| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36218225C>T | CA253683 | CLTA,GNE | c.1984G>A (p.Ala662Thr) c.1714G>A (p.Ala572Thr) c.1891G>A (p.Ala631Thr) c.1669G>A (p.Ala557Thr) c.485+14046C>T (n.485+14046C>T) c.1561G>A (p.Ala521Thr) c.1876G>A (p.Ala626Thr) c.1831G>A (p.Ala611Thr) c.1738G>A (p.Ala580Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36218225C= | CA1846325413 | CLTA,GNE | c.1984G= (p.Ala662=) c.1714G= (p.Ala572=) c.1891G= (p.Ala631=) c.1669G= (p.Ala557=) c.485+14046C= (n.485+14046C=) c.1561G= (p.Ala521=) c.1876G= (p.Ala626=) c.1831G= (p.Ala611=) c.1738G= (p.Ala580=) | dbSNP |