UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.43049106_43049125delinsGCACCCAATACTTACTGTGC | CA2260762689 | BRCA1 | c.5399_5403+15delinsGCACAGTAAGTATTGGGTGC c.5402_5406+15delinsGCACAGTAAGTATTGGGTGC c.5276_5280+15delinsGCACAGTAAGTATTGGGTGC c.5396_5400+15delinsGCACAGTAAGTATTGGGTGC c.5324_5328+15delinsGCACAGTAAGTATTGGGTGC c.2090_2094+15delinsGCACAGTAAGTATTGGGTGC c.1952_1956+15delinsGCACAGTAAGTATTGGGTGC c.4514_4518+15delinsGCACAGTAAGTATTGGGTGC c.5279_5283+15delinsGCACAGTAAGTATTGGGTGC c.5468_5472+15delinsGCACAGTAAGTATTGGGTGC c.5261_5265+15delinsGCACAGTAAGTATTGGGTGC c.1964_1968+15delinsGCACAGTAAGTATTGGGTGC n.1285_1289+15delinsGCACAGTAAGTATTGGGTGC c.5465_5469+15delinsGCACAGTAAGTATTGGGTGC c.1789_1793+15delinsGCACAGTAAGTATTGGGTGC c.1976_1980+15delinsGCACAGTAAGTATTGGGTGC c.*5185_*5189+15delinsGCACAGTAAGTATTGGGTGC c.2021-1422_2021-1403delinsGCACAGTAAGTATTGGGTGC (n.2021-1422_2021-1403delinsGCACAGTAAGTATTGGGTGC) c.332_336+15delinsGCACAGTAAGTATTGGGTGC c.875_879+15delinsGCACAGTAAGTATTGGGTGC c.101_105+15delinsGCACAGTAAGTATTGGGTGC n.5538_5542+15delinsGCACAGTAAGTATTGGGTGC n.5579_5583+15delinsGCACAGTAAGTATTGGGTGC | |
| 17 | g.43049109_43049127del | CA913187709 | BRCA1 | c.5399_5403+14del c.5402_5406+14del c.5276_5280+14del c.5396_5400+14del c.5324_5328+14del c.2090_2094+14del c.1952_1956+14del c.4514_4518+14del c.5279_5283+14del c.5468_5472+14del c.5261_5265+14del c.1964_1968+14del n.1285_1289+14del c.5465_5469+14del c.1789_1793+14del c.1976_1980+14del c.*5185_*5189+14del c.2021-1422_2021-1404del (n.2021-1422_2021-1404del) c.332_336+14del c.875_879+14del c.101_105+14del n.5538_5542+14del n.5579_5583+14del | ClinVar dbSNP |
| 17 | g.43049118_43049121del | CA658798056 | BRCA1 | c.5403+4_5403+7del c.5406+4_5406+7del c.5280+4_5280+7del c.5400+4_5400+7del c.5328+4_5328+7del c.2094+4_2094+7del c.1956+4_1956+7del c.4518+4_4518+7del c.5283+4_5283+7del c.5472+4_5472+7del c.5265+4_5265+7del c.1968+4_1968+7del n.1289+4_1289+7del c.5469+4_5469+7del c.1793+4_1793+7del c.1980+4_1980+7del c.*5189+4_*5189+7del c.2021-1414_2021-1411del (n.2021-1414_2021-1411del) c.336+4_336+7del c.879+4_879+7del c.105+4_105+7del n.5542+4_5542+7del n.5583+4_5583+7del | ClinVar dbSNP |
| 17 | g.43049117_43049120delinsTTAC | CA2260762701 | BRCA1 | c.5403+1_5403+4delinsGTAA (n.5403+1_5403+4delinsGTAA) c.5406+1_5406+4delinsGTAA (n.5406+1_5406+4delinsGTAA) c.5280+1_5280+4delinsGTAA (n.5280+1_5280+4delinsGTAA) c.5400+1_5400+4delinsGTAA (n.5400+1_5400+4delinsGTAA) c.5328+1_5328+4delinsGTAA (n.5328+1_5328+4delinsGTAA) c.2094+1_2094+4delinsGTAA (n.2094+1_2094+4delinsGTAA) c.1956+1_1956+4delinsGTAA (n.1956+1_1956+4delinsGTAA) c.4518+1_4518+4delinsGTAA (n.4518+1_4518+4delinsGTAA) c.5283+1_5283+4delinsGTAA (n.5283+1_5283+4delinsGTAA) c.5472+1_5472+4delinsGTAA (n.5472+1_5472+4delinsGTAA) c.5265+1_5265+4delinsGTAA (n.5265+1_5265+4delinsGTAA) c.1968+1_1968+4delinsGTAA (n.1968+1_1968+4delinsGTAA) n.1289+1_1289+4delinsGTAA c.5469+1_5469+4delinsGTAA (n.5469+1_5469+4delinsGTAA) c.1793+1_1793+4delinsGTAA c.1980+1_1980+4delinsGTAA (n.1980+1_1980+4delinsGTAA) c.*5189+1_*5189+4delinsGTAA (n.*5189+1_*5189+4delinsGTAA) c.2021-1417_2021-1414delinsGTAA (n.2021-1417_2021-1414delinsGTAA) c.336+1_336+4delinsGTAA (n.336+1_336+4delinsGTAA) c.879+1_879+4delinsGTAA (n.879+1_879+4delinsGTAA) c.105+1_105+4delinsGTAA (n.105+1_105+4delinsGTAA) n.5542+1_5542+4delinsGTAA n.5583+1_5583+4delinsGTAA | |
