Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43044924_43051621del | CA2580093785 | BRCA1 | c.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 |
17 | g.43045658_43051137del | CA915940399 | BRCA1 | c.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 | |
17 | g.43045678_43051117del | CA2581463401 | BRCA1 | c.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 | |
17 | g.43047300_43054953dup | CA16043343 | BRCA1 | c.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 | |
17 | g.43047679_43049196del | CA913203498 | BRCA1 | c.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 | |
17 | g.43047831_43051609delinsCCACTATCTCTGCTCACTGCAACCTTCACCTCCCAAGTTCAAACCTTGTTCAATTCTTGTGCCTTGGCCTCCCAAGTGGCTAGGATTACAGGCATGTGCCACAACAACTAGCTAATTTTTTGTCTGATTCTGTTGGCCAGTCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGTCTCCAGCTCCCAGGTTCAAGTGATTCTCGTGCCTTAGCCTCCCAAATAGCTGGGATTAC | CA1139665550 | BRCA1 | c.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 |
17 | g.43048600_43054827del | CA913191183 | BRCA1 | c.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 |
17 | g.43048720_43049230del | CA2499224351 | BRCA1 | c.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 |
17 | g.43048720_43049230delinsCATGTTGGCCAGGCTGGTCTCAAACTCCTGACAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCATGCCCAGCCTCCAGCCCATCATTTCTTGATGATTTGTTGAAACACAGTATGCTGGGGCAGTCACAGAGAGGAGGGGGAGGGACATATGGGAAAAAGAGTTAGAGGGAAAAAGTCTTCCCTCAGTATATTTAATATGTGCAGTTCTCAAATCCTTACCCATCCCTTACAGATGGAGTCTTTTGGCACAGGTATGTGGGCAGAGAAGACTTCTGAGGCTACAGTAGGGGCATCCATAGGGACTGACAGGTGCCAGTCTTGCTCACAGGAGAGAATATTGTGTCCTCCCTCTCTGACAGGGCACCCAATACTTACTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTA | CA2260762519 | BRCA1 | c.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 | |
17 | g.43048723_43049232del | CA10602571 | BRCA1 | c.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 |
17 | g.43049087_43049088del | CA2638060682 | BRCA1 | c.5403+36_5403+37del (n.5403+36_5403+37del) c.5406+36_5406+37del (n.5406+36_5406+37del) c.5280+36_5280+37del (n.5280+36_5280+37del) c.5400+36_5400+37del (n.5400+36_5400+37del) c.5328+36_5328+37del (n.5328+36_5328+37del) c.2094+36_2094+37del (n.2094+36_2094+37del) c.1956+36_1956+37del (n.1956+36_1956+37del) c.4518+36_4518+37del (n.4518+36_4518+37del) c.5283+36_5283+37del (n.5283+36_5283+37del) c.5472+36_5472+37del (n.5472+36_5472+37del) c.5265+36_5265+37del (n.5265+36_5265+37del) c.1968+36_1968+37del (n.1968+36_1968+37del) n.1289+36_1289+37del c.5469+36_5469+37del (n.5469+36_5469+37del) c.1793+36_1793+37del c.1980+36_1980+37del (n.1980+36_1980+37del) c.*5189+36_*5189+37del (n.*5189+36_*5189+37del) c.2021-1382_2021-1381del (n.2021-1382_2021-1381del) c.336+36_336+37del (n.336+36_336+37del) c.879+36_879+37del (n.879+36_879+37del) c.105+36_105+37del (n.105+36_105+37del) n.5542+36_5542+37del n.5583+36_5583+37del | dbSNP gnomAD v4 |
17 | g.43049088T>A | CA003555 | BRCA1 | c.5403+33A>T (n.5403+33A>T) c.5406+33A>T (n.5406+33A>T) c.5280+33A>T (n.5280+33A>T) c.5400+33A>T (n.5400+33A>T) c.5328+33A>T (n.5328+33A>T) c.2094+33A>T (n.2094+33A>T) c.1956+33A>T (n.1956+33A>T) c.4518+33A>T (n.4518+33A>T) c.5283+33A>T (n.5283+33A>T) c.5472+33A>T (n.5472+33A>T) c.5265+33A>T (n.5265+33A>T) c.1968+33A>T (n.1968+33A>T) n.1289+33A>T c.5469+33A>T (n.5469+33A>T) c.1793+33A>T c.1980+33A>T (n.1980+33A>T) c.*5189+33A>T (n.*5189+33A>T) c.2021-1385A>T (n.2021-1385A>T) c.336+33A>T (n.336+33A>T) c.879+33A>T (n.879+33A>T) c.105+33A>T (n.105+33A>T) n.5542+33A>T n.5583+33A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.43049088T= | CA2260762671 | BRCA1 | c.5403+33A= (n.5403+33A=) c.5406+33A= (n.5406+33A=) c.5280+33A= (n.5280+33A=) c.5400+33A= (n.5400+33A=) c.5328+33A= (n.5328+33A=) c.2094+33A= (n.2094+33A=) c.1956+33A= (n.1956+33A=) c.4518+33A= (n.4518+33A=) c.5283+33A= (n.5283+33A=) c.5472+33A= (n.5472+33A=) c.5265+33A= (n.5265+33A=) c.1968+33A= (n.1968+33A=) n.1289+33A= c.5469+33A= (n.5469+33A=) c.1793+33A= c.1980+33A= (n.1980+33A=) c.*5189+33A= (n.*5189+33A=) c.2021-1385A= (n.2021-1385A=) c.336+33A= (n.336+33A=) c.879+33A= (n.879+33A=) c.105+33A= (n.105+33A=) n.5542+33A= n.5583+33A= | |
17 | g.43049089C>A | CA2733924710 | BRCA1 | c.5403+32G>T (n.5403+32G>T) c.5406+32G>T (n.5406+32G>T) c.5280+32G>T (n.5280+32G>T) c.5400+32G>T (n.5400+32G>T) c.5328+32G>T (n.5328+32G>T) c.2094+32G>T (n.2094+32G>T) c.1956+32G>T (n.1956+32G>T) c.4518+32G>T (n.4518+32G>T) c.5283+32G>T (n.5283+32G>T) c.5472+32G>T (n.5472+32G>T) c.5265+32G>T (n.5265+32G>T) c.1968+32G>T (n.1968+32G>T) n.1289+32G>T c.5469+32G>T (n.5469+32G>T) c.1793+32G>T c.1980+32G>T (n.1980+32G>T) c.*5189+32G>T (n.*5189+32G>T) c.2021-1386G>T (n.2021-1386G>T) c.336+32G>T (n.336+32G>T) c.879+32G>T (n.879+32G>T) c.105+32G>T (n.105+32G>T) n.5542+32G>T n.5583+32G>T | dbSNP |
17 | g.43049089C= | CA2260762672 | BRCA1 | c.5403+32G= (n.5403+32G=) c.5406+32G= (n.5406+32G=) c.5280+32G= (n.5280+32G=) c.5400+32G= (n.5400+32G=) c.5328+32G= (n.5328+32G=) c.2094+32G= (n.2094+32G=) c.1956+32G= (n.1956+32G=) c.4518+32G= (n.4518+32G=) c.5283+32G= (n.5283+32G=) c.5472+32G= (n.5472+32G=) c.5265+32G= (n.5265+32G=) c.1968+32G= (n.1968+32G=) n.1289+32G= c.5469+32G= (n.5469+32G=) c.1793+32G= c.1980+32G= (n.1980+32G=) c.*5189+32G= (n.*5189+32G=) c.2021-1386G= (n.2021-1386G=) c.336+32G= (n.336+32G=) c.879+32G= (n.879+32G=) c.105+32G= (n.105+32G=) n.5542+32G= n.5583+32G= | |
17 | g.43049089C>G | CA2733924709 | BRCA1 | c.5403+32G>C (n.5403+32G>C) c.5406+32G>C (n.5406+32G>C) c.5280+32G>C (n.5280+32G>C) c.5400+32G>C (n.5400+32G>C) c.5328+32G>C (n.5328+32G>C) c.2094+32G>C (n.2094+32G>C) c.1956+32G>C (n.1956+32G>C) c.4518+32G>C (n.4518+32G>C) c.5283+32G>C (n.5283+32G>C) c.5472+32G>C (n.5472+32G>C) c.5265+32G>C (n.5265+32G>C) c.1968+32G>C (n.1968+32G>C) n.1289+32G>C c.5469+32G>C (n.5469+32G>C) c.1793+32G>C c.1980+32G>C (n.1980+32G>C) c.*5189+32G>C (n.*5189+32G>C) c.2021-1386G>C (n.2021-1386G>C) c.336+32G>C (n.336+32G>C) c.879+32G>C (n.879+32G>C) c.105+32G>C (n.105+32G>C) n.5542+32G>C n.5583+32G>C | dbSNP |
17 | g.43049089C>T | CA2733924711 | BRCA1 | c.5403+32G>A (n.5403+32G>A) c.5406+32G>A (n.5406+32G>A) c.5280+32G>A (n.5280+32G>A) c.5400+32G>A (n.5400+32G>A) c.5328+32G>A (n.5328+32G>A) c.2094+32G>A (n.2094+32G>A) c.1956+32G>A (n.1956+32G>A) c.4518+32G>A (n.4518+32G>A) c.5283+32G>A (n.5283+32G>A) c.5472+32G>A (n.5472+32G>A) c.5265+32G>A (n.5265+32G>A) c.1968+32G>A (n.1968+32G>A) n.1289+32G>A c.5469+32G>A (n.5469+32G>A) c.1793+32G>A c.1980+32G>A (n.1980+32G>A) c.*5189+32G>A (n.*5189+32G>A) c.2021-1386G>A (n.2021-1386G>A) c.336+32G>A (n.336+32G>A) c.879+32G>A (n.879+32G>A) c.105+32G>A (n.105+32G>A) n.5542+32G>A n.5583+32G>A | dbSNP |
17 | g.43049089_43049090insT | CA919844189 | BRCA1 | c.5403+31_5403+32insA (n.5403+31_5403+32insA) c.5406+31_5406+32insA (n.5406+31_5406+32insA) c.5280+31_5280+32insA (n.5280+31_5280+32insA) c.5400+31_5400+32insA (n.5400+31_5400+32insA) c.5328+31_5328+32insA (n.5328+31_5328+32insA) c.2094+31_2094+32insA (n.2094+31_2094+32insA) c.1956+31_1956+32insA (n.1956+31_1956+32insA) c.4518+31_4518+32insA (n.4518+31_4518+32insA) c.5283+31_5283+32insA (n.5283+31_5283+32insA) c.5472+31_5472+32insA (n.5472+31_5472+32insA) c.5265+31_5265+32insA (n.5265+31_5265+32insA) c.1968+31_1968+32insA (n.1968+31_1968+32insA) n.1289+31_1289+32insA c.5469+31_5469+32insA (n.5469+31_5469+32insA) c.1793+31_1793+32insA c.1980+31_1980+32insA (n.1980+31_1980+32insA) c.*5189+31_*5189+32insA (n.*5189+31_*5189+32insA) c.2021-1387_2021-1386insA (n.2021-1387_2021-1386insA) c.336+31_336+32insA (n.336+31_336+32insA) c.879+31_879+32insA (n.879+31_879+32insA) c.105+31_105+32insA (n.105+31_105+32insA) n.5542+31_5542+32insA n.5583+31_5583+32insA | dbSNP |
17 | g.43049090C>G | CA2733924715 | BRCA1 | c.5403+31G>C (n.5403+31G>C) c.5406+31G>C (n.5406+31G>C) c.5280+31G>C (n.5280+31G>C) c.5400+31G>C (n.5400+31G>C) c.5328+31G>C (n.5328+31G>C) c.2094+31G>C (n.2094+31G>C) c.1956+31G>C (n.1956+31G>C) c.4518+31G>C (n.4518+31G>C) c.5283+31G>C (n.5283+31G>C) c.5472+31G>C (n.5472+31G>C) c.5265+31G>C (n.5265+31G>C) c.1968+31G>C (n.1968+31G>C) n.1289+31G>C c.5469+31G>C (n.5469+31G>C) c.1793+31G>C c.1980+31G>C (n.1980+31G>C) c.*5189+31G>C (n.*5189+31G>C) c.2021-1387G>C (n.2021-1387G>C) c.336+31G>C (n.336+31G>C) c.879+31G>C (n.879+31G>C) c.105+31G>C (n.105+31G>C) n.5542+31G>C n.5583+31G>C | dbSNP |
17 | g.43049090C>T | CA2695226109 | BRCA1 | c.5403+31G>A (n.5403+31G>A) c.5406+31G>A (n.5406+31G>A) c.5280+31G>A (n.5280+31G>A) c.5400+31G>A (n.5400+31G>A) c.5328+31G>A (n.5328+31G>A) c.2094+31G>A (n.2094+31G>A) c.1956+31G>A (n.1956+31G>A) c.4518+31G>A (n.4518+31G>A) c.5283+31G>A (n.5283+31G>A) c.5472+31G>A (n.5472+31G>A) c.5265+31G>A (n.5265+31G>A) c.1968+31G>A (n.1968+31G>A) n.1289+31G>A c.5469+31G>A (n.5469+31G>A) c.1793+31G>A c.1980+31G>A (n.1980+31G>A) c.*5189+31G>A (n.*5189+31G>A) c.2021-1387G>A (n.2021-1387G>A) c.336+31G>A (n.336+31G>A) c.879+31G>A (n.879+31G>A) c.105+31G>A (n.105+31G>A) n.5542+31G>A n.5583+31G>A | dbSNP |
17 | g.43049091T>C | CA2576121593 | BRCA1 | c.5403+30A>G (n.5403+30A>G) c.5406+30A>G (n.5406+30A>G) c.5280+30A>G (n.5280+30A>G) c.5400+30A>G (n.5400+30A>G) c.5328+30A>G (n.5328+30A>G) c.2094+30A>G (n.2094+30A>G) c.1956+30A>G (n.1956+30A>G) c.4518+30A>G (n.4518+30A>G) c.5283+30A>G (n.5283+30A>G) c.5472+30A>G (n.5472+30A>G) c.5265+30A>G (n.5265+30A>G) c.1968+30A>G (n.1968+30A>G) n.1289+30A>G c.5469+30A>G (n.5469+30A>G) c.1793+30A>G c.1980+30A>G (n.1980+30A>G) c.*5189+30A>G (n.*5189+30A>G) c.2021-1388A>G (n.2021-1388A>G) c.336+30A>G (n.336+30A>G) c.879+30A>G (n.879+30A>G) c.105+30A>G (n.105+30A>G) n.5542+30A>G n.5583+30A>G | dbSNP |
17 | g.43049092C>A | CA2733671340 | BRCA1 | c.5403+29G>T (n.5403+29G>T) c.5406+29G>T (n.5406+29G>T) c.5280+29G>T (n.5280+29G>T) c.5400+29G>T (n.5400+29G>T) c.5328+29G>T (n.5328+29G>T) c.2094+29G>T (n.2094+29G>T) c.1956+29G>T (n.1956+29G>T) c.4518+29G>T (n.4518+29G>T) c.5283+29G>T (n.5283+29G>T) c.5472+29G>T (n.5472+29G>T) c.5265+29G>T (n.5265+29G>T) c.1968+29G>T (n.1968+29G>T) n.1289+29G>T c.5469+29G>T (n.5469+29G>T) c.1793+29G>T c.1980+29G>T (n.1980+29G>T) c.*5189+29G>T (n.*5189+29G>T) c.2021-1389G>T (n.2021-1389G>T) c.336+29G>T (n.336+29G>T) c.879+29G>T (n.879+29G>T) c.105+29G>T (n.105+29G>T) n.5542+29G>T n.5583+29G>T | dbSNP |
17 | g.43049092C= | CA2260762673 | BRCA1 | c.5403+29G= (n.5403+29G=) c.5406+29G= (n.5406+29G=) c.5280+29G= (n.5280+29G=) c.5400+29G= (n.5400+29G=) c.5328+29G= (n.5328+29G=) c.2094+29G= (n.2094+29G=) c.1956+29G= (n.1956+29G=) c.4518+29G= (n.4518+29G=) c.5283+29G= (n.5283+29G=) c.5472+29G= (n.5472+29G=) c.5265+29G= (n.5265+29G=) c.1968+29G= (n.1968+29G=) n.1289+29G= c.5469+29G= (n.5469+29G=) c.1793+29G= c.1980+29G= (n.1980+29G=) c.*5189+29G= (n.*5189+29G=) c.2021-1389G= (n.2021-1389G=) c.336+29G= (n.336+29G=) c.879+29G= (n.879+29G=) c.105+29G= (n.105+29G=) n.5542+29G= n.5583+29G= | |
17 | g.43049092C>G | CA2733671339 | BRCA1 | c.5403+29G>C (n.5403+29G>C) c.5406+29G>C (n.5406+29G>C) c.5280+29G>C (n.5280+29G>C) c.5400+29G>C (n.5400+29G>C) c.5328+29G>C (n.5328+29G>C) c.2094+29G>C (n.2094+29G>C) c.1956+29G>C (n.1956+29G>C) c.4518+29G>C (n.4518+29G>C) c.5283+29G>C (n.5283+29G>C) c.5472+29G>C (n.5472+29G>C) c.5265+29G>C (n.5265+29G>C) c.1968+29G>C (n.1968+29G>C) n.1289+29G>C c.5469+29G>C (n.5469+29G>C) c.1793+29G>C c.1980+29G>C (n.1980+29G>C) c.*5189+29G>C (n.*5189+29G>C) c.2021-1389G>C (n.2021-1389G>C) c.336+29G>C (n.336+29G>C) c.879+29G>C (n.879+29G>C) c.105+29G>C (n.105+29G>C) n.5542+29G>C n.5583+29G>C | dbSNP |
17 | g.43049092C>T | CA626076618 | BRCA1 | c.5403+29G>A (n.5403+29G>A) c.5406+29G>A (n.5406+29G>A) c.5280+29G>A (n.5280+29G>A) c.5400+29G>A (n.5400+29G>A) c.5328+29G>A (n.5328+29G>A) c.2094+29G>A (n.2094+29G>A) c.1956+29G>A (n.1956+29G>A) c.4518+29G>A (n.4518+29G>A) c.5283+29G>A (n.5283+29G>A) c.5472+29G>A (n.5472+29G>A) c.5265+29G>A (n.5265+29G>A) c.1968+29G>A (n.1968+29G>A) n.1289+29G>A c.5469+29G>A (n.5469+29G>A) c.1793+29G>A c.1980+29G>A (n.1980+29G>A) c.*5189+29G>A (n.*5189+29G>A) c.2021-1389G>A (n.2021-1389G>A) c.336+29G>A (n.336+29G>A) c.879+29G>A (n.879+29G>A) c.105+29G>A (n.105+29G>A) n.5542+29G>A n.5583+29G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43049093C>A | CA2638060685 | BRCA1 | c.5403+28G>T (n.5403+28G>T) c.5406+28G>T (n.5406+28G>T) c.5280+28G>T (n.5280+28G>T) c.5400+28G>T (n.5400+28G>T) c.5328+28G>T (n.5328+28G>T) c.2094+28G>T (n.2094+28G>T) c.1956+28G>T (n.1956+28G>T) c.4518+28G>T (n.4518+28G>T) c.5283+28G>T (n.5283+28G>T) c.5472+28G>T (n.5472+28G>T) c.5265+28G>T (n.5265+28G>T) c.1968+28G>T (n.1968+28G>T) n.1289+28G>T c.5469+28G>T (n.5469+28G>T) c.1793+28G>T c.1980+28G>T (n.1980+28G>T) c.*5189+28G>T (n.*5189+28G>T) c.2021-1390G>T (n.2021-1390G>T) c.336+28G>T (n.336+28G>T) c.879+28G>T (n.879+28G>T) c.105+28G>T (n.105+28G>T) n.5542+28G>T n.5583+28G>T | dbSNP gnomAD v4 |
17 | g.43049093C= | CA2260762675 | BRCA1 | c.5403+28G= (n.5403+28G=) c.5406+28G= (n.5406+28G=) c.5280+28G= (n.5280+28G=) c.5400+28G= (n.5400+28G=) c.5328+28G= (n.5328+28G=) c.2094+28G= (n.2094+28G=) c.1956+28G= (n.1956+28G=) c.4518+28G= (n.4518+28G=) c.5283+28G= (n.5283+28G=) c.5472+28G= (n.5472+28G=) c.5265+28G= (n.5265+28G=) c.1968+28G= (n.1968+28G=) n.1289+28G= c.5469+28G= (n.5469+28G=) c.1793+28G= c.1980+28G= (n.1980+28G=) c.*5189+28G= (n.*5189+28G=) c.2021-1390G= (n.2021-1390G=) c.336+28G= (n.336+28G=) c.879+28G= (n.879+28G=) c.105+28G= (n.105+28G=) n.5542+28G= n.5583+28G= | |
17 | g.43049093C>T | CA626076619 | BRCA1 | c.5403+28G>A (n.5403+28G>A) c.5406+28G>A (n.5406+28G>A) c.5280+28G>A (n.5280+28G>A) c.5400+28G>A (n.5400+28G>A) c.5328+28G>A (n.5328+28G>A) c.2094+28G>A (n.2094+28G>A) c.1956+28G>A (n.1956+28G>A) c.4518+28G>A (n.4518+28G>A) c.5283+28G>A (n.5283+28G>A) c.5472+28G>A (n.5472+28G>A) c.5265+28G>A (n.5265+28G>A) c.1968+28G>A (n.1968+28G>A) n.1289+28G>A c.5469+28G>A (n.5469+28G>A) c.1793+28G>A c.1980+28G>A (n.1980+28G>A) c.*5189+28G>A (n.*5189+28G>A) c.2021-1390G>A (n.2021-1390G>A) c.336+28G>A (n.336+28G>A) c.879+28G>A (n.879+28G>A) c.105+28G>A (n.105+28G>A) n.5542+28G>A n.5583+28G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43049093_43049097delinsCCTCT | CA2260762674 | BRCA1 | c.5403+24_5403+28delinsAGAGG (n.5403+24_5403+28delinsAGAGG) c.5406+24_5406+28delinsAGAGG (n.5406+24_5406+28delinsAGAGG) c.5280+24_5280+28delinsAGAGG (n.5280+24_5280+28delinsAGAGG) c.5400+24_5400+28delinsAGAGG (n.5400+24_5400+28delinsAGAGG) c.5328+24_5328+28delinsAGAGG (n.5328+24_5328+28delinsAGAGG) c.2094+24_2094+28delinsAGAGG (n.2094+24_2094+28delinsAGAGG) c.1956+24_1956+28delinsAGAGG (n.1956+24_1956+28delinsAGAGG) c.4518+24_4518+28delinsAGAGG (n.4518+24_4518+28delinsAGAGG) c.5283+24_5283+28delinsAGAGG (n.5283+24_5283+28delinsAGAGG) c.5472+24_5472+28delinsAGAGG (n.5472+24_5472+28delinsAGAGG) c.5265+24_5265+28delinsAGAGG (n.5265+24_5265+28delinsAGAGG) c.1968+24_1968+28delinsAGAGG (n.1968+24_1968+28delinsAGAGG) n.1289+24_1289+28delinsAGAGG c.5469+24_5469+28delinsAGAGG (n.5469+24_5469+28delinsAGAGG) c.1793+24_1793+28delinsAGAGG c.1980+24_1980+28delinsAGAGG (n.1980+24_1980+28delinsAGAGG) c.*5189+24_*5189+28delinsAGAGG (n.*5189+24_*5189+28delinsAGAGG) c.2021-1394_2021-1390delinsAGAGG (n.2021-1394_2021-1390delinsAGAGG) c.336+24_336+28delinsAGAGG (n.336+24_336+28delinsAGAGG) c.879+24_879+28delinsAGAGG (n.879+24_879+28delinsAGAGG) c.105+24_105+28delinsAGAGG (n.105+24_105+28delinsAGAGG) n.5542+24_5542+28delinsAGAGG n.5583+24_5583+28delinsAGAGG | |
17 | g.43049094C>A | CA626076620 | BRCA1 | c.5403+27G>T (n.5403+27G>T) c.5406+27G>T (n.5406+27G>T) c.5280+27G>T (n.5280+27G>T) c.5400+27G>T (n.5400+27G>T) c.5328+27G>T (n.5328+27G>T) c.2094+27G>T (n.2094+27G>T) c.1956+27G>T (n.1956+27G>T) c.4518+27G>T (n.4518+27G>T) c.5283+27G>T (n.5283+27G>T) c.5472+27G>T (n.5472+27G>T) c.5265+27G>T (n.5265+27G>T) c.1968+27G>T (n.1968+27G>T) n.1289+27G>T c.5469+27G>T (n.5469+27G>T) c.1793+27G>T c.1980+27G>T (n.1980+27G>T) c.*5189+27G>T (n.*5189+27G>T) c.2021-1391G>T (n.2021-1391G>T) c.336+27G>T (n.336+27G>T) c.879+27G>T (n.879+27G>T) c.105+27G>T (n.105+27G>T) n.5542+27G>T n.5583+27G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43049094C= | CA2260762676 | BRCA1 | c.5403+27G= (n.5403+27G=) c.5406+27G= (n.5406+27G=) c.5280+27G= (n.5280+27G=) c.5400+27G= (n.5400+27G=) c.5328+27G= (n.5328+27G=) c.2094+27G= (n.2094+27G=) c.1956+27G= (n.1956+27G=) c.4518+27G= (n.4518+27G=) c.5283+27G= (n.5283+27G=) c.5472+27G= (n.5472+27G=) c.5265+27G= (n.5265+27G=) c.1968+27G= (n.1968+27G=) n.1289+27G= c.5469+27G= (n.5469+27G=) c.1793+27G= c.1980+27G= (n.1980+27G=) c.*5189+27G= (n.*5189+27G=) c.2021-1391G= (n.2021-1391G=) c.336+27G= (n.336+27G=) c.879+27G= (n.879+27G=) c.105+27G= (n.105+27G=) n.5542+27G= n.5583+27G= | |
17 | g.43049094C>T | CA2638060686 | BRCA1 | c.5403+27G>A (n.5403+27G>A) c.5406+27G>A (n.5406+27G>A) c.5280+27G>A (n.5280+27G>A) c.5400+27G>A (n.5400+27G>A) c.5328+27G>A (n.5328+27G>A) c.2094+27G>A (n.2094+27G>A) c.1956+27G>A (n.1956+27G>A) c.4518+27G>A (n.4518+27G>A) c.5283+27G>A (n.5283+27G>A) c.5472+27G>A (n.5472+27G>A) c.5265+27G>A (n.5265+27G>A) c.1968+27G>A (n.1968+27G>A) n.1289+27G>A c.5469+27G>A (n.5469+27G>A) c.1793+27G>A c.1980+27G>A (n.1980+27G>A) c.*5189+27G>A (n.*5189+27G>A) c.2021-1391G>A (n.2021-1391G>A) c.336+27G>A (n.336+27G>A) c.879+27G>A (n.879+27G>A) c.105+27G>A (n.105+27G>A) n.5542+27G>A n.5583+27G>A | gnomAD v4 |
