Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43041660_43046086delinsCTGTGCA2580093779 ClinVar
17g.43041662_43046087delinsTGCA16043342 ClinVar
17g.43044295_43045802delCA915950020 ClinVar
17g.43044924_43051621delCA2580093785BRCA1c.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
17g.43045093_43046211delCA2697559962BRCA1c.5465-364_*630del
c.5468-364_*630del
c.5342-364_*630del
c.5462-364_*630del
c.5390-364_*630del
c.2156-364_*630del
c.2018-364_*630del
c.4580-364_*630del
c.5345-364_*630del
c.5327-364_*630del
n.1351-364_2105del
n.832-364_1586del
c.5531-364_*630del
c.2042-364_*630del
c.2082-364_*736del
n.5604-364_6358del
n.5645-364_6399del
 ClinVar
17g.43045329_43045805delCA2581463415BRCA1c.5465_*352del
c.5468_*352del
c.5342_*352del
c.5462_*352del
c.5390_*352del
c.2156_*352del
c.2018_*352del
c.4580_*352del
c.5345_*352del
c.5534_*352del
c.5327_*352del
n.1351_1827del
n.832_1308del
c.5531_*352del
c.1855_2331del
c.2042_*352del
c.2082_*458del
n.5604_6080del
n.5645_6121del
17g.43045658_43051137delCA915940399BRCA1c.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
17g.43045676_43045803delCA2499224337BRCA1c.5467_*5del
c.5470_*5del
c.5344_*5del
c.5464_*5del
c.5392_*5del
c.2158_*5del
c.2020_*5del
c.4582_*5del
c.5347_*5del
c.5536_*5del
c.5329_*5del
c.2032_*5del
n.1353_1480del
n.834_961del
c.5533_*5del
c.1857_1984del
c.2044_*5del
c.2084_*111del
c.400_*5del
c.943_*5del
c.169_*5del
n.5606_5733del
n.5647_5774del
 ClinVar dbSNP
17g.43045676_43045993delCA2499224338BRCA1c.5465-191_*2del
c.5468-191_*2del
c.5342-191_*2del
c.5462-191_*2del
c.5390-191_*2del
c.2156-191_*2del
c.2018-191_*2del
c.4580-191_*2del
c.5345-191_*2del
c.5534-191_*2del
c.5327-191_*2del
c.2030-191_*2del
n.1351-191_1477del
n.832-191_958del
c.5531-191_*2del
c.1855-191_1981del
c.2042-191_*2del
c.2082-191_*108del
c.398-191_*2del
c.941-191_*2del
c.167-191_*2del
n.5604-191_5730del
n.5645-191_5771del
 ClinVar dbSNP
17g.43045678_43047703delCA2581463416BRCA1c.5404_5589del
c.5407_5592del
c.5281_5466del
c.5401_5586del
c.5329_5514del
c.2095_2280del
c.1957_2142del
c.4519_4704del
c.5284_5469del
c.5473_5658del
c.5266_5451del
c.1969_2154del
n.1290_1475del
n.771_956del
c.5470_5655del
c.1794_1979del
c.1981_2166del
c.*5190_*5375del
c.2021_*106del
c.337_522del
c.880_1065del
c.106_291del
n.5543_5728del
n.5584_5769del
17g.43045678_43051117delCA2581463401BRCA1c.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
17g.43045700_43045713delinsTGGGGTATCAGGTACA2260761023BRCA1c.5554_5567delinsTACCTGATACCCCA (p.Tyr1852=)
c.5557_5570delinsTACCTGATACCCCA (p.Tyr1853=)
c.5431_5444delinsTACCTGATACCCCA (p.Tyr1811=)
c.5551_5564delinsTACCTGATACCCCA (p.Tyr1851=)
c.5479_5492delinsTACCTGATACCCCA (p.Tyr1827=)
c.2245_2258delinsTACCTGATACCCCA (p.Tyr749=)
c.2107_2120delinsTACCTGATACCCCA (p.Tyr703=)
c.4669_4682delinsTACCTGATACCCCA (p.Tyr1557=)
c.5434_5447delinsTACCTGATACCCCA (p.Tyr1812=)
c.5623_5636delinsTACCTGATACCCCA (p.Tyr1875=)
c.5416_5429delinsTACCTGATACCCCA (p.Tyr1806=)
c.2119_2132delinsTACCTGATACCCCA (p.Tyr707=)
n.1440_1453delinsTACCTGATACCCCA
n.921_934delinsTACCTGATACCCCA
c.5620_5633delinsTACCTGATACCCCA (p.Tyr1874=)
c.1944_1957delinsTACCTGATACCCCA
c.2131_2144delinsTACCTGATACCCCA (p.Tyr711=)
c.*5340_*5353delinsTACCTGATACCCCA (n.*5340_*5353delinsTACCTGATACCCCA)
c.*71_*84delinsTACCTGATACCCCA (n.*71_*84delinsTACCTGATACCCCA)
c.487_500delinsTACCTGATACCCCA (p.Tyr163=)
c.1030_1043delinsTACCTGATACCCCA (p.Tyr344=)
c.256_269delinsTACCTGATACCCCA (p.Tyr86=)
n.5693_5706delinsTACCTGATACCCCA
n.5734_5747delinsTACCTGATACCCCA
17g.43045703_43045715delCA1139665547BRCA1c.5554_5566del (p.Tyr1852ArgfsTer?)
c.5557_5569del (p.Tyr1853ArgfsTer?)
c.5431_5443del (p.Tyr1811ArgfsTer?)
c.5551_5563del (p.Tyr1851ArgfsTer?)
c.5479_5491del (p.Tyr1827ArgfsTer?)
c.2245_2257del (p.Tyr749ArgfsTer?)
c.2107_2119del (p.Tyr703ArgfsTer?)
c.4669_4681del (p.Tyr1557ArgfsTer?)
c.5434_5446del (p.Tyr1812ArgfsTer?)
c.5623_5635del (p.Tyr1875ArgfsTer?)
c.5416_5428del (p.Tyr1806ArgfsTer?)
c.2119_2131del (p.Tyr707ArgfsTer?)
n.1440_1452del
n.921_933del
c.5620_5632del (p.Tyr1874ArgfsTer?)
