| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108573637G>T | CA258257 | COL4A5 | c.529G>T (p.Gly177Cys) c.205G>T (p.Gly69Cys) c.544G>T (p.Gly182Cys) | ClinVar dbSNP |
| X | g.108573637G>C | CA258259 | COL4A5 | c.529G>C (p.Gly177Arg) c.205G>C (p.Gly69Arg) c.544G>C (p.Gly182Arg) | dbSNP |
| X | g.108573637G= | CA2450680747 | COL4A5 | c.529G= (p.Gly177=) c.205G= (p.Gly69=) c.544G= (p.Gly182=) | dbSNP |