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_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.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

Number of alleles fetched