| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95107266G>A | CA16041339 | AOPEP,FANCC | n.410+26486G>A n.2148C>T c.1333C>T (p.Gln445Ter) c.1478C>T (n.1478C>T) n.660C>T c.652C>T (p.Gln218Ter) c.1168C>T (p.Gln390Ter) c.877C>T (p.Gln293Ter) c.2319+26486G>A (n.2319+26486G>A) c.712C>T (p.Gln238Ter) n.684G>A | ClinVar dbSNP |
| 9 | g.95107266G>C | CA374106290 | AOPEP,FANCC | n.410+26486G>C n.2148C>G c.1333C>G (p.Gln445Glu) c.1478C>G (n.1478C>G) n.660C>G c.652C>G (p.Gln218Glu) c.1168C>G (p.Gln390Glu) c.877C>G (p.Gln293Glu) c.2319+26486G>C (n.2319+26486G>C) c.712C>G (p.Gln238Glu) n.684G>C | ClinVar dbSNP |
| 9 | g.95107266G= | CA1865462212 | AOPEP,FANCC | n.410+26486G= n.2148C= c.1333C= (p.Gln445=) c.1478C= (n.1478C=) n.660C= c.652C= (p.Gln218=) c.1168C= (p.Gln390=) c.877C= (p.Gln293=) c.2319+26486G= (n.2319+26486G=) c.712C= (p.Gln238=) n.684G= | dbSNP |