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.43047679_43049196delCA913203498BRCA1c.5330_5430del
c.5333_5433del
c.5207_5307del
c.5327_5427del
c.5255_5355del
c.2021_2121del
c.1883_1983del
c.4445_4545del
c.5210_5310del
c.5399_5499del
c.5192_5292del
c.1895_1995del
n.1216_1316del
c.5396_5496del
c.1720_1820del
c.1907_2007del
c.*5116_*5216del
c.2021-1491_2047del
c.263_363del
c.806_906del
c.32_132del
n.5469_5569del
n.5510_5610del
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.43048720_43049230delCA2499224351BRCA1c.5330-36_5403+401del
c.5333-36_5406+401del
c.5207-36_5280+401del
c.5327-36_5400+401del
c.5255-36_5328+401del
c.2021-36_2094+401del
c.1883-36_1956+401del
c.4445-36_4518+401del
c.5210-36_5283+401del
c.5399-36_5472+401del
c.5192-36_5265+401del
c.1895-36_1968+401del
n.1180_1289+401del
c.5396-36_5469+401del
c.1720-36_1793+401del
c.1907-36_1980+401del
c.*5116-36_*5189+401del
c.2021-1527_2021-1017del (n.2021-1527_2021-1017del)
c.263-36_336+401del
c.806-36_879+401del
c.32-36_105+401del
n.5469-36_5542+401del
n.5510-36_5583+401del
 ClinVar dbSNP
17g.43048720_43049230delinsCATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTACA2260762519BRCA1c.5330-36_5403+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5333-36_5406+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5207-36_5280+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5327-36_5400+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5255-36_5328+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.2021-36_2094+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.1883-36_1956+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.4445-36_4518+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5210-36_5283+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5399-36_5472+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5192-36_5265+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.1895-36_1968+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
n.1180_1289+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.5396-36_5469+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.1720-36_1793+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.1907-36_1980+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.*5116-36_*5189+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.2021-1527_2021-1017delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG (n.2021-1527_2021-1017delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG)
c.263-36_336+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.806-36_879+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
c.32-36_105+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
n.5469-36_5542+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
n.5510-36_5583+401delinsTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAGTAAGTATTGGGTGCCCTGTCAGAGAGGGAGGACACAATATTCTCTCCTGTGAGCAAGACTGGCACCTGTCAGTCCCTATGGATGCCCCTACTGTAGCCTCAGAAGTCTTCTCTGCCCACATACCTGTGCCAAAAGACTCCATCTGTAAGGGATGGGTAAGGATTTGAGAACTGCACATATTAAATATACTGAGGGAAGACTTTTTCCCTCTAACTCTTTTTCCCATATGTCCCTCCCCCTCCTCTCTGTGACTGCCCCAGCATACTGTGTTTCAACAAATCATCAAGAAATGATGGGCTGGAGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACTTGTCAGGAGTTTGAGACCAGCCTGGCCAACATG
17g.43048723_43049232delCA10602571BRCA1c.5330-36_5403+400del
c.5333-36_5406+400del
c.5207-36_5280+400del
c.5327-36_5400+400del
c.5255-36_5328+400del
c.2021-36_2094+400del
c.1883-36_1956+400del
c.4445-36_4518+400del
c.5210-36_5283+400del
c.5399-36_5472+400del
c.5192-36_5265+400del
c.1895-36_1968+400del
n.1180_1289+400del
c.5396-36_5469+400del
c.1720-36_1793+400del
c.1907-36_1980+400del
c.*5116-36_*5189+400del
c.2021-1527_2021-1018del (n.2021-1527_2021-1018del)
c.263-36_336+400del
c.806-36_879+400del
c.32-36_105+400del
n.5469-36_5542+400del
n.5510-36_5583+400del
 ClinVar dbSNP
17g.43049121_43049153delCA2499224354BRCA1c.5373_5403+2del
c.5376_5406+2del
c.5250_5280+2del
c.5370_5400+2del
c.5298_5328+2del
c.2064_2094+2del
c.1926_1956+2del
c.4488_4518+2del
c.5253_5283+2del
c.5442_5472+2del
c.5235_5265+2del
c.1938_1968+2del
n.1259_1289+2del
c.5439_5469+2del
c.1763_1793+2del
c.1950_1980+2del
c.*5159_*5189+2del
c.2021-1448_2021-1416del (n.2021-1448_2021-1416del)
c.306_336+2del
c.849_879+2del
c.75_105+2del
n.5512_5542+2del
n.5553_5583+2del
 ClinVar dbSNP
17g.43049119_43049195delCA2499224355BRCA1c.5330-1_5403+2del
c.5333-1_5406+2del
c.5207-1_5280+2del
c.5327-1_5400+2del
c.5255-1_5328+2del
c.2021-1_2094+2del
c.1883-1_1956+2del
c.4445-1_4518+2del
c.5210-1_5283+2del
c.5399-1_5472+2del
c.5192-1_5265+2del
c.1895-1_1968+2del
n.1215_1289+2del
c.5396-1_5469+2del
c.1720-1_1793+2del
c.1907-1_1980+2del
c.*5116-1_*5189+2del
c.2021-1492_2021-1416del (n.2021-1492_2021-1416del)
c.263-1_336+2del
c.806-1_879+2del
c.32-1_105+2del
n.5469-1_5542+2del
n.5510-1_5583+2del
 ClinVar dbSNP
17g.43049120_43049194delinsCTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCA2260762707BRCA1c.5330_5403+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5333_5406+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5207_5280+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5327_5400+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5255_5328+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.2021_2094+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.1883_1956+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.4445_4518+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5210_5283+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5399_5472+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5192_5265+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.1895_1968+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
n.1216_1289+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.5396_5469+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.1720_1793+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.1907_1980+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.*5116_*5189+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.2021-1491_2021-1417delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG (n.2021-1491_2021-1417delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG)
c.263_336+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.806_879+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
c.32_105+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
n.5469_5542+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
n.5510_5583+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG
17g.43049121_43049194delCA1139665551BRCA1c.5330_5403del (p.Asp1777GlyfsTer27)
c.5333_5406del (p.Asp1778GlyfsTer27)
c.5207_5280del (p.Asp1736GlyfsTer27)
c.5327_5400del (p.Asp1776GlyfsTer27)
c.5255_5328del (p.Asp1752GlyfsTer27)
c.2021_2094del (p.Asp674GlyfsTer27)
c.1883_1956del (p.Asp628GlyfsTer27)
c.4445_4518del (p.Asp1482GlyfsTer27)
c.5210_5283del (p.Asp1737GlyfsTer27)
c.5399_5472del (p.Asp1800GlyfsTer27)
c.5192_5265del (p.Asp1731GlyfsTer27)
c.1895_1968del (p.Asp632GlyfsTer27)
n.1216_1289del
c.5396_5469del (p.Asp1799GlyfsTer27)
c.1720_1793del
c.1907_1980del (p.Asp636GlyfsTer27)
c.*5116_*5189del (n.*5116_*5189del)
c.2021-1491_2021-1418del (n.2021-1491_2021-1418del)
c.263_336del (p.Asp88GlyfsTer27)
c.806_879del (p.Asp269GlyfsTer27)
c.32_105del (p.Tyr11TrpfsTer27)
n.5469_5542del
n.5510_5583del
 ClinVar dbSNP
17g.43049122_43049137dupCA919844191BRCA1c.5387_5402dup (p.Gly1802IlefsTer32)
c.5390_5405dup (p.Gly1803IlefsTer32)
c.5264_5279dup (p.Gly1761IlefsTer32)
c.5384_5399dup (p.Gly1801IlefsTer32)
c.5312_5327dup (p.Gly1777IlefsTer32)
c.2078_2093dup (p.Gly699IlefsTer32)
c.1940_1955dup (p.Gly653IlefsTer32)
c.4502_4517dup (p.Gly1507IlefsTer32)
c.5267_5282dup (p.Gly1762IlefsTer32)
c.5456_5471dup (p.Gly1825IlefsTer32)
c.5249_5264dup (p.Gly1756IlefsTer32)
c.1952_1967dup (p.Gly657IlefsTer32)
n.1273_1288dup
c.5453_5468dup (p.Gly1824IlefsTer32)
c.1777_1792dup
c.1964_1979dup (p.Gly661IlefsTer32)
c.*5173_*5188dup (n.*5173_*5188dup)
c.2021-1434_2021-1419dup (n.2021-1434_2021-1419dup)
c.320_335dup (p.Gly113IlefsTer32)
c.863_878dup (p.Gly294IlefsTer32)
c.89_104dup (p.Gly36IlefsTer32)
n.5526_5541dup
n.5567_5582dup
 dbSNP
17g.43049125_43049131delCA658761190BRCA1c.5394_5400del (p.Leu1799GlnfsTer?)
c.5397_5403del (p.Leu1800GlnfsTer?)
c.5271_5277del (p.Leu1758GlnfsTer?)
c.5391_5397del (p.Leu1798GlnfsTer?)
c.5319_5325del (p.Leu1774GlnfsTer?)
c.2085_2091del (p.Leu696GlnfsTer?)
c.1947_1953del (p.Leu650GlnfsTer?)
c.4509_4515del (p.Leu1504GlnfsTer?)
c.5274_5280del (p.Leu1759GlnfsTer?)
c.5463_5469del (p.Leu1822GlnfsTer?)
c.5256_5262del (p.Leu1753GlnfsTer?)
c.1959_1965del (p.Leu654GlnfsTer?)
n.1280_1286del
c.5460_5466del (p.Leu1821GlnfsTer?)
c.1784_1790del
c.1971_1977del (p.Leu658GlnfsTer?)
c.*5180_*5186del (n.*5180_*5186del)
c.2021-1427_2021-1421del (n.2021-1427_2021-1421del)
c.327_333del (p.Leu110GlnfsTer?)
c.870_876del (p.Leu291GlnfsTer?)
c.96_102del (p.Leu33GlnfsTer?)
n.5533_5539del
n.5574_5580del
17g.43049131delCA16620419BRCA1c.5395del (p.Gly1800AlafsTer?)
c.5398del (p.Gly1801AlafsTer?)
c.5272del (p.Gly1759AlafsTer?)
c.5392del (p.Gly1799AlafsTer?)
c.5320del (p.Gly1775AlafsTer?)
c.2086del (p.Gly697AlafsTer?)
c.1948del (p.Gly651AlafsTer?)
c.4510del (p.Gly1505AlafsTer?)
c.5275del (p.Gly1760AlafsTer?)
c.5464del (p.Gly1823AlafsTer?)
c.5257del (p.Gly1754AlafsTer?)
c.1960del (p.Gly655AlafsTer?)
n.1281del
c.5461del (p.Gly1822AlafsTer?)
c.1785del
c.1972del (p.Gly659AlafsTer?)
c.*5181del (n.*5181del)
c.2021-1426del (n.2021-1426del)
c.328del (p.Gly111AlafsTer?)
c.871del (p.Gly292AlafsTer?)
c.97del (p.Gly34AlafsTer?)
n.5534del
n.5575del
 ClinVar dbSNP
17g.43049129_43049157delinsGGGTGAATGATGAAAGCTCCTTCACCACACA2260762717BRCA1c.5367_5395delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1789=)
c.5370_5398delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1790=)
c.5244_5272delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1748=)
c.5364_5392delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1788=)
c.5292_5320delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1764=)
c.2058_2086delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser686=)
c.1920_1948delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser640=)
c.4482_4510delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1494=)
c.5247_5275delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1749=)
c.5436_5464delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1812=)
c.5229_5257delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1743=)
c.1932_1960delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser644=)
n.1253_1281delinsTGTGGTGAAGGAGCTTTCATCATTCACCC
c.5433_5461delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser1811=)
c.1757_1785delinsTGTGGTGAAGGAGCTTTCATCATTCACCC
c.1944_1972delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser648=)
c.*5153_*5181delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (n.*5153_*5181delinsTGTGGTGAAGGAGCTTTCATCATTCACCC)
c.2021-1454_2021-1426delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (n.2021-1454_2021-1426delinsTGTGGTGAAGGAGCTTTCATCATTCACCC)
c.300_328delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser100=)
c.843_871delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser281=)
c.69_97delinsTGTGGTGAAGGAGCTTTCATCATTCACCC (p.Ser23=)
n.5506_5534delinsTGTGGTGAAGGAGCTTTCATCATTCACCC
n.5547_5575delinsTGTGGTGAAGGAGCTTTCATCATTCACCC
17g.43049131_43049158delCA003538BRCA1c.5367_5394del (p.Val1790LeufsTer?)
c.5370_5397del (p.Val1791LeufsTer?)
c.5244_5271del (p.Val1749LeufsTer?)
c.5364_5391del (p.Val1789LeufsTer?)
c.5292_5319del (p.Val1765LeufsTer?)
c.2058_2085del (p.Val687LeufsTer?)
c.1920_1947del (p.Val641LeufsTer?)
c.4482_4509del (p.Val1495LeufsTer?)
c.5247_5274del (p.Val1750LeufsTer?)
c.5436_5463del (p.Val1813LeufsTer?)
c.5229_5256del (p.Val1744LeufsTer?)
c.1932_1959del (p.Val645LeufsTer?)
n.1253_1280del
c.5433_5460del (p.Val1812LeufsTer?)
c.1757_1784del
c.1944_1971del (p.Val649LeufsTer?)
c.*5153_*5180del (n.*5153_*5180del)
c.2021-1454_2021-1427del (n.2021-1454_2021-1427del)
c.300_327del (p.Val101LeufsTer?)
c.843_870del (p.Val282LeufsTer?)
c.69_96del (p.Val24LeufsTer?)
n.5506_5533del
n.5547_5574del
 ClinVar dbSNP
17g.43049131G>ACA003548BRCA1c.5393C>T (p.Thr1798Ile)
c.5396C>T (p.Thr1799Ile)
c.5270C>T (p.Thr1757Ile)
c.5390C>T (p.Thr1797Ile)
c.5318C>T (p.Thr1773Ile)
c.2084C>T (p.Thr695Ile)
c.1946C>T (p.Thr649Ile)
c.4508C>T (p.Thr1503Ile)
c.5273C>T (p.Thr1758Ile)
c.5462C>T (p.Thr1821Ile)
c.5255C>T (p.Thr1752Ile)
c.1958C>T (p.Thr653Ile)
n.1279C>T
c.5459C>T (p.Thr1820Ile)
c.1783C>T
c.1970C>T (p.Thr657Ile)
c.*5179C>T (n.*5179C>T)
c.2021-1428C>T (n.2021-1428C>T)
c.326C>T (p.Thr109Ile)
c.869C>T (p.Thr290Ile)
c.95C>T (p.Thr32Ile)
n.5532C>T
n.5573C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049131G>CCA10590682BRCA1c.5393C>G (p.Thr1798Ser)
c.5396C>G (p.Thr1799Ser)
c.5270C>G (p.Thr1757Ser)
c.5390C>G (p.Thr1797Ser)
c.5318C>G (p.Thr1773Ser)
c.2084C>G (p.Thr695Ser)
c.1946C>G (p.Thr649Ser)
c.4508C>G (p.Thr1503Ser)
c.5273C>G (p.Thr1758Ser)
c.5462C>G (p.Thr1821Ser)
c.5255C>G (p.Thr1752Ser)
c.1958C>G (p.Thr653Ser)
n.1279C>G
c.5459C>G (p.Thr1820Ser)
c.1783C>G
c.1970C>G (p.Thr657Ser)
c.*5179C>G (n.*5179C>G)
c.2021-1428C>G (n.2021-1428C>G)
c.326C>G (p.Thr109Ser)
c.869C>G (p.Thr290Ser)
c.95C>G (p.Thr32Ser)
n.5532C>G
n.5573C>G
 ClinVar dbSNP
17g.43049131G=CA2260762720BRCA1c.5393C= (p.Thr1798=)
c.5396C= (p.Thr1799=)
c.5270C= (p.Thr1757=)
c.5390C= (p.Thr1797=)
c.5318C= (p.Thr1773=)
c.2084C= (p.Thr695=)
c.1946C= (p.Thr649=)
c.4508C= (p.Thr1503=)
c.5273C= (p.Thr1758=)
c.5462C= (p.Thr1821=)
c.5255C= (p.Thr1752=)
c.1958C= (p.Thr653=)
n.1279C=
c.5459C= (p.Thr1820=)
c.1783C=
c.1970C= (p.Thr657=)
c.*5179C= (n.*5179C=)
c.2021-1428C= (n.2021-1428C=)
c.326C= (p.Thr109=)
c.869C= (p.Thr290=)
c.95C= (p.Thr32=)
n.5532C=
n.5573C=
17g.43049131G>TCA10590683BRCA1c.5393C>A (p.Thr1798Asn)
c.5396C>A (p.Thr1799Asn)
c.5270C>A (p.Thr1757Asn)
c.5390C>A (p.Thr1797Asn)
c.5318C>A (p.Thr1773Asn)
c.2084C>A (p.Thr695Asn)
c.1946C>A (p.Thr649Asn)
c.4508C>A (p.Thr1503Asn)
c.5273C>A (p.Thr1758Asn)
c.5462C>A (p.Thr1821Asn)
c.5255C>A (p.Thr1752Asn)
c.1958C>A (p.Thr653Asn)
n.1279C>A
c.5459C>A (p.Thr1820Asn)
c.1783C>A
c.1970C>A (p.Thr657Asn)
c.*5179C>A (n.*5179C>A)
c.2021-1428C>A (n.2021-1428C>A)
c.326C>A (p.Thr109Asn)
c.869C>A (p.Thr290Asn)
c.95C>A (p.Thr32Asn)
n.5532C>A
n.5573C>A
 ClinVar dbSNP
17g.43049132T>ACA10590684BRCA1c.5392A>T (p.Thr1798Ser)
c.5395A>T (p.Thr1799Ser)
c.5269A>T (p.Thr1757Ser)
c.5389A>T (p.Thr1797Ser)
c.5317A>T (p.Thr1773Ser)
c.2083A>T (p.Thr695Ser)
c.1945A>T (p.Thr649Ser)
c.4507A>T (p.Thr1503Ser)
c.5272A>T (p.Thr1758Ser)
c.5461A>T (p.Thr1821Ser)
c.5254A>T (p.Thr1752Ser)
c.1957A>T (p.Thr653Ser)
n.1278A>T
c.5458A>T (p.Thr1820Ser)
c.1782A>T
c.1969A>T (p.Thr657Ser)
c.*5178A>T (n.*5178A>T)
c.2021-1429A>T (n.2021-1429A>T)
c.325A>T (p.Thr109Ser)
c.868A>T (p.Thr290Ser)
c.94A>T (p.Thr32Ser)
n.5531A>T
n.5572A>T
 ClinVar dbSNP
17g.43049132T>CCA10590685BRCA1c.5392A>G (p.Thr1798Ala)
c.5395A>G (p.Thr1799Ala)
c.5269A>G (p.Thr1757Ala)
c.5389A>G (p.Thr1797Ala)
c.5317A>G (p.Thr1773Ala)
c.2083A>G (p.Thr695Ala)
c.1945A>G (p.Thr649Ala)
c.4507A>G (p.Thr1503Ala)
c.5272A>G (p.Thr1758Ala)
c.5461A>G (p.Thr1821Ala)
c.5254A>G (p.Thr1752Ala)
c.1957A>G (p.Thr653Ala)
n.1278A>G
c.5458A>G (p.Thr1820Ala)
c.1782A>G
c.1969A>G (p.Thr657Ala)
c.*5178A>G (n.*5178A>G)
c.2021-1429A>G (n.2021-1429A>G)
c.325A>G (p.Thr109Ala)
c.868A>G (p.Thr290Ala)
c.94A>G (p.Thr32Ala)
n.5531A>G
n.5572A>G
 ClinVar dbSNP gnomAD v4
17g.43049132T>GCA10590686BRCA1c.5392A>C (p.Thr1798Pro)
c.5395A>C (p.Thr1799Pro)
c.5269A>C (p.Thr1757Pro)
c.5389A>C (p.Thr1797Pro)
c.5317A>C (p.Thr1773Pro)
c.2083A>C (p.Thr695Pro)
c.1945A>C (p.Thr649Pro)
c.4507A>C (p.Thr1503Pro)
c.5272A>C (p.Thr1758Pro)
c.5461A>C (p.Thr1821Pro)
c.5254A>C (p.Thr1752Pro)
c.1957A>C (p.Thr653Pro)
n.1278A>C
c.5458A>C (p.Thr1820Pro)
c.1782A>C
c.1969A>C (p.Thr657Pro)
c.*5178A>C (n.*5178A>C)
c.2021-1429A>C (n.2021-1429A>C)
c.325A>C (p.Thr109Pro)
c.868A>C (p.Thr290Pro)
c.94A>C (p.Thr32Pro)
n.5531A>C
n.5572A>C
 ClinVar dbSNP
17g.43049132T=CA2260762721BRCA1c.5392A= (p.Thr1798=)
c.5395A= (p.Thr1799=)
c.5269A= (p.Thr1757=)
c.5389A= (p.Thr1797=)
c.5317A= (p.Thr1773=)
c.2083A= (p.Thr695=)
c.1945A= (p.Thr649=)
c.4507A= (p.Thr1503=)
c.5272A= (p.Thr1758=)
c.5461A= (p.Thr1821=)
c.5254A= (p.Thr1752=)
c.1957A= (p.Thr653=)
n.1278A=
c.5458A= (p.Thr1820=)
c.1782A=
c.1969A= (p.Thr657=)
c.*5178A= (n.*5178A=)
c.2021-1429A= (n.2021-1429A=)
c.325A= (p.Thr109=)
c.868A= (p.Thr290=)
c.94A= (p.Thr32=)
n.5531A=
n.5572A=
17g.43049133G>ACA054819BRCA1c.5391C>T (p.Phe1797=)
c.5394C>T (p.Phe1798=)
c.5268C>T (p.Phe1756=)
c.5388C>T (p.Phe1796=)
c.5316C>T (p.Phe1772=)
c.2082C>T (p.Phe694=)
c.1944C>T (p.Phe648=)
c.4506C>T (p.Phe1502=)
c.5271C>T (p.Phe1757=)
c.5460C>T (p.Phe1820=)
c.5253C>T (p.Phe1751=)
c.1956C>T (p.Phe652=)
n.1277C>T
c.5457C>T (p.Phe1819=)
c.1781C>T
c.1968C>T (p.Phe656=)
c.*5177C>T (n.*5177C>T)
c.2021-1430C>T (n.2021-1430C>T)
c.324C>T (p.Phe108=)
c.867C>T (p.Phe289=)
c.93C>T (p.Phe31=)
n.5530C>T
n.5571C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049133G>CCA10590687BRCA1c.5391C>G (p.Phe1797Leu)
c.5394C>G (p.Phe1798Leu)
c.5268C>G (p.Phe1756Leu)
c.5388C>G (p.Phe1796Leu)
c.5316C>G (p.Phe1772Leu)
c.2082C>G (p.Phe694Leu)
c.1944C>G (p.Phe648Leu)
c.4506C>G (p.Phe1502Leu)
c.5271C>G (p.Phe1757Leu)
c.5460C>G (p.Phe1820Leu)
c.5253C>G (p.Phe1751Leu)
c.1956C>G (p.Phe652Leu)
n.1277C>G
c.5457C>G (p.Phe1819Leu)
c.1781C>G
c.1968C>G (p.Phe656Leu)
c.*5177C>G (n.*5177C>G)
c.2021-1430C>G (n.2021-1430C>G)
c.324C>G (p.Phe108Leu)
c.867C>G (p.Phe289Leu)
c.93C>G (p.Phe31Leu)
n.5530C>G
n.5571C>G
 ClinVar dbSNP
17g.43049133G=CA2260762722BRCA1c.5391C= (p.Phe1797=)
c.5394C= (p.Phe1798=)
c.5268C= (p.Phe1756=)
c.5388C= (p.Phe1796=)
c.5316C= (p.Phe1772=)
c.2082C= (p.Phe694=)
c.1944C= (p.Phe648=)
c.4506C= (p.Phe1502=)
c.5271C= (p.Phe1757=)
c.5460C= (p.Phe1820=)
c.5253C= (p.Phe1751=)
c.1956C= (p.Phe652=)
n.1277C=
c.5457C= (p.Phe1819=)
c.1781C=
c.1968C= (p.Phe656=)
c.*5177C= (n.*5177C=)
c.2021-1430C= (n.2021-1430C=)
c.324C= (p.Phe108=)
c.867C= (p.Phe289=)
c.93C= (p.Phe31=)
n.5530C=
n.5571C=
17g.43049133G>TCA10590688BRCA1c.5391C>A (p.Phe1797Leu)
c.5394C>A (p.Phe1798Leu)
c.5268C>A (p.Phe1756Leu)
c.5388C>A (p.Phe1796Leu)
c.5316C>A (p.Phe1772Leu)
c.2082C>A (p.Phe694Leu)
c.1944C>A (p.Phe648Leu)
c.4506C>A (p.Phe1502Leu)
c.5271C>A (p.Phe1757Leu)
c.5460C>A (p.Phe1820Leu)
c.5253C>A (p.Phe1751Leu)
c.1956C>A (p.Phe652Leu)
n.1277C>A
c.5457C>A (p.Phe1819Leu)
c.1781C>A
c.1968C>A (p.Phe656Leu)
c.*5177C>A (n.*5177C>A)
c.2021-1430C>A (n.2021-1430C>A)
c.324C>A (p.Phe108Leu)
c.867C>A (p.Phe289Leu)
c.93C>A (p.Phe31Leu)
n.5530C>A
n.5571C>A
 ClinVar dbSNP
17g.43049134A=CA2260762723BRCA1c.5390T= (p.Phe1797=)
c.5393T= (p.Phe1798=)
c.5267T= (p.Phe1756=)
c.5387T= (p.Phe1796=)
c.5315T= (p.Phe1772=)
c.2081T= (p.Phe694=)
c.1943T= (p.Phe648=)
c.4505T= (p.Phe1502=)
c.5270T= (p.Phe1757=)
c.5459T= (p.Phe1820=)
c.5252T= (p.Phe1751=)
c.1955T= (p.Phe652=)
n.1276T=
c.5456T= (p.Phe1819=)
c.1780T=
c.1967T= (p.Phe656=)
c.*5176T= (n.*5176T=)
c.2021-1431T= (n.2021-1431T=)
c.323T= (p.Phe108=)
c.866T= (p.Phe289=)
c.92T= (p.Phe31=)
n.5529T=
n.5570T=
17g.43049134A>CCA10590689BRCA1c.5390T>G (p.Phe1797Cys)
c.5393T>G (p.Phe1798Cys)
c.5267T>G (p.Phe1756Cys)
c.5387T>G (p.Phe1796Cys)
c.5315T>G (p.Phe1772Cys)
c.2081T>G (p.Phe694Cys)
c.1943T>G (p.Phe648Cys)
c.4505T>G (p.Phe1502Cys)
c.5270T>G (p.Phe1757Cys)
c.5459T>G (p.Phe1820Cys)
c.5252T>G (p.Phe1751Cys)
c.1955T>G (p.Phe652Cys)
n.1276T>G
c.5456T>G (p.Phe1819Cys)
c.1780T>G
c.1967T>G (p.Phe656Cys)
c.*5176T>G (n.*5176T>G)
c.2021-1431T>G (n.2021-1431T>G)
c.323T>G (p.Phe108Cys)
c.866T>G (p.Phe289Cys)
c.92T>G (p.Phe31Cys)
n.5529T>G
n.5570T>G
 ClinVar dbSNP
17g.43049134A>GCA10590690BRCA1c.5390T>C (p.Phe1797Ser)
c.5393T>C (p.Phe1798Ser)
c.5267T>C (p.Phe1756Ser)
c.5387T>C (p.Phe1796Ser)
c.5315T>C (p.Phe1772Ser)
c.2081T>C (p.Phe694Ser)
c.1943T>C (p.Phe648Ser)
c.4505T>C (p.Phe1502Ser)
c.5270T>C (p.Phe1757Ser)
c.5459T>C (p.Phe1820Ser)
c.5252T>C (p.Phe1751Ser)
c.1955T>C (p.Phe652Ser)
n.1276T>C
c.5456T>C (p.Phe1819Ser)
c.1780T>C
c.1967T>C (p.Phe656Ser)
c.*5176T>C (n.*5176T>C)
c.2021-1431T>C (n.2021-1431T>C)
c.323T>C (p.Phe108Ser)
c.866T>C (p.Phe289Ser)
c.92T>C (p.Phe31Ser)
n.5529T>C
n.5570T>C
 ClinVar dbSNP
17g.43049134A>TCA10590691BRCA1c.5390T>A (p.Phe1797Tyr)
c.5393T>A (p.Phe1798Tyr)
c.5267T>A (p.Phe1756Tyr)
c.5387T>A (p.Phe1796Tyr)
c.5315T>A (p.Phe1772Tyr)
c.2081T>A (p.Phe694Tyr)
c.1943T>A (p.Phe648Tyr)
c.4505T>A (p.Phe1502Tyr)
c.5270T>A (p.Phe1757Tyr)
c.5459T>A (p.Phe1820Tyr)
c.5252T>A (p.Phe1751Tyr)
c.1955T>A (p.Phe652Tyr)
n.1276T>A
c.5456T>A (p.Phe1819Tyr)
c.1780T>A
c.1967T>A (p.Phe656Tyr)
c.*5176T>A (n.*5176T>A)
c.2021-1431T>A (n.2021-1431T>A)
c.323T>A (p.Phe108Tyr)
c.866T>A (p.Phe289Tyr)
c.92T>A (p.Phe31Tyr)
n.5529T>A
n.5570T>A
 ClinVar dbSNP
17g.43049135A=CA2260762724BRCA1c.5389T= (p.Phe1797=)
c.5392T= (p.Phe1798=)
c.5266T= (p.Phe1756=)
c.5386T= (p.Phe1796=)
c.5314T= (p.Phe1772=)
c.2080T= (p.Phe694=)
c.1942T= (p.Phe648=)
c.4504T= (p.Phe1502=)
c.5269T= (p.Phe1757=)
c.5458T= (p.Phe1820=)
c.5251T= (p.Phe1751=)
c.1954T= (p.Phe652=)
n.1275T=
c.5455T= (p.Phe1819=)
c.1779T=
c.1966T= (p.Phe656=)
c.*5175T= (n.*5175T=)
c.2021-1432T= (n.2021-1432T=)
c.322T= (p.Phe108=)
c.865T= (p.Phe289=)
c.91T= (p.Phe31=)
n.5528T=
n.5569T=
17g.43049135A>CCA10590692BRCA1c.5389T>G (p.Phe1797Val)
c.5392T>G (p.Phe1798Val)
c.5266T>G (p.Phe1756Val)
c.5386T>G (p.Phe1796Val)
c.5314T>G (p.Phe1772Val)
c.2080T>G (p.Phe694Val)
c.1942T>G (p.Phe648Val)
c.4504T>G (p.Phe1502Val)
c.5269T>G (p.Phe1757Val)
c.5458T>G (p.Phe1820Val)
c.5251T>G (p.Phe1751Val)
c.1954T>G (p.Phe652Val)
n.1275T>G
c.5455T>G (p.Phe1819Val)
c.1779T>G
c.1966T>G (p.Phe656Val)
c.*5175T>G (n.*5175T>G)
c.2021-1432T>G (n.2021-1432T>G)
c.322T>G (p.Phe108Val)
c.865T>G (p.Phe289Val)
c.91T>G (p.Phe31Val)
n.5528T>G
n.5569T>G
 ClinVar dbSNP
17g.43049135A>GCA10590693BRCA1c.5389T>C (p.Phe1797Leu)
c.5392T>C (p.Phe1798Leu)
c.5266T>C (p.Phe1756Leu)
c.5386T>C (p.Phe1796Leu)
c.5314T>C (p.Phe1772Leu)
c.2080T>C (p.Phe694Leu)
c.1942T>C (p.Phe648Leu)
c.4504T>C (p.Phe1502Leu)
c.5269T>C (p.Phe1757Leu)
c.5458T>C (p.Phe1820Leu)
c.5251T>C (p.Phe1751Leu)
c.1954T>C (p.Phe652Leu)
n.1275T>C
c.5455T>C (p.Phe1819Leu)
c.1779T>C
c.1966T>C (p.Phe656Leu)
c.*5175T>C (n.*5175T>C)
c.2021-1432T>C (n.2021-1432T>C)
c.322T>C (p.Phe108Leu)
c.865T>C (p.Phe289Leu)
c.91T>C (p.Phe31Leu)
n.5528T>C
n.5569T>C
 ClinVar dbSNP
17g.43049135A>TCA10590694BRCA1c.5389T>A (p.Phe1797Ile)
c.5392T>A (p.Phe1798Ile)
c.5266T>A (p.Phe1756Ile)
c.5386T>A (p.Phe1796Ile)
c.5314T>A (p.Phe1772Ile)
c.2080T>A (p.Phe694Ile)
c.1942T>A (p.Phe648Ile)
c.4504T>A (p.Phe1502Ile)
c.5269T>A (p.Phe1757Ile)
c.5458T>A (p.Phe1820Ile)
c.5251T>A (p.Phe1751Ile)
c.1954T>A (p.Phe652Ile)
n.1275T>A
c.5455T>A (p.Phe1819Ile)
c.1779T>A
c.1966T>A (p.Phe656Ile)
c.*5175T>A (n.*5175T>A)
c.2021-1432T>A (n.2021-1432T>A)
c.322T>A (p.Phe108Ile)
c.865T>A (p.Phe289Ile)
c.91T>A (p.Phe31Ile)
n.5528T>A
n.5569T>A
 ClinVar dbSNP
17g.43049135_43049136delinsATCA2260762725BRCA1c.5388_5389delinsAT (p.Ser1796=)
c.5391_5392delinsAT (p.Ser1797=)
c.5265_5266delinsAT (p.Ser1755=)
c.5385_5386delinsAT (p.Ser1795=)
c.5313_5314delinsAT (p.Ser1771=)
c.2079_2080delinsAT (p.Ser693=)
c.1941_1942delinsAT (p.Ser647=)
c.4503_4504delinsAT (p.Ser1501=)
c.5268_5269delinsAT (p.Ser1756=)
c.5457_5458delinsAT (p.Ser1819=)
c.5250_5251delinsAT (p.Ser1750=)
c.1953_1954delinsAT (p.Ser651=)
n.1274_1275delinsAT
c.5454_5455delinsAT (p.Ser1818=)
c.1778_1779delinsAT
c.1965_1966delinsAT (p.Ser655=)
c.*5174_*5175delinsAT (n.*5174_*5175delinsAT)
c.2021-1433_2021-1432delinsAT (n.2021-1433_2021-1432delinsAT)
c.321_322delinsAT (p.Ser107=)
c.864_865delinsAT (p.Ser288=)
c.90_91delinsAT (p.Ser30=)
n.5527_5528delinsAT
n.5568_5569delinsAT
17g.43049136delCA054811BRCA1c.5388del (p.Phe1797SerfsTer?)
c.5391del (p.Phe1798SerfsTer?)
c.5265del (p.Phe1756SerfsTer?)
c.5385del (p.Phe1796SerfsTer?)
c.5313del (p.Phe1772SerfsTer?)
c.2079del (p.Phe694SerfsTer?)
c.1941del (p.Phe648SerfsTer?)
c.4503del (p.Phe1502SerfsTer?)
c.5268del (p.Phe1757SerfsTer?)
c.5457del (p.Phe1820SerfsTer?)
c.5250del (p.Phe1751SerfsTer?)
c.1953del (p.Phe652SerfsTer?)
n.1274del
c.5454del (p.Phe1819SerfsTer?)
c.1778del
c.1965del (p.Phe656SerfsTer?)
c.*5174del (n.*5174del)
c.2021-1433del (n.2021-1433del)
c.321del (p.Phe108SerfsTer?)
c.864del (p.Phe289SerfsTer?)
c.90del (p.Phe31SerfsTer?)
n.5527del
n.5568del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049136T>ACA500143283BRCA1c.5388A>T (p.Ser1796=)
c.5391A>T (p.Ser1797=)
c.5265A>T (p.Ser1755=)
c.5385A>T (p.Ser1795=)
c.5313A>T (p.Ser1771=)
c.2079A>T (p.Ser693=)
c.1941A>T (p.Ser647=)
c.4503A>T (p.Ser1501=)
c.5268A>T (p.Ser1756=)
c.5457A>T (p.Ser1819=)
c.5250A>T (p.Ser1750=)
c.1953A>T (p.Ser651=)
n.1274A>T
c.5454A>T (p.Ser1818=)
c.1778A>T
c.1965A>T (p.Ser655=)
c.*5174A>T (n.*5174A>T)
c.2021-1433A>T (n.2021-1433A>T)
c.321A>T (p.Ser107=)
c.864A>T (p.Ser288=)
c.90A>T (p.Ser30=)
n.5527A>T
n.5568A>T
 ClinVar dbSNP
17g.43049136T>CCA500143284BRCA1c.5388A>G (p.Ser1796=)
c.5391A>G (p.Ser1797=)
c.5265A>G (p.Ser1755=)
c.5385A>G (p.Ser1795=)
c.5313A>G (p.Ser1771=)
c.2079A>G (p.Ser693=)
c.1941A>G (p.Ser647=)
c.4503A>G (p.Ser1501=)
c.5268A>G (p.Ser1756=)
c.5457A>G (p.Ser1819=)
c.5250A>G (p.Ser1750=)
c.1953A>G (p.Ser651=)
n.1274A>G
c.5454A>G (p.Ser1818=)
c.1778A>G
c.1965A>G (p.Ser655=)
c.*5174A>G (n.*5174A>G)
c.2021-1433A>G (n.2021-1433A>G)
c.321A>G (p.Ser107=)
c.864A>G (p.Ser288=)
c.90A>G (p.Ser30=)
n.5527A>G
n.5568A>G
 ClinVar dbSNP
17g.43049136T>GCA500143285BRCA1c.5388A>C (p.Ser1796=)
c.5391A>C (p.Ser1797=)
c.5265A>C (p.Ser1755=)
c.5385A>C (p.Ser1795=)
c.5313A>C (p.Ser1771=)
c.2079A>C (p.Ser693=)
c.1941A>C (p.Ser647=)
c.4503A>C (p.Ser1501=)
c.5268A>C (p.Ser1756=)
c.5457A>C (p.Ser1819=)
c.5250A>C (p.Ser1750=)
c.1953A>C (p.Ser651=)
n.1274A>C
c.5454A>C (p.Ser1818=)
c.1778A>C
c.1965A>C (p.Ser655=)
c.*5174A>C (n.*5174A>C)
c.2021-1433A>C (n.2021-1433A>C)
c.321A>C (p.Ser107=)
c.864A>C (p.Ser288=)
c.90A>C (p.Ser30=)
n.5527A>C
n.5568A>C
 ClinVar dbSNP
17g.43049136T=CA2260762726BRCA1c.5388A= (p.Ser1796=)
c.5391A= (p.Ser1797=)
c.5265A= (p.Ser1755=)
c.5385A= (p.Ser1795=)
c.5313A= (p.Ser1771=)
c.2079A= (p.Ser693=)
c.1941A= (p.Ser647=)
c.4503A= (p.Ser1501=)
c.5268A= (p.Ser1756=)
c.5457A= (p.Ser1819=)
c.5250A= (p.Ser1750=)
c.1953A= (p.Ser651=)
n.1274A=
c.5454A= (p.Ser1818=)
c.1778A=
c.1965A= (p.Ser655=)
c.*5174A= (n.*5174A=)
c.2021-1433A= (n.2021-1433A=)
c.321A= (p.Ser107=)
c.864A= (p.Ser288=)
c.90A= (p.Ser30=)
n.5527A=
n.5568A=
17g.43049137G>ACA10586114BRCA1c.5387C>T (p.Ser1796Leu)
c.5390C>T (p.Ser1797Leu)
c.5264C>T (p.Ser1755Leu)
c.5384C>T (p.Ser1795Leu)
c.5312C>T (p.Ser1771Leu)
c.2078C>T (p.Ser693Leu)
c.1940C>T (p.Ser647Leu)
c.4502C>T (p.Ser1501Leu)
c.5267C>T (p.Ser1756Leu)
c.5456C>T (p.Ser1819Leu)
c.5249C>T (p.Ser1750Leu)
c.1952C>T (p.Ser651Leu)
n.1273C>T
c.5453C>T (p.Ser1818Leu)
c.1777C>T
c.1964C>T (p.Ser655Leu)
c.*5173C>T (n.*5173C>T)
c.2021-1434C>T (n.2021-1434C>T)
c.320C>T (p.Ser107Leu)
c.863C>T (p.Ser288Leu)
c.89C>T (p.Ser30Leu)
n.5526C>T
n.5567C>T
 ClinVar dbSNP
17g.43049137G>CCA10589592BRCA1c.5387C>G (p.Ser1796Ter)
c.5390C>G (p.Ser1797Ter)
c.5264C>G (p.Ser1755Ter)
c.5384C>G (p.Ser1795Ter)
c.5312C>G (p.Ser1771Ter)
c.2078C>G (p.Ser693Ter)
c.1940C>G (p.Ser647Ter)
c.4502C>G (p.Ser1501Ter)
c.5267C>G (p.Ser1756Ter)
c.5456C>G (p.Ser1819Ter)
c.5249C>G (p.Ser1750Ter)
c.1952C>G (p.Ser651Ter)
n.1273C>G
c.5453C>G (p.Ser1818Ter)
c.1777C>G
c.1964C>G (p.Ser655Ter)
c.*5173C>G (n.*5173C>G)
c.2021-1434C>G (n.2021-1434C>G)
c.320C>G (p.Ser107Ter)
c.863C>G (p.Ser288Ter)
c.89C>G (p.Ser30Ter)
n.5526C>G
n.5567C>G
 ClinVar dbSNP
17g.43049137G=CA2260762727BRCA1c.5387C= (p.Ser1796=)
c.5390C= (p.Ser1797=)
c.5264C= (p.Ser1755=)
c.5384C= (p.Ser1795=)
c.5312C= (p.Ser1771=)
c.2078C= (p.Ser693=)
c.1940C= (p.Ser647=)
c.4502C= (p.Ser1501=)
c.5267C= (p.Ser1756=)
c.5456C= (p.Ser1819=)
c.5249C= (p.Ser1750=)
c.1952C= (p.Ser651=)
n.1273C=
c.5453C= (p.Ser1818=)
c.1777C=
c.1964C= (p.Ser655=)
c.*5173C= (n.*5173C=)
c.2021-1434C= (n.2021-1434C=)
c.320C= (p.Ser107=)
c.863C= (p.Ser288=)
c.89C= (p.Ser30=)
n.5526C=
n.5567C=
17g.43049137G>TCA10590695BRCA1c.5387C>A (p.Ser1796Ter)
c.5390C>A (p.Ser1797Ter)
c.5264C>A (p.Ser1755Ter)
c.5384C>A (p.Ser1795Ter)
c.5312C>A (p.Ser1771Ter)
c.2078C>A (p.Ser693Ter)
c.1940C>A (p.Ser647Ter)
c.4502C>A (p.Ser1501Ter)
c.5267C>A (p.Ser1756Ter)
c.5456C>A (p.Ser1819Ter)
c.5249C>A (p.Ser1750Ter)
c.1952C>A (p.Ser651Ter)
n.1273C>A
c.5453C>A (p.Ser1818Ter)
c.1777C>A
c.1964C>A (p.Ser655Ter)
c.*5173C>A (n.*5173C>A)
c.2021-1434C>A (n.2021-1434C>A)
c.320C>A (p.Ser107Ter)
c.863C>A (p.Ser288Ter)
c.89C>A (p.Ser30Ter)
n.5526C>A
n.5567C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43049138A=CA2260762728BRCA1c.5386T= (p.Ser1796=)
c.5389T= (p.Ser1797=)
c.5263T= (p.Ser1755=)
c.5383T= (p.Ser1795=)
c.5311T= (p.Ser1771=)
c.2077T= (p.Ser693=)
c.1939T= (p.Ser647=)
c.4501T= (p.Ser1501=)
c.5266T= (p.Ser1756=)
c.5455T= (p.Ser1819=)
c.5248T= (p.Ser1750=)
c.1951T= (p.Ser651=)
n.1272T=
c.5452T= (p.Ser1818=)
c.1776T=
c.1963T= (p.Ser655=)
c.*5172T= (n.*5172T=)
c.2021-1435T= (n.2021-1435T=)
c.319T= (p.Ser107=)
c.862T= (p.Ser288=)
c.88T= (p.Ser30=)
n.5525T=
n.5566T=
17g.43049138A>CCA10590696BRCA1c.5386T>G (p.Ser1796Ala)
c.5389T>G (p.Ser1797Ala)
c.5263T>G (p.Ser1755Ala)
c.5383T>G (p.Ser1795Ala)
c.5311T>G (p.Ser1771Ala)
c.2077T>G (p.Ser693Ala)
c.1939T>G (p.Ser647Ala)
c.4501T>G (p.Ser1501Ala)
c.5266T>G (p.Ser1756Ala)
c.5455T>G (p.Ser1819Ala)
c.5248T>G (p.Ser1750Ala)
c.1951T>G (p.Ser651Ala)
n.1272T>G
c.5452T>G (p.Ser1818Ala)
c.1776T>G
c.1963T>G (p.Ser655Ala)
c.*5172T>G (n.*5172T>G)
c.2021-1435T>G (n.2021-1435T>G)
c.319T>G (p.Ser107Ala)
c.862T>G (p.Ser288Ala)
c.88T>G (p.Ser30Ala)
n.5525T>G
n.5566T>G
 ClinVar dbSNP
17g.43049138A>GCA10590697BRCA1c.5386T>C (p.Ser1796Pro)
c.5389T>C (p.Ser1797Pro)
c.5263T>C (p.Ser1755Pro)
c.5383T>C (p.Ser1795Pro)
c.5311T>C (p.Ser1771Pro)
c.2077T>C (p.Ser693Pro)
c.1939T>C (p.Ser647Pro)
c.4501T>C (p.Ser1501Pro)
c.5266T>C (p.Ser1756Pro)
c.5455T>C (p.Ser1819Pro)
c.5248T>C (p.Ser1750Pro)
c.1951T>C (p.Ser651Pro)
n.1272T>C
c.5452T>C (p.Ser1818Pro)
c.1776T>C
c.1963T>C (p.Ser655Pro)
c.*5172T>C (n.*5172T>C)
c.2021-1435T>C (n.2021-1435T>C)
c.319T>C (p.Ser107Pro)
c.862T>C (p.Ser288Pro)
c.88T>C (p.Ser30Pro)
n.5525T>C
n.5566T>C
 ClinVar dbSNP
17g.43049138A>TCA10590698BRCA1c.5386T>A (p.Ser1796Thr)
c.5389T>A (p.Ser1797Thr)
c.5263T>A (p.Ser1755Thr)
c.5383T>A (p.Ser1795Thr)
c.5311T>A (p.Ser1771Thr)
c.2077T>A (p.Ser693Thr)
c.1939T>A (p.Ser647Thr)
c.4501T>A (p.Ser1501Thr)
c.5266T>A (p.Ser1756Thr)
c.5455T>A (p.Ser1819Thr)
c.5248T>A (p.Ser1750Thr)
c.1951T>A (p.Ser651Thr)
n.1272T>A
c.5452T>A (p.Ser1818Thr)
c.1776T>A
c.1963T>A (p.Ser655Thr)
c.*5172T>A (n.*5172T>A)
c.2021-1435T>A (n.2021-1435T>A)
c.319T>A (p.Ser107Thr)
c.862T>A (p.Ser288Thr)
c.88T>A (p.Ser30Thr)
n.5525T>A
n.5566T>A
 ClinVar dbSNP
17g.43049138dupCA10589593BRCA1c.5386dup (p.Ser1796PhefsTer?)
c.5389dup (p.Ser1797PhefsTer?)
c.5263dup (p.Ser1755PhefsTer?)
c.5383dup (p.Ser1795PhefsTer?)
c.5311dup (p.Ser1771PhefsTer?)
c.2077dup (p.Ser693PhefsTer?)
c.1939dup (p.Ser647PhefsTer?)
c.4501dup (p.Ser1501PhefsTer?)
c.5266dup (p.Ser1756PhefsTer?)
c.5455dup (p.Ser1819PhefsTer?)
c.5248dup (p.Ser1750PhefsTer?)
c.1951dup (p.Ser651PhefsTer?)
n.1272dup
c.5452dup (p.Ser1818PhefsTer?)
c.1776dup
c.1963dup (p.Ser655PhefsTer?)
c.*5172dup (n.*5172dup)
c.2021-1435dup (n.2021-1435dup)
c.319dup (p.Ser107PhefsTer?)
c.862dup (p.Ser288PhefsTer?)
c.88dup (p.Ser30PhefsTer?)
n.5525dup
n.5566dup
 ClinVar dbSNP
17g.43049139T>ACA500143286BRCA1c.5385A>T (p.Ser1795=)
c.5388A>T (p.Ser1796=)
c.5262A>T (p.Ser1754=)
c.5382A>T (p.Ser1794=)
c.5310A>T (p.Ser1770=)
c.2076A>T (p.Ser692=)
c.1938A>T (p.Ser646=)
c.4500A>T (p.Ser1500=)
c.5265A>T (p.Ser1755=)
c.5454A>T (p.Ser1818=)
c.5247A>T (p.Ser1749=)
c.1950A>T (p.Ser650=)
n.1271A>T
c.5451A>T (p.Ser1817=)
c.1775A>T
c.1962A>T (p.Ser654=)
c.*5171A>T (n.*5171A>T)
c.2021-1436A>T (n.2021-1436A>T)
c.318A>T (p.Ser106=)
c.861A>T (p.Ser287=)
c.87A>T (p.Ser29=)
n.5524A>T
n.5565A>T
 ClinVar dbSNP
17g.43049139T>CCA003547BRCA1c.5385A>G (p.Ser1795=)
c.5388A>G (p.Ser1796=)
c.5262A>G (p.Ser1754=)
c.5382A>G (p.Ser1794=)
c.5310A>G (p.Ser1770=)
c.2076A>G (p.Ser692=)
c.1938A>G (p.Ser646=)
c.4500A>G (p.Ser1500=)
c.5265A>G (p.Ser1755=)
c.5454A>G (p.Ser1818=)
c.5247A>G (p.Ser1749=)
c.1950A>G (p.Ser650=)
n.1271A>G
c.5451A>G (p.Ser1817=)
c.1775A>G
c.1962A>G (p.Ser654=)
c.*5171A>G (n.*5171A>G)
c.2021-1436A>G (n.2021-1436A>G)
c.318A>G (p.Ser106=)
c.861A>G (p.Ser287=)
c.87A>G (p.Ser29=)
n.5524A>G
n.5565A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049139T>GCA500143287BRCA1c.5385A>C (p.Ser1795=)
c.5388A>C (p.Ser1796=)
c.5262A>C (p.Ser1754=)
c.5382A>C (p.Ser1794=)
c.5310A>C (p.Ser1770=)
c.2076A>C (p.Ser692=)
c.1938A>C (p.Ser646=)
c.4500A>C (p.Ser1500=)
c.5265A>C (p.Ser1755=)
c.5454A>C (p.Ser1818=)
c.5247A>C (p.Ser1749=)
c.1950A>C (p.Ser650=)
n.1271A>C
c.5451A>C (p.Ser1817=)
c.1775A>C
c.1962A>C (p.Ser654=)
c.*5171A>C (n.*5171A>C)
c.2021-1436A>C (n.2021-1436A>C)
c.318A>C (p.Ser106=)
c.861A>C (p.Ser287=)
c.87A>C (p.Ser29=)
n.5524A>C
n.5565A>C
 ClinVar dbSNP
17g.43049139T=CA2260762729BRCA1c.5385A= (p.Ser1795=)
c.5388A= (p.Ser1796=)
c.5262A= (p.Ser1754=)
c.5382A= (p.Ser1794=)
c.5310A= (p.Ser1770=)
c.2076A= (p.Ser692=)
c.1938A= (p.Ser646=)
c.4500A= (p.Ser1500=)
c.5265A= (p.Ser1755=)
c.5454A= (p.Ser1818=)
c.5247A= (p.Ser1749=)
c.1950A= (p.Ser650=)
n.1271A=
c.5451A= (p.Ser1817=)
c.1775A=
c.1962A= (p.Ser654=)
c.*5171A= (n.*5171A=)
c.2021-1436A= (n.2021-1436A=)
c.318A= (p.Ser106=)
c.861A= (p.Ser287=)
c.87A= (p.Ser29=)
n.5524A=
n.5565A=
17g.43049139_43049392delinsTGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTACCA2260762730BRCA1c.5330-198_5385delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5333-198_5388delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5207-198_5262delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5327-198_5382delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5255-198_5310delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.2021-198_2076delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.1883-198_1938delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.4445-198_4500delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5210-198_5265delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5399-198_5454delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5192-198_5247delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.1895-198_1950delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
n.1018_1271delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.5396-198_5451delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.1720-198_1775delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.1907-198_1962delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.*5116-198_*5171delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.2020+1671_2021-1436delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA (n.2020+1671_2021-1436delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA)
c.263-198_318delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.806-198_861delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
c.32-198_87delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
n.5469-198_5524delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
n.5510-198_5565delinsGTACATGGCATATCAGTGGCAAATTGACTTAAAATCCATACCCCTACTATTTTAAGACCATTGTCCTTTGGAGCAGAGAGACAGACTCTCCCATTGAGAGGTCTTGCTATAAGCCTTCATCCGGAGAGTGTAGGGTAGAGGGCCTGGGTTAAGTATGCAGATTACTGCAGTGATTTTACATCTAAATGTCCATTTTAGATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCA
17g.43049140G>ACA10590699BRCA1c.5384C>T (p.Ser1795Leu)
c.5387C>T (p.Ser1796Leu)
c.5261C>T (p.Ser1754Leu)
c.5381C>T (p.Ser1794Leu)
c.5309C>T (p.Ser1770Leu)
c.2075C>T (p.Ser692Leu)
c.1937C>T (p.Ser646Leu)
c.4499C>T (p.Ser1500Leu)
c.5264C>T (p.Ser1755Leu)
c.5453C>T (p.Ser1818Leu)
c.5246C>T (p.Ser1749Leu)
c.1949C>T (p.Ser650Leu)
n.1270C>T
c.5450C>T (p.Ser1817Leu)
c.1774C>T
c.1961C>T (p.Ser654Leu)
c.*5170C>T (n.*5170C>T)
c.2021-1437C>T (n.2021-1437C>T)
c.317C>T (p.Ser106Leu)
c.860C>T (p.Ser287Leu)
c.86C>T (p.Ser29Leu)
n.5523C>T
n.5564C>T
 ClinVar dbSNP
17g.43049140G>CCA10590700BRCA1c.5384C>G (p.Ser1795Ter)
c.5387C>G (p.Ser1796Ter)
c.5261C>G (p.Ser1754Ter)
c.5381C>G (p.Ser1794Ter)
c.5309C>G (p.Ser1770Ter)
c.2075C>G (p.Ser692Ter)
c.1937C>G (p.Ser646Ter)
c.4499C>G (p.Ser1500Ter)
c.5264C>G (p.Ser1755Ter)
c.5453C>G (p.Ser1818Ter)
c.5246C>G (p.Ser1749Ter)
c.1949C>G (p.Ser650Ter)
n.1270C>G
c.5450C>G (p.Ser1817Ter)
c.1774C>G
c.1961C>G (p.Ser654Ter)
c.*5170C>G (n.*5170C>G)
c.2021-1437C>G (n.2021-1437C>G)
c.317C>G (p.Ser106Ter)
c.860C>G (p.Ser287Ter)
c.86C>G (p.Ser29Ter)
n.5523C>G
n.5564C>G
 ClinVar dbSNP
17g.43049140G=CA2260762731BRCA1c.5384C= (p.Ser1795=)
c.5387C= (p.Ser1796=)
c.5261C= (p.Ser1754=)
c.5381C= (p.Ser1794=)
c.5309C= (p.Ser1770=)
c.2075C= (p.Ser692=)
c.1937C= (p.Ser646=)
c.4499C= (p.Ser1500=)
c.5264C= (p.Ser1755=)
c.5453C= (p.Ser1818=)
c.5246C= (p.Ser1749=)
c.1949C= (p.Ser650=)
n.1270C=
c.5450C= (p.Ser1817=)
c.1774C=
c.1961C= (p.Ser654=)
c.*5170C= (n.*5170C=)
c.2021-1437C= (n.2021-1437C=)
c.317C= (p.Ser106=)
c.860C= (p.Ser287=)
c.86C= (p.Ser29=)
n.5523C=
n.5564C=
17g.43049140G>TCA003546BRCA1c.5384C>A (p.Ser1795Ter)
c.5387C>A (p.Ser1796Ter)
c.5261C>A (p.Ser1754Ter)
c.5381C>A (p.Ser1794Ter)
c.5309C>A (p.Ser1770Ter)
c.2075C>A (p.Ser692Ter)
c.1937C>A (p.Ser646Ter)
c.4499C>A (p.Ser1500Ter)
c.5264C>A (p.Ser1755Ter)
c.5453C>A (p.Ser1818Ter)
c.5246C>A (p.Ser1749Ter)
c.1949C>A (p.Ser650Ter)
n.1270C>A
c.5450C>A (p.Ser1817Ter)
c.1774C>A
c.1961C>A (p.Ser654Ter)
c.*5170C>A (n.*5170C>A)
c.2021-1437C>A (n.2021-1437C>A)
c.317C>A (p.Ser106Ter)
c.860C>A (p.Ser287Ter)
c.86C>A (p.Ser29Ter)
n.5523C>A
n.5564C>A
 ClinVar dbSNP
17g.43049140dupCA2695226110BRCA1c.5384dup (p.Ser1796IlefsTer?)
c.5387dup (p.Ser1797IlefsTer?)
c.5261dup (p.Ser1755IlefsTer?)
c.5381dup (p.Ser1795IlefsTer?)
c.5309dup (p.Ser1771IlefsTer?)
