| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286671A>C | CA410423435 | AIRE | c.247A>C (p.Lys83Gln) n.408A>C n.416A>C | dbSNP |
| 21 | g.44286671A>G | CA116137 | AIRE | c.247A>G (p.Lys83Glu) n.408A>G n.416A>G | ClinVar dbSNP gnomAD v4 |
| 21 | g.44286671A= | CA2391565216 | AIRE | c.247A= (p.Lys83=) n.408A= n.416A= | dbSNP |