| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36236928C>T | CA253703 | CLTA,GNE | c.766G>A (p.Asp256Asn) c.496G>A (p.Asp166Asn) c.673G>A (p.Asp225Asn) c.486-26270C>T (n.486-26270C>T) c.440-2796G>A (n.440-2796G>A) c.658G>A (p.Asp220Asn) c.710-2796G>A (n.710-2796G>A) c.617-2796G>A (n.617-2796G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36236928C= | CA1846360627 | CLTA,GNE | c.766G= (p.Asp256=) c.496G= (p.Asp166=) c.673G= (p.Asp225=) c.486-26270C= (n.486-26270C=) c.440-2796G= (n.440-2796G=) c.658G= (p.Asp220=) c.710-2796G= (n.710-2796G=) c.617-2796G= (n.617-2796G=) | dbSNP |
| 9 | g.36236928C>A | CA373415302 | CLTA,GNE | c.766G>T (p.Asp256Tyr) c.496G>T (p.Asp166Tyr) c.673G>T (p.Asp225Tyr) c.486-26270C>A (n.486-26270C>A) c.440-2796G>T (n.440-2796G>T) c.658G>T (p.Asp220Tyr) c.710-2796G>T (n.710-2796G>T) c.617-2796G>T (n.617-2796G>T) | dbSNP gnomAD v4 |