| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108620363G>C | CA258722 | COL4A5 | c.2614G>C (p.Gly872Arg) n.2070G>C c.2290G>C (p.Gly764Arg) c.187G>C (p.Gly63Arg) c.2629G>C (p.Gly877Arg) c.949G>C (p.Gly317Arg) | dbSNP |
| X | g.108620363G>T | CA413851496 | COL4A5 | c.2614G>T (p.Gly872Cys) n.2070G>T c.2290G>T (p.Gly764Cys) c.187G>T (p.Gly63Cys) c.2629G>T (p.Gly877Cys) c.949G>T (p.Gly317Cys) | ClinVar dbSNP |