c.1944_1956del
c.2131_2143del (p.Tyr711ArgfsTer?)
c.*5340_*5352del (n.*5340_*5352del)
c.*71_*83del (n.*71_*83del)
c.487_499del (p.Tyr163ArgfsTer?)
c.1030_1042del (p.Tyr344ArgfsTer?)
c.256_268del (p.Tyr86ArgfsTer?)
n.5693_5705del
n.5734_5746del
 ClinVar dbSNP
17g.43045705_43045767delinsTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGCA2260761028BRCA1c.5500_5562delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1834=)
c.5503_5565delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1835=)
c.5377_5439delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1793=)
c.5497_5559delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1833=)
c.5425_5487delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1809=)
c.2191_2253delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg731=)
c.2053_2115delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg685=)
c.4615_4677delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1539=)
c.5380_5442delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1794=)
c.5569_5631delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1857=)
c.5362_5424delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1788=)
c.2065_2127delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg689=)
n.1386_1448delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
n.867_929delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
c.5566_5628delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1856=)
c.1890_1952delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
c.2077_2139delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg693=)
c.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA)
c.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA)
c.433_495delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg145=)
c.976_1038delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg326=)
c.202_264delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg68=)
n.5639_5701delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
n.5680_5742delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
17g.43045706_43045767delCA003672BRCA1c.5500_5561del (p.Arg1834ThrfsTer24)
c.5503_5564del (p.Arg1835ThrfsTer24)
c.5377_5438del (p.Arg1793ThrfsTer24)
c.5497_5558del (p.Arg1833ThrfsTer24)
c.5425_5486del (p.Arg1809ThrfsTer24)
c.2191_2252del (p.Arg731ThrfsTer24)
c.2053_2114del (p.Arg685ThrfsTer24)
c.4615_4676del (p.Arg1539ThrfsTer24)
c.5380_5441del (p.Arg1794ThrfsTer24)
c.5569_5630del (p.Arg1857ThrfsTer24)
c.5362_5423del (p.Arg1788ThrfsTer24)
c.2065_2126del (p.Arg689ThrfsTer24)
n.1386_1447del
n.867_928del
c.5566_5627del (p.Arg1856ThrfsTer24)
c.1890_1951del
c.2077_2138del (p.Arg693ThrfsTer24)
c.*5286_*5347del (n.*5286_*5347del)
c.*17_*78del (n.*17_*78del)
c.2191_2252del (p.Arg731ThrfsTer?)
c.433_494del (p.Arg145ThrfsTer24)
c.976_1037del (p.Arg326ThrfsTer24)
c.202_263del (p.Arg68ThrfsTer24)
n.5639_5700del
n.5680_5741del
 ClinVar dbSNP
17g.43045709_43045714delinsAGGTAGCA2260761037BRCA1c.5553_5558delinsCTACCT (p.Thr1851=)
c.5556_5561delinsCTACCT (p.Thr1852=)
c.5430_5435delinsCTACCT (p.Thr1810=)
c.5550_5555delinsCTACCT (p.Thr1850=)
c.5478_5483delinsCTACCT (p.Thr1826=)
c.2244_2249delinsCTACCT (p.Thr748=)
c.2106_2111delinsCTACCT (p.Thr702=)
c.4668_4673delinsCTACCT (p.Thr1556=)
c.5433_5438delinsCTACCT (p.Thr1811=)
c.5622_5627delinsCTACCT (p.Thr1874=)
c.5415_5420delinsCTACCT (p.Thr1805=)
c.2118_2123delinsCTACCT (p.Thr706=)
n.1439_1444delinsCTACCT
n.920_925delinsCTACCT
c.5619_5624delinsCTACCT (p.Thr1873=)
c.1943_1948delinsCTACCT
c.2130_2135delinsCTACCT (p.Thr710=)
c.*5339_*5344delinsCTACCT (n.*5339_*5344delinsCTACCT)
c.*70_*75delinsCTACCT (n.*70_*75delinsCTACCT)
c.486_491delinsCTACCT (p.Thr162=)
c.1029_1034delinsCTACCT (p.Thr343=)
c.255_260delinsCTACCT (p.Thr85=)
n.5692_5697delinsCTACCT
n.5733_5738delinsCTACCT
17g.43045713_43045716dupCA2260761035BRCA1c.5555_5558dup (p.Ile1854ProfsTer26)
c.5558_5561dup (p.Ile1855ProfsTer26)
c.5432_5435dup (p.Ile1813ProfsTer26)
c.5552_5555dup (p.Ile1853ProfsTer26)
c.5480_5483dup (p.Ile1829ProfsTer26)
c.2246_2249dup (p.Ile751ProfsTer26)
c.2108_2111dup (p.Ile705ProfsTer26)
c.4670_4673dup (p.Ile1559ProfsTer26)
c.5435_5438dup (p.Ile1814ProfsTer26)
c.5624_5627dup (p.Ile1877ProfsTer26)
c.5417_5420dup (p.Ile1808ProfsTer26)
c.2120_2123dup (p.Ile709ProfsTer26)
n.1441_1444dup
n.922_925dup
c.5621_5624dup (p.Ile1876ProfsTer26)
c.1945_1948dup
c.2132_2135dup (p.Ile713ProfsTer26)
c.*5341_*5344dup (n.*5341_*5344dup)
c.*72_*75dup (n.*72_*75dup)
c.2246_2249dup (p.Ile751ProfsTer?)
c.488_491dup (p.Ile165ProfsTer26)
c.1031_1034dup (p.Ile346ProfsTer26)
c.257_260dup (p.Ile88ProfsTer26)
n.5694_5697dup
n.5735_5738dup
 ClinVar dbSNP
17g.43045711_43045715delCA10589579BRCA1c.5553_5557del (p.Tyr1852AspfsTer25)
c.5556_5560del (p.Tyr1853AspfsTer25)
c.5430_5434del (p.Tyr1811AspfsTer25)
c.5550_5554del (p.Tyr1851AspfsTer25)
c.5478_5482del (p.Tyr1827AspfsTer25)
c.2244_2248del (p.Tyr749AspfsTer25)
c.2106_2110del (p.Tyr703AspfsTer25)
c.4668_4672del (p.Tyr1557AspfsTer25)
c.5433_5437del (p.Tyr1812AspfsTer25)
c.5622_5626del (p.Tyr1875AspfsTer25)
c.5415_5419del (p.Tyr1806AspfsTer25)
c.2118_2122del (p.Tyr707AspfsTer25)
n.1439_1443del
n.920_924del
c.5619_5623del (p.Tyr1874AspfsTer25)
c.1943_1947del
c.2130_2134del (p.Tyr711AspfsTer25)
c.*5339_*5343del (n.*5339_*5343del)
c.*70_*74del (n.*70_*74del)
c.2244_2248del (p.Tyr749AspfsTer?)
