| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8768866G>A | CA235947 | ABAT | c.709G>A (p.Asp237Asn) c.*449G>A (n.*449G>A) c.754G>A (p.Asp252Asn) c.646G>A (p.Asp216Asn) c.616G>A (p.Asp206Asn) c.574G>A (p.Asp192Asn) c.511G>A (p.Asp171Asn) c.463G>A (p.Asp155Asn) c.805G>A (p.Asp269Asn) | ClinVar dbSNP gnomAD v4 |
| 16 | g.8768866G= | CA2206109479 | ABAT | c.709G= (p.Asp237=) c.*449G= (n.*449G=) c.754G= (p.Asp252=) c.646G= (p.Asp216=) c.616G= (p.Asp206=) c.574G= (p.Asp192=) c.511G= (p.Asp171=) c.463G= (p.Asp155=) c.805G= (p.Asp269=) | dbSNP |