| 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 |
| 22 | g.19765921G>C | CA410683779 | TBX1 | c.481G>C (p.Gly161Arg) c.955G>C (p.Gly319Arg) c.928G>C (p.Gly310Arg) n.123G>C c.1078G>C (p.Gly360Arg) c.283G>C (p.Gly95Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19765921G= | CA2396031944 | TBX1 | c.481G= (p.Gly161=) c.955G= (p.Gly319=) c.928G= (p.Gly310=) n.123G= c.1078G= (p.Gly360=) c.283G= (p.Gly95=) | dbSNP |