| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19765069G>T | CA16621036 | TBX1 | c.349G>T (p.Glu117Ter) c.823G>T (p.Glu275Ter) c.796G>T (p.Glu266Ter) c.946G>T (p.Glu316Ter) c.97G>T (p.Glu33Ter) | ClinVar dbSNP |
| 22 | g.19765069G>C | CA10102564 | TBX1 | c.349G>C (p.Glu117Gln) c.823G>C (p.Glu275Gln) c.796G>C (p.Glu266Gln) c.946G>C (p.Glu316Gln) c.97G>C (p.Glu33Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19765069G>A | CA10102563 | TBX1 | c.349G>A (p.Glu117Lys) c.823G>A (p.Glu275Lys) c.796G>A (p.Glu266Lys) c.946G>A (p.Glu316Lys) c.97G>A (p.Glu33Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |