) c.-616G>A (n.-616G>A) | ClinVar dbSNP |
| X | g.108586676G= | CA2450685012 | COL4A5 | c.1094G= (p.Gly365=) n.550G= c.770G= (p.Gly257=) c.1109G= (p.Gly370=) c.-616G= (n.-616G=) | dbSNP |