| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19764224C>G | CA254219 | TBX1 | c.135C>G (p.His45Gln) c.609C>G (p.His203Gln) c.582C>G (p.His194Gln) c.732C>G (p.His244Gln) | ClinVar dbSNP |
| 22 | g.19764224C= | CA2396031067 | TBX1 | c.135C= (p.His45=) c.609C= (p.His203=) c.582C= (p.His194=) c.732C= (p.His244=) | dbSNP |
| 22 | g.19764224C>T | CA513361200 | TBX1 | c.135C>T (p.His45=) c.609C>T (p.His203=) c.582C>T (p.His194=) c.732C>T (p.His244=) | ClinVar dbSNP gnomAD v4 |