| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598702G>A | CA258543 | COL4A5 | c.1780G>A (p.Gly594Ser) n.1236G>A c.1456G>A (p.Gly486Ser) c.1795G>A (p.Gly599Ser) c.115G>A (p.Gly39Ser) | ClinVar dbSNP |
| X | g.108598702G= | CA2450688801 | COL4A5 | c.1780G= (p.Gly594=) n.1236G= c.1456G= (p.Gly486=) c.1795G= (p.Gly599=) c.115G= (p.Gly39=) | dbSNP |