| 17 | g.43049118_43049119delinsTA | CA2260762703 | BRCA1 | c.5403+2_5403+3delinsTA (n.5403+2_5403+3delinsTA) c.5406+2_5406+3delinsTA (n.5406+2_5406+3delinsTA) c.5280+2_5280+3delinsTA (n.5280+2_5280+3delinsTA) c.5400+2_5400+3delinsTA (n.5400+2_5400+3delinsTA) c.5328+2_5328+3delinsTA (n.5328+2_5328+3delinsTA) c.2094+2_2094+3delinsTA (n.2094+2_2094+3delinsTA) c.1956+2_1956+3delinsTA (n.1956+2_1956+3delinsTA) c.4518+2_4518+3delinsTA (n.4518+2_4518+3delinsTA) c.5283+2_5283+3delinsTA (n.5283+2_5283+3delinsTA) c.5472+2_5472+3delinsTA (n.5472+2_5472+3delinsTA) c.5265+2_5265+3delinsTA (n.5265+2_5265+3delinsTA) c.1968+2_1968+3delinsTA (n.1968+2_1968+3delinsTA) n.1289+2_1289+3delinsTA c.5469+2_5469+3delinsTA (n.5469+2_5469+3delinsTA) c.1793+2_1793+3delinsTA c.1980+2_1980+3delinsTA (n.1980+2_1980+3delinsTA) c.*5189+2_*5189+3delinsTA (n.*5189+2_*5189+3delinsTA) c.2021-1416_2021-1415delinsTA (n.2021-1416_2021-1415delinsTA) c.336+2_336+3delinsTA (n.336+2_336+3delinsTA) c.879+2_879+3delinsTA (n.879+2_879+3delinsTA) c.105+2_105+3delinsTA (n.105+2_105+3delinsTA) n.5542+2_5542+3delinsTA n.5583+2_5583+3delinsTA | |
| 17 | g.43049119_43049121del | CA003553 | BRCA1 | c.5403+1_5403+3del c.5406+1_5406+3del c.5280+1_5280+3del c.5400+1_5400+3del c.5328+1_5328+3del c.2094+1_2094+3del c.1956+1_1956+3del c.4518+1_4518+3del c.5283+1_5283+3del c.5472+1_5472+3del c.5265+1_5265+3del c.1968+1_1968+3del n.1289+1_1289+3del c.5469+1_5469+3del c.1793+1_1793+3del c.1980+1_1980+3del c.*5189+1_*5189+3del c.2021-1417_2021-1415del (n.2021-1417_2021-1415del) c.336+1_336+3del c.879+1_879+3del c.105+1_105+3del n.5542+1_5542+3del n.5583+1_5583+3del | ClinVar dbSNP |
| 17 | g.43049119del | CA268394 | BRCA1 | c.5403+2del (n.5403+2del) c.5406+2del (n.5406+2del) c.5280+2del (n.5280+2del) c.5400+2del (n.5400+2del) c.5328+2del (n.5328+2del) c.2094+2del (n.2094+2del) c.1956+2del (n.1956+2del) c.4518+2del (n.4518+2del) c.5283+2del (n.5283+2del) c.5472+2del (n.5472+2del) c.5265+2del (n.5265+2del) c.1968+2del (n.1968+2del) n.1289+2del c.5469+2del (n.5469+2del) c.1793+2del c.1980+2del (n.1980+2del) c.*5189+2del (n.*5189+2del) c.2021-1416del (n.2021-1416del) c.336+2del (n.336+2del) c.879+2del (n.879+2del) c.105+2del (n.105+2del) n.5542+2del n.5583+2del | ClinVar dbSNP |
| 17 | g.43049119A= | CA2260762705 | BRCA1 | c.5403+2T= (n.5403+2T=) c.5406+2T= (n.5406+2T=) c.5280+2T= (n.5280+2T=) c.5400+2T= (n.5400+2T=) c.5328+2T= (n.5328+2T=) c.2094+2T= (n.2094+2T=) c.1956+2T= (n.1956+2T=) c.4518+2T= (n.4518+2T=) c.5283+2T= (n.5283+2T=) c.5472+2T= (n.5472+2T=) c.5265+2T= (n.5265+2T=) c.1968+2T= (n.1968+2T=) n.1289+2T= c.5469+2T= (n.5469+2T=) c.1793+2T= c.1980+2T= (n.1980+2T=) c.*5189+2T= (n.*5189+2T=) c.2021-1416T= (n.2021-1416T=) c.336+2T= (n.336+2T=) c.879+2T= (n.879+2T=) c.105+2T= (n.105+2T=) n.5542+2T= n.5583+2T= | |
| 17 | g.43049119A>C | CA10590661 | BRCA1 | c.5403+2T>G (n.5403+2T>G) c.5406+2T>G (n.5406+2T>G) c.5280+2T>G (n.5280+2T>G) c.5400+2T>G (n.5400+2T>G) c.5328+2T>G (n.5328+2T>G) c.2094+2T>G (n.2094+2T>G) c.1956+2T>G (n.1956+2T>G) c.4518+2T>G (n.4518+2T>G) c.5283+2T>G (n.5283+2T>G) c.5472+2T>G (n.5472+2T>G) c.5265+2T>G (n.5265+2T>G) c.1968+2T>G (n.1968+2T>G) n.1289+2T>G c.5469+2T>G (n.5469+2T>G) c.1793+2T>G c.1980+2T>G (n.1980+2T>G) c.*5189+2T>G (n.*5189+2T>G) c.2021-1416T>G (n.2021-1416T>G) c.336+2T>G (n.336+2T>G) c.879+2T>G (n.879+2T>G) c.105+2T>G (n.105+2T>G) n.5542+2T>G n.5583+2T>G | ClinVar dbSNP |
