| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286698C>T | CA16608527 | AIRE | c.274C>T (p.Arg92Trp) n.435C>T n.443C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44286698C= | CA2391565234 | AIRE | c.274C= (p.Arg92=) n.435C= n.443C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286698C>T | CA16608527 | AIRE | c.274C>T (p.Arg92Trp) n.435C>T n.443C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 21 | g.44286698C= | CA2391565234 | AIRE | c.274C= (p.Arg92=) n.435C= n.443C= | dbSNP |