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Germline Mutation Detail, Extrahepatic Cholangiocarcinoma
| Mutation | Transcript | Alteration | Penetrance | Age | Sex | Ethnicity | Personal History of Other Cancer | 1st Degree Family Hx | 2nd Degree Family Hx |
|---|---|---|---|---|---|---|---|---|---|
| APC | NM_000038 | c.3920T>A p.Ile1307Lys | Low | 57 | F | AJ | Y | Y | |
| BRCA1 | NM_007294 | c.2411_2412del (p.Gln804Leufs*5) | High | 68 | M | Asian | Y | ||
| FH* | NM_000143 | c.1431_1433dupAAA (p.Lys477dup) | Recessive | 64 | M | Caucasian | Y | Y | |
| MUTYH | NM_001128425 | c.312C>A (p.Tyr104*) | Low | 66 | F | Caucasian | Y | Y |
