Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43044924_43051621delCA2580093785BRCA1c.5275-502_*756del
c.5278-502_*756del
c.5152-502_*756del
c.5272-502_*756del
c.5200-502_*756del
c.1966-502_*756del
c.1828-502_*756del
c.4390-502_*756del
c.5155-502_*756del
c.5137-502_*756del
c.5341-502_*756del
c.1852-502_*756del
c.1966-502_*862del
n.5414-502_6484del
n.5455-502_6525del
 ClinVar
17g.43045658_43051137delCA915940399BRCA1c.5275-20_*20del
c.5278-20_*20del
c.5152-20_*20del
c.5272-20_*20del
c.5200-20_*20del
c.1966-20_*20del
c.1828-20_*20del
c.4390-20_*20del
c.5155-20_*20del
c.5344-20_*20del
c.5137-20_*20del
c.1840-20_*20del
c.5341-20_*20del
c.1665-20_1999del
c.1852-20_*20del
c.1966-20_*126del
c.208-20_*20del
c.751-20_*20del
c.-98-947_*20del
n.5414-20_5748del
n.5455-20_5789del
17g.43045678_43051117delCA2581463401BRCA1c.5275_5589del
c.5278_5592del
c.5152_5466del
c.5272_5586del
c.5200_5514del
c.1966_2280del
c.1828_2142del
c.4390_4704del
c.5155_5469del
c.5344_5658del
c.5137_5451del
c.1840_2154del
c.5341_5655del
c.1665_1979del
c.1852_2166del
c.*5061_*5375del
c.1966_*106del
c.208_522del
c.751_1065del
c.-98-927_291del
n.5414_5728del
n.5455_5769del
17g.43047300_43054953dupCA16043343BRCA1c.5274+2100_5464+344dup
c.5277+2100_5467+344dup
c.5151+2100_5341+344dup
c.5271+2100_5461+344dup
c.5199+2100_5389+344dup
c.1965+2100_2155+344dup
c.1827+2100_2017+344dup
c.4389+2100_4579+344dup
c.5154+2100_5344+344dup
c.5343+2100_5533+344dup
c.5136+2100_5326+344dup
c.1839+2100_2029+344dup
c.5340+2100_5530+344dup
c.1664+2100_1854+344dup
c.1851+2100_2041+344dup
c.*5060+2100_*5250+344dup
c.1965+2100_2081+344dup
c.207+2100_397+344dup
c.750+2100_940+344dup
c.-98-4762_166+344dup
n.5413+2100_5603+344dup
n.5454+2100_5644+344dup
17g.43047831_43051609delinsCCACTATCTCTGCTCACTGCAACCTTCACCTCCCAAGTTCAAACCTTGTTCAATTCTTGTGCCTTGGCCTCCCAAGTGGCTAGGATTACAGGCATGTGCCACAACAACTAGCTAATTTTTTGTCTGATTCTGTTGGCCAGTCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGTCTCCAGCTCCCAGGTTCAAGTGATTCTCGTGCCTTAGCCTCCCAAATAGCTGGGATTACCA1139665550BRCA1c.5275-492_5404-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5278-492_5407-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5152-492_5281-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5272-492_5401-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5200-492_5329-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1966-492_2095-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1828-492_1957-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.4390-492_4519-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5155-492_5284-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5344-492_5473-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5137-492_5266-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1840-492_1969-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.5341-492_5470-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1665-492_1794-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1852-492_1981-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.*5061-492_*5190-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.1966-492_2021-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.208-492_337-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.751-492_880-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
c.-98-1419_106-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
n.5414-492_5543-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
n.5455-492_5584-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
 ClinVar
17g.43048600_43054827delCA913191183BRCA1c.5274+2249_5403+545del
c.5277+2249_5406+545del
c.5151+2249_5280+545del
c.5271+2249_5400+545del
c.5199+2249_5328+545del
c.1965+2249_2094+545del
c.1827+2249_1956+545del
c.4389+2249_4518+545del
c.5154+2249_5283+545del
c.5343+2249_5472+545del
c.5136+2249_5265+545del
c.1839+2249_1968+545del
c.5340+2249_5469+545del
c.1664+2249_1793+545del
c.1851+2249_1980+545del
c.*5060+2249_*5189+545del
c.1965+2249_2021-873del
c.207+2249_336+545del
c.750+2249_879+545del
c.-98-4613_105+545del
n.5413+2249_5542+545del
n.5454+2249_5583+545del
 ClinVar
17g.43051058_43051066delinsGCA658761197BRCA1c.5326_5329+5delinsC
c.5329_5332+5delinsC
c.5203_5206+5delinsC
c.5323_5326+5delinsC
c.5251_5254+5delinsC
c.2017_2020+5delinsC
c.1879_1882+5delinsC
c.4441_4444+5delinsC
c.5206_5209+5delinsC
c.5395_5398+5delinsC
c.5188_5191+5delinsC
c.1891_1894+5delinsC
c.5392_5395+5delinsC
c.1716_1719+5delinsC
c.1903_1906+5delinsC
c.*5112_*5115+5delinsC
c.259_262+5delinsC
c.802_805+5delinsC
c.-98-876_-98-868delinsC (n.-98-876_-98-868delinsC)
n.5465_5468+5delinsC
n.5506_5509+5delinsC
17g.43051058_43051071delCA2697559964BRCA1c.5321_5329+5del
c.5324_5332+5del
c.5198_5206+5del
c.5318_5326+5del
c.5246_5254+5del
c.2012_2020+5del
c.1874_1882+5del
c.4436_4444+5del
c.5201_5209+5del
c.5390_5398+5del
c.5183_5191+5del
c.1886_1894+5del
c.5387_5395+5del
c.1711_1719+5del
c.1898_1906+5del
c.*5107_*5115+5del
c.254_262+5del
c.797_805+5del
c.-98-881_-98-868del (n.-98-881_-98-868del)
n.5460_5468+5del
n.5501_5509+5del
 ClinVar
17g.43051061_43051084delinsACCTGTGGGCATGTTGGTGAAGGGCA2260763680BRCA1c.5308_5329+2delinsCCCTTCACCAACATGCCCACAGGT
c.5311_5332+2delinsCCCTTCACCAACATGCCCACAGGT
c.5185_5206+2delinsCCCTTCACCAACATGCCCACAGGT
c.5305_5326+2delinsCCCTTCACCAACATGCCCACAGGT
c.5233_5254+2delinsCCCTTCACCAACATGCCCACAGGT
c.1999_2020+2delinsCCCTTCACCAACATGCCCACAGGT
c.1861_1882+2delinsCCCTTCACCAACATGCCCACAGGT
c.4423_4444+2delinsCCCTTCACCAACATGCCCACAGGT
c.5188_5209+2delinsCCCTTCACCAACATGCCCACAGGT
c.5377_5398+2delinsCCCTTCACCAACATGCCCACAGGT
c.5170_5191+2delinsCCCTTCACCAACATGCCCACAGGT
c.1873_1894+2delinsCCCTTCACCAACATGCCCACAGGT
c.5374_5395+2delinsCCCTTCACCAACATGCCCACAGGT
c.1698_1719+2delinsCCCTTCACCAACATGCCCACAGGT
c.1885_1906+2delinsCCCTTCACCAACATGCCCACAGGT
c.*5094_*5115+2delinsCCCTTCACCAACATGCCCACAGGT
c.241_262+2delinsCCCTTCACCAACATGCCCACAGGT
c.784_805+2delinsCCCTTCACCAACATGCCCACAGGT
c.-98-894_-98-871delinsCCCTTCACCAACATGCCCACAGGT (n.-98-894_-98-871delinsCCCTTCACCAACATGCCCACAGGT)
n.5447_5468+2delinsCCCTTCACCAACATGCCCACAGGT
n.5488_5509+2delinsCCCTTCACCAACATGCCCACAGGT
17g.43051061_43051118delCA2499224356BRCA1c.5275-1_5329+2del
c.5278-1_5332+2del
c.5152-1_5206+2del
c.5272-1_5326+2del
c.5200-1_5254+2del
c.1966-1_2020+2del
c.1828-1_1882+2del
c.4390-1_4444+2del
c.5155-1_5209+2del
c.5344-1_5398+2del
c.5137-1_5191+2del
c.1840-1_1894+2del
c.5341-1_5395+2del
c.1665-1_1719+2del
c.1852-1_1906+2del
c.*5061-1_*5115+2del
c.208-1_262+2del
c.751-1_805+2del
c.-98-928_-98-871del (n.-98-928_-98-871del)
n.5414-1_5468+2del
n.5455-1_5509+2del
 ClinVar dbSNP
17g.43051064_43051086delCA10602574BRCA1c.5308_5329+1del
c.5311_5332+1del
c.5185_5206+1del
c.5305_5326+1del
c.5233_5254+1del
c.1999_2020+1del
c.1861_1882+1del
c.4423_4444+1del
c.5188_5209+1del
c.5377_5398+1del
c.5170_5191+1del
c.1873_1894+1del
c.5374_5395+1del
c.1698_1719+1del
c.1885_1906+1del
c.*5094_*5115+1del
c.241_262+1del
c.784_805+1del
c.-98-894_-98-872del (n.-98-894_-98-872del)
n.5447_5468+1del
n.5488_5509+1del
 ClinVar dbSNP
17g.43051062_43051116delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGACA2260763684BRCA1c.5276_5329+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5153_5206+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5273_5326+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5201_5254+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.1829_1882+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.4391_4444+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5156_5209+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5345_5398+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.1841_1894+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.1666_1719+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.1853_1906+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.*5062_*5115+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.209_262+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.752_805+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
c.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG (n.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG)
n.5415_5468+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
n.5456_5509+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG
17g.43051063_43051116delCA645373155BRCA1c.5276_5329del (p.Ile1759_Asp1777delinsAsn)
c.5279_5332del (p.Ile1760_Asp1778delinsAsn)
c.5153_5206del (p.Ile1718_Asp1736delinsAsn)
c.5273_5326del (p.Ile1758_Asp1776delinsAsn)
c.5201_5254del (p.Ile1734_Asp1752delinsAsn)
c.1967_2020del (p.Ile656_Asp674delinsAsn)
c.1829_1882del (p.Ile610_Asp628delinsAsn)
c.4391_4444del (p.Ile1464_Asp1482delinsAsn)
c.5156_5209del (p.Ile1719_Asp1737delinsAsn)
c.5345_5398del (p.Ile1782_Asp1800delinsAsn)
c.5138_5191del (p.Ile1713_Asp1731delinsAsn)
c.1841_1894del (p.Ile614_Asp632delinsAsn)
c.5342_5395del (p.Ile1781_Asp1799delinsAsn)
c.1666_1719del
c.1853_1906del (p.Ile618_Asp636delinsAsn)
c.*5062_*5115del (n.*5062_*5115del)
c.1967_2020del (p.Ile656_Gly674delinsArg)
c.209_262del (p.Ile70_Asp88delinsAsn)
c.752_805del (p.Ile251_Asp269delinsAsn)
c.-98-926_-98-873del (n.-98-926_-98-873del)
n.5415_5468del
n.5456_5509del
 ClinVar dbSNP
17g.43051066_43057138delCA2581463411BRCA1c.5191_5329del
c.5194_5332del
c.5068_5206del
c.5188_5326del
c.5116_5254del
c.1882_2020del
c.1744_1882del
c.4306_4444del
c.5071_5209del
c.5260_5398del
c.5053_5191del
c.1756_1894del
c.5257_5395del
c.1581_1719del
c.1768_1906del
c.*4977_*5115del
c.124_262del
c.667_805del
c.-98-6945_-98-873del (n.-98-6945_-98-873del)
n.5330_5468del
n.5371_5509del
17g.43051068_43051079delCA2573054435BRCA1c.5316_5327del (p.Asn1773_Thr1776del)
c.5319_5330del (p.Asn1774_Thr1777del)
c.5193_5204del (p.Asn1732_Thr1735del)
c.5313_5324del (p.Asn1772_Thr1775del)
c.5241_5252del (p.Asn1748_Thr1751del)
c.2007_2018del (p.Asn670_Thr673del)
c.1869_1880del (p.Asn624_Thr627del)
c.4431_4442del (p.Asn1478_Thr1481del)
c.5196_5207del (p.Asn1733_Thr1736del)
c.5385_5396del (p.Asn1796_Thr1799del)
c.5178_5189del (p.Asn1727_Thr1730del)
c.1881_1892del (p.Asn628_Thr631del)
c.5382_5393del (p.Asn1795_Thr1798del)
c.1706_1717del
c.1893_1904del (p.Asn632_Thr635del)
c.*5102_*5113del (n.*5102_*5113del)
c.249_260del (p.Asn84_Thr87del)
c.792_803del (p.Asn265_Thr268del)
c.-98-886_-98-875del (n.-98-886_-98-875del)
n.5455_5466del
n.5496_5507del
 ClinVar dbSNP
17g.43051066T>ACA10585906BRCA1c.5326A>T (p.Thr1776Ser)
c.5329A>T (p.Thr1777Ser)
c.5203A>T (p.Thr1735Ser)
c.5323A>T (p.Thr1775Ser)
c.5251A>T (p.Thr1751Ser)
c.2017A>T (p.Thr673Ser)
c.1879A>T (p.Thr627Ser)
c.4441A>T (p.Thr1481Ser)
c.5206A>T (p.Thr1736Ser)
c.5395A>T (p.Thr1799Ser)
c.5188A>T (p.Thr1730Ser)
c.1891A>T (p.Thr631Ser)
c.5392A>T (p.Thr1798Ser)
c.1716A>T
c.1903A>T (p.Thr635Ser)
c.*5112A>T (n.*5112A>T)
c.259A>T (p.Thr87Ser)
c.802A>T (p.Thr268Ser)
c.-98-876A>T (n.-98-876A>T)
n.5465A>T
n.5506A>T
 ClinVar dbSNP
17g.43051066T>CCA10590894BRCA1c.5326A>G (p.Thr1776Ala)
c.5329A>G (p.Thr1777Ala)
c.5203A>G (p.Thr1735Ala)
c.5323A>G (p.Thr1775Ala)
c.5251A>G (p.Thr1751Ala)
c.2017A>G (p.Thr673Ala)
c.1879A>G (p.Thr627Ala)
c.4441A>G (p.Thr1481Ala)
c.5206A>G (p.Thr1736Ala)
c.5395A>G (p.Thr1799Ala)
c.5188A>G (p.Thr1730Ala)
c.1891A>G (p.Thr631Ala)
c.5392A>G (p.Thr1798Ala)
c.1716A>G
c.1903A>G (p.Thr635Ala)
c.*5112A>G (n.*5112A>G)
c.259A>G (p.Thr87Ala)
c.802A>G (p.Thr268Ala)
c.-98-876A>G (n.-98-876A>G)
n.5465A>G
n.5506A>G
 ClinVar dbSNP
17g.43051066T>GCA10590895BRCA1c.5326A>C (p.Thr1776Pro)
c.5329A>C (p.Thr1777Pro)
c.5203A>C (p.Thr1735Pro)
c.5323A>C (p.Thr1775Pro)
c.5251A>C (p.Thr1751Pro)
c.2017A>C (p.Thr673Pro)
c.1879A>C (p.Thr627Pro)
c.4441A>C (p.Thr1481Pro)
c.5206A>C (p.Thr1736Pro)
c.5395A>C (p.Thr1799Pro)
c.5188A>C (p.Thr1730Pro)
c.1891A>C (p.Thr631Pro)
c.5392A>C (p.Thr1798Pro)
c.1716A>C
c.1903A>C (p.Thr635Pro)
c.*5112A>C (n.*5112A>C)
c.259A>C (p.Thr87Pro)
c.802A>C (p.Thr268Pro)
c.-98-876A>C (n.-98-876A>C)
n.5465A>C
n.5506A>C
 ClinVar dbSNP
17g.43051066T=CA2260763689BRCA1c.5326A= (p.Thr1776=)
c.5329A= (p.Thr1777=)
c.5203A= (p.Thr1735=)
c.5323A= (p.Thr1775=)
c.5251A= (p.Thr1751=)
c.2017A= (p.Thr673=)
c.1879A= (p.Thr627=)
c.4441A= (p.Thr1481=)
c.5206A= (p.Thr1736=)
c.5395A= (p.Thr1799=)
c.5188A= (p.Thr1730=)
c.1891A= (p.Thr631=)
c.5392A= (p.Thr1798=)
c.1716A=
c.1903A= (p.Thr635=)
c.*5112A= (n.*5112A=)
c.259A= (p.Thr87=)
c.802A= (p.Thr268=)
c.-98-876A= (n.-98-876A=)
n.5465A=
n.5506A=
17g.43051066_43051067delinsTGCA2260763690BRCA1c.5325_5326delinsCA (p.Pro1775=)
c.5328_5329delinsCA (p.Pro1776=)
c.5202_5203delinsCA (p.Pro1734=)
c.5322_5323delinsCA (p.Pro1774=)
c.5250_5251delinsCA (p.Pro1750=)
c.2016_2017delinsCA (p.Pro672=)
c.1878_1879delinsCA (p.Pro626=)
c.4440_4441delinsCA (p.Pro1480=)
c.5205_5206delinsCA (p.Pro1735=)
c.5394_5395delinsCA (p.Pro1798=)
c.5187_5188delinsCA (p.Pro1729=)
c.1890_1891delinsCA (p.Pro630=)
c.5391_5392delinsCA (p.Pro1797=)
c.1715_1716delinsCA
c.1902_1903delinsCA (p.Pro634=)
c.*5111_*5112delinsCA (n.*5111_*5112delinsCA)
c.258_259delinsCA (p.Pro86=)
c.801_802delinsCA (p.Pro267=)
c.-98-877_-98-876delinsCA (n.-98-877_-98-876delinsCA)
n.5464_5465delinsCA
n.5505_5506delinsCA
17g.43051067G>ACA003480BRCA1c.5325C>T (p.Pro1775=)
c.5328C>T (p.Pro1776=)
c.5202C>T (p.Pro1734=)
c.5322C>T (p.Pro1774=)
c.5250C>T (p.Pro1750=)
c.2016C>T (p.Pro672=)
c.1878C>T (p.Pro626=)
c.4440C>T (p.Pro1480=)
c.5205C>T (p.Pro1735=)
c.5394C>T (p.Pro1798=)
c.5187C>T (p.Pro1729=)
c.1890C>T (p.Pro630=)
c.5391C>T (p.Pro1797=)
c.1715C>T
c.1902C>T (p.Pro634=)
c.*5111C>T (n.*5111C>T)
c.258C>T (p.Pro86=)
c.801C>T (p.Pro267=)
c.-98-877C>T (n.-98-877C>T)
n.5464C>T
n.5505C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051067G>CCA500143579BRCA1c.5325C>G (p.Pro1775=)
c.5328C>G (p.Pro1776=)
c.5202C>G (p.Pro1734=)
c.5322C>G (p.Pro1774=)
c.5250C>G (p.Pro1750=)
c.2016C>G (p.Pro672=)
c.1878C>G (p.Pro626=)
c.4440C>G (p.Pro1480=)
c.5205C>G (p.Pro1735=)
c.5394C>G (p.Pro1798=)
c.5187C>G (p.Pro1729=)
c.1890C>G (p.Pro630=)
c.5391C>G (p.Pro1797=)
c.1715C>G
c.1902C>G (p.Pro634=)
c.*5111C>G (n.*5111C>G)
c.258C>G (p.Pro86=)
c.801C>G (p.Pro267=)
c.-98-877C>G (n.-98-877C>G)
n.5464C>G
n.5505C>G
 ClinVar dbSNP
17g.43051067G=CA2260763691BRCA1c.5325C= (p.Pro1775=)
c.5328C= (p.Pro1776=)
c.5202C= (p.Pro1734=)
c.5322C= (p.Pro1774=)
c.5250C= (p.Pro1750=)
c.2016C= (p.Pro672=)
c.1878C= (p.Pro626=)
c.4440C= (p.Pro1480=)
c.5205C= (p.Pro1735=)
c.5394C= (p.Pro1798=)
c.5187C= (p.Pro1729=)
c.1890C= (p.Pro630=)
c.5391C= (p.Pro1797=)
c.1715C=
c.1902C= (p.Pro634=)
c.*5111C= (n.*5111C=)
c.258C= (p.Pro86=)
c.801C= (p.Pro267=)
c.-98-877C= (n.-98-877C=)
n.5464C=
n.5505C=
17g.43051067G>TCA500143580BRCA1c.5325C>A (p.Pro1775=)
c.5328C>A (p.Pro1776=)
c.5202C>A (p.Pro1734=)
c.5322C>A (p.Pro1774=)
c.5250C>A (p.Pro1750=)
c.2016C>A (p.Pro672=)
c.1878C>A (p.Pro626=)
c.4440C>A (p.Pro1480=)
c.5205C>A (p.Pro1735=)
c.5394C>A (p.Pro1798=)
c.5187C>A (p.Pro1729=)
c.1890C>A (p.Pro630=)
c.5391C>A (p.Pro1797=)
c.1715C>A
c.1902C>A (p.Pro634=)
c.*5111C>A (n.*5111C>A)
c.258C>A (p.Pro86=)
c.801C>A (p.Pro267=)
c.-98-877C>A (n.-98-877C>A)
n.5464C>A
n.5505C>A
 ClinVar dbSNP
17g.43051069dupCA268388BRCA1c.5325dup (p.Thr1776HisfsTer?)
c.5328dup (p.Thr1777HisfsTer?)
c.5202dup (p.Thr1735HisfsTer?)
c.5322dup (p.Thr1775HisfsTer?)
c.5250dup (p.Thr1751HisfsTer?)
c.2016dup (p.Thr673HisfsTer?)
c.1878dup (p.Thr627HisfsTer?)
c.4440dup (p.Thr1481HisfsTer?)
c.5205dup (p.Thr1736HisfsTer?)
c.5394dup (p.Thr1799HisfsTer?)
c.5187dup (p.Thr1730HisfsTer?)
c.1890dup (p.Thr631HisfsTer?)
c.5391dup (p.Thr1798HisfsTer?)
c.1715dup
c.1902dup (p.Thr635HisfsTer?)
c.*5111dup (n.*5111dup)
c.258dup (p.Thr87HisfsTer?)
c.801dup (p.Thr268HisfsTer?)
c.-98-877dup (n.-98-877dup)
n.5464dup
n.5505dup
 ClinVar dbSNP
17g.43051068_43051069dupCA2582342184BRCA1c.5324_5325dup (p.Thr1776ProfsTer17)
c.5327_5328dup (p.Thr1777ProfsTer17)
c.5201_5202dup (p.Thr1735ProfsTer17)
c.5321_5322dup (p.Thr1775ProfsTer17)
c.5249_5250dup (p.Thr1751ProfsTer17)
c.2015_2016dup (p.Thr673ProfsTer17)
c.1877_1878dup (p.Thr627ProfsTer17)
c.4439_4440dup (p.Thr1481ProfsTer17)
c.5204_5205dup (p.Thr1736ProfsTer17)
c.5393_5394dup (p.Thr1799ProfsTer17)
c.5186_5187dup (p.Thr1730ProfsTer17)
c.1889_1890dup (p.Thr631ProfsTer17)
c.5390_5391dup (p.Thr1798ProfsTer17)
c.1714_1715dup
c.1901_1902dup (p.Thr635ProfsTer17)
c.*5110_*5111dup (n.*5110_*5111dup)
c.2015_2016dup (p.Thr673ProfsTer?)
c.257_258dup (p.Thr87ProfsTer17)
c.800_801dup (p.Thr268ProfsTer17)
c.-98-878_-98-877dup (n.-98-878_-98-877dup)
n.5463_5464dup
n.5504_5505dup
 ClinVar
17g.43051069delCA10580487BRCA1c.5325del (p.Thr1776GlnfsTer16)
c.5328del (p.Thr1777GlnfsTer16)
c.5202del (p.Thr1735GlnfsTer16)
c.5322del (p.Thr1775GlnfsTer16)
c.5250del (p.Thr1751GlnfsTer16)
c.2016del (p.Thr673GlnfsTer16)
c.1878del (p.Thr627GlnfsTer16)
c.4440del (p.Thr1481GlnfsTer16)
c.5205del (p.Thr1736GlnfsTer16)
c.5394del (p.Thr1799GlnfsTer16)
c.5187del (p.Thr1730GlnfsTer16)
c.1890del (p.Thr631GlnfsTer16)
c.5391del (p.Thr1798GlnfsTer16)
c.1715del
c.1902del (p.Thr635GlnfsTer16)
c.*5111del (n.*5111del)
c.2016del (p.Thr673GlnfsTer?)
c.258del (p.Thr87GlnfsTer16)
c.801del (p.Thr268GlnfsTer16)
c.-98-877del (n.-98-877del)
n.5464del
n.5505del
 ClinVar dbSNP
17g.43051068G>ACA003479BRCA1c.5324C>T (p.Pro1775Leu)
c.5327C>T (p.Pro1776Leu)
c.5201C>T (p.Pro1734Leu)
c.5321C>T (p.Pro1774Leu)
c.5249C>T (p.Pro1750Leu)
c.2015C>T (p.Pro672Leu)
c.1877C>T (p.Pro626Leu)
c.4439C>T (p.Pro1480Leu)
c.5204C>T (p.Pro1735Leu)
c.5393C>T (p.Pro1798Leu)
c.5186C>T (p.Pro1729Leu)
c.1889C>T (p.Pro630Leu)
c.5390C>T (p.Pro1797Leu)
c.1714C>T
c.1901C>T (p.Pro634Leu)
c.*5110C>T (n.*5110C>T)
c.257C>T (p.Pro86Leu)
c.800C>T (p.Pro267Leu)
c.-98-878C>T (n.-98-878C>T)
n.5463C>T
n.5504C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051068G>CCA10590896BRCA1c.5324C>G (p.Pro1775Arg)
c.5327C>G (p.Pro1776Arg)
c.5201C>G (p.Pro1734Arg)
c.5321C>G (p.Pro1774Arg)
c.5249C>G (p.Pro1750Arg)
c.2015C>G (p.Pro672Arg)
c.1877C>G (p.Pro626Arg)
c.4439C>G (p.Pro1480Arg)
c.5204C>G (p.Pro1735Arg)
c.5393C>G (p.Pro1798Arg)
c.5186C>G (p.Pro1729Arg)
c.1889C>G (p.Pro630Arg)
c.5390C>G (p.Pro1797Arg)
c.1714C>G
c.1901C>G (p.Pro634Arg)
c.*5110C>G (n.*5110C>G)
c.257C>G (p.Pro86Arg)
c.800C>G (p.Pro267Arg)
c.-98-878C>G (n.-98-878C>G)
n.5463C>G
n.5504C>G
 ClinVar dbSNP
17g.43051068G=CA2260763692BRCA1c.5324C= (p.Pro1775=)
c.5327C= (p.Pro1776=)
c.5201C= (p.Pro1734=)
c.5321C= (p.Pro1774=)
c.5249C= (p.Pro1750=)
c.2015C= (p.Pro672=)
c.1877C= (p.Pro626=)
c.4439C= (p.Pro1480=)
c.5204C= (p.Pro1735=)
c.5393C= (p.Pro1798=)
c.5186C= (p.Pro1729=)
c.1889C= (p.Pro630=)
c.5390C= (p.Pro1797=)
c.1714C=
c.1901C= (p.Pro634=)
c.*5110C= (n.*5110C=)
c.257C= (p.Pro86=)
c.800C= (p.Pro267=)
c.-98-878C= (n.-98-878C=)
n.5463C=
n.5504C=
17g.43051068G>TCA10584546BRCA1c.5324C>A (p.Pro1775His)
c.5327C>A (p.Pro1776His)
c.5201C>A (p.Pro1734His)
c.5321C>A (p.Pro1774His)
c.5249C>A (p.Pro1750His)
c.2015C>A (p.Pro672His)
c.1877C>A (p.Pro626His)
c.4439C>A (p.Pro1480His)
c.5204C>A (p.Pro1735His)
c.5393C>A (p.Pro1798His)
c.5186C>A (p.Pro1729His)
c.1889C>A (p.Pro630His)
c.5390C>A (p.Pro1797His)
c.1714C>A
c.1901C>A (p.Pro634His)
c.*5110C>A (n.*5110C>A)
c.257C>A (p.Pro86His)
c.800C>A (p.Pro267His)
c.-98-878C>A (n.-98-878C>A)
n.5463C>A
n.5504C>A
 ClinVar dbSNP gnomAD v4
17g.43051069G>ACA10590897BRCA1c.5323C>T (p.Pro1775Ser)
c.5326C>T (p.Pro1776Ser)
c.5200C>T (p.Pro1734Ser)
c.5320C>T (p.Pro1774Ser)
c.5248C>T (p.Pro1750Ser)
c.2014C>T (p.Pro672Ser)
c.1876C>T (p.Pro626Ser)
c.4438C>T (p.Pro1480Ser)
c.5203C>T (p.Pro1735Ser)
c.5392C>T (p.Pro1798Ser)
c.5185C>T (p.Pro1729Ser)
c.1888C>T (p.Pro630Ser)
c.5389C>T (p.Pro1797Ser)
c.1713C>T
c.1900C>T (p.Pro634Ser)
c.*5109C>T (n.*5109C>T)
c.256C>T (p.Pro86Ser)
c.799C>T (p.Pro267Ser)
c.-98-879C>T (n.-98-879C>T)
n.5462C>T
n.5503C>T
 ClinVar dbSNP
17g.43051069G>CCA10590898BRCA1c.5323C>G (p.Pro1775Ala)
c.5326C>G (p.Pro1776Ala)
c.5200C>G (p.Pro1734Ala)
c.5320C>G (p.Pro1774Ala)
c.5248C>G (p.Pro1750Ala)
c.2014C>G (p.Pro672Ala)
c.1876C>G (p.Pro626Ala)
c.4438C>G (p.Pro1480Ala)
c.5203C>G (p.Pro1735Ala)
c.5392C>G (p.Pro1798Ala)
c.5185C>G (p.Pro1729Ala)
c.1888C>G (p.Pro630Ala)
c.5389C>G (p.Pro1797Ala)
c.1713C>G
c.1900C>G (p.Pro634Ala)
c.*5109C>G (n.*5109C>G)
c.256C>G (p.Pro86Ala)
c.799C>G (p.Pro267Ala)
c.-98-879C>G (n.-98-879C>G)
n.5462C>G
n.5503C>G
 ClinVar dbSNP
17g.43051069G=CA2260763693BRCA1c.5323C= (p.Pro1775=)
c.5326C= (p.Pro1776=)
c.5200C= (p.Pro1734=)
c.5320C= (p.Pro1774=)
c.5248C= (p.Pro1750=)
c.2014C= (p.Pro672=)
c.1876C= (p.Pro626=)
c.4438C= (p.Pro1480=)
c.5203C= (p.Pro1735=)
c.5392C= (p.Pro1798=)
c.5185C= (p.Pro1729=)
c.1888C= (p.Pro630=)
c.5389C= (p.Pro1797=)
c.1713C=
c.1900C= (p.Pro634=)
c.*5109C= (n.*5109C=)
c.256C= (p.Pro86=)
c.799C= (p.Pro267=)
c.-98-879C= (n.-98-879C=)
n.5462C=
n.5503C=
17g.43051069G>TCA10590899BRCA1c.5323C>A (p.Pro1775Thr)
c.5326C>A (p.Pro1776Thr)
c.5200C>A (p.Pro1734Thr)
c.5320C>A (p.Pro1774Thr)
c.5248C>A (p.Pro1750Thr)
c.2014C>A (p.Pro672Thr)
c.1876C>A (p.Pro626Thr)
c.4438C>A (p.Pro1480Thr)
c.5203C>A (p.Pro1735Thr)
c.5392C>A (p.Pro1798Thr)
c.5185C>A (p.Pro1729Thr)
c.1888C>A (p.Pro630Thr)
c.5389C>A (p.Pro1797Thr)
c.1713C>A
c.1900C>A (p.Pro634Thr)
c.*5109C>A (n.*5109C>A)
c.256C>A (p.Pro86Thr)
c.799C>A (p.Pro267Thr)
c.-98-879C>A (n.-98-879C>A)
n.5462C>A
n.5503C>A
 ClinVar dbSNP
17g.43051070C>ACA10590900BRCA1c.5322G>T (p.Met1774Ile)
c.5325G>T (p.Met1775Ile)
c.5199G>T (p.Met1733Ile)
c.5319G>T (p.Met1773Ile)
c.5247G>T (p.Met1749Ile)
c.2013G>T (p.Met671Ile)
c.1875G>T (p.Met625Ile)
c.4437G>T (p.Met1479Ile)
c.5202G>T (p.Met1734Ile)
c.5391G>T (p.Met1797Ile)
c.5184G>T (p.Met1728Ile)
c.1887G>T (p.Met629Ile)
c.5388G>T (p.Met1796Ile)
c.1712G>T
c.1899G>T (p.Met633Ile)
c.*5108G>T (n.*5108G>T)
c.255G>T (p.Met85Ile)
c.798G>T (p.Met266Ile)
c.-98-880G>T (n.-98-880G>T)
n.5461G>T
n.5502G>T
 ClinVar dbSNP gnomAD v4
17g.43051070C=CA2260763695BRCA1c.5322G= (p.Met1774=)
c.5325G= (p.Met1775=)
c.5199G= (p.Met1733=)
c.5319G= (p.Met1773=)
c.5247G= (p.Met1749=)
c.2013G= (p.Met671=)
c.1875G= (p.Met625=)
c.4437G= (p.Met1479=)
c.5202G= (p.Met1734=)
c.5391G= (p.Met1797=)
c.5184G= (p.Met1728=)
c.1887G= (p.Met629=)
c.5388G= (p.Met1796=)
c.1712G=
c.1899G= (p.Met633=)
c.*5108G= (n.*5108G=)
c.255G= (p.Met85=)
c.798G= (p.Met266=)
c.-98-880G= (n.-98-880G=)
n.5461G=
n.5502G=
17g.43051070C>GCA10590901BRCA1c.5322G>C (p.Met1774Ile)
c.5325G>C (p.Met1775Ile)
c.5199G>C (p.Met1733Ile)
c.5319G>C (p.Met1773Ile)
c.5247G>C (p.Met1749Ile)
c.2013G>C (p.Met671Ile)
c.1875G>C (p.Met625Ile)
c.4437G>C (p.Met1479Ile)
c.5202G>C (p.Met1734Ile)
c.5391G>C (p.Met1797Ile)
c.5184G>C (p.Met1728Ile)
c.1887G>C (p.Met629Ile)
c.5388G>C (p.Met1796Ile)
c.1712G>C
c.1899G>C (p.Met633Ile)
c.*5108G>C (n.*5108G>C)
c.255G>C (p.Met85Ile)
c.798G>C (p.Met266Ile)
c.-98-880G>C (n.-98-880G>C)
n.5461G>C
n.5502G>C
 ClinVar dbSNP
17g.43051070C>TCA10590902BRCA1c.5322G>A (p.Met1774Ile)
c.5325G>A (p.Met1775Ile)
c.5199G>A (p.Met1733Ile)
c.5319G>A (p.Met1773Ile)
c.5247G>A (p.Met1749Ile)
c.2013G>A (p.Met671Ile)
c.1875G>A (p.Met625Ile)
c.4437G>A (p.Met1479Ile)
c.5202G>A (p.Met1734Ile)
c.5391G>A (p.Met1797Ile)
c.5184G>A (p.Met1728Ile)
c.1887G>A (p.Met629Ile)
c.5388G>A (p.Met1796Ile)
c.1712G>A
c.1899G>A (p.Met633Ile)
c.*5108G>A (n.*5108G>A)
c.255G>A (p.Met85Ile)
c.798G>A (p.Met266Ile)
c.-98-880G>A (n.-98-880G>A)
n.5461G>A
n.5502G>A
 ClinVar dbSNP
17g.43051070_43051072delinsCATCA2260763694BRCA1c.5320_5322delinsATG (p.Met1774=)
c.5323_5325delinsATG (p.Met1775=)
c.5197_5199delinsATG (p.Met1733=)
c.5317_5319delinsATG (p.Met1773=)
c.5245_5247delinsATG (p.Met1749=)
c.2011_2013delinsATG (p.Met671=)
c.1873_1875delinsATG (p.Met625=)
c.4435_4437delinsATG (p.Met1479=)
c.5200_5202delinsATG (p.Met1734=)
c.5389_5391delinsATG (p.Met1797=)
c.5182_5184delinsATG (p.Met1728=)
c.1885_1887delinsATG (p.Met629=)
c.5386_5388delinsATG (p.Met1796=)
c.1710_1712delinsATG
c.1897_1899delinsATG (p.Met633=)
c.*5106_*5108delinsATG (n.*5106_*5108delinsATG)
c.253_255delinsATG (p.Met85=)
c.796_798delinsATG (p.Met266=)
c.-98-882_-98-880delinsATG (n.-98-882_-98-880delinsATG)
n.5459_5461delinsATG
n.5500_5502delinsATG
17g.43051071A=CA2260763698BRCA1c.5321T= (p.Met1774=)
c.5324T= (p.Met1775=)
c.5198T= (p.Met1733=)
c.5318T= (p.Met1773=)
c.5246T= (p.Met1749=)
c.2012T= (p.Met671=)
c.1874T= (p.Met625=)
c.4436T= (p.Met1479=)
c.5201T= (p.Met1734=)
c.5390T= (p.Met1797=)
c.5183T= (p.Met1728=)
c.1886T= (p.Met629=)
c.5387T= (p.Met1796=)
c.1711T=
c.1898T= (p.Met633=)
c.*5107T= (n.*5107T=)
c.254T= (p.Met85=)
c.797T= (p.Met266=)
c.-98-881T= (n.-98-881T=)
n.5460T=
n.5501T=
17g.43051071A>CCA003478BRCA1c.5321T>G (p.Met1774Arg)
c.5324T>G (p.Met1775Arg)
c.5198T>G (p.Met1733Arg)
c.5318T>G (p.Met1773Arg)
c.5246T>G (p.Met1749Arg)
c.2012T>G (p.Met671Arg)
c.1874T>G (p.Met625Arg)
c.4436T>G (p.Met1479Arg)
c.5201T>G (p.Met1734Arg)
c.5390T>G (p.Met1797Arg)
c.5183T>G (p.Met1728Arg)
c.1886T>G (p.Met629Arg)
c.5387T>G (p.Met1796Arg)
c.1711T>G
c.1898T>G (p.Met633Arg)
c.*5107T>G (n.*5107T>G)
c.254T>G (p.Met85Arg)
c.797T>G (p.Met266Arg)
c.-98-881T>G (n.-98-881T>G)
n.5460T>G
n.5501T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43051071A>GCA10590903BRCA1c.5321T>C (p.Met1774Thr)
c.5324T>C (p.Met1775Thr)
c.5198T>C (p.Met1733Thr)
c.5318T>C (p.Met1773Thr)
c.5246T>C (p.Met1749Thr)
c.2012T>C (p.Met671Thr)
c.1874T>C (p.Met625Thr)
c.4436T>C (p.Met1479Thr)
c.5201T>C (p.Met1734Thr)
c.5390T>C (p.Met1797Thr)
c.5183T>C (p.Met1728Thr)
c.1886T>C (p.Met629Thr)
c.5387T>C (p.Met1796Thr)
c.1711T>C
c.1898T>C (p.Met633Thr)
c.*5107T>C (n.*5107T>C)
c.254T>C (p.Met85Thr)
c.797T>C (p.Met266Thr)
c.-98-881T>C (n.-98-881T>C)
n.5460T>C
n.5501T>C
 ClinVar dbSNP
17g.43051071A>TCA003476BRCA1c.5321T>A (p.Met1774Lys)
c.5324T>A (p.Met1775Lys)
c.5198T>A (p.Met1733Lys)
c.5318T>A (p.Met1773Lys)
c.5246T>A (p.Met1749Lys)
c.2012T>A (p.Met671Lys)
c.1874T>A (p.Met625Lys)
c.4436T>A (p.Met1479Lys)
c.5201T>A (p.Met1734Lys)
c.5390T>A (p.Met1797Lys)
c.5183T>A (p.Met1728Lys)
c.1886T>A (p.Met629Lys)
c.5387T>A (p.Met1796Lys)
c.1711T>A
c.1898T>A (p.Met633Lys)
c.*5107T>A (n.*5107T>A)
c.254T>A (p.Met85Lys)
c.797T>A (p.Met266Lys)
c.-98-881T>A (n.-98-881T>A)
n.5460T>A
n.5501T>A
 ClinVar dbSNP
17g.43051071_43051072delCA003475BRCA1c.5320_5321del (p.Met1774AlafsTer?)
c.5323_5324del (p.Met1775AlafsTer?)
c.5197_5198del (p.Met1733AlafsTer?)
c.5317_5318del (p.Met1773AlafsTer?)
c.5245_5246del (p.Met1749AlafsTer?)
c.2011_2012del (p.Met671AlafsTer?)
c.1873_1874del (p.Met625AlafsTer?)
c.4435_4436del (p.Met1479AlafsTer?)
c.5200_5201del (p.Met1734AlafsTer?)
c.5389_5390del (p.Met1797AlafsTer?)
c.5182_5183del (p.Met1728AlafsTer?)
c.1885_1886del (p.Met629AlafsTer?)
c.5386_5387del (p.Met1796AlafsTer?)
c.1710_1711del
c.1897_1898del (p.Met633AlafsTer?)
c.*5106_*5107del (n.*5106_*5107del)
c.253_254del (p.Met85AlafsTer?)
c.796_797del (p.Met266AlafsTer?)
c.-98-882_-98-881del (n.-98-882_-98-881del)
n.5459_5460del
n.5500_5501del
 ClinVar dbSNP
17g.43051072delCA2695226115BRCA1c.5320del (p.Met1774CysfsTer18)
c.5323del (p.Met1775CysfsTer18)
c.5197del (p.Met1733CysfsTer18)
c.5317del (p.Met1773CysfsTer18)
c.5245del (p.Met1749CysfsTer18)
c.2011del (p.Met671CysfsTer18)
c.1873del (p.Met625CysfsTer18)
c.4435del (p.Met1479CysfsTer18)
c.5200del (p.Met1734CysfsTer18)
c.5389del (p.Met1797CysfsTer18)
c.5182del (p.Met1728CysfsTer18)
c.1885del (p.Met629CysfsTer18)
c.5386del (p.Met1796CysfsTer18)
c.1710del
c.1897del (p.Met633CysfsTer18)
c.*5106del (n.*5106del)
c.2011del (p.Met671CysfsTer?)
c.253del (p.Met85CysfsTer18)
c.796del (p.Met266CysfsTer18)
c.-98-882del (n.-98-882del)
n.5459del
n.5500del
17g.43051072T>ACA10590904BRCA1c.5320A>T (p.Met1774Leu)
c.5323A>T (p.Met1775Leu)
c.5197A>T (p.Met1733Leu)
c.5317A>T (p.Met1773Leu)
c.5245A>T (p.Met1749Leu)
c.2011A>T (p.Met671Leu)
c.1873A>T (p.Met625Leu)
c.4435A>T (p.Met1479Leu)
c.5200A>T (p.Met1734Leu)
c.5389A>T (p.Met1797Leu)
c.5182A>T (p.Met1728Leu)
c.1885A>T (p.Met629Leu)
c.5386A>T (p.Met1796Leu)
c.1710A>T
c.1897A>T (p.Met633Leu)
c.*5106A>T (n.*5106A>T)
c.253A>T (p.Met85Leu)
c.796A>T (p.Met266Leu)
c.-98-882A>T (n.-98-882A>T)
n.5459A>T
n.5500A>T
 ClinVar dbSNP gnomAD v4
17g.43051072T>CCA10590905BRCA1c.5320A>G (p.Met1774Val)
c.5323A>G (p.Met1775Val)
c.5197A>G (p.Met1733Val)
c.5317A>G (p.Met1773Val)
c.5245A>G (p.Met1749Val)
c.2011A>G (p.Met671Val)
c.1873A>G (p.Met625Val)
c.4435A>G (p.Met1479Val)
c.5200A>G (p.Met1734Val)
c.5389A>G (p.Met1797Val)
c.5182A>G (p.Met1728Val)
c.1885A>G (p.Met629Val)
c.5386A>G (p.Met1796Val)
c.1710A>G
c.1897A>G (p.Met633Val)
c.*5106A>G (n.*5106A>G)
c.253A>G (p.Met85Val)
c.796A>G (p.Met266Val)
c.-98-882A>G (n.-98-882A>G)
n.5459A>G
n.5500A>G
 ClinVar dbSNP gnomAD v4
17g.43051072T>GCA10590906BRCA1c.5320A>C (p.Met1774Leu)
c.5323A>C (p.Met1775Leu)
c.5197A>C (p.Met1733Leu)
c.5317A>C (p.Met1773Leu)
c.5245A>C (p.Met1749Leu)
c.2011A>C (p.Met671Leu)
c.1873A>C (p.Met625Leu)
c.4435A>C (p.Met1479Leu)
c.5200A>C (p.Met1734Leu)
c.5389A>C (p.Met1797Leu)
c.5182A>C (p.Met1728Leu)
c.1885A>C (p.Met629Leu)
c.5386A>C (p.Met1796Leu)
c.1710A>C
c.1897A>C (p.Met633Leu)
c.*5106A>C (n.*5106A>C)
c.253A>C (p.Met85Leu)
c.796A>C (p.Met266Leu)
c.-98-882A>C (n.-98-882A>C)
n.5459A>C
n.5500A>C
 ClinVar dbSNP
17g.43051072T=CA2260763699BRCA1c.5320A= (p.Met1774=)
c.5323A= (p.Met1775=)
c.5197A= (p.Met1733=)
c.5317A= (p.Met1773=)
c.5245A= (p.Met1749=)
c.2011A= (p.Met671=)
c.1873A= (p.Met625=)
c.4435A= (p.Met1479=)
c.5200A= (p.Met1734=)
c.5389A= (p.Met1797=)
c.5182A= (p.Met1728=)
c.1885A= (p.Met629=)
c.5386A= (p.Met1796=)
c.1710A=
c.1897A= (p.Met633=)
c.*5106A= (n.*5106A=)
c.253A= (p.Met85=)
c.796A= (p.Met266=)
c.-98-882A= (n.-98-882A=)
n.5459A=
n.5500A=
17g.43051074_43051076delCA2638061048BRCA1c.5318_5320del (p.Asn1773del)
c.5321_5323del (p.Asn1774del)
c.5195_5197del (p.Asn1732del)
c.5315_5317del (p.Asn1772del)
c.5243_5245del (p.Asn1748del)
c.2009_2011del (p.Asn670del)
c.1871_1873del (p.Asn624del)
c.4433_4435del (p.Asn1478del)
c.5198_5200del (p.Asn1733del)
c.5387_5389del (p.Asn1796del)
c.5180_5182del (p.Asn1727del)
c.1883_1885del (p.Asn628del)
c.5384_5386del (p.Asn1795del)
c.1708_1710del
c.1895_1897del (p.Asn632del)
c.*5104_*5106del (n.*5104_*5106del)
c.251_253del (p.Asn84del)
c.794_796del (p.Asn265del)
c.-98-884_-98-882del (n.-98-884_-98-882del)
n.5457_5459del
n.5498_5500del
 gnomAD v4
17g.43051073G>ACA500143581BRCA1c.5319C>T (p.Asn1773=)
c.5322C>T (p.Asn1774=)
c.5196C>T (p.Asn1732=)
c.5316C>T (p.Asn1772=)
c.5244C>T (p.Asn1748=)
c.2010C>T (p.Asn670=)
c.1872C>T (p.Asn624=)
c.4434C>T (p.Asn1478=)
c.5199C>T (p.Asn1733=)
c.5388C>T (p.Asn1796=)
c.5181C>T (p.Asn1727=)
c.1884C>T (p.Asn628=)
c.5385C>T (p.Asn1795=)
c.1709C>T
c.1896C>T (p.Asn632=)
c.*5105C>T (n.*5105C>T)
c.252C>T (p.Asn84=)
c.795C>T (p.Asn265=)
c.-98-883C>T (n.-98-883C>T)
n.5458C>T
n.5499C>T
 ClinVar dbSNP
17g.43051073G>CCA10590907BRCA1c.5319C>G (p.Asn1773Lys)
c.5322C>G (p.Asn1774Lys)
c.5196C>G (p.Asn1732Lys)
c.5316C>G (p.Asn1772Lys)
c.5244C>G (p.Asn1748Lys)
c.2010C>G (p.Asn670Lys)
c.1872C>G (p.Asn624Lys)
c.4434C>G (p.Asn1478Lys)
c.5199C>G (p.Asn1733Lys)
c.5388C>G (p.Asn1796Lys)
c.5181C>G (p.Asn1727Lys)
c.1884C>G (p.Asn628Lys)
c.5385C>G (p.Asn1795Lys)
c.1709C>G
c.1896C>G (p.Asn632Lys)
c.*5105C>G (n.*5105C>G)
c.252C>G (p.Asn84Lys)
c.795C>G (p.Asn265Lys)
c.-98-883C>G (n.-98-883C>G)
n.5458C>G
n.5499C>G
 ClinVar dbSNP
17g.43051073G=CA2260763702BRCA1c.5319C= (p.Asn1773=)
c.5322C= (p.Asn1774=)
c.5196C= (p.Asn1732=)
c.5316C= (p.Asn1772=)
c.5244C= (p.Asn1748=)
c.2010C= (p.Asn670=)
c.1872C= (p.Asn624=)
c.4434C= (p.Asn1478=)
c.5199C= (p.Asn1733=)
c.5388C= (p.Asn1796=)
c.5181C= (p.Asn1727=)
c.1884C= (p.Asn628=)
c.5385C= (p.Asn1795=)
c.1709C=
c.1896C= (p.Asn632=)
c.*5105C= (n.*5105C=)
c.252C= (p.Asn84=)
c.795C= (p.Asn265=)
c.-98-883C= (n.-98-883C=)
n.5458C=
n.5499C=
17g.43051073G>TCA10590908BRCA1c.5319C>A (p.Asn1773Lys)
c.5322C>A (p.Asn1774Lys)
c.5196C>A (p.Asn1732Lys)
c.5316C>A (p.Asn1772Lys)
c.5244C>A (p.Asn1748Lys)
c.2010C>A (p.Asn670Lys)
c.1872C>A (p.Asn624Lys)
c.4434C>A (p.Asn1478Lys)
c.5199C>A (p.Asn1733Lys)
c.5388C>A (p.Asn1796Lys)
c.5181C>A (p.Asn1727Lys)
c.1884C>A (p.Asn628Lys)
c.5385C>A (p.Asn1795Lys)
c.1709C>A
c.1896C>A (p.Asn632Lys)
c.*5105C>A (n.*5105C>A)
c.252C>A (p.Asn84Lys)
c.795C>A (p.Asn265Lys)
c.-98-883C>A (n.-98-883C>A)
n.5458C>A
n.5499C>A
 ClinVar dbSNP
17g.43051073_43051075delinsGTTCA2260763701BRCA1c.5317_5319delinsAAC (p.Asn1773=)
c.5320_5322delinsAAC (p.Asn1774=)
c.5194_5196delinsAAC (p.Asn1732=)
c.5314_5316delinsAAC (p.Asn1772=)
c.5242_5244delinsAAC (p.Asn1748=)
c.2008_2010delinsAAC (p.Asn670=)
c.1870_1872delinsAAC (p.Asn624=)
c.4432_4434delinsAAC (p.Asn1478=)
c.5197_5199delinsAAC (p.Asn1733=)
c.5386_5388delinsAAC (p.Asn1796=)
c.5179_5181delinsAAC (p.Asn1727=)
c.1882_1884delinsAAC (p.Asn628=)
c.5383_5385delinsAAC (p.Asn1795=)
c.1707_1709delinsAAC
c.1894_1896delinsAAC (p.Asn632=)
c.*5103_*5105delinsAAC (n.*5103_*5105delinsAAC)
c.250_252delinsAAC (p.Asn84=)
c.793_795delinsAAC (p.Asn265=)
c.-98-885_-98-883delinsAAC (n.-98-885_-98-883delinsAAC)
n.5456_5458delinsAAC
n.5497_5499delinsAAC
17g.43051074T>ACA10590909BRCA1c.5318A>T (p.Asn1773Ile)
c.5321A>T (p.Asn1774Ile)
c.5195A>T (p.Asn1732Ile)
c.5315A>T (p.Asn1772Ile)
c.5243A>T (p.Asn1748Ile)
c.2009A>T (p.Asn670Ile)
c.1871A>T (p.Asn624Ile)
c.4433A>T (p.Asn1478Ile)
c.5198A>T (p.Asn1733Ile)
c.5387A>T (p.Asn1796Ile)
c.5180A>T (p.Asn1727Ile)
c.1883A>T (p.Asn628Ile)
c.5384A>T (p.Asn1795Ile)
c.1708A>T
c.1895A>T (p.Asn632Ile)
c.*5104A>T (n.*5104A>T)
c.251A>T (p.Asn84Ile)
c.794A>T (p.Asn265Ile)
c.-98-884A>T (n.-98-884A>T)
n.5457A>T
n.5498A>T
 ClinVar dbSNP
17g.43051074T>CCA003474BRCA1c.5318A>G (p.Asn1773Ser)
c.5321A>G (p.Asn1774Ser)
c.5195A>G (p.Asn1732Ser)
c.5315A>G (p.Asn1772Ser)
c.5243A>G (p.Asn1748Ser)
c.2009A>G (p.Asn670Ser)
c.1871A>G (p.Asn624Ser)
c.4433A>G (p.Asn1478Ser)
c.5198A>G (p.Asn1733Ser)
c.5387A>G (p.Asn1796Ser)
c.5180A>G (p.Asn1727Ser)
c.1883A>G (p.Asn628Ser)
c.5384A>G (p.Asn1795Ser)
c.1708A>G
c.1895A>G (p.Asn632Ser)
c.*5104A>G (n.*5104A>G)
c.251A>G (p.Asn84Ser)
c.794A>G (p.Asn265Ser)
c.-98-884A>G (n.-98-884A>G)
n.5457A>G
n.5498A>G
 ClinVar dbSNP
17g.43051074T>GCA10590910BRCA1c.5318A>C (p.Asn1773Thr)
c.5321A>C (p.Asn1774Thr)
c.5195A>C (p.Asn1732Thr)
c.5315A>C (p.Asn1772Thr)
c.5243A>C (p.Asn1748Thr)
c.2009A>C (p.Asn670Thr)
c.1871A>C (p.Asn624Thr)
c.4433A>C (p.Asn1478Thr)
c.5198A>C (p.Asn1733Thr)
c.5387A>C (p.Asn1796Thr)
c.5180A>C (p.Asn1727Thr)
c.1883A>C (p.Asn628Thr)
c.5384A>C (p.Asn1795Thr)
c.1708A>C
c.1895A>C (p.Asn632Thr)
c.*5104A>C (n.*5104A>C)
c.251A>C (p.Asn84Thr)
c.794A>C (p.Asn265Thr)
c.-98-884A>C (n.-98-884A>C)
n.5457A>C
n.5498A>C
 ClinVar dbSNP
17g.43051074T=CA2260763704BRCA1c.5318A= (p.Asn1773=)
c.5321A= (p.Asn1774=)
c.5195A= (p.Asn1732=)
c.5315A= (p.Asn1772=)
c.5243A= (p.Asn1748=)
c.2009A= (p.Asn670=)
c.1871A= (p.Asn624=)
c.4433A= (p.Asn1478=)
c.5198A= (p.Asn1733=)
c.5387A= (p.Asn1796=)
c.5180A= (p.Asn1727=)
c.1883A= (p.Asn628=)
c.5384A= (p.Asn1795=)
c.1708A=
c.1895A= (p.Asn632=)
c.*5104A= (n.*5104A=)
c.251A= (p.Asn84=)
c.794A= (p.Asn265=)
c.-98-884A= (n.-98-884A=)
n.5457A=
n.5498A=
17g.43051074_43051075delCA003473BRCA1c.5317_5318del (p.Asn1773HisfsTer?)
