| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622729G>T | CA258769 | COL4A5 | c.2821G>T (p.Gly941Cys) n.2277G>T c.54G>T c.2497G>T (p.Gly833Cys) c.394G>T (p.Gly132Cys) c.2836G>T (p.Gly946Cys) c.1156G>T (p.Gly386Cys) | ClinVar dbSNP COSMIC |
| X | g.108622729G>C | CA413852720 | COL4A5 | c.2821G>C (p.Gly941Arg) n.2277G>C c.54G>C c.2497G>C (p.Gly833Arg) c.394G>C (p.Gly132Arg) c.2836G>C (p.Gly946Arg) c.1156G>C (p.Gly386Arg) | ClinVar dbSNP |