| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598817G>A | CA258567 | COL4A5 | c.1895G>A (p.Gly632Asp) n.1351G>A c.1571G>A (p.Gly524Asp) c.1910G>A (p.Gly637Asp) c.230G>A (p.Gly77Asp) | ClinVar dbSNP |
| X | g.108598817G= | CA2450688852 | COL4A5 | c.1895G= (p.Gly632=) n.1351G= c.1571G= (p.Gly524=) c.1910G= (p.Gly637=) c.230G= (p.Gly77=) | dbSNP |
| X | g.108598817G>T | CA413845826 | COL4A5 | c.1895G>T (p.Gly632Val) n.1351G>T c.1571G>T (p.Gly524Val) c.1910G>T (p.Gly637Val) c.230G>T (p.Gly77Val) | ClinVar dbSNP |