| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50529339T>G | CA127448 | DDC,FIGNL1 | c.439A>C (p.Ser147Arg) c.205A>C (p.Ser69Arg) c.213-1059A>C c.435+8521A>C (n.435+8521A>C) c.325A>C (p.Ser109Arg) n.238A>C c.-11+13179A>C (n.-11+13179A>C) c.88A>C (p.Ser30Arg) c.382A>C (p.Ser128Arg) | ClinVar dbSNP |
| 7 | g.50529339T= | CA1706649256 | DDC,FIGNL1 | c.439A= (p.Ser147=) c.205A= (p.Ser69=) c.213-1059A= c.435+8521A= (n.435+8521A=) c.325A= (p.Ser109=) n.238A= c.-11+13179A= (n.-11+13179A=) c.88A= (p.Ser30=) c.382A= (p.Ser128=) | dbSNP |