c.486_490del (p.Tyr163AspfsTer25)
c.1029_1033del (p.Tyr344AspfsTer25)
c.255_259del (p.Tyr86AspfsTer25)
n.5692_5696del
n.5733_5737del
 ClinVar dbSNP
17g.43045711_43045717delCA2580612614BRCA1c.5551_5557del (p.Thr1851Ter)
c.5554_5560del (p.Thr1852Ter)
c.5428_5434del (p.Thr1810Ter)
c.5548_5554del (p.Thr1850Ter)
c.5476_5482del (p.Thr1826Ter)
c.2242_2248del (p.Thr748Ter)
c.2104_2110del (p.Thr702Ter)
c.4666_4672del (p.Thr1556Ter)
c.5431_5437del (p.Thr1811Ter)
c.5620_5626del (p.Thr1874Ter)
c.5413_5419del (p.Thr1805Ter)
c.2116_2122del (p.Thr706Ter)
n.1437_1443del
n.918_924del
c.5617_5623del (p.Thr1873Ter)
c.1941_1947del
c.2128_2134del (p.Thr710Ter)
c.*5337_*5343del (n.*5337_*5343del)
c.*68_*74del (n.*68_*74del)
c.484_490del (p.Thr162Ter)
c.1027_1033del (p.Thr343Ter)
c.253_259del (p.Thr85Ter)
n.5690_5696del
n.5731_5737del
 ClinVar
17g.43045711_43045716delinsGTAGGTCA2260761041BRCA1c.5551_5556delinsACCTAC (p.Thr1851=)
c.5554_5559delinsACCTAC (p.Thr1852=)
c.5428_5433delinsACCTAC (p.Thr1810=)
c.5548_5553delinsACCTAC (p.Thr1850=)
c.5476_5481delinsACCTAC (p.Thr1826=)
c.2242_2247delinsACCTAC (p.Thr748=)
c.2104_2109delinsACCTAC (p.Thr702=)
c.4666_4671delinsACCTAC (p.Thr1556=)
c.5431_5436delinsACCTAC (p.Thr1811=)
c.5620_5625delinsACCTAC (p.Thr1874=)
c.5413_5418delinsACCTAC (p.Thr1805=)
c.2116_2121delinsACCTAC (p.Thr706=)
n.1437_1442delinsACCTAC
n.918_923delinsACCTAC
c.5617_5622delinsACCTAC (p.Thr1873=)
c.1941_1946delinsACCTAC
c.2128_2133delinsACCTAC (p.Thr710=)
c.*5337_*5342delinsACCTAC (n.*5337_*5342delinsACCTAC)
c.*68_*73delinsACCTAC (n.*68_*73delinsACCTAC)
c.484_489delinsACCTAC (p.Thr162=)
c.1027_1032delinsACCTAC (p.Thr343=)
c.253_258delinsACCTAC (p.Thr85=)
n.5690_5695delinsACCTAC
n.5731_5736delinsACCTAC
17g.43045712_43045716delCA915950024BRCA1c.5551_5555del (p.Thr1851ProfsTer26)
c.5554_5558del (p.Thr1852ProfsTer26)
c.5428_5432del (p.Thr1810ProfsTer26)
c.5548_5552del (p.Thr1850ProfsTer26)
c.5476_5480del (p.Thr1826ProfsTer26)
c.2242_2246del (p.Thr748ProfsTer26)
c.2104_2108del (p.Thr702ProfsTer26)
c.4666_4670del (p.Thr1556ProfsTer26)
c.5431_5435del (p.Thr1811ProfsTer26)
c.5620_5624del (p.Thr1874ProfsTer26)
c.5413_5417del (p.Thr1805ProfsTer26)
c.2116_2120del (p.Thr706ProfsTer26)
n.1437_1441del
n.918_922del
c.5617_5621del (p.Thr1873ProfsTer26)
c.1941_1945del
c.2128_2132del (p.Thr710ProfsTer26)
c.*5337_*5341del (n.*5337_*5341del)
c.*68_*72del (n.*68_*72del)
c.2242_2246del (p.Thr748ProfsTer?)