17 | g.43049096_43049099del | CA054859 | BRCA1 | c.5403+24_5403+27del (n.5403+24_5403+27del) c.5406+24_5406+27del (n.5406+24_5406+27del) c.5280+24_5280+27del (n.5280+24_5280+27del) c.5400+24_5400+27del (n.5400+24_5400+27del) c.5328+24_5328+27del (n.5328+24_5328+27del) c.2094+24_2094+27del (n.2094+24_2094+27del) c.1956+24_1956+27del (n.1956+24_1956+27del) c.4518+24_4518+27del (n.4518+24_4518+27del) c.5283+24_5283+27del (n.5283+24_5283+27del) c.5472+24_5472+27del (n.5472+24_5472+27del) c.5265+24_5265+27del (n.5265+24_5265+27del) c.1968+24_1968+27del (n.1968+24_1968+27del) n.1289+24_1289+27del c.5469+24_5469+27del (n.5469+24_5469+27del) c.1793+24_1793+27del c.1980+24_1980+27del (n.1980+24_1980+27del) c.*5189+24_*5189+27del (n.*5189+24_*5189+27del) c.2021-1394_2021-1391del (n.2021-1394_2021-1391del) c.336+24_336+27del (n.336+24_336+27del) c.879+24_879+27del (n.879+24_879+27del) c.105+24_105+27del (n.105+24_105+27del) n.5542+24_5542+27del n.5583+24_5583+27del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43049095T>A | CA2638060687 | BRCA1 | c.5403+26A>T (n.5403+26A>T) c.5406+26A>T (n.5406+26A>T) c.5280+26A>T (n.5280+26A>T) c.5400+26A>T (n.5400+26A>T) c.5328+26A>T (n.5328+26A>T) c.2094+26A>T (n.2094+26A>T) c.1956+26A>T (n.1956+26A>T) c.4518+26A>T (n.4518+26A>T) c.5283+26A>T (n.5283+26A>T) c.5472+26A>T (n.5472+26A>T) c.5265+26A>T (n.5265+26A>T) c.1968+26A>T (n.1968+26A>T) n.1289+26A>T c.5469+26A>T (n.5469+26A>T) c.1793+26A>T c.1980+26A>T (n.1980+26A>T) c.*5189+26A>T (n.*5189+26A>T) c.2021-1392A>T (n.2021-1392A>T) c.336+26A>T (n.336+26A>T) c.879+26A>T (n.879+26A>T) c.105+26A>T (n.105+26A>T) n.5542+26A>T n.5583+26A>T | dbSNP gnomAD v4 |
17 | g.43049095T>C | CA2733924719 | BRCA1 | c.5403+26A>G (n.5403+26A>G) c.5406+26A>G (n.5406+26A>G) c.5280+26A>G (n.5280+26A>G) c.5400+26A>G (n.5400+26A>G) c.5328+26A>G (n.5328+26A>G) c.2094+26A>G (n.2094+26A>G) c.1956+26A>G (n.1956+26A>G) c.4518+26A>G (n.4518+26A>G) c.5283+26A>G (n.5283+26A>G) c.5472+26A>G (n.5472+26A>G) c.5265+26A>G (n.5265+26A>G) c.1968+26A>G (n.1968+26A>G) n.1289+26A>G c.5469+26A>G (n.5469+26A>G) c.1793+26A>G c.1980+26A>G (n.1980+26A>G) c.*5189+26A>G (n.*5189+26A>G) c.2021-1392A>G (n.2021-1392A>G) c.336+26A>G (n.336+26A>G) c.879+26A>G (n.879+26A>G) c.105+26A>G (n.105+26A>G) n.5542+26A>G n.5583+26A>G | dbSNP |
17 | g.43049096C>A | CA2733692418 | BRCA1 | c.5403+25G>T (n.5403+25G>T) c.5406+25G>T (n.5406+25G>T) c.5280+25G>T (n.5280+25G>T) c.5400+25G>T (n.5400+25G>T) c.5328+25G>T (n.5328+25G>T) c.2094+25G>T (n.2094+25G>T) c.1956+25G>T (n.1956+25G>T) c.4518+25G>T (n.4518+25G>T) c.5283+25G>T (n.5283+25G>T) c.5472+25G>T (n.5472+25G>T) c.5265+25G>T (n.5265+25G>T) c.1968+25G>T (n.1968+25G>T) n.1289+25G>T c.5469+25G>T (n.5469+25G>T) c.1793+25G>T c.1980+25G>T (n.1980+25G>T) c.*5189+25G>T (n.*5189+25G>T) c.2021-1393G>T (n.2021-1393G>T) c.336+25G>T (n.336+25G>T) c.879+25G>T (n.879+25G>T) c.105+25G>T (n.105+25G>T) n.5542+25G>T n.5583+25G>T | dbSNP |
17 | g.43049096C= | CA2260762677 | BRCA1 | c.5403+25G= (n.5403+25G=) c.5406+25G= (n.5406+25G=) c.5280+25G= (n.5280+25G=) c.5400+25G= (n.5400+25G=) c.5328+25G= (n.5328+25G=) c.2094+25G= (n.2094+25G=) c.1956+25G= (n.1956+25G=) c.4518+25G= (n.4518+25G=) c.5283+25G= (n.5283+25G=) c.5472+25G= (n.5472+25G=) c.5265+25G= (n.5265+25G=) c.1968+25G= (n.1968+25G=) n.1289+25G= c.5469+25G= (n.5469+25G=) c.1793+25G= c.1980+25G= (n.1980+25G=) c.*5189+25G= (n.*5189+25G=) c.2021-1393G= (n.2021-1393G=) c.336+25G= (n.336+25G=) c.879+25G= (n.879+25G=) c.105+25G= (n.105+25G=) n.5542+25G= n.5583+25G= | |
17 | g.43049096C>G | CA2638060688 | BRCA1 | c.5403+25G>C (n.5403+25G>C) c.5406+25G>C (n.5406+25G>C) c.5280+25G>C (n.5280+25G>C) c.5400+25G>C (n.5400+25G>C) c.5328+25G>C (n.5328+25G>C) c.2094+25G>C (n.2094+25G>C) c.1956+25G>C (n.1956+25G>C) c.4518+25G>C (n.4518+25G>C) c.5283+25G>C (n.5283+25G>C) c.5472+25G>C (n.5472+25G>C) c.5265+25G>C (n.5265+25G>C) c.1968+25G>C (n.1968+25G>C) n.1289+25G>C c.5469+25G>C (n.5469+25G>C) c.1793+25G>C c.1980+25G>C (n.1980+25G>C) c.*5189+25G>C (n.*5189+25G>C) c.2021-1393G>C (n.2021-1393G>C) c.336+25G>C (n.336+25G>C) c.879+25G>C (n.879+25G>C) c.105+25G>C (n.105+25G>C) n.5542+25G>C n.5583+25G>C | dbSNP gnomAD v4 |
17 | g.43049096C>T | CA2260762678 | BRCA1 | c.5403+25G>A (n.5403+25G>A) c.5406+25G>A (n.5406+25G>A) c.5280+25G>A (n.5280+25G>A) c.5400+25G>A (n.5400+25G>A) c.5328+25G>A (n.5328+25G>A) c.2094+25G>A (n.2094+25G>A) c.1956+25G>A (n.1956+25G>A) c.4518+25G>A (n.4518+25G>A) c.5283+25G>A (n.5283+25G>A) c.5472+25G>A (n.5472+25G>A) c.5265+25G>A (n.5265+25G>A) c.1968+25G>A (n.1968+25G>A) n.1289+25G>A c.5469+25G>A (n.5469+25G>A) c.1793+25G>A c.1980+25G>A (n.1980+25G>A) c.*5189+25G>A (n.*5189+25G>A) c.2021-1393G>A (n.2021-1393G>A) c.336+25G>A (n.336+25G>A) c.879+25G>A (n.879+25G>A) c.105+25G>A (n.105+25G>A) n.5542+25G>A n.5583+25G>A | dbSNP gnomAD v4 |
17 | g.43049097T>C | CA2260762680 | BRCA1 | c.5403+24A>G (n.5403+24A>G) c.5406+24A>G (n.5406+24A>G) c.5280+24A>G (n.5280+24A>G) c.5400+24A>G (n.5400+24A>G) c.5328+24A>G (n.5328+24A>G) c.2094+24A>G (n.2094+24A>G) c.1956+24A>G (n.1956+24A>G) c.4518+24A>G (n.4518+24A>G) c.5283+24A>G (n.5283+24A>G) c.5472+24A>G (n.5472+24A>G) c.5265+24A>G (n.5265+24A>G) c.1968+24A>G (n.1968+24A>G) n.1289+24A>G c.5469+24A>G (n.5469+24A>G) c.1793+24A>G c.1980+24A>G (n.1980+24A>G) c.*5189+24A>G (n.*5189+24A>G) c.2021-1394A>G (n.2021-1394A>G) c.336+24A>G (n.336+24A>G) c.879+24A>G (n.879+24A>G) c.105+24A>G (n.105+24A>G) n.5542+24A>G n.5583+24A>G | dbSNP |
17 | g.43049097T= | CA2260762679 | BRCA1 | c.5403+24A= (n.5403+24A=) c.5406+24A= (n.5406+24A=) c.5280+24A= (n.5280+24A=) c.5400+24A= (n.5400+24A=) c.5328+24A= (n.5328+24A=) c.2094+24A= (n.2094+24A=) c.1956+24A= (n.1956+24A=) c.4518+24A= (n.4518+24A=) c.5283+24A= (n.5283+24A=) c.5472+24A= (n.5472+24A=) c.5265+24A= (n.5265+24A=) c.1968+24A= (n.1968+24A=) n.1289+24A= c.5469+24A= (n.5469+24A=) c.1793+24A= c.1980+24A= (n.1980+24A=) c.*5189+24A= (n.*5189+24A=) c.2021-1394A= (n.2021-1394A=) c.336+24A= (n.336+24A=) c.879+24A= (n.879+24A=) c.105+24A= (n.105+24A=) n.5542+24A= n.5583+24A= | |
17 | g.43049098C>A | CA2638060689 | BRCA1 | c.5403+23G>T (n.5403+23G>T) c.5406+23G>T (n.5406+23G>T) c.5280+23G>T (n.5280+23G>T) c.5400+23G>T (n.5400+23G>T) c.5328+23G>T (n.5328+23G>T) c.2094+23G>T (n.2094+23G>T) c.1956+23G>T (n.1956+23G>T) c.4518+23G>T (n.4518+23G>T) c.5283+23G>T (n.5283+23G>T) c.5472+23G>T (n.5472+23G>T) c.5265+23G>T (n.5265+23G>T) c.1968+23G>T (n.1968+23G>T) n.1289+23G>T c.5469+23G>T (n.5469+23G>T) c.1793+23G>T c.1980+23G>T (n.1980+23G>T) c.*5189+23G>T (n.*5189+23G>T) c.2021-1395G>T (n.2021-1395G>T) c.336+23G>T (n.336+23G>T) c.879+23G>T (n.879+23G>T) c.105+23G>T (n.105+23G>T) n.5542+23G>T n.5583+23G>T | dbSNP gnomAD v4 |
17 | g.43049098C= | CA2260762681 | BRCA1 | c.5403+23G= (n.5403+23G=) c.5406+23G= (n.5406+23G=) c.5280+23G= (n.5280+23G=) c.5400+23G= (n.5400+23G=) c.5328+23G= (n.5328+23G=) c.2094+23G= (n.2094+23G=) c.1956+23G= (n.1956+23G=) c.4518+23G= (n.4518+23G=) c.5283+23G= (n.5283+23G=) c.5472+23G= (n.5472+23G=) c.5265+23G= (n.5265+23G=) c.1968+23G= (n.1968+23G=) n.1289+23G= c.5469+23G= (n.5469+23G=) c.1793+23G= c.1980+23G= (n.1980+23G=) c.*5189+23G= (n.*5189+23G=) c.2021-1395G= (n.2021-1395G=) c.336+23G= (n.336+23G=) c.879+23G= (n.879+23G=) c.105+23G= (n.105+23G=) n.5542+23G= n.5583+23G= | |
17 | g.43049098C>G | CA2260762682 | BRCA1 | c.5403+23G>C (n.5403+23G>C) c.5406+23G>C (n.5406+23G>C) c.5280+23G>C (n.5280+23G>C) c.5400+23G>C (n.5400+23G>C) c.5328+23G>C (n.5328+23G>C) c.2094+23G>C (n.2094+23G>C) c.1956+23G>C (n.1956+23G>C) c.4518+23G>C (n.4518+23G>C) c.5283+23G>C (n.5283+23G>C) c.5472+23G>C (n.5472+23G>C) c.5265+23G>C (n.5265+23G>C) c.1968+23G>C (n.1968+23G>C) n.1289+23G>C c.5469+23G>C (n.5469+23G>C) c.1793+23G>C c.1980+23G>C (n.1980+23G>C) c.*5189+23G>C (n.*5189+23G>C) c.2021-1395G>C (n.2021-1395G>C) c.336+23G>C (n.336+23G>C) c.879+23G>C (n.879+23G>C) c.105+23G>C (n.105+23G>C) n.5542+23G>C n.5583+23G>C | dbSNP |
17 | g.43049098C>T | CA2733692419 | BRCA1 | c.5403+23G>A (n.5403+23G>A) c.5406+23G>A (n.5406+23G>A) c.5280+23G>A (n.5280+23G>A) c.5400+23G>A (n.5400+23G>A) c.5328+23G>A (n.5328+23G>A) c.2094+23G>A (n.2094+23G>A) c.1956+23G>A (n.1956+23G>A) c.4518+23G>A (n.4518+23G>A) c.5283+23G>A (n.5283+23G>A) c.5472+23G>A (n.5472+23G>A) c.5265+23G>A (n.5265+23G>A) c.1968+23G>A (n.1968+23G>A) n.1289+23G>A c.5469+23G>A (n.5469+23G>A) c.1793+23G>A c.1980+23G>A (n.1980+23G>A) c.*5189+23G>A (n.*5189+23G>A) c.2021-1395G>A (n.2021-1395G>A) c.336+23G>A (n.336+23G>A) c.879+23G>A (n.879+23G>A) c.105+23G>A (n.105+23G>A) n.5542+23G>A n.5583+23G>A | dbSNP |
17 | g.43049099dup | CA2638060690 | BRCA1 | c.5403+22dup (n.5403+22dup) c.5406+22dup (n.5406+22dup) c.5280+22dup (n.5280+22dup) c.5400+22dup (n.5400+22dup) c.5328+22dup (n.5328+22dup) c.2094+22dup (n.2094+22dup) c.1956+22dup (n.1956+22dup) c.4518+22dup (n.4518+22dup) c.5283+22dup (n.5283+22dup) c.5472+22dup (n.5472+22dup) c.5265+22dup (n.5265+22dup) c.1968+22dup (n.1968+22dup) n.1289+22dup c.5469+22dup (n.5469+22dup) c.1793+22dup c.1980+22dup (n.1980+22dup) c.*5189+22dup (n.*5189+22dup) c.2021-1396dup (n.2021-1396dup) c.336+22dup (n.336+22dup) c.879+22dup (n.879+22dup) c.105+22dup (n.105+22dup) n.5542+22dup n.5583+22dup | gnomAD v4 |
17 | g.43049100G>A | CA2638060691 | BRCA1 | c.5403+21C>T (n.5403+21C>T) c.5406+21C>T (n.5406+21C>T) c.5280+21C>T (n.5280+21C>T) c.5400+21C>T (n.5400+21C>T) c.5328+21C>T (n.5328+21C>T) c.2094+21C>T (n.2094+21C>T) c.1956+21C>T (n.1956+21C>T) c.4518+21C>T (n.4518+21C>T) c.5283+21C>T (n.5283+21C>T) c.5472+21C>T (n.5472+21C>T) c.5265+21C>T (n.5265+21C>T) c.1968+21C>T (n.1968+21C>T) n.1289+21C>T c.5469+21C>T (n.5469+21C>T) c.1793+21C>T c.1980+21C>T (n.1980+21C>T) c.*5189+21C>T (n.*5189+21C>T) c.2021-1397C>T (n.2021-1397C>T) c.336+21C>T (n.336+21C>T) c.879+21C>T (n.879+21C>T) c.105+21C>T (n.105+21C>T) n.5542+21C>T n.5583+21C>T | dbSNP gnomAD v4 |
17 | g.43049100G>C | CA054851 | BRCA1 | c.5403+21C>G (n.5403+21C>G) c.5406+21C>G (n.5406+21C>G) c.5280+21C>G (n.5280+21C>G) c.5400+21C>G (n.5400+21C>G) c.5328+21C>G (n.5328+21C>G) c.2094+21C>G (n.2094+21C>G) c.1956+21C>G (n.1956+21C>G) c.4518+21C>G (n.4518+21C>G) c.5283+21C>G (n.5283+21C>G) c.5472+21C>G (n.5472+21C>G) c.5265+21C>G (n.5265+21C>G) c.1968+21C>G (n.1968+21C>G) n.1289+21C>G c.5469+21C>G (n.5469+21C>G) c.1793+21C>G c.1980+21C>G (n.1980+21C>G) c.*5189+21C>G (n.*5189+21C>G) c.2021-1397C>G (n.2021-1397C>G) c.336+21C>G (n.336+21C>G) c.879+21C>G (n.879+21C>G) c.105+21C>G (n.105+21C>G) n.5542+21C>G n.5583+21C>G | dbSNP ExAC |
17 | g.43049100G= | CA2260762683 | BRCA1 | c.5403+21C= (n.5403+21C=) c.5406+21C= (n.5406+21C=) c.5280+21C= (n.5280+21C=) c.5400+21C= (n.5400+21C=) c.5328+21C= (n.5328+21C=) c.2094+21C= (n.2094+21C=) c.1956+21C= (n.1956+21C=) c.4518+21C= (n.4518+21C=) c.5283+21C= (n.5283+21C=) c.5472+21C= (n.5472+21C=) c.5265+21C= (n.5265+21C=) c.1968+21C= (n.1968+21C=) n.1289+21C= c.5469+21C= (n.5469+21C=) c.1793+21C= c.1980+21C= (n.1980+21C=) c.*5189+21C= (n.*5189+21C=) c.2021-1397C= (n.2021-1397C=) c.336+21C= (n.336+21C=) c.879+21C= (n.879+21C=) c.105+21C= (n.105+21C=) n.5542+21C= n.5583+21C= | |
17 | g.43049100G>T | CA2638060692 | BRCA1 | c.5403+21C>A (n.5403+21C>A) c.5406+21C>A (n.5406+21C>A) c.5280+21C>A (n.5280+21C>A) c.5400+21C>A (n.5400+21C>A) c.5328+21C>A (n.5328+21C>A) c.2094+21C>A (n.2094+21C>A) c.1956+21C>A (n.1956+21C>A) c.4518+21C>A (n.4518+21C>A) c.5283+21C>A (n.5283+21C>A) c.5472+21C>A (n.5472+21C>A) c.5265+21C>A (n.5265+21C>A) c.1968+21C>A (n.1968+21C>A) n.1289+21C>A c.5469+21C>A (n.5469+21C>A) c.1793+21C>A c.1980+21C>A (n.1980+21C>A) c.*5189+21C>A (n.*5189+21C>A) c.2021-1397C>A (n.2021-1397C>A) c.336+21C>A (n.336+21C>A) c.879+21C>A (n.879+21C>A) c.105+21C>A (n.105+21C>A) n.5542+21C>A n.5583+21C>A | gnomAD v4 |
17 | g.43049101A>C | CA2733924753 | BRCA1 | c.5403+20T>G (n.5403+20T>G) c.5406+20T>G (n.5406+20T>G) c.5280+20T>G (n.5280+20T>G) c.5400+20T>G (n.5400+20T>G) c.5328+20T>G (n.5328+20T>G) c.2094+20T>G (n.2094+20T>G) c.1956+20T>G (n.1956+20T>G) c.4518+20T>G (n.4518+20T>G) c.5283+20T>G (n.5283+20T>G) c.5472+20T>G (n.5472+20T>G) c.5265+20T>G (n.5265+20T>G) c.1968+20T>G (n.1968+20T>G) n.1289+20T>G c.5469+20T>G (n.5469+20T>G) c.1793+20T>G c.1980+20T>G (n.1980+20T>G) c.*5189+20T>G (n.*5189+20T>G) c.2021-1398T>G (n.2021-1398T>G) c.336+20T>G (n.336+20T>G) c.879+20T>G (n.879+20T>G) c.105+20T>G (n.105+20T>G) n.5542+20T>G n.5583+20T>G | dbSNP |
17 | g.43049101A>T | CA2733924754 | BRCA1 | c.5403+20T>A (n.5403+20T>A) c.5406+20T>A (n.5406+20T>A) c.5280+20T>A (n.5280+20T>A) c.5400+20T>A (n.5400+20T>A) c.5328+20T>A (n.5328+20T>A) c.2094+20T>A (n.2094+20T>A) c.1956+20T>A (n.1956+20T>A) c.4518+20T>A (n.4518+20T>A) c.5283+20T>A (n.5283+20T>A) c.5472+20T>A (n.5472+20T>A) c.5265+20T>A (n.5265+20T>A) c.1968+20T>A (n.1968+20T>A) n.1289+20T>A c.5469+20T>A (n.5469+20T>A) c.1793+20T>A c.1980+20T>A (n.1980+20T>A) c.*5189+20T>A (n.*5189+20T>A) c.2021-1398T>A (n.2021-1398T>A) c.336+20T>A (n.336+20T>A) c.879+20T>A (n.879+20T>A) c.105+20T>A (n.105+20T>A) n.5542+20T>A n.5583+20T>A | dbSNP |
17 | g.43049102C= | CA2260762684 | BRCA1 | c.5403+19G= (n.5403+19G=) c.5406+19G= (n.5406+19G=) c.5280+19G= (n.5280+19G=) c.5400+19G= (n.5400+19G=) c.5328+19G= (n.5328+19G=) c.2094+19G= (n.2094+19G=) c.1956+19G= (n.1956+19G=) c.4518+19G= (n.4518+19G=) c.5283+19G= (n.5283+19G=) c.5472+19G= (n.5472+19G=) c.5265+19G= (n.5265+19G=) c.1968+19G= (n.1968+19G=) n.1289+19G= c.5469+19G= (n.5469+19G=) c.1793+19G= c.1980+19G= (n.1980+19G=) c.*5189+19G= (n.*5189+19G=) c.2021-1399G= (n.2021-1399G=) c.336+19G= (n.336+19G=) c.879+19G= (n.879+19G=) c.105+19G= (n.105+19G=) n.5542+19G= n.5583+19G= | |
17 | g.43049102C>G | CA2499224352 | BRCA1 | c.5403+19G>C (n.5403+19G>C) c.5406+19G>C (n.5406+19G>C) c.5280+19G>C (n.5280+19G>C) c.5400+19G>C (n.5400+19G>C) c.5328+19G>C (n.5328+19G>C) c.2094+19G>C (n.2094+19G>C) c.1956+19G>C (n.1956+19G>C) c.4518+19G>C (n.4518+19G>C) c.5283+19G>C (n.5283+19G>C) c.5472+19G>C (n.5472+19G>C) c.5265+19G>C (n.5265+19G>C) c.1968+19G>C (n.1968+19G>C) n.1289+19G>C c.5469+19G>C (n.5469+19G>C) c.1793+19G>C c.1980+19G>C (n.1980+19G>C) c.*5189+19G>C (n.*5189+19G>C) c.2021-1399G>C (n.2021-1399G>C) c.336+19G>C (n.336+19G>C) c.879+19G>C (n.879+19G>C) c.105+19G>C (n.105+19G>C) n.5542+19G>C n.5583+19G>C | ClinVar dbSNP |
17 | g.43049102C>T | CA913187708 | BRCA1 | c.5403+19G>A (n.5403+19G>A) c.5406+19G>A (n.5406+19G>A) c.5280+19G>A (n.5280+19G>A) c.5400+19G>A (n.5400+19G>A) c.5328+19G>A (n.5328+19G>A) c.2094+19G>A (n.2094+19G>A) c.1956+19G>A (n.1956+19G>A) c.4518+19G>A (n.4518+19G>A) c.5283+19G>A (n.5283+19G>A) c.5472+19G>A (n.5472+19G>A) c.5265+19G>A (n.5265+19G>A) c.1968+19G>A (n.1968+19G>A) n.1289+19G>A c.5469+19G>A (n.5469+19G>A) c.1793+19G>A c.1980+19G>A (n.1980+19G>A) c.*5189+19G>A (n.*5189+19G>A) c.2021-1399G>A (n.2021-1399G>A) c.336+19G>A (n.336+19G>A) c.879+19G>A (n.879+19G>A) c.105+19G>A (n.105+19G>A) n.5542+19G>A n.5583+19G>A | ClinVar dbSNP |
17 | g.43049103A= | CA2260762685 | BRCA1 | c.5403+18T= (n.5403+18T=) c.5406+18T= (n.5406+18T=) c.5280+18T= (n.5280+18T=) c.5400+18T= (n.5400+18T=) c.5328+18T= (n.5328+18T=) c.2094+18T= (n.2094+18T=) c.1956+18T= (n.1956+18T=) c.4518+18T= (n.4518+18T=) c.5283+18T= (n.5283+18T=) c.5472+18T= (n.5472+18T=) c.5265+18T= (n.5265+18T=) c.1968+18T= (n.1968+18T=) n.1289+18T= c.5469+18T= (n.5469+18T=) c.1793+18T= c.1980+18T= (n.1980+18T=) c.*5189+18T= (n.*5189+18T=) c.2021-1400T= (n.2021-1400T=) c.336+18T= (n.336+18T=) c.879+18T= (n.879+18T=) c.105+18T= (n.105+18T=) n.5542+18T= n.5583+18T= | |
17 | g.43049103A>C | CA916080810 | BRCA1 | c.5403+18T>G (n.5403+18T>G) c.5406+18T>G (n.5406+18T>G) c.5280+18T>G (n.5280+18T>G) c.5400+18T>G (n.5400+18T>G) c.5328+18T>G (n.5328+18T>G) c.2094+18T>G (n.2094+18T>G) c.1956+18T>G (n.1956+18T>G) c.4518+18T>G (n.4518+18T>G) c.5283+18T>G (n.5283+18T>G) c.5472+18T>G (n.5472+18T>G) c.5265+18T>G (n.5265+18T>G) c.1968+18T>G (n.1968+18T>G) n.1289+18T>G c.5469+18T>G (n.5469+18T>G) c.1793+18T>G c.1980+18T>G (n.1980+18T>G) c.*5189+18T>G (n.*5189+18T>G) c.2021-1400T>G (n.2021-1400T>G) c.336+18T>G (n.336+18T>G) c.879+18T>G (n.879+18T>G) c.105+18T>G (n.105+18T>G) n.5542+18T>G n.5583+18T>G | ClinVar dbSNP |
17 | g.43049103A>G | CA916080809 | BRCA1 | c.5403+18T>C (n.5403+18T>C) c.5406+18T>C (n.5406+18T>C) c.5280+18T>C (n.5280+18T>C) c.5400+18T>C (n.5400+18T>C) c.5328+18T>C (n.5328+18T>C) c.2094+18T>C (n.2094+18T>C) c.1956+18T>C (n.1956+18T>C) c.4518+18T>C (n.4518+18T>C) c.5283+18T>C (n.5283+18T>C) c.5472+18T>C (n.5472+18T>C) c.5265+18T>C (n.5265+18T>C) c.1968+18T>C (n.1968+18T>C) n.1289+18T>C c.5469+18T>C (n.5469+18T>C) c.1793+18T>C c.1980+18T>C (n.1980+18T>C) c.*5189+18T>C (n.*5189+18T>C) c.2021-1400T>C (n.2021-1400T>C) c.336+18T>C (n.336+18T>C) c.879+18T>C (n.879+18T>C) c.105+18T>C (n.105+18T>C) n.5542+18T>C n.5583+18T>C | ClinVar dbSNP |
