| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626281G>T | CA258816 | COL4A5 | c.3178G>T (p.Gly1060Ter) n.2634G>T c.411G>T c.2854G>T (p.Gly952Ter) c.751G>T (p.Gly251Ter) c.3193G>T (p.Gly1065Ter) c.1513G>T (p.Gly505Ter) | ClinVar dbSNP |
| X | g.108626281G= | CA2450698088 | COL4A5 | c.3178G= (p.Gly1060=) n.2634G= c.411G= c.2854G= (p.Gly952=) c.751G= (p.Gly251=) c.3193G= (p.Gly1065=) c.1513G= (p.Gly505=) | dbSNP |