c.5320_5321del (p.Asn1774HisfsTer?)
c.5194_5195del (p.Asn1732HisfsTer?)
c.5314_5315del (p.Asn1772HisfsTer?)
c.5242_5243del (p.Asn1748HisfsTer?)
c.2008_2009del (p.Asn670HisfsTer?)
c.1870_1871del (p.Asn624HisfsTer?)
c.4432_4433del (p.Asn1478HisfsTer?)
c.5197_5198del (p.Asn1733HisfsTer?)
c.5386_5387del (p.Asn1796HisfsTer?)
c.5179_5180del (p.Asn1727HisfsTer?)
c.1882_1883del (p.Asn628HisfsTer?)
c.5383_5384del (p.Asn1795HisfsTer?)
c.1707_1708del
c.1894_1895del (p.Asn632HisfsTer?)
c.*5103_*5104del (n.*5103_*5104del)
c.250_251del (p.Asn84HisfsTer?)
c.793_794del (p.Asn265HisfsTer?)
c.-98-885_-98-884del (n.-98-885_-98-884del)
n.5456_5457del
n.5497_5498del
 ClinVar dbSNP
17g.43051075T>ACA10590911BRCA1c.5317A>T (p.Asn1773Tyr)
c.5320A>T (p.Asn1774Tyr)
c.5194A>T (p.Asn1732Tyr)
c.5314A>T (p.Asn1772Tyr)
c.5242A>T (p.Asn1748Tyr)
c.2008A>T (p.Asn670Tyr)
c.1870A>T (p.Asn624Tyr)
c.4432A>T (p.Asn1478Tyr)
c.5197A>T (p.Asn1733Tyr)
c.5386A>T (p.Asn1796Tyr)
c.5179A>T (p.Asn1727Tyr)
c.1882A>T (p.Asn628Tyr)
c.5383A>T (p.Asn1795Tyr)
c.1707A>T
c.1894A>T (p.Asn632Tyr)
c.*5103A>T (n.*5103A>T)
c.250A>T (p.Asn84Tyr)
c.793A>T (p.Asn265Tyr)
c.-98-885A>T (n.-98-885A>T)
n.5456A>T
n.5497A>T
 ClinVar dbSNP
17g.43051075T>CCA10590912BRCA1c.5317A>G (p.Asn1773Asp)
c.5320A>G (p.Asn1774Asp)
c.5194A>G (p.Asn1732Asp)
c.5314A>G (p.Asn1772Asp)
c.5242A>G (p.Asn1748Asp)
c.2008A>G (p.Asn670Asp)
c.1870A>G (p.Asn624Asp)
c.4432A>G (p.Asn1478Asp)
c.5197A>G (p.Asn1733Asp)
c.5386A>G (p.Asn1796Asp)
c.5179A>G (p.Asn1727Asp)
c.1882A>G (p.Asn628Asp)
c.5383A>G (p.Asn1795Asp)
c.1707A>G
c.1894A>G (p.Asn632Asp)
c.*5103A>G (n.*5103A>G)
c.250A>G (p.Asn84Asp)
c.793A>G (p.Asn265Asp)
c.-98-885A>G (n.-98-885A>G)
n.5456A>G
n.5497A>G
 ClinVar dbSNP
17g.43051075T>GCA10590913BRCA1c.5317A>C (p.Asn1773His)
c.5320A>C (p.Asn1774His)
c.5194A>C (p.Asn1732His)
c.5314A>C (p.Asn1772His)
c.5242A>C (p.Asn1748His)
c.2008A>C (p.Asn670His)
c.1870A>C (p.Asn624His)
c.4432A>C (p.Asn1478His)
c.5197A>C (p.Asn1733His)
c.5386A>C (p.Asn1796His)
c.5179A>C (p.Asn1727His)
c.1882A>C (p.Asn628His)
c.5383A>C (p.Asn1795His)
c.1707A>C
c.1894A>C (p.Asn632His)
c.*5103A>C (n.*5103A>C)
c.250A>C (p.Asn84His)
c.793A>C (p.Asn265His)
c.-98-885A>C (n.-98-885A>C)
n.5456A>C
n.5497A>C
 ClinVar dbSNP
17g.43051075T=CA2260763705BRCA1c.5317A= (p.Asn1773=)
c.5320A= (p.Asn1774=)
c.5194A= (p.Asn1732=)
c.5314A= (p.Asn1772=)
c.5242A= (p.Asn1748=)
c.2008A= (p.Asn670=)
c.1870A= (p.Asn624=)
c.4432A= (p.Asn1478=)
c.5197A= (p.Asn1733=)
c.5386A= (p.Asn1796=)
c.5179A= (p.Asn1727=)
c.1882A= (p.Asn628=)
c.5383A= (p.Asn1795=)
c.1707A=
c.1894A= (p.Asn632=)
c.*5103A= (n.*5103A=)
c.250A= (p.Asn84=)
c.793A= (p.Asn265=)
c.-98-885A= (n.-98-885A=)
n.5456A=
n.5497A=
17g.43051076G>ACA500143584BRCA1c.5316C>T (p.Thr1772=)
c.5319C>T (p.Thr1773=)
c.5193C>T (p.Thr1731=)
c.5313C>T (p.Thr1771=)
c.5241C>T (p.Thr1747=)
c.2007C>T (p.Thr669=)
c.1869C>T (p.Thr623=)
c.4431C>T (p.Thr1477=)
c.5196C>T (p.Thr1732=)
c.5385C>T (p.Thr1795=)
c.5178C>T (p.Thr1726=)
c.1881C>T (p.Thr627=)
c.5382C>T (p.Thr1794=)
c.1706C>T
c.1893C>T (p.Thr631=)
c.*5102C>T (n.*5102C>T)
c.249C>T (p.Thr83=)
c.792C>T (p.Thr264=)
c.-98-886C>T (n.-98-886C>T)
n.5455C>T
n.5496C>T
 ClinVar dbSNP
17g.43051076G>CCA500143582BRCA1c.5316C>G (p.Thr1772=)
c.5319C>G (p.Thr1773=)
c.5193C>G (p.Thr1731=)
c.5313C>G (p.Thr1771=)
c.5241C>G (p.Thr1747=)
c.2007C>G (p.Thr669=)
c.1869C>G (p.Thr623=)
c.4431C>G (p.Thr1477=)
c.5196C>G (p.Thr1732=)
c.5385C>G (p.Thr1795=)
c.5178C>G (p.Thr1726=)
c.1881C>G (p.Thr627=)
c.5382C>G (p.Thr1794=)
c.1706C>G
c.1893C>G (p.Thr631=)
c.*5102C>G (n.*5102C>G)
c.249C>G (p.Thr83=)
c.792C>G (p.Thr264=)
c.-98-886C>G (n.-98-886C>G)
n.5455C>G
n.5496C>G
 ClinVar dbSNP gnomAD v4
17g.43051076G=CA2260763707BRCA1c.5316C= (p.Thr1772=)
c.5319C= (p.Thr1773=)
c.5193C= (p.Thr1731=)
c.5313C= (p.Thr1771=)
c.5241C= (p.Thr1747=)
c.2007C= (p.Thr669=)
c.1869C= (p.Thr623=)
c.4431C= (p.Thr1477=)
c.5196C= (p.Thr1732=)
c.5385C= (p.Thr1795=)
c.5178C= (p.Thr1726=)
c.1881C= (p.Thr627=)
c.5382C= (p.Thr1794=)
c.1706C=
c.1893C= (p.Thr631=)
c.*5102C= (n.*5102C=)
c.249C= (p.Thr83=)
c.792C= (p.Thr264=)
c.-98-886C= (n.-98-886C=)
n.5455C=
n.5496C=
17g.43051076G>TCA500143583BRCA1c.5316C>A (p.Thr1772=)
c.5319C>A (p.Thr1773=)
c.5193C>A (p.Thr1731=)
c.5313C>A (p.Thr1771=)
c.5241C>A (p.Thr1747=)
c.2007C>A (p.Thr669=)
c.1869C>A (p.Thr623=)
c.4431C>A (p.Thr1477=)
c.5196C>A (p.Thr1732=)
c.5385C>A (p.Thr1795=)
c.5178C>A (p.Thr1726=)
c.1881C>A (p.Thr627=)
c.5382C>A (p.Thr1794=)
c.1706C>A
c.1893C>A (p.Thr631=)
c.*5102C>A (n.*5102C>A)
c.249C>A (p.Thr83=)
c.792C>A (p.Thr264=)
c.-98-886C>A (n.-98-886C>A)
n.5455C>A
n.5496C>A
 ClinVar dbSNP
17g.43051077dupCA003472BRCA1c.5316dup (p.Asn1773GlnfsTer?)
c.5319dup (p.Asn1774GlnfsTer?)
c.5193dup (p.Asn1732GlnfsTer?)
c.5313dup (p.Asn1772GlnfsTer?)
c.5241dup (p.Asn1748GlnfsTer?)
c.2007dup (p.Asn670GlnfsTer?)
c.1869dup (p.Asn624GlnfsTer?)
c.4431dup (p.Asn1478GlnfsTer?)
c.5196dup (p.Asn1733GlnfsTer?)
c.5385dup (p.Asn1796GlnfsTer?)
c.5178dup (p.Asn1727GlnfsTer?)
c.1881dup (p.Asn628GlnfsTer?)
c.5382dup (p.Asn1795GlnfsTer?)
c.1706dup
c.1893dup (p.Asn632GlnfsTer?)
c.*5102dup (n.*5102dup)
c.249dup (p.Asn84GlnfsTer?)
c.792dup (p.Asn265GlnfsTer?)
c.-98-886dup (n.-98-886dup)
n.5455dup
n.5496dup
 ClinVar dbSNP
17g.43051077delCA2733641847BRCA1c.5316del (p.Asn1773ThrfsTer19)
c.5319del (p.Asn1774ThrfsTer19)
c.5193del (p.Asn1732ThrfsTer19)
c.5313del (p.Asn1772ThrfsTer19)
c.5241del (p.Asn1748ThrfsTer19)
c.2007del (p.Asn670ThrfsTer19)
c.1869del (p.Asn624ThrfsTer19)
c.4431del (p.Asn1478ThrfsTer19)
c.5196del (p.Asn1733ThrfsTer19)
c.5385del (p.Asn1796ThrfsTer19)
c.5178del (p.Asn1727ThrfsTer19)
c.1881del (p.Asn628ThrfsTer19)
c.5382del (p.Asn1795ThrfsTer19)
c.1706del
c.1893del (p.Asn632ThrfsTer19)
c.*5102del (n.*5102del)
c.2007del (p.Asn670ThrfsTer?)
c.249del (p.Asn84ThrfsTer19)
c.792del (p.Asn265ThrfsTer19)
c.-98-886del (n.-98-886del)
n.5455del
n.5496del
 dbSNP
17g.43051077G>ACA003471BRCA1c.5315C>T (p.Thr1772Ile)
c.5318C>T (p.Thr1773Ile)
c.5192C>T (p.Thr1731Ile)
c.5312C>T (p.Thr1771Ile)
c.5240C>T (p.Thr1747Ile)
c.2006C>T (p.Thr669Ile)
c.1868C>T (p.Thr623Ile)
c.4430C>T (p.Thr1477Ile)
c.5195C>T (p.Thr1732Ile)
c.5384C>T (p.Thr1795Ile)
c.5177C>T (p.Thr1726Ile)
c.1880C>T (p.Thr627Ile)
c.5381C>T (p.Thr1794Ile)
c.1705C>T
c.1892C>T (p.Thr631Ile)
c.*5101C>T (n.*5101C>T)
c.248C>T (p.Thr83Ile)
c.791C>T (p.Thr264Ile)
c.-98-887C>T (n.-98-887C>T)
n.5454C>T
n.5495C>T
 ClinVar dbSNP gnomAD v4
17g.43051077G>CCA10590914BRCA1c.5315C>G (p.Thr1772Ser)
c.5318C>G (p.Thr1773Ser)
c.5192C>G (p.Thr1731Ser)
c.5312C>G (p.Thr1771Ser)
c.5240C>G (p.Thr1747Ser)
c.2006C>G (p.Thr669Ser)
c.1868C>G (p.Thr623Ser)
c.4430C>G (p.Thr1477Ser)
c.5195C>G (p.Thr1732Ser)
c.5384C>G (p.Thr1795Ser)
c.5177C>G (p.Thr1726Ser)
c.1880C>G (p.Thr627Ser)
c.5381C>G (p.Thr1794Ser)
c.1705C>G
c.1892C>G (p.Thr631Ser)
c.*5101C>G (n.*5101C>G)
c.248C>G (p.Thr83Ser)
c.791C>G (p.Thr264Ser)
c.-98-887C>G (n.-98-887C>G)
n.5454C>G
n.5495C>G
 ClinVar dbSNP
17g.43051077G=CA2260763710BRCA1c.5315C= (p.Thr1772=)
c.5318C= (p.Thr1773=)
c.5192C= (p.Thr1731=)
c.5312C= (p.Thr1771=)
c.5240C= (p.Thr1747=)
c.2006C= (p.Thr669=)
c.1868C= (p.Thr623=)
c.4430C= (p.Thr1477=)
c.5195C= (p.Thr1732=)
c.5384C= (p.Thr1795=)
c.5177C= (p.Thr1726=)
c.1880C= (p.Thr627=)
c.5381C= (p.Thr1794=)
c.1705C=
c.1892C= (p.Thr631=)
c.*5101C= (n.*5101C=)
c.248C= (p.Thr83=)
c.791C= (p.Thr264=)
c.-98-887C= (n.-98-887C=)
n.5454C=
n.5495C=
17g.43051077G>TCA10590915BRCA1c.5315C>A (p.Thr1772Asn)
c.5318C>A (p.Thr1773Asn)
c.5192C>A (p.Thr1731Asn)
c.5312C>A (p.Thr1771Asn)
c.5240C>A (p.Thr1747Asn)
c.2006C>A (p.Thr669Asn)
c.1868C>A (p.Thr623Asn)
c.4430C>A (p.Thr1477Asn)
c.5195C>A (p.Thr1732Asn)
c.5384C>A (p.Thr1795Asn)
c.5177C>A (p.Thr1726Asn)
c.1880C>A (p.Thr627Asn)
c.5381C>A (p.Thr1794Asn)
c.1705C>A
c.1892C>A (p.Thr631Asn)
c.*5101C>A (n.*5101C>A)
c.248C>A (p.Thr83Asn)
c.791C>A (p.Thr264Asn)
c.-98-887C>A (n.-98-887C>A)
n.5454C>A
n.5495C>A
 ClinVar dbSNP
17g.43051078T>ACA003470BRCA1c.5314A>T (p.Thr1772Ser)
c.5317A>T (p.Thr1773Ser)
c.5191A>T (p.Thr1731Ser)
c.5311A>T (p.Thr1771Ser)
c.5239A>T (p.Thr1747Ser)
c.2005A>T (p.Thr669Ser)
c.1867A>T (p.Thr623Ser)
c.4429A>T (p.Thr1477Ser)
c.5194A>T (p.Thr1732Ser)
c.5383A>T (p.Thr1795Ser)
c.5176A>T (p.Thr1726Ser)
c.1879A>T (p.Thr627Ser)
c.5380A>T (p.Thr1794Ser)
c.1704A>T
c.1891A>T (p.Thr631Ser)
c.*5100A>T (n.*5100A>T)
c.247A>T (p.Thr83Ser)
c.790A>T (p.Thr264Ser)
c.-98-888A>T (n.-98-888A>T)
n.5453A>T
n.5494A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051078T>CCA10590916BRCA1c.5314A>G (p.Thr1772Ala)
c.5317A>G (p.Thr1773Ala)
c.5191A>G (p.Thr1731Ala)
c.5311A>G (p.Thr1771Ala)
c.5239A>G (p.Thr1747Ala)
c.2005A>G (p.Thr669Ala)
c.1867A>G (p.Thr623Ala)
c.4429A>G (p.Thr1477Ala)
c.5194A>G (p.Thr1732Ala)
c.5383A>G (p.Thr1795Ala)
c.5176A>G (p.Thr1726Ala)
c.1879A>G (p.Thr627Ala)
c.5380A>G (p.Thr1794Ala)
c.1704A>G
c.1891A>G (p.Thr631Ala)
c.*5100A>G (n.*5100A>G)
c.247A>G (p.Thr83Ala)
c.790A>G (p.Thr264Ala)
c.-98-888A>G (n.-98-888A>G)
n.5453A>G
n.5494A>G
 ClinVar dbSNP
17g.43051078T>GCA10590917BRCA1c.5314A>C (p.Thr1772Pro)
c.5317A>C (p.Thr1773Pro)
c.5191A>C (p.Thr1731Pro)
c.5311A>C (p.Thr1771Pro)
c.5239A>C (p.Thr1747Pro)
c.2005A>C (p.Thr669Pro)
c.1867A>C (p.Thr623Pro)
c.4429A>C (p.Thr1477Pro)
c.5194A>C (p.Thr1732Pro)
c.5383A>C (p.Thr1795Pro)
c.5176A>C (p.Thr1726Pro)
c.1879A>C (p.Thr627Pro)
c.5380A>C (p.Thr1794Pro)
c.1704A>C
c.1891A>C (p.Thr631Pro)
c.*5100A>C (n.*5100A>C)
c.247A>C (p.Thr83Pro)
c.790A>C (p.Thr264Pro)
c.-98-888A>C (n.-98-888A>C)
n.5453A>C
n.5494A>C
 ClinVar dbSNP
17g.43051078T=CA2260763711BRCA1c.5314A= (p.Thr1772=)
c.5317A= (p.Thr1773=)
c.5191A= (p.Thr1731=)
c.5311A= (p.Thr1771=)
c.5239A= (p.Thr1747=)
c.2005A= (p.Thr669=)
c.1867A= (p.Thr623=)
c.4429A= (p.Thr1477=)
c.5194A= (p.Thr1732=)
c.5383A= (p.Thr1795=)
c.5176A= (p.Thr1726=)
c.1879A= (p.Thr627=)
c.5380A= (p.Thr1794=)
c.1704A=
c.1891A= (p.Thr631=)
c.*5100A= (n.*5100A=)
c.247A= (p.Thr83=)
c.790A= (p.Thr264=)
c.-98-888A= (n.-98-888A=)
n.5453A=
n.5494A=
17g.43051080_43051154delCA2825002513BRCA1c.5275-35_5314del
c.5278-35_5317del
c.5152-35_5191del
c.5272-35_5311del
c.5200-35_5239del
c.1966-35_2005del
c.1828-35_1867del
c.4390-35_4429del
c.5155-35_5194del
c.5344-35_5383del
c.5137-35_5176del
c.1840-35_1879del
c.5341-35_5380del
c.1665-35_1704del
c.1852-35_1891del
c.*5061-35_*5100del
c.208-35_247del
c.751-35_790del
c.-98-962_-98-888del (n.-98-962_-98-888del)
n.5414-35_5453del
n.5455-35_5494del
 ClinVar
17g.43051079G>ACA500143585BRCA1c.5313C>T (p.Phe1771=)
c.5316C>T (p.Phe1772=)
c.5190C>T (p.Phe1730=)
c.5310C>T (p.Phe1770=)
c.5238C>T (p.Phe1746=)
c.2004C>T (p.Phe668=)
c.1866C>T (p.Phe622=)
c.4428C>T (p.Phe1476=)
c.5193C>T (p.Phe1731=)
c.5382C>T (p.Phe1794=)
c.5175C>T (p.Phe1725=)
c.1878C>T (p.Phe626=)
c.5379C>T (p.Phe1793=)
c.1703C>T
c.1890C>T (p.Phe630=)
c.*5099C>T (n.*5099C>T)
c.246C>T (p.Phe82=)
c.789C>T (p.Phe263=)
c.-98-889C>T (n.-98-889C>T)
n.5452C>T
n.5493C>T
 ClinVar dbSNP
17g.43051079G>CCA10590918BRCA1c.5313C>G (p.Phe1771Leu)
c.5316C>G (p.Phe1772Leu)
c.5190C>G (p.Phe1730Leu)
c.5310C>G (p.Phe1770Leu)
c.5238C>G (p.Phe1746Leu)
c.2004C>G (p.Phe668Leu)
c.1866C>G (p.Phe622Leu)
c.4428C>G (p.Phe1476Leu)
c.5193C>G (p.Phe1731Leu)
c.5382C>G (p.Phe1794Leu)
c.5175C>G (p.Phe1725Leu)
c.1878C>G (p.Phe626Leu)
c.5379C>G (p.Phe1793Leu)
c.1703C>G
c.1890C>G (p.Phe630Leu)
c.*5099C>G (n.*5099C>G)
c.246C>G (p.Phe82Leu)
c.789C>G (p.Phe263Leu)
c.-98-889C>G (n.-98-889C>G)
n.5452C>G
n.5493C>G
17g.43051079G=CA2260763697BRCA1c.5313C= (p.Phe1771=)
c.5316C= (p.Phe1772=)
c.5190C= (p.Phe1730=)
c.5310C= (p.Phe1770=)
c.5238C= (p.Phe1746=)
c.2004C= (p.Phe668=)
c.1866C= (p.Phe622=)
c.4428C= (p.Phe1476=)
c.5193C= (p.Phe1731=)
c.5382C= (p.Phe1794=)
c.5175C= (p.Phe1725=)
c.1878C= (p.Phe626=)
c.5379C= (p.Phe1793=)
c.1703C=
c.1890C= (p.Phe630=)
c.*5099C= (n.*5099C=)
c.246C= (p.Phe82=)
c.789C= (p.Phe263=)
c.-98-889C= (n.-98-889C=)
n.5452C=
n.5493C=
17g.43051079G>TCA10590919BRCA1c.5313C>A (p.Phe1771Leu)
c.5316C>A (p.Phe1772Leu)
c.5190C>A (p.Phe1730Leu)
c.5310C>A (p.Phe1770Leu)
c.5238C>A (p.Phe1746Leu)
c.2004C>A (p.Phe668Leu)
c.1866C>A (p.Phe622Leu)
c.4428C>A (p.Phe1476Leu)
c.5193C>A (p.Phe1731Leu)
c.5382C>A (p.Phe1794Leu)
c.5175C>A (p.Phe1725Leu)
c.1878C>A (p.Phe626Leu)
c.5379C>A (p.Phe1793Leu)
c.1703C>A
c.1890C>A (p.Phe630Leu)
c.*5099C>A (n.*5099C>A)
c.246C>A (p.Phe82Leu)
c.789C>A (p.Phe263Leu)
c.-98-889C>A (n.-98-889C>A)
n.5452C>A
n.5493C>A
 ClinVar dbSNP
17g.43051079_43051080delinsGACA2260763696BRCA1c.5312_5313delinsTC (p.Phe1771=)
c.5315_5316delinsTC (p.Phe1772=)
c.5189_5190delinsTC (p.Phe1730=)
c.5309_5310delinsTC (p.Phe1770=)
c.5237_5238delinsTC (p.Phe1746=)
c.2003_2004delinsTC (p.Phe668=)
c.1865_1866delinsTC (p.Phe622=)
c.4427_4428delinsTC (p.Phe1476=)
c.5192_5193delinsTC (p.Phe1731=)
c.5381_5382delinsTC (p.Phe1794=)
c.5174_5175delinsTC (p.Phe1725=)
c.1877_1878delinsTC (p.Phe626=)
c.5378_5379delinsTC (p.Phe1793=)
c.1702_1703delinsTC
c.1889_1890delinsTC (p.Phe630=)
c.*5098_*5099delinsTC (n.*5098_*5099delinsTC)
c.245_246delinsTC (p.Phe82=)
c.788_789delinsTC (p.Phe263=)
c.-98-890_-98-889delinsTC (n.-98-890_-98-889delinsTC)
n.5451_5452delinsTC
n.5492_5493delinsTC
17g.43051080A=CA2260763700BRCA1c.5312T= (p.Phe1771=)
c.5315T= (p.Phe1772=)
c.5189T= (p.Phe1730=)
c.5309T= (p.Phe1770=)
c.5237T= (p.Phe1746=)
c.2003T= (p.Phe668=)
c.1865T= (p.Phe622=)
c.4427T= (p.Phe1476=)
c.5192T= (p.Phe1731=)
c.5381T= (p.Phe1794=)
c.5174T= (p.Phe1725=)
c.1877T= (p.Phe626=)
c.5378T= (p.Phe1793=)
c.1702T=
c.1889T= (p.Phe630=)
c.*5098T= (n.*5098T=)
c.245T= (p.Phe82=)
c.788T= (p.Phe263=)
c.-98-890T= (n.-98-890T=)
n.5451T=
n.5492T=
17g.43051080A>CCA10590920BRCA1c.5312T>G (p.Phe1771Cys)
c.5315T>G (p.Phe1772Cys)
c.5189T>G (p.Phe1730Cys)
c.5309T>G (p.Phe1770Cys)
c.5237T>G (p.Phe1746Cys)
c.2003T>G (p.Phe668Cys)
c.1865T>G (p.Phe622Cys)
c.4427T>G (p.Phe1476Cys)
c.5192T>G (p.Phe1731Cys)
c.5381T>G (p.Phe1794Cys)
c.5174T>G (p.Phe1725Cys)
c.1877T>G (p.Phe626Cys)
c.5378T>G (p.Phe1793Cys)
c.1702T>G
c.1889T>G (p.Phe630Cys)
c.*5098T>G (n.*5098T>G)
c.245T>G (p.Phe82Cys)
c.788T>G (p.Phe263Cys)
c.-98-890T>G (n.-98-890T>G)
n.5451T>G
n.5492T>G
 ClinVar dbSNP gnomAD v4
17g.43051080A>GCA10590921BRCA1c.5312T>C (p.Phe1771Ser)
c.5315T>C (p.Phe1772Ser)
c.5189T>C (p.Phe1730Ser)
c.5309T>C (p.Phe1770Ser)
c.5237T>C (p.Phe1746Ser)
c.2003T>C (p.Phe668Ser)
c.1865T>C (p.Phe622Ser)
c.4427T>C (p.Phe1476Ser)
c.5192T>C (p.Phe1731Ser)
c.5381T>C (p.Phe1794Ser)
c.5174T>C (p.Phe1725Ser)
c.1877T>C (p.Phe626Ser)
c.5378T>C (p.Phe1793Ser)
c.1702T>C
c.1889T>C (p.Phe630Ser)
c.*5098T>C (n.*5098T>C)
c.245T>C (p.Phe82Ser)
c.788T>C (p.Phe263Ser)
c.-98-890T>C (n.-98-890T>C)
n.5451T>C
n.5492T>C
 ClinVar dbSNP
17g.43051080A>TCA10590922BRCA1c.5312T>A (p.Phe1771Tyr)
c.5315T>A (p.Phe1772Tyr)
c.5189T>A (p.Phe1730Tyr)
c.5309T>A (p.Phe1770Tyr)
c.5237T>A (p.Phe1746Tyr)
c.2003T>A (p.Phe668Tyr)
c.1865T>A (p.Phe622Tyr)
c.4427T>A (p.Phe1476Tyr)
c.5192T>A (p.Phe1731Tyr)
c.5381T>A (p.Phe1794Tyr)
c.5174T>A (p.Phe1725Tyr)
c.1877T>A (p.Phe626Tyr)
c.5378T>A (p.Phe1793Tyr)
c.1702T>A
c.1889T>A (p.Phe630Tyr)
c.*5098T>A (n.*5098T>A)
c.245T>A (p.Phe82Tyr)
c.788T>A (p.Phe263Tyr)
c.-98-890T>A (n.-98-890T>A)
n.5451T>A
n.5492T>A
 ClinVar dbSNP
17g.43051081delCA003469BRCA1c.5312del (p.Phe1771SerfsTer21)
c.5315del (p.Phe1772SerfsTer21)
c.5189del (p.Phe1730SerfsTer21)
c.5309del (p.Phe1770SerfsTer21)
c.5237del (p.Phe1746SerfsTer21)
c.2003del (p.Phe668SerfsTer21)
c.1865del (p.Phe622SerfsTer21)
c.4427del (p.Phe1476SerfsTer21)
c.5192del (p.Phe1731SerfsTer21)
c.5381del (p.Phe1794SerfsTer21)
c.5174del (p.Phe1725SerfsTer21)
c.1877del (p.Phe626SerfsTer21)
c.5378del (p.Phe1793SerfsTer21)
c.1702del
c.1889del (p.Phe630SerfsTer21)
c.*5098del (n.*5098del)
c.2003del (p.Phe668SerfsTer?)
c.245del (p.Phe82SerfsTer21)
c.788del (p.Phe263SerfsTer21)
c.-98-890del (n.-98-890del)
n.5451del
n.5492del
 ClinVar dbSNP
17g.43051080_43051102dupCA645577431BRCA1c.5290_5312dup (p.Phe1771LeufsTer29)
c.5293_5315dup (p.Phe1772LeufsTer29)
c.5167_5189dup (p.Phe1730LeufsTer29)
c.5287_5309dup (p.Phe1770LeufsTer29)
c.5215_5237dup (p.Phe1746LeufsTer29)
c.1981_2003dup (p.Phe668LeufsTer29)
c.1843_1865dup (p.Phe622LeufsTer29)
c.4405_4427dup (p.Phe1476LeufsTer29)
c.5170_5192dup (p.Phe1731LeufsTer29)
c.5359_5381dup (p.Phe1794LeufsTer29)
c.5152_5174dup (p.Phe1725LeufsTer29)
c.1855_1877dup (p.Phe626LeufsTer29)
c.5356_5378dup (p.Phe1793LeufsTer29)
c.1680_1702dup
c.1867_1889dup (p.Phe630LeufsTer29)
c.*5076_*5098dup (n.*5076_*5098dup)
c.1981_2003dup (p.Phe668LeufsTer?)
c.223_245dup (p.Phe82LeufsTer29)
c.766_788dup (p.Phe263LeufsTer29)
c.-98-912_-98-890dup (n.-98-912_-98-890dup)
n.5429_5451dup
n.5470_5492dup
 COSMIC COSMIC
17g.43051081A=CA2260763703BRCA1c.5311T= (p.Phe1771=)
c.5314T= (p.Phe1772=)
c.5188T= (p.Phe1730=)
c.5308T= (p.Phe1770=)
c.5236T= (p.Phe1746=)
c.2002T= (p.Phe668=)
c.1864T= (p.Phe622=)
c.4426T= (p.Phe1476=)
c.5191T= (p.Phe1731=)
c.5380T= (p.Phe1794=)
c.5173T= (p.Phe1725=)
c.1876T= (p.Phe626=)
c.5377T= (p.Phe1793=)
c.1701T=
c.1888T= (p.Phe630=)
c.*5097T= (n.*5097T=)
c.244T= (p.Phe82=)
c.787T= (p.Phe263=)
c.-98-891T= (n.-98-891T=)
n.5450T=
n.5491T=
17g.43051081A>CCA10590923BRCA1c.5311T>G (p.Phe1771Val)
c.5314T>G (p.Phe1772Val)
c.5188T>G (p.Phe1730Val)
c.5308T>G (p.Phe1770Val)
c.5236T>G (p.Phe1746Val)
c.2002T>G (p.Phe668Val)
c.1864T>G (p.Phe622Val)
c.4426T>G (p.Phe1476Val)
c.5191T>G (p.Phe1731Val)
c.5380T>G (p.Phe1794Val)
c.5173T>G (p.Phe1725Val)
c.1876T>G (p.Phe626Val)
c.5377T>G (p.Phe1793Val)
c.1701T>G
c.1888T>G (p.Phe630Val)
c.*5097T>G (n.*5097T>G)
c.244T>G (p.Phe82Val)
c.787T>G (p.Phe263Val)
c.-98-891T>G (n.-98-891T>G)
n.5450T>G
n.5491T>G
 ClinVar dbSNP
17g.43051081A>GCA10590924BRCA1c.5311T>C (p.Phe1771Leu)
c.5314T>C (p.Phe1772Leu)
c.5188T>C (p.Phe1730Leu)
c.5308T>C (p.Phe1770Leu)
c.5236T>C (p.Phe1746Leu)
c.2002T>C (p.Phe668Leu)
c.1864T>C (p.Phe622Leu)
c.4426T>C (p.Phe1476Leu)
c.5191T>C (p.Phe1731Leu)
c.5380T>C (p.Phe1794Leu)
c.5173T>C (p.Phe1725Leu)
c.1876T>C (p.Phe626Leu)
c.5377T>C (p.Phe1793Leu)
c.1701T>C
c.1888T>C (p.Phe630Leu)
c.*5097T>C (n.*5097T>C)
c.244T>C (p.Phe82Leu)
c.787T>C (p.Phe263Leu)
c.-98-891T>C (n.-98-891T>C)
n.5450T>C
n.5491T>C
 ClinVar dbSNP
17g.43051081A>TCA10590925BRCA1c.5311T>A (p.Phe1771Ile)
c.5314T>A (p.Phe1772Ile)
c.5188T>A (p.Phe1730Ile)
c.5308T>A (p.Phe1770Ile)
c.5236T>A (p.Phe1746Ile)
c.2002T>A (p.Phe668Ile)
c.1864T>A (p.Phe622Ile)
c.4426T>A (p.Phe1476Ile)
c.5191T>A (p.Phe1731Ile)
c.5380T>A (p.Phe1794Ile)
c.5173T>A (p.Phe1725Ile)
c.1876T>A (p.Phe626Ile)
c.5377T>A (p.Phe1793Ile)
c.1701T>A
c.1888T>A (p.Phe630Ile)
c.*5097T>A (n.*5097T>A)
c.244T>A (p.Phe82Ile)
c.787T>A (p.Phe263Ile)
c.-98-891T>A (n.-98-891T>A)
n.5450T>A
n.5491T>A
 ClinVar dbSNP
17g.43051082G>ACA500143586BRCA1c.5310C>T (p.Pro1770=)
c.5313C>T (p.Pro1771=)
c.5187C>T (p.Pro1729=)
c.5307C>T (p.Pro1769=)
c.5235C>T (p.Pro1745=)
c.2001C>T (p.Pro667=)
c.1863C>T (p.Pro621=)
c.4425C>T (p.Pro1475=)
c.5190C>T (p.Pro1730=)
c.5379C>T (p.Pro1793=)
c.5172C>T (p.Pro1724=)
c.1875C>T (p.Pro625=)
c.5376C>T (p.Pro1792=)
c.1700C>T
c.1887C>T (p.Pro629=)
c.*5096C>T (n.*5096C>T)
c.243C>T (p.Pro81=)
c.786C>T (p.Pro262=)
c.-98-892C>T (n.-98-892C>T)
n.5449C>T
n.5490C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43051082G>CCA500143588BRCA1c.5310C>G (p.Pro1770=)
c.5313C>G (p.Pro1771=)
c.5187C>G (p.Pro1729=)
c.5307C>G (p.Pro1769=)
c.5235C>G (p.Pro1745=)
c.2001C>G (p.Pro667=)
c.1863C>G (p.Pro621=)
c.4425C>G (p.Pro1475=)
c.5190C>G (p.Pro1730=)
c.5379C>G (p.Pro1793=)
c.5172C>G (p.Pro1724=)
c.1875C>G (p.Pro625=)
c.5376C>G (p.Pro1792=)
c.1700C>G
c.1887C>G (p.Pro629=)
c.*5096C>G (n.*5096C>G)
c.243C>G (p.Pro81=)
c.786C>G (p.Pro262=)
c.-98-892C>G (n.-98-892C>G)
n.5449C>G
n.5490C>G
 ClinVar dbSNP
17g.43051082G=CA2260763706BRCA1c.5310C= (p.Pro1770=)
c.5313C= (p.Pro1771=)
c.5187C= (p.Pro1729=)
c.5307C= (p.Pro1769=)
c.5235C= (p.Pro1745=)
c.2001C= (p.Pro667=)
c.1863C= (p.Pro621=)
c.4425C= (p.Pro1475=)
c.5190C= (p.Pro1730=)
c.5379C= (p.Pro1793=)
c.5172C= (p.Pro1724=)
c.1875C= (p.Pro625=)
c.5376C= (p.Pro1792=)
c.1700C=
c.1887C= (p.Pro629=)
c.*5096C= (n.*5096C=)
c.243C= (p.Pro81=)
c.786C= (p.Pro262=)
c.-98-892C= (n.-98-892C=)
n.5449C=
n.5490C=
17g.43051082G>TCA500143587BRCA1c.5310C>A (p.Pro1770=)
c.5313C>A (p.Pro1771=)
c.5187C>A (p.Pro1729=)
c.5307C>A (p.Pro1769=)
c.5235C>A (p.Pro1745=)
c.2001C>A (p.Pro667=)
c.1863C>A (p.Pro621=)
c.4425C>A (p.Pro1475=)
c.5190C>A (p.Pro1730=)
c.5379C>A (p.Pro1793=)
c.5172C>A (p.Pro1724=)
c.1875C>A (p.Pro625=)
c.5376C>A (p.Pro1792=)
c.1700C>A
c.1887C>A (p.Pro629=)
c.*5096C>A (n.*5096C>A)
c.243C>A (p.Pro81=)
c.786C>A (p.Pro262=)
c.-98-892C>A (n.-98-892C>A)
n.5449C>A
n.5490C>A
 ClinVar dbSNP
17g.43051083G>ACA003467BRCA1c.5309C>T (p.Pro1770Leu)
c.5312C>T (p.Pro1771Leu)
c.5186C>T (p.Pro1729Leu)
c.5306C>T (p.Pro1769Leu)
c.5234C>T (p.Pro1745Leu)
c.2000C>T (p.Pro667Leu)
c.1862C>T (p.Pro621Leu)
c.4424C>T (p.Pro1475Leu)
c.5189C>T (p.Pro1730Leu)
c.5378C>T (p.Pro1793Leu)
c.5171C>T (p.Pro1724Leu)
c.1874C>T (p.Pro625Leu)
c.5375C>T (p.Pro1792Leu)
c.1699C>T
c.1886C>T (p.Pro629Leu)
c.*5095C>T (n.*5095C>T)
c.242C>T (p.Pro81Leu)
c.785C>T (p.Pro262Leu)
c.-98-893C>T (n.-98-893C>T)
n.5448C>T
n.5489C>T
 ClinVar dbSNP
17g.43051083G>CCA003466BRCA1c.5309C>G (p.Pro1770Arg)
c.5312C>G (p.Pro1771Arg)
c.5186C>G (p.Pro1729Arg)
c.5306C>G (p.Pro1769Arg)
c.5234C>G (p.Pro1745Arg)
c.2000C>G (p.Pro667Arg)
c.1862C>G (p.Pro621Arg)
c.4424C>G (p.Pro1475Arg)
c.5189C>G (p.Pro1730Arg)
c.5378C>G (p.Pro1793Arg)
c.5171C>G (p.Pro1724Arg)
c.1874C>G (p.Pro625Arg)
c.5375C>G (p.Pro1792Arg)
c.1699C>G
c.1886C>G (p.Pro629Arg)
c.*5095C>G (n.*5095C>G)
c.242C>G (p.Pro81Arg)
c.785C>G (p.Pro262Arg)
c.-98-893C>G (n.-98-893C>G)
n.5448C>G
n.5489C>G
 ClinVar dbSNP
17g.43051083G=CA2260763708BRCA1c.5309C= (p.Pro1770=)
c.5312C= (p.Pro1771=)
c.5186C= (p.Pro1729=)
c.5306C= (p.Pro1769=)
c.5234C= (p.Pro1745=)
c.2000C= (p.Pro667=)
c.1862C= (p.Pro621=)
c.4424C= (p.Pro1475=)
c.5189C= (p.Pro1730=)
c.5378C= (p.Pro1793=)
c.5171C= (p.Pro1724=)
c.1874C= (p.Pro625=)
c.5375C= (p.Pro1792=)
c.1699C=
c.1886C= (p.Pro629=)
c.*5095C= (n.*5095C=)
c.242C= (p.Pro81=)
c.785C= (p.Pro262=)
c.-98-893C= (n.-98-893C=)
n.5448C=
n.5489C=
17g.43051083G>TCA10590926BRCA1c.5309C>A (p.Pro1770His)
c.5312C>A (p.Pro1771His)
c.5186C>A (p.Pro1729His)
c.5306C>A (p.Pro1769His)
c.5234C>A (p.Pro1745His)
c.2000C>A (p.Pro667His)
c.1862C>A (p.Pro621His)
c.4424C>A (p.Pro1475His)
c.5189C>A (p.Pro1730His)
c.5378C>A (p.Pro1793His)
c.5171C>A (p.Pro1724His)
c.1874C>A (p.Pro625His)
c.5375C>A (p.Pro1792His)
c.1699C>A
c.1886C>A (p.Pro629His)
c.*5095C>A (n.*5095C>A)
c.242C>A (p.Pro81His)
c.785C>A (p.Pro262His)
c.-98-893C>A (n.-98-893C>A)
n.5448C>A
n.5489C>A
 ClinVar dbSNP
17g.43051083_43051085delinsGGCCA2260763709BRCA1c.5307_5309delinsGCC (p.Gly1769=)
c.5310_5312delinsGCC (p.Gly1770=)
c.5184_5186delinsGCC (p.Gly1728=)
c.5304_5306delinsGCC (p.Gly1768=)
c.5232_5234delinsGCC (p.Gly1744=)
c.1998_2000delinsGCC (p.Gly666=)
c.1860_1862delinsGCC (p.Gly620=)
c.4422_4424delinsGCC (p.Gly1474=)
c.5187_5189delinsGCC (p.Gly1729=)
c.5376_5378delinsGCC (p.Gly1792=)
c.5169_5171delinsGCC (p.Gly1723=)
c.1872_1874delinsGCC (p.Gly624=)
c.5373_5375delinsGCC (p.Gly1791=)
c.1697_1699delinsGCC
c.1884_1886delinsGCC (p.Gly628=)
c.*5093_*5095delinsGCC (n.*5093_*5095delinsGCC)
c.240_242delinsGCC (p.Gly80=)
c.783_785delinsGCC (p.Gly261=)
c.-98-895_-98-893delinsGCC (n.-98-895_-98-893delinsGCC)
n.5446_5448delinsGCC
n.5487_5489delinsGCC
17g.43051083_43051086dupCA2582342185BRCA1c.5306_5309dup (p.Phe1771AlafsTer?)
c.5309_5312dup (p.Phe1772AlafsTer?)
c.5183_5186dup (p.Phe1730AlafsTer?)
c.5303_5306dup (p.Phe1770AlafsTer?)
c.5231_5234dup (p.Phe1746AlafsTer?)
c.1997_2000dup (p.Phe668AlafsTer?)
c.1859_1862dup (p.Phe622AlafsTer?)
c.4421_4424dup (p.Phe1476AlafsTer?)
c.5186_5189dup (p.Phe1731AlafsTer?)
c.5375_5378dup (p.Phe1794AlafsTer?)
c.5168_5171dup (p.Phe1725AlafsTer?)
c.1871_1874dup (p.Phe626AlafsTer?)
c.5372_5375dup (p.Phe1793AlafsTer?)
c.1696_1699dup
c.1883_1886dup (p.Phe630AlafsTer?)
c.*5092_*5095dup (n.*5092_*5095dup)
c.239_242dup (p.Phe82AlafsTer?)
c.782_785dup (p.Phe263AlafsTer?)
c.-98-896_-98-893dup (n.-98-896_-98-893dup)
n.5445_5448dup
n.5486_5489dup
 ClinVar
17g.43051084G>ACA10590927BRCA1c.5308C>T (p.Pro1770Ser)
c.5311C>T (p.Pro1771Ser)
c.5185C>T (p.Pro1729Ser)
c.5305C>T (p.Pro1769Ser)
c.5233C>T (p.Pro1745Ser)
c.1999C>T (p.Pro667Ser)
c.1861C>T (p.Pro621Ser)
c.4423C>T (p.Pro1475Ser)
c.5188C>T (p.Pro1730Ser)
c.5377C>T (p.Pro1793Ser)
c.5170C>T (p.Pro1724Ser)
c.1873C>T (p.Pro625Ser)
c.5374C>T (p.Pro1792Ser)
c.1698C>T
c.1885C>T (p.Pro629Ser)
c.*5094C>T (n.*5094C>T)
c.241C>T (p.Pro81Ser)
c.784C>T (p.Pro262Ser)
c.-98-894C>T (n.-98-894C>T)
n.5447C>T
n.5488C>T
 ClinVar dbSNP
17g.43051084G>CCA054462BRCA1c.5308C>G (p.Pro1770Ala)
c.5311C>G (p.Pro1771Ala)
c.5185C>G (p.Pro1729Ala)
c.5305C>G (p.Pro1769Ala)
c.5233C>G (p.Pro1745Ala)
c.1999C>G (p.Pro667Ala)
c.1861C>G (p.Pro621Ala)
c.4423C>G (p.Pro1475Ala)
c.5188C>G (p.Pro1730Ala)
c.5377C>G (p.Pro1793Ala)
c.5170C>G (p.Pro1724Ala)
c.1873C>G (p.Pro625Ala)
c.5374C>G (p.Pro1792Ala)
c.1698C>G
c.1885C>G (p.Pro629Ala)
c.*5094C>G (n.*5094C>G)
c.241C>G (p.Pro81Ala)
c.784C>G (p.Pro262Ala)
c.-98-894C>G (n.-98-894C>G)
n.5447C>G
n.5488C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051084G=CA2260763712BRCA1c.5308C= (p.Pro1770=)
c.5311C= (p.Pro1771=)
c.5185C= (p.Pro1729=)
c.5305C= (p.Pro1769=)
c.5233C= (p.Pro1745=)
c.1999C= (p.Pro667=)
c.1861C= (p.Pro621=)
c.4423C= (p.Pro1475=)
c.5188C= (p.Pro1730=)
c.5377C= (p.Pro1793=)
c.5170C= (p.Pro1724=)
c.1873C= (p.Pro625=)
c.5374C= (p.Pro1792=)
c.1698C=
c.1885C= (p.Pro629=)
c.*5094C= (n.*5094C=)
c.241C= (p.Pro81=)
c.784C= (p.Pro262=)
c.-98-894C= (n.-98-894C=)
n.5447C=
n.5488C=
17g.43051084G>TCA10590928BRCA1c.5308C>A (p.Pro1770Thr)
c.5311C>A (p.Pro1771Thr)
c.5185C>A (p.Pro1729Thr)
c.5305C>A (p.Pro1769Thr)
c.5233C>A (p.Pro1745Thr)
c.1999C>A (p.Pro667Thr)
c.1861C>A (p.Pro621Thr)
c.4423C>A (p.Pro1475Thr)
c.5188C>A (p.Pro1730Thr)
c.5377C>A (p.Pro1793Thr)
c.5170C>A (p.Pro1724Thr)
c.1873C>A (p.Pro625Thr)
c.5374C>A (p.Pro1792Thr)
c.1698C>A
c.1885C>A (p.Pro629Thr)
c.*5094C>A (n.*5094C>A)
c.241C>A (p.Pro81Thr)
c.784C>A (p.Pro262Thr)
c.-98-894C>A (n.-98-894C>A)
n.5447C>A
n.5488C>A
 ClinVar dbSNP
17g.43051084_43051085delCA003463BRCA1c.5307_5308del (p.Pro1770LeufsTer?)
c.5310_5311del (p.Pro1771LeufsTer?)
c.5184_5185del (p.Pro1729LeufsTer?)
c.5304_5305del (p.Pro1769LeufsTer?)
c.5232_5233del (p.Pro1745LeufsTer?)
c.1998_1999del (p.Pro667LeufsTer?)
c.1860_1861del (p.Pro621LeufsTer?)
c.4422_4423del (p.Pro1475LeufsTer?)
c.5187_5188del (p.Pro1730LeufsTer?)
c.5376_5377del (p.Pro1793LeufsTer?)
c.5169_5170del (p.Pro1724LeufsTer?)
c.1872_1873del (p.Pro625LeufsTer?)
c.5373_5374del (p.Pro1792LeufsTer?)
c.1697_1698del
c.1884_1885del (p.Pro629LeufsTer?)
c.*5093_*5094del (n.*5093_*5094del)
c.240_241del (p.Pro81LeufsTer?)
c.783_784del (p.Pro262LeufsTer?)
