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.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.43051061_43051084delinsACCTGTGGGCATGTTGGTGAAGGG | CA2260763680 | BRCA1 | c.5308_5329+2delinsCCCTTCACCAACATGCCCACAGGT c.5311_5332+2delinsCCCTTCACCAACATGCCCACAGGT c.5185_5206+2delinsCCCTTCACCAACATGCCCACAGGT c.5305_5326+2delinsCCCTTCACCAACATGCCCACAGGT c.5233_5254+2delinsCCCTTCACCAACATGCCCACAGGT c.1999_2020+2delinsCCCTTCACCAACATGCCCACAGGT c.1861_1882+2delinsCCCTTCACCAACATGCCCACAGGT c.4423_4444+2delinsCCCTTCACCAACATGCCCACAGGT c.5188_5209+2delinsCCCTTCACCAACATGCCCACAGGT c.5377_5398+2delinsCCCTTCACCAACATGCCCACAGGT c.5170_5191+2delinsCCCTTCACCAACATGCCCACAGGT c.1873_1894+2delinsCCCTTCACCAACATGCCCACAGGT c.5374_5395+2delinsCCCTTCACCAACATGCCCACAGGT c.1698_1719+2delinsCCCTTCACCAACATGCCCACAGGT c.1885_1906+2delinsCCCTTCACCAACATGCCCACAGGT c.*5094_*5115+2delinsCCCTTCACCAACATGCCCACAGGT c.241_262+2delinsCCCTTCACCAACATGCCCACAGGT c.784_805+2delinsCCCTTCACCAACATGCCCACAGGT c.-98-894_-98-871delinsCCCTTCACCAACATGCCCACAGGT (n.-98-894_-98-871delinsCCCTTCACCAACATGCCCACAGGT) n.5447_5468+2delinsCCCTTCACCAACATGCCCACAGGT n.5488_5509+2delinsCCCTTCACCAACATGCCCACAGGT | |
| 17 | g.43051061_43051118del | CA2499224356 | BRCA1 | c.5275-1_5329+2del c.5278-1_5332+2del c.5152-1_5206+2del c.5272-1_5326+2del c.5200-1_5254+2del c.1966-1_2020+2del c.1828-1_1882+2del c.4390-1_4444+2del c.5155-1_5209+2del c.5344-1_5398+2del c.5137-1_5191+2del c.1840-1_1894+2del c.5341-1_5395+2del c.1665-1_1719+2del c.1852-1_1906+2del c.*5061-1_*5115+2del c.208-1_262+2del c.751-1_805+2del c.-98-928_-98-871del (n.-98-928_-98-871del) n.5414-1_5468+2del n.5455-1_5509+2del | ClinVar dbSNP |
| 17 | g.43051064_43051086del | CA10602574 | BRCA1 | c.5308_5329+1del c.5311_5332+1del c.5185_5206+1del c.5305_5326+1del c.5233_5254+1del c.1999_2020+1del c.1861_1882+1del c.4423_4444+1del c.5188_5209+1del c.5377_5398+1del c.5170_5191+1del c.1873_1894+1del c.5374_5395+1del c.1698_1719+1del c.1885_1906+1del c.*5094_*5115+1del c.241_262+1del c.784_805+1del c.-98-894_-98-872del (n.-98-894_-98-872del) n.5447_5468+1del n.5488_5509+1del | ClinVar dbSNP |
| 17 | g.43051062_43051116delinsCCTGTGGGCATGTTGGTGAAGGGCCCATAGCAACAGATTTCTAGCCCCCTGAAGA | CA2260763684 | BRCA1 | c.5276_5329+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5279_5332+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5153_5206+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5273_5326+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5201_5254+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.1967_2020+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.1829_1882+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.4391_4444+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5156_5209+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5345_5398+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5138_5191+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.1841_1894+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.5342_5395+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.1666_1719+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.1853_1906+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.*5062_*5115+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.209_262+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.752_805+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG c.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG (n.-98-926_-98-872delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG) n.5415_5468+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG n.5456_5509+1delinsTCTTCAGGGGGCTAGAAATCTGTTGCTATGGGCCCTTCACCAACATGCCCACAGG | |
