| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.140017766T>C | CA121723 | TBXAS1 | c.1460T>C (p.Leu487Pro) c.1364+1906T>C (n.1364+1906T>C) c.*1249T>C (n.*1249T>C) c.1598T>C (p.Leu533Pro) c.1463T>C (p.Leu488Pro) c.1367+1906T>C (n.1367+1906T>C) c.1601T>C (p.Leu534Pro) c.1259T>C (p.Leu420Pro) c.1403T>C (p.Leu468Pro) c.-4294965569T>C c.1277T>C (p.Leu426Pro) c.1205T>C (p.Leu402Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.140017766T= | CA1747366720 | TBXAS1 | c.1460T= (p.Leu487=) c.1364+1906T= (n.1364+1906T=) c.*1249T= (n.*1249T=) c.1598T= (p.Leu533=) c.1463T= (p.Leu488=) c.1367+1906T= (n.1367+1906T=) c.1601T= (p.Leu534=) c.1259T= (p.Leu420=) c.1403T= (p.Leu468=) c.-4294965569T= c.1277T= (p.Leu426=) c.1205T= (p.Leu402=) | dbSNP |