| 17 | g.43049119A>G | CA10590662 | BRCA1 | c.5403+2T>C (n.5403+2T>C) c.5406+2T>C (n.5406+2T>C) c.5280+2T>C (n.5280+2T>C) c.5400+2T>C (n.5400+2T>C) c.5328+2T>C (n.5328+2T>C) c.2094+2T>C (n.2094+2T>C) c.1956+2T>C (n.1956+2T>C) c.4518+2T>C (n.4518+2T>C) c.5283+2T>C (n.5283+2T>C) c.5472+2T>C (n.5472+2T>C) c.5265+2T>C (n.5265+2T>C) c.1968+2T>C (n.1968+2T>C) n.1289+2T>C c.5469+2T>C (n.5469+2T>C) c.1793+2T>C c.1980+2T>C (n.1980+2T>C) c.*5189+2T>C (n.*5189+2T>C) c.2021-1416T>C (n.2021-1416T>C) c.336+2T>C (n.336+2T>C) c.879+2T>C (n.879+2T>C) c.105+2T>C (n.105+2T>C) n.5542+2T>C n.5583+2T>C | ClinVar dbSNP |
| 17 | g.43049119A>T | CA10590663 | BRCA1 | c.5403+2T>A (n.5403+2T>A) c.5406+2T>A (n.5406+2T>A) c.5280+2T>A (n.5280+2T>A) c.5400+2T>A (n.5400+2T>A) c.5328+2T>A (n.5328+2T>A) c.2094+2T>A (n.2094+2T>A) c.1956+2T>A (n.1956+2T>A) c.4518+2T>A (n.4518+2T>A) c.5283+2T>A (n.5283+2T>A) c.5472+2T>A (n.5472+2T>A) c.5265+2T>A (n.5265+2T>A) c.1968+2T>A (n.1968+2T>A) n.1289+2T>A c.5469+2T>A (n.5469+2T>A) c.1793+2T>A c.1980+2T>A (n.1980+2T>A) c.*5189+2T>A (n.*5189+2T>A) c.2021-1416T>A (n.2021-1416T>A) c.336+2T>A (n.336+2T>A) c.879+2T>A (n.879+2T>A) c.105+2T>A (n.105+2T>A) n.5542+2T>A n.5583+2T>A | ClinVar dbSNP |
| 17 | g.43049121_43049153del | CA2499224354 | BRCA1 | c.5373_5403+2del c.5376_5406+2del c.5250_5280+2del c.5370_5400+2del c.5298_5328+2del c.2064_2094+2del c.1926_1956+2del c.4488_4518+2del c.5253_5283+2del c.5442_5472+2del c.5235_5265+2del c.1938_1968+2del n.1259_1289+2del c.5439_5469+2del c.1763_1793+2del c.1950_1980+2del c.*5159_*5189+2del c.2021-1448_2021-1416del (n.2021-1448_2021-1416del) c.306_336+2del c.849_879+2del c.75_105+2del n.5512_5542+2del n.5553_5583+2del | ClinVar dbSNP |
| 17 | g.43049119_43049195del | CA2499224355 | BRCA1 | c.5330-1_5403+2del c.5333-1_5406+2del c.5207-1_5280+2del c.5327-1_5400+2del c.5255-1_5328+2del c.2021-1_2094+2del c.1883-1_1956+2del c.4445-1_4518+2del c.5210-1_5283+2del c.5399-1_5472+2del c.5192-1_5265+2del c.1895-1_1968+2del n.1215_1289+2del c.5396-1_5469+2del c.1720-1_1793+2del c.1907-1_1980+2del c.*5116-1_*5189+2del c.2021-1492_2021-1416del (n.2021-1492_2021-1416del) c.263-1_336+2del c.806-1_879+2del c.32-1_105+2del n.5469-1_5542+2del n.5510-1_5583+2del | ClinVar dbSNP |
| 17 | g.43049120C>A | CA10590664 | BRCA1 | c.5403+1G>T (n.5403+1G>T) c.5406+1G>T (n.5406+1G>T) c.5280+1G>T (n.5280+1G>T) c.5400+1G>T (n.5400+1G>T) c.5328+1G>T (n.5328+1G>T) c.2094+1G>T (n.2094+1G>T) c.1956+1G>T (n.1956+1G>T) c.4518+1G>T (n.4518+1G>T) c.5283+1G>T (n.5283+1G>T) c.5472+1G>T (n.5472+1G>T) c.5265+1G>T (n.5265+1G>T) c.1968+1G>T (n.1968+1G>T) n.1289+1G>T c.5469+1G>T (n.5469+1G>T) c.1793+1G>T c.1980+1G>T (n.1980+1G>T) c.*5189+1G>T (n.*5189+1G>T) c.2021-1417G>T (n.2021-1417G>T) c.336+1G>T (n.336+1G>T) c.879+1G>T (n.879+1G>T) c.105+1G>T (n.105+1G>T) n.5542+1G>T n.5583+1G>T | ClinVar dbSNP |