| 17 | g.43051063_43051116del | CA645373155 | BRCA1 | c.5276_5329del (p.Ile1759_Asp1777delinsAsn) c.5279_5332del (p.Ile1760_Asp1778delinsAsn) c.5153_5206del (p.Ile1718_Asp1736delinsAsn) c.5273_5326del (p.Ile1758_Asp1776delinsAsn) c.5201_5254del (p.Ile1734_Asp1752delinsAsn) c.1967_2020del (p.Ile656_Asp674delinsAsn) c.1829_1882del (p.Ile610_Asp628delinsAsn) c.4391_4444del (p.Ile1464_Asp1482delinsAsn) c.5156_5209del (p.Ile1719_Asp1737delinsAsn) c.5345_5398del (p.Ile1782_Asp1800delinsAsn) c.5138_5191del (p.Ile1713_Asp1731delinsAsn) c.1841_1894del (p.Ile614_Asp632delinsAsn) c.5342_5395del (p.Ile1781_Asp1799delinsAsn) c.1666_1719del c.1853_1906del (p.Ile618_Asp636delinsAsn) c.*5062_*5115del (n.*5062_*5115del) c.1967_2020del (p.Ile656_Gly674delinsArg) c.209_262del (p.Ile70_Asp88delinsAsn) c.752_805del (p.Ile251_Asp269delinsAsn) c.-98-926_-98-873del (n.-98-926_-98-873del) n.5415_5468del n.5456_5509del | ClinVar dbSNP |
| 17 | g.43051066_43057138del | CA2581463411 | BRCA1 | c.5191_5329del c.5194_5332del c.5068_5206del c.5188_5326del c.5116_5254del c.1882_2020del c.1744_1882del c.4306_4444del c.5071_5209del c.5260_5398del c.5053_5191del c.1756_1894del c.5257_5395del c.1581_1719del c.1768_1906del c.*4977_*5115del c.124_262del c.667_805del c.-98-6945_-98-873del (n.-98-6945_-98-873del) n.5330_5468del n.5371_5509del | |
| 17 | g.43051081del | CA003469 | BRCA1 | c.5312del (p.Phe1771SerfsTer21) c.5315del (p.Phe1772SerfsTer21) c.5189del (p.Phe1730SerfsTer21) c.5309del (p.Phe1770SerfsTer21) c.5237del (p.Phe1746SerfsTer21) c.2003del (p.Phe668SerfsTer21) c.1865del (p.Phe622SerfsTer21) c.4427del (p.Phe1476SerfsTer21) c.5192del (p.Phe1731SerfsTer21) c.5381del (p.Phe1794SerfsTer21) c.5174del (p.Phe1725SerfsTer21) c.1877del (p.Phe626SerfsTer21) c.5378del (p.Phe1793SerfsTer21) c.1702del c.1889del (p.Phe630SerfsTer21) c.*5098del (n.*5098del) c.2003del (p.Phe668SerfsTer?) c.245del (p.Phe82SerfsTer21) c.788del (p.Phe263SerfsTer21) c.-98-890del (n.-98-890del) n.5451del n.5492del | ClinVar dbSNP |
| 17 | g.43051080_43051102dup | CA645577431 | BRCA1 | c.5290_5312dup (p.Phe1771LeufsTer29) c.5293_5315dup (p.Phe1772LeufsTer29) c.5167_5189dup (p.Phe1730LeufsTer29) c.5287_5309dup (p.Phe1770LeufsTer29) c.5215_5237dup (p.Phe1746LeufsTer29) c.1981_2003dup (p.Phe668LeufsTer29) c.1843_1865dup (p.Phe622LeufsTer29) c.4405_4427dup (p.Phe1476LeufsTer29) c.5170_5192dup (p.Phe1731LeufsTer29) c.5359_5381dup (p.Phe1794LeufsTer29) c.5152_5174dup (p.Phe1725LeufsTer29) c.1855_1877dup (p.Phe626LeufsTer29) c.5356_5378dup (p.Phe1793LeufsTer29) c.1680_1702dup c.1867_1889dup (p.Phe630LeufsTer29) c.*5076_*5098dup (n.*5076_*5098dup) c.1981_2003dup (p.Phe668LeufsTer?) c.223_245dup (p.Phe82LeufsTer29) c.766_788dup (p.Phe263LeufsTer29) c.-98-912_-98-890dup (n.-98-912_-98-890dup) n.5429_5451dup n.5470_5492dup | COSMIC COSMIC |
