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.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.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= | |
| 17 | g.43051088A>C | CA10590934 | BRCA1 | c.5304T>G (p.Tyr1768Ter) c.5307T>G (p.Tyr1769Ter) c.5181T>G (p.Tyr1727Ter) c.5301T>G (p.Tyr1767Ter) c.5229T>G (p.Tyr1743Ter) c.1995T>G (p.Tyr665Ter) c.1857T>G (p.Tyr619Ter) c.4419T>G (p.Tyr1473Ter) c.5184T>G (p.Tyr1728Ter) c.5373T>G (p.Tyr1791Ter) c.5166T>G (p.Tyr1722Ter) c.1869T>G (p.Tyr623Ter) c.5370T>G (p.Tyr1790Ter) c.1694T>G c.1881T>G (p.Tyr627Ter) c.*5090T>G (n.*5090T>G) c.237T>G (p.Tyr79Ter) c.780T>G (p.Tyr260Ter) c.-98-898T>G (n.-98-898T>G) n.5443T>G n.5484T>G | ClinVar dbSNP |
| 17 | g.43051088A>G | CA500143590 | BRCA1 | c.5304T>C (p.Tyr1768=) c.5307T>C (p.Tyr1769=) c.5181T>C (p.Tyr1727=) c.5301T>C (p.Tyr1767=) c.5229T>C (p.Tyr1743=) c.1995T>C (p.Tyr665=) c.1857T>C (p.Tyr619=) c.4419T>C (p.Tyr1473=) c.5184T>C (p.Tyr1728=) c.5373T>C (p.Tyr1791=) c.5166T>C (p.Tyr1722=) c.1869T>C (p.Tyr623=) c.5370T>C (p.Tyr1790=) c.1694T>C c.1881T>C (p.Tyr627=) c.*5090T>C (n.*5090T>C) c.237T>C (p.Tyr79=) c.780T>C (p.Tyr260=) c.-98-898T>C (n.-98-898T>C) n.5443T>C n.5484T>C | ClinVar dbSNP |
| 17 | g.43051088A>T | CA003459 | BRCA1 | c.5304T>A (p.Tyr1768Ter) c.5307T>A (p.Tyr1769Ter) c.5181T>A (p.Tyr1727Ter) c.5301T>A (p.Tyr1767Ter) c.5229T>A (p.Tyr1743Ter) c.1995T>A (p.Tyr665Ter) c.1857T>A (p.Tyr619Ter) c.4419T>A (p.Tyr1473Ter) c.5184T>A (p.Tyr1728Ter) c.5373T>A (p.Tyr1791Ter) c.5166T>A (p.Tyr1722Ter) c.1869T>A (p.Tyr623Ter) c.5370T>A (p.Tyr1790Ter) c.1694T>A c.1881T>A (p.Tyr627Ter) c.*5090T>A (n.*5090T>A) c.237T>A (p.Tyr79Ter) c.780T>A (p.Tyr260Ter) c.-98-898T>A (n.-98-898T>A) n.5443T>A n.5484T>A | ClinVar dbSNP |
| 17 | g.43051088_43051089insGGTGAAGGGCATGTTGGTGA | CA2580094084 | BRCA1 | c.5304_5305insCACCAACATGCCCTTCACCT (p.Gly1769HisfsTer30) c.5307_5308insCACCAACATGCCCTTCACCT (p.Gly1770HisfsTer30) c.5181_5182insCACCAACATGCCCTTCACCT (p.Gly1728HisfsTer30) c.5301_5302insCACCAACATGCCCTTCACCT (p.Gly1768HisfsTer30) c.5229_5230insCACCAACATGCCCTTCACCT (p.Gly1744HisfsTer30) c.1995_1996insCACCAACATGCCCTTCACCT (p.Gly666HisfsTer30) c.1857_1858insCACCAACATGCCCTTCACCT (p.Gly620HisfsTer30) c.4419_4420insCACCAACATGCCCTTCACCT (p.Gly1474HisfsTer30) c.5184_5185insCACCAACATGCCCTTCACCT (p.Gly1729HisfsTer30) c.5373_5374insCACCAACATGCCCTTCACCT (p.Gly1792HisfsTer30) c.5166_5167insCACCAACATGCCCTTCACCT (p.Gly1723HisfsTer30) c.1869_1870insCACCAACATGCCCTTCACCT (p.Gly624HisfsTer30) c.5370_5371insCACCAACATGCCCTTCACCT (p.Gly1791HisfsTer30) c.1694_1695insCACCAACATGCCCTTCACCT c.1881_1882insCACCAACATGCCCTTCACCT (p.Gly628HisfsTer30) c.