c.-98-895_-98-894del (n.-98-895_-98-894del)
n.5446_5447del
n.5487_5488del
 ClinVar dbSNP
17g.43051084_43051085delinsGCCA2260763713BRCA1c.5307_5308delinsGC (p.Gly1769=)
c.5310_5311delinsGC (p.Gly1770=)
c.5184_5185delinsGC (p.Gly1728=)
c.5304_5305delinsGC (p.Gly1768=)
c.5232_5233delinsGC (p.Gly1744=)
c.1998_1999delinsGC (p.Gly666=)
c.1860_1861delinsGC (p.Gly620=)
c.4422_4423delinsGC (p.Gly1474=)
c.5187_5188delinsGC (p.Gly1729=)
c.5376_5377delinsGC (p.Gly1792=)
c.5169_5170delinsGC (p.Gly1723=)
c.1872_1873delinsGC (p.Gly624=)
c.5373_5374delinsGC (p.Gly1791=)
c.1697_1698delinsGC
c.1884_1885delinsGC (p.Gly628=)
c.*5093_*5094delinsGC (n.*5093_*5094delinsGC)
c.240_241delinsGC (p.Gly80=)
c.783_784delinsGC (p.Gly261=)
c.-98-895_-98-894delinsGC (n.-98-895_-98-894delinsGC)
n.5446_5447delinsGC
n.5487_5488delinsGC
17g.43051085C>ACA500143589BRCA1c.5307G>T (p.Gly1769=)
c.5310G>T (p.Gly1770=)
c.5184G>T (p.Gly1728=)
c.5304G>T (p.Gly1768=)
c.5232G>T (p.Gly1744=)
c.1998G>T (p.Gly666=)
c.1860G>T (p.Gly620=)
c.4422G>T (p.Gly1474=)
c.5187G>T (p.Gly1729=)
c.5376G>T (p.Gly1792=)
c.5169G>T (p.Gly1723=)
c.1872G>T (p.Gly624=)
c.5373G>T (p.Gly1791=)
c.1697G>T
c.1884G>T (p.Gly628=)
c.*5093G>T (n.*5093G>T)
c.240G>T (p.Gly80=)
c.783G>T (p.Gly261=)
c.-98-895G>T (n.-98-895G>T)
n.5446G>T
n.5487G>T
 ClinVar dbSNP
17g.43051085C=CA2260763714BRCA1c.5307G= (p.Gly1769=)
c.5310G= (p.Gly1770=)
c.5184G= (p.Gly1728=)
c.5304G= (p.Gly1768=)
c.5232G= (p.Gly1744=)
c.1998G= (p.Gly666=)
c.1860G= (p.Gly620=)
c.4422G= (p.Gly1474=)
c.5187G= (p.Gly1729=)
c.5376G= (p.Gly1792=)
c.5169G= (p.Gly1723=)
c.1872G= (p.Gly624=)
c.5373G= (p.Gly1791=)
c.1697G=
c.1884G= (p.Gly628=)
c.*5093G= (n.*5093G=)
c.240G= (p.Gly80=)
c.783G= (p.Gly261=)
c.-98-895G= (n.-98-895G=)
n.5446G=
n.5487G=
17g.43051085C>GCA054451BRCA1c.5307G>C (p.Gly1769=)
c.5310G>C (p.Gly1770=)
c.5184G>C (p.Gly1728=)
c.5304G>C (p.Gly1768=)
c.5232G>C (p.Gly1744=)
c.1998G>C (p.Gly666=)
c.1860G>C (p.Gly620=)
c.4422G>C (p.Gly1474=)
c.5187G>C (p.Gly1729=)
c.5376G>C (p.Gly1792=)
c.5169G>C (p.Gly1723=)
c.1872G>C (p.Gly624=)
c.5373G>C (p.Gly1791=)
c.1697G>C
c.1884G>C (p.Gly628=)
c.*5093G>C (n.*5093G>C)
c.240G>C (p.Gly80=)
c.783G>C (p.Gly261=)
c.-98-895G>C (n.-98-895G>C)
n.5446G>C
n.5487G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051085C>TCA003465BRCA1c.5307G>A (p.Gly1769=)
c.5310G>A (p.Gly1770=)
c.5184G>A (p.Gly1728=)
c.5304G>A (p.Gly1768=)
c.5232G>A (p.Gly1744=)
c.1998G>A (p.Gly666=)
c.1860G>A (p.Gly620=)
c.4422G>A (p.Gly1474=)
c.5187G>A (p.Gly1729=)
c.5376G>A (p.Gly1792=)
c.5169G>A (p.Gly1723=)
c.1872G>A (p.Gly624=)
c.5373G>A (p.Gly1791=)
c.1697G>A
c.1884G>A (p.Gly628=)
c.*5093G>A (n.*5093G>A)
c.240G>A (p.Gly80=)
c.783G>A (p.Gly261=)
c.-98-895G>A (n.-98-895G>A)
n.5446G>A
n.5487G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051085_43051086delinsAACA2695226117BRCA1c.5306_5307delinsTT (p.Gly1769Val)
c.5309_5310delinsTT (p.Gly1770Val)
c.5183_5184delinsTT (p.Gly1728Val)
c.5303_5304delinsTT (p.Gly1768Val)
c.5231_5232delinsTT (p.Gly1744Val)
c.1997_1998delinsTT (p.Gly666Val)
c.1859_1860delinsTT (p.Gly620Val)
c.4421_4422delinsTT (p.Gly1474Val)
c.5186_5187delinsTT (p.Gly1729Val)
c.5375_5376delinsTT (p.Gly1792Val)
c.5168_5169delinsTT (p.Gly1723Val)
c.1871_1872delinsTT (p.Gly624Val)
c.5372_5373delinsTT (p.Gly1791Val)
c.1696_1697delinsTT
c.1883_1884delinsTT (p.Gly628Val)
c.*5092_*5093delinsTT (n.*5092_*5093delinsTT)
c.239_240delinsTT (p.Gly80Val)
c.782_783delinsTT (p.Gly261Val)
c.-98-896_-98-895delinsTT (n.-98-896_-98-895delinsTT)
n.5445_5446delinsTT
n.5486_5487delinsTT
17g.43051087dupCA327998BRCA1c.5307dup (p.Pro1770AlafsTer?)
c.5310dup (p.Pro1771AlafsTer?)
c.5184dup (p.Pro1729AlafsTer?)
c.5304dup (p.Pro1769AlafsTer?)
c.5232dup (p.Pro1745AlafsTer?)
c.1998dup (p.Pro667AlafsTer?)
c.1860dup (p.Pro621AlafsTer?)
c.4422dup (p.Pro1475AlafsTer?)
c.5187dup (p.Pro1730AlafsTer?)
c.5376dup (p.Pro1793AlafsTer?)
c.5169dup (p.Pro1724AlafsTer?)
c.1872dup (p.Pro625AlafsTer?)
c.5373dup (p.Pro1792AlafsTer?)
c.1697dup
c.1884dup (p.Pro629AlafsTer?)
c.*5093dup (n.*5093dup)
c.240dup (p.Pro81AlafsTer?)
c.783dup (p.Pro262AlafsTer?)
c.-98-895dup (n.-98-895dup)
n.5446dup
n.5487dup
 ClinVar dbSNP
17g.43051087delCA003461BRCA1c.5307del (p.Phe1771SerfsTer21)
c.5310del (p.Phe1772SerfsTer21)
c.5184del (p.Phe1730SerfsTer21)
c.5304del (p.Phe1770SerfsTer21)
c.5232del (p.Phe1746SerfsTer21)
c.1998del (p.Phe668SerfsTer21)
c.1860del (p.Phe622SerfsTer21)
c.4422del (p.Phe1476SerfsTer21)
c.5187del (p.Phe1731SerfsTer21)
c.5376del (p.Phe1794SerfsTer21)
c.5169del (p.Phe1725SerfsTer21)
c.1872del (p.Phe626SerfsTer21)
c.5373del (p.Phe1793SerfsTer21)
c.1697del
c.1884del (p.Phe630SerfsTer21)
c.*5093del (n.*5093del)
c.1998del (p.Phe668SerfsTer?)
c.240del (p.Phe82SerfsTer21)
c.783del (p.Phe263SerfsTer21)
c.-98-895del (n.-98-895del)
n.5446del
n.5487del
 ClinVar dbSNP gnomAD v4
17g.43051086C>ACA10590929BRCA1c.5306G>T (p.Gly1769Val)
c.5309G>T (p.Gly1770Val)
c.5183G>T (p.Gly1728Val)
c.5303G>T (p.Gly1768Val)
c.5231G>T (p.Gly1744Val)
c.1997G>T (p.Gly666Val)
c.1859G>T (p.Gly620Val)
c.4421G>T (p.Gly1474Val)
c.5186G>T (p.Gly1729Val)
c.5375G>T (p.Gly1792Val)
c.5168G>T (p.Gly1723Val)
c.1871G>T (p.Gly624Val)
c.5372G>T (p.Gly1791Val)
c.1696G>T
c.1883G>T (p.Gly628Val)
c.*5092G>T (n.*5092G>T)
c.239G>T (p.Gly80Val)
c.782G>T (p.Gly261Val)
c.-98-896G>T (n.-98-896G>T)
n.5445G>T
n.5486G>T
 ClinVar dbSNP gnomAD v4
17g.43051086C=CA2260763715BRCA1c.5306G= (p.Gly1769=)
c.5309G= (p.Gly1770=)
c.5183G= (p.Gly1728=)
c.5303G= (p.Gly1768=)
c.5231G= (p.Gly1744=)
c.1997G= (p.Gly666=)
c.1859G= (p.Gly620=)
c.4421G= (p.Gly1474=)
c.5186G= (p.Gly1729=)
c.5375G= (p.Gly1792=)
c.5168G= (p.Gly1723=)
c.1871G= (p.Gly624=)
c.5372G= (p.Gly1791=)
c.1696G=
c.1883G= (p.Gly628=)
c.*5092G= (n.*5092G=)
c.239G= (p.Gly80=)
c.782G= (p.Gly261=)
c.-98-896G= (n.-98-896G=)
n.5445G=
n.5486G=
17g.43051086C>GCA338563BRCA1c.5306G>C (p.Gly1769Ala)
c.5309G>C (p.Gly1770Ala)
c.5183G>C (p.Gly1728Ala)
c.5303G>C (p.Gly1768Ala)
c.5231G>C (p.Gly1744Ala)
c.1997G>C (p.Gly666Ala)
c.1859G>C (p.Gly620Ala)
c.4421G>C (p.Gly1474Ala)
c.5186G>C (p.Gly1729Ala)
c.5375G>C (p.Gly1792Ala)
c.5168G>C (p.Gly1723Ala)
c.1871G>C (p.Gly624Ala)
c.5372G>C (p.Gly1791Ala)
c.1696G>C
c.1883G>C (p.Gly628Ala)
c.*5092G>C (n.*5092G>C)
c.239G>C (p.Gly80Ala)
c.782G>C (p.Gly261Ala)
c.-98-896G>C (n.-98-896G>C)
n.5445G>C
n.5486G>C
 ClinVar dbSNP
17g.43051086C>TCA10590930BRCA1c.5306G>A (p.Gly1769Glu)
c.5309G>A (p.Gly1770Glu)
c.5183G>A (p.Gly1728Glu)
c.5303G>A (p.Gly1768Glu)
c.5231G>A (p.Gly1744Glu)
c.1997G>A (p.Gly666Glu)
c.1859G>A (p.Gly620Glu)
c.4421G>A (p.Gly1474Glu)
c.5186G>A (p.Gly1729Glu)
c.5375G>A (p.Gly1792Glu)
c.5168G>A (p.Gly1723Glu)
c.1871G>A (p.Gly624Glu)
c.5372G>A (p.Gly1791Glu)
c.1696G>A
c.1883G>A (p.Gly628Glu)
c.*5092G>A (n.*5092G>A)
c.239G>A (p.Gly80Glu)
c.782G>A (p.Gly261Glu)
c.-98-896G>A (n.-98-896G>A)
n.5445G>A
n.5486G>A
 ClinVar dbSNP
17g.43051087C>ACA10590931BRCA1c.5305G>T (p.Gly1769Trp)
c.5308G>T (p.Gly1770Trp)
c.5182G>T (p.Gly1728Trp)
c.5302G>T (p.Gly1768Trp)
c.5230G>T (p.Gly1744Trp)
c.1996G>T (p.Gly666Trp)
c.1858G>T (p.Gly620Trp)
c.4420G>T (p.Gly1474Trp)
c.5185G>T (p.Gly1729Trp)
c.5374G>T (p.Gly1792Trp)
c.5167G>T (p.Gly1723Trp)
c.1870G>T (p.Gly624Trp)
c.5371G>T (p.Gly1791Trp)
c.1695G>T
c.1882G>T (p.Gly628Trp)
c.*5091G>T (n.*5091G>T)
c.238G>T (p.Gly80Trp)
c.781G>T (p.Gly261Trp)
c.-98-897G>T (n.-98-897G>T)
n.5444G>T
n.5485G>T
 ClinVar dbSNP
17g.43051087C=CA2260763716BRCA1c.5305G= (p.Gly1769=)
c.5308G= (p.Gly1770=)
c.5182G= (p.Gly1728=)
c.5302G= (p.Gly1768=)
c.5230G= (p.Gly1744=)
c.1996G= (p.Gly666=)
c.1858G= (p.Gly620=)
c.4420G= (p.Gly1474=)
c.5185G= (p.Gly1729=)
c.5374G= (p.Gly1792=)
c.5167G= (p.Gly1723=)
c.1870G= (p.Gly624=)
c.5371G= (p.Gly1791=)
c.1695G=
c.1882G= (p.Gly628=)
c.*5091G= (n.*5091G=)
c.238G= (p.Gly80=)
c.781G= (p.Gly261=)
c.-98-897G= (n.-98-897G=)
n.5444G=
n.5485G=
17g.43051087C>GCA10590932BRCA1c.5305G>C (p.Gly1769Arg)
c.5308G>C (p.Gly1770Arg)
c.5182G>C (p.Gly1728Arg)
c.5302G>C (p.Gly1768Arg)
c.5230G>C (p.Gly1744Arg)
c.1996G>C (p.Gly666Arg)
c.1858G>C (p.Gly620Arg)
c.4420G>C (p.Gly1474Arg)
c.5185G>C (p.Gly1729Arg)
c.5374G>C (p.Gly1792Arg)
c.5167G>C (p.Gly1723Arg)
c.1870G>C (p.Gly624Arg)
c.5371G>C (p.Gly1791Arg)
c.1695G>C
c.1882G>C (p.Gly628Arg)
c.*5091G>C (n.*5091G>C)
c.238G>C (p.Gly80Arg)
c.781G>C (p.Gly261Arg)
c.-98-897G>C (n.-98-897G>C)
n.5444G>C
n.5485G>C
 ClinVar dbSNP
17g.43051087C>TCA10590933BRCA1c.5305G>A (p.Gly1769Arg)
c.5308G>A (p.Gly1770Arg)
c.5182G>A (p.Gly1728Arg)
c.5302G>A (p.Gly1768Arg)
c.5230G>A (p.Gly1744Arg)
c.1996G>A (p.Gly666Arg)
c.1858G>A (p.Gly620Arg)
c.4420G>A (p.Gly1474Arg)
c.5185G>A (p.Gly1729Arg)
c.5374G>A (p.Gly1792Arg)
c.5167G>A (p.Gly1723Arg)
c.1870G>A (p.Gly624Arg)
c.5371G>A (p.Gly1791Arg)
c.1695G>A
c.1882G>A (p.Gly628Arg)
c.*5091G>A (n.*5091G>A)
c.238G>A (p.Gly80Arg)
c.781G>A (p.Gly261Arg)
c.-98-897G>A (n.-98-897G>A)
n.5444G>A
n.5485G>A
 ClinVar dbSNP
17g.43051088A=CA2260763717BRCA1c.5304T= (p.Tyr1768=)
c.5307T= (p.Tyr1769=)
c.5181T= (p.Tyr1727=)
c.5301T= (p.Tyr1767=)
c.5229T= (p.Tyr1743=)
c.1995T= (p.Tyr665=)
c.1857T= (p.Tyr619=)
c.4419T= (p.Tyr1473=)
c.5184T= (p.Tyr1728=)
c.5373T= (p.Tyr1791=)
c.5166T= (p.Tyr1722=)
c.1869T= (p.Tyr623=)
c.5370T= (p.Tyr1790=)
c.1694T=
c.1881T= (p.Tyr627=)
c.*5090T= (n.*5090T=)
c.237T= (p.Tyr79=)
c.780T= (p.Tyr260=)
c.-98-898T= (n.-98-898T=)
n.5443T=
n.5484T=
17g.43051088A>CCA10590934BRCA1c.5304T>G (p.Tyr1768Ter)
c.5307T>G (p.Tyr1769Ter)
c.5181T>G (p.Tyr1727Ter)
c.5301T>G (p.Tyr1767Ter)
c.5229T>G (p.Tyr1743Ter)
c.1995T>G (p.Tyr665Ter)
c.1857T>G (p.Tyr619Ter)
c.4419T>G (p.Tyr1473Ter)
c.5184T>G (p.Tyr1728Ter)
c.5373T>G (p.Tyr1791Ter)
c.5166T>G (p.Tyr1722Ter)
c.1869T>G (p.Tyr623Ter)
c.5370T>G (p.Tyr1790Ter)
c.1694T>G
c.1881T>G (p.Tyr627Ter)
c.*5090T>G (n.*5090T>G)
c.237T>G (p.Tyr79Ter)
c.780T>G (p.Tyr260Ter)
c.-98-898T>G (n.-98-898T>G)
n.5443T>G
n.5484T>G
 ClinVar dbSNP
17g.43051088A>GCA500143590BRCA1c.5304T>C (p.Tyr1768=)
c.5307T>C (p.Tyr1769=)
c.5181T>C (p.Tyr1727=)
c.5301T>C (p.Tyr1767=)
c.5229T>C (p.Tyr1743=)
c.1995T>C (p.Tyr665=)
c.1857T>C (p.Tyr619=)
c.4419T>C (p.Tyr1473=)
c.5184T>C (p.Tyr1728=)
c.5373T>C (p.Tyr1791=)
c.5166T>C (p.Tyr1722=)
c.1869T>C (p.Tyr623=)
c.5370T>C (p.Tyr1790=)
c.1694T>C
c.1881T>C (p.Tyr627=)
c.*5090T>C (n.*5090T>C)
c.237T>C (p.Tyr79=)
c.780T>C (p.Tyr260=)
c.-98-898T>C (n.-98-898T>C)
n.5443T>C
n.5484T>C
 ClinVar dbSNP
17g.43051088A>TCA003459BRCA1c.5304T>A (p.Tyr1768Ter)
c.5307T>A (p.Tyr1769Ter)
c.5181T>A (p.Tyr1727Ter)
c.5301T>A (p.Tyr1767Ter)
c.5229T>A (p.Tyr1743Ter)
c.1995T>A (p.Tyr665Ter)
c.1857T>A (p.Tyr619Ter)
c.4419T>A (p.Tyr1473Ter)
c.5184T>A (p.Tyr1728Ter)
c.5373T>A (p.Tyr1791Ter)
c.5166T>A (p.Tyr1722Ter)
c.1869T>A (p.Tyr623Ter)
c.5370T>A (p.Tyr1790Ter)
c.1694T>A
c.1881T>A (p.Tyr627Ter)
c.*5090T>A (n.*5090T>A)
c.237T>A (p.Tyr79Ter)
c.780T>A (p.Tyr260Ter)
c.-98-898T>A (n.-98-898T>A)
n.5443T>A
n.5484T>A
 ClinVar dbSNP
17g.43051088_43051089insGGTGAAGGGCATGTTGGTGACA2580094084BRCA1c.5304_5305insCACCAACATGCCCTTCACCT (p.Gly1769HisfsTer30)
c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770HisfsTer30)
c.5181_5182insCACCAACATGCCCTTCACCT (p.Gly1728HisfsTer30)
c.5301_5302insCACCAACATGCCCTTCACCT (p.Gly1768HisfsTer30)
c.5229_5230insCACCAACATGCCCTTCACCT (p.Gly1744HisfsTer30)
c.1995_1996insCACCAACATGCCCTTCACCT (p.Gly666HisfsTer30)
c.1857_1858insCACCAACATGCCCTTCACCT (p.Gly620HisfsTer30)
c.4419_4420insCACCAACATGCCCTTCACCT (p.Gly1474HisfsTer30)
c.5184_5185insCACCAACATGCCCTTCACCT (p.Gly1729HisfsTer30)
c.5373_5374insCACCAACATGCCCTTCACCT (p.Gly1792HisfsTer30)
c.5166_5167insCACCAACATGCCCTTCACCT (p.Gly1723HisfsTer30)
c.1869_1870insCACCAACATGCCCTTCACCT (p.Gly624HisfsTer30)
c.5370_5371insCACCAACATGCCCTTCACCT (p.Gly1791HisfsTer30)
c.1694_1695insCACCAACATGCCCTTCACCT
c.1881_1882insCACCAACATGCCCTTCACCT (p.Gly628HisfsTer30)
c.*5090_*5091insCACCAACATGCCCTTCACCT (n.*5090_*5091insCACCAACATGCCCTTCACCT)
c.1995_1996insCACCAACATGCCCTTCACCT (p.Gly666HisfsTer?)
c.237_238insCACCAACATGCCCTTCACCT (p.Gly80HisfsTer30)
c.780_781insCACCAACATGCCCTTCACCT (p.Gly261HisfsTer30)
c.-98-898_-98-897insCACCAACATGCCCTTCACCT (n.-98-898_-98-897insCACCAACATGCCCTTCACCT)
n.5443_5444insCACCAACATGCCCTTCACCT
n.5484_5485insCACCAACATGCCCTTCACCT
 ClinVar dbSNP
17g.43051089T>ACA10590935BRCA1c.5303A>T (p.Tyr1768Phe)
c.5306A>T (p.Tyr1769Phe)
c.5180A>T (p.Tyr1727Phe)
c.5300A>T (p.Tyr1767Phe)
c.5228A>T (p.Tyr1743Phe)
c.1994A>T (p.Tyr665Phe)
c.1856A>T (p.Tyr619Phe)
c.4418A>T (p.Tyr1473Phe)
c.5183A>T (p.Tyr1728Phe)
c.5372A>T (p.Tyr1791Phe)
c.5165A>T (p.Tyr1722Phe)
c.1868A>T (p.Tyr623Phe)
c.5369A>T (p.Tyr1790Phe)
c.1693A>T
c.1880A>T (p.Tyr627Phe)
c.*5089A>T (n.*5089A>T)
c.236A>T (p.Tyr79Phe)
c.779A>T (p.Tyr260Phe)
c.-98-899A>T (n.-98-899A>T)
n.5442A>T
n.5483A>T
 ClinVar dbSNP
17g.43051089T>CCA003458BRCA1c.5303A>G (p.Tyr1768Cys)
c.5306A>G (p.Tyr1769Cys)
c.5180A>G (p.Tyr1727Cys)
c.5300A>G (p.Tyr1767Cys)
c.5228A>G (p.Tyr1743Cys)
c.1994A>G (p.Tyr665Cys)
c.1856A>G (p.Tyr619Cys)
c.4418A>G (p.Tyr1473Cys)
c.5183A>G (p.Tyr1728Cys)
c.5372A>G (p.Tyr1791Cys)
c.5165A>G (p.Tyr1722Cys)
c.1868A>G (p.Tyr623Cys)
c.5369A>G (p.Tyr1790Cys)
c.1693A>G
c.1880A>G (p.Tyr627Cys)
c.*5089A>G (n.*5089A>G)
c.236A>G (p.Tyr79Cys)
c.779A>G (p.Tyr260Cys)
c.-98-899A>G (n.-98-899A>G)
n.5442A>G
n.5483A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051089T>GCA10590936BRCA1c.5303A>C (p.Tyr1768Ser)
c.5306A>C (p.Tyr1769Ser)
c.5180A>C (p.Tyr1727Ser)
c.5300A>C (p.Tyr1767Ser)
c.5228A>C (p.Tyr1743Ser)
c.1994A>C (p.Tyr665Ser)
c.1856A>C (p.Tyr619Ser)
c.4418A>C (p.Tyr1473Ser)
c.5183A>C (p.Tyr1728Ser)
c.5372A>C (p.Tyr1791Ser)
c.5165A>C (p.Tyr1722Ser)
c.1868A>C (p.Tyr623Ser)
c.5369A>C (p.Tyr1790Ser)
c.1693A>C
c.1880A>C (p.Tyr627Ser)
c.*5089A>C (n.*5089A>C)
c.236A>C (p.Tyr79Ser)
c.779A>C (p.Tyr260Ser)
c.-98-899A>C (n.-98-899A>C)
n.5442A>C
n.5483A>C
 ClinVar dbSNP
17g.43051089T=CA2260763718BRCA1c.5303A= (p.Tyr1768=)
c.5306A= (p.Tyr1769=)
c.5180A= (p.Tyr1727=)
c.5300A= (p.Tyr1767=)
c.5228A= (p.Tyr1743=)
c.1994A= (p.Tyr665=)
c.1856A= (p.Tyr619=)
c.4418A= (p.Tyr1473=)
c.5183A= (p.Tyr1728=)
c.5372A= (p.Tyr1791=)
c.5165A= (p.Tyr1722=)
c.1868A= (p.Tyr623=)
c.5369A= (p.Tyr1790=)
c.1693A=
c.1880A= (p.Tyr627=)
c.*5089A= (n.*5089A=)
c.236A= (p.Tyr79=)
c.779A= (p.Tyr260=)
c.-98-899A= (n.-98-899A=)
n.5442A=
n.5483A=
17g.43051089dupCA2499224358BRCA1c.5303dup (p.Tyr1768Ter)
c.5306dup (p.Tyr1769Ter)
c.5180dup (p.Tyr1727Ter)
c.5300dup (p.Tyr1767Ter)
c.5228dup (p.Tyr1743Ter)
c.1994dup (p.Tyr665Ter)
c.1856dup (p.Tyr619Ter)
c.4418dup (p.Tyr1473Ter)
c.5183dup (p.Tyr1728Ter)
c.5372dup (p.Tyr1791Ter)
c.5165dup (p.Tyr1722Ter)
c.1868dup (p.Tyr623Ter)
c.5369dup (p.Tyr1790Ter)
c.1693dup
c.1880dup (p.Tyr627Ter)
c.*5089dup (n.*5089dup)
c.236dup (p.Tyr79Ter)
c.779dup (p.Tyr260Ter)
c.-98-899dup (n.-98-899dup)
n.5442dup
n.5483dup
 ClinVar dbSNP
17g.43051090A=CA2260763720BRCA1c.5302T= (p.Tyr1768=)
c.5305T= (p.Tyr1769=)
c.5179T= (p.Tyr1727=)
c.5299T= (p.Tyr1767=)
c.5227T= (p.Tyr1743=)
c.1993T= (p.Tyr665=)
c.1855T= (p.Tyr619=)
c.4417T= (p.Tyr1473=)
c.5182T= (p.Tyr1728=)
c.5371T= (p.Tyr1791=)
c.5164T= (p.Tyr1722=)
c.1867T= (p.Tyr623=)
c.5368T= (p.Tyr1790=)
c.1692T=
c.1879T= (p.Tyr627=)
c.*5088T= (n.*5088T=)
c.235T= (p.Tyr79=)
c.778T= (p.Tyr260=)
c.-98-900T= (n.-98-900T=)
n.5441T=
n.5482T=
17g.43051090A>CCA10590937BRCA1c.5302T>G (p.Tyr1768Asp)
c.5305T>G (p.Tyr1769Asp)
c.5179T>G (p.Tyr1727Asp)
c.5299T>G (p.Tyr1767Asp)
c.5227T>G (p.Tyr1743Asp)
c.1993T>G (p.Tyr665Asp)
c.1855T>G (p.Tyr619Asp)
c.4417T>G (p.Tyr1473Asp)
c.5182T>G (p.Tyr1728Asp)
c.5371T>G (p.Tyr1791Asp)
c.5164T>G (p.Tyr1722Asp)
c.1867T>G (p.Tyr623Asp)
c.5368T>G (p.Tyr1790Asp)
c.1692T>G
c.1879T>G (p.Tyr627Asp)
c.*5088T>G (n.*5088T>G)
c.235T>G (p.Tyr79Asp)
c.778T>G (p.Tyr260Asp)
c.-98-900T>G (n.-98-900T>G)
n.5441T>G
n.5482T>G
 ClinVar dbSNP
17g.43051090A>GCA10590938BRCA1c.5302T>C (p.Tyr1768His)
c.5305T>C (p.Tyr1769His)
c.5179T>C (p.Tyr1727His)
c.5299T>C (p.Tyr1767His)
c.5227T>C (p.Tyr1743His)
c.1993T>C (p.Tyr665His)
c.1855T>C (p.Tyr619His)
c.4417T>C (p.Tyr1473His)
c.5182T>C (p.Tyr1728His)
c.5371T>C (p.Tyr1791His)
c.5164T>C (p.Tyr1722His)
c.1867T>C (p.Tyr623His)
c.5368T>C (p.Tyr1790His)
c.1692T>C
c.1879T>C (p.Tyr627His)
c.*5088T>C (n.*5088T>C)
c.235T>C (p.Tyr79His)
c.778T>C (p.Tyr260His)
c.-98-900T>C (n.-98-900T>C)
n.5441T>C
n.5482T>C
17g.43051090A>TCA10590939BRCA1c.5302T>A (p.Tyr1768Asn)
c.5305T>A (p.Tyr1769Asn)
c.5179T>A (p.Tyr1727Asn)
c.5299T>A (p.Tyr1767Asn)
c.5227T>A (p.Tyr1743Asn)
c.1993T>A (p.Tyr665Asn)
c.1855T>A (p.Tyr619Asn)
c.4417T>A (p.Tyr1473Asn)
c.5182T>A (p.Tyr1728Asn)
c.5371T>A (p.Tyr1791Asn)
c.5164T>A (p.Tyr1722Asn)
c.1867T>A (p.Tyr623Asn)
c.5368T>A (p.Tyr1790Asn)
c.1692T>A
c.1879T>A (p.Tyr627Asn)
c.*5088T>A (n.*5088T>A)
c.235T>A (p.Tyr79Asn)
c.778T>A (p.Tyr260Asn)
c.-98-900T>A (n.-98-900T>A)
n.5441T>A
n.5482T>A
 ClinVar dbSNP
17g.43051090_43051091delinsAGCA2260763719BRCA1c.5301_5302delinsCT (p.Cys1767=)
c.5304_5305delinsCT (p.Cys1768=)
c.5178_5179delinsCT (p.Cys1726=)
c.5298_5299delinsCT (p.Cys1766=)
c.5226_5227delinsCT (p.Cys1742=)
c.1992_1993delinsCT (p.Cys664=)
c.1854_1855delinsCT (p.Cys618=)
c.4416_4417delinsCT (p.Cys1472=)
c.5181_5182delinsCT (p.Cys1727=)
c.5370_5371delinsCT (p.Cys1790=)
c.5163_5164delinsCT (p.Cys1721=)
c.1866_1867delinsCT (p.Cys622=)
c.5367_5368delinsCT (p.Cys1789=)
c.1691_1692delinsCT
c.1878_1879delinsCT (p.Cys626=)
c.*5087_*5088delinsCT (n.*5087_*5088delinsCT)
c.234_235delinsCT (p.Cys78=)
c.777_778delinsCT (p.Cys259=)
c.-98-901_-98-900delinsCT (n.-98-901_-98-900delinsCT)
n.5440_5441delinsCT
n.5481_5482delinsCT
17g.43051091delCA003457BRCA1c.5301del (p.Tyr1768MetfsTer24)
c.5304del (p.Tyr1769MetfsTer24)
c.5178del (p.Tyr1727MetfsTer24)
c.5298del (p.Tyr1767MetfsTer24)
c.5226del (p.Tyr1743MetfsTer24)
c.1992del (p.Tyr665MetfsTer24)
c.1854del (p.Tyr619MetfsTer24)
c.4416del (p.Tyr1473MetfsTer24)
c.5181del (p.Tyr1728MetfsTer24)
c.5370del (p.Tyr1791MetfsTer24)
c.5163del (p.Tyr1722MetfsTer24)
c.1866del (p.Tyr623MetfsTer24)
c.5367del (p.Tyr1790MetfsTer24)
c.1691del
c.1878del (p.Tyr627MetfsTer24)
c.*5087del (n.*5087del)
c.1992del (p.Tyr665MetfsTer?)
c.234del (p.Tyr79MetfsTer24)
c.777del (p.Tyr260MetfsTer24)
c.-98-901del (n.-98-901del)
n.5440del
n.5481del
 ClinVar dbSNP
17g.43051091G>ACA003456BRCA1c.5301C>T (p.Cys1767=)
c.5304C>T (p.Cys1768=)
c.5178C>T (p.Cys1726=)
c.5298C>T (p.Cys1766=)
c.5226C>T (p.Cys1742=)
c.1992C>T (p.Cys664=)
c.1854C>T (p.Cys618=)
c.4416C>T (p.Cys1472=)
c.5181C>T (p.Cys1727=)
c.5370C>T (p.Cys1790=)
c.5163C>T (p.Cys1721=)
c.1866C>T (p.Cys622=)
c.5367C>T (p.Cys1789=)
c.1691C>T
c.1878C>T (p.Cys626=)
c.*5087C>T (n.*5087C>T)
c.234C>T (p.Cys78=)
c.777C>T (p.Cys259=)
c.-98-901C>T (n.-98-901C>T)
n.5440C>T
n.5481C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051091G>CCA10590940BRCA1c.5301C>G (p.Cys1767Trp)
c.5304C>G (p.Cys1768Trp)
c.5178C>G (p.Cys1726Trp)
c.5298C>G (p.Cys1766Trp)
c.5226C>G (p.Cys1742Trp)
c.1992C>G (p.Cys664Trp)
c.1854C>G (p.Cys618Trp)
c.4416C>G (p.Cys1472Trp)
c.5181C>G (p.Cys1727Trp)
c.5370C>G (p.Cys1790Trp)
c.5163C>G (p.Cys1721Trp)
c.1866C>G (p.Cys622Trp)
c.5367C>G (p.Cys1789Trp)
c.1691C>G
c.1878C>G (p.Cys626Trp)
c.*5087C>G (n.*5087C>G)
c.234C>G (p.Cys78Trp)
c.777C>G (p.Cys259Trp)
c.-98-901C>G (n.-98-901C>G)
n.5440C>G
n.5481C>G
 ClinVar dbSNP
17g.43051091G=CA2260763721BRCA1c.5301C= (p.Cys1767=)
c.5304C= (p.Cys1768=)
c.5178C= (p.Cys1726=)
c.5298C= (p.Cys1766=)
c.5226C= (p.Cys1742=)
c.1992C= (p.Cys664=)
c.1854C= (p.Cys618=)
c.4416C= (p.Cys1472=)
c.5181C= (p.Cys1727=)
c.5370C= (p.Cys1790=)
c.5163C= (p.Cys1721=)
c.1866C= (p.Cys622=)
c.5367C= (p.Cys1789=)
c.1691C=
c.1878C= (p.Cys626=)
c.*5087C= (n.*5087C=)
c.234C= (p.Cys78=)
c.777C= (p.Cys259=)
c.-98-901C= (n.-98-901C=)
n.5440C=
n.5481C=
17g.43051091G>TCA10590941BRCA1c.5301C>A (p.Cys1767Ter)
c.5304C>A (p.Cys1768Ter)
c.5178C>A (p.Cys1726Ter)
c.5298C>A (p.Cys1766Ter)
c.5226C>A (p.Cys1742Ter)
c.1992C>A (p.Cys664Ter)
c.1854C>A (p.Cys618Ter)
c.4416C>A (p.Cys1472Ter)
c.5181C>A (p.Cys1727Ter)
c.5370C>A (p.Cys1790Ter)
c.5163C>A (p.Cys1721Ter)
c.1866C>A (p.Cys622Ter)
c.5367C>A (p.Cys1789Ter)
c.1691C>A
c.1878C>A (p.Cys626Ter)
c.*5087C>A (n.*5087C>A)
c.234C>A (p.Cys78Ter)
c.777C>A (p.Cys259Ter)
c.-98-901C>A (n.-98-901C>A)
n.5440C>A
n.5481C>A
 ClinVar dbSNP
17g.43051092C>ACA10590942BRCA1c.5300G>T (p.Cys1767Phe)
c.5303G>T (p.Cys1768Phe)
c.5177G>T (p.Cys1726Phe)
c.5297G>T (p.Cys1766Phe)
c.5225G>T (p.Cys1742Phe)
c.1991G>T (p.Cys664Phe)
c.1853G>T (p.Cys618Phe)
c.4415G>T (p.Cys1472Phe)
c.5180G>T (p.Cys1727Phe)
c.5369G>T (p.Cys1790Phe)
c.5162G>T (p.Cys1721Phe)
c.1865G>T (p.Cys622Phe)
c.5366G>T (p.Cys1789Phe)
c.1690G>T
c.1877G>T (p.Cys626Phe)
c.*5086G>T (n.*5086G>T)
c.233G>T (p.Cys78Phe)
c.776G>T (p.Cys259Phe)
c.-98-902G>T (n.-98-902G>T)
n.5439G>T
n.5480G>T
 ClinVar dbSNP
17g.43051092C=CA2260763722BRCA1c.5300G= (p.Cys1767=)
c.5303G= (p.Cys1768=)
c.5177G= (p.Cys1726=)
c.5297G= (p.Cys1766=)
c.5225G= (p.Cys1742=)
c.1991G= (p.Cys664=)
c.1853G= (p.Cys618=)
c.4415G= (p.Cys1472=)
c.5180G= (p.Cys1727=)
c.5369G= (p.Cys1790=)
c.5162G= (p.Cys1721=)
c.1865G= (p.Cys622=)
c.5366G= (p.Cys1789=)
c.1690G=
c.1877G= (p.Cys626=)
c.*5086G= (n.*5086G=)
c.233G= (p.Cys78=)
c.776G= (p.Cys259=)
c.-98-902G= (n.-98-902G=)
n.5439G=
n.5480G=
17g.43051092C>GCA10590943BRCA1c.5300G>C (p.Cys1767Ser)
c.5303G>C (p.Cys1768Ser)
c.5177G>C (p.Cys1726Ser)
c.5297G>C (p.Cys1766Ser)
c.5225G>C (p.Cys1742Ser)
c.1991G>C (p.Cys664Ser)
c.1853G>C (p.Cys618Ser)
c.4415G>C (p.Cys1472Ser)
c.5180G>C (p.Cys1727Ser)
c.5369G>C (p.Cys1790Ser)
c.5162G>C (p.Cys1721Ser)
c.1865G>C (p.Cys622Ser)
c.5366G>C (p.Cys1789Ser)
c.1690G>C
c.1877G>C (p.Cys626Ser)
c.*5086G>C (n.*5086G>C)
c.233G>C (p.Cys78Ser)
c.776G>C (p.Cys259Ser)
c.-98-902G>C (n.-98-902G>C)
n.5439G>C
n.5480G>C
 ClinVar dbSNP
17g.43051092C>TCA003455BRCA1c.5300G>A (p.Cys1767Tyr)
c.5303G>A (p.Cys1768Tyr)
c.5177G>A (p.Cys1726Tyr)
c.5297G>A (p.Cys1766Tyr)
c.5225G>A (p.Cys1742Tyr)
c.1991G>A (p.Cys664Tyr)
c.1853G>A (p.Cys618Tyr)
c.4415G>A (p.Cys1472Tyr)
c.5180G>A (p.Cys1727Tyr)
c.5369G>A (p.Cys1790Tyr)
c.5162G>A (p.Cys1721Tyr)
c.1865G>A (p.Cys622Tyr)
c.5366G>A (p.Cys1789Tyr)
c.1690G>A
c.1877G>A (p.Cys626Tyr)
c.*5086G>A (n.*5086G>A)
c.233G>A (p.Cys78Tyr)
c.776G>A (p.Cys259Tyr)
c.-98-902G>A (n.-98-902G>A)
n.5439G>A
n.5480G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43051092_43051093delinsCACA2260763723BRCA1c.5299_5300delinsTG (p.Cys1767=)
c.5302_5303delinsTG (p.Cys1768=)
c.5176_5177delinsTG (p.Cys1726=)
c.5296_5297delinsTG (p.Cys1766=)
c.5224_5225delinsTG (p.Cys1742=)
c.1990_1991delinsTG (p.Cys664=)
c.1852_1853delinsTG (p.Cys618=)
c.4414_4415delinsTG (p.Cys1472=)
c.5179_5180delinsTG (p.Cys1727=)
c.5368_5369delinsTG (p.Cys1790=)
c.5161_5162delinsTG (p.Cys1721=)
c.1864_1865delinsTG (p.Cys622=)
c.5365_5366delinsTG (p.Cys1789=)
c.1689_1690delinsTG
c.1876_1877delinsTG (p.Cys626=)
c.*5085_*5086delinsTG (n.*5085_*5086delinsTG)
c.232_233delinsTG (p.Cys78=)
c.775_776delinsTG (p.Cys259=)
c.-98-903_-98-902delinsTG (n.-98-903_-98-902delinsTG)
n.5438_5439delinsTG
n.5479_5480delinsTG
17g.43051093A=CA2260763724BRCA1c.5299T= (p.Cys1767=)
c.5302T= (p.Cys1768=)
c.5176T= (p.Cys1726=)
c.5296T= (p.Cys1766=)
c.5224T= (p.Cys1742=)
c.1990T= (p.Cys664=)
c.1852T= (p.Cys618=)
c.4414T= (p.Cys1472=)
c.5179T= (p.Cys1727=)
c.5368T= (p.Cys1790=)
c.5161T= (p.Cys1721=)
c.1864T= (p.Cys622=)
c.5365T= (p.Cys1789=)
c.1689T=
c.1876T= (p.Cys626=)
c.*5085T= (n.*5085T=)
c.232T= (p.Cys78=)
c.775T= (p.Cys259=)
c.-98-903T= (n.-98-903T=)
n.5438T=
n.5479T=
17g.43051093A>CCA003454BRCA1c.5299T>G (p.Cys1767Gly)
c.5302T>G (p.Cys1768Gly)
c.5176T>G (p.Cys1726Gly)
c.5296T>G (p.Cys1766Gly)
c.5224T>G (p.Cys1742Gly)
c.1990T>G (p.Cys664Gly)
c.1852T>G (p.Cys618Gly)
c.4414T>G (p.Cys1472Gly)
c.5179T>G (p.Cys1727Gly)
c.5368T>G (p.Cys1790Gly)
c.5161T>G (p.Cys1721Gly)
c.1864T>G (p.Cys622Gly)
c.5365T>G (p.Cys1789Gly)
c.1689T>G
c.1876T>G (p.Cys626Gly)
c.*5085T>G (n.*5085T>G)
c.232T>G (p.Cys78Gly)
c.775T>G (p.Cys259Gly)
c.-98-903T>G (n.-98-903T>G)
n.5438T>G
n.5479T>G
 ClinVar dbSNP gnomAD v4
17g.43051093A>GCA10590944BRCA1c.5299T>C (p.Cys1767Arg)
c.5302T>C (p.Cys1768Arg)
c.5176T>C (p.Cys1726Arg)
c.5296T>C (p.Cys1766Arg)
c.5224T>C (p.Cys1742Arg)
c.1990T>C (p.Cys664Arg)
c.1852T>C (p.Cys618Arg)
c.4414T>C (p.Cys1472Arg)
c.5179T>C (p.Cys1727Arg)
c.5368T>C (p.Cys1790Arg)
c.5161T>C (p.Cys1721Arg)
c.1864T>C (p.Cys622Arg)
c.5365T>C (p.Cys1789Arg)
c.1689T>C
c.1876T>C (p.Cys626Arg)
c.*5085T>C (n.*5085T>C)
c.232T>C (p.Cys78Arg)
c.775T>C (p.Cys259Arg)
c.-98-903T>C (n.-98-903T>C)
n.5438T>C
n.5479T>C
 ClinVar dbSNP
17g.43051093A>TCA10590945BRCA1c.5299T>A (p.Cys1767Ser)
c.5302T>A (p.Cys1768Ser)
c.5176T>A (p.Cys1726Ser)
c.5296T>A (p.Cys1766Ser)
c.5224T>A (p.Cys1742Ser)
c.1990T>A (p.Cys664Ser)
c.1852T>A (p.Cys618Ser)
c.4414T>A (p.Cys1472Ser)
c.5179T>A (p.Cys1727Ser)
c.5368T>A (p.Cys1790Ser)
c.5161T>A (p.Cys1721Ser)
c.1864T>A (p.Cys622Ser)
c.5365T>A (p.Cys1789Ser)
c.1689T>A
c.1876T>A (p.Cys626Ser)
c.*5085T>A (n.*5085T>A)
c.232T>A (p.Cys78Ser)
c.775T>A (p.Cys259Ser)
c.-98-903T>A (n.-98-903T>A)
n.5438T>A
n.5479T>A
 ClinVar dbSNP
17g.43051094delCA10589598BRCA1c.5299del (p.Cys1767AlafsTer25)
c.5302del (p.Cys1768AlafsTer25)
c.5176del (p.Cys1726AlafsTer25)
c.5296del (p.Cys1766AlafsTer25)
c.5224del (p.Cys1742AlafsTer25)
c.1990del (p.Cys664AlafsTer25)
c.1852del (p.Cys618AlafsTer25)
c.4414del (p.Cys1472AlafsTer25)
c.5179del (p.Cys1727AlafsTer25)
c.5368del (p.Cys1790AlafsTer25)
c.5161del (p.Cys1721AlafsTer25)
c.1864del (p.Cys622AlafsTer25)
c.5365del (p.Cys1789AlafsTer25)
c.1689del
c.1876del (p.Cys626AlafsTer25)
c.*5085del (n.*5085del)
c.1990del (p.Cys664AlafsTer?)
c.232del (p.Cys78AlafsTer25)
c.775del (p.Cys259AlafsTer25)
c.-98-903del (n.-98-903del)
n.5438del
n.5479del
 ClinVar dbSNP
17g.43051093_43051095delinsAACCA2260763725BRCA1c.5297_5299delinsGTT (p.Cys1766=)
c.5300_5302delinsGTT (p.Cys1767=)
c.5174_5176delinsGTT (p.Cys1725=)
c.5294_5296delinsGTT (p.Cys1765=)
c.5222_5224delinsGTT (p.Cys1741=)
c.1988_1990delinsGTT (p.Cys663=)
c.1850_1852delinsGTT (p.Cys617=)
c.4412_4414delinsGTT (p.Cys1471=)
c.5177_5179delinsGTT (p.Cys1726=)
c.5366_5368delinsGTT (p.Cys1789=)
c.5159_5161delinsGTT (p.Cys1720=)
c.1862_1864delinsGTT (p.Cys621=)
c.5363_5365delinsGTT (p.Cys1788=)
c.1687_1689delinsGTT
c.1874_1876delinsGTT (p.Cys625=)
c.*5083_*5085delinsGTT (n.*5083_*5085delinsGTT)
c.230_232delinsGTT (p.Cys77=)
c.773_775delinsGTT (p.Cys258=)
c.-98-905_-98-903delinsGTT (n.-98-905_-98-903delinsGTT)
n.5436_5438delinsGTT
n.5477_5479delinsGTT
17g.43051094A=CA2260763726BRCA1c.5298T= (p.Cys1766=)
c.5301T= (p.Cys1767=)
c.5175T= (p.Cys1725=)
c.5295T= (p.Cys1765=)
c.5223T= (p.Cys1741=)
c.1989T= (p.Cys663=)
c.1851T= (p.Cys617=)
c.4413T= (p.Cys1471=)
c.5178T= (p.Cys1726=)
c.5367T= (p.Cys1789=)
c.5160T= (p.Cys1720=)
c.1863T= (p.Cys621=)
c.5364T= (p.Cys1788=)
c.1688T=
c.1875T= (p.Cys625=)
c.*5084T= (n.*5084T=)
c.231T= (p.Cys77=)
c.774T= (p.Cys258=)
c.-98-904T= (n.-98-904T=)
n.5437T=
n.5478T=
17g.43051094A>CCA10590946BRCA1c.5298T>G (p.Cys1766Trp)
c.5301T>G (p.Cys1767Trp)
c.5175T>G (p.Cys1725Trp)
c.5295T>G (p.Cys1765Trp)
c.5223T>G (p.Cys1741Trp)
c.1989T>G (p.Cys663Trp)
c.1851T>G (p.Cys617Trp)
c.4413T>G (p.Cys1471Trp)
c.5178T>G (p.Cys1726Trp)
c.5367T>G (p.Cys1789Trp)
c.5160T>G (p.Cys1720Trp)
c.1863T>G (p.Cys621Trp)
c.5364T>G (p.Cys1788Trp)
c.1688T>G
c.1875T>G (p.Cys625Trp)
c.*5084T>G (n.*5084T>G)
c.231T>G (p.Cys77Trp)
c.774T>G (p.Cys258Trp)
c.-98-904T>G (n.-98-904T>G)
n.5437T>G
n.5478T>G
 ClinVar dbSNP
17g.43051094A>GCA500143591BRCA1c.5298T>C (p.Cys1766=)
c.5301T>C (p.Cys1767=)
c.5175T>C (p.Cys1725=)
c.5295T>C (p.Cys1765=)
c.5223T>C (p.Cys1741=)
c.1989T>C (p.Cys663=)
c.1851T>C (p.Cys617=)
c.4413T>C (p.Cys1471=)
c.5178T>C (p.Cys1726=)
c.5367T>C (p.Cys1789=)
c.5160T>C (p.Cys1720=)
c.1863T>C (p.Cys621=)
c.5364T>C (p.Cys1788=)
c.1688T>C
c.1875T>C (p.Cys625=)
c.*5084T>C (n.*5084T>C)
c.231T>C (p.Cys77=)
c.774T>C (p.Cys258=)
c.-98-904T>C (n.-98-904T>C)
n.5437T>C
n.5478T>C
 ClinVar dbSNP
17g.43051094A>TCA10589599BRCA1c.5298T>A (p.Cys1766Ter)
c.5301T>A (p.Cys1767Ter)
c.5175T>A (p.Cys1725Ter)
c.5295T>A (p.Cys1765Ter)
c.5223T>A (p.Cys1741Ter)
c.1989T>A (p.Cys663Ter)
c.1851T>A (p.Cys617Ter)
c.4413T>A (p.Cys1471Ter)
c.5178T>A (p.Cys1726Ter)
c.5367T>A (p.Cys1789Ter)
c.5160T>A (p.Cys1720Ter)
c.1863T>A (p.Cys621Ter)
c.5364T>A (p.Cys1788Ter)
c.1688T>A
c.1875T>A (p.Cys625Ter)
c.*5084T>A (n.*5084T>A)
c.231T>A (p.Cys77Ter)
c.774T>A (p.Cys258Ter)
c.-98-904T>A (n.-98-904T>A)
n.5437T>A
n.5478T>A
 ClinVar dbSNP
17g.43051095_43051096delCA10589600BRCA1c.5297_5298del (p.Cys1766LeufsTer?)
c.5300_5301del (p.Cys1767LeufsTer?)
c.5174_5175del (p.Cys1725LeufsTer?)
c.5294_5295del (p.Cys1765LeufsTer?)
c.5222_5223del (p.Cys1741LeufsTer?)
c.1988_1989del (p.Cys663LeufsTer?)
c.1850_1851del (p.Cys617LeufsTer?)
c.4412_4413del (p.Cys1471LeufsTer?)
c.5177_5178del (p.Cys1726LeufsTer?)
c.5366_5367del (p.Cys1789LeufsTer?)
c.5159_5160del (p.Cys1720LeufsTer?)
c.1862_1863del (p.Cys621LeufsTer?)
c.5363_5364del (p.Cys1788LeufsTer?)
c.1687_1688del
c.1874_1875del (p.Cys625LeufsTer?)
c.*5083_*5084del (n.*5083_*5084del)
c.230_231del (p.Cys77LeufsTer?)
c.773_774del (p.Cys258LeufsTer?)
