| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215325297C>G | CA2092922 | ATIC | c.347C>G (p.Thr116Ser) c.170C>G (p.Thr57Ser) c.*397C>G (n.*397C>G) c.344C>G (p.Thr115Ser) c.*444C>G (n.*444C>G) c.*25C>G (n.*25C>G) n.559C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.215325297C= | CA1327322106 | ATIC | c.347C= (p.Thr116=) c.170C= (p.Thr57=) c.*397C= (n.*397C=) c.344C= (p.Thr115=) c.*444C= (n.*444C=) c.*25C= (n.*25C=) n.559C= | dbSNP |