c.2075dup (p.Ser693IlefsTer?)
c.1937dup (p.Ser647IlefsTer?)
c.4499dup (p.Ser1501IlefsTer?)
c.5264dup (p.Ser1756IlefsTer?)
c.5453dup (p.Ser1819IlefsTer?)
c.5246dup (p.Ser1750IlefsTer?)
c.1949dup (p.Ser651IlefsTer?)
n.1270dup
c.5450dup (p.Ser1818IlefsTer?)
c.1774dup
c.1961dup (p.Ser655IlefsTer?)
c.*5170dup (n.*5170dup)
c.2021-1437dup (n.2021-1437dup)
c.317dup (p.Ser107IlefsTer?)
c.860dup (p.Ser288IlefsTer?)
c.86dup (p.Ser30IlefsTer?)
n.5523dup
n.5564dup
17g.43049140_43049141delinsGACA2260762732BRCA1c.5383_5384delinsTC (p.Ser1795=)
c.5386_5387delinsTC (p.Ser1796=)
c.5260_5261delinsTC (p.Ser1754=)
c.5380_5381delinsTC (p.Ser1794=)
c.5308_5309delinsTC (p.Ser1770=)
c.2074_2075delinsTC (p.Ser692=)
c.1936_1937delinsTC (p.Ser646=)
c.4498_4499delinsTC (p.Ser1500=)
c.5263_5264delinsTC (p.Ser1755=)
c.5452_5453delinsTC (p.Ser1818=)
c.5245_5246delinsTC (p.Ser1749=)
c.1948_1949delinsTC (p.Ser650=)
n.1269_1270delinsTC
c.5449_5450delinsTC (p.Ser1817=)
c.1773_1774delinsTC
c.1960_1961delinsTC (p.Ser654=)
c.*5169_*5170delinsTC (n.*5169_*5170delinsTC)
c.2021-1438_2021-1437delinsTC (n.2021-1438_2021-1437delinsTC)
c.316_317delinsTC (p.Ser106=)
c.859_860delinsTC (p.Ser287=)
c.85_86delinsTC (p.Ser29=)
n.5522_5523delinsTC
n.5563_5564delinsTC
17g.43049140_43049392delCA10602572BRCA1c.5330-198_5384del
c.5333-198_5387del
c.5207-198_5261del
c.5327-198_5381del
c.5255-198_5309del
c.2021-198_2075del
c.1883-198_1937del
c.4445-198_4499del
c.5210-198_5264del
c.5399-198_5453del
c.5192-198_5246del
c.1895-198_1949del
n.1018_1270del
c.5396-198_5450del
c.1720-198_1774del
c.1907-198_1961del
c.*5116-198_*5170del
c.2020+1671_2021-1437del (n.2020+1671_2021-1437del)
c.263-198_317del
c.806-198_860del
c.32-198_86del
n.5469-198_5523del
n.5510-198_5564del
 ClinVar dbSNP
17g.43049141A=CA2260762734BRCA1c.5383T= (p.Ser1795=)
c.5386T= (p.Ser1796=)
c.5260T= (p.Ser1754=)
c.5380T= (p.Ser1794=)
c.5308T= (p.Ser1770=)
c.2074T= (p.Ser692=)
c.1936T= (p.Ser646=)
c.4498T= (p.Ser1500=)
c.5263T= (p.Ser1755=)
c.5452T= (p.Ser1818=)
c.5245T= (p.Ser1749=)
c.1948T= (p.Ser650=)
n.1269T=
c.5449T= (p.Ser1817=)
c.1773T=
c.1960T= (p.Ser654=)
c.*5169T= (n.*5169T=)
c.2021-1438T= (n.2021-1438T=)
c.316T= (p.Ser106=)
c.859T= (p.Ser287=)
c.85T= (p.Ser29=)
n.5522T=
n.5563T=
17g.43049141A>CCA10590701BRCA1c.5383T>G (p.Ser1795Ala)
c.5386T>G (p.Ser1796Ala)
c.5260T>G (p.Ser1754Ala)
c.5380T>G (p.Ser1794Ala)
c.5308T>G (p.Ser1770Ala)
c.2074T>G (p.Ser692Ala)
c.1936T>G (p.Ser646Ala)
c.4498T>G (p.Ser1500Ala)
c.5263T>G (p.Ser1755Ala)
c.5452T>G (p.Ser1818Ala)
c.5245T>G (p.Ser1749Ala)
c.1948T>G (p.Ser650Ala)
n.1269T>G
c.5449T>G (p.Ser1817Ala)
c.1773T>G
c.1960T>G (p.Ser654Ala)
c.*5169T>G (n.*5169T>G)
c.2021-1438T>G (n.2021-1438T>G)
c.316T>G (p.Ser106Ala)
c.859T>G (p.Ser287Ala)
c.85T>G (p.Ser29Ala)
n.5522T>G
n.5563T>G
 ClinVar dbSNP
17g.43049141A>GCA10590702BRCA1c.5383T>C (p.Ser1795Pro)
c.5386T>C (p.Ser1796Pro)
c.5260T>C (p.Ser1754Pro)
c.5380T>C (p.Ser1794Pro)
c.5308T>C (p.Ser1770Pro)
c.2074T>C (p.Ser692Pro)
c.1936T>C (p.Ser646Pro)
c.4498T>C (p.Ser1500Pro)
c.5263T>C (p.Ser1755Pro)
c.5452T>C (p.Ser1818Pro)
c.5245T>C (p.Ser1749Pro)
c.1948T>C (p.Ser650Pro)
n.1269T>C
c.5449T>C (p.Ser1817Pro)
c.1773T>C
c.1960T>C (p.Ser654Pro)
c.*5169T>C (n.*5169T>C)
c.2021-1438T>C (n.2021-1438T>C)
c.316T>C (p.Ser106Pro)
c.859T>C (p.Ser287Pro)
c.85T>C (p.Ser29Pro)
n.5522T>C
n.5563T>C
 ClinVar dbSNP
17g.43049141A>TCA10590703BRCA1c.5383T>A (p.Ser1795Thr)
c.5386T>A (p.Ser1796Thr)
c.5260T>A (p.Ser1754Thr)
c.5380T>A (p.Ser1794Thr)
c.5308T>A (p.Ser1770Thr)
c.2074T>A (p.Ser692Thr)
c.1936T>A (p.Ser646Thr)
c.4498T>A (p.Ser1500Thr)
c.5263T>A (p.Ser1755Thr)
c.5452T>A (p.Ser1818Thr)
c.5245T>A (p.Ser1749Thr)
c.1948T>A (p.Ser650Thr)
n.1269T>A
c.5449T>A (p.Ser1817Thr)
c.1773T>A
c.1960T>A (p.Ser654Thr)
c.*5169T>A (n.*5169T>A)
c.2021-1438T>A (n.2021-1438T>A)
c.316T>A (p.Ser106Thr)
c.859T>A (p.Ser287Thr)
c.85T>A (p.Ser29Thr)
n.5522T>A
n.5563T>A
 ClinVar dbSNP
17g.43049143dupCA268393BRCA1c.5383dup (p.Ser1795PhefsTer?)
c.5386dup (p.Ser1796PhefsTer?)
c.5260dup (p.Ser1754PhefsTer?)
c.5380dup (p.Ser1794PhefsTer?)
c.5308dup (p.Ser1770PhefsTer?)
c.2074dup (p.Ser692PhefsTer?)
c.1936dup (p.Ser646PhefsTer?)
c.4498dup (p.Ser1500PhefsTer?)
c.5263dup (p.Ser1755PhefsTer?)
c.5452dup (p.Ser1818PhefsTer?)
c.5245dup (p.Ser1749PhefsTer?)
c.1948dup (p.Ser650PhefsTer?)
n.1269dup
c.5449dup (p.Ser1817PhefsTer?)
c.1773dup
c.1960dup (p.Ser654PhefsTer?)
c.*5169dup (n.*5169dup)
c.2021-1438dup (n.2021-1438dup)
c.316dup (p.Ser106PhefsTer?)
c.859dup (p.Ser287PhefsTer?)
c.85dup (p.Ser29PhefsTer?)
n.5522dup
n.5563dup
 ClinVar dbSNP COSMIC
17g.43049143delCA003545BRCA1c.5383del (p.Ser1795HisfsTer?)
c.5386del (p.Ser1796HisfsTer?)
c.5260del (p.Ser1754HisfsTer?)
c.5380del (p.Ser1794HisfsTer?)
c.5308del (p.Ser1770HisfsTer?)
c.2074del (p.Ser692HisfsTer?)
c.1936del (p.Ser646HisfsTer?)
c.4498del (p.Ser1500HisfsTer?)
c.5263del (p.Ser1755HisfsTer?)
c.5452del (p.Ser1818HisfsTer?)
c.5245del (p.Ser1749HisfsTer?)
c.1948del (p.Ser650HisfsTer?)
n.1269del
c.5449del (p.Ser1817HisfsTer?)
c.1773del
c.1960del (p.Ser654HisfsTer?)
c.*5169del (n.*5169del)
c.2021-1438del (n.2021-1438del)
c.316del (p.Ser106HisfsTer?)
c.859del (p.Ser287HisfsTer?)
c.85del (p.Ser29HisfsTer?)
n.5522del
n.5563del
 ClinVar dbSNP
17g.43049141_43049158delinsAAAGCTCCTTCACCACAGCA2260762733BRCA1c.5366_5383delinsCTGTGGTGAAGGAGCTTT (p.Ser1789=)
c.5369_5386delinsCTGTGGTGAAGGAGCTTT (p.Ser1790=)
c.5243_5260delinsCTGTGGTGAAGGAGCTTT (p.Ser1748=)
c.5363_5380delinsCTGTGGTGAAGGAGCTTT (p.Ser1788=)
c.5291_5308delinsCTGTGGTGAAGGAGCTTT (p.Ser1764=)
c.2057_2074delinsCTGTGGTGAAGGAGCTTT (p.Ser686=)
c.1919_1936delinsCTGTGGTGAAGGAGCTTT (p.Ser640=)
c.4481_4498delinsCTGTGGTGAAGGAGCTTT (p.Ser1494=)
c.5246_5263delinsCTGTGGTGAAGGAGCTTT (p.Ser1749=)
c.5435_5452delinsCTGTGGTGAAGGAGCTTT (p.Ser1812=)
c.5228_5245delinsCTGTGGTGAAGGAGCTTT (p.Ser1743=)
c.1931_1948delinsCTGTGGTGAAGGAGCTTT (p.Ser644=)
n.1252_1269delinsCTGTGGTGAAGGAGCTTT
c.5432_5449delinsCTGTGGTGAAGGAGCTTT (p.Ser1811=)
c.1756_1773delinsCTGTGGTGAAGGAGCTTT
c.1943_1960delinsCTGTGGTGAAGGAGCTTT (p.Ser648=)
c.*5152_*5169delinsCTGTGGTGAAGGAGCTTT (n.*5152_*5169delinsCTGTGGTGAAGGAGCTTT)
c.2021-1455_2021-1438delinsCTGTGGTGAAGGAGCTTT (n.2021-1455_2021-1438delinsCTGTGGTGAAGGAGCTTT)
c.299_316delinsCTGTGGTGAAGGAGCTTT (p.Ser100=)
c.842_859delinsCTGTGGTGAAGGAGCTTT (p.Ser281=)
c.68_85delinsCTGTGGTGAAGGAGCTTT (p.Ser23=)
n.5505_5522delinsCTGTGGTGAAGGAGCTTT
n.5546_5563delinsCTGTGGTGAAGGAGCTTT
17g.43049141_43049142insGCA645577429BRCA1c.5382_5383insC (p.Ser1795LeufsTer?)
c.5385_5386insC (p.Ser1796LeufsTer?)
c.5259_5260insC (p.Ser1754LeufsTer?)
c.5379_5380insC (p.Ser1794LeufsTer?)
c.5307_5308insC (p.Ser1770LeufsTer?)
c.2073_2074insC (p.Ser692LeufsTer?)
c.1935_1936insC (p.Ser646LeufsTer?)
c.4497_4498insC (p.Ser1500LeufsTer?)
c.5262_5263insC (p.Ser1755LeufsTer?)
c.5451_5452insC (p.Ser1818LeufsTer?)
c.5244_5245insC (p.Ser1749LeufsTer?)
c.1947_1948insC (p.Ser650LeufsTer?)
n.1268_1269insC
c.5448_5449insC (p.Ser1817LeufsTer?)
c.1772_1773insC
c.1959_1960insC (p.Ser654LeufsTer?)
c.*5168_*5169insC (n.*5168_*5169insC)
c.2021-1439_2021-1438insC (n.2021-1439_2021-1438insC)
c.315_316insC (p.Ser106LeufsTer?)
c.858_859insC (p.Ser287LeufsTer?)
c.84_85insC (p.Ser29LeufsTer?)
n.5521_5522insC
n.5562_5563insC
 COSMIC
17g.43049142A=CA2260762735BRCA1c.5382T= (p.Leu1794=)
c.5385T= (p.Leu1795=)
c.5259T= (p.Leu1753=)
c.5379T= (p.Leu1793=)
c.5307T= (p.Leu1769=)
c.2073T= (p.Leu691=)
c.1935T= (p.Leu645=)
c.4497T= (p.Leu1499=)
c.5262T= (p.Leu1754=)
c.5451T= (p.Leu1817=)
c.5244T= (p.Leu1748=)
c.1947T= (p.Leu649=)
n.1268T=
c.5448T= (p.Leu1816=)
c.1772T=
c.1959T= (p.Leu653=)
c.*5168T= (n.*5168T=)
c.2021-1439T= (n.2021-1439T=)
c.315T= (p.Leu105=)
c.858T= (p.Leu286=)
c.84T= (p.Leu28=)
n.5521T=
n.5562T=
17g.43049142A>CCA500143288BRCA1c.5382T>G (p.Leu1794=)
c.5385T>G (p.Leu1795=)
c.5259T>G (p.Leu1753=)
c.5379T>G (p.Leu1793=)
c.5307T>G (p.Leu1769=)
c.2073T>G (p.Leu691=)
c.1935T>G (p.Leu645=)
c.4497T>G (p.Leu1499=)
c.5262T>G (p.Leu1754=)
c.5451T>G (p.Leu1817=)
c.5244T>G (p.Leu1748=)
c.1947T>G (p.Leu649=)
n.1268T>G
c.5448T>G (p.Leu1816=)
c.1772T>G
c.1959T>G (p.Leu653=)
c.*5168T>G (n.*5168T>G)
c.2021-1439T>G (n.2021-1439T>G)
c.315T>G (p.Leu105=)
c.858T>G (p.Leu286=)
c.84T>G (p.Leu28=)
n.5521T>G
n.5562T>G
 ClinVar dbSNP
17g.43049142A>GCA500143290BRCA1c.5382T>C (p.Leu1794=)
c.5385T>C (p.Leu1795=)
c.5259T>C (p.Leu1753=)
c.5379T>C (p.Leu1793=)
c.5307T>C (p.Leu1769=)
c.2073T>C (p.Leu691=)
c.1935T>C (p.Leu645=)
c.4497T>C (p.Leu1499=)
c.5262T>C (p.Leu1754=)
c.5451T>C (p.Leu1817=)
c.5244T>C (p.Leu1748=)
c.1947T>C (p.Leu649=)
n.1268T>C
c.5448T>C (p.Leu1816=)
c.1772T>C
c.1959T>C (p.Leu653=)
c.*5168T>C (n.*5168T>C)
c.2021-1439T>C (n.2021-1439T>C)
c.315T>C (p.Leu105=)
c.858T>C (p.Leu286=)
c.84T>C (p.Leu28=)
n.5521T>C
n.5562T>C
 ClinVar dbSNP
17g.43049142A>TCA500143289BRCA1c.5382T>A (p.Leu1794=)
c.5385T>A (p.Leu1795=)
c.5259T>A (p.Leu1753=)
c.5379T>A (p.Leu1793=)
c.5307T>A (p.Leu1769=)
c.2073T>A (p.Leu691=)
c.1935T>A (p.Leu645=)
c.4497T>A (p.Leu1499=)
c.5262T>A (p.Leu1754=)
c.5451T>A (p.Leu1817=)
c.5244T>A (p.Leu1748=)
c.1947T>A (p.Leu649=)
n.1268T>A
c.5448T>A (p.Leu1816=)
c.1772T>A
c.1959T>A (p.Leu653=)
c.*5168T>A (n.*5168T>A)
c.2021-1439T>A (n.2021-1439T>A)
c.315T>A (p.Leu105=)
c.858T>A (p.Leu286=)
c.84T>A (p.Leu28=)
n.5521T>A
n.5562T>A
 ClinVar dbSNP
17g.43049146_43049162delCA003534BRCA1c.5366_5382del (p.Ser1789PhefsTer?)
c.5369_5385del (p.Ser1790PhefsTer?)
c.5243_5259del (p.Ser1748PhefsTer?)
c.5363_5379del (p.Ser1788PhefsTer?)
c.5291_5307del (p.Ser1764PhefsTer?)
c.2057_2073del (p.Ser686PhefsTer?)
c.1919_1935del (p.Ser640PhefsTer?)
c.4481_4497del (p.Ser1494PhefsTer?)
c.5246_5262del (p.Ser1749PhefsTer?)
c.5435_5451del (p.Ser1812PhefsTer?)
c.5228_5244del (p.Ser1743PhefsTer?)
c.1931_1947del (p.Ser644PhefsTer?)
n.1252_1268del
c.5432_5448del (p.Ser1811PhefsTer?)
c.1756_1772del
c.1943_1959del (p.Ser648PhefsTer?)
c.*5152_*5168del (n.*5152_*5168del)
c.2021-1455_2021-1439del (n.2021-1455_2021-1439del)
c.299_315del (p.Ser100PhefsTer?)
c.842_858del (p.Ser281PhefsTer?)
c.68_84del (p.Ser23PhefsTer?)
n.5505_5521del
n.5546_5562del
 ClinVar dbSNP
17g.43049143A=CA2260762736BRCA1c.5381T= (p.Leu1794=)
c.5384T= (p.Leu1795=)
c.5258T= (p.Leu1753=)
c.5378T= (p.Leu1793=)
c.5306T= (p.Leu1769=)
c.2072T= (p.Leu691=)
c.1934T= (p.Leu645=)
c.4496T= (p.Leu1499=)
c.5261T= (p.Leu1754=)
c.5450T= (p.Leu1817=)
c.5243T= (p.Leu1748=)
c.1946T= (p.Leu649=)
n.1267T=
c.5447T= (p.Leu1816=)
c.1771T=
c.1958T= (p.Leu653=)
c.*5167T= (n.*5167T=)
c.2021-1440T= (n.2021-1440T=)
c.314T= (p.Leu105=)
c.857T= (p.Leu286=)
c.83T= (p.Leu28=)
n.5520T=
n.5561T=
17g.43049143A>CCA10590704BRCA1c.5381T>G (p.Leu1794Arg)
c.5384T>G (p.Leu1795Arg)
c.5258T>G (p.Leu1753Arg)
c.5378T>G (p.Leu1793Arg)
c.5306T>G (p.Leu1769Arg)
c.2072T>G (p.Leu691Arg)
c.1934T>G (p.Leu645Arg)
c.4496T>G (p.Leu1499Arg)
c.5261T>G (p.Leu1754Arg)
c.5450T>G (p.Leu1817Arg)
c.5243T>G (p.Leu1748Arg)
c.1946T>G (p.Leu649Arg)
n.1267T>G
c.5447T>G (p.Leu1816Arg)
c.1771T>G
c.1958T>G (p.Leu653Arg)
c.*5167T>G (n.*5167T>G)
c.2021-1440T>G (n.2021-1440T>G)
c.314T>G (p.Leu105Arg)
c.857T>G (p.Leu286Arg)
c.83T>G (p.Leu28Arg)
n.5520T>G
n.5561T>G
 ClinVar dbSNP
17g.43049143A>GCA10590705BRCA1c.5381T>C (p.Leu1794Pro)
c.5384T>C (p.Leu1795Pro)
c.5258T>C (p.Leu1753Pro)
c.5378T>C (p.Leu1793Pro)
c.5306T>C (p.Leu1769Pro)
c.2072T>C (p.Leu691Pro)
c.1934T>C (p.Leu645Pro)
c.4496T>C (p.Leu1499Pro)
c.5261T>C (p.Leu1754Pro)
c.5450T>C (p.Leu1817Pro)
c.5243T>C (p.Leu1748Pro)
c.1946T>C (p.Leu649Pro)
n.1267T>C
c.5447T>C (p.Leu1816Pro)
c.1771T>C
c.1958T>C (p.Leu653Pro)
c.*5167T>C (n.*5167T>C)
c.2021-1440T>C (n.2021-1440T>C)
c.314T>C (p.Leu105Pro)
c.857T>C (p.Leu286Pro)
c.83T>C (p.Leu28Pro)
n.5520T>C
n.5561T>C
 ClinVar dbSNP
17g.43049143A>TCA10590706BRCA1c.5381T>A (p.Leu1794His)
c.5384T>A (p.Leu1795His)
c.5258T>A (p.Leu1753His)
c.5378T>A (p.Leu1793His)
c.5306T>A (p.Leu1769His)
c.2072T>A (p.Leu691His)
c.1934T>A (p.Leu645His)
c.4496T>A (p.Leu1499His)
c.5261T>A (p.Leu1754His)
c.5450T>A (p.Leu1817His)
c.5243T>A (p.Leu1748His)
c.1946T>A (p.Leu649His)
n.1267T>A
c.5447T>A (p.Leu1816His)
c.1771T>A
c.1958T>A (p.Leu653His)
c.*5167T>A (n.*5167T>A)
c.2021-1440T>A (n.2021-1440T>A)
c.314T>A (p.Leu105His)
c.857T>A (p.Leu286His)
c.83T>A (p.Leu28His)
n.5520T>A
n.5561T>A
 ClinVar dbSNP
17g.43049144G>ACA10583547BRCA1c.5380C>T (p.Leu1794Phe)
c.5383C>T (p.Leu1795Phe)
c.5257C>T (p.Leu1753Phe)
c.5377C>T (p.Leu1793Phe)
c.5305C>T (p.Leu1769Phe)
c.2071C>T (p.Leu691Phe)
c.1933C>T (p.Leu645Phe)
c.4495C>T (p.Leu1499Phe)
c.5260C>T (p.Leu1754Phe)
c.5449C>T (p.Leu1817Phe)
c.5242C>T (p.Leu1748Phe)
c.1945C>T (p.Leu649Phe)
n.1266C>T
c.5446C>T (p.Leu1816Phe)
c.1770C>T
c.1957C>T (p.Leu653Phe)
c.*5166C>T (n.*5166C>T)
c.2021-1441C>T (n.2021-1441C>T)
c.313C>T (p.Leu105Phe)
c.856C>T (p.Leu286Phe)
c.82C>T (p.Leu28Phe)
n.5519C>T
n.5560C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049144G>CCA10590707BRCA1c.5380C>G (p.Leu1794Val)
c.5383C>G (p.Leu1795Val)
c.5257C>G (p.Leu1753Val)
c.5377C>G (p.Leu1793Val)
c.5305C>G (p.Leu1769Val)
c.2071C>G (p.Leu691Val)
c.1933C>G (p.Leu645Val)
c.4495C>G (p.Leu1499Val)
c.5260C>G (p.Leu1754Val)
c.5449C>G (p.Leu1817Val)
c.5242C>G (p.Leu1748Val)
c.1945C>G (p.Leu649Val)
n.1266C>G
c.5446C>G (p.Leu1816Val)
c.1770C>G
c.1957C>G (p.Leu653Val)
c.*5166C>G (n.*5166C>G)
c.2021-1441C>G (n.2021-1441C>G)
c.313C>G (p.Leu105Val)
c.856C>G (p.Leu286Val)
c.82C>G (p.Leu28Val)
n.5519C>G
n.5560C>G
 ClinVar dbSNP
17g.43049144G=CA2260762737BRCA1c.5380C= (p.Leu1794=)
c.5383C= (p.Leu1795=)
c.5257C= (p.Leu1753=)
c.5377C= (p.Leu1793=)
c.5305C= (p.Leu1769=)
c.2071C= (p.Leu691=)
c.1933C= (p.Leu645=)
c.4495C= (p.Leu1499=)
c.5260C= (p.Leu1754=)
c.5449C= (p.Leu1817=)
c.5242C= (p.Leu1748=)
c.1945C= (p.Leu649=)
n.1266C=
c.5446C= (p.Leu1816=)
c.1770C=
c.1957C= (p.Leu653=)
c.*5166C= (n.*5166C=)
c.2021-1441C= (n.2021-1441C=)
c.313C= (p.Leu105=)
c.856C= (p.Leu286=)
c.82C= (p.Leu28=)
n.5519C=
n.5560C=
17g.43049144G>TCA10590708BRCA1c.5380C>A (p.Leu1794Ile)
c.5383C>A (p.Leu1795Ile)
c.5257C>A (p.Leu1753Ile)
c.5377C>A (p.Leu1793Ile)
c.5305C>A (p.Leu1769Ile)
c.2071C>A (p.Leu691Ile)
c.1933C>A (p.Leu645Ile)
c.4495C>A (p.Leu1499Ile)
c.5260C>A (p.Leu1754Ile)
c.5449C>A (p.Leu1817Ile)
c.5242C>A (p.Leu1748Ile)
c.1945C>A (p.Leu649Ile)
n.1266C>A
c.5446C>A (p.Leu1816Ile)
c.1770C>A
c.1957C>A (p.Leu653Ile)
c.*5166C>A (n.*5166C>A)
c.2021-1441C>A (n.2021-1441C>A)
c.313C>A (p.Leu105Ile)
c.856C>A (p.Leu286Ile)
c.82C>A (p.Leu28Ile)
n.5519C>A
n.5560C>A
 ClinVar dbSNP
17g.43049144_43049145insTCA500143291BRCA1c.5379_5380insA (p.Leu1794ThrfsTer?)
c.5382_5383insA (p.Leu1795ThrfsTer?)
c.5256_5257insA (p.Leu1753ThrfsTer?)
c.5376_5377insA (p.Leu1793ThrfsTer?)
c.5304_5305insA (p.Leu1769ThrfsTer?)
c.2070_2071insA (p.Leu691ThrfsTer?)
c.1932_1933insA (p.Leu645ThrfsTer?)
c.4494_4495insA (p.Leu1499ThrfsTer?)
c.5259_5260insA (p.Leu1754ThrfsTer?)
c.5448_5449insA (p.Leu1817ThrfsTer?)
c.5241_5242insA (p.Leu1748ThrfsTer?)
c.1944_1945insA (p.Leu649ThrfsTer?)
n.1265_1266insA
c.5445_5446insA (p.Leu1816ThrfsTer?)
c.1769_1770insA
c.1956_1957insA (p.Leu653ThrfsTer?)
c.*5165_*5166insA (n.*5165_*5166insA)
c.2021-1442_2021-1441insA (n.2021-1442_2021-1441insA)
c.312_313insA (p.Leu105ThrfsTer?)
c.855_856insA (p.Leu286ThrfsTer?)
c.81_82insA (p.Leu28ThrfsTer?)
n.5518_5519insA
n.5559_5560insA
17g.43049145C>ACA003543BRCA1c.5379G>T (p.Glu1793Asp)
c.5382G>T (p.Glu1794Asp)
c.5256G>T (p.Glu1752Asp)
c.5376G>T (p.Glu1792Asp)
c.5304G>T (p.Glu1768Asp)
c.2070G>T (p.Glu690Asp)
c.1932G>T (p.Glu644Asp)
c.4494G>T (p.Glu1498Asp)
c.5259G>T (p.Glu1753Asp)
c.5448G>T (p.Glu1816Asp)
c.5241G>T (p.Glu1747Asp)
c.1944G>T (p.Glu648Asp)
n.1265G>T
c.5445G>T (p.Glu1815Asp)
c.1769G>T
c.1956G>T (p.Glu652Asp)
c.*5165G>T (n.*5165G>T)
c.2021-1442G>T (n.2021-1442G>T)
c.312G>T (p.Glu104Asp)
c.855G>T (p.Glu285Asp)
c.81G>T (p.Glu27Asp)
n.5518G>T
n.5559G>T
 ClinVar dbSNP
17g.43049145C=CA2260762738BRCA1c.5379G= (p.Glu1793=)
c.5382G= (p.Glu1794=)
c.5256G= (p.Glu1752=)
c.5376G= (p.Glu1792=)
c.5304G= (p.Glu1768=)
c.2070G= (p.Glu690=)
c.1932G= (p.Glu644=)
c.4494G= (p.Glu1498=)
c.5259G= (p.Glu1753=)
c.5448G= (p.Glu1816=)
c.5241G= (p.Glu1747=)
c.1944G= (p.Glu648=)
n.1265G=
c.5445G= (p.Glu1815=)
c.1769G=
c.1956G= (p.Glu652=)
c.*5165G= (n.*5165G=)
c.2021-1442G= (n.2021-1442G=)
c.312G= (p.Glu104=)
c.855G= (p.Glu285=)
c.81G= (p.Glu27=)
n.5518G=
n.5559G=
17g.43049145C>GCA054799BRCA1c.5379G>C (p.Glu1793Asp)
c.5382G>C (p.Glu1794Asp)
c.5256G>C (p.Glu1752Asp)
c.5376G>C (p.Glu1792Asp)
c.5304G>C (p.Glu1768Asp)
c.2070G>C (p.Glu690Asp)
c.1932G>C (p.Glu644Asp)
c.4494G>C (p.Glu1498Asp)
c.5259G>C (p.Glu1753Asp)
c.5448G>C (p.Glu1816Asp)
c.5241G>C (p.Glu1747Asp)
c.1944G>C (p.Glu648Asp)
n.1265G>C
c.5445G>C (p.Glu1815Asp)
c.1769G>C
c.1956G>C (p.Glu652Asp)
c.*5165G>C (n.*5165G>C)
c.2021-1442G>C (n.2021-1442G>C)
c.312G>C (p.Glu104Asp)
c.855G>C (p.Glu285Asp)
c.81G>C (p.Glu27Asp)
n.5518G>C
n.5559G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049145C>TCA500143292BRCA1c.5379G>A (p.Glu1793=)
c.5382G>A (p.Glu1794=)
c.5256G>A (p.Glu1752=)
c.5376G>A (p.Glu1792=)
c.5304G>A (p.Glu1768=)
c.2070G>A (p.Glu690=)
c.1932G>A (p.Glu644=)
c.4494G>A (p.Glu1498=)
c.5259G>A (p.Glu1753=)
c.5448G>A (p.Glu1816=)
c.5241G>A (p.Glu1747=)
c.1944G>A (p.Glu648=)
n.1265G>A
c.5445G>A (p.Glu1815=)
c.1769G>A
c.1956G>A (p.Glu652=)
c.*5165G>A (n.*5165G>A)
c.2021-1442G>A (n.2021-1442G>A)
c.312G>A (p.Glu104=)
c.855G>A (p.Glu285=)
c.81G>A (p.Glu27=)
n.5518G>A
n.5559G>A
 ClinVar dbSNP gnomAD v4
17g.43049146T>ACA10590709BRCA1c.5378A>T (p.Glu1793Val)
c.5381A>T (p.Glu1794Val)
c.5255A>T (p.Glu1752Val)
c.5375A>T (p.Glu1792Val)
c.5303A>T (p.Glu1768Val)
c.2069A>T (p.Glu690Val)
c.1931A>T (p.Glu644Val)
c.4493A>T (p.Glu1498Val)
c.5258A>T (p.Glu1753Val)
c.5447A>T (p.Glu1816Val)
c.5240A>T (p.Glu1747Val)
c.1943A>T (p.Glu648Val)
n.1264A>T
c.5444A>T (p.Glu1815Val)
c.1768A>T
c.1955A>T (p.Glu652Val)
c.*5164A>T (n.*5164A>T)
c.2021-1443A>T (n.2021-1443A>T)
c.311A>T (p.Glu104Val)
c.854A>T (p.Glu285Val)
c.80A>T (p.Glu27Val)
n.5517A>T
n.5558A>T
 ClinVar dbSNP
17g.43049146T>CCA10590710BRCA1c.5378A>G (p.Glu1793Gly)
c.5381A>G (p.Glu1794Gly)
c.5255A>G (p.Glu1752Gly)
c.5375A>G (p.Glu1792Gly)
c.5303A>G (p.Glu1768Gly)
c.2069A>G (p.Glu690Gly)
c.1931A>G (p.Glu644Gly)
c.4493A>G (p.Glu1498Gly)
c.5258A>G (p.Glu1753Gly)
c.5447A>G (p.Glu1816Gly)
c.5240A>G (p.Glu1747Gly)
c.1943A>G (p.Glu648Gly)
n.1264A>G
c.5444A>G (p.Glu1815Gly)
c.1768A>G
c.1955A>G (p.Glu652Gly)
c.*5164A>G (n.*5164A>G)
c.2021-1443A>G (n.2021-1443A>G)
c.311A>G (p.Glu104Gly)
c.854A>G (p.Glu285Gly)
c.80A>G (p.Glu27Gly)
n.5517A>G
n.5558A>G
 ClinVar dbSNP gnomAD v4
17g.43049146T>GCA10590711BRCA1c.5378A>C (p.Glu1793Ala)
c.5381A>C (p.Glu1794Ala)
c.5255A>C (p.Glu1752Ala)
c.5375A>C (p.Glu1792Ala)
c.5303A>C (p.Glu1768Ala)
c.2069A>C (p.Glu690Ala)
c.1931A>C (p.Glu644Ala)
c.4493A>C (p.Glu1498Ala)
c.5258A>C (p.Glu1753Ala)
c.5447A>C (p.Glu1816Ala)
c.5240A>C (p.Glu1747Ala)
c.1943A>C (p.Glu648Ala)
n.1264A>C
c.5444A>C (p.Glu1815Ala)
c.1768A>C
c.1955A>C (p.Glu652Ala)
c.*5164A>C (n.*5164A>C)
c.2021-1443A>C (n.2021-1443A>C)
c.311A>C (p.Glu104Ala)
c.854A>C (p.Glu285Ala)
c.80A>C (p.Glu27Ala)
n.5517A>C
n.5558A>C
 ClinVar dbSNP
17g.43049146T=CA2260762739BRCA1c.5378A= (p.Glu1793=)
c.5381A= (p.Glu1794=)
c.5255A= (p.Glu1752=)
c.5375A= (p.Glu1792=)
c.5303A= (p.Glu1768=)
c.2069A= (p.Glu690=)
c.1931A= (p.Glu644=)
c.4493A= (p.Glu1498=)
c.5258A= (p.Glu1753=)
c.5447A= (p.Glu1816=)
c.5240A= (p.Glu1747=)
c.1943A= (p.Glu648=)
n.1264A=
c.5444A= (p.Glu1815=)
c.1768A=
c.1955A= (p.Glu652=)
c.*5164A= (n.*5164A=)
c.2021-1443A= (n.2021-1443A=)
c.311A= (p.Glu104=)
c.854A= (p.Glu285=)
c.80A= (p.Glu27=)
n.5517A=
n.5558A=
17g.43049147C>ACA10590712BRCA1c.5377G>T (p.Glu1793Ter)
c.5380G>T (p.Glu1794Ter)
c.5254G>T (p.Glu1752Ter)
c.5374G>T (p.Glu1792Ter)
c.5302G>T (p.Glu1768Ter)
c.2068G>T (p.Glu690Ter)
c.1930G>T (p.Glu644Ter)
c.4492G>T (p.Glu1498Ter)
c.5257G>T (p.Glu1753Ter)
c.5446G>T (p.Glu1816Ter)
c.5239G>T (p.Glu1747Ter)
c.1942G>T (p.Glu648Ter)
n.1263G>T
c.5443G>T (p.Glu1815Ter)
c.1767G>T
c.1954G>T (p.Glu652Ter)
c.*5163G>T (n.*5163G>T)
c.2021-1444G>T (n.2021-1444G>T)
c.310G>T (p.Glu104Ter)
c.853G>T (p.Glu285Ter)
c.79G>T (p.Glu27Ter)
n.5516G>T
n.5557G>T
 ClinVar dbSNP COSMIC COSMIC
17g.43049147C=CA2260762740BRCA1c.5377G= (p.Glu1793=)
c.5380G= (p.Glu1794=)
c.5254G= (p.Glu1752=)
c.5374G= (p.Glu1792=)
c.5302G= (p.Glu1768=)
c.2068G= (p.Glu690=)
c.1930G= (p.Glu644=)
c.4492G= (p.Glu1498=)
c.5257G= (p.Glu1753=)
c.5446G= (p.Glu1816=)
c.5239G= (p.Glu1747=)
c.1942G= (p.Glu648=)
n.1263G=
c.5443G= (p.Glu1815=)
c.1767G=
c.1954G= (p.Glu652=)
c.*5163G= (n.*5163G=)
c.2021-1444G= (n.2021-1444G=)
c.310G= (p.Glu104=)
c.853G= (p.Glu285=)
c.79G= (p.Glu27=)
n.5516G=
n.5557G=
17g.43049147C>GCA10590713BRCA1c.5377G>C (p.Glu1793Gln)
c.5380G>C (p.Glu1794Gln)
c.5254G>C (p.Glu1752Gln)
c.5374G>C (p.Glu1792Gln)
c.5302G>C (p.Glu1768Gln)
c.2068G>C (p.Glu690Gln)
c.1930G>C (p.Glu644Gln)
c.4492G>C (p.Glu1498Gln)
c.5257G>C (p.Glu1753Gln)
c.5446G>C (p.Glu1816Gln)
c.5239G>C (p.Glu1747Gln)
c.1942G>C (p.Glu648Gln)
n.1263G>C
c.5443G>C (p.Glu1815Gln)
c.1767G>C
c.1954G>C (p.Glu652Gln)
c.*5163G>C (n.*5163G>C)
c.2021-1444G>C (n.2021-1444G>C)
c.310G>C (p.Glu104Gln)
c.853G>C (p.Glu285Gln)
c.79G>C (p.Glu27Gln)
n.5516G>C
n.5557G>C
 ClinVar dbSNP
17g.43049147C>TCA054791BRCA1c.5377G>A (p.Glu1793Lys)
c.5380G>A (p.Glu1794Lys)
c.5254G>A (p.Glu1752Lys)
c.5374G>A (p.Glu1792Lys)
c.5302G>A (p.Glu1768Lys)
c.2068G>A (p.Glu690Lys)
c.1930G>A (p.Glu644Lys)
c.4492G>A (p.Glu1498Lys)
c.5257G>A (p.Glu1753Lys)
c.5446G>A (p.Glu1816Lys)
c.5239G>A (p.Glu1747Lys)
c.1942G>A (p.Glu648Lys)
n.1263G>A
c.5443G>A (p.Glu1815Lys)
c.1767G>A
c.1954G>A (p.Glu652Lys)
c.*5163G>A (n.*5163G>A)
c.2021-1444G>A (n.2021-1444G>A)
c.310G>A (p.Glu104Lys)
c.853G>A (p.Glu285Lys)
c.79G>A (p.Glu27Lys)
n.5516G>A
n.5557G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049148C>ACA10590714BRCA1c.5376G>T (p.Lys1792Asn)
c.5379G>T (p.Lys1793Asn)
c.5253G>T (p.Lys1751Asn)
c.5373G>T (p.Lys1791Asn)
c.5301G>T (p.Lys1767Asn)
c.2067G>T (p.Lys689Asn)
c.1929G>T (p.Lys643Asn)
c.4491G>T (p.Lys1497Asn)
c.5256G>T (p.Lys1752Asn)
c.5445G>T (p.Lys1815Asn)
c.5238G>T (p.Lys1746Asn)
c.1941G>T (p.Lys647Asn)
n.1262G>T
c.5442G>T (p.Lys1814Asn)
c.1766G>T
c.1953G>T (p.Lys651Asn)
c.*5162G>T (n.*5162G>T)
c.2021-1445G>T (n.2021-1445G>T)
c.309G>T (p.Lys103Asn)
c.852G>T (p.Lys284Asn)
c.78G>T (p.Lys26Asn)
n.5515G>T
n.5556G>T
 ClinVar dbSNP
17g.43049148C=CA2260762741BRCA1c.5376G= (p.Lys1792=)
c.5379G= (p.Lys1793=)
c.5253G= (p.Lys1751=)
c.5373G= (p.Lys1791=)
c.5301G= (p.Lys1767=)
c.2067G= (p.Lys689=)
c.1929G= (p.Lys643=)
c.4491G= (p.Lys1497=)
c.5256G= (p.Lys1752=)
c.5445G= (p.Lys1815=)
c.5238G= (p.Lys1746=)
c.1941G= (p.Lys647=)
n.1262G=
c.5442G= (p.Lys1814=)
c.1766G=
c.1953G= (p.Lys651=)
c.*5162G= (n.*5162G=)
c.2021-1445G= (n.2021-1445G=)
c.309G= (p.Lys103=)
c.852G= (p.Lys284=)
c.78G= (p.Lys26=)
n.5515G=
n.5556G=
17g.43049148C>GCA10590715BRCA1c.5376G>C (p.Lys1792Asn)
c.5379G>C (p.Lys1793Asn)
c.5253G>C (p.Lys1751Asn)
c.5373G>C (p.Lys1791Asn)
c.5301G>C (p.Lys1767Asn)
c.2067G>C (p.Lys689Asn)
c.1929G>C (p.Lys643Asn)
c.4491G>C (p.Lys1497Asn)
c.5256G>C (p.Lys1752Asn)
c.5445G>C (p.Lys1815Asn)
c.5238G>C (p.Lys1746Asn)
c.1941G>C (p.Lys647Asn)
n.1262G>C
c.5442G>C (p.Lys1814Asn)
c.1766G>C
c.1953G>C (p.Lys651Asn)
c.*5162G>C (n.*5162G>C)
c.2021-1445G>C (n.2021-1445G>C)
c.309G>C (p.Lys103Asn)
c.852G>C (p.Lys284Asn)
c.78G>C (p.Lys26Asn)
n.5515G>C
n.5556G>C
 ClinVar dbSNP
17g.43049148C>TCA500143293BRCA1c.5376G>A (p.Lys1792=)
c.5379G>A (p.Lys1793=)
c.5253G>A (p.Lys1751=)
c.5373G>A (p.Lys1791=)
c.5301G>A (p.Lys1767=)
c.2067G>A (p.Lys689=)
c.1929G>A (p.Lys643=)
c.4491G>A (p.Lys1497=)
c.5256G>A (p.Lys1752=)
c.5445G>A (p.Lys1815=)
c.5238G>A (p.Lys1746=)
c.1941G>A (p.Lys647=)
n.1262G>A
c.5442G>A (p.Lys1814=)
c.1766G>A
c.1953G>A (p.Lys651=)
c.*5162G>A (n.*5162G>A)
c.2021-1445G>A (n.2021-1445G>A)
c.309G>A (p.Lys103=)
c.852G>A (p.Lys284=)
c.78G>A (p.Lys26=)
n.5515G>A
n.5556G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43049149T>ACA10590716BRCA1c.5375A>T (p.Lys1792Met)
c.5378A>T (p.Lys1793Met)
c.5252A>T (p.Lys1751Met)
c.5372A>T (p.Lys1791Met)
c.5300A>T (p.Lys1767Met)
c.2066A>T (p.Lys689Met)
c.1928A>T (p.Lys643Met)
c.4490A>T (p.Lys1497Met)
c.5255A>T (p.Lys1752Met)
c.5444A>T (p.Lys1815Met)
c.5237A>T (p.Lys1746Met)
c.1940A>T (p.Lys647Met)
n.1261A>T
c.5441A>T (p.Lys1814Met)
c.1765A>T
c.1952A>T (p.Lys651Met)
c.*5161A>T (n.*5161A>T)
c.2021-1446A>T (n.2021-1446A>T)
c.308A>T (p.Lys103Met)
c.851A>T (p.Lys284Met)
c.77A>T (p.Lys26Met)
n.5514A>T
n.5555A>T
 ClinVar dbSNP
17g.43049149T>CCA10590717BRCA1c.5375A>G (p.Lys1792Arg)
c.5378A>G (p.Lys1793Arg)
c.5252A>G (p.Lys1751Arg)
c.5372A>G (p.Lys1791Arg)
c.5300A>G (p.Lys1767Arg)
c.2066A>G (p.Lys689Arg)
c.1928A>G (p.Lys643Arg)
c.4490A>G (p.Lys1497Arg)
c.5255A>G (p.Lys1752Arg)
c.5444A>G (p.Lys1815Arg)
c.5237A>G (p.Lys1746Arg)
c.1940A>G (p.Lys647Arg)
n.1261A>G
c.5441A>G (p.Lys1814Arg)
c.1765A>G
c.1952A>G (p.Lys651Arg)
c.*5161A>G (n.*5161A>G)
c.2021-1446A>G (n.2021-1446A>G)
c.308A>G (p.Lys103Arg)
c.851A>G (p.Lys284Arg)
c.77A>G (p.Lys26Arg)
n.5514A>G
n.5555A>G
 ClinVar dbSNP
17g.43049149T>GCA003541BRCA1c.5375A>C (p.Lys1792Thr)
c.5378A>C (p.Lys1793Thr)
c.5252A>C (p.Lys1751Thr)
c.5372A>C (p.Lys1791Thr)
c.5300A>C (p.Lys1767Thr)
c.2066A>C (p.Lys689Thr)
c.1928A>C (p.Lys643Thr)
c.4490A>C (p.Lys1497Thr)
c.5255A>C (p.Lys1752Thr)
c.5444A>C (p.Lys1815Thr)
c.5237A>C (p.Lys1746Thr)
c.1940A>C (p.Lys647Thr)
n.1261A>C
c.5441A>C (p.Lys1814Thr)
c.1765A>C
c.1952A>C (p.Lys651Thr)
c.*5161A>C (n.*5161A>C)
c.2021-1446A>C (n.2021-1446A>C)
c.308A>C (p.Lys103Thr)
c.851A>C (p.Lys284Thr)
c.77A>C (p.Lys26Thr)
n.5514A>C
n.5555A>C
 ClinVar dbSNP
17g.43049149T=CA2260762742BRCA1c.5375A= (p.Lys1792=)
c.5378A= (p.Lys1793=)
c.5252A= (p.Lys1751=)
c.5372A= (p.Lys1791=)
c.5300A= (p.Lys1767=)
c.2066A= (p.Lys689=)
c.1928A= (p.Lys643=)
c.4490A= (p.Lys1497=)
c.5255A= (p.Lys1752=)
c.5444A= (p.Lys1815=)
c.5237A= (p.Lys1746=)
c.1940A= (p.Lys647=)
n.1261A=
c.5441A= (p.Lys1814=)
c.1765A=
c.1952A= (p.Lys651=)
c.*5161A= (n.*5161A=)
c.2021-1446A= (n.2021-1446A=)
c.308A= (p.Lys103=)
c.851A= (p.Lys284=)
c.77A= (p.Lys26=)
n.5514A=
n.5555A=
17g.43049150T>ACA003540BRCA1c.5374A>T (p.Lys1792Ter)
c.5377A>T (p.Lys1793Ter)
c.5251A>T (p.Lys1751Ter)
c.5371A>T (p.Lys1791Ter)
c.5299A>T (p.Lys1767Ter)
c.2065A>T (p.Lys689Ter)
c.1927A>T (p.Lys643Ter)
c.4489A>T (p.Lys1497Ter)
c.5254A>T (p.Lys1752Ter)
c.5443A>T (p.Lys1815Ter)
c.5236A>T (p.Lys1746Ter)
c.1939A>T (p.Lys647Ter)
n.1260A>T
c.5440A>T (p.Lys1814Ter)
c.1764A>T
c.1951A>T (p.Lys651Ter)
c.*5160A>T (n.*5160A>T)
c.2021-1447A>T (n.2021-1447A>T)
c.307A>T (p.Lys103Ter)
c.850A>T (p.Lys284Ter)
c.76A>T (p.Lys26Ter)
n.5513A>T
n.5554A>T
 ClinVar dbSNP
17g.43049150T>CCA10590718BRCA1c.5374A>G (p.Lys1792Glu)
c.5377A>G (p.Lys1793Glu)
c.5251A>G (p.Lys1751Glu)
c.5371A>G (p.Lys1791Glu)
c.5299A>G (p.Lys1767Glu)
c.2065A>G (p.Lys689Glu)
c.1927A>G (p.Lys643Glu)
c.4489A>G (p.Lys1497Glu)
c.5254A>G (p.Lys1752Glu)
c.5443A>G (p.Lys1815Glu)
c.5236A>G (p.Lys1746Glu)
c.1939A>G (p.Lys647Glu)
n.1260A>G
c.5440A>G (p.Lys1814Glu)
c.1764A>G
c.1951A>G (p.Lys651Glu)
c.*5160A>G (n.*5160A>G)
c.2021-1447A>G (n.2021-1447A>G)
c.307A>G (p.Lys103Glu)
c.850A>G (p.Lys284Glu)
c.76A>G (p.Lys26Glu)
n.5513A>G
n.5554A>G
 ClinVar dbSNP
17g.43049150T>GCA10590719BRCA1c.5374A>C (p.Lys1792Gln)
c.5377A>C (p.Lys1793Gln)
c.5251A>C (p.Lys1751Gln)
c.5371A>C (p.Lys1791Gln)
c.5299A>C (p.Lys1767Gln)
c.2065A>C (p.Lys689Gln)
c.1927A>C (p.Lys643Gln)
c.4489A>C (p.Lys1497Gln)
c.5254A>C (p.Lys1752Gln)
c.5443A>C (p.Lys1815Gln)
c.5236A>C (p.Lys1746Gln)
c.1939A>C (p.Lys647Gln)
n.1260A>C
c.5440A>C (p.Lys1814Gln)
c.1764A>C
c.1951A>C (p.Lys651Gln)
c.*5160A>C (n.*5160A>C)
c.2021-1447A>C (n.2021-1447A>C)
c.307A>C (p.Lys103Gln)
c.850A>C (p.Lys284Gln)
c.76A>C (p.Lys26Gln)
n.5513A>C
n.5554A>C
 ClinVar dbSNP
17g.43049150T=CA2260762743BRCA1c.5374A= (p.Lys1792=)
c.5377A= (p.Lys1793=)
c.5251A= (p.Lys1751=)
c.5371A= (p.Lys1791=)
c.5299A= (p.Lys1767=)
c.2065A= (p.Lys689=)
c.1927A= (p.Lys643=)
c.4489A= (p.Lys1497=)
c.5254A= (p.Lys1752=)
c.5443A= (p.Lys1815=)
c.5236A= (p.Lys1746=)
c.1939A= (p.Lys647=)
n.1260A=
c.5440A= (p.Lys1814=)
c.1764A=
c.1951A= (p.Lys651=)
c.*5160A= (n.*5160A=)
c.2021-1447A= (n.2021-1447A=)
c.307A= (p.Lys103=)
c.850A= (p.Lys284=)
c.76A= (p.Lys26=)
n.5513A=
n.5554A=
17g.43049151C>ACA500143295BRCA1c.5373G>T (p.Val1791=)
c.5376G>T (p.Val1792=)
c.5250G>T (p.Val1750=)
c.5370G>T (p.Val1790=)
c.5298G>T (p.Val1766=)
c.2064G>T (p.Val688=)
c.1926G>T (p.Val642=)
c.4488G>T (p.Val1496=)
c.5253G>T (p.Val1751=)
c.5442G>T (p.Val1814=)
c.5235G>T (p.Val1745=)
c.1938G>T (p.Val646=)
n.1259G>T
c.5439G>T (p.Val1813=)
c.1763G>T
c.1950G>T (p.Val650=)
c.*5159G>T (n.*5159G>T)
c.2021-1448G>T (n.2021-1448G>T)
c.306G>T (p.Val102=)
c.849G>T (p.Val283=)
c.75G>T (p.Val25=)
n.5512G>T
n.5553G>T
 ClinVar dbSNP
17g.43049151C=CA2260762744BRCA1c.5373G= (p.Val1791=)
c.5376G= (p.Val1792=)
c.5250G= (p.Val1750=)
c.5370G= (p.Val1790=)
c.5298G= (p.Val1766=)
c.2064G= (p.Val688=)
c.1926G= (p.Val642=)
c.4488G= (p.Val1496=)
c.5253G= (p.Val1751=)
c.5442G= (p.Val1814=)
c.5235G= (p.Val1745=)
c.1938G= (p.Val646=)
n.1259G=
c.5439G= (p.Val1813=)
c.1763G=
c.1950G= (p.Val650=)
c.*5159G= (n.*5159G=)
c.2021-1448G= (n.2021-1448G=)
c.306G= (p.Val102=)
c.849G= (p.Val283=)
c.75G= (p.Val25=)
n.5512G=
n.5553G=
17g.43049151C>GCA500143294BRCA1c.5373G>C (p.Val1791=)
c.5376G>C (p.Val1792=)
c.5250G>C (p.Val1750=)
c.5370G>C (p.Val1790=)
c.5298G>C (p.Val1766=)
c.2064G>C (p.Val688=)
c.1926G>C (p.Val642=)
c.4488G>C (p.Val1496=)
c.5253G>C (p.Val1751=)
c.5442G>C (p.Val1814=)
c.5235G>C (p.Val1745=)
c.1938G>C (p.Val646=)
n.1259G>C
c.5439G>C (p.Val1813=)
c.1763G>C
c.1950G>C (p.Val650=)
c.*5159G>C (n.*5159G>C)
c.2021-1448G>C (n.2021-1448G>C)
c.306G>C (p.Val102=)
c.849G>C (p.Val283=)
c.75G>C (p.Val25=)
n.5512G>C
n.5553G>C
 ClinVar dbSNP
17g.43049151C>TCA16615642BRCA1c.5373G>A (p.Val1791=)
c.5376G>A (p.Val1792=)
c.5250G>A (p.Val1750=)
c.5370G>A (p.Val1790=)
c.5298G>A (p.Val1766=)
c.2064G>A (p.Val688=)
c.1926G>A (p.Val642=)
c.4488G>A (p.Val1496=)
c.5253G>A (p.Val1751=)
c.5442G>A (p.Val1814=)
c.5235G>A (p.Val1745=)
c.1938G>A (p.Val646=)
n.1259G>A
c.5439G>A (p.Val1813=)
c.1763G>A
c.1950G>A (p.Val650=)
c.*5159G>A (n.*5159G>A)
c.2021-1448G>A (n.2021-1448G>A)
c.306G>A (p.Val102=)
c.849G>A (p.Val283=)
c.75G>A (p.Val25=)
n.5512G>A
n.5553G>A
 ClinVar dbSNP
17g.43049152A=CA2260762745BRCA1c.5372T= (p.Val1791=)
c.5375T= (p.Val1792=)
c.5249T= (p.Val1750=)
c.5369T= (p.Val1790=)
c.5297T= (p.Val1766=)
c.2063T= (p.Val688=)
c.1925T= (p.Val642=)
c.4487T= (p.Val1496=)
c.5252T= (p.Val1751=)
c.5441T= (p.Val1814=)
c.5234T= (p.Val1745=)
c.1937T= (p.Val646=)
n.1258T=
c.5438T= (p.Val1813=)
c.1762T=
c.1949T= (p.Val650=)
c.*5158T= (n.*5158T=)
c.2021-1449T= (n.2021-1449T=)
c.305T= (p.Val102=)
c.848T= (p.Val283=)
c.74T= (p.Val25=)
n.5511T=
n.5552T=
17g.43049152A>CCA10590720BRCA1c.5372T>G (p.Val1791Gly)
c.5375T>G (p.Val1792Gly)
c.5249T>G (p.Val1750Gly)
c.5369T>G (p.Val1790Gly)
c.5297T>G (p.Val1766Gly)
c.2063T>G (p.Val688Gly)
c.1925T>G (p.Val642Gly)
c.4487T>G (p.Val1496Gly)
c.5252T>G (p.Val1751Gly)
c.5441T>G (p.Val1814Gly)
c.5234T>G (p.Val1745Gly)
c.1937T>G (p.Val646Gly)
n.1258T>G
c.5438T>G (p.Val1813Gly)
c.1762T>G
c.1949T>G (p.Val650Gly)
c.*5158T>G (n.*5158T>G)
c.2021-1449T>G (n.2021-1449T>G)
c.305T>G (p.Val102Gly)
c.848T>G (p.Val283Gly)
c.74T>G (p.Val25Gly)
n.5511T>G
n.5552T>G
 ClinVar dbSNP
17g.43049152A>GCA10590721BRCA1c.5372T>C (p.Val1791Ala)
c.5375T>C (p.Val1792Ala)
c.5249T>C (p.Val1750Ala)
c.5369T>C (p.Val1790Ala)
c.5297T>C (p.Val1766Ala)
c.2063T>C (p.Val688Ala)
c.1925T>C (p.Val642Ala)
c.4487T>C (p.Val1496Ala)
c.5252T>C (p.Val1751Ala)
c.5441T>C (p.Val1814Ala)
c.5234T>C (p.Val1745Ala)
c.1937T>C (p.Val646Ala)
n.1258T>C
c.5438T>C (p.Val1813Ala)
c.1762T>C
c.1949T>C (p.Val650Ala)
c.*5158T>C (n.*5158T>C)
c.2021-1449T>C (n.2021-1449T>C)
c.305T>C (p.Val102Ala)
c.848T>C (p.Val283Ala)
c.74T>C (p.Val25Ala)
n.5511T>C
n.5552T>C
 ClinVar dbSNP gnomAD v4
17g.43049152A>TCA10590722BRCA1c.5372T>A (p.Val1791Glu)
c.5375T>A (p.Val1792Glu)
c.5249T>A (p.Val1750Glu)
c.5369T>A (p.Val1790Glu)
c.5297T>A (p.Val1766Glu)
c.2063T>A (p.Val688Glu)
c.1925T>A (p.Val642Glu)
c.4487T>A (p.Val1496Glu)
c.5252T>A (p.Val1751Glu)
c.5441T>A (p.Val1814Glu)
c.5234T>A (p.Val1745Glu)
c.1937T>A (p.Val646Glu)
n.1258T>A
c.5438T>A (p.Val1813Glu)
c.1762T>A
c.1949T>A (p.Val650Glu)
c.*5158T>A (n.*5158T>A)
c.2021-1449T>A (n.2021-1449T>A)
c.305T>A (p.Val102Glu)
c.848T>A (p.Val283Glu)
c.74T>A (p.Val25Glu)
n.5511T>A
n.5552T>A
 ClinVar dbSNP
17g.43049153C>ACA10590723BRCA1c.5371G>T (p.Val1791Leu)
c.5374G>T (p.Val1792Leu)
c.5248G>T (p.Val1750Leu)
c.5368G>T (p.Val1790Leu)
c.5296G>T (p.Val1766Leu)
c.2062G>T (p.Val688Leu)
c.1924G>T (p.Val642Leu)
c.4486G>T (p.Val1496Leu)
c.5251G>T (p.Val1751Leu)
c.5440G>T (p.Val1814Leu)
c.5233G>T (p.Val1745Leu)
c.1936G>T (p.Val646Leu)
n.1257G>T
c.5437G>T (p.Val1813Leu)
c.1761G>T
c.1948G>T (p.Val650Leu)
c.*5157G>T (n.*5157G>T)
c.2021-1450G>T (n.2021-1450G>T)
c.304G>T (p.Val102Leu)
c.847G>T (p.Val283Leu)
c.73G>T (p.Val25Leu)
n.5510G>T
n.5551G>T
 ClinVar dbSNP
17g.43049153C=CA2260762746BRCA1c.5371G= (p.Val1791=)
c.5374G= (p.Val1792=)
c.5248G= (p.Val1750=)
c.5368G= (p.Val1790=)
c.5296G= (p.Val1766=)
c.2062G= (p.Val688=)
c.1924G= (p.Val642=)
c.4486G= (p.Val1496=)
c.5251G= (p.Val1751=)
c.5440G= (p.Val1814=)
c.5233G= (p.Val1745=)
c.1936G= (p.Val646=)
n.1257G=
c.5437G= (p.Val1813=)
c.1761G=
c.1948G= (p.Val650=)
c.*5157G= (n.*5157G=)
c.2021-1450G= (n.2021-1450G=)
c.304G= (p.Val102=)
c.847G= (p.Val283=)
c.73G= (p.Val25=)
n.5510G=
n.5551G=
17g.43049153C>GCA10590724BRCA1c.5371G>C (p.Val1791Leu)
c.5374G>C (p.Val1792Leu)
c.5248G>C (p.Val1750Leu)
c.5368G>C (p.Val1790Leu)
c.5296G>C (p.Val1766Leu)
c.2062G>C (p.Val688Leu)
c.1924G>C (p.Val642Leu)
c.4486G>C (p.Val1496Leu)
c.5251G>C (p.Val1751Leu)
c.5440G>C (p.Val1814Leu)
c.5233G>C (p.Val1745Leu)
c.1936G>C (p.Val646Leu)
n.1257G>C
c.5437G>C (p.Val1813Leu)
c.1761G>C
c.1948G>C (p.Val650Leu)
c.*5157G>C (n.*5157G>C)
c.2021-1450G>C (n.2021-1450G>C)
c.304G>C (p.Val102Leu)
c.847G>C (p.Val283Leu)
c.73G>C (p.Val25Leu)
n.5510G>C
n.5551G>C
 ClinVar dbSNP
17g.43049153C>TCA10590725BRCA1c.5371G>A (p.Val1791Met)
c.5374G>A (p.Val1792Met)
c.5248G>A (p.Val1750Met)
c.5368G>A (p.Val1790Met)
c.5296G>A (p.Val1766Met)
c.2062G>A (p.Val688Met)
c.1924G>A (p.Val642Met)
c.4486G>A (p.Val1496Met)
c.5251G>A (p.Val1751Met)
c.5440G>A (p.Val1814Met)
c.5233G>A (p.Val1745Met)
c.1936G>A (p.Val646Met)
n.1257G>A
c.5437G>A (p.Val1813Met)
c.1761G>A
c.1948G>A (p.Val650Met)
c.*5157G>A (n.*5157G>A)
c.2021-1450G>A (n.2021-1450G>A)
c.304G>A (p.Val102Met)
c.847G>A (p.Val283Met)
c.73G>A (p.Val25Met)
n.5510G>A
n.5551G>A
 ClinVar dbSNP gnomAD v4
17g.43049154delCA2733924826BRCA1c.5371del (p.Val1791Ter)