c.-98-905_-98-904del (n.-98-905_-98-904del)
n.5436_5437del
n.5477_5478del
 ClinVar dbSNP
17g.43051095C>ACA10590947BRCA1c.5297G>T (p.Cys1766Phe)
c.5300G>T (p.Cys1767Phe)
c.5174G>T (p.Cys1725Phe)
c.5294G>T (p.Cys1765Phe)
c.5222G>T (p.Cys1741Phe)
c.1988G>T (p.Cys663Phe)
c.1850G>T (p.Cys617Phe)
c.4412G>T (p.Cys1471Phe)
c.5177G>T (p.Cys1726Phe)
c.5366G>T (p.Cys1789Phe)
c.5159G>T (p.Cys1720Phe)
c.1862G>T (p.Cys621Phe)
c.5363G>T (p.Cys1788Phe)
c.1687G>T
c.1874G>T (p.Cys625Phe)
c.*5083G>T (n.*5083G>T)
c.230G>T (p.Cys77Phe)
c.773G>T (p.Cys258Phe)
c.-98-905G>T (n.-98-905G>T)
n.5436G>T
n.5477G>T
 ClinVar dbSNP
17g.43051095C=CA2260763728BRCA1c.5297G= (p.Cys1766=)
c.5300G= (p.Cys1767=)
c.5174G= (p.Cys1725=)
c.5294G= (p.Cys1765=)
c.5222G= (p.Cys1741=)
c.1988G= (p.Cys663=)
c.1850G= (p.Cys617=)
c.4412G= (p.Cys1471=)
c.5177G= (p.Cys1726=)
c.5366G= (p.Cys1789=)
c.5159G= (p.Cys1720=)
c.1862G= (p.Cys621=)
c.5363G= (p.Cys1788=)
c.1687G=
c.1874G= (p.Cys625=)
c.*5083G= (n.*5083G=)
c.230G= (p.Cys77=)
c.773G= (p.Cys258=)
c.-98-905G= (n.-98-905G=)
n.5436G=
n.5477G=
17g.43051095C>GCA10590948BRCA1c.5297G>C (p.Cys1766Ser)
c.5300G>C (p.Cys1767Ser)
c.5174G>C (p.Cys1725Ser)
c.5294G>C (p.Cys1765Ser)
c.5222G>C (p.Cys1741Ser)
c.1988G>C (p.Cys663Ser)
c.1850G>C (p.Cys617Ser)
c.4412G>C (p.Cys1471Ser)
c.5177G>C (p.Cys1726Ser)
c.5366G>C (p.Cys1789Ser)
c.5159G>C (p.Cys1720Ser)
c.1862G>C (p.Cys621Ser)
c.5363G>C (p.Cys1788Ser)
c.1687G>C
c.1874G>C (p.Cys625Ser)
c.*5083G>C (n.*5083G>C)
c.230G>C (p.Cys77Ser)
c.773G>C (p.Cys258Ser)
c.-98-905G>C (n.-98-905G>C)
n.5436G>C
n.5477G>C
 ClinVar dbSNP gnomAD v4
17g.43051095C>TCA10590949BRCA1c.5297G>A (p.Cys1766Tyr)
c.5300G>A (p.Cys1767Tyr)
c.5174G>A (p.Cys1725Tyr)
c.5294G>A (p.Cys1765Tyr)
c.5222G>A (p.Cys1741Tyr)
c.1988G>A (p.Cys663Tyr)
c.1850G>A (p.Cys617Tyr)
c.4412G>A (p.Cys1471Tyr)
c.5177G>A (p.Cys1726Tyr)
c.5366G>A (p.Cys1789Tyr)
c.5159G>A (p.Cys1720Tyr)
c.1862G>A (p.Cys621Tyr)
c.5363G>A (p.Cys1788Tyr)
c.1687G>A
c.1874G>A (p.Cys625Tyr)
c.*5083G>A (n.*5083G>A)
c.230G>A (p.Cys77Tyr)
c.773G>A (p.Cys258Tyr)
c.-98-905G>A (n.-98-905G>A)
n.5436G>A
n.5477G>A
 ClinVar dbSNP
17g.43051095_43051096delinsCACA2260763727BRCA1c.5296_5297delinsTG (p.Cys1766=)
c.5299_5300delinsTG (p.Cys1767=)
c.5173_5174delinsTG (p.Cys1725=)
c.5293_5294delinsTG (p.Cys1765=)
c.5221_5222delinsTG (p.Cys1741=)
c.1987_1988delinsTG (p.Cys663=)
c.1849_1850delinsTG (p.Cys617=)
c.4411_4412delinsTG (p.Cys1471=)
c.5176_5177delinsTG (p.Cys1726=)
c.5365_5366delinsTG (p.Cys1789=)
c.5158_5159delinsTG (p.Cys1720=)
c.1861_1862delinsTG (p.Cys621=)
c.5362_5363delinsTG (p.Cys1788=)
c.1686_1687delinsTG
c.1873_1874delinsTG (p.Cys625=)
c.*5082_*5083delinsTG (n.*5082_*5083delinsTG)
c.229_230delinsTG (p.Cys77=)
c.772_773delinsTG (p.Cys258=)
c.-98-906_-98-905delinsTG (n.-98-906_-98-905delinsTG)
n.5435_5436delinsTG
n.5476_5477delinsTG
17g.43051096delCA10589601BRCA1c.5296del (p.Cys1766ValfsTer26)
c.5299del (p.Cys1767ValfsTer26)
c.5173del (p.Cys1725ValfsTer26)
c.5293del (p.Cys1765ValfsTer26)
c.5221del (p.Cys1741ValfsTer26)
c.1987del (p.Cys663ValfsTer26)
c.1849del (p.Cys617ValfsTer26)
c.4411del (p.Cys1471ValfsTer26)
c.5176del (p.Cys1726ValfsTer26)
c.5365del (p.Cys1789ValfsTer26)
c.5158del (p.Cys1720ValfsTer26)
c.1861del (p.Cys621ValfsTer26)
c.5362del (p.Cys1788ValfsTer26)
c.1686del
c.1873del (p.Cys625ValfsTer26)
c.*5082del (n.*5082del)
c.1987del (p.Cys663ValfsTer?)
c.229del (p.Cys77ValfsTer26)
c.772del (p.Cys258ValfsTer26)
c.-98-906del (n.-98-906del)
n.5435del
n.5476del
 ClinVar dbSNP
17g.43051096A=CA2260763729BRCA1c.5296T= (p.Cys1766=)
c.5299T= (p.Cys1767=)
c.5173T= (p.Cys1725=)
c.5293T= (p.Cys1765=)
c.5221T= (p.Cys1741=)
c.1987T= (p.Cys663=)
c.1849T= (p.Cys617=)
c.4411T= (p.Cys1471=)
c.5176T= (p.Cys1726=)
c.5365T= (p.Cys1789=)
c.5158T= (p.Cys1720=)
c.1861T= (p.Cys621=)
c.5362T= (p.Cys1788=)
c.1686T=
c.1873T= (p.Cys625=)
c.*5082T= (n.*5082T=)
c.229T= (p.Cys77=)
c.772T= (p.Cys258=)
c.-98-906T= (n.-98-906T=)
n.5435T=
n.5476T=
17g.43051096A>CCA10590950BRCA1c.5296T>G (p.Cys1766Gly)
c.5299T>G (p.Cys1767Gly)
c.5173T>G (p.Cys1725Gly)
c.5293T>G (p.Cys1765Gly)
c.5221T>G (p.Cys1741Gly)
c.1987T>G (p.Cys663Gly)
c.1849T>G (p.Cys617Gly)
c.4411T>G (p.Cys1471Gly)
c.5176T>G (p.Cys1726Gly)
c.5365T>G (p.Cys1789Gly)
c.5158T>G (p.Cys1720Gly)
c.1861T>G (p.Cys621Gly)
c.5362T>G (p.Cys1788Gly)
c.1686T>G
c.1873T>G (p.Cys625Gly)
c.*5082T>G (n.*5082T>G)
c.229T>G (p.Cys77Gly)
c.772T>G (p.Cys258Gly)
c.-98-906T>G (n.-98-906T>G)
n.5435T>G
n.5476T>G
 ClinVar dbSNP
17g.43051096A>GCA10590951BRCA1c.5296T>C (p.Cys1766Arg)
c.5299T>C (p.Cys1767Arg)
c.5173T>C (p.Cys1725Arg)
c.5293T>C (p.Cys1765Arg)
c.5221T>C (p.Cys1741Arg)
c.1987T>C (p.Cys663Arg)
c.1849T>C (p.Cys617Arg)
c.4411T>C (p.Cys1471Arg)
c.5176T>C (p.Cys1726Arg)
c.5365T>C (p.Cys1789Arg)
c.5158T>C (p.Cys1720Arg)
c.1861T>C (p.Cys621Arg)
c.5362T>C (p.Cys1788Arg)
c.1686T>C
c.1873T>C (p.Cys625Arg)
c.*5082T>C (n.*5082T>C)
c.229T>C (p.Cys77Arg)
c.772T>C (p.Cys258Arg)
c.-98-906T>C (n.-98-906T>C)
n.5435T>C
n.5476T>C
 ClinVar dbSNP gnomAD v4
17g.43051096A>TCA10590952BRCA1c.5296T>A (p.Cys1766Ser)
c.5299T>A (p.Cys1767Ser)
c.5173T>A (p.Cys1725Ser)
c.5293T>A (p.Cys1765Ser)
c.5221T>A (p.Cys1741Ser)
c.1987T>A (p.Cys663Ser)
c.1849T>A (p.Cys617Ser)
c.4411T>A (p.Cys1471Ser)
c.5176T>A (p.Cys1726Ser)
c.5365T>A (p.Cys1789Ser)
c.5158T>A (p.Cys1720Ser)
c.1861T>A (p.Cys621Ser)
c.5362T>A (p.Cys1788Ser)
c.1686T>A
c.1873T>A (p.Cys625Ser)
c.*5082T>A (n.*5082T>A)
c.229T>A (p.Cys77Ser)
c.772T>A (p.Cys258Ser)
c.-98-906T>A (n.-98-906T>A)
n.5435T>A
n.5476T>A
 ClinVar dbSNP
17g.43051098_43051105delCA2573054436BRCA1c.5289_5296del (p.Glu1764LeufsTer?)
c.5292_5299del (p.Glu1765LeufsTer?)
c.5166_5173del (p.Glu1723LeufsTer?)
c.5286_5293del (p.Glu1763LeufsTer?)
c.5214_5221del (p.Glu1739LeufsTer?)
c.1980_1987del (p.Glu661LeufsTer?)
c.1842_1849del (p.Glu615LeufsTer?)
c.4404_4411del (p.Glu1469LeufsTer?)
c.5169_5176del (p.Glu1724LeufsTer?)
c.5358_5365del (p.Glu1787LeufsTer?)
c.5151_5158del (p.Glu1718LeufsTer?)
c.1854_1861del (p.Glu619LeufsTer?)
c.5355_5362del (p.Glu1786LeufsTer?)
c.1679_1686del
c.1866_1873del (p.Glu623LeufsTer?)
c.*5075_*5082del (n.*5075_*5082del)
c.222_229del (p.Glu75LeufsTer?)
c.765_772del (p.Glu256LeufsTer?)
c.-98-913_-98-906del (n.-98-913_-98-906del)
n.5428_5435del
n.5469_5476del
 ClinVar dbSNP
17g.43051097G>ACA500143592BRCA1c.5295C>T (p.Ile1765=)
c.5298C>T (p.Ile1766=)
c.5172C>T (p.Ile1724=)
c.5292C>T (p.Ile1764=)
c.5220C>T (p.Ile1740=)
c.1986C>T (p.Ile662=)
c.1848C>T (p.Ile616=)
c.4410C>T (p.Ile1470=)
c.5175C>T (p.Ile1725=)
c.5364C>T (p.Ile1788=)
c.5157C>T (p.Ile1719=)
c.1860C>T (p.Ile620=)
c.5361C>T (p.Ile1787=)
c.1685C>T
c.1872C>T (p.Ile624=)
c.*5081C>T (n.*5081C>T)
c.228C>T (p.Ile76=)
c.771C>T (p.Ile257=)
c.-98-907C>T (n.-98-907C>T)
n.5434C>T
n.5475C>T
 ClinVar dbSNP gnomAD v4
17g.43051097G>CCA10590953BRCA1c.5295C>G (p.Ile1765Met)
c.5298C>G (p.Ile1766Met)
c.5172C>G (p.Ile1724Met)
c.5292C>G (p.Ile1764Met)
c.5220C>G (p.Ile1740Met)
c.1986C>G (p.Ile662Met)
c.1848C>G (p.Ile616Met)
c.4410C>G (p.Ile1470Met)
c.5175C>G (p.Ile1725Met)
c.5364C>G (p.Ile1788Met)
c.5157C>G (p.Ile1719Met)
c.1860C>G (p.Ile620Met)
c.5361C>G (p.Ile1787Met)
c.1685C>G
c.1872C>G (p.Ile624Met)
c.*5081C>G (n.*5081C>G)
c.228C>G (p.Ile76Met)
c.771C>G (p.Ile257Met)
c.-98-907C>G (n.-98-907C>G)
n.5434C>G
n.5475C>G
 ClinVar dbSNP
17g.43051097G=CA2260763730BRCA1c.5295C= (p.Ile1765=)
c.5298C= (p.Ile1766=)
c.5172C= (p.Ile1724=)
c.5292C= (p.Ile1764=)
c.5220C= (p.Ile1740=)
c.1986C= (p.Ile662=)
c.1848C= (p.Ile616=)
c.4410C= (p.Ile1470=)
c.5175C= (p.Ile1725=)
c.5364C= (p.Ile1788=)
c.5157C= (p.Ile1719=)
c.1860C= (p.Ile620=)
c.5361C= (p.Ile1787=)
c.1685C=
c.1872C= (p.Ile624=)
c.*5081C= (n.*5081C=)
c.228C= (p.Ile76=)
c.771C= (p.Ile257=)
c.-98-907C= (n.-98-907C=)
n.5434C=
n.5475C=
17g.43051097G>TCA500143593BRCA1c.5295C>A (p.Ile1765=)
c.5298C>A (p.Ile1766=)
c.5172C>A (p.Ile1724=)
c.5292C>A (p.Ile1764=)
c.5220C>A (p.Ile1740=)
c.1986C>A (p.Ile662=)
c.1848C>A (p.Ile616=)
c.4410C>A (p.Ile1470=)
c.5175C>A (p.Ile1725=)
c.5364C>A (p.Ile1788=)
c.5157C>A (p.Ile1719=)
c.1860C>A (p.Ile620=)
c.5361C>A (p.Ile1787=)
c.1685C>A
c.1872C>A (p.Ile624=)
c.*5081C>A (n.*5081C>A)
c.228C>A (p.Ile76=)
c.771C>A (p.Ile257=)
c.-98-907C>A (n.-98-907C>A)
n.5434C>A
n.5475C>A
 ClinVar dbSNP
17g.43051098A=CA2260763731BRCA1c.5294T= (p.Ile1765=)
c.5297T= (p.Ile1766=)
c.5171T= (p.Ile1724=)
c.5291T= (p.Ile1764=)
c.5219T= (p.Ile1740=)
c.1985T= (p.Ile662=)
c.1847T= (p.Ile616=)
c.4409T= (p.Ile1470=)
c.5174T= (p.Ile1725=)
c.5363T= (p.Ile1788=)
c.5156T= (p.Ile1719=)
c.1859T= (p.Ile620=)
c.5360T= (p.Ile1787=)
c.1684T=
c.1871T= (p.Ile624=)
c.*5080T= (n.*5080T=)
c.227T= (p.Ile76=)
c.770T= (p.Ile257=)
c.-98-908T= (n.-98-908T=)
n.5433T=
n.5474T=
17g.43051098A>CCA003452BRCA1c.5294T>G (p.Ile1765Ser)
c.5297T>G (p.Ile1766Ser)
c.5171T>G (p.Ile1724Ser)
c.5291T>G (p.Ile1764Ser)
c.5219T>G (p.Ile1740Ser)
c.1985T>G (p.Ile662Ser)
c.1847T>G (p.Ile616Ser)
c.4409T>G (p.Ile1470Ser)
c.5174T>G (p.Ile1725Ser)
c.5363T>G (p.Ile1788Ser)
c.5156T>G (p.Ile1719Ser)
c.1859T>G (p.Ile620Ser)
c.5360T>G (p.Ile1787Ser)
c.1684T>G
c.1871T>G (p.Ile624Ser)
c.*5080T>G (n.*5080T>G)
c.227T>G (p.Ile76Ser)
c.770T>G (p.Ile257Ser)
c.-98-908T>G (n.-98-908T>G)
n.5433T>G
n.5474T>G
 ClinVar dbSNP
17g.43051098A>GCA10590954BRCA1c.5294T>C (p.Ile1765Thr)
c.5297T>C (p.Ile1766Thr)
c.5171T>C (p.Ile1724Thr)
c.5291T>C (p.Ile1764Thr)
c.5219T>C (p.Ile1740Thr)
c.1985T>C (p.Ile662Thr)
c.1847T>C (p.Ile616Thr)
c.4409T>C (p.Ile1470Thr)
c.5174T>C (p.Ile1725Thr)
c.5363T>C (p.Ile1788Thr)
c.5156T>C (p.Ile1719Thr)
c.1859T>C (p.Ile620Thr)
c.5360T>C (p.Ile1787Thr)
c.1684T>C
c.1871T>C (p.Ile624Thr)
c.*5080T>C (n.*5080T>C)
c.227T>C (p.Ile76Thr)
c.770T>C (p.Ile257Thr)
c.-98-908T>C (n.-98-908T>C)
n.5433T>C
n.5474T>C
 ClinVar dbSNP
17g.43051098A>TCA10590955BRCA1c.5294T>A (p.Ile1765Asn)
c.5297T>A (p.Ile1766Asn)
c.5171T>A (p.Ile1724Asn)
c.5291T>A (p.Ile1764Asn)
c.5219T>A (p.Ile1740Asn)
c.1985T>A (p.Ile662Asn)
c.1847T>A (p.Ile616Asn)
c.4409T>A (p.Ile1470Asn)
c.5174T>A (p.Ile1725Asn)
c.5363T>A (p.Ile1788Asn)
c.5156T>A (p.Ile1719Asn)
c.1859T>A (p.Ile620Asn)
c.5360T>A (p.Ile1787Asn)
c.1684T>A
c.1871T>A (p.Ile624Asn)
c.*5080T>A (n.*5080T>A)
c.227T>A (p.Ile76Asn)
c.770T>A (p.Ile257Asn)
c.-98-908T>A (n.-98-908T>A)
n.5433T>A
n.5474T>A
 ClinVar dbSNP
17g.43051099T>ACA10590956BRCA1c.5293A>T (p.Ile1765Phe)
c.5296A>T (p.Ile1766Phe)
c.5170A>T (p.Ile1724Phe)
c.5290A>T (p.Ile1764Phe)
c.5218A>T (p.Ile1740Phe)
c.1984A>T (p.Ile662Phe)
c.1846A>T (p.Ile616Phe)
c.4408A>T (p.Ile1470Phe)
c.5173A>T (p.Ile1725Phe)
c.5362A>T (p.Ile1788Phe)
c.5155A>T (p.Ile1719Phe)
c.1858A>T (p.Ile620Phe)
c.5359A>T (p.Ile1787Phe)
c.1683A>T
c.1870A>T (p.Ile624Phe)
c.*5079A>T (n.*5079A>T)
c.226A>T (p.Ile76Phe)
c.769A>T (p.Ile257Phe)
c.-98-909A>T (n.-98-909A>T)
n.5432A>T
n.5473A>T
 ClinVar dbSNP
17g.43051099T>CCA10588653BRCA1c.5293A>G (p.Ile1765Val)
c.5296A>G (p.Ile1766Val)
c.5170A>G (p.Ile1724Val)
c.5290A>G (p.Ile1764Val)
c.5218A>G (p.Ile1740Val)
c.1984A>G (p.Ile662Val)
c.1846A>G (p.Ile616Val)
c.4408A>G (p.Ile1470Val)
c.5173A>G (p.Ile1725Val)
c.5362A>G (p.Ile1788Val)
c.5155A>G (p.Ile1719Val)
c.1858A>G (p.Ile620Val)
c.5359A>G (p.Ile1787Val)
c.1683A>G
c.1870A>G (p.Ile624Val)
c.*5079A>G (n.*5079A>G)
c.226A>G (p.Ile76Val)
c.769A>G (p.Ile257Val)
c.-98-909A>G (n.-98-909A>G)
n.5432A>G
n.5473A>G
 ClinVar dbSNP gnomAD v4
17g.43051099T>GCA10590957BRCA1c.5293A>C (p.Ile1765Leu)
c.5296A>C (p.Ile1766Leu)
c.5170A>C (p.Ile1724Leu)
c.5290A>C (p.Ile1764Leu)
c.5218A>C (p.Ile1740Leu)
c.1984A>C (p.Ile662Leu)
c.1846A>C (p.Ile616Leu)
c.4408A>C (p.Ile1470Leu)
c.5173A>C (p.Ile1725Leu)
c.5362A>C (p.Ile1788Leu)
c.5155A>C (p.Ile1719Leu)
c.1858A>C (p.Ile620Leu)
c.5359A>C (p.Ile1787Leu)
c.1683A>C
c.1870A>C (p.Ile624Leu)
c.*5079A>C (n.*5079A>C)
c.226A>C (p.Ile76Leu)
c.769A>C (p.Ile257Leu)
c.-98-909A>C (n.-98-909A>C)
n.5432A>C
n.5473A>C
 ClinVar dbSNP
17g.43051099T=CA2260763732BRCA1c.5293A= (p.Ile1765=)
c.5296A= (p.Ile1766=)
c.5170A= (p.Ile1724=)
c.5290A= (p.Ile1764=)
c.5218A= (p.Ile1740=)
c.1984A= (p.Ile662=)
c.1846A= (p.Ile616=)
c.4408A= (p.Ile1470=)
c.5173A= (p.Ile1725=)
c.5362A= (p.Ile1788=)
c.5155A= (p.Ile1719=)
c.1858A= (p.Ile620=)
c.5359A= (p.Ile1787=)
c.1683A=
c.1870A= (p.Ile624=)
c.*5079A= (n.*5079A=)
c.226A= (p.Ile76=)
c.769A= (p.Ile257=)
c.-98-909A= (n.-98-909A=)
n.5432A=
n.5473A=
17g.43051101dupCA658656653BRCA1c.5293dup (p.Ile1765AsnfsTer?)
c.5296dup (p.Ile1766AsnfsTer?)
c.5170dup (p.Ile1724AsnfsTer?)
c.5290dup (p.Ile1764AsnfsTer?)
c.5218dup (p.Ile1740AsnfsTer?)
c.1984dup (p.Ile662AsnfsTer?)
c.1846dup (p.Ile616AsnfsTer?)
c.4408dup (p.Ile1470AsnfsTer?)
c.5173dup (p.Ile1725AsnfsTer?)
c.5362dup (p.Ile1788AsnfsTer?)
c.5155dup (p.Ile1719AsnfsTer?)
c.1858dup (p.Ile620AsnfsTer?)
c.5359dup (p.Ile1787AsnfsTer?)
c.1683dup
c.1870dup (p.Ile624AsnfsTer?)
c.*5079dup (n.*5079dup)
c.226dup (p.Ile76AsnfsTer?)
c.769dup (p.Ile257AsnfsTer?)
c.-98-909dup (n.-98-909dup)
n.5432dup
n.5473dup
 ClinVar dbSNP gnomAD v4
17g.43051101delCA2499224359BRCA1c.5293del (p.Ile1765SerfsTer27)
c.5296del (p.Ile1766SerfsTer27)
c.5170del (p.Ile1724SerfsTer27)
c.5290del (p.Ile1764SerfsTer27)
c.5218del (p.Ile1740SerfsTer27)
c.1984del (p.Ile662SerfsTer27)
c.1846del (p.Ile616SerfsTer27)
c.4408del (p.Ile1470SerfsTer27)
c.5173del (p.Ile1725SerfsTer27)
c.5362del (p.Ile1788SerfsTer27)
c.5155del (p.Ile1719SerfsTer27)
c.1858del (p.Ile620SerfsTer27)
c.5359del (p.Ile1787SerfsTer27)
c.1683del
c.1870del (p.Ile624SerfsTer27)
c.*5079del (n.*5079del)
c.1984del (p.Ile662SerfsTer?)
c.226del (p.Ile76SerfsTer27)
c.769del (p.Ile257SerfsTer27)
c.-98-909del (n.-98-909del)
n.5432del
n.5473del
 ClinVar dbSNP
17g.43051100T>ACA10590958BRCA1c.5292A>T (p.Glu1764Asp)
c.5295A>T (p.Glu1765Asp)
c.5169A>T (p.Glu1723Asp)
c.5289A>T (p.Glu1763Asp)
c.5217A>T (p.Glu1739Asp)
c.1983A>T (p.Glu661Asp)
c.1845A>T (p.Glu615Asp)
c.4407A>T (p.Glu1469Asp)
c.5172A>T (p.Glu1724Asp)
c.5361A>T (p.Glu1787Asp)
c.5154A>T (p.Glu1718Asp)
c.1857A>T (p.Glu619Asp)
c.5358A>T (p.Glu1786Asp)
c.1682A>T
c.1869A>T (p.Glu623Asp)
c.*5078A>T (n.*5078A>T)
c.225A>T (p.Glu75Asp)
c.768A>T (p.Glu256Asp)
c.-98-910A>T (n.-98-910A>T)
n.5431A>T
n.5472A>T
 ClinVar dbSNP
17g.43051100T>CCA500143594BRCA1c.5292A>G (p.Glu1764=)
c.5295A>G (p.Glu1765=)
c.5169A>G (p.Glu1723=)
c.5289A>G (p.Glu1763=)
c.5217A>G (p.Glu1739=)
c.1983A>G (p.Glu661=)
c.1845A>G (p.Glu615=)
c.4407A>G (p.Glu1469=)
c.5172A>G (p.Glu1724=)
c.5361A>G (p.Glu1787=)
c.5154A>G (p.Glu1718=)
c.1857A>G (p.Glu619=)
c.5358A>G (p.Glu1786=)
c.1682A>G
c.1869A>G (p.Glu623=)
c.*5078A>G (n.*5078A>G)
c.225A>G (p.Glu75=)
c.768A>G (p.Glu256=)
c.-98-910A>G (n.-98-910A>G)
n.5431A>G
n.5472A>G
 ClinVar dbSNP
17g.43051100T>GCA10590959BRCA1c.5292A>C (p.Glu1764Asp)
c.5295A>C (p.Glu1765Asp)
c.5169A>C (p.Glu1723Asp)
c.5289A>C (p.Glu1763Asp)
c.5217A>C (p.Glu1739Asp)
c.1983A>C (p.Glu661Asp)
c.1845A>C (p.Glu615Asp)
c.4407A>C (p.Glu1469Asp)
c.5172A>C (p.Glu1724Asp)
c.5361A>C (p.Glu1787Asp)
c.5154A>C (p.Glu1718Asp)
c.1857A>C (p.Glu619Asp)
c.5358A>C (p.Glu1786Asp)
c.1682A>C
c.1869A>C (p.Glu623Asp)
c.*5078A>C (n.*5078A>C)
c.225A>C (p.Glu75Asp)
c.768A>C (p.Glu256Asp)
c.-98-910A>C (n.-98-910A>C)
n.5431A>C
n.5472A>C
 ClinVar dbSNP
17g.43051100T=CA2260763733BRCA1c.5292A= (p.Glu1764=)
c.5295A= (p.Glu1765=)
c.5169A= (p.Glu1723=)
c.5289A= (p.Glu1763=)
c.5217A= (p.Glu1739=)
c.1983A= (p.Glu661=)
c.1845A= (p.Glu615=)
c.4407A= (p.Glu1469=)
c.5172A= (p.Glu1724=)
c.5361A= (p.Glu1787=)
c.5154A= (p.Glu1718=)
c.1857A= (p.Glu619=)
c.5358A= (p.Glu1786=)
c.1682A=
c.1869A= (p.Glu623=)
c.*5078A= (n.*5078A=)
c.225A= (p.Glu75=)
c.768A= (p.Glu256=)
c.-98-910A= (n.-98-910A=)
n.5431A=
n.5472A=
17g.43051101T>ACA10590960BRCA1c.5291A>T (p.Glu1764Val)
c.5294A>T (p.Glu1765Val)
c.5168A>T (p.Glu1723Val)
c.5288A>T (p.Glu1763Val)
c.5216A>T (p.Glu1739Val)
c.1982A>T (p.Glu661Val)
c.1844A>T (p.Glu615Val)
c.4406A>T (p.Glu1469Val)
c.5171A>T (p.Glu1724Val)
c.5360A>T (p.Glu1787Val)
c.5153A>T (p.Glu1718Val)
c.1856A>T (p.Glu619Val)
c.5357A>T (p.Glu1786Val)
c.1681A>T
c.1868A>T (p.Glu623Val)
c.*5077A>T (n.*5077A>T)
c.224A>T (p.Glu75Val)
c.767A>T (p.Glu256Val)
c.-98-911A>T (n.-98-911A>T)
n.5430A>T
n.5471A>T
 ClinVar dbSNP
17g.43051101T>CCA10590961BRCA1c.5291A>G (p.Glu1764Gly)
c.5294A>G (p.Glu1765Gly)
c.5168A>G (p.Glu1723Gly)
c.5288A>G (p.Glu1763Gly)
c.5216A>G (p.Glu1739Gly)
c.1982A>G (p.Glu661Gly)
c.1844A>G (p.Glu615Gly)
c.4406A>G (p.Glu1469Gly)
c.5171A>G (p.Glu1724Gly)
c.5360A>G (p.Glu1787Gly)
c.5153A>G (p.Glu1718Gly)
c.1856A>G (p.Glu619Gly)
c.5357A>G (p.Glu1786Gly)
c.1681A>G
c.1868A>G (p.Glu623Gly)
c.*5077A>G (n.*5077A>G)
c.224A>G (p.Glu75Gly)
c.767A>G (p.Glu256Gly)
c.-98-911A>G (n.-98-911A>G)
n.5430A>G
n.5471A>G
 ClinVar dbSNP
17g.43051101T>GCA10590962BRCA1c.5291A>C (p.Glu1764Ala)
c.5294A>C (p.Glu1765Ala)
c.5168A>C (p.Glu1723Ala)
c.5288A>C (p.Glu1763Ala)
c.5216A>C (p.Glu1739Ala)
c.1982A>C (p.Glu661Ala)
c.1844A>C (p.Glu615Ala)
c.4406A>C (p.Glu1469Ala)
c.5171A>C (p.Glu1724Ala)
c.5360A>C (p.Glu1787Ala)
c.5153A>C (p.Glu1718Ala)
c.1856A>C (p.Glu619Ala)
c.5357A>C (p.Glu1786Ala)
c.1681A>C
c.1868A>C (p.Glu623Ala)
c.*5077A>C (n.*5077A>C)
c.224A>C (p.Glu75Ala)
c.767A>C (p.Glu256Ala)
c.-98-911A>C (n.-98-911A>C)
n.5430A>C
n.5471A>C
 ClinVar dbSNP
17g.43051101T=CA2260763734BRCA1c.5291A= (p.Glu1764=)
c.5294A= (p.Glu1765=)
c.5168A= (p.Glu1723=)
c.5288A= (p.Glu1763=)
c.5216A= (p.Glu1739=)
c.1982A= (p.Glu661=)
c.1844A= (p.Glu615=)
c.4406A= (p.Glu1469=)
c.5171A= (p.Glu1724=)
c.5360A= (p.Glu1787=)
c.5153A= (p.Glu1718=)
c.1856A= (p.Glu619=)
c.5357A= (p.Glu1786=)
c.1681A=
c.1868A= (p.Glu623=)
c.*5077A= (n.*5077A=)
c.224A= (p.Glu75=)
c.767A= (p.Glu256=)
c.-98-911A= (n.-98-911A=)
n.5430A=
n.5471A=
17g.43051102C>ACA003451BRCA1c.5290G>T (p.Glu1764Ter)
c.5293G>T (p.Glu1765Ter)
c.5167G>T (p.Glu1723Ter)
c.5287G>T (p.Glu1763Ter)
c.5215G>T (p.Glu1739Ter)
c.1981G>T (p.Glu661Ter)
c.1843G>T (p.Glu615Ter)
c.4405G>T (p.Glu1469Ter)
c.5170G>T (p.Glu1724Ter)
c.5359G>T (p.Glu1787Ter)
c.5152G>T (p.Glu1718Ter)
c.1855G>T (p.Glu619Ter)
c.5356G>T (p.Glu1786Ter)
c.1680G>T
c.1867G>T (p.Glu623Ter)
c.*5076G>T (n.*5076G>T)
c.223G>T (p.Glu75Ter)
c.766G>T (p.Glu256Ter)
c.-98-912G>T (n.-98-912G>T)
n.5429G>T
n.5470G>T
 ClinVar dbSNP
17g.43051102C=CA2260763735BRCA1c.5290G= (p.Glu1764=)
c.5293G= (p.Glu1765=)
c.5167G= (p.Glu1723=)
c.5287G= (p.Glu1763=)
c.5215G= (p.Glu1739=)
c.1981G= (p.Glu661=)
c.1843G= (p.Glu615=)
c.4405G= (p.Glu1469=)
c.5170G= (p.Glu1724=)
c.5359G= (p.Glu1787=)
c.5152G= (p.Glu1718=)
c.1855G= (p.Glu619=)
c.5356G= (p.Glu1786=)
c.1680G=
c.1867G= (p.Glu623=)
c.*5076G= (n.*5076G=)
c.223G= (p.Glu75=)
c.766G= (p.Glu256=)
c.-98-912G= (n.-98-912G=)
n.5429G=
n.5470G=
17g.43051102C>GCA10590963BRCA1c.5290G>C (p.Glu1764Gln)
c.5293G>C (p.Glu1765Gln)
c.5167G>C (p.Glu1723Gln)
c.5287G>C (p.Glu1763Gln)
c.5215G>C (p.Glu1739Gln)
c.1981G>C (p.Glu661Gln)
c.1843G>C (p.Glu615Gln)
c.4405G>C (p.Glu1469Gln)
c.5170G>C (p.Glu1724Gln)
c.5359G>C (p.Glu1787Gln)
c.5152G>C (p.Glu1718Gln)
c.1855G>C (p.Glu619Gln)
c.5356G>C (p.Glu1786Gln)
c.1680G>C
c.1867G>C (p.Glu623Gln)
c.*5076G>C (n.*5076G>C)
c.223G>C (p.Glu75Gln)
c.766G>C (p.Glu256Gln)
c.-98-912G>C (n.-98-912G>C)
n.5429G>C
n.5470G>C
 ClinVar dbSNP
17g.43051102C>TCA10590964BRCA1c.5290G>A (p.Glu1764Lys)
c.5293G>A (p.Glu1765Lys)
c.5167G>A (p.Glu1723Lys)
c.5287G>A (p.Glu1763Lys)
c.5215G>A (p.Glu1739Lys)
c.1981G>A (p.Glu661Lys)
c.1843G>A (p.Glu615Lys)
c.4405G>A (p.Glu1469Lys)
c.5170G>A (p.Glu1724Lys)
c.5359G>A (p.Glu1787Lys)
c.5152G>A (p.Glu1718Lys)
c.1855G>A (p.Glu619Lys)
c.5356G>A (p.Glu1786Lys)
c.1680G>A
c.1867G>A (p.Glu623Lys)
c.*5076G>A (n.*5076G>A)
c.223G>A (p.Glu75Lys)
c.766G>A (p.Glu256Lys)
c.-98-912G>A (n.-98-912G>A)
n.5429G>A
n.5470G>A
 ClinVar dbSNP
17g.43051102_43051103insAGCA2580094090BRCA1c.5289_5290insCT (p.Glu1764LeufsTer29)
c.5292_5293insCT (p.Glu1765LeufsTer29)
c.5166_5167insCT (p.Glu1723LeufsTer29)
c.5286_5287insCT (p.Glu1763LeufsTer29)
c.5214_5215insCT (p.Glu1739LeufsTer29)
c.1980_1981insCT (p.Glu661LeufsTer29)
c.1842_1843insCT (p.Glu615LeufsTer29)
c.4404_4405insCT (p.Glu1469LeufsTer29)
c.5169_5170insCT (p.Glu1724LeufsTer29)
c.5358_5359insCT (p.Glu1787LeufsTer29)
c.5151_5152insCT (p.Glu1718LeufsTer29)
c.1854_1855insCT (p.Glu619LeufsTer29)
c.5355_5356insCT (p.Glu1786LeufsTer29)
c.1679_1680insCT
c.1866_1867insCT (p.Glu623LeufsTer29)
c.*5075_*5076insCT (n.*5075_*5076insCT)
c.1980_1981insCT (p.Glu661LeufsTer?)
c.222_223insCT (p.Glu75LeufsTer29)
c.765_766insCT (p.Glu256LeufsTer29)
c.-98-913_-98-912insCT (n.-98-913_-98-912insCT)
n.5428_5429insCT
n.5469_5470insCT
 ClinVar
17g.43051103T>ACA500143595BRCA1c.5289A>T (p.Leu1763=)
c.5292A>T (p.Leu1764=)
c.5166A>T (p.Leu1722=)
c.5286A>T (p.Leu1762=)
c.5214A>T (p.Leu1738=)
c.1980A>T (p.Leu660=)
c.1842A>T (p.Leu614=)
c.4404A>T (p.Leu1468=)
c.5169A>T (p.Leu1723=)
c.5358A>T (p.Leu1786=)
c.5151A>T (p.Leu1717=)
c.1854A>T (p.Leu618=)
c.5355A>T (p.Leu1785=)
c.1679A>T
c.1866A>T (p.Leu622=)
c.*5075A>T (n.*5075A>T)
c.222A>T (p.Leu74=)
c.765A>T (p.Leu255=)
c.-98-913A>T (n.-98-913A>T)
n.5428A>T
n.5469A>T
 ClinVar dbSNP
17g.43051103T>CCA500143596BRCA1c.5289A>G (p.Leu1763=)
c.5292A>G (p.Leu1764=)
c.5166A>G (p.Leu1722=)
c.5286A>G (p.Leu1762=)
c.5214A>G (p.Leu1738=)
c.1980A>G (p.Leu660=)
c.1842A>G (p.Leu614=)
c.4404A>G (p.Leu1468=)
c.5169A>G (p.Leu1723=)
c.5358A>G (p.Leu1786=)
c.5151A>G (p.Leu1717=)
c.1854A>G (p.Leu618=)
c.5355A>G (p.Leu1785=)
c.1679A>G
c.1866A>G (p.Leu622=)
c.*5075A>G (n.*5075A>G)
c.222A>G (p.Leu74=)
c.765A>G (p.Leu255=)
c.-98-913A>G (n.-98-913A>G)
n.5428A>G
n.5469A>G
 ClinVar dbSNP gnomAD v4
17g.43051103T>GCA500143597BRCA1c.5289A>C (p.Leu1763=)
c.5292A>C (p.Leu1764=)
c.5166A>C (p.Leu1722=)
c.5286A>C (p.Leu1762=)
c.5214A>C (p.Leu1738=)
c.1980A>C (p.Leu660=)
c.1842A>C (p.Leu614=)
c.4404A>C (p.Leu1468=)
c.5169A>C (p.Leu1723=)
c.5358A>C (p.Leu1786=)
c.5151A>C (p.Leu1717=)
c.1854A>C (p.Leu618=)
c.5355A>C (p.Leu1785=)
c.1679A>C
c.1866A>C (p.Leu622=)
c.*5075A>C (n.*5075A>C)
c.222A>C (p.Leu74=)
c.765A>C (p.Leu255=)
c.-98-913A>C (n.-98-913A>C)
n.5428A>C
n.5469A>C
 ClinVar dbSNP
17g.43051103T=CA2260763736BRCA1c.5289A= (p.Leu1763=)
c.5292A= (p.Leu1764=)
c.5166A= (p.Leu1722=)
c.5286A= (p.Leu1762=)
c.5214A= (p.Leu1738=)
c.1980A= (p.Leu660=)
c.1842A= (p.Leu614=)
c.4404A= (p.Leu1468=)
c.5169A= (p.Leu1723=)
c.5358A= (p.Leu1786=)
c.5151A= (p.Leu1717=)
c.1854A= (p.Leu618=)
c.5355A= (p.Leu1785=)
c.1679A=
c.1866A= (p.Leu622=)
c.*5075A= (n.*5075A=)
c.222A= (p.Leu74=)
c.765A= (p.Leu255=)
c.-98-913A= (n.-98-913A=)
n.5428A=
n.5469A=
17g.43051104A=CA2260763738BRCA1c.5288T= (p.Leu1763=)
c.5291T= (p.Leu1764=)
c.5165T= (p.Leu1722=)
c.5285T= (p.Leu1762=)
c.5213T= (p.Leu1738=)
c.1979T= (p.Leu660=)
c.1841T= (p.Leu614=)
c.4403T= (p.Leu1468=)
c.5168T= (p.Leu1723=)
c.5357T= (p.Leu1786=)
c.5150T= (p.Leu1717=)
c.1853T= (p.Leu618=)
c.5354T= (p.Leu1785=)
c.1678T=
c.1865T= (p.Leu622=)
c.*5074T= (n.*5074T=)
c.221T= (p.Leu74=)
c.764T= (p.Leu255=)
c.-98-914T= (n.-98-914T=)
n.5427T=
n.5468T=
17g.43051104A>CCA10590965BRCA1c.5288T>G (p.Leu1763Arg)
c.5291T>G (p.Leu1764Arg)
c.5165T>G (p.Leu1722Arg)
c.5285T>G (p.Leu1762Arg)
c.5213T>G (p.Leu1738Arg)
c.1979T>G (p.Leu660Arg)
c.1841T>G (p.Leu614Arg)
c.4403T>G (p.Leu1468Arg)
c.5168T>G (p.Leu1723Arg)
c.5357T>G (p.Leu1786Arg)
c.5150T>G (p.Leu1717Arg)
c.1853T>G (p.Leu618Arg)
c.5354T>G (p.Leu1785Arg)
c.1678T>G
c.1865T>G (p.Leu622Arg)
c.*5074T>G (n.*5074T>G)
c.221T>G (p.Leu74Arg)
c.764T>G (p.Leu255Arg)
c.-98-914T>G (n.-98-914T>G)
n.5427T>G
n.5468T>G
17g.43051104A>GCA003449BRCA1c.5288T>C (p.Leu1763Pro)
c.5291T>C (p.Leu1764Pro)
c.5165T>C (p.Leu1722Pro)
c.5285T>C (p.Leu1762Pro)
c.5213T>C (p.Leu1738Pro)
c.1979T>C (p.Leu660Pro)
c.1841T>C (p.Leu614Pro)
c.4403T>C (p.Leu1468Pro)
c.5168T>C (p.Leu1723Pro)
c.5357T>C (p.Leu1786Pro)
c.5150T>C (p.Leu1717Pro)
c.1853T>C (p.Leu618Pro)
c.5354T>C (p.Leu1785Pro)
c.1678T>C
c.1865T>C (p.Leu622Pro)
c.*5074T>C (n.*5074T>C)
c.221T>C (p.Leu74Pro)
c.764T>C (p.Leu255Pro)
c.-98-914T>C (n.-98-914T>C)
n.5427T>C
n.5468T>C
 ClinVar dbSNP
17g.43051104A>TCA10590966BRCA1c.5288T>A (p.Leu1763Gln)
c.5291T>A (p.Leu1764Gln)
c.5165T>A (p.Leu1722Gln)
c.5285T>A (p.Leu1762Gln)
c.5213T>A (p.Leu1738Gln)
c.1979T>A (p.Leu660Gln)
c.1841T>A (p.Leu614Gln)
c.4403T>A (p.Leu1468Gln)
c.5168T>A (p.Leu1723Gln)
c.5357T>A (p.Leu1786Gln)
c.5150T>A (p.Leu1717Gln)
c.1853T>A (p.Leu618Gln)
c.5354T>A (p.Leu1785Gln)
c.1678T>A
c.1865T>A (p.Leu622Gln)
c.*5074T>A (n.*5074T>A)
c.221T>A (p.Leu74Gln)
c.764T>A (p.Leu255Gln)
c.-98-914T>A (n.-98-914T>A)
n.5427T>A
n.5468T>A
 ClinVar dbSNP
17g.43051104_43051105delCA2695226119BRCA1c.5287_5288del (p.Leu1763ArgfsTer?)
c.5290_5291del (p.Leu1764ArgfsTer?)
c.5164_5165del (p.Leu1722ArgfsTer?)
c.5284_5285del (p.Leu1762ArgfsTer?)
c.5212_5213del (p.Leu1738ArgfsTer?)
c.1978_1979del (p.Leu660ArgfsTer?)
c.1840_1841del (p.Leu614ArgfsTer?)
c.4402_4403del (p.Leu1468ArgfsTer?)
c.5167_5168del (p.Leu1723ArgfsTer?)
c.5356_5357del (p.Leu1786ArgfsTer?)
c.5149_5150del (p.Leu1717ArgfsTer?)
c.1852_1853del (p.Leu618ArgfsTer?)
c.5353_5354del (p.Leu1785ArgfsTer?)
c.1677_1678del
c.1864_1865del (p.Leu622ArgfsTer?)
c.*5073_*5074del (n.*5073_*5074del)
c.220_221del (p.Leu74ArgfsTer?)
c.763_764del (p.Leu255ArgfsTer?)
c.-98-915_-98-914del (n.-98-915_-98-914del)
n.5426_5427del
n.5467_5468del
17g.43051104_43051105delinsAGCA2260763737BRCA1c.5287_5288delinsCT (p.Leu1763=)
c.5290_5291delinsCT (p.Leu1764=)
c.5164_5165delinsCT (p.Leu1722=)
c.5284_5285delinsCT (p.Leu1762=)
c.5212_5213delinsCT (p.Leu1738=)
c.1978_1979delinsCT (p.Leu660=)
c.1840_1841delinsCT (p.Leu614=)
c.4402_4403delinsCT (p.Leu1468=)
c.5167_5168delinsCT (p.Leu1723=)
c.5356_5357delinsCT (p.Leu1786=)
c.5149_5150delinsCT (p.Leu1717=)
c.1852_1853delinsCT (p.Leu618=)
c.5353_5354delinsCT (p.Leu1785=)
c.1677_1678delinsCT
c.1864_1865delinsCT (p.Leu622=)
c.*5073_*5074delinsCT (n.*5073_*5074delinsCT)
c.220_221delinsCT (p.Leu74=)
c.763_764delinsCT (p.Leu255=)
c.-98-915_-98-914delinsCT (n.-98-915_-98-914delinsCT)
n.5426_5427delinsCT
n.5467_5468delinsCT
17g.43051105delCA1139665559BRCA1c.5287del (p.Leu1763Ter)
c.5290del (p.Leu1764Ter)
c.5164del (p.Leu1722Ter)
c.5284del (p.Leu1762Ter)
c.5212del (p.Leu1738Ter)
c.1978del (p.Leu660Ter)
c.1840del (p.Leu614Ter)
c.4402del (p.Leu1468Ter)
c.5167del (p.Leu1723Ter)
c.5356del (p.Leu1786Ter)
c.5149del (p.Leu1717Ter)
c.1852del (p.Leu618Ter)
c.5353del (p.Leu1785Ter)
c.1677del
c.1864del (p.Leu622Ter)
c.*5073del (n.*5073del)
c.220del (p.Leu74Ter)
c.763del (p.Leu255Ter)
c.-98-915del (n.-98-915del)
n.5426del
n.5467del
 ClinVar dbSNP
17g.43051105G>ACA500143598BRCA1c.5287C>T (p.Leu1763=)
c.5290C>T (p.Leu1764=)
c.5164C>T (p.Leu1722=)
c.5284C>T (p.Leu1762=)
c.5212C>T (p.Leu1738=)
c.1978C>T (p.Leu660=)
c.1840C>T (p.Leu614=)
c.4402C>T (p.Leu1468=)
c.5167C>T (p.Leu1723=)
c.5356C>T (p.Leu1786=)
c.5149C>T (p.Leu1717=)
c.1852C>T (p.Leu618=)
c.5353C>T (p.Leu1785=)
c.1677C>T
c.1864C>T (p.Leu622=)
c.*5073C>T (n.*5073C>T)
c.220C>T (p.Leu74=)
c.763C>T (p.Leu255=)
c.-98-915C>T (n.-98-915C>T)
n.5426C>T
n.5467C>T
 dbSNP gnomAD v2 gnomAD v4
17g.43051105G>CCA10590967BRCA1c.5287C>G (p.Leu1763Val)
c.5290C>G (p.Leu1764Val)
c.5164C>G (p.Leu1722Val)
c.5284C>G (p.Leu1762Val)
c.5212C>G (p.Leu1738Val)
c.1978C>G (p.Leu660Val)
c.1840C>G (p.Leu614Val)
c.4402C>G (p.Leu1468Val)
c.5167C>G (p.Leu1723Val)
c.5356C>G (p.Leu1786Val)
c.5149C>G (p.Leu1717Val)
c.1852C>G (p.Leu618Val)
c.5353C>G (p.Leu1785Val)
c.1677C>G
c.1864C>G (p.Leu622Val)
c.*5073C>G (n.*5073C>G)
c.220C>G (p.Leu74Val)
c.763C>G (p.Leu255Val)
c.-98-915C>G (n.-98-915C>G)
n.5426C>G
n.5467C>G
 ClinVar dbSNP
17g.43051105G=CA2260763740BRCA1c.5287C= (p.Leu1763=)
c.5290C= (p.Leu1764=)
c.5164C= (p.Leu1722=)
c.5284C= (p.Leu1762=)
c.5212C= (p.Leu1738=)
c.1978C= (p.Leu660=)
c.1840C= (p.Leu614=)
c.4402C= (p.Leu1468=)
c.5167C= (p.Leu1723=)
c.5356C= (p.Leu1786=)
c.5149C= (p.Leu1717=)
c.1852C= (p.Leu618=)
c.5353C= (p.Leu1785=)
c.1677C=
c.1864C= (p.Leu622=)
c.*5073C= (n.*5073C=)
c.220C= (p.Leu74=)
c.763C= (p.Leu255=)
c.-98-915C= (n.-98-915C=)
n.5426C=
n.5467C=
17g.43051105G>TCA501227BRCA1c.5287C>A (p.Leu1763Ile)
c.5290C>A (p.Leu1764Ile)
c.5164C>A (p.Leu1722Ile)
c.5284C>A (p.Leu1762Ile)
c.5212C>A (p.Leu1738Ile)
c.1978C>A (p.Leu660Ile)
c.1840C>A (p.Leu614Ile)
c.4402C>A (p.Leu1468Ile)
c.5167C>A (p.Leu1723Ile)
c.5356C>A (p.Leu1786Ile)
c.5149C>A (p.Leu1717Ile)
c.1852C>A (p.Leu618Ile)
c.5353C>A (p.Leu1785Ile)
c.1677C>A
c.1864C>A (p.Leu622Ile)
c.*5073C>A (n.*5073C>A)
c.220C>A (p.Leu74Ile)
c.763C>A (p.Leu255Ile)
c.-98-915C>A (n.-98-915C>A)
n.5426C>A
n.5467C>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43051105_43051106delinsGCCA2260763739BRCA1c.5286_5287delinsGC (p.Gly1762=)
c.5289_5290delinsGC (p.Gly1763=)
c.5163_5164delinsGC (p.Gly1721=)
c.5283_5284delinsGC (p.Gly1761=)
c.5211_5212delinsGC (p.Gly1737=)
c.1977_1978delinsGC (p.Gly659=)
c.1839_1840delinsGC (p.Gly613=)
c.4401_4402delinsGC (p.Gly1467=)
c.5166_5167delinsGC (p.Gly1722=)
c.5355_5356delinsGC (p.Gly1785=)
c.5148_5149delinsGC (p.Gly1716=)
c.1851_1852delinsGC (p.Gly617=)
c.5352_5353delinsGC (p.Gly1784=)
c.1676_1677delinsGC
c.1863_1864delinsGC (p.Gly621=)
c.*5072_*5073delinsGC (n.*5072_*5073delinsGC)
c.219_220delinsGC (p.Gly73=)
c.762_763delinsGC (p.Gly254=)
c.-98-916_-98-915delinsGC (n.-98-916_-98-915delinsGC)
n.5425_5426delinsGC
n.5466_5467delinsGC
17g.43051106C>ACA500143599BRCA1c.5286G>T (p.Gly1762=)
c.5289G>T (p.Gly1763=)
c.5163G>T (p.Gly1721=)
c.5283G>T (p.Gly1761=)
c.5211G>T (p.Gly1737=)
c.1977G>T (p.Gly659=)
c.1839G>T (p.Gly613=)
c.4401G>T (p.Gly1467=)
c.5166G>T (p.Gly1722=)
c.5355G>T (p.Gly1785=)
c.5148G>T (p.Gly1716=)
c.1851G>T (p.Gly617=)
c.5352G>T (p.Gly1784=)
c.1676G>T
c.1863G>T (p.Gly621=)
c.*5072G>T (n.*5072G>T)
c.219G>T (p.Gly73=)
c.762G>T (p.Gly254=)
c.-98-916G>T (n.-98-916G>T)
n.5425G>T
n.5466G>T
 ClinVar dbSNP
17g.43051106C=CA2260763741BRCA1c.5286G= (p.Gly1762=)
c.5289G= (p.Gly1763=)
c.5163G= (p.Gly1721=)
c.5283G= (p.Gly1761=)
c.5211G= (p.Gly1737=)
c.1977G= (p.Gly659=)
c.1839G= (p.Gly613=)
c.4401G= (p.Gly1467=)
c.5166G= (p.Gly1722=)
c.5355G= (p.Gly1785=)
c.5148G= (p.Gly1716=)
c.1851G= (p.Gly617=)
c.5352G= (p.Gly1784=)
c.1676G=
c.1863G= (p.Gly621=)
c.*5072G= (n.*5072G=)
c.219G= (p.Gly73=)
c.762G= (p.Gly254=)
c.-98-916G= (n.-98-916G=)
n.5425G=
n.5466G=
17g.43051106C>GCA290819722BRCA1c.5286G>C (p.Gly1762=)
c.5289G>C (p.Gly1763=)
c.5163G>C (p.Gly1721=)
c.5283G>C (p.Gly1761=)
c.5211G>C (p.Gly1737=)
c.1977G>C (p.Gly659=)
c.1839G>C (p.Gly613=)
c.4401G>C (p.Gly1467=)
c.5166G>C (p.Gly1722=)
c.5355G>C (p.Gly1785=)
c.5148G>C (p.Gly1716=)
c.1851G>C (p.Gly617=)
c.5352G>C (p.Gly1784=)
c.1676G>C
c.1863G>C (p.Gly621=)
c.*5072G>C (n.*5072G>C)
c.219G>C (p.Gly73=)
c.762G>C (p.Gly254=)
c.-98-916G>C (n.-98-916G>C)
n.5425G>C
n.5466G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43051106C>TCA500143600BRCA1c.5286G>A (p.Gly1762=)
c.5289G>A (p.Gly1763=)
c.5163G>A (p.Gly1721=)
c.5283G>A (p.Gly1761=)
c.5211G>A (p.Gly1737=)
c.1977G>A (p.Gly659=)
c.1839G>A (p.Gly613=)
c.4401G>A (p.Gly1467=)
c.5166G>A (p.Gly1722=)
c.5355G>A (p.Gly1785=)
c.5148G>A (p.Gly1716=)
c.1851G>A (p.Gly617=)
c.5352G>A (p.Gly1784=)
c.1676G>A
c.1863G>A (p.Gly621=)
c.*5072G>A (n.*5072G>A)
c.219G>A (p.Gly73=)
c.762G>A (p.Gly254=)
c.-98-916G>A (n.-98-916G>A)
n.5425G>A
n.5466G>A
 ClinVar dbSNP gnomAD v4
17g.43051110dupCA003446BRCA1c.5286dup (p.Leu1763AlafsTer?)