c.484_488del (p.Thr162ProfsTer26)
c.1027_1031del (p.Thr343ProfsTer26)
c.253_257del (p.Thr85ProfsTer26)
n.5690_5694del
n.5731_5735del
 ClinVar dbSNP
17g.43045713delCA2580093792BRCA1c.5554del (p.Tyr1852ThrfsTer2)
c.5557del (p.Tyr1853ThrfsTer2)
c.5431del (p.Tyr1811ThrfsTer2)
c.5551del (p.Tyr1851ThrfsTer2)
c.5479del (p.Tyr1827ThrfsTer2)
c.2245del (p.Tyr749ThrfsTer2)
c.2107del (p.Tyr703ThrfsTer2)
c.4669del (p.Tyr1557ThrfsTer2)
c.5434del (p.Tyr1812ThrfsTer2)
c.5623del (p.Tyr1875ThrfsTer2)
c.5416del (p.Tyr1806ThrfsTer2)
c.2119del (p.Tyr707ThrfsTer2)
n.1440del
n.921del
c.5620del (p.Tyr1874ThrfsTer2)
c.1944del
c.2131del (p.Tyr711ThrfsTer2)
c.*5340del (n.*5340del)
c.*71del (n.*71del)
c.487del (p.Tyr163ThrfsTer2)
c.1030del (p.Tyr344ThrfsTer2)
c.256del (p.Tyr86ThrfsTer2)
n.5693del
n.5734del
 ClinVar
17g.43045713A=CA2260761044BRCA1c.5554T= (p.Tyr1852=)
c.5557T= (p.Tyr1853=)
c.5431T= (p.Tyr1811=)
c.5551T= (p.Tyr1851=)
c.5479T= (p.Tyr1827=)
c.2245T= (p.Tyr749=)
c.2107T= (p.Tyr703=)
c.4669T= (p.Tyr1557=)
c.5434T= (p.Tyr1812=)
c.5623T= (p.Tyr1875=)
c.5416T= (p.Tyr1806=)
c.2119T= (p.Tyr707=)
n.1440T=
n.921T=
c.5620T= (p.Tyr1874=)
c.1944T=
c.2131T= (p.Tyr711=)
c.*5340T= (n.*5340T=)
c.*71T= (n.*71T=)
c.487T= (p.Tyr163=)
c.1030T= (p.Tyr344=)
c.256T= (p.Tyr86=)
n.5693T=
n.5734T=
17g.43045713A>CCA10590207BRCA1c.5554T>G (p.Tyr1852Asp)
c.5557T>G (p.Tyr1853Asp)
c.5431T>G (p.Tyr1811Asp)
c.5551T>G (p.Tyr1851Asp)
c.5479T>G (p.Tyr1827Asp)
c.2245T>G (p.Tyr749Asp)
c.2107T>G (p.Tyr703Asp)
c.4669T>G (p.Tyr1557Asp)
c.5434T>G (p.Tyr1812Asp)
c.5623T>G (p.Tyr1875Asp)
c.5416T>G (p.Tyr1806Asp)
c.2119T>G (p.Tyr707Asp)
n.1440T>G
n.921T>G
c.5620T>G (p.Tyr1874Asp)
c.1944T>G
c.2131T>G (p.Tyr711Asp)
c.*5340T>G (n.*5340T>G)
c.*71T>G (n.*71T>G)
c.487T>G (p.Tyr163Asp)
c.1030T>G (p.Tyr344Asp)
c.256T>G (p.Tyr86Asp)
n.5693T>G
n.5734T>G
 ClinVar dbSNP
17g.43045713A>GCA10590208BRCA1c.5554T>C (p.Tyr1852His)
c.5557T>C (p.Tyr1853His)
c.5431T>C (p.Tyr1811His)
c.5551T>C (p.Tyr1851His)
c.5479T>C (p.Tyr1827His)
c.2245T>C (p.Tyr749His)
c.2107T>C (p.Tyr703His)
c.4669T>C (p.Tyr1557His)
c.5434T>C (p.Tyr1812His)
c.5623T>C (p.Tyr1875His)
c.5416T>C (p.Tyr1806His)
c.2119T>C (p.Tyr707His)
n.1440T>C
n.921T>C
c.5620T>C (p.Tyr1874His)
c.1944T>C
c.2131T>C (p.Tyr711His)
c.*5340T>C (n.*5340T>C)
c.*71T>C (n.*71T>C)
c.487T>C (p.Tyr163His)
c.1030T>C (p.Tyr344His)
c.256T>C (p.Tyr86His)
n.5693T>C
n.5734T>C
 ClinVar dbSNP
17g.43045713A>TCA10590209BRCA1c.5554T>A (p.Tyr1852Asn)
c.5557T>A (p.Tyr1853Asn)
c.5431T>A (p.Tyr1811Asn)
c.5551T>A (p.Tyr1851Asn)
c.5479T>A (p.Tyr1827Asn)
c.2245T>A (p.Tyr749Asn)
c.2107T>A (p.Tyr703Asn)
c.4669T>A (p.Tyr1557Asn)
c.5434T>A (p.Tyr1812Asn)
c.5623T>A (p.Tyr1875Asn)
c.5416T>A (p.Tyr1806Asn)
c.2119T>A (p.Tyr707Asn)
n.1440T>A
n.921T>A
c.5620T>A (p.Tyr1874Asn)
c.1944T>A
c.2131T>A (p.Tyr711Asn)
c.*5340T>A (n.*5340T>A)
c.*71T>A (n.*71T>A)
c.487T>A (p.Tyr163Asn)
c.1030T>A (p.Tyr344Asn)
c.256T>A (p.Tyr86Asn)
n.5693T>A
n.5734T>A
 ClinVar dbSNP
17g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACTCA2260761043BRCA1c.5534_5554delinsAGTGCCAGGAGCTGGACACCT (p.Gln1845=)
c.5537_5557delinsAGTGCCAGGAGCTGGACACCT (p.Gln1846=)
c.5411_5431delinsAGTGCCAGGAGCTGGACACCT (p.Gln1804=)
c.5531_5551delinsAGTGCCAGGAGCTGGACACCT (p.Gln1844=)
c.5459_5479delinsAGTGCCAGGAGCTGGACACCT (p.Gln1820=)
c.2225_2245delinsAGTGCCAGGAGCTGGACACCT (p.Gln742=)
c.2087_2107delinsAGTGCCAGGAGCTGGACACCT (p.Gln696=)
c.4649_4669delinsAGTGCCAGGAGCTGGACACCT (p.Gln1550=)
c.5414_5434delinsAGTGCCAGGAGCTGGACACCT (p.Gln1805=)
c.5603_5623delinsAGTGCCAGGAGCTGGACACCT (p.Gln1868=)
c.5396_5416delinsAGTGCCAGGAGCTGGACACCT (p.Gln1799=)
c.2099_2119delinsAGTGCCAGGAGCTGGACACCT (p.Gln700=)
n.1420_1440delinsAGTGCCAGGAGCTGGACACCT
n.901_921delinsAGTGCCAGGAGCTGGACACCT
c.5600_5620delinsAGTGCCAGGAGCTGGACACCT (p.Gln1867=)
c.1924_1944delinsAGTGCCAGGAGCTGGACACCT
c.2111_2131delinsAGTGCCAGGAGCTGGACACCT (p.Gln704=)
c.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT (n.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT)
