| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591618G>A | CA258469 | COL4A5 | c.1397G>A (p.Gly466Glu) n.853G>A c.1073G>A (p.Gly358Glu) c.1412G>A (p.Gly471Glu) c.-313G>A (n.-313G>A) | ClinVar dbSNP |
| X | g.108591618G= | CA2450686582 | COL4A5 | c.1397G= (p.Gly466=) n.853G= c.1073G= (p.Gly358=) c.1412G= (p.Gly471=) c.-313G= (n.-313G=) | dbSNP |