c.5374del (p.Val1792Ter)
c.5248del (p.Val1750Ter)
c.5368del (p.Val1790Ter)
c.5296del (p.Val1766Ter)
c.2062del (p.Val688Ter)
c.1924del (p.Val642Ter)
c.4486del (p.Val1496Ter)
c.5251del (p.Val1751Ter)
c.5440del (p.Val1814Ter)
c.5233del (p.Val1745Ter)
c.1936del (p.Val646Ter)
n.1257del
c.5437del (p.Val1813Ter)
c.1761del
c.1948del (p.Val650Ter)
c.*5157del (n.*5157del)
c.2021-1450del (n.2021-1450del)
c.304del (p.Val102Ter)
c.847del (p.Val283Ter)
c.73del (p.Val25Ter)
n.5510del
n.5551del
 dbSNP
17g.43049154C>ACA500143296BRCA1c.5370G>T (p.Val1790=)
c.5373G>T (p.Val1791=)
c.5247G>T (p.Val1749=)
c.5367G>T (p.Val1789=)
c.5295G>T (p.Val1765=)
c.2061G>T (p.Val687=)
c.1923G>T (p.Val641=)
c.4485G>T (p.Val1495=)
c.5250G>T (p.Val1750=)
c.5439G>T (p.Val1813=)
c.5232G>T (p.Val1744=)
c.1935G>T (p.Val645=)
n.1256G>T
c.5436G>T (p.Val1812=)
c.1760G>T
c.1947G>T (p.Val649=)
c.*5156G>T (n.*5156G>T)
c.2021-1451G>T (n.2021-1451G>T)
c.303G>T (p.Val101=)
c.846G>T (p.Val282=)
c.72G>T (p.Val24=)
n.5509G>T
n.5550G>T
 ClinVar dbSNP
17g.43049154C=CA2260762747BRCA1c.5370G= (p.Val1790=)
c.5373G= (p.Val1791=)
c.5247G= (p.Val1749=)
c.5367G= (p.Val1789=)
c.5295G= (p.Val1765=)
c.2061G= (p.Val687=)
c.1923G= (p.Val641=)
c.4485G= (p.Val1495=)
c.5250G= (p.Val1750=)
c.5439G= (p.Val1813=)
c.5232G= (p.Val1744=)
c.1935G= (p.Val645=)
n.1256G=
c.5436G= (p.Val1812=)
c.1760G=
c.1947G= (p.Val649=)
c.*5156G= (n.*5156G=)
c.2021-1451G= (n.2021-1451G=)
c.303G= (p.Val101=)
c.846G= (p.Val282=)
c.72G= (p.Val24=)
n.5509G=
n.5550G=
17g.43049154C>GCA500143297BRCA1c.5370G>C (p.Val1790=)
c.5373G>C (p.Val1791=)
c.5247G>C (p.Val1749=)
c.5367G>C (p.Val1789=)
c.5295G>C (p.Val1765=)
c.2061G>C (p.Val687=)
c.1923G>C (p.Val641=)
c.4485G>C (p.Val1495=)
c.5250G>C (p.Val1750=)
c.5439G>C (p.Val1813=)
c.5232G>C (p.Val1744=)
c.1935G>C (p.Val645=)
n.1256G>C
c.5436G>C (p.Val1812=)
c.1760G>C
c.1947G>C (p.Val649=)
c.*5156G>C (n.*5156G>C)
c.2021-1451G>C (n.2021-1451G>C)
c.303G>C (p.Val101=)
c.846G>C (p.Val282=)
c.72G>C (p.Val24=)
n.5509G>C
n.5550G>C
 ClinVar dbSNP
17g.43049154C>TCA500143298BRCA1c.5370G>A (p.Val1790=)
c.5373G>A (p.Val1791=)
c.5247G>A (p.Val1749=)
c.5367G>A (p.Val1789=)
c.5295G>A (p.Val1765=)
c.2061G>A (p.Val687=)
c.1923G>A (p.Val641=)
c.4485G>A (p.Val1495=)
c.5250G>A (p.Val1750=)
c.5439G>A (p.Val1813=)
c.5232G>A (p.Val1744=)
c.1935G>A (p.Val645=)
n.1256G>A
c.5436G>A (p.Val1812=)
c.1760G>A
c.1947G>A (p.Val649=)
c.*5156G>A (n.*5156G>A)
c.2021-1451G>A (n.2021-1451G>A)
c.303G>A (p.Val101=)
c.846G>A (p.Val282=)
c.72G>A (p.Val24=)
n.5509G>A
n.5550G>A
 ClinVar dbSNP
17g.43049155A=CA2260762748BRCA1c.5369T= (p.Val1790=)
c.5372T= (p.Val1791=)
c.5246T= (p.Val1749=)
c.5366T= (p.Val1789=)
c.5294T= (p.Val1765=)
c.2060T= (p.Val687=)
c.1922T= (p.Val641=)
c.4484T= (p.Val1495=)
c.5249T= (p.Val1750=)
c.5438T= (p.Val1813=)
c.5231T= (p.Val1744=)
c.1934T= (p.Val645=)
n.1255T=
c.5435T= (p.Val1812=)
c.1759T=
c.1946T= (p.Val649=)
c.*5155T= (n.*5155T=)
c.2021-1452T= (n.2021-1452T=)
c.302T= (p.Val101=)
c.845T= (p.Val282=)
c.71T= (p.Val24=)
n.5508T=
n.5549T=
17g.43049155A>CCA10590726BRCA1c.5369T>G (p.Val1790Gly)
c.5372T>G (p.Val1791Gly)
c.5246T>G (p.Val1749Gly)
c.5366T>G (p.Val1789Gly)
c.5294T>G (p.Val1765Gly)
c.2060T>G (p.Val687Gly)
c.1922T>G (p.Val641Gly)
c.4484T>G (p.Val1495Gly)
c.5249T>G (p.Val1750Gly)
c.5438T>G (p.Val1813Gly)
c.5231T>G (p.Val1744Gly)
c.1934T>G (p.Val645Gly)
n.1255T>G
c.5435T>G (p.Val1812Gly)
c.1759T>G
c.1946T>G (p.Val649Gly)
c.*5155T>G (n.*5155T>G)
c.2021-1452T>G (n.2021-1452T>G)
c.302T>G (p.Val101Gly)
c.845T>G (p.Val282Gly)
c.71T>G (p.Val24Gly)
n.5508T>G
n.5549T>G
 ClinVar dbSNP
17g.43049155A>GCA350379BRCA1c.5369T>C (p.Val1790Ala)
c.5372T>C (p.Val1791Ala)
c.5246T>C (p.Val1749Ala)
c.5366T>C (p.Val1789Ala)
c.5294T>C (p.Val1765Ala)
c.2060T>C (p.Val687Ala)
c.1922T>C (p.Val641Ala)
c.4484T>C (p.Val1495Ala)
c.5249T>C (p.Val1750Ala)
c.5438T>C (p.Val1813Ala)
c.5231T>C (p.Val1744Ala)
c.1934T>C (p.Val645Ala)
n.1255T>C
c.5435T>C (p.Val1812Ala)
c.1759T>C
c.1946T>C (p.Val649Ala)
c.*5155T>C (n.*5155T>C)
c.2021-1452T>C (n.2021-1452T>C)
c.302T>C (p.Val101Ala)
c.845T>C (p.Val282Ala)
c.71T>C (p.Val24Ala)
n.5508T>C
n.5549T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049155A>TCA10590727BRCA1c.5369T>A (p.Val1790Glu)
c.5372T>A (p.Val1791Glu)
c.5246T>A (p.Val1749Glu)
c.5366T>A (p.Val1789Glu)
c.5294T>A (p.Val1765Glu)
c.2060T>A (p.Val687Glu)
c.1922T>A (p.Val641Glu)
c.4484T>A (p.Val1495Glu)
c.5249T>A (p.Val1750Glu)
c.5438T>A (p.Val1813Glu)
c.5231T>A (p.Val1744Glu)
c.1934T>A (p.Val645Glu)
n.1255T>A
c.5435T>A (p.Val1812Glu)
c.1759T>A
c.1946T>A (p.Val649Glu)
c.*5155T>A (n.*5155T>A)
c.2021-1452T>A (n.2021-1452T>A)
c.302T>A (p.Val101Glu)
c.845T>A (p.Val282Glu)
c.71T>A (p.Val24Glu)
n.5508T>A
n.5549T>A
 ClinVar dbSNP
17g.43049156C>ACA003539BRCA1c.5368G>T (p.Val1790Leu)
c.5371G>T (p.Val1791Leu)
c.5245G>T (p.Val1749Leu)
c.5365G>T (p.Val1789Leu)
c.5293G>T (p.Val1765Leu)
c.2059G>T (p.Val687Leu)
c.1921G>T (p.Val641Leu)
c.4483G>T (p.Val1495Leu)
c.5248G>T (p.Val1750Leu)
c.5437G>T (p.Val1813Leu)
c.5230G>T (p.Val1744Leu)
c.1933G>T (p.Val645Leu)
n.1254G>T
c.5434G>T (p.Val1812Leu)
c.1758G>T
c.1945G>T (p.Val649Leu)
c.*5154G>T (n.*5154G>T)
c.2021-1453G>T (n.2021-1453G>T)
c.301G>T (p.Val101Leu)
c.844G>T (p.Val282Leu)
c.70G>T (p.Val24Leu)
n.5507G>T
n.5548G>T
 ClinVar dbSNP gnomAD v4
17g.43049156C=CA2260762749BRCA1c.5368G= (p.Val1790=)
c.5371G= (p.Val1791=)
c.5245G= (p.Val1749=)
c.5365G= (p.Val1789=)
c.5293G= (p.Val1765=)
c.2059G= (p.Val687=)
c.1921G= (p.Val641=)
c.4483G= (p.Val1495=)
c.5248G= (p.Val1750=)
c.5437G= (p.Val1813=)
c.5230G= (p.Val1744=)
c.1933G= (p.Val645=)
n.1254G=
c.5434G= (p.Val1812=)
c.1758G=
c.1945G= (p.Val649=)
c.*5154G= (n.*5154G=)
c.2021-1453G= (n.2021-1453G=)
c.301G= (p.Val101=)
c.844G= (p.Val282=)
c.70G= (p.Val24=)
n.5507G=
n.5548G=
17g.43049156C>GCA10590728BRCA1c.5368G>C (p.Val1790Leu)
c.5371G>C (p.Val1791Leu)
c.5245G>C (p.Val1749Leu)
c.5365G>C (p.Val1789Leu)
c.5293G>C (p.Val1765Leu)
c.2059G>C (p.Val687Leu)
c.1921G>C (p.Val641Leu)
c.4483G>C (p.Val1495Leu)
c.5248G>C (p.Val1750Leu)
c.5437G>C (p.Val1813Leu)
c.5230G>C (p.Val1744Leu)
c.1933G>C (p.Val645Leu)
n.1254G>C
c.5434G>C (p.Val1812Leu)
c.1758G>C
c.1945G>C (p.Val649Leu)
c.*5154G>C (n.*5154G>C)
c.2021-1453G>C (n.2021-1453G>C)
c.301G>C (p.Val101Leu)
c.844G>C (p.Val282Leu)
c.70G>C (p.Val24Leu)
n.5507G>C
n.5548G>C
 ClinVar dbSNP
17g.43049156C>TCA10580484BRCA1c.5368G>A (p.Val1790Met)
c.5371G>A (p.Val1791Met)
c.5245G>A (p.Val1749Met)
c.5365G>A (p.Val1789Met)
c.5293G>A (p.Val1765Met)
c.2059G>A (p.Val687Met)
c.1921G>A (p.Val641Met)
c.4483G>A (p.Val1495Met)
c.5248G>A (p.Val1750Met)
c.5437G>A (p.Val1813Met)
c.5230G>A (p.Val1744Met)
c.1933G>A (p.Val645Met)
n.1254G>A
c.5434G>A (p.Val1812Met)
c.1758G>A
c.1945G>A (p.Val649Met)
c.*5154G>A (n.*5154G>A)
c.2021-1453G>A (n.2021-1453G>A)
c.301G>A (p.Val101Met)
c.844G>A (p.Val282Met)
c.70G>A (p.Val24Met)
n.5507G>A
n.5548G>A
 ClinVar dbSNP
17g.43049157A=CA2260762750BRCA1c.5367T= (p.Ser1789=)
c.5370T= (p.Ser1790=)
c.5244T= (p.Ser1748=)
c.5364T= (p.Ser1788=)
c.5292T= (p.Ser1764=)
c.2058T= (p.Ser686=)
c.1920T= (p.Ser640=)
c.4482T= (p.Ser1494=)
c.5247T= (p.Ser1749=)
c.5436T= (p.Ser1812=)
c.5229T= (p.Ser1743=)
c.1932T= (p.Ser644=)
n.1253T=
c.5433T= (p.Ser1811=)
c.1757T=
c.1944T= (p.Ser648=)
c.*5153T= (n.*5153T=)
c.2021-1454T= (n.2021-1454T=)
c.300T= (p.Ser100=)
c.843T= (p.Ser281=)
c.69T= (p.Ser23=)
n.5506T=
n.5547T=
17g.43049157A>CCA500143299BRCA1c.5367T>G (p.Ser1789=)
c.5370T>G (p.Ser1790=)
c.5244T>G (p.Ser1748=)
c.5364T>G (p.Ser1788=)
c.5292T>G (p.Ser1764=)
c.2058T>G (p.Ser686=)
c.1920T>G (p.Ser640=)
c.4482T>G (p.Ser1494=)
c.5247T>G (p.Ser1749=)
c.5436T>G (p.Ser1812=)
c.5229T>G (p.Ser1743=)
c.1932T>G (p.Ser644=)
n.1253T>G
c.5433T>G (p.Ser1811=)
c.1757T>G
c.1944T>G (p.Ser648=)
c.*5153T>G (n.*5153T>G)
c.2021-1454T>G (n.2021-1454T>G)
c.300T>G (p.Ser100=)
c.843T>G (p.Ser281=)
c.69T>G (p.Ser23=)
n.5506T>G
n.5547T>G
 ClinVar dbSNP
17g.43049157A>GCA500143300BRCA1c.5367T>C (p.Ser1789=)
c.5370T>C (p.Ser1790=)
c.5244T>C (p.Ser1748=)
c.5364T>C (p.Ser1788=)
c.5292T>C (p.Ser1764=)
c.2058T>C (p.Ser686=)
c.1920T>C (p.Ser640=)
c.4482T>C (p.Ser1494=)
c.5247T>C (p.Ser1749=)
c.5436T>C (p.Ser1812=)
c.5229T>C (p.Ser1743=)
c.1932T>C (p.Ser644=)
n.1253T>C
c.5433T>C (p.Ser1811=)
c.1757T>C
c.1944T>C (p.Ser648=)
c.*5153T>C (n.*5153T>C)
c.2021-1454T>C (n.2021-1454T>C)
c.300T>C (p.Ser100=)
c.843T>C (p.Ser281=)
c.69T>C (p.Ser23=)
n.5506T>C
n.5547T>C
 ClinVar dbSNP
17g.43049157A>TCA500143301BRCA1c.5367T>A (p.Ser1789=)
c.5370T>A (p.Ser1790=)
c.5244T>A (p.Ser1748=)
c.5364T>A (p.Ser1788=)
c.5292T>A (p.Ser1764=)
c.2058T>A (p.Ser686=)
c.1920T>A (p.Ser640=)
c.4482T>A (p.Ser1494=)
c.5247T>A (p.Ser1749=)
c.5436T>A (p.Ser1812=)
c.5229T>A (p.Ser1743=)
c.1932T>A (p.Ser644=)
n.1253T>A
c.5433T>A (p.Ser1811=)
c.1757T>A
c.1944T>A (p.Ser648=)
c.*5153T>A (n.*5153T>A)
c.2021-1454T>A (n.2021-1454T>A)
c.300T>A (p.Ser100=)
c.843T>A (p.Ser281=)
c.69T>A (p.Ser23=)
n.5506T>A
n.5547T>A
 ClinVar dbSNP
17g.43049158G>ACA10590729BRCA1c.5366C>T (p.Ser1789Phe)
c.5369C>T (p.Ser1790Phe)
c.5243C>T (p.Ser1748Phe)
c.5363C>T (p.Ser1788Phe)
c.5291C>T (p.Ser1764Phe)
c.2057C>T (p.Ser686Phe)
c.1919C>T (p.Ser640Phe)
c.4481C>T (p.Ser1494Phe)
c.5246C>T (p.Ser1749Phe)
c.5435C>T (p.Ser1812Phe)
c.5228C>T (p.Ser1743Phe)
c.1931C>T (p.Ser644Phe)
n.1252C>T
c.5432C>T (p.Ser1811Phe)
c.1756C>T
c.1943C>T (p.Ser648Phe)
c.*5152C>T (n.*5152C>T)
c.2021-1455C>T (n.2021-1455C>T)
c.299C>T (p.Ser100Phe)
c.842C>T (p.Ser281Phe)
c.68C>T (p.Ser23Phe)
n.5505C>T
n.5546C>T
 ClinVar dbSNP
17g.43049158G>CCA10590730BRCA1c.5366C>G (p.Ser1789Cys)
c.5369C>G (p.Ser1790Cys)
c.5243C>G (p.Ser1748Cys)
c.5363C>G (p.Ser1788Cys)
c.5291C>G (p.Ser1764Cys)
c.2057C>G (p.Ser686Cys)
c.1919C>G (p.Ser640Cys)
c.4481C>G (p.Ser1494Cys)
c.5246C>G (p.Ser1749Cys)
c.5435C>G (p.Ser1812Cys)
c.5228C>G (p.Ser1743Cys)
c.1931C>G (p.Ser644Cys)
n.1252C>G
c.5432C>G (p.Ser1811Cys)
c.1756C>G
c.1943C>G (p.Ser648Cys)
c.*5152C>G (n.*5152C>G)
c.2021-1455C>G (n.2021-1455C>G)
c.299C>G (p.Ser100Cys)
c.842C>G (p.Ser281Cys)
c.68C>G (p.Ser23Cys)
n.5505C>G
n.5546C>G
 ClinVar dbSNP
17g.43049158G=CA2260762752BRCA1c.5366C= (p.Ser1789=)
c.5369C= (p.Ser1790=)
c.5243C= (p.Ser1748=)
c.5363C= (p.Ser1788=)
c.5291C= (p.Ser1764=)
c.2057C= (p.Ser686=)
c.1919C= (p.Ser640=)
c.4481C= (p.Ser1494=)
c.5246C= (p.Ser1749=)
c.5435C= (p.Ser1812=)
c.5228C= (p.Ser1743=)
c.1931C= (p.Ser644=)
n.1252C=
c.5432C= (p.Ser1811=)
c.1756C=
c.1943C= (p.Ser648=)
c.*5152C= (n.*5152C=)
c.2021-1455C= (n.2021-1455C=)
c.299C= (p.Ser100=)
c.842C= (p.Ser281=)
c.68C= (p.Ser23=)
n.5505C=
n.5546C=
17g.43049158G>TCA10590731BRCA1c.5366C>A (p.Ser1789Tyr)
c.5369C>A (p.Ser1790Tyr)
c.5243C>A (p.Ser1748Tyr)
c.5363C>A (p.Ser1788Tyr)
c.5291C>A (p.Ser1764Tyr)
c.2057C>A (p.Ser686Tyr)
c.1919C>A (p.Ser640Tyr)
c.4481C>A (p.Ser1494Tyr)
c.5246C>A (p.Ser1749Tyr)
c.5435C>A (p.Ser1812Tyr)
c.5228C>A (p.Ser1743Tyr)
c.1931C>A (p.Ser644Tyr)
n.1252C>A
c.5432C>A (p.Ser1811Tyr)
c.1756C>A
c.1943C>A (p.Ser648Tyr)
c.*5152C>A (n.*5152C>A)
c.2021-1455C>A (n.2021-1455C>A)
c.299C>A (p.Ser100Tyr)
c.842C>A (p.Ser281Tyr)
c.68C>A (p.Ser23Tyr)
n.5505C>A
n.5546C>A
 ClinVar dbSNP
17g.43049158_43049159delinsGACA2260762751BRCA1c.5365_5366delinsTC (p.Ser1789=)
c.5368_5369delinsTC (p.Ser1790=)
c.5242_5243delinsTC (p.Ser1748=)
c.5362_5363delinsTC (p.Ser1788=)
c.5290_5291delinsTC (p.Ser1764=)
c.2056_2057delinsTC (p.Ser686=)
c.1918_1919delinsTC (p.Ser640=)
c.4480_4481delinsTC (p.Ser1494=)
c.5245_5246delinsTC (p.Ser1749=)
c.5434_5435delinsTC (p.Ser1812=)
c.5227_5228delinsTC (p.Ser1743=)
c.1930_1931delinsTC (p.Ser644=)
n.1251_1252delinsTC
c.5431_5432delinsTC (p.Ser1811=)
c.1755_1756delinsTC
c.1942_1943delinsTC (p.Ser648=)
c.*5151_*5152delinsTC (n.*5151_*5152delinsTC)
c.2021-1456_2021-1455delinsTC (n.2021-1456_2021-1455delinsTC)
c.298_299delinsTC (p.Ser100=)
c.841_842delinsTC (p.Ser281=)
c.67_68delinsTC (p.Ser23=)
n.5504_5505delinsTC
n.5545_5546delinsTC
17g.43049159A=CA2260762753BRCA1c.5365T= (p.Ser1789=)
c.5368T= (p.Ser1790=)
c.5242T= (p.Ser1748=)
c.5362T= (p.Ser1788=)
c.5290T= (p.Ser1764=)
c.2056T= (p.Ser686=)
c.1918T= (p.Ser640=)
c.4480T= (p.Ser1494=)
c.5245T= (p.Ser1749=)
c.5434T= (p.Ser1812=)
c.5227T= (p.Ser1743=)
c.1930T= (p.Ser644=)
n.1251T=
c.5431T= (p.Ser1811=)
c.1755T=
c.1942T= (p.Ser648=)
c.*5151T= (n.*5151T=)
c.2021-1456T= (n.2021-1456T=)
c.298T= (p.Ser100=)
c.841T= (p.Ser281=)
c.67T= (p.Ser23=)
n.5504T=
n.5545T=
17g.43049159A>CCA10590732BRCA1c.5365T>G (p.Ser1789Ala)
c.5368T>G (p.Ser1790Ala)
c.5242T>G (p.Ser1748Ala)
c.5362T>G (p.Ser1788Ala)
c.5290T>G (p.Ser1764Ala)
c.2056T>G (p.Ser686Ala)
c.1918T>G (p.Ser640Ala)
c.4480T>G (p.Ser1494Ala)
c.5245T>G (p.Ser1749Ala)
c.5434T>G (p.Ser1812Ala)
c.5227T>G (p.Ser1743Ala)
c.1930T>G (p.Ser644Ala)
n.1251T>G
c.5431T>G (p.Ser1811Ala)
c.1755T>G
c.1942T>G (p.Ser648Ala)
c.*5151T>G (n.*5151T>G)
c.2021-1456T>G (n.2021-1456T>G)
c.298T>G (p.Ser100Ala)
c.841T>G (p.Ser281Ala)
c.67T>G (p.Ser23Ala)
n.5504T>G
n.5545T>G
 ClinVar dbSNP
17g.43049159A>GCA10590733BRCA1c.5365T>C (p.Ser1789Pro)
c.5368T>C (p.Ser1790Pro)
c.5242T>C (p.Ser1748Pro)
c.5362T>C (p.Ser1788Pro)
c.5290T>C (p.Ser1764Pro)
c.2056T>C (p.Ser686Pro)
c.1918T>C (p.Ser640Pro)
c.4480T>C (p.Ser1494Pro)
c.5245T>C (p.Ser1749Pro)
c.5434T>C (p.Ser1812Pro)
c.5227T>C (p.Ser1743Pro)
c.1930T>C (p.Ser644Pro)
n.1251T>C
c.5431T>C (p.Ser1811Pro)
c.1755T>C
c.1942T>C (p.Ser648Pro)
c.*5151T>C (n.*5151T>C)
c.2021-1456T>C (n.2021-1456T>C)
c.298T>C (p.Ser100Pro)
c.841T>C (p.Ser281Pro)
c.67T>C (p.Ser23Pro)
n.5504T>C
n.5545T>C
 ClinVar dbSNP
17g.43049159A>TCA10590734BRCA1c.5365T>A (p.Ser1789Thr)
c.5368T>A (p.Ser1790Thr)
c.5242T>A (p.Ser1748Thr)
c.5362T>A (p.Ser1788Thr)
c.5290T>A (p.Ser1764Thr)
c.2056T>A (p.Ser686Thr)
c.1918T>A (p.Ser640Thr)
c.4480T>A (p.Ser1494Thr)
c.5245T>A (p.Ser1749Thr)
c.5434T>A (p.Ser1812Thr)
c.5227T>A (p.Ser1743Thr)
c.1930T>A (p.Ser644Thr)
n.1251T>A
c.5431T>A (p.Ser1811Thr)
c.1755T>A
c.1942T>A (p.Ser648Thr)
c.*5151T>A (n.*5151T>A)
c.2021-1456T>A (n.2021-1456T>A)
c.298T>A (p.Ser100Thr)
c.841T>A (p.Ser281Thr)
c.67T>A (p.Ser23Thr)
n.5504T>A
n.5545T>A
 ClinVar dbSNP gnomAD v4
17g.43049160delCA10584545BRCA1c.5365del (p.Ser1789LeufsTer3)
c.5368del (p.Ser1790LeufsTer3)
c.5242del (p.Ser1748LeufsTer3)
c.5362del (p.Ser1788LeufsTer3)
c.5290del (p.Ser1764LeufsTer3)
c.2056del (p.Ser686LeufsTer3)
c.1918del (p.Ser640LeufsTer3)
c.4480del (p.Ser1494LeufsTer3)
c.5245del (p.Ser1749LeufsTer3)
c.5434del (p.Ser1812LeufsTer3)
c.5227del (p.Ser1743LeufsTer3)
c.1930del (p.Ser644LeufsTer3)
n.1251del
c.5431del (p.Ser1811LeufsTer3)
c.1755del
c.1942del (p.Ser648LeufsTer3)
c.*5151del (n.*5151del)
c.2021-1456del (n.2021-1456del)
c.298del (p.Ser100LeufsTer3)
c.841del (p.Ser281LeufsTer3)
c.67del (p.Ser23LeufsTer3)
n.5504del
n.5545del
 ClinVar dbSNP
17g.43049160A=CA2260762754BRCA1c.5364T= (p.Ala1788=)
c.5367T= (p.Ala1789=)
c.5241T= (p.Ala1747=)
c.5361T= (p.Ala1787=)
c.5289T= (p.Ala1763=)
c.2055T= (p.Ala685=)
c.1917T= (p.Ala639=)
c.4479T= (p.Ala1493=)
c.5244T= (p.Ala1748=)
c.5433T= (p.Ala1811=)
c.5226T= (p.Ala1742=)
c.1929T= (p.Ala643=)
n.1250T=
c.5430T= (p.Ala1810=)
c.1754T=
c.1941T= (p.Ala647=)
c.*5150T= (n.*5150T=)
c.2021-1457T= (n.2021-1457T=)
c.297T= (p.Ala99=)
c.840T= (p.Ala280=)
c.66T= (p.Ala22=)
n.5503T=
n.5544T=
17g.43049160A>CCA500143302BRCA1c.5364T>G (p.Ala1788=)
c.5367T>G (p.Ala1789=)
c.5241T>G (p.Ala1747=)
c.5361T>G (p.Ala1787=)
c.5289T>G (p.Ala1763=)
c.2055T>G (p.Ala685=)
c.1917T>G (p.Ala639=)
c.4479T>G (p.Ala1493=)
c.5244T>G (p.Ala1748=)
c.5433T>G (p.Ala1811=)
c.5226T>G (p.Ala1742=)
c.1929T>G (p.Ala643=)
n.1250T>G
c.5430T>G (p.Ala1810=)
c.1754T>G
c.1941T>G (p.Ala647=)
c.*5150T>G (n.*5150T>G)
c.2021-1457T>G (n.2021-1457T>G)
c.297T>G (p.Ala99=)
c.840T>G (p.Ala280=)
c.66T>G (p.Ala22=)
n.5503T>G
n.5544T>G
 ClinVar dbSNP
17g.43049160A>GCA500143303BRCA1c.5364T>C (p.Ala1788=)
c.5367T>C (p.Ala1789=)
c.5241T>C (p.Ala1747=)
c.5361T>C (p.Ala1787=)
c.5289T>C (p.Ala1763=)
c.2055T>C (p.Ala685=)
c.1917T>C (p.Ala639=)
c.4479T>C (p.Ala1493=)
c.5244T>C (p.Ala1748=)
c.5433T>C (p.Ala1811=)
c.5226T>C (p.Ala1742=)
c.1929T>C (p.Ala643=)
n.1250T>C
c.5430T>C (p.Ala1810=)
c.1754T>C
c.1941T>C (p.Ala647=)
c.*5150T>C (n.*5150T>C)
c.2021-1457T>C (n.2021-1457T>C)
c.297T>C (p.Ala99=)
c.840T>C (p.Ala280=)
c.66T>C (p.Ala22=)
n.5503T>C
n.5544T>C
 ClinVar dbSNP
17g.43049160A>TCA500143304BRCA1c.5364T>A (p.Ala1788=)
c.5367T>A (p.Ala1789=)
c.5241T>A (p.Ala1747=)
c.5361T>A (p.Ala1787=)
c.5289T>A (p.Ala1763=)
c.2055T>A (p.Ala685=)
c.1917T>A (p.Ala639=)
c.4479T>A (p.Ala1493=)
c.5244T>A (p.Ala1748=)
c.5433T>A (p.Ala1811=)
c.5226T>A (p.Ala1742=)
c.1929T>A (p.Ala643=)
n.1250T>A
c.5430T>A (p.Ala1810=)
c.1754T>A
c.1941T>A (p.Ala647=)
c.*5150T>A (n.*5150T>A)
c.2021-1457T>A (n.2021-1457T>A)
c.297T>A (p.Ala99=)
c.840T>A (p.Ala280=)
c.66T>A (p.Ala22=)
n.5503T>A
n.5544T>A
 ClinVar dbSNP
17g.43049160_43049161delinsAGCA2260762756BRCA1c.5363_5364delinsCT (p.Ala1788=)
c.5366_5367delinsCT (p.Ala1789=)
c.5240_5241delinsCT (p.Ala1747=)
c.5360_5361delinsCT (p.Ala1787=)
c.5288_5289delinsCT (p.Ala1763=)
c.2054_2055delinsCT (p.Ala685=)
c.1916_1917delinsCT (p.Ala639=)
c.4478_4479delinsCT (p.Ala1493=)
c.5243_5244delinsCT (p.Ala1748=)
c.5432_5433delinsCT (p.Ala1811=)
c.5225_5226delinsCT (p.Ala1742=)
c.1928_1929delinsCT (p.Ala643=)
n.1249_1250delinsCT
c.5429_5430delinsCT (p.Ala1810=)
c.1753_1754delinsCT
c.1940_1941delinsCT (p.Ala647=)
c.*5149_*5150delinsCT (n.*5149_*5150delinsCT)
c.2021-1458_2021-1457delinsCT (n.2021-1458_2021-1457delinsCT)
c.296_297delinsCT (p.Ala99=)
c.839_840delinsCT (p.Ala280=)
c.65_66delinsCT (p.Ala22=)
n.5502_5503delinsCT
n.5543_5544delinsCT
17g.43049160_43049162delinsAGCCA2260762755BRCA1c.5362_5364delinsGCT (p.Ala1788=)
c.5365_5367delinsGCT (p.Ala1789=)
c.5239_5241delinsGCT (p.Ala1747=)
c.5359_5361delinsGCT (p.Ala1787=)
c.5287_5289delinsGCT (p.Ala1763=)
c.2053_2055delinsGCT (p.Ala685=)
c.1915_1917delinsGCT (p.Ala639=)
c.4477_4479delinsGCT (p.Ala1493=)
c.5242_5244delinsGCT (p.Ala1748=)
c.5431_5433delinsGCT (p.Ala1811=)
c.5224_5226delinsGCT (p.Ala1742=)
c.1927_1929delinsGCT (p.Ala643=)
n.1248_1250delinsGCT
c.5428_5430delinsGCT (p.Ala1810=)
c.1752_1754delinsGCT
c.1939_1941delinsGCT (p.Ala647=)
c.*5148_*5150delinsGCT (n.*5148_*5150delinsGCT)
c.2021-1459_2021-1457delinsGCT (n.2021-1459_2021-1457delinsGCT)
c.295_297delinsGCT (p.Ala99=)
c.838_840delinsGCT (p.Ala280=)
c.64_66delinsGCT (p.Ala22=)
n.5501_5503delinsGCT
n.5542_5544delinsGCT
17g.43049161delCA054762BRCA1c.5363del (p.Ala1788ValfsTer4)
c.5366del (p.Ala1789ValfsTer4)
c.5240del (p.Ala1747ValfsTer4)
c.5360del (p.Ala1787ValfsTer4)
c.5288del (p.Ala1763ValfsTer4)
c.2054del (p.Ala685ValfsTer4)
c.1916del (p.Ala639ValfsTer4)
c.4478del (p.Ala1493ValfsTer4)
c.5243del (p.Ala1748ValfsTer4)
c.5432del (p.Ala1811ValfsTer4)
c.5225del (p.Ala1742ValfsTer4)
c.1928del (p.Ala643ValfsTer4)
n.1249del
c.5429del (p.Ala1810ValfsTer4)
c.1753del
c.1940del (p.Ala647ValfsTer4)
c.*5149del (n.*5149del)
c.2021-1458del (n.2021-1458del)
c.296del (p.Ala99ValfsTer4)
c.839del (p.Ala280ValfsTer4)
c.65del (p.Ala22ValfsTer4)
n.5502del
n.5543del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049161G>ACA10590735BRCA1c.5363C>T (p.Ala1788Val)
c.5366C>T (p.Ala1789Val)
c.5240C>T (p.Ala1747Val)
c.5360C>T (p.Ala1787Val)
c.5288C>T (p.Ala1763Val)
c.2054C>T (p.Ala685Val)
c.1916C>T (p.Ala639Val)
c.4478C>T (p.Ala1493Val)
c.5243C>T (p.Ala1748Val)
c.5432C>T (p.Ala1811Val)
c.5225C>T (p.Ala1742Val)
c.1928C>T (p.Ala643Val)
n.1249C>T
c.5429C>T (p.Ala1810Val)
c.1753C>T
c.1940C>T (p.Ala647Val)
c.*5149C>T (n.*5149C>T)
c.2021-1458C>T (n.2021-1458C>T)
c.296C>T (p.Ala99Val)
c.839C>T (p.Ala280Val)
c.65C>T (p.Ala22Val)
n.5502C>T
n.5543C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43049161G>CCA10590736BRCA1c.5363C>G (p.Ala1788Gly)
c.5366C>G (p.Ala1789Gly)
c.5240C>G (p.Ala1747Gly)
c.5360C>G (p.Ala1787Gly)
c.5288C>G (p.Ala1763Gly)
c.2054C>G (p.Ala685Gly)
c.1916C>G (p.Ala639Gly)
c.4478C>G (p.Ala1493Gly)
c.5243C>G (p.Ala1748Gly)
c.5432C>G (p.Ala1811Gly)
c.5225C>G (p.Ala1742Gly)
c.1928C>G (p.Ala643Gly)
n.1249C>G
c.5429C>G (p.Ala1810Gly)
c.1753C>G
c.1940C>G (p.Ala647Gly)
c.*5149C>G (n.*5149C>G)
c.2021-1458C>G (n.2021-1458C>G)
c.296C>G (p.Ala99Gly)
c.839C>G (p.Ala280Gly)
c.65C>G (p.Ala22Gly)
n.5502C>G
n.5543C>G
 ClinVar dbSNP
17g.43049161G=CA2260762757BRCA1c.5363C= (p.Ala1788=)
c.5366C= (p.Ala1789=)
c.5240C= (p.Ala1747=)
c.5360C= (p.Ala1787=)
c.5288C= (p.Ala1763=)
c.2054C= (p.Ala685=)
c.1916C= (p.Ala639=)
c.4478C= (p.Ala1493=)
c.5243C= (p.Ala1748=)
c.5432C= (p.Ala1811=)
c.5225C= (p.Ala1742=)
c.1928C= (p.Ala643=)
n.1249C=
c.5429C= (p.Ala1810=)
c.1753C=
c.1940C= (p.Ala647=)
c.*5149C= (n.*5149C=)
c.2021-1458C= (n.2021-1458C=)
c.296C= (p.Ala99=)
c.839C= (p.Ala280=)
c.65C= (p.Ala22=)
n.5502C=
n.5543C=
17g.43049161G>TCA10590737BRCA1c.5363C>A (p.Ala1788Asp)
c.5366C>A (p.Ala1789Asp)
c.5240C>A (p.Ala1747Asp)
c.5360C>A (p.Ala1787Asp)
c.5288C>A (p.Ala1763Asp)
c.2054C>A (p.Ala685Asp)
c.1916C>A (p.Ala639Asp)
c.4478C>A (p.Ala1493Asp)
c.5243C>A (p.Ala1748Asp)
c.5432C>A (p.Ala1811Asp)
c.5225C>A (p.Ala1742Asp)
c.1928C>A (p.Ala643Asp)
n.1249C>A
c.5429C>A (p.Ala1810Asp)
c.1753C>A
c.1940C>A (p.Ala647Asp)
c.*5149C>A (n.*5149C>A)
c.2021-1458C>A (n.2021-1458C>A)
c.296C>A (p.Ala99Asp)
c.839C>A (p.Ala280Asp)
c.65C>A (p.Ala22Asp)
n.5502C>A
n.5543C>A
 ClinVar dbSNP
17g.43049161_43049162delinsTCA658656643BRCA1c.5362_5363delinsA (p.Ala1788IlefsTer4)
c.5365_5366delinsA (p.Ala1789IlefsTer4)
c.5239_5240delinsA (p.Ala1747IlefsTer4)
c.5359_5360delinsA (p.Ala1787IlefsTer4)
c.5287_5288delinsA (p.Ala1763IlefsTer4)
c.2053_2054delinsA (p.Ala685IlefsTer4)
c.1915_1916delinsA (p.Ala639IlefsTer4)
c.4477_4478delinsA (p.Ala1493IlefsTer4)
c.5242_5243delinsA (p.Ala1748IlefsTer4)
c.5431_5432delinsA (p.Ala1811IlefsTer4)
c.5224_5225delinsA (p.Ala1742IlefsTer4)
c.1927_1928delinsA (p.Ala643IlefsTer4)
n.1248_1249delinsA
c.5428_5429delinsA (p.Ala1810IlefsTer4)
c.1752_1753delinsA
c.1939_1940delinsA (p.Ala647IlefsTer4)
c.*5148_*5149delinsA (n.*5148_*5149delinsA)
c.2021-1459_2021-1458delinsA (n.2021-1459_2021-1458delinsA)
c.295_296delinsA (p.Ala99IlefsTer4)
c.838_839delinsA (p.Ala280IlefsTer4)
c.64_65delinsA (p.Ala22IlefsTer4)
n.5501_5502delinsA
n.5542_5543delinsA
 ClinVar dbSNP
17g.43049162C>ACA003533BRCA1c.5362G>T (p.Ala1788Ser)
c.5365G>T (p.Ala1789Ser)
c.5239G>T (p.Ala1747Ser)
c.5359G>T (p.Ala1787Ser)
c.5287G>T (p.Ala1763Ser)
c.2053G>T (p.Ala685Ser)
c.1915G>T (p.Ala639Ser)
c.4477G>T (p.Ala1493Ser)
c.5242G>T (p.Ala1748Ser)
c.5431G>T (p.Ala1811Ser)
c.5224G>T (p.Ala1742Ser)
c.1927G>T (p.Ala643Ser)
n.1248G>T
c.5428G>T (p.Ala1810Ser)
c.1752G>T
c.1939G>T (p.Ala647Ser)
c.*5148G>T (n.*5148G>T)
c.2021-1459G>T (n.2021-1459G>T)
c.295G>T (p.Ala99Ser)
c.838G>T (p.Ala280Ser)
c.64G>T (p.Ala22Ser)
n.5501G>T
n.5542G>T
 ClinVar dbSNP gnomAD v4
17g.43049162C=CA2260762758BRCA1c.5362G= (p.Ala1788=)
c.5365G= (p.Ala1789=)
c.5239G= (p.Ala1747=)
c.5359G= (p.Ala1787=)
c.5287G= (p.Ala1763=)
c.2053G= (p.Ala685=)
c.1915G= (p.Ala639=)
c.4477G= (p.Ala1493=)
c.5242G= (p.Ala1748=)
c.5431G= (p.Ala1811=)
c.5224G= (p.Ala1742=)
c.1927G= (p.Ala643=)
n.1248G=
c.5428G= (p.Ala1810=)
c.1752G=
c.1939G= (p.Ala647=)
c.*5148G= (n.*5148G=)
c.2021-1459G= (n.2021-1459G=)
c.295G= (p.Ala99=)
c.838G= (p.Ala280=)
c.64G= (p.Ala22=)
n.5501G=
n.5542G=
17g.43049162C>GCA10590738BRCA1c.5362G>C (p.Ala1788Pro)
c.5365G>C (p.Ala1789Pro)
c.5239G>C (p.Ala1747Pro)
c.5359G>C (p.Ala1787Pro)
c.5287G>C (p.Ala1763Pro)
c.2053G>C (p.Ala685Pro)
c.1915G>C (p.Ala639Pro)
c.4477G>C (p.Ala1493Pro)
c.5242G>C (p.Ala1748Pro)
c.5431G>C (p.Ala1811Pro)
c.5224G>C (p.Ala1742Pro)
c.1927G>C (p.Ala643Pro)
n.1248G>C
c.5428G>C (p.Ala1810Pro)
c.1752G>C
c.1939G>C (p.Ala647Pro)
c.*5148G>C (n.*5148G>C)
c.2021-1459G>C (n.2021-1459G>C)
c.295G>C (p.Ala99Pro)
c.838G>C (p.Ala280Pro)
c.64G>C (p.Ala22Pro)
n.5501G>C
n.5542G>C
 ClinVar dbSNP
17g.43049162C>TCA003531BRCA1c.5362G>A (p.Ala1788Thr)
c.5365G>A (p.Ala1789Thr)
c.5239G>A (p.Ala1747Thr)
c.5359G>A (p.Ala1787Thr)
c.5287G>A (p.Ala1763Thr)
c.2053G>A (p.Ala685Thr)
c.1915G>A (p.Ala639Thr)
c.4477G>A (p.Ala1493Thr)
c.5242G>A (p.Ala1748Thr)
c.5431G>A (p.Ala1811Thr)
c.5224G>A (p.Ala1742Thr)
c.1927G>A (p.Ala643Thr)
n.1248G>A
c.5428G>A (p.Ala1810Thr)
c.1752G>A
c.1939G>A (p.Ala647Thr)
c.*5148G>A (n.*5148G>A)
c.2021-1459G>A (n.2021-1459G>A)
c.295G>A (p.Ala99Thr)
c.838G>A (p.Ala280Thr)
c.64G>A (p.Ala22Thr)
n.5501G>A
n.5542G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049163A=CA2260762759BRCA1c.5361T= (p.Gly1787=)
c.5364T= (p.Gly1788=)
c.5238T= (p.Gly1746=)
c.5358T= (p.Gly1786=)
c.5286T= (p.Gly1762=)
c.2052T= (p.Gly684=)
c.1914T= (p.Gly638=)
c.4476T= (p.Gly1492=)
c.5241T= (p.Gly1747=)
c.5430T= (p.Gly1810=)
c.5223T= (p.Gly1741=)
c.1926T= (p.Gly642=)
n.1247T=
c.5427T= (p.Gly1809=)
c.1751T=
c.1938T= (p.Gly646=)
c.*5147T= (n.*5147T=)
c.2021-1460T= (n.2021-1460T=)
c.294T= (p.Gly98=)
c.837T= (p.Gly279=)
c.63T= (p.Gly21=)
n.5500T=
n.5541T=
17g.43049163A>CCA500143305BRCA1c.5361T>G (p.Gly1787=)
c.5364T>G (p.Gly1788=)
c.5238T>G (p.Gly1746=)
c.5358T>G (p.Gly1786=)
c.5286T>G (p.Gly1762=)
c.2052T>G (p.Gly684=)
c.1914T>G (p.Gly638=)
c.4476T>G (p.Gly1492=)
c.5241T>G (p.Gly1747=)
c.5430T>G (p.Gly1810=)
c.5223T>G (p.Gly1741=)
c.1926T>G (p.Gly642=)
n.1247T>G
c.5427T>G (p.Gly1809=)
c.1751T>G
c.1938T>G (p.Gly646=)
c.*5147T>G (n.*5147T>G)
c.2021-1460T>G (n.2021-1460T>G)
c.294T>G (p.Gly98=)
c.837T>G (p.Gly279=)
c.63T>G (p.Gly21=)
n.5500T>G
n.5541T>G
 ClinVar dbSNP
17g.43049163A>GCA500143306BRCA1c.5361T>C (p.Gly1787=)
c.5364T>C (p.Gly1788=)
c.5238T>C (p.Gly1746=)
c.5358T>C (p.Gly1786=)
c.5286T>C (p.Gly1762=)
c.2052T>C (p.Gly684=)
c.1914T>C (p.Gly638=)
c.4476T>C (p.Gly1492=)
c.5241T>C (p.Gly1747=)
c.5430T>C (p.Gly1810=)
c.5223T>C (p.Gly1741=)
c.1926T>C (p.Gly642=)
n.1247T>C
c.5427T>C (p.Gly1809=)
c.1751T>C
c.1938T>C (p.Gly646=)
c.*5147T>C (n.*5147T>C)
c.2021-1460T>C (n.2021-1460T>C)
c.294T>C (p.Gly98=)
c.837T>C (p.Gly279=)
c.63T>C (p.Gly21=)
n.5500T>C
n.5541T>C
 ClinVar dbSNP gnomAD v4
17g.43049163A>TCA500143307BRCA1c.5361T>A (p.Gly1787=)
c.5364T>A (p.Gly1788=)
c.5238T>A (p.Gly1746=)
c.5358T>A (p.Gly1786=)
c.5286T>A (p.Gly1762=)
c.2052T>A (p.Gly684=)
c.1914T>A (p.Gly638=)
c.4476T>A (p.Gly1492=)
c.5241T>A (p.Gly1747=)
c.5430T>A (p.Gly1810=)
c.5223T>A (p.Gly1741=)
c.1926T>A (p.Gly642=)
n.1247T>A
c.5427T>A (p.Gly1809=)
c.1751T>A
c.1938T>A (p.Gly646=)
c.*5147T>A (n.*5147T>A)
c.2021-1460T>A (n.2021-1460T>A)
c.294T>A (p.Gly98=)
c.837T>A (p.Gly279=)
c.63T>A (p.Gly21=)
n.5500T>A
n.5541T>A
 ClinVar dbSNP
17g.43049164C>ACA003530BRCA1c.5360G>T (p.Gly1787Val)
c.5363G>T (p.Gly1788Val)
c.5237G>T (p.Gly1746Val)
c.5357G>T (p.Gly1786Val)
c.5285G>T (p.Gly1762Val)
c.2051G>T (p.Gly684Val)
c.1913G>T (p.Gly638Val)
c.4475G>T (p.Gly1492Val)
c.5240G>T (p.Gly1747Val)
c.5429G>T (p.Gly1810Val)
c.5222G>T (p.Gly1741Val)
c.1925G>T (p.Gly642Val)
n.1246G>T
c.5426G>T (p.Gly1809Val)
c.1750G>T
c.1937G>T (p.Gly646Val)
c.*5146G>T (n.*5146G>T)
c.2021-1461G>T (n.2021-1461G>T)
c.293G>T (p.Gly98Val)
c.836G>T (p.Gly279Val)
c.62G>T (p.Gly21Val)
n.5499G>T
n.5540G>T
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43049164C=CA2260762760BRCA1c.5360G= (p.Gly1787=)
c.5363G= (p.Gly1788=)
c.5237G= (p.Gly1746=)
c.5357G= (p.Gly1786=)
c.5285G= (p.Gly1762=)
c.2051G= (p.Gly684=)
c.1913G= (p.Gly638=)
c.4475G= (p.Gly1492=)
c.5240G= (p.Gly1747=)
c.5429G= (p.Gly1810=)
c.5222G= (p.Gly1741=)
c.1925G= (p.Gly642=)
n.1246G=
c.5426G= (p.Gly1809=)
c.1750G=
c.1937G= (p.Gly646=)
c.*5146G= (n.*5146G=)
c.2021-1461G= (n.2021-1461G=)
c.293G= (p.Gly98=)
c.836G= (p.Gly279=)
c.62G= (p.Gly21=)
n.5499G=
n.5540G=
17g.43049164C>GCA10590739BRCA1c.5360G>C (p.Gly1787Ala)
c.5363G>C (p.Gly1788Ala)
c.5237G>C (p.Gly1746Ala)
c.5357G>C (p.Gly1786Ala)
c.5285G>C (p.Gly1762Ala)
c.2051G>C (p.Gly684Ala)
c.1913G>C (p.Gly638Ala)
c.4475G>C (p.Gly1492Ala)
c.5240G>C (p.Gly1747Ala)
c.5429G>C (p.Gly1810Ala)
c.5222G>C (p.Gly1741Ala)
c.1925G>C (p.Gly642Ala)
n.1246G>C
c.5426G>C (p.Gly1809Ala)
c.1750G>C
c.1937G>C (p.Gly646Ala)
c.*5146G>C (n.*5146G>C)
c.2021-1461G>C (n.2021-1461G>C)
c.293G>C (p.Gly98Ala)
c.836G>C (p.Gly279Ala)
c.62G>C (p.Gly21Ala)
n.5499G>C
n.5540G>C
 ClinVar dbSNP
17g.43049164C>TCA003529BRCA1c.5360G>A (p.Gly1787Asp)
c.5363G>A (p.Gly1788Asp)
c.5237G>A (p.Gly1746Asp)
c.5357G>A (p.Gly1786Asp)
c.5285G>A (p.Gly1762Asp)
c.2051G>A (p.Gly684Asp)
c.1913G>A (p.Gly638Asp)
c.4475G>A (p.Gly1492Asp)
c.5240G>A (p.Gly1747Asp)
c.5429G>A (p.Gly1810Asp)
c.5222G>A (p.Gly1741Asp)
c.1925G>A (p.Gly642Asp)
n.1246G>A
c.5426G>A (p.Gly1809Asp)
c.1750G>A
c.1937G>A (p.Gly646Asp)
c.*5146G>A (n.*5146G>A)
c.2021-1461G>A (n.2021-1461G>A)
c.293G>A (p.Gly98Asp)
c.836G>A (p.Gly279Asp)
c.62G>A (p.Gly21Asp)
n.5499G>A
n.5540G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.[43049164C>T;43049168A>T]CA916079409BRCA1c.[5356T>A;5360G>A] (p.[Cys1786Ser;Gly1787Asp])
c.[5359T>A;5363G>A] (p.[Cys1787Ser;Gly1788Asp])
c.[5233T>A;5237G>A] (p.[Cys1745Ser;Gly1746Asp])
c.[5353T>A;5357G>A] (p.[Cys1785Ser;Gly1786Asp])
c.[5281T>A;5285G>A] (p.[Cys1761Ser;Gly1762Asp])
c.[2047T>A;2051G>A] (p.[Cys683Ser;Gly684Asp])
c.[1909T>A;1913G>A] (p.[Cys637Ser;Gly638Asp])
c.[4471T>A;4475G>A] (p.[Cys1491Ser;Gly1492Asp])
c.[5236T>A;5240G>A] (p.[Cys1746Ser;Gly1747Asp])
c.[5425T>A;5429G>A] (p.[Cys1809Ser;Gly1810Asp])
c.[5218T>A;5222G>A] (p.[Cys1740Ser;Gly1741Asp])
c.[1921T>A;1925G>A] (p.[Cys641Ser;Gly642Asp])
n.[1242T>A;1246G>A]
c.[5422T>A;5426G>A] (p.[Cys1808Ser;Gly1809Asp])
c.[1746T>A;1750G>A]
c.[1933T>A;1937G>A] (p.[Cys645Ser;Gly646Asp])
c.[*5142T>A;*5146G>A] (n.[*5142T>A;*5146G>A])
c.[2021-1465T>A;2021-1461G>A] (n.[2021-1465T>A;2021-1461G>A])
c.[289T>A;293G>A] (p.[Cys97Ser;Gly98Asp])
c.[832T>A;836G>A] (p.[Cys278Ser;Gly279Asp])
c.[58T>A;62G>A] (p.[Cys20Ser;Gly21Asp])
n.[5495T>A;5499G>A]
n.[5536T>A;5540G>A]
 ClinVar
17g.43049164_43049166delinsCCACA2260762762BRCA1c.5358_5360delinsTGG (p.Cys1786=)
c.5361_5363delinsTGG (p.Cys1787=)
c.5235_5237delinsTGG (p.Cys1745=)
c.5355_5357delinsTGG (p.Cys1785=)
c.5283_5285delinsTGG (p.Cys1761=)
c.2049_2051delinsTGG (p.Cys683=)
c.1911_1913delinsTGG (p.Cys637=)
c.4473_4475delinsTGG (p.Cys1491=)
c.5238_5240delinsTGG (p.Cys1746=)
c.5427_5429delinsTGG (p.Cys1809=)
c.5220_5222delinsTGG (p.Cys1740=)
c.1923_1925delinsTGG (p.Cys641=)
n.1244_1246delinsTGG
c.5424_5426delinsTGG (p.Cys1808=)
c.1748_1750delinsTGG
c.1935_1937delinsTGG (p.Cys645=)
c.*5144_*5146delinsTGG (n.*5144_*5146delinsTGG)
c.2021-1463_2021-1461delinsTGG (n.2021-1463_2021-1461delinsTGG)
c.291_293delinsTGG (p.Cys97=)
c.834_836delinsTGG (p.Cys278=)
c.60_62delinsTGG (p.Cys20=)
n.5497_5499delinsTGG
n.5538_5540delinsTGG
17g.43049164_43049168delinsCCACACA2260762761BRCA1c.5356_5360delinsTGTGG (p.Cys1786=)
c.5359_5363delinsTGTGG (p.Cys1787=)
c.5233_5237delinsTGTGG (p.Cys1745=)
c.5353_5357delinsTGTGG (p.Cys1785=)
c.5281_5285delinsTGTGG (p.Cys1761=)
c.2047_2051delinsTGTGG (p.Cys683=)
c.1909_1913delinsTGTGG (p.Cys637=)
c.4471_4475delinsTGTGG (p.Cys1491=)
c.5236_5240delinsTGTGG (p.Cys1746=)
c.5425_5429delinsTGTGG (p.Cys1809=)
c.5218_5222delinsTGTGG (p.Cys1740=)
c.1921_1925delinsTGTGG (p.Cys641=)
n.1242_1246delinsTGTGG
c.5422_5426delinsTGTGG (p.Cys1808=)
c.1746_1750delinsTGTGG
c.1933_1937delinsTGTGG (p.Cys645=)
c.*5142_*5146delinsTGTGG (n.*5142_*5146delinsTGTGG)
c.2021-1465_2021-1461delinsTGTGG (n.2021-1465_2021-1461delinsTGTGG)
c.289_293delinsTGTGG (p.Cys97=)
c.832_836delinsTGTGG (p.Cys278=)
c.58_62delinsTGTGG (p.Cys20=)
n.5495_5499delinsTGTGG
n.5536_5540delinsTGTGG
17g.43049164_43049168delinsTCACTCA003524BRCA1c.5356_5360delinsAGTGA (p.Cys1786_Gly1787delinsSerAsp)
c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)
c.5233_5237delinsAGTGA (p.Cys1745_Gly1746delinsSerAsp)
c.5353_5357delinsAGTGA (p.Cys1785_Gly1786delinsSerAsp)
c.5281_5285delinsAGTGA (p.Cys1761_Gly1762delinsSerAsp)
c.2047_2051delinsAGTGA (p.Cys683_Gly684delinsSerAsp)
c.1909_1913delinsAGTGA (p.Cys637_Gly638delinsSerAsp)
c.4471_4475delinsAGTGA (p.Cys1491_Gly1492delinsSerAsp)
c.5236_5240delinsAGTGA (p.Cys1746_Gly1747delinsSerAsp)
c.5425_5429delinsAGTGA (p.Cys1809_Gly1810delinsSerAsp)
c.5218_5222delinsAGTGA (p.Cys1740_Gly1741delinsSerAsp)
c.1921_1925delinsAGTGA (p.Cys641_Gly642delinsSerAsp)
n.1242_1246delinsAGTGA
c.5422_5426delinsAGTGA (p.Cys1808_Gly1809delinsSerAsp)
c.1746_1750delinsAGTGA
c.1933_1937delinsAGTGA (p.Cys645_Gly646delinsSerAsp)
c.*5142_*5146delinsAGTGA (n.*5142_*5146delinsAGTGA)
c.2021-1465_2021-1461delinsAGTGA (n.2021-1465_2021-1461delinsAGTGA)
c.289_293delinsAGTGA (p.Cys97_Gly98delinsSerAsp)
c.832_836delinsAGTGA (p.Cys278_Gly279delinsSerAsp)
c.58_62delinsAGTGA (p.Cys20_Gly21delinsSerAsp)
n.5495_5499delinsAGTGA
n.5536_5540delinsAGTGA
 ClinVar dbSNP
17g.43049165C>ACA003528BRCA1c.5359G>T (p.Gly1787Cys)
c.5362G>T (p.Gly1788Cys)
c.5236G>T (p.Gly1746Cys)
c.5356G>T (p.Gly1786Cys)
c.5284G>T (p.Gly1762Cys)
c.2050G>T (p.Gly684Cys)
c.1912G>T (p.Gly638Cys)
c.4474G>T (p.Gly1492Cys)
c.5239G>T (p.Gly1747Cys)
c.5428G>T (p.Gly1810Cys)
c.5221G>T (p.Gly1741Cys)
c.1924G>T (p.Gly642Cys)
n.1245G>T
c.5425G>T (p.Gly1809Cys)
c.1749G>T
c.1936G>T (p.Gly646Cys)
c.*5145G>T (n.*5145G>T)
c.2021-1462G>T (n.2021-1462G>T)
c.292G>T (p.Gly98Cys)
c.835G>T (p.Gly279Cys)
c.61G>T (p.Gly21Cys)
n.5498G>T
n.5539G>T
 ClinVar dbSNP
17g.43049165C=CA2260762763BRCA1c.5359G= (p.Gly1787=)
c.5362G= (p.Gly1788=)
c.5236G= (p.Gly1746=)
c.5356G= (p.Gly1786=)
c.5284G= (p.Gly1762=)
c.2050G= (p.Gly684=)
c.1912G= (p.Gly638=)
c.4474G= (p.Gly1492=)
c.5239G= (p.Gly1747=)
c.5428G= (p.Gly1810=)
c.5221G= (p.Gly1741=)
c.1924G= (p.Gly642=)
n.1245G=
c.5425G= (p.Gly1809=)
c.1749G=
c.1936G= (p.Gly646=)
c.*5145G= (n.*5145G=)
c.2021-1462G= (n.2021-1462G=)
c.292G= (p.Gly98=)
c.835G= (p.Gly279=)
c.61G= (p.Gly21=)
n.5498G=
n.5539G=
17g.43049165C>GCA10590740BRCA1c.5359G>C (p.Gly1787Arg)
c.5362G>C (p.Gly1788Arg)
c.5236G>C (p.Gly1746Arg)
c.5356G>C (p.Gly1786Arg)
c.5284G>C (p.Gly1762Arg)
c.2050G>C (p.Gly684Arg)
c.1912G>C (p.Gly638Arg)
c.4474G>C (p.Gly1492Arg)
c.5239G>C (p.Gly1747Arg)
c.5428G>C (p.Gly1810Arg)
c.5221G>C (p.Gly1741Arg)
c.1924G>C (p.Gly642Arg)
n.1245G>C
c.5425G>C (p.Gly1809Arg)
c.1749G>C
c.1936G>C (p.Gly646Arg)
c.*5145G>C (n.*5145G>C)
c.2021-1462G>C (n.2021-1462G>C)
c.292G>C (p.Gly98Arg)
c.835G>C (p.Gly279Arg)
c.61G>C (p.Gly21Arg)
n.5498G>C
n.5539G>C
 ClinVar dbSNP
17g.43049165C>TCA10590741BRCA1c.5359G>A (p.Gly1787Ser)
c.5362G>A (p.Gly1788Ser)
c.5236G>A (p.Gly1746Ser)
c.5356G>A (p.Gly1786Ser)
c.5284G>A (p.Gly1762Ser)
c.2050G>A (p.Gly684Ser)
c.1912G>A (p.Gly638Ser)
c.4474G>A (p.Gly1492Ser)
c.5239G>A (p.Gly1747Ser)
c.5428G>A (p.Gly1810Ser)
c.5221G>A (p.Gly1741Ser)
c.1924G>A (p.Gly642Ser)
n.1245G>A
c.5425G>A (p.Gly1809Ser)
c.1749G>A
c.1936G>A (p.Gly646Ser)
c.*5145G>A (n.*5145G>A)
c.2021-1462G>A (n.2021-1462G>A)
c.292G>A (p.Gly98Ser)
c.835G>A (p.Gly279Ser)
c.61G>A (p.Gly21Ser)
n.5498G>A
n.5539G>A
 ClinVar dbSNP
17g.43049169_43049170delCA10589594BRCA1c.5358_5359del (p.Cys1786TrpfsTer?)