| 17 | g.43051081A= | CA2260763703 | BRCA1 | c.5311T= (p.Phe1771=) c.5314T= (p.Phe1772=) c.5188T= (p.Phe1730=) c.5308T= (p.Phe1770=) c.5236T= (p.Phe1746=) c.2002T= (p.Phe668=) c.1864T= (p.Phe622=) c.4426T= (p.Phe1476=) c.5191T= (p.Phe1731=) c.5380T= (p.Phe1794=) c.5173T= (p.Phe1725=) c.1876T= (p.Phe626=) c.5377T= (p.Phe1793=) c.1701T= c.1888T= (p.Phe630=) c.*5097T= (n.*5097T=) c.244T= (p.Phe82=) c.787T= (p.Phe263=) c.-98-891T= (n.-98-891T=) n.5450T= n.5491T= | |
| 17 | g.43051081A>C | CA10590923 | BRCA1 | c.5311T>G (p.Phe1771Val) c.5314T>G (p.Phe1772Val) c.5188T>G (p.Phe1730Val) c.5308T>G (p.Phe1770Val) c.5236T>G (p.Phe1746Val) c.2002T>G (p.Phe668Val) c.1864T>G (p.Phe622Val) c.4426T>G (p.Phe1476Val) c.5191T>G (p.Phe1731Val) c.5380T>G (p.Phe1794Val) c.5173T>G (p.Phe1725Val) c.1876T>G (p.Phe626Val) c.5377T>G (p.Phe1793Val) c.1701T>G c.1888T>G (p.Phe630Val) c.*5097T>G (n.*5097T>G) c.244T>G (p.Phe82Val) c.787T>G (p.Phe263Val) c.-98-891T>G (n.-98-891T>G) n.5450T>G n.5491T>G | ClinVar dbSNP |
| 17 | g.43051081A>G | CA10590924 | BRCA1 | c.5311T>C (p.Phe1771Leu) c.5314T>C (p.Phe1772Leu) c.5188T>C (p.Phe1730Leu) c.5308T>C (p.Phe1770Leu) c.5236T>C (p.Phe1746Leu) c.2002T>C (p.Phe668Leu) c.1864T>C (p.Phe622Leu) c.4426T>C (p.Phe1476Leu) c.5191T>C (p.Phe1731Leu) c.5380T>C (p.Phe1794Leu) c.5173T>C (p.Phe1725Leu) c.1876T>C (p.Phe626Leu) c.5377T>C (p.Phe1793Leu) c.1701T>C c.1888T>C (p.Phe630Leu) c.*5097T>C (n.*5097T>C) c.244T>C (p.Phe82Leu) c.787T>C (p.Phe263Leu) c.-98-891T>C (n.-98-891T>C) n.5450T>C n.5491T>C | ClinVar dbSNP |
| 17 | g.43051081A>T | CA10590925 | BRCA1 | c.5311T>A (p.Phe1771Ile) c.5314T>A (p.Phe1772Ile) c.5188T>A (p.Phe1730Ile) c.5308T>A (p.Phe1770Ile) c.5236T>A (p.Phe1746Ile) c.2002T>A (p.Phe668Ile) c.1864T>A (p.Phe622Ile) c.4426T>A (p.Phe1476Ile) c.5191T>A (p.Phe1731Ile) c.5380T>A (p.Phe1794Ile) c.5173T>A (p.Phe1725Ile) c.1876T>A (p.Phe626Ile) c.5377T>A (p.Phe1793Ile) c.1701T>A c.1888T>A (p.Phe630Ile) c.*5097T>A (n.*5097T>A) c.244T>A (p.Phe82Ile) c.787T>A (p.Phe263Ile) c.-98-891T>A (n.-98-891T>A) n.5450T>A n.5491T>A | ClinVar dbSNP |
| 17 | g.43051082G>A | CA500143586 | BRCA1 | c.5310C>T (p.Pro1770=) c.5313C>T (p.Pro1771=) c.5187C>T (p.Pro1729=) c.5307C>T (p.Pro1769=) c.5235C>T (p.Pro1745=) c.2001C>T (p.Pro667=) c.1863C>T (p.Pro621=) c.4425C>T (p.Pro1475=) c.5190C>T (p.Pro1730=) c.5379C>T (p.Pro1793=) c.5172C>T (p.Pro1724=) c.1875C>T (p.Pro625=) c.5376C>T (p.Pro1792=) c.1700C>T c.1887C>T (p.Pro629=) c.*5096C>T (n.*5096C>T) c.243C>T (p.Pro81=) c.786C>T (p.Pro262=) c.-98-892C>T (n.-98-892C>T) n.5449C>T n.5490C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 17 | g.43051082G>C | CA500143588 | BRCA1 | c.5310C>G (p.Pro1770=) c.5313C>G (p.Pro1771=) c.5187C>G (p.Pro1729=) c.5307C>G (p.Pro1769=) c.5235C>G (p.Pro1745=) c.2001C>G (p.Pro667=) c.1863C>G (p.Pro621=) c.4425C>G (p.Pro1475=) c.5190C>G (p.Pro1730=) c.5379C>G (p.Pro1793=) c.5172C>G (p.Pro1724=) c.1875C>G (p.Pro625=) c.5376C>G (p.Pro1792=) c.1700C>G c.1887C>G (p.Pro629=) c.*5096C>G (n.*5096C>G) c.243C>G (p.Pro81=) c.786C>G (p.Pro262=) c.-98-892C>G (n.-98-892C>G) n.5449C>G n.5490C>G | ClinVar dbSNP |
| 17 | g.43051082G= | CA2260763706 | BRCA1 | c.5310C= (p.Pro1770=) c.5313C= (p.Pro1771=) c.5187C= (p.Pro1729=) c.5307C= (p.Pro1769=) c.5235C= (p.Pro1745=) c.2001C= (p.Pro667=) c.1863C= (p.Pro621=) c.4425C= (p.Pro1475=) c.5190C= (p.Pro1730=) c.5379C= (p.Pro1793=) c.5172C= (p.Pro1724=) c.1875C= (p.Pro625=) c.5376C= (p.Pro1792=) c.1700C= c.1887C= (p.Pro629=) c.*5096C= (n.*5096C=) c.243C= (p.Pro81=) c.786C= (p.Pro262=) c.-98-892C= (n.-98-892C=) n.5449C= n.5490C= | |