| 17 | g.43049120C= | CA2260762706 | BRCA1 | c.5403+1G= (n.5403+1G=) c.5406+1G= (n.5406+1G=) c.5280+1G= (n.5280+1G=) c.5400+1G= (n.5400+1G=) c.5328+1G= (n.5328+1G=) c.2094+1G= (n.2094+1G=) c.1956+1G= (n.1956+1G=) c.4518+1G= (n.4518+1G=) c.5283+1G= (n.5283+1G=) c.5472+1G= (n.5472+1G=) c.5265+1G= (n.5265+1G=) c.1968+1G= (n.1968+1G=) n.1289+1G= c.5469+1G= (n.5469+1G=) c.1793+1G= c.1980+1G= (n.1980+1G=) c.*5189+1G= (n.*5189+1G=) c.2021-1417G= (n.2021-1417G=) c.336+1G= (n.336+1G=) c.879+1G= (n.879+1G=) c.105+1G= (n.105+1G=) n.5542+1G= n.5583+1G= | |
| 17 | g.43049120C>G | CA10590665 | BRCA1 | c.5403+1G>C (n.5403+1G>C) c.5406+1G>C (n.5406+1G>C) c.5280+1G>C (n.5280+1G>C) c.5400+1G>C (n.5400+1G>C) c.5328+1G>C (n.5328+1G>C) c.2094+1G>C (n.2094+1G>C) c.1956+1G>C (n.1956+1G>C) c.4518+1G>C (n.4518+1G>C) c.5283+1G>C (n.5283+1G>C) c.5472+1G>C (n.5472+1G>C) c.5265+1G>C (n.5265+1G>C) c.1968+1G>C (n.1968+1G>C) n.1289+1G>C c.5469+1G>C (n.5469+1G>C) c.1793+1G>C c.1980+1G>C (n.1980+1G>C) c.*5189+1G>C (n.*5189+1G>C) c.2021-1417G>C (n.2021-1417G>C) c.336+1G>C (n.336+1G>C) c.879+1G>C (n.879+1G>C) c.105+1G>C (n.105+1G>C) n.5542+1G>C n.5583+1G>C | ClinVar dbSNP |
| 17 | g.43049120C>T | CA003554 | BRCA1 | c.5403+1G>A (n.5403+1G>A) c.5406+1G>A (n.5406+1G>A) c.5280+1G>A (n.5280+1G>A) c.5400+1G>A (n.5400+1G>A) c.5328+1G>A (n.5328+1G>A) c.2094+1G>A (n.2094+1G>A) c.1956+1G>A (n.1956+1G>A) c.4518+1G>A (n.4518+1G>A) c.5283+1G>A (n.5283+1G>A) c.5472+1G>A (n.5472+1G>A) c.5265+1G>A (n.5265+1G>A) c.1968+1G>A (n.1968+1G>A) n.1289+1G>A c.5469+1G>A (n.5469+1G>A) c.1793+1G>A c.1980+1G>A (n.1980+1G>A) c.*5189+1G>A (n.*5189+1G>A) c.2021-1417G>A (n.2021-1417G>A) c.336+1G>A (n.336+1G>A) c.879+1G>A (n.879+1G>A) c.105+1G>A (n.105+1G>A) n.5542+1G>A n.5583+1G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049120_43049194delinsCTGTGCCAAGGGTGAATGATGAAAGCTCCTTCACCACAGAAGCACCACACAGCTGTACCATCCATTCCAGTTGAT | CA2260762707 | BRCA1 | c.5330_5403+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5333_5406+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5207_5280+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5327_5400+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5255_5328+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.2021_2094+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.1883_1956+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.4445_4518+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5210_5283+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5399_5472+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5192_5265+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.1895_1968+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG n.1216_1289+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.5396_5469+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.1720_1793+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.1907_1980+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.*5116_*5189+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.2021-1491_2021-1417delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG (n.2021-1491_2021-1417delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG) c.263_336+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.806_879+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG c.32_105+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG n.5469_5542+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG n.5510_5583+1delinsATCAACTGGAATGGATGGTACAGCTGTGTGGTGCTTCTGTGGTGAAGGAGCTTTCATCATTCACCCTTGGCACAG | |