17 | g.43049103A>T | CA916080811 | BRCA1 | c.5403+18T>A (n.5403+18T>A) c.5406+18T>A (n.5406+18T>A) c.5280+18T>A (n.5280+18T>A) c.5400+18T>A (n.5400+18T>A) c.5328+18T>A (n.5328+18T>A) c.2094+18T>A (n.2094+18T>A) c.1956+18T>A (n.1956+18T>A) c.4518+18T>A (n.4518+18T>A) c.5283+18T>A (n.5283+18T>A) c.5472+18T>A (n.5472+18T>A) c.5265+18T>A (n.5265+18T>A) c.1968+18T>A (n.1968+18T>A) n.1289+18T>A c.5469+18T>A (n.5469+18T>A) c.1793+18T>A c.1980+18T>A (n.1980+18T>A) c.*5189+18T>A (n.*5189+18T>A) c.2021-1400T>A (n.2021-1400T>A) c.336+18T>A (n.336+18T>A) c.879+18T>A (n.879+18T>A) c.105+18T>A (n.105+18T>A) n.5542+18T>A n.5583+18T>A | ClinVar dbSNP |
17 | g.43049104G>A | CA16607599 | BRCA1 | c.5403+17C>T (n.5403+17C>T) c.5406+17C>T (n.5406+17C>T) c.5280+17C>T (n.5280+17C>T) c.5400+17C>T (n.5400+17C>T) c.5328+17C>T (n.5328+17C>T) c.2094+17C>T (n.2094+17C>T) c.1956+17C>T (n.1956+17C>T) c.4518+17C>T (n.4518+17C>T) c.5283+17C>T (n.5283+17C>T) c.5472+17C>T (n.5472+17C>T) c.5265+17C>T (n.5265+17C>T) c.1968+17C>T (n.1968+17C>T) n.1289+17C>T c.5469+17C>T (n.5469+17C>T) c.1793+17C>T c.1980+17C>T (n.1980+17C>T) c.*5189+17C>T (n.*5189+17C>T) c.2021-1401C>T (n.2021-1401C>T) c.336+17C>T (n.336+17C>T) c.879+17C>T (n.879+17C>T) c.105+17C>T (n.105+17C>T) n.5542+17C>T n.5583+17C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43049104G>C | CA916080813 | BRCA1 | c.5403+17C>G (n.5403+17C>G) c.5406+17C>G (n.5406+17C>G) c.5280+17C>G (n.5280+17C>G) c.5400+17C>G (n.5400+17C>G) c.5328+17C>G (n.5328+17C>G) c.2094+17C>G (n.2094+17C>G) c.1956+17C>G (n.1956+17C>G) c.4518+17C>G (n.4518+17C>G) c.5283+17C>G (n.5283+17C>G) c.5472+17C>G (n.5472+17C>G) c.5265+17C>G (n.5265+17C>G) c.1968+17C>G (n.1968+17C>G) n.1289+17C>G c.5469+17C>G (n.5469+17C>G) c.1793+17C>G c.1980+17C>G (n.1980+17C>G) c.*5189+17C>G (n.*5189+17C>G) c.2021-1401C>G (n.2021-1401C>G) c.336+17C>G (n.336+17C>G) c.879+17C>G (n.879+17C>G) c.105+17C>G (n.105+17C>G) n.5542+17C>G n.5583+17C>G | ClinVar dbSNP |
17 | g.43049104G= | CA2260762686 | BRCA1 | c.5403+17C= (n.5403+17C=) c.5406+17C= (n.5406+17C=) c.5280+17C= (n.5280+17C=) c.5400+17C= (n.5400+17C=) c.5328+17C= (n.5328+17C=) c.2094+17C= (n.2094+17C=) c.1956+17C= (n.1956+17C=) c.4518+17C= (n.4518+17C=) c.5283+17C= (n.5283+17C=) c.5472+17C= (n.5472+17C=) c.5265+17C= (n.5265+17C=) c.1968+17C= (n.1968+17C=) n.1289+17C= c.5469+17C= (n.5469+17C=) c.1793+17C= c.1980+17C= (n.1980+17C=) c.*5189+17C= (n.*5189+17C=) c.2021-1401C= (n.2021-1401C=) c.336+17C= (n.336+17C=) c.879+17C= (n.879+17C=) c.105+17C= (n.105+17C=) n.5542+17C= n.5583+17C= | |
17 | g.43049104G>T | CA916080815 | BRCA1 | c.5403+17C>A (n.5403+17C>A) c.5406+17C>A (n.5406+17C>A) c.5280+17C>A (n.5280+17C>A) c.5400+17C>A (n.5400+17C>A) c.5328+17C>A (n.5328+17C>A) c.2094+17C>A (n.2094+17C>A) c.1956+17C>A (n.1956+17C>A) c.4518+17C>A (n.4518+17C>A) c.5283+17C>A (n.5283+17C>A) c.5472+17C>A (n.5472+17C>A) c.5265+17C>A (n.5265+17C>A) c.1968+17C>A (n.1968+17C>A) n.1289+17C>A c.5469+17C>A (n.5469+17C>A) c.1793+17C>A c.1980+17C>A (n.1980+17C>A) c.*5189+17C>A (n.*5189+17C>A) c.2021-1401C>A (n.2021-1401C>A) c.336+17C>A (n.336+17C>A) c.879+17C>A (n.879+17C>A) c.105+17C>A (n.105+17C>A) n.5542+17C>A n.5583+17C>A | ClinVar dbSNP |
17 | g.43049105G>A | CA054840 | BRCA1 | c.5403+16C>T (n.5403+16C>T) c.5406+16C>T (n.5406+16C>T) c.5280+16C>T (n.5280+16C>T) c.5400+16C>T (n.5400+16C>T) c.5328+16C>T (n.5328+16C>T) c.2094+16C>T (n.2094+16C>T) c.1956+16C>T (n.1956+16C>T) c.4518+16C>T (n.4518+16C>T) c.5283+16C>T (n.5283+16C>T) c.5472+16C>T (n.5472+16C>T) c.5265+16C>T (n.5265+16C>T) c.1968+16C>T (n.1968+16C>T) n.1289+16C>T c.5469+16C>T (n.5469+16C>T) c.1793+16C>T c.1980+16C>T (n.1980+16C>T) c.*5189+16C>T (n.*5189+16C>T) c.2021-1402C>T (n.2021-1402C>T) c.336+16C>T (n.336+16C>T) c.879+16C>T (n.879+16C>T) c.105+16C>T (n.105+16C>T) n.5542+16C>T n.5583+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43049105G>C | CA916080817 | BRCA1 | c.5403+16C>G (n.5403+16C>G) c.5406+16C>G (n.5406+16C>G) c.5280+16C>G (n.5280+16C>G) c.5400+16C>G (n.5400+16C>G) c.5328+16C>G (n.5328+16C>G) c.2094+16C>G (n.2094+16C>G) c.1956+16C>G (n.1956+16C>G) c.4518+16C>G (n.4518+16C>G) c.5283+16C>G (n.5283+16C>G) c.5472+16C>G (n.5472+16C>G) c.5265+16C>G (n.5265+16C>G) c.1968+16C>G (n.1968+16C>G) n.1289+16C>G c.5469+16C>G (n.5469+16C>G) c.1793+16C>G c.1980+16C>G (n.1980+16C>G) c.*5189+16C>G (n.*5189+16C>G) c.2021-1402C>G (n.2021-1402C>G) c.336+16C>G (n.336+16C>G) c.879+16C>G (n.879+16C>G) c.105+16C>G (n.105+16C>G) n.5542+16C>G n.5583+16C>G | ClinVar dbSNP |
17 | g.43049105G= | CA2260762687 | BRCA1 | c.5403+16C= (n.5403+16C=) c.5406+16C= (n.5406+16C=) c.5280+16C= (n.5280+16C=) c.5400+16C= (n.5400+16C=) c.5328+16C= (n.5328+16C=) c.2094+16C= (n.2094+16C=) c.1956+16C= (n.1956+16C=) c.4518+16C= (n.4518+16C=) c.5283+16C= (n.5283+16C=) c.5472+16C= (n.5472+16C=) c.5265+16C= (n.5265+16C=) c.1968+16C= (n.1968+16C=) n.1289+16C= c.5469+16C= (n.5469+16C=) c.1793+16C= c.1980+16C= (n.1980+16C=) c.*5189+16C= (n.*5189+16C=) c.2021-1402C= (n.2021-1402C=) c.336+16C= (n.336+16C=) c.879+16C= (n.879+16C=) c.105+16C= (n.105+16C=) n.5542+16C= n.5583+16C= | |
17 | g.43049105G>T | CA916080819 | BRCA1 | c.5403+16C>A (n.5403+16C>A) c.5406+16C>A (n.5406+16C>A) c.5280+16C>A (n.5280+16C>A) c.5400+16C>A (n.5400+16C>A) c.5328+16C>A (n.5328+16C>A) c.2094+16C>A (n.2094+16C>A) c.1956+16C>A (n.1956+16C>A) c.4518+16C>A (n.4518+16C>A) c.5283+16C>A (n.5283+16C>A) c.5472+16C>A (n.5472+16C>A) c.5265+16C>A (n.5265+16C>A) c.1968+16C>A (n.1968+16C>A) n.1289+16C>A c.5469+16C>A (n.5469+16C>A) c.1793+16C>A c.1980+16C>A (n.1980+16C>A) c.*5189+16C>A (n.*5189+16C>A) c.2021-1402C>A (n.2021-1402C>A) c.336+16C>A (n.336+16C>A) c.879+16C>A (n.879+16C>A) c.105+16C>A (n.105+16C>A) n.5542+16C>A n.5583+16C>A | ClinVar dbSNP |
17 | g.43049106G>A | CA2499224353 | BRCA1 | c.5403+15C>T (n.5403+15C>T) c.5406+15C>T (n.5406+15C>T) c.5280+15C>T (n.5280+15C>T) c.5400+15C>T (n.5400+15C>T) c.5328+15C>T (n.5328+15C>T) c.2094+15C>T (n.2094+15C>T) c.1956+15C>T (n.1956+15C>T) c.4518+15C>T (n.4518+15C>T) c.5283+15C>T (n.5283+15C>T) c.5472+15C>T (n.5472+15C>T) c.5265+15C>T (n.5265+15C>T) c.1968+15C>T (n.1968+15C>T) n.1289+15C>T c.5469+15C>T (n.5469+15C>T) c.1793+15C>T c.1980+15C>T (n.1980+15C>T) c.*5189+15C>T (n.*5189+15C>T) c.2021-1403C>T (n.2021-1403C>T) c.336+15C>T (n.336+15C>T) c.879+15C>T (n.879+15C>T) c.105+15C>T (n.105+15C>T) n.5542+15C>T n.5583+15C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43049106G>C | CA916080820 | BRCA1 | c.5403+15C>G (n.5403+15C>G) c.5406+15C>G (n.5406+15C>G) c.5280+15C>G (n.5280+15C>G) c.5400+15C>G (n.5400+15C>G) c.5328+15C>G (n.5328+15C>G) c.2094+15C>G (n.2094+15C>G) c.1956+15C>G (n.1956+15C>G) c.4518+15C>G (n.4518+15C>G) c.5283+15C>G (n.5283+15C>G) c.5472+15C>G (n.5472+15C>G) c.5265+15C>G (n.5265+15C>G) c.1968+15C>G (n.1968+15C>G) n.1289+15C>G c.5469+15C>G (n.5469+15C>G) c.1793+15C>G c.1980+15C>G (n.1980+15C>G) c.*5189+15C>G (n.*5189+15C>G) c.2021-1403C>G (n.2021-1403C>G) c.336+15C>G (n.336+15C>G) c.879+15C>G (n.879+15C>G) c.105+15C>G (n.105+15C>G) n.5542+15C>G n.5583+15C>G | ClinVar dbSNP |
17 | g.43049106G= | CA2260762688 | BRCA1 | c.5403+15C= (n.5403+15C=) c.5406+15C= (n.5406+15C=) c.5280+15C= (n.5280+15C=) c.5400+15C= (n.5400+15C=) c.5328+15C= (n.5328+15C=) c.2094+15C= (n.2094+15C=) c.1956+15C= (n.1956+15C=) c.4518+15C= (n.4518+15C=) c.5283+15C= (n.5283+15C=) c.5472+15C= (n.5472+15C=) c.5265+15C= (n.5265+15C=) c.1968+15C= (n.1968+15C=) n.1289+15C= c.5469+15C= (n.5469+15C=) c.1793+15C= c.1980+15C= (n.1980+15C=) c.*5189+15C= (n.*5189+15C=) c.2021-1403C= (n.2021-1403C=) c.336+15C= (n.336+15C=) c.879+15C= (n.879+15C=) c.105+15C= (n.105+15C=) n.5542+15C= n.5583+15C= | |
17 | g.43049106G>T | CA16607601 | BRCA1 | c.5403+15C>A (n.5403+15C>A) c.5406+15C>A (n.5406+15C>A) c.5280+15C>A (n.5280+15C>A) c.5400+15C>A (n.5400+15C>A) c.5328+15C>A (n.5328+15C>A) c.2094+15C>A (n.2094+15C>A) c.1956+15C>A (n.1956+15C>A) c.4518+15C>A (n.4518+15C>A) c.5283+15C>A (n.5283+15C>A) c.5472+15C>A (n.5472+15C>A) c.5265+15C>A (n.5265+15C>A) c.1968+15C>A (n.1968+15C>A) n.1289+15C>A c.5469+15C>A (n.5469+15C>A) c.1793+15C>A c.1980+15C>A (n.1980+15C>A) c.*5189+15C>A (n.*5189+15C>A) c.2021-1403C>A (n.2021-1403C>A) c.336+15C>A (n.336+15C>A) c.879+15C>A (n.879+15C>A) c.105+15C>A (n.105+15C>A) n.5542+15C>A n.5583+15C>A | ClinVar dbSNP |
17 | g.43049106_43049125delinsGCACCCAATACTTACTGTGC | CA2260762689 | BRCA1 | c.5399_5403+15delinsGCACAGTAAGTATTGGGTGC c.5402_5406+15delinsGCACAGTAAGTATTGGGTGC c.5276_5280+15delinsGCACAGTAAGTATTGGGTGC c.5396_5400+15delinsGCACAGTAAGTATTGGGTGC c.5324_5328+15delinsGCACAGTAAGTATTGGGTGC c.2090_2094+15delinsGCACAGTAAGTATTGGGTGC c.1952_1956+15delinsGCACAGTAAGTATTGGGTGC c.4514_4518+15delinsGCACAGTAAGTATTGGGTGC c.5279_5283+15delinsGCACAGTAAGTATTGGGTGC c.5468_5472+15delinsGCACAGTAAGTATTGGGTGC c.5261_5265+15delinsGCACAGTAAGTATTGGGTGC c.1964_1968+15delinsGCACAGTAAGTATTGGGTGC n.1285_1289+15delinsGCACAGTAAGTATTGGGTGC c.5465_5469+15delinsGCACAGTAAGTATTGGGTGC c.1789_1793+15delinsGCACAGTAAGTATTGGGTGC c.1976_1980+15delinsGCACAGTAAGTATTGGGTGC c.*5185_*5189+15delinsGCACAGTAAGTATTGGGTGC c.2021-1422_2021-1403delinsGCACAGTAAGTATTGGGTGC (n.2021-1422_2021-1403delinsGCACAGTAAGTATTGGGTGC) c.332_336+15delinsGCACAGTAAGTATTGGGTGC c.875_879+15delinsGCACAGTAAGTATTGGGTGC c.101_105+15delinsGCACAGTAAGTATTGGGTGC n.5538_5542+15delinsGCACAGTAAGTATTGGGTGC n.5579_5583+15delinsGCACAGTAAGTATTGGGTGC | |
17 | g.43049107C>A | CA500143270 | BRCA1 | c.5403+14G>T (n.5403+14G>T) c.5406+14G>T (n.5406+14G>T) c.5280+14G>T (n.5280+14G>T) c.5400+14G>T (n.5400+14G>T) c.5328+14G>T (n.5328+14G>T) c.2094+14G>T (n.2094+14G>T) c.1956+14G>T (n.1956+14G>T) c.4518+14G>T (n.4518+14G>T) c.5283+14G>T (n.5283+14G>T) c.5472+14G>T (n.5472+14G>T) c.5265+14G>T (n.5265+14G>T) c.1968+14G>T (n.1968+14G>T) n.1289+14G>T c.5469+14G>T (n.5469+14G>T) c.1793+14G>T c.1980+14G>T (n.1980+14G>T) c.*5189+14G>T (n.*5189+14G>T) c.2021-1404G>T (n.2021-1404G>T) c.336+14G>T (n.336+14G>T) c.879+14G>T (n.879+14G>T) c.105+14G>T (n.105+14G>T) n.5542+14G>T n.5583+14G>T | ClinVar dbSNP |
17 | g.43049107C= | CA2260762690 | BRCA1 | c.5403+14G= (n.5403+14G=) c.5406+14G= (n.5406+14G=) c.5280+14G= (n.5280+14G=) c.5400+14G= (n.5400+14G=) c.5328+14G= (n.5328+14G=) c.2094+14G= (n.2094+14G=) c.1956+14G= (n.1956+14G=) c.4518+14G= (n.4518+14G=) c.5283+14G= (n.5283+14G=) c.5472+14G= (n.5472+14G=) c.5265+14G= (n.5265+14G=) c.1968+14G= (n.1968+14G=) n.1289+14G= c.5469+14G= (n.5469+14G=) c.1793+14G= c.1980+14G= (n.1980+14G=) c.*5189+14G= (n.*5189+14G=) c.2021-1404G= (n.2021-1404G=) c.336+14G= (n.336+14G=) c.879+14G= (n.879+14G=) c.105+14G= (n.105+14G=) n.5542+14G= n.5583+14G= | |
17 | g.43049107C>G | CA916080822 | BRCA1 | c.5403+14G>C (n.5403+14G>C) c.5406+14G>C (n.5406+14G>C) c.5280+14G>C (n.5280+14G>C) c.5400+14G>C (n.5400+14G>C) c.5328+14G>C (n.5328+14G>C) c.2094+14G>C (n.2094+14G>C) c.1956+14G>C (n.1956+14G>C) c.4518+14G>C (n.4518+14G>C) c.5283+14G>C (n.5283+14G>C) c.5472+14G>C (n.5472+14G>C) c.5265+14G>C (n.5265+14G>C) c.1968+14G>C (n.1968+14G>C) n.1289+14G>C c.5469+14G>C (n.5469+14G>C) c.1793+14G>C c.1980+14G>C (n.1980+14G>C) c.*5189+14G>C (n.*5189+14G>C) c.2021-1404G>C (n.2021-1404G>C) c.336+14G>C (n.336+14G>C) c.879+14G>C (n.879+14G>C) c.105+14G>C (n.105+14G>C) n.5542+14G>C n.5583+14G>C | ClinVar dbSNP |
17 | g.43049107C>T | CA772166408 | BRCA1 | c.5403+14G>A (n.5403+14G>A) c.5406+14G>A (n.5406+14G>A) c.5280+14G>A (n.5280+14G>A) c.5400+14G>A (n.5400+14G>A) c.5328+14G>A (n.5328+14G>A) c.2094+14G>A (n.2094+14G>A) c.1956+14G>A (n.1956+14G>A) c.4518+14G>A (n.4518+14G>A) c.5283+14G>A (n.5283+14G>A) c.5472+14G>A (n.5472+14G>A) c.5265+14G>A (n.5265+14G>A) c.1968+14G>A (n.1968+14G>A) n.1289+14G>A c.5469+14G>A (n.5469+14G>A) c.1793+14G>A c.1980+14G>A (n.1980+14G>A) c.*5189+14G>A (n.*5189+14G>A) c.2021-1404G>A (n.2021-1404G>A) c.336+14G>A (n.336+14G>A) c.879+14G>A (n.879+14G>A) c.105+14G>A (n.105+14G>A) n.5542+14G>A n.5583+14G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43049109_43049127del | CA913187709 | BRCA1 | c.5399_5403+14del c.5402_5406+14del c.5276_5280+14del c.5396_5400+14del c.5324_5328+14del c.2090_2094+14del c.1952_1956+14del c.4514_4518+14del c.5279_5283+14del c.5468_5472+14del c.5261_5265+14del c.1964_1968+14del n.1285_1289+14del c.5465_5469+14del c.1789_1793+14del c.1976_1980+14del c.*5185_*5189+14del c.2021-1422_2021-1404del (n.2021-1422_2021-1404del) c.332_336+14del c.875_879+14del c.101_105+14del n.5538_5542+14del n.5579_5583+14del | ClinVar dbSNP |
17 | g.43049108A= | CA2260762691 | BRCA1 | c.5403+13T= (n.5403+13T=) c.5406+13T= (n.5406+13T=) c.5280+13T= (n.5280+13T=) c.5400+13T= (n.5400+13T=) c.5328+13T= (n.5328+13T=) c.2094+13T= (n.2094+13T=) c.1956+13T= (n.1956+13T=) c.4518+13T= (n.4518+13T=) c.5283+13T= (n.5283+13T=) c.5472+13T= (n.5472+13T=) c.5265+13T= (n.5265+13T=) c.1968+13T= (n.1968+13T=) n.1289+13T= c.5469+13T= (n.5469+13T=) c.1793+13T= c.1980+13T= (n.1980+13T=) c.*5189+13T= (n.*5189+13T=) c.2021-1405T= (n.2021-1405T=) c.336+13T= (n.336+13T=) c.879+13T= (n.879+13T=) c.105+13T= (n.105+13T=) n.5542+13T= n.5583+13T= | |
17 | g.43049108A>C | CA916080823 | BRCA1 | c.5403+13T>G (n.5403+13T>G) c.5406+13T>G (n.5406+13T>G) c.5280+13T>G (n.5280+13T>G) c.5400+13T>G (n.5400+13T>G) c.5328+13T>G (n.5328+13T>G) c.2094+13T>G (n.2094+13T>G) c.1956+13T>G (n.1956+13T>G) c.4518+13T>G (n.4518+13T>G) c.5283+13T>G (n.5283+13T>G) c.5472+13T>G (n.5472+13T>G) c.5265+13T>G (n.5265+13T>G) c.1968+13T>G (n.1968+13T>G) n.1289+13T>G c.5469+13T>G (n.5469+13T>G) c.1793+13T>G c.1980+13T>G (n.1980+13T>G) c.*5189+13T>G (n.*5189+13T>G) c.2021-1405T>G (n.2021-1405T>G) c.336+13T>G (n.336+13T>G) c.879+13T>G (n.879+13T>G) c.105+13T>G (n.105+13T>G) n.5542+13T>G n.5583+13T>G | ClinVar dbSNP |
17 | g.43049108A>G | CA916080825 | BRCA1 | c.5403+13T>C (n.5403+13T>C) c.5406+13T>C (n.5406+13T>C) c.5280+13T>C (n.5280+13T>C) c.5400+13T>C (n.5400+13T>C) c.5328+13T>C (n.5328+13T>C) c.2094+13T>C (n.2094+13T>C) c.1956+13T>C (n.1956+13T>C) c.4518+13T>C (n.4518+13T>C) c.5283+13T>C (n.5283+13T>C) c.5472+13T>C (n.5472+13T>C) c.5265+13T>C (n.5265+13T>C) c.1968+13T>C (n.1968+13T>C) n.1289+13T>C c.5469+13T>C (n.5469+13T>C) c.1793+13T>C c.1980+13T>C (n.1980+13T>C) c.*5189+13T>C (n.*5189+13T>C) c.2021-1405T>C (n.2021-1405T>C) c.336+13T>C (n.336+13T>C) c.879+13T>C (n.879+13T>C) c.105+13T>C (n.105+13T>C) n.5542+13T>C n.5583+13T>C | ClinVar dbSNP |
17 | g.43049108A>T | CA916080824 | BRCA1 | c.5403+13T>A (n.5403+13T>A) c.5406+13T>A (n.5406+13T>A) c.5280+13T>A (n.5280+13T>A) c.5400+13T>A (n.5400+13T>A) c.5328+13T>A (n.5328+13T>A) c.2094+13T>A (n.2094+13T>A) c.1956+13T>A (n.1956+13T>A) c.4518+13T>A (n.4518+13T>A) c.5283+13T>A (n.5283+13T>A) c.5472+13T>A (n.5472+13T>A) c.5265+13T>A (n.5265+13T>A) c.1968+13T>A (n.1968+13T>A) n.1289+13T>A c.5469+13T>A (n.5469+13T>A) c.1793+13T>A c.1980+13T>A (n.1980+13T>A) c.*5189+13T>A (n.*5189+13T>A) c.2021-1405T>A (n.2021-1405T>A) c.336+13T>A (n.336+13T>A) c.879+13T>A (n.879+13T>A) c.105+13T>A (n.105+13T>A) n.5542+13T>A n.5583+13T>A | ClinVar dbSNP |
17 | g.43049109C>A | CA913187710 | BRCA1 | c.5403+12G>T (n.5403+12G>T) c.5406+12G>T (n.5406+12G>T) c.5280+12G>T (n.5280+12G>T) c.5400+12G>T (n.5400+12G>T) c.5328+12G>T (n.5328+12G>T) c.2094+12G>T (n.2094+12G>T) c.1956+12G>T (n.1956+12G>T) c.4518+12G>T (n.4518+12G>T) c.5283+12G>T (n.5283+12G>T) c.5472+12G>T (n.5472+12G>T) c.5265+12G>T (n.5265+12G>T) c.1968+12G>T (n.1968+12G>T) n.1289+12G>T c.5469+12G>T (n.5469+12G>T) c.1793+12G>T c.1980+12G>T (n.1980+12G>T) c.*5189+12G>T (n.*5189+12G>T) c.2021-1406G>T (n.2021-1406G>T) c.336+12G>T (n.336+12G>T) c.879+12G>T (n.879+12G>T) c.105+12G>T (n.105+12G>T) n.5542+12G>T n.5583+12G>T | ClinVar dbSNP |
17 | g.43049109C= | CA2260762692 | BRCA1 | c.5403+12G= (n.5403+12G=) c.5406+12G= (n.5406+12G=) c.5280+12G= (n.5280+12G=) c.5400+12G= (n.5400+12G=) c.5328+12G= (n.5328+12G=) c.2094+12G= (n.2094+12G=) c.1956+12G= (n.1956+12G=) c.4518+12G= (n.4518+12G=) c.5283+12G= (n.5283+12G=) c.5472+12G= (n.5472+12G=) c.5265+12G= (n.5265+12G=) c.1968+12G= (n.1968+12G=) n.1289+12G= c.5469+12G= (n.5469+12G=) c.1793+12G= c.1980+12G= (n.1980+12G=) c.*5189+12G= (n.*5189+12G=) c.2021-1406G= (n.2021-1406G=) c.336+12G= (n.336+12G=) c.879+12G= (n.879+12G=) c.105+12G= (n.105+12G=) n.5542+12G= n.5583+12G= | |
17 | g.43049109C>G | CA916080826 | BRCA1 | c.5403+12G>C (n.5403+12G>C) c.5406+12G>C (n.5406+12G>C) c.5280+12G>C (n.5280+12G>C) c.5400+12G>C (n.5400+12G>C) c.5328+12G>C (n.5328+12G>C) c.2094+12G>C (n.2094+12G>C) c.1956+12G>C (n.1956+12G>C) c.4518+12G>C (n.4518+12G>C) c.5283+12G>C (n.5283+12G>C) c.5472+12G>C (n.5472+12G>C) c.5265+12G>C (n.5265+12G>C) c.1968+12G>C (n.1968+12G>C) n.1289+12G>C c.5469+12G>C (n.5469+12G>C) c.1793+12G>C c.1980+12G>C (n.1980+12G>C) c.*5189+12G>C (n.*5189+12G>C) c.2021-1406G>C (n.2021-1406G>C) c.336+12G>C (n.336+12G>C) c.879+12G>C (n.879+12G>C) c.105+12G>C (n.105+12G>C) n.5542+12G>C n.5583+12G>C | ClinVar dbSNP |
17 | g.43049109C>T | CA658684038 | BRCA1 | c.5403+12G>A (n.5403+12G>A) c.5406+12G>A (n.5406+12G>A) c.5280+12G>A (n.5280+12G>A) c.5400+12G>A (n.5400+12G>A) c.5328+12G>A (n.5328+12G>A) c.2094+12G>A (n.2094+12G>A) c.1956+12G>A (n.1956+12G>A) c.4518+12G>A (n.4518+12G>A) c.5283+12G>A (n.5283+12G>A) c.5472+12G>A (n.5472+12G>A) c.5265+12G>A (n.5265+12G>A) c.1968+12G>A (n.1968+12G>A) n.1289+12G>A c.5469+12G>A (n.5469+12G>A) c.1793+12G>A c.1980+12G>A (n.1980+12G>A) c.*5189+12G>A (n.*5189+12G>A) c.2021-1406G>A (n.2021-1406G>A) c.336+12G>A (n.336+12G>A) c.879+12G>A (n.879+12G>A) c.105+12G>A (n.105+12G>A) n.5542+12G>A n.5583+12G>A | ClinVar dbSNP |