c.*51_*71delinsAGTGCCAGGAGCTGGACACCT (n.*51_*71delinsAGTGCCAGGAGCTGGACACCT)
c.467_487delinsAGTGCCAGGAGCTGGACACCT (p.Gln156=)
c.1010_1030delinsAGTGCCAGGAGCTGGACACCT (p.Gln337=)
c.236_256delinsAGTGCCAGGAGCTGGACACCT (p.Gln79=)
n.5673_5693delinsAGTGCCAGGAGCTGGACACCT
n.5714_5734delinsAGTGCCAGGAGCTGGACACCT
17g.43045714G>ACA500142883BRCA1c.5553C>T (p.Thr1851=)
c.5556C>T (p.Thr1852=)
c.5430C>T (p.Thr1810=)
c.5550C>T (p.Thr1850=)
c.5478C>T (p.Thr1826=)
c.2244C>T (p.Thr748=)
c.2106C>T (p.Thr702=)
c.4668C>T (p.Thr1556=)
c.5433C>T (p.Thr1811=)
c.5622C>T (p.Thr1874=)
c.5415C>T (p.Thr1805=)
c.2118C>T (p.Thr706=)
n.1439C>T
n.920C>T
c.5619C>T (p.Thr1873=)
c.1943C>T
c.2130C>T (p.Thr710=)
c.*5339C>T (n.*5339C>T)
c.*70C>T (n.*70C>T)
c.486C>T (p.Thr162=)
c.1029C>T (p.Thr343=)
c.255C>T (p.Thr85=)
n.5692C>T
n.5733C>T
 ClinVar dbSNP
17g.43045714G>CCA003712BRCA1c.5553C>G (p.Thr1851=)
c.5556C>G (p.Thr1852=)
c.5430C>G (p.Thr1810=)
c.5550C>G (p.Thr1850=)
c.5478C>G (p.Thr1826=)
c.2244C>G (p.Thr748=)
c.2106C>G (p.Thr702=)
c.4668C>G (p.Thr1556=)
c.5433C>G (p.Thr1811=)
c.5622C>G (p.Thr1874=)
c.5415C>G (p.Thr1805=)
c.2118C>G (p.Thr706=)
n.1439C>G
n.920C>G
c.5619C>G (p.Thr1873=)
c.1943C>G
c.2130C>G (p.Thr710=)
c.*5339C>G (n.*5339C>G)
c.*70C>G (n.*70C>G)
c.486C>G (p.Thr162=)
c.1029C>G (p.Thr343=)
c.255C>G (p.Thr85=)
n.5692C>G
n.5733C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045714G=CA2260761045BRCA1c.5553C= (p.Thr1851=)
c.5556C= (p.Thr1852=)
c.5430C= (p.Thr1810=)
c.5550C= (p.Thr1850=)
c.5478C= (p.Thr1826=)
c.2244C= (p.Thr748=)
c.2106C= (p.Thr702=)
c.4668C= (p.Thr1556=)
c.5433C= (p.Thr1811=)
c.5622C= (p.Thr1874=)
c.5415C= (p.Thr1805=)
c.2118C= (p.Thr706=)
n.1439C=
n.920C=
c.5619C= (p.Thr1873=)
c.1943C=
c.2130C= (p.Thr710=)
c.*5339C= (n.*5339C=)
c.*70C= (n.*70C=)
c.486C= (p.Thr162=)
c.1029C= (p.Thr343=)
c.255C= (p.Thr85=)
n.5692C=
n.5733C=
17g.43045714G>TCA500142884BRCA1c.5553C>A (p.Thr1851=)
c.5556C>A (p.Thr1852=)
c.5430C>A (p.Thr1810=)
c.5550C>A (p.Thr1850=)
c.5478C>A (p.Thr1826=)
c.2244C>A (p.Thr748=)
c.2106C>A (p.Thr702=)
c.4668C>A (p.Thr1556=)
c.5433C>A (p.Thr1811=)
c.5622C>A (p.Thr1874=)
c.5415C>A (p.Thr1805=)
c.2118C>A (p.Thr706=)
n.1439C>A
n.920C>A
c.5619C>A (p.Thr1873=)
c.1943C>A
c.2130C>A (p.Thr710=)
c.*5339C>A (n.*5339C>A)
c.*70C>A (n.*70C>A)
c.486C>A (p.Thr162=)
c.1029C>A (p.Thr343=)
c.255C>A (p.Thr85=)
n.5692C>A
n.5733C>A
 ClinVar dbSNP
17g.43045714_43045716delinsGGTCA2260761046BRCA1c.5551_5553delinsACC (p.Thr1851=)
c.5554_5556delinsACC (p.Thr1852=)
c.5428_5430delinsACC (p.Thr1810=)
c.5548_5550delinsACC (p.Thr1850=)
c.5476_5478delinsACC (p.Thr1826=)
c.2242_2244delinsACC (p.Thr748=)
c.2104_2106delinsACC (p.Thr702=)
c.4666_4668delinsACC (p.Thr1556=)
c.5431_5433delinsACC (p.Thr1811=)
c.5620_5622delinsACC (p.Thr1874=)
c.5413_5415delinsACC (p.Thr1805=)
c.2116_2118delinsACC (p.Thr706=)
n.1437_1439delinsACC
n.918_920delinsACC
c.5617_5619delinsACC (p.Thr1873=)
c.1941_1943delinsACC
c.2128_2130delinsACC (p.Thr710=)
c.*5337_*5339delinsACC (n.*5337_*5339delinsACC)
c.*68_*70delinsACC (n.*68_*70delinsACC)
c.484_486delinsACC (p.Thr162=)
c.1027_1029delinsACC (p.Thr343=)
c.253_255delinsACC (p.Thr85=)
n.5690_5692delinsACC
n.5731_5733delinsACC
17g.43045717_43045736delCA10589581BRCA1c.5534_5553del (p.Gln1845LeufsTer27)
c.5537_5556del (p.Gln1846LeufsTer27)
c.5411_5430del (p.Gln1804LeufsTer27)
c.5531_5550del (p.Gln1844LeufsTer27)
c.5459_5478del (p.Gln1820LeufsTer27)
c.2225_2244del (p.Gln742LeufsTer27)
c.2087_2106del (p.Gln696LeufsTer27)
c.4649_4668del (p.Gln1550LeufsTer27)
c.5414_5433del (p.Gln1805LeufsTer27)
c.5603_5622del (p.Gln1868LeufsTer27)
c.5396_5415del (p.Gln1799LeufsTer27)
c.2099_2118del (p.Gln700LeufsTer27)
n.1420_1439del
n.901_920del
c.5600_5619del (p.Gln1867LeufsTer27)
c.1924_1943del
c.2111_2130del (p.Gln704LeufsTer27)
c.*5320_*5339del (n.*5320_*5339del)
c.*51_*70del (n.*51_*70del)
c.2225_2244del (p.Gln742LeufsTer?)