| 17 | g.43051082G>T | CA500143587 | BRCA1 | c.5310C>A (p.Pro1770=) c.5313C>A (p.Pro1771=) c.5187C>A (p.Pro1729=) c.5307C>A (p.Pro1769=) c.5235C>A (p.Pro1745=) c.2001C>A (p.Pro667=) c.1863C>A (p.Pro621=) c.4425C>A (p.Pro1475=) c.5190C>A (p.Pro1730=) c.5379C>A (p.Pro1793=) c.5172C>A (p.Pro1724=) c.1875C>A (p.Pro625=) c.5376C>A (p.Pro1792=) c.1700C>A c.1887C>A (p.Pro629=) c.*5096C>A (n.*5096C>A) c.243C>A (p.Pro81=) c.786C>A (p.Pro262=) c.-98-892C>A (n.-98-892C>A) n.5449C>A n.5490C>A | ClinVar dbSNP |
| 17 | g.43051083G>A | CA003467 | BRCA1 | c.5309C>T (p.Pro1770Leu) c.5312C>T (p.Pro1771Leu) c.5186C>T (p.Pro1729Leu) c.5306C>T (p.Pro1769Leu) c.5234C>T (p.Pro1745Leu) c.2000C>T (p.Pro667Leu) c.1862C>T (p.Pro621Leu) c.4424C>T (p.Pro1475Leu) c.5189C>T (p.Pro1730Leu) c.5378C>T (p.Pro1793Leu) c.5171C>T (p.Pro1724Leu) c.1874C>T (p.Pro625Leu) c.5375C>T (p.Pro1792Leu) c.1699C>T c.1886C>T (p.Pro629Leu) c.*5095C>T (n.*5095C>T) c.242C>T (p.Pro81Leu) c.785C>T (p.Pro262Leu) c.-98-893C>T (n.-98-893C>T) n.5448C>T n.5489C>T | ClinVar dbSNP |
| 17 | g.43051083G>C | CA003466 | BRCA1 | c.5309C>G (p.Pro1770Arg) c.5312C>G (p.Pro1771Arg) c.5186C>G (p.Pro1729Arg) c.5306C>G (p.Pro1769Arg) c.5234C>G (p.Pro1745Arg) c.2000C>G (p.Pro667Arg) c.1862C>G (p.Pro621Arg) c.4424C>G (p.Pro1475Arg) c.5189C>G (p.Pro1730Arg) c.5378C>G (p.Pro1793Arg) c.5171C>G (p.Pro1724Arg) c.1874C>G (p.Pro625Arg) c.5375C>G (p.Pro1792Arg) c.1699C>G c.1886C>G (p.Pro629Arg) c.*5095C>G (n.*5095C>G) c.242C>G (p.Pro81Arg) c.785C>G (p.Pro262Arg) c.-98-893C>G (n.-98-893C>G) n.5448C>G n.5489C>G | ClinVar dbSNP |
| 17 | g.43051083G= | CA2260763708 | BRCA1 | c.5309C= (p.Pro1770=) c.5312C= (p.Pro1771=) c.5186C= (p.Pro1729=) c.5306C= (p.Pro1769=) c.5234C= (p.Pro1745=) c.2000C= (p.Pro667=) c.1862C= (p.Pro621=) c.4424C= (p.Pro1475=) c.5189C= (p.Pro1730=) c.5378C= (p.Pro1793=) c.5171C= (p.Pro1724=) c.1874C= (p.Pro625=) c.5375C= (p.Pro1792=) c.1699C= c.1886C= (p.Pro629=) c.*5095C= (n.*5095C=) c.242C= (p.Pro81=) c.785C= (p.Pro262=) c.-98-893C= (n.-98-893C=) n.5448C= n.5489C= | |
| 17 | g.43051083G>T | CA10590926 | BRCA1 | c.5309C>A (p.Pro1770His) c.5312C>A (p.Pro1771His) c.5186C>A (p.Pro1729His) c.5306C>A (p.Pro1769His) c.5234C>A (p.Pro1745His) c.2000C>A (p.Pro667His) c.1862C>A (p.Pro621His) c.4424C>A (p.Pro1475His) c.5189C>A (p.Pro1730His) c.5378C>A (p.Pro1793His) c.5171C>A (p.Pro1724His) c.1874C>A (p.Pro625His) c.5375C>A (p.Pro1792His) c.1699C>A c.1886C>A (p.Pro629His) c.*5095C>A (n.*5095C>A) c.242C>A (p.Pro81His) c.785C>A (p.Pro262His) c.-98-893C>A (n.-98-893C>A) n.5448C>A n.5489C>A | ClinVar dbSNP |
| 17 | g.43051083_43051085delinsGGC | CA2260763709 | BRCA1 | c.5307_5309delinsGCC (p.Gly1769=) c.5310_5312delinsGCC (p.Gly1770=) c.5184_5186delinsGCC (p.Gly1728=) c.5304_5306delinsGCC (p.Gly1768=) c.5232_5234delinsGCC (p.Gly1744=) c.1998_2000delinsGCC (p.Gly666=) c.1860_1862delinsGCC (p.Gly620=) c.4422_4424delinsGCC (p.Gly1474=) c.5187_5189delinsGCC (p.Gly1729=) c.5376_5378delinsGCC (p.Gly1792=) c.5169_5171delinsGCC (p.Gly1723=) c.1872_1874delinsGCC (p.Gly624=) c.5373_5375delinsGCC (p.Gly1791=) c.1697_1699delinsGCC c.1884_1886delinsGCC (p.Gly628=) c.*5093_*5095delinsGCC (n.*5093_*5095delinsGCC) c.240_242delinsGCC (p.Gly80=) c.783_785delinsGCC (p.Gly261=) c.-98-895_-98-893delinsGCC (n.-98-895_-98-893delinsGCC) n.5446_5448delinsGCC n.5487_5489delinsGCC | |