17 | g.43049110C>A | CA658684039 | BRCA1 | c.5403+11G>T (n.5403+11G>T) c.5406+11G>T (n.5406+11G>T) c.5280+11G>T (n.5280+11G>T) c.5400+11G>T (n.5400+11G>T) c.5328+11G>T (n.5328+11G>T) c.2094+11G>T (n.2094+11G>T) c.1956+11G>T (n.1956+11G>T) c.4518+11G>T (n.4518+11G>T) c.5283+11G>T (n.5283+11G>T) c.5472+11G>T (n.5472+11G>T) c.5265+11G>T (n.5265+11G>T) c.1968+11G>T (n.1968+11G>T) n.1289+11G>T c.5469+11G>T (n.5469+11G>T) c.1793+11G>T c.1980+11G>T (n.1980+11G>T) c.*5189+11G>T (n.*5189+11G>T) c.2021-1407G>T (n.2021-1407G>T) c.336+11G>T (n.336+11G>T) c.879+11G>T (n.879+11G>T) c.105+11G>T (n.105+11G>T) n.5542+11G>T n.5583+11G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43049110C= | CA2260762693 | BRCA1 | c.5403+11G= (n.5403+11G=) c.5406+11G= (n.5406+11G=) c.5280+11G= (n.5280+11G=) c.5400+11G= (n.5400+11G=) c.5328+11G= (n.5328+11G=) c.2094+11G= (n.2094+11G=) c.1956+11G= (n.1956+11G=) c.4518+11G= (n.4518+11G=) c.5283+11G= (n.5283+11G=) c.5472+11G= (n.5472+11G=) c.5265+11G= (n.5265+11G=) c.1968+11G= (n.1968+11G=) n.1289+11G= c.5469+11G= (n.5469+11G=) c.1793+11G= c.1980+11G= (n.1980+11G=) c.*5189+11G= (n.*5189+11G=) c.2021-1407G= (n.2021-1407G=) c.336+11G= (n.336+11G=) c.879+11G= (n.879+11G=) c.105+11G= (n.105+11G=) n.5542+11G= n.5583+11G= | |
17 | g.43049110C>G | CA916080827 | BRCA1 | c.5403+11G>C (n.5403+11G>C) c.5406+11G>C (n.5406+11G>C) c.5280+11G>C (n.5280+11G>C) c.5400+11G>C (n.5400+11G>C) c.5328+11G>C (n.5328+11G>C) c.2094+11G>C (n.2094+11G>C) c.1956+11G>C (n.1956+11G>C) c.4518+11G>C (n.4518+11G>C) c.5283+11G>C (n.5283+11G>C) c.5472+11G>C (n.5472+11G>C) c.5265+11G>C (n.5265+11G>C) c.1968+11G>C (n.1968+11G>C) n.1289+11G>C c.5469+11G>C (n.5469+11G>C) c.1793+11G>C c.1980+11G>C (n.1980+11G>C) c.*5189+11G>C (n.*5189+11G>C) c.2021-1407G>C (n.2021-1407G>C) c.336+11G>C (n.336+11G>C) c.879+11G>C (n.879+11G>C) c.105+11G>C (n.105+11G>C) n.5542+11G>C n.5583+11G>C | ClinVar dbSNP |
17 | g.43049110C>T | CA290818063 | BRCA1 | c.5403+11G>A (n.5403+11G>A) c.5406+11G>A (n.5406+11G>A) c.5280+11G>A (n.5280+11G>A) c.5400+11G>A (n.5400+11G>A) c.5328+11G>A (n.5328+11G>A) c.2094+11G>A (n.2094+11G>A) c.1956+11G>A (n.1956+11G>A) c.4518+11G>A (n.4518+11G>A) c.5283+11G>A (n.5283+11G>A) c.5472+11G>A (n.5472+11G>A) c.5265+11G>A (n.5265+11G>A) c.1968+11G>A (n.1968+11G>A) n.1289+11G>A c.5469+11G>A (n.5469+11G>A) c.1793+11G>A c.1980+11G>A (n.1980+11G>A) c.*5189+11G>A (n.*5189+11G>A) c.2021-1407G>A (n.2021-1407G>A) c.336+11G>A (n.336+11G>A) c.879+11G>A (n.879+11G>A) c.105+11G>A (n.105+11G>A) n.5542+11G>A n.5583+11G>A | ClinVar dbSNP |
17 | g.43049111C>A | CA2733692420 | BRCA1 | c.5403+10G>T (n.5403+10G>T) c.5406+10G>T (n.5406+10G>T) c.5280+10G>T (n.5280+10G>T) c.5400+10G>T (n.5400+10G>T) c.5328+10G>T (n.5328+10G>T) c.2094+10G>T (n.2094+10G>T) c.1956+10G>T (n.1956+10G>T) c.4518+10G>T (n.4518+10G>T) c.5283+10G>T (n.5283+10G>T) c.5472+10G>T (n.5472+10G>T) c.5265+10G>T (n.5265+10G>T) c.1968+10G>T (n.1968+10G>T) n.1289+10G>T c.5469+10G>T (n.5469+10G>T) c.1793+10G>T c.1980+10G>T (n.1980+10G>T) c.*5189+10G>T (n.*5189+10G>T) c.2021-1408G>T (n.2021-1408G>T) c.336+10G>T (n.336+10G>T) c.879+10G>T (n.879+10G>T) c.105+10G>T (n.105+10G>T) n.5542+10G>T n.5583+10G>T | dbSNP |
17 | g.43049111C= | CA2260762694 | BRCA1 | c.5403+10G= (n.5403+10G=) c.5406+10G= (n.5406+10G=) c.5280+10G= (n.5280+10G=) c.5400+10G= (n.5400+10G=) c.5328+10G= (n.5328+10G=) c.2094+10G= (n.2094+10G=) c.1956+10G= (n.1956+10G=) c.4518+10G= (n.4518+10G=) c.5283+10G= (n.5283+10G=) c.5472+10G= (n.5472+10G=) c.5265+10G= (n.5265+10G=) c.1968+10G= (n.1968+10G=) n.1289+10G= c.5469+10G= (n.5469+10G=) c.1793+10G= c.1980+10G= (n.1980+10G=) c.*5189+10G= (n.*5189+10G=) c.2021-1408G= (n.2021-1408G=) c.336+10G= (n.336+10G=) c.879+10G= (n.879+10G=) c.105+10G= (n.105+10G=) n.5542+10G= n.5583+10G= | |
17 | g.43049111C>G | CA916080829 | BRCA1 | c.5403+10G>C (n.5403+10G>C) c.5406+10G>C (n.5406+10G>C) c.5280+10G>C (n.5280+10G>C) c.5400+10G>C (n.5400+10G>C) c.5328+10G>C (n.5328+10G>C) c.2094+10G>C (n.2094+10G>C) c.1956+10G>C (n.1956+10G>C) c.4518+10G>C (n.4518+10G>C) c.5283+10G>C (n.5283+10G>C) c.5472+10G>C (n.5472+10G>C) c.5265+10G>C (n.5265+10G>C) c.1968+10G>C (n.1968+10G>C) n.1289+10G>C c.5469+10G>C (n.5469+10G>C) c.1793+10G>C c.1980+10G>C (n.1980+10G>C) c.*5189+10G>C (n.*5189+10G>C) c.2021-1408G>C (n.2021-1408G>C) c.336+10G>C (n.336+10G>C) c.879+10G>C (n.879+10G>C) c.105+10G>C (n.105+10G>C) n.5542+10G>C n.5583+10G>C | ClinVar dbSNP |
17 | g.43049111C>T | CA916080828 | BRCA1 | c.5403+10G>A (n.5403+10G>A) c.5406+10G>A (n.5406+10G>A) c.5280+10G>A (n.5280+10G>A) c.5400+10G>A (n.5400+10G>A) c.5328+10G>A (n.5328+10G>A) c.2094+10G>A (n.2094+10G>A) c.1956+10G>A (n.1956+10G>A) c.4518+10G>A (n.4518+10G>A) c.5283+10G>A (n.5283+10G>A) c.5472+10G>A (n.5472+10G>A) c.5265+10G>A (n.5265+10G>A) c.1968+10G>A (n.1968+10G>A) n.1289+10G>A c.5469+10G>A (n.5469+10G>A) c.1793+10G>A c.1980+10G>A (n.1980+10G>A) c.*5189+10G>A (n.*5189+10G>A) c.2021-1408G>A (n.2021-1408G>A) c.336+10G>A (n.336+10G>A) c.879+10G>A (n.879+10G>A) c.105+10G>A (n.105+10G>A) n.5542+10G>A n.5583+10G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43049112A= | CA2260762695 | BRCA1 | c.5403+9T= (n.5403+9T=) c.5406+9T= (n.5406+9T=) c.5280+9T= (n.5280+9T=) c.5400+9T= (n.5400+9T=) c.5328+9T= (n.5328+9T=) c.2094+9T= (n.2094+9T=) c.1956+9T= (n.1956+9T=) c.4518+9T= (n.4518+9T=) c.5283+9T= (n.5283+9T=) c.5472+9T= (n.5472+9T=) c.5265+9T= (n.5265+9T=) c.1968+9T= (n.1968+9T=) n.1289+9T= c.5469+9T= (n.5469+9T=) c.1793+9T= c.1980+9T= (n.1980+9T=) c.*5189+9T= (n.*5189+9T=) c.2021-1409T= (n.2021-1409T=) c.336+9T= (n.336+9T=) c.879+9T= (n.879+9T=) c.105+9T= (n.105+9T=) n.5542+9T= n.5583+9T= | |
17 | g.43049112A>C | CA916080831 | BRCA1 | c.5403+9T>G (n.5403+9T>G) c.5406+9T>G (n.5406+9T>G) c.5280+9T>G (n.5280+9T>G) c.5400+9T>G (n.5400+9T>G) c.5328+9T>G (n.5328+9T>G) c.2094+9T>G (n.2094+9T>G) c.1956+9T>G (n.1956+9T>G) c.4518+9T>G (n.4518+9T>G) c.5283+9T>G (n.5283+9T>G) c.5472+9T>G (n.5472+9T>G) c.5265+9T>G (n.5265+9T>G) c.1968+9T>G (n.1968+9T>G) n.1289+9T>G c.5469+9T>G (n.5469+9T>G) c.1793+9T>G c.1980+9T>G (n.1980+9T>G) c.*5189+9T>G (n.*5189+9T>G) c.2021-1409T>G (n.2021-1409T>G) c.336+9T>G (n.336+9T>G) c.879+9T>G (n.879+9T>G) c.105+9T>G (n.105+9T>G) n.5542+9T>G n.5583+9T>G | ClinVar dbSNP |
17 | g.43049112A>G | CA003566 | BRCA1 | c.5403+9T>C (n.5403+9T>C) c.5406+9T>C (n.5406+9T>C) c.5280+9T>C (n.5280+9T>C) c.5400+9T>C (n.5400+9T>C) c.5328+9T>C (n.5328+9T>C) c.2094+9T>C (n.2094+9T>C) c.1956+9T>C (n.1956+9T>C) c.4518+9T>C (n.4518+9T>C) c.5283+9T>C (n.5283+9T>C) c.5472+9T>C (n.5472+9T>C) c.5265+9T>C (n.5265+9T>C) c.1968+9T>C (n.1968+9T>C) n.1289+9T>C c.5469+9T>C (n.5469+9T>C) c.1793+9T>C c.1980+9T>C (n.1980+9T>C) c.*5189+9T>C (n.*5189+9T>C) c.2021-1409T>C (n.2021-1409T>C) c.336+9T>C (n.336+9T>C) c.879+9T>C (n.879+9T>C) c.105+9T>C (n.105+9T>C) n.5542+9T>C n.5583+9T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43049112A>T | CA916080830 | BRCA1 | c.5403+9T>A (n.5403+9T>A) c.5406+9T>A (n.5406+9T>A) c.5280+9T>A (n.5280+9T>A) c.5400+9T>A (n.5400+9T>A) c.5328+9T>A (n.5328+9T>A) c.2094+9T>A (n.2094+9T>A) c.1956+9T>A (n.1956+9T>A) c.4518+9T>A (n.4518+9T>A) c.5283+9T>A (n.5283+9T>A) c.5472+9T>A (n.5472+9T>A) c.5265+9T>A (n.5265+9T>A) c.1968+9T>A (n.1968+9T>A) n.1289+9T>A c.5469+9T>A (n.5469+9T>A) c.1793+9T>A c.1980+9T>A (n.1980+9T>A) c.*5189+9T>A (n.*5189+9T>A) c.2021-1409T>A (n.2021-1409T>A) c.336+9T>A (n.336+9T>A) c.879+9T>A (n.879+9T>A) c.105+9T>A (n.105+9T>A) n.5542+9T>A n.5583+9T>A | ClinVar dbSNP |
17 | g.43049113A= | CA2260762696 | BRCA1 | c.5403+8T= (n.5403+8T=) c.5406+8T= (n.5406+8T=) c.5280+8T= (n.5280+8T=) c.5400+8T= (n.5400+8T=) c.5328+8T= (n.5328+8T=) c.2094+8T= (n.2094+8T=) c.1956+8T= (n.1956+8T=) c.4518+8T= (n.4518+8T=) c.5283+8T= (n.5283+8T=) c.5472+8T= (n.5472+8T=) c.5265+8T= (n.5265+8T=) c.1968+8T= (n.1968+8T=) n.1289+8T= c.5469+8T= (n.5469+8T=) c.1793+8T= c.1980+8T= (n.1980+8T=) c.*5189+8T= (n.*5189+8T=) c.2021-1410T= (n.2021-1410T=) c.336+8T= (n.336+8T=) c.879+8T= (n.879+8T=) c.105+8T= (n.105+8T=) n.5542+8T= n.5583+8T= | |
17 | g.43049113A>C | CA916080832 | BRCA1 | c.5403+8T>G (n.5403+8T>G) c.5406+8T>G (n.5406+8T>G) c.5280+8T>G (n.5280+8T>G) c.5400+8T>G (n.5400+8T>G) c.5328+8T>G (n.5328+8T>G) c.2094+8T>G (n.2094+8T>G) c.1956+8T>G (n.1956+8T>G) c.4518+8T>G (n.4518+8T>G) c.5283+8T>G (n.5283+8T>G) c.5472+8T>G (n.5472+8T>G) c.5265+8T>G (n.5265+8T>G) c.1968+8T>G (n.1968+8T>G) n.1289+8T>G c.5469+8T>G (n.5469+8T>G) c.1793+8T>G c.1980+8T>G (n.1980+8T>G) c.*5189+8T>G (n.*5189+8T>G) c.2021-1410T>G (n.2021-1410T>G) c.336+8T>G (n.336+8T>G) c.879+8T>G (n.879+8T>G) c.105+8T>G (n.105+8T>G) n.5542+8T>G n.5583+8T>G | ClinVar dbSNP |
17 | g.43049113A>G | CA003565 | BRCA1 | c.5403+8T>C (n.5403+8T>C) c.5406+8T>C (n.5406+8T>C) c.5280+8T>C (n.5280+8T>C) c.5400+8T>C (n.5400+8T>C) c.5328+8T>C (n.5328+8T>C) c.2094+8T>C (n.2094+8T>C) c.1956+8T>C (n.1956+8T>C) c.4518+8T>C (n.4518+8T>C) c.5283+8T>C (n.5283+8T>C) c.5472+8T>C (n.5472+8T>C) c.5265+8T>C (n.5265+8T>C) c.1968+8T>C (n.1968+8T>C) n.1289+8T>C c.5469+8T>C (n.5469+8T>C) c.1793+8T>C c.1980+8T>C (n.1980+8T>C) c.*5189+8T>C (n.*5189+8T>C) c.2021-1410T>C (n.2021-1410T>C) c.336+8T>C (n.336+8T>C) c.879+8T>C (n.879+8T>C) c.105+8T>C (n.105+8T>C) n.5542+8T>C n.5583+8T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43049113A>T | CA916080833 | BRCA1 | c.5403+8T>A (n.5403+8T>A) c.5406+8T>A (n.5406+8T>A) c.5280+8T>A (n.5280+8T>A) c.5400+8T>A (n.5400+8T>A) c.5328+8T>A (n.5328+8T>A) c.2094+8T>A (n.2094+8T>A) c.1956+8T>A (n.1956+8T>A) c.4518+8T>A (n.4518+8T>A) c.5283+8T>A (n.5283+8T>A) c.5472+8T>A (n.5472+8T>A) c.5265+8T>A (n.5265+8T>A) c.1968+8T>A (n.1968+8T>A) n.1289+8T>A c.5469+8T>A (n.5469+8T>A) c.1793+8T>A c.1980+8T>A (n.1980+8T>A) c.*5189+8T>A (n.*5189+8T>A) c.2021-1410T>A (n.2021-1410T>A) c.336+8T>A (n.336+8T>A) c.879+8T>A (n.879+8T>A) c.105+8T>A (n.105+8T>A) n.5542+8T>A n.5583+8T>A | ClinVar dbSNP |
17 | g.43049113_43049117delinsATACT | CA2260762697 | BRCA1 | c.5403+4_5403+8delinsAGTAT (n.5403+4_5403+8delinsAGTAT) c.5406+4_5406+8delinsAGTAT (n.5406+4_5406+8delinsAGTAT) c.5280+4_5280+8delinsAGTAT (n.5280+4_5280+8delinsAGTAT) c.5400+4_5400+8delinsAGTAT (n.5400+4_5400+8delinsAGTAT) c.5328+4_5328+8delinsAGTAT (n.5328+4_5328+8delinsAGTAT) c.2094+4_2094+8delinsAGTAT (n.2094+4_2094+8delinsAGTAT) c.1956+4_1956+8delinsAGTAT (n.1956+4_1956+8delinsAGTAT) c.4518+4_4518+8delinsAGTAT (n.4518+4_4518+8delinsAGTAT) c.5283+4_5283+8delinsAGTAT (n.5283+4_5283+8delinsAGTAT) c.5472+4_5472+8delinsAGTAT (n.5472+4_5472+8delinsAGTAT) c.5265+4_5265+8delinsAGTAT (n.5265+4_5265+8delinsAGTAT) c.1968+4_1968+8delinsAGTAT (n.1968+4_1968+8delinsAGTAT) n.1289+4_1289+8delinsAGTAT c.5469+4_5469+8delinsAGTAT (n.5469+4_5469+8delinsAGTAT) c.1793+4_1793+8delinsAGTAT c.1980+4_1980+8delinsAGTAT (n.1980+4_1980+8delinsAGTAT) c.*5189+4_*5189+8delinsAGTAT (n.*5189+4_*5189+8delinsAGTAT) c.2021-1414_2021-1410delinsAGTAT (n.2021-1414_2021-1410delinsAGTAT) c.336+4_336+8delinsAGTAT (n.336+4_336+8delinsAGTAT) c.879+4_879+8delinsAGTAT (n.879+4_879+8delinsAGTAT) c.105+4_105+8delinsAGTAT (n.105+4_105+8delinsAGTAT) n.5542+4_5542+8delinsAGTAT n.5583+4_5583+8delinsAGTAT | |
17 | g.43049114T>A | CA913187711 | BRCA1 | c.5403+7A>T (n.5403+7A>T) c.5406+7A>T (n.5406+7A>T) c.5280+7A>T (n.5280+7A>T) c.5400+7A>T (n.5400+7A>T) c.5328+7A>T (n.5328+7A>T) c.2094+7A>T (n.2094+7A>T) c.1956+7A>T (n.1956+7A>T) c.4518+7A>T (n.4518+7A>T) c.5283+7A>T (n.5283+7A>T) c.5472+7A>T (n.5472+7A>T) c.5265+7A>T (n.5265+7A>T) c.1968+7A>T (n.1968+7A>T) n.1289+7A>T c.5469+7A>T (n.5469+7A>T) c.1793+7A>T c.1980+7A>T (n.1980+7A>T) c.*5189+7A>T (n.*5189+7A>T) c.2021-1411A>T (n.2021-1411A>T) c.336+7A>T (n.336+7A>T) c.879+7A>T (n.879+7A>T) c.105+7A>T (n.105+7A>T) n.5542+7A>T n.5583+7A>T | ClinVar dbSNP |
17 | g.43049114T>C | CA003564 | BRCA1 | c.5403+7A>G (n.5403+7A>G) c.5406+7A>G (n.5406+7A>G) c.5280+7A>G (n.5280+7A>G) c.5400+7A>G (n.5400+7A>G) c.5328+7A>G (n.5328+7A>G) c.2094+7A>G (n.2094+7A>G) c.1956+7A>G (n.1956+7A>G) c.4518+7A>G (n.4518+7A>G) c.5283+7A>G (n.5283+7A>G) c.5472+7A>G (n.5472+7A>G) c.5265+7A>G (n.5265+7A>G) c.1968+7A>G (n.1968+7A>G) n.1289+7A>G c.5469+7A>G (n.5469+7A>G) c.1793+7A>G c.1980+7A>G (n.1980+7A>G) c.*5189+7A>G (n.*5189+7A>G) c.2021-1411A>G (n.2021-1411A>G) c.336+7A>G (n.336+7A>G) c.879+7A>G (n.879+7A>G) c.105+7A>G (n.105+7A>G) n.5542+7A>G n.5583+7A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43049114T>G | CA916080834 | BRCA1 | c.5403+7A>C (n.5403+7A>C) c.5406+7A>C (n.5406+7A>C) c.5280+7A>C (n.5280+7A>C) c.5400+7A>C (n.5400+7A>C) c.5328+7A>C (n.5328+7A>C) c.2094+7A>C (n.2094+7A>C) c.1956+7A>C (n.1956+7A>C) c.4518+7A>C (n.4518+7A>C) c.5283+7A>C (n.5283+7A>C) c.5472+7A>C (n.5472+7A>C) c.5265+7A>C (n.5265+7A>C) c.1968+7A>C (n.1968+7A>C) n.1289+7A>C c.5469+7A>C (n.5469+7A>C) c.1793+7A>C c.1980+7A>C (n.1980+7A>C) c.*5189+7A>C (n.*5189+7A>C) c.2021-1411A>C (n.2021-1411A>C) c.336+7A>C (n.336+7A>C) c.879+7A>C (n.879+7A>C) c.105+7A>C (n.105+7A>C) n.5542+7A>C n.5583+7A>C | ClinVar dbSNP |
17 | g.43049114T= | CA2260762698 | BRCA1 | c.5403+7A= (n.5403+7A=) c.5406+7A= (n.5406+7A=) c.5280+7A= (n.5280+7A=) c.5400+7A= (n.5400+7A=) c.5328+7A= (n.5328+7A=) c.2094+7A= (n.2094+7A=) c.1956+7A= (n.1956+7A=) c.4518+7A= (n.4518+7A=) c.5283+7A= (n.5283+7A=) c.5472+7A= (n.5472+7A=) c.5265+7A= (n.5265+7A=) c.1968+7A= (n.1968+7A=) n.1289+7A= c.5469+7A= (n.5469+7A=) c.1793+7A= c.1980+7A= (n.1980+7A=) c.*5189+7A= (n.*5189+7A=) c.2021-1411A= (n.2021-1411A=) c.336+7A= (n.336+7A=) c.879+7A= (n.879+7A=) c.105+7A= (n.105+7A=) n.5542+7A= n.5583+7A= | |
17 | g.43049118_43049121del | CA658798056 | BRCA1 | c.5403+4_5403+7del c.5406+4_5406+7del c.5280+4_5280+7del c.5400+4_5400+7del c.5328+4_5328+7del c.2094+4_2094+7del c.1956+4_1956+7del c.4518+4_4518+7del c.5283+4_5283+7del c.5472+4_5472+7del c.5265+4_5265+7del c.1968+4_1968+7del n.1289+4_1289+7del c.5469+4_5469+7del c.1793+4_1793+7del c.1980+4_1980+7del c.*5189+4_*5189+7del c.2021-1414_2021-1411del (n.2021-1414_2021-1411del) c.336+4_336+7del c.879+4_879+7del c.105+4_105+7del n.5542+4_5542+7del n.5583+4_5583+7del | ClinVar dbSNP |
17 | g.43049115A= | CA2260762699 | BRCA1 | c.5403+6T= (n.5403+6T=) c.5406+6T= (n.5406+6T=) c.5280+6T= (n.5280+6T=) c.5400+6T= (n.5400+6T=) c.5328+6T= (n.5328+6T=) c.2094+6T= (n.2094+6T=) c.1956+6T= (n.1956+6T=) c.4518+6T= (n.4518+6T=) c.5283+6T= (n.5283+6T=) c.5472+6T= (n.5472+6T=) c.5265+6T= (n.5265+6T=) c.1968+6T= (n.1968+6T=) n.1289+6T= c.5469+6T= (n.5469+6T=) c.1793+6T= c.1980+6T= (n.1980+6T=) c.*5189+6T= (n.*5189+6T=) c.2021-1412T= (n.2021-1412T=) c.336+6T= (n.336+6T=) c.879+6T= (n.879+6T=) c.105+6T= (n.105+6T=) n.5542+6T= n.5583+6T= | |
17 | g.43049115A>C | CA916080835 | BRCA1 | c.5403+6T>G (n.5403+6T>G) c.5406+6T>G (n.5406+6T>G) c.5280+6T>G (n.5280+6T>G) c.5400+6T>G (n.5400+6T>G) c.5328+6T>G (n.5328+6T>G) c.2094+6T>G (n.2094+6T>G) c.1956+6T>G (n.1956+6T>G) c.4518+6T>G (n.4518+6T>G) c.5283+6T>G (n.5283+6T>G) c.5472+6T>G (n.5472+6T>G) c.5265+6T>G (n.5265+6T>G) c.1968+6T>G (n.1968+6T>G) n.1289+6T>G c.5469+6T>G (n.5469+6T>G) c.1793+6T>G c.1980+6T>G (n.1980+6T>G) c.*5189+6T>G (n.*5189+6T>G) c.2021-1412T>G (n.2021-1412T>G) c.336+6T>G (n.336+6T>G) c.879+6T>G (n.879+6T>G) c.105+6T>G (n.105+6T>G) n.5542+6T>G n.5583+6T>G | ClinVar dbSNP |
17 | g.43049115A>G | CA916080836 | BRCA1 | c.5403+6T>C (n.5403+6T>C) c.5406+6T>C (n.5406+6T>C) c.5280+6T>C (n.5280+6T>C) c.5400+6T>C (n.5400+6T>C) c.5328+6T>C (n.5328+6T>C) c.2094+6T>C (n.2094+6T>C) c.1956+6T>C (n.1956+6T>C) c.4518+6T>C (n.4518+6T>C) c.5283+6T>C (n.5283+6T>C) c.5472+6T>C (n.5472+6T>C) c.5265+6T>C (n.5265+6T>C) c.1968+6T>C (n.1968+6T>C) n.1289+6T>C c.5469+6T>C (n.5469+6T>C) c.1793+6T>C c.1980+6T>C (n.1980+6T>C) c.*5189+6T>C (n.*5189+6T>C) c.2021-1412T>C (n.2021-1412T>C) c.336+6T>C (n.336+6T>C) c.879+6T>C (n.879+6T>C) c.105+6T>C (n.105+6T>C) n.5542+6T>C n.5583+6T>C | ClinVar dbSNP |
17 | g.43049115A>T | CA658656634 | BRCA1 | c.5403+6T>A (n.5403+6T>A) c.5406+6T>A (n.5406+6T>A) c.5280+6T>A (n.5280+6T>A) c.5400+6T>A (n.5400+6T>A) c.5328+6T>A (n.5328+6T>A) c.2094+6T>A (n.2094+6T>A) c.1956+6T>A (n.1956+6T>A) c.4518+6T>A (n.4518+6T>A) c.5283+6T>A (n.5283+6T>A) c.5472+6T>A (n.5472+6T>A) c.5265+6T>A (n.5265+6T>A) c.1968+6T>A (n.1968+6T>A) n.1289+6T>A c.5469+6T>A (n.5469+6T>A) c.1793+6T>A c.1980+6T>A (n.1980+6T>A) c.*5189+6T>A (n.*5189+6T>A) c.2021-1412T>A (n.2021-1412T>A) c.336+6T>A (n.336+6T>A) c.879+6T>A (n.879+6T>A) c.105+6T>A (n.105+6T>A) n.5542+6T>A n.5583+6T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43049115dup | CA2739265617 | BRCA1 | c.5403+6dup (n.5403+6dup) c.5406+6dup (n.5406+6dup) c.5280+6dup (n.5280+6dup) c.5400+6dup (n.5400+6dup) c.5328+6dup (n.5328+6dup) c.2094+6dup (n.2094+6dup) c.1956+6dup (n.1956+6dup) c.4518+6dup (n.4518+6dup) c.5283+6dup (n.5283+6dup) c.5472+6dup (n.5472+6dup) c.5265+6dup (n.5265+6dup) c.1968+6dup (n.1968+6dup) n.1289+6dup c.5469+6dup (n.5469+6dup) c.1793+6dup c.1980+6dup (n.1980+6dup) c.*5189+6dup (n.*5189+6dup) c.2021-1412dup (n.2021-1412dup) c.336+6dup (n.336+6dup) c.879+6dup (n.879+6dup) c.105+6dup (n.105+6dup) n.5542+6dup n.5583+6dup | ClinVar |
