| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286679C>A | CA16042013 | AIRE | c.255C>A (p.Tyr85Ter) n.416C>A n.424C>A | ClinVar dbSNP |
| 21 | g.44286679C>T | CA512490217 | AIRE | c.255C>T (p.Tyr85=) n.416C>T n.424C>T | dbSNP gnomAD v4 |
| 21 | g.44286679C= | CA2391565220 | AIRE | c.255C= (p.Tyr85=) n.416C= n.424C= | dbSNP |