| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.20348858C>T | CA256238 | UMOD | c.443G>A (p.Cys148Tyr) c.542G>A (p.Cys181Tyr) c.590G>A (p.Cys197Tyr) c.527G>A (p.Cys176Tyr) n.668G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.20348858C= | CA2211942897 | UMOD | c.443G= (p.Cys148=) c.542G= (p.Cys181=) c.590G= (p.Cys197=) c.527G= (p.Cys176=) n.668G= | dbSNP |