17 | g.43049116C>A | CA003561 | BRCA1 | c.5403+5G>T (n.5403+5G>T) c.5406+5G>T (n.5406+5G>T) c.5280+5G>T (n.5280+5G>T) c.5400+5G>T (n.5400+5G>T) c.5328+5G>T (n.5328+5G>T) c.2094+5G>T (n.2094+5G>T) c.1956+5G>T (n.1956+5G>T) c.4518+5G>T (n.4518+5G>T) c.5283+5G>T (n.5283+5G>T) c.5472+5G>T (n.5472+5G>T) c.5265+5G>T (n.5265+5G>T) c.1968+5G>T (n.1968+5G>T) n.1289+5G>T c.5469+5G>T (n.5469+5G>T) c.1793+5G>T c.1980+5G>T (n.1980+5G>T) c.*5189+5G>T (n.*5189+5G>T) c.2021-1413G>T (n.2021-1413G>T) c.336+5G>T (n.336+5G>T) c.879+5G>T (n.879+5G>T) c.105+5G>T (n.105+5G>T) n.5542+5G>T n.5583+5G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43049116C= | CA2260762700 | BRCA1 | c.5403+5G= (n.5403+5G=) c.5406+5G= (n.5406+5G=) c.5280+5G= (n.5280+5G=) c.5400+5G= (n.5400+5G=) c.5328+5G= (n.5328+5G=) c.2094+5G= (n.2094+5G=) c.1956+5G= (n.1956+5G=) c.4518+5G= (n.4518+5G=) c.5283+5G= (n.5283+5G=) c.5472+5G= (n.5472+5G=) c.5265+5G= (n.5265+5G=) c.1968+5G= (n.1968+5G=) n.1289+5G= c.5469+5G= (n.5469+5G=) c.1793+5G= c.1980+5G= (n.1980+5G=) c.*5189+5G= (n.*5189+5G=) c.2021-1413G= (n.2021-1413G=) c.336+5G= (n.336+5G=) c.879+5G= (n.879+5G=) c.105+5G= (n.105+5G=) n.5542+5G= n.5583+5G= | |
17 | g.43049116C>G | CA003560 | BRCA1 | c.5403+5G>C (n.5403+5G>C) c.5406+5G>C (n.5406+5G>C) c.5280+5G>C (n.5280+5G>C) c.5400+5G>C (n.5400+5G>C) c.5328+5G>C (n.5328+5G>C) c.2094+5G>C (n.2094+5G>C) c.1956+5G>C (n.1956+5G>C) c.4518+5G>C (n.4518+5G>C) c.5283+5G>C (n.5283+5G>C) c.5472+5G>C (n.5472+5G>C) c.5265+5G>C (n.5265+5G>C) c.1968+5G>C (n.1968+5G>C) n.1289+5G>C c.5469+5G>C (n.5469+5G>C) c.1793+5G>C c.1980+5G>C (n.1980+5G>C) c.*5189+5G>C (n.*5189+5G>C) c.2021-1413G>C (n.2021-1413G>C) c.336+5G>C (n.336+5G>C) c.879+5G>C (n.879+5G>C) c.105+5G>C (n.105+5G>C) n.5542+5G>C n.5583+5G>C | ClinVar dbSNP |
17 | g.43049116C>T | CA003559 | BRCA1 | c.5403+5G>A (n.5403+5G>A) c.5406+5G>A (n.5406+5G>A) c.5280+5G>A (n.5280+5G>A) c.5400+5G>A (n.5400+5G>A) c.5328+5G>A (n.5328+5G>A) c.2094+5G>A (n.2094+5G>A) c.1956+5G>A (n.1956+5G>A) c.4518+5G>A (n.4518+5G>A) c.5283+5G>A (n.5283+5G>A) c.5472+5G>A (n.5472+5G>A) c.5265+5G>A (n.5265+5G>A) c.1968+5G>A (n.1968+5G>A) n.1289+5G>A c.5469+5G>A (n.5469+5G>A) c.1793+5G>A c.1980+5G>A (n.1980+5G>A) c.*5189+5G>A (n.*5189+5G>A) c.2021-1413G>A (n.2021-1413G>A) c.336+5G>A (n.336+5G>A) c.879+5G>A (n.879+5G>A) c.105+5G>A (n.105+5G>A) n.5542+5G>A n.5583+5G>A | ClinVar dbSNP |
17 | g.43049117T>A | CA916080838 | BRCA1 | c.5403+4A>T (n.5403+4A>T) c.5406+4A>T (n.5406+4A>T) c.5280+4A>T (n.5280+4A>T) c.5400+4A>T (n.5400+4A>T) c.5328+4A>T (n.5328+4A>T) c.2094+4A>T (n.2094+4A>T) c.1956+4A>T (n.1956+4A>T) c.4518+4A>T (n.4518+4A>T) c.5283+4A>T (n.5283+4A>T) c.5472+4A>T (n.5472+4A>T) c.5265+4A>T (n.5265+4A>T) c.1968+4A>T (n.1968+4A>T) n.1289+4A>T c.5469+4A>T (n.5469+4A>T) c.1793+4A>T c.1980+4A>T (n.1980+4A>T) c.*5189+4A>T (n.*5189+4A>T) c.2021-1414A>T (n.2021-1414A>T) c.336+4A>T (n.336+4A>T) c.879+4A>T (n.879+4A>T) c.105+4A>T (n.105+4A>T) n.5542+4A>T n.5583+4A>T | ClinVar dbSNP |
17 | g.43049117T>C | CA003557 | BRCA1 | c.5403+4A>G (n.5403+4A>G) c.5406+4A>G (n.5406+4A>G) c.5280+4A>G (n.5280+4A>G) c.5400+4A>G (n.5400+4A>G) c.5328+4A>G (n.5328+4A>G) c.2094+4A>G (n.2094+4A>G) c.1956+4A>G (n.1956+4A>G) c.4518+4A>G (n.4518+4A>G) c.5283+4A>G (n.5283+4A>G) c.5472+4A>G (n.5472+4A>G) c.5265+4A>G (n.5265+4A>G) c.1968+4A>G (n.1968+4A>G) n.1289+4A>G c.5469+4A>G (n.5469+4A>G) c.1793+4A>G c.1980+4A>G (n.1980+4A>G) c.*5189+4A>G (n.*5189+4A>G) c.2021-1414A>G (n.2021-1414A>G) c.336+4A>G (n.336+4A>G) c.879+4A>G (n.879+4A>G) c.105+4A>G (n.105+4A>G) n.5542+4A>G n.5583+4A>G | ClinVar dbSNP |
17 | g.43049117T>G | CA916080837 | BRCA1 | c.5403+4A>C (n.5403+4A>C) c.5406+4A>C (n.5406+4A>C) c.5280+4A>C (n.5280+4A>C) c.5400+4A>C (n.5400+4A>C) c.5328+4A>C (n.5328+4A>C) c.2094+4A>C (n.2094+4A>C) c.1956+4A>C (n.1956+4A>C) c.4518+4A>C (n.4518+4A>C) c.5283+4A>C (n.5283+4A>C) c.5472+4A>C (n.5472+4A>C) c.5265+4A>C (n.5265+4A>C) c.1968+4A>C (n.1968+4A>C) n.1289+4A>C c.5469+4A>C (n.5469+4A>C) c.1793+4A>C c.1980+4A>C (n.1980+4A>C) c.*5189+4A>C (n.*5189+4A>C) c.2021-1414A>C (n.2021-1414A>C) c.336+4A>C (n.336+4A>C) c.879+4A>C (n.879+4A>C) c.105+4A>C (n.105+4A>C) n.5542+4A>C n.5583+4A>C | ClinVar dbSNP |
17 | g.43049117T= | CA2260762702 | BRCA1 | c.5403+4A= (n.5403+4A=) c.5406+4A= (n.5406+4A=) c.5280+4A= (n.5280+4A=) c.5400+4A= (n.5400+4A=) c.5328+4A= (n.5328+4A=) c.2094+4A= (n.2094+4A=) c.1956+4A= (n.1956+4A=) c.4518+4A= (n.4518+4A=) c.5283+4A= (n.5283+4A=) c.5472+4A= (n.5472+4A=) c.5265+4A= (n.5265+4A=) c.1968+4A= (n.1968+4A=) n.1289+4A= c.5469+4A= (n.5469+4A=) c.1793+4A= c.1980+4A= (n.1980+4A=) c.*5189+4A= (n.*5189+4A=) c.2021-1414A= (n.2021-1414A=) c.336+4A= (n.336+4A=) c.879+4A= (n.879+4A=) c.105+4A= (n.105+4A=) n.5542+4A= n.5583+4A= | |
17 | g.43049118del | CA500143271 | BRCA1 | c.5403+4del (n.5403+4del) c.5406+4del (n.5406+4del) c.5280+4del (n.5280+4del) c.5400+4del (n.5400+4del) c.5328+4del (n.5328+4del) c.2094+4del (n.2094+4del) c.1956+4del (n.1956+4del) c.4518+4del (n.4518+4del) c.5283+4del (n.5283+4del) c.5472+4del (n.5472+4del) c.5265+4del (n.5265+4del) c.1968+4del (n.1968+4del) n.1289+4del c.5469+4del (n.5469+4del) c.1793+4del c.1980+4del (n.1980+4del) c.*5189+4del (n.*5189+4del) c.2021-1414del (n.2021-1414del) c.336+4del (n.336+4del) c.879+4del (n.879+4del) c.105+4del (n.105+4del) n.5542+4del n.5583+4del | COSMIC |
17 | g.43049117_43049120delinsTTAC | CA2260762701 | BRCA1 | c.5403+1_5403+4delinsGTAA (n.5403+1_5403+4delinsGTAA) c.5406+1_5406+4delinsGTAA (n.5406+1_5406+4delinsGTAA) c.5280+1_5280+4delinsGTAA (n.5280+1_5280+4delinsGTAA) c.5400+1_5400+4delinsGTAA (n.5400+1_5400+4delinsGTAA) c.5328+1_5328+4delinsGTAA (n.5328+1_5328+4delinsGTAA) c.2094+1_2094+4delinsGTAA (n.2094+1_2094+4delinsGTAA) c.1956+1_1956+4delinsGTAA (n.1956+1_1956+4delinsGTAA) c.4518+1_4518+4delinsGTAA (n.4518+1_4518+4delinsGTAA) c.5283+1_5283+4delinsGTAA (n.5283+1_5283+4delinsGTAA) c.5472+1_5472+4delinsGTAA (n.5472+1_5472+4delinsGTAA) c.5265+1_5265+4delinsGTAA (n.5265+1_5265+4delinsGTAA) c.1968+1_1968+4delinsGTAA (n.1968+1_1968+4delinsGTAA) n.1289+1_1289+4delinsGTAA c.5469+1_5469+4delinsGTAA (n.5469+1_5469+4delinsGTAA) c.1793+1_1793+4delinsGTAA c.1980+1_1980+4delinsGTAA (n.1980+1_1980+4delinsGTAA) c.*5189+1_*5189+4delinsGTAA (n.*5189+1_*5189+4delinsGTAA) c.2021-1417_2021-1414delinsGTAA (n.2021-1417_2021-1414delinsGTAA) c.336+1_336+4delinsGTAA (n.336+1_336+4delinsGTAA) c.879+1_879+4delinsGTAA (n.879+1_879+4delinsGTAA) c.105+1_105+4delinsGTAA (n.105+1_105+4delinsGTAA) n.5542+1_5542+4delinsGTAA n.5583+1_5583+4delinsGTAA | |
17 | g.43049118T>A | CA003556 | BRCA1 | c.5403+3A>T (n.5403+3A>T) c.5406+3A>T (n.5406+3A>T) c.5280+3A>T (n.5280+3A>T) c.5400+3A>T (n.5400+3A>T) c.5328+3A>T (n.5328+3A>T) c.2094+3A>T (n.2094+3A>T) c.1956+3A>T (n.1956+3A>T) c.4518+3A>T (n.4518+3A>T) c.5283+3A>T (n.5283+3A>T) c.5472+3A>T (n.5472+3A>T) c.5265+3A>T (n.5265+3A>T) c.1968+3A>T (n.1968+3A>T) n.1289+3A>T c.5469+3A>T (n.5469+3A>T) c.1793+3A>T c.1980+3A>T (n.1980+3A>T) c.*5189+3A>T (n.*5189+3A>T) c.2021-1415A>T (n.2021-1415A>T) c.336+3A>T (n.336+3A>T) c.879+3A>T (n.879+3A>T) c.105+3A>T (n.105+3A>T) n.5542+3A>T n.5583+3A>T | ClinVar dbSNP |
17 | g.43049118T>C | CA916080840 | BRCA1 | c.5403+3A>G (n.5403+3A>G) c.5406+3A>G (n.5406+3A>G) c.5280+3A>G (n.5280+3A>G) c.5400+3A>G (n.5400+3A>G) c.5328+3A>G (n.5328+3A>G) c.2094+3A>G (n.2094+3A>G) c.1956+3A>G (n.1956+3A>G) c.4518+3A>G (n.4518+3A>G) c.5283+3A>G (n.5283+3A>G) c.5472+3A>G (n.5472+3A>G) c.5265+3A>G (n.5265+3A>G) c.1968+3A>G (n.1968+3A>G) n.1289+3A>G c.5469+3A>G (n.5469+3A>G) c.1793+3A>G c.1980+3A>G (n.1980+3A>G) c.*5189+3A>G (n.*5189+3A>G) c.2021-1415A>G (n.2021-1415A>G) c.336+3A>G (n.336+3A>G) c.879+3A>G (n.879+3A>G) c.105+3A>G (n.105+3A>G) n.5542+3A>G n.5583+3A>G | ClinVar dbSNP |
17 | g.43049118T>G | CA916080839 | BRCA1 | c.5403+3A>C (n.5403+3A>C) c.5406+3A>C (n.5406+3A>C) c.5280+3A>C (n.5280+3A>C) c.5400+3A>C (n.5400+3A>C) c.5328+3A>C (n.5328+3A>C) c.2094+3A>C (n.2094+3A>C) c.1956+3A>C (n.1956+3A>C) c.4518+3A>C (n.4518+3A>C) c.5283+3A>C (n.5283+3A>C) c.5472+3A>C (n.5472+3A>C) c.5265+3A>C (n.5265+3A>C) c.1968+3A>C (n.1968+3A>C) n.1289+3A>C c.5469+3A>C (n.5469+3A>C) c.1793+3A>C c.1980+3A>C (n.1980+3A>C) c.*5189+3A>C (n.*5189+3A>C) c.2021-1415A>C (n.2021-1415A>C) c.336+3A>C (n.336+3A>C) c.879+3A>C (n.879+3A>C) c.105+3A>C (n.105+3A>C) n.5542+3A>C n.5583+3A>C | ClinVar dbSNP |
17 | g.43049118T= | CA2260762704 | BRCA1 | c.5403+3A= (n.5403+3A=) c.5406+3A= (n.5406+3A=) c.5280+3A= (n.5280+3A=) c.5400+3A= (n.5400+3A=) c.5328+3A= (n.5328+3A=) c.2094+3A= (n.2094+3A=) c.1956+3A= (n.1956+3A=) c.4518+3A= (n.4518+3A=) c.5283+3A= (n.5283+3A=) c.5472+3A= (n.5472+3A=) c.5265+3A= (n.5265+3A=) c.1968+3A= (n.1968+3A=) n.1289+3A= c.5469+3A= (n.5469+3A=) c.1793+3A= c.1980+3A= (n.1980+3A=) c.*5189+3A= (n.*5189+3A=) c.2021-1415A= (n.2021-1415A=) c.336+3A= (n.336+3A=) c.879+3A= (n.879+3A=) c.105+3A= (n.105+3A=) n.5542+3A= n.5583+3A= | |
17 | g.43049118_43049119delinsTA | CA2260762703 | BRCA1 | c.5403+2_5403+3delinsTA (n.5403+2_5403+3delinsTA) c.5406+2_5406+3delinsTA (n.5406+2_5406+3delinsTA) c.5280+2_5280+3delinsTA (n.5280+2_5280+3delinsTA) c.5400+2_5400+3delinsTA (n.5400+2_5400+3delinsTA) c.5328+2_5328+3delinsTA (n.5328+2_5328+3delinsTA) c.2094+2_2094+3delinsTA (n.2094+2_2094+3delinsTA) c.1956+2_1956+3delinsTA (n.1956+2_1956+3delinsTA) c.4518+2_4518+3delinsTA (n.4518+2_4518+3delinsTA) c.5283+2_5283+3delinsTA (n.5283+2_5283+3delinsTA) c.5472+2_5472+3delinsTA (n.5472+2_5472+3delinsTA) c.5265+2_5265+3delinsTA (n.5265+2_5265+3delinsTA) c.1968+2_1968+3delinsTA (n.1968+2_1968+3delinsTA) n.1289+2_1289+3delinsTA c.5469+2_5469+3delinsTA (n.5469+2_5469+3delinsTA) c.1793+2_1793+3delinsTA c.1980+2_1980+3delinsTA (n.1980+2_1980+3delinsTA) c.*5189+2_*5189+3delinsTA (n.*5189+2_*5189+3delinsTA) c.2021-1416_2021-1415delinsTA (n.2021-1416_2021-1415delinsTA) c.336+2_336+3delinsTA (n.336+2_336+3delinsTA) c.879+2_879+3delinsTA (n.879+2_879+3delinsTA) c.105+2_105+3delinsTA (n.105+2_105+3delinsTA) n.5542+2_5542+3delinsTA n.5583+2_5583+3delinsTA | |
17 | g.43049119_43049121del | CA003553 | BRCA1 | c.5403+1_5403+3del c.5406+1_5406+3del c.5280+1_5280+3del c.5400+1_5400+3del c.5328+1_5328+3del c.2094+1_2094+3del c.1956+1_1956+3del c.4518+1_4518+3del c.5283+1_5283+3del c.5472+1_5472+3del c.5265+1_5265+3del c.1968+1_1968+3del n.1289+1_1289+3del c.5469+1_5469+3del c.1793+1_1793+3del c.1980+1_1980+3del c.*5189+1_*5189+3del c.2021-1417_2021-1415del (n.2021-1417_2021-1415del) c.336+1_336+3del c.879+1_879+3del c.105+1_105+3del n.5542+1_5542+3del n.5583+1_5583+3del | ClinVar dbSNP |
17 | g.43049119del | CA268394 | BRCA1 | c.5403+2del (n.5403+2del) c.5406+2del (n.5406+2del) c.5280+2del (n.5280+2del) c.5400+2del (n.5400+2del) c.5328+2del (n.5328+2del) c.2094+2del (n.2094+2del) c.1956+2del (n.1956+2del) c.4518+2del (n.4518+2del) c.5283+2del (n.5283+2del) c.5472+2del (n.5472+2del) c.5265+2del (n.5265+2del) c.1968+2del (n.1968+2del) n.1289+2del c.5469+2del (n.5469+2del) c.1793+2del c.1980+2del (n.1980+2del) c.*5189+2del (n.*5189+2del) c.2021-1416del (n.2021-1416del) c.336+2del (n.336+2del) c.879+2del (n.879+2del) c.105+2del (n.105+2del) n.5542+2del n.5583+2del | ClinVar dbSNP |
17 | g.43049119A= | CA2260762705 | BRCA1 | c.5403+2T= (n.5403+2T=) c.5406+2T= (n.5406+2T=) c.5280+2T= (n.5280+2T=) c.5400+2T= (n.5400+2T=) c.5328+2T= (n.5328+2T=) c.2094+2T= (n.2094+2T=) c.1956+2T= (n.1956+2T=) c.4518+2T= (n.4518+2T=) c.5283+2T= (n.5283+2T=) c.5472+2T= (n.5472+2T=) c.5265+2T= (n.5265+2T=) c.1968+2T= (n.1968+2T=) n.1289+2T= c.5469+2T= (n.5469+2T=) c.1793+2T= c.1980+2T= (n.1980+2T=) c.*5189+2T= (n.*5189+2T=) c.2021-1416T= (n.2021-1416T=) c.336+2T= (n.336+2T=) c.879+2T= (n.879+2T=) c.105+2T= (n.105+2T=) n.5542+2T= n.5583+2T= | |
17 | g.43049119A>C | CA10590661 | BRCA1 | c.5403+2T>G (n.5403+2T>G) c.5406+2T>G (n.5406+2T>G) c.5280+2T>G (n.5280+2T>G) c.5400+2T>G (n.5400+2T>G) c.5328+2T>G (n.5328+2T>G) c.2094+2T>G (n.2094+2T>G) c.1956+2T>G (n.1956+2T>G) c.4518+2T>G (n.4518+2T>G) c.5283+2T>G (n.5283+2T>G) c.5472+2T>G (n.5472+2T>G) c.5265+2T>G (n.5265+2T>G) c.1968+2T>G (n.1968+2T>G) n.1289+2T>G c.5469+2T>G (n.5469+2T>G) c.1793+2T>G c.1980+2T>G (n.1980+2T>G) c.*5189+2T>G (n.*5189+2T>G) c.2021-1416T>G (n.2021-1416T>G) c.336+2T>G (n.336+2T>G) c.879+2T>G (n.879+2T>G) c.105+2T>G (n.105+2T>G) n.5542+2T>G n.5583+2T>G | ClinVar dbSNP |
17 | g.43049119A>G | CA10590662 | BRCA1 | c.5403+2T>C (n.5403+2T>C) c.5406+2T>C (n.5406+2T>C) c.5280+2T>C (n.5280+2T>C) c.5400+2T>C (n.5400+2T>C) c.5328+2T>C (n.5328+2T>C) c.2094+2T>C (n.2094+2T>C) c.1956+2T>C (n.1956+2T>C) c.4518+2T>C (n.4518+2T>C) c.5283+2T>C (n.5283+2T>C) c.5472+2T>C (n.5472+2T>C) c.5265+2T>C (n.5265+2T>C) c.1968+2T>C (n.1968+2T>C) n.1289+2T>C c.5469+2T>C (n.5469+2T>C) c.1793+2T>C c.1980+2T>C (n.1980+2T>C) c.*5189+2T>C (n.*5189+2T>C) c.2021-1416T>C (n.2021-1416T>C) c.336+2T>C (n.336+2T>C) c.879+2T>C (n.879+2T>C) c.105+2T>C (n.105+2T>C) n.5542+2T>C n.5583+2T>C | ClinVar dbSNP |
17 | g.43049119A>T | CA10590663 | BRCA1 | c.5403+2T>A (n.5403+2T>A) c.5406+2T>A (n.5406+2T>A) c.5280+2T>A (n.5280+2T>A) c.5400+2T>A (n.5400+2T>A) c.5328+2T>A (n.5328+2T>A) c.2094+2T>A (n.2094+2T>A) c.1956+2T>A (n.1956+2T>A) c.4518+2T>A (n.4518+2T>A) c.5283+2T>A (n.5283+2T>A) c.5472+2T>A (n.5472+2T>A) c.5265+2T>A (n.5265+2T>A) c.1968+2T>A (n.1968+2T>A) n.1289+2T>A c.5469+2T>A (n.5469+2T>A) c.1793+2T>A c.1980+2T>A (n.1980+2T>A) c.*5189+2T>A (n.*5189+2T>A) c.2021-1416T>A (n.2021-1416T>A) c.336+2T>A (n.336+2T>A) c.879+2T>A (n.879+2T>A) c.105+2T>A (n.105+2T>A) n.5542+2T>A n.5583+2T>A | ClinVar dbSNP |
17 | g.43049121_43049153del | CA2499224354 | BRCA1 | c.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 |
17 | g.43049119_43049195del | CA2499224355 | BRCA1 | c.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 |
17 | g.43049120C>A | CA10590664 | BRCA1 | c.5403+1G>T (n.5403+1G>T) c.5406+1G>T (n.5406+1G>T) c.5280+1G>T (n.5280+1G>T) c.5400+1G>T (n.5400+1G>T) c.5328+1G>T (n.5328+1G>T) c.2094+1G>T (n.2094+1G>T) c.1956+1G>T (n.1956+1G>T) c.4518+1G>T (n.4518+1G>T) c.5283+1G>T (n.5283+1G>T) c.5472+1G>T (n.5472+1G>T) c.5265+1G>T (n.5265+1G>T) c.1968+1G>T (n.1968+1G>T) n.1289+1G>T c.5469+1G>T (n.5469+1G>T) c.1793+1G>T c.1980+1G>T (n.1980+1G>T) c.*5189+1G>T (n.*5189+1G>T) c.2021-1417G>T (n.2021-1417G>T) c.336+1G>T (n.336+1G>T) c.879+1G>T (n.879+1G>T) c.105+1G>T (n.105+1G>T) n.5542+1G>T n.5583+1G>T | ClinVar dbSNP |
17 | g.43049120C= | CA2260762706 | BRCA1 | c.5403+1G= (n.5403+1G=) c.5406+1G= (n.5406+1G=) c.5280+1G= (n.5280+1G=) c.5400+1G= (n.5400+1G=) c.5328+1G= (n.5328+1G=) c.2094+1G= (n.2094+1G=) c.1956+1G= (n.1956+1G=) c.4518+1G= (n.4518+1G=) c.5283+1G= (n.5283+1G=) c.5472+1G= (n.5472+1G=) c.5265+1G= (n.5265+1G=) c.1968+1G= (n.1968+1G=) n.1289+1G= c.5469+1G= (n.5469+1G=) c.1793+1G= c.1980+1G= (n.1980+1G=) c.*5189+1G= (n.*5189+1G=) c.2021-1417G= (n.2021-1417G=) c.336+1G= (n.336+1G=) c.879+1G= (n.879+1G=) c.105+1G= (n.105+1G=) n.5542+1G= n.5583+1G= | |
17 | g.43049120C>G | CA10590665 | BRCA1 | c.5403+1G>C (n.5403+1G>C) c.5406+1G>C (n.5406+1G>C) c.5280+1G>C (n.5280+1G>C) c.5400+1G>C (n.5400+1G>C) c.5328+1G>C (n.5328+1G>C) c.2094+1G>C (n.2094+1G>C) c.1956+1G>C (n.1956+1G>C) c.4518+1G>C (n.4518+1G>C) c.5283+1G>C (n.5283+1G>C) c.5472+1G>C (n.5472+1G>C) c.5265+1G>C (n.5265+1G>C) c.1968+1G>C (n.1968+1G>C) n.1289+1G>C c.5469+1G>C (n.5469+1G>C) c.1793+1G>C c.1980+1G>C (n.1980+1G>C) c.*5189+1G>C (n.*5189+1G>C) c.2021-1417G>C (n.2021-1417G>C) c.336+1G>C (n.336+1G>C) c.879+1G>C (n.879+1G>C) c.105+1G>C (n.105+1G>C) n.5542+1G>C n.5583+1G>C | ClinVar dbSNP |
17 | g.43049120C>T | CA003554 | BRCA1 | c.5403+1G>A (n.5403+1G>A) c.5406+1G>A (n.5406+1G>A) c.5280+1G>A (n.5280+1G>A) c.5400+1G>A (n.5400+1G>A) c.5328+1G>A (n.5328+1G>A) c.2094+1G>A (n.2094+1G>A) c.1956+1G>A (n.1956+1G>A) c.4518+1G>A (n.4518+1G>A) c.5283+1G>A (n.5283+1G>A) c.5472+1G>A (n.5472+1G>A) c.5265+1G>A (n.5265+1G>A) c.1968+1G>A (n.1968+1G>A) n.1289+1G>A c.5469+1G>A (n.5469+1G>A) c.1793+1G>A c.1980+1G>A (n.1980+1G>A) c.*5189+1G>A (n.*5189+1G>A) c.2021-1417G>A (n.2021-1417G>A) c.336+1G>A (n.336+1G>A) c.879+1G>A (n.879+1G>A) c.105+1G>A (n.105+1G>A) n.5542+1G>A n.5583+1G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43049120_43049194delinsCTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGAT | CA2260762707 | BRCA1 | c.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 | |
17 | g.43049121del | CA2580093948 | BRCA1 | c.5403del (p.Gly1802ValfsTer?) c.5406del (p.Gly1803ValfsTer?) c.5280del (p.Gly1761ValfsTer?) c.5400del (p.Gly1801ValfsTer?) c.5328del (p.Gly1777ValfsTer?) c.2094del (p.Gly699ValfsTer?) c.1956del (p.Gly653ValfsTer?) c.4518del (p.Gly1507ValfsTer?) c.5283del (p.Gly1762ValfsTer?) c.5472del (p.Gly1825ValfsTer?) c.5265del (p.Gly1756ValfsTer?) c.1968del (p.Gly657ValfsTer?) n.1289del c.5469del (p.Gly1824ValfsTer?) c.1793del c.1980del (p.Gly661ValfsTer?) c.*5189del (n.*5189del) c.2021-1418del (n.2021-1418del) c.336del (p.Gly113ValfsTer?) c.879del (p.Gly294ValfsTer?) c.105del (p.Gly36ValfsTer?) n.5542del n.5583del | ClinVar |
17 | g.43049121T>A | CA500143272 | BRCA1 | c.5403A>T (p.Thr1801=) c.5406A>T (p.Thr1802=) c.5280A>T (p.Thr1760=) c.5400A>T (p.Thr1800=) c.5328A>T (p.Thr1776=) c.2094A>T (p.Thr698=) c.1956A>T (p.Thr652=) c.4518A>T (p.Thr1506=) c.5283A>T (p.Thr1761=) c.5472A>T (p.Thr1824=) c.5265A>T (p.Thr1755=) c.1968A>T (p.Thr656=) n.1289A>T c.5469A>T (p.Thr1823=) c.1793A>T c.1980A>T (p.Thr660=) c.*5189A>T (n.*5189A>T) c.2021-1418A>T (n.2021-1418A>T) c.336A>T (p.Thr112=) c.879A>T (p.Thr293=) c.105A>T (p.Thr35=) n.5542A>T n.5583A>T | ClinVar dbSNP |