| 17 | g.43051083_43051086dup | CA2582342185 | BRCA1 | c.5306_5309dup (p.Phe1771AlafsTer?) c.5309_5312dup (p.Phe1772AlafsTer?) c.5183_5186dup (p.Phe1730AlafsTer?) c.5303_5306dup (p.Phe1770AlafsTer?) c.5231_5234dup (p.Phe1746AlafsTer?) c.1997_2000dup (p.Phe668AlafsTer?) c.1859_1862dup (p.Phe622AlafsTer?) c.4421_4424dup (p.Phe1476AlafsTer?) c.5186_5189dup (p.Phe1731AlafsTer?) c.5375_5378dup (p.Phe1794AlafsTer?) c.5168_5171dup (p.Phe1725AlafsTer?) c.1871_1874dup (p.Phe626AlafsTer?) c.5372_5375dup (p.Phe1793AlafsTer?) c.1696_1699dup c.1883_1886dup (p.Phe630AlafsTer?) c.*5092_*5095dup (n.*5092_*5095dup) c.239_242dup (p.Phe82AlafsTer?) c.782_785dup (p.Phe263AlafsTer?) c.-98-896_-98-893dup (n.-98-896_-98-893dup) n.5445_5448dup n.5486_5489dup | ClinVar |
| 17 | g.43051084G>A | CA10590927 | BRCA1 | c.5308C>T (p.Pro1770Ser) c.5311C>T (p.Pro1771Ser) c.5185C>T (p.Pro1729Ser) c.5305C>T (p.Pro1769Ser) c.5233C>T (p.Pro1745Ser) c.1999C>T (p.Pro667Ser) c.1861C>T (p.Pro621Ser) c.4423C>T (p.Pro1475Ser) c.5188C>T (p.Pro1730Ser) c.5377C>T (p.Pro1793Ser) c.5170C>T (p.Pro1724Ser) c.1873C>T (p.Pro625Ser) c.5374C>T (p.Pro1792Ser) c.1698C>T c.1885C>T (p.Pro629Ser) c.*5094C>T (n.*5094C>T) c.241C>T (p.Pro81Ser) c.784C>T (p.Pro262Ser) c.-98-894C>T (n.-98-894C>T) n.5447C>T n.5488C>T | ClinVar dbSNP |
| 17 | g.43051084G>C | CA054462 | BRCA1 | c.5308C>G (p.Pro1770Ala) c.5311C>G (p.Pro1771Ala) c.5185C>G (p.Pro1729Ala) c.5305C>G (p.Pro1769Ala) c.5233C>G (p.Pro1745Ala) c.1999C>G (p.Pro667Ala) c.1861C>G (p.Pro621Ala) c.4423C>G (p.Pro1475Ala) c.5188C>G (p.Pro1730Ala) c.5377C>G (p.Pro1793Ala) c.5170C>G (p.Pro1724Ala) c.1873C>G (p.Pro625Ala) c.5374C>G (p.Pro1792Ala) c.1698C>G c.1885C>G (p.Pro629Ala) c.*5094C>G (n.*5094C>G) c.241C>G (p.Pro81Ala) c.784C>G (p.Pro262Ala) c.-98-894C>G (n.-98-894C>G) n.5447C>G n.5488C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43051084G= | CA2260763712 | BRCA1 | c.5308C= (p.Pro1770=) c.5311C= (p.Pro1771=) c.5185C= (p.Pro1729=) c.5305C= (p.Pro1769=) c.5233C= (p.Pro1745=) c.1999C= (p.Pro667=) c.1861C= (p.Pro621=) c.4423C= (p.Pro1475=) c.5188C= (p.Pro1730=) c.5377C= (p.Pro1793=) c.5170C= (p.Pro1724=) c.1873C= (p.Pro625=) c.5374C= (p.Pro1792=) c.1698C= c.1885C= (p.Pro629=) c.*5094C= (n.*5094C=) c.241C= (p.Pro81=) c.784C= (p.Pro262=) c.-98-894C= (n.-98-894C=) n.5447C= n.5488C= | |
| 17 | g.43051084G>T | CA10590928 | BRCA1 | c.5308C>A (p.Pro1770Thr) c.5311C>A (p.Pro1771Thr) c.5185C>A (p.Pro1729Thr) c.5305C>A (p.Pro1769Thr) c.5233C>A (p.Pro1745Thr) c.1999C>A (p.Pro667Thr) c.1861C>A (p.Pro621Thr) c.4423C>A (p.Pro1475Thr) c.5188C>A (p.Pro1730Thr) c.5377C>A (p.Pro1793Thr) c.5170C>A (p.Pro1724Thr) c.1873C>A (p.Pro625Thr) c.5374C>A (p.Pro1792Thr) c.1698C>A c.1885C>A (p.Pro629Thr) c.*5094C>A (n.*5094C>A) c.241C>A (p.Pro81Thr) c.784C>A (p.Pro262Thr) c.-98-894C>A (n.-98-894C>A) n.5447C>A n.5488C>A | ClinVar dbSNP |
