| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.45931195A>G | CA214979 | FYCO1 | n.260T>C c.4127T>C (p.Leu1376Pro) c.493T>C c.140T>C (p.Leu47Pro) c.4187T>C (p.Leu1396Pro) n.4342T>C n.4223T>C c.4124T>C (p.Leu1375Pro) c.4007T>C (p.Leu1336Pro) c.3983T>C (p.Leu1328Pro) c.3527T>C (p.Leu1176Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.45931195A= | CA1361887543 | FYCO1 | n.260T= c.4127T= (p.Leu1376=) c.493T= c.140T= (p.Leu47=) c.4187T= (p.Leu1396=) n.4342T= n.4223T= c.4124T= (p.Leu1375=) c.4007T= (p.Leu1336=) c.3983T= (p.Leu1328=) c.3527T= (p.Leu1176=) | dbSNP |