| 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.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.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.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.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.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.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] | ClinVar |
| 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 | 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 |