| 17 | g.43051084_43051085del | CA003463 | BRCA1 | c.5307_5308del (p.Pro1770LeufsTer?) c.5310_5311del (p.Pro1771LeufsTer?) c.5184_5185del (p.Pro1729LeufsTer?) c.5304_5305del (p.Pro1769LeufsTer?) c.5232_5233del (p.Pro1745LeufsTer?) c.1998_1999del (p.Pro667LeufsTer?) c.1860_1861del (p.Pro621LeufsTer?) c.4422_4423del (p.Pro1475LeufsTer?) c.5187_5188del (p.Pro1730LeufsTer?) c.5376_5377del (p.Pro1793LeufsTer?) c.5169_5170del (p.Pro1724LeufsTer?) c.1872_1873del (p.Pro625LeufsTer?) c.5373_5374del (p.Pro1792LeufsTer?) c.1697_1698del c.1884_1885del (p.Pro629LeufsTer?) c.*5093_*5094del (n.*5093_*5094del) c.240_241del (p.Pro81LeufsTer?) c.783_784del (p.Pro262LeufsTer?) c.-98-895_-98-894del (n.-98-895_-98-894del) n.5446_5447del n.5487_5488del | ClinVar dbSNP |
| 17 | g.43051084_43051085delinsGC | CA2260763713 | BRCA1 | c.5307_5308delinsGC (p.Gly1769=) c.5310_5311delinsGC (p.Gly1770=) c.5184_5185delinsGC (p.Gly1728=) c.5304_5305delinsGC (p.Gly1768=) c.5232_5233delinsGC (p.Gly1744=) c.1998_1999delinsGC (p.Gly666=) c.1860_1861delinsGC (p.Gly620=) c.4422_4423delinsGC (p.Gly1474=) c.5187_5188delinsGC (p.Gly1729=) c.5376_5377delinsGC (p.Gly1792=) c.5169_5170delinsGC (p.Gly1723=) c.1872_1873delinsGC (p.Gly624=) c.5373_5374delinsGC (p.Gly1791=) c.1697_1698delinsGC c.1884_1885delinsGC (p.Gly628=) c.*5093_*5094delinsGC (n.*5093_*5094delinsGC) c.240_241delinsGC (p.Gly80=) c.783_784delinsGC (p.Gly261=) c.-98-895_-98-894delinsGC (n.-98-895_-98-894delinsGC) n.5446_5447delinsGC n.5487_5488delinsGC | |
| 17 | g.43051085C>A | CA500143589 | BRCA1 | c.5307G>T (p.Gly1769=) c.5310G>T (p.Gly1770=) c.5184G>T (p.Gly1728=) c.5304G>T (p.Gly1768=) c.5232G>T (p.Gly1744=) c.1998G>T (p.Gly666=) c.1860G>T (p.Gly620=) c.4422G>T (p.Gly1474=) c.5187G>T (p.Gly1729=) c.5376G>T (p.Gly1792=) c.5169G>T (p.Gly1723=) c.1872G>T (p.Gly624=) c.5373G>T (p.Gly1791=) c.1697G>T c.1884G>T (p.Gly628=) c.*5093G>T (n.*5093G>T) c.240G>T (p.Gly80=) c.783G>T (p.Gly261=) c.-98-895G>T (n.-98-895G>T) n.5446G>T n.5487G>T | ClinVar dbSNP |
| 17 | g.43051085C= | CA2260763714 | BRCA1 | c.5307G= (p.Gly1769=) c.5310G= (p.Gly1770=) c.5184G= (p.Gly1728=) c.5304G= (p.Gly1768=) c.5232G= (p.Gly1744=) c.1998G= (p.Gly666=) c.1860G= (p.Gly620=) c.4422G= (p.Gly1474=) c.5187G= (p.Gly1729=) c.5376G= (p.Gly1792=) c.5169G= (p.Gly1723=) c.1872G= (p.Gly624=) c.5373G= (p.Gly1791=) c.1697G= c.1884G= (p.Gly628=) c.*5093G= (n.*5093G=) c.240G= (p.Gly80=) c.783G= (p.Gly261=) c.-98-895G= (n.-98-895G=) n.5446G= n.5487G= | |
| 17 | g.43051085C>G | CA054451 | BRCA1 | c.5307G>C (p.Gly1769=) c.5310G>C (p.Gly1770=) c.5184G>C (p.Gly1728=) c.5304G>C (p.Gly1768=) c.5232G>C (p.Gly1744=) c.1998G>C (p.Gly666=) c.1860G>C (p.Gly620=) c.4422G>C (p.Gly1474=) c.5187G>C (p.Gly1729=) c.5376G>C (p.Gly1792=) c.5169G>C (p.Gly1723=) c.1872G>C (p.Gly624=) c.5373G>C (p.Gly1791=) c.1697G>C c.1884G>C (p.Gly628=) c.*5093G>C (n.*5093G>C) c.240G>C (p.Gly80=) c.783G>C (p.Gly261=) c.-98-895G>C (n.-98-895G>C) n.5446G>C n.5487G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43051085C>T | CA003465 | BRCA1 | c.5307G>A (p.Gly1769=) c.5310G>A (p.Gly1770=) c.5184G>A (p.Gly1728=) c.5304G>A (p.Gly1768=) c.5232G>A (p.Gly1744=) c.1998G>A (p.Gly666=) c.1860G>A (p.Gly620=) c.4422G>A (p.Gly1474=) c.5187G>A (p.Gly1729=) c.5376G>A (p.Gly1792=) c.5169G>A (p.Gly1723=) c.1872G>A (p.Gly624=) c.5373G>A (p.Gly1791=) c.1697G>A c.1884G>A (p.Gly628=) c.*5093G>A (n.*5093G>A) c.240G>A (p.Gly80=) c.783G>A (p.Gly261=) c.-98-895G>A (n.