| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19765921G>A | CA254215 | TBX1 | c.481G>A (p.Gly161Ser) c.955G>A (p.Gly319Ser) c.928G>A (p.Gly310Ser) n.123G>A c.1078G>A (p.Gly360Ser) c.283G>A (p.Gly95Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19765921G>T | CA410683778 | TBX1 | c.481G>T (p.Gly161Cys) c.955G>T (p.Gly319Cys) c.928G>T (p.Gly310Cys) n.123G>T c.1078G>T (p.Gly360Cys) c.283G>T (p.Gly95Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |