| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.110178968C>T | CA256259306 | COL4A1 | c.2413G>A (p.Gly805Arg) n.2543G>A c.2221G>A (p.Gly741Arg) | ClinVar dbSNP |
| 13 | g.110178968C= | CA2118732579 | COL4A1 | c.2413G= (p.Gly805=) n.2543G= c.2221G= (p.Gly741=) | dbSNP |