c.5289dup (p.Leu1764AlafsTer?)
c.5163dup (p.Leu1722AlafsTer?)
c.5283dup (p.Leu1762AlafsTer?)
c.5211dup (p.Leu1738AlafsTer?)
c.1977dup (p.Leu660AlafsTer?)
c.1839dup (p.Leu614AlafsTer?)
c.4401dup (p.Leu1468AlafsTer?)
c.5166dup (p.Leu1723AlafsTer?)
c.5355dup (p.Leu1786AlafsTer?)
c.5148dup (p.Leu1717AlafsTer?)
c.1851dup (p.Leu618AlafsTer?)
c.5352dup (p.Leu1785AlafsTer?)
c.1676dup
c.1863dup (p.Leu622AlafsTer?)
c.*5072dup (n.*5072dup)
c.219dup (p.Leu74AlafsTer?)
c.762dup (p.Leu255AlafsTer?)
c.-98-916dup (n.-98-916dup)
n.5425dup
n.5466dup
 ClinVar dbSNP
17g.43051110delCA003447BRCA1c.5286del (p.Leu1763Ter)
c.5289del (p.Leu1764Ter)
c.5163del (p.Leu1722Ter)
c.5283del (p.Leu1762Ter)
c.5211del (p.Leu1738Ter)
c.1977del (p.Leu660Ter)
c.1839del (p.Leu614Ter)
c.4401del (p.Leu1468Ter)
c.5166del (p.Leu1723Ter)
c.5355del (p.Leu1786Ter)
c.5148del (p.Leu1717Ter)
c.1851del (p.Leu618Ter)
c.5352del (p.Leu1785Ter)
c.1676del
c.1863del (p.Leu622Ter)
c.*5072del (n.*5072del)
c.219del (p.Leu74Ter)
c.762del (p.Leu255Ter)
c.-98-916del (n.-98-916del)
n.5425del
n.5466del
 ClinVar dbSNP
17g.43051107C>ACA003445BRCA1c.5285G>T (p.Gly1762Val)
c.5288G>T (p.Gly1763Val)
c.5162G>T (p.Gly1721Val)
c.5282G>T (p.Gly1761Val)
c.5210G>T (p.Gly1737Val)
c.1976G>T (p.Gly659Val)
c.1838G>T (p.Gly613Val)
c.4400G>T (p.Gly1467Val)
c.5165G>T (p.Gly1722Val)
c.5354G>T (p.Gly1785Val)
c.5147G>T (p.Gly1716Val)
c.1850G>T (p.Gly617Val)
c.5351G>T (p.Gly1784Val)
c.1675G>T
c.1862G>T (p.Gly621Val)
c.*5071G>T (n.*5071G>T)
c.218G>T (p.Gly73Val)
c.761G>T (p.Gly254Val)
c.-98-917G>T (n.-98-917G>T)
n.5424G>T
n.5465G>T
 ClinVar dbSNP gnomAD v4
17g.43051107C=CA2260763742BRCA1c.5285G= (p.Gly1762=)
c.5288G= (p.Gly1763=)
c.5162G= (p.Gly1721=)
c.5282G= (p.Gly1761=)
c.5210G= (p.Gly1737=)
c.1976G= (p.Gly659=)
c.1838G= (p.Gly613=)
c.4400G= (p.Gly1467=)
c.5165G= (p.Gly1722=)
c.5354G= (p.Gly1785=)
c.5147G= (p.Gly1716=)
c.1850G= (p.Gly617=)
c.5351G= (p.Gly1784=)
c.1675G=
c.1862G= (p.Gly621=)
c.*5071G= (n.*5071G=)
c.218G= (p.Gly73=)
c.761G= (p.Gly254=)
c.-98-917G= (n.-98-917G=)
n.5424G=
n.5465G=
17g.43051107C>GCA10590968BRCA1c.5285G>C (p.Gly1762Ala)
c.5288G>C (p.Gly1763Ala)
c.5162G>C (p.Gly1721Ala)
c.5282G>C (p.Gly1761Ala)
c.5210G>C (p.Gly1737Ala)
c.1976G>C (p.Gly659Ala)
c.1838G>C (p.Gly613Ala)
c.4400G>C (p.Gly1467Ala)
c.5165G>C (p.Gly1722Ala)
c.5354G>C (p.Gly1785Ala)
c.5147G>C (p.Gly1716Ala)
c.1850G>C (p.Gly617Ala)
c.5351G>C (p.Gly1784Ala)
c.1675G>C
c.1862G>C (p.Gly621Ala)
c.*5071G>C (n.*5071G>C)
c.218G>C (p.Gly73Ala)
c.761G>C (p.Gly254Ala)
c.-98-917G>C (n.-98-917G>C)
n.5424G>C
n.5465G>C
 ClinVar dbSNP
17g.43051107C>TCA10590969BRCA1c.5285G>A (p.Gly1762Glu)
c.5288G>A (p.Gly1763Glu)
c.5162G>A (p.Gly1721Glu)
c.5282G>A (p.Gly1761Glu)
c.5210G>A (p.Gly1737Glu)
c.1976G>A (p.Gly659Glu)
c.1838G>A (p.Gly613Glu)
c.4400G>A (p.Gly1467Glu)
c.5165G>A (p.Gly1722Glu)
c.5354G>A (p.Gly1785Glu)
c.5147G>A (p.Gly1716Glu)
c.1850G>A (p.Gly617Glu)
c.5351G>A (p.Gly1784Glu)
c.1675G>A
c.1862G>A (p.Gly621Glu)
c.*5071G>A (n.*5071G>A)
c.218G>A (p.Gly73Glu)
c.761G>A (p.Gly254Glu)
c.-98-917G>A (n.-98-917G>A)
n.5424G>A
n.5465G>A
 ClinVar dbSNP
17g.43051108C>ACA10590970BRCA1c.5284G>T (p.Gly1762Trp)
c.5287G>T (p.Gly1763Trp)
c.5161G>T (p.Gly1721Trp)
c.5281G>T (p.Gly1761Trp)
c.5209G>T (p.Gly1737Trp)
c.1975G>T (p.Gly659Trp)
c.1837G>T (p.Gly613Trp)
c.4399G>T (p.Gly1467Trp)
c.5164G>T (p.Gly1722Trp)
c.5353G>T (p.Gly1785Trp)
c.5146G>T (p.Gly1716Trp)
c.1849G>T (p.Gly617Trp)
c.5350G>T (p.Gly1784Trp)
c.1674G>T
c.1861G>T (p.Gly621Trp)
c.*5070G>T (n.*5070G>T)
c.217G>T (p.Gly73Trp)
c.760G>T (p.Gly254Trp)
c.-98-918G>T (n.-98-918G>T)
n.5423G>T
n.5464G>T
 dbSNP
17g.43051108C=CA2260763743BRCA1c.5284G= (p.Gly1762=)
c.5287G= (p.Gly1763=)
c.5161G= (p.Gly1721=)
c.5281G= (p.Gly1761=)
c.5209G= (p.Gly1737=)
c.1975G= (p.Gly659=)
c.1837G= (p.Gly613=)
c.4399G= (p.Gly1467=)
c.5164G= (p.Gly1722=)
c.5353G= (p.Gly1785=)
c.5146G= (p.Gly1716=)
c.1849G= (p.Gly617=)
c.5350G= (p.Gly1784=)
c.1674G=
c.1861G= (p.Gly621=)
c.*5070G= (n.*5070G=)
c.217G= (p.Gly73=)
c.760G= (p.Gly254=)
c.-98-918G= (n.-98-918G=)
n.5423G=
n.5464G=
17g.43051108C>GCA10580488BRCA1c.5284G>C (p.Gly1762Arg)
c.5287G>C (p.Gly1763Arg)
c.5161G>C (p.Gly1721Arg)
c.5281G>C (p.Gly1761Arg)
c.5209G>C (p.Gly1737Arg)
c.1975G>C (p.Gly659Arg)
c.1837G>C (p.Gly613Arg)
c.4399G>C (p.Gly1467Arg)
c.5164G>C (p.Gly1722Arg)
c.5353G>C (p.Gly1785Arg)
c.5146G>C (p.Gly1716Arg)
c.1849G>C (p.Gly617Arg)
c.5350G>C (p.Gly1784Arg)
c.1674G>C
c.1861G>C (p.Gly621Arg)
c.*5070G>C (n.*5070G>C)
c.217G>C (p.Gly73Arg)
c.760G>C (p.Gly254Arg)
c.-98-918G>C (n.-98-918G>C)
n.5423G>C
n.5464G>C
 ClinVar dbSNP
17g.43051108C>TCA10590971BRCA1c.5284G>A (p.Gly1762Arg)
c.5287G>A (p.Gly1763Arg)
c.5161G>A (p.Gly1721Arg)
c.5281G>A (p.Gly1761Arg)
c.5209G>A (p.Gly1737Arg)
c.1975G>A (p.Gly659Arg)
c.1837G>A (p.Gly613Arg)
c.4399G>A (p.Gly1467Arg)
c.5164G>A (p.Gly1722Arg)
c.5353G>A (p.Gly1785Arg)
c.5146G>A (p.Gly1716Arg)
c.1849G>A (p.Gly617Arg)
c.5350G>A (p.Gly1784Arg)
c.1674G>A
c.1861G>A (p.Gly621Arg)
c.*5070G>A (n.*5070G>A)
c.217G>A (p.Gly73Arg)
c.760G>A (p.Gly254Arg)
c.-98-918G>A (n.-98-918G>A)
n.5423G>A
n.5464G>A
 dbSNP
17g.43051109C>ACA10590972BRCA1c.5283G>T (p.Arg1761Ser)
c.5286G>T (p.Arg1762Ser)
c.5160G>T (p.Arg1720Ser)
c.5280G>T (p.Arg1760Ser)
c.5208G>T (p.Arg1736Ser)
c.1974G>T (p.Arg658Ser)
c.1836G>T (p.Arg612Ser)
c.4398G>T (p.Arg1466Ser)
c.5163G>T (p.Arg1721Ser)
c.5352G>T (p.Arg1784Ser)
c.5145G>T (p.Arg1715Ser)
c.1848G>T (p.Arg616Ser)
c.5349G>T (p.Arg1783Ser)
c.1673G>T
c.1860G>T (p.Arg620Ser)
c.*5069G>T (n.*5069G>T)
c.216G>T (p.Arg72Ser)
c.759G>T (p.Arg253Ser)
c.-98-919G>T (n.-98-919G>T)
n.5422G>T
n.5463G>T
 ClinVar dbSNP
17g.43051109C=CA2260763744BRCA1c.5283G= (p.Arg1761=)
c.5286G= (p.Arg1762=)
c.5160G= (p.Arg1720=)
c.5280G= (p.Arg1760=)
c.5208G= (p.Arg1736=)
c.1974G= (p.Arg658=)
c.1836G= (p.Arg612=)
c.4398G= (p.Arg1466=)
c.5163G= (p.Arg1721=)
c.5352G= (p.Arg1784=)
c.5145G= (p.Arg1715=)
c.1848G= (p.Arg616=)
c.5349G= (p.Arg1783=)
c.1673G=
c.1860G= (p.Arg620=)
c.*5069G= (n.*5069G=)
c.216G= (p.Arg72=)
c.759G= (p.Arg253=)
c.-98-919G= (n.-98-919G=)
n.5422G=
n.5463G=
17g.43051109C>GCA10590973BRCA1c.5283G>C (p.Arg1761Ser)
c.5286G>C (p.Arg1762Ser)
c.5160G>C (p.Arg1720Ser)
c.5280G>C (p.Arg1760Ser)
c.5208G>C (p.Arg1736Ser)
c.1974G>C (p.Arg658Ser)
c.1836G>C (p.Arg612Ser)
c.4398G>C (p.Arg1466Ser)
c.5163G>C (p.Arg1721Ser)
c.5352G>C (p.Arg1784Ser)
c.5145G>C (p.Arg1715Ser)
c.1848G>C (p.Arg616Ser)
c.5349G>C (p.Arg1783Ser)
c.1673G>C
c.1860G>C (p.Arg620Ser)
c.*5069G>C (n.*5069G>C)
c.216G>C (p.Arg72Ser)
c.759G>C (p.Arg253Ser)
c.-98-919G>C (n.-98-919G>C)
n.5422G>C
n.5463G>C
 ClinVar dbSNP
17g.43051109C>TCA500143601BRCA1c.5283G>A (p.Arg1761=)
c.5286G>A (p.Arg1762=)
c.5160G>A (p.Arg1720=)
c.5280G>A (p.Arg1760=)
c.5208G>A (p.Arg1736=)
c.1974G>A (p.Arg658=)
c.1836G>A (p.Arg612=)
c.4398G>A (p.Arg1466=)
c.5163G>A (p.Arg1721=)
c.5352G>A (p.Arg1784=)
c.5145G>A (p.Arg1715=)
c.1848G>A (p.Arg616=)
c.5349G>A (p.Arg1783=)
c.1673G>A
c.1860G>A (p.Arg620=)
c.*5069G>A (n.*5069G>A)
c.216G>A (p.Arg72=)
c.759G>A (p.Arg253=)
c.-98-919G>A (n.-98-919G>A)
n.5422G>A
n.5463G>A
 ClinVar dbSNP
17g.43051109_43051110insTCA2733908472BRCA1c.5282_5283insA (p.Leu1763AlafsTer?)
c.5285_5286insA (p.Leu1764AlafsTer?)
c.5159_5160insA (p.Leu1722AlafsTer?)
c.5279_5280insA (p.Leu1762AlafsTer?)
c.5207_5208insA (p.Leu1738AlafsTer?)
c.1973_1974insA (p.Leu660AlafsTer?)
c.1835_1836insA (p.Leu614AlafsTer?)
c.4397_4398insA (p.Leu1468AlafsTer?)
c.5162_5163insA (p.Leu1723AlafsTer?)
c.5351_5352insA (p.Leu1786AlafsTer?)
c.5144_5145insA (p.Leu1717AlafsTer?)
c.1847_1848insA (p.Leu618AlafsTer?)
c.5348_5349insA (p.Leu1785AlafsTer?)
c.1672_1673insA
c.1859_1860insA (p.Leu622AlafsTer?)
c.*5068_*5069insA (n.*5068_*5069insA)
c.215_216insA (p.Leu74AlafsTer?)
c.758_759insA (p.Leu255AlafsTer?)
c.-98-920_-98-919insA (n.-98-920_-98-919insA)
n.5421_5422insA
n.5462_5463insA
 dbSNP
17g.43051110C>ACA003444BRCA1c.5282G>T (p.Arg1761Met)
c.5285G>T (p.Arg1762Met)
c.5159G>T (p.Arg1720Met)
c.5279G>T (p.Arg1760Met)
c.5207G>T (p.Arg1736Met)
c.1973G>T (p.Arg658Met)
c.1835G>T (p.Arg612Met)
c.4397G>T (p.Arg1466Met)
c.5162G>T (p.Arg1721Met)
c.5351G>T (p.Arg1784Met)
c.5144G>T (p.Arg1715Met)
c.1847G>T (p.Arg616Met)
c.5348G>T (p.Arg1783Met)
c.1672G>T
c.1859G>T (p.Arg620Met)
c.*5068G>T (n.*5068G>T)
c.215G>T (p.Arg72Met)
c.758G>T (p.Arg253Met)
c.-98-920G>T (n.-98-920G>T)
n.5421G>T
n.5462G>T
 ClinVar dbSNP gnomAD v4
17g.43051110C=CA2260763746BRCA1c.5282G= (p.Arg1761=)
c.5285G= (p.Arg1762=)
c.5159G= (p.Arg1720=)
c.5279G= (p.Arg1760=)
c.5207G= (p.Arg1736=)
c.1973G= (p.Arg658=)
c.1835G= (p.Arg612=)
c.4397G= (p.Arg1466=)
c.5162G= (p.Arg1721=)
c.5351G= (p.Arg1784=)
c.5144G= (p.Arg1715=)
c.1847G= (p.Arg616=)
c.5348G= (p.Arg1783=)
c.1672G=
c.1859G= (p.Arg620=)
c.*5068G= (n.*5068G=)
c.215G= (p.Arg72=)
c.758G= (p.Arg253=)
c.-98-920G= (n.-98-920G=)
n.5421G=
n.5462G=
17g.43051110C>GCA10590974BRCA1c.5282G>C (p.Arg1761Thr)
c.5285G>C (p.Arg1762Thr)
c.5159G>C (p.Arg1720Thr)
c.5279G>C (p.Arg1760Thr)
c.5207G>C (p.Arg1736Thr)
c.1973G>C (p.Arg658Thr)
c.1835G>C (p.Arg612Thr)
c.4397G>C (p.Arg1466Thr)
c.5162G>C (p.Arg1721Thr)
c.5351G>C (p.Arg1784Thr)
c.5144G>C (p.Arg1715Thr)
c.1847G>C (p.Arg616Thr)
c.5348G>C (p.Arg1783Thr)
c.1672G>C
c.1859G>C (p.Arg620Thr)
c.*5068G>C (n.*5068G>C)
c.215G>C (p.Arg72Thr)
c.758G>C (p.Arg253Thr)
c.-98-920G>C (n.-98-920G>C)
n.5421G>C
n.5462G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43051110C>TCA10590975BRCA1c.5282G>A (p.Arg1761Lys)
c.5285G>A (p.Arg1762Lys)
c.5159G>A (p.Arg1720Lys)
c.5279G>A (p.Arg1760Lys)
c.5207G>A (p.Arg1736Lys)
c.1973G>A (p.Arg658Lys)
c.1835G>A (p.Arg612Lys)
c.4397G>A (p.Arg1466Lys)
c.5162G>A (p.Arg1721Lys)
c.5351G>A (p.Arg1784Lys)
c.5144G>A (p.Arg1715Lys)
c.1847G>A (p.Arg616Lys)
c.5348G>A (p.Arg1783Lys)
c.1672G>A
c.1859G>A (p.Arg620Lys)
c.*5068G>A (n.*5068G>A)
c.215G>A (p.Arg72Lys)
c.758G>A (p.Arg253Lys)
c.-98-920G>A (n.-98-920G>A)
n.5421G>A
n.5462G>A
 ClinVar dbSNP
17g.43051110_43051111delinsCTCA2260763745BRCA1c.5281_5282delinsAG (p.Arg1761=)
c.5284_5285delinsAG (p.Arg1762=)
c.5158_5159delinsAG (p.Arg1720=)
c.5278_5279delinsAG (p.Arg1760=)
c.5206_5207delinsAG (p.Arg1736=)
c.1972_1973delinsAG (p.Arg658=)
c.1834_1835delinsAG (p.Arg612=)
c.4396_4397delinsAG (p.Arg1466=)
c.5161_5162delinsAG (p.Arg1721=)
c.5350_5351delinsAG (p.Arg1784=)
c.5143_5144delinsAG (p.Arg1715=)
c.1846_1847delinsAG (p.Arg616=)
c.5347_5348delinsAG (p.Arg1783=)
c.1671_1672delinsAG
c.1858_1859delinsAG (p.Arg620=)
c.*5067_*5068delinsAG (n.*5067_*5068delinsAG)
c.214_215delinsAG (p.Arg72=)
c.757_758delinsAG (p.Arg253=)
c.-98-921_-98-920delinsAG (n.-98-921_-98-920delinsAG)
n.5420_5421delinsAG
n.5461_5462delinsAG
17g.43051111delCA003443BRCA1c.5281del (p.Arg1761GlyfsTer3)
c.5284del (p.Arg1762GlyfsTer3)
c.5158del (p.Arg1720GlyfsTer3)
c.5278del (p.Arg1760GlyfsTer3)
c.5206del (p.Arg1736GlyfsTer3)
c.1972del (p.Arg658GlyfsTer3)
c.1834del (p.Arg612GlyfsTer3)
c.4396del (p.Arg1466GlyfsTer3)
c.5161del (p.Arg1721GlyfsTer3)
c.5350del (p.Arg1784GlyfsTer3)
c.5143del (p.Arg1715GlyfsTer3)
c.1846del (p.Arg616GlyfsTer3)
c.5347del (p.Arg1783GlyfsTer3)
c.1671del
c.1858del (p.Arg620GlyfsTer3)
c.*5067del (n.*5067del)
c.214del (p.Arg72GlyfsTer3)
c.757del (p.Arg253GlyfsTer3)
c.-98-921del (n.-98-921del)
n.5420del
n.5461del
 ClinVar dbSNP
17g.43051111T>ACA10590976BRCA1c.5281A>T (p.Arg1761Trp)
c.5284A>T (p.Arg1762Trp)
c.5158A>T (p.Arg1720Trp)
c.5278A>T (p.Arg1760Trp)
c.5206A>T (p.Arg1736Trp)
c.1972A>T (p.Arg658Trp)
c.1834A>T (p.Arg612Trp)
c.4396A>T (p.Arg1466Trp)
c.5161A>T (p.Arg1721Trp)
c.5350A>T (p.Arg1784Trp)
c.5143A>T (p.Arg1715Trp)
c.1846A>T (p.Arg616Trp)
c.5347A>T (p.Arg1783Trp)
c.1671A>T
c.1858A>T (p.Arg620Trp)
c.*5067A>T (n.*5067A>T)
c.214A>T (p.Arg72Trp)
c.757A>T (p.Arg253Trp)
c.-98-921A>T (n.-98-921A>T)
n.5420A>T
n.5461A>T
 ClinVar dbSNP
17g.43051111T>CCA10590977BRCA1c.5281A>G (p.Arg1761Gly)
c.5284A>G (p.Arg1762Gly)
c.5158A>G (p.Arg1720Gly)
c.5278A>G (p.Arg1760Gly)
c.5206A>G (p.Arg1736Gly)
c.1972A>G (p.Arg658Gly)
c.1834A>G (p.Arg612Gly)
c.4396A>G (p.Arg1466Gly)
c.5161A>G (p.Arg1721Gly)
c.5350A>G (p.Arg1784Gly)
c.5143A>G (p.Arg1715Gly)
c.1846A>G (p.Arg616Gly)
c.5347A>G (p.Arg1783Gly)
c.1671A>G
c.1858A>G (p.Arg620Gly)
c.*5067A>G (n.*5067A>G)
c.214A>G (p.Arg72Gly)
c.757A>G (p.Arg253Gly)
c.-98-921A>G (n.-98-921A>G)
n.5420A>G
n.5461A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43051111T>GCA500143602BRCA1c.5281A>C (p.Arg1761=)
c.5284A>C (p.Arg1762=)
c.5158A>C (p.Arg1720=)
c.5278A>C (p.Arg1760=)
c.5206A>C (p.Arg1736=)
c.1972A>C (p.Arg658=)
c.1834A>C (p.Arg612=)
c.4396A>C (p.Arg1466=)
c.5161A>C (p.Arg1721=)
c.5350A>C (p.Arg1784=)
c.5143A>C (p.Arg1715=)
c.1846A>C (p.Arg616=)
c.5347A>C (p.Arg1783=)
c.1671A>C
c.1858A>C (p.Arg620=)
c.*5067A>C (n.*5067A>C)
c.214A>C (p.Arg72=)
c.757A>C (p.Arg253=)
c.-98-921A>C (n.-98-921A>C)
n.5420A>C
n.5461A>C
 ClinVar dbSNP
17g.43051111T=CA2260763747BRCA1c.5281A= (p.Arg1761=)
c.5284A= (p.Arg1762=)
c.5158A= (p.Arg1720=)
c.5278A= (p.Arg1760=)
c.5206A= (p.Arg1736=)
c.1972A= (p.Arg658=)
c.1834A= (p.Arg612=)
c.4396A= (p.Arg1466=)
c.5161A= (p.Arg1721=)
c.5350A= (p.Arg1784=)
c.5143A= (p.Arg1715=)
c.1846A= (p.Arg616=)
c.5347A= (p.Arg1783=)
c.1671A=
c.1858A= (p.Arg620=)
c.*5067A= (n.*5067A=)
c.214A= (p.Arg72=)
c.757A= (p.Arg253=)
c.-98-921A= (n.-98-921A=)
n.5420A=
n.5461A=
17g.43051112G>ACA500143603BRCA1c.5280C>T (p.Phe1760=)
c.5283C>T (p.Phe1761=)
c.5157C>T (p.Phe1719=)
c.5277C>T (p.Phe1759=)
c.5205C>T (p.Phe1735=)
c.1971C>T (p.Phe657=)
c.1833C>T (p.Phe611=)
c.4395C>T (p.Phe1465=)
c.5160C>T (p.Phe1720=)
c.5349C>T (p.Phe1783=)
c.5142C>T (p.Phe1714=)
c.1845C>T (p.Phe615=)
c.5346C>T (p.Phe1782=)
c.1670C>T
c.1857C>T (p.Phe619=)
c.*5066C>T (n.*5066C>T)
c.213C>T (p.Phe71=)
c.756C>T (p.Phe252=)
c.-98-922C>T (n.-98-922C>T)
n.5419C>T
n.5460C>T
 ClinVar dbSNP
17g.43051112G>CCA10590978BRCA1c.5280C>G (p.Phe1760Leu)
c.5283C>G (p.Phe1761Leu)
c.5157C>G (p.Phe1719Leu)
c.5277C>G (p.Phe1759Leu)
c.5205C>G (p.Phe1735Leu)
c.1971C>G (p.Phe657Leu)
c.1833C>G (p.Phe611Leu)
c.4395C>G (p.Phe1465Leu)
c.5160C>G (p.Phe1720Leu)
c.5349C>G (p.Phe1783Leu)
c.5142C>G (p.Phe1714Leu)
c.1845C>G (p.Phe615Leu)
c.5346C>G (p.Phe1782Leu)
c.1670C>G
c.1857C>G (p.Phe619Leu)
c.*5066C>G (n.*5066C>G)
c.213C>G (p.Phe71Leu)
c.756C>G (p.Phe252Leu)
c.-98-922C>G (n.-98-922C>G)
n.5419C>G
n.5460C>G
 ClinVar dbSNP
17g.43051112G=CA2260763749BRCA1c.5280C= (p.Phe1760=)
c.5283C= (p.Phe1761=)
c.5157C= (p.Phe1719=)
c.5277C= (p.Phe1759=)
c.5205C= (p.Phe1735=)
c.1971C= (p.Phe657=)
c.1833C= (p.Phe611=)
c.4395C= (p.Phe1465=)
c.5160C= (p.Phe1720=)
c.5349C= (p.Phe1783=)
c.5142C= (p.Phe1714=)
c.1845C= (p.Phe615=)
c.5346C= (p.Phe1782=)
c.1670C=
c.1857C= (p.Phe619=)
c.*5066C= (n.*5066C=)
c.213C= (p.Phe71=)
c.756C= (p.Phe252=)
c.-98-922C= (n.-98-922C=)
n.5419C=
n.5460C=
17g.43051112G>TCA10590979BRCA1c.5280C>A (p.Phe1760Leu)
c.5283C>A (p.Phe1761Leu)
c.5157C>A (p.Phe1719Leu)
c.5277C>A (p.Phe1759Leu)
c.5205C>A (p.Phe1735Leu)
c.1971C>A (p.Phe657Leu)
c.1833C>A (p.Phe611Leu)
c.4395C>A (p.Phe1465Leu)
c.5160C>A (p.Phe1720Leu)
c.5349C>A (p.Phe1783Leu)
c.5142C>A (p.Phe1714Leu)
c.1845C>A (p.Phe615Leu)
c.5346C>A (p.Phe1782Leu)
c.1670C>A
c.1857C>A (p.Phe619Leu)
c.*5066C>A (n.*5066C>A)
c.213C>A (p.Phe71Leu)
c.756C>A (p.Phe252Leu)
c.-98-922C>A (n.-98-922C>A)
n.5419C>A
n.5460C>A
 ClinVar dbSNP
17g.43051112_43051113delinsGACA2260763748BRCA1c.5279_5280delinsTC (p.Phe1760=)
c.5282_5283delinsTC (p.Phe1761=)
c.5156_5157delinsTC (p.Phe1719=)
c.5276_5277delinsTC (p.Phe1759=)
c.5204_5205delinsTC (p.Phe1735=)
c.1970_1971delinsTC (p.Phe657=)
c.1832_1833delinsTC (p.Phe611=)
c.4394_4395delinsTC (p.Phe1465=)
c.5159_5160delinsTC (p.Phe1720=)
c.5348_5349delinsTC (p.Phe1783=)
c.5141_5142delinsTC (p.Phe1714=)
c.1844_1845delinsTC (p.Phe615=)
c.5345_5346delinsTC (p.Phe1782=)
c.1669_1670delinsTC
c.1856_1857delinsTC (p.Phe619=)
c.*5065_*5066delinsTC (n.*5065_*5066delinsTC)
c.212_213delinsTC (p.Phe71=)
c.755_756delinsTC (p.Phe252=)
c.-98-923_-98-922delinsTC (n.-98-923_-98-922delinsTC)
n.5418_5419delinsTC
n.5459_5460delinsTC
17g.43051113A=CA2260763750BRCA1c.5279T= (p.Phe1760=)
c.5282T= (p.Phe1761=)
c.5156T= (p.Phe1719=)
c.5276T= (p.Phe1759=)
c.5204T= (p.Phe1735=)
c.1970T= (p.Phe657=)
c.1832T= (p.Phe611=)
c.4394T= (p.Phe1465=)
c.5159T= (p.Phe1720=)
c.5348T= (p.Phe1783=)
c.5141T= (p.Phe1714=)
c.1844T= (p.Phe615=)
c.5345T= (p.Phe1782=)
c.1669T=
c.1856T= (p.Phe619=)
c.*5065T= (n.*5065T=)
c.212T= (p.Phe71=)
c.755T= (p.Phe252=)
c.-98-923T= (n.-98-923T=)
n.5418T=
n.5459T=
17g.43051113A>CCA10590980BRCA1c.5279T>G (p.Phe1760Cys)
c.5282T>G (p.Phe1761Cys)
c.5156T>G (p.Phe1719Cys)
c.5276T>G (p.Phe1759Cys)
c.5204T>G (p.Phe1735Cys)
c.1970T>G (p.Phe657Cys)
c.1832T>G (p.Phe611Cys)
c.4394T>G (p.Phe1465Cys)
c.5159T>G (p.Phe1720Cys)
c.5348T>G (p.Phe1783Cys)
c.5141T>G (p.Phe1714Cys)
c.1844T>G (p.Phe615Cys)
c.5345T>G (p.Phe1782Cys)
c.1669T>G
c.1856T>G (p.Phe619Cys)
c.*5065T>G (n.*5065T>G)
c.212T>G (p.Phe71Cys)
c.755T>G (p.Phe252Cys)
c.-98-923T>G (n.-98-923T>G)
n.5418T>G
n.5459T>G
 ClinVar dbSNP
17g.43051113A>GCA003442BRCA1c.5279T>C (p.Phe1760Ser)
c.5282T>C (p.Phe1761Ser)
c.5156T>C (p.Phe1719Ser)
c.5276T>C (p.Phe1759Ser)
c.5204T>C (p.Phe1735Ser)
c.1970T>C (p.Phe657Ser)
c.1832T>C (p.Phe611Ser)
c.4394T>C (p.Phe1465Ser)
c.5159T>C (p.Phe1720Ser)
c.5348T>C (p.Phe1783Ser)
c.5141T>C (p.Phe1714Ser)
c.1844T>C (p.Phe615Ser)
c.5345T>C (p.Phe1782Ser)
c.1669T>C
c.1856T>C (p.Phe619Ser)
c.*5065T>C (n.*5065T>C)
c.212T>C (p.Phe71Ser)
c.755T>C (p.Phe252Ser)
c.-98-923T>C (n.-98-923T>C)
n.5418T>C
n.5459T>C
 ClinVar dbSNP
17g.43051113A>TCA10590981BRCA1c.5279T>A (p.Phe1760Tyr)
c.5282T>A (p.Phe1761Tyr)
c.5156T>A (p.Phe1719Tyr)
c.5276T>A (p.Phe1759Tyr)
c.5204T>A (p.Phe1735Tyr)
c.1970T>A (p.Phe657Tyr)
c.1832T>A (p.Phe611Tyr)
c.4394T>A (p.Phe1465Tyr)
c.5159T>A (p.Phe1720Tyr)
c.5348T>A (p.Phe1783Tyr)
c.5141T>A (p.Phe1714Tyr)
c.1844T>A (p.Phe615Tyr)
c.5345T>A (p.Phe1782Tyr)
c.1669T>A
c.1856T>A (p.Phe619Tyr)
c.*5065T>A (n.*5065T>A)
c.212T>A (p.Phe71Tyr)
c.755T>A (p.Phe252Tyr)
c.-98-923T>A (n.-98-923T>A)
n.5418T>A
n.5459T>A
 ClinVar dbSNP
17g.43051114delCA10589602BRCA1c.5279del (p.Phe1760SerfsTer4)
c.5282del (p.Phe1761SerfsTer4)
c.5156del (p.Phe1719SerfsTer4)
c.5276del (p.Phe1759SerfsTer4)
c.5204del (p.Phe1735SerfsTer4)
c.1970del (p.Phe657SerfsTer4)
c.1832del (p.Phe611SerfsTer4)
c.4394del (p.Phe1465SerfsTer4)
c.5159del (p.Phe1720SerfsTer4)
c.5348del (p.Phe1783SerfsTer4)
c.5141del (p.Phe1714SerfsTer4)
c.1844del (p.Phe615SerfsTer4)
c.5345del (p.Phe1782SerfsTer4)
c.1669del
c.1856del (p.Phe619SerfsTer4)
c.*5065del (n.*5065del)
c.212del (p.Phe71SerfsTer4)
c.755del (p.Phe252SerfsTer4)
c.-98-923del (n.-98-923del)
n.5418del
n.5459del
 ClinVar dbSNP
17g.43051114A=CA2260763751BRCA1c.5278T= (p.Phe1760=)
c.5281T= (p.Phe1761=)
c.5155T= (p.Phe1719=)
c.5275T= (p.Phe1759=)
c.5203T= (p.Phe1735=)
c.1969T= (p.Phe657=)
c.1831T= (p.Phe611=)
c.4393T= (p.Phe1465=)
c.5158T= (p.Phe1720=)
c.5347T= (p.Phe1783=)
c.5140T= (p.Phe1714=)
c.1843T= (p.Phe615=)
c.5344T= (p.Phe1782=)
c.1668T=
c.1855T= (p.Phe619=)
c.*5064T= (n.*5064T=)
c.211T= (p.Phe71=)
c.754T= (p.Phe252=)
c.-98-924T= (n.-98-924T=)
n.5417T=
n.5458T=
17g.43051114A>CCA10590982BRCA1c.5278T>G (p.Phe1760Val)
c.5281T>G (p.Phe1761Val)
c.5155T>G (p.Phe1719Val)
c.5275T>G (p.Phe1759Val)
c.5203T>G (p.Phe1735Val)
c.1969T>G (p.Phe657Val)
c.1831T>G (p.Phe611Val)
c.4393T>G (p.Phe1465Val)
c.5158T>G (p.Phe1720Val)
c.5347T>G (p.Phe1783Val)
c.5140T>G (p.Phe1714Val)
c.1843T>G (p.Phe615Val)
c.5344T>G (p.Phe1782Val)
c.1668T>G
c.1855T>G (p.Phe619Val)
c.*5064T>G (n.*5064T>G)
c.211T>G (p.Phe71Val)
c.754T>G (p.Phe252Val)
c.-98-924T>G (n.-98-924T>G)
n.5417T>G
n.5458T>G
 ClinVar dbSNP
17g.43051114A>GCA10590983BRCA1c.5278T>C (p.Phe1760Leu)
c.5281T>C (p.Phe1761Leu)
c.5155T>C (p.Phe1719Leu)
c.5275T>C (p.Phe1759Leu)
c.5203T>C (p.Phe1735Leu)
c.1969T>C (p.Phe657Leu)
c.1831T>C (p.Phe611Leu)
c.4393T>C (p.Phe1465Leu)
c.5158T>C (p.Phe1720Leu)
c.5347T>C (p.Phe1783Leu)
c.5140T>C (p.Phe1714Leu)
c.1843T>C (p.Phe615Leu)
c.5344T>C (p.Phe1782Leu)
c.1668T>C
c.1855T>C (p.Phe619Leu)
c.*5064T>C (n.*5064T>C)
c.211T>C (p.Phe71Leu)
c.754T>C (p.Phe252Leu)
c.-98-924T>C (n.-98-924T>C)
n.5417T>C
n.5458T>C
 ClinVar dbSNP
17g.43051114A>TCA10590984BRCA1c.5278T>A (p.Phe1760Ile)
c.5281T>A (p.Phe1761Ile)
c.5155T>A (p.Phe1719Ile)
c.5275T>A (p.Phe1759Ile)
c.5203T>A (p.Phe1735Ile)
c.1969T>A (p.Phe657Ile)
c.1831T>A (p.Phe611Ile)
c.4393T>A (p.Phe1465Ile)
c.5158T>A (p.Phe1720Ile)
c.5347T>A (p.Phe1783Ile)
c.5140T>A (p.Phe1714Ile)
c.1843T>A (p.Phe615Ile)
c.5344T>A (p.Phe1782Ile)
c.1668T>A
c.1855T>A (p.Phe619Ile)
c.*5064T>A (n.*5064T>A)
c.211T>A (p.Phe71Ile)
c.754T>A (p.Phe252Ile)
c.-98-924T>A (n.-98-924T>A)
n.5417T>A
n.5458T>A
 ClinVar dbSNP
17g.43051115delCA2499224360BRCA1c.5277del (p.Phe1760SerfsTer4)
c.5280del (p.Phe1761SerfsTer4)
c.5154del (p.Phe1719SerfsTer4)
c.5274del (p.Phe1759SerfsTer4)
c.5202del (p.Phe1735SerfsTer4)
c.1968del (p.Phe657SerfsTer4)
c.1830del (p.Phe611SerfsTer4)
c.4392del (p.Phe1465SerfsTer4)
c.5157del (p.Phe1720SerfsTer4)
c.5346del (p.Phe1783SerfsTer4)
c.5139del (p.Phe1714SerfsTer4)
c.1842del (p.Phe615SerfsTer4)
c.5343del (p.Phe1782SerfsTer4)
c.1667del
c.1854del (p.Phe619SerfsTer4)
c.*5063del (n.*5063del)
c.210del (p.Phe71SerfsTer4)
c.753del (p.Phe252SerfsTer4)
c.-98-925del (n.-98-925del)
n.5416del
n.5457del
 ClinVar dbSNP
17g.43051115G>ACA054408BRCA1c.5277C>T (p.Ile1759=)
c.5280C>T (p.Ile1760=)
c.5154C>T (p.Ile1718=)
c.5274C>T (p.Ile1758=)
c.5202C>T (p.Ile1734=)
c.1968C>T (p.Ile656=)
c.1830C>T (p.Ile610=)
c.4392C>T (p.Ile1464=)
c.5157C>T (p.Ile1719=)
c.5346C>T (p.Ile1782=)
c.5139C>T (p.Ile1713=)
c.1842C>T (p.Ile614=)
c.5343C>T (p.Ile1781=)
c.1667C>T
c.1854C>T (p.Ile618=)
c.*5063C>T (n.*5063C>T)
c.210C>T (p.Ile70=)
c.753C>T (p.Ile251=)
c.-98-925C>T (n.-98-925C>T)
n.5416C>T
n.5457C>T
 ClinVar dbSNP ExAC gnomAD v2
17g.43051115G>CCA10590985BRCA1c.5277C>G (p.Ile1759Met)
c.5280C>G (p.Ile1760Met)
c.5154C>G (p.Ile1718Met)
c.5274C>G (p.Ile1758Met)
c.5202C>G (p.Ile1734Met)
c.1968C>G (p.Ile656Met)
c.1830C>G (p.Ile610Met)
c.4392C>G (p.Ile1464Met)
c.5157C>G (p.Ile1719Met)
c.5346C>G (p.Ile1782Met)
c.5139C>G (p.Ile1713Met)
c.1842C>G (p.Ile614Met)
c.5343C>G (p.Ile1781Met)
c.1667C>G
c.1854C>G (p.Ile618Met)
c.*5063C>G (n.*5063C>G)
c.210C>G (p.Ile70Met)
c.753C>G (p.Ile251Met)
c.-98-925C>G (n.-98-925C>G)
n.5416C>G
n.5457C>G
 ClinVar dbSNP
17g.43051115G=CA2260763752BRCA1c.5277C= (p.Ile1759=)
c.5280C= (p.Ile1760=)
c.5154C= (p.Ile1718=)
c.5274C= (p.Ile1758=)
c.5202C= (p.Ile1734=)
c.1968C= (p.Ile656=)
c.1830C= (p.Ile610=)
c.4392C= (p.Ile1464=)
c.5157C= (p.Ile1719=)
c.5346C= (p.Ile1782=)
c.5139C= (p.Ile1713=)
c.1842C= (p.Ile614=)
c.5343C= (p.Ile1781=)
c.1667C=
c.1854C= (p.Ile618=)
c.*5063C= (n.*5063C=)
c.210C= (p.Ile70=)
c.753C= (p.Ile251=)
c.-98-925C= (n.-98-925C=)
n.5416C=
n.5457C=
17g.43051115G>TCA003441BRCA1c.5277C>A (p.Ile1759=)
c.5280C>A (p.Ile1760=)
c.5154C>A (p.Ile1718=)
c.5274C>A (p.Ile1758=)
c.5202C>A (p.Ile1734=)
c.1968C>A (p.Ile656=)
c.1830C>A (p.Ile610=)
c.4392C>A (p.Ile1464=)
c.5157C>A (p.Ile1719=)
c.5346C>A (p.Ile1782=)
c.5139C>A (p.Ile1713=)
c.1842C>A (p.Ile614=)
c.5343C>A (p.Ile1781=)
c.1667C>A
c.1854C>A (p.Ile618=)
c.*5063C>A (n.*5063C>A)
c.210C>A (p.Ile70=)
c.753C>A (p.Ile251=)
c.-98-925C>A (n.-98-925C>A)
n.5416C>A
n.5457C>A
 ClinVar dbSNP gnomAD v4
17g.43051116A=CA2260763753BRCA1c.5276T= (p.Ile1759=)
c.5279T= (p.Ile1760=)
c.5153T= (p.Ile1718=)
c.5273T= (p.Ile1758=)
c.5201T= (p.Ile1734=)
c.1967T= (p.Ile656=)
c.1829T= (p.Ile610=)
c.4391T= (p.Ile1464=)
c.5156T= (p.Ile1719=)
c.5345T= (p.Ile1782=)
c.5138T= (p.Ile1713=)
c.1841T= (p.Ile614=)
c.5342T= (p.Ile1781=)
c.1666T=
c.1853T= (p.Ile618=)
c.*5062T= (n.*5062T=)
c.209T= (p.Ile70=)
c.752T= (p.Ile251=)
c.-98-926T= (n.-98-926T=)
n.5415T=
n.5456T=
17g.43051116A>CCA10590986BRCA1c.5276T>G (p.Ile1759Ser)
c.5279T>G (p.Ile1760Ser)
c.5153T>G (p.Ile1718Ser)
c.5273T>G (p.Ile1758Ser)
c.5201T>G (p.Ile1734Ser)
c.1967T>G (p.Ile656Ser)
c.1829T>G (p.Ile610Ser)
c.4391T>G (p.Ile1464Ser)
c.5156T>G (p.Ile1719Ser)
c.5345T>G (p.Ile1782Ser)
c.5138T>G (p.Ile1713Ser)
c.1841T>G (p.Ile614Ser)
c.5342T>G (p.Ile1781Ser)
c.1666T>G
c.1853T>G (p.Ile618Ser)
c.*5062T>G (n.*5062T>G)
c.209T>G (p.Ile70Ser)
c.752T>G (p.Ile251Ser)
c.-98-926T>G (n.-98-926T>G)
n.5415T>G
n.5456T>G
 ClinVar dbSNP
17g.43051116A>GCA10590987BRCA1c.5276T>C (p.Ile1759Thr)
c.5279T>C (p.Ile1760Thr)
c.5153T>C (p.Ile1718Thr)
c.5273T>C (p.Ile1758Thr)
c.5201T>C (p.Ile1734Thr)
c.1967T>C (p.Ile656Thr)
c.1829T>C (p.Ile610Thr)
c.4391T>C (p.Ile1464Thr)
c.5156T>C (p.Ile1719Thr)
c.5345T>C (p.Ile1782Thr)
c.5138T>C (p.Ile1713Thr)
c.1841T>C (p.Ile614Thr)
c.5342T>C (p.Ile1781Thr)
c.1666T>C
c.1853T>C (p.Ile618Thr)
c.*5062T>C (n.*5062T>C)
c.209T>C (p.Ile70Thr)
c.752T>C (p.Ile251Thr)
c.-98-926T>C (n.-98-926T>C)
n.5415T>C
n.5456T>C
 ClinVar dbSNP
17g.43051116A>TCA10590988BRCA1c.5276T>A (p.Ile1759Asn)
c.5279T>A (p.Ile1760Asn)
c.5153T>A (p.Ile1718Asn)
c.5273T>A (p.Ile1758Asn)
c.5201T>A (p.Ile1734Asn)
c.1967T>A (p.Ile656Asn)
c.1829T>A (p.Ile610Asn)
c.4391T>A (p.Ile1464Asn)
c.5156T>A (p.Ile1719Asn)
c.5345T>A (p.Ile1782Asn)
c.5138T>A (p.Ile1713Asn)
c.1841T>A (p.Ile614Asn)
c.5342T>A (p.Ile1781Asn)
c.1666T>A
c.1853T>A (p.Ile618Asn)
c.*5062T>A (n.*5062T>A)
c.209T>A (p.Ile70Asn)
c.752T>A (p.Ile251Asn)
c.-98-926T>A (n.-98-926T>A)
n.5415T>A
n.5456T>A
 ClinVar dbSNP
17g.43051117T>ACA10590989BRCA1c.5275A>T (p.Ile1759Phe)
c.5278A>T (p.Ile1760Phe)
c.5152A>T (p.Ile1718Phe)
c.5272A>T (p.Ile1758Phe)
c.5200A>T (p.Ile1734Phe)
c.1966A>T (p.Ile656Phe)
c.1828A>T (p.Ile610Phe)
c.4390A>T (p.Ile1464Phe)
c.5155A>T (p.Ile1719Phe)
c.5344A>T (p.Ile1782Phe)
c.5137A>T (p.Ile1713Phe)
c.1840A>T (p.Ile614Phe)
c.5341A>T (p.Ile1781Phe)
c.1665A>T
c.1852A>T (p.Ile618Phe)
c.*5061A>T (n.*5061A>T)
c.208A>T (p.Ile70Phe)
c.751A>T (p.Ile251Phe)
c.-98-927A>T (n.-98-927A>T)
n.5414A>T
n.5455A>T
 ClinVar dbSNP
17g.43051117T>CCA10590990BRCA1c.5275A>G (p.Ile1759Val)
c.5278A>G (p.Ile1760Val)
c.5152A>G (p.Ile1718Val)
c.5272A>G (p.Ile1758Val)
c.5200A>G (p.Ile1734Val)
c.1966A>G (p.Ile656Val)
c.1828A>G (p.Ile610Val)
c.4390A>G (p.Ile1464Val)
c.5155A>G (p.Ile1719Val)
c.5344A>G (p.Ile1782Val)
c.5137A>G (p.Ile1713Val)
c.1840A>G (p.Ile614Val)
c.5341A>G (p.Ile1781Val)
c.1665A>G
c.1852A>G (p.Ile618Val)
c.*5061A>G (n.*5061A>G)
c.208A>G (p.Ile70Val)
c.751A>G (p.Ile251Val)
c.-98-927A>G (n.-98-927A>G)
n.5414A>G
n.5455A>G
 ClinVar dbSNP
17g.43051117T>GCA10590991BRCA1c.5275A>C (p.Ile1759Leu)
c.5278A>C (p.Ile1760Leu)
c.5152A>C (p.Ile1718Leu)
c.5272A>C (p.Ile1758Leu)
c.5200A>C (p.Ile1734Leu)
c.1966A>C (p.Ile656Leu)
c.1828A>C (p.Ile610Leu)
c.4390A>C (p.Ile1464Leu)
c.5155A>C (p.Ile1719Leu)
c.5344A>C (p.Ile1782Leu)
c.5137A>C (p.Ile1713Leu)
c.1840A>C (p.Ile614Leu)
c.5341A>C (p.Ile1781Leu)
c.1665A>C
c.1852A>C (p.Ile618Leu)
c.*5061A>C (n.*5061A>C)
c.208A>C (p.Ile70Leu)
c.751A>C (p.Ile251Leu)
c.-98-927A>C (n.-98-927A>C)
n.5414A>C
n.5455A>C
 ClinVar dbSNP
17g.43051117T=CA2260763754BRCA1c.5275A= (p.Ile1759=)
c.5278A= (p.Ile1760=)
c.5152A= (p.Ile1718=)
c.5272A= (p.Ile1758=)
c.5200A= (p.Ile1734=)
c.1966A= (p.Ile656=)
c.1828A= (p.Ile610=)
c.4390A= (p.Ile1464=)
c.5155A= (p.Ile1719=)
c.5344A= (p.Ile1782=)
c.5137A= (p.Ile1713=)
c.1840A= (p.Ile614=)
c.5341A= (p.Ile1781=)
c.1665A=
c.1852A= (p.Ile618=)
c.*5061A= (n.*5061A=)
c.208A= (p.Ile70=)
c.751A= (p.Ile251=)
c.-98-927A= (n.-98-927A=)
n.5414A=
n.5455A=
17g.43051118C>ACA003436BRCA1c.5275-1G>T (n.5275-1G>T)
c.5278-1G>T (n.5278-1G>T)
c.5152-1G>T (n.5152-1G>T)
c.5272-1G>T (n.5272-1G>T)
c.5200-1G>T (n.5200-1G>T)
c.1966-1G>T (n.1966-1G>T)
c.1828-1G>T (n.1828-1G>T)
c.4390-1G>T (n.4390-1G>T)
c.5155-1G>T (n.5155-1G>T)
c.5344-1G>T (n.5344-1G>T)
c.5137-1G>T (n.5137-1G>T)
c.1840-1G>T (n.1840-1G>T)
c.5341-1G>T (n.5341-1G>T)
c.1665-1G>T
c.1852-1G>T (n.1852-1G>T)
c.*5061-1G>T (n.*5061-1G>T)
c.208-1G>T (n.208-1G>T)
c.751-1G>T (n.751-1G>T)
c.-98-928G>T (n.-98-928G>T)
n.5414-1G>T
n.5455-1G>T
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
17g.43051118C=CA2260763757BRCA1c.5275-1G= (n.5275-1G=)
c.5278-1G= (n.5278-1G=)
c.5152-1G= (n.5152-1G=)
c.5272-1G= (n.5272-1G=)
c.5200-1G= (n.5200-1G=)
c.1966-1G= (n.1966-1G=)
c.1828-1G= (n.1828-1G=)
c.4390-1G= (n.4390-1G=)
c.5155-1G= (n.5155-1G=)
c.5344-1G= (n.5344-1G=)
c.5137-1G= (n.5137-1G=)
c.1840-1G= (n.1840-1G=)
c.5341-1G= (n.5341-1G=)
c.1665-1G=
c.1852-1G= (n.1852-1G=)
c.*5061-1G= (n.*5061-1G=)
c.208-1G= (n.208-1G=)
c.751-1G= (n.751-1G=)
c.-98-928G= (n.-98-928G=)
n.5414-1G=
n.5455-1G=
17g.43051118C>GCA003434BRCA1c.5275-1G>C (n.5275-1G>C)
c.5278-1G>C (n.5278-1G>C)
c.5152-1G>C (n.5152-1G>C)
c.5272-1G>C (n.5272-1G>C)
c.5200-1G>C (n.5200-1G>C)
c.1966-1G>C (n.1966-1G>C)
c.1828-1G>C (n.1828-1G>C)
c.4390-1G>C (n.4390-1G>C)
c.5155-1G>C (n.5155-1G>C)
c.5344-1G>C (n.5344-1G>C)
c.5137-1G>C (n.5137-1G>C)
c.1840-1G>C (n.1840-1G>C)
c.5341-1G>C (n.5341-1G>C)
c.1665-1G>C
c.1852-1G>C (n.1852-1G>C)
c.*5061-1G>C (n.*5061-1G>C)
c.208-1G>C (n.208-1G>C)
c.751-1G>C (n.751-1G>C)
c.-98-928G>C (n.-98-928G>C)
n.5414-1G>C
n.5455-1G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43051118C>TCA003432BRCA1c.5275-1G>A (n.5275-1G>A)
c.5278-1G>A (n.5278-1G>A)
c.5152-1G>A (n.5152-1G>A)
c.5272-1G>A (n.5272-1G>A)
c.5200-1G>A (n.5200-1G>A)
c.1966-1G>A (n.1966-1G>A)
c.1828-1G>A (n.1828-1G>A)
c.4390-1G>A (n.4390-1G>A)
c.5155-1G>A (n.5155-1G>A)
c.5344-1G>A (n.5344-1G>A)
c.5137-1G>A (n.5137-1G>A)
c.1840-1G>A (n.1840-1G>A)
c.5341-1G>A (n.5341-1G>A)
c.1665-1G>A
c.1852-1G>A (n.1852-1G>A)
c.*5061-1G>A (n.*5061-1G>A)
c.208-1G>A (n.208-1G>A)
c.751-1G>A (n.751-1G>A)
c.-98-928G>A (n.-98-928G>A)
n.5414-1G>A
n.5455-1G>A
 ClinVar dbSNP gnomAD v4
17g.43051118_43051119delinsCTCA2260763755BRCA1c.5275-2_5275-1delinsAG (n.5275-2_5275-1delinsAG)
c.5278-2_5278-1delinsAG (n.5278-2_5278-1delinsAG)
c.5152-2_5152-1delinsAG (n.5152-2_5152-1delinsAG)
c.5272-2_5272-1delinsAG (n.5272-2_5272-1delinsAG)
c.5200-2_5200-1delinsAG (n.5200-2_5200-1delinsAG)
c.1966-2_1966-1delinsAG (n.1966-2_1966-1delinsAG)
c.1828-2_1828-1delinsAG (n.1828-2_1828-1delinsAG)
c.4390-2_4390-1delinsAG (n.4390-2_4390-1delinsAG)
c.5155-2_5155-1delinsAG (n.5155-2_5155-1delinsAG)
c.5344-2_5344-1delinsAG (n.5344-2_5344-1delinsAG)
c.5137-2_5137-1delinsAG (n.5137-2_5137-1delinsAG)
c.1840-2_1840-1delinsAG (n.1840-2_1840-1delinsAG)
c.5341-2_5341-1delinsAG (n.5341-2_5341-1delinsAG)