c.5361_5362del (p.Cys1787TrpfsTer?)
c.5235_5236del (p.Cys1745TrpfsTer?)
c.5355_5356del (p.Cys1785TrpfsTer?)
c.5283_5284del (p.Cys1761TrpfsTer?)
c.2049_2050del (p.Cys683TrpfsTer?)
c.1911_1912del (p.Cys637TrpfsTer?)
c.4473_4474del (p.Cys1491TrpfsTer?)
c.5238_5239del (p.Cys1746TrpfsTer?)
c.5427_5428del (p.Cys1809TrpfsTer?)
c.5220_5221del (p.Cys1740TrpfsTer?)
c.1923_1924del (p.Cys641TrpfsTer?)
n.1244_1245del
c.5424_5425del (p.Cys1808TrpfsTer?)
c.1748_1749del
c.1935_1936del (p.Cys645TrpfsTer?)
c.*5144_*5145del (n.*5144_*5145del)
c.2021-1463_2021-1462del (n.2021-1463_2021-1462del)
c.291_292del (p.Cys97TrpfsTer?)
c.834_835del (p.Cys278TrpfsTer?)
c.60_61del (p.Cys20TrpfsTer?)
n.5497_5498del
n.5538_5539del
 ClinVar dbSNP
17g.43049166A=CA2260762764BRCA1c.5358T= (p.Cys1786=)
c.5361T= (p.Cys1787=)
c.5235T= (p.Cys1745=)
c.5355T= (p.Cys1785=)
c.5283T= (p.Cys1761=)
c.2049T= (p.Cys683=)
c.1911T= (p.Cys637=)
c.4473T= (p.Cys1491=)
c.5238T= (p.Cys1746=)
c.5427T= (p.Cys1809=)
c.5220T= (p.Cys1740=)
c.1923T= (p.Cys641=)
n.1244T=
c.5424T= (p.Cys1808=)
c.1748T=
c.1935T= (p.Cys645=)
c.*5144T= (n.*5144T=)
c.2021-1463T= (n.2021-1463T=)
c.291T= (p.Cys97=)
c.834T= (p.Cys278=)
c.60T= (p.Cys20=)
n.5497T=
n.5538T=
17g.43049166A>CCA10590742BRCA1c.5358T>G (p.Cys1786Trp)
c.5361T>G (p.Cys1787Trp)
c.5235T>G (p.Cys1745Trp)
c.5355T>G (p.Cys1785Trp)
c.5283T>G (p.Cys1761Trp)
c.2049T>G (p.Cys683Trp)
c.1911T>G (p.Cys637Trp)
c.4473T>G (p.Cys1491Trp)
c.5238T>G (p.Cys1746Trp)
c.5427T>G (p.Cys1809Trp)
c.5220T>G (p.Cys1740Trp)
c.1923T>G (p.Cys641Trp)
n.1244T>G
c.5424T>G (p.Cys1808Trp)
c.1748T>G
c.1935T>G (p.Cys645Trp)
c.*5144T>G (n.*5144T>G)
c.2021-1463T>G (n.2021-1463T>G)
c.291T>G (p.Cys97Trp)
c.834T>G (p.Cys278Trp)
c.60T>G (p.Cys20Trp)
n.5497T>G
n.5538T>G
 ClinVar dbSNP
17g.43049166A>GCA500143308BRCA1c.5358T>C (p.Cys1786=)
c.5361T>C (p.Cys1787=)
c.5235T>C (p.Cys1745=)
c.5355T>C (p.Cys1785=)
c.5283T>C (p.Cys1761=)
c.2049T>C (p.Cys683=)
c.1911T>C (p.Cys637=)
c.4473T>C (p.Cys1491=)
c.5238T>C (p.Cys1746=)
c.5427T>C (p.Cys1809=)
c.5220T>C (p.Cys1740=)
c.1923T>C (p.Cys641=)
n.1244T>C
c.5424T>C (p.Cys1808=)
c.1748T>C
c.1935T>C (p.Cys645=)
c.*5144T>C (n.*5144T>C)
c.2021-1463T>C (n.2021-1463T>C)
c.291T>C (p.Cys97=)
c.834T>C (p.Cys278=)
c.60T>C (p.Cys20=)
n.5497T>C
n.5538T>C
 ClinVar dbSNP
17g.43049166A>TCA10590743BRCA1c.5358T>A (p.Cys1786Ter)
c.5361T>A (p.Cys1787Ter)
c.5235T>A (p.Cys1745Ter)
c.5355T>A (p.Cys1785Ter)
c.5283T>A (p.Cys1761Ter)
c.2049T>A (p.Cys683Ter)
c.1911T>A (p.Cys637Ter)
c.4473T>A (p.Cys1491Ter)
c.5238T>A (p.Cys1746Ter)
c.5427T>A (p.Cys1809Ter)
c.5220T>A (p.Cys1740Ter)
c.1923T>A (p.Cys641Ter)
n.1244T>A
c.5424T>A (p.Cys1808Ter)
c.1748T>A
c.1935T>A (p.Cys645Ter)
c.*5144T>A (n.*5144T>A)
c.2021-1463T>A (n.2021-1463T>A)
c.291T>A (p.Cys97Ter)
c.834T>A (p.Cys278Ter)
c.60T>A (p.Cys20Ter)
n.5497T>A
n.5538T>A
 ClinVar dbSNP
17g.43049166_43049167delinsACCA2260762765BRCA1c.5357_5358delinsGT (p.Cys1786=)
c.5360_5361delinsGT (p.Cys1787=)
c.5234_5235delinsGT (p.Cys1745=)
c.5354_5355delinsGT (p.Cys1785=)
c.5282_5283delinsGT (p.Cys1761=)
c.2048_2049delinsGT (p.Cys683=)
c.1910_1911delinsGT (p.Cys637=)
c.4472_4473delinsGT (p.Cys1491=)
c.5237_5238delinsGT (p.Cys1746=)
c.5426_5427delinsGT (p.Cys1809=)
c.5219_5220delinsGT (p.Cys1740=)
c.1922_1923delinsGT (p.Cys641=)
n.1243_1244delinsGT
c.5423_5424delinsGT (p.Cys1808=)
c.1747_1748delinsGT
c.1934_1935delinsGT (p.Cys645=)
c.*5143_*5144delinsGT (n.*5143_*5144delinsGT)
c.2021-1464_2021-1463delinsGT (n.2021-1464_2021-1463delinsGT)
c.290_291delinsGT (p.Cys97=)
c.833_834delinsGT (p.Cys278=)
c.59_60delinsGT (p.Cys20=)
n.5496_5497delinsGT
n.5537_5538delinsGT
17g.43049166_43049167delinsCTCA003527BRCA1c.5357_5358delinsAG (p.Cys1786Ter)
c.5360_5361delinsAG (p.Cys1787Ter)
c.5234_5235delinsAG (p.Cys1745Ter)
c.5354_5355delinsAG (p.Cys1785Ter)
c.5282_5283delinsAG (p.Cys1761Ter)
c.2048_2049delinsAG (p.Cys683Ter)
c.1910_1911delinsAG (p.Cys637Ter)
c.4472_4473delinsAG (p.Cys1491Ter)
c.5237_5238delinsAG (p.Cys1746Ter)
c.5426_5427delinsAG (p.Cys1809Ter)
c.5219_5220delinsAG (p.Cys1740Ter)
c.1922_1923delinsAG (p.Cys641Ter)
n.1243_1244delinsAG
c.5423_5424delinsAG (p.Cys1808Ter)
c.1747_1748delinsAG
c.1934_1935delinsAG (p.Cys645Ter)
c.*5143_*5144delinsAG (n.*5143_*5144delinsAG)
c.2021-1464_2021-1463delinsAG (n.2021-1464_2021-1463delinsAG)
c.290_291delinsAG (p.Cys97Ter)
c.833_834delinsAG (p.Cys278Ter)
c.59_60delinsAG (p.Cys20Ter)
n.5496_5497delinsAG
n.5537_5538delinsAG
 ClinVar dbSNP
17g.43049167delCA2695226111BRCA1c.5357del (p.Cys1786LeufsTer6)
c.5360del (p.Cys1787LeufsTer6)
c.5234del (p.Cys1745LeufsTer6)
c.5354del (p.Cys1785LeufsTer6)
c.5282del (p.Cys1761LeufsTer6)
c.2048del (p.Cys683LeufsTer6)
c.1910del (p.Cys637LeufsTer6)
c.4472del (p.Cys1491LeufsTer6)
c.5237del (p.Cys1746LeufsTer6)
c.5426del (p.Cys1809LeufsTer6)
c.5219del (p.Cys1740LeufsTer6)
c.1922del (p.Cys641LeufsTer6)
n.1243del
c.5423del (p.Cys1808LeufsTer6)
c.1747del
c.1934del (p.Cys645LeufsTer6)
c.*5143del (n.*5143del)
c.2021-1464del (n.2021-1464del)
c.290del (p.Cys97LeufsTer6)
c.833del (p.Cys278LeufsTer6)
c.59del (p.Cys20LeufsTer6)
n.5496del
n.5537del
17g.43049167C>ACA10590744BRCA1c.5357G>T (p.Cys1786Phe)
c.5360G>T (p.Cys1787Phe)
c.5234G>T (p.Cys1745Phe)
c.5354G>T (p.Cys1785Phe)
c.5282G>T (p.Cys1761Phe)
c.2048G>T (p.Cys683Phe)
c.1910G>T (p.Cys637Phe)
c.4472G>T (p.Cys1491Phe)
c.5237G>T (p.Cys1746Phe)
c.5426G>T (p.Cys1809Phe)
c.5219G>T (p.Cys1740Phe)
c.1922G>T (p.Cys641Phe)
n.1243G>T
c.5423G>T (p.Cys1808Phe)
c.1747G>T
c.1934G>T (p.Cys645Phe)
c.*5143G>T (n.*5143G>T)
c.2021-1464G>T (n.2021-1464G>T)
c.290G>T (p.Cys97Phe)
c.833G>T (p.Cys278Phe)
c.59G>T (p.Cys20Phe)
n.5496G>T
n.5537G>T
 ClinVar dbSNP
17g.43049167C=CA2260762766BRCA1c.5357G= (p.Cys1786=)
c.5360G= (p.Cys1787=)
c.5234G= (p.Cys1745=)
c.5354G= (p.Cys1785=)
c.5282G= (p.Cys1761=)
c.2048G= (p.Cys683=)
c.1910G= (p.Cys637=)
c.4472G= (p.Cys1491=)
c.5237G= (p.Cys1746=)
c.5426G= (p.Cys1809=)
c.5219G= (p.Cys1740=)
c.1922G= (p.Cys641=)
n.1243G=
c.5423G= (p.Cys1808=)
c.1747G=
c.1934G= (p.Cys645=)
c.*5143G= (n.*5143G=)
c.2021-1464G= (n.2021-1464G=)
c.290G= (p.Cys97=)
c.833G= (p.Cys278=)
c.59G= (p.Cys20=)
n.5496G=
n.5537G=
17g.43049167C>GCA10590745BRCA1c.5357G>C (p.Cys1786Ser)
c.5360G>C (p.Cys1787Ser)
c.5234G>C (p.Cys1745Ser)
c.5354G>C (p.Cys1785Ser)
c.5282G>C (p.Cys1761Ser)
c.2048G>C (p.Cys683Ser)
c.1910G>C (p.Cys637Ser)
c.4472G>C (p.Cys1491Ser)
c.5237G>C (p.Cys1746Ser)
c.5426G>C (p.Cys1809Ser)
c.5219G>C (p.Cys1740Ser)
c.1922G>C (p.Cys641Ser)
n.1243G>C
c.5423G>C (p.Cys1808Ser)
c.1747G>C
c.1934G>C (p.Cys645Ser)
c.*5143G>C (n.*5143G>C)
c.2021-1464G>C (n.2021-1464G>C)
c.290G>C (p.Cys97Ser)
c.833G>C (p.Cys278Ser)
c.59G>C (p.Cys20Ser)
n.5496G>C
n.5537G>C
 ClinVar dbSNP
17g.43049167C>TCA10590746BRCA1c.5357G>A (p.Cys1786Tyr)
c.5360G>A (p.Cys1787Tyr)
c.5234G>A (p.Cys1745Tyr)
c.5354G>A (p.Cys1785Tyr)
c.5282G>A (p.Cys1761Tyr)
c.2048G>A (p.Cys683Tyr)
c.1910G>A (p.Cys637Tyr)
c.4472G>A (p.Cys1491Tyr)
c.5237G>A (p.Cys1746Tyr)
c.5426G>A (p.Cys1809Tyr)
c.5219G>A (p.Cys1740Tyr)
c.1922G>A (p.Cys641Tyr)
n.1243G>A
c.5423G>A (p.Cys1808Tyr)
c.1747G>A
c.1934G>A (p.Cys645Tyr)
c.*5143G>A (n.*5143G>A)
c.2021-1464G>A (n.2021-1464G>A)
c.290G>A (p.Cys97Tyr)
c.833G>A (p.Cys278Tyr)
c.59G>A (p.Cys20Tyr)
n.5496G>A
n.5537G>A
 ClinVar dbSNP
17g.43049167_43049168delinsTCACTCA003523BRCA1c.5356_5357delinsAGTGA (p.Cys1786delinsSerAsp)
c.5359_5360delinsAGTGA (p.Cys1787delinsSerAsp)
c.5233_5234delinsAGTGA (p.Cys1745delinsSerAsp)
c.5353_5354delinsAGTGA (p.Cys1785delinsSerAsp)
c.5281_5282delinsAGTGA (p.Cys1761delinsSerAsp)
c.2047_2048delinsAGTGA (p.Cys683delinsSerAsp)
c.1909_1910delinsAGTGA (p.Cys637delinsSerAsp)
c.4471_4472delinsAGTGA (p.Cys1491delinsSerAsp)
c.5236_5237delinsAGTGA (p.Cys1746delinsSerAsp)
c.5425_5426delinsAGTGA (p.Cys1809delinsSerAsp)
c.5218_5219delinsAGTGA (p.Cys1740delinsSerAsp)
c.1921_1922delinsAGTGA (p.Cys641delinsSerAsp)
n.1242_1243delinsAGTGA
c.5422_5423delinsAGTGA (p.Cys1808delinsSerAsp)
c.1746_1747delinsAGTGA
c.1933_1934delinsAGTGA (p.Cys645delinsSerAsp)
c.*5142_*5143delinsAGTGA (n.*5142_*5143delinsAGTGA)
c.2021-1465_2021-1464delinsAGTGA (n.2021-1465_2021-1464delinsAGTGA)
c.289_290delinsAGTGA (p.Cys97delinsSerAsp)
c.832_833delinsAGTGA (p.Cys278delinsSerAsp)
c.58_59delinsAGTGA (p.Cys20delinsSerAsp)
n.5495_5496delinsAGTGA
n.5536_5537delinsAGTGA
17g.43049168A=CA2260762767BRCA1c.5356T= (p.Cys1786=)
c.5359T= (p.Cys1787=)
c.5233T= (p.Cys1745=)
c.5353T= (p.Cys1785=)
c.5281T= (p.Cys1761=)
c.2047T= (p.Cys683=)
c.1909T= (p.Cys637=)
c.4471T= (p.Cys1491=)
c.5236T= (p.Cys1746=)
c.5425T= (p.Cys1809=)
c.5218T= (p.Cys1740=)
c.1921T= (p.Cys641=)
n.1242T=
c.5422T= (p.Cys1808=)
c.1746T=
c.1933T= (p.Cys645=)
c.*5142T= (n.*5142T=)
c.2021-1465T= (n.2021-1465T=)
c.289T= (p.Cys97=)
c.832T= (p.Cys278=)
c.58T= (p.Cys20=)
n.5495T=
n.5536T=
17g.43049168A>CCA10590747BRCA1c.5356T>G (p.Cys1786Gly)
c.5359T>G (p.Cys1787Gly)
c.5233T>G (p.Cys1745Gly)
c.5353T>G (p.Cys1785Gly)
c.5281T>G (p.Cys1761Gly)
c.2047T>G (p.Cys683Gly)
c.1909T>G (p.Cys637Gly)
c.4471T>G (p.Cys1491Gly)
c.5236T>G (p.Cys1746Gly)
c.5425T>G (p.Cys1809Gly)
c.5218T>G (p.Cys1740Gly)
c.1921T>G (p.Cys641Gly)
n.1242T>G
c.5422T>G (p.Cys1808Gly)
c.1746T>G
c.1933T>G (p.Cys645Gly)
c.*5142T>G (n.*5142T>G)
c.2021-1465T>G (n.2021-1465T>G)
c.289T>G (p.Cys97Gly)
c.832T>G (p.Cys278Gly)
c.58T>G (p.Cys20Gly)
n.5495T>G
n.5536T>G
 ClinVar dbSNP
17g.43049168A>GCA10590748BRCA1c.5356T>C (p.Cys1786Arg)
c.5359T>C (p.Cys1787Arg)
c.5233T>C (p.Cys1745Arg)
c.5353T>C (p.Cys1785Arg)
c.5281T>C (p.Cys1761Arg)
c.2047T>C (p.Cys683Arg)
c.1909T>C (p.Cys637Arg)
c.4471T>C (p.Cys1491Arg)
c.5236T>C (p.Cys1746Arg)
c.5425T>C (p.Cys1809Arg)
c.5218T>C (p.Cys1740Arg)
c.1921T>C (p.Cys641Arg)
n.1242T>C
c.5422T>C (p.Cys1808Arg)
c.1746T>C
c.1933T>C (p.Cys645Arg)
c.*5142T>C (n.*5142T>C)
c.2021-1465T>C (n.2021-1465T>C)
c.289T>C (p.Cys97Arg)
c.832T>C (p.Cys278Arg)
c.58T>C (p.Cys20Arg)
n.5495T>C
n.5536T>C
 ClinVar dbSNP
17g.43049168A>TCA003525BRCA1c.5356T>A (p.Cys1786Ser)
c.5359T>A (p.Cys1787Ser)
c.5233T>A (p.Cys1745Ser)
c.5353T>A (p.Cys1785Ser)
c.5281T>A (p.Cys1761Ser)
c.2047T>A (p.Cys683Ser)
c.1909T>A (p.Cys637Ser)
c.4471T>A (p.Cys1491Ser)
c.5236T>A (p.Cys1746Ser)
c.5425T>A (p.Cys1809Ser)
c.5218T>A (p.Cys1740Ser)
c.1921T>A (p.Cys641Ser)
n.1242T>A
c.5422T>A (p.Cys1808Ser)
c.1746T>A
c.1933T>A (p.Cys645Ser)
c.*5142T>A (n.*5142T>A)
c.2021-1465T>A (n.2021-1465T>A)
c.289T>A (p.Cys97Ser)
c.832T>A (p.Cys278Ser)
c.58T>A (p.Cys20Ser)
n.5495T>A
n.5536T>A
 ClinVar dbSNP
17g.43049169C>ACA500143309BRCA1c.5355G>T (p.Leu1785=)
c.5358G>T (p.Leu1786=)
c.5232G>T (p.Leu1744=)
c.5352G>T (p.Leu1784=)
c.5280G>T (p.Leu1760=)
c.2046G>T (p.Leu682=)
c.1908G>T (p.Leu636=)
c.4470G>T (p.Leu1490=)
c.5235G>T (p.Leu1745=)
c.5424G>T (p.Leu1808=)
c.5217G>T (p.Leu1739=)
c.1920G>T (p.Leu640=)
n.1241G>T
c.5421G>T (p.Leu1807=)
c.1745G>T
c.1932G>T (p.Leu644=)
c.*5141G>T (n.*5141G>T)
c.2021-1466G>T (n.2021-1466G>T)
c.288G>T (p.Leu96=)
c.831G>T (p.Leu277=)
c.57G>T (p.Leu19=)
n.5494G>T
n.5535G>T
 ClinVar dbSNP
17g.43049169C=CA2260762768BRCA1c.5355G= (p.Leu1785=)
c.5358G= (p.Leu1786=)
c.5232G= (p.Leu1744=)
c.5352G= (p.Leu1784=)
c.5280G= (p.Leu1760=)
c.2046G= (p.Leu682=)
c.1908G= (p.Leu636=)
c.4470G= (p.Leu1490=)
c.5235G= (p.Leu1745=)
c.5424G= (p.Leu1808=)
c.5217G= (p.Leu1739=)
c.1920G= (p.Leu640=)
n.1241G=
c.5421G= (p.Leu1807=)
c.1745G=
c.1932G= (p.Leu644=)
c.*5141G= (n.*5141G=)
c.2021-1466G= (n.2021-1466G=)
c.288G= (p.Leu96=)
c.831G= (p.Leu277=)
c.57G= (p.Leu19=)
n.5494G=
n.5535G=
17g.43049169C>GCA16608432BRCA1c.5355G>C (p.Leu1785=)
c.5358G>C (p.Leu1786=)
c.5232G>C (p.Leu1744=)
c.5352G>C (p.Leu1784=)
c.5280G>C (p.Leu1760=)
c.2046G>C (p.Leu682=)
c.1908G>C (p.Leu636=)
c.4470G>C (p.Leu1490=)
c.5235G>C (p.Leu1745=)
c.5424G>C (p.Leu1808=)
c.5217G>C (p.Leu1739=)
c.1920G>C (p.Leu640=)
n.1241G>C
c.5421G>C (p.Leu1807=)
c.1745G>C
c.1932G>C (p.Leu644=)
c.*5141G>C (n.*5141G>C)
c.2021-1466G>C (n.2021-1466G>C)
c.288G>C (p.Leu96=)
c.831G>C (p.Leu277=)
c.57G>C (p.Leu19=)
n.5494G>C
n.5535G>C
 ClinVar dbSNP
17g.43049169C>TCA500143310BRCA1c.5355G>A (p.Leu1785=)
c.5358G>A (p.Leu1786=)
c.5232G>A (p.Leu1744=)
c.5352G>A (p.Leu1784=)
c.5280G>A (p.Leu1760=)
c.2046G>A (p.Leu682=)
c.1908G>A (p.Leu636=)
c.4470G>A (p.Leu1490=)
c.5235G>A (p.Leu1745=)
c.5424G>A (p.Leu1808=)
c.5217G>A (p.Leu1739=)
c.1920G>A (p.Leu640=)
n.1241G>A
c.5421G>A (p.Leu1807=)
c.1745G>A
c.1932G>A (p.Leu644=)
c.*5141G>A (n.*5141G>A)
c.2021-1466G>A (n.2021-1466G>A)
c.288G>A (p.Leu96=)
c.831G>A (p.Leu277=)
c.57G>A (p.Leu19=)
n.5494G>A
n.5535G>A
 ClinVar dbSNP
17g.43049170A=CA2260762769BRCA1c.5354T= (p.Leu1785=)
c.5357T= (p.Leu1786=)
c.5231T= (p.Leu1744=)
c.5351T= (p.Leu1784=)
c.5279T= (p.Leu1760=)
c.2045T= (p.Leu682=)
c.1907T= (p.Leu636=)
c.4469T= (p.Leu1490=)
c.5234T= (p.Leu1745=)
c.5423T= (p.Leu1808=)
c.5216T= (p.Leu1739=)
c.1919T= (p.Leu640=)
n.1240T=
c.5420T= (p.Leu1807=)
c.1744T=
c.1931T= (p.Leu644=)
c.*5140T= (n.*5140T=)
c.2021-1467T= (n.2021-1467T=)
c.287T= (p.Leu96=)
c.830T= (p.Leu277=)
c.56T= (p.Leu19=)
n.5493T=
n.5534T=
17g.43049170A>CCA10590749BRCA1c.5354T>G (p.Leu1785Arg)
c.5357T>G (p.Leu1786Arg)
c.5231T>G (p.Leu1744Arg)
c.5351T>G (p.Leu1784Arg)
c.5279T>G (p.Leu1760Arg)
c.2045T>G (p.Leu682Arg)
c.1907T>G (p.Leu636Arg)
c.4469T>G (p.Leu1490Arg)
c.5234T>G (p.Leu1745Arg)
c.5423T>G (p.Leu1808Arg)
c.5216T>G (p.Leu1739Arg)
c.1919T>G (p.Leu640Arg)
n.1240T>G
c.5420T>G (p.Leu1807Arg)
c.1744T>G
c.1931T>G (p.Leu644Arg)
c.*5140T>G (n.*5140T>G)
c.2021-1467T>G (n.2021-1467T>G)
c.287T>G (p.Leu96Arg)
c.830T>G (p.Leu277Arg)
c.56T>G (p.Leu19Arg)
n.5493T>G
n.5534T>G
 ClinVar dbSNP
17g.43049170A>GCA003521BRCA1c.5354T>C (p.Leu1785Pro)
c.5357T>C (p.Leu1786Pro)
c.5231T>C (p.Leu1744Pro)
c.5351T>C (p.Leu1784Pro)
c.5279T>C (p.Leu1760Pro)
c.2045T>C (p.Leu682Pro)
c.1907T>C (p.Leu636Pro)
c.4469T>C (p.Leu1490Pro)
c.5234T>C (p.Leu1745Pro)
c.5423T>C (p.Leu1808Pro)
c.5216T>C (p.Leu1739Pro)
c.1919T>C (p.Leu640Pro)
n.1240T>C
c.5420T>C (p.Leu1807Pro)
c.1744T>C
c.1931T>C (p.Leu644Pro)
c.*5140T>C (n.*5140T>C)
c.2021-1467T>C (n.2021-1467T>C)
c.287T>C (p.Leu96Pro)
c.830T>C (p.Leu277Pro)
c.56T>C (p.Leu19Pro)
n.5493T>C
n.5534T>C
 ClinVar dbSNP ExAC gnomAD v2
17g.43049170A>TCA10590750BRCA1c.5354T>A (p.Leu1785Gln)
c.5357T>A (p.Leu1786Gln)
c.5231T>A (p.Leu1744Gln)
c.5351T>A (p.Leu1784Gln)
c.5279T>A (p.Leu1760Gln)
c.2045T>A (p.Leu682Gln)
c.1907T>A (p.Leu636Gln)
c.4469T>A (p.Leu1490Gln)
c.5234T>A (p.Leu1745Gln)
c.5423T>A (p.Leu1808Gln)
c.5216T>A (p.Leu1739Gln)
c.1919T>A (p.Leu640Gln)
n.1240T>A
c.5420T>A (p.Leu1807Gln)
c.1744T>A
c.1931T>A (p.Leu644Gln)
c.*5140T>A (n.*5140T>A)
c.2021-1467T>A (n.2021-1467T>A)
c.287T>A (p.Leu96Gln)
c.830T>A (p.Leu277Gln)
c.56T>A (p.Leu19Gln)
n.5493T>A
n.5534T>A
 ClinVar dbSNP gnomAD v4
17g.43049171G>ACA500143311BRCA1c.5353C>T (p.Leu1785=)
c.5356C>T (p.Leu1786=)
c.5230C>T (p.Leu1744=)
c.5350C>T (p.Leu1784=)
c.5278C>T (p.Leu1760=)
c.2044C>T (p.Leu682=)
c.1906C>T (p.Leu636=)
c.4468C>T (p.Leu1490=)
c.5233C>T (p.Leu1745=)
c.5422C>T (p.Leu1808=)
c.5215C>T (p.Leu1739=)
c.1918C>T (p.Leu640=)
n.1239C>T
c.5419C>T (p.Leu1807=)
c.1743C>T
c.1930C>T (p.Leu644=)
c.*5139C>T (n.*5139C>T)
c.2021-1468C>T (n.2021-1468C>T)
c.286C>T (p.Leu96=)
c.829C>T (p.Leu277=)
c.55C>T (p.Leu19=)
n.5492C>T
n.5533C>T
 ClinVar dbSNP
17g.43049171G>CCA10590751BRCA1c.5353C>G (p.Leu1785Val)
c.5356C>G (p.Leu1786Val)
c.5230C>G (p.Leu1744Val)
c.5350C>G (p.Leu1784Val)
c.5278C>G (p.Leu1760Val)
c.2044C>G (p.Leu682Val)
c.1906C>G (p.Leu636Val)
c.4468C>G (p.Leu1490Val)
c.5233C>G (p.Leu1745Val)
c.5422C>G (p.Leu1808Val)
c.5215C>G (p.Leu1739Val)
c.1918C>G (p.Leu640Val)
n.1239C>G
c.5419C>G (p.Leu1807Val)
c.1743C>G
c.1930C>G (p.Leu644Val)
c.*5139C>G (n.*5139C>G)
c.2021-1468C>G (n.2021-1468C>G)
c.286C>G (p.Leu96Val)
c.829C>G (p.Leu277Val)
c.55C>G (p.Leu19Val)
n.5492C>G
n.5533C>G
 ClinVar dbSNP
17g.43049171G=CA2260762770BRCA1c.5353C= (p.Leu1785=)
c.5356C= (p.Leu1786=)
c.5230C= (p.Leu1744=)
c.5350C= (p.Leu1784=)
c.5278C= (p.Leu1760=)
c.2044C= (p.Leu682=)
c.1906C= (p.Leu636=)
c.4468C= (p.Leu1490=)
c.5233C= (p.Leu1745=)
c.5422C= (p.Leu1808=)
c.5215C= (p.Leu1739=)
c.1918C= (p.Leu640=)
n.1239C=
c.5419C= (p.Leu1807=)
c.1743C=
c.1930C= (p.Leu644=)
c.*5139C= (n.*5139C=)
c.2021-1468C= (n.2021-1468C=)
c.286C= (p.Leu96=)
c.829C= (p.Leu277=)
c.55C= (p.Leu19=)
n.5492C=
n.5533C=
17g.43049171G>TCA10590752BRCA1c.5353C>A (p.Leu1785Met)
c.5356C>A (p.Leu1786Met)
c.5230C>A (p.Leu1744Met)
c.5350C>A (p.Leu1784Met)
c.5278C>A (p.Leu1760Met)
c.2044C>A (p.Leu682Met)
c.1906C>A (p.Leu636Met)
c.4468C>A (p.Leu1490Met)
c.5233C>A (p.Leu1745Met)
c.5422C>A (p.Leu1808Met)
c.5215C>A (p.Leu1739Met)
c.1918C>A (p.Leu640Met)
n.1239C>A
c.5419C>A (p.Leu1807Met)
c.1743C>A
c.1930C>A (p.Leu644Met)
c.*5139C>A (n.*5139C>A)
c.2021-1468C>A (n.2021-1468C>A)
c.286C>A (p.Leu96Met)
c.829C>A (p.Leu277Met)
c.55C>A (p.Leu19Met)
n.5492C>A
n.5533C>A
 ClinVar dbSNP
17g.43049172C>ACA003520BRCA1c.5352G>T (p.Gln1784His)
c.5355G>T (p.Gln1785His)
c.5229G>T (p.Gln1743His)
c.5349G>T (p.Gln1783His)
c.5277G>T (p.Gln1759His)
c.2043G>T (p.Gln681His)
c.1905G>T (p.Gln635His)
c.4467G>T (p.Gln1489His)
c.5232G>T (p.Gln1744His)
c.5421G>T (p.Gln1807His)
c.5214G>T (p.Gln1738His)
c.1917G>T (p.Gln639His)
n.1238G>T
c.5418G>T (p.Gln1806His)
c.1742G>T
c.1929G>T (p.Gln643His)
c.*5138G>T (n.*5138G>T)
c.2021-1469G>T (n.2021-1469G>T)
c.285G>T (p.Gln95His)
c.828G>T (p.Gln276His)
c.54G>T (p.Gln18His)
n.5491G>T
n.5532G>T
 ClinVar dbSNP
17g.43049172C=CA2260762771BRCA1c.5352G= (p.Gln1784=)
c.5355G= (p.Gln1785=)
c.5229G= (p.Gln1743=)
c.5349G= (p.Gln1783=)
c.5277G= (p.Gln1759=)
c.2043G= (p.Gln681=)
c.1905G= (p.Gln635=)
c.4467G= (p.Gln1489=)
c.5232G= (p.Gln1744=)
c.5421G= (p.Gln1807=)
c.5214G= (p.Gln1738=)
c.1917G= (p.Gln639=)
n.1238G=
c.5418G= (p.Gln1806=)
c.1742G=
c.1929G= (p.Gln643=)
c.*5138G= (n.*5138G=)
c.2021-1469G= (n.2021-1469G=)
c.285G= (p.Gln95=)
c.828G= (p.Gln276=)
c.54G= (p.Gln18=)
n.5491G=
n.5532G=
17g.43049172C>GCA10590753BRCA1c.5352G>C (p.Gln1784His)
c.5355G>C (p.Gln1785His)
c.5229G>C (p.Gln1743His)
c.5349G>C (p.Gln1783His)
c.5277G>C (p.Gln1759His)
c.2043G>C (p.Gln681His)
c.1905G>C (p.Gln635His)
c.4467G>C (p.Gln1489His)
c.5232G>C (p.Gln1744His)
c.5421G>C (p.Gln1807His)
c.5214G>C (p.Gln1738His)
c.1917G>C (p.Gln639His)
n.1238G>C
c.5418G>C (p.Gln1806His)
c.1742G>C
c.1929G>C (p.Gln643His)
c.*5138G>C (n.*5138G>C)
c.2021-1469G>C (n.2021-1469G>C)
c.285G>C (p.Gln95His)
c.828G>C (p.Gln276His)
c.54G>C (p.Gln18His)
n.5491G>C
n.5532G>C
 ClinVar dbSNP
17g.43049172C>TCA500143312BRCA1c.5352G>A (p.Gln1784=)
c.5355G>A (p.Gln1785=)
c.5229G>A (p.Gln1743=)
c.5349G>A (p.Gln1783=)
c.5277G>A (p.Gln1759=)
c.2043G>A (p.Gln681=)
c.1905G>A (p.Gln635=)
c.4467G>A (p.Gln1489=)
c.5232G>A (p.Gln1744=)
c.5421G>A (p.Gln1807=)
c.5214G>A (p.Gln1738=)
c.1917G>A (p.Gln639=)
n.1238G>A
c.5418G>A (p.Gln1806=)
c.1742G>A
c.1929G>A (p.Gln643=)
c.*5138G>A (n.*5138G>A)
c.2021-1469G>A (n.2021-1469G>A)
c.285G>A (p.Gln95=)
c.828G>A (p.Gln276=)
c.54G>A (p.Gln18=)
n.5491G>A
n.5532G>A
 ClinVar dbSNP
17g.43049172_43049173delinsGGCA2580093957BRCA1c.5351_5352delinsCC (p.Gln1784Pro)
c.5354_5355delinsCC (p.Gln1785Pro)
c.5228_5229delinsCC (p.Gln1743Pro)
c.5348_5349delinsCC (p.Gln1783Pro)
c.5276_5277delinsCC (p.Gln1759Pro)
c.2042_2043delinsCC (p.Gln681Pro)
c.1904_1905delinsCC (p.Gln635Pro)
c.4466_4467delinsCC (p.Gln1489Pro)
c.5231_5232delinsCC (p.Gln1744Pro)
c.5420_5421delinsCC (p.Gln1807Pro)
c.5213_5214delinsCC (p.Gln1738Pro)
c.1916_1917delinsCC (p.Gln639Pro)
n.1237_1238delinsCC
c.5417_5418delinsCC (p.Gln1806Pro)
c.1741_1742delinsCC
c.1928_1929delinsCC (p.Gln643Pro)
c.*5137_*5138delinsCC (n.*5137_*5138delinsCC)
c.2021-1470_2021-1469delinsCC (n.2021-1470_2021-1469delinsCC)
c.284_285delinsCC (p.Gln95Pro)
c.827_828delinsCC (p.Gln276Pro)
c.53_54delinsCC (p.Gln18Pro)
n.5490_5491delinsCC
n.5531_5532delinsCC
 ClinVar
17g.43049173T>ACA10590754BRCA1c.5351A>T (p.Gln1784Leu)
c.5354A>T (p.Gln1785Leu)
c.5228A>T (p.Gln1743Leu)
c.5348A>T (p.Gln1783Leu)
c.5276A>T (p.Gln1759Leu)
c.2042A>T (p.Gln681Leu)
c.1904A>T (p.Gln635Leu)
c.4466A>T (p.Gln1489Leu)
c.5231A>T (p.Gln1744Leu)
c.5420A>T (p.Gln1807Leu)
c.5213A>T (p.Gln1738Leu)
c.1916A>T (p.Gln639Leu)
n.1237A>T
c.5417A>T (p.Gln1806Leu)
c.1741A>T
c.1928A>T (p.Gln643Leu)
c.*5137A>T (n.*5137A>T)
c.2021-1470A>T (n.2021-1470A>T)
c.284A>T (p.Gln95Leu)
c.827A>T (p.Gln276Leu)
c.53A>T (p.Gln18Leu)
n.5490A>T
n.5531A>T
 ClinVar dbSNP
17g.43049173T>CCA10590755BRCA1c.5351A>G (p.Gln1784Arg)
c.5354A>G (p.Gln1785Arg)
c.5228A>G (p.Gln1743Arg)
c.5348A>G (p.Gln1783Arg)
c.5276A>G (p.Gln1759Arg)
c.2042A>G (p.Gln681Arg)
c.1904A>G (p.Gln635Arg)
c.4466A>G (p.Gln1489Arg)
c.5231A>G (p.Gln1744Arg)
c.5420A>G (p.Gln1807Arg)
c.5213A>G (p.Gln1738Arg)
c.1916A>G (p.Gln639Arg)
n.1237A>G
c.5417A>G (p.Gln1806Arg)
c.1741A>G
c.1928A>G (p.Gln643Arg)
c.*5137A>G (n.*5137A>G)
c.2021-1470A>G (n.2021-1470A>G)
c.284A>G (p.Gln95Arg)
c.827A>G (p.Gln276Arg)
c.53A>G (p.Gln18Arg)
n.5490A>G
n.5531A>G
 ClinVar dbSNP
17g.43049173T>GCA10580485BRCA1c.5351A>C (p.Gln1784Pro)
c.5354A>C (p.Gln1785Pro)
c.5228A>C (p.Gln1743Pro)
c.5348A>C (p.Gln1783Pro)
c.5276A>C (p.Gln1759Pro)
c.2042A>C (p.Gln681Pro)
c.1904A>C (p.Gln635Pro)
c.4466A>C (p.Gln1489Pro)
c.5231A>C (p.Gln1744Pro)
c.5420A>C (p.Gln1807Pro)
c.5213A>C (p.Gln1738Pro)
c.1916A>C (p.Gln639Pro)
n.1237A>C
c.5417A>C (p.Gln1806Pro)
c.1741A>C
c.1928A>C (p.Gln643Pro)
c.*5137A>C (n.*5137A>C)
c.2021-1470A>C (n.2021-1470A>C)
c.284A>C (p.Gln95Pro)
c.827A>C (p.Gln276Pro)
c.53A>C (p.Gln18Pro)
n.5490A>C
n.5531A>C
 ClinVar dbSNP
17g.43049173T=CA2260762772BRCA1c.5351A= (p.Gln1784=)
c.5354A= (p.Gln1785=)
c.5228A= (p.Gln1743=)
c.5348A= (p.Gln1783=)
c.5276A= (p.Gln1759=)
c.2042A= (p.Gln681=)
c.1904A= (p.Gln635=)
c.4466A= (p.Gln1489=)
c.5231A= (p.Gln1744=)
c.5420A= (p.Gln1807=)
c.5213A= (p.Gln1738=)
c.1916A= (p.Gln639=)
n.1237A=
c.5417A= (p.Gln1806=)
c.1741A=
c.1928A= (p.Gln643=)
c.*5137A= (n.*5137A=)
c.2021-1470A= (n.2021-1470A=)
c.284A= (p.Gln95=)
c.827A= (p.Gln276=)
c.53A= (p.Gln18=)
n.5490A=
n.5531A=
17g.43049174_43049175dupCA10589595BRCA1c.5350_5351dup (p.Gln1784HisfsTer9)
c.5353_5354dup (p.Gln1785HisfsTer9)
c.5227_5228dup (p.Gln1743HisfsTer9)
c.5347_5348dup (p.Gln1783HisfsTer9)
c.5275_5276dup (p.Gln1759HisfsTer9)
c.2041_2042dup (p.Gln681HisfsTer9)
c.1903_1904dup (p.Gln635HisfsTer9)
c.4465_4466dup (p.Gln1489HisfsTer9)
c.5230_5231dup (p.Gln1744HisfsTer9)
c.5419_5420dup (p.Gln1807HisfsTer9)
c.5212_5213dup (p.Gln1738HisfsTer9)
c.1915_1916dup (p.Gln639HisfsTer9)
n.1236_1237dup
c.5416_5417dup (p.Gln1806HisfsTer9)
c.1740_1741dup
c.1927_1928dup (p.Gln643HisfsTer9)
c.*5136_*5137dup (n.*5136_*5137dup)
c.2021-1471_2021-1470dup (n.2021-1471_2021-1470dup)
c.283_284dup (p.Gln95HisfsTer9)
c.826_827dup (p.Gln276HisfsTer9)
c.52_53dup (p.Gln18HisfsTer9)
n.5489_5490dup
n.5530_5531dup
 ClinVar dbSNP
17g.43049174G>ACA003519BRCA1c.5350C>T (p.Gln1784Ter)
c.5353C>T (p.Gln1785Ter)
c.5227C>T (p.Gln1743Ter)
c.5347C>T (p.Gln1783Ter)
c.5275C>T (p.Gln1759Ter)
c.2041C>T (p.Gln681Ter)
c.1903C>T (p.Gln635Ter)
c.4465C>T (p.Gln1489Ter)
c.5230C>T (p.Gln1744Ter)
c.5419C>T (p.Gln1807Ter)
c.5212C>T (p.Gln1738Ter)
c.1915C>T (p.Gln639Ter)
n.1236C>T
c.5416C>T (p.Gln1806Ter)
c.1740C>T
c.1927C>T (p.Gln643Ter)
c.*5136C>T (n.*5136C>T)
c.2021-1471C>T (n.2021-1471C>T)
c.283C>T (p.Gln95Ter)
c.826C>T (p.Gln276Ter)
c.52C>T (p.Gln18Ter)
n.5489C>T
n.5530C>T
 ClinVar dbSNP gnomAD v4
17g.43049174G>CCA10590756BRCA1c.5350C>G (p.Gln1784Glu)
c.5353C>G (p.Gln1785Glu)
c.5227C>G (p.Gln1743Glu)
c.5347C>G (p.Gln1783Glu)
c.5275C>G (p.Gln1759Glu)
c.2041C>G (p.Gln681Glu)
c.1903C>G (p.Gln635Glu)
c.4465C>G (p.Gln1489Glu)
c.5230C>G (p.Gln1744Glu)
c.5419C>G (p.Gln1807Glu)
c.5212C>G (p.Gln1738Glu)
c.1915C>G (p.Gln639Glu)
n.1236C>G
c.5416C>G (p.Gln1806Glu)
c.1740C>G
c.1927C>G (p.Gln643Glu)
c.*5136C>G (n.*5136C>G)
c.2021-1471C>G (n.2021-1471C>G)
c.283C>G (p.Gln95Glu)
c.826C>G (p.Gln276Glu)
c.52C>G (p.Gln18Glu)
n.5489C>G
n.5530C>G
 ClinVar dbSNP
17g.43049174G=CA2260762773BRCA1c.5350C= (p.Gln1784=)
c.5353C= (p.Gln1785=)
c.5227C= (p.Gln1743=)
c.5347C= (p.Gln1783=)
c.5275C= (p.Gln1759=)
c.2041C= (p.Gln681=)
c.1903C= (p.Gln635=)
c.4465C= (p.Gln1489=)
c.5230C= (p.Gln1744=)
c.5419C= (p.Gln1807=)
c.5212C= (p.Gln1738=)
c.1915C= (p.Gln639=)
n.1236C=
c.5416C= (p.Gln1806=)
c.1740C=
c.1927C= (p.Gln643=)
c.*5136C= (n.*5136C=)
c.2021-1471C= (n.2021-1471C=)
c.283C= (p.Gln95=)
c.826C= (p.Gln276=)
c.52C= (p.Gln18=)
n.5489C=
n.5530C=
17g.43049174G>TCA10590757BRCA1c.5350C>A (p.Gln1784Lys)
c.5353C>A (p.Gln1785Lys)
c.5227C>A (p.Gln1743Lys)
c.5347C>A (p.Gln1783Lys)
c.5275C>A (p.Gln1759Lys)
c.2041C>A (p.Gln681Lys)
c.1903C>A (p.Gln635Lys)
c.4465C>A (p.Gln1489Lys)
c.5230C>A (p.Gln1744Lys)
c.5419C>A (p.Gln1807Lys)
c.5212C>A (p.Gln1738Lys)
c.1915C>A (p.Gln639Lys)
n.1236C>A
c.5416C>A (p.Gln1806Lys)
c.1740C>A
c.1927C>A (p.Gln643Lys)
c.*5136C>A (n.*5136C>A)
c.2021-1471C>A (n.2021-1471C>A)
c.283C>A (p.Gln95Lys)
c.826C>A (p.Gln276Lys)
c.52C>A (p.Gln18Lys)
n.5489C>A
n.5530C>A
 ClinVar dbSNP
17g.43049175delCA2638060697BRCA1c.5349del (p.Gln1784SerfsTer8)
c.5352del (p.Gln1785SerfsTer8)
c.5226del (p.Gln1743SerfsTer8)
c.5346del (p.Gln1783SerfsTer8)
c.5274del (p.Gln1759SerfsTer8)
c.2040del (p.Gln681SerfsTer8)
c.1902del (p.Gln635SerfsTer8)
c.4464del (p.Gln1489SerfsTer8)
c.5229del (p.Gln1744SerfsTer8)
c.5418del (p.Gln1807SerfsTer8)
c.5211del (p.Gln1738SerfsTer8)
c.1914del (p.Gln639SerfsTer8)
n.1235del
c.5415del (p.Gln1806SerfsTer8)
c.1739del
c.1926del (p.Gln643SerfsTer8)
c.*5135del (n.*5135del)
c.2021-1472del (n.2021-1472del)
c.282del (p.Gln95SerfsTer8)
c.825del (p.Gln276SerfsTer8)
c.51del (p.Gln18SerfsTer8)
n.5488del
n.5529del
 gnomAD v4
17g.43049175T>ACA500143313BRCA1c.5349A>T (p.Val1783=)
c.5352A>T (p.Val1784=)
c.5226A>T (p.Val1742=)
c.5346A>T (p.Val1782=)
c.5274A>T (p.Val1758=)
c.2040A>T (p.Val680=)
c.1902A>T (p.Val634=)
c.4464A>T (p.Val1488=)
c.5229A>T (p.Val1743=)
c.5418A>T (p.Val1806=)
c.5211A>T (p.Val1737=)
c.1914A>T (p.Val638=)
n.1235A>T
c.5415A>T (p.Val1805=)
c.1739A>T
c.1926A>T (p.Val642=)
c.*5135A>T (n.*5135A>T)
c.2021-1472A>T (n.2021-1472A>T)
c.282A>T (p.Val94=)
c.825A>T (p.Val275=)
c.51A>T (p.Val17=)
n.5488A>T
n.5529A>T
 ClinVar dbSNP
17g.43049175T>CCA054693BRCA1c.5349A>G (p.Val1783=)
c.5352A>G (p.Val1784=)
c.5226A>G (p.Val1742=)
c.5346A>G (p.Val1782=)
c.5274A>G (p.Val1758=)
c.2040A>G (p.Val680=)
c.1902A>G (p.Val634=)
c.4464A>G (p.Val1488=)
c.5229A>G (p.Val1743=)
c.5418A>G (p.Val1806=)
c.5211A>G (p.Val1737=)
c.1914A>G (p.Val638=)
n.1235A>G
c.5415A>G (p.Val1805=)
c.1739A>G
c.1926A>G (p.Val642=)
c.*5135A>G (n.*5135A>G)
c.2021-1472A>G (n.2021-1472A>G)
c.282A>G (p.Val94=)
c.825A>G (p.Val275=)
c.51A>G (p.Val17=)
n.5488A>G
n.5529A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049175T>GCA500143314BRCA1c.5349A>C (p.Val1783=)
c.5352A>C (p.Val1784=)
c.5226A>C (p.Val1742=)
c.5346A>C (p.Val1782=)
c.5274A>C (p.Val1758=)
c.2040A>C (p.Val680=)
c.1902A>C (p.Val634=)
c.4464A>C (p.Val1488=)
c.5229A>C (p.Val1743=)
c.5418A>C (p.Val1806=)
c.5211A>C (p.Val1737=)
c.1914A>C (p.Val638=)
n.1235A>C
c.5415A>C (p.Val1805=)
c.1739A>C
c.1926A>C (p.Val642=)
c.*5135A>C (n.*5135A>C)
c.2021-1472A>C (n.2021-1472A>C)
c.282A>C (p.Val94=)
c.825A>C (p.Val275=)
c.51A>C (p.Val17=)
n.5488A>C
n.5529A>C
 ClinVar dbSNP
17g.43049175T=CA2260762774BRCA1c.5349A= (p.Val1783=)
c.5352A= (p.Val1784=)
c.5226A= (p.Val1742=)
c.5346A= (p.Val1782=)
c.5274A= (p.Val1758=)
c.2040A= (p.Val680=)
c.1902A= (p.Val634=)
c.4464A= (p.Val1488=)
c.5229A= (p.Val1743=)
c.5418A= (p.Val1806=)
c.5211A= (p.Val1737=)
c.1914A= (p.Val638=)
n.1235A=
c.5415A= (p.Val1805=)
c.1739A=
c.1926A= (p.Val642=)
c.*5135A= (n.*5135A=)
c.2021-1472A= (n.2021-1472A=)
c.282A= (p.Val94=)
c.825A= (p.Val275=)
c.51A= (p.Val17=)
n.5488A=
n.5529A=
17g.43049175dupCA003518BRCA1c.5349dup (p.Gln1784ThrfsTer?)
c.5352dup (p.Gln1785ThrfsTer?)
c.5226dup (p.Gln1743ThrfsTer?)
c.5346dup (p.Gln1783ThrfsTer?)
