| 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.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.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.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.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.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.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= |