| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601462del | CA258594 | COL4A5 | c.2018del (p.Arg673LysfsTer5) n.1474del c.1694del (p.Arg565LysfsTer5) c.2033del (p.Arg678LysfsTer5) c.353del (p.Arg118LysfsTer5) | dbSNP |
| X | g.108601462G= | CA2580701027 | COL4A5 | c.2018G= (p.Arg673=) n.1474G= c.1694G= (p.Arg565=) c.2033G= (p.Arg678=) c.353G= (p.Arg118=) | dbSNP dbSNP |