c.1665-2_1665-1delinsAG
c.1852-2_1852-1delinsAG (n.1852-2_1852-1delinsAG)
c.*5061-2_*5061-1delinsAG (n.*5061-2_*5061-1delinsAG)
c.208-2_208-1delinsAG (n.208-2_208-1delinsAG)
c.751-2_751-1delinsAG (n.751-2_751-1delinsAG)
c.-98-929_-98-928delinsAG (n.-98-929_-98-928delinsAG)
n.5414-2_5414-1delinsAG
n.5455-2_5455-1delinsAG
17g.43051118_43051121delinsCTGGCA2260763756BRCA1c.5275-4_5275-1delinsCCAG (n.5275-4_5275-1delinsCCAG)
c.5278-4_5278-1delinsCCAG (n.5278-4_5278-1delinsCCAG)
c.5152-4_5152-1delinsCCAG (n.5152-4_5152-1delinsCCAG)
c.5272-4_5272-1delinsCCAG (n.5272-4_5272-1delinsCCAG)
c.5200-4_5200-1delinsCCAG (n.5200-4_5200-1delinsCCAG)
c.1966-4_1966-1delinsCCAG (n.1966-4_1966-1delinsCCAG)
c.1828-4_1828-1delinsCCAG (n.1828-4_1828-1delinsCCAG)
c.4390-4_4390-1delinsCCAG (n.4390-4_4390-1delinsCCAG)
c.5155-4_5155-1delinsCCAG (n.5155-4_5155-1delinsCCAG)
c.5344-4_5344-1delinsCCAG (n.5344-4_5344-1delinsCCAG)
c.5137-4_5137-1delinsCCAG (n.5137-4_5137-1delinsCCAG)
c.1840-4_1840-1delinsCCAG (n.1840-4_1840-1delinsCCAG)
c.5341-4_5341-1delinsCCAG (n.5341-4_5341-1delinsCCAG)
c.1665-4_1665-1delinsCCAG
c.1852-4_1852-1delinsCCAG (n.1852-4_1852-1delinsCCAG)
c.*5061-4_*5061-1delinsCCAG (n.*5061-4_*5061-1delinsCCAG)
c.208-4_208-1delinsCCAG (n.208-4_208-1delinsCCAG)
c.751-4_751-1delinsCCAG (n.751-4_751-1delinsCCAG)
c.-98-931_-98-928delinsCCAG (n.-98-931_-98-928delinsCCAG)
n.5414-4_5414-1delinsCCAG
n.5455-4_5455-1delinsCCAG
17g.43051119delCA10581596BRCA1c.5275-2del (n.5275-2del)
c.5278-2del (n.5278-2del)
c.5152-2del (n.5152-2del)
c.5272-2del (n.5272-2del)
c.5200-2del (n.5200-2del)
c.1966-2del (n.1966-2del)
c.1828-2del (n.1828-2del)
c.4390-2del (n.4390-2del)
c.5155-2del (n.5155-2del)
c.5344-2del (n.5344-2del)
c.5137-2del (n.5137-2del)
c.1840-2del (n.1840-2del)
c.5341-2del (n.5341-2del)
c.1665-2del
c.1852-2del (n.1852-2del)
c.*5061-2del (n.*5061-2del)
c.208-2del (n.208-2del)
c.751-2del (n.751-2del)
c.-98-929del (n.-98-929del)
n.5414-2del
n.5455-2del
 ClinVar dbSNP
17g.43051119T>ACA003437BRCA1c.5275-2A>T (n.5275-2A>T)
c.5278-2A>T (n.5278-2A>T)
c.5152-2A>T (n.5152-2A>T)
c.5272-2A>T (n.5272-2A>T)
c.5200-2A>T (n.5200-2A>T)
c.1966-2A>T (n.1966-2A>T)
c.1828-2A>T (n.1828-2A>T)
c.4390-2A>T (n.4390-2A>T)
c.5155-2A>T (n.5155-2A>T)
c.5344-2A>T (n.5344-2A>T)
c.5137-2A>T (n.5137-2A>T)
c.1840-2A>T (n.1840-2A>T)
c.5341-2A>T (n.5341-2A>T)
c.1665-2A>T
c.1852-2A>T (n.1852-2A>T)
c.*5061-2A>T (n.*5061-2A>T)
c.208-2A>T (n.208-2A>T)
c.751-2A>T (n.751-2A>T)
c.-98-929A>T (n.-98-929A>T)
n.5414-2A>T
n.5455-2A>T
 ClinVar dbSNP
17g.43051119T>CCA10590992BRCA1c.5275-2A>G (n.5275-2A>G)
c.5278-2A>G (n.5278-2A>G)
c.5152-2A>G (n.5152-2A>G)
c.5272-2A>G (n.5272-2A>G)
c.5200-2A>G (n.5200-2A>G)
c.1966-2A>G (n.1966-2A>G)
c.1828-2A>G (n.1828-2A>G)
c.4390-2A>G (n.4390-2A>G)
c.5155-2A>G (n.5155-2A>G)
c.5344-2A>G (n.5344-2A>G)
c.5137-2A>G (n.5137-2A>G)
c.1840-2A>G (n.1840-2A>G)
c.5341-2A>G (n.5341-2A>G)
c.1665-2A>G
c.1852-2A>G (n.1852-2A>G)
c.*5061-2A>G (n.*5061-2A>G)
c.208-2A>G (n.208-2A>G)
c.751-2A>G (n.751-2A>G)
c.-98-929A>G (n.-98-929A>G)
n.5414-2A>G
n.5455-2A>G
 ClinVar dbSNP
17g.43051119T>GCA10590993BRCA1c.5275-2A>C (n.5275-2A>C)
c.5278-2A>C (n.5278-2A>C)
c.5152-2A>C (n.5152-2A>C)
c.5272-2A>C (n.5272-2A>C)
c.5200-2A>C (n.5200-2A>C)
c.1966-2A>C (n.1966-2A>C)
c.1828-2A>C (n.1828-2A>C)
c.4390-2A>C (n.4390-2A>C)
c.5155-2A>C (n.5155-2A>C)
c.5344-2A>C (n.5344-2A>C)
c.5137-2A>C (n.5137-2A>C)
c.1840-2A>C (n.1840-2A>C)
c.5341-2A>C (n.5341-2A>C)
c.1665-2A>C
c.1852-2A>C (n.1852-2A>C)
c.*5061-2A>C (n.*5061-2A>C)
c.208-2A>C (n.208-2A>C)
c.751-2A>C (n.751-2A>C)
c.-98-929A>C (n.-98-929A>C)
n.5414-2A>C
n.5455-2A>C
 ClinVar dbSNP
17g.43051119T=CA2260763758BRCA1c.5275-2A= (n.5275-2A=)
c.5278-2A= (n.5278-2A=)
c.5152-2A= (n.5152-2A=)
c.5272-2A= (n.5272-2A=)
c.5200-2A= (n.5200-2A=)
c.1966-2A= (n.1966-2A=)
c.1828-2A= (n.1828-2A=)
c.4390-2A= (n.4390-2A=)
c.5155-2A= (n.5155-2A=)
c.5344-2A= (n.5344-2A=)
c.5137-2A= (n.5137-2A=)
c.1840-2A= (n.1840-2A=)
c.5341-2A= (n.5341-2A=)
c.1665-2A=
c.1852-2A= (n.1852-2A=)
c.*5061-2A= (n.*5061-2A=)
c.208-2A= (n.208-2A=)
c.751-2A= (n.751-2A=)
c.-98-929A= (n.-98-929A=)
n.5414-2A=
n.5455-2A=
17g.43051119_43051121delCA268378BRCA1c.5275-4_5275-2del (n.5275-4_5275-2del)
c.5278-4_5278-2del (n.5278-4_5278-2del)
c.5152-4_5152-2del (n.5152-4_5152-2del)
c.5272-4_5272-2del (n.5272-4_5272-2del)
c.5200-4_5200-2del (n.5200-4_5200-2del)
c.1966-4_1966-2del (n.1966-4_1966-2del)
c.1828-4_1828-2del (n.1828-4_1828-2del)
c.4390-4_4390-2del (n.4390-4_4390-2del)
c.5155-4_5155-2del (n.5155-4_5155-2del)
c.5344-4_5344-2del (n.5344-4_5344-2del)
c.5137-4_5137-2del (n.5137-4_5137-2del)
c.1840-4_1840-2del (n.1840-4_1840-2del)
c.5341-4_5341-2del (n.5341-4_5341-2del)
c.1665-4_1665-2del
c.1852-4_1852-2del (n.1852-4_1852-2del)
c.*5061-4_*5061-2del (n.*5061-4_*5061-2del)
c.208-4_208-2del (n.208-4_208-2del)
c.751-4_751-2del (n.751-4_751-2del)
c.-98-931_-98-929del (n.-98-931_-98-929del)
n.5414-4_5414-2del
n.5455-4_5455-2del
 ClinVar dbSNP
17g.43051120G>ACA003438BRCA1c.5275-3C>T (n.5275-3C>T)
c.5278-3C>T (n.5278-3C>T)
c.5152-3C>T (n.5152-3C>T)
c.5272-3C>T (n.5272-3C>T)
c.5200-3C>T (n.5200-3C>T)
c.1966-3C>T (n.1966-3C>T)
c.1828-3C>T (n.1828-3C>T)
c.4390-3C>T (n.4390-3C>T)
c.5155-3C>T (n.5155-3C>T)
c.5344-3C>T (n.5344-3C>T)
c.5137-3C>T (n.5137-3C>T)
c.1840-3C>T (n.1840-3C>T)
c.5341-3C>T (n.5341-3C>T)
c.1665-3C>T
c.1852-3C>T (n.1852-3C>T)
c.*5061-3C>T (n.*5061-3C>T)
c.208-3C>T (n.208-3C>T)
c.751-3C>T (n.751-3C>T)
c.-98-930C>T (n.-98-930C>T)
n.5414-3C>T
n.5455-3C>T
 ClinVar dbSNP
17g.43051120G>CCA916081047BRCA1c.5275-3C>G (n.5275-3C>G)
c.5278-3C>G (n.5278-3C>G)
c.5152-3C>G (n.5152-3C>G)
c.5272-3C>G (n.5272-3C>G)
c.5200-3C>G (n.5200-3C>G)
c.1966-3C>G (n.1966-3C>G)
c.1828-3C>G (n.1828-3C>G)
c.4390-3C>G (n.4390-3C>G)
c.5155-3C>G (n.5155-3C>G)
c.5344-3C>G (n.5344-3C>G)
c.5137-3C>G (n.5137-3C>G)
c.1840-3C>G (n.1840-3C>G)
c.5341-3C>G (n.5341-3C>G)
c.1665-3C>G
c.1852-3C>G (n.1852-3C>G)
c.*5061-3C>G (n.*5061-3C>G)
c.208-3C>G (n.208-3C>G)
c.751-3C>G (n.751-3C>G)
c.-98-930C>G (n.-98-930C>G)
n.5414-3C>G
n.5455-3C>G
 ClinVar dbSNP
17g.43051120G=CA2260763760BRCA1c.5275-3C= (n.5275-3C=)
c.5278-3C= (n.5278-3C=)
c.5152-3C= (n.5152-3C=)
c.5272-3C= (n.5272-3C=)
c.5200-3C= (n.5200-3C=)
c.1966-3C= (n.1966-3C=)
c.1828-3C= (n.1828-3C=)
c.4390-3C= (n.4390-3C=)
c.5155-3C= (n.5155-3C=)
c.5344-3C= (n.5344-3C=)
c.5137-3C= (n.5137-3C=)
c.1840-3C= (n.1840-3C=)
c.5341-3C= (n.5341-3C=)
c.1665-3C=
c.1852-3C= (n.1852-3C=)
c.*5061-3C= (n.*5061-3C=)
c.208-3C= (n.208-3C=)
c.751-3C= (n.751-3C=)
c.-98-930C= (n.-98-930C=)
n.5414-3C=
n.5455-3C=
17g.43051120G>TCA916081048BRCA1c.5275-3C>A (n.5275-3C>A)
c.5278-3C>A (n.5278-3C>A)
c.5152-3C>A (n.5152-3C>A)
c.5272-3C>A (n.5272-3C>A)
c.5200-3C>A (n.5200-3C>A)
c.1966-3C>A (n.1966-3C>A)
c.1828-3C>A (n.1828-3C>A)
c.4390-3C>A (n.4390-3C>A)
c.5155-3C>A (n.5155-3C>A)
c.5344-3C>A (n.5344-3C>A)
c.5137-3C>A (n.5137-3C>A)
c.1840-3C>A (n.1840-3C>A)
c.5341-3C>A (n.5341-3C>A)
c.1665-3C>A
c.1852-3C>A (n.1852-3C>A)
c.*5061-3C>A (n.*5061-3C>A)
c.208-3C>A (n.208-3C>A)
c.751-3C>A (n.751-3C>A)
c.-98-930C>A (n.-98-930C>A)
n.5414-3C>A
n.5455-3C>A
 ClinVar dbSNP
17g.43051121delCA2576282042BRCA1c.5275-3del (n.5275-3del)
c.5278-3del (n.5278-3del)
c.5152-3del (n.5152-3del)
c.5272-3del (n.5272-3del)
c.5200-3del (n.5200-3del)
c.1966-3del (n.1966-3del)
c.1828-3del (n.1828-3del)
c.4390-3del (n.4390-3del)
c.5155-3del (n.5155-3del)
c.5344-3del (n.5344-3del)
c.5137-3del (n.5137-3del)
c.1840-3del (n.1840-3del)
c.5341-3del (n.5341-3del)
c.1665-3del
c.1852-3del (n.1852-3del)
c.*5061-3del (n.*5061-3del)
c.208-3del (n.208-3del)
c.751-3del (n.751-3del)
c.-98-930del (n.-98-930del)
n.5414-3del
n.5455-3del
17g.43051120_43051123delinsGGAACA2260763759BRCA1c.5275-6_5275-3delinsTTCC (n.5275-6_5275-3delinsTTCC)
c.5278-6_5278-3delinsTTCC (n.5278-6_5278-3delinsTTCC)
c.5152-6_5152-3delinsTTCC (n.5152-6_5152-3delinsTTCC)
c.5272-6_5272-3delinsTTCC (n.5272-6_5272-3delinsTTCC)
c.5200-6_5200-3delinsTTCC (n.5200-6_5200-3delinsTTCC)
c.1966-6_1966-3delinsTTCC (n.1966-6_1966-3delinsTTCC)
c.1828-6_1828-3delinsTTCC (n.1828-6_1828-3delinsTTCC)
c.4390-6_4390-3delinsTTCC (n.4390-6_4390-3delinsTTCC)
c.5155-6_5155-3delinsTTCC (n.5155-6_5155-3delinsTTCC)
c.5344-6_5344-3delinsTTCC (n.5344-6_5344-3delinsTTCC)
c.5137-6_5137-3delinsTTCC (n.5137-6_5137-3delinsTTCC)
c.1840-6_1840-3delinsTTCC (n.1840-6_1840-3delinsTTCC)
c.5341-6_5341-3delinsTTCC (n.5341-6_5341-3delinsTTCC)
c.1665-6_1665-3delinsTTCC
c.1852-6_1852-3delinsTTCC (n.1852-6_1852-3delinsTTCC)
c.*5061-6_*5061-3delinsTTCC (n.*5061-6_*5061-3delinsTTCC)
c.208-6_208-3delinsTTCC (n.208-6_208-3delinsTTCC)
c.751-6_751-3delinsTTCC (n.751-6_751-3delinsTTCC)
c.-98-933_-98-930delinsTTCC (n.-98-933_-98-930delinsTTCC)
n.5414-6_5414-3delinsTTCC
n.5455-6_5455-3delinsTTCC
17g.43051121G>ACA916081049BRCA1c.5275-4C>T (n.5275-4C>T)
c.5278-4C>T (n.5278-4C>T)
c.5152-4C>T (n.5152-4C>T)
c.5272-4C>T (n.5272-4C>T)
c.5200-4C>T (n.5200-4C>T)
c.1966-4C>T (n.1966-4C>T)
c.1828-4C>T (n.1828-4C>T)
c.4390-4C>T (n.4390-4C>T)
c.5155-4C>T (n.5155-4C>T)
c.5344-4C>T (n.5344-4C>T)
c.5137-4C>T (n.5137-4C>T)
c.1840-4C>T (n.1840-4C>T)
c.5341-4C>T (n.5341-4C>T)
c.1665-4C>T
c.1852-4C>T (n.1852-4C>T)
c.*5061-4C>T (n.*5061-4C>T)
c.208-4C>T (n.208-4C>T)
c.751-4C>T (n.751-4C>T)
c.-98-931C>T (n.-98-931C>T)
n.5414-4C>T
n.5455-4C>T
 ClinVar dbSNP
17g.43051121G>CCA916081051BRCA1c.5275-4C>G (n.5275-4C>G)
c.5278-4C>G (n.5278-4C>G)
c.5152-4C>G (n.5152-4C>G)
c.5272-4C>G (n.5272-4C>G)
c.5200-4C>G (n.5200-4C>G)
c.1966-4C>G (n.1966-4C>G)
c.1828-4C>G (n.1828-4C>G)
c.4390-4C>G (n.4390-4C>G)
c.5155-4C>G (n.5155-4C>G)
c.5344-4C>G (n.5344-4C>G)
c.5137-4C>G (n.5137-4C>G)
c.1840-4C>G (n.1840-4C>G)
c.5341-4C>G (n.5341-4C>G)
c.1665-4C>G
c.1852-4C>G (n.1852-4C>G)
c.*5061-4C>G (n.*5061-4C>G)
c.208-4C>G (n.208-4C>G)
c.751-4C>G (n.751-4C>G)
c.-98-931C>G (n.-98-931C>G)
n.5414-4C>G
n.5455-4C>G
 ClinVar dbSNP
17g.43051121G=CA2260763761BRCA1c.5275-4C= (n.5275-4C=)
c.5278-4C= (n.5278-4C=)
c.5152-4C= (n.5152-4C=)
c.5272-4C= (n.5272-4C=)
c.5200-4C= (n.5200-4C=)
c.1966-4C= (n.1966-4C=)
c.1828-4C= (n.1828-4C=)
c.4390-4C= (n.4390-4C=)
c.5155-4C= (n.5155-4C=)
c.5344-4C= (n.5344-4C=)
c.5137-4C= (n.5137-4C=)
c.1840-4C= (n.1840-4C=)
c.5341-4C= (n.5341-4C=)
c.1665-4C=
c.1852-4C= (n.1852-4C=)
c.*5061-4C= (n.*5061-4C=)
c.208-4C= (n.208-4C=)
c.751-4C= (n.751-4C=)
c.-98-931C= (n.-98-931C=)
n.5414-4C=
n.5455-4C=
17g.43051121G>TCA916081050BRCA1c.5275-4C>A (n.5275-4C>A)
c.5278-4C>A (n.5278-4C>A)
c.5152-4C>A (n.5152-4C>A)
c.5272-4C>A (n.5272-4C>A)
c.5200-4C>A (n.5200-4C>A)
c.1966-4C>A (n.1966-4C>A)
c.1828-4C>A (n.1828-4C>A)
c.4390-4C>A (n.4390-4C>A)
c.5155-4C>A (n.5155-4C>A)
c.5344-4C>A (n.5344-4C>A)
c.5137-4C>A (n.5137-4C>A)
c.1840-4C>A (n.1840-4C>A)
c.5341-4C>A (n.5341-4C>A)
c.1665-4C>A
c.1852-4C>A (n.1852-4C>A)
c.*5061-4C>A (n.*5061-4C>A)
c.208-4C>A (n.208-4C>A)
c.751-4C>A (n.751-4C>A)
c.-98-931C>A (n.-98-931C>A)
n.5414-4C>A
n.5455-4C>A
 ClinVar dbSNP
17g.43051126_43051128delCA003439BRCA1c.5275-6_5275-4del (n.5275-6_5275-4del)
c.5278-6_5278-4del (n.5278-6_5278-4del)
c.5152-6_5152-4del (n.5152-6_5152-4del)
c.5272-6_5272-4del (n.5272-6_5272-4del)
c.5200-6_5200-4del (n.5200-6_5200-4del)
c.1966-6_1966-4del (n.1966-6_1966-4del)
c.1828-6_1828-4del (n.1828-6_1828-4del)
c.4390-6_4390-4del (n.4390-6_4390-4del)
c.5155-6_5155-4del (n.5155-6_5155-4del)
c.5344-6_5344-4del (n.5344-6_5344-4del)
c.5137-6_5137-4del (n.5137-6_5137-4del)
c.1840-6_1840-4del (n.1840-6_1840-4del)
c.5341-6_5341-4del (n.5341-6_5341-4del)
c.1665-6_1665-4del
c.1852-6_1852-4del (n.1852-6_1852-4del)
c.*5061-6_*5061-4del (n.*5061-6_*5061-4del)
c.208-6_208-4del (n.208-6_208-4del)
c.751-6_751-4del (n.751-6_751-4del)
c.-98-933_-98-931del (n.-98-933_-98-931del)
n.5414-6_5414-4del
n.5455-6_5455-4del
 ClinVar dbSNP
17g.43051122A=CA2260763762BRCA1c.5275-5T= (n.5275-5T=)
c.5278-5T= (n.5278-5T=)
c.5152-5T= (n.5152-5T=)
c.5272-5T= (n.5272-5T=)
c.5200-5T= (n.5200-5T=)
c.1966-5T= (n.1966-5T=)
c.1828-5T= (n.1828-5T=)
c.4390-5T= (n.4390-5T=)
c.5155-5T= (n.5155-5T=)
c.5344-5T= (n.5344-5T=)
c.5137-5T= (n.5137-5T=)
c.1840-5T= (n.1840-5T=)
c.5341-5T= (n.5341-5T=)
c.1665-5T=
c.1852-5T= (n.1852-5T=)
c.*5061-5T= (n.*5061-5T=)
c.208-5T= (n.208-5T=)
c.751-5T= (n.751-5T=)
c.-98-932T= (n.-98-932T=)
n.5414-5T=
n.5455-5T=
17g.43051122A>CCA916081052BRCA1c.5275-5T>G (n.5275-5T>G)
c.5278-5T>G (n.5278-5T>G)
c.5152-5T>G (n.5152-5T>G)
c.5272-5T>G (n.5272-5T>G)
c.5200-5T>G (n.5200-5T>G)
c.1966-5T>G (n.1966-5T>G)
c.1828-5T>G (n.1828-5T>G)
c.4390-5T>G (n.4390-5T>G)
c.5155-5T>G (n.5155-5T>G)
c.5344-5T>G (n.5344-5T>G)
c.5137-5T>G (n.5137-5T>G)
c.1840-5T>G (n.1840-5T>G)
c.5341-5T>G (n.5341-5T>G)
c.1665-5T>G
c.1852-5T>G (n.1852-5T>G)
c.*5061-5T>G (n.*5061-5T>G)
c.208-5T>G (n.208-5T>G)
c.751-5T>G (n.751-5T>G)
c.-98-932T>G (n.-98-932T>G)
n.5414-5T>G
n.5455-5T>G
 ClinVar dbSNP
17g.43051122A>GCA916081054BRCA1c.5275-5T>C (n.5275-5T>C)
c.5278-5T>C (n.5278-5T>C)
c.5152-5T>C (n.5152-5T>C)
c.5272-5T>C (n.5272-5T>C)
c.5200-5T>C (n.5200-5T>C)
c.1966-5T>C (n.1966-5T>C)
c.1828-5T>C (n.1828-5T>C)
c.4390-5T>C (n.4390-5T>C)
c.5155-5T>C (n.5155-5T>C)
c.5344-5T>C (n.5344-5T>C)
c.5137-5T>C (n.5137-5T>C)
c.1840-5T>C (n.1840-5T>C)
c.5341-5T>C (n.5341-5T>C)
c.1665-5T>C
c.1852-5T>C (n.1852-5T>C)
c.*5061-5T>C (n.*5061-5T>C)
c.208-5T>C (n.208-5T>C)
c.751-5T>C (n.751-5T>C)
c.-98-932T>C (n.-98-932T>C)
n.5414-5T>C
n.5455-5T>C
 ClinVar dbSNP
17g.43051122A>TCA916081053BRCA1c.5275-5T>A (n.5275-5T>A)
c.5278-5T>A (n.5278-5T>A)
c.5152-5T>A (n.5152-5T>A)
c.5272-5T>A (n.5272-5T>A)
c.5200-5T>A (n.5200-5T>A)
c.1966-5T>A (n.1966-5T>A)
c.1828-5T>A (n.1828-5T>A)
c.4390-5T>A (n.4390-5T>A)
c.5155-5T>A (n.5155-5T>A)
c.5344-5T>A (n.5344-5T>A)
c.5137-5T>A (n.5137-5T>A)
c.1840-5T>A (n.1840-5T>A)
c.5341-5T>A (n.5341-5T>A)
c.1665-5T>A
c.1852-5T>A (n.1852-5T>A)
c.*5061-5T>A (n.*5061-5T>A)
c.208-5T>A (n.208-5T>A)
c.751-5T>A (n.751-5T>A)
c.-98-932T>A (n.-98-932T>A)
n.5414-5T>A
n.5455-5T>A
 ClinVar dbSNP
17g.43051123A=CA2260763763BRCA1c.5275-6T= (n.5275-6T=)
c.5278-6T= (n.5278-6T=)
c.5152-6T= (n.5152-6T=)
c.5272-6T= (n.5272-6T=)
c.5200-6T= (n.5200-6T=)
c.1966-6T= (n.1966-6T=)
c.1828-6T= (n.1828-6T=)
c.4390-6T= (n.4390-6T=)
c.5155-6T= (n.5155-6T=)
c.5344-6T= (n.5344-6T=)
c.5137-6T= (n.5137-6T=)
c.1840-6T= (n.1840-6T=)
c.5341-6T= (n.5341-6T=)
c.1665-6T=
c.1852-6T= (n.1852-6T=)
c.*5061-6T= (n.*5061-6T=)
c.208-6T= (n.208-6T=)
c.751-6T= (n.751-6T=)
c.-98-933T= (n.-98-933T=)
n.5414-6T=
n.5455-6T=
17g.43051123A>CCA916081055BRCA1c.5275-6T>G (n.5275-6T>G)
c.5278-6T>G (n.5278-6T>G)
c.5152-6T>G (n.5152-6T>G)
c.5272-6T>G (n.5272-6T>G)
c.5200-6T>G (n.5200-6T>G)
c.1966-6T>G (n.1966-6T>G)
c.1828-6T>G (n.1828-6T>G)
c.4390-6T>G (n.4390-6T>G)
c.5155-6T>G (n.5155-6T>G)
c.5344-6T>G (n.5344-6T>G)
c.5137-6T>G (n.5137-6T>G)
c.1840-6T>G (n.1840-6T>G)
c.5341-6T>G (n.5341-6T>G)
c.1665-6T>G
c.1852-6T>G (n.1852-6T>G)
c.*5061-6T>G (n.*5061-6T>G)
c.208-6T>G (n.208-6T>G)
c.751-6T>G (n.751-6T>G)
c.-98-933T>G (n.-98-933T>G)
n.5414-6T>G
n.5455-6T>G
 ClinVar dbSNP
17g.43051123A>GCA645373151BRCA1c.5275-6T>C (n.5275-6T>C)
c.5278-6T>C (n.5278-6T>C)
c.5152-6T>C (n.5152-6T>C)
c.5272-6T>C (n.5272-6T>C)
c.5200-6T>C (n.5200-6T>C)
c.1966-6T>C (n.1966-6T>C)
c.1828-6T>C (n.1828-6T>C)
c.4390-6T>C (n.4390-6T>C)
c.5155-6T>C (n.5155-6T>C)
c.5344-6T>C (n.5344-6T>C)
c.5137-6T>C (n.5137-6T>C)
c.1840-6T>C (n.1840-6T>C)
c.5341-6T>C (n.5341-6T>C)
c.1665-6T>C
c.1852-6T>C (n.1852-6T>C)
c.*5061-6T>C (n.*5061-6T>C)
c.208-6T>C (n.208-6T>C)
c.751-6T>C (n.751-6T>C)
c.-98-933T>C (n.-98-933T>C)
n.5414-6T>C
n.5455-6T>C
 ClinVar dbSNP
17g.43051123A>TCA916081056BRCA1c.5275-6T>A (n.5275-6T>A)
c.5278-6T>A (n.5278-6T>A)
c.5152-6T>A (n.5152-6T>A)
c.5272-6T>A (n.5272-6T>A)
c.5200-6T>A (n.5200-6T>A)
c.1966-6T>A (n.1966-6T>A)
c.1828-6T>A (n.1828-6T>A)
c.4390-6T>A (n.4390-6T>A)
c.5155-6T>A (n.5155-6T>A)
c.5344-6T>A (n.5344-6T>A)
c.5137-6T>A (n.5137-6T>A)
c.1840-6T>A (n.1840-6T>A)
c.5341-6T>A (n.5341-6T>A)
c.1665-6T>A
c.1852-6T>A (n.1852-6T>A)
c.*5061-6T>A (n.*5061-6T>A)
c.208-6T>A (n.208-6T>A)
c.751-6T>A (n.751-6T>A)
c.-98-933T>A (n.-98-933T>A)
n.5414-6T>A
n.5455-6T>A
 ClinVar dbSNP
17g.43051124G>ACA916081060BRCA1c.5275-7C>T (n.5275-7C>T)
c.5278-7C>T (n.5278-7C>T)
c.5152-7C>T (n.5152-7C>T)
c.5272-7C>T (n.5272-7C>T)
c.5200-7C>T (n.5200-7C>T)
c.1966-7C>T (n.1966-7C>T)
c.1828-7C>T (n.1828-7C>T)
c.4390-7C>T (n.4390-7C>T)
c.5155-7C>T (n.5155-7C>T)
c.5344-7C>T (n.5344-7C>T)
c.5137-7C>T (n.5137-7C>T)
c.1840-7C>T (n.1840-7C>T)
c.5341-7C>T (n.5341-7C>T)
c.1665-7C>T
c.1852-7C>T (n.1852-7C>T)
c.*5061-7C>T (n.*5061-7C>T)
c.208-7C>T (n.208-7C>T)
c.751-7C>T (n.751-7C>T)
c.-98-934C>T (n.-98-934C>T)
n.5414-7C>T
n.5455-7C>T
 ClinVar dbSNP
17g.43051124G>CCA916081059BRCA1c.5275-7C>G (n.5275-7C>G)
c.5278-7C>G (n.5278-7C>G)
c.5152-7C>G (n.5152-7C>G)
c.5272-7C>G (n.5272-7C>G)
c.5200-7C>G (n.5200-7C>G)
c.1966-7C>G (n.1966-7C>G)
c.1828-7C>G (n.1828-7C>G)
c.4390-7C>G (n.4390-7C>G)
c.5155-7C>G (n.5155-7C>G)
c.5344-7C>G (n.5344-7C>G)
c.5137-7C>G (n.5137-7C>G)
c.1840-7C>G (n.1840-7C>G)
c.5341-7C>G (n.5341-7C>G)
c.1665-7C>G
c.1852-7C>G (n.1852-7C>G)
c.*5061-7C>G (n.*5061-7C>G)
c.208-7C>G (n.208-7C>G)
c.751-7C>G (n.751-7C>G)
c.-98-934C>G (n.-98-934C>G)
n.5414-7C>G
n.5455-7C>G
 ClinVar dbSNP
17g.43051124G=CA2260763764BRCA1c.5275-7C= (n.5275-7C=)
c.5278-7C= (n.5278-7C=)
c.5152-7C= (n.5152-7C=)
c.5272-7C= (n.5272-7C=)
c.5200-7C= (n.5200-7C=)
c.1966-7C= (n.1966-7C=)
c.1828-7C= (n.1828-7C=)
c.4390-7C= (n.4390-7C=)
c.5155-7C= (n.5155-7C=)
c.5344-7C= (n.5344-7C=)
c.5137-7C= (n.5137-7C=)
c.1840-7C= (n.1840-7C=)
c.5341-7C= (n.5341-7C=)
c.1665-7C=
c.1852-7C= (n.1852-7C=)
c.*5061-7C= (n.*5061-7C=)
c.208-7C= (n.208-7C=)
c.751-7C= (n.751-7C=)
c.-98-934C= (n.-98-934C=)
n.5414-7C=
n.5455-7C=
17g.43051124G>TCA916081057BRCA1c.5275-7C>A (n.5275-7C>A)
c.5278-7C>A (n.5278-7C>A)
c.5152-7C>A (n.5152-7C>A)
c.5272-7C>A (n.5272-7C>A)
c.5200-7C>A (n.5200-7C>A)
c.1966-7C>A (n.1966-7C>A)
c.1828-7C>A (n.1828-7C>A)
c.4390-7C>A (n.4390-7C>A)
c.5155-7C>A (n.5155-7C>A)
c.5344-7C>A (n.5344-7C>A)
c.5137-7C>A (n.5137-7C>A)
c.1840-7C>A (n.1840-7C>A)
c.5341-7C>A (n.5341-7C>A)
c.1665-7C>A
c.1852-7C>A (n.1852-7C>A)
c.*5061-7C>A (n.*5061-7C>A)
c.208-7C>A (n.208-7C>A)
c.751-7C>A (n.751-7C>A)
c.-98-934C>A (n.-98-934C>A)
n.5414-7C>A
n.5455-7C>A
 ClinVar dbSNP
17g.43051125A=CA2260763765BRCA1c.5275-8T= (n.5275-8T=)
c.5278-8T= (n.5278-8T=)
c.5152-8T= (n.5152-8T=)
c.5272-8T= (n.5272-8T=)
c.5200-8T= (n.5200-8T=)
c.1966-8T= (n.1966-8T=)
c.1828-8T= (n.1828-8T=)
c.4390-8T= (n.4390-8T=)
c.5155-8T= (n.5155-8T=)
c.5344-8T= (n.5344-8T=)
c.5137-8T= (n.5137-8T=)
c.1840-8T= (n.1840-8T=)
c.5341-8T= (n.5341-8T=)
c.1665-8T=
c.1852-8T= (n.1852-8T=)
c.*5061-8T= (n.*5061-8T=)
c.208-8T= (n.208-8T=)
c.751-8T= (n.751-8T=)
c.-98-935T= (n.-98-935T=)
n.5414-8T=
n.5455-8T=
17g.43051125A>CCA916081064BRCA1c.5275-8T>G (n.5275-8T>G)
c.5278-8T>G (n.5278-8T>G)
c.5152-8T>G (n.5152-8T>G)
c.5272-8T>G (n.5272-8T>G)
c.5200-8T>G (n.5200-8T>G)
c.1966-8T>G (n.1966-8T>G)
c.1828-8T>G (n.1828-8T>G)
c.4390-8T>G (n.4390-8T>G)
c.5155-8T>G (n.5155-8T>G)
c.5344-8T>G (n.5344-8T>G)
c.5137-8T>G (n.5137-8T>G)
c.1840-8T>G (n.1840-8T>G)
c.5341-8T>G (n.5341-8T>G)
c.1665-8T>G
c.1852-8T>G (n.1852-8T>G)
c.*5061-8T>G (n.*5061-8T>G)
c.208-8T>G (n.208-8T>G)
c.751-8T>G (n.751-8T>G)
c.-98-935T>G (n.-98-935T>G)
n.5414-8T>G
n.5455-8T>G
 ClinVar dbSNP
17g.43051125A>GCA916081063BRCA1c.5275-8T>C (n.5275-8T>C)
c.5278-8T>C (n.5278-8T>C)
c.5152-8T>C (n.5152-8T>C)
c.5272-8T>C (n.5272-8T>C)
c.5200-8T>C (n.5200-8T>C)
c.1966-8T>C (n.1966-8T>C)
c.1828-8T>C (n.1828-8T>C)
c.4390-8T>C (n.4390-8T>C)
c.5155-8T>C (n.5155-8T>C)
c.5344-8T>C (n.5344-8T>C)
c.5137-8T>C (n.5137-8T>C)
c.1840-8T>C (n.1840-8T>C)
c.5341-8T>C (n.5341-8T>C)
c.1665-8T>C
c.1852-8T>C (n.1852-8T>C)
c.*5061-8T>C (n.*5061-8T>C)
c.208-8T>C (n.208-8T>C)
c.751-8T>C (n.751-8T>C)
c.-98-935T>C (n.-98-935T>C)
n.5414-8T>C
n.5455-8T>C
 ClinVar dbSNP
17g.43051125A>TCA916081062BRCA1c.5275-8T>A (n.5275-8T>A)
c.5278-8T>A (n.5278-8T>A)
c.5152-8T>A (n.5152-8T>A)
c.5272-8T>A (n.5272-8T>A)
c.5200-8T>A (n.5200-8T>A)
c.1966-8T>A (n.1966-8T>A)
c.1828-8T>A (n.1828-8T>A)
c.4390-8T>A (n.4390-8T>A)
c.5155-8T>A (n.5155-8T>A)
c.5344-8T>A (n.5344-8T>A)
c.5137-8T>A (n.5137-8T>A)
c.1840-8T>A (n.1840-8T>A)
c.5341-8T>A (n.5341-8T>A)
c.1665-8T>A
c.1852-8T>A (n.1852-8T>A)
c.*5061-8T>A (n.*5061-8T>A)
c.208-8T>A (n.208-8T>A)
c.751-8T>A (n.751-8T>A)
c.-98-935T>A (n.-98-935T>A)
n.5414-8T>A
n.5455-8T>A
 ClinVar dbSNP
17g.43051126A=CA2260763766BRCA1c.5275-9T= (n.5275-9T=)
c.5278-9T= (n.5278-9T=)
c.5152-9T= (n.5152-9T=)
c.5272-9T= (n.5272-9T=)
c.5200-9T= (n.5200-9T=)
c.1966-9T= (n.1966-9T=)
c.1828-9T= (n.1828-9T=)
c.4390-9T= (n.4390-9T=)
c.5155-9T= (n.5155-9T=)
c.5344-9T= (n.5344-9T=)
c.5137-9T= (n.5137-9T=)
c.1840-9T= (n.1840-9T=)
c.5341-9T= (n.5341-9T=)
c.1665-9T=
c.1852-9T= (n.1852-9T=)
c.*5061-9T= (n.*5061-9T=)
c.208-9T= (n.208-9T=)
c.751-9T= (n.751-9T=)
c.-98-936T= (n.-98-936T=)
n.5414-9T=
n.5455-9T=
17g.43051126A>CCA916081065BRCA1c.5275-9T>G (n.5275-9T>G)
c.5278-9T>G (n.5278-9T>G)
c.5152-9T>G (n.5152-9T>G)
c.5272-9T>G (n.5272-9T>G)
c.5200-9T>G (n.5200-9T>G)
c.1966-9T>G (n.1966-9T>G)
c.1828-9T>G (n.1828-9T>G)
c.4390-9T>G (n.4390-9T>G)
c.5155-9T>G (n.5155-9T>G)
c.5344-9T>G (n.5344-9T>G)
c.5137-9T>G (n.5137-9T>G)
c.1840-9T>G (n.1840-9T>G)
c.5341-9T>G (n.5341-9T>G)
c.1665-9T>G
c.1852-9T>G (n.1852-9T>G)
c.*5061-9T>G (n.*5061-9T>G)
c.208-9T>G (n.208-9T>G)
c.751-9T>G (n.751-9T>G)
c.-98-936T>G (n.-98-936T>G)
n.5414-9T>G
n.5455-9T>G
 ClinVar dbSNP
17g.43051126A>GCA916081067BRCA1c.5275-9T>C (n.5275-9T>C)
c.5278-9T>C (n.5278-9T>C)
c.5152-9T>C (n.5152-9T>C)
c.5272-9T>C (n.5272-9T>C)
c.5200-9T>C (n.5200-9T>C)
c.1966-9T>C (n.1966-9T>C)
c.1828-9T>C (n.1828-9T>C)
c.4390-9T>C (n.4390-9T>C)
c.5155-9T>C (n.5155-9T>C)
c.5344-9T>C (n.5344-9T>C)
c.5137-9T>C (n.5137-9T>C)
c.1840-9T>C (n.1840-9T>C)
c.5341-9T>C (n.5341-9T>C)
c.1665-9T>C
c.1852-9T>C (n.1852-9T>C)
c.*5061-9T>C (n.*5061-9T>C)
c.208-9T>C (n.208-9T>C)
c.751-9T>C (n.751-9T>C)
c.-98-936T>C (n.-98-936T>C)
n.5414-9T>C
n.5455-9T>C
 ClinVar dbSNP
17g.43051126A>TCA916081066BRCA1c.5275-9T>A (n.5275-9T>A)
c.5278-9T>A (n.5278-9T>A)
c.5152-9T>A (n.5152-9T>A)
c.5272-9T>A (n.5272-9T>A)
c.5200-9T>A (n.5200-9T>A)
c.1966-9T>A (n.1966-9T>A)
c.1828-9T>A (n.1828-9T>A)
c.4390-9T>A (n.4390-9T>A)
c.5155-9T>A (n.5155-9T>A)
c.5344-9T>A (n.5344-9T>A)
c.5137-9T>A (n.5137-9T>A)
c.1840-9T>A (n.1840-9T>A)
c.5341-9T>A (n.5341-9T>A)
c.1665-9T>A
c.1852-9T>A (n.1852-9T>A)
c.*5061-9T>A (n.*5061-9T>A)
c.208-9T>A (n.208-9T>A)
c.751-9T>A (n.751-9T>A)
c.-98-936T>A (n.-98-936T>A)
n.5414-9T>A
n.5455-9T>A
 ClinVar dbSNP
17g.43051127G>ACA916081071BRCA1c.5275-10C>T (n.5275-10C>T)
c.5278-10C>T (n.5278-10C>T)
c.5152-10C>T (n.5152-10C>T)
c.5272-10C>T (n.5272-10C>T)
c.5200-10C>T (n.5200-10C>T)
c.1966-10C>T (n.1966-10C>T)
c.1828-10C>T (n.1828-10C>T)
c.4390-10C>T (n.4390-10C>T)
c.5155-10C>T (n.5155-10C>T)
c.5344-10C>T (n.5344-10C>T)
c.5137-10C>T (n.5137-10C>T)
c.1840-10C>T (n.1840-10C>T)
c.5341-10C>T (n.5341-10C>T)
c.1665-10C>T
c.1852-10C>T (n.1852-10C>T)
c.*5061-10C>T (n.*5061-10C>T)
c.208-10C>T (n.208-10C>T)
c.751-10C>T (n.751-10C>T)
c.-98-937C>T (n.-98-937C>T)
n.5414-10C>T
n.5455-10C>T
 ClinVar dbSNP
17g.43051127G>CCA916081069BRCA1c.5275-10C>G (n.5275-10C>G)
c.5278-10C>G (n.5278-10C>G)
c.5152-10C>G (n.5152-10C>G)
c.5272-10C>G (n.5272-10C>G)
c.5200-10C>G (n.5200-10C>G)
c.1966-10C>G (n.1966-10C>G)
c.1828-10C>G (n.1828-10C>G)
c.4390-10C>G (n.4390-10C>G)
c.5155-10C>G (n.5155-10C>G)
c.5344-10C>G (n.5344-10C>G)
c.5137-10C>G (n.5137-10C>G)
c.1840-10C>G (n.1840-10C>G)
c.5341-10C>G (n.5341-10C>G)
c.1665-10C>G
c.1852-10C>G (n.1852-10C>G)
c.*5061-10C>G (n.*5061-10C>G)
c.208-10C>G (n.208-10C>G)
c.751-10C>G (n.751-10C>G)
c.-98-937C>G (n.-98-937C>G)
n.5414-10C>G
n.5455-10C>G
 ClinVar dbSNP
17g.43051127G=CA2260763767BRCA1c.5275-10C= (n.5275-10C=)
c.5278-10C= (n.5278-10C=)
c.5152-10C= (n.5152-10C=)
c.5272-10C= (n.5272-10C=)
c.5200-10C= (n.5200-10C=)
c.1966-10C= (n.1966-10C=)
c.1828-10C= (n.1828-10C=)
c.4390-10C= (n.4390-10C=)
c.5155-10C= (n.5155-10C=)
c.5344-10C= (n.5344-10C=)
c.5137-10C= (n.5137-10C=)
c.1840-10C= (n.1840-10C=)
c.5341-10C= (n.5341-10C=)
c.1665-10C=
c.1852-10C= (n.1852-10C=)
c.*5061-10C= (n.*5061-10C=)
c.208-10C= (n.208-10C=)
c.751-10C= (n.751-10C=)
c.-98-937C= (n.-98-937C=)
n.5414-10C=
n.5455-10C=
17g.43051127G>TCA916081068BRCA1c.5275-10C>A (n.5275-10C>A)
c.5278-10C>A (n.5278-10C>A)
c.5152-10C>A (n.5152-10C>A)
c.5272-10C>A (n.5272-10C>A)
c.5200-10C>A (n.5200-10C>A)
c.1966-10C>A (n.1966-10C>A)
c.1828-10C>A (n.1828-10C>A)
c.4390-10C>A (n.4390-10C>A)
c.5155-10C>A (n.5155-10C>A)
c.5344-10C>A (n.5344-10C>A)
c.5137-10C>A (n.5137-10C>A)
c.1840-10C>A (n.1840-10C>A)
c.5341-10C>A (n.5341-10C>A)
c.1665-10C>A
c.1852-10C>A (n.1852-10C>A)
c.*5061-10C>A (n.*5061-10C>A)
c.208-10C>A (n.208-10C>A)
c.751-10C>A (n.751-10C>A)
c.-98-937C>A (n.-98-937C>A)
n.5414-10C>A
n.5455-10C>A
 ClinVar dbSNP
17g.43051128A=CA2260763769BRCA1c.5275-11T= (n.5275-11T=)
c.5278-11T= (n.5278-11T=)
c.5152-11T= (n.5152-11T=)
c.5272-11T= (n.5272-11T=)
c.5200-11T= (n.5200-11T=)
c.1966-11T= (n.1966-11T=)
c.1828-11T= (n.1828-11T=)
c.4390-11T= (n.4390-11T=)
c.5155-11T= (n.5155-11T=)
c.5344-11T= (n.5344-11T=)
c.5137-11T= (n.5137-11T=)
c.1840-11T= (n.1840-11T=)
c.5341-11T= (n.5341-11T=)
c.1665-11T=
c.1852-11T= (n.1852-11T=)
c.*5061-11T= (n.*5061-11T=)
c.208-11T= (n.208-11T=)
c.751-11T= (n.751-11T=)
c.-98-938T= (n.-98-938T=)
n.5414-11T=
n.5455-11T=
17g.43051128A>CCA916081073BRCA1c.5275-11T>G (n.5275-11T>G)
c.5278-11T>G (n.5278-11T>G)
c.5152-11T>G (n.5152-11T>G)
c.5272-11T>G (n.5272-11T>G)
c.5200-11T>G (n.5200-11T>G)
c.1966-11T>G (n.1966-11T>G)
c.1828-11T>G (n.1828-11T>G)
c.4390-11T>G (n.4390-11T>G)
c.5155-11T>G (n.5155-11T>G)
c.5344-11T>G (n.5344-11T>G)
c.5137-11T>G (n.5137-11T>G)
c.1840-11T>G (n.1840-11T>G)
c.5341-11T>G (n.5341-11T>G)
c.1665-11T>G
c.1852-11T>G (n.1852-11T>G)
c.*5061-11T>G (n.*5061-11T>G)
c.208-11T>G (n.208-11T>G)
c.751-11T>G (n.751-11T>G)
c.-98-938T>G (n.-98-938T>G)
n.5414-11T>G
n.5455-11T>G
 ClinVar dbSNP
17g.43051128A>GCA913187794BRCA1c.5275-11T>C (n.5275-11T>C)
c.5278-11T>C (n.5278-11T>C)
c.5152-11T>C (n.5152-11T>C)
c.5272-11T>C (n.5272-11T>C)
c.5200-11T>C (n.5200-11T>C)
c.1966-11T>C (n.1966-11T>C)
c.1828-11T>C (n.1828-11T>C)
c.4390-11T>C (n.4390-11T>C)
c.5155-11T>C (n.5155-11T>C)
c.5344-11T>C (n.5344-11T>C)
c.5137-11T>C (n.5137-11T>C)
c.1840-11T>C (n.1840-11T>C)
c.5341-11T>C (n.5341-11T>C)
c.1665-11T>C
c.1852-11T>C (n.1852-11T>C)
c.*5061-11T>C (n.*5061-11T>C)
c.208-11T>C (n.208-11T>C)
c.751-11T>C (n.751-11T>C)
c.-98-938T>C (n.-98-938T>C)
n.5414-11T>C
n.5455-11T>C
 ClinVar dbSNP
17g.43051128A>TCA916081072BRCA1c.5275-11T>A (n.5275-11T>A)
c.5278-11T>A (n.5278-11T>A)
c.5152-11T>A (n.5152-11T>A)
c.5272-11T>A (n.5272-11T>A)
c.5200-11T>A (n.5200-11T>A)
c.1966-11T>A (n.1966-11T>A)
c.1828-11T>A (n.1828-11T>A)
c.4390-11T>A (n.4390-11T>A)
c.5155-11T>A (n.5155-11T>A)
c.5344-11T>A (n.5344-11T>A)
c.5137-11T>A (n.5137-11T>A)
c.1840-11T>A (n.1840-11T>A)
c.5341-11T>A (n.5341-11T>A)
c.1665-11T>A
c.1852-11T>A (n.1852-11T>A)
c.*5061-11T>A (n.*5061-11T>A)
c.208-11T>A (n.208-11T>A)
c.751-11T>A (n.751-11T>A)
c.-98-938T>A (n.-98-938T>A)
n.5414-11T>A
n.5455-11T>A
 ClinVar dbSNP
17g.43051130_43051131insTCTTGTGACAACAGGACAAGAAATTGAAGACA2260763768BRCA1c.5275-11_5275-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5275-11_5275-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5278-11_5278-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5152-11_5152-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5152-11_5152-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5272-11_5272-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5272-11_5272-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5200-11_5200-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.1966-11_1966-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.1828-11_1828-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.4390-11_4390-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.4390-11_4390-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5155-11_5155-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5155-11_5155-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5344-11_5344-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5344-11_5344-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5137-11_5137-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.1840-11_1840-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.1840-11_1840-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.5341-11_5341-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.1665-11_1665-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT
c.1852-11_1852-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.1852-11_1852-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.*5061-11_*5061-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.*5061-11_*5061-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.208-11_208-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.208-11_208-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.751-11_751-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.751-11_751-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
c.-98-938_-98-937insTCAATTTCTTGTCCTGTTGTCACAAGATCT (n.-98-938_-98-937insTCAATTTCTTGTCCTGTTGTCACAAGATCT)
n.5414-11_5414-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT
n.5455-11_5455-10insTCAATTTCTTGTCCTGTTGTCACAAGATCT
 dbSNP
17g.43051129G>ACA916081074BRCA1c.5275-12C>T (n.5275-12C>T)
c.5278-12C>T (n.5278-12C>T)
c.5152-12C>T (n.5152-12C>T)
c.5272-12C>T (n.5272-12C>T)
c.5200-12C>T (n.5200-12C>T)
c.1966-12C>T (n.1966-12C>T)
c.1828-12C>T (n.1828-12C>T)
c.4390-12C>T (n.4390-12C>T)
c.5155-12C>T (n.5155-12C>T)
c.5344-12C>T (n.5344-12C>T)
c.5137-12C>T (n.5137-12C>T)
c.1840-12C>T (n.1840-12C>T)
c.5341-12C>T (n.5341-12C>T)
c.1665-12C>T
c.1852-12C>T (n.1852-12C>T)
c.*5061-12C>T (n.*5061-12C>T)
c.208-12C>T (n.208-12C>T)
c.751-12C>T (n.751-12C>T)
c.-98-939C>T (n.-98-939C>T)
n.5414-12C>T
n.5455-12C>T
 ClinVar dbSNP gnomAD v4
17g.43051129G>CCA915950044BRCA1c.5275-12C>G (n.5275-12C>G)
c.5278-12C>G (n.5278-12C>G)
c.5152-12C>G (n.5152-12C>G)
c.5272-12C>G (n.5272-12C>G)
c.5200-12C>G (n.5200-12C>G)