| 17 | g.43049121del | CA2580093948 | BRCA1 | c.5403del (p.Gly1802ValfsTer?) c.5406del (p.Gly1803ValfsTer?) c.5280del (p.Gly1761ValfsTer?) c.5400del (p.Gly1801ValfsTer?) c.5328del (p.Gly1777ValfsTer?) c.2094del (p.Gly699ValfsTer?) c.1956del (p.Gly653ValfsTer?) c.4518del (p.Gly1507ValfsTer?) c.5283del (p.Gly1762ValfsTer?) c.5472del (p.Gly1825ValfsTer?) c.5265del (p.Gly1756ValfsTer?) c.1968del (p.Gly657ValfsTer?) n.1289del c.5469del (p.Gly1824ValfsTer?) c.1793del c.1980del (p.Gly661ValfsTer?) c.*5189del (n.*5189del) c.2021-1418del (n.2021-1418del) c.336del (p.Gly113ValfsTer?) c.879del (p.Gly294ValfsTer?) c.105del (p.Gly36ValfsTer?) n.5542del n.5583del | ClinVar |
| 17 | g.43049121T>A | CA500143272 | BRCA1 | c.5403A>T (p.Thr1801=) c.5406A>T (p.Thr1802=) c.5280A>T (p.Thr1760=) c.5400A>T (p.Thr1800=) c.5328A>T (p.Thr1776=) c.2094A>T (p.Thr698=) c.1956A>T (p.Thr652=) c.4518A>T (p.Thr1506=) c.5283A>T (p.Thr1761=) c.5472A>T (p.Thr1824=) c.5265A>T (p.Thr1755=) c.1968A>T (p.Thr656=) n.1289A>T c.5469A>T (p.Thr1823=) c.1793A>T c.1980A>T (p.Thr660=) c.*5189A>T (n.*5189A>T) c.2021-1418A>T (n.2021-1418A>T) c.336A>T (p.Thr112=) c.879A>T (p.Thr293=) c.105A>T (p.Thr35=) n.5542A>T n.5583A>T | ClinVar dbSNP |
| 17 | g.43049121T>C | CA500143273 | BRCA1 | c.5403A>G (p.Thr1801=) c.5406A>G (p.Thr1802=) c.5280A>G (p.Thr1760=) c.5400A>G (p.Thr1800=) c.5328A>G (p.Thr1776=) c.2094A>G (p.Thr698=) c.1956A>G (p.Thr652=) c.4518A>G (p.Thr1506=) c.5283A>G (p.Thr1761=) c.5472A>G (p.Thr1824=) c.5265A>G (p.Thr1755=) c.1968A>G (p.Thr656=) n.1289A>G c.5469A>G (p.Thr1823=) c.1793A>G c.1980A>G (p.Thr660=) c.*5189A>G (n.*5189A>G) c.2021-1418A>G (n.2021-1418A>G) c.336A>G (p.Thr112=) c.879A>G (p.Thr293=) c.105A>G (p.Thr35=) n.5542A>G n.5583A>G | ClinVar dbSNP |
| 17 | g.43049121T>G | CA10586115 | BRCA1 | c.5403A>C (p.Thr1801=) c.5406A>C (p.Thr1802=) c.5280A>C (p.Thr1760=) c.5400A>C (p.Thr1800=) c.5328A>C (p.Thr1776=) c.2094A>C (p.Thr698=) c.1956A>C (p.Thr652=) c.4518A>C (p.Thr1506=) c.5283A>C (p.Thr1761=) c.5472A>C (p.Thr1824=) c.5265A>C (p.Thr1755=) c.1968A>C (p.Thr656=) n.1289A>C c.5469A>C (p.Thr1823=) c.1793A>C c.1980A>C (p.Thr660=) c.*5189A>C (n.*5189A>C) c.2021-1418A>C (n.2021-1418A>C) c.336A>C (p.Thr112=) c.879A>C (p.Thr293=) c.105A>C (p.Thr35=) n.5542A>C n.5583A>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049121T= | CA2260762708 | BRCA1 | c.5403A= (p.Thr1801=) c.5406A= (p.Thr1802=) c.5280A= (p.Thr1760=) c.5400A= (p.Thr1800=) c.5328A= (p.Thr1776=) c.2094A= (p.Thr698=) c.1956A= (p.Thr652=) c.4518A= (p.Thr1506=) c.5283A= (p.Thr1761=) c.5472A= (p.Thr1824=) c.5265A= (p.Thr1755=) c.1968A= (p.Thr656=) n.1289A= c.5469A= (p.Thr1823=) c.1793A= c.1980A= (p.Thr660=) c.*5189A= (n.*5189A=) c.2021-1418A= (n.2021-1418A=) c.336A= (p.Thr112=) c.879A= (p.Thr293=) c.105A= (p.Thr35=) n.5542A= n.5583A= | |
