| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598834G>A | CA258573 | COL4A5 | c.1912G>A (p.Gly638Ser) n.1368G>A c.1588G>A (p.Gly530Ser) c.1927G>A (p.Gly643Ser) c.247G>A (p.Gly83Ser) | ClinVar dbSNP |
| X | g.108598834G= | CA2450688859 | COL4A5 | c.1912G= (p.Gly638=) n.1368G= c.1588G= (p.Gly530=) c.1927G= (p.Gly643=) c.247G= (p.Gly83=) | dbSNP |