| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598747G>C | CA258551 | COL4A5 | c.1825G>C (p.Gly609Arg) n.1281G>C c.1501G>C (p.Gly501Arg) c.1840G>C (p.Gly614Arg) c.160G>C (p.Gly54Arg) | dbSNP |
| X | g.108598747G= | CA2450688818 | COL4A5 | c.1825G= (p.Gly609=) n.1281G= c.1501G= (p.Gly501=) c.1840G= (p.Gly614=) c.160G= (p.Gly54=) | dbSNP |
| X | g.108598747G>T | CA413845693 | COL4A5 | c.1825G>T (p.Gly609Cys) n.1281G>T c.1501G>T (p.Gly501Cys) c.1840G>T (p.Gly614Cys) c.160G>T (p.Gly54Cys) | ClinVar dbSNP |