| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601894G>T | CA258605 | COL4A5 | c.2051G>T (p.Gly684Val) n.1507G>T c.1727G>T (p.Gly576Val) c.2066G>T (p.Gly689Val) c.386G>T (p.Gly129Val) | dbSNP gnomAD v4 |
| X | g.108601894G= | CA2450689939 | COL4A5 | c.2051G= (p.Gly684=) n.1507G= c.1727G= (p.Gly576=) c.2066G= (p.Gly689=) c.386G= (p.Gly129=) | dbSNP |