| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597479G>T | CA258520 | COL4A5 | c.1690G>T (p.Gly564Cys) n.1146G>T c.1366G>T (p.Gly456Cys) c.1705G>T (p.Gly569Cys) c.25G>T (p.Gly9Cys) | ClinVar dbSNP |
| X | g.108597479G>C | CA10583987 | COL4A5 | c.1690G>C (p.Gly564Arg) n.1146G>C c.1366G>C (p.Gly456Arg) c.1705G>C (p.Gly569Arg) c.25G>C (p.Gly9Arg) | ClinVar dbSNP |