c.467_486del (p.Gln156LeufsTer27)
c.1010_1029del (p.Gln337LeufsTer27)
c.236_255del (p.Gln79LeufsTer27)
n.5673_5692del
n.5714_5733del
 ClinVar dbSNP
17g.43045715G>ACA003711BRCA1c.5552C>T (p.Thr1851Ile)
c.5555C>T (p.Thr1852Ile)
c.5429C>T (p.Thr1810Ile)
c.5549C>T (p.Thr1850Ile)
c.5477C>T (p.Thr1826Ile)
c.2243C>T (p.Thr748Ile)
c.2105C>T (p.Thr702Ile)
c.4667C>T (p.Thr1556Ile)
c.5432C>T (p.Thr1811Ile)
c.5621C>T (p.Thr1874Ile)
c.5414C>T (p.Thr1805Ile)
c.2117C>T (p.Thr706Ile)
n.1438C>T
n.919C>T
c.5618C>T (p.Thr1873Ile)
c.1942C>T
c.2129C>T (p.Thr710Ile)
c.*5338C>T (n.*5338C>T)
c.*69C>T (n.*69C>T)
c.485C>T (p.Thr162Ile)
c.1028C>T (p.Thr343Ile)
c.254C>T (p.Thr85Ile)
n.5691C>T
n.5732C>T
 ClinVar dbSNP
17g.43045715G>CCA10590210BRCA1c.5552C>G (p.Thr1851Ser)
c.5555C>G (p.Thr1852Ser)
c.5429C>G (p.Thr1810Ser)
c.5549C>G (p.Thr1850Ser)
c.5477C>G (p.Thr1826Ser)
c.2243C>G (p.Thr748Ser)
c.2105C>G (p.Thr702Ser)
c.4667C>G (p.Thr1556Ser)
c.5432C>G (p.Thr1811Ser)
c.5621C>G (p.Thr1874Ser)
c.5414C>G (p.Thr1805Ser)
c.2117C>G (p.Thr706Ser)
n.1438C>G
n.919C>G
c.5618C>G (p.Thr1873Ser)
c.1942C>G
c.2129C>G (p.Thr710Ser)
c.*5338C>G (n.*5338C>G)
c.*69C>G (n.*69C>G)
c.485C>G (p.Thr162Ser)
c.1028C>G (p.Thr343Ser)
c.254C>G (p.Thr85Ser)
n.5691C>G
n.5732C>G
 ClinVar dbSNP
17g.43045715G=CA2260761047BRCA1c.5552C= (p.Thr1851=)
c.5555C= (p.Thr1852=)
c.5429C= (p.Thr1810=)
c.5549C= (p.Thr1850=)
c.5477C= (p.Thr1826=)
c.2243C= (p.Thr748=)
c.2105C= (p.Thr702=)
c.4667C= (p.Thr1556=)
c.5432C= (p.Thr1811=)
c.5621C= (p.Thr1874=)
c.5414C= (p.Thr1805=)
c.2117C= (p.Thr706=)
n.1438C=
n.919C=
c.5618C= (p.Thr1873=)
c.1942C=
c.2129C= (p.Thr710=)
c.*5338C= (n.*5338C=)
c.*69C= (n.*69C=)
c.485C= (p.Thr162=)
c.1028C= (p.Thr343=)
c.254C= (p.Thr85=)
n.5691C=
n.5732C=
17g.43045715G>TCA10590211BRCA1c.5552C>A (p.Thr1851Asn)
c.5555C>A (p.Thr1852Asn)
c.5429C>A (p.Thr1810Asn)
c.5549C>A (p.Thr1850Asn)
c.5477C>A (p.Thr1826Asn)
c.2243C>A (p.Thr748Asn)
c.2105C>A (p.Thr702Asn)
c.4667C>A (p.Thr1556Asn)
c.5432C>A (p.Thr1811Asn)
c.5621C>A (p.Thr1874Asn)
c.5414C>A (p.Thr1805Asn)
c.2117C>A (p.Thr706Asn)
n.1438C>A
n.919C>A
c.5618C>A (p.Thr1873Asn)
c.1942C>A
c.2129C>A (p.Thr710Asn)
c.*5338C>A (n.*5338C>A)
c.*69C>A (n.*69C>A)
c.485C>A (p.Thr162Asn)
c.1028C>A (p.Thr343Asn)
c.254C>A (p.Thr85Asn)
n.5691C>A
n.5732C>A
 ClinVar dbSNP
17g.43045717_43045718delCA916080701BRCA1c.5551_5552del (p.Thr1851LeufsTer27)
c.5554_5555del (p.Thr1852LeufsTer27)
c.5428_5429del (p.Thr1810LeufsTer27)
c.5548_5549del (p.Thr1850LeufsTer27)
c.5476_5477del (p.Thr1826LeufsTer27)
c.2242_2243del (p.Thr748LeufsTer27)
c.2104_2105del (p.Thr702LeufsTer27)
c.4666_4667del (p.Thr1556LeufsTer27)
c.5431_5432del (p.Thr1811LeufsTer27)
c.5620_5621del (p.Thr1874LeufsTer27)
c.5413_5414del (p.Thr1805LeufsTer27)
c.2116_2117del (p.Thr706LeufsTer27)
n.1437_1438del
n.918_919del
c.5617_5618del (p.Thr1873LeufsTer27)
c.1941_1942del
c.2128_2129del (p.Thr710LeufsTer27)
c.*5337_*5338del (n.*5337_*5338del)
c.*68_*69del (n.*68_*69del)
c.2242_2243del (p.Thr748LeufsTer?)
