| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44293832C>G | CA410425687 | AIRE | c.1322C>G (p.Thr441Arg) n.783C>G n.701C>G n.2052C>G n.3069C>G c.1319C>G (p.Thr440Arg) | dbSNP gnomAD v4 |
| 21 | g.44293832C>T | CA213495 | AIRE | c.1322C>T (p.Thr441Met) n.783C>T n.701C>T n.2052C>T n.3069C>T c.1319C>T (p.Thr440Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |