| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591091G>A | CA258420 | COL4A5 | c.1199G>A (p.Gly400Glu) n.655G>A c.875G>A (p.Gly292Glu) c.1214G>A (p.Gly405Glu) c.-511G>A (n.-511G>A) | ClinVar dbSNP |
| X | g.108591091G= | CA2450686397 | COL4A5 | c.1199G= (p.Gly400=) n.655G= c.875G= (p.Gly292=) c.1214G= (p.Gly405=) c.-511G= (n.-511G=) | dbSNP |