c.484_485del (p.Thr162LeufsTer27)
c.1027_1028del (p.Thr343LeufsTer27)
c.253_254del (p.Thr85LeufsTer27)
n.5690_5691del
n.5731_5732del
 ClinVar dbSNP
17g.43045716T>ACA501170BRCA1c.5551A>T (p.Thr1851Ser)
c.5554A>T (p.Thr1852Ser)
c.5428A>T (p.Thr1810Ser)
c.5548A>T (p.Thr1850Ser)
c.5476A>T (p.Thr1826Ser)
c.2242A>T (p.Thr748Ser)
c.2104A>T (p.Thr702Ser)
c.4666A>T (p.Thr1556Ser)
c.5431A>T (p.Thr1811Ser)
c.5620A>T (p.Thr1874Ser)
c.5413A>T (p.Thr1805Ser)
c.2116A>T (p.Thr706Ser)
n.1437A>T
n.918A>T
c.5617A>T (p.Thr1873Ser)
c.1941A>T
c.2128A>T (p.Thr710Ser)
c.*5337A>T (n.*5337A>T)
c.*68A>T (n.*68A>T)
c.484A>T (p.Thr162Ser)
c.1027A>T (p.Thr343Ser)
c.253A>T (p.Thr85Ser)
n.5690A>T
n.5731A>T
 ClinVar dbSNP
17g.43045716T>CCA10590212BRCA1c.5551A>G (p.Thr1851Ala)
c.5554A>G (p.Thr1852Ala)
c.5428A>G (p.Thr1810Ala)
c.5548A>G (p.Thr1850Ala)
c.5476A>G (p.Thr1826Ala)
c.2242A>G (p.Thr748Ala)
c.2104A>G (p.Thr702Ala)
c.4666A>G (p.Thr1556Ala)
c.5431A>G (p.Thr1811Ala)
c.5620A>G (p.Thr1874Ala)
c.5413A>G (p.Thr1805Ala)
c.2116A>G (p.Thr706Ala)
n.1437A>G
n.918A>G
c.5617A>G (p.Thr1873Ala)
c.1941A>G
c.2128A>G (p.Thr710Ala)
c.*5337A>G (n.*5337A>G)
c.*68A>G (n.*68A>G)
c.484A>G (p.Thr162Ala)
c.1027A>G (p.Thr343Ala)
c.253A>G (p.Thr85Ala)
n.5690A>G
n.5731A>G
 ClinVar dbSNP gnomAD v4
17g.43045716T>GCA10590213BRCA1c.5551A>C (p.Thr1851Pro)
c.5554A>C (p.Thr1852Pro)
c.5428A>C (p.Thr1810Pro)
c.5548A>C (p.Thr1850Pro)
c.5476A>C (p.Thr1826Pro)
c.2242A>C (p.Thr748Pro)
c.2104A>C (p.Thr702Pro)
c.4666A>C (p.Thr1556Pro)
c.5431A>C (p.Thr1811Pro)
c.5620A>C (p.Thr1874Pro)
c.5413A>C (p.Thr1805Pro)
c.2116A>C (p.Thr706Pro)
n.1437A>C
n.918A>C
c.5617A>C (p.Thr1873Pro)
c.1941A>C
c.2128A>C (p.Thr710Pro)
c.*5337A>C (n.*5337A>C)
c.*68A>C (n.*68A>C)
c.484A>C (p.Thr162Pro)
c.1027A>C (p.Thr343Pro)
c.253A>C (p.Thr85Pro)
n.5690A>C
n.5731A>C
 ClinVar dbSNP
17g.43045716T=CA2260761048BRCA1c.5551A= (p.Thr1851=)
c.5554A= (p.Thr1852=)
c.5428A= (p.Thr1810=)
c.5548A= (p.Thr1850=)
c.5476A= (p.Thr1826=)
c.2242A= (p.Thr748=)
c.2104A= (p.Thr702=)
c.4666A= (p.Thr1556=)
c.5431A= (p.Thr1811=)
c.5620A= (p.Thr1874=)
c.5413A= (p.Thr1805=)
c.2116A= (p.Thr706=)
n.1437A=
n.918A=
c.5617A= (p.Thr1873=)
c.1941A=
c.2128A= (p.Thr710=)
c.*5337A= (n.*5337A=)
c.*68A= (n.*68A=)
c.484A= (p.Thr162=)
c.1027A= (p.Thr343=)
c.253A= (p.Thr85=)
n.5690A=
n.5731A=
17g.43045717G>ACA500142885BRCA1c.5550C>T (p.Asp1850=)
c.5553C>T (p.Asp1851=)
c.5427C>T (p.Asp1809=)
c.5547C>T (p.Asp1849=)
c.5475C>T (p.Asp1825=)
c.2241C>T (p.Asp747=)
c.2103C>T (p.Asp701=)
c.4665C>T (p.Asp1555=)
c.5430C>T (p.Asp1810=)
c.5619C>T (p.Asp1873=)
c.5412C>T (p.Asp1804=)
c.2115C>T (p.Asp705=)
n.1436C>T
n.917C>T
c.5616C>T (p.Asp1872=)
c.1940C>T
c.2127C>T (p.Asp709=)
c.*5336C>T (n.*5336C>T)
c.*67C>T (n.*67C>T)
c.483C>T (p.Asp161=)
c.1026C>T (p.Asp342=)
c.252C>T (p.Asp84=)
n.5689C>T
n.5730C>T
 ClinVar dbSNP
17g.43045717G>CCA10590214BRCA1c.5550C>G (p.Asp1850Glu)
c.5553C>G (p.Asp1851Glu)
c.5427C>G (p.Asp1809Glu)
c.5547C>G (p.Asp1849Glu)
c.5475C>G (p.Asp1825Glu)
c.2241C>G (p.Asp747Glu)
c.2103C>G (p.Asp701Glu)
c.4665C>G (p.Asp1555Glu)
c.5430C>G (p.Asp1810Glu)
c.5619C>G (p.Asp1873Glu)
c.5412C>G (p.Asp1804Glu)
c.2115C>G (p.Asp705Glu)
n.1436C>G
n.917C>G
c.5616C>G (p.Asp1872Glu)
c.1940C>G
c.2127C>G (p.Asp709Glu)
c.*5336C>G (n.*5336C>G)
c.*67C>G (n.*67C>G)
c.483C>G (p.Asp161Glu)
c.1026C>G (p.Asp342Glu)
c.252C>G (p.Asp84Glu)
n.5689C>G
n.5730C>G