*5090_*5091insCACCAACATGCCCTTCACCT (n.*5090_*5091insCACCAACATGCCCTTCACCT) c.1995_1996insCACCAACATGCCCTTCACCT (p.Gly666HisfsTer?) c.237_238insCACCAACATGCCCTTCACCT (p.Gly80HisfsTer30) c.780_781insCACCAACATGCCCTTCACCT (p.Gly261HisfsTer30) c.-98-898_-98-897insCACCAACATGCCCTTCACCT (n.-98-898_-98-897insCACCAACATGCCCTTCACCT) n.5443_5444insCACCAACATGCCCTTCACCT n.5484_5485insCACCAACATGCCCTTCACCT | ClinVar dbSNP |
| 17 | g.43051089T>A | CA10590935 | BRCA1 | c.5303A>T (p.Tyr1768Phe) c.5306A>T (p.Tyr1769Phe) c.5180A>T (p.Tyr1727Phe) c.5300A>T (p.Tyr1767Phe) c.5228A>T (p.Tyr1743Phe) c.1994A>T (p.Tyr665Phe) c.1856A>T (p.Tyr619Phe) c.4418A>T (p.Tyr1473Phe) c.5183A>T (p.Tyr1728Phe) c.5372A>T (p.Tyr1791Phe) c.5165A>T (p.Tyr1722Phe) c.1868A>T (p.Tyr623Phe) c.5369A>T (p.Tyr1790Phe) c.1693A>T c.1880A>T (p.Tyr627Phe) c.*5089A>T (n.*5089A>T) c.236A>T (p.Tyr79Phe) c.779A>T (p.Tyr260Phe) c.-98-899A>T (n.-98-899A>T) n.5442A>T n.5483A>T | ClinVar dbSNP |
| 17 | g.43051089T>C | CA003458 | BRCA1 | c.5303A>G (p.Tyr1768Cys) c.5306A>G (p.Tyr1769Cys) c.5180A>G (p.Tyr1727Cys) c.5300A>G (p.Tyr1767Cys) c.5228A>G (p.Tyr1743Cys) c.1994A>G (p.Tyr665Cys) c.1856A>G (p.Tyr619Cys) c.4418A>G (p.Tyr1473Cys) c.5183A>G (p.Tyr1728Cys) c.5372A>G (p.Tyr1791Cys) c.5165A>G (p.Tyr1722Cys) c.1868A>G (p.Tyr623Cys) c.5369A>G (p.Tyr1790Cys) c.1693A>G c.1880A>G (p.Tyr627Cys) c.*5089A>G (n.*5089A>G) c.236A>G (p.Tyr79Cys) c.779A>G (p.Tyr260Cys) c.-98-899A>G (n.-98-899A>G) n.5442A>G n.5483A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43051089T>G | CA10590936 | BRCA1 | c.5303A>C (p.Tyr1768Ser) c.5306A>C (p.Tyr1769Ser) c.5180A>C (p.Tyr1727Ser) c.5300A>C (p.Tyr1767Ser) c.5228A>C (p.Tyr1743Ser) c.1994A>C (p.Tyr665Ser) c.1856A>C (p.Tyr619Ser) c.4418A>C (p.Tyr1473Ser) c.5183A>C (p.Tyr1728Ser) c.5372A>C (p.Tyr1791Ser) c.5165A>C (p.Tyr1722Ser) c.1868A>C (p.Tyr623Ser) c.5369A>C (p.Tyr1790Ser) c.1693A>C c.1880A>C (p.Tyr627Ser) c.*5089A>C (n.*5089A>C) c.236A>C (p.Tyr79Ser) c.779A>C (p.Tyr260Ser) c.-98-899A>C (n.-98-899A>C) n.5442A>C n.5483A>C | ClinVar dbSNP |
| 17 | g.43051089T= | CA2260763718 | BRCA1 | c.5303A= (p.Tyr1768=) c.5306A= (p.Tyr1769=) c.5180A= (p.Tyr1727=) c.5300A= (p.Tyr1767=) c.5228A= (p.Tyr1743=) c.1994A= (p.Tyr665=) c.1856A= (p.Tyr619=) c.4418A= (p.Tyr1473=) c.5183A= (p.Tyr1728=) c.5372A= (p.Tyr1791=) c.5165A= (p.Tyr1722=) c.1868A= (p.Tyr623=) c.5369A= (p.Tyr1790=) c.1693A= c.1880A= (p.Tyr627=) c.*5089A= (n.*5089A=) c.236A= (p.Tyr79=) c.779A= (p.Tyr260=) c.-98-899A= (n.-98-899A=) n.5442A= n.5483A= | |