| 17 | g.43049121_43049194del | CA1139665551 | BRCA1 | c.5330_5403del (p.Asp1777GlyfsTer27) c.5333_5406del (p.Asp1778GlyfsTer27) c.5207_5280del (p.Asp1736GlyfsTer27) c.5327_5400del (p.Asp1776GlyfsTer27) c.5255_5328del (p.Asp1752GlyfsTer27) c.2021_2094del (p.Asp674GlyfsTer27) c.1883_1956del (p.Asp628GlyfsTer27) c.4445_4518del (p.Asp1482GlyfsTer27) c.5210_5283del (p.Asp1737GlyfsTer27) c.5399_5472del (p.Asp1800GlyfsTer27) c.5192_5265del (p.Asp1731GlyfsTer27) c.1895_1968del (p.Asp632GlyfsTer27) n.1216_1289del c.5396_5469del (p.Asp1799GlyfsTer27) c.1720_1793del c.1907_1980del (p.Asp636GlyfsTer27) c.*5116_*5189del (n.*5116_*5189del) c.2021-1491_2021-1418del (n.2021-1491_2021-1418del) c.263_336del (p.Asp88GlyfsTer27) c.806_879del (p.Asp269GlyfsTer27) c.32_105del (p.Tyr11TrpfsTer27) n.5469_5542del n.5510_5583del | ClinVar dbSNP |
| 17 | g.43049122G>A | CA10590666 | BRCA1 | c.5402C>T (p.Thr1801Ile) c.5405C>T (p.Thr1802Ile) c.5279C>T (p.Thr1760Ile) c.5399C>T (p.Thr1800Ile) c.5327C>T (p.Thr1776Ile) c.2093C>T (p.Thr698Ile) c.1955C>T (p.Thr652Ile) c.4517C>T (p.Thr1506Ile) c.5282C>T (p.Thr1761Ile) c.5471C>T (p.Thr1824Ile) c.5264C>T (p.Thr1755Ile) c.1967C>T (p.Thr656Ile) n.1288C>T c.5468C>T (p.Thr1823Ile) c.1792C>T c.1979C>T (p.Thr660Ile) c.*5188C>T (n.*5188C>T) c.2021-1419C>T (n.2021-1419C>T) c.335C>T (p.Thr112Ile) c.878C>T (p.Thr293Ile) c.104C>T (p.Thr35Ile) n.5541C>T n.5582C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049122G>C | CA10590667 | BRCA1 | c.5402C>G (p.Thr1801Arg) c.5405C>G (p.Thr1802Arg) c.5279C>G (p.Thr1760Arg) c.5399C>G (p.Thr1800Arg) c.5327C>G (p.Thr1776Arg) c.2093C>G (p.Thr698Arg) c.1955C>G (p.Thr652Arg) c.4517C>G (p.Thr1506Arg) c.5282C>G (p.Thr1761Arg) c.5471C>G (p.Thr1824Arg) c.5264C>G (p.Thr1755Arg) c.1967C>G (p.Thr656Arg) n.1288C>G c.5468C>G (p.Thr1823Arg) c.1792C>G c.1979C>G (p.Thr660Arg) c.*5188C>G (n.*5188C>G) c.2021-1419C>G (n.2021-1419C>G) c.335C>G (p.Thr112Arg) c.878C>G (p.Thr293Arg) c.104C>G (p.Thr35Arg) n.5541C>G n.5582C>G | ClinVar dbSNP |
| 17 | g.43049122G= | CA2260762709 | BRCA1 | c.5402C= (p.Thr1801=) c.5405C= (p.Thr1802=) c.5279C= (p.Thr1760=) c.5399C= (p.Thr1800=) c.5327C= (p.Thr1776=) c.2093C= (p.Thr698=) c.1955C= (p.Thr652=) c.4517C= (p.Thr1506=) c.5282C= (p.Thr1761=) c.5471C= (p.Thr1824=) c.5264C= (p.Thr1755=) c.1967C= (p.Thr656=) n.1288C= c.5468C= (p.Thr1823=) c.1792C= c.1979C= (p.Thr660=) c.*5188C= (n.*5188C=) c.2021-1419C= (n.2021-1419C=) c.335C= (p.Thr112=) c.878C= (p.Thr293=) c.104C= (p.Thr35=) n.5541C= n.5582C= | |
| 17 | g.43049122G>T | CA10590668 | BRCA1 | c.5402C>A (p.Thr1801Lys) c.5405C>A (p.Thr1802Lys) c.5279C>A (p.Thr1760Lys) c.5399C>A (p.Thr1800Lys) c.5327C>A (p.Thr1776Lys) c.2093C>A (p.Thr698Lys) c.1955C>A (p.Thr652Lys) c.4517C>A (p.Thr1506Lys) c.5282C>A (p.Thr1761Lys) c.5471C>A (p.Thr1824Lys) c.5264C>A (p.Thr1755Lys) c.1967C>A (p.Thr656Lys) n.1288C>A c.5468C>A (p.Thr1823Lys) c.1792C>A c.1979C>A (p.Thr660Lys) c.*5188C>A (n.*5188C>A) c.2021-1419C>A (n.2021-1419C>A) c.335C>A (p.Thr112Lys) c.878C>A (p.Thr293Lys) c.104C>A (p.Thr35Lys) n.5541C>A n.5582C>A | ClinVar dbSNP |
| 17 | g.43049122_43049137dup | CA919844191 | BRCA1 | c.5387_5402dup (p.Gly1802IlefsTer32) c.5390_5405dup (p.Gly1803IlefsTer32) c.5264_5279dup (p.Gly1761IlefsTer32) c.5384_5399dup (p.Gly1801IlefsTer32) c.5312_5327dup (p.Gly1777IlefsTer32) c.2078_2093dup (p.Gly699IlefsTer32) c.1940_1955dup (p.Gly653IlefsTer32) c.4502_4517dup (p.Gly1507IlefsTer32) c.5267_5282dup (p.Gly1762IlefsTer32) c.5456_5471dup (p.Gly1825IlefsTer32) c.5249_5264dup (p.Gly1756IlefsTer32) c.1952_1967dup (p.Gly657IlefsTer32) n.1273_1288dup c.5453_5468dup (p.Gly1824IlefsTer32) c.1777_1792dup c.1964_1979dup (p.Gly661IlefsTer32) c.*5173_*5188dup (n.*5173_*5188dup) c.2021-1434_2021-1419dup (n.2021-1434_2021-1419dup) c.320_335dup (p.Gly113IlefsTer32) c.863_878dup (p.Gly294IlefsTer32) c.89_104dup (p.Gly36IlefsTer32) n.5526_5541dup n.5567_5582dup | dbSNP |