 ClinVar dbSNP
17g.43045717G=CA2260761049BRCA1c.5550C= (p.Asp1850=)
c.5553C= (p.Asp1851=)
c.5427C= (p.Asp1809=)
c.5547C= (p.Asp1849=)
c.5475C= (p.Asp1825=)
c.2241C= (p.Asp747=)
c.2103C= (p.Asp701=)
c.4665C= (p.Asp1555=)
c.5430C= (p.Asp1810=)
c.5619C= (p.Asp1873=)
c.5412C= (p.Asp1804=)
c.2115C= (p.Asp705=)
n.1436C=
n.917C=
c.5616C= (p.Asp1872=)
c.1940C=
c.2127C= (p.Asp709=)
c.*5336C= (n.*5336C=)
c.*67C= (n.*67C=)
c.483C= (p.Asp161=)
c.1026C= (p.Asp342=)
c.252C= (p.Asp84=)
n.5689C=
n.5730C=
17g.43045717G>TCA003710BRCA1c.5550C>A (p.Asp1850Glu)
c.5553C>A (p.Asp1851Glu)
c.5427C>A (p.Asp1809Glu)
c.5547C>A (p.Asp1849Glu)
c.5475C>A (p.Asp1825Glu)
c.2241C>A (p.Asp747Glu)
c.2103C>A (p.Asp701Glu)
c.4665C>A (p.Asp1555Glu)
c.5430C>A (p.Asp1810Glu)
c.5619C>A (p.Asp1873Glu)
c.5412C>A (p.Asp1804Glu)
c.2115C>A (p.Asp705Glu)
n.1436C>A
n.917C>A
c.5616C>A (p.Asp1872Glu)
c.1940C>A
c.2127C>A (p.Asp709Glu)
c.*5336C>A (n.*5336C>A)
c.*67C>A (n.*67C>A)
c.483C>A (p.Asp161Glu)
c.1026C>A (p.Asp342Glu)
c.252C>A (p.Asp84Glu)
n.5689C>A
n.5730C>A
 ClinVar dbSNP
17g.43045717dupCA328027BRCA1c.5550dup (p.Thr1851HisfsTer28)
c.5553dup (p.Thr1852HisfsTer28)
c.5427dup (p.Thr1810HisfsTer28)
c.5547dup (p.Thr1850HisfsTer28)
c.5475dup (p.Thr1826HisfsTer28)
c.2241dup (p.Thr748HisfsTer28)
c.2103dup (p.Thr702HisfsTer28)
c.4665dup (p.Thr1556HisfsTer28)
c.5430dup (p.Thr1811HisfsTer28)
c.5619dup (p.Thr1874HisfsTer28)
c.5412dup (p.Thr1805HisfsTer28)
c.2115dup (p.Thr706HisfsTer28)
n.1436dup
n.917dup
c.5616dup (p.Thr1873HisfsTer28)
c.1940dup
c.2127dup (p.Thr710HisfsTer28)
c.*5336dup (n.*5336dup)
c.*67dup (n.*67dup)
c.2241dup (p.Thr748HisfsTer?)
c.483dup (p.Thr162HisfsTer28)
c.1026dup (p.Thr343HisfsTer28)
c.252dup (p.Thr85HisfsTer28)
n.5689dup
n.5730dup
 ClinVar dbSNP
17g.43045718T>ACA10590215BRCA1c.5549A>T (p.Asp1850Val)
c.5552A>T (p.Asp1851Val)
c.5426A>T (p.Asp1809Val)
c.5546A>T (p.Asp1849Val)
c.5474A>T (p.Asp1825Val)
c.2240A>T (p.Asp747Val)
c.2102A>T (p.Asp701Val)
c.4664A>T (p.Asp1555Val)
c.5429A>T (p.Asp1810Val)
c.5618A>T (p.Asp1873Val)
c.5411A>T (p.Asp1804Val)
c.2114A>T (p.Asp705Val)
n.1435A>T
n.916A>T
c.5615A>T (p.Asp1872Val)
c.1939A>T
c.2126A>T (p.Asp709Val)
c.*5335A>T (n.*5335A>T)
c.*66A>T (n.*66A>T)
c.482A>T (p.Asp161Val)
c.1025A>T (p.Asp342Val)
c.251A>T (p.Asp84Val)
n.5688A>T
n.5729A>T
 ClinVar dbSNP
17g.43045718T>CCA10590216BRCA1c.5549A>G (p.Asp1850Gly)
c.5552A>G (p.Asp1851Gly)
c.5426A>G (p.Asp1809Gly)
c.5546A>G (p.Asp1849Gly)
c.5474A>G (p.Asp1825Gly)
c.2240A>G (p.Asp747Gly)
c.2102A>G (p.Asp701Gly)
c.4664A>G (p.Asp1555Gly)
c.5429A>G (p.Asp1810Gly)
c.5618A>G (p.Asp1873Gly)
c.5411A>G (p.Asp1804Gly)
c.2114A>G (p.Asp705Gly)
n.1435A>G
n.916A>G
c.5615A>G (p.Asp1872Gly)
c.1939A>G
c.2126A>G (p.Asp709Gly)
c.*5335A>G (n.*5335A>G)
c.*66A>G (n.*66A>G)
c.482A>G (p.Asp161Gly)
c.1025A>G (p.Asp342Gly)
c.251A>G (p.Asp84Gly)
n.5688A>G
n.5729A>G
 ClinVar dbSNP
17g.43045718T>GCA10590217BRCA1c.5549A>C (p.Asp1850Ala)
c.5552A>C (p.Asp1851Ala)
c.5426A>C (p.Asp1809Ala)
c.5546A>C (p.Asp1849Ala)
c.5474A>C (p.Asp1825Ala)
c.2240A>C (p.Asp747Ala)
c.2102A>C (p.Asp701Ala)
c.4664A>C (p.Asp1555Ala)
c.5429A>C (p.Asp1810Ala)
c.5618A>C (p.Asp1873Ala)
c.5411A>C (p.Asp1804Ala)
c.2114A>C (p.Asp705Ala)
n.1435A>C
n.916A>C
c.5615A>C (p.Asp1872Ala)
c.1939A>C
c.2126A>C (p.Asp709Ala)
c.*5335A>C (n.*5335A>C)
c.*66A>C (n.*66A>C)
c.482A>C (p.Asp161Ala)
c.1025A>C (p.Asp342Ala)