c.1966-12C>G (n.1966-12C>G)
c.1828-12C>G (n.1828-12C>G)
c.4390-12C>G (n.4390-12C>G)
c.5155-12C>G (n.5155-12C>G)
c.5344-12C>G (n.5344-12C>G)
c.5137-12C>G (n.5137-12C>G)
c.1840-12C>G (n.1840-12C>G)
c.5341-12C>G (n.5341-12C>G)
c.1665-12C>G
c.1852-12C>G (n.1852-12C>G)
c.*5061-12C>G (n.*5061-12C>G)
c.208-12C>G (n.208-12C>G)
c.751-12C>G (n.751-12C>G)
c.-98-939C>G (n.-98-939C>G)
n.5414-12C>G
n.5455-12C>G
 ClinVar dbSNP
17g.43051129G=CA2260763770BRCA1c.5275-12C= (n.5275-12C=)
c.5278-12C= (n.5278-12C=)
c.5152-12C= (n.5152-12C=)
c.5272-12C= (n.5272-12C=)
c.5200-12C= (n.5200-12C=)
c.1966-12C= (n.1966-12C=)
c.1828-12C= (n.1828-12C=)
c.4390-12C= (n.4390-12C=)
c.5155-12C= (n.5155-12C=)
c.5344-12C= (n.5344-12C=)
c.5137-12C= (n.5137-12C=)
c.1840-12C= (n.1840-12C=)
c.5341-12C= (n.5341-12C=)
c.1665-12C=
c.1852-12C= (n.1852-12C=)
c.*5061-12C= (n.*5061-12C=)
c.208-12C= (n.208-12C=)
c.751-12C= (n.751-12C=)
c.-98-939C= (n.-98-939C=)
n.5414-12C=
n.5455-12C=
17g.43051129G>TCA916081075BRCA1c.5275-12C>A (n.5275-12C>A)
c.5278-12C>A (n.5278-12C>A)
c.5152-12C>A (n.5152-12C>A)
c.5272-12C>A (n.5272-12C>A)
c.5200-12C>A (n.5200-12C>A)
c.1966-12C>A (n.1966-12C>A)
c.1828-12C>A (n.1828-12C>A)
c.4390-12C>A (n.4390-12C>A)
c.5155-12C>A (n.5155-12C>A)
c.5344-12C>A (n.5344-12C>A)
c.5137-12C>A (n.5137-12C>A)
c.1840-12C>A (n.1840-12C>A)
c.5341-12C>A (n.5341-12C>A)
c.1665-12C>A
c.1852-12C>A (n.1852-12C>A)
c.*5061-12C>A (n.*5061-12C>A)
c.208-12C>A (n.208-12C>A)
c.751-12C>A (n.751-12C>A)
c.-98-939C>A (n.-98-939C>A)
n.5414-12C>A
n.5455-12C>A
 ClinVar dbSNP
17g.43051130A=CA2260763771BRCA1c.5275-13T= (n.5275-13T=)
c.5278-13T= (n.5278-13T=)
c.5152-13T= (n.5152-13T=)
c.5272-13T= (n.5272-13T=)
c.5200-13T= (n.5200-13T=)
c.1966-13T= (n.1966-13T=)
c.1828-13T= (n.1828-13T=)
c.4390-13T= (n.4390-13T=)
c.5155-13T= (n.5155-13T=)
c.5344-13T= (n.5344-13T=)
c.5137-13T= (n.5137-13T=)
c.1840-13T= (n.1840-13T=)
c.5341-13T= (n.5341-13T=)
c.1665-13T=
c.1852-13T= (n.1852-13T=)
c.*5061-13T= (n.*5061-13T=)
c.208-13T= (n.208-13T=)
c.751-13T= (n.751-13T=)
c.-98-940T= (n.-98-940T=)
n.5414-13T=
n.5455-13T=
17g.43051130A>CCA916081077BRCA1c.5275-13T>G (n.5275-13T>G)
c.5278-13T>G (n.5278-13T>G)
c.5152-13T>G (n.5152-13T>G)
c.5272-13T>G (n.5272-13T>G)
c.5200-13T>G (n.5200-13T>G)
c.1966-13T>G (n.1966-13T>G)
c.1828-13T>G (n.1828-13T>G)
c.4390-13T>G (n.4390-13T>G)
c.5155-13T>G (n.5155-13T>G)
c.5344-13T>G (n.5344-13T>G)
c.5137-13T>G (n.5137-13T>G)
c.1840-13T>G (n.1840-13T>G)
c.5341-13T>G (n.5341-13T>G)
c.1665-13T>G
c.1852-13T>G (n.1852-13T>G)
c.*5061-13T>G (n.*5061-13T>G)
c.208-13T>G (n.208-13T>G)
c.751-13T>G (n.751-13T>G)
c.-98-940T>G (n.-98-940T>G)
n.5414-13T>G
n.5455-13T>G
 ClinVar dbSNP gnomAD v4
17g.43051130A>GCA916081078BRCA1c.5275-13T>C (n.5275-13T>C)
c.5278-13T>C (n.5278-13T>C)
c.5152-13T>C (n.5152-13T>C)
c.5272-13T>C (n.5272-13T>C)
c.5200-13T>C (n.5200-13T>C)
c.1966-13T>C (n.1966-13T>C)
c.1828-13T>C (n.1828-13T>C)
c.4390-13T>C (n.4390-13T>C)
c.5155-13T>C (n.5155-13T>C)
c.5344-13T>C (n.5344-13T>C)
c.5137-13T>C (n.5137-13T>C)
c.1840-13T>C (n.1840-13T>C)
c.5341-13T>C (n.5341-13T>C)
c.1665-13T>C
c.1852-13T>C (n.1852-13T>C)
c.*5061-13T>C (n.*5061-13T>C)
c.208-13T>C (n.208-13T>C)
c.751-13T>C (n.751-13T>C)
c.-98-940T>C (n.-98-940T>C)
n.5414-13T>C
n.5455-13T>C
 ClinVar dbSNP
17g.43051130A>TCA916081079BRCA1c.5275-13T>A (n.5275-13T>A)
c.5278-13T>A (n.5278-13T>A)
c.5152-13T>A (n.5152-13T>A)
c.5272-13T>A (n.5272-13T>A)
c.5200-13T>A (n.5200-13T>A)
c.1966-13T>A (n.1966-13T>A)
c.1828-13T>A (n.1828-13T>A)
c.4390-13T>A (n.4390-13T>A)
c.5155-13T>A (n.5155-13T>A)
c.5344-13T>A (n.5344-13T>A)
c.5137-13T>A (n.5137-13T>A)
c.1840-13T>A (n.1840-13T>A)
c.5341-13T>A (n.5341-13T>A)
c.1665-13T>A
c.1852-13T>A (n.1852-13T>A)
c.*5061-13T>A (n.*5061-13T>A)
c.208-13T>A (n.208-13T>A)
c.751-13T>A (n.751-13T>A)
c.-98-940T>A (n.-98-940T>A)
n.5414-13T>A
n.5455-13T>A
 ClinVar dbSNP
17g.43051131G>ACA916081081BRCA1c.5275-14C>T (n.5275-14C>T)
c.5278-14C>T (n.5278-14C>T)
c.5152-14C>T (n.5152-14C>T)
c.5272-14C>T (n.5272-14C>T)
c.5200-14C>T (n.5200-14C>T)
c.1966-14C>T (n.1966-14C>T)
c.1828-14C>T (n.1828-14C>T)
c.4390-14C>T (n.4390-14C>T)
c.5155-14C>T (n.5155-14C>T)
c.5344-14C>T (n.5344-14C>T)
c.5137-14C>T (n.5137-14C>T)
c.1840-14C>T (n.1840-14C>T)
c.5341-14C>T (n.5341-14C>T)
c.1665-14C>T
c.1852-14C>T (n.1852-14C>T)
c.*5061-14C>T (n.*5061-14C>T)
c.208-14C>T (n.208-14C>T)
c.751-14C>T (n.751-14C>T)
c.-98-941C>T (n.-98-941C>T)
n.5414-14C>T
n.5455-14C>T
 ClinVar dbSNP
17g.43051131G>CCA003431BRCA1c.5275-14C>G (n.5275-14C>G)
c.5278-14C>G (n.5278-14C>G)
c.5152-14C>G (n.5152-14C>G)
c.5272-14C>G (n.5272-14C>G)
c.5200-14C>G (n.5200-14C>G)
c.1966-14C>G (n.1966-14C>G)
c.1828-14C>G (n.1828-14C>G)
c.4390-14C>G (n.4390-14C>G)
c.5155-14C>G (n.5155-14C>G)
c.5344-14C>G (n.5344-14C>G)
c.5137-14C>G (n.5137-14C>G)
c.1840-14C>G (n.1840-14C>G)
c.5341-14C>G (n.5341-14C>G)
c.1665-14C>G
c.1852-14C>G (n.1852-14C>G)
c.*5061-14C>G (n.*5061-14C>G)
c.208-14C>G (n.208-14C>G)
c.751-14C>G (n.751-14C>G)
c.-98-941C>G (n.-98-941C>G)
n.5414-14C>G
n.5455-14C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051131G=CA2260763772BRCA1c.5275-14C= (n.5275-14C=)
c.5278-14C= (n.5278-14C=)
c.5152-14C= (n.5152-14C=)
c.5272-14C= (n.5272-14C=)
c.5200-14C= (n.5200-14C=)
c.1966-14C= (n.1966-14C=)
c.1828-14C= (n.1828-14C=)
c.4390-14C= (n.4390-14C=)
c.5155-14C= (n.5155-14C=)
c.5344-14C= (n.5344-14C=)
c.5137-14C= (n.5137-14C=)
c.1840-14C= (n.1840-14C=)
c.5341-14C= (n.5341-14C=)
c.1665-14C=
c.1852-14C= (n.1852-14C=)
c.*5061-14C= (n.*5061-14C=)
c.208-14C= (n.208-14C=)
c.751-14C= (n.751-14C=)
c.-98-941C= (n.-98-941C=)
n.5414-14C=
n.5455-14C=
17g.43051131G>TCA916081080BRCA1c.5275-14C>A (n.5275-14C>A)
c.5278-14C>A (n.5278-14C>A)
c.5152-14C>A (n.5152-14C>A)
c.5272-14C>A (n.5272-14C>A)
c.5200-14C>A (n.5200-14C>A)
c.1966-14C>A (n.1966-14C>A)
c.1828-14C>A (n.1828-14C>A)
c.4390-14C>A (n.4390-14C>A)
c.5155-14C>A (n.5155-14C>A)
c.5344-14C>A (n.5344-14C>A)
c.5137-14C>A (n.5137-14C>A)
c.1840-14C>A (n.1840-14C>A)
c.5341-14C>A (n.5341-14C>A)
c.1665-14C>A
c.1852-14C>A (n.1852-14C>A)
c.*5061-14C>A (n.*5061-14C>A)
c.208-14C>A (n.208-14C>A)
c.751-14C>A (n.751-14C>A)
c.-98-941C>A (n.-98-941C>A)
n.5414-14C>A
n.5455-14C>A
 ClinVar dbSNP
17g.43051132G>ACA772168086BRCA1c.5275-15C>T (n.5275-15C>T)
c.5278-15C>T (n.5278-15C>T)
c.5152-15C>T (n.5152-15C>T)
c.5272-15C>T (n.5272-15C>T)
c.5200-15C>T (n.5200-15C>T)
c.1966-15C>T (n.1966-15C>T)
c.1828-15C>T (n.1828-15C>T)
c.4390-15C>T (n.4390-15C>T)
c.5155-15C>T (n.5155-15C>T)
c.5344-15C>T (n.5344-15C>T)
c.5137-15C>T (n.5137-15C>T)
c.1840-15C>T (n.1840-15C>T)
c.5341-15C>T (n.5341-15C>T)
c.1665-15C>T
c.1852-15C>T (n.1852-15C>T)
c.*5061-15C>T (n.*5061-15C>T)
c.208-15C>T (n.208-15C>T)
c.751-15C>T (n.751-15C>T)
c.-98-942C>T (n.-98-942C>T)
n.5414-15C>T
n.5455-15C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43051132G>CCA916081082BRCA1c.5275-15C>G (n.5275-15C>G)
c.5278-15C>G (n.5278-15C>G)
c.5152-15C>G (n.5152-15C>G)
c.5272-15C>G (n.5272-15C>G)
c.5200-15C>G (n.5200-15C>G)
c.1966-15C>G (n.1966-15C>G)
c.1828-15C>G (n.1828-15C>G)
c.4390-15C>G (n.4390-15C>G)
c.5155-15C>G (n.5155-15C>G)
c.5344-15C>G (n.5344-15C>G)
c.5137-15C>G (n.5137-15C>G)
c.1840-15C>G (n.1840-15C>G)
c.5341-15C>G (n.5341-15C>G)
c.1665-15C>G
c.1852-15C>G (n.1852-15C>G)
c.*5061-15C>G (n.*5061-15C>G)
c.208-15C>G (n.208-15C>G)
c.751-15C>G (n.751-15C>G)
c.-98-942C>G (n.-98-942C>G)
n.5414-15C>G
n.5455-15C>G
 ClinVar dbSNP
17g.43051132G=CA2260763773BRCA1c.5275-15C= (n.5275-15C=)
c.5278-15C= (n.5278-15C=)
c.5152-15C= (n.5152-15C=)
c.5272-15C= (n.5272-15C=)
c.5200-15C= (n.5200-15C=)
c.1966-15C= (n.1966-15C=)
c.1828-15C= (n.1828-15C=)
c.4390-15C= (n.4390-15C=)
c.5155-15C= (n.5155-15C=)
c.5344-15C= (n.5344-15C=)
c.5137-15C= (n.5137-15C=)
c.1840-15C= (n.1840-15C=)
c.5341-15C= (n.5341-15C=)
c.1665-15C=
c.1852-15C= (n.1852-15C=)
c.*5061-15C= (n.*5061-15C=)
c.208-15C= (n.208-15C=)
c.751-15C= (n.751-15C=)
c.-98-942C= (n.-98-942C=)
n.5414-15C=
n.5455-15C=
17g.43051132G>TCA916081083BRCA1c.5275-15C>A (n.5275-15C>A)
c.5278-15C>A (n.5278-15C>A)
c.5152-15C>A (n.5152-15C>A)
c.5272-15C>A (n.5272-15C>A)
c.5200-15C>A (n.5200-15C>A)
c.1966-15C>A (n.1966-15C>A)
c.1828-15C>A (n.1828-15C>A)
c.4390-15C>A (n.4390-15C>A)
c.5155-15C>A (n.5155-15C>A)
c.5344-15C>A (n.5344-15C>A)
c.5137-15C>A (n.5137-15C>A)
c.1840-15C>A (n.1840-15C>A)
c.5341-15C>A (n.5341-15C>A)
c.1665-15C>A
c.1852-15C>A (n.1852-15C>A)
c.*5061-15C>A (n.*5061-15C>A)
c.208-15C>A (n.208-15C>A)
c.751-15C>A (n.751-15C>A)
c.-98-942C>A (n.-98-942C>A)
n.5414-15C>A
n.5455-15C>A
 ClinVar dbSNP
17g.43051133A=CA2260763774BRCA1c.5275-16T= (n.5275-16T=)
c.5278-16T= (n.5278-16T=)
c.5152-16T= (n.5152-16T=)
c.5272-16T= (n.5272-16T=)
c.5200-16T= (n.5200-16T=)
c.1966-16T= (n.1966-16T=)
c.1828-16T= (n.1828-16T=)
c.4390-16T= (n.4390-16T=)
c.5155-16T= (n.5155-16T=)
c.5344-16T= (n.5344-16T=)
c.5137-16T= (n.5137-16T=)
c.1840-16T= (n.1840-16T=)
c.5341-16T= (n.5341-16T=)
c.1665-16T=
c.1852-16T= (n.1852-16T=)
c.*5061-16T= (n.*5061-16T=)
c.208-16T= (n.208-16T=)
c.751-16T= (n.751-16T=)
c.-98-943T= (n.-98-943T=)
n.5414-16T=
n.5455-16T=
17g.43051133A>CCA916081085BRCA1c.5275-16T>G (n.5275-16T>G)
c.5278-16T>G (n.5278-16T>G)
c.5152-16T>G (n.5152-16T>G)
c.5272-16T>G (n.5272-16T>G)
c.5200-16T>G (n.5200-16T>G)
c.1966-16T>G (n.1966-16T>G)
c.1828-16T>G (n.1828-16T>G)
c.4390-16T>G (n.4390-16T>G)
c.5155-16T>G (n.5155-16T>G)
c.5344-16T>G (n.5344-16T>G)
c.5137-16T>G (n.5137-16T>G)
c.1840-16T>G (n.1840-16T>G)
c.5341-16T>G (n.5341-16T>G)
c.1665-16T>G
c.1852-16T>G (n.1852-16T>G)
c.*5061-16T>G (n.*5061-16T>G)
c.208-16T>G (n.208-16T>G)
c.751-16T>G (n.751-16T>G)
c.-98-943T>G (n.-98-943T>G)
n.5414-16T>G
n.5455-16T>G
 ClinVar dbSNP
17g.43051133A>GCA658798057BRCA1c.5275-16T>C (n.5275-16T>C)
c.5278-16T>C (n.5278-16T>C)
c.5152-16T>C (n.5152-16T>C)
c.5272-16T>C (n.5272-16T>C)
c.5200-16T>C (n.5200-16T>C)
c.1966-16T>C (n.1966-16T>C)
c.1828-16T>C (n.1828-16T>C)
c.4390-16T>C (n.4390-16T>C)
c.5155-16T>C (n.5155-16T>C)
c.5344-16T>C (n.5344-16T>C)
c.5137-16T>C (n.5137-16T>C)
c.1840-16T>C (n.1840-16T>C)
c.5341-16T>C (n.5341-16T>C)
c.1665-16T>C
c.1852-16T>C (n.1852-16T>C)
c.*5061-16T>C (n.*5061-16T>C)
c.208-16T>C (n.208-16T>C)
c.751-16T>C (n.751-16T>C)
c.-98-943T>C (n.-98-943T>C)
n.5414-16T>C
n.5455-16T>C
 ClinVar dbSNP
17g.43051133A>TCA916081084BRCA1c.5275-16T>A (n.5275-16T>A)
c.5278-16T>A (n.5278-16T>A)
c.5152-16T>A (n.5152-16T>A)
c.5272-16T>A (n.5272-16T>A)
c.5200-16T>A (n.5200-16T>A)
c.1966-16T>A (n.1966-16T>A)
c.1828-16T>A (n.1828-16T>A)
c.4390-16T>A (n.4390-16T>A)
c.5155-16T>A (n.5155-16T>A)
c.5344-16T>A (n.5344-16T>A)
c.5137-16T>A (n.5137-16T>A)
c.1840-16T>A (n.1840-16T>A)
c.5341-16T>A (n.5341-16T>A)
c.1665-16T>A
c.1852-16T>A (n.1852-16T>A)
c.*5061-16T>A (n.*5061-16T>A)
c.208-16T>A (n.208-16T>A)
c.751-16T>A (n.751-16T>A)
c.-98-943T>A (n.-98-943T>A)
n.5414-16T>A
n.5455-16T>A
 ClinVar dbSNP
17g.43051134A=CA2260763775BRCA1c.5275-17T= (n.5275-17T=)
c.5278-17T= (n.5278-17T=)
c.5152-17T= (n.5152-17T=)
c.5272-17T= (n.5272-17T=)
c.5200-17T= (n.5200-17T=)
c.1966-17T= (n.1966-17T=)
c.1828-17T= (n.1828-17T=)
c.4390-17T= (n.4390-17T=)
c.5155-17T= (n.5155-17T=)
c.5344-17T= (n.5344-17T=)
c.5137-17T= (n.5137-17T=)
c.1840-17T= (n.1840-17T=)
c.5341-17T= (n.5341-17T=)
c.1665-17T=
c.1852-17T= (n.1852-17T=)
c.*5061-17T= (n.*5061-17T=)
c.208-17T= (n.208-17T=)
c.751-17T= (n.751-17T=)
c.-98-944T= (n.-98-944T=)
n.5414-17T=
n.5455-17T=
17g.43051134A>CCA916081088BRCA1c.5275-17T>G (n.5275-17T>G)
c.5278-17T>G (n.5278-17T>G)
c.5152-17T>G (n.5152-17T>G)
c.5272-17T>G (n.5272-17T>G)
c.5200-17T>G (n.5200-17T>G)
c.1966-17T>G (n.1966-17T>G)
c.1828-17T>G (n.1828-17T>G)
c.4390-17T>G (n.4390-17T>G)
c.5155-17T>G (n.5155-17T>G)
c.5344-17T>G (n.5344-17T>G)
c.5137-17T>G (n.5137-17T>G)
c.1840-17T>G (n.1840-17T>G)
c.5341-17T>G (n.5341-17T>G)
c.1665-17T>G
c.1852-17T>G (n.1852-17T>G)
c.*5061-17T>G (n.*5061-17T>G)
c.208-17T>G (n.208-17T>G)
c.751-17T>G (n.751-17T>G)
c.-98-944T>G (n.-98-944T>G)
n.5414-17T>G
n.5455-17T>G
 ClinVar dbSNP
17g.43051134A>GCA916081089BRCA1c.5275-17T>C (n.5275-17T>C)
c.5278-17T>C (n.5278-17T>C)
c.5152-17T>C (n.5152-17T>C)
c.5272-17T>C (n.5272-17T>C)
c.5200-17T>C (n.5200-17T>C)
c.1966-17T>C (n.1966-17T>C)
c.1828-17T>C (n.1828-17T>C)
c.4390-17T>C (n.4390-17T>C)
c.5155-17T>C (n.5155-17T>C)
c.5344-17T>C (n.5344-17T>C)
c.5137-17T>C (n.5137-17T>C)
c.1840-17T>C (n.1840-17T>C)
c.5341-17T>C (n.5341-17T>C)
c.1665-17T>C
c.1852-17T>C (n.1852-17T>C)
c.*5061-17T>C (n.*5061-17T>C)
c.208-17T>C (n.208-17T>C)
c.751-17T>C (n.751-17T>C)
c.-98-944T>C (n.-98-944T>C)
n.5414-17T>C
n.5455-17T>C
 ClinVar dbSNP
17g.43051134A>TCA916081090BRCA1c.5275-17T>A (n.5275-17T>A)
c.5278-17T>A (n.5278-17T>A)
c.5152-17T>A (n.5152-17T>A)
c.5272-17T>A (n.5272-17T>A)
c.5200-17T>A (n.5200-17T>A)
c.1966-17T>A (n.1966-17T>A)
c.1828-17T>A (n.1828-17T>A)
c.4390-17T>A (n.4390-17T>A)
c.5155-17T>A (n.5155-17T>A)
c.5344-17T>A (n.5344-17T>A)
c.5137-17T>A (n.5137-17T>A)
c.1840-17T>A (n.1840-17T>A)
c.5341-17T>A (n.5341-17T>A)
c.1665-17T>A
c.1852-17T>A (n.1852-17T>A)
c.*5061-17T>A (n.*5061-17T>A)
c.208-17T>A (n.208-17T>A)
c.751-17T>A (n.751-17T>A)
c.-98-944T>A (n.-98-944T>A)
n.5414-17T>A
n.5455-17T>A
 ClinVar dbSNP
17g.43051140_43051141delCA2580612659BRCA1c.5275-18_5275-17del (n.5275-18_5275-17del)
c.5278-18_5278-17del (n.5278-18_5278-17del)
c.5152-18_5152-17del (n.5152-18_5152-17del)
c.5272-18_5272-17del (n.5272-18_5272-17del)
c.5200-18_5200-17del (n.5200-18_5200-17del)
c.1966-18_1966-17del (n.1966-18_1966-17del)
c.1828-18_1828-17del (n.1828-18_1828-17del)
c.4390-18_4390-17del (n.4390-18_4390-17del)
c.5155-18_5155-17del (n.5155-18_5155-17del)
c.5344-18_5344-17del (n.5344-18_5344-17del)
c.5137-18_5137-17del (n.5137-18_5137-17del)
c.1840-18_1840-17del (n.1840-18_1840-17del)
c.5341-18_5341-17del (n.5341-18_5341-17del)
c.1665-18_1665-17del
c.1852-18_1852-17del (n.1852-18_1852-17del)
c.*5061-18_*5061-17del (n.*5061-18_*5061-17del)
c.208-18_208-17del (n.208-18_208-17del)
c.751-18_751-17del (n.751-18_751-17del)
c.-98-945_-98-944del (n.-98-945_-98-944del)
n.5414-18_5414-17del
n.5455-18_5455-17del
 ClinVar dbSNP
17g.43051135G>ACA916081093BRCA1c.5275-18C>T (n.5275-18C>T)
c.5278-18C>T (n.5278-18C>T)
c.5152-18C>T (n.5152-18C>T)
c.5272-18C>T (n.5272-18C>T)
c.5200-18C>T (n.5200-18C>T)
c.1966-18C>T (n.1966-18C>T)
c.1828-18C>T (n.1828-18C>T)
c.4390-18C>T (n.4390-18C>T)
c.5155-18C>T (n.5155-18C>T)
c.5344-18C>T (n.5344-18C>T)
c.5137-18C>T (n.5137-18C>T)
c.1840-18C>T (n.1840-18C>T)
c.5341-18C>T (n.5341-18C>T)
c.1665-18C>T
c.1852-18C>T (n.1852-18C>T)
c.*5061-18C>T (n.*5061-18C>T)
c.208-18C>T (n.208-18C>T)
c.751-18C>T (n.751-18C>T)
c.-98-945C>T (n.-98-945C>T)
n.5414-18C>T
n.5455-18C>T
 ClinVar dbSNP
17g.43051135G>CCA658684090BRCA1c.5275-18C>G (n.5275-18C>G)
c.5278-18C>G (n.5278-18C>G)
c.5152-18C>G (n.5152-18C>G)
c.5272-18C>G (n.5272-18C>G)
c.5200-18C>G (n.5200-18C>G)
c.1966-18C>G (n.1966-18C>G)
c.1828-18C>G (n.1828-18C>G)
c.4390-18C>G (n.4390-18C>G)
c.5155-18C>G (n.5155-18C>G)
c.5344-18C>G (n.5344-18C>G)
c.5137-18C>G (n.5137-18C>G)
c.1840-18C>G (n.1840-18C>G)
c.5341-18C>G (n.5341-18C>G)
c.1665-18C>G
c.1852-18C>G (n.1852-18C>G)
c.*5061-18C>G (n.*5061-18C>G)
c.208-18C>G (n.208-18C>G)
c.751-18C>G (n.751-18C>G)
c.-98-945C>G (n.-98-945C>G)
n.5414-18C>G
n.5455-18C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43051135G=CA2260763776BRCA1c.5275-18C= (n.5275-18C=)
c.5278-18C= (n.5278-18C=)
c.5152-18C= (n.5152-18C=)
c.5272-18C= (n.5272-18C=)
c.5200-18C= (n.5200-18C=)
c.1966-18C= (n.1966-18C=)
c.1828-18C= (n.1828-18C=)
c.4390-18C= (n.4390-18C=)
c.5155-18C= (n.5155-18C=)
c.5344-18C= (n.5344-18C=)
c.5137-18C= (n.5137-18C=)
c.1840-18C= (n.1840-18C=)
c.5341-18C= (n.5341-18C=)
c.1665-18C=
c.1852-18C= (n.1852-18C=)
c.*5061-18C= (n.*5061-18C=)
c.208-18C= (n.208-18C=)
c.751-18C= (n.751-18C=)
c.-98-945C= (n.-98-945C=)
n.5414-18C=
n.5455-18C=
17g.43051135G>TCA916081091BRCA1c.5275-18C>A (n.5275-18C>A)
c.5278-18C>A (n.5278-18C>A)
c.5152-18C>A (n.5152-18C>A)
c.5272-18C>A (n.5272-18C>A)
c.5200-18C>A (n.5200-18C>A)
c.1966-18C>A (n.1966-18C>A)
c.1828-18C>A (n.1828-18C>A)
c.4390-18C>A (n.4390-18C>A)
c.5155-18C>A (n.5155-18C>A)
c.5344-18C>A (n.5344-18C>A)
c.5137-18C>A (n.5137-18C>A)
c.1840-18C>A (n.1840-18C>A)
c.5341-18C>A (n.5341-18C>A)
c.1665-18C>A
c.1852-18C>A (n.1852-18C>A)
c.*5061-18C>A (n.*5061-18C>A)
c.208-18C>A (n.208-18C>A)
c.751-18C>A (n.751-18C>A)
c.-98-945C>A (n.-98-945C>A)
n.5414-18C>A
n.5455-18C>A
 ClinVar dbSNP
17g.43051141_43051160delCA2733908563BRCA1c.5275-37_5275-18del (n.5275-37_5275-18del)
c.5278-37_5278-18del (n.5278-37_5278-18del)
c.5152-37_5152-18del (n.5152-37_5152-18del)
c.5272-37_5272-18del (n.5272-37_5272-18del)
c.5200-37_5200-18del (n.5200-37_5200-18del)
c.1966-37_1966-18del (n.1966-37_1966-18del)
c.1828-37_1828-18del (n.1828-37_1828-18del)
c.4390-37_4390-18del (n.4390-37_4390-18del)
c.5155-37_5155-18del (n.5155-37_5155-18del)
c.5344-37_5344-18del (n.5344-37_5344-18del)
c.5137-37_5137-18del (n.5137-37_5137-18del)
c.1840-37_1840-18del (n.1840-37_1840-18del)
c.5341-37_5341-18del (n.5341-37_5341-18del)
c.1665-37_1665-18del
c.1852-37_1852-18del (n.1852-37_1852-18del)
c.*5061-37_*5061-18del (n.*5061-37_*5061-18del)
c.208-37_208-18del (n.208-37_208-18del)
c.751-37_751-18del (n.751-37_751-18del)
c.-98-964_-98-945del (n.-98-964_-98-945del)
n.5414-37_5414-18del
n.5455-37_5455-18del
 dbSNP
17g.43051136A=CA2260763777BRCA1c.5275-19T= (n.5275-19T=)
c.5278-19T= (n.5278-19T=)
c.5152-19T= (n.5152-19T=)
c.5272-19T= (n.5272-19T=)
c.5200-19T= (n.5200-19T=)
c.1966-19T= (n.1966-19T=)
c.1828-19T= (n.1828-19T=)
c.4390-19T= (n.4390-19T=)
c.5155-19T= (n.5155-19T=)
c.5344-19T= (n.5344-19T=)
c.5137-19T= (n.5137-19T=)
c.1840-19T= (n.1840-19T=)
c.5341-19T= (n.5341-19T=)
c.1665-19T=
c.1852-19T= (n.1852-19T=)
c.*5061-19T= (n.*5061-19T=)
c.208-19T= (n.208-19T=)
c.751-19T= (n.751-19T=)
c.-98-946T= (n.-98-946T=)
n.5414-19T=
n.5455-19T=
17g.43051136A>CCA916081095BRCA1c.5275-19T>G (n.5275-19T>G)
c.5278-19T>G (n.5278-19T>G)
c.5152-19T>G (n.5152-19T>G)
c.5272-19T>G (n.5272-19T>G)
c.5200-19T>G (n.5200-19T>G)
c.1966-19T>G (n.1966-19T>G)
c.1828-19T>G (n.1828-19T>G)
c.4390-19T>G (n.4390-19T>G)
c.5155-19T>G (n.5155-19T>G)
c.5344-19T>G (n.5344-19T>G)
c.5137-19T>G (n.5137-19T>G)
c.1840-19T>G (n.1840-19T>G)
c.5341-19T>G (n.5341-19T>G)
c.1665-19T>G
c.1852-19T>G (n.1852-19T>G)
c.*5061-19T>G (n.*5061-19T>G)
c.208-19T>G (n.208-19T>G)
c.751-19T>G (n.751-19T>G)
c.-98-946T>G (n.-98-946T>G)
n.5414-19T>G
n.5455-19T>G
 ClinVar dbSNP
17g.43051136A>GCA916081097BRCA1c.5275-19T>C (n.5275-19T>C)
c.5278-19T>C (n.5278-19T>C)
c.5152-19T>C (n.5152-19T>C)
c.5272-19T>C (n.5272-19T>C)
c.5200-19T>C (n.5200-19T>C)
c.1966-19T>C (n.1966-19T>C)
c.1828-19T>C (n.1828-19T>C)
c.4390-19T>C (n.4390-19T>C)
c.5155-19T>C (n.5155-19T>C)
c.5344-19T>C (n.5344-19T>C)
c.5137-19T>C (n.5137-19T>C)
c.1840-19T>C (n.1840-19T>C)
c.5341-19T>C (n.5341-19T>C)
c.1665-19T>C
c.1852-19T>C (n.1852-19T>C)
c.*5061-19T>C (n.*5061-19T>C)
c.208-19T>C (n.208-19T>C)
c.751-19T>C (n.751-19T>C)
c.-98-946T>C (n.-98-946T>C)
n.5414-19T>C
n.5455-19T>C
 ClinVar dbSNP
17g.43051136A>TCA915950046BRCA1c.5275-19T>A (n.5275-19T>A)
c.5278-19T>A (n.5278-19T>A)
c.5152-19T>A (n.5152-19T>A)
c.5272-19T>A (n.5272-19T>A)
c.5200-19T>A (n.5200-19T>A)
c.1966-19T>A (n.1966-19T>A)
c.1828-19T>A (n.1828-19T>A)
c.4390-19T>A (n.4390-19T>A)
c.5155-19T>A (n.5155-19T>A)
c.5344-19T>A (n.5344-19T>A)
c.5137-19T>A (n.5137-19T>A)
c.1840-19T>A (n.1840-19T>A)
c.5341-19T>A (n.5341-19T>A)
c.1665-19T>A
c.1852-19T>A (n.1852-19T>A)
c.*5061-19T>A (n.*5061-19T>A)
c.208-19T>A (n.208-19T>A)
c.751-19T>A (n.751-19T>A)
c.-98-946T>A (n.-98-946T>A)
n.5414-19T>A
n.5455-19T>A
 ClinVar dbSNP gnomAD v4
17g.43051137G>ACA054369BRCA1c.5275-20C>T (n.5275-20C>T)
c.5278-20C>T (n.5278-20C>T)
c.5152-20C>T (n.5152-20C>T)
c.5272-20C>T (n.5272-20C>T)
c.5200-20C>T (n.5200-20C>T)
c.1966-20C>T (n.1966-20C>T)
c.1828-20C>T (n.1828-20C>T)
c.4390-20C>T (n.4390-20C>T)
c.5155-20C>T (n.5155-20C>T)
c.5344-20C>T (n.5344-20C>T)
c.5137-20C>T (n.5137-20C>T)
c.1840-20C>T (n.1840-20C>T)
c.5341-20C>T (n.5341-20C>T)
c.1665-20C>T
c.1852-20C>T (n.1852-20C>T)
c.*5061-20C>T (n.*5061-20C>T)
c.208-20C>T (n.208-20C>T)
c.751-20C>T (n.751-20C>T)
c.-98-947C>T (n.-98-947C>T)
n.5414-20C>T
n.5455-20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051137G>CCA916081105BRCA1c.5275-20C>G (n.5275-20C>G)
c.5278-20C>G (n.5278-20C>G)
c.5152-20C>G (n.5152-20C>G)
c.5272-20C>G (n.5272-20C>G)
c.5200-20C>G (n.5200-20C>G)
c.1966-20C>G (n.1966-20C>G)
c.1828-20C>G (n.1828-20C>G)
c.4390-20C>G (n.4390-20C>G)
c.5155-20C>G (n.5155-20C>G)
c.5344-20C>G (n.5344-20C>G)
c.5137-20C>G (n.5137-20C>G)
c.1840-20C>G (n.1840-20C>G)
c.5341-20C>G (n.5341-20C>G)
c.1665-20C>G
c.1852-20C>G (n.1852-20C>G)
c.*5061-20C>G (n.*5061-20C>G)
c.208-20C>G (n.208-20C>G)
c.751-20C>G (n.751-20C>G)
c.-98-947C>G (n.-98-947C>G)
n.5414-20C>G
n.5455-20C>G
 ClinVar dbSNP
17g.43051137G=CA2260763778BRCA1c.5275-20C= (n.5275-20C=)
c.5278-20C= (n.5278-20C=)
c.5152-20C= (n.5152-20C=)
c.5272-20C= (n.5272-20C=)
c.5200-20C= (n.5200-20C=)
c.1966-20C= (n.1966-20C=)
c.1828-20C= (n.1828-20C=)
c.4390-20C= (n.4390-20C=)
c.5155-20C= (n.5155-20C=)
c.5344-20C= (n.5344-20C=)
c.5137-20C= (n.5137-20C=)
c.1840-20C= (n.1840-20C=)
c.5341-20C= (n.5341-20C=)
c.1665-20C=
c.1852-20C= (n.1852-20C=)
c.*5061-20C= (n.*5061-20C=)
c.208-20C= (n.208-20C=)
c.751-20C= (n.751-20C=)
c.-98-947C= (n.-98-947C=)
n.5414-20C=
n.5455-20C=
17g.43051137G>TCA916081106BRCA1c.5275-20C>A (n.5275-20C>A)
c.5278-20C>A (n.5278-20C>A)
c.5152-20C>A (n.5152-20C>A)
c.5272-20C>A (n.5272-20C>A)
c.5200-20C>A (n.5200-20C>A)
c.1966-20C>A (n.1966-20C>A)
c.1828-20C>A (n.1828-20C>A)
c.4390-20C>A (n.4390-20C>A)
c.5155-20C>A (n.5155-20C>A)
c.5344-20C>A (n.5344-20C>A)
c.5137-20C>A (n.5137-20C>A)
c.1840-20C>A (n.1840-20C>A)
c.5341-20C>A (n.5341-20C>A)
c.1665-20C>A
c.1852-20C>A (n.1852-20C>A)
c.*5061-20C>A (n.*5061-20C>A)
c.208-20C>A (n.208-20C>A)
c.751-20C>A (n.751-20C>A)
c.-98-947C>A (n.-98-947C>A)
n.5414-20C>A
n.5455-20C>A
 ClinVar dbSNP
17g.43051138A=CA2260763779BRCA1c.5275-21T= (n.5275-21T=)
c.5278-21T= (n.5278-21T=)
c.5152-21T= (n.5152-21T=)
c.5272-21T= (n.5272-21T=)
c.5200-21T= (n.5200-21T=)
c.1966-21T= (n.1966-21T=)
c.1828-21T= (n.1828-21T=)
c.4390-21T= (n.4390-21T=)
c.5155-21T= (n.5155-21T=)
c.5344-21T= (n.5344-21T=)
c.5137-21T= (n.5137-21T=)
c.1840-21T= (n.1840-21T=)
c.5341-21T= (n.5341-21T=)
c.1665-21T=
c.1852-21T= (n.1852-21T=)
c.*5061-21T= (n.*5061-21T=)
c.208-21T= (n.208-21T=)
c.751-21T= (n.751-21T=)
c.-98-948T= (n.-98-948T=)
n.5414-21T=
n.5455-21T=
17g.43051138A>CCA916081108BRCA1c.5275-21T>G (n.5275-21T>G)
c.5278-21T>G (n.5278-21T>G)
c.5152-21T>G (n.5152-21T>G)
c.5272-21T>G (n.5272-21T>G)
c.5200-21T>G (n.5200-21T>G)
c.1966-21T>G (n.1966-21T>G)
c.1828-21T>G (n.1828-21T>G)
c.4390-21T>G (n.4390-21T>G)
c.5155-21T>G (n.5155-21T>G)
c.5344-21T>G (n.5344-21T>G)
c.5137-21T>G (n.5137-21T>G)
c.1840-21T>G (n.1840-21T>G)
c.5341-21T>G (n.5341-21T>G)
c.1665-21T>G
c.1852-21T>G (n.1852-21T>G)
c.*5061-21T>G (n.*5061-21T>G)
c.208-21T>G (n.208-21T>G)
c.751-21T>G (n.751-21T>G)
c.-98-948T>G (n.-98-948T>G)
n.5414-21T>G
n.5455-21T>G
 ClinVar dbSNP
17g.43051138A>GCA916081107BRCA1c.5275-21T>C (n.5275-21T>C)
c.5278-21T>C (n.5278-21T>C)
c.5152-21T>C (n.5152-21T>C)
c.5272-21T>C (n.5272-21T>C)
c.5200-21T>C (n.5200-21T>C)
c.1966-21T>C (n.1966-21T>C)
c.1828-21T>C (n.1828-21T>C)
c.4390-21T>C (n.4390-21T>C)
c.5155-21T>C (n.5155-21T>C)
c.5344-21T>C (n.5344-21T>C)
c.5137-21T>C (n.5137-21T>C)
c.1840-21T>C (n.1840-21T>C)
c.5341-21T>C (n.5341-21T>C)
c.1665-21T>C
c.1852-21T>C (n.1852-21T>C)
c.*5061-21T>C (n.*5061-21T>C)
c.208-21T>C (n.208-21T>C)
c.751-21T>C (n.751-21T>C)
c.-98-948T>C (n.-98-948T>C)
n.5414-21T>C
n.5455-21T>C
 ClinVar dbSNP
17g.43051138A>TCA656358829BRCA1c.5275-21T>A (n.5275-21T>A)
c.5278-21T>A (n.5278-21T>A)
c.5152-21T>A (n.5152-21T>A)
c.5272-21T>A (n.5272-21T>A)
c.5200-21T>A (n.5200-21T>A)
c.1966-21T>A (n.1966-21T>A)
c.1828-21T>A (n.1828-21T>A)
c.4390-21T>A (n.4390-21T>A)
c.5155-21T>A (n.5155-21T>A)
c.5344-21T>A (n.5344-21T>A)
c.5137-21T>A (n.5137-21T>A)
c.1840-21T>A (n.1840-21T>A)
c.5341-21T>A (n.5341-21T>A)
c.1665-21T>A
c.1852-21T>A (n.1852-21T>A)
c.*5061-21T>A (n.*5061-21T>A)
c.208-21T>A (n.208-21T>A)
c.751-21T>A (n.751-21T>A)
c.-98-948T>A (n.-98-948T>A)
n.5414-21T>A
n.5455-21T>A
 ClinVar dbSNP COSMIC
17g.43051139G>ACA054382BRCA1c.5275-22C>T (n.5275-22C>T)
c.5278-22C>T (n.5278-22C>T)
c.5152-22C>T (n.5152-22C>T)
c.5272-22C>T (n.5272-22C>T)
c.5200-22C>T (n.5200-22C>T)
c.1966-22C>T (n.1966-22C>T)
c.1828-22C>T (n.1828-22C>T)
c.4390-22C>T (n.4390-22C>T)
c.5155-22C>T (n.5155-22C>T)
c.5344-22C>T (n.5344-22C>T)
c.5137-22C>T (n.5137-22C>T)
c.1840-22C>T (n.1840-22C>T)
c.5341-22C>T (n.5341-22C>T)
c.1665-22C>T
c.1852-22C>T (n.1852-22C>T)
c.*5061-22C>T (n.*5061-22C>T)
c.208-22C>T (n.208-22C>T)
c.751-22C>T (n.751-22C>T)
c.-98-949C>T (n.-98-949C>T)
n.5414-22C>T
n.5455-22C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051139G>CCA054376BRCA1c.5275-22C>G (n.5275-22C>G)
c.5278-22C>G (n.5278-22C>G)
c.5152-22C>G (n.5152-22C>G)
c.5272-22C>G (n.5272-22C>G)
c.5200-22C>G (n.5200-22C>G)
c.1966-22C>G (n.1966-22C>G)
c.1828-22C>G (n.1828-22C>G)
c.4390-22C>G (n.4390-22C>G)
c.5155-22C>G (n.5155-22C>G)
c.5344-22C>G (n.5344-22C>G)
c.5137-22C>G (n.5137-22C>G)
c.1840-22C>G (n.1840-22C>G)
c.5341-22C>G (n.5341-22C>G)
c.1665-22C>G
c.1852-22C>G (n.1852-22C>G)
c.*5061-22C>G (n.*5061-22C>G)
c.208-22C>G (n.208-22C>G)
c.751-22C>G (n.751-22C>G)
c.-98-949C>G (n.-98-949C>G)
n.5414-22C>G
n.5455-22C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43051139G=CA2260763780BRCA1c.5275-22C= (n.5275-22C=)
c.5278-22C= (n.5278-22C=)
c.5152-22C= (n.5152-22C=)
c.5272-22C= (n.5272-22C=)
c.5200-22C= (n.5200-22C=)
c.1966-22C= (n.1966-22C=)
c.1828-22C= (n.1828-22C=)
c.4390-22C= (n.4390-22C=)
c.5155-22C= (n.5155-22C=)
c.5344-22C= (n.5344-22C=)
c.5137-22C= (n.5137-22C=)
c.1840-22C= (n.1840-22C=)
c.5341-22C= (n.5341-22C=)
c.1665-22C=
c.1852-22C= (n.1852-22C=)
c.*5061-22C= (n.*5061-22C=)
c.208-22C= (n.208-22C=)
c.751-22C= (n.751-22C=)
c.-98-949C= (n.-98-949C=)
n.5414-22C=
n.5455-22C=
17g.43051139G>TCA916081109BRCA1c.5275-22C>A (n.5275-22C>A)
c.5278-22C>A (n.5278-22C>A)
c.5152-22C>A (n.5152-22C>A)
c.5272-22C>A (n.5272-22C>A)
c.5200-22C>A (n.5200-22C>A)
c.1966-22C>A (n.1966-22C>A)
c.1828-22C>A (n.1828-22C>A)
c.4390-22C>A (n.4390-22C>A)
c.5155-22C>A (n.5155-22C>A)
c.5344-22C>A (n.5344-22C>A)
c.5137-22C>A (n.5137-22C>A)
c.1840-22C>A (n.1840-22C>A)
c.5341-22C>A (n.5341-22C>A)
c.1665-22C>A
c.1852-22C>A (n.1852-22C>A)
c.*5061-22C>A (n.*5061-22C>A)
c.208-22C>A (n.208-22C>A)
c.751-22C>A (n.751-22C>A)
c.-98-949C>A (n.-98-949C>A)
n.5414-22C>A
n.5455-22C>A
 ClinVar dbSNP
17g.43051140A>GCA2576282043BRCA1c.5275-23T>C (n.5275-23T>C)
c.5278-23T>C (n.5278-23T>C)
c.5152-23T>C (n.5152-23T>C)
c.5272-23T>C (n.5272-23T>C)
c.5200-23T>C (n.5200-23T>C)
c.1966-23T>C (n.1966-23T>C)
c.1828-23T>C (n.1828-23T>C)
c.4390-23T>C (n.4390-23T>C)
c.5155-23T>C (n.5155-23T>C)
c.5344-23T>C (n.5344-23T>C)
c.5137-23T>C (n.5137-23T>C)
c.1840-23T>C (n.1840-23T>C)
c.5341-23T>C (n.5341-23T>C)
c.1665-23T>C
c.1852-23T>C (n.1852-23T>C)
c.*5061-23T>C (n.*5061-23T>C)
c.208-23T>C (n.208-23T>C)
c.751-23T>C (n.751-23T>C)
c.-98-950T>C (n.-98-950T>C)
n.5414-23T>C
n.5455-23T>C
 dbSNP
17g.43051141G>ACA2733908566BRCA1c.5275-24C>T (n.5275-24C>T)
c.5278-24C>T (n.5278-24C>T)
c.5152-24C>T (n.5152-24C>T)
c.5272-24C>T (n.5272-24C>T)
c.5200-24C>T (n.5200-24C>T)
c.1966-24C>T (n.1966-24C>T)
c.1828-24C>T (n.1828-24C>T)
c.4390-24C>T (n.4390-24C>T)
c.5155-24C>T (n.5155-24C>T)
c.5344-24C>T (n.5344-24C>T)
c.5137-24C>T (n.5137-24C>T)
c.1840-24C>T (n.1840-24C>T)
c.5341-24C>T (n.5341-24C>T)
c.1665-24C>T
c.1852-24C>T (n.1852-24C>T)
c.*5061-24C>T (n.*5061-24C>T)
c.208-24C>T (n.208-24C>T)
c.751-24C>T (n.751-24C>T)
c.-98-951C>T (n.-98-951C>T)
n.5414-24C>T
n.5455-24C>T
 dbSNP
17g.43051142G>ACA2260763782BRCA1c.5275-25C>T (n.5275-25C>T)
c.5278-25C>T (n.5278-25C>T)
c.5152-25C>T (n.5152-25C>T)
c.5272-25C>T (n.5272-25C>T)
c.5200-25C>T (n.5200-25C>T)
c.1966-25C>T (n.1966-25C>T)
c.1828-25C>T (n.1828-25C>T)
c.4390-25C>T (n.4390-25C>T)
c.5155-25C>T (n.5155-25C>T)
c.5344-25C>T (n.5344-25C>T)
c.5137-25C>T (n.5137-25C>T)
c.1840-25C>T (n.1840-25C>T)
c.5341-25C>T (n.5341-25C>T)
c.1665-25C>T
c.1852-25C>T (n.1852-25C>T)
c.*5061-25C>T (n.*5061-25C>T)
c.208-25C>T (n.208-25C>T)
c.751-25C>T (n.751-25C>T)
c.-98-952C>T (n.-98-952C>T)
n.5414-25C>T
n.5455-25C>T
 dbSNP gnomAD v4
17g.43051142G=CA2260763781BRCA1c.5275-25C= (n.5275-25C=)
c.5278-25C= (n.5278-25C=)
c.5152-25C= (n.5152-25C=)
c.5272-25C= (n.5272-25C=)
c.5200-25C= (n.5200-25C=)
c.1966-25C= (n.1966-25C=)
c.1828-25C= (n.1828-25C=)
c.4390-25C= (n.4390-25C=)
c.5155-25C= (n.5155-25C=)
c.5344-25C= (n.5344-25C=)
c.5137-25C= (n.5137-25C=)
c.1840-25C= (n.1840-25C=)
c.5341-25C= (n.5341-25C=)
c.1665-25C=
c.1852-25C= (n.1852-25C=)
c.*5061-25C= (n.*5061-25C=)
c.208-25C= (n.208-25C=)
c.751-25C= (n.751-25C=)
c.-98-952C= (n.-98-952C=)
n.5414-25C=
n.5455-25C=
17g.43051143G>ACA2733908589BRCA1c.5275-26C>T (n.5275-26C>T)
c.5278-26C>T (n.5278-26C>T)
c.5152-26C>T (n.5152-26C>T)
c.5272-26C>T (n.5272-26C>T)
c.5200-26C>T (n.5200-26C>T)
c.1966-26C>T (n.1966-26C>T)
c.1828-26C>T (n.1828-26C>T)
c.4390-26C>T (n.4390-26C>T)
c.5155-26C>T (n.5155-26C>T)
c.5344-26C>T (n.5344-26C>T)
c.5137-26C>T (n.5137-26C>T)
c.1840-26C>T (n.1840-26C>T)
c.5341-26C>T (n.5341-26C>T)
c.1665-26C>T
c.1852-26C>T (n.1852-26C>T)
c.*5061-26C>T (n.*5061-26C>T)
c.208-26C>T (n.208-26C>T)
c.751-26C>T (n.751-26C>T)
c.-98-953C>T (n.-98-953C>T)
n.5414-26C>T
n.5455-26C>T
 dbSNP
17g.43051143G>CCA2638061056BRCA1c.5275-26C>G (n.5275-26C>G)
c.5278-26C>G (n.5278-26C>G)
c.5152-26C>G (n.5152-26C>G)
c.5272-26C>G (n.5272-26C>G)
c.5200-26C>G (n.5200-26C>G)
c.1966-26C>G (n.1966-26C>G)
c.1828-26C>G (n.1828-26C>G)
c.4390-26C>G (n.4390-26C>G)
c.5155-26C>G (n.5155-26C>G)
c.5344-26C>G (n.5344-26C>G)
c.5137-26C>G (n.5137-26C>G)
c.1840-26C>G (n.1840-26C>G)
c.5341-26C>G (n.5341-26C>G)
c.1665-26C>G
c.1852-26C>G (n.1852-26C>G)
c.*5061-26C>G (n.*5061-26C>G)
c.208-26C>G (n.208-26C>G)
c.751-26C>G (n.751-26C>G)
c.-98-953C>G (n.-98-953C>G)
n.5414-26C>G
n.5455-26C>G
 dbSNP gnomAD v4
17g.43051143G=CA2260763783BRCA1c.5275-26C= (n.5275-26C=)