17 | g.43049121T>C | CA500143273 | BRCA1 | c.5403A>G (p.Thr1801=) c.5406A>G (p.Thr1802=) c.5280A>G (p.Thr1760=) c.5400A>G (p.Thr1800=) c.5328A>G (p.Thr1776=) c.2094A>G (p.Thr698=) c.1956A>G (p.Thr652=) c.4518A>G (p.Thr1506=) c.5283A>G (p.Thr1761=) c.5472A>G (p.Thr1824=) c.5265A>G (p.Thr1755=) c.1968A>G (p.Thr656=) n.1289A>G c.5469A>G (p.Thr1823=) c.1793A>G c.1980A>G (p.Thr660=) c.*5189A>G (n.*5189A>G) c.2021-1418A>G (n.2021-1418A>G) c.336A>G (p.Thr112=) c.879A>G (p.Thr293=) c.105A>G (p.Thr35=) n.5542A>G n.5583A>G | ClinVar dbSNP |
17 | g.43049121T>G | CA10586115 | BRCA1 | c.5403A>C (p.Thr1801=) c.5406A>C (p.Thr1802=) c.5280A>C (p.Thr1760=) c.5400A>C (p.Thr1800=) c.5328A>C (p.Thr1776=) c.2094A>C (p.Thr698=) c.1956A>C (p.Thr652=) c.4518A>C (p.Thr1506=) c.5283A>C (p.Thr1761=) c.5472A>C (p.Thr1824=) c.5265A>C (p.Thr1755=) c.1968A>C (p.Thr656=) n.1289A>C c.5469A>C (p.Thr1823=) c.1793A>C c.1980A>C (p.Thr660=) c.*5189A>C (n.*5189A>C) c.2021-1418A>C (n.2021-1418A>C) c.336A>C (p.Thr112=) c.879A>C (p.Thr293=) c.105A>C (p.Thr35=) n.5542A>C n.5583A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43049121T= | CA2260762708 | BRCA1 | c.5403A= (p.Thr1801=) c.5406A= (p.Thr1802=) c.5280A= (p.Thr1760=) c.5400A= (p.Thr1800=) c.5328A= (p.Thr1776=) c.2094A= (p.Thr698=) c.1956A= (p.Thr652=) c.4518A= (p.Thr1506=) c.5283A= (p.Thr1761=) c.5472A= (p.Thr1824=) c.5265A= (p.Thr1755=) c.1968A= (p.Thr656=) n.1289A= c.5469A= (p.Thr1823=) c.1793A= c.1980A= (p.Thr660=) c.*5189A= (n.*5189A=) c.2021-1418A= (n.2021-1418A=) c.336A= (p.Thr112=) c.879A= (p.Thr293=) c.105A= (p.Thr35=) n.5542A= n.5583A= | |
17 | g.43049121_43049194del | CA1139665551 | BRCA1 | c.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 |
17 | g.43049122G>A | CA10590666 | BRCA1 | c.5402C>T (p.Thr1801Ile) c.5405C>T (p.Thr1802Ile) c.5279C>T (p.Thr1760Ile) c.5399C>T (p.Thr1800Ile) c.5327C>T (p.Thr1776Ile) c.2093C>T (p.Thr698Ile) c.1955C>T (p.Thr652Ile) c.4517C>T (p.Thr1506Ile) c.5282C>T (p.Thr1761Ile) c.5471C>T (p.Thr1824Ile) c.5264C>T (p.Thr1755Ile) c.1967C>T (p.Thr656Ile) n.1288C>T c.5468C>T (p.Thr1823Ile) c.1792C>T c.1979C>T (p.Thr660Ile) c.*5188C>T (n.*5188C>T) c.2021-1419C>T (n.2021-1419C>T) c.335C>T (p.Thr112Ile) c.878C>T (p.Thr293Ile) c.104C>T (p.Thr35Ile) n.5541C>T n.5582C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43049122G>C | CA10590667 | BRCA1 | c.5402C>G (p.Thr1801Arg) c.5405C>G (p.Thr1802Arg) c.5279C>G (p.Thr1760Arg) c.5399C>G (p.Thr1800Arg) c.5327C>G (p.Thr1776Arg) c.2093C>G (p.Thr698Arg) c.1955C>G (p.Thr652Arg) c.4517C>G (p.Thr1506Arg) c.5282C>G (p.Thr1761Arg) c.5471C>G (p.Thr1824Arg) c.5264C>G (p.Thr1755Arg) c.1967C>G (p.Thr656Arg) n.1288C>G c.5468C>G (p.Thr1823Arg) c.1792C>G c.1979C>G (p.Thr660Arg) c.*5188C>G (n.*5188C>G) c.2021-1419C>G (n.2021-1419C>G) c.335C>G (p.Thr112Arg) c.878C>G (p.Thr293Arg) c.104C>G (p.Thr35Arg) n.5541C>G n.5582C>G | ClinVar dbSNP |
17 | g.43049122G= | CA2260762709 | BRCA1 | c.5402C= (p.Thr1801=) c.5405C= (p.Thr1802=) c.5279C= (p.Thr1760=) c.5399C= (p.Thr1800=) c.5327C= (p.Thr1776=) c.2093C= (p.Thr698=) c.1955C= (p.Thr652=) c.4517C= (p.Thr1506=) c.5282C= (p.Thr1761=) c.5471C= (p.Thr1824=) c.5264C= (p.Thr1755=) c.1967C= (p.Thr656=) n.1288C= c.5468C= (p.Thr1823=) c.1792C= c.1979C= (p.Thr660=) c.*5188C= (n.*5188C=) c.2021-1419C= (n.2021-1419C=) c.335C= (p.Thr112=) c.878C= (p.Thr293=) c.104C= (p.Thr35=) n.5541C= n.5582C= | |
17 | g.43049122G>T | CA10590668 | BRCA1 | c.5402C>A (p.Thr1801Lys) c.5405C>A (p.Thr1802Lys) c.5279C>A (p.Thr1760Lys) c.5399C>A (p.Thr1800Lys) c.5327C>A (p.Thr1776Lys) c.2093C>A (p.Thr698Lys) c.1955C>A (p.Thr652Lys) c.4517C>A (p.Thr1506Lys) c.5282C>A (p.Thr1761Lys) c.5471C>A (p.Thr1824Lys) c.5264C>A (p.Thr1755Lys) c.1967C>A (p.Thr656Lys) n.1288C>A c.5468C>A (p.Thr1823Lys) c.1792C>A c.1979C>A (p.Thr660Lys) c.*5188C>A (n.*5188C>A) c.2021-1419C>A (n.2021-1419C>A) c.335C>A (p.Thr112Lys) c.878C>A (p.Thr293Lys) c.104C>A (p.Thr35Lys) n.5541C>A n.5582C>A | ClinVar dbSNP |
17 | g.43049122_43049137dup | CA919844191 | BRCA1 | c.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 |
17 | g.43049123T>A | CA10590669 | BRCA1 | c.5401A>T (p.Thr1801Ser) c.5404A>T (p.Thr1802Ser) c.5278A>T (p.Thr1760Ser) c.5398A>T (p.Thr1800Ser) c.5326A>T (p.Thr1776Ser) c.2092A>T (p.Thr698Ser) c.1954A>T (p.Thr652Ser) c.4516A>T (p.Thr1506Ser) c.5281A>T (p.Thr1761Ser) c.5470A>T (p.Thr1824Ser) c.5263A>T (p.Thr1755Ser) c.1966A>T (p.Thr656Ser) n.1287A>T c.5467A>T (p.Thr1823Ser) c.1791A>T c.1978A>T (p.Thr660Ser) c.*5187A>T (n.*5187A>T) c.2021-1420A>T (n.2021-1420A>T) c.334A>T (p.Thr112Ser) c.877A>T (p.Thr293Ser) c.103A>T (p.Thr35Ser) n.5540A>T n.5581A>T | ClinVar dbSNP |
17 | g.43049123T>C | CA10590670 | BRCA1 | c.5401A>G (p.Thr1801Ala) c.5404A>G (p.Thr1802Ala) c.5278A>G (p.Thr1760Ala) c.5398A>G (p.Thr1800Ala) c.5326A>G (p.Thr1776Ala) c.2092A>G (p.Thr698Ala) c.1954A>G (p.Thr652Ala) c.4516A>G (p.Thr1506Ala) c.5281A>G (p.Thr1761Ala) c.5470A>G (p.Thr1824Ala) c.5263A>G (p.Thr1755Ala) c.1966A>G (p.Thr656Ala) n.1287A>G c.5467A>G (p.Thr1823Ala) c.1791A>G c.1978A>G (p.Thr660Ala) c.*5187A>G (n.*5187A>G) c.2021-1420A>G (n.2021-1420A>G) c.334A>G (p.Thr112Ala) c.877A>G (p.Thr293Ala) c.103A>G (p.Thr35Ala) n.5540A>G n.5581A>G | ClinVar dbSNP |
17 | g.43049123T>G | CA10590671 | BRCA1 | c.5401A>C (p.Thr1801Pro) c.5404A>C (p.Thr1802Pro) c.5278A>C (p.Thr1760Pro) c.5398A>C (p.Thr1800Pro) c.5326A>C (p.Thr1776Pro) c.2092A>C (p.Thr698Pro) c.1954A>C (p.Thr652Pro) c.4516A>C (p.Thr1506Pro) c.5281A>C (p.Thr1761Pro) c.5470A>C (p.Thr1824Pro) c.5263A>C (p.Thr1755Pro) c.1966A>C (p.Thr656Pro) n.1287A>C c.5467A>C (p.Thr1823Pro) c.1791A>C c.1978A>C (p.Thr660Pro) c.*5187A>C (n.*5187A>C) c.2021-1420A>C (n.2021-1420A>C) c.334A>C (p.Thr112Pro) c.877A>C (p.Thr293Pro) c.103A>C (p.Thr35Pro) n.5540A>C n.5581A>C | ClinVar dbSNP |
17 | g.43049123T= | CA2260762710 | BRCA1 | c.5401A= (p.Thr1801=) c.5404A= (p.Thr1802=) c.5278A= (p.Thr1760=) c.5398A= (p.Thr1800=) c.5326A= (p.Thr1776=) c.2092A= (p.Thr698=) c.1954A= (p.Thr652=) c.4516A= (p.Thr1506=) c.5281A= (p.Thr1761=) c.5470A= (p.Thr1824=) c.5263A= (p.Thr1755=) c.1966A= (p.Thr656=) n.1287A= c.5467A= (p.Thr1823=) c.1791A= c.1978A= (p.Thr660=) c.*5187A= (n.*5187A=) c.2021-1420A= (n.2021-1420A=) c.334A= (p.Thr112=) c.877A= (p.Thr293=) c.103A= (p.Thr35=) n.5540A= n.5581A= | |
17 | g.43049124G>A | CA500143276 | BRCA1 | c.5400C>T (p.Gly1800=) c.5403C>T (p.Gly1801=) c.5277C>T (p.Gly1759=) c.5397C>T (p.Gly1799=) c.5325C>T (p.Gly1775=) c.2091C>T (p.Gly697=) c.1953C>T (p.Gly651=) c.4515C>T (p.Gly1505=) c.5280C>T (p.Gly1760=) c.5469C>T (p.Gly1823=) c.5262C>T (p.Gly1754=) c.1965C>T (p.Gly655=) n.1286C>T c.5466C>T (p.Gly1822=) c.1790C>T c.1977C>T (p.Gly659=) c.*5186C>T (n.*5186C>T) c.2021-1421C>T (n.2021-1421C>T) c.333C>T (p.Gly111=) c.876C>T (p.Gly292=) c.102C>T (p.Gly34=) n.5539C>T n.5580C>T | ClinVar dbSNP |
17 | g.43049124G>C | CA500143274 | BRCA1 | c.5400C>G (p.Gly1800=) c.5403C>G (p.Gly1801=) c.5277C>G (p.Gly1759=) c.5397C>G (p.Gly1799=) c.5325C>G (p.Gly1775=) c.2091C>G (p.Gly697=) c.1953C>G (p.Gly651=) c.4515C>G (p.Gly1505=) c.5280C>G (p.Gly1760=) c.5469C>G (p.Gly1823=) c.5262C>G (p.Gly1754=) c.1965C>G (p.Gly655=) n.1286C>G c.5466C>G (p.Gly1822=) c.1790C>G c.1977C>G (p.Gly659=) c.*5186C>G (n.*5186C>G) c.2021-1421C>G (n.2021-1421C>G) c.333C>G (p.Gly111=) c.876C>G (p.Gly292=) c.102C>G (p.Gly34=) n.5539C>G n.5580C>G | ClinVar dbSNP |
17 | g.43049124G= | CA2260762711 | BRCA1 | c.5400C= (p.Gly1800=) c.5403C= (p.Gly1801=) c.5277C= (p.Gly1759=) c.5397C= (p.Gly1799=) c.5325C= (p.Gly1775=) c.2091C= (p.Gly697=) c.1953C= (p.Gly651=) c.4515C= (p.Gly1505=) c.5280C= (p.Gly1760=) c.5469C= (p.Gly1823=) c.5262C= (p.Gly1754=) c.1965C= (p.Gly655=) n.1286C= c.5466C= (p.Gly1822=) c.1790C= c.1977C= (p.Gly659=) c.*5186C= (n.*5186C=) c.2021-1421C= (n.2021-1421C=) c.333C= (p.Gly111=) c.876C= (p.Gly292=) c.102C= (p.Gly34=) n.5539C= n.5580C= | |
17 | g.43049124G>T | CA500143275 | BRCA1 | c.5400C>A (p.Gly1800=) c.5403C>A (p.Gly1801=) c.5277C>A (p.Gly1759=) c.5397C>A (p.Gly1799=) c.5325C>A (p.Gly1775=) c.2091C>A (p.Gly697=) c.1953C>A (p.Gly651=) c.4515C>A (p.Gly1505=) c.5280C>A (p.Gly1760=) c.5469C>A (p.Gly1823=) c.5262C>A (p.Gly1754=) c.1965C>A (p.Gly655=) n.1286C>A c.5466C>A (p.Gly1822=) c.1790C>A c.1977C>A (p.Gly659=) c.*5186C>A (n.*5186C>A) c.2021-1421C>A (n.2021-1421C>A) c.333C>A (p.Gly111=) c.876C>A (p.Gly292=) c.102C>A (p.Gly34=) n.5539C>A n.5580C>A | ClinVar dbSNP |
17 | g.43049125_43049131del | CA658761190 | BRCA1 | c.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 | |
17 | g.43049125C>A | CA10590672 | BRCA1 | c.5399G>T (p.Gly1800Val) c.5402G>T (p.Gly1801Val) c.5276G>T (p.Gly1759Val) c.5396G>T (p.Gly1799Val) c.5324G>T (p.Gly1775Val) c.2090G>T (p.Gly697Val) c.1952G>T (p.Gly651Val) c.4514G>T (p.Gly1505Val) c.5279G>T (p.Gly1760Val) c.5468G>T (p.Gly1823Val) c.5261G>T (p.Gly1754Val) c.1964G>T (p.Gly655Val) n.1285G>T c.5465G>T (p.Gly1822Val) c.1789G>T c.1976G>T (p.Gly659Val) c.*5185G>T (n.*5185G>T) c.2021-1422G>T (n.2021-1422G>T) c.332G>T (p.Gly111Val) c.875G>T (p.Gly292Val) c.101G>T (p.Gly34Val) n.5538G>T n.5579G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43049125C= | CA2260762712 | BRCA1 | c.5399G= (p.Gly1800=) c.5402G= (p.Gly1801=) c.5276G= (p.Gly1759=) c.5396G= (p.Gly1799=) c.5324G= (p.Gly1775=) c.2090G= (p.Gly697=) c.1952G= (p.Gly651=) c.4514G= (p.Gly1505=) c.5279G= (p.Gly1760=) c.5468G= (p.Gly1823=) c.5261G= (p.Gly1754=) c.1964G= (p.Gly655=) n.1285G= c.5465G= (p.Gly1822=) c.1789G= c.1976G= (p.Gly659=) c.*5185G= (n.*5185G=) c.2021-1422G= (n.2021-1422G=) c.332G= (p.Gly111=) c.875G= (p.Gly292=) c.101G= (p.Gly34=) n.5538G= n.5579G= | |
17 | g.43049125C>G | CA10590673 | BRCA1 | c.5399G>C (p.Gly1800Ala) c.5402G>C (p.Gly1801Ala) c.5276G>C (p.Gly1759Ala) c.5396G>C (p.Gly1799Ala) c.5324G>C (p.Gly1775Ala) c.2090G>C (p.Gly697Ala) c.1952G>C (p.Gly651Ala) c.4514G>C (p.Gly1505Ala) c.5279G>C (p.Gly1760Ala) c.5468G>C (p.Gly1823Ala) c.5261G>C (p.Gly1754Ala) c.1964G>C (p.Gly655Ala) n.1285G>C c.5465G>C (p.Gly1822Ala) c.1789G>C c.1976G>C (p.Gly659Ala) c.*5185G>C (n.*5185G>C) c.2021-1422G>C (n.2021-1422G>C) c.332G>C (p.Gly111Ala) c.875G>C (p.Gly292Ala) c.101G>C (p.Gly34Ala) n.5538G>C n.5579G>C | ClinVar dbSNP |
17 | g.43049125C>T | CA003552 | BRCA1 | c.5399G>A (p.Gly1800Asp) c.5402G>A (p.Gly1801Asp) c.5276G>A (p.Gly1759Asp) c.5396G>A (p.Gly1799Asp) c.5324G>A (p.Gly1775Asp) c.2090G>A (p.Gly697Asp) c.1952G>A (p.Gly651Asp) c.4514G>A (p.Gly1505Asp) c.5279G>A (p.Gly1760Asp) c.5468G>A (p.Gly1823Asp) c.5261G>A (p.Gly1754Asp) c.1964G>A (p.Gly655Asp) n.1285G>A c.5465G>A (p.Gly1822Asp) c.1789G>A c.1976G>A (p.Gly659Asp) c.*5185G>A (n.*5185G>A) c.2021-1422G>A (n.2021-1422G>A) c.332G>A (p.Gly111Asp) c.875G>A (p.Gly292Asp) c.101G>A (p.Gly34Asp) n.5538G>A n.5579G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.43049126C>A | CA10590674 | BRCA1 | c.5398G>T (p.Gly1800Cys) c.5401G>T (p.Gly1801Cys) c.5275G>T (p.Gly1759Cys) c.5395G>T (p.Gly1799Cys) c.5323G>T (p.Gly1775Cys) c.2089G>T (p.Gly697Cys) c.1951G>T (p.Gly651Cys) c.4513G>T (p.Gly1505Cys) c.5278G>T (p.Gly1760Cys) c.5467G>T (p.Gly1823Cys) c.5260G>T (p.Gly1754Cys) c.1963G>T (p.Gly655Cys) n.1284G>T c.5464G>T (p.Gly1822Cys) c.1788G>T c.1975G>T (p.Gly659Cys) c.*5184G>T (n.*5184G>T) c.2021-1423G>T (n.2021-1423G>T) c.331G>T (p.Gly111Cys) c.874G>T (p.Gly292Cys) c.100G>T (p.Gly34Cys) n.5537G>T n.5578G>T | ClinVar dbSNP |
17 | g.43049126C= | CA2260762713 | BRCA1 | c.5398G= (p.Gly1800=) c.5401G= (p.Gly1801=) c.5275G= (p.Gly1759=) c.5395G= (p.Gly1799=) c.5323G= (p.Gly1775=) c.2089G= (p.Gly697=) c.1951G= (p.Gly651=) c.4513G= (p.Gly1505=) c.5278G= (p.Gly1760=) c.5467G= (p.Gly1823=) c.5260G= (p.Gly1754=) c.1963G= (p.Gly655=) n.1284G= c.5464G= (p.Gly1822=) c.1788G= c.1975G= (p.Gly659=) c.*5184G= (n.*5184G=) c.2021-1423G= (n.2021-1423G=) c.331G= (p.Gly111=) c.874G= (p.Gly292=) c.100G= (p.Gly34=) n.5537G= n.5578G= | |
17 | g.43049126C>G | CA10590675 | BRCA1 | c.5398G>C (p.Gly1800Arg) c.5401G>C (p.Gly1801Arg) c.5275G>C (p.Gly1759Arg) c.5395G>C (p.Gly1799Arg) c.5323G>C (p.Gly1775Arg) c.2089G>C (p.Gly697Arg) c.1951G>C (p.Gly651Arg) c.4513G>C (p.Gly1505Arg) c.5278G>C (p.Gly1760Arg) c.5467G>C (p.Gly1823Arg) c.5260G>C (p.Gly1754Arg) c.1963G>C (p.Gly655Arg) n.1284G>C c.5464G>C (p.Gly1822Arg) c.1788G>C c.1975G>C (p.Gly659Arg) c.*5184G>C (n.*5184G>C) c.2021-1423G>C (n.2021-1423G>C) c.331G>C (p.Gly111Arg) c.874G>C (p.Gly292Arg) c.100G>C (p.Gly34Arg) n.5537G>C n.5578G>C | ClinVar dbSNP |
17 | g.43049126C>T | CA003551 | BRCA1 | c.5398G>A (p.Gly1800Ser) c.5401G>A (p.Gly1801Ser) c.5275G>A (p.Gly1759Ser) c.5395G>A (p.Gly1799Ser) c.5323G>A (p.Gly1775Ser) c.2089G>A (p.Gly697Ser) c.1951G>A (p.Gly651Ser) c.4513G>A (p.Gly1505Ser) c.5278G>A (p.Gly1760Ser) c.5467G>A (p.Gly1823Ser) c.5260G>A (p.Gly1754Ser) c.1963G>A (p.Gly655Ser) n.1284G>A c.5464G>A (p.Gly1822Ser) c.1788G>A c.1975G>A (p.Gly659Ser) c.*5184G>A (n.*5184G>A) c.2021-1423G>A (n.2021-1423G>A) c.331G>A (p.Gly111Ser) c.874G>A (p.Gly292Ser) c.100G>A (p.Gly34Ser) n.5537G>A n.5578G>A | ClinVar dbSNP |
17 | g.43049127A= | CA2260762714 | BRCA1 | c.5397T= (p.Leu1799=) c.5400T= (p.Leu1800=) c.5274T= (p.Leu1758=) c.5394T= (p.Leu1798=) c.5322T= (p.Leu1774=) c.2088T= (p.Leu696=) c.1950T= (p.Leu650=) c.4512T= (p.Leu1504=) c.5277T= (p.Leu1759=) c.5466T= (p.Leu1822=) c.5259T= (p.Leu1753=) c.1962T= (p.Leu654=) n.1283T= c.5463T= (p.Leu1821=) c.1787T= c.1974T= (p.Leu658=) c.*5183T= (n.*5183T=) c.2021-1424T= (n.2021-1424T=) c.330T= (p.Leu110=) c.873T= (p.Leu291=) c.99T= (p.Leu33=) n.5536T= n.5577T= | |
17 | g.43049127A>C | CA500143277 | BRCA1 | c.5397T>G (p.Leu1799=) c.5400T>G (p.Leu1800=) c.5274T>G (p.Leu1758=) c.5394T>G (p.Leu1798=) c.5322T>G (p.Leu1774=) c.2088T>G (p.Leu696=) c.1950T>G (p.Leu650=) c.4512T>G (p.Leu1504=) c.5277T>G (p.Leu1759=) c.5466T>G (p.Leu1822=) c.5259T>G (p.Leu1753=) c.1962T>G (p.Leu654=) n.1283T>G c.5463T>G (p.Leu1821=) c.1787T>G c.1974T>G (p.Leu658=) c.*5183T>G (n.*5183T>G) c.2021-1424T>G (n.2021-1424T>G) c.330T>G (p.Leu110=) c.873T>G (p.Leu291=) c.99T>G (p.Leu33=) n.5536T>G n.5577T>G | ClinVar dbSNP |
17 | g.43049127A>G | CA500143278 | BRCA1 | c.5397T>C (p.Leu1799=) c.5400T>C (p.Leu1800=) c.5274T>C (p.Leu1758=) c.5394T>C (p.Leu1798=) c.5322T>C (p.Leu1774=) c.2088T>C (p.Leu696=) c.1950T>C (p.Leu650=) c.4512T>C (p.Leu1504=) c.5277T>C (p.Leu1759=) c.5466T>C (p.Leu1822=) c.5259T>C (p.Leu1753=) c.1962T>C (p.Leu654=) n.1283T>C c.5463T>C (p.Leu1821=) c.1787T>C c.1974T>C (p.Leu658=) c.*5183T>C (n.*5183T>C) c.2021-1424T>C (n.2021-1424T>C) c.330T>C (p.Leu110=) c.873T>C (p.Leu291=) c.99T>C (p.Leu33=) n.5536T>C n.5577T>C | ClinVar dbSNP |
17 | g.43049127A>T | CA500143279 | BRCA1 | c.5397T>A (p.Leu1799=) c.5400T>A (p.Leu1800=) c.5274T>A (p.Leu1758=) c.5394T>A (p.Leu1798=) c.5322T>A (p.Leu1774=) c.2088T>A (p.Leu696=) c.1950T>A (p.Leu650=) c.4512T>A (p.Leu1504=) c.5277T>A (p.Leu1759=) c.5466T>A (p.Leu1822=) c.5259T>A (p.Leu1753=) c.1962T>A (p.Leu654=) n.1283T>A c.5463T>A (p.Leu1821=) c.1787T>A c.1974T>A (p.Leu658=) c.*5183T>A (n.*5183T>A) c.2021-1424T>A (n.2021-1424T>A) c.330T>A (p.Leu110=) c.873T>A (p.Leu291=) c.99T>A (p.Leu33=) n.5536T>A n.5577T>A | ClinVar dbSNP |
17 | g.43049128A= | CA2260762715 | BRCA1 | c.5396T= (p.Leu1799=) c.5399T= (p.Leu1800=) c.5273T= (p.Leu1758=) c.5393T= (p.Leu1798=) c.5321T= (p.Leu1774=) c.2087T= (p.Leu696=) c.1949T= (p.Leu650=) c.4511T= (p.Leu1504=) c.5276T= (p.Leu1759=) c.5465T= (p.Leu1822=) c.5258T= (p.Leu1753=) c.1961T= (p.Leu654=) n.1282T= c.5462T= (p.Leu1821=) c.1786T= c.1973T= (p.Leu658=) c.*5182T= (n.*5182T=) c.2021-1425T= (n.2021-1425T=) c.329T= (p.Leu110=) c.872T= (p.Leu291=) c.98T= (p.Leu33=) n.5535T= n.5576T= | |
17 | g.43049128A>C | CA10590676 | BRCA1 | c.5396T>G (p.Leu1799Arg) c.5399T>G (p.Leu1800Arg) c.5273T>G (p.Leu1758Arg) c.5393T>G (p.Leu1798Arg) c.5321T>G (p.Leu1774Arg) c.2087T>G (p.Leu696Arg) c.1949T>G (p.Leu650Arg) c.4511T>G (p.Leu1504Arg) c.5276T>G (p.Leu1759Arg) c.5465T>G (p.Leu1822Arg) c.5258T>G (p.Leu1753Arg) c.1961T>G (p.Leu654Arg) n.1282T>G c.5462T>G (p.Leu1821Arg) c.1786T>G c.1973T>G (p.Leu658Arg) c.*5182T>G (n.*5182T>G) c.2021-1425T>G (n.2021-1425T>G) c.329T>G (p.Leu110Arg) c.872T>G (p.Leu291Arg) c.98T>G (p.Leu33Arg) n.5535T>G n.5576T>G | ClinVar dbSNP |
17 | g.43049128A>G | CA10590677 | BRCA1 | c.5396T>C (p.Leu1799Pro) c.5399T>C (p.Leu1800Pro) c.5273T>C (p.Leu1758Pro) c.5393T>C (p.Leu1798Pro) c.5321T>C (p.Leu1774Pro) c.2087T>C (p.Leu696Pro) c.1949T>C (p.Leu650Pro) c.4511T>C (p.Leu1504Pro) c.5276T>C (p.Leu1759Pro) c.5465T>C (p.Leu1822Pro) c.5258T>C (p.Leu1753Pro) c.1961T>C (p.Leu654Pro) n.1282T>C c.5462T>C (p.Leu1821Pro) c.1786T>C c.1973T>C (p.Leu658Pro) c.*5182T>C (n.*5182T>C) c.2021-1425T>C (n.2021-1425T>C) c.329T>C (p.Leu110Pro) c.872T>C (p.Leu291Pro) c.98T>C (p.Leu33Pro) n.5535T>C n.5576T>C | ClinVar dbSNP |