c.5274dup (p.Gln1759ThrfsTer?)
c.2040dup (p.Gln681ThrfsTer?)
c.1902dup (p.Gln635ThrfsTer?)
c.4464dup (p.Gln1489ThrfsTer?)
c.5229dup (p.Gln1744ThrfsTer?)
c.5418dup (p.Gln1807ThrfsTer?)
c.5211dup (p.Gln1738ThrfsTer?)
c.1914dup (p.Gln639ThrfsTer?)
n.1235dup
c.5415dup (p.Gln1806ThrfsTer?)
c.1739dup
c.1926dup (p.Gln643ThrfsTer?)
c.*5135dup (n.*5135dup)
c.2021-1472dup (n.2021-1472dup)
c.282dup (p.Gln95ThrfsTer?)
c.825dup (p.Gln276ThrfsTer?)
c.51dup (p.Gln18ThrfsTer?)
n.5488dup
n.5529dup
 ClinVar dbSNP
17g.43049176A=CA2260762775BRCA1c.5348T= (p.Val1783=)
c.5351T= (p.Val1784=)
c.5225T= (p.Val1742=)
c.5345T= (p.Val1782=)
c.5273T= (p.Val1758=)
c.2039T= (p.Val680=)
c.1901T= (p.Val634=)
c.4463T= (p.Val1488=)
c.5228T= (p.Val1743=)
c.5417T= (p.Val1806=)
c.5210T= (p.Val1737=)
c.1913T= (p.Val638=)
n.1234T=
c.5414T= (p.Val1805=)
c.1738T=
c.1925T= (p.Val642=)
c.*5134T= (n.*5134T=)
c.2021-1473T= (n.2021-1473T=)
c.281T= (p.Val94=)
c.824T= (p.Val275=)
c.50T= (p.Val17=)
n.5487T=
n.5528T=
17g.43049176A>CCA10590758BRCA1c.5348T>G (p.Val1783Gly)
c.5351T>G (p.Val1784Gly)
c.5225T>G (p.Val1742Gly)
c.5345T>G (p.Val1782Gly)
c.5273T>G (p.Val1758Gly)
c.2039T>G (p.Val680Gly)
c.1901T>G (p.Val634Gly)
c.4463T>G (p.Val1488Gly)
c.5228T>G (p.Val1743Gly)
c.5417T>G (p.Val1806Gly)
c.5210T>G (p.Val1737Gly)
c.1913T>G (p.Val638Gly)
n.1234T>G
c.5414T>G (p.Val1805Gly)
c.1738T>G
c.1925T>G (p.Val642Gly)
c.*5134T>G (n.*5134T>G)
c.2021-1473T>G (n.2021-1473T>G)
c.281T>G (p.Val94Gly)
c.824T>G (p.Val275Gly)
c.50T>G (p.Val17Gly)
n.5487T>G
n.5528T>G
 ClinVar dbSNP gnomAD v2
17g.43049176A>GCA10590759BRCA1c.5348T>C (p.Val1783Ala)
c.5351T>C (p.Val1784Ala)
c.5225T>C (p.Val1742Ala)
c.5345T>C (p.Val1782Ala)
c.5273T>C (p.Val1758Ala)
c.2039T>C (p.Val680Ala)
c.1901T>C (p.Val634Ala)
c.4463T>C (p.Val1488Ala)
c.5228T>C (p.Val1743Ala)
c.5417T>C (p.Val1806Ala)
c.5210T>C (p.Val1737Ala)
c.1913T>C (p.Val638Ala)
n.1234T>C
c.5414T>C (p.Val1805Ala)
c.1738T>C
c.1925T>C (p.Val642Ala)
c.*5134T>C (n.*5134T>C)
c.2021-1473T>C (n.2021-1473T>C)
c.281T>C (p.Val94Ala)
c.824T>C (p.Val275Ala)
c.50T>C (p.Val17Ala)
n.5487T>C
n.5528T>C
 ClinVar dbSNP
17g.43049176A>TCA10590760BRCA1c.5348T>A (p.Val1783Glu)
c.5351T>A (p.Val1784Glu)
c.5225T>A (p.Val1742Glu)
c.5345T>A (p.Val1782Glu)
c.5273T>A (p.Val1758Glu)
c.2039T>A (p.Val680Glu)
c.1901T>A (p.Val634Glu)
c.4463T>A (p.Val1488Glu)
c.5228T>A (p.Val1743Glu)
c.5417T>A (p.Val1806Glu)
c.5210T>A (p.Val1737Glu)
c.1913T>A (p.Val638Glu)
n.1234T>A
c.5414T>A (p.Val1805Glu)
c.1738T>A
c.1925T>A (p.Val642Glu)
c.*5134T>A (n.*5134T>A)
c.2021-1473T>A (n.2021-1473T>A)
c.281T>A (p.Val94Glu)
c.824T>A (p.Val275Glu)
c.50T>A (p.Val17Glu)
n.5487T>A
n.5528T>A
 ClinVar dbSNP
17g.43049176_43049177delinsACCA2260762776BRCA1c.5347_5348delinsGT (p.Val1783=)
c.5350_5351delinsGT (p.Val1784=)
c.5224_5225delinsGT (p.Val1742=)
c.5344_5345delinsGT (p.Val1782=)
c.5272_5273delinsGT (p.Val1758=)
c.2038_2039delinsGT (p.Val680=)
c.1900_1901delinsGT (p.Val634=)
c.4462_4463delinsGT (p.Val1488=)
c.5227_5228delinsGT (p.Val1743=)
c.5416_5417delinsGT (p.Val1806=)
c.5209_5210delinsGT (p.Val1737=)
c.1912_1913delinsGT (p.Val638=)
n.1233_1234delinsGT
c.5413_5414delinsGT (p.Val1805=)
c.1737_1738delinsGT
c.1924_1925delinsGT (p.Val642=)
c.*5133_*5134delinsGT (n.*5133_*5134delinsGT)
c.2021-1474_2021-1473delinsGT (n.2021-1474_2021-1473delinsGT)
c.280_281delinsGT (p.Val94=)
c.823_824delinsGT (p.Val275=)
c.49_50delinsGT (p.Val17=)
n.5486_5487delinsGT
n.5527_5528delinsGT
17g.43049177C>ACA10590761BRCA1c.5347G>T (p.Val1783Leu)
c.5350G>T (p.Val1784Leu)
c.5224G>T (p.Val1742Leu)
c.5344G>T (p.Val1782Leu)
c.5272G>T (p.Val1758Leu)
c.2038G>T (p.Val680Leu)
c.1900G>T (p.Val634Leu)
c.4462G>T (p.Val1488Leu)
c.5227G>T (p.Val1743Leu)
c.5416G>T (p.Val1806Leu)
c.5209G>T (p.Val1737Leu)
c.1912G>T (p.Val638Leu)
n.1233G>T
c.5413G>T (p.Val1805Leu)
c.1737G>T
c.1924G>T (p.Val642Leu)
c.*5133G>T (n.*5133G>T)
c.2021-1474G>T (n.2021-1474G>T)
c.280G>T (p.Val94Leu)
c.823G>T (p.Val275Leu)
c.49G>T (p.Val17Leu)
n.5486G>T
n.5527G>T
 ClinVar dbSNP
17g.43049177C=CA2260762777BRCA1c.5347G= (p.Val1783=)
c.5350G= (p.Val1784=)
c.5224G= (p.Val1742=)
c.5344G= (p.Val1782=)
c.5272G= (p.Val1758=)
c.2038G= (p.Val680=)
c.1900G= (p.Val634=)
c.4462G= (p.Val1488=)
c.5227G= (p.Val1743=)
c.5416G= (p.Val1806=)
c.5209G= (p.Val1737=)
c.1912G= (p.Val638=)
n.1233G=
c.5413G= (p.Val1805=)
c.1737G=
c.1924G= (p.Val642=)
c.*5133G= (n.*5133G=)
c.2021-1474G= (n.2021-1474G=)
c.280G= (p.Val94=)
c.823G= (p.Val275=)
c.49G= (p.Val17=)
n.5486G=
n.5527G=
17g.43049177C>GCA10590762BRCA1c.5347G>C (p.Val1783Leu)
c.5350G>C (p.Val1784Leu)
c.5224G>C (p.Val1742Leu)
c.5344G>C (p.Val1782Leu)
c.5272G>C (p.Val1758Leu)
c.2038G>C (p.Val680Leu)
c.1900G>C (p.Val634Leu)
c.4462G>C (p.Val1488Leu)
c.5227G>C (p.Val1743Leu)
c.5416G>C (p.Val1806Leu)
c.5209G>C (p.Val1737Leu)
c.1912G>C (p.Val638Leu)
n.1233G>C
c.5413G>C (p.Val1805Leu)
c.1737G>C
c.1924G>C (p.Val642Leu)
c.*5133G>C (n.*5133G>C)
c.2021-1474G>C (n.2021-1474G>C)
c.280G>C (p.Val94Leu)
c.823G>C (p.Val275Leu)
c.49G>C (p.Val17Leu)
n.5486G>C
n.5527G>C
 ClinVar dbSNP
17g.43049177C>TCA10590763BRCA1c.5347G>A (p.Val1783Ile)
c.5350G>A (p.Val1784Ile)
c.5224G>A (p.Val1742Ile)
c.5344G>A (p.Val1782Ile)
c.5272G>A (p.Val1758Ile)
c.2038G>A (p.Val680Ile)
c.1900G>A (p.Val634Ile)
c.4462G>A (p.Val1488Ile)
c.5227G>A (p.Val1743Ile)
c.5416G>A (p.Val1806Ile)
c.5209G>A (p.Val1737Ile)
c.1912G>A (p.Val638Ile)
n.1233G>A
c.5413G>A (p.Val1805Ile)
c.1737G>A
c.1924G>A (p.Val642Ile)
c.*5133G>A (n.*5133G>A)
c.2021-1474G>A (n.2021-1474G>A)
c.280G>A (p.Val94Ile)
c.823G>A (p.Val275Ile)
c.49G>A (p.Val17Ile)
n.5486G>A
n.5527G>A
 ClinVar dbSNP
17g.43049178delCA1139665552BRCA1c.5347del (p.Val1783TyrfsTer9)
c.5350del (p.Val1784TyrfsTer9)
c.5224del (p.Val1742TyrfsTer9)
c.5344del (p.Val1782TyrfsTer9)
c.5272del (p.Val1758TyrfsTer9)
c.2038del (p.Val680TyrfsTer9)
c.1900del (p.Val634TyrfsTer9)
c.4462del (p.Val1488TyrfsTer9)
c.5227del (p.Val1743TyrfsTer9)
c.5416del (p.Val1806TyrfsTer9)
c.5209del (p.Val1737TyrfsTer9)
c.1912del (p.Val638TyrfsTer9)
n.1233del
c.5413del (p.Val1805TyrfsTer9)
c.1737del
c.1924del (p.Val642TyrfsTer9)
c.*5133del (n.*5133del)
c.2021-1474del (n.2021-1474del)
c.280del (p.Val94TyrfsTer9)
c.823del (p.Val275TyrfsTer9)
c.49del (p.Val17TyrfsTer9)
n.5486del
n.5527del
 ClinVar dbSNP
17g.43049178C>ACA10590764BRCA1c.5346G>T (p.Met1782Ile)
c.5349G>T (p.Met1783Ile)
c.5223G>T (p.Met1741Ile)
c.5343G>T (p.Met1781Ile)
c.5271G>T (p.Met1757Ile)
c.2037G>T (p.Met679Ile)
c.1899G>T (p.Met633Ile)
c.4461G>T (p.Met1487Ile)
c.5226G>T (p.Met1742Ile)
c.5415G>T (p.Met1805Ile)
c.5208G>T (p.Met1736Ile)
c.1911G>T (p.Met637Ile)
n.1232G>T
c.5412G>T (p.Met1804Ile)
c.1736G>T
c.1923G>T (p.Met641Ile)
c.*5132G>T (n.*5132G>T)
c.2021-1475G>T (n.2021-1475G>T)
c.279G>T (p.Met93Ile)
c.822G>T (p.Met274Ile)
c.48G>T (p.Met16Ile)
n.5485G>T
n.5526G>T
 ClinVar dbSNP
17g.43049178C=CA2260762778BRCA1c.5346G= (p.Met1782=)
c.5349G= (p.Met1783=)
c.5223G= (p.Met1741=)
c.5343G= (p.Met1781=)
c.5271G= (p.Met1757=)
c.2037G= (p.Met679=)
c.1899G= (p.Met633=)
c.4461G= (p.Met1487=)
c.5226G= (p.Met1742=)
c.5415G= (p.Met1805=)
c.5208G= (p.Met1736=)
c.1911G= (p.Met637=)
n.1232G=
c.5412G= (p.Met1804=)
c.1736G=
c.1923G= (p.Met641=)
c.*5132G= (n.*5132G=)
c.2021-1475G= (n.2021-1475G=)
c.279G= (p.Met93=)
c.822G= (p.Met274=)
c.48G= (p.Met16=)
n.5485G=
n.5526G=
17g.43049178C>GCA10590765BRCA1c.5346G>C (p.Met1782Ile)
c.5349G>C (p.Met1783Ile)
c.5223G>C (p.Met1741Ile)
c.5343G>C (p.Met1781Ile)
c.5271G>C (p.Met1757Ile)
c.2037G>C (p.Met679Ile)
c.1899G>C (p.Met633Ile)
c.4461G>C (p.Met1487Ile)
c.5226G>C (p.Met1742Ile)
c.5415G>C (p.Met1805Ile)
c.5208G>C (p.Met1736Ile)
c.1911G>C (p.Met637Ile)
n.1232G>C
c.5412G>C (p.Met1804Ile)
c.1736G>C
c.1923G>C (p.Met641Ile)
c.*5132G>C (n.*5132G>C)
c.2021-1475G>C (n.2021-1475G>C)
c.279G>C (p.Met93Ile)
c.822G>C (p.Met274Ile)
c.48G>C (p.Met16Ile)
n.5485G>C
n.5526G>C
 ClinVar dbSNP
17g.43049178C>TCA003517BRCA1c.5346G>A (p.Met1782Ile)
c.5349G>A (p.Met1783Ile)
c.5223G>A (p.Met1741Ile)
c.5343G>A (p.Met1781Ile)
c.5271G>A (p.Met1757Ile)
c.2037G>A (p.Met679Ile)
c.1899G>A (p.Met633Ile)
c.4461G>A (p.Met1487Ile)
c.5226G>A (p.Met1742Ile)
c.5415G>A (p.Met1805Ile)
c.5208G>A (p.Met1736Ile)
c.1911G>A (p.Met637Ile)
n.1232G>A
c.5412G>A (p.Met1804Ile)
c.1736G>A
c.1923G>A (p.Met641Ile)
c.*5132G>A (n.*5132G>A)
c.2021-1475G>A (n.2021-1475G>A)
c.279G>A (p.Met93Ile)
c.822G>A (p.Met274Ile)
c.48G>A (p.Met16Ile)
n.5485G>A
n.5526G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43049178_43049179delinsCACA2260762779BRCA1c.5345_5346delinsTG (p.Met1782=)
c.5348_5349delinsTG (p.Met1783=)
c.5222_5223delinsTG (p.Met1741=)
c.5342_5343delinsTG (p.Met1781=)
c.5270_5271delinsTG (p.Met1757=)
c.2036_2037delinsTG (p.Met679=)
c.1898_1899delinsTG (p.Met633=)
c.4460_4461delinsTG (p.Met1487=)
c.5225_5226delinsTG (p.Met1742=)
c.5414_5415delinsTG (p.Met1805=)
c.5207_5208delinsTG (p.Met1736=)
c.1910_1911delinsTG (p.Met637=)
n.1231_1232delinsTG
c.5411_5412delinsTG (p.Met1804=)
c.1735_1736delinsTG
c.1922_1923delinsTG (p.Met641=)
c.*5131_*5132delinsTG (n.*5131_*5132delinsTG)
c.2021-1476_2021-1475delinsTG (n.2021-1476_2021-1475delinsTG)
c.278_279delinsTG (p.Met93=)
c.821_822delinsTG (p.Met274=)
c.47_48delinsTG (p.Met16=)
n.5484_5485delinsTG
n.5525_5526delinsTG
17g.43049179delCA10589596BRCA1c.5345del (p.Met1782ArgfsTer10)
c.5348del (p.Met1783ArgfsTer10)
c.5222del (p.Met1741ArgfsTer10)
c.5342del (p.Met1781ArgfsTer10)
c.5270del (p.Met1757ArgfsTer10)
c.2036del (p.Met679ArgfsTer10)
c.1898del (p.Met633ArgfsTer10)
c.4460del (p.Met1487ArgfsTer10)
c.5225del (p.Met1742ArgfsTer10)
c.5414del (p.Met1805ArgfsTer10)
c.5207del (p.Met1736ArgfsTer10)
c.1910del (p.Met637ArgfsTer10)
n.1231del
c.5411del (p.Met1804ArgfsTer10)
c.1735del
c.1922del (p.Met641ArgfsTer10)
c.*5131del (n.*5131del)
c.2021-1476del (n.2021-1476del)
c.278del (p.Met93ArgfsTer10)
c.821del (p.Met274ArgfsTer10)
c.47del (p.Met16ArgfsTer10)
n.5484del
n.5525del
 ClinVar dbSNP
17g.43049179A=CA2260762780BRCA1c.5345T= (p.Met1782=)
c.5348T= (p.Met1783=)
c.5222T= (p.Met1741=)
c.5342T= (p.Met1781=)
c.5270T= (p.Met1757=)
c.2036T= (p.Met679=)
c.1898T= (p.Met633=)
c.4460T= (p.Met1487=)
c.5225T= (p.Met1742=)
c.5414T= (p.Met1805=)
c.5207T= (p.Met1736=)
c.1910T= (p.Met637=)
n.1231T=
c.5411T= (p.Met1804=)
c.1735T=
c.1922T= (p.Met641=)
c.*5131T= (n.*5131T=)
c.2021-1476T= (n.2021-1476T=)
c.278T= (p.Met93=)
c.821T= (p.Met274=)
c.47T= (p.Met16=)
n.5484T=
n.5525T=
17g.43049179A>CCA10590766BRCA1c.5345T>G (p.Met1782Arg)
c.5348T>G (p.Met1783Arg)
c.5222T>G (p.Met1741Arg)
c.5342T>G (p.Met1781Arg)
c.5270T>G (p.Met1757Arg)
c.2036T>G (p.Met679Arg)
c.1898T>G (p.Met633Arg)
c.4460T>G (p.Met1487Arg)
c.5225T>G (p.Met1742Arg)
c.5414T>G (p.Met1805Arg)
c.5207T>G (p.Met1736Arg)
c.1910T>G (p.Met637Arg)
n.1231T>G
c.5411T>G (p.Met1804Arg)
c.1735T>G
c.1922T>G (p.Met641Arg)
c.*5131T>G (n.*5131T>G)
c.2021-1476T>G (n.2021-1476T>G)
c.278T>G (p.Met93Arg)
c.821T>G (p.Met274Arg)
c.47T>G (p.Met16Arg)
n.5484T>G
n.5525T>G
 ClinVar dbSNP
17g.43049179A>GCA003516BRCA1c.5345T>C (p.Met1782Thr)
c.5348T>C (p.Met1783Thr)
c.5222T>C (p.Met1741Thr)
c.5342T>C (p.Met1781Thr)
c.5270T>C (p.Met1757Thr)
c.2036T>C (p.Met679Thr)
c.1898T>C (p.Met633Thr)
c.4460T>C (p.Met1487Thr)
c.5225T>C (p.Met1742Thr)
c.5414T>C (p.Met1805Thr)
c.5207T>C (p.Met1736Thr)
c.1910T>C (p.Met637Thr)
n.1231T>C
c.5411T>C (p.Met1804Thr)
c.1735T>C
c.1922T>C (p.Met641Thr)
c.*5131T>C (n.*5131T>C)
c.2021-1476T>C (n.2021-1476T>C)
c.278T>C (p.Met93Thr)
c.821T>C (p.Met274Thr)
c.47T>C (p.Met16Thr)
n.5484T>C
n.5525T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049179A>TCA10590767BRCA1c.5345T>A (p.Met1782Lys)
c.5348T>A (p.Met1783Lys)
c.5222T>A (p.Met1741Lys)
c.5342T>A (p.Met1781Lys)
c.5270T>A (p.Met1757Lys)
c.2036T>A (p.Met679Lys)
c.1898T>A (p.Met633Lys)
c.4460T>A (p.Met1487Lys)
c.5225T>A (p.Met1742Lys)
c.5414T>A (p.Met1805Lys)
c.5207T>A (p.Met1736Lys)
c.1910T>A (p.Met637Lys)
n.1231T>A
c.5411T>A (p.Met1804Lys)
c.1735T>A
c.1922T>A (p.Met641Lys)
c.*5131T>A (n.*5131T>A)
c.2021-1476T>A (n.2021-1476T>A)
c.278T>A (p.Met93Lys)
c.821T>A (p.Met274Lys)
c.47T>A (p.Met16Lys)
n.5484T>A
n.5525T>A
 ClinVar dbSNP
17g.43049180delCA2695226112BRCA1c.5344del (p.Met1782TrpfsTer10)
c.5347del (p.Met1783TrpfsTer10)
c.5221del (p.Met1741TrpfsTer10)
c.5341del (p.Met1781TrpfsTer10)
c.5269del (p.Met1757TrpfsTer10)
c.2035del (p.Met679TrpfsTer10)
c.1897del (p.Met633TrpfsTer10)
c.4459del (p.Met1487TrpfsTer10)
c.5224del (p.Met1742TrpfsTer10)
c.5413del (p.Met1805TrpfsTer10)
c.5206del (p.Met1736TrpfsTer10)
c.1909del (p.Met637TrpfsTer10)
n.1230del
c.5410del (p.Met1804TrpfsTer10)
c.1734del
c.1921del (p.Met641TrpfsTer10)
c.*5130del (n.*5130del)
c.2021-1477del (n.2021-1477del)
c.277del (p.Met93TrpfsTer10)
c.820del (p.Met274TrpfsTer10)
c.46del (p.Met16TrpfsTer10)
n.5483del
n.5524del
17g.43049180T>ACA10590768BRCA1c.5344A>T (p.Met1782Leu)
c.5347A>T (p.Met1783Leu)
c.5221A>T (p.Met1741Leu)
c.5341A>T (p.Met1781Leu)
c.5269A>T (p.Met1757Leu)
c.2035A>T (p.Met679Leu)
c.1897A>T (p.Met633Leu)
c.4459A>T (p.Met1487Leu)
c.5224A>T (p.Met1742Leu)
c.5413A>T (p.Met1805Leu)
c.5206A>T (p.Met1736Leu)
c.1909A>T (p.Met637Leu)
n.1230A>T
c.5410A>T (p.Met1804Leu)
c.1734A>T
c.1921A>T (p.Met641Leu)
c.*5130A>T (n.*5130A>T)
c.2021-1477A>T (n.2021-1477A>T)
c.277A>T (p.Met93Leu)
c.820A>T (p.Met274Leu)
c.46A>T (p.Met16Leu)
n.5483A>T
n.5524A>T
 ClinVar dbSNP
17g.43049180T>CCA10590769BRCA1c.5344A>G (p.Met1782Val)
c.5347A>G (p.Met1783Val)
c.5221A>G (p.Met1741Val)
c.5341A>G (p.Met1781Val)
c.5269A>G (p.Met1757Val)
c.2035A>G (p.Met679Val)
c.1897A>G (p.Met633Val)
c.4459A>G (p.Met1487Val)
c.5224A>G (p.Met1742Val)
c.5413A>G (p.Met1805Val)
c.5206A>G (p.Met1736Val)
c.1909A>G (p.Met637Val)
n.1230A>G
c.5410A>G (p.Met1804Val)
c.1734A>G
c.1921A>G (p.Met641Val)
c.*5130A>G (n.*5130A>G)
c.2021-1477A>G (n.2021-1477A>G)
c.277A>G (p.Met93Val)
c.820A>G (p.Met274Val)
c.46A>G (p.Met16Val)
n.5483A>G
n.5524A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049180T>GCA003515BRCA1c.5344A>C (p.Met1782Leu)
c.5347A>C (p.Met1783Leu)
c.5221A>C (p.Met1741Leu)
c.5341A>C (p.Met1781Leu)
c.5269A>C (p.Met1757Leu)
c.2035A>C (p.Met679Leu)
c.1897A>C (p.Met633Leu)
c.4459A>C (p.Met1487Leu)
c.5224A>C (p.Met1742Leu)
c.5413A>C (p.Met1805Leu)
c.5206A>C (p.Met1736Leu)
c.1909A>C (p.Met637Leu)
n.1230A>C
c.5410A>C (p.Met1804Leu)
c.1734A>C
c.1921A>C (p.Met641Leu)
c.*5130A>C (n.*5130A>C)
c.2021-1477A>C (n.2021-1477A>C)
c.277A>C (p.Met93Leu)
c.820A>C (p.Met274Leu)
c.46A>C (p.Met16Leu)
n.5483A>C
n.5524A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049180T=CA2260762781BRCA1c.5344A= (p.Met1782=)
c.5347A= (p.Met1783=)
c.5221A= (p.Met1741=)
c.5341A= (p.Met1781=)
c.5269A= (p.Met1757=)
c.2035A= (p.Met679=)
c.1897A= (p.Met633=)
c.4459A= (p.Met1487=)
c.5224A= (p.Met1742=)
c.5413A= (p.Met1805=)
c.5206A= (p.Met1736=)
c.1909A= (p.Met637=)
n.1230A=
c.5410A= (p.Met1804=)
c.1734A=
c.1921A= (p.Met641=)
c.*5130A= (n.*5130A=)
c.2021-1477A= (n.2021-1477A=)
c.277A= (p.Met93=)
c.820A= (p.Met274=)
c.46A= (p.Met16=)
n.5483A=
n.5524A=
17g.43049181C>ACA10590770BRCA1c.5343G>T (p.Trp1781Cys)
c.5346G>T (p.Trp1782Cys)
c.5220G>T (p.Trp1740Cys)
c.5340G>T (p.Trp1780Cys)
c.5268G>T (p.Trp1756Cys)
c.2034G>T (p.Trp678Cys)
c.1896G>T (p.Trp632Cys)
c.4458G>T (p.Trp1486Cys)
c.5223G>T (p.Trp1741Cys)
c.5412G>T (p.Trp1804Cys)
c.5205G>T (p.Trp1735Cys)
c.1908G>T (p.Trp636Cys)
n.1229G>T
c.5409G>T (p.Trp1803Cys)
c.1733G>T
c.1920G>T (p.Trp640Cys)
c.*5129G>T (n.*5129G>T)
c.2021-1478G>T (n.2021-1478G>T)
c.276G>T (p.Trp92Cys)
c.819G>T (p.Trp273Cys)
c.45G>T (p.Trp15Cys)
n.5482G>T
n.5523G>T
 ClinVar dbSNP
17g.43049181C=CA2260762782BRCA1c.5343G= (p.Trp1781=)
c.5346G= (p.Trp1782=)
c.5220G= (p.Trp1740=)
c.5340G= (p.Trp1780=)
c.5268G= (p.Trp1756=)
c.2034G= (p.Trp678=)
c.1896G= (p.Trp632=)
c.4458G= (p.Trp1486=)
c.5223G= (p.Trp1741=)
c.5412G= (p.Trp1804=)
c.5205G= (p.Trp1735=)
c.1908G= (p.Trp636=)
n.1229G=
c.5409G= (p.Trp1803=)
c.1733G=
c.1920G= (p.Trp640=)
c.*5129G= (n.*5129G=)
c.2021-1478G= (n.2021-1478G=)
c.276G= (p.Trp92=)
c.819G= (p.Trp273=)
c.45G= (p.Trp15=)
n.5482G=
n.5523G=
17g.43049181C>GCA10590771BRCA1c.5343G>C (p.Trp1781Cys)
c.5346G>C (p.Trp1782Cys)
c.5220G>C (p.Trp1740Cys)
c.5340G>C (p.Trp1780Cys)
c.5268G>C (p.Trp1756Cys)
c.2034G>C (p.Trp678Cys)
c.1896G>C (p.Trp632Cys)
c.4458G>C (p.Trp1486Cys)
c.5223G>C (p.Trp1741Cys)
c.5412G>C (p.Trp1804Cys)
c.5205G>C (p.Trp1735Cys)
c.1908G>C (p.Trp636Cys)
n.1229G>C
c.5409G>C (p.Trp1803Cys)
c.1733G>C
c.1920G>C (p.Trp640Cys)
c.*5129G>C (n.*5129G>C)
c.2021-1478G>C (n.2021-1478G>C)
c.276G>C (p.Trp92Cys)
c.819G>C (p.Trp273Cys)
c.45G>C (p.Trp15Cys)
n.5482G>C
n.5523G>C
 ClinVar dbSNP
17g.43049181C>TCA003514BRCA1c.5343G>A (p.Trp1781Ter)
c.5346G>A (p.Trp1782Ter)
c.5220G>A (p.Trp1740Ter)
c.5340G>A (p.Trp1780Ter)
c.5268G>A (p.Trp1756Ter)
c.2034G>A (p.Trp678Ter)
c.1896G>A (p.Trp632Ter)
c.4458G>A (p.Trp1486Ter)
c.5223G>A (p.Trp1741Ter)
c.5412G>A (p.Trp1804Ter)
c.5205G>A (p.Trp1735Ter)
c.1908G>A (p.Trp636Ter)
n.1229G>A
c.5409G>A (p.Trp1803Ter)
c.1733G>A
c.1920G>A (p.Trp640Ter)
c.*5129G>A (n.*5129G>A)
c.2021-1478G>A (n.2021-1478G>A)
c.276G>A (p.Trp92Ter)
c.819G>A (p.Trp273Ter)
c.45G>A (p.Trp15Ter)
n.5482G>A
n.5523G>A
 ClinVar dbSNP gnomAD v4
17g.43049182C>ACA10590772BRCA1c.5342G>T (p.Trp1781Leu)
c.5345G>T (p.Trp1782Leu)
c.5219G>T (p.Trp1740Leu)
c.5339G>T (p.Trp1780Leu)
c.5267G>T (p.Trp1756Leu)
c.2033G>T (p.Trp678Leu)
c.1895G>T (p.Trp632Leu)
c.4457G>T (p.Trp1486Leu)
c.5222G>T (p.Trp1741Leu)
c.5411G>T (p.Trp1804Leu)
c.5204G>T (p.Trp1735Leu)
c.1907G>T (p.Trp636Leu)
n.1228G>T
c.5408G>T (p.Trp1803Leu)
c.1732G>T
c.1919G>T (p.Trp640Leu)
c.*5128G>T (n.*5128G>T)
c.2021-1479G>T (n.2021-1479G>T)
c.275G>T (p.Trp92Leu)
c.818G>T (p.Trp273Leu)
c.44G>T (p.Trp15Leu)
n.5481G>T
n.5522G>T
 ClinVar dbSNP
17g.43049182C=CA2260762783BRCA1c.5342G= (p.Trp1781=)
c.5345G= (p.Trp1782=)
c.5219G= (p.Trp1740=)
c.5339G= (p.Trp1780=)
c.5267G= (p.Trp1756=)
c.2033G= (p.Trp678=)
c.1895G= (p.Trp632=)
c.4457G= (p.Trp1486=)
c.5222G= (p.Trp1741=)
c.5411G= (p.Trp1804=)
c.5204G= (p.Trp1735=)
c.1907G= (p.Trp636=)
n.1228G=
c.5408G= (p.Trp1803=)
c.1732G=
c.1919G= (p.Trp640=)
c.*5128G= (n.*5128G=)
c.2021-1479G= (n.2021-1479G=)
c.275G= (p.Trp92=)
c.818G= (p.Trp273=)
c.44G= (p.Trp15=)
n.5481G=
n.5522G=
17g.43049182C>GCA10590773BRCA1c.5342G>C (p.Trp1781Ser)
c.5345G>C (p.Trp1782Ser)
c.5219G>C (p.Trp1740Ser)
c.5339G>C (p.Trp1780Ser)
c.5267G>C (p.Trp1756Ser)
c.2033G>C (p.Trp678Ser)
c.1895G>C (p.Trp632Ser)
c.4457G>C (p.Trp1486Ser)
c.5222G>C (p.Trp1741Ser)
c.5411G>C (p.Trp1804Ser)
c.5204G>C (p.Trp1735Ser)
c.1907G>C (p.Trp636Ser)
n.1228G>C
c.5408G>C (p.Trp1803Ser)
c.1732G>C
c.1919G>C (p.Trp640Ser)
c.*5128G>C (n.*5128G>C)
c.2021-1479G>C (n.2021-1479G>C)
c.275G>C (p.Trp92Ser)
c.818G>C (p.Trp273Ser)
c.44G>C (p.Trp15Ser)
n.5481G>C
n.5522G>C
 ClinVar dbSNP
17g.43049182C>TCA003512BRCA1c.5342G>A (p.Trp1781Ter)
c.5345G>A (p.Trp1782Ter)
c.5219G>A (p.Trp1740Ter)
c.5339G>A (p.Trp1780Ter)
c.5267G>A (p.Trp1756Ter)
c.2033G>A (p.Trp678Ter)
c.1895G>A (p.Trp632Ter)
c.4457G>A (p.Trp1486Ter)
c.5222G>A (p.Trp1741Ter)
c.5411G>A (p.Trp1804Ter)
c.5204G>A (p.Trp1735Ter)
c.1907G>A (p.Trp636Ter)
n.1228G>A
c.5408G>A (p.Trp1803Ter)
c.1732G>A
c.1919G>A (p.Trp640Ter)
c.*5128G>A (n.*5128G>A)
c.2021-1479G>A (n.2021-1479G>A)
c.275G>A (p.Trp92Ter)
c.818G>A (p.Trp273Ter)
c.44G>A (p.Trp15Ter)
n.5481G>A
n.5522G>A
 ClinVar dbSNP gnomAD v4
17g.43049183A=CA2260762785BRCA1c.5341T= (p.Trp1781=)
c.5344T= (p.Trp1782=)
c.5218T= (p.Trp1740=)
c.5338T= (p.Trp1780=)
c.5266T= (p.Trp1756=)
c.2032T= (p.Trp678=)
c.1894T= (p.Trp632=)
c.4456T= (p.Trp1486=)
c.5221T= (p.Trp1741=)
c.5410T= (p.Trp1804=)
c.5203T= (p.Trp1735=)
c.1906T= (p.Trp636=)
n.1227T=
c.5407T= (p.Trp1803=)
c.1731T=
c.1918T= (p.Trp640=)
c.*5127T= (n.*5127T=)
c.2021-1480T= (n.2021-1480T=)
c.274T= (p.Trp92=)
c.817T= (p.Trp273=)
c.43T= (p.Trp15=)
n.5480T=
n.5521T=
17g.43049183A>CCA10590774BRCA1c.5341T>G (p.Trp1781Gly)
c.5344T>G (p.Trp1782Gly)
c.5218T>G (p.Trp1740Gly)
c.5338T>G (p.Trp1780Gly)
c.5266T>G (p.Trp1756Gly)
c.2032T>G (p.Trp678Gly)
c.1894T>G (p.Trp632Gly)
c.4456T>G (p.Trp1486Gly)
c.5221T>G (p.Trp1741Gly)
c.5410T>G (p.Trp1804Gly)
c.5203T>G (p.Trp1735Gly)
c.1906T>G (p.Trp636Gly)
n.1227T>G
c.5407T>G (p.Trp1803Gly)
c.1731T>G
c.1918T>G (p.Trp640Gly)
c.*5127T>G (n.*5127T>G)
c.2021-1480T>G (n.2021-1480T>G)
c.274T>G (p.Trp92Gly)
c.817T>G (p.Trp273Gly)
c.43T>G (p.Trp15Gly)
n.5480T>G
n.5521T>G
 ClinVar dbSNP
17g.43049183A>GCA10590775BRCA1c.5341T>C (p.Trp1781Arg)
c.5344T>C (p.Trp1782Arg)
c.5218T>C (p.Trp1740Arg)
c.5338T>C (p.Trp1780Arg)
c.5266T>C (p.Trp1756Arg)
c.2032T>C (p.Trp678Arg)
c.1894T>C (p.Trp632Arg)
c.4456T>C (p.Trp1486Arg)
c.5221T>C (p.Trp1741Arg)
c.5410T>C (p.Trp1804Arg)
c.5203T>C (p.Trp1735Arg)
c.1906T>C (p.Trp636Arg)
n.1227T>C
c.5407T>C (p.Trp1803Arg)
c.1731T>C
c.1918T>C (p.Trp640Arg)
c.*5127T>C (n.*5127T>C)
c.2021-1480T>C (n.2021-1480T>C)
c.274T>C (p.Trp92Arg)
c.817T>C (p.Trp273Arg)
c.43T>C (p.Trp15Arg)
n.5480T>C
n.5521T>C
 ClinVar dbSNP
17g.43049183A>TCA10590776BRCA1c.5341T>A (p.Trp1781Arg)
c.5344T>A (p.Trp1782Arg)
c.5218T>A (p.Trp1740Arg)
c.5338T>A (p.Trp1780Arg)
c.5266T>A (p.Trp1756Arg)
c.2032T>A (p.Trp678Arg)
c.1894T>A (p.Trp632Arg)
c.4456T>A (p.Trp1486Arg)
c.5221T>A (p.Trp1741Arg)
c.5410T>A (p.Trp1804Arg)
c.5203T>A (p.Trp1735Arg)
c.1906T>A (p.Trp636Arg)
n.1227T>A
c.5407T>A (p.Trp1803Arg)
c.1731T>A
c.1918T>A (p.Trp640Arg)
c.*5127T>A (n.*5127T>A)
c.2021-1480T>A (n.2021-1480T>A)
c.274T>A (p.Trp92Arg)
c.817T>A (p.Trp273Arg)
c.43T>A (p.Trp15Arg)
n.5480T>A
n.5521T>A
 ClinVar dbSNP
17g.43049183_43049186delinsATTCCA2260762784BRCA1c.5338_5341delinsGAAT (p.Glu1780=)
c.5341_5344delinsGAAT (p.Glu1781=)
c.5215_5218delinsGAAT (p.Glu1739=)
c.5335_5338delinsGAAT (p.Glu1779=)
c.5263_5266delinsGAAT (p.Glu1755=)
c.2029_2032delinsGAAT (p.Glu677=)
c.1891_1894delinsGAAT (p.Glu631=)
c.4453_4456delinsGAAT (p.Glu1485=)
c.5218_5221delinsGAAT (p.Glu1740=)
c.5407_5410delinsGAAT (p.Glu1803=)
c.5200_5203delinsGAAT (p.Glu1734=)
c.1903_1906delinsGAAT (p.Glu635=)
n.1224_1227delinsGAAT
c.5404_5407delinsGAAT (p.Glu1802=)
c.1728_1731delinsGAAT
c.1915_1918delinsGAAT (p.Glu639=)
c.*5124_*5127delinsGAAT (n.*5124_*5127delinsGAAT)
c.2021-1483_2021-1480delinsGAAT (n.2021-1483_2021-1480delinsGAAT)
c.271_274delinsGAAT (p.Glu91=)
c.814_817delinsGAAT (p.Glu272=)
c.40_43delinsGAAT (p.Glu14=)
n.5477_5480delinsGAAT
n.5518_5521delinsGAAT
17g.43049184T>ACA10590777BRCA1c.5340A>T (p.Glu1780Asp)
c.5343A>T (p.Glu1781Asp)
c.5217A>T (p.Glu1739Asp)
c.5337A>T (p.Glu1779Asp)
c.5265A>T (p.Glu1755Asp)
c.2031A>T (p.Glu677Asp)
c.1893A>T (p.Glu631Asp)
c.4455A>T (p.Glu1485Asp)
c.5220A>T (p.Glu1740Asp)
c.5409A>T (p.Glu1803Asp)
c.5202A>T (p.Glu1734Asp)
c.1905A>T (p.Glu635Asp)
n.1226A>T
c.5406A>T (p.Glu1802Asp)
c.1730A>T
c.1917A>T (p.Glu639Asp)
c.*5126A>T (n.*5126A>T)
c.2021-1481A>T (n.2021-1481A>T)
c.273A>T (p.Glu91Asp)
c.816A>T (p.Glu272Asp)
c.42A>T (p.Glu14Asp)
n.5479A>T
n.5520A>T
 ClinVar dbSNP
17g.43049184T>CCA500143315BRCA1c.5340A>G (p.Glu1780=)
c.5343A>G (p.Glu1781=)
c.5217A>G (p.Glu1739=)
c.5337A>G (p.Glu1779=)
c.5265A>G (p.Glu1755=)
c.2031A>G (p.Glu677=)
c.1893A>G (p.Glu631=)
c.4455A>G (p.Glu1485=)
c.5220A>G (p.Glu1740=)
c.5409A>G (p.Glu1803=)
c.5202A>G (p.Glu1734=)
c.1905A>G (p.Glu635=)
n.1226A>G
c.5406A>G (p.Glu1802=)
c.1730A>G
c.1917A>G (p.Glu639=)
c.*5126A>G (n.*5126A>G)
c.2021-1481A>G (n.2021-1481A>G)
c.273A>G (p.Glu91=)
c.816A>G (p.Glu272=)
c.42A>G (p.Glu14=)
n.5479A>G
n.5520A>G
 ClinVar dbSNP
17g.43049184T>GCA10590778BRCA1c.5340A>C (p.Glu1780Asp)
c.5343A>C (p.Glu1781Asp)
c.5217A>C (p.Glu1739Asp)
c.5337A>C (p.Glu1779Asp)
c.5265A>C (p.Glu1755Asp)
c.2031A>C (p.Glu677Asp)
c.1893A>C (p.Glu631Asp)
c.4455A>C (p.Glu1485Asp)
c.5220A>C (p.Glu1740Asp)
c.5409A>C (p.Glu1803Asp)
c.5202A>C (p.Glu1734Asp)
c.1905A>C (p.Glu635Asp)
n.1226A>C
c.5406A>C (p.Glu1802Asp)
c.1730A>C
c.1917A>C (p.Glu639Asp)
c.*5126A>C (n.*5126A>C)
c.2021-1481A>C (n.2021-1481A>C)
c.273A>C (p.Glu91Asp)
c.816A>C (p.Glu272Asp)
c.42A>C (p.Glu14Asp)
n.5479A>C
n.5520A>C
 ClinVar dbSNP gnomAD v4
17g.43049184T=CA2260762786BRCA1c.5340A= (p.Glu1780=)
c.5343A= (p.Glu1781=)
c.5217A= (p.Glu1739=)
c.5337A= (p.Glu1779=)
c.5265A= (p.Glu1755=)
c.2031A= (p.Glu677=)
c.1893A= (p.Glu631=)
c.4455A= (p.Glu1485=)
c.5220A= (p.Glu1740=)
c.5409A= (p.Glu1803=)
c.5202A= (p.Glu1734=)
c.1905A= (p.Glu635=)
n.1226A=
c.5406A= (p.Glu1802=)
c.1730A=
c.1917A= (p.Glu639=)
c.*5126A= (n.*5126A=)
c.2021-1481A= (n.2021-1481A=)
c.273A= (p.Glu91=)
c.816A= (p.Glu272=)
c.42A= (p.Glu14=)
n.5479A=
n.5520A=
17g.43049184_43049186delinsCACA10589597BRCA1c.5338_5340delinsTG (p.Glu1780CysfsTer12)
c.5341_5343delinsTG (p.Glu1781CysfsTer12)
c.5215_5217delinsTG (p.Glu1739CysfsTer12)
c.5335_5337delinsTG (p.Glu1779CysfsTer12)
c.5263_5265delinsTG (p.Glu1755CysfsTer12)
c.2029_2031delinsTG (p.Glu677CysfsTer12)
c.1891_1893delinsTG (p.Glu631CysfsTer12)
c.4453_4455delinsTG (p.Glu1485CysfsTer12)
c.5218_5220delinsTG (p.Glu1740CysfsTer12)
c.5407_5409delinsTG (p.Glu1803CysfsTer12)
c.5200_5202delinsTG (p.Glu1734CysfsTer12)
c.1903_1905delinsTG (p.Glu635CysfsTer12)
n.1224_1226delinsTG
c.5404_5406delinsTG (p.Glu1802CysfsTer12)
c.1728_1730delinsTG
c.1915_1917delinsTG (p.Glu639CysfsTer12)
c.*5124_*5126delinsTG (n.*5124_*5126delinsTG)
c.2021-1483_2021-1481delinsTG (n.2021-1483_2021-1481delinsTG)
c.271_273delinsTG (p.Glu91CysfsTer12)
c.814_816delinsTG (p.Glu272CysfsTer12)
c.40_42delinsTG (p.Glu14CysfsTer12)
n.5477_5479delinsTG
n.5518_5520delinsTG
 ClinVar dbSNP
17g.43049185T>ACA10590779BRCA1c.5339A>T (p.Glu1780Val)
c.5342A>T (p.Glu1781Val)
c.5216A>T (p.Glu1739Val)
c.5336A>T (p.Glu1779Val)
c.5264A>T (p.Glu1755Val)
c.2030A>T (p.Glu677Val)
c.1892A>T (p.Glu631Val)
c.4454A>T (p.Glu1485Val)
c.5219A>T (p.Glu1740Val)
c.5408A>T (p.Glu1803Val)
c.5201A>T (p.Glu1734Val)
c.1904A>T (p.Glu635Val)
n.1225A>T
c.5405A>T (p.Glu1802Val)
c.1729A>T
c.1916A>T (p.Glu639Val)
c.*5125A>T (n.*5125A>T)
c.2021-1482A>T (n.2021-1482A>T)
c.272A>T (p.Glu91Val)
c.815A>T (p.Glu272Val)
c.41A>T (p.Glu14Val)
n.5478A>T
n.5519A>T
 ClinVar dbSNP
17g.43049185T>CCA10590780BRCA1c.5339A>G (p.Glu1780Gly)
c.5342A>G (p.Glu1781Gly)
c.5216A>G (p.Glu1739Gly)
c.5336A>G (p.Glu1779Gly)
c.5264A>G (p.Glu1755Gly)
c.2030A>G (p.Glu677Gly)
c.1892A>G (p.Glu631Gly)
c.4454A>G (p.Glu1485Gly)
c.5219A>G (p.Glu1740Gly)
c.5408A>G (p.Glu1803Gly)
c.5201A>G (p.Glu1734Gly)
c.1904A>G (p.Glu635Gly)
n.1225A>G
c.5405A>G (p.Glu1802Gly)
c.1729A>G
c.1916A>G (p.Glu639Gly)
c.*5125A>G (n.*5125A>G)
c.2021-1482A>G (n.2021-1482A>G)
c.272A>G (p.Glu91Gly)
c.815A>G (p.Glu272Gly)
c.41A>G (p.Glu14Gly)
n.5478A>G
n.5519A>G
17g.43049185T>GCA10590781BRCA1c.5339A>C (p.Glu1780Ala)
c.5342A>C (p.Glu1781Ala)
c.5216A>C (p.Glu1739Ala)
c.5336A>C (p.Glu1779Ala)
c.5264A>C (p.Glu1755Ala)
c.2030A>C (p.Glu677Ala)
c.1892A>C (p.Glu631Ala)
c.4454A>C (p.Glu1485Ala)
c.5219A>C (p.Glu1740Ala)
c.5408A>C (p.Glu1803Ala)
c.5201A>C (p.Glu1734Ala)
c.1904A>C (p.Glu635Ala)
n.1225A>C
c.5405A>C (p.Glu1802Ala)
c.1729A>C
c.1916A>C (p.Glu639Ala)
c.*5125A>C (n.*5125A>C)
c.2021-1482A>C (n.2021-1482A>C)
c.272A>C (p.Glu91Ala)
c.815A>C (p.Glu272Ala)
c.41A>C (p.Glu14Ala)
n.5478A>C
n.5519A>C
 ClinVar dbSNP
17g.43049185T=CA2260762788BRCA1c.5339A= (p.Glu1780=)
c.5342A= (p.Glu1781=)
c.5216A= (p.Glu1739=)
c.5336A= (p.Glu1779=)
c.5264A= (p.Glu1755=)
c.2030A= (p.Glu677=)
c.1892A= (p.Glu631=)
c.4454A= (p.Glu1485=)
c.5219A= (p.Glu1740=)
c.5408A= (p.Glu1803=)
c.5201A= (p.Glu1734=)
c.1904A= (p.Glu635=)
n.1225A=
c.5405A= (p.Glu1802=)
c.1729A=
c.1916A= (p.Glu639=)
c.*5125A= (n.*5125A=)
c.2021-1482A= (n.2021-1482A=)
c.272A= (p.Glu91=)
c.815A= (p.Glu272=)
c.41A= (p.Glu14=)
n.5478A=
n.5519A=
17g.43049185_43049186delinsTCCA2260762787BRCA1c.5338_5339delinsGA (p.Glu1780=)
c.5341_5342delinsGA (p.Glu1781=)
c.5215_5216delinsGA (p.Glu1739=)
c.5335_5336delinsGA (p.Glu1779=)
c.5263_5264delinsGA (p.Glu1755=)
c.2029_2030delinsGA (p.Glu677=)
c.1891_1892delinsGA (p.Glu631=)
c.4453_4454delinsGA (p.Glu1485=)
c.5218_5219delinsGA (p.Glu1740=)
c.5407_5408delinsGA (p.Glu1803=)
c.5200_5201delinsGA (p.Glu1734=)
c.1903_1904delinsGA (p.Glu635=)
n.1224_1225delinsGA
c.5404_5405delinsGA (p.Glu1802=)
c.1728_1729delinsGA
c.1915_1916delinsGA (p.Glu639=)
c.*5124_*5125delinsGA (n.*5124_*5125delinsGA)
c.2021-1483_2021-1482delinsGA (n.2021-1483_2021-1482delinsGA)
c.271_272delinsGA (p.Glu91=)
c.814_815delinsGA (p.Glu272=)
c.40_41delinsGA (p.Glu14=)
n.5477_5478delinsGA
n.5518_5519delinsGA
17g.43049186C>ACA003511BRCA1c.5338G>T (p.Glu1780Ter)
c.5341G>T (p.Glu1781Ter)
c.5215G>T (p.Glu1739Ter)
c.5335G>T (p.Glu1779Ter)
c.5263G>T (p.Glu1755Ter)
c.2029G>T (p.Glu677Ter)
c.1891G>T (p.Glu631Ter)
c.4453G>T (p.Glu1485Ter)
c.5218G>T (p.Glu1740Ter)
c.5407G>T (p.Glu1803Ter)
c.5200G>T (p.Glu1734Ter)
c.1903G>T (p.Glu635Ter)
n.1224G>T
c.5404G>T (p.Glu1802Ter)
c.1728G>T
c.1915G>T (p.Glu639Ter)
c.*5124G>T (n.*5124G>T)
c.2021-1483G>T (n.2021-1483G>T)
c.271G>T (p.Glu91Ter)
c.814G>T (p.Glu272Ter)
c.40G>T (p.Glu14Ter)
n.5477G>T
n.5518G>T
 ClinVar dbSNP
17g.43049186C=CA2260762789BRCA1c.5338G= (p.Glu1780=)
c.5341G= (p.Glu1781=)
c.5215G= (p.Glu1739=)
c.5335G= (p.Glu1779=)
c.5263G= (p.Glu1755=)
c.2029G= (p.Glu677=)
c.1891G= (p.Glu631=)
c.4453G= (p.Glu1485=)
c.5218G= (p.Glu1740=)
c.5407G= (p.Glu1803=)
c.5200G= (p.Glu1734=)
c.1903G= (p.Glu635=)
n.1224G=
c.5404G= (p.Glu1802=)
c.1728G=
c.1915G= (p.Glu639=)
c.*5124G= (n.*5124G=)
c.2021-1483G= (n.2021-1483G=)
c.271G= (p.Glu91=)
c.814G= (p.Glu272=)
c.40G= (p.Glu14=)
n.5477G=
n.5518G=
17g.43049186C>GCA10590782BRCA1c.5338G>C (p.Glu1780Gln)
c.5341G>C (p.Glu1781Gln)
c.5215G>C (p.Glu1739Gln)
c.5335G>C (p.Glu1779Gln)
c.5263G>C (p.Glu1755Gln)
c.2029G>C (p.Glu677Gln)
c.1891G>C (p.Glu631Gln)
c.4453G>C (p.Glu1485Gln)
c.5218G>C (p.Glu1740Gln)
c.5407G>C (p.Glu1803Gln)
c.5200G>C (p.Glu1734Gln)
c.1903G>C (p.Glu635Gln)
n.1224G>C
c.5404G>C (p.Glu1802Gln)
c.1728G>C
c.1915G>C (p.Glu639Gln)
c.*5124G>C (n.*5124G>C)
c.2021-1483G>C (n.2021-1483G>C)
c.271G>C (p.Glu91Gln)
c.814G>C (p.Glu272Gln)
c.40G>C (p.Glu14Gln)
n.5477G>C
n.5518G>C
 ClinVar dbSNP
17g.43049186C>TCA10590783BRCA1c.5338G>A (p.Glu1780Lys)
c.5341G>A (p.Glu1781Lys)
c.5215G>A (p.Glu1739Lys)
c.5335G>A (p.Glu1779Lys)
c.5263G>A (p.Glu1755Lys)
c.2029G>A (p.Glu677Lys)
c.1891G>A (p.Glu631Lys)
c.4453G>A (p.Glu1485Lys)
c.5218G>A (p.Glu1740Lys)
c.5407G>A (p.Glu1803Lys)
c.5200G>A (p.Glu1734Lys)
c.1903G>A (p.Glu635Lys)
n.1224G>A
c.5404G>A (p.Glu1802Lys)
c.1728G>A
c.1915G>A (p.Glu639Lys)
c.*5124G>A (n.*5124G>A)
c.2021-1483G>A (n.2021-1483G>A)
c.271G>A (p.Glu91Lys)
c.814G>A (p.Glu272Lys)
c.40G>A (p.Glu14Lys)
n.5477G>A
n.5518G>A
 ClinVar dbSNP
17g.43049187delCA003510BRCA1c.5338del (p.Glu1780AsnfsTer12)
c.5341del (p.Glu1781AsnfsTer12)
c.5215del (p.Glu1739AsnfsTer12)
c.5335del (p.Glu1779AsnfsTer12)
c.5263del (p.Glu1755AsnfsTer12)
c.2029del (p.Glu677AsnfsTer12)
c.1891del (p.Glu631AsnfsTer12)
c.4453del (p.Glu1485AsnfsTer12)
c.5218del (p.Glu1740AsnfsTer12)
c.5407del (p.Glu1803AsnfsTer12)
c.5200del (p.Glu1734AsnfsTer12)
c.1903del (p.Glu635AsnfsTer12)
n.1224del
c.5404del (p.Glu1802AsnfsTer12)
c.1728del
c.1915del (p.Glu639AsnfsTer12)
c.*5124del (n.*5124del)
c.2021-1483del (n.2021-1483del)
c.271del (p.Glu91AsnfsTer12)
c.814del (p.Glu272AsnfsTer12)
c.40del (p.Glu14AsnfsTer12)
n.5477del
n.5518del
 ClinVar dbSNP
17g.43049187C>ACA500143316BRCA1c.5337G>T (p.Leu1779=)
c.5340G>T (p.Leu1780=)
c.5214G>T (p.Leu1738=)
c.5334G>T (p.Leu1778=)
c.5262G>T (p.Leu1754=)
c.2028G>T (p.Leu676=)
c.1890G>T (p.Leu630=)
c.4452G>T (p.Leu1484=)
c.5217G>T (p.Leu1739=)
c.5406G>T (p.Leu1802=)
c.5199G>T (p.Leu1733=)
c.1902G>T (p.Leu634=)
n.1223G>T
c.5403G>T (p.Leu1801=)
c.1727G>T
c.1914G>T (p.Leu638=)
c.*5123G>T (n.*5123G>T)
c.2021-1484G>T (n.2021-1484G>T)
c.270G>T (p.Leu90=)
c.813G>T (p.Leu271=)
c.39G>T (p.Leu13=)
n.5476G>T
n.5517G>T
 ClinVar dbSNP
17g.43049187C=CA2260762790BRCA1c.5337G= (p.Leu1779=)
c.5340G= (p.Leu1780=)
c.5214G= (p.Leu1738=)
c.5334G= (p.Leu1778=)
c.5262G= (p.Leu1754=)
c.2028G= (p.Leu676=)
c.1890G= (p.Leu630=)
c.4452G= (p.Leu1484=)
c.5217G= (p.Leu1739=)
c.5406G= (p.Leu1802=)
c.5199G= (p.Leu1733=)
c.1902G= (p.Leu634=)
n.1223G=
c.5403G= (p.Leu1801=)
c.1727G=
c.1914G= (p.Leu638=)
c.*5123G= (n.*5123G=)
c.2021-1484G= (n.2021-1484G=)
c.270G= (p.Leu90=)
c.813G= (p.Leu271=)
c.39G= (p.Leu13=)
n.5476G=
n.5517G=
17g.43049187C>GCA500143317BRCA1c.5337G>C (p.Leu1779=)
c.5340G>C (p.Leu1780=)
c.5214G>C (p.Leu1738=)
c.5334G>C (p.Leu1778=)
c.5262G>C (p.Leu1754=)
c.2028G>C (p.Leu676=)
c.1890G>C (p.Leu630=)
c.4452G>C (p.Leu1484=)
c.5217G>C (p.Leu1739=)
c.5406G>C (p.Leu1802=)
c.5199G>C (p.Leu1733=)
c.1902G>C (p.Leu634=)
n.1223G>C
c.5403G>C (p.Leu1801=)
c.1727G>C
c.1914G>C (p.Leu638=)
c.*5123G>C (n.*5123G>C)
c.2021-1484G>C (n.2021-1484G>C)
c.270G>C (p.Leu90=)
c.813G>C (p.Leu271=)
c.39G>C (p.Leu13=)
n.5476G>C
n.5517G>C
 dbSNP
17g.43049187C>TCA054637BRCA1c.5337G>A (p.Leu1779=)
