| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668346G>A | CA258914 | COL4A5 | c.3632G>A (p.Gly1211Glu) c.3308G>A (p.Gly1103Glu) c.1205G>A (p.Gly402Glu) c.3647G>A (p.Gly1216Glu) c.1967G>A (p.Gly656Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108668346G= | CA2450712924 | COL4A5 | c.3632G= (p.Gly1211=) c.3308G= (p.Gly1103=) c.1205G= (p.Gly402=) c.3647G= (p.Gly1216=) c.1967G= (p.Gly656=) | dbSNP |