| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133539801G>A | CA339826 | ADAMTSL2 | c.340G>A (p.Glu114Lys) c.667G>A (p.Glu223Lys) c.375G>A (p.Ala125=) c.228G>A (p.Ala76=) c.406G>A (p.Glu136Lys) c.555G>A (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133539801G>T | CA375402403 | ADAMTSL2 | c.340G>T (p.Glu114Ter) c.667G>T (p.Glu223Ter) c.375G>T (p.Ala125=) c.228G>T (p.Ala76=) c.406G>T (p.Glu136Ter) c.555G>T (p.Ala185=) | dbSNP gnomAD v4 |
| 9 | g.133539801G= | CA1882727635 | ADAMTSL2 | c.340G= (p.Glu114=) c.667G= (p.Glu223=) c.375G= (p.Ala125=) c.228G= (p.Ala76=) c.406G= (p.Glu136=) c.555G= (p.Ala185=) | dbSNP |