| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286581G>T | CA16042011 | AIRE | c.157G>T (p.Glu53Ter) n.318G>T n.326G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44286581G= | CA2391565178 | AIRE | c.157G= (p.Glu53=) n.318G= n.326G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286581G>T | CA16042011 | AIRE | c.157G>T (p.Glu53Ter) n.318G>T n.326G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 21 | g.44286581G= | CA2391565178 | AIRE | c.157G= (p.Glu53=) n.318G= n.326G= | dbSNP |