| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.95101721G>A | CA5137288 | AOPEP,FANCC | n.410+20941G>A n.2478C>T c.1663C>T (p.Arg555Ter) c.1808C>T (n.1808C>T) c.982C>T (p.Arg328Ter) c.1498C>T (p.Arg500Ter) c.1207C>T (p.Arg403Ter) c.2319+20941G>A (n.2319+20941G>A) c.1042C>T (p.Arg348Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.95101721G>T | CA5137287 | AOPEP,FANCC | n.410+20941G>T n.2478C>A c.1663C>A (p.Arg555=) c.1808C>A (n.1808C>A) c.982C>A (p.Arg328=) c.1498C>A (p.Arg500=) c.1207C>A (p.Arg403=) c.2319+20941G>T (n.2319+20941G>T) c.1042C>A (p.Arg348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |