| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108601885G>A | CA258600 | COL4A5 | c.2042G>A (p.Gly681Asp) n.1498G>A c.1718G>A (p.Gly573Asp) c.2057G>A (p.Gly686Asp) c.377G>A (p.Gly126Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.108601885G= | CA2450689934 | COL4A5 | c.2042G= (p.Gly681=) n.1498G= c.1718G= (p.Gly573=) c.2057G= (p.Gly686=) c.377G= (p.Gly126=) | dbSNP |