| 17 | g.43049123T>A | CA10590669 | BRCA1 | c.5401A>T (p.Thr1801Ser) c.5404A>T (p.Thr1802Ser) c.5278A>T (p.Thr1760Ser) c.5398A>T (p.Thr1800Ser) c.5326A>T (p.Thr1776Ser) c.2092A>T (p.Thr698Ser) c.1954A>T (p.Thr652Ser) c.4516A>T (p.Thr1506Ser) c.5281A>T (p.Thr1761Ser) c.5470A>T (p.Thr1824Ser) c.5263A>T (p.Thr1755Ser) c.1966A>T (p.Thr656Ser) n.1287A>T c.5467A>T (p.Thr1823Ser) c.1791A>T c.1978A>T (p.Thr660Ser) c.*5187A>T (n.*5187A>T) c.2021-1420A>T (n.2021-1420A>T) c.334A>T (p.Thr112Ser) c.877A>T (p.Thr293Ser) c.103A>T (p.Thr35Ser) n.5540A>T n.5581A>T | ClinVar dbSNP |
| 17 | g.43049123T>C | CA10590670 | BRCA1 | c.5401A>G (p.Thr1801Ala) c.5404A>G (p.Thr1802Ala) c.5278A>G (p.Thr1760Ala) c.5398A>G (p.Thr1800Ala) c.5326A>G (p.Thr1776Ala) c.2092A>G (p.Thr698Ala) c.1954A>G (p.Thr652Ala) c.4516A>G (p.Thr1506Ala) c.5281A>G (p.Thr1761Ala) c.5470A>G (p.Thr1824Ala) c.5263A>G (p.Thr1755Ala) c.1966A>G (p.Thr656Ala) n.1287A>G c.5467A>G (p.Thr1823Ala) c.1791A>G c.1978A>G (p.Thr660Ala) c.*5187A>G (n.*5187A>G) c.2021-1420A>G (n.2021-1420A>G) c.334A>G (p.Thr112Ala) c.877A>G (p.Thr293Ala) c.103A>G (p.Thr35Ala) n.5540A>G n.5581A>G | ClinVar dbSNP |
| 17 | g.43049123T>G | CA10590671 | BRCA1 | c.5401A>C (p.Thr1801Pro) c.5404A>C (p.Thr1802Pro) c.5278A>C (p.Thr1760Pro) c.5398A>C (p.Thr1800Pro) c.5326A>C (p.Thr1776Pro) c.2092A>C (p.Thr698Pro) c.1954A>C (p.Thr652Pro) c.4516A>C (p.Thr1506Pro) c.5281A>C (p.Thr1761Pro) c.5470A>C (p.Thr1824Pro) c.5263A>C (p.Thr1755Pro) c.1966A>C (p.Thr656Pro) n.1287A>C c.5467A>C (p.Thr1823Pro) c.1791A>C c.1978A>C (p.Thr660Pro) c.*5187A>C (n.*5187A>C) c.2021-1420A>C (n.2021-1420A>C) c.334A>C (p.Thr112Pro) c.877A>C (p.Thr293Pro) c.103A>C (p.Thr35Pro) n.5540A>C n.5581A>C | ClinVar dbSNP |
| 17 | g.43049123T= | CA2260762710 | BRCA1 | c.5401A= (p.Thr1801=) c.5404A= (p.Thr1802=) c.5278A= (p.Thr1760=) c.5398A= (p.Thr1800=) c.5326A= (p.Thr1776=) c.2092A= (p.Thr698=) c.1954A= (p.Thr652=) c.4516A= (p.Thr1506=) c.5281A= (p.Thr1761=) c.5470A= (p.Thr1824=) c.5263A= (p.Thr1755=) c.1966A= (p.Thr656=) n.1287A= c.5467A= (p.Thr1823=) c.1791A= c.1978A= (p.Thr660=) c.*5187A= (n.*5187A=) c.2021-1420A= (n.2021-1420A=) c.334A= (p.Thr112=) c.877A= (p.Thr293=) c.103A= (p.Thr35=) n.5540A= n.5581A= | |
| 17 | g.43049124G>A | CA500143276 | BRCA1 | c.5400C>T (p.Gly1800=) c.5403C>T (p.Gly1801=) c.5277C>T (p.Gly1759=) c.5397C>T (p.Gly1799=) c.5325C>T (p.Gly1775=) c.2091C>T (p.Gly697=) c.1953C>T (p.Gly651=) c.4515C>T (p.Gly1505=) c.5280C>T (p.Gly1760=) c.5469C>T (p.Gly1823=) c.5262C>T (p.Gly1754=) c.1965C>T (p.Gly655=) n.1286C>T c.5466C>T (p.Gly1822=) c.1790C>T c.1977C>T (p.Gly659=) c.*5186C>T (n.*5186C>T) c.2021-1421C>T (n.2021-1421C>T) c.333C>T (p.Gly111=) c.876C>T (p.Gly292=) c.102C>T (p.Gly34=) n.5539C>T n.5580C>T | ClinVar dbSNP |
