| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108586721G>A | CA258409 | COL4A5 | c.1139G>A (p.Gly380Asp) n.595G>A c.815G>A (p.Gly272Asp) c.1154G>A (p.Gly385Asp) c.-571G>A (n.-571G>A) | ClinVar dbSNP |
| X | g.108586721G= | CA2450685034 | COL4A5 | c.1139G= (p.Gly380=) n.595G= c.815G= (p.Gly272=) c.1154G= (p.Gly385=) c.-571G= (n.-571G=) | dbSNP |