17 | g.43049128A>T | CA10590678 | BRCA1 | c.5396T>A (p.Leu1799His) c.5399T>A (p.Leu1800His) c.5273T>A (p.Leu1758His) c.5393T>A (p.Leu1798His) c.5321T>A (p.Leu1774His) c.2087T>A (p.Leu696His) c.1949T>A (p.Leu650His) c.4511T>A (p.Leu1504His) c.5276T>A (p.Leu1759His) c.5465T>A (p.Leu1822His) c.5258T>A (p.Leu1753His) c.1961T>A (p.Leu654His) n.1282T>A c.5462T>A (p.Leu1821His) c.1786T>A c.1973T>A (p.Leu658His) c.*5182T>A (n.*5182T>A) c.2021-1425T>A (n.2021-1425T>A) c.329T>A (p.Leu110His) c.872T>A (p.Leu291His) c.98T>A (p.Leu33His) n.5535T>A n.5576T>A | ClinVar dbSNP |
17 | g.43049128_43049129delinsAG | CA2260762716 | BRCA1 | c.5395_5396delinsCT (p.Leu1799=) c.5398_5399delinsCT (p.Leu1800=) c.5272_5273delinsCT (p.Leu1758=) c.5392_5393delinsCT (p.Leu1798=) c.5320_5321delinsCT (p.Leu1774=) c.2086_2087delinsCT (p.Leu696=) c.1948_1949delinsCT (p.Leu650=) c.4510_4511delinsCT (p.Leu1504=) c.5275_5276delinsCT (p.Leu1759=) c.5464_5465delinsCT (p.Leu1822=) c.5257_5258delinsCT (p.Leu1753=) c.1960_1961delinsCT (p.Leu654=) n.1281_1282delinsCT c.5461_5462delinsCT (p.Leu1821=) c.1785_1786delinsCT c.1972_1973delinsCT (p.Leu658=) c.*5181_*5182delinsCT (n.*5181_*5182delinsCT) c.2021-1426_2021-1425delinsCT (n.2021-1426_2021-1425delinsCT) c.328_329delinsCT (p.Leu110=) c.871_872delinsCT (p.Leu291=) c.97_98delinsCT (p.Leu33=) n.5534_5535delinsCT n.5575_5576delinsCT | |
17 | g.43049129G>A | CA10590679 | BRCA1 | c.5395C>T (p.Leu1799Phe) c.5398C>T (p.Leu1800Phe) c.5272C>T (p.Leu1758Phe) c.5392C>T (p.Leu1798Phe) c.5320C>T (p.Leu1774Phe) c.2086C>T (p.Leu696Phe) c.1948C>T (p.Leu650Phe) c.4510C>T (p.Leu1504Phe) c.5275C>T (p.Leu1759Phe) c.5464C>T (p.Leu1822Phe) c.5257C>T (p.Leu1753Phe) c.1960C>T (p.Leu654Phe) n.1281C>T c.5461C>T (p.Leu1821Phe) c.1785C>T c.1972C>T (p.Leu658Phe) c.*5181C>T (n.*5181C>T) c.2021-1426C>T (n.2021-1426C>T) c.328C>T (p.Leu110Phe) c.871C>T (p.Leu291Phe) c.97C>T (p.Leu33Phe) n.5534C>T n.5575C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43049129G>C | CA10590680 | BRCA1 | c.5395C>G (p.Leu1799Val) c.5398C>G (p.Leu1800Val) c.5272C>G (p.Leu1758Val) c.5392C>G (p.Leu1798Val) c.5320C>G (p.Leu1774Val) c.2086C>G (p.Leu696Val) c.1948C>G (p.Leu650Val) c.4510C>G (p.Leu1504Val) c.5275C>G (p.Leu1759Val) c.5464C>G (p.Leu1822Val) c.5257C>G (p.Leu1753Val) c.1960C>G (p.Leu654Val) n.1281C>G c.5461C>G (p.Leu1821Val) c.1785C>G c.1972C>G (p.Leu658Val) c.*5181C>G (n.*5181C>G) c.2021-1426C>G (n.2021-1426C>G) c.328C>G (p.Leu110Val) c.871C>G (p.Leu291Val) c.97C>G (p.Leu33Val) n.5534C>G n.5575C>G | ClinVar dbSNP |
17 | g.43049129G= | CA2260762718 | BRCA1 | c.5395C= (p.Leu1799=) c.5398C= (p.Leu1800=) c.5272C= (p.Leu1758=) c.5392C= (p.Leu1798=) c.5320C= (p.Leu1774=) c.2086C= (p.Leu696=) c.1948C= (p.Leu650=) c.4510C= (p.Leu1504=) c.5275C= (p.Leu1759=) c.5464C= (p.Leu1822=) c.5257C= (p.Leu1753=) c.1960C= (p.Leu654=) n.1281C= c.5461C= (p.Leu1821=) c.1785C= c.1972C= (p.Leu658=) c.*5181C= (n.*5181C=) c.2021-1426C= (n.2021-1426C=) c.328C= (p.Leu110=) c.871C= (p.Leu291=) c.97C= (p.Leu33=) n.5534C= n.5575C= | |
17 | g.43049129G>T | CA10590681 | BRCA1 | c.5395C>A (p.Leu1799Ile) c.5398C>A (p.Leu1800Ile) c.5272C>A (p.Leu1758Ile) c.5392C>A (p.Leu1798Ile) c.5320C>A (p.Leu1774Ile) c.2086C>A (p.Leu696Ile) c.1948C>A (p.Leu650Ile) c.4510C>A (p.Leu1504Ile) c.5275C>A (p.Leu1759Ile) c.5464C>A (p.Leu1822Ile) c.5257C>A (p.Leu1753Ile) c.1960C>A (p.Leu654Ile) n.1281C>A c.5461C>A (p.Leu1821Ile) c.1785C>A c.1972C>A (p.Leu658Ile) c.*5181C>A (n.*5181C>A) c.2021-1426C>A (n.2021-1426C>A) c.328C>A (p.Leu110Ile) c.871C>A (p.Leu291Ile) c.97C>A (p.Leu33Ile) n.5534C>A n.5575C>A | ClinVar dbSNP |
17 | g.43049131del | CA16620419 | BRCA1 | c.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 |
17 | g.43049129_43049157delinsGGGTGAATGATGAAAGCTCCTTCACCACA | CA2260762717 | BRCA1 | c.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 | |
17 | g.43049130G>A | CA500143280 | BRCA1 | c.5394C>T (p.Thr1798=) c.5397C>T (p.Thr1799=) c.5271C>T (p.Thr1757=) c.5391C>T (p.Thr1797=) c.5319C>T (p.Thr1773=) c.2085C>T (p.Thr695=) c.1947C>T (p.Thr649=) c.4509C>T (p.Thr1503=) c.5274C>T (p.Thr1758=) c.5463C>T (p.Thr1821=) c.5256C>T (p.Thr1752=) c.1959C>T (p.Thr653=) n.1280C>T c.5460C>T (p.Thr1820=) c.1784C>T c.1971C>T (p.Thr657=) c.*5180C>T (n.*5180C>T) c.2021-1427C>T (n.2021-1427C>T) c.327C>T (p.Thr109=) c.870C>T (p.Thr290=) c.96C>T (p.Thr32=) n.5533C>T n.5574C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43049130G>C | CA500143281 | BRCA1 | c.5394C>G (p.Thr1798=) c.5397C>G (p.Thr1799=) c.5271C>G (p.Thr1757=) c.5391C>G (p.Thr1797=) c.5319C>G (p.Thr1773=) c.2085C>G (p.Thr695=) c.1947C>G (p.Thr649=) c.4509C>G (p.Thr1503=) c.5274C>G (p.Thr1758=) c.5463C>G (p.Thr1821=) c.5256C>G (p.Thr1752=) c.1959C>G (p.Thr653=) n.1280C>G c.5460C>G (p.Thr1820=) c.1784C>G c.1971C>G (p.Thr657=) c.*5180C>G (n.*5180C>G) c.2021-1427C>G (n.2021-1427C>G) c.327C>G (p.Thr109=) c.870C>G (p.Thr290=) c.96C>G (p.Thr32=) n.5533C>G n.5574C>G | ClinVar dbSNP |
17 | g.43049130G= | CA2260762719 | BRCA1 | c.5394C= (p.Thr1798=) c.5397C= (p.Thr1799=) c.5271C= (p.Thr1757=) c.5391C= (p.Thr1797=) c.5319C= (p.Thr1773=) c.2085C= (p.Thr695=) c.1947C= (p.Thr649=) c.4509C= (p.Thr1503=) c.5274C= (p.Thr1758=) c.5463C= (p.Thr1821=) c.5256C= (p.Thr1752=) c.1959C= (p.Thr653=) n.1280C= c.5460C= (p.Thr1820=) c.1784C= c.1971C= (p.Thr657=) c.*5180C= (n.*5180C=) c.2021-1427C= (n.2021-1427C=) c.327C= (p.Thr109=) c.870C= (p.Thr290=) c.96C= (p.Thr32=) n.5533C= n.5574C= | |
17 | g.43049130G>T | CA500143282 | BRCA1 | c.5394C>A (p.Thr1798=) c.5397C>A (p.Thr1799=) c.5271C>A (p.Thr1757=) c.5391C>A (p.Thr1797=) c.5319C>A (p.Thr1773=) c.2085C>A (p.Thr695=) c.1947C>A (p.Thr649=) c.4509C>A (p.Thr1503=) c.5274C>A (p.Thr1758=) c.5463C>A (p.Thr1821=) c.5256C>A (p.Thr1752=) c.1959C>A (p.Thr653=) n.1280C>A c.5460C>A (p.Thr1820=) c.1784C>A c.1971C>A (p.Thr657=) c.*5180C>A (n.*5180C>A) c.2021-1427C>A (n.2021-1427C>A) c.327C>A (p.Thr109=) c.870C>A (p.Thr290=) c.96C>A (p.Thr32=) n.5533C>A n.5574C>A | ClinVar dbSNP |
17 | g.43049131_43049158del | CA003538 | BRCA1 | c.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 |
17 | g.43049131G>A | CA003548 | BRCA1 | c.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 |
17 | g.43049131G>C | CA10590682 | BRCA1 | c.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 |
17 | g.43049131G= | CA2260762720 | BRCA1 | c.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= | |
17 | g.43049131G>T | CA10590683 | BRCA1 | c.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 |
17 | g.43049132T>A | CA10590684 | BRCA1 | c.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 |
17 | g.43049132T>C | CA10590685 | BRCA1 | c.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 |
17 | g.43049132T>G | CA10590686 | BRCA1 | c.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 |
17 | g.43049132T= | CA2260762721 | BRCA1 | c.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= | |
17 | g.43049133G>A | CA054819 | BRCA1 | c.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 |
17 | g.43049133G>C | CA10590687 | BRCA1 | c.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 |
17 | g.43049133G= | CA2260762722 | BRCA1 | c.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= | |
17 | g.43049133G>T | CA10590688 | BRCA1 | c.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 |
17 | g.43049134A= | CA2260762723 | BRCA1 | c.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= | |
17 | g.43049134A>C | CA10590689 | BRCA1 | c.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 |
17 | g.43049134A>G | CA10590690 | BRCA1 | c.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 |
17 | g.43049134A>T | CA10590691 | BRCA1 | c.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 |
17 | g.43049135A= | CA2260762724 | BRCA1 | c.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= | |
17 | g.43049135A>C | CA10590692 | BRCA1 | c.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 |
17 | g.43049135A>G | CA10590693 | BRCA1 | c.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 |
17 | g.43049135A>T | CA10590694 | BRCA1 | c.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 |
17 | g.43049135_43049136delinsAT | CA2260762725 | BRCA1 | c.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 | |
17 | g.43049136del | CA054811 | BRCA1 | c.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 |
17 | g.43049136T>A | CA500143283 | BRCA1 | c.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 |
17 | g.43049136T>C | CA500143284 | BRCA1 | c.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 |
17 | g.43049136T>G | CA500143285 | BRCA1 | c.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 |
17 | g.43049136T= | CA2260762726 | BRCA1 | c.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= | |
17 | g.43049137G>A | CA10586114 | BRCA1 | c.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 |
17 | g.43049137G>C | CA10589592 | BRCA1 | c.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 |
17 | g.43049137G= | CA2260762727 | BRCA1 | c.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= | |
17 | g.43049137G>T | CA10590695 | BRCA1 | c.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 |
17 | g.43049138A= | CA2260762728 | BRCA1 | c.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= | |
17 | g.43049138A>C | CA10590696 | BRCA1 | c.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 |
17 | g.43049138A>G | CA10590697 | BRCA1 | c.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 |
17 | g.43049138A>T | CA10590698 | BRCA1 | c.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 |
17 | g.43049138dup | CA10589593 | BRCA1 | c.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 |
17 | g.43049139T>A | CA500143286 | BRCA1 | c.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 |
17 | g.43049139T>C | CA003547 | BRCA1 | c.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 |
17 | g.43049139T>G | CA500143287 | BRCA1 | c.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 |
17 | g.43049139T= | CA2260762729 | BRCA1 | c.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= | |
17 | g.43049139_43049392delinsTGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGATCTAAAATGGACATTTAGATGTAAAATCACTGCAGTAATCTGCATACTTAACCCAGGCCCTCTACCCTACACTCTCCGGATGAAGGCTTATAGCAAGACCTCTCAATGGGAGAGTCTGTCTCTCTGCTCCAAAGGACAATGGTCTTAAAATAGTAGGGGTATGGATTTTAAGTCAATTTGCCACTGATATGCCATGTAC | CA2260762730 | BRCA1 | c.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 | |
17 | g.43049140G>A | CA10590699 | BRCA1 | c.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 |
17 | g.43049140G>C | CA10590700 | BRCA1 | c.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 |
17 | g.43049140G= | CA2260762731 | BRCA1 | c.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= | |
17 | g.43049140G>T | CA003546 | BRCA1 | c.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 |
17 | g.43049140dup | CA2695226110 | BRCA1 | c.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 | |
17 | g.43049140_43049141delinsGA | CA2260762732 | BRCA1 | c.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 | |
17 | g.43049140_43049392del | CA10602572 | BRCA1 | c.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 |
17 | g.43049141A= | CA2260762734 | BRCA1 | c.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= | |
17 | g.43049141A>C | CA10590701 | BRCA1 | c.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 |
17 | g.43049141A>G | CA10590702 | BRCA1 | c.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 |
17 | g.43049141A>T | CA10590703 | BRCA1 | c.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 |
17 | g.43049143dup | CA268393 | BRCA1 | c.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 |
17 | g.43049143del | CA003545 | BRCA1 | c.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 |
17 | g.43049141_43049158delinsAAAGCTCCTTCACCACAG | CA2260762733 | BRCA1 | c.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 | |
17 | g.43049141_43049142insG | CA645577429 | BRCA1 | c.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 |
17 | g.43049142A= | CA2260762735 | BRCA1 | c.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= | |
17 | g.43049142A>C | CA500143288 | BRCA1 | c.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 |
17 | g.43049142A>G | CA500143290 | BRCA1 | c.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 |
17 | g.43049142A>T | CA500143289 | BRCA1 | c.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 |
17 | g.43049146_43049162del | CA003534 | BRCA1 | c.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 |
17 | g.43049143A= | CA2260762736 | BRCA1 | c.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= | |
17 | g.43049143A>C | CA10590704 | BRCA1 | c.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 |
17 | g.43049143A>G | CA10590705 | BRCA1 | c.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 |
17 | g.43049143A>T | CA10590706 | BRCA1 | c.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 |
17 | g.43049144G>A | CA10583547 | BRCA1 | c.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 |
17 | g.43049144G>C | CA10590707 | BRCA1 | c.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 |
17 | g.43049144G= | CA2260762737 | BRCA1 | c.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= | |
17 | g.43049144G>T | CA10590708 | BRCA1 | c.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 |
17 | g.43049144_43049145insT | CA500143291 | BRCA1 | c.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 | |
17 | g.43049145C>A | CA003543 | BRCA1 | c.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 |
17 | g.43049145C= | CA2260762738 | BRCA1 | c.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= | |
17 | g.43049145C>G | CA054799 | BRCA1 | c.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 |
17 | g.43049145C>T | CA500143292 | BRCA1 | c.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 |
17 | g.43049146T>A | CA10590709 | BRCA1 | c.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 |
17 | g.43049146T>C | CA10590710 | BRCA1 | c.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 |
17 | g.43049146T>G | CA10590711 | BRCA1 | c.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 |
17 | g.43049146T= | CA2260762739 | BRCA1 | c.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= | |
17 | g.43049147C>A | CA10590712 | BRCA1 | c.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 |
17 | g.43049147C= | CA2260762740 | BRCA1 | c.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= | |
17 | g.43049147C>G | CA10590713 | BRCA1 | c.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 |
17 | g.43049147C>T | CA054791 | BRCA1 | c.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 |
17 | g.43049148C>A | CA10590714 | BRCA1 | c.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 |
17 | g.43049148C= | CA2260762741 | BRCA1 | c.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= | |
17 | g.43049148C>G | CA10590715 | BRCA1 | c.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 |
17 | g.43049148C>T | CA500143293 | BRCA1 | c.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 |
17 | g.43049149T>A | CA10590716 | BRCA1 | c.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 |
17 | g.43049149T>C | CA10590717 | BRCA1 | c.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 |
17 | g.43049149T>G | CA003541 | BRCA1 | c.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 |
17 | g.43049149T= | CA2260762742 | BRCA1 | c.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= | |
17 | g.43049150T>A | CA003540 | BRCA1 | c.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 |
17 | g.43049150T>C | CA10590718 | BRCA1 | c.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 |
17 | g.43049150T>G | CA10590719 | BRCA1 | c.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 |
17 | g.43049150T= | CA2260762743 | BRCA1 | c.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= | |
17 | g.43049151C>A | CA500143295 | BRCA1 | c.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 |
17 | g.43049151C= | CA2260762744 | BRCA1 | c.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= | |
17 | g.43049151C>G | CA500143294 | BRCA1 | c.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 |
17 | g.43049151C>T | CA16615642 | BRCA1 | c.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 |
17 | g.43049152A= | CA2260762745 | BRCA1 | c.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= | |
17 | g.43049152A>C | CA10590720 | BRCA1 | c.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 |
17 | g.43049152A>G | CA10590721 | BRCA1 | c.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 |
17 | g.43049152A>T | CA10590722 | BRCA1 | c.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 |
17 | g.43049153C>A | CA10590723 | BRCA1 | c.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 |
17 | g.43049153C= | CA2260762746 | BRCA1 | c.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= | |
17 | g.43049153C>G | CA10590724 | BRCA1 | c.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 |
17 | g.43049153C>T | CA10590725 | BRCA1 | c.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 |
17 | g.43049154del | CA2733924826 | BRCA1 | c.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 |
17 | g.43049154C>A | CA500143296 | BRCA1 | c.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 |
17 | g.43049154C= | CA2260762747 | BRCA1 | c.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= | |