| 17 | g.43049124G>C | CA500143274 | BRCA1 | c.5400C>G (p.Gly1800=) c.5403C>G (p.Gly1801=) c.5277C>G (p.Gly1759=) c.5397C>G (p.Gly1799=) c.5325C>G (p.Gly1775=) c.2091C>G (p.Gly697=) c.1953C>G (p.Gly651=) c.4515C>G (p.Gly1505=) c.5280C>G (p.Gly1760=) c.5469C>G (p.Gly1823=) c.5262C>G (p.Gly1754=) c.1965C>G (p.Gly655=) n.1286C>G c.5466C>G (p.Gly1822=) c.1790C>G c.1977C>G (p.Gly659=) c.*5186C>G (n.*5186C>G) c.2021-1421C>G (n.2021-1421C>G) c.333C>G (p.Gly111=) c.876C>G (p.Gly292=) c.102C>G (p.Gly34=) n.5539C>G n.5580C>G | ClinVar dbSNP |
| 17 | g.43049124G= | CA2260762711 | BRCA1 | c.5400C= (p.Gly1800=) c.5403C= (p.Gly1801=) c.5277C= (p.Gly1759=) c.5397C= (p.Gly1799=) c.5325C= (p.Gly1775=) c.2091C= (p.Gly697=) c.1953C= (p.Gly651=) c.4515C= (p.Gly1505=) c.5280C= (p.Gly1760=) c.5469C= (p.Gly1823=) c.5262C= (p.Gly1754=) c.1965C= (p.Gly655=) n.1286C= c.5466C= (p.Gly1822=) c.1790C= c.1977C= (p.Gly659=) c.*5186C= (n.*5186C=) c.2021-1421C= (n.2021-1421C=) c.333C= (p.Gly111=) c.876C= (p.Gly292=) c.102C= (p.Gly34=) n.5539C= n.5580C= | |
| 17 | g.43049124G>T | CA500143275 | BRCA1 | c.5400C>A (p.Gly1800=) c.5403C>A (p.Gly1801=) c.5277C>A (p.Gly1759=) c.5397C>A (p.Gly1799=) c.5325C>A (p.Gly1775=) c.2091C>A (p.Gly697=) c.1953C>A (p.Gly651=) c.4515C>A (p.Gly1505=) c.5280C>A (p.Gly1760=) c.5469C>A (p.Gly1823=) c.5262C>A (p.Gly1754=) c.1965C>A (p.Gly655=) n.1286C>A c.5466C>A (p.Gly1822=) c.1790C>A c.1977C>A (p.Gly659=) c.*5186C>A (n.*5186C>A) c.2021-1421C>A (n.2021-1421C>A) c.333C>A (p.Gly111=) c.876C>A (p.Gly292=) c.102C>A (p.Gly34=) n.5539C>A n.5580C>A | ClinVar dbSNP |
| 17 | g.43049125_43049131del | CA658761190 | BRCA1 | c.5394_5400del (p.Leu1799GlnfsTer?) c.5397_5403del (p.Leu1800GlnfsTer?) c.5271_5277del (p.Leu1758GlnfsTer?) c.5391_5397del (p.Leu1798GlnfsTer?) c.5319_5325del (p.Leu1774GlnfsTer?) c.2085_2091del (p.Leu696GlnfsTer?) c.1947_1953del (p.Leu650GlnfsTer?) c.4509_4515del (p.Leu1504GlnfsTer?) c.5274_5280del (p.Leu1759GlnfsTer?) c.5463_5469del (p.Leu1822GlnfsTer?) c.5256_5262del (p.Leu1753GlnfsTer?) c.1959_1965del (p.Leu654GlnfsTer?) n.1280_1286del c.5460_5466del (p.Leu1821GlnfsTer?) c.1784_1790del c.1971_1977del (p.Leu658GlnfsTer?) c.*5180_*5186del (n.*5180_*5186del) c.2021-1427_2021-1421del (n.2021-1427_2021-1421del) c.327_333del (p.Leu110GlnfsTer?) c.870_876del (p.Leu291GlnfsTer?) c.96_102del (p.Leu33GlnfsTer?) n.5533_5539del n.5574_5580del | |
| 17 | g.43049125C>A | CA10590672 | BRCA1 | c.5399G>T (p.Gly1800Val) c.5402G>T (p.Gly1801Val) c.5276G>T (p.Gly1759Val) c.5396G>T (p.Gly1799Val) c.5324G>T (p.Gly1775Val) c.2090G>T (p.Gly697Val) c.1952G>T (p.Gly651Val) c.4514G>T (p.Gly1505Val) c.5279G>T (p.Gly1760Val) c.5468G>T (p.Gly1823Val) c.5261G>T (p.Gly1754Val) c.1964G>T (p.Gly655Val) n.1285G>T c.5465G>T (p.Gly1822Val) c.1789G>T c.1976G>T (p.Gly659Val) c.*5185G>T (n.*5185G>T) c.2021-1422G>T (n.2021-1422G>T) c.332G>T (p.Gly111Val) c.875G>T (p.Gly292Val) c.101G>T (p.Gly34Val) n.5538G>T n.5579G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43049125C= | CA2260762712 | BRCA1 | c.5399G= (p.Gly1800=) c.5402G= (p.Gly1801=) c.5276G= (p.Gly1759=) c.5396G= (p.Gly1799=) c.5324G= (p.Gly1775=) c.2090G= (p.Gly697=) c.1952G= (p.Gly651=) c.4514G= (p.Gly1505=) c.5279G= (p.Gly1760=) c.5468G= (p.Gly1823=) c.5261G= (p.Gly1754=) c.1964G= (p.Gly655=) n.1285G= c.5465G= (p.Gly1822=) c.1789G= c.1976G= (p.Gly659=) c.*5185G= (n.*5185G=) c.2021-1422G= (n.2021-1422G=) c.332G= (p.Gly111=) c.875G= (p.Gly292=) c.101G= (p.Gly34=) n.5538G= n.5579G= |