-98-895G>A) n.5446G>A n.5487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43051085_43051086delinsAA | CA2695226117 | BRCA1 | c.5306_5307delinsTT (p.Gly1769Val) c.5309_5310delinsTT (p.Gly1770Val) c.5183_5184delinsTT (p.Gly1728Val) c.5303_5304delinsTT (p.Gly1768Val) c.5231_5232delinsTT (p.Gly1744Val) c.1997_1998delinsTT (p.Gly666Val) c.1859_1860delinsTT (p.Gly620Val) c.4421_4422delinsTT (p.Gly1474Val) c.5186_5187delinsTT (p.Gly1729Val) c.5375_5376delinsTT (p.Gly1792Val) c.5168_5169delinsTT (p.Gly1723Val) c.1871_1872delinsTT (p.Gly624Val) c.5372_5373delinsTT (p.Gly1791Val) c.1696_1697delinsTT c.1883_1884delinsTT (p.Gly628Val) c.*5092_*5093delinsTT (n.*5092_*5093delinsTT) c.239_240delinsTT (p.Gly80Val) c.782_783delinsTT (p.Gly261Val) c.-98-896_-98-895delinsTT (n.-98-896_-98-895delinsTT) n.5445_5446delinsTT n.5486_5487delinsTT | |
| 17 | g.43051087dup | CA327998 | BRCA1 | c.5307dup (p.Pro1770AlafsTer?) c.5310dup (p.Pro1771AlafsTer?) c.5184dup (p.Pro1729AlafsTer?) c.5304dup (p.Pro1769AlafsTer?) c.5232dup (p.Pro1745AlafsTer?) c.1998dup (p.Pro667AlafsTer?) c.1860dup (p.Pro621AlafsTer?) c.4422dup (p.Pro1475AlafsTer?) c.5187dup (p.Pro1730AlafsTer?) c.5376dup (p.Pro1793AlafsTer?) c.5169dup (p.Pro1724AlafsTer?) c.1872dup (p.Pro625AlafsTer?) c.5373dup (p.Pro1792AlafsTer?) c.1697dup c.1884dup (p.Pro629AlafsTer?) c.*5093dup (n.*5093dup) c.240dup (p.Pro81AlafsTer?) c.783dup (p.Pro262AlafsTer?) c.-98-895dup (n.-98-895dup) n.5446dup n.5487dup | ClinVar dbSNP |
| 17 | g.43051087del | CA003461 | BRCA1 | c.5307del (p.Phe1771SerfsTer21) c.5310del (p.Phe1772SerfsTer21) c.5184del (p.Phe1730SerfsTer21) c.5304del (p.Phe1770SerfsTer21) c.5232del (p.Phe1746SerfsTer21) c.1998del (p.Phe668SerfsTer21) c.1860del (p.Phe622SerfsTer21) c.4422del (p.Phe1476SerfsTer21) c.5187del (p.Phe1731SerfsTer21) c.5376del (p.Phe1794SerfsTer21) c.5169del (p.Phe1725SerfsTer21) c.1872del (p.Phe626SerfsTer21) c.5373del (p.Phe1793SerfsTer21) c.1697del c.1884del (p.Phe630SerfsTer21) c.*5093del (n.*5093del) c.1998del (p.Phe668SerfsTer?) c.240del (p.Phe82SerfsTer21) c.783del (p.Phe263SerfsTer21) c.-98-895del (n.-98-895del) n.5446del n.5487del | ClinVar dbSNP gnomAD v4 |
| 17 | g.43051086C>A | CA10590929 | BRCA1 | c.5306G>T (p.Gly1769Val) c.5309G>T (p.Gly1770Val) c.5183G>T (p.Gly1728Val) c.5303G>T (p.Gly1768Val) c.5231G>T (p.Gly1744Val) c.1997G>T (p.Gly666Val) c.1859G>T (p.Gly620Val) c.4421G>T (p.Gly1474Val) c.5186G>T (p.Gly1729Val) c.5375G>T (p.Gly1792Val) c.5168G>T (p.Gly1723Val) c.1871G>T (p.Gly624Val) c.5372G>T (p.Gly1791Val) c.1696G>T c.1883G>T (p.Gly628Val) c.*5092G>T (n.*5092G>T) c.239G>T (p.Gly80Val) c.782G>T (p.Gly261Val) c.-98-896G>T (n.-98-896G>T) n.5445G>T n.5486G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43051086C= | CA2260763715 | BRCA1 | c.5306G= (p.Gly1769=) c.5309G= (p.Gly1770=) c.5183G= (p.Gly1728=) c.5303G= (p.Gly1768=) c.5231G= (p.Gly1744=) c.1997G= (p.Gly666=) c.1859G= (p.Gly620=) c.4421G= (p.Gly1474=) c.5186G= (p.Gly1729=) c.5375G= (p.Gly1792=) c.5168G= (p.Gly1723=) c.1871G= (p.Gly624=) c.5372G= (p.Gly1791=) c.1696G= c.1883G= (p.Gly628=) c.*5092G= (n.*5092G=) c.239G= (p.Gly80=) c.782G= (p.Gly261=) c.-98-896G= (n.-98-896G=) n.5445G= n.5486G= | |
| 17 | g.43051086C>G | CA338563 | BRCA1 | c.5306G>C (p.Gly1769Ala) c.5309G>C (p.Gly1770Ala) c.5183G>C (p.Gly1728Ala) c.5303G>C (p.Gly1768Ala) c.5231G>C (p.Gly1744Ala) c.1997G>C (p.Gly666Ala) c.1859G>C (p.Gly620Ala) c.4421G>C (p.Gly1474Ala) c.5186G>C (p.Gly1729Ala) c.5375G>C (p.Gly1792Ala) c.5168G>C (p.Gly1723Ala) c.1871G>C (p.Gly624Ala) c.5372G>C (p.Gly1791Ala) c.1696G>C c.1883G>C (p.Gly628Ala) c.*5092G>C (n.*5092G>C) c.239G>C (p.Gly80Ala) c.782G>C (p.Gly261Ala) c.-98-896G>C (n.-98-896G>C) n.5445G>C n.5486G>C | ClinVar dbSNP |