17 | g.43049154C>G | CA500143297 | BRCA1 | c.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 |
17 | g.43049154C>T | CA500143298 | BRCA1 | c.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 |
17 | g.43049155A= | CA2260762748 | BRCA1 | c.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= | |
17 | g.43049155A>C | CA10590726 | BRCA1 | c.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 |
17 | g.43049155A>G | CA350379 | BRCA1 | c.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 |
17 | g.43049155A>T | CA10590727 | BRCA1 | c.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 |
17 | g.43049156C>A | CA003539 | BRCA1 | c.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 |
17 | g.43049156C= | CA2260762749 | BRCA1 | c.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= | |
17 | g.43049156C>G | CA10590728 | BRCA1 | c.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 |
17 | g.43049156C>T | CA10580484 | BRCA1 | c.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 |
17 | g.43049157A= | CA2260762750 | BRCA1 | c.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= | |
17 | g.43049157A>C | CA500143299 | BRCA1 | c.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 |
17 | g.43049157A>G | CA500143300 | BRCA1 | c.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 |
17 | g.43049157A>T | CA500143301 | BRCA1 | c.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 |
17 | g.43049158G>A | CA10590729 | BRCA1 | c.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 |
17 | g.43049158G>C | CA10590730 | BRCA1 | c.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 |
17 | g.43049158G= | CA2260762752 | BRCA1 | c.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= | |
17 | g.43049158G>T | CA10590731 | BRCA1 | c.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 |
17 | g.43049158_43049159delinsGA | CA2260762751 | BRCA1 | c.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 | |
17 | g.43049159A= | CA2260762753 | BRCA1 | c.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= | |
17 | g.43049159A>C | CA10590732 | BRCA1 | c.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 |
17 | g.43049159A>G | CA10590733 | BRCA1 | c.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 |
17 | g.43049159A>T | CA10590734 | BRCA1 | c.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 |
17 | g.43049160del | CA10584545 | BRCA1 | c.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 |
17 | g.43049160A= | CA2260762754 | BRCA1 | c.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= | |
17 | g.43049160A>C | CA500143302 | BRCA1 | c.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 |
17 | g.43049160A>G | CA500143303 | BRCA1 | c.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 |
17 | g.43049160A>T | CA500143304 | BRCA1 | c.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 |
17 | g.43049160_43049161delinsAG | CA2260762756 | BRCA1 | c.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 | |
17 | g.43049160_43049162delinsAGC | CA2260762755 | BRCA1 | c.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 | |
17 | g.43049161del | CA054762 | BRCA1 | c.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 |
17 | g.43049161G>A | CA10590735 | BRCA1 | c.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 |
17 | g.43049161G>C | CA10590736 | BRCA1 | c.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 |
17 | g.43049161G= | CA2260762757 | BRCA1 | c.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= | |
17 | g.43049161G>T | CA10590737 | BRCA1 | c.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 |
17 | g.43049161_43049162delinsT | CA658656643 | BRCA1 | c.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 |
17 | g.43049162C>A | CA003533 | BRCA1 | c.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 |
17 | g.43049162C= | CA2260762758 | BRCA1 | c.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= | |
17 | g.43049162C>G | CA10590738 | BRCA1 | c.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 |
17 | g.43049162C>T | CA003531 | BRCA1 | c.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 |
17 | g.43049163A= | CA2260762759 | BRCA1 | c.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= | |
17 | g.43049163A>C | CA500143305 | BRCA1 | c.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 |
17 | g.43049163A>G | CA500143306 | BRCA1 | c.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 |
17 | g.43049163A>T | CA500143307 | BRCA1 | c.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 |
17 | g.43049164C>A | CA003530 | BRCA1 | c.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 |
17 | g.43049164C= | CA2260762760 | BRCA1 | c.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= | |
17 | g.43049164C>G | CA10590739 | BRCA1 | c.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 |
17 | g.43049164C>T | CA003529 | BRCA1 | c.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 |
17 | g.[43049164C>T;43049168A>T] | CA916079409 | BRCA1 | c.[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] | |
17 | g.43049164_43049166delinsCCA | CA2260762762 | BRCA1 | c.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 | |
17 | g.43049164_43049168delinsCCACA | CA2260762761 | BRCA1 | c.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 | |
17 | g.43049164_43049168delinsTCACT | CA003524 | BRCA1 | c.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 |
17 | g.43049165C>A | CA003528 | BRCA1 | c.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 |
17 | g.43049165C= | CA2260762763 | BRCA1 | c.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= | |
17 | g.43049165C>G | CA10590740 | BRCA1 | c.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 |
17 | g.43049165C>T | CA10590741 | BRCA1 | c.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 |
17 | g.43049169_43049170del | CA10589594 | BRCA1 | c.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 |
17 | g.43049166A= | CA2260762764 | BRCA1 | c.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= | |
17 | g.43049166A>C | CA10590742 | BRCA1 | c.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 |
17 | g.43049166A>G | CA500143308 | BRCA1 | c.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 |
17 | g.43049166A>T | CA10590743 | BRCA1 | c.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 |
17 | g.43049166_43049167delinsAC | CA2260762765 | BRCA1 | c.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 | |
17 | g.43049166_43049167delinsCT | CA003527 | BRCA1 | c.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 |
17 | g.43049167del | CA2695226111 | BRCA1 | c.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 | |
17 | g.43049167C>A | CA10590744 | BRCA1 | c.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 |
17 | g.43049167C= | CA2260762766 | BRCA1 | c.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= | |
17 | g.43049167C>G | CA10590745 | BRCA1 | c.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 |
17 | g.43049167C>T | CA10590746 | BRCA1 | c.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 |
17 | g.43049167_43049168delinsTCACT | CA003523 | BRCA1 | c.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 | |
17 | g.43049168A= | CA2260762767 | BRCA1 | c.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= | |
17 | g.43049168A>C | CA10590747 | BRCA1 | c.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 |
17 | g.43049168A>G | CA10590748 | BRCA1 | c.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 |
17 | g.43049168A>T | CA003525 | BRCA1 | c.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 |
17 | g.43049169C>A | CA500143309 | BRCA1 | c.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 |
17 | g.43049169C= | CA2260762768 | BRCA1 | c.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= | |
17 | g.43049169C>G | CA16608432 | BRCA1 | c.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 |
17 | g.43049169C>T | CA500143310 | BRCA1 | c.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 |
17 | g.43049170A= | CA2260762769 | BRCA1 | c.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= | |
17 | g.43049170A>C | CA10590749 | BRCA1 | c.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 |
17 | g.43049170A>G | CA003521 | BRCA1 | c.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 |
17 | g.43049170A>T | CA10590750 | BRCA1 | c.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 |
17 | g.43049171G>A | CA500143311 | BRCA1 | c.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 |
17 | g.43049171G>C | CA10590751 | BRCA1 | c.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 |
17 | g.43049171G= | CA2260762770 | BRCA1 | c.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= | |
17 | g.43049171G>T | CA10590752 | BRCA1 | c.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 |
17 | g.43049172C>A | CA003520 | BRCA1 | c.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 |
17 | g.43049172C= | CA2260762771 | BRCA1 | c.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= | |
17 | g.43049172C>G | CA10590753 | BRCA1 | c.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 |
17 | g.43049172C>T | CA500143312 | BRCA1 | c.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 |
17 | g.43049172_43049173delinsGG | CA2580093957 | BRCA1 | c.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 |
17 | g.43049173T>A | CA10590754 | BRCA1 | c.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 |
17 | g.43049173T>C | CA10590755 | BRCA1 | c.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 |
17 | g.43049173T>G | CA10580485 | BRCA1 | c.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 |
17 | g.43049173T= | CA2260762772 | BRCA1 | c.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= | |
17 | g.43049174_43049175dup | CA10589595 | BRCA1 | c.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 |
17 | g.43049174G>A | CA003519 | BRCA1 | c.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 |
17 | g.43049174G>C | CA10590756 | BRCA1 | c.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 |
17 | g.43049174G= | CA2260762773 | BRCA1 | c.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= | |
17 | g.43049174G>T | CA10590757 | BRCA1 | c.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 |
17 | g.43049175del | CA2638060697 | BRCA1 | c.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 |
17 | g.43049175T>A | CA500143313 | BRCA1 | c.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 |
17 | g.43049175T>C | CA054693 | BRCA1 | c.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 |
17 | g.43049175T>G | CA500143314 | BRCA1 | c.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 |
17 | g.43049175T= | CA2260762774 | BRCA1 | c.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= | |
17 | g.43049175dup | CA003518 | BRCA1 | c.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 |
17 | g.43049176A= | CA2260762775 | BRCA1 | c.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= | |
17 | g.43049176A>C | CA10590758 | BRCA1 | c.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 |
17 | g.43049176A>G | CA10590759 | BRCA1 | c.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 |
17 | g.43049176A>T | CA10590760 | BRCA1 | c.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 |
17 | g.43049176_43049177delinsAC | CA2260762776 | BRCA1 | c.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 | |
17 | g.43049177C>A | CA10590761 | BRCA1 | c.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 |
17 | g.43049177C= | CA2260762777 | BRCA1 | c.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= | |
17 | g.43049177C>G | CA10590762 | BRCA1 | c.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 |
17 | g.43049177C>T | CA10590763 | BRCA1 | c.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 |
17 | g.43049178del | CA1139665552 | BRCA1 | c.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 |
17 | g.43049178C>A | CA10590764 | BRCA1 | c.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 |
17 | g.43049178C= | CA2260762778 | BRCA1 | c.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= | |
17 | g.43049178C>G | CA10590765 | BRCA1 | c.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 |
17 | g.43049178C>T | CA003517 | BRCA1 | c.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 |
17 | g.43049178_43049179delinsCA | CA2260762779 | BRCA1 | c.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 | |
17 | g.43049179del | CA10589596 | BRCA1 | c.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 |
17 | g.43049179A= | CA2260762780 | BRCA1 | c.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= | |
17 | g.43049179A>C | CA10590766 | BRCA1 | c.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 |
17 | g.43049179A>G | CA003516 | BRCA1 | c.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 |
17 | g.43049179A>T | CA10590767 | BRCA1 | c.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 |
17 | g.43049180del | CA2695226112 | BRCA1 | c.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 | |
17 | g.43049180T>A | CA10590768 | BRCA1 | c.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 |
17 | g.43049180T>C | CA10590769 | BRCA1 | c.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 |
17 | g.43049180T>G | CA003515 | BRCA1 | c.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 |
17 | g.43049180T= | CA2260762781 | BRCA1 | c.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= | |
17 | g.43049181C>A | CA10590770 | BRCA1 | c.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 |
17 | g.43049181C= | CA2260762782 | BRCA1 | c.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= | |
17 | g.43049181C>G | CA10590771 | BRCA1 | c.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 |
17 | g.43049181C>T | CA003514 | BRCA1 | c.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 |
17 | g.43049182C>A | CA10590772 | BRCA1 | c.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 |
17 | g.43049182C= | CA2260762783 | BRCA1 | c.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= | |
17 | g.43049182C>G | CA10590773 | BRCA1 | c.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 |
17 | g.43049182C>T | CA003512 | BRCA1 | c.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 |
17 | g.43049183A= | CA2260762785 | BRCA1 | c.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= | |
17 | g.43049183A>C | CA10590774 | BRCA1 | c.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 |
17 | g.43049183A>G | CA10590775 | BRCA1 | c.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 |
17 | g.43049183A>T | CA10590776 | BRCA1 | c.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 |
17 | g.43049183_43049186delinsATTC | CA2260762784 | BRCA1 | c.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 | |
17 | g.43049184T>A | CA10590777 | BRCA1 | c.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 |
17 | g.43049184T>C | CA500143315 | BRCA1 | c.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 |
17 | g.43049184T>G | CA10590778 | BRCA1 | c.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 |
17 | g.43049184T= | CA2260762786 | BRCA1 | c.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= | |
17 | g.43049184_43049186delinsCA | CA10589597 | BRCA1 | c.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 |
17 | g.43049185T>A | CA10590779 | BRCA1 | c.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 |
17 | g.43049185T>C | CA10590780 | BRCA1 | c.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 | |
17 | g.43049185T>G | CA10590781 | BRCA1 | c.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 |
17 | g.43049185T= | CA2260762788 | BRCA1 | c.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= | |
17 | g.43049185_43049186delinsTC | CA2260762787 | BRCA1 | c.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 | |
17 | g.43049186C>A | CA003511 | BRCA1 | c.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 |
17 | g.43049186C= | CA2260762789 | BRCA1 | c.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= | |
17 | g.43049186C>G | CA10590782 | BRCA1 | c.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 |
17 | g.43049186C>T | CA10590783 | BRCA1 | c.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 |
17 | g.43049187del | CA003510 | BRCA1 | c.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 |
17 | g.43049187C>A | CA500143316 | BRCA1 | c.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 |
17 | g.43049187C= | CA2260762790 | BRCA1 | c.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= | |
17 | g.43049187C>G | CA500143317 | BRCA1 | c.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 |
17 | g.43049187C>T | CA054637 | BRCA1 | c.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 |
17 | g.43049188A= | CA2260762791 | BRCA1 | c.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= | |
17 | g.43049188A>C | CA003509 | BRCA1 | c.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 |
17 | g.43049188A>G | CA003508 | BRCA1 | c.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 |
17 | g.43049188A>T | CA10590784 | BRCA1 | c.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 |
17 | g.43049188_43049189delinsAG | CA2260762792 | BRCA1 | c.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 |