Sample ID | RS | GENE | POS | REF | ALT | Clinical_significance_ENIGMA | HGVS_cDNA | REFERENCE |
---|---|---|---|---|---|---|---|---|
FUCAM29 | rs80357520 | BRCA1 | 41243787 | TTA | T | Pathogenic | c.3759_3760delTA | Villareal-Garza 2015 [8] |
FUCAM50 | rs41293455 | BRCA1 | 41234451 | G | A | Pathogenic | c.4327C>T | McKean-Cowdin 2005 [24] |
FUCAM53 | rs80357382 | BRCA1 | 41258474 | T | C | Pathogenic | c.211A>G | Rebbek 2016 [25] |
FUCAM56 | rs80357780 | BRCA1 | 41245250 | ACT | A | Pathogenic | c.2296_2297delAG | Weitzel 2005 [26] |
FUCAM65 | rs80357902 | BRCA1 | 41243899 | A | AT | Pathogenic | c.3648dupA | Lecarpentier 2012 [27] |
FUCAM75 | rs80357842 rs80357889 | BRCA1 | 41243686 | CCTCA | C | Pathogenic | c.3858_3861delTGAG | Kwong 2016 [28] |
FUCAM77 | rs80357914 | BRCA1 | 41276044 | A | ACT | Pathogenic | c.68_69delAG | Bolton 2012 [29] |
FUCAM1 | rs777107618 rs80359380 | BRCA2 | 32911755 | C | CT | Pathogenic | c.3264dupT | Susswein 2016 [29] |
FUCAM36 | rs41293513 | BRCA2 | 32937507 | A | G | Pathogenic | c.8168A>G | Guidugli 2013 [30] |
FUCAM40 | rs80359660 | BRCA2 | 32930683 | G | GC | Pathogenic | c.7556dupC | Borg 2010 [31] |
FUCAM48 | rs80359082 | BRCA2 | 32944584 | G | A | Pathogenic | c.8377G>A | Guidugli 2013 [30] |
FUCAM310 | rs80359082 | BRCA2 | 32944584 | G | A | Pathogenic | c.8377G>A | Guidugli 2013 [30] |
MLPA | ||||||||
FUCAM33 | BRCA1 | Ex9-12del | ||||||
FUCAM11 | BRCA1 | Ex9-11del | ||||||
FUCAM30 | BRCA1 | Ex12del | ||||||
FUCAM84 | BRCA2 | Ex1del | ||||||
FUCAM85 | BRCA2 | Ex23del | ||||||
FUCAM98 | BRCA2 | Ex1del | ||||||
FUCAM100 | BRCA2 | Ex17del | ||||||
FUCAM102 | BRCA2 | Ex23del | ||||||
FUCAM9 | BRCA2 | Ex22-24del | ||||||
FUCAM10 | BRCA2 | Ex22-24del | ||||||
FUCAM25 | BRCA2 | Ex11del | ||||||
FUCAM41 | BRCA2 | Ex26del | ||||||
FUCAM47 | BRCA2 | Ex1del |