| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44287085C>T | CA116140 | AIRE | c.415C>T (p.Arg139Ter) n.576C>T n.584C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44287085C>G | CA10051549 | AIRE | c.415C>G (p.Arg139Gly) n.576C>G n.584C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.44287085C= | CA2391565427 | AIRE | c.415C= (p.Arg139=) n.576C= n.584C= | dbSNP |