| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108571416G>T | CA258239 | COL4A5 | c.388G>T (p.Glu130Ter) c.64G>T (p.Glu22Ter) c.403G>T (p.Glu135Ter) | dbSNP gnomAD v4 |
| X | g.108571416G>A | CA413919737 | COL4A5 | c.388G>A (p.Glu130Lys) c.64G>A (p.Glu22Lys) c.403G>A (p.Glu135Lys) | dbSNP gnomAD v4 |
| X | g.108571416G= | CA2450680105 | COL4A5 | c.388G= (p.Glu130=) c.64G= (p.Glu22=) c.403G= (p.Glu135=) | dbSNP |