c.5340G>A (p.Leu1780=)
c.5214G>A (p.Leu1738=)
c.5334G>A (p.Leu1778=)
c.5262G>A (p.Leu1754=)
c.2028G>A (p.Leu676=)
c.1890G>A (p.Leu630=)
c.4452G>A (p.Leu1484=)
c.5217G>A (p.Leu1739=)
c.5406G>A (p.Leu1802=)
c.5199G>A (p.Leu1733=)
c.1902G>A (p.Leu634=)
n.1223G>A
c.5403G>A (p.Leu1801=)
c.1727G>A
c.1914G>A (p.Leu638=)
c.*5123G>A (n.*5123G>A)
c.2021-1484G>A (n.2021-1484G>A)
c.270G>A (p.Leu90=)
c.813G>A (p.Leu271=)
c.39G>A (p.Leu13=)
n.5476G>A
n.5517G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049188A=CA2260762791BRCA1c.5336T= (p.Leu1779=)
c.5339T= (p.Leu1780=)
c.5213T= (p.Leu1738=)
c.5333T= (p.Leu1778=)
c.5261T= (p.Leu1754=)
c.2027T= (p.Leu676=)
c.1889T= (p.Leu630=)
c.4451T= (p.Leu1484=)
c.5216T= (p.Leu1739=)
c.5405T= (p.Leu1802=)
c.5198T= (p.Leu1733=)
c.1901T= (p.Leu634=)
n.1222T=
c.5402T= (p.Leu1801=)
c.1726T=
c.1913T= (p.Leu638=)
c.*5122T= (n.*5122T=)
c.2021-1485T= (n.2021-1485T=)
c.269T= (p.Leu90=)
c.812T= (p.Leu271=)
c.38T= (p.Leu13=)
n.5475T=
n.5516T=
17g.43049188A>CCA003509BRCA1c.5336T>G (p.Leu1779Arg)
c.5339T>G (p.Leu1780Arg)
c.5213T>G (p.Leu1738Arg)
c.5333T>G (p.Leu1778Arg)
c.5261T>G (p.Leu1754Arg)
c.2027T>G (p.Leu676Arg)
c.1889T>G (p.Leu630Arg)
c.4451T>G (p.Leu1484Arg)
c.5216T>G (p.Leu1739Arg)
c.5405T>G (p.Leu1802Arg)
c.5198T>G (p.Leu1733Arg)
c.1901T>G (p.Leu634Arg)
n.1222T>G
c.5402T>G (p.Leu1801Arg)
c.1726T>G
c.1913T>G (p.Leu638Arg)
c.*5122T>G (n.*5122T>G)
c.2021-1485T>G (n.2021-1485T>G)
c.269T>G (p.Leu90Arg)
c.812T>G (p.Leu271Arg)
c.38T>G (p.Leu13Arg)
n.5475T>G
n.5516T>G
 ClinVar dbSNP
17g.43049188A>GCA003508BRCA1c.5336T>C (p.Leu1779Pro)
c.5339T>C (p.Leu1780Pro)
c.5213T>C (p.Leu1738Pro)
c.5333T>C (p.Leu1778Pro)
c.5261T>C (p.Leu1754Pro)
c.2027T>C (p.Leu676Pro)
c.1889T>C (p.Leu630Pro)
c.4451T>C (p.Leu1484Pro)
c.5216T>C (p.Leu1739Pro)
c.5405T>C (p.Leu1802Pro)
c.5198T>C (p.Leu1733Pro)
c.1901T>C (p.Leu634Pro)
n.1222T>C
c.5402T>C (p.Leu1801Pro)
c.1726T>C
c.1913T>C (p.Leu638Pro)
c.*5122T>C (n.*5122T>C)
c.2021-1485T>C (n.2021-1485T>C)
c.269T>C (p.Leu90Pro)
c.812T>C (p.Leu271Pro)
c.38T>C (p.Leu13Pro)
n.5475T>C
n.5516T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049188A>TCA10590784BRCA1c.5336T>A (p.Leu1779Gln)
c.5339T>A (p.Leu1780Gln)
c.5213T>A (p.Leu1738Gln)
c.5333T>A (p.Leu1778Gln)
c.5261T>A (p.Leu1754Gln)
c.2027T>A (p.Leu676Gln)
c.1889T>A (p.Leu630Gln)
c.4451T>A (p.Leu1484Gln)
c.5216T>A (p.Leu1739Gln)
c.5405T>A (p.Leu1802Gln)
c.5198T>A (p.Leu1733Gln)
c.1901T>A (p.Leu634Gln)
n.1222T>A
c.5402T>A (p.Leu1801Gln)
c.1726T>A
c.1913T>A (p.Leu638Gln)
c.*5122T>A (n.*5122T>A)
c.2021-1485T>A (n.2021-1485T>A)
c.269T>A (p.Leu90Gln)
c.812T>A (p.Leu271Gln)
c.38T>A (p.Leu13Gln)
n.5475T>A
n.5516T>A
 ClinVar dbSNP
17g.43049188_43049189delinsAGCA2260762792BRCA1c.5335_5336delinsCT (p.Leu1779=)
c.5338_5339delinsCT (p.Leu1780=)
c.5212_5213delinsCT (p.Leu1738=)
c.5332_5333delinsCT (p.Leu1778=)
c.5260_5261delinsCT (p.Leu1754=)
c.2026_2027delinsCT (p.Leu676=)
c.1888_1889delinsCT (p.Leu630=)
c.4450_4451delinsCT (p.Leu1484=)
c.5215_5216delinsCT (p.Leu1739=)
c.5404_5405delinsCT (p.Leu1802=)
c.5197_5198delinsCT (p.Leu1733=)
c.1900_1901delinsCT (p.Leu634=)
n.1221_1222delinsCT
c.5401_5402delinsCT (p.Leu1801=)
c.1725_1726delinsCT
c.1912_1913delinsCT (p.Leu638=)
c.*5121_*5122delinsCT (n.*5121_*5122delinsCT)
c.2021-1486_2021-1485delinsCT (n.2021-1486_2021-1485delinsCT)
c.268_269delinsCT (p.Leu90=)
c.811_812delinsCT (p.Leu271=)
c.37_38delinsCT (p.Leu13=)
n.5474_5475delinsCT
n.5515_5516delinsCT
17g.43049189delCA10586600BRCA1c.5335del (p.Leu1779TrpfsTer13)
c.5338del (p.Leu1780TrpfsTer13)
c.5212del (p.Leu1738TrpfsTer13)
c.5332del (p.Leu1778TrpfsTer13)
c.5260del (p.Leu1754TrpfsTer13)
c.2026del (p.Leu676TrpfsTer13)
c.1888del (p.Leu630TrpfsTer13)
c.4450del (p.Leu1484TrpfsTer13)
c.5215del (p.Leu1739TrpfsTer13)
c.5404del (p.Leu1802TrpfsTer13)
c.5197del (p.Leu1733TrpfsTer13)
c.1900del (p.Leu634TrpfsTer13)
n.1221del
c.5401del (p.Leu1801TrpfsTer13)
c.1725del
c.1912del (p.Leu638TrpfsTer13)
c.*5121del (n.*5121del)
c.2021-1486del (n.2021-1486del)
c.268del (p.Leu90TrpfsTer13)
c.811del (p.Leu271TrpfsTer13)
c.37del (p.Leu13TrpfsTer13)
n.5474del
n.5515del
 ClinVar dbSNP
17g.43049189G>ACA500143318BRCA1c.5335C>T (p.Leu1779=)
c.5338C>T (p.Leu1780=)
c.5212C>T (p.Leu1738=)
c.5332C>T (p.Leu1778=)
c.5260C>T (p.Leu1754=)
c.2026C>T (p.Leu676=)
c.1888C>T (p.Leu630=)
c.4450C>T (p.Leu1484=)
c.5215C>T (p.Leu1739=)
c.5404C>T (p.Leu1802=)
c.5197C>T (p.Leu1733=)
c.1900C>T (p.Leu634=)
n.1221C>T
c.5401C>T (p.Leu1801=)
c.1725C>T
c.1912C>T (p.Leu638=)
c.*5121C>T (n.*5121C>T)
c.2021-1486C>T (n.2021-1486C>T)
c.268C>T (p.Leu90=)
c.811C>T (p.Leu271=)
c.37C>T (p.Leu13=)
n.5474C>T
n.5515C>T
 dbSNP gnomAD v2 gnomAD v4
17g.43049189G>CCA10590785BRCA1c.5335C>G (p.Leu1779Val)
c.5338C>G (p.Leu1780Val)
c.5212C>G (p.Leu1738Val)
c.5332C>G (p.Leu1778Val)
c.5260C>G (p.Leu1754Val)
c.2026C>G (p.Leu676Val)
c.1888C>G (p.Leu630Val)
c.4450C>G (p.Leu1484Val)
c.5215C>G (p.Leu1739Val)
c.5404C>G (p.Leu1802Val)
c.5197C>G (p.Leu1733Val)
c.1900C>G (p.Leu634Val)
n.1221C>G
c.5401C>G (p.Leu1801Val)
c.1725C>G
c.1912C>G (p.Leu638Val)
c.*5121C>G (n.*5121C>G)
c.2021-1486C>G (n.2021-1486C>G)
c.268C>G (p.Leu90Val)
c.811C>G (p.Leu271Val)
c.37C>G (p.Leu13Val)
n.5474C>G
n.5515C>G
 ClinVar dbSNP
17g.43049189G=CA2260762793BRCA1c.5335C= (p.Leu1779=)
c.5338C= (p.Leu1780=)
c.5212C= (p.Leu1738=)
c.5332C= (p.Leu1778=)
c.5260C= (p.Leu1754=)
c.2026C= (p.Leu676=)
c.1888C= (p.Leu630=)
c.4450C= (p.Leu1484=)
c.5215C= (p.Leu1739=)
c.5404C= (p.Leu1802=)
c.5197C= (p.Leu1733=)
c.1900C= (p.Leu634=)
n.1221C=
c.5401C= (p.Leu1801=)
c.1725C=
c.1912C= (p.Leu638=)
c.*5121C= (n.*5121C=)
c.2021-1486C= (n.2021-1486C=)
c.268C= (p.Leu90=)
c.811C= (p.Leu271=)
c.37C= (p.Leu13=)
n.5474C=
n.5515C=
17g.43049189G>TCA10590786BRCA1c.5335C>A (p.Leu1779Met)
c.5338C>A (p.Leu1780Met)
c.5212C>A (p.Leu1738Met)
c.5332C>A (p.Leu1778Met)
c.5260C>A (p.Leu1754Met)
c.2026C>A (p.Leu676Met)
c.1888C>A (p.Leu630Met)
c.4450C>A (p.Leu1484Met)
c.5215C>A (p.Leu1739Met)
c.5404C>A (p.Leu1802Met)
c.5197C>A (p.Leu1733Met)
c.1900C>A (p.Leu634Met)
n.1221C>A
c.5401C>A (p.Leu1801Met)
c.1725C>A
c.1912C>A (p.Leu638Met)
c.*5121C>A (n.*5121C>A)
c.2021-1486C>A (n.2021-1486C>A)
c.268C>A (p.Leu90Met)
c.811C>A (p.Leu271Met)
c.37C>A (p.Leu13Met)
n.5474C>A
n.5515C>A
17g.43049190T>ACA10590787BRCA1c.5334A>T (p.Gln1778His)
c.5337A>T (p.Gln1779His)
c.5211A>T (p.Gln1737His)
c.5331A>T (p.Gln1777His)
c.5259A>T (p.Gln1753His)
c.2025A>T (p.Gln675His)
c.1887A>T (p.Gln629His)
c.4449A>T (p.Gln1483His)
c.5214A>T (p.Gln1738His)
c.5403A>T (p.Gln1801His)
c.5196A>T (p.Gln1732His)
c.1899A>T (p.Gln633His)
n.1220A>T
c.5400A>T (p.Gln1800His)
c.1724A>T
c.1911A>T (p.Gln637His)
c.*5120A>T (n.*5120A>T)
c.2021-1487A>T (n.2021-1487A>T)
c.267A>T (p.Gln89His)
c.810A>T (p.Gln270His)
c.36A>T (p.Gln12His)
n.5473A>T
n.5514A>T
 ClinVar dbSNP
17g.43049190T>CCA10580486BRCA1c.5334A>G (p.Gln1778=)
c.5337A>G (p.Gln1779=)
c.5211A>G (p.Gln1737=)
c.5331A>G (p.Gln1777=)
c.5259A>G (p.Gln1753=)
c.2025A>G (p.Gln675=)
c.1887A>G (p.Gln629=)
c.4449A>G (p.Gln1483=)
c.5214A>G (p.Gln1738=)
c.5403A>G (p.Gln1801=)
c.5196A>G (p.Gln1732=)
c.1899A>G (p.Gln633=)
n.1220A>G
c.5400A>G (p.Gln1800=)
c.1724A>G
c.1911A>G (p.Gln637=)
c.*5120A>G (n.*5120A>G)
c.2021-1487A>G (n.2021-1487A>G)
c.267A>G (p.Gln89=)
c.810A>G (p.Gln270=)
c.36A>G (p.Gln12=)
n.5473A>G
n.5514A>G
 ClinVar dbSNP gnomAD v4
17g.43049190T>GCA10590788BRCA1c.5334A>C (p.Gln1778His)
c.5337A>C (p.Gln1779His)
c.5211A>C (p.Gln1737His)
c.5331A>C (p.Gln1777His)
c.5259A>C (p.Gln1753His)
c.2025A>C (p.Gln675His)
c.1887A>C (p.Gln629His)
c.4449A>C (p.Gln1483His)
c.5214A>C (p.Gln1738His)
c.5403A>C (p.Gln1801His)
c.5196A>C (p.Gln1732His)
c.1899A>C (p.Gln633His)
n.1220A>C
c.5400A>C (p.Gln1800His)
c.1724A>C
c.1911A>C (p.Gln637His)
c.*5120A>C (n.*5120A>C)
c.2021-1487A>C (n.2021-1487A>C)
c.267A>C (p.Gln89His)
c.810A>C (p.Gln270His)
c.36A>C (p.Gln12His)
n.5473A>C
n.5514A>C
 ClinVar dbSNP
17g.43049190T=CA2260762794BRCA1c.5334A= (p.Gln1778=)
c.5337A= (p.Gln1779=)
c.5211A= (p.Gln1737=)
c.5331A= (p.Gln1777=)
c.5259A= (p.Gln1753=)
c.2025A= (p.Gln675=)
c.1887A= (p.Gln629=)
c.4449A= (p.Gln1483=)
c.5214A= (p.Gln1738=)
c.5403A= (p.Gln1801=)
c.5196A= (p.Gln1732=)
c.1899A= (p.Gln633=)
n.1220A=
c.5400A= (p.Gln1800=)
c.1724A=
c.1911A= (p.Gln637=)
c.*5120A= (n.*5120A=)
c.2021-1487A= (n.2021-1487A=)
c.267A= (p.Gln89=)
c.810A= (p.Gln270=)
c.36A= (p.Gln12=)
n.5473A=
n.5514A=
17g.43049191T>ACA10590789BRCA1c.5333A>T (p.Gln1778Leu)
c.5336A>T (p.Gln1779Leu)
c.5210A>T (p.Gln1737Leu)
c.5330A>T (p.Gln1777Leu)
c.5258A>T (p.Gln1753Leu)
c.2024A>T (p.Gln675Leu)
c.1886A>T (p.Gln629Leu)
c.4448A>T (p.Gln1483Leu)
c.5213A>T (p.Gln1738Leu)
c.5402A>T (p.Gln1801Leu)
c.5195A>T (p.Gln1732Leu)
c.1898A>T (p.Gln633Leu)
n.1219A>T
c.5399A>T (p.Gln1800Leu)
c.1723A>T
c.1910A>T (p.Gln637Leu)
c.*5119A>T (n.*5119A>T)
c.2021-1488A>T (n.2021-1488A>T)
c.266A>T (p.Gln89Leu)
c.809A>T (p.Gln270Leu)
c.35A>T (p.Gln12Leu)
n.5472A>T
n.5513A>T
 ClinVar dbSNP
17g.43049191T>CCA10590790BRCA1c.5333A>G (p.Gln1778Arg)
c.5336A>G (p.Gln1779Arg)
c.5210A>G (p.Gln1737Arg)
c.5330A>G (p.Gln1777Arg)
c.5258A>G (p.Gln1753Arg)
c.2024A>G (p.Gln675Arg)
c.1886A>G (p.Gln629Arg)
c.4448A>G (p.Gln1483Arg)
c.5213A>G (p.Gln1738Arg)
c.5402A>G (p.Gln1801Arg)
c.5195A>G (p.Gln1732Arg)
c.1898A>G (p.Gln633Arg)
n.1219A>G
c.5399A>G (p.Gln1800Arg)
c.1723A>G
c.1910A>G (p.Gln637Arg)
c.*5119A>G (n.*5119A>G)
c.2021-1488A>G (n.2021-1488A>G)
c.266A>G (p.Gln89Arg)
c.809A>G (p.Gln270Arg)
c.35A>G (p.Gln12Arg)
n.5472A>G
n.5513A>G
 ClinVar dbSNP
17g.43049191T>GCA10590791BRCA1c.5333A>C (p.Gln1778Pro)
c.5336A>C (p.Gln1779Pro)
c.5210A>C (p.Gln1737Pro)
c.5330A>C (p.Gln1777Pro)
c.5258A>C (p.Gln1753Pro)
c.2024A>C (p.Gln675Pro)
c.1886A>C (p.Gln629Pro)
c.4448A>C (p.Gln1483Pro)
c.5213A>C (p.Gln1738Pro)
c.5402A>C (p.Gln1801Pro)
c.5195A>C (p.Gln1732Pro)
c.1898A>C (p.Gln633Pro)
n.1219A>C
c.5399A>C (p.Gln1800Pro)
c.1723A>C
c.1910A>C (p.Gln637Pro)
c.*5119A>C (n.*5119A>C)
c.2021-1488A>C (n.2021-1488A>C)
c.266A>C (p.Gln89Pro)
c.809A>C (p.Gln270Pro)
c.35A>C (p.Gln12Pro)
n.5472A>C
n.5513A>C
 ClinVar dbSNP
17g.43049191T=CA2260762796BRCA1c.5333A= (p.Gln1778=)
c.5336A= (p.Gln1779=)
c.5210A= (p.Gln1737=)
c.5330A= (p.Gln1777=)
c.5258A= (p.Gln1753=)
c.2024A= (p.Gln675=)
c.1886A= (p.Gln629=)
c.4448A= (p.Gln1483=)
c.5213A= (p.Gln1738=)
c.5402A= (p.Gln1801=)
c.5195A= (p.Gln1732=)
c.1898A= (p.Gln633=)
n.1219A=
c.5399A= (p.Gln1800=)
c.1723A=
c.1910A= (p.Gln637=)
c.*5119A= (n.*5119A=)
c.2021-1488A= (n.2021-1488A=)
c.266A= (p.Gln89=)
c.809A= (p.Gln270=)
c.35A= (p.Gln12=)
n.5472A=
n.5513A=
17g.43049191_43049192delinsTGCA2260762795BRCA1c.5332_5333delinsCA (p.Gln1778=)
c.5335_5336delinsCA (p.Gln1779=)
c.5209_5210delinsCA (p.Gln1737=)
c.5329_5330delinsCA (p.Gln1777=)
c.5257_5258delinsCA (p.Gln1753=)
c.2023_2024delinsCA (p.Gln675=)
c.1885_1886delinsCA (p.Gln629=)
c.4447_4448delinsCA (p.Gln1483=)
c.5212_5213delinsCA (p.Gln1738=)
c.5401_5402delinsCA (p.Gln1801=)
c.5194_5195delinsCA (p.Gln1732=)
c.1897_1898delinsCA (p.Gln633=)
n.1218_1219delinsCA
c.5398_5399delinsCA (p.Gln1800=)
c.1722_1723delinsCA
c.1909_1910delinsCA (p.Gln637=)
c.*5118_*5119delinsCA (n.*5118_*5119delinsCA)
c.2021-1489_2021-1488delinsCA (n.2021-1489_2021-1488delinsCA)
c.265_266delinsCA (p.Gln89=)
c.808_809delinsCA (p.Gln270=)
c.34_35delinsCA (p.Gln12=)
n.5471_5472delinsCA
n.5512_5513delinsCA
17g.43049192delCA003507BRCA1c.5332del (p.Gln1778AsnfsTer14)
c.5335del (p.Gln1779AsnfsTer14)
c.5209del (p.Gln1737AsnfsTer14)
c.5329del (p.Gln1777AsnfsTer14)
c.5257del (p.Gln1753AsnfsTer14)
c.2023del (p.Gln675AsnfsTer14)
c.1885del (p.Gln629AsnfsTer14)
c.4447del (p.Gln1483AsnfsTer14)
c.5212del (p.Gln1738AsnfsTer14)
c.5401del (p.Gln1801AsnfsTer14)
c.5194del (p.Gln1732AsnfsTer14)
c.1897del (p.Gln633AsnfsTer14)
n.1218del
c.5398del (p.Gln1800AsnfsTer14)
c.1722del
c.1909del (p.Gln637AsnfsTer14)
c.*5118del (n.*5118del)
c.2021-1489del (n.2021-1489del)
c.265del (p.Gln89AsnfsTer14)
c.808del (p.Gln270AsnfsTer14)
c.34del (p.Gln12AsnfsTer14)
n.5471del
n.5512del
 ClinVar dbSNP ExAC
17g.43049192G>ACA003506BRCA1c.5332C>T (p.Gln1778Ter)
c.5335C>T (p.Gln1779Ter)
c.5209C>T (p.Gln1737Ter)
c.5329C>T (p.Gln1777Ter)
c.5257C>T (p.Gln1753Ter)
c.2023C>T (p.Gln675Ter)
c.1885C>T (p.Gln629Ter)
c.4447C>T (p.Gln1483Ter)
c.5212C>T (p.Gln1738Ter)
c.5401C>T (p.Gln1801Ter)
c.5194C>T (p.Gln1732Ter)
c.1897C>T (p.Gln633Ter)
n.1218C>T
c.5398C>T (p.Gln1800Ter)
c.1722C>T
c.1909C>T (p.Gln637Ter)
c.*5118C>T (n.*5118C>T)
c.2021-1489C>T (n.2021-1489C>T)
c.265C>T (p.Gln89Ter)
c.808C>T (p.Gln270Ter)
c.34C>T (p.Gln12Ter)
n.5471C>T
n.5512C>T
 ClinVar dbSNP gnomAD v4
17g.43049192G>CCA10590792BRCA1c.5332C>G (p.Gln1778Glu)
c.5335C>G (p.Gln1779Glu)
c.5209C>G (p.Gln1737Glu)
c.5329C>G (p.Gln1777Glu)
c.5257C>G (p.Gln1753Glu)
c.2023C>G (p.Gln675Glu)
c.1885C>G (p.Gln629Glu)
c.4447C>G (p.Gln1483Glu)
c.5212C>G (p.Gln1738Glu)
c.5401C>G (p.Gln1801Glu)
c.5194C>G (p.Gln1732Glu)
c.1897C>G (p.Gln633Glu)
n.1218C>G
c.5398C>G (p.Gln1800Glu)
c.1722C>G
c.1909C>G (p.Gln637Glu)
c.*5118C>G (n.*5118C>G)
c.2021-1489C>G (n.2021-1489C>G)
c.265C>G (p.Gln89Glu)
c.808C>G (p.Gln270Glu)
c.34C>G (p.Gln12Glu)
n.5471C>G
n.5512C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43049192G=CA2260762797BRCA1c.5332C= (p.Gln1778=)
c.5335C= (p.Gln1779=)
c.5209C= (p.Gln1737=)
c.5329C= (p.Gln1777=)
c.5257C= (p.Gln1753=)
c.2023C= (p.Gln675=)
c.1885C= (p.Gln629=)
c.4447C= (p.Gln1483=)
c.5212C= (p.Gln1738=)
c.5401C= (p.Gln1801=)
c.5194C= (p.Gln1732=)
c.1897C= (p.Gln633=)
n.1218C=
c.5398C= (p.Gln1800=)
c.1722C=
c.1909C= (p.Gln637=)
c.*5118C= (n.*5118C=)
c.2021-1489C= (n.2021-1489C=)
c.265C= (p.Gln89=)
c.808C= (p.Gln270=)
c.34C= (p.Gln12=)
n.5471C=
n.5512C=
17g.43049192G>TCA10590793BRCA1c.5332C>A (p.Gln1778Lys)
c.5335C>A (p.Gln1779Lys)
c.5209C>A (p.Gln1737Lys)
c.5329C>A (p.Gln1777Lys)
c.5257C>A (p.Gln1753Lys)
c.2023C>A (p.Gln675Lys)
c.1885C>A (p.Gln629Lys)
c.4447C>A (p.Gln1483Lys)
c.5212C>A (p.Gln1738Lys)
c.5401C>A (p.Gln1801Lys)
c.5194C>A (p.Gln1732Lys)
c.1897C>A (p.Gln633Lys)
n.1218C>A
c.5398C>A (p.Gln1800Lys)
c.1722C>A
c.1909C>A (p.Gln637Lys)
c.*5118C>A (n.*5118C>A)
c.2021-1489C>A (n.2021-1489C>A)
c.265C>A (p.Gln89Lys)
c.808C>A (p.Gln270Lys)
c.34C>A (p.Gln12Lys)
n.5471C>A
n.5512C>A
 ClinVar dbSNP
17g.43049193A=CA2260762798BRCA1c.5331T= (p.Asp1777=)
c.5334T= (p.Asp1778=)
c.5208T= (p.Asp1736=)
c.5328T= (p.Asp1776=)
c.5256T= (p.Asp1752=)
c.2022T= (p.Asp674=)
c.1884T= (p.Asp628=)
c.4446T= (p.Asp1482=)
c.5211T= (p.Asp1737=)
c.5400T= (p.Asp1800=)
c.5193T= (p.Asp1731=)
c.1896T= (p.Asp632=)
n.1217T=
c.5397T= (p.Asp1799=)
c.1721T=
c.1908T= (p.Asp636=)
c.*5117T= (n.*5117T=)
c.2021-1490T= (n.2021-1490T=)
c.264T= (p.Asp88=)
c.807T= (p.Asp269=)
c.33T= (p.Tyr11=)
n.5470T=
n.5511T=
17g.43049193A>CCA10590794BRCA1c.5331T>G (p.Asp1777Glu)
c.5334T>G (p.Asp1778Glu)
c.5208T>G (p.Asp1736Glu)
c.5328T>G (p.Asp1776Glu)
c.5256T>G (p.Asp1752Glu)
c.2022T>G (p.Asp674Glu)
c.1884T>G (p.Asp628Glu)
c.4446T>G (p.Asp1482Glu)
c.5211T>G (p.Asp1737Glu)
c.5400T>G (p.Asp1800Glu)
c.5193T>G (p.Asp1731Glu)
c.1896T>G (p.Asp632Glu)
n.1217T>G
c.5397T>G (p.Asp1799Glu)
c.1721T>G
c.1908T>G (p.Asp636Glu)
c.*5117T>G (n.*5117T>G)
c.2021-1490T>G (n.2021-1490T>G)
c.264T>G (p.Asp88Glu)
c.807T>G (p.Asp269Glu)
c.33T>G (p.Tyr11Ter)
n.5470T>G
n.5511T>G
 ClinVar dbSNP
17g.43049193A>GCA003504BRCA1c.5331T>C (p.Asp1777=)
c.5334T>C (p.Asp1778=)
c.5208T>C (p.Asp1736=)
c.5328T>C (p.Asp1776=)
c.5256T>C (p.Asp1752=)
c.2022T>C (p.Asp674=)
c.1884T>C (p.Asp628=)
c.4446T>C (p.Asp1482=)
c.5211T>C (p.Asp1737=)
c.5400T>C (p.Asp1800=)
c.5193T>C (p.Asp1731=)
c.1896T>C (p.Asp632=)
n.1217T>C
c.5397T>C (p.Asp1799=)
c.1721T>C
c.1908T>C (p.Asp636=)
c.*5117T>C (n.*5117T>C)
c.2021-1490T>C (n.2021-1490T>C)
c.264T>C (p.Asp88=)
c.807T>C (p.Asp269=)
c.33T>C (p.Tyr11=)
n.5470T>C
n.5511T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049193A>TCA10590796BRCA1c.5331T>A (p.Asp1777Glu)
c.5334T>A (p.Asp1778Glu)
c.5208T>A (p.Asp1736Glu)
c.5328T>A (p.Asp1776Glu)
c.5256T>A (p.Asp1752Glu)
c.2022T>A (p.Asp674Glu)
c.1884T>A (p.Asp628Glu)
c.4446T>A (p.Asp1482Glu)
c.5211T>A (p.Asp1737Glu)
c.5400T>A (p.Asp1800Glu)
c.5193T>A (p.Asp1731Glu)
c.1896T>A (p.Asp632Glu)
n.1217T>A
c.5397T>A (p.Asp1799Glu)
c.1721T>A
c.1908T>A (p.Asp636Glu)
c.*5117T>A (n.*5117T>A)
c.2021-1490T>A (n.2021-1490T>A)
c.264T>A (p.Asp88Glu)
c.807T>A (p.Asp269Glu)
c.33T>A (p.Tyr11Ter)
n.5470T>A
n.5511T>A
 ClinVar dbSNP gnomAD v4
17g.43049194T>ACA10590798BRCA1c.5330A>T (p.Asp1777Val)
c.5333A>T (p.Asp1778Val)
c.5207A>T (p.Asp1736Val)
c.5327A>T (p.Asp1776Val)
c.5255A>T (p.Asp1752Val)
c.2021A>T (p.Asp674Val)
c.1883A>T (p.Asp628Val)
c.4445A>T (p.Asp1482Val)
c.5210A>T (p.Asp1737Val)
c.5399A>T (p.Asp1800Val)
c.5192A>T (p.Asp1731Val)
c.1895A>T (p.Asp632Val)
n.1216A>T
c.5396A>T (p.Asp1799Val)
c.1720A>T
c.1907A>T (p.Asp636Val)
c.*5116A>T (n.*5116A>T)
c.2021-1491A>T (n.2021-1491A>T)
c.263A>T (p.Asp88Val)
c.806A>T (p.Asp269Val)
c.32A>T (p.Tyr11Phe)
n.5469A>T
n.5510A>T
 ClinVar dbSNP
17g.43049194T>CCA003503BRCA1c.5330A>G (p.Asp1777Gly)
c.5333A>G (p.Asp1778Gly)
c.5207A>G (p.Asp1736Gly)
c.5327A>G (p.Asp1776Gly)
c.5255A>G (p.Asp1752Gly)
c.2021A>G (p.Asp674Gly)
c.1883A>G (p.Asp628Gly)
c.4445A>G (p.Asp1482Gly)
c.5210A>G (p.Asp1737Gly)
c.5399A>G (p.Asp1800Gly)
c.5192A>G (p.Asp1731Gly)
c.1895A>G (p.Asp632Gly)
n.1216A>G
c.5396A>G (p.Asp1799Gly)
c.1720A>G
c.1907A>G (p.Asp636Gly)
c.*5116A>G (n.*5116A>G)
c.2021-1491A>G (n.2021-1491A>G)
c.263A>G (p.Asp88Gly)
c.806A>G (p.Asp269Gly)
c.32A>G (p.Tyr11Cys)
n.5469A>G
n.5510A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049194T>GCA10590800BRCA1c.5330A>C (p.Asp1777Ala)
c.5333A>C (p.Asp1778Ala)
c.5207A>C (p.Asp1736Ala)
c.5327A>C (p.Asp1776Ala)
c.5255A>C (p.Asp1752Ala)
c.2021A>C (p.Asp674Ala)
c.1883A>C (p.Asp628Ala)
c.4445A>C (p.Asp1482Ala)
c.5210A>C (p.Asp1737Ala)
c.5399A>C (p.Asp1800Ala)
c.5192A>C (p.Asp1731Ala)
c.1895A>C (p.Asp632Ala)
n.1216A>C
c.5396A>C (p.Asp1799Ala)
c.1720A>C
c.1907A>C (p.Asp636Ala)
c.*5116A>C (n.*5116A>C)
c.2021-1491A>C (n.2021-1491A>C)
c.263A>C (p.Asp88Ala)
c.806A>C (p.Asp269Ala)
c.32A>C (p.Tyr11Ser)
n.5469A>C
n.5510A>C
 ClinVar dbSNP
17g.43049194T=CA2260762799BRCA1c.5330A= (p.Asp1777=)
c.5333A= (p.Asp1778=)
c.5207A= (p.Asp1736=)
c.5327A= (p.Asp1776=)
c.5255A= (p.Asp1752=)
c.2021A= (p.Asp674=)
c.1883A= (p.Asp628=)
c.4445A= (p.Asp1482=)
c.5210A= (p.Asp1737=)
c.5399A= (p.Asp1800=)
c.5192A= (p.Asp1731=)
c.1895A= (p.Asp632=)
n.1216A=
c.5396A= (p.Asp1799=)
c.1720A=
c.1907A= (p.Asp636=)
c.*5116A= (n.*5116A=)
c.2021-1491A= (n.2021-1491A=)
c.263A= (p.Asp88=)
c.806A= (p.Asp269=)
c.32A= (p.Tyr11=)
n.5469A=
n.5510A=
17g.43049195C>ACA10590802BRCA1c.5330-1G>T (n.5330-1G>T)
c.5333-1G>T (n.5333-1G>T)
c.5207-1G>T (n.5207-1G>T)
c.5327-1G>T (n.5327-1G>T)
c.5255-1G>T (n.5255-1G>T)
c.2021-1G>T (n.2021-1G>T)
c.1883-1G>T (n.1883-1G>T)
c.4445-1G>T (n.4445-1G>T)
c.5210-1G>T (n.5210-1G>T)
c.5399-1G>T (n.5399-1G>T)
c.5192-1G>T (n.5192-1G>T)
c.1895-1G>T (n.1895-1G>T)
n.1215G>T
c.5396-1G>T (n.5396-1G>T)
c.1720-1G>T
c.1907-1G>T (n.1907-1G>T)
c.*5116-1G>T (n.*5116-1G>T)
c.2021-1492G>T (n.2021-1492G>T)
c.263-1G>T (n.263-1G>T)
c.806-1G>T (n.806-1G>T)
c.32-1G>T (n.32-1G>T)
n.5469-1G>T
n.5510-1G>T
 ClinVar dbSNP COSMIC COSMIC
17g.43049195C=CA2260762800BRCA1c.5330-1G= (n.5330-1G=)
c.5333-1G= (n.5333-1G=)
c.5207-1G= (n.5207-1G=)
c.5327-1G= (n.5327-1G=)
c.5255-1G= (n.5255-1G=)
c.2021-1G= (n.2021-1G=)
c.1883-1G= (n.1883-1G=)
c.4445-1G= (n.4445-1G=)
c.5210-1G= (n.5210-1G=)
c.5399-1G= (n.5399-1G=)
c.5192-1G= (n.5192-1G=)
c.1895-1G= (n.1895-1G=)
n.1215G=
c.5396-1G= (n.5396-1G=)
c.1720-1G=
c.1907-1G= (n.1907-1G=)
c.*5116-1G= (n.*5116-1G=)
c.2021-1492G= (n.2021-1492G=)
c.263-1G= (n.263-1G=)
c.806-1G= (n.806-1G=)
c.32-1G= (n.32-1G=)
n.5469-1G=
n.5510-1G=
17g.43049195C>GCA003496BRCA1c.5330-1G>C (n.5330-1G>C)
c.5333-1G>C (n.5333-1G>C)
c.5207-1G>C (n.5207-1G>C)
c.5327-1G>C (n.5327-1G>C)
c.5255-1G>C (n.5255-1G>C)
c.2021-1G>C (n.2021-1G>C)
c.1883-1G>C (n.1883-1G>C)
c.4445-1G>C (n.4445-1G>C)
c.5210-1G>C (n.5210-1G>C)
c.5399-1G>C (n.5399-1G>C)
c.5192-1G>C (n.5192-1G>C)
c.1895-1G>C (n.1895-1G>C)
n.1215G>C
c.5396-1G>C (n.5396-1G>C)
c.1720-1G>C
c.1907-1G>C (n.1907-1G>C)
c.*5116-1G>C (n.*5116-1G>C)
c.2021-1492G>C (n.2021-1492G>C)
c.263-1G>C (n.263-1G>C)
c.806-1G>C (n.806-1G>C)
c.32-1G>C (n.32-1G>C)
n.5469-1G>C
n.5510-1G>C
 ClinVar dbSNP
17g.43049195C>TCA003494BRCA1c.5330-1G>A (n.5330-1G>A)
c.5333-1G>A (n.5333-1G>A)
c.5207-1G>A (n.5207-1G>A)
c.5327-1G>A (n.5327-1G>A)
c.5255-1G>A (n.5255-1G>A)
c.2021-1G>A (n.2021-1G>A)
c.1883-1G>A (n.1883-1G>A)
c.4445-1G>A (n.4445-1G>A)
c.5210-1G>A (n.5210-1G>A)
c.5399-1G>A (n.5399-1G>A)
c.5192-1G>A (n.5192-1G>A)
c.1895-1G>A (n.1895-1G>A)
n.1215G>A
c.5396-1G>A (n.5396-1G>A)
c.1720-1G>A
c.1907-1G>A (n.1907-1G>A)
c.*5116-1G>A (n.*5116-1G>A)
c.2021-1492G>A (n.2021-1492G>A)
c.263-1G>A (n.263-1G>A)
c.806-1G>A (n.806-1G>A)
c.32-1G>A (n.32-1G>A)
n.5469-1G>A
n.5510-1G>A
 ClinVar dbSNP
17g.43049195_43049198delinsCTAACA2260762801BRCA1c.5330-4_5330-1delinsTTAG (n.5330-4_5330-1delinsTTAG)
c.5333-4_5333-1delinsTTAG (n.5333-4_5333-1delinsTTAG)
c.5207-4_5207-1delinsTTAG (n.5207-4_5207-1delinsTTAG)
c.5327-4_5327-1delinsTTAG (n.5327-4_5327-1delinsTTAG)
c.5255-4_5255-1delinsTTAG (n.5255-4_5255-1delinsTTAG)
c.2021-4_2021-1delinsTTAG (n.2021-4_2021-1delinsTTAG)
c.1883-4_1883-1delinsTTAG (n.1883-4_1883-1delinsTTAG)
c.4445-4_4445-1delinsTTAG (n.4445-4_4445-1delinsTTAG)
c.5210-4_5210-1delinsTTAG (n.5210-4_5210-1delinsTTAG)
c.5399-4_5399-1delinsTTAG (n.5399-4_5399-1delinsTTAG)
c.5192-4_5192-1delinsTTAG (n.5192-4_5192-1delinsTTAG)
c.1895-4_1895-1delinsTTAG (n.1895-4_1895-1delinsTTAG)
n.1212_1215delinsTTAG
c.5396-4_5396-1delinsTTAG (n.5396-4_5396-1delinsTTAG)
c.1720-4_1720-1delinsTTAG
c.1907-4_1907-1delinsTTAG (n.1907-4_1907-1delinsTTAG)
c.*5116-4_*5116-1delinsTTAG (n.*5116-4_*5116-1delinsTTAG)
c.2021-1495_2021-1492delinsTTAG (n.2021-1495_2021-1492delinsTTAG)
c.263-4_263-1delinsTTAG (n.263-4_263-1delinsTTAG)
c.806-4_806-1delinsTTAG (n.806-4_806-1delinsTTAG)
c.32-4_32-1delinsTTAG (n.32-4_32-1delinsTTAG)
n.5469-4_5469-1delinsTTAG
n.5510-4_5510-1delinsTTAG
17g.43049196T>ACA003498BRCA1c.5330-2A>T (n.5330-2A>T)
c.5333-2A>T (n.5333-2A>T)
c.5207-2A>T (n.5207-2A>T)
c.5327-2A>T (n.5327-2A>T)
c.5255-2A>T (n.5255-2A>T)
c.2021-2A>T (n.2021-2A>T)
c.1883-2A>T (n.1883-2A>T)
c.4445-2A>T (n.4445-2A>T)
c.5210-2A>T (n.5210-2A>T)
c.5399-2A>T (n.5399-2A>T)
c.5192-2A>T (n.5192-2A>T)
c.1895-2A>T (n.1895-2A>T)
n.1214A>T
c.5396-2A>T (n.5396-2A>T)
c.1720-2A>T
c.1907-2A>T (n.1907-2A>T)
c.*5116-2A>T (n.*5116-2A>T)
c.2021-1493A>T (n.2021-1493A>T)
c.263-2A>T (n.263-2A>T)
c.806-2A>T (n.806-2A>T)
c.32-2A>T (n.32-2A>T)
n.5469-2A>T
n.5510-2A>T
 ClinVar dbSNP
17g.43049196T>CCA10590803BRCA1c.5330-2A>G (n.5330-2A>G)
c.5333-2A>G (n.5333-2A>G)
c.5207-2A>G (n.5207-2A>G)
c.5327-2A>G (n.5327-2A>G)
c.5255-2A>G (n.5255-2A>G)
c.2021-2A>G (n.2021-2A>G)
c.1883-2A>G (n.1883-2A>G)
c.4445-2A>G (n.4445-2A>G)
c.5210-2A>G (n.5210-2A>G)
c.5399-2A>G (n.5399-2A>G)
c.5192-2A>G (n.5192-2A>G)
c.1895-2A>G (n.1895-2A>G)
n.1214A>G
c.5396-2A>G (n.5396-2A>G)
c.1720-2A>G
c.1907-2A>G (n.1907-2A>G)
c.*5116-2A>G (n.*5116-2A>G)
c.2021-1493A>G (n.2021-1493A>G)
c.263-2A>G (n.263-2A>G)
c.806-2A>G (n.806-2A>G)
c.32-2A>G (n.32-2A>G)
n.5469-2A>G
n.5510-2A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43049196T>GCA003497BRCA1c.5330-2A>C (n.5330-2A>C)
c.5333-2A>C (n.5333-2A>C)
c.5207-2A>C (n.5207-2A>C)
c.5327-2A>C (n.5327-2A>C)
c.5255-2A>C (n.5255-2A>C)
c.2021-2A>C (n.2021-2A>C)
c.1883-2A>C (n.1883-2A>C)
c.4445-2A>C (n.4445-2A>C)
c.5210-2A>C (n.5210-2A>C)
c.5399-2A>C (n.5399-2A>C)
c.5192-2A>C (n.5192-2A>C)
c.1895-2A>C (n.1895-2A>C)
n.1214A>C
c.5396-2A>C (n.5396-2A>C)
c.1720-2A>C
c.1907-2A>C (n.1907-2A>C)
c.*5116-2A>C (n.*5116-2A>C)
c.2021-1493A>C (n.2021-1493A>C)
c.263-2A>C (n.263-2A>C)
c.806-2A>C (n.806-2A>C)
c.32-2A>C (n.32-2A>C)
n.5469-2A>C
n.5510-2A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049196T=CA2260762802BRCA1c.5330-2A= (n.5330-2A=)
c.5333-2A= (n.5333-2A=)
c.5207-2A= (n.5207-2A=)
c.5327-2A= (n.5327-2A=)
c.5255-2A= (n.5255-2A=)
c.2021-2A= (n.2021-2A=)
c.1883-2A= (n.1883-2A=)
c.4445-2A= (n.4445-2A=)
c.5210-2A= (n.5210-2A=)
c.5399-2A= (n.5399-2A=)
c.5192-2A= (n.5192-2A=)
c.1895-2A= (n.1895-2A=)
n.1214A=
c.5396-2A= (n.5396-2A=)
c.1720-2A=
c.1907-2A= (n.1907-2A=)
c.*5116-2A= (n.*5116-2A=)
c.2021-1493A= (n.2021-1493A=)
c.263-2A= (n.263-2A=)
c.806-2A= (n.806-2A=)
c.32-2A= (n.32-2A=)
n.5469-2A=
n.5510-2A=
17g.43049196_43049198delCA003500BRCA1c.5330-4_5330-2del (n.5330-4_5330-2del)
c.5333-4_5333-2del (n.5333-4_5333-2del)
c.5207-4_5207-2del (n.5207-4_5207-2del)
c.5327-4_5327-2del (n.5327-4_5327-2del)
c.5255-4_5255-2del (n.5255-4_5255-2del)
c.2021-4_2021-2del (n.2021-4_2021-2del)
c.1883-4_1883-2del (n.1883-4_1883-2del)
c.4445-4_4445-2del (n.4445-4_4445-2del)
c.5210-4_5210-2del (n.5210-4_5210-2del)
c.5399-4_5399-2del (n.5399-4_5399-2del)
c.5192-4_5192-2del (n.5192-4_5192-2del)
c.1895-4_1895-2del (n.1895-4_1895-2del)
n.1212_1214del
c.5396-4_5396-2del (n.5396-4_5396-2del)
c.1720-4_1720-2del
c.1907-4_1907-2del (n.1907-4_1907-2del)
c.*5116-4_*5116-2del (n.*5116-4_*5116-2del)
c.2021-1495_2021-1493del (n.2021-1495_2021-1493del)
c.263-4_263-2del (n.263-4_263-2del)
c.806-4_806-2del (n.806-4_806-2del)
c.32-4_32-2del (n.32-4_32-2del)
n.5469-4_5469-2del
n.5510-4_5510-2del
 ClinVar dbSNP
17g.43049197A=CA2260762803BRCA1c.5330-3T= (n.5330-3T=)
c.5333-3T= (n.5333-3T=)
c.5207-3T= (n.5207-3T=)
c.5327-3T= (n.5327-3T=)
c.5255-3T= (n.5255-3T=)
c.2021-3T= (n.2021-3T=)
c.1883-3T= (n.1883-3T=)
c.4445-3T= (n.4445-3T=)
c.5210-3T= (n.5210-3T=)
c.5399-3T= (n.5399-3T=)
c.5192-3T= (n.5192-3T=)
c.1895-3T= (n.1895-3T=)
n.1213T=
c.5396-3T= (n.5396-3T=)
c.1720-3T=
c.1907-3T= (n.1907-3T=)
c.*5116-3T= (n.*5116-3T=)
c.2021-1494T= (n.2021-1494T=)
c.263-3T= (n.263-3T=)
c.806-3T= (n.806-3T=)
c.32-3T= (n.32-3T=)
n.5469-3T=
n.5510-3T=
17g.43049197A>CCA003499BRCA1c.5330-3T>G (n.5330-3T>G)
c.5333-3T>G (n.5333-3T>G)
c.5207-3T>G (n.5207-3T>G)
c.5327-3T>G (n.5327-3T>G)
c.5255-3T>G (n.5255-3T>G)
c.2021-3T>G (n.2021-3T>G)
c.1883-3T>G (n.1883-3T>G)
c.4445-3T>G (n.4445-3T>G)
c.5210-3T>G (n.5210-3T>G)
c.5399-3T>G (n.5399-3T>G)
c.5192-3T>G (n.5192-3T>G)
c.1895-3T>G (n.1895-3T>G)
n.1213T>G
c.5396-3T>G (n.5396-3T>G)
c.1720-3T>G
c.1907-3T>G (n.1907-3T>G)
c.*5116-3T>G (n.*5116-3T>G)
c.2021-1494T>G (n.2021-1494T>G)
c.263-3T>G (n.263-3T>G)
c.806-3T>G (n.806-3T>G)
c.32-3T>G (n.32-3T>G)
n.5469-3T>G
n.5510-3T>G
 ClinVar dbSNP
17g.43049197A>GCA916080883BRCA1c.5330-3T>C (n.5330-3T>C)
c.5333-3T>C (n.5333-3T>C)
c.5207-3T>C (n.5207-3T>C)
c.5327-3T>C (n.5327-3T>C)
c.5255-3T>C (n.5255-3T>C)
c.2021-3T>C (n.2021-3T>C)
c.1883-3T>C (n.1883-3T>C)
c.4445-3T>C (n.4445-3T>C)
c.5210-3T>C (n.5210-3T>C)
c.5399-3T>C (n.5399-3T>C)
c.5192-3T>C (n.5192-3T>C)
c.1895-3T>C (n.1895-3T>C)
n.1213T>C
c.5396-3T>C (n.5396-3T>C)
c.1720-3T>C
c.1907-3T>C (n.1907-3T>C)
c.*5116-3T>C (n.*5116-3T>C)
c.2021-1494T>C (n.2021-1494T>C)
c.263-3T>C (n.263-3T>C)
c.806-3T>C (n.806-3T>C)
c.32-3T>C (n.32-3T>C)
n.5469-3T>C
n.5510-3T>C
 ClinVar dbSNP
17g.43049197A>TCA916080884BRCA1c.5330-3T>A (n.5330-3T>A)
c.5333-3T>A (n.5333-3T>A)
c.5207-3T>A (n.5207-3T>A)
c.5327-3T>A (n.5327-3T>A)
c.5255-3T>A (n.5255-3T>A)
c.2021-3T>A (n.2021-3T>A)
c.1883-3T>A (n.1883-3T>A)
c.4445-3T>A (n.4445-3T>A)
c.5210-3T>A (n.5210-3T>A)
c.5399-3T>A (n.5399-3T>A)
c.5192-3T>A (n.5192-3T>A)
c.1895-3T>A (n.1895-3T>A)
n.1213T>A
c.5396-3T>A (n.5396-3T>A)
c.1720-3T>A
c.1907-3T>A (n.1907-3T>A)
c.*5116-3T>A (n.*5116-3T>A)
c.2021-1494T>A (n.2021-1494T>A)
c.263-3T>A (n.263-3T>A)
c.806-3T>A (n.806-3T>A)
c.32-3T>A (n.32-3T>A)
n.5469-3T>A
n.5510-3T>A
 ClinVar dbSNP
17g.43049200delCA2695226113BRCA1c.5330-3del (n.5330-3del)
c.5333-3del (n.5333-3del)
c.5207-3del (n.5207-3del)
c.5327-3del (n.5327-3del)
c.5255-3del (n.5255-3del)
c.2021-3del (n.2021-3del)
c.1883-3del (n.1883-3del)
c.4445-3del (n.4445-3del)
c.5210-3del (n.5210-3del)
c.5399-3del (n.5399-3del)
c.5192-3del (n.5192-3del)
c.1895-3del (n.1895-3del)
n.1213del
c.5396-3del (n.5396-3del)
c.1720-3del
c.1907-3del (n.1907-3del)
c.*5116-3del (n.*5116-3del)
c.2021-1494del (n.2021-1494del)
c.263-3del (n.263-3del)
c.806-3del (n.806-3del)
c.32-3del (n.32-3del)
n.5469-3del
n.5510-3del
17g.43049198A=CA2260762804BRCA1c.5330-4T= (n.5330-4T=)
c.5333-4T= (n.5333-4T=)
c.5207-4T= (n.5207-4T=)
c.5327-4T= (n.5327-4T=)
c.5255-4T= (n.5255-4T=)
c.2021-4T= (n.2021-4T=)
c.1883-4T= (n.1883-4T=)
c.4445-4T= (n.4445-4T=)
c.5210-4T= (n.5210-4T=)
c.5399-4T= (n.5399-4T=)
c.5192-4T= (n.5192-4T=)
c.1895-4T= (n.1895-4T=)
n.1212T=
c.5396-4T= (n.5396-4T=)
c.1720-4T=
c.1907-4T= (n.1907-4T=)
c.*5116-4T= (n.*5116-4T=)
c.2021-1495T= (n.2021-1495T=)
c.263-4T= (n.263-4T=)
c.806-4T= (n.806-4T=)
c.32-4T= (n.32-4T=)
n.5469-4T=
n.5510-4T=
17g.43049198A>CCA916080886BRCA1c.5330-4T>G (n.5330-4T>G)
c.5333-4T>G (n.5333-4T>G)
c.5207-4T>G (n.5207-4T>G)
c.5327-4T>G (n.5327-4T>G)
c.5255-4T>G (n.5255-4T>G)
c.2021-4T>G (n.2021-4T>G)
c.1883-4T>G (n.1883-4T>G)
c.4445-4T>G (n.4445-4T>G)
c.5210-4T>G (n.5210-4T>G)
c.5399-4T>G (n.5399-4T>G)
c.5192-4T>G (n.5192-4T>G)
c.1895-4T>G (n.1895-4T>G)
n.1212T>G
c.5396-4T>G (n.5396-4T>G)
c.1720-4T>G
c.1907-4T>G (n.1907-4T>G)
c.*5116-4T>G (n.*5116-4T>G)
c.2021-1495T>G (n.2021-1495T>G)
c.263-4T>G (n.263-4T>G)
c.806-4T>G (n.806-4T>G)
c.32-4T>G (n.32-4T>G)
n.5469-4T>G
n.5510-4T>G
 ClinVar dbSNP
17g.43049198A>GCA916080885BRCA1c.5330-4T>C (n.5330-4T>C)
c.5333-4T>C (n.5333-4T>C)
c.5207-4T>C (n.5207-4T>C)
c.5327-4T>C (n.5327-4T>C)
c.5255-4T>C (n.5255-4T>C)
c.2021-4T>C (n.2021-4T>C)
c.1883-4T>C (n.1883-4T>C)
c.4445-4T>C (n.4445-4T>C)
c.5210-4T>C (n.5210-4T>C)
c.5399-4T>C (n.5399-4T>C)
c.5192-4T>C (n.5192-4T>C)
c.1895-4T>C (n.1895-4T>C)
n.1212T>C
c.5396-4T>C (n.5396-4T>C)
c.1720-4T>C
c.1907-4T>C (n.1907-4T>C)
c.*5116-4T>C (n.*5116-4T>C)
c.2021-1495T>C (n.2021-1495T>C)
c.263-4T>C (n.263-4T>C)
c.806-4T>C (n.806-4T>C)
c.32-4T>C (n.32-4T>C)
n.5469-4T>C
n.5510-4T>C
 ClinVar dbSNP
17g.43049198A>TCA916080887BRCA1c.5330-4T>A (n.5330-4T>A)
c.5333-4T>A (n.5333-4T>A)
c.5207-4T>A (n.5207-4T>A)
c.5327-4T>A (n.5327-4T>A)
c.5255-4T>A (n.5255-4T>A)
c.2021-4T>A (n.2021-4T>A)
c.1883-4T>A (n.1883-4T>A)
c.4445-4T>A (n.4445-4T>A)
c.5210-4T>A (n.5210-4T>A)
c.5399-4T>A (n.5399-4T>A)
c.5192-4T>A (n.5192-4T>A)
c.1895-4T>A (n.1895-4T>A)
n.1212T>A
c.5396-4T>A (n.5396-4T>A)
c.1720-4T>A
c.1907-4T>A (n.1907-4T>A)
c.*5116-4T>A (n.*5116-4T>A)
c.2021-1495T>A (n.2021-1495T>A)
c.263-4T>A (n.263-4T>A)
c.806-4T>A (n.806-4T>A)
c.32-4T>A (n.32-4T>A)
n.5469-4T>A
n.5510-4T>A
 ClinVar dbSNP
17g.43049199A=CA2260762805BRCA1c.5330-5T= (n.5330-5T=)
c.5333-5T= (n.5333-5T=)
c.5207-5T= (n.5207-5T=)
c.5327-5T= (n.5327-5T=)
c.5255-5T= (n.5255-5T=)
c.2021-5T= (n.2021-5T=)
c.1883-5T= (n.1883-5T=)
c.4445-5T= (n.4445-5T=)
c.5210-5T= (n.5210-5T=)
c.5399-5T= (n.5399-5T=)
c.5192-5T= (n.5192-5T=)
c.1895-5T= (n.1895-5T=)
n.1211T=
c.5396-5T= (n.5396-5T=)
c.1720-5T=
c.1907-5T= (n.1907-5T=)
c.*5116-5T= (n.*5116-5T=)
c.2021-1496T= (n.2021-1496T=)
c.263-5T= (n.263-5T=)
c.806-5T= (n.806-5T=)
c.32-5T= (n.32-5T=)
n.5469-5T=
n.5510-5T=
17g.43049199A>CCA916080888BRCA1c.5330-5T>G (n.5330-5T>G)
c.5333-5T>G (n.5333-5T>G)
c.5207-5T>G (n.5207-5T>G)
c.5327-5T>G (n.5327-5T>G)
c.5255-5T>G (n.5255-5T>G)
c.2021-5T>G (n.2021-5T>G)
c.1883-5T>G (n.1883-5T>G)
c.4445-5T>G (n.4445-5T>G)
c.5210-5T>G (n.5210-5T>G)
c.5399-5T>G (n.5399-5T>G)
c.5192-5T>G (n.5192-5T>G)
c.1895-5T>G (n.1895-5T>G)
n.1211T>G
c.5396-5T>G (n.5396-5T>G)
c.1720-5T>G
c.1907-5T>G (n.1907-5T>G)
c.*5116-5T>G (n.*5116-5T>G)
c.2021-1496T>G (n.2021-1496T>G)
c.263-5T>G (n.263-5T>G)
c.806-5T>G (n.806-5T>G)
c.32-5T>G (n.32-5T>G)
n.5469-5T>G
n.5510-5T>G
 ClinVar dbSNP
17g.43049199A>GCA645577430BRCA1c.5330-5T>C (n.5330-5T>C)
c.5333-5T>C (n.5333-5T>C)
c.5207-5T>C (n.5207-5T>C)
c.5327-5T>C (n.5327-5T>C)
c.5255-5T>C (n.5255-5T>C)
c.2021-5T>C (n.2021-5T>C)
c.1883-5T>C (n.1883-5T>C)
c.4445-5T>C (n.4445-5T>C)
c.5210-5T>C (n.5210-5T>C)
c.5399-5T>C (n.5399-5T>C)
c.5192-5T>C (n.5192-5T>C)
c.1895-5T>C (n.1895-5T>C)
n.1211T>C
c.5396-5T>C (n.5396-5T>C)
c.1720-5T>C
c.1907-5T>C (n.1907-5T>C)
c.*5116-5T>C (n.*5116-5T>C)
c.2021-1496T>C (n.2021-1496T>C)
c.263-5T>C (n.263-5T>C)
c.806-5T>C (n.806-5T>C)
c.32-5T>C (n.32-5T>C)
n.5469-5T>C
n.5510-5T>C
 ClinVar dbSNP COSMIC COSMIC
17g.43049199A>TCA916080889BRCA1c.5330-5T>A (n.5330-5T>A)
c.5333-5T>A (n.5333-5T>A)
c.5207-5T>A (n.5207-5T>A)
c.5327-5T>A (n.5327-5T>A)
c.5255-5T>A (n.5255-5T>A)
c.2021-5T>A (n.2021-5T>A)
c.1883-5T>A (n.1883-5T>A)
c.4445-5T>A (n.4445-5T>A)
c.5210-5T>A (n.5210-5T>A)
c.5399-5T>A (n.5399-5T>A)
c.5192-5T>A (n.5192-5T>A)
c.1895-5T>A (n.1895-5T>A)
n.1211T>A
c.5396-5T>A (n.5396-5T>A)
c.1720-5T>A
c.1907-5T>A (n.1907-5T>A)
c.*5116-5T>A (n.*5116-5T>A)
c.2021-1496T>A (n.2021-1496T>A)
