| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50495369A>G | CA127446 | DDC,FIGNL1 | c.925T>C (p.Phe309Leu) c.691T>C (p.Phe231Leu) c.567T>C c.646T>C (p.Phe216Leu) c.*26T>C (n.*26T>C) c.-11+47149T>C (n.-11+47149T>C) c.781T>C (p.Phe261Leu) c.811T>C (p.Phe271Leu) c.574T>C (p.Phe192Leu) c.868T>C (p.Phe290Leu) | ClinVar dbSNP |
| 7 | g.50495369A= | CA1706635412 | DDC,FIGNL1 | c.925T= (p.Phe309=) c.691T= (p.Phe231=) c.567T= c.646T= (p.Phe216=) c.*26T= (n.*26T=) c.-11+47149T= (n.-11+47149T=) c.781T= (p.Phe261=) c.811T= (p.Phe271=) c.574T= (p.Phe192=) c.868T= (p.Phe290=) | dbSNP |