| 17 | g.43051086C>T | CA10590930 | BRCA1 | c.5306G>A (p.Gly1769Glu) c.5309G>A (p.Gly1770Glu) c.5183G>A (p.Gly1728Glu) c.5303G>A (p.Gly1768Glu) c.5231G>A (p.Gly1744Glu) c.1997G>A (p.Gly666Glu) c.1859G>A (p.Gly620Glu) c.4421G>A (p.Gly1474Glu) c.5186G>A (p.Gly1729Glu) c.5375G>A (p.Gly1792Glu) c.5168G>A (p.Gly1723Glu) c.1871G>A (p.Gly624Glu) c.5372G>A (p.Gly1791Glu) c.1696G>A c.1883G>A (p.Gly628Glu) c.*5092G>A (n.*5092G>A) c.239G>A (p.Gly80Glu) c.782G>A (p.Gly261Glu) c.-98-896G>A (n.-98-896G>A) n.5445G>A n.5486G>A | ClinVar dbSNP |
| 17 | g.43051087C>A | CA10590931 | BRCA1 | c.5305G>T (p.Gly1769Trp) c.5308G>T (p.Gly1770Trp) c.5182G>T (p.Gly1728Trp) c.5302G>T (p.Gly1768Trp) c.5230G>T (p.Gly1744Trp) c.1996G>T (p.Gly666Trp) c.1858G>T (p.Gly620Trp) c.4420G>T (p.Gly1474Trp) c.5185G>T (p.Gly1729Trp) c.5374G>T (p.Gly1792Trp) c.5167G>T (p.Gly1723Trp) c.1870G>T (p.Gly624Trp) c.5371G>T (p.Gly1791Trp) c.1695G>T c.1882G>T (p.Gly628Trp) c.*5091G>T (n.*5091G>T) c.238G>T (p.Gly80Trp) c.781G>T (p.Gly261Trp) c.-98-897G>T (n.-98-897G>T) n.5444G>T n.5485G>T | ClinVar dbSNP |
| 17 | g.43051087C= | CA2260763716 | BRCA1 | c.5305G= (p.Gly1769=) c.5308G= (p.Gly1770=) c.5182G= (p.Gly1728=) c.5302G= (p.Gly1768=) c.5230G= (p.Gly1744=) c.1996G= (p.Gly666=) c.1858G= (p.Gly620=) c.4420G= (p.Gly1474=) c.5185G= (p.Gly1729=) c.5374G= (p.Gly1792=) c.5167G= (p.Gly1723=) c.1870G= (p.Gly624=) c.5371G= (p.Gly1791=) c.1695G= c.1882G= (p.Gly628=) c.*5091G= (n.*5091G=) c.238G= (p.Gly80=) c.781G= (p.Gly261=) c.-98-897G= (n.-98-897G=) n.5444G= n.5485G= | |
| 17 | g.43051087C>G | CA10590932 | BRCA1 | c.5305G>C (p.Gly1769Arg) c.5308G>C (p.Gly1770Arg) c.5182G>C (p.Gly1728Arg) c.5302G>C (p.Gly1768Arg) c.5230G>C (p.Gly1744Arg) c.1996G>C (p.Gly666Arg) c.1858G>C (p.Gly620Arg) c.4420G>C (p.Gly1474Arg) c.5185G>C (p.Gly1729Arg) c.5374G>C (p.Gly1792Arg) c.5167G>C (p.Gly1723Arg) c.1870G>C (p.Gly624Arg) c.5371G>C (p.Gly1791Arg) c.1695G>C c.1882G>C (p.Gly628Arg) c.*5091G>C (n.*5091G>C) c.238G>C (p.Gly80Arg) c.781G>C (p.Gly261Arg) c.-98-897G>C (n.-98-897G>C) n.5444G>C n.5485G>C | ClinVar dbSNP |
| 17 | g.43051087C>T | CA10590933 | BRCA1 | c.5305G>A (p.Gly1769Arg) c.5308G>A (p.Gly1770Arg) c.5182G>A (p.Gly1728Arg) c.5302G>A (p.Gly1768Arg) c.5230G>A (p.Gly1744Arg) c.1996G>A (p.Gly666Arg) c.1858G>A (p.Gly620Arg) c.4420G>A (p.Gly1474Arg) c.5185G>A (p.Gly1729Arg) c.5374G>A (p.Gly1792Arg) c.5167G>A (p.Gly1723Arg) c.1870G>A (p.Gly624Arg) c.5371G>A (p.Gly1791Arg) c.1695G>A c.1882G>A (p.Gly628Arg) c.*5091G>A (n.*5091G>A) c.238G>A (p.Gly80Arg) c.781G>A (p.Gly261Arg) c.-98-897G>A (n.-98-897G>A) n.5444G>A n.5485G>A | ClinVar dbSNP |
| 17 | g.43051088A= | CA2260763717 | BRCA1 | c.5304T= (p.Tyr1768=) c.5307T= (p.Tyr1769=) c.5181T= (p.Tyr1727=) c.5301T= (p.Tyr1767=) c.5229T= (p.Tyr1743=) c.1995T= (p.Tyr665=) c.1857T= (p.Tyr619=) c.4419T= (p.Tyr1473=) c.5184T= (p.Tyr1728=) c.5373T= (p.Tyr1791=) c.5166T= (p.Tyr1722=) c.1869T= (p.Tyr623=) c.5370T= (p.Tyr1790=) c.1694T= c.1881T= (p.Tyr627=) c.*5090T= (n.*5090T=) c.237T= (p.Tyr79=) c.780T= (p.Tyr260=) c.-98-898T= (n.-98-898T=) n.5443T= n.5484T= |