c.263-5T>A (n.263-5T>A)
c.806-5T>A (n.806-5T>A)
c.32-5T>A (n.32-5T>A)
n.5469-5T>A
n.5510-5T>A
 ClinVar dbSNP
17g.43049200A=CA2260762806BRCA1c.5330-6T= (n.5330-6T=)
c.5333-6T= (n.5333-6T=)
c.5207-6T= (n.5207-6T=)
c.5327-6T= (n.5327-6T=)
c.5255-6T= (n.5255-6T=)
c.2021-6T= (n.2021-6T=)
c.1883-6T= (n.1883-6T=)
c.4445-6T= (n.4445-6T=)
c.5210-6T= (n.5210-6T=)
c.5399-6T= (n.5399-6T=)
c.5192-6T= (n.5192-6T=)
c.1895-6T= (n.1895-6T=)
n.1210T=
c.5396-6T= (n.5396-6T=)
c.1720-6T=
c.1907-6T= (n.1907-6T=)
c.*5116-6T= (n.*5116-6T=)
c.2021-1497T= (n.2021-1497T=)
c.263-6T= (n.263-6T=)
c.806-6T= (n.806-6T=)
c.32-6T= (n.32-6T=)
n.5469-6T=
n.5510-6T=
17g.43049200A>CCA003501BRCA1c.5330-6T>G (n.5330-6T>G)
c.5333-6T>G (n.5333-6T>G)
c.5207-6T>G (n.5207-6T>G)
c.5327-6T>G (n.5327-6T>G)
c.5255-6T>G (n.5255-6T>G)
c.2021-6T>G (n.2021-6T>G)
c.1883-6T>G (n.1883-6T>G)
c.4445-6T>G (n.4445-6T>G)
c.5210-6T>G (n.5210-6T>G)
c.5399-6T>G (n.5399-6T>G)
c.5192-6T>G (n.5192-6T>G)
c.1895-6T>G (n.1895-6T>G)
n.1210T>G
c.5396-6T>G (n.5396-6T>G)
c.1720-6T>G
c.1907-6T>G (n.1907-6T>G)
c.*5116-6T>G (n.*5116-6T>G)
c.2021-1497T>G (n.2021-1497T>G)
c.263-6T>G (n.263-6T>G)
c.806-6T>G (n.806-6T>G)
c.32-6T>G (n.32-6T>G)
n.5469-6T>G
n.5510-6T>G
 ClinVar dbSNP
17g.43049200A>GCA626076631BRCA1c.5330-6T>C (n.5330-6T>C)
c.5333-6T>C (n.5333-6T>C)
c.5207-6T>C (n.5207-6T>C)
c.5327-6T>C (n.5327-6T>C)
c.5255-6T>C (n.5255-6T>C)
c.2021-6T>C (n.2021-6T>C)
c.1883-6T>C (n.1883-6T>C)
c.4445-6T>C (n.4445-6T>C)
c.5210-6T>C (n.5210-6T>C)
c.5399-6T>C (n.5399-6T>C)
c.5192-6T>C (n.5192-6T>C)
c.1895-6T>C (n.1895-6T>C)
n.1210T>C
c.5396-6T>C (n.5396-6T>C)
c.1720-6T>C
c.1907-6T>C (n.1907-6T>C)
c.*5116-6T>C (n.*5116-6T>C)
c.2021-1497T>C (n.2021-1497T>C)
c.263-6T>C (n.263-6T>C)
c.806-6T>C (n.806-6T>C)
c.32-6T>C (n.32-6T>C)
n.5469-6T>C
n.5510-6T>C
 ClinVar dbSNP gnomAD v2
17g.43049200A>TCA916080890BRCA1c.5330-6T>A (n.5330-6T>A)
c.5333-6T>A (n.5333-6T>A)
c.5207-6T>A (n.5207-6T>A)
c.5327-6T>A (n.5327-6T>A)
c.5255-6T>A (n.5255-6T>A)
c.2021-6T>A (n.2021-6T>A)
c.1883-6T>A (n.1883-6T>A)
c.4445-6T>A (n.4445-6T>A)
c.5210-6T>A (n.5210-6T>A)
c.5399-6T>A (n.5399-6T>A)
c.5192-6T>A (n.5192-6T>A)
c.1895-6T>A (n.1895-6T>A)
n.1210T>A
c.5396-6T>A (n.5396-6T>A)
c.1720-6T>A
c.1907-6T>A (n.1907-6T>A)
c.*5116-6T>A (n.*5116-6T>A)
c.2021-1497T>A (n.2021-1497T>A)
c.263-6T>A (n.263-6T>A)
c.806-6T>A (n.806-6T>A)
c.32-6T>A (n.32-6T>A)
n.5469-6T>A
n.5510-6T>A
 ClinVar dbSNP
17g.43049201T>ACA916080891BRCA1c.5330-7A>T (n.5330-7A>T)
c.5333-7A>T (n.5333-7A>T)
c.5207-7A>T (n.5207-7A>T)
c.5327-7A>T (n.5327-7A>T)
c.5255-7A>T (n.5255-7A>T)
c.2021-7A>T (n.2021-7A>T)
c.1883-7A>T (n.1883-7A>T)
c.4445-7A>T (n.4445-7A>T)
c.5210-7A>T (n.5210-7A>T)
c.5399-7A>T (n.5399-7A>T)
c.5192-7A>T (n.5192-7A>T)
c.1895-7A>T (n.1895-7A>T)
n.1209A>T
c.5396-7A>T (n.5396-7A>T)
c.1720-7A>T
c.1907-7A>T (n.1907-7A>T)
c.*5116-7A>T (n.*5116-7A>T)
c.2021-1498A>T (n.2021-1498A>T)
c.263-7A>T (n.263-7A>T)
c.806-7A>T (n.806-7A>T)
c.32-7A>T (n.32-7A>T)
n.5469-7A>T
n.5510-7A>T
 ClinVar dbSNP
17g.43049201T>CCA054601BRCA1c.5330-7A>G (n.5330-7A>G)
c.5333-7A>G (n.5333-7A>G)
c.5207-7A>G (n.5207-7A>G)
c.5327-7A>G (n.5327-7A>G)
c.5255-7A>G (n.5255-7A>G)
c.2021-7A>G (n.2021-7A>G)
c.1883-7A>G (n.1883-7A>G)
c.4445-7A>G (n.4445-7A>G)
c.5210-7A>G (n.5210-7A>G)
c.5399-7A>G (n.5399-7A>G)
c.5192-7A>G (n.5192-7A>G)
c.1895-7A>G (n.1895-7A>G)
n.1209A>G
c.5396-7A>G (n.5396-7A>G)
c.1720-7A>G
c.1907-7A>G (n.1907-7A>G)
c.*5116-7A>G (n.*5116-7A>G)
c.2021-1498A>G (n.2021-1498A>G)
c.263-7A>G (n.263-7A>G)
c.806-7A>G (n.806-7A>G)
c.32-7A>G (n.32-7A>G)
n.5469-7A>G
n.5510-7A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049201T>GCA916080892BRCA1c.5330-7A>C (n.5330-7A>C)
c.5333-7A>C (n.5333-7A>C)
c.5207-7A>C (n.5207-7A>C)
c.5327-7A>C (n.5327-7A>C)
c.5255-7A>C (n.5255-7A>C)
c.2021-7A>C (n.2021-7A>C)
c.1883-7A>C (n.1883-7A>C)
c.4445-7A>C (n.4445-7A>C)
c.5210-7A>C (n.5210-7A>C)
c.5399-7A>C (n.5399-7A>C)
c.5192-7A>C (n.5192-7A>C)
c.1895-7A>C (n.1895-7A>C)
n.1209A>C
c.5396-7A>C (n.5396-7A>C)
c.1720-7A>C
c.1907-7A>C (n.1907-7A>C)
c.*5116-7A>C (n.*5116-7A>C)
c.2021-1498A>C (n.2021-1498A>C)
c.263-7A>C (n.263-7A>C)
c.806-7A>C (n.806-7A>C)
c.32-7A>C (n.32-7A>C)
n.5469-7A>C
n.5510-7A>C
 ClinVar dbSNP
17g.43049201T=CA2260762807BRCA1c.5330-7A= (n.5330-7A=)
c.5333-7A= (n.5333-7A=)
c.5207-7A= (n.5207-7A=)
c.5327-7A= (n.5327-7A=)
c.5255-7A= (n.5255-7A=)
c.2021-7A= (n.2021-7A=)
c.1883-7A= (n.1883-7A=)
c.4445-7A= (n.4445-7A=)
c.5210-7A= (n.5210-7A=)
c.5399-7A= (n.5399-7A=)
c.5192-7A= (n.5192-7A=)
c.1895-7A= (n.1895-7A=)
n.1209A=
c.5396-7A= (n.5396-7A=)
c.1720-7A=
c.1907-7A= (n.1907-7A=)
c.*5116-7A= (n.*5116-7A=)
c.2021-1498A= (n.2021-1498A=)
c.263-7A= (n.263-7A=)
c.806-7A= (n.806-7A=)
c.32-7A= (n.32-7A=)
n.5469-7A=
n.5510-7A=
17g.43049202G>ACA003502BRCA1c.5330-8C>T (n.5330-8C>T)
c.5333-8C>T (n.5333-8C>T)
c.5207-8C>T (n.5207-8C>T)
c.5327-8C>T (n.5327-8C>T)
c.5255-8C>T (n.5255-8C>T)
c.2021-8C>T (n.2021-8C>T)
c.1883-8C>T (n.1883-8C>T)
c.4445-8C>T (n.4445-8C>T)
c.5210-8C>T (n.5210-8C>T)
c.5399-8C>T (n.5399-8C>T)
c.5192-8C>T (n.5192-8C>T)
c.1895-8C>T (n.1895-8C>T)
n.1208C>T
c.5396-8C>T (n.5396-8C>T)
c.1720-8C>T
c.1907-8C>T (n.1907-8C>T)
c.*5116-8C>T (n.*5116-8C>T)
c.2021-1499C>T (n.2021-1499C>T)
c.263-8C>T (n.263-8C>T)
c.806-8C>T (n.806-8C>T)
c.32-8C>T (n.32-8C>T)
n.5469-8C>T
n.5510-8C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43049202G>CCA916080894BRCA1c.5330-8C>G (n.5330-8C>G)
c.5333-8C>G (n.5333-8C>G)
c.5207-8C>G (n.5207-8C>G)
c.5327-8C>G (n.5327-8C>G)
c.5255-8C>G (n.5255-8C>G)
c.2021-8C>G (n.2021-8C>G)
c.1883-8C>G (n.1883-8C>G)
c.4445-8C>G (n.4445-8C>G)
c.5210-8C>G (n.5210-8C>G)
c.5399-8C>G (n.5399-8C>G)
c.5192-8C>G (n.5192-8C>G)
c.1895-8C>G (n.1895-8C>G)
n.1208C>G
c.5396-8C>G (n.5396-8C>G)
c.1720-8C>G
c.1907-8C>G (n.1907-8C>G)
c.*5116-8C>G (n.*5116-8C>G)
c.2021-1499C>G (n.2021-1499C>G)
c.263-8C>G (n.263-8C>G)
c.806-8C>G (n.806-8C>G)
c.32-8C>G (n.32-8C>G)
n.5469-8C>G
n.5510-8C>G
 ClinVar dbSNP
17g.43049202G=CA2260762808BRCA1c.5330-8C= (n.5330-8C=)
c.5333-8C= (n.5333-8C=)
c.5207-8C= (n.5207-8C=)
c.5327-8C= (n.5327-8C=)
c.5255-8C= (n.5255-8C=)
c.2021-8C= (n.2021-8C=)
c.1883-8C= (n.1883-8C=)
c.4445-8C= (n.4445-8C=)
c.5210-8C= (n.5210-8C=)
c.5399-8C= (n.5399-8C=)
c.5192-8C= (n.5192-8C=)
c.1895-8C= (n.1895-8C=)
n.1208C=
c.5396-8C= (n.5396-8C=)
c.1720-8C=
c.1907-8C= (n.1907-8C=)
c.*5116-8C= (n.*5116-8C=)
c.2021-1499C= (n.2021-1499C=)
c.263-8C= (n.263-8C=)
c.806-8C= (n.806-8C=)
c.32-8C= (n.32-8C=)
n.5469-8C=
n.5510-8C=
17g.43049202G>TCA916080893BRCA1c.5330-8C>A (n.5330-8C>A)
c.5333-8C>A (n.5333-8C>A)
c.5207-8C>A (n.5207-8C>A)
c.5327-8C>A (n.5327-8C>A)
c.5255-8C>A (n.5255-8C>A)
c.2021-8C>A (n.2021-8C>A)
c.1883-8C>A (n.1883-8C>A)
c.4445-8C>A (n.4445-8C>A)
c.5210-8C>A (n.5210-8C>A)
c.5399-8C>A (n.5399-8C>A)
c.5192-8C>A (n.5192-8C>A)
c.1895-8C>A (n.1895-8C>A)
n.1208C>A
c.5396-8C>A (n.5396-8C>A)
c.1720-8C>A
c.1907-8C>A (n.1907-8C>A)
c.*5116-8C>A (n.*5116-8C>A)
c.2021-1499C>A (n.2021-1499C>A)
c.263-8C>A (n.263-8C>A)
c.806-8C>A (n.806-8C>A)
c.32-8C>A (n.32-8C>A)
n.5469-8C>A
n.5510-8C>A
 ClinVar dbSNP
17g.43049203G>ACA916080895BRCA1c.5330-9C>T (n.5330-9C>T)
c.5333-9C>T (n.5333-9C>T)
c.5207-9C>T (n.5207-9C>T)
c.5327-9C>T (n.5327-9C>T)
c.5255-9C>T (n.5255-9C>T)
c.2021-9C>T (n.2021-9C>T)
c.1883-9C>T (n.1883-9C>T)
c.4445-9C>T (n.4445-9C>T)
c.5210-9C>T (n.5210-9C>T)
c.5399-9C>T (n.5399-9C>T)
c.5192-9C>T (n.5192-9C>T)
c.1895-9C>T (n.1895-9C>T)
n.1207C>T
c.5396-9C>T (n.5396-9C>T)
c.1720-9C>T
c.1907-9C>T (n.1907-9C>T)
c.*5116-9C>T (n.*5116-9C>T)
c.2021-1500C>T (n.2021-1500C>T)
c.263-9C>T (n.263-9C>T)
c.806-9C>T (n.806-9C>T)
c.32-9C>T (n.32-9C>T)
n.5469-9C>T
n.5510-9C>T
 ClinVar dbSNP
17g.43049203G>CCA916080897BRCA1c.5330-9C>G (n.5330-9C>G)
c.5333-9C>G (n.5333-9C>G)
c.5207-9C>G (n.5207-9C>G)
c.5327-9C>G (n.5327-9C>G)
c.5255-9C>G (n.5255-9C>G)
c.2021-9C>G (n.2021-9C>G)
c.1883-9C>G (n.1883-9C>G)
c.4445-9C>G (n.4445-9C>G)
c.5210-9C>G (n.5210-9C>G)
c.5399-9C>G (n.5399-9C>G)
c.5192-9C>G (n.5192-9C>G)
c.1895-9C>G (n.1895-9C>G)
n.1207C>G
c.5396-9C>G (n.5396-9C>G)
c.1720-9C>G
c.1907-9C>G (n.1907-9C>G)
c.*5116-9C>G (n.*5116-9C>G)
c.2021-1500C>G (n.2021-1500C>G)
c.263-9C>G (n.263-9C>G)
c.806-9C>G (n.806-9C>G)
c.32-9C>G (n.32-9C>G)
n.5469-9C>G
n.5510-9C>G
 ClinVar dbSNP
17g.43049203G=CA2260762809BRCA1c.5330-9C= (n.5330-9C=)
c.5333-9C= (n.5333-9C=)
c.5207-9C= (n.5207-9C=)
c.5327-9C= (n.5327-9C=)
c.5255-9C= (n.5255-9C=)
c.2021-9C= (n.2021-9C=)
c.1883-9C= (n.1883-9C=)
c.4445-9C= (n.4445-9C=)
c.5210-9C= (n.5210-9C=)
c.5399-9C= (n.5399-9C=)
c.5192-9C= (n.5192-9C=)
c.1895-9C= (n.1895-9C=)
n.1207C=
c.5396-9C= (n.5396-9C=)
c.1720-9C=
c.1907-9C= (n.1907-9C=)
c.*5116-9C= (n.*5116-9C=)
c.2021-1500C= (n.2021-1500C=)
c.263-9C= (n.263-9C=)
c.806-9C= (n.806-9C=)
c.32-9C= (n.32-9C=)
n.5469-9C=
n.5510-9C=
17g.43049203G>TCA916080896BRCA1c.5330-9C>A (n.5330-9C>A)
c.5333-9C>A (n.5333-9C>A)
c.5207-9C>A (n.5207-9C>A)
c.5327-9C>A (n.5327-9C>A)
c.5255-9C>A (n.5255-9C>A)
c.2021-9C>A (n.2021-9C>A)
c.1883-9C>A (n.1883-9C>A)
c.4445-9C>A (n.4445-9C>A)
c.5210-9C>A (n.5210-9C>A)
c.5399-9C>A (n.5399-9C>A)
c.5192-9C>A (n.5192-9C>A)
c.1895-9C>A (n.1895-9C>A)
n.1207C>A
c.5396-9C>A (n.5396-9C>A)
c.1720-9C>A
c.1907-9C>A (n.1907-9C>A)
c.*5116-9C>A (n.*5116-9C>A)
c.2021-1500C>A (n.2021-1500C>A)
c.263-9C>A (n.263-9C>A)
c.806-9C>A (n.806-9C>A)
c.32-9C>A (n.32-9C>A)
n.5469-9C>A
n.5510-9C>A
 ClinVar dbSNP gnomAD v4
17g.43049204A=CA2260762810BRCA1c.5330-10T= (n.5330-10T=)
c.5333-10T= (n.5333-10T=)
c.5207-10T= (n.5207-10T=)
c.5327-10T= (n.5327-10T=)
c.5255-10T= (n.5255-10T=)
c.2021-10T= (n.2021-10T=)
c.1883-10T= (n.1883-10T=)
c.4445-10T= (n.4445-10T=)
c.5210-10T= (n.5210-10T=)
c.5399-10T= (n.5399-10T=)
c.5192-10T= (n.5192-10T=)
c.1895-10T= (n.1895-10T=)
n.1206T=
c.5396-10T= (n.5396-10T=)
c.1720-10T=
c.1907-10T= (n.1907-10T=)
c.*5116-10T= (n.*5116-10T=)
c.2021-1501T= (n.2021-1501T=)
c.263-10T= (n.263-10T=)
c.806-10T= (n.806-10T=)
c.32-10T= (n.32-10T=)
n.5469-10T=
n.5510-10T=
17g.43049204A>CCA916080898BRCA1c.5330-10T>G (n.5330-10T>G)
c.5333-10T>G (n.5333-10T>G)
c.5207-10T>G (n.5207-10T>G)
c.5327-10T>G (n.5327-10T>G)
c.5255-10T>G (n.5255-10T>G)
c.2021-10T>G (n.2021-10T>G)
c.1883-10T>G (n.1883-10T>G)
c.4445-10T>G (n.4445-10T>G)
c.5210-10T>G (n.5210-10T>G)
c.5399-10T>G (n.5399-10T>G)
c.5192-10T>G (n.5192-10T>G)
c.1895-10T>G (n.1895-10T>G)
n.1206T>G
c.5396-10T>G (n.5396-10T>G)
c.1720-10T>G
c.1907-10T>G (n.1907-10T>G)
c.*5116-10T>G (n.*5116-10T>G)
c.2021-1501T>G (n.2021-1501T>G)
c.263-10T>G (n.263-10T>G)
c.806-10T>G (n.806-10T>G)
c.32-10T>G (n.32-10T>G)
n.5469-10T>G
n.5510-10T>G
 ClinVar dbSNP
17g.43049204A>GCA916080899BRCA1c.5330-10T>C (n.5330-10T>C)
c.5333-10T>C (n.5333-10T>C)
c.5207-10T>C (n.5207-10T>C)
c.5327-10T>C (n.5327-10T>C)
c.5255-10T>C (n.5255-10T>C)
c.2021-10T>C (n.2021-10T>C)
c.1883-10T>C (n.1883-10T>C)
c.4445-10T>C (n.4445-10T>C)
c.5210-10T>C (n.5210-10T>C)
c.5399-10T>C (n.5399-10T>C)
c.5192-10T>C (n.5192-10T>C)
c.1895-10T>C (n.1895-10T>C)
n.1206T>C
c.5396-10T>C (n.5396-10T>C)
c.1720-10T>C
c.1907-10T>C (n.1907-10T>C)
c.*5116-10T>C (n.*5116-10T>C)
c.2021-1501T>C (n.2021-1501T>C)
c.263-10T>C (n.263-10T>C)
c.806-10T>C (n.806-10T>C)
c.32-10T>C (n.32-10T>C)
n.5469-10T>C
n.5510-10T>C
 ClinVar dbSNP
17g.43049204A>TCA916080900BRCA1c.5330-10T>A (n.5330-10T>A)
c.5333-10T>A (n.5333-10T>A)
c.5207-10T>A (n.5207-10T>A)
c.5327-10T>A (n.5327-10T>A)
c.5255-10T>A (n.5255-10T>A)
c.2021-10T>A (n.2021-10T>A)
c.1883-10T>A (n.1883-10T>A)
c.4445-10T>A (n.4445-10T>A)
c.5210-10T>A (n.5210-10T>A)
c.5399-10T>A (n.5399-10T>A)
c.5192-10T>A (n.5192-10T>A)
c.1895-10T>A (n.1895-10T>A)
n.1206T>A
c.5396-10T>A (n.5396-10T>A)
c.1720-10T>A
c.1907-10T>A (n.1907-10T>A)
c.*5116-10T>A (n.*5116-10T>A)
c.2021-1501T>A (n.2021-1501T>A)
c.263-10T>A (n.263-10T>A)
c.806-10T>A (n.806-10T>A)
c.32-10T>A (n.32-10T>A)
n.5469-10T>A
n.5510-10T>A
 ClinVar dbSNP
17g.43049205C>ACA916080901BRCA1c.5330-11G>T (n.5330-11G>T)
c.5333-11G>T (n.5333-11G>T)
c.5207-11G>T (n.5207-11G>T)
c.5327-11G>T (n.5327-11G>T)
c.5255-11G>T (n.5255-11G>T)
c.2021-11G>T (n.2021-11G>T)
c.1883-11G>T (n.1883-11G>T)
c.4445-11G>T (n.4445-11G>T)
c.5210-11G>T (n.5210-11G>T)
c.5399-11G>T (n.5399-11G>T)
c.5192-11G>T (n.5192-11G>T)
c.1895-11G>T (n.1895-11G>T)
n.1205G>T
c.5396-11G>T (n.5396-11G>T)
c.1720-11G>T
c.1907-11G>T (n.1907-11G>T)
c.*5116-11G>T (n.*5116-11G>T)
c.2021-1502G>T (n.2021-1502G>T)
c.263-11G>T (n.263-11G>T)
c.806-11G>T (n.806-11G>T)
c.32-11G>T (n.32-11G>T)
n.5469-11G>T
n.5510-11G>T
 ClinVar dbSNP
17g.43049205C=CA2260762812BRCA1c.5330-11G= (n.5330-11G=)
c.5333-11G= (n.5333-11G=)
c.5207-11G= (n.5207-11G=)
c.5327-11G= (n.5327-11G=)
c.5255-11G= (n.5255-11G=)
c.2021-11G= (n.2021-11G=)
c.1883-11G= (n.1883-11G=)
c.4445-11G= (n.4445-11G=)
c.5210-11G= (n.5210-11G=)
c.5399-11G= (n.5399-11G=)
c.5192-11G= (n.5192-11G=)
c.1895-11G= (n.1895-11G=)
n.1205G=
c.5396-11G= (n.5396-11G=)
c.1720-11G=
c.1907-11G= (n.1907-11G=)
c.*5116-11G= (n.*5116-11G=)
c.2021-1502G= (n.2021-1502G=)
c.263-11G= (n.263-11G=)
c.806-11G= (n.806-11G=)
c.32-11G= (n.32-11G=)
n.5469-11G=
n.5510-11G=
17g.43049205C>GCA916080902BRCA1c.5330-11G>C (n.5330-11G>C)
c.5333-11G>C (n.5333-11G>C)
c.5207-11G>C (n.5207-11G>C)
c.5327-11G>C (n.5327-11G>C)
c.5255-11G>C (n.5255-11G>C)
c.2021-11G>C (n.2021-11G>C)
c.1883-11G>C (n.1883-11G>C)
c.4445-11G>C (n.4445-11G>C)
c.5210-11G>C (n.5210-11G>C)
c.5399-11G>C (n.5399-11G>C)
c.5192-11G>C (n.5192-11G>C)
c.1895-11G>C (n.1895-11G>C)
n.1205G>C
c.5396-11G>C (n.5396-11G>C)
c.1720-11G>C
c.1907-11G>C (n.1907-11G>C)
c.*5116-11G>C (n.*5116-11G>C)
c.2021-1502G>C (n.2021-1502G>C)
c.263-11G>C (n.263-11G>C)
c.806-11G>C (n.806-11G>C)
c.32-11G>C (n.32-11G>C)
n.5469-11G>C
n.5510-11G>C
 ClinVar dbSNP
17g.43049205C>TCA16607247BRCA1c.5330-11G>A (n.5330-11G>A)
c.5333-11G>A (n.5333-11G>A)
c.5207-11G>A (n.5207-11G>A)
c.5327-11G>A (n.5327-11G>A)
c.5255-11G>A (n.5255-11G>A)
c.2021-11G>A (n.2021-11G>A)
c.1883-11G>A (n.1883-11G>A)
c.4445-11G>A (n.4445-11G>A)
c.5210-11G>A (n.5210-11G>A)
c.5399-11G>A (n.5399-11G>A)
c.5192-11G>A (n.5192-11G>A)
c.1895-11G>A (n.1895-11G>A)
n.1205G>A
c.5396-11G>A (n.5396-11G>A)
c.1720-11G>A
c.1907-11G>A (n.1907-11G>A)
c.*5116-11G>A (n.*5116-11G>A)
c.2021-1502G>A (n.2021-1502G>A)
c.263-11G>A (n.263-11G>A)
c.806-11G>A (n.806-11G>A)
c.32-11G>A (n.32-11G>A)
n.5469-11G>A
n.5510-11G>A
 ClinVar dbSNP gnomAD v4
17g.43049205_43049206delinsCACA2260762811BRCA1c.5330-12_5330-11delinsTG (n.5330-12_5330-11delinsTG)
c.5333-12_5333-11delinsTG (n.5333-12_5333-11delinsTG)
c.5207-12_5207-11delinsTG (n.5207-12_5207-11delinsTG)
c.5327-12_5327-11delinsTG (n.5327-12_5327-11delinsTG)
c.5255-12_5255-11delinsTG (n.5255-12_5255-11delinsTG)
c.2021-12_2021-11delinsTG (n.2021-12_2021-11delinsTG)
c.1883-12_1883-11delinsTG (n.1883-12_1883-11delinsTG)
c.4445-12_4445-11delinsTG (n.4445-12_4445-11delinsTG)
c.5210-12_5210-11delinsTG (n.5210-12_5210-11delinsTG)
c.5399-12_5399-11delinsTG (n.5399-12_5399-11delinsTG)
c.5192-12_5192-11delinsTG (n.5192-12_5192-11delinsTG)
c.1895-12_1895-11delinsTG (n.1895-12_1895-11delinsTG)
n.1204_1205delinsTG
c.5396-12_5396-11delinsTG (n.5396-12_5396-11delinsTG)
c.1720-12_1720-11delinsTG
c.1907-12_1907-11delinsTG (n.1907-12_1907-11delinsTG)
c.*5116-12_*5116-11delinsTG (n.*5116-12_*5116-11delinsTG)
c.2021-1503_2021-1502delinsTG (n.2021-1503_2021-1502delinsTG)
c.263-12_263-11delinsTG (n.263-12_263-11delinsTG)
c.806-12_806-11delinsTG (n.806-12_806-11delinsTG)
c.32-12_32-11delinsTG (n.32-12_32-11delinsTG)
n.5469-12_5469-11delinsTG
n.5510-12_5510-11delinsTG
17g.43049206delCA919844202BRCA1c.5330-12del (n.5330-12del)
c.5333-12del (n.5333-12del)
c.5207-12del (n.5207-12del)
c.5327-12del (n.5327-12del)
c.5255-12del (n.5255-12del)
c.2021-12del (n.2021-12del)
c.1883-12del (n.1883-12del)
c.4445-12del (n.4445-12del)
c.5210-12del (n.5210-12del)
c.5399-12del (n.5399-12del)
c.5192-12del (n.5192-12del)
c.1895-12del (n.1895-12del)
n.1204del
c.5396-12del (n.5396-12del)
c.1720-12del
c.1907-12del (n.1907-12del)
c.*5116-12del (n.*5116-12del)
c.2021-1503del (n.2021-1503del)
c.263-12del (n.263-12del)
c.806-12del (n.806-12del)
c.32-12del (n.32-12del)
n.5469-12del
n.5510-12del
 dbSNP
17g.43049206A=CA2260762813BRCA1c.5330-12T= (n.5330-12T=)
c.5333-12T= (n.5333-12T=)
c.5207-12T= (n.5207-12T=)
c.5327-12T= (n.5327-12T=)
c.5255-12T= (n.5255-12T=)
c.2021-12T= (n.2021-12T=)
c.1883-12T= (n.1883-12T=)
c.4445-12T= (n.4445-12T=)
c.5210-12T= (n.5210-12T=)
c.5399-12T= (n.5399-12T=)
c.5192-12T= (n.5192-12T=)
c.1895-12T= (n.1895-12T=)
n.1204T=
c.5396-12T= (n.5396-12T=)
c.1720-12T=
c.1907-12T= (n.1907-12T=)
c.*5116-12T= (n.*5116-12T=)
c.2021-1503T= (n.2021-1503T=)
c.263-12T= (n.263-12T=)
c.806-12T= (n.806-12T=)
c.32-12T= (n.32-12T=)
n.5469-12T=
n.5510-12T=
17g.43049206A>CCA916080903BRCA1c.5330-12T>G (n.5330-12T>G)
c.5333-12T>G (n.5333-12T>G)
c.5207-12T>G (n.5207-12T>G)
c.5327-12T>G (n.5327-12T>G)
c.5255-12T>G (n.5255-12T>G)
c.2021-12T>G (n.2021-12T>G)
c.1883-12T>G (n.1883-12T>G)
c.4445-12T>G (n.4445-12T>G)
c.5210-12T>G (n.5210-12T>G)
c.5399-12T>G (n.5399-12T>G)
c.5192-12T>G (n.5192-12T>G)
c.1895-12T>G (n.1895-12T>G)
n.1204T>G
c.5396-12T>G (n.5396-12T>G)
c.1720-12T>G
c.1907-12T>G (n.1907-12T>G)
c.*5116-12T>G (n.*5116-12T>G)
c.2021-1503T>G (n.2021-1503T>G)
c.263-12T>G (n.263-12T>G)
c.806-12T>G (n.806-12T>G)
c.32-12T>G (n.32-12T>G)
n.5469-12T>G
n.5510-12T>G
 ClinVar dbSNP
17g.43049206A>GCA772166831BRCA1c.5330-12T>C (n.5330-12T>C)
c.5333-12T>C (n.5333-12T>C)
c.5207-12T>C (n.5207-12T>C)
c.5327-12T>C (n.5327-12T>C)
c.5255-12T>C (n.5255-12T>C)
c.2021-12T>C (n.2021-12T>C)
c.1883-12T>C (n.1883-12T>C)
c.4445-12T>C (n.4445-12T>C)
c.5210-12T>C (n.5210-12T>C)
c.5399-12T>C (n.5399-12T>C)
c.5192-12T>C (n.5192-12T>C)
c.1895-12T>C (n.1895-12T>C)
n.1204T>C
c.5396-12T>C (n.5396-12T>C)
c.1720-12T>C
c.1907-12T>C (n.1907-12T>C)
c.*5116-12T>C (n.*5116-12T>C)
c.2021-1503T>C (n.2021-1503T>C)
c.263-12T>C (n.263-12T>C)
c.806-12T>C (n.806-12T>C)
c.32-12T>C (n.32-12T>C)
n.5469-12T>C
n.5510-12T>C
 ClinVar dbSNP
17g.43049206A>TCA916080904BRCA1c.5330-12T>A (n.5330-12T>A)
c.5333-12T>A (n.5333-12T>A)
c.5207-12T>A (n.5207-12T>A)
c.5327-12T>A (n.5327-12T>A)
c.5255-12T>A (n.5255-12T>A)
c.2021-12T>A (n.2021-12T>A)
c.1883-12T>A (n.1883-12T>A)
c.4445-12T>A (n.4445-12T>A)
c.5210-12T>A (n.5210-12T>A)
c.5399-12T>A (n.5399-12T>A)
c.5192-12T>A (n.5192-12T>A)
c.1895-12T>A (n.1895-12T>A)
n.1204T>A
c.5396-12T>A (n.5396-12T>A)
c.1720-12T>A
c.1907-12T>A (n.1907-12T>A)
c.*5116-12T>A (n.*5116-12T>A)
c.2021-1503T>A (n.2021-1503T>A)
c.263-12T>A (n.263-12T>A)
c.806-12T>A (n.806-12T>A)
c.32-12T>A (n.32-12T>A)
n.5469-12T>A
n.5510-12T>A
 ClinVar dbSNP
17g.43049207T>ACA916080907BRCA1c.5330-13A>T (n.5330-13A>T)
c.5333-13A>T (n.5333-13A>T)
c.5207-13A>T (n.5207-13A>T)
c.5327-13A>T (n.5327-13A>T)
c.5255-13A>T (n.5255-13A>T)
c.2021-13A>T (n.2021-13A>T)
c.1883-13A>T (n.1883-13A>T)
c.4445-13A>T (n.4445-13A>T)
c.5210-13A>T (n.5210-13A>T)
c.5399-13A>T (n.5399-13A>T)
c.5192-13A>T (n.5192-13A>T)
c.1895-13A>T (n.1895-13A>T)
n.1203A>T
c.5396-13A>T (n.5396-13A>T)
c.1720-13A>T
c.1907-13A>T (n.1907-13A>T)
c.*5116-13A>T (n.*5116-13A>T)
c.2021-1504A>T (n.2021-1504A>T)
c.263-13A>T (n.263-13A>T)
c.806-13A>T (n.806-13A>T)
c.32-13A>T (n.32-13A>T)
n.5469-13A>T
n.5510-13A>T
 ClinVar dbSNP
17g.43049207T>CCA916080905BRCA1c.5330-13A>G (n.5330-13A>G)
c.5333-13A>G (n.5333-13A>G)
c.5207-13A>G (n.5207-13A>G)
c.5327-13A>G (n.5327-13A>G)
c.5255-13A>G (n.5255-13A>G)
c.2021-13A>G (n.2021-13A>G)
c.1883-13A>G (n.1883-13A>G)
c.4445-13A>G (n.4445-13A>G)
c.5210-13A>G (n.5210-13A>G)
c.5399-13A>G (n.5399-13A>G)
c.5192-13A>G (n.5192-13A>G)
c.1895-13A>G (n.1895-13A>G)
n.1203A>G
c.5396-13A>G (n.5396-13A>G)
c.1720-13A>G
c.1907-13A>G (n.1907-13A>G)
c.*5116-13A>G (n.*5116-13A>G)
c.2021-1504A>G (n.2021-1504A>G)
c.263-13A>G (n.263-13A>G)
c.806-13A>G (n.806-13A>G)
c.32-13A>G (n.32-13A>G)
n.5469-13A>G
n.5510-13A>G
 ClinVar dbSNP
17g.43049207T>GCA916080906BRCA1c.5330-13A>C (n.5330-13A>C)
c.5333-13A>C (n.5333-13A>C)
c.5207-13A>C (n.5207-13A>C)
c.5327-13A>C (n.5327-13A>C)
c.5255-13A>C (n.5255-13A>C)
c.2021-13A>C (n.2021-13A>C)
c.1883-13A>C (n.1883-13A>C)
c.4445-13A>C (n.4445-13A>C)
c.5210-13A>C (n.5210-13A>C)
c.5399-13A>C (n.5399-13A>C)
c.5192-13A>C (n.5192-13A>C)
c.1895-13A>C (n.1895-13A>C)
n.1203A>C
c.5396-13A>C (n.5396-13A>C)
c.1720-13A>C
c.1907-13A>C (n.1907-13A>C)
c.*5116-13A>C (n.*5116-13A>C)
c.2021-1504A>C (n.2021-1504A>C)
c.263-13A>C (n.263-13A>C)
c.806-13A>C (n.806-13A>C)
c.32-13A>C (n.32-13A>C)
n.5469-13A>C
n.5510-13A>C
 ClinVar dbSNP
17g.43049207T=CA2260762814BRCA1c.5330-13A= (n.5330-13A=)
c.5333-13A= (n.5333-13A=)
c.5207-13A= (n.5207-13A=)
c.5327-13A= (n.5327-13A=)
c.5255-13A= (n.5255-13A=)
c.2021-13A= (n.2021-13A=)
c.1883-13A= (n.1883-13A=)
c.4445-13A= (n.4445-13A=)
c.5210-13A= (n.5210-13A=)
c.5399-13A= (n.5399-13A=)
c.5192-13A= (n.5192-13A=)
c.1895-13A= (n.1895-13A=)
n.1203A=
c.5396-13A= (n.5396-13A=)
c.1720-13A=
c.1907-13A= (n.1907-13A=)
c.*5116-13A= (n.*5116-13A=)
c.2021-1504A= (n.2021-1504A=)
c.263-13A= (n.263-13A=)
c.806-13A= (n.806-13A=)
c.32-13A= (n.32-13A=)
n.5469-13A=
n.5510-13A=
17g.43049209delCA2733924829BRCA1c.5330-13del (n.5330-13del)
c.5333-13del (n.5333-13del)
c.5207-13del (n.5207-13del)
c.5327-13del (n.5327-13del)
c.5255-13del (n.5255-13del)
c.2021-13del (n.2021-13del)
c.1883-13del (n.1883-13del)
c.4445-13del (n.4445-13del)
c.5210-13del (n.5210-13del)
c.5399-13del (n.5399-13del)
c.5192-13del (n.5192-13del)
c.1895-13del (n.1895-13del)
n.1203del
c.5396-13del (n.5396-13del)
c.1720-13del
c.1907-13del (n.1907-13del)
c.*5116-13del (n.*5116-13del)
c.2021-1504del (n.2021-1504del)
c.263-13del (n.263-13del)
c.806-13del (n.806-13del)
c.32-13del (n.32-13del)
n.5469-13del
n.5510-13del
 ClinVar dbSNP
17g.43049208T>CCA2733924844BRCA1c.5330-14A>G (n.5330-14A>G)
c.5333-14A>G (n.5333-14A>G)
c.5207-14A>G (n.5207-14A>G)
c.5327-14A>G (n.5327-14A>G)
c.5255-14A>G (n.5255-14A>G)
c.2021-14A>G (n.2021-14A>G)
c.1883-14A>G (n.1883-14A>G)
c.4445-14A>G (n.4445-14A>G)
c.5210-14A>G (n.5210-14A>G)
c.5399-14A>G (n.5399-14A>G)
c.5192-14A>G (n.5192-14A>G)
c.1895-14A>G (n.1895-14A>G)
n.1202A>G
c.5396-14A>G (n.5396-14A>G)
c.1720-14A>G
c.1907-14A>G (n.1907-14A>G)
c.*5116-14A>G (n.*5116-14A>G)
c.2021-1505A>G (n.2021-1505A>G)
c.263-14A>G (n.263-14A>G)
c.806-14A>G (n.806-14A>G)
c.32-14A>G (n.32-14A>G)
n.5469-14A>G
n.5510-14A>G
 dbSNP
17g.43049209T>ACA2733692461BRCA1c.5330-15A>T (n.5330-15A>T)
c.5333-15A>T (n.5333-15A>T)
c.5207-15A>T (n.5207-15A>T)
c.5327-15A>T (n.5327-15A>T)
c.5255-15A>T (n.5255-15A>T)
c.2021-15A>T (n.2021-15A>T)
c.1883-15A>T (n.1883-15A>T)
c.4445-15A>T (n.4445-15A>T)
c.5210-15A>T (n.5210-15A>T)
c.5399-15A>T (n.5399-15A>T)
c.5192-15A>T (n.5192-15A>T)
c.1895-15A>T (n.1895-15A>T)
n.1201A>T
c.5396-15A>T (n.5396-15A>T)
c.1720-15A>T
c.1907-15A>T (n.1907-15A>T)
c.*5116-15A>T (n.*5116-15A>T)
c.2021-1506A>T (n.2021-1506A>T)
c.263-15A>T (n.263-15A>T)
c.806-15A>T (n.806-15A>T)
c.32-15A>T (n.32-15A>T)
n.5469-15A>T
n.5510-15A>T
 dbSNP
17g.43049209T>CCA983867463BRCA1c.5330-15A>G (n.5330-15A>G)
c.5333-15A>G (n.5333-15A>G)
c.5207-15A>G (n.5207-15A>G)
c.5327-15A>G (n.5327-15A>G)
c.5255-15A>G (n.5255-15A>G)
c.2021-15A>G (n.2021-15A>G)
c.1883-15A>G (n.1883-15A>G)
c.4445-15A>G (n.4445-15A>G)
c.5210-15A>G (n.5210-15A>G)
c.5399-15A>G (n.5399-15A>G)
c.5192-15A>G (n.5192-15A>G)
c.1895-15A>G (n.1895-15A>G)
n.1201A>G
c.5396-15A>G (n.5396-15A>G)
c.1720-15A>G
c.1907-15A>G (n.1907-15A>G)
c.*5116-15A>G (n.*5116-15A>G)
c.2021-1506A>G (n.2021-1506A>G)
c.263-15A>G (n.263-15A>G)
c.806-15A>G (n.806-15A>G)
c.32-15A>G (n.32-15A>G)
n.5469-15A>G
n.5510-15A>G
 dbSNP gnomAD v3 gnomAD v4
17g.43049209T=CA2260762815BRCA1c.5330-15A= (n.5330-15A=)
c.5333-15A= (n.5333-15A=)
c.5207-15A= (n.5207-15A=)
c.5327-15A= (n.5327-15A=)
c.5255-15A= (n.5255-15A=)
c.2021-15A= (n.2021-15A=)
c.1883-15A= (n.1883-15A=)
c.4445-15A= (n.4445-15A=)
c.5210-15A= (n.5210-15A=)
c.5399-15A= (n.5399-15A=)
c.5192-15A= (n.5192-15A=)
c.1895-15A= (n.1895-15A=)
n.1201A=
c.5396-15A= (n.5396-15A=)
c.1720-15A=
c.1907-15A= (n.1907-15A=)
c.*5116-15A= (n.*5116-15A=)
c.2021-1506A= (n.2021-1506A=)
c.263-15A= (n.263-15A=)
c.806-15A= (n.806-15A=)
c.32-15A= (n.32-15A=)
n.5469-15A=
n.5510-15A=
17g.43049210A>GCA2733924846BRCA1c.5330-16T>C (n.5330-16T>C)
c.5333-16T>C (n.5333-16T>C)
c.5207-16T>C (n.5207-16T>C)
c.5327-16T>C (n.5327-16T>C)
c.5255-16T>C (n.5255-16T>C)
c.2021-16T>C (n.2021-16T>C)
c.1883-16T>C (n.1883-16T>C)
c.4445-16T>C (n.4445-16T>C)
c.5210-16T>C (n.5210-16T>C)
c.5399-16T>C (n.5399-16T>C)
c.5192-16T>C (n.5192-16T>C)
c.1895-16T>C (n.1895-16T>C)
n.1200T>C
c.5396-16T>C (n.5396-16T>C)
c.1720-16T>C
c.1907-16T>C (n.1907-16T>C)
c.*5116-16T>C (n.*5116-16T>C)
c.2021-1507T>C (n.2021-1507T>C)
c.263-16T>C (n.263-16T>C)
c.806-16T>C (n.806-16T>C)
c.32-16T>C (n.32-16T>C)
n.5469-16T>C
n.5510-16T>C
 dbSNP
17g.43049210A>TCA2733924847BRCA1c.5330-16T>A (n.5330-16T>A)
c.5333-16T>A (n.5333-16T>A)
c.5207-16T>A (n.5207-16T>A)
c.5327-16T>A (n.5327-16T>A)
c.5255-16T>A (n.5255-16T>A)
c.2021-16T>A (n.2021-16T>A)
c.1883-16T>A (n.1883-16T>A)
c.4445-16T>A (n.4445-16T>A)
c.5210-16T>A (n.5210-16T>A)
c.5399-16T>A (n.5399-16T>A)
c.5192-16T>A (n.5192-16T>A)
c.1895-16T>A (n.1895-16T>A)
n.1200T>A
c.5396-16T>A (n.5396-16T>A)
c.1720-16T>A
c.1907-16T>A (n.1907-16T>A)
c.*5116-16T>A (n.*5116-16T>A)
c.2021-1507T>A (n.2021-1507T>A)
c.263-16T>A (n.263-16T>A)
c.806-16T>A (n.806-16T>A)
c.32-16T>A (n.32-16T>A)
n.5469-16T>A
n.5510-16T>A
 dbSNP
17g.43049210_43049211insCTCA2739265620BRCA1c.5330-17_5330-16insAG (n.5330-17_5330-16insAG)
c.5333-17_5333-16insAG (n.5333-17_5333-16insAG)
c.5207-17_5207-16insAG (n.5207-17_5207-16insAG)
c.5327-17_5327-16insAG (n.5327-17_5327-16insAG)
c.5255-17_5255-16insAG (n.5255-17_5255-16insAG)
c.2021-17_2021-16insAG (n.2021-17_2021-16insAG)
c.1883-17_1883-16insAG (n.1883-17_1883-16insAG)
c.4445-17_4445-16insAG (n.4445-17_4445-16insAG)
c.5210-17_5210-16insAG (n.5210-17_5210-16insAG)
c.5399-17_5399-16insAG (n.5399-17_5399-16insAG)
c.5192-17_5192-16insAG (n.5192-17_5192-16insAG)
c.1895-17_1895-16insAG (n.1895-17_1895-16insAG)
n.1199_1200insAG
c.5396-17_5396-16insAG (n.5396-17_5396-16insAG)
c.1720-17_1720-16insAG
c.1907-17_1907-16insAG (n.1907-17_1907-16insAG)
c.*5116-17_*5116-16insAG (n.*5116-17_*5116-16insAG)
c.2021-1508_2021-1507insAG (n.2021-1508_2021-1507insAG)
c.263-17_263-16insAG (n.263-17_263-16insAG)
c.806-17_806-16insAG (n.806-17_806-16insAG)
c.32-17_32-16insAG (n.32-17_32-16insAG)
n.5469-17_5469-16insAG
n.5510-17_5510-16insAG
 ClinVar
17g.43049211G>ACA2580093963BRCA1c.5330-17C>T (n.5330-17C>T)
c.5333-17C>T (n.5333-17C>T)
c.5207-17C>T (n.5207-17C>T)
c.5327-17C>T (n.5327-17C>T)
c.5255-17C>T (n.5255-17C>T)
c.2021-17C>T (n.2021-17C>T)
c.1883-17C>T (n.1883-17C>T)
c.4445-17C>T (n.4445-17C>T)
c.5210-17C>T (n.5210-17C>T)
c.5399-17C>T (n.5399-17C>T)
c.5192-17C>T (n.5192-17C>T)
c.1895-17C>T (n.1895-17C>T)
n.1199C>T
c.5396-17C>T (n.5396-17C>T)
c.1720-17C>T
c.1907-17C>T (n.1907-17C>T)
c.*5116-17C>T (n.*5116-17C>T)
c.2021-1508C>T (n.2021-1508C>T)
c.263-17C>T (n.263-17C>T)
c.806-17C>T (n.806-17C>T)
c.32-17C>T (n.32-17C>T)
n.5469-17C>T
n.5510-17C>T
 ClinVar dbSNP
17g.43049211G>CCA983867464BRCA1c.5330-17C>G (n.5330-17C>G)
c.5333-17C>G (n.5333-17C>G)
c.5207-17C>G (n.5207-17C>G)
c.5327-17C>G (n.5327-17C>G)
c.5255-17C>G (n.5255-17C>G)
c.2021-17C>G (n.2021-17C>G)
c.1883-17C>G (n.1883-17C>G)
c.4445-17C>G (n.4445-17C>G)
c.5210-17C>G (n.5210-17C>G)
c.5399-17C>G (n.5399-17C>G)
c.5192-17C>G (n.5192-17C>G)
c.1895-17C>G (n.1895-17C>G)
n.1199C>G
c.5396-17C>G (n.5396-17C>G)
c.1720-17C>G
c.1907-17C>G (n.1907-17C>G)
c.*5116-17C>G (n.*5116-17C>G)
c.2021-1508C>G (n.2021-1508C>G)
c.263-17C>G (n.263-17C>G)
c.806-17C>G (n.806-17C>G)
c.32-17C>G (n.32-17C>G)
n.5469-17C>G
n.5510-17C>G
 ClinVar dbSNP gnomAD v4
17g.43049211G=CA2260762816BRCA1c.5330-17C= (n.5330-17C=)
c.5333-17C= (n.5333-17C=)
c.5207-17C= (n.5207-17C=)
c.5327-17C= (n.5327-17C=)
c.5255-17C= (n.5255-17C=)
c.2021-17C= (n.2021-17C=)
c.1883-17C= (n.1883-17C=)
c.4445-17C= (n.4445-17C=)
c.5210-17C= (n.5210-17C=)
c.5399-17C= (n.5399-17C=)
c.5192-17C= (n.5192-17C=)
c.1895-17C= (n.1895-17C=)
n.1199C=
c.5396-17C= (n.5396-17C=)
c.1720-17C=
c.1907-17C= (n.1907-17C=)
c.*5116-17C= (n.*5116-17C=)
c.2021-1508C= (n.2021-1508C=)
c.263-17C= (n.263-17C=)
c.806-17C= (n.806-17C=)
c.32-17C= (n.32-17C=)
n.5469-17C=
n.5510-17C=
17g.43049211G>TCA2573154042BRCA1c.5330-17C>A (n.5330-17C>A)
c.5333-17C>A (n.5333-17C>A)
c.5207-17C>A (n.5207-17C>A)
c.5327-17C>A (n.5327-17C>A)
c.5255-17C>A (n.5255-17C>A)
c.2021-17C>A (n.2021-17C>A)
c.1883-17C>A (n.1883-17C>A)
c.4445-17C>A (n.4445-17C>A)
c.5210-17C>A (n.5210-17C>A)
c.5399-17C>A (n.5399-17C>A)
c.5192-17C>A (n.5192-17C>A)
c.1895-17C>A (n.1895-17C>A)
n.1199C>A
c.5396-17C>A (n.5396-17C>A)
c.1720-17C>A
c.1907-17C>A (n.1907-17C>A)
c.*5116-17C>A (n.*5116-17C>A)
c.2021-1508C>A (n.2021-1508C>A)
c.263-17C>A (n.263-17C>A)
c.806-17C>A (n.806-17C>A)
c.32-17C>A (n.32-17C>A)
n.5469-17C>A
n.5510-17C>A
 ClinVar dbSNP gnomAD v4
17g.43049212A=CA2260762817BRCA1c.5330-18T= (n.5330-18T=)
c.5333-18T= (n.5333-18T=)
c.5207-18T= (n.5207-18T=)
c.5327-18T= (n.5327-18T=)
c.5255-18T= (n.5255-18T=)
c.2021-18T= (n.2021-18T=)
c.1883-18T= (n.1883-18T=)
c.4445-18T= (n.4445-18T=)
c.5210-18T= (n.5210-18T=)
c.5399-18T= (n.5399-18T=)
c.5192-18T= (n.5192-18T=)
c.1895-18T= (n.1895-18T=)
n.1198T=
c.5396-18T= (n.5396-18T=)
c.1720-18T=
c.1907-18T= (n.1907-18T=)
c.*5116-18T= (n.*5116-18T=)
c.2021-1509T= (n.2021-1509T=)
c.263-18T= (n.263-18T=)
c.806-18T= (n.806-18T=)
c.32-18T= (n.32-18T=)
n.5469-18T=
n.5510-18T=
17g.43049212A>CCA658684045BRCA1c.5330-18T>G (n.5330-18T>G)
c.5333-18T>G (n.5333-18T>G)
c.5207-18T>G (n.5207-18T>G)
c.5327-18T>G (n.5327-18T>G)
c.5255-18T>G (n.5255-18T>G)
c.2021-18T>G (n.2021-18T>G)
c.1883-18T>G (n.1883-18T>G)
c.4445-18T>G (n.4445-18T>G)
c.5210-18T>G (n.5210-18T>G)
c.5399-18T>G (n.5399-18T>G)
c.5192-18T>G (n.5192-18T>G)
c.1895-18T>G (n.1895-18T>G)
n.1198T>G
c.5396-18T>G (n.5396-18T>G)
c.1720-18T>G
c.1907-18T>G (n.1907-18T>G)
c.*5116-18T>G (n.*5116-18T>G)
c.2021-1509T>G (n.2021-1509T>G)
c.263-18T>G (n.263-18T>G)
c.806-18T>G (n.806-18T>G)
c.32-18T>G (n.32-18T>G)
n.5469-18T>G
n.5510-18T>G
 ClinVar dbSNP
17g.43049212A>TCA2573154043BRCA1c.5330-18T>A (n.5330-18T>A)
c.5333-18T>A (n.5333-18T>A)
c.5207-18T>A (n.5207-18T>A)
c.5327-18T>A (n.5327-18T>A)
c.5255-18T>A (n.5255-18T>A)
c.2021-18T>A (n.2021-18T>A)
c.1883-18T>A (n.1883-18T>A)
c.4445-18T>A (n.4445-18T>A)
c.5210-18T>A (n.5210-18T>A)
c.5399-18T>A (n.5399-18T>A)
c.5192-18T>A (n.5192-18T>A)
c.1895-18T>A (n.1895-18T>A)
n.1198T>A
c.5396-18T>A (n.5396-18T>A)
c.1720-18T>A
c.1907-18T>A (n.1907-18T>A)
c.*5116-18T>A (n.*5116-18T>A)
c.2021-1509T>A (n.2021-1509T>A)
c.263-18T>A (n.263-18T>A)
c.806-18T>A (n.806-18T>A)
c.32-18T>A (n.32-18T>A)
n.5469-18T>A
n.5510-18T>A
 ClinVar dbSNP gnomAD v4
17g.43049213T>ACA2733924852BRCA1c.5330-19A>T (n.5330-19A>T)
c.5333-19A>T (n.5333-19A>T)
c.5207-19A>T (n.5207-19A>T)
c.5327-19A>T (n.5327-19A>T)
c.5255-19A>T (n.5255-19A>T)
c.2021-19A>T (n.2021-19A>T)
c.1883-19A>T (n.1883-19A>T)
c.4445-19A>T (n.4445-19A>T)
c.5210-19A>T (n.5210-19A>T)
c.5399-19A>T (n.5399-19A>T)
c.5192-19A>T (n.5192-19A>T)
c.1895-19A>T (n.1895-19A>T)
n.1197A>T
c.5396-19A>T (n.5396-19A>T)
c.1720-19A>T
c.1907-19A>T (n.1907-19A>T)
c.*5116-19A>T (n.*5116-19A>T)
c.2021-1510A>T (n.2021-1510A>T)
c.263-19A>T (n.263-19A>T)
c.806-19A>T (n.806-19A>T)
c.32-19A>T (n.32-19A>T)
n.5469-19A>T
n.5510-19A>T
 ClinVar dbSNP
17g.43049213T>CCA2638060709BRCA1c.5330-19A>G (n.5330-19A>G)
c.5333-19A>G (n.5333-19A>G)
c.5207-19A>G (n.5207-19A>G)
c.5327-19A>G (n.5327-19A>G)
c.5255-19A>G (n.5255-19A>G)
c.2021-19A>G (n.2021-19A>G)
c.1883-19A>G (n.1883-19A>G)
c.4445-19A>G (n.4445-19A>G)
c.5210-19A>G (n.5210-19A>G)
c.5399-19A>G (n.5399-19A>G)
c.5192-19A>G (n.5192-19A>G)
c.1895-19A>G (n.1895-19A>G)
n.1197A>G
c.5396-19A>G (n.5396-19A>G)
c.1720-19A>G
c.1907-19A>G (n.1907-19A>G)
c.*5116-19A>G (n.*5116-19A>G)
c.2021-1510A>G (n.2021-1510A>G)
c.263-19A>G (n.263-19A>G)
c.806-19A>G (n.806-19A>G)
c.32-19A>G (n.32-19A>G)
n.5469-19A>G
n.5510-19A>G
 gnomAD v4
17g.43049213T=CA2260762818BRCA1c.5330-19A= (n.5330-19A=)
c.5333-19A= (n.5333-19A=)
c.5207-19A= (n.5207-19A=)
c.5327-19A= (n.5327-19A=)
c.5255-19A= (n.5255-19A=)
c.2021-19A= (n.2021-19A=)
c.1883-19A= (n.1883-19A=)
c.4445-19A= (n.4445-19A=)
c.5210-19A= (n.5210-19A=)
c.5399-19A= (n.5399-19A=)
c.5192-19A= (n.5192-19A=)
c.1895-19A= (n.1895-19A=)
n.1197A=
c.5396-19A= (n.5396-19A=)
c.1720-19A=
c.1907-19A= (n.1907-19A=)
c.*5116-19A= (n.*5116-19A=)
c.2021-1510A= (n.2021-1510A=)
c.263-19A= (n.263-19A=)
c.806-19A= (n.806-19A=)
c.32-19A= (n.32-19A=)
n.5469-19A=
n.5510-19A=
17g.43049214G>ACA2733924859BRCA1c.5330-20C>T (n.5330-20C>T)
c.5333-20C>T (n.5333-20C>T)