| 17 | g.43051089dup | CA2499224358 | BRCA1 | c.5303dup (p.Tyr1768Ter) c.5306dup (p.Tyr1769Ter) c.5180dup (p.Tyr1727Ter) c.5300dup (p.Tyr1767Ter) c.5228dup (p.Tyr1743Ter) c.1994dup (p.Tyr665Ter) c.1856dup (p.Tyr619Ter) c.4418dup (p.Tyr1473Ter) c.5183dup (p.Tyr1728Ter) c.5372dup (p.Tyr1791Ter) c.5165dup (p.Tyr1722Ter) c.1868dup (p.Tyr623Ter) c.5369dup (p.Tyr1790Ter) c.1693dup c.1880dup (p.Tyr627Ter) c.*5089dup (n.*5089dup) c.236dup (p.Tyr79Ter) c.779dup (p.Tyr260Ter) c.-98-899dup (n.-98-899dup) n.5442dup n.5483dup | ClinVar dbSNP |
| 17 | g.43051090A= | CA2260763720 | BRCA1 | c.5302T= (p.Tyr1768=) c.5305T= (p.Tyr1769=) c.5179T= (p.Tyr1727=) c.5299T= (p.Tyr1767=) c.5227T= (p.Tyr1743=) c.1993T= (p.Tyr665=) c.1855T= (p.Tyr619=) c.4417T= (p.Tyr1473=) c.5182T= (p.Tyr1728=) c.5371T= (p.Tyr1791=) c.5164T= (p.Tyr1722=) c.1867T= (p.Tyr623=) c.5368T= (p.Tyr1790=) c.1692T= c.1879T= (p.Tyr627=) c.*5088T= (n.*5088T=) c.235T= (p.Tyr79=) c.778T= (p.Tyr260=) c.-98-900T= (n.-98-900T=) n.5441T= n.5482T= | |
| 17 | g.43051090A>C | CA10590937 | BRCA1 | c.5302T>G (p.Tyr1768Asp) c.5305T>G (p.Tyr1769Asp) c.5179T>G (p.Tyr1727Asp) c.5299T>G (p.Tyr1767Asp) c.5227T>G (p.Tyr1743Asp) c.1993T>G (p.Tyr665Asp) c.1855T>G (p.Tyr619Asp) c.4417T>G (p.Tyr1473Asp) c.5182T>G (p.Tyr1728Asp) c.5371T>G (p.Tyr1791Asp) c.5164T>G (p.Tyr1722Asp) c.1867T>G (p.Tyr623Asp) c.5368T>G (p.Tyr1790Asp) c.1692T>G c.1879T>G (p.Tyr627Asp) c.*5088T>G (n.*5088T>G) c.235T>G (p.Tyr79Asp) c.778T>G (p.Tyr260Asp) c.-98-900T>G (n.-98-900T>G) n.5441T>G n.5482T>G | ClinVar dbSNP |
| 17 | g.43051090A>G | CA10590938 | BRCA1 | c.5302T>C (p.Tyr1768His) c.5305T>C (p.Tyr1769His) c.5179T>C (p.Tyr1727His) c.5299T>C (p.Tyr1767His) c.5227T>C (p.Tyr1743His) c.1993T>C (p.Tyr665His) c.1855T>C (p.Tyr619His) c.4417T>C (p.Tyr1473His) c.5182T>C (p.Tyr1728His) c.5371T>C (p.Tyr1791His) c.5164T>C (p.Tyr1722His) c.1867T>C (p.Tyr623His) c.5368T>C (p.Tyr1790His) c.1692T>C c.1879T>C (p.Tyr627His) c.*5088T>C (n.*5088T>C) c.235T>C (p.Tyr79His) c.778T>C (p.Tyr260His) c.-98-900T>C (n.-98-900T>C) n.5441T>C n.5482T>C | |
| 17 | g.43051090A>T | CA10590939 | BRCA1 | c.5302T>A (p.Tyr1768Asn) c.5305T>A (p.Tyr1769Asn) c.5179T>A (p.Tyr1727Asn) c.5299T>A (p.Tyr1767Asn) c.5227T>A (p.Tyr1743Asn) c.1993T>A (p.Tyr665Asn) c.1855T>A (p.Tyr619Asn) c.4417T>A (p.Tyr1473Asn) c.5182T>A (p.Tyr1728Asn) c.5371T>A (p.Tyr1791Asn) c.5164T>A (p.Tyr1722Asn) c.1867T>A (p.Tyr623Asn) c.5368T>A (p.Tyr1790Asn) c.1692T>A c.1879T>A (p.Tyr627Asn) c.*5088T>A (n.*5088T>A) c.235T>A (p.Tyr79Asn) c.778T>A (p.Tyr260Asn) c.-98-900T>A (n.-98-900T>A) n.5441T>A n.5482T>A | ClinVar dbSNP |