| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108603036G>A | CA258637 | COL4A5 | c.2219G>A (p.Gly740Glu) n.1675G>A c.1895G>A (p.Gly632Glu) c.-58G>A (n.-58G>A) c.2234G>A (p.Gly745Glu) c.554G>A (p.Gly185Glu) | dbSNP gnomAD v4 |
| X | g.108603036G= | CA2450690311 | COL4A5 | c.2219G= (p.Gly740=) n.1675G= c.1895G= (p.Gly632=) c.-58G= (n.-58G=) c.2234G= (p.Gly745=) c.554G= (p.Gly185=) | dbSNP |