c.5207-20C>T (n.5207-20C>T)
c.5327-20C>T (n.5327-20C>T)
c.5255-20C>T (n.5255-20C>T)
c.2021-20C>T (n.2021-20C>T)
c.1883-20C>T (n.1883-20C>T)
c.4445-20C>T (n.4445-20C>T)
c.5210-20C>T (n.5210-20C>T)
c.5399-20C>T (n.5399-20C>T)
c.5192-20C>T (n.5192-20C>T)
c.1895-20C>T (n.1895-20C>T)
n.1196C>T
c.5396-20C>T (n.5396-20C>T)
c.1720-20C>T
c.1907-20C>T (n.1907-20C>T)
c.*5116-20C>T (n.*5116-20C>T)
c.2021-1511C>T (n.2021-1511C>T)
c.263-20C>T (n.263-20C>T)
c.806-20C>T (n.806-20C>T)
c.32-20C>T (n.32-20C>T)
n.5469-20C>T
n.5510-20C>T
 ClinVar dbSNP
17g.43049214G>CCA2733924887BRCA1c.5330-20C>G (n.5330-20C>G)
c.5333-20C>G (n.5333-20C>G)
c.5207-20C>G (n.5207-20C>G)
c.5327-20C>G (n.5327-20C>G)
c.5255-20C>G (n.5255-20C>G)
c.2021-20C>G (n.2021-20C>G)
c.1883-20C>G (n.1883-20C>G)
c.4445-20C>G (n.4445-20C>G)
c.5210-20C>G (n.5210-20C>G)
c.5399-20C>G (n.5399-20C>G)
c.5192-20C>G (n.5192-20C>G)
c.1895-20C>G (n.1895-20C>G)
n.1196C>G
c.5396-20C>G (n.5396-20C>G)
c.1720-20C>G
c.1907-20C>G (n.1907-20C>G)
c.*5116-20C>G (n.*5116-20C>G)
c.2021-1511C>G (n.2021-1511C>G)
c.263-20C>G (n.263-20C>G)
c.806-20C>G (n.806-20C>G)
c.32-20C>G (n.32-20C>G)
n.5469-20C>G
n.5510-20C>G
 dbSNP
17g.43049219_43049220insATCACTGCAGTAAAACA919844204BRCA1c.5330-20_5330-19insTGCAGTGATTTTTAC (n.5330-20_5330-19insTGCAGTGATTTTTAC)
c.5333-20_5333-19insTGCAGTGATTTTTAC (n.5333-20_5333-19insTGCAGTGATTTTTAC)
c.5207-20_5207-19insTGCAGTGATTTTTAC (n.5207-20_5207-19insTGCAGTGATTTTTAC)
c.5327-20_5327-19insTGCAGTGATTTTTAC (n.5327-20_5327-19insTGCAGTGATTTTTAC)
c.5255-20_5255-19insTGCAGTGATTTTTAC (n.5255-20_5255-19insTGCAGTGATTTTTAC)
c.2021-20_2021-19insTGCAGTGATTTTTAC (n.2021-20_2021-19insTGCAGTGATTTTTAC)
c.1883-20_1883-19insTGCAGTGATTTTTAC (n.1883-20_1883-19insTGCAGTGATTTTTAC)
c.4445-20_4445-19insTGCAGTGATTTTTAC (n.4445-20_4445-19insTGCAGTGATTTTTAC)
c.5210-20_5210-19insTGCAGTGATTTTTAC (n.5210-20_5210-19insTGCAGTGATTTTTAC)
c.5399-20_5399-19insTGCAGTGATTTTTAC (n.5399-20_5399-19insTGCAGTGATTTTTAC)
c.5192-20_5192-19insTGCAGTGATTTTTAC (n.5192-20_5192-19insTGCAGTGATTTTTAC)
c.1895-20_1895-19insTGCAGTGATTTTTAC (n.1895-20_1895-19insTGCAGTGATTTTTAC)
n.1196_1197insTGCAGTGATTTTTAC
c.5396-20_5396-19insTGCAGTGATTTTTAC (n.5396-20_5396-19insTGCAGTGATTTTTAC)
c.1720-20_1720-19insTGCAGTGATTTTTAC
c.1907-20_1907-19insTGCAGTGATTTTTAC (n.1907-20_1907-19insTGCAGTGATTTTTAC)
c.*5116-20_*5116-19insTGCAGTGATTTTTAC (n.*5116-20_*5116-19insTGCAGTGATTTTTAC)
c.2021-1511_2021-1510insTGCAGTGATTTTTAC (n.2021-1511_2021-1510insTGCAGTGATTTTTAC)
c.263-20_263-19insTGCAGTGATTTTTAC (n.263-20_263-19insTGCAGTGATTTTTAC)
c.806-20_806-19insTGCAGTGATTTTTAC (n.806-20_806-19insTGCAGTGATTTTTAC)
c.32-20_32-19insTGCAGTGATTTTTAC (n.32-20_32-19insTGCAGTGATTTTTAC)
n.5469-20_5469-19insTGCAGTGATTTTTAC
n.5510-20_5510-19insTGCAGTGATTTTTAC
 dbSNP
17g.43049215T>GCA2740090952BRCA1c.5330-21A>C (n.5330-21A>C)
c.5333-21A>C (n.5333-21A>C)
c.5207-21A>C (n.5207-21A>C)
c.5327-21A>C (n.5327-21A>C)
c.5255-21A>C (n.5255-21A>C)
c.2021-21A>C (n.2021-21A>C)
c.1883-21A>C (n.1883-21A>C)
c.4445-21A>C (n.4445-21A>C)
c.5210-21A>C (n.5210-21A>C)
c.5399-21A>C (n.5399-21A>C)
c.5192-21A>C (n.5192-21A>C)
c.1895-21A>C (n.1895-21A>C)
n.1195A>C
c.5396-21A>C (n.5396-21A>C)
c.1720-21A>C
c.1907-21A>C (n.1907-21A>C)
c.*5116-21A>C (n.*5116-21A>C)
c.2021-1512A>C (n.2021-1512A>C)
c.263-21A>C (n.263-21A>C)
c.806-21A>C (n.806-21A>C)
c.32-21A>C (n.32-21A>C)
n.5469-21A>C
n.5510-21A>C
 ClinVar
17g.43049215_43049230delinsTAAAATCACTGCAGTACA2260762819BRCA1c.5330-36_5330-21delinsTACTGCAGTGATTTTA (n.5330-36_5330-21delinsTACTGCAGTGATTTTA)
c.5333-36_5333-21delinsTACTGCAGTGATTTTA (n.5333-36_5333-21delinsTACTGCAGTGATTTTA)
c.5207-36_5207-21delinsTACTGCAGTGATTTTA (n.5207-36_5207-21delinsTACTGCAGTGATTTTA)
c.5327-36_5327-21delinsTACTGCAGTGATTTTA (n.5327-36_5327-21delinsTACTGCAGTGATTTTA)
c.5255-36_5255-21delinsTACTGCAGTGATTTTA (n.5255-36_5255-21delinsTACTGCAGTGATTTTA)
c.2021-36_2021-21delinsTACTGCAGTGATTTTA (n.2021-36_2021-21delinsTACTGCAGTGATTTTA)
c.1883-36_1883-21delinsTACTGCAGTGATTTTA (n.1883-36_1883-21delinsTACTGCAGTGATTTTA)
c.4445-36_4445-21delinsTACTGCAGTGATTTTA (n.4445-36_4445-21delinsTACTGCAGTGATTTTA)
c.5210-36_5210-21delinsTACTGCAGTGATTTTA (n.5210-36_5210-21delinsTACTGCAGTGATTTTA)
c.5399-36_5399-21delinsTACTGCAGTGATTTTA (n.5399-36_5399-21delinsTACTGCAGTGATTTTA)
c.5192-36_5192-21delinsTACTGCAGTGATTTTA (n.5192-36_5192-21delinsTACTGCAGTGATTTTA)
c.1895-36_1895-21delinsTACTGCAGTGATTTTA (n.1895-36_1895-21delinsTACTGCAGTGATTTTA)
n.1180_1195delinsTACTGCAGTGATTTTA
c.5396-36_5396-21delinsTACTGCAGTGATTTTA (n.5396-36_5396-21delinsTACTGCAGTGATTTTA)
c.1720-36_1720-21delinsTACTGCAGTGATTTTA
c.1907-36_1907-21delinsTACTGCAGTGATTTTA (n.1907-36_1907-21delinsTACTGCAGTGATTTTA)
c.*5116-36_*5116-21delinsTACTGCAGTGATTTTA (n.*5116-36_*5116-21delinsTACTGCAGTGATTTTA)
c.2021-1527_2021-1512delinsTACTGCAGTGATTTTA (n.2021-1527_2021-1512delinsTACTGCAGTGATTTTA)
c.263-36_263-21delinsTACTGCAGTGATTTTA (n.263-36_263-21delinsTACTGCAGTGATTTTA)
c.806-36_806-21delinsTACTGCAGTGATTTTA (n.806-36_806-21delinsTACTGCAGTGATTTTA)
c.32-36_32-21delinsTACTGCAGTGATTTTA (n.32-36_32-21delinsTACTGCAGTGATTTTA)
n.5469-36_5469-21delinsTACTGCAGTGATTTTA
n.5510-36_5510-21delinsTACTGCAGTGATTTTA
17g.43049217_43049231delCA645373150BRCA1c.5330-36_5330-22del (n.5330-36_5330-22del)
c.5333-36_5333-22del (n.5333-36_5333-22del)
c.5207-36_5207-22del (n.5207-36_5207-22del)
c.5327-36_5327-22del (n.5327-36_5327-22del)
c.5255-36_5255-22del (n.5255-36_5255-22del)
c.2021-36_2021-22del (n.2021-36_2021-22del)
c.1883-36_1883-22del (n.1883-36_1883-22del)
c.4445-36_4445-22del (n.4445-36_4445-22del)
c.5210-36_5210-22del (n.5210-36_5210-22del)
c.5399-36_5399-22del (n.5399-36_5399-22del)
c.5192-36_5192-22del (n.5192-36_5192-22del)
c.1895-36_1895-22del (n.1895-36_1895-22del)
n.1180_1194del
c.5396-36_5396-22del (n.5396-36_5396-22del)
c.1720-36_1720-22del
c.1907-36_1907-22del (n.1907-36_1907-22del)
c.*5116-36_*5116-22del (n.*5116-36_*5116-22del)
c.2021-1527_2021-1513del (n.2021-1527_2021-1513del)
c.263-36_263-22del (n.263-36_263-22del)
c.806-36_806-22del (n.806-36_806-22del)
c.32-36_32-22del (n.32-36_32-22del)
n.5469-36_5469-22del
n.5510-36_5510-22del
 ClinVar dbSNP
17g.43049219A=CA2260762820BRCA1c.5330-25T= (n.5330-25T=)
c.5333-25T= (n.5333-25T=)
c.5207-25T= (n.5207-25T=)
c.5327-25T= (n.5327-25T=)
c.5255-25T= (n.5255-25T=)
c.2021-25T= (n.2021-25T=)
c.1883-25T= (n.1883-25T=)
c.4445-25T= (n.4445-25T=)
c.5210-25T= (n.5210-25T=)
c.5399-25T= (n.5399-25T=)
c.5192-25T= (n.5192-25T=)
c.1895-25T= (n.1895-25T=)
n.1191T=
c.5396-25T= (n.5396-25T=)
c.1720-25T=
c.1907-25T= (n.1907-25T=)
c.*5116-25T= (n.*5116-25T=)
c.2021-1516T= (n.2021-1516T=)
c.263-25T= (n.263-25T=)
c.806-25T= (n.806-25T=)
c.32-25T= (n.32-25T=)
n.5469-25T=
n.5510-25T=
17g.43049219A>CCA054563BRCA1c.5330-25T>G (n.5330-25T>G)
c.5333-25T>G (n.5333-25T>G)
c.5207-25T>G (n.5207-25T>G)
c.5327-25T>G (n.5327-25T>G)
c.5255-25T>G (n.5255-25T>G)
c.2021-25T>G (n.2021-25T>G)
c.1883-25T>G (n.1883-25T>G)
c.4445-25T>G (n.4445-25T>G)
c.5210-25T>G (n.5210-25T>G)
c.5399-25T>G (n.5399-25T>G)
c.5192-25T>G (n.5192-25T>G)
c.1895-25T>G (n.1895-25T>G)
n.1191T>G
c.5396-25T>G (n.5396-25T>G)
c.1720-25T>G
c.1907-25T>G (n.1907-25T>G)
c.*5116-25T>G (n.*5116-25T>G)
c.2021-1516T>G (n.2021-1516T>G)
c.263-25T>G (n.263-25T>G)
c.806-25T>G (n.806-25T>G)
c.32-25T>G (n.32-25T>G)
n.5469-25T>G
n.5510-25T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43049219A>TCA2733648012BRCA1c.5330-25T>A (n.5330-25T>A)
c.5333-25T>A (n.5333-25T>A)
c.5207-25T>A (n.5207-25T>A)
c.5327-25T>A (n.5327-25T>A)
c.5255-25T>A (n.5255-25T>A)
c.2021-25T>A (n.2021-25T>A)
c.1883-25T>A (n.1883-25T>A)
c.4445-25T>A (n.4445-25T>A)
c.5210-25T>A (n.5210-25T>A)
c.5399-25T>A (n.5399-25T>A)
c.5192-25T>A (n.5192-25T>A)
c.1895-25T>A (n.1895-25T>A)
n.1191T>A
c.5396-25T>A (n.5396-25T>A)
c.1720-25T>A
c.1907-25T>A (n.1907-25T>A)
c.*5116-25T>A (n.*5116-25T>A)
c.2021-1516T>A (n.2021-1516T>A)
c.263-25T>A (n.263-25T>A)
c.806-25T>A (n.806-25T>A)
c.32-25T>A (n.32-25T>A)
n.5469-25T>A
n.5510-25T>A
 dbSNP
17g.43049220T>ACA2733924889BRCA1c.5330-26A>T (n.5330-26A>T)
c.5333-26A>T (n.5333-26A>T)
c.5207-26A>T (n.5207-26A>T)
c.5327-26A>T (n.5327-26A>T)
c.5255-26A>T (n.5255-26A>T)
c.2021-26A>T (n.2021-26A>T)
c.1883-26A>T (n.1883-26A>T)
c.4445-26A>T (n.4445-26A>T)
c.5210-26A>T (n.5210-26A>T)
c.5399-26A>T (n.5399-26A>T)
c.5192-26A>T (n.5192-26A>T)
c.1895-26A>T (n.1895-26A>T)
n.1190A>T
c.5396-26A>T (n.5396-26A>T)
c.1720-26A>T
c.1907-26A>T (n.1907-26A>T)
c.*5116-26A>T (n.*5116-26A>T)
c.2021-1517A>T (n.2021-1517A>T)
c.263-26A>T (n.263-26A>T)
c.806-26A>T (n.806-26A>T)
c.32-26A>T (n.32-26A>T)
n.5469-26A>T
n.5510-26A>T
 dbSNP
17g.43049221C>ACA2733924940BRCA1c.5330-27G>T (n.5330-27G>T)
c.5333-27G>T (n.5333-27G>T)
c.5207-27G>T (n.5207-27G>T)
c.5327-27G>T (n.5327-27G>T)
c.5255-27G>T (n.5255-27G>T)
c.2021-27G>T (n.2021-27G>T)
c.1883-27G>T (n.1883-27G>T)
c.4445-27G>T (n.4445-27G>T)
c.5210-27G>T (n.5210-27G>T)
c.5399-27G>T (n.5399-27G>T)
c.5192-27G>T (n.5192-27G>T)
c.1895-27G>T (n.1895-27G>T)
n.1189G>T
c.5396-27G>T (n.5396-27G>T)
c.1720-27G>T
c.1907-27G>T (n.1907-27G>T)
c.*5116-27G>T (n.*5116-27G>T)
c.2021-1518G>T (n.2021-1518G>T)
c.263-27G>T (n.263-27G>T)
c.806-27G>T (n.806-27G>T)
c.32-27G>T (n.32-27G>T)
n.5469-27G>T
n.5510-27G>T
 dbSNP
17g.43049221C>GCA2733924950BRCA1c.5330-27G>C (n.5330-27G>C)
c.5333-27G>C (n.5333-27G>C)
c.5207-27G>C (n.5207-27G>C)
c.5327-27G>C (n.5327-27G>C)
c.5255-27G>C (n.5255-27G>C)
c.2021-27G>C (n.2021-27G>C)
c.1883-27G>C (n.1883-27G>C)
c.4445-27G>C (n.4445-27G>C)
c.5210-27G>C (n.5210-27G>C)
c.5399-27G>C (n.5399-27G>C)
c.5192-27G>C (n.5192-27G>C)
c.1895-27G>C (n.1895-27G>C)
n.1189G>C
c.5396-27G>C (n.5396-27G>C)
c.1720-27G>C
c.1907-27G>C (n.1907-27G>C)
c.*5116-27G>C (n.*5116-27G>C)
c.2021-1518G>C (n.2021-1518G>C)
c.263-27G>C (n.263-27G>C)
c.806-27G>C (n.806-27G>C)
c.32-27G>C (n.32-27G>C)
n.5469-27G>C
n.5510-27G>C
 dbSNP
17g.43049222A>GCA2576121594BRCA1c.5330-28T>C (n.5330-28T>C)
c.5333-28T>C (n.5333-28T>C)
c.5207-28T>C (n.5207-28T>C)
c.5327-28T>C (n.5327-28T>C)
c.5255-28T>C (n.5255-28T>C)
c.2021-28T>C (n.2021-28T>C)
c.1883-28T>C (n.1883-28T>C)
c.4445-28T>C (n.4445-28T>C)
c.5210-28T>C (n.5210-28T>C)
c.5399-28T>C (n.5399-28T>C)
c.5192-28T>C (n.5192-28T>C)
c.1895-28T>C (n.1895-28T>C)
n.1188T>C
c.5396-28T>C (n.5396-28T>C)
c.1720-28T>C
c.1907-28T>C (n.1907-28T>C)
c.*5116-28T>C (n.*5116-28T>C)
c.2021-1519T>C (n.2021-1519T>C)
c.263-28T>C (n.263-28T>C)
c.806-28T>C (n.806-28T>C)
c.32-28T>C (n.32-28T>C)
n.5469-28T>C
n.5510-28T>C
17g.43049222A>TCA2733924951BRCA1c.5330-28T>A (n.5330-28T>A)
c.5333-28T>A (n.5333-28T>A)
c.5207-28T>A (n.5207-28T>A)
c.5327-28T>A (n.5327-28T>A)
c.5255-28T>A (n.5255-28T>A)
c.2021-28T>A (n.2021-28T>A)
c.1883-28T>A (n.1883-28T>A)
c.4445-28T>A (n.4445-28T>A)
c.5210-28T>A (n.5210-28T>A)
c.5399-28T>A (n.5399-28T>A)
c.5192-28T>A (n.5192-28T>A)
c.1895-28T>A (n.1895-28T>A)
n.1188T>A
c.5396-28T>A (n.5396-28T>A)
c.1720-28T>A
c.1907-28T>A (n.1907-28T>A)
c.*5116-28T>A (n.*5116-28T>A)
c.2021-1519T>A (n.2021-1519T>A)
c.263-28T>A (n.263-28T>A)
c.806-28T>A (n.806-28T>A)
c.32-28T>A (n.32-28T>A)
n.5469-28T>A
n.5510-28T>A
 dbSNP
17g.43049222_43049223insTCA2638060711BRCA1c.5330-29_5330-28insA (n.5330-29_5330-28insA)
c.5333-29_5333-28insA (n.5333-29_5333-28insA)
c.5207-29_5207-28insA (n.5207-29_5207-28insA)
c.5327-29_5327-28insA (n.5327-29_5327-28insA)
c.5255-29_5255-28insA (n.5255-29_5255-28insA)
c.2021-29_2021-28insA (n.2021-29_2021-28insA)
c.1883-29_1883-28insA (n.1883-29_1883-28insA)
c.4445-29_4445-28insA (n.4445-29_4445-28insA)
c.5210-29_5210-28insA (n.5210-29_5210-28insA)
c.5399-29_5399-28insA (n.5399-29_5399-28insA)
c.5192-29_5192-28insA (n.5192-29_5192-28insA)
c.1895-29_1895-28insA (n.1895-29_1895-28insA)
n.1187_1188insA
c.5396-29_5396-28insA (n.5396-29_5396-28insA)
c.1720-29_1720-28insA
c.1907-29_1907-28insA (n.1907-29_1907-28insA)
c.*5116-29_*5116-28insA (n.*5116-29_*5116-28insA)
c.2021-1520_2021-1519insA (n.2021-1520_2021-1519insA)
c.263-29_263-28insA (n.263-29_263-28insA)
c.806-29_806-28insA (n.806-29_806-28insA)
c.32-29_32-28insA (n.32-29_32-28insA)
n.5469-29_5469-28insA
n.5510-29_5510-28insA
 gnomAD v4
17g.43049223C>ACA2638060710BRCA1c.5330-29G>T (n.5330-29G>T)
c.5333-29G>T (n.5333-29G>T)
c.5207-29G>T (n.5207-29G>T)
c.5327-29G>T (n.5327-29G>T)
c.5255-29G>T (n.5255-29G>T)
c.2021-29G>T (n.2021-29G>T)
c.1883-29G>T (n.1883-29G>T)
c.4445-29G>T (n.4445-29G>T)
c.5210-29G>T (n.5210-29G>T)
c.5399-29G>T (n.5399-29G>T)
c.5192-29G>T (n.5192-29G>T)
c.1895-29G>T (n.1895-29G>T)
n.1187G>T
c.5396-29G>T (n.5396-29G>T)
c.1720-29G>T
c.1907-29G>T (n.1907-29G>T)
c.*5116-29G>T (n.*5116-29G>T)
c.2021-1520G>T (n.2021-1520G>T)
c.263-29G>T (n.263-29G>T)
c.806-29G>T (n.806-29G>T)
c.32-29G>T (n.32-29G>T)
n.5469-29G>T
n.5510-29G>T
 dbSNP gnomAD v4
17g.43049223C>GCA2733924956BRCA1c.5330-29G>C (n.5330-29G>C)
c.5333-29G>C (n.5333-29G>C)
c.5207-29G>C (n.5207-29G>C)
c.5327-29G>C (n.5327-29G>C)
c.5255-29G>C (n.5255-29G>C)
c.2021-29G>C (n.2021-29G>C)
c.1883-29G>C (n.1883-29G>C)
c.4445-29G>C (n.4445-29G>C)
c.5210-29G>C (n.5210-29G>C)
c.5399-29G>C (n.5399-29G>C)
c.5192-29G>C (n.5192-29G>C)
c.1895-29G>C (n.1895-29G>C)
n.1187G>C
c.5396-29G>C (n.5396-29G>C)
c.1720-29G>C
c.1907-29G>C (n.1907-29G>C)
c.*5116-29G>C (n.*5116-29G>C)
c.2021-1520G>C (n.2021-1520G>C)
c.263-29G>C (n.263-29G>C)
c.806-29G>C (n.806-29G>C)
c.32-29G>C (n.32-29G>C)
n.5469-29G>C
n.5510-29G>C
 dbSNP
17g.43049223C>TCA2733924963BRCA1c.5330-29G>A (n.5330-29G>A)
c.5333-29G>A (n.5333-29G>A)
c.5207-29G>A (n.5207-29G>A)
c.5327-29G>A (n.5327-29G>A)
c.5255-29G>A (n.5255-29G>A)
c.2021-29G>A (n.2021-29G>A)
c.1883-29G>A (n.1883-29G>A)
c.4445-29G>A (n.4445-29G>A)
c.5210-29G>A (n.5210-29G>A)
c.5399-29G>A (n.5399-29G>A)
c.5192-29G>A (n.5192-29G>A)
c.1895-29G>A (n.1895-29G>A)
n.1187G>A
c.5396-29G>A (n.5396-29G>A)
c.1720-29G>A
c.1907-29G>A (n.1907-29G>A)
c.*5116-29G>A (n.*5116-29G>A)
c.2021-1520G>A (n.2021-1520G>A)
c.263-29G>A (n.263-29G>A)
c.806-29G>A (n.806-29G>A)
c.32-29G>A (n.32-29G>A)
n.5469-29G>A
n.5510-29G>A
 dbSNP
17g.43049224T>ACA2733656492BRCA1c.5330-30A>T (n.5330-30A>T)
c.5333-30A>T (n.5333-30A>T)
c.5207-30A>T (n.5207-30A>T)
c.5327-30A>T (n.5327-30A>T)
c.5255-30A>T (n.5255-30A>T)
c.2021-30A>T (n.2021-30A>T)
c.1883-30A>T (n.1883-30A>T)
c.4445-30A>T (n.4445-30A>T)
c.5210-30A>T (n.5210-30A>T)
c.5399-30A>T (n.5399-30A>T)
c.5192-30A>T (n.5192-30A>T)
c.1895-30A>T (n.1895-30A>T)
n.1186A>T
c.5396-30A>T (n.5396-30A>T)
c.1720-30A>T
c.1907-30A>T (n.1907-30A>T)
c.*5116-30A>T (n.*5116-30A>T)
c.2021-1521A>T (n.2021-1521A>T)
c.263-30A>T (n.263-30A>T)
c.806-30A>T (n.806-30A>T)
c.32-30A>T (n.32-30A>T)
n.5469-30A>T
n.5510-30A>T
 dbSNP
17g.43049224T>CCA290818231BRCA1c.5330-30A>G (n.5330-30A>G)
c.5333-30A>G (n.5333-30A>G)
c.5207-30A>G (n.5207-30A>G)
c.5327-30A>G (n.5327-30A>G)
c.5255-30A>G (n.5255-30A>G)
c.2021-30A>G (n.2021-30A>G)
c.1883-30A>G (n.1883-30A>G)
c.4445-30A>G (n.4445-30A>G)
c.5210-30A>G (n.5210-30A>G)
c.5399-30A>G (n.5399-30A>G)
c.5192-30A>G (n.5192-30A>G)
c.1895-30A>G (n.1895-30A>G)
n.1186A>G
c.5396-30A>G (n.5396-30A>G)
c.1720-30A>G
c.1907-30A>G (n.1907-30A>G)
c.*5116-30A>G (n.*5116-30A>G)
c.2021-1521A>G (n.2021-1521A>G)
c.263-30A>G (n.263-30A>G)
c.806-30A>G (n.806-30A>G)
c.32-30A>G (n.32-30A>G)
n.5469-30A>G
n.5510-30A>G
 dbSNP gnomAD v4
17g.43049224T=CA2260762821BRCA1c.5330-30A= (n.5330-30A=)
c.5333-30A= (n.5333-30A=)
c.5207-30A= (n.5207-30A=)
c.5327-30A= (n.5327-30A=)
c.5255-30A= (n.5255-30A=)
c.2021-30A= (n.2021-30A=)
c.1883-30A= (n.1883-30A=)
c.4445-30A= (n.4445-30A=)
c.5210-30A= (n.5210-30A=)
c.5399-30A= (n.5399-30A=)
c.5192-30A= (n.5192-30A=)
c.1895-30A= (n.1895-30A=)
n.1186A=
c.5396-30A= (n.5396-30A=)
c.1720-30A=
c.1907-30A= (n.1907-30A=)
c.*5116-30A= (n.*5116-30A=)
c.2021-1521A= (n.2021-1521A=)
c.263-30A= (n.263-30A=)
c.806-30A= (n.806-30A=)
c.32-30A= (n.32-30A=)
n.5469-30A=
n.5510-30A=
17g.43049225G>ACA2733656899BRCA1c.5330-31C>T (n.5330-31C>T)
c.5333-31C>T (n.5333-31C>T)
c.5207-31C>T (n.5207-31C>T)
c.5327-31C>T (n.5327-31C>T)
c.5255-31C>T (n.5255-31C>T)
c.2021-31C>T (n.2021-31C>T)
c.1883-31C>T (n.1883-31C>T)
c.4445-31C>T (n.4445-31C>T)
c.5210-31C>T (n.5210-31C>T)
c.5399-31C>T (n.5399-31C>T)
c.5192-31C>T (n.5192-31C>T)
c.1895-31C>T (n.1895-31C>T)
n.1185C>T
c.5396-31C>T (n.5396-31C>T)
c.1720-31C>T
c.1907-31C>T (n.1907-31C>T)
c.*5116-31C>T (n.*5116-31C>T)
c.2021-1522C>T (n.2021-1522C>T)
c.263-31C>T (n.263-31C>T)
c.806-31C>T (n.806-31C>T)
c.32-31C>T (n.32-31C>T)
n.5469-31C>T
n.5510-31C>T
 dbSNP
17g.43049225G>CCA290818257BRCA1c.5330-31C>G (n.5330-31C>G)
c.5333-31C>G (n.5333-31C>G)
c.5207-31C>G (n.5207-31C>G)
c.5327-31C>G (n.5327-31C>G)
c.5255-31C>G (n.5255-31C>G)
c.2021-31C>G (n.2021-31C>G)
c.1883-31C>G (n.1883-31C>G)
c.4445-31C>G (n.4445-31C>G)
c.5210-31C>G (n.5210-31C>G)
c.5399-31C>G (n.5399-31C>G)
c.5192-31C>G (n.5192-31C>G)
c.1895-31C>G (n.1895-31C>G)
n.1185C>G
c.5396-31C>G (n.5396-31C>G)
c.1720-31C>G
c.1907-31C>G (n.1907-31C>G)
c.*5116-31C>G (n.*5116-31C>G)
c.2021-1522C>G (n.2021-1522C>G)
c.263-31C>G (n.263-31C>G)
c.806-31C>G (n.806-31C>G)
c.32-31C>G (n.32-31C>G)
n.5469-31C>G
n.5510-31C>G
 dbSNP gnomAD v4
17g.43049225G=CA2260762822BRCA1c.5330-31C= (n.5330-31C=)
c.5333-31C= (n.5333-31C=)
c.5207-31C= (n.5207-31C=)
c.5327-31C= (n.5327-31C=)
c.5255-31C= (n.5255-31C=)
c.2021-31C= (n.2021-31C=)
c.1883-31C= (n.1883-31C=)
c.4445-31C= (n.4445-31C=)
c.5210-31C= (n.5210-31C=)
c.5399-31C= (n.5399-31C=)
c.5192-31C= (n.5192-31C=)
c.1895-31C= (n.1895-31C=)
n.1185C=
c.5396-31C= (n.5396-31C=)
c.1720-31C=
c.1907-31C= (n.1907-31C=)
c.*5116-31C= (n.*5116-31C=)
c.2021-1522C= (n.2021-1522C=)
c.263-31C= (n.263-31C=)
c.806-31C= (n.806-31C=)
c.32-31C= (n.32-31C=)
n.5469-31C=
n.5510-31C=
17g.43049225G>TCA2638060712BRCA1c.5330-31C>A (n.5330-31C>A)
c.5333-31C>A (n.5333-31C>A)
c.5207-31C>A (n.5207-31C>A)
c.5327-31C>A (n.5327-31C>A)
c.5255-31C>A (n.5255-31C>A)
c.2021-31C>A (n.2021-31C>A)
c.1883-31C>A (n.1883-31C>A)
c.4445-31C>A (n.4445-31C>A)
c.5210-31C>A (n.5210-31C>A)
c.5399-31C>A (n.5399-31C>A)
c.5192-31C>A (n.5192-31C>A)
c.1895-31C>A (n.1895-31C>A)
n.1185C>A
c.5396-31C>A (n.5396-31C>A)
c.1720-31C>A
c.1907-31C>A (n.1907-31C>A)
c.*5116-31C>A (n.*5116-31C>A)
c.2021-1522C>A (n.2021-1522C>A)
c.263-31C>A (n.263-31C>A)
c.806-31C>A (n.806-31C>A)
c.32-31C>A (n.32-31C>A)
n.5469-31C>A
n.5510-31C>A
 gnomAD v4
17g.43049226C>ACA2733668586BRCA1c.5330-32G>T (n.5330-32G>T)
c.5333-32G>T (n.5333-32G>T)
c.5207-32G>T (n.5207-32G>T)
c.5327-32G>T (n.5327-32G>T)
c.5255-32G>T (n.5255-32G>T)
c.2021-32G>T (n.2021-32G>T)
c.1883-32G>T (n.1883-32G>T)
c.4445-32G>T (n.4445-32G>T)
c.5210-32G>T (n.5210-32G>T)
c.5399-32G>T (n.5399-32G>T)
c.5192-32G>T (n.5192-32G>T)
c.1895-32G>T (n.1895-32G>T)
n.1184G>T
c.5396-32G>T (n.5396-32G>T)
c.1720-32G>T
c.1907-32G>T (n.1907-32G>T)
c.*5116-32G>T (n.*5116-32G>T)
c.2021-1523G>T (n.2021-1523G>T)
c.263-32G>T (n.263-32G>T)
c.806-32G>T (n.806-32G>T)
c.32-32G>T (n.32-32G>T)
n.5469-32G>T
n.5510-32G>T
 dbSNP
17g.43049226C=CA2260762823BRCA1c.5330-32G= (n.5330-32G=)
c.5333-32G= (n.5333-32G=)
c.5207-32G= (n.5207-32G=)
c.5327-32G= (n.5327-32G=)
c.5255-32G= (n.5255-32G=)
c.2021-32G= (n.2021-32G=)
c.1883-32G= (n.1883-32G=)
c.4445-32G= (n.4445-32G=)
c.5210-32G= (n.5210-32G=)
c.5399-32G= (n.5399-32G=)
c.5192-32G= (n.5192-32G=)
c.1895-32G= (n.1895-32G=)
n.1184G=
c.5396-32G= (n.5396-32G=)
c.1720-32G=
c.1907-32G= (n.1907-32G=)
c.*5116-32G= (n.*5116-32G=)
c.2021-1523G= (n.2021-1523G=)
c.263-32G= (n.263-32G=)
c.806-32G= (n.806-32G=)
c.32-32G= (n.32-32G=)
n.5469-32G=
n.5510-32G=
17g.43049226C>GCA2733668587BRCA1c.5330-32G>C (n.5330-32G>C)
c.5333-32G>C (n.5333-32G>C)
c.5207-32G>C (n.5207-32G>C)
c.5327-32G>C (n.5327-32G>C)
c.5255-32G>C (n.5255-32G>C)
c.2021-32G>C (n.2021-32G>C)
c.1883-32G>C (n.1883-32G>C)
c.4445-32G>C (n.4445-32G>C)
c.5210-32G>C (n.5210-32G>C)
c.5399-32G>C (n.5399-32G>C)
c.5192-32G>C (n.5192-32G>C)
c.1895-32G>C (n.1895-32G>C)
n.1184G>C
c.5396-32G>C (n.5396-32G>C)
c.1720-32G>C
c.1907-32G>C (n.1907-32G>C)
c.*5116-32G>C (n.*5116-32G>C)
c.2021-1523G>C (n.2021-1523G>C)
c.263-32G>C (n.263-32G>C)
c.806-32G>C (n.806-32G>C)
c.32-32G>C (n.32-32G>C)
n.5469-32G>C
n.5510-32G>C
 dbSNP
17g.43049226C>TCA626076635BRCA1c.5330-32G>A (n.5330-32G>A)
c.5333-32G>A (n.5333-32G>A)
c.5207-32G>A (n.5207-32G>A)
c.5327-32G>A (n.5327-32G>A)
c.5255-32G>A (n.5255-32G>A)
c.2021-32G>A (n.2021-32G>A)
c.1883-32G>A (n.1883-32G>A)
c.4445-32G>A (n.4445-32G>A)
c.5210-32G>A (n.5210-32G>A)
c.5399-32G>A (n.5399-32G>A)
c.5192-32G>A (n.5192-32G>A)
c.1895-32G>A (n.1895-32G>A)
n.1184G>A
c.5396-32G>A (n.5396-32G>A)
c.1720-32G>A
c.1907-32G>A (n.1907-32G>A)
c.*5116-32G>A (n.*5116-32G>A)
c.2021-1523G>A (n.2021-1523G>A)
c.263-32G>A (n.263-32G>A)
c.806-32G>A (n.806-32G>A)
c.32-32G>A (n.32-32G>A)
n.5469-32G>A
n.5510-32G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43049227A=CA2260762824BRCA1c.5330-33T= (n.5330-33T=)
c.5333-33T= (n.5333-33T=)
c.5207-33T= (n.5207-33T=)
c.5327-33T= (n.5327-33T=)
c.5255-33T= (n.5255-33T=)
c.2021-33T= (n.2021-33T=)
c.1883-33T= (n.1883-33T=)
c.4445-33T= (n.4445-33T=)
c.5210-33T= (n.5210-33T=)
c.5399-33T= (n.5399-33T=)
c.5192-33T= (n.5192-33T=)
c.1895-33T= (n.1895-33T=)
n.1183T=
c.5396-33T= (n.5396-33T=)
c.1720-33T=
c.1907-33T= (n.1907-33T=)
c.*5116-33T= (n.*5116-33T=)
c.2021-1524T= (n.2021-1524T=)
c.263-33T= (n.263-33T=)
c.806-33T= (n.806-33T=)
c.32-33T= (n.32-33T=)
n.5469-33T=
n.5510-33T=
17g.43049227A>GCA2733676567BRCA1c.5330-33T>C (n.5330-33T>C)
c.5333-33T>C (n.5333-33T>C)
c.5207-33T>C (n.5207-33T>C)
c.5327-33T>C (n.5327-33T>C)
c.5255-33T>C (n.5255-33T>C)
c.2021-33T>C (n.2021-33T>C)
c.1883-33T>C (n.1883-33T>C)
c.4445-33T>C (n.4445-33T>C)
c.5210-33T>C (n.5210-33T>C)
c.5399-33T>C (n.5399-33T>C)
c.5192-33T>C (n.5192-33T>C)
c.1895-33T>C (n.1895-33T>C)
n.1183T>C
c.5396-33T>C (n.5396-33T>C)
c.1720-33T>C
c.1907-33T>C (n.1907-33T>C)
c.*5116-33T>C (n.*5116-33T>C)
c.2021-1524T>C (n.2021-1524T>C)
c.263-33T>C (n.263-33T>C)
c.806-33T>C (n.806-33T>C)
c.32-33T>C (n.32-33T>C)
n.5469-33T>C
n.5510-33T>C
 dbSNP
17g.43049227A>TCA656358825BRCA1c.5330-33T>A (n.5330-33T>A)
c.5333-33T>A (n.5333-33T>A)
c.5207-33T>A (n.5207-33T>A)
c.5327-33T>A (n.5327-33T>A)
c.5255-33T>A (n.5255-33T>A)
c.2021-33T>A (n.2021-33T>A)
c.1883-33T>A (n.1883-33T>A)
c.4445-33T>A (n.4445-33T>A)
c.5210-33T>A (n.5210-33T>A)
c.5399-33T>A (n.5399-33T>A)
c.5192-33T>A (n.5192-33T>A)
c.1895-33T>A (n.1895-33T>A)
n.1183T>A
c.5396-33T>A (n.5396-33T>A)
c.1720-33T>A
c.1907-33T>A (n.1907-33T>A)
c.*5116-33T>A (n.*5116-33T>A)
c.2021-1524T>A (n.2021-1524T>A)
c.263-33T>A (n.263-33T>A)
c.806-33T>A (n.806-33T>A)
c.32-33T>A (n.32-33T>A)
n.5469-33T>A
n.5510-33T>A
 dbSNP COSMIC
17g.43049228G>ACA2260762826BRCA1c.5330-34C>T (n.5330-34C>T)
c.5333-34C>T (n.5333-34C>T)
c.5207-34C>T (n.5207-34C>T)
c.5327-34C>T (n.5327-34C>T)
c.5255-34C>T (n.5255-34C>T)
c.2021-34C>T (n.2021-34C>T)
c.1883-34C>T (n.1883-34C>T)
c.4445-34C>T (n.4445-34C>T)
c.5210-34C>T (n.5210-34C>T)
c.5399-34C>T (n.5399-34C>T)
c.5192-34C>T (n.5192-34C>T)
c.1895-34C>T (n.1895-34C>T)
n.1182C>T
c.5396-34C>T (n.5396-34C>T)
c.1720-34C>T
c.1907-34C>T (n.1907-34C>T)
c.*5116-34C>T (n.*5116-34C>T)
c.2021-1525C>T (n.2021-1525C>T)
c.263-34C>T (n.263-34C>T)
c.806-34C>T (n.806-34C>T)
c.32-34C>T (n.32-34C>T)
n.5469-34C>T
n.5510-34C>T
 dbSNP
17g.43049228G=CA2260762825BRCA1c.5330-34C= (n.5330-34C=)
c.5333-34C= (n.5333-34C=)
c.5207-34C= (n.5207-34C=)
c.5327-34C= (n.5327-34C=)
c.5255-34C= (n.5255-34C=)
c.2021-34C= (n.2021-34C=)
c.1883-34C= (n.1883-34C=)
c.4445-34C= (n.4445-34C=)
c.5210-34C= (n.5210-34C=)
c.5399-34C= (n.5399-34C=)
c.5192-34C= (n.5192-34C=)
c.1895-34C= (n.1895-34C=)
n.1182C=
c.5396-34C= (n.5396-34C=)
c.1720-34C=
c.1907-34C= (n.1907-34C=)
c.*5116-34C= (n.*5116-34C=)
c.2021-1525C= (n.2021-1525C=)
c.263-34C= (n.263-34C=)
c.806-34C= (n.806-34C=)
c.32-34C= (n.32-34C=)
n.5469-34C=
n.5510-34C=
17g.43049228_43049229insATCA2638060713BRCA1c.5330-35_5330-34insAT (n.5330-35_5330-34insAT)
c.5333-35_5333-34insAT (n.5333-35_5333-34insAT)
c.5207-35_5207-34insAT (n.5207-35_5207-34insAT)
c.5327-35_5327-34insAT (n.5327-35_5327-34insAT)
c.5255-35_5255-34insAT (n.5255-35_5255-34insAT)
c.2021-35_2021-34insAT (n.2021-35_2021-34insAT)
c.1883-35_1883-34insAT (n.1883-35_1883-34insAT)
c.4445-35_4445-34insAT (n.4445-35_4445-34insAT)
c.5210-35_5210-34insAT (n.5210-35_5210-34insAT)
c.5399-35_5399-34insAT (n.5399-35_5399-34insAT)
c.5192-35_5192-34insAT (n.5192-35_5192-34insAT)
c.1895-35_1895-34insAT (n.1895-35_1895-34insAT)
n.1181_1182insAT
c.5396-35_5396-34insAT (n.5396-35_5396-34insAT)
c.1720-35_1720-34insAT
c.1907-35_1907-34insAT (n.1907-35_1907-34insAT)
c.*5116-35_*5116-34insAT (n.*5116-35_*5116-34insAT)
c.2021-1526_2021-1525insAT (n.2021-1526_2021-1525insAT)
c.263-35_263-34insAT (n.263-35_263-34insAT)
c.806-35_806-34insAT (n.806-35_806-34insAT)
c.32-35_32-34insAT (n.32-35_32-34insAT)
n.5469-35_5469-34insAT
n.5510-35_5510-34insAT
 gnomAD v4
17g.43049228_43049229insATTACTGCAGTGATCA2638060714BRCA1c.5330-35_5330-34insATCACTGCAGTAAT (n.5330-35_5330-34insATCACTGCAGTAAT)
c.5333-35_5333-34insATCACTGCAGTAAT (n.5333-35_5333-34insATCACTGCAGTAAT)
c.5207-35_5207-34insATCACTGCAGTAAT (n.5207-35_5207-34insATCACTGCAGTAAT)
c.5327-35_5327-34insATCACTGCAGTAAT (n.5327-35_5327-34insATCACTGCAGTAAT)
c.5255-35_5255-34insATCACTGCAGTAAT (n.5255-35_5255-34insATCACTGCAGTAAT)
c.2021-35_2021-34insATCACTGCAGTAAT (n.2021-35_2021-34insATCACTGCAGTAAT)
c.1883-35_1883-34insATCACTGCAGTAAT (n.1883-35_1883-34insATCACTGCAGTAAT)
c.4445-35_4445-34insATCACTGCAGTAAT (n.4445-35_4445-34insATCACTGCAGTAAT)
c.5210-35_5210-34insATCACTGCAGTAAT (n.5210-35_5210-34insATCACTGCAGTAAT)
c.5399-35_5399-34insATCACTGCAGTAAT (n.5399-35_5399-34insATCACTGCAGTAAT)
c.5192-35_5192-34insATCACTGCAGTAAT (n.5192-35_5192-34insATCACTGCAGTAAT)
c.1895-35_1895-34insATCACTGCAGTAAT (n.1895-35_1895-34insATCACTGCAGTAAT)
n.1181_1182insATCACTGCAGTAAT
c.5396-35_5396-34insATCACTGCAGTAAT (n.5396-35_5396-34insATCACTGCAGTAAT)
c.1720-35_1720-34insATCACTGCAGTAAT
c.1907-35_1907-34insATCACTGCAGTAAT (n.1907-35_1907-34insATCACTGCAGTAAT)
c.*5116-35_*5116-34insATCACTGCAGTAAT (n.*5116-35_*5116-34insATCACTGCAGTAAT)
c.2021-1526_2021-1525insATCACTGCAGTAAT (n.2021-1526_2021-1525insATCACTGCAGTAAT)
c.263-35_263-34insATCACTGCAGTAAT (n.263-35_263-34insATCACTGCAGTAAT)
c.806-35_806-34insATCACTGCAGTAAT (n.806-35_806-34insATCACTGCAGTAAT)
c.32-35_32-34insATCACTGCAGTAAT (n.32-35_32-34insATCACTGCAGTAAT)
n.5469-35_5469-34insATCACTGCAGTAAT
n.5510-35_5510-34insATCACTGCAGTAAT
 gnomAD v4
17g.43049229T>ACA2733647714BRCA1c.5330-35A>T (n.5330-35A>T)
c.5333-35A>T (n.5333-35A>T)
c.5207-35A>T (n.5207-35A>T)
c.5327-35A>T (n.5327-35A>T)
c.5255-35A>T (n.5255-35A>T)
c.2021-35A>T (n.2021-35A>T)
c.1883-35A>T (n.1883-35A>T)
c.4445-35A>T (n.4445-35A>T)
c.5210-35A>T (n.5210-35A>T)
c.5399-35A>T (n.5399-35A>T)
c.5192-35A>T (n.5192-35A>T)
c.1895-35A>T (n.1895-35A>T)
n.1181A>T
c.5396-35A>T (n.5396-35A>T)
c.1720-35A>T
c.1907-35A>T (n.1907-35A>T)
c.*5116-35A>T (n.*5116-35A>T)
c.2021-1526A>T (n.2021-1526A>T)
c.263-35A>T (n.263-35A>T)
c.806-35A>T (n.806-35A>T)
c.32-35A>T (n.32-35A>T)
n.5469-35A>T
n.5510-35A>T
 dbSNP
17g.43049229T>CCA2733647716BRCA1c.5330-35A>G (n.5330-35A>G)
c.5333-35A>G (n.5333-35A>G)
c.5207-35A>G (n.5207-35A>G)
c.5327-35A>G (n.5327-35A>G)
c.5255-35A>G (n.5255-35A>G)
c.2021-35A>G (n.2021-35A>G)
c.1883-35A>G (n.1883-35A>G)
c.4445-35A>G (n.4445-35A>G)
c.5210-35A>G (n.5210-35A>G)
c.5399-35A>G (n.5399-35A>G)
c.5192-35A>G (n.5192-35A>G)
c.1895-35A>G (n.1895-35A>G)
n.1181A>G
c.5396-35A>G (n.5396-35A>G)
c.1720-35A>G
c.1907-35A>G (n.1907-35A>G)
c.*5116-35A>G (n.*5116-35A>G)
c.2021-1526A>G (n.2021-1526A>G)
c.263-35A>G (n.263-35A>G)
c.806-35A>G (n.806-35A>G)
c.32-35A>G (n.32-35A>G)
n.5469-35A>G
n.5510-35A>G
 dbSNP
17g.43049229T>GCA290818271BRCA1c.5330-35A>C (n.5330-35A>C)
c.5333-35A>C (n.5333-35A>C)
c.5207-35A>C (n.5207-35A>C)
c.5327-35A>C (n.5327-35A>C)
c.5255-35A>C (n.5255-35A>C)
c.2021-35A>C (n.2021-35A>C)
c.1883-35A>C (n.1883-35A>C)
c.4445-35A>C (n.4445-35A>C)
c.5210-35A>C (n.5210-35A>C)
c.5399-35A>C (n.5399-35A>C)
c.5192-35A>C (n.5192-35A>C)
c.1895-35A>C (n.1895-35A>C)
n.1181A>C
c.5396-35A>C (n.5396-35A>C)
c.1720-35A>C
c.1907-35A>C (n.1907-35A>C)
c.*5116-35A>C (n.*5116-35A>C)
c.2021-1526A>C (n.2021-1526A>C)
c.263-35A>C (n.263-35A>C)
c.806-35A>C (n.806-35A>C)
c.32-35A>C (n.32-35A>C)
n.5469-35A>C
n.5510-35A>C
 ClinVar dbSNP gnomAD v4
17g.43049229T=CA2260762827BRCA1c.5330-35A= (n.5330-35A=)
c.5333-35A= (n.5333-35A=)
c.5207-35A= (n.5207-35A=)
c.5327-35A= (n.5327-35A=)
c.5255-35A= (n.5255-35A=)
c.2021-35A= (n.2021-35A=)
c.1883-35A= (n.1883-35A=)
c.4445-35A= (n.4445-35A=)
c.5210-35A= (n.5210-35A=)
c.5399-35A= (n.5399-35A=)
c.5192-35A= (n.5192-35A=)
c.1895-35A= (n.1895-35A=)
n.1181A=
c.5396-35A= (n.5396-35A=)
c.1720-35A=
c.1907-35A= (n.1907-35A=)
c.*5116-35A= (n.*5116-35A=)
c.2021-1526A= (n.2021-1526A=)
c.263-35A= (n.263-35A=)
c.806-35A= (n.806-35A=)
c.32-35A= (n.32-35A=)
n.5469-35A=
n.5510-35A=
17g.43049230A=CA2260762828BRCA1c.5330-36T= (n.5330-36T=)
c.5333-36T= (n.5333-36T=)
c.5207-36T= (n.5207-36T=)
c.5327-36T= (n.5327-36T=)
c.5255-36T= (n.5255-36T=)
c.2021-36T= (n.2021-36T=)
c.1883-36T= (n.1883-36T=)
c.4445-36T= (n.4445-36T=)
c.5210-36T= (n.5210-36T=)
c.5399-36T= (n.5399-36T=)
c.5192-36T= (n.5192-36T=)
c.1895-36T= (n.1895-36T=)
n.1180T=
c.5396-36T= (n.5396-36T=)
c.1720-36T=
c.1907-36T= (n.1907-36T=)
c.*5116-36T= (n.*5116-36T=)
c.2021-1527T= (n.2021-1527T=)
c.263-36T= (n.263-36T=)
c.806-36T= (n.806-36T=)
c.32-36T= (n.32-36T=)
n.5469-36T=
n.5510-36T=
17g.43049230A>CCA772166843BRCA1c.5330-36T>G (n.5330-36T>G)
c.5333-36T>G (n.5333-36T>G)
c.5207-36T>G (n.5207-36T>G)
c.5327-36T>G (n.5327-36T>G)
c.5255-36T>G (n.5255-36T>G)
c.2021-36T>G (n.2021-36T>G)
c.1883-36T>G (n.1883-36T>G)
c.4445-36T>G (n.4445-36T>G)
c.5210-36T>G (n.5210-36T>G)
c.5399-36T>G (n.5399-36T>G)
c.5192-36T>G (n.5192-36T>G)
c.1895-36T>G (n.1895-36T>G)
n.1180T>G
c.5396-36T>G (n.5396-36T>G)
c.1720-36T>G
c.1907-36T>G (n.1907-36T>G)
c.*5116-36T>G (n.*5116-36T>G)
c.2021-1527T>G (n.2021-1527T>G)
c.263-36T>G (n.263-36T>G)
c.806-36T>G (n.806-36T>G)
c.32-36T>G (n.32-36T>G)
n.5469-36T>G
n.5510-36T>G
 dbSNP gnomAD v3 gnomAD v4
17g.43049230A>GCA2638060715BRCA1c.5330-36T>C (n.5330-36T>C)
c.5333-36T>C (n.5333-36T>C)
c.5207-36T>C (n.5207-36T>C)
c.5327-36T>C (n.5327-36T>C)
c.5255-36T>C (n.5255-36T>C)
c.2021-36T>C (n.2021-36T>C)
c.1883-36T>C (n.1883-36T>C)
c.4445-36T>C (n.4445-36T>C)
c.5210-36T>C (n.5210-36T>C)
c.5399-36T>C (n.5399-36T>C)
c.5192-36T>C (n.5192-36T>C)
c.1895-36T>C (n.1895-36T>C)
n.1180T>C
c.5396-36T>C (n.5396-36T>C)
c.1720-36T>C
c.1907-36T>C (n.1907-36T>C)
c.*5116-36T>C (n.*5116-36T>C)
c.2021-1527T>C (n.2021-1527T>C)
c.263-36T>C (n.263-36T>C)
c.806-36T>C (n.806-36T>C)
c.32-36T>C (n.32-36T>C)
n.5469-36T>C
n.5510-36T>C
 gnomAD v4
17g.43049230_43049231insCTGCAGTGCA2638060716BRCA1c.5330-37_5330-36insCACTGCAG (n.5330-37_5330-36insCACTGCAG)
c.5333-37_5333-36insCACTGCAG (n.5333-37_5333-36insCACTGCAG)
c.5207-37_5207-36insCACTGCAG (n.5207-37_5207-36insCACTGCAG)
c.5327-37_5327-36insCACTGCAG (n.5327-37_5327-36insCACTGCAG)
c.5255-37_5255-36insCACTGCAG (n.5255-37_5255-36insCACTGCAG)
c.2021-37_2021-36insCACTGCAG (n.2021-37_2021-36insCACTGCAG)
c.1883-37_1883-36insCACTGCAG (n.1883-37_1883-36insCACTGCAG)
c.4445-37_4445-36insCACTGCAG (n.4445-37_4445-36insCACTGCAG)
c.5210-37_5210-36insCACTGCAG (n.5210-37_5210-36insCACTGCAG)
c.5399-37_5399-36insCACTGCAG (n.5399-37_5399-36insCACTGCAG)
c.5192-37_5192-36insCACTGCAG (n.5192-37_5192-36insCACTGCAG)
c.1895-37_1895-36insCACTGCAG (n.1895-37_1895-36insCACTGCAG)
n.1179_1180insCACTGCAG
c.5396-37_5396-36insCACTGCAG (n.5396-37_5396-36insCACTGCAG)
c.1720-37_1720-36insCACTGCAG
c.1907-37_1907-36insCACTGCAG (n.1907-37_1907-36insCACTGCAG)
c.*5116-37_*5116-36insCACTGCAG (n.*5116-37_*5116-36insCACTGCAG)
c.2021-1528_2021-1527insCACTGCAG (n.2021-1528_2021-1527insCACTGCAG)
c.263-37_263-36insCACTGCAG (n.263-37_263-36insCACTGCAG)
c.806-37_806-36insCACTGCAG (n.806-37_806-36insCACTGCAG)
c.32-37_32-36insCACTGCAG (n.32-37_32-36insCACTGCAG)
n.5469-37_5469-36insCACTGCAG
n.5510-37_5510-36insCACTGCAG
 gnomAD v4
17g.43049231A>CCA2638060717BRCA1c.5330-37T>G (n.5330-37T>G)
c.5333-37T>G (n.5333-37T>G)
c.5207-37T>G (n.5207-37T>G)
c.5327-37T>G (n.5327-37T>G)
c.5255-37T>G (n.5255-37T>G)
c.2021-37T>G (n.2021-37T>G)
c.1883-37T>G (n.1883-37T>G)
c.4445-37T>G (n.4445-37T>G)
c.5210-37T>G (n.5210-37T>G)
c.5399-37T>G (n.5399-37T>G)
c.5192-37T>G (n.5192-37T>G)
c.1895-37T>G (n.1895-37T>G)
n.1179T>G
c.5396-37T>G (n.5396-37T>G)
c.1720-37T>G
c.1907-37T>G (n.1907-37T>G)
c.*5116-37T>G (n.*5116-37T>G)
c.2021-1528T>G (n.2021-1528T>G)
c.263-37T>G (n.263-37T>G)
c.806-37T>G (n.806-37T>G)
c.32-37T>G (n.32-37T>G)
n.5469-37T>G
n.5510-37T>G
 dbSNP gnomAD v4

Number of alleles fetched