| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36218224G>A | CA253717 | CLTA,GNE | c.1985C>T (p.Ala662Val) c.1715C>T (p.Ala572Val) c.1892C>T (p.Ala631Val) c.1670C>T (p.Ala557Val) c.485+14045G>A (n.485+14045G>A) c.1562C>T (p.Ala521Val) c.1877C>T (p.Ala626Val) c.1832C>T (p.Ala611Val) c.1739C>T (p.Ala580Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.36218224G= | CA1846325393 | CLTA,GNE | c.1985C= (p.Ala662=) c.1715C= (p.Ala572=) c.1892C= (p.Ala631=) c.1670C= (p.Ala557=) c.485+14045G= (n.485+14045G=) c.1562C= (p.Ala521=) c.1877C= (p.Ala626=) c.1832C= (p.Ala611=) c.1739C= (p.Ala580=) | dbSNP |