| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591109G>A | CA413932356 | COL4A5 | c.1217G>A (p.Gly406Asp) n.673G>A c.893G>A (p.Gly298Asp) c.1232G>A (p.Gly411Asp) c.-493G>A (n.-493G>A) | ClinVar dbSNP |
| X | g.108591109G>T | CA258427 | COL4A5 | c.1217G>T (p.Gly406Val) n.673G>T c.893G>T (p.Gly298Val) c.1232G>T (p.Gly411Val) c.-493G>T (n.-493G>T) | ClinVar dbSNP |
| X | g.108591109G= | CA2450686404 | COL4A5 | c.1217G= (p.Gly406=) n.673G= c.893G= (p.Gly298=) c.1232G= (p.Gly411=) c.-493G= (n.-493G=) | dbSNP |