| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95107101C>A | CA16041338 | AOPEP,FANCC | n.410+26321C>A n.2313G>T c.1498G>T (p.Gly500Ter) c.1643G>T (n.1643G>T) n.825G>T c.817G>T (p.Gly273Ter) c.1333G>T (p.Gly445Ter) c.1042G>T (p.Gly348Ter) c.2319+26321C>A (n.2319+26321C>A) c.877G>T (p.Gly293Ter) n.519C>A | ClinVar dbSNP |
| 9 | g.95107101C= | CA1865462130 | AOPEP,FANCC | n.410+26321C= n.2313G= c.1498G= (p.Gly500=) c.1643G= (n.1643G=) n.825G= c.817G= (p.Gly273=) c.1333G= (p.Gly445=) c.1042G= (p.Gly348=) c.2319+26321C= (n.2319+26321C=) c.877G= (p.Gly293=) n.519C= | dbSNP |
| 9 | g.95107101C>T | CA374105604 | AOPEP,FANCC | n.410+26321C>T n.2313G>A c.1498G>A (p.Gly500Arg) c.1643G>A (n.1643G>A) n.825G>A c.817G>A (p.Gly273Arg) c.1333G>A (p.Gly445Arg) c.1042G>A (p.Gly348Arg) c.2319+26321C>T (n.2319+26321C>T) c.877G>A (p.Gly293Arg) n.519C>T | ClinVar dbSNP gnomAD v4 |