c.5278-26C= (n.5278-26C=)
c.5152-26C= (n.5152-26C=)
c.5272-26C= (n.5272-26C=)
c.5200-26C= (n.5200-26C=)
c.1966-26C= (n.1966-26C=)
c.1828-26C= (n.1828-26C=)
c.4390-26C= (n.4390-26C=)
c.5155-26C= (n.5155-26C=)
c.5344-26C= (n.5344-26C=)
c.5137-26C= (n.5137-26C=)
c.1840-26C= (n.1840-26C=)
c.5341-26C= (n.5341-26C=)
c.1665-26C=
c.1852-26C= (n.1852-26C=)
c.*5061-26C= (n.*5061-26C=)
c.208-26C= (n.208-26C=)
c.751-26C= (n.751-26C=)
c.-98-953C= (n.-98-953C=)
n.5414-26C=
n.5455-26C=
17g.43051143G>TCA2576282044BRCA1c.5275-26C>A (n.5275-26C>A)
c.5278-26C>A (n.5278-26C>A)
c.5152-26C>A (n.5152-26C>A)
c.5272-26C>A (n.5272-26C>A)
c.5200-26C>A (n.5200-26C>A)
c.1966-26C>A (n.1966-26C>A)
c.1828-26C>A (n.1828-26C>A)
c.4390-26C>A (n.4390-26C>A)
c.5155-26C>A (n.5155-26C>A)
c.5344-26C>A (n.5344-26C>A)
c.5137-26C>A (n.5137-26C>A)
c.1840-26C>A (n.1840-26C>A)
c.5341-26C>A (n.5341-26C>A)
c.1665-26C>A
c.1852-26C>A (n.1852-26C>A)
c.*5061-26C>A (n.*5061-26C>A)
c.208-26C>A (n.208-26C>A)
c.751-26C>A (n.751-26C>A)
c.-98-953C>A (n.-98-953C>A)
n.5414-26C>A
n.5455-26C>A
17g.43051143_43051144insTACA2260763785BRCA1c.5275-27_5275-26insTA (n.5275-27_5275-26insTA)
c.5278-27_5278-26insTA (n.5278-27_5278-26insTA)
c.5152-27_5152-26insTA (n.5152-27_5152-26insTA)
c.5272-27_5272-26insTA (n.5272-27_5272-26insTA)
c.5200-27_5200-26insTA (n.5200-27_5200-26insTA)
c.1966-27_1966-26insTA (n.1966-27_1966-26insTA)
c.1828-27_1828-26insTA (n.1828-27_1828-26insTA)
c.4390-27_4390-26insTA (n.4390-27_4390-26insTA)
c.5155-27_5155-26insTA (n.5155-27_5155-26insTA)
c.5344-27_5344-26insTA (n.5344-27_5344-26insTA)
c.5137-27_5137-26insTA (n.5137-27_5137-26insTA)
c.1840-27_1840-26insTA (n.1840-27_1840-26insTA)
c.5341-27_5341-26insTA (n.5341-27_5341-26insTA)
c.1665-27_1665-26insTA
c.1852-27_1852-26insTA (n.1852-27_1852-26insTA)
c.*5061-27_*5061-26insTA (n.*5061-27_*5061-26insTA)
c.208-27_208-26insTA (n.208-27_208-26insTA)
c.751-27_751-26insTA (n.751-27_751-26insTA)
c.-98-954_-98-953insTA (n.-98-954_-98-953insTA)
n.5414-27_5414-26insTA
n.5455-27_5455-26insTA
 dbSNP
17g.43051144A=CA2260763784BRCA1c.5275-27T= (n.5275-27T=)
c.5278-27T= (n.5278-27T=)
c.5152-27T= (n.5152-27T=)
c.5272-27T= (n.5272-27T=)
c.5200-27T= (n.5200-27T=)
c.1966-27T= (n.1966-27T=)
c.1828-27T= (n.1828-27T=)
c.4390-27T= (n.4390-27T=)
c.5155-27T= (n.5155-27T=)
c.5344-27T= (n.5344-27T=)
c.5137-27T= (n.5137-27T=)
c.1840-27T= (n.1840-27T=)
c.5341-27T= (n.5341-27T=)
c.1665-27T=
c.1852-27T= (n.1852-27T=)
c.*5061-27T= (n.*5061-27T=)
c.208-27T= (n.208-27T=)
c.751-27T= (n.751-27T=)
c.-98-954T= (n.-98-954T=)
n.5414-27T=
n.5455-27T=
17g.43051144A>CCA626077301BRCA1c.5275-27T>G (n.5275-27T>G)
c.5278-27T>G (n.5278-27T>G)
c.5152-27T>G (n.5152-27T>G)
c.5272-27T>G (n.5272-27T>G)
c.5200-27T>G (n.5200-27T>G)
c.1966-27T>G (n.1966-27T>G)
c.1828-27T>G (n.1828-27T>G)
c.4390-27T>G (n.4390-27T>G)
c.5155-27T>G (n.5155-27T>G)
c.5344-27T>G (n.5344-27T>G)
c.5137-27T>G (n.5137-27T>G)
c.1840-27T>G (n.1840-27T>G)
c.5341-27T>G (n.5341-27T>G)
c.1665-27T>G
c.1852-27T>G (n.1852-27T>G)
c.*5061-27T>G (n.*5061-27T>G)
c.208-27T>G (n.208-27T>G)
c.751-27T>G (n.751-27T>G)
c.-98-954T>G (n.-98-954T>G)
n.5414-27T>G
n.5455-27T>G
 dbSNP gnomAD v2 gnomAD v4
17g.43051145C>GCA2638061057BRCA1c.5275-28G>C (n.5275-28G>C)
c.5278-28G>C (n.5278-28G>C)
c.5152-28G>C (n.5152-28G>C)
c.5272-28G>C (n.5272-28G>C)
c.5200-28G>C (n.5200-28G>C)
c.1966-28G>C (n.1966-28G>C)
c.1828-28G>C (n.1828-28G>C)
c.4390-28G>C (n.4390-28G>C)
c.5155-28G>C (n.5155-28G>C)
c.5344-28G>C (n.5344-28G>C)
c.5137-28G>C (n.5137-28G>C)
c.1840-28G>C (n.1840-28G>C)
c.5341-28G>C (n.5341-28G>C)
c.1665-28G>C
c.1852-28G>C (n.1852-28G>C)
c.*5061-28G>C (n.*5061-28G>C)
c.208-28G>C (n.208-28G>C)
c.751-28G>C (n.751-28G>C)
c.-98-955G>C (n.-98-955G>C)
n.5414-28G>C
n.5455-28G>C
 dbSNP gnomAD v4
17g.43051145C>TCA2638061058BRCA1c.5275-28G>A (n.5275-28G>A)
c.5278-28G>A (n.5278-28G>A)
c.5152-28G>A (n.5152-28G>A)
c.5272-28G>A (n.5272-28G>A)
c.5200-28G>A (n.5200-28G>A)
c.1966-28G>A (n.1966-28G>A)
c.1828-28G>A (n.1828-28G>A)
c.4390-28G>A (n.4390-28G>A)
c.5155-28G>A (n.5155-28G>A)
c.5344-28G>A (n.5344-28G>A)
c.5137-28G>A (n.5137-28G>A)
c.1840-28G>A (n.1840-28G>A)
c.5341-28G>A (n.5341-28G>A)
c.1665-28G>A
c.1852-28G>A (n.1852-28G>A)
c.*5061-28G>A (n.*5061-28G>A)
c.208-28G>A (n.208-28G>A)
c.751-28G>A (n.751-28G>A)
c.-98-955G>A (n.-98-955G>A)
n.5414-28G>A
n.5455-28G>A
 dbSNP gnomAD v4
17g.43051146A=CA2260763786BRCA1c.5275-29T= (n.5275-29T=)
c.5278-29T= (n.5278-29T=)
c.5152-29T= (n.5152-29T=)
c.5272-29T= (n.5272-29T=)
c.5200-29T= (n.5200-29T=)
c.1966-29T= (n.1966-29T=)
c.1828-29T= (n.1828-29T=)
c.4390-29T= (n.4390-29T=)
c.5155-29T= (n.5155-29T=)
c.5344-29T= (n.5344-29T=)
c.5137-29T= (n.5137-29T=)
c.1840-29T= (n.1840-29T=)
c.5341-29T= (n.5341-29T=)
c.1665-29T=
c.1852-29T= (n.1852-29T=)
c.*5061-29T= (n.*5061-29T=)
c.208-29T= (n.208-29T=)
c.751-29T= (n.751-29T=)
c.-98-956T= (n.-98-956T=)
n.5414-29T=
n.5455-29T=
17g.43051146A>CCA626077307BRCA1c.5275-29T>G (n.5275-29T>G)
c.5278-29T>G (n.5278-29T>G)
c.5152-29T>G (n.5152-29T>G)
c.5272-29T>G (n.5272-29T>G)
c.5200-29T>G (n.5200-29T>G)
c.1966-29T>G (n.1966-29T>G)
c.1828-29T>G (n.1828-29T>G)
c.4390-29T>G (n.4390-29T>G)
c.5155-29T>G (n.5155-29T>G)
c.5344-29T>G (n.5344-29T>G)
c.5137-29T>G (n.5137-29T>G)
c.1840-29T>G (n.1840-29T>G)
c.5341-29T>G (n.5341-29T>G)
c.1665-29T>G
c.1852-29T>G (n.1852-29T>G)
c.*5061-29T>G (n.*5061-29T>G)
c.208-29T>G (n.208-29T>G)
c.751-29T>G (n.751-29T>G)
c.-98-956T>G (n.-98-956T>G)
n.5414-29T>G
n.5455-29T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43051146A>GCA2638061061BRCA1c.5275-29T>C (n.5275-29T>C)
c.5278-29T>C (n.5278-29T>C)
c.5152-29T>C (n.5152-29T>C)
c.5272-29T>C (n.5272-29T>C)
c.5200-29T>C (n.5200-29T>C)
c.1966-29T>C (n.1966-29T>C)
c.1828-29T>C (n.1828-29T>C)
c.4390-29T>C (n.4390-29T>C)
c.5155-29T>C (n.5155-29T>C)
c.5344-29T>C (n.5344-29T>C)
c.5137-29T>C (n.5137-29T>C)
c.1840-29T>C (n.1840-29T>C)
c.5341-29T>C (n.5341-29T>C)
c.1665-29T>C
c.1852-29T>C (n.1852-29T>C)
c.*5061-29T>C (n.*5061-29T>C)
c.208-29T>C (n.208-29T>C)
c.751-29T>C (n.751-29T>C)
c.-98-956T>C (n.-98-956T>C)
n.5414-29T>C
n.5455-29T>C
 dbSNP gnomAD v4
17g.43051146_43051147delCA2638061060BRCA1c.5275-30_5275-29del (n.5275-30_5275-29del)
c.5278-30_5278-29del (n.5278-30_5278-29del)
c.5152-30_5152-29del (n.5152-30_5152-29del)
c.5272-30_5272-29del (n.5272-30_5272-29del)
c.5200-30_5200-29del (n.5200-30_5200-29del)
c.1966-30_1966-29del (n.1966-30_1966-29del)
c.1828-30_1828-29del (n.1828-30_1828-29del)
c.4390-30_4390-29del (n.4390-30_4390-29del)
c.5155-30_5155-29del (n.5155-30_5155-29del)
c.5344-30_5344-29del (n.5344-30_5344-29del)
c.5137-30_5137-29del (n.5137-30_5137-29del)
c.1840-30_1840-29del (n.1840-30_1840-29del)
c.5341-30_5341-29del (n.5341-30_5341-29del)
c.1665-30_1665-29del
c.1852-30_1852-29del (n.1852-30_1852-29del)
c.*5061-30_*5061-29del (n.*5061-30_*5061-29del)
c.208-30_208-29del (n.208-30_208-29del)
c.751-30_751-29del (n.751-30_751-29del)
c.-98-957_-98-956del (n.-98-957_-98-956del)
n.5414-30_5414-29del
n.5455-30_5455-29del
 gnomAD v4
17g.43051147G>ACA2576282045BRCA1c.5275-30C>T (n.5275-30C>T)
c.5278-30C>T (n.5278-30C>T)
c.5152-30C>T (n.5152-30C>T)
c.5272-30C>T (n.5272-30C>T)
c.5200-30C>T (n.5200-30C>T)
c.1966-30C>T (n.1966-30C>T)
c.1828-30C>T (n.1828-30C>T)
c.4390-30C>T (n.4390-30C>T)
c.5155-30C>T (n.5155-30C>T)
c.5344-30C>T (n.5344-30C>T)
c.5137-30C>T (n.5137-30C>T)
c.1840-30C>T (n.1840-30C>T)
c.5341-30C>T (n.5341-30C>T)
c.1665-30C>T
c.1852-30C>T (n.1852-30C>T)
c.*5061-30C>T (n.*5061-30C>T)
c.208-30C>T (n.208-30C>T)
c.751-30C>T (n.751-30C>T)
c.-98-957C>T (n.-98-957C>T)
n.5414-30C>T
n.5455-30C>T
 dbSNP gnomAD v4
17g.43051147G>TCA2638061062BRCA1c.5275-30C>A (n.5275-30C>A)
c.5278-30C>A (n.5278-30C>A)
c.5152-30C>A (n.5152-30C>A)
c.5272-30C>A (n.5272-30C>A)
c.5200-30C>A (n.5200-30C>A)
c.1966-30C>A (n.1966-30C>A)
c.1828-30C>A (n.1828-30C>A)
c.4390-30C>A (n.4390-30C>A)
c.5155-30C>A (n.5155-30C>A)
c.5344-30C>A (n.5344-30C>A)
c.5137-30C>A (n.5137-30C>A)
c.1840-30C>A (n.1840-30C>A)
c.5341-30C>A (n.5341-30C>A)
c.1665-30C>A
c.1852-30C>A (n.1852-30C>A)
c.*5061-30C>A (n.*5061-30C>A)
c.208-30C>A (n.208-30C>A)
c.751-30C>A (n.751-30C>A)
c.-98-957C>A (n.-98-957C>A)
n.5414-30C>A
n.5455-30C>A
 dbSNP gnomAD v4
17g.43051148G>ACA054391BRCA1c.5275-31C>T (n.5275-31C>T)
c.5278-31C>T (n.5278-31C>T)
c.5152-31C>T (n.5152-31C>T)
c.5272-31C>T (n.5272-31C>T)
c.5200-31C>T (n.5200-31C>T)
c.1966-31C>T (n.1966-31C>T)
c.1828-31C>T (n.1828-31C>T)
c.4390-31C>T (n.4390-31C>T)
c.5155-31C>T (n.5155-31C>T)
c.5344-31C>T (n.5344-31C>T)
c.5137-31C>T (n.5137-31C>T)
c.1840-31C>T (n.1840-31C>T)
c.5341-31C>T (n.5341-31C>T)
c.1665-31C>T
c.1852-31C>T (n.1852-31C>T)
c.*5061-31C>T (n.*5061-31C>T)
c.208-31C>T (n.208-31C>T)
c.751-31C>T (n.751-31C>T)
c.-98-958C>T (n.-98-958C>T)
n.5414-31C>T
n.5455-31C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051148G=CA2260763787BRCA1c.5275-31C= (n.5275-31C=)
c.5278-31C= (n.5278-31C=)
c.5152-31C= (n.5152-31C=)
c.5272-31C= (n.5272-31C=)
c.5200-31C= (n.5200-31C=)
c.1966-31C= (n.1966-31C=)
c.1828-31C= (n.1828-31C=)
c.4390-31C= (n.4390-31C=)
c.5155-31C= (n.5155-31C=)
c.5344-31C= (n.5344-31C=)
c.5137-31C= (n.5137-31C=)
c.1840-31C= (n.1840-31C=)
c.5341-31C= (n.5341-31C=)
c.1665-31C=
c.1852-31C= (n.1852-31C=)
c.*5061-31C= (n.*5061-31C=)
c.208-31C= (n.208-31C=)
c.751-31C= (n.751-31C=)
c.-98-958C= (n.-98-958C=)
n.5414-31C=
n.5455-31C=
17g.43051149G>ACA054401BRCA1c.5275-32C>T (n.5275-32C>T)
c.5278-32C>T (n.5278-32C>T)
c.5152-32C>T (n.5152-32C>T)
c.5272-32C>T (n.5272-32C>T)
c.5200-32C>T (n.5200-32C>T)
c.1966-32C>T (n.1966-32C>T)
c.1828-32C>T (n.1828-32C>T)
c.4390-32C>T (n.4390-32C>T)
c.5155-32C>T (n.5155-32C>T)
c.5344-32C>T (n.5344-32C>T)
c.5137-32C>T (n.5137-32C>T)
c.1840-32C>T (n.1840-32C>T)
c.5341-32C>T (n.5341-32C>T)
c.1665-32C>T
c.1852-32C>T (n.1852-32C>T)
c.*5061-32C>T (n.*5061-32C>T)
c.208-32C>T (n.208-32C>T)
c.751-32C>T (n.751-32C>T)
c.-98-959C>T (n.-98-959C>T)
n.5414-32C>T
n.5455-32C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43051149G=CA2260763788BRCA1c.5275-32C= (n.5275-32C=)
c.5278-32C= (n.5278-32C=)
c.5152-32C= (n.5152-32C=)
c.5272-32C= (n.5272-32C=)
c.5200-32C= (n.5200-32C=)
c.1966-32C= (n.1966-32C=)
c.1828-32C= (n.1828-32C=)
c.4390-32C= (n.4390-32C=)
c.5155-32C= (n.5155-32C=)
c.5344-32C= (n.5344-32C=)
c.5137-32C= (n.5137-32C=)
c.1840-32C= (n.1840-32C=)
c.5341-32C= (n.5341-32C=)
c.1665-32C=
c.1852-32C= (n.1852-32C=)
c.*5061-32C= (n.*5061-32C=)
c.208-32C= (n.208-32C=)
c.751-32C= (n.751-32C=)
c.-98-959C= (n.-98-959C=)
n.5414-32C=
n.5455-32C=
17g.43051149G>TCA2638061063BRCA1c.5275-32C>A (n.5275-32C>A)
c.5278-32C>A (n.5278-32C>A)
c.5152-32C>A (n.5152-32C>A)
c.5272-32C>A (n.5272-32C>A)
c.5200-32C>A (n.5200-32C>A)
c.1966-32C>A (n.1966-32C>A)
c.1828-32C>A (n.1828-32C>A)
c.4390-32C>A (n.4390-32C>A)
c.5155-32C>A (n.5155-32C>A)
c.5344-32C>A (n.5344-32C>A)
c.5137-32C>A (n.5137-32C>A)
c.1840-32C>A (n.1840-32C>A)
c.5341-32C>A (n.5341-32C>A)
c.1665-32C>A
c.1852-32C>A (n.1852-32C>A)
c.*5061-32C>A (n.*5061-32C>A)
c.208-32C>A (n.208-32C>A)
c.751-32C>A (n.751-32C>A)
c.-98-959C>A (n.-98-959C>A)
n.5414-32C>A
n.5455-32C>A
 gnomAD v4
17g.43051150G>ACA2260763790BRCA1c.5275-33C>T (n.5275-33C>T)
c.5278-33C>T (n.5278-33C>T)
c.5152-33C>T (n.5152-33C>T)
c.5272-33C>T (n.5272-33C>T)
c.5200-33C>T (n.5200-33C>T)
c.1966-33C>T (n.1966-33C>T)
c.1828-33C>T (n.1828-33C>T)
c.4390-33C>T (n.4390-33C>T)
c.5155-33C>T (n.5155-33C>T)
c.5344-33C>T (n.5344-33C>T)
c.5137-33C>T (n.5137-33C>T)
c.1840-33C>T (n.1840-33C>T)
c.5341-33C>T (n.5341-33C>T)
c.1665-33C>T
c.1852-33C>T (n.1852-33C>T)
c.*5061-33C>T (n.*5061-33C>T)
c.208-33C>T (n.208-33C>T)
c.751-33C>T (n.751-33C>T)
c.-98-960C>T (n.-98-960C>T)
n.5414-33C>T
n.5455-33C>T
 dbSNP
17g.43051150G=CA2260763789BRCA1c.5275-33C= (n.5275-33C=)
c.5278-33C= (n.5278-33C=)
c.5152-33C= (n.5152-33C=)
c.5272-33C= (n.5272-33C=)
c.5200-33C= (n.5200-33C=)
c.1966-33C= (n.1966-33C=)
c.1828-33C= (n.1828-33C=)
c.4390-33C= (n.4390-33C=)
c.5155-33C= (n.5155-33C=)
c.5344-33C= (n.5344-33C=)
c.5137-33C= (n.5137-33C=)
c.1840-33C= (n.1840-33C=)
c.5341-33C= (n.5341-33C=)
c.1665-33C=
c.1852-33C= (n.1852-33C=)
c.*5061-33C= (n.*5061-33C=)
c.208-33C= (n.208-33C=)
c.751-33C= (n.751-33C=)
c.-98-960C= (n.-98-960C=)
n.5414-33C=
n.5455-33C=
17g.43051150G>TCA2638061064BRCA1c.5275-33C>A (n.5275-33C>A)
c.5278-33C>A (n.5278-33C>A)
c.5152-33C>A (n.5152-33C>A)
c.5272-33C>A (n.5272-33C>A)
c.5200-33C>A (n.5200-33C>A)
c.1966-33C>A (n.1966-33C>A)
c.1828-33C>A (n.1828-33C>A)
c.4390-33C>A (n.4390-33C>A)
c.5155-33C>A (n.5155-33C>A)
c.5344-33C>A (n.5344-33C>A)
c.5137-33C>A (n.5137-33C>A)
c.1840-33C>A (n.1840-33C>A)
c.5341-33C>A (n.5341-33C>A)
c.1665-33C>A
c.1852-33C>A (n.1852-33C>A)
c.*5061-33C>A (n.*5061-33C>A)
c.208-33C>A (n.208-33C>A)
c.751-33C>A (n.751-33C>A)
c.-98-960C>A (n.-98-960C>A)
n.5414-33C>A
n.5455-33C>A
 gnomAD v4
17g.43051151A>GCA2733908676BRCA1c.5275-34T>C (n.5275-34T>C)
c.5278-34T>C (n.5278-34T>C)
c.5152-34T>C (n.5152-34T>C)
c.5272-34T>C (n.5272-34T>C)
c.5200-34T>C (n.5200-34T>C)
c.1966-34T>C (n.1966-34T>C)
c.1828-34T>C (n.1828-34T>C)
c.4390-34T>C (n.4390-34T>C)
c.5155-34T>C (n.5155-34T>C)
c.5344-34T>C (n.5344-34T>C)
c.5137-34T>C (n.5137-34T>C)
c.1840-34T>C (n.1840-34T>C)
c.5341-34T>C (n.5341-34T>C)
c.1665-34T>C
c.1852-34T>C (n.1852-34T>C)
c.*5061-34T>C (n.*5061-34T>C)
c.208-34T>C (n.208-34T>C)
c.751-34T>C (n.751-34T>C)
c.-98-961T>C (n.-98-961T>C)
n.5414-34T>C
n.5455-34T>C
 dbSNP
17g.43051153_43051154insCTGTCTCTTATACAATCA919844241BRCA1c.5275-34_5275-33insGTATAAGAGACAGATT (n.5275-34_5275-33insGTATAAGAGACAGATT)
c.5278-34_5278-33insGTATAAGAGACAGATT (n.5278-34_5278-33insGTATAAGAGACAGATT)
c.5152-34_5152-33insGTATAAGAGACAGATT (n.5152-34_5152-33insGTATAAGAGACAGATT)
c.5272-34_5272-33insGTATAAGAGACAGATT (n.5272-34_5272-33insGTATAAGAGACAGATT)
c.5200-34_5200-33insGTATAAGAGACAGATT (n.5200-34_5200-33insGTATAAGAGACAGATT)
c.1966-34_1966-33insGTATAAGAGACAGATT (n.1966-34_1966-33insGTATAAGAGACAGATT)
c.1828-34_1828-33insGTATAAGAGACAGATT (n.1828-34_1828-33insGTATAAGAGACAGATT)
c.4390-34_4390-33insGTATAAGAGACAGATT (n.4390-34_4390-33insGTATAAGAGACAGATT)
c.5155-34_5155-33insGTATAAGAGACAGATT (n.5155-34_5155-33insGTATAAGAGACAGATT)
c.5344-34_5344-33insGTATAAGAGACAGATT (n.5344-34_5344-33insGTATAAGAGACAGATT)
c.5137-34_5137-33insGTATAAGAGACAGATT (n.5137-34_5137-33insGTATAAGAGACAGATT)
c.1840-34_1840-33insGTATAAGAGACAGATT (n.1840-34_1840-33insGTATAAGAGACAGATT)
c.5341-34_5341-33insGTATAAGAGACAGATT (n.5341-34_5341-33insGTATAAGAGACAGATT)
c.1665-34_1665-33insGTATAAGAGACAGATT
c.1852-34_1852-33insGTATAAGAGACAGATT (n.1852-34_1852-33insGTATAAGAGACAGATT)
c.*5061-34_*5061-33insGTATAAGAGACAGATT (n.*5061-34_*5061-33insGTATAAGAGACAGATT)
c.208-34_208-33insGTATAAGAGACAGATT (n.208-34_208-33insGTATAAGAGACAGATT)
c.751-34_751-33insGTATAAGAGACAGATT (n.751-34_751-33insGTATAAGAGACAGATT)
c.-98-961_-98-960insGTATAAGAGACAGATT (n.-98-961_-98-960insGTATAAGAGACAGATT)
n.5414-34_5414-33insGTATAAGAGACAGATT
n.5455-34_5455-33insGTATAAGAGACAGATT
 dbSNP
17g.43051153T>ACA2733908687BRCA1c.5275-36A>T (n.5275-36A>T)
c.5278-36A>T (n.5278-36A>T)
c.5152-36A>T (n.5152-36A>T)
c.5272-36A>T (n.5272-36A>T)
c.5200-36A>T (n.5200-36A>T)
c.1966-36A>T (n.1966-36A>T)
c.1828-36A>T (n.1828-36A>T)
c.4390-36A>T (n.4390-36A>T)
c.5155-36A>T (n.5155-36A>T)
c.5344-36A>T (n.5344-36A>T)
c.5137-36A>T (n.5137-36A>T)
c.1840-36A>T (n.1840-36A>T)
c.5341-36A>T (n.5341-36A>T)
c.1665-36A>T
c.1852-36A>T (n.1852-36A>T)
c.*5061-36A>T (n.*5061-36A>T)
c.208-36A>T (n.208-36A>T)
c.751-36A>T (n.751-36A>T)
c.-98-963A>T (n.-98-963A>T)
n.5414-36A>T
n.5455-36A>T
 dbSNP
17g.43051153T>CCA2576282046BRCA1c.5275-36A>G (n.5275-36A>G)
c.5278-36A>G (n.5278-36A>G)
c.5152-36A>G (n.5152-36A>G)
c.5272-36A>G (n.5272-36A>G)
c.5200-36A>G (n.5200-36A>G)
c.1966-36A>G (n.1966-36A>G)
c.1828-36A>G (n.1828-36A>G)
c.4390-36A>G (n.4390-36A>G)
c.5155-36A>G (n.5155-36A>G)
c.5344-36A>G (n.5344-36A>G)
c.5137-36A>G (n.5137-36A>G)
c.1840-36A>G (n.1840-36A>G)
c.5341-36A>G (n.5341-36A>G)
c.1665-36A>G
c.1852-36A>G (n.1852-36A>G)
c.*5061-36A>G (n.*5061-36A>G)
c.208-36A>G (n.208-36A>G)
c.751-36A>G (n.751-36A>G)
c.-98-963A>G (n.-98-963A>G)
n.5414-36A>G
n.5455-36A>G
 gnomAD v4
17g.43051153T>GCA2733908706BRCA1c.5275-36A>C (n.5275-36A>C)
c.5278-36A>C (n.5278-36A>C)
c.5152-36A>C (n.5152-36A>C)
c.5272-36A>C (n.5272-36A>C)
c.5200-36A>C (n.5200-36A>C)
c.1966-36A>C (n.1966-36A>C)
c.1828-36A>C (n.1828-36A>C)
c.4390-36A>C (n.4390-36A>C)
c.5155-36A>C (n.5155-36A>C)
c.5344-36A>C (n.5344-36A>C)
c.5137-36A>C (n.5137-36A>C)
c.1840-36A>C (n.1840-36A>C)
c.5341-36A>C (n.5341-36A>C)
c.1665-36A>C
c.1852-36A>C (n.1852-36A>C)
c.*5061-36A>C (n.*5061-36A>C)
c.208-36A>C (n.208-36A>C)
c.751-36A>C (n.751-36A>C)
c.-98-963A>C (n.-98-963A>C)
n.5414-36A>C
n.5455-36A>C
 dbSNP
17g.43051154G>ACA2638061065BRCA1c.5275-37C>T (n.5275-37C>T)
c.5278-37C>T (n.5278-37C>T)
c.5152-37C>T (n.5152-37C>T)
c.5272-37C>T (n.5272-37C>T)
c.5200-37C>T (n.5200-37C>T)
c.1966-37C>T (n.1966-37C>T)
c.1828-37C>T (n.1828-37C>T)
c.4390-37C>T (n.4390-37C>T)
c.5155-37C>T (n.5155-37C>T)
c.5344-37C>T (n.5344-37C>T)
c.5137-37C>T (n.5137-37C>T)
c.1840-37C>T (n.1840-37C>T)
c.5341-37C>T (n.5341-37C>T)
c.1665-37C>T
c.1852-37C>T (n.1852-37C>T)
c.*5061-37C>T (n.*5061-37C>T)
c.208-37C>T (n.208-37C>T)
c.751-37C>T (n.751-37C>T)
c.-98-964C>T (n.-98-964C>T)
n.5414-37C>T
n.5455-37C>T
 gnomAD v4
17g.43051154G>TCA2576282047BRCA1c.5275-37C>A (n.5275-37C>A)
c.5278-37C>A (n.5278-37C>A)
c.5152-37C>A (n.5152-37C>A)
c.5272-37C>A (n.5272-37C>A)
c.5200-37C>A (n.5200-37C>A)
c.1966-37C>A (n.1966-37C>A)
c.1828-37C>A (n.1828-37C>A)
c.4390-37C>A (n.4390-37C>A)
c.5155-37C>A (n.5155-37C>A)
c.5344-37C>A (n.5344-37C>A)
c.5137-37C>A (n.5137-37C>A)
c.1840-37C>A (n.1840-37C>A)
c.5341-37C>A (n.5341-37C>A)
c.1665-37C>A
c.1852-37C>A (n.1852-37C>A)
c.*5061-37C>A (n.*5061-37C>A)
c.208-37C>A (n.208-37C>A)
c.751-37C>A (n.751-37C>A)
c.-98-964C>A (n.-98-964C>A)
n.5414-37C>A
n.5455-37C>A
 dbSNP gnomAD v4
17g.43051155G>ACA2733908758BRCA1c.5275-38C>T (n.5275-38C>T)
c.5278-38C>T (n.5278-38C>T)
c.5152-38C>T (n.5152-38C>T)
c.5272-38C>T (n.5272-38C>T)
c.5200-38C>T (n.5200-38C>T)
c.1966-38C>T (n.1966-38C>T)
c.1828-38C>T (n.1828-38C>T)
c.4390-38C>T (n.4390-38C>T)
c.5155-38C>T (n.5155-38C>T)
c.5344-38C>T (n.5344-38C>T)
c.5137-38C>T (n.5137-38C>T)
c.1840-38C>T (n.1840-38C>T)
c.5341-38C>T (n.5341-38C>T)
c.1665-38C>T
c.1852-38C>T (n.1852-38C>T)
c.*5061-38C>T (n.*5061-38C>T)
c.208-38C>T (n.208-38C>T)
c.751-38C>T (n.751-38C>T)
c.-98-965C>T (n.-98-965C>T)
n.5414-38C>T
n.5455-38C>T
 dbSNP
17g.43051155G>TCA2638061066BRCA1c.5275-38C>A (n.5275-38C>A)
c.5278-38C>A (n.5278-38C>A)
c.5152-38C>A (n.5152-38C>A)
c.5272-38C>A (n.5272-38C>A)
c.5200-38C>A (n.5200-38C>A)
c.1966-38C>A (n.1966-38C>A)
c.1828-38C>A (n.1828-38C>A)
c.4390-38C>A (n.4390-38C>A)
c.5155-38C>A (n.5155-38C>A)
c.5344-38C>A (n.5344-38C>A)
c.5137-38C>A (n.5137-38C>A)
c.1840-38C>A (n.1840-38C>A)
c.5341-38C>A (n.5341-38C>A)
c.1665-38C>A
c.1852-38C>A (n.1852-38C>A)
c.*5061-38C>A (n.*5061-38C>A)
c.208-38C>A (n.208-38C>A)
c.751-38C>A (n.751-38C>A)
c.-98-965C>A (n.-98-965C>A)
n.5414-38C>A
n.5455-38C>A
 gnomAD v4
17g.43051156A>GCA2576282048BRCA1c.5275-39T>C (n.5275-39T>C)
c.5278-39T>C (n.5278-39T>C)
c.5152-39T>C (n.5152-39T>C)
c.5272-39T>C (n.5272-39T>C)
c.5200-39T>C (n.5200-39T>C)
c.1966-39T>C (n.1966-39T>C)
c.1828-39T>C (n.1828-39T>C)
c.4390-39T>C (n.4390-39T>C)
c.5155-39T>C (n.5155-39T>C)
c.5344-39T>C (n.5344-39T>C)
c.5137-39T>C (n.5137-39T>C)
c.1840-39T>C (n.1840-39T>C)
c.5341-39T>C (n.5341-39T>C)
c.1665-39T>C
c.1852-39T>C (n.1852-39T>C)
c.*5061-39T>C (n.*5061-39T>C)
c.208-39T>C (n.208-39T>C)
c.751-39T>C (n.751-39T>C)
c.-98-966T>C (n.-98-966T>C)
n.5414-39T>C
n.5455-39T>C
 gnomAD v4
17g.43051157G>ACA2733908760BRCA1c.5275-40C>T (n.5275-40C>T)
c.5278-40C>T (n.5278-40C>T)
c.5152-40C>T (n.5152-40C>T)
c.5272-40C>T (n.5272-40C>T)
c.5200-40C>T (n.5200-40C>T)
c.1966-40C>T (n.1966-40C>T)
c.1828-40C>T (n.1828-40C>T)
c.4390-40C>T (n.4390-40C>T)
c.5155-40C>T (n.5155-40C>T)
c.5344-40C>T (n.5344-40C>T)
c.5137-40C>T (n.5137-40C>T)
c.1840-40C>T (n.1840-40C>T)
c.5341-40C>T (n.5341-40C>T)
c.1665-40C>T
c.1852-40C>T (n.1852-40C>T)
c.*5061-40C>T (n.*5061-40C>T)
c.208-40C>T (n.208-40C>T)
c.751-40C>T (n.751-40C>T)
c.-98-967C>T (n.-98-967C>T)
n.5414-40C>T
n.5455-40C>T
 dbSNP
17g.43051157G>TCA2638061067BRCA1c.5275-40C>A (n.5275-40C>A)
c.5278-40C>A (n.5278-40C>A)
c.5152-40C>A (n.5152-40C>A)
c.5272-40C>A (n.5272-40C>A)
c.5200-40C>A (n.5200-40C>A)
c.1966-40C>A (n.1966-40C>A)
c.1828-40C>A (n.1828-40C>A)
c.4390-40C>A (n.4390-40C>A)
c.5155-40C>A (n.5155-40C>A)
c.5344-40C>A (n.5344-40C>A)
c.5137-40C>A (n.5137-40C>A)
c.1840-40C>A (n.1840-40C>A)
c.5341-40C>A (n.5341-40C>A)
c.1665-40C>A
c.1852-40C>A (n.1852-40C>A)
c.*5061-40C>A (n.*5061-40C>A)
c.208-40C>A (n.208-40C>A)
c.751-40C>A (n.751-40C>A)
c.-98-967C>A (n.-98-967C>A)
n.5414-40C>A
n.5455-40C>A
 dbSNP gnomAD v4
17g.43051159G>ACA2733908810BRCA1c.5275-42C>T (n.5275-42C>T)
c.5278-42C>T (n.5278-42C>T)
c.5152-42C>T (n.5152-42C>T)
c.5272-42C>T (n.5272-42C>T)
c.5200-42C>T (n.5200-42C>T)
c.1966-42C>T (n.1966-42C>T)
c.1828-42C>T (n.1828-42C>T)
c.4390-42C>T (n.4390-42C>T)
c.5155-42C>T (n.5155-42C>T)
c.5344-42C>T (n.5344-42C>T)
c.5137-42C>T (n.5137-42C>T)
c.1840-42C>T (n.1840-42C>T)
c.5341-42C>T (n.5341-42C>T)
c.1665-42C>T
c.1852-42C>T (n.1852-42C>T)
c.*5061-42C>T (n.*5061-42C>T)
c.208-42C>T (n.208-42C>T)
c.751-42C>T (n.751-42C>T)
c.-98-969C>T (n.-98-969C>T)
n.5414-42C>T
n.5455-42C>T
 dbSNP
17g.43051159G>TCA2576282049BRCA1c.5275-42C>A (n.5275-42C>A)
c.5278-42C>A (n.5278-42C>A)
c.5152-42C>A (n.5152-42C>A)
c.5272-42C>A (n.5272-42C>A)
c.5200-42C>A (n.5200-42C>A)
c.1966-42C>A (n.1966-42C>A)
c.1828-42C>A (n.1828-42C>A)
c.4390-42C>A (n.4390-42C>A)
c.5155-42C>A (n.5155-42C>A)
c.5344-42C>A (n.5344-42C>A)
c.5137-42C>A (n.5137-42C>A)
c.1840-42C>A (n.1840-42C>A)
c.5341-42C>A (n.5341-42C>A)
c.1665-42C>A
c.1852-42C>A (n.1852-42C>A)
c.*5061-42C>A (n.*5061-42C>A)
c.208-42C>A (n.208-42C>A)
c.751-42C>A (n.751-42C>A)
c.-98-969C>A (n.-98-969C>A)
n.5414-42C>A
n.5455-42C>A
 gnomAD v4
17g.43051163_43051172delCA2638061068BRCA1c.5275-53_5275-44del (n.5275-53_5275-44del)
c.5278-53_5278-44del (n.5278-53_5278-44del)
c.5152-53_5152-44del (n.5152-53_5152-44del)
c.5272-53_5272-44del (n.5272-53_5272-44del)
c.5200-53_5200-44del (n.5200-53_5200-44del)
c.1966-53_1966-44del (n.1966-53_1966-44del)
c.1828-53_1828-44del (n.1828-53_1828-44del)
c.4390-53_4390-44del (n.4390-53_4390-44del)
c.5155-53_5155-44del (n.5155-53_5155-44del)
c.5344-53_5344-44del (n.5344-53_5344-44del)
c.5137-53_5137-44del (n.5137-53_5137-44del)
c.1840-53_1840-44del (n.1840-53_1840-44del)
c.5341-53_5341-44del (n.5341-53_5341-44del)
c.1665-53_1665-44del
c.1852-53_1852-44del (n.1852-53_1852-44del)
c.*5061-53_*5061-44del (n.*5061-53_*5061-44del)
c.208-53_208-44del (n.208-53_208-44del)
c.751-53_751-44del (n.751-53_751-44del)
c.-98-980_-98-971del (n.-98-980_-98-971del)
n.5414-53_5414-44del
n.5455-53_5455-44del
 gnomAD v4
17g.43051162G>ACA054405BRCA1c.5275-45C>T (n.5275-45C>T)
c.5278-45C>T (n.5278-45C>T)
c.5152-45C>T (n.5152-45C>T)
c.5272-45C>T (n.5272-45C>T)
c.5200-45C>T (n.5200-45C>T)
c.1966-45C>T (n.1966-45C>T)
c.1828-45C>T (n.1828-45C>T)
c.4390-45C>T (n.4390-45C>T)
c.5155-45C>T (n.5155-45C>T)
c.5344-45C>T (n.5344-45C>T)
c.5137-45C>T (n.5137-45C>T)
c.1840-45C>T (n.1840-45C>T)
c.5341-45C>T (n.5341-45C>T)
c.1665-45C>T
c.1852-45C>T (n.1852-45C>T)
c.*5061-45C>T (n.*5061-45C>T)
c.208-45C>T (n.208-45C>T)
c.751-45C>T (n.751-45C>T)
c.-98-972C>T (n.-98-972C>T)
n.5414-45C>T
n.5455-45C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43051162G=CA2260763791BRCA1c.5275-45C= (n.5275-45C=)
c.5278-45C= (n.5278-45C=)
c.5152-45C= (n.5152-45C=)
c.5272-45C= (n.5272-45C=)
c.5200-45C= (n.5200-45C=)
c.1966-45C= (n.1966-45C=)
c.1828-45C= (n.1828-45C=)
c.4390-45C= (n.4390-45C=)
c.5155-45C= (n.5155-45C=)
c.5344-45C= (n.5344-45C=)
c.5137-45C= (n.5137-45C=)
c.1840-45C= (n.1840-45C=)
c.5341-45C= (n.5341-45C=)
c.1665-45C=
c.1852-45C= (n.1852-45C=)
c.*5061-45C= (n.*5061-45C=)
c.208-45C= (n.208-45C=)
c.751-45C= (n.751-45C=)
c.-98-972C= (n.-98-972C=)
n.5414-45C=
n.5455-45C=
17g.43051162G>TCA2733648014BRCA1c.5275-45C>A (n.5275-45C>A)
c.5278-45C>A (n.5278-45C>A)
c.5152-45C>A (n.5152-45C>A)
c.5272-45C>A (n.5272-45C>A)
c.5200-45C>A (n.5200-45C>A)
c.1966-45C>A (n.1966-45C>A)
c.1828-45C>A (n.1828-45C>A)
c.4390-45C>A (n.4390-45C>A)
c.5155-45C>A (n.5155-45C>A)
c.5344-45C>A (n.5344-45C>A)
c.5137-45C>A (n.5137-45C>A)
c.1840-45C>A (n.1840-45C>A)
c.5341-45C>A (n.5341-45C>A)
c.1665-45C>A
c.1852-45C>A (n.1852-45C>A)
c.*5061-45C>A (n.*5061-45C>A)
c.208-45C>A (n.208-45C>A)
c.751-45C>A (n.751-45C>A)
c.-98-972C>A (n.-98-972C>A)
n.5414-45C>A
n.5455-45C>A
 dbSNP
17g.43051163G>TCA2638061069BRCA1c.5275-46C>A (n.5275-46C>A)
c.5278-46C>A (n.5278-46C>A)
c.5152-46C>A (n.5152-46C>A)
c.5272-46C>A (n.5272-46C>A)
c.5200-46C>A (n.5200-46C>A)
c.1966-46C>A (n.1966-46C>A)
c.1828-46C>A (n.1828-46C>A)
c.4390-46C>A (n.4390-46C>A)
c.5155-46C>A (n.5155-46C>A)
c.5344-46C>A (n.5344-46C>A)
c.5137-46C>A (n.5137-46C>A)
c.1840-46C>A (n.1840-46C>A)
c.5341-46C>A (n.5341-46C>A)
c.1665-46C>A
c.1852-46C>A (n.1852-46C>A)
c.*5061-46C>A (n.*5061-46C>A)
c.208-46C>A (n.208-46C>A)
c.751-46C>A (n.751-46C>A)
c.-98-973C>A (n.-98-973C>A)
n.5414-46C>A
n.5455-46C>A
 gnomAD v4
17g.43051163_43051164delinsGACA2260763792BRCA1c.5275-47_5275-46delinsTC (n.5275-47_5275-46delinsTC)
c.5278-47_5278-46delinsTC (n.5278-47_5278-46delinsTC)
c.5152-47_5152-46delinsTC (n.5152-47_5152-46delinsTC)
c.5272-47_5272-46delinsTC (n.5272-47_5272-46delinsTC)
c.5200-47_5200-46delinsTC (n.5200-47_5200-46delinsTC)
c.1966-47_1966-46delinsTC (n.1966-47_1966-46delinsTC)
c.1828-47_1828-46delinsTC (n.1828-47_1828-46delinsTC)
c.4390-47_4390-46delinsTC (n.4390-47_4390-46delinsTC)
c.5155-47_5155-46delinsTC (n.5155-47_5155-46delinsTC)
c.5344-47_5344-46delinsTC (n.5344-47_5344-46delinsTC)
c.5137-47_5137-46delinsTC (n.5137-47_5137-46delinsTC)
c.1840-47_1840-46delinsTC (n.1840-47_1840-46delinsTC)
c.5341-47_5341-46delinsTC (n.5341-47_5341-46delinsTC)
c.1665-47_1665-46delinsTC
c.1852-47_1852-46delinsTC (n.1852-47_1852-46delinsTC)
c.*5061-47_*5061-46delinsTC (n.*5061-47_*5061-46delinsTC)
c.208-47_208-46delinsTC (n.208-47_208-46delinsTC)
c.751-47_751-46delinsTC (n.751-47_751-46delinsTC)
c.-98-974_-98-973delinsTC (n.-98-974_-98-973delinsTC)
n.5414-47_5414-46delinsTC
n.5455-47_5455-46delinsTC
17g.43051167delCA2260763793BRCA1c.5275-47del (n.5275-47del)
c.5278-47del (n.5278-47del)
c.5152-47del (n.5152-47del)
c.5272-47del (n.5272-47del)
c.5200-47del (n.5200-47del)
c.1966-47del (n.1966-47del)
c.1828-47del (n.1828-47del)
c.4390-47del (n.4390-47del)
c.5155-47del (n.5155-47del)
c.5344-47del (n.5344-47del)
c.5137-47del (n.5137-47del)
c.1840-47del (n.1840-47del)
c.5341-47del (n.5341-47del)
c.1665-47del
c.1852-47del (n.1852-47del)
c.*5061-47del (n.*5061-47del)
c.208-47del (n.208-47del)
c.751-47del (n.751-47del)
c.-98-974del (n.-98-974del)
n.5414-47del
n.5455-47del
 dbSNP gnomAD v4
17g.43051164_43051165insGAGGGGAGTAGCGGAGAAGAGAGGAGGGGCA2733908828BRCA1c.5275-48_5275-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5275-48_5275-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5278-48_5278-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5278-48_5278-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5152-48_5152-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5152-48_5152-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5272-48_5272-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5272-48_5272-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5200-48_5200-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5200-48_5200-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.1966-48_1966-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.1966-48_1966-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.1828-48_1828-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.1828-48_1828-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.4390-48_4390-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.4390-48_4390-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5155-48_5155-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5155-48_5155-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5344-48_5344-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5344-48_5344-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5137-48_5137-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5137-48_5137-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.1840-48_1840-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.1840-48_1840-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.5341-48_5341-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.5341-48_5341-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.1665-48_1665-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC
c.1852-48_1852-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.1852-48_1852-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.*5061-48_*5061-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.*5061-48_*5061-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.208-48_208-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.208-48_208-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.751-48_751-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.751-48_751-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
c.-98-975_-98-974insCCCCTCCTCTCTTCTCCGCTACTCCCCTC (n.-98-975_-98-974insCCCCTCCTCTCTTCTCCGCTACTCCCCTC)
n.5414-48_5414-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC
n.5455-48_5455-47insCCCCTCCTCTCTTCTCCGCTACTCCCCTC
 dbSNP
17g.43051166A>GCA2638061070BRCA1c.5275-49T>C (n.5275-49T>C)
c.5278-49T>C (n.5278-49T>C)
c.5152-49T>C (n.5152-49T>C)
c.5272-49T>C (n.5272-49T>C)
c.5200-49T>C (n.5200-49T>C)
c.1966-49T>C (n.1966-49T>C)
c.1828-49T>C (n.1828-49T>C)
c.4390-49T>C (n.4390-49T>C)
c.5155-49T>C (n.5155-49T>C)
c.5344-49T>C (n.5344-49T>C)
c.5137-49T>C (n.5137-49T>C)
c.1840-49T>C (n.1840-49T>C)
c.5341-49T>C (n.5341-49T>C)
c.1665-49T>C
c.1852-49T>C (n.1852-49T>C)
c.*5061-49T>C (n.*5061-49T>C)
c.208-49T>C (n.208-49T>C)
c.751-49T>C (n.751-49T>C)
c.-98-976T>C (n.-98-976T>C)
n.5414-49T>C
n.5455-49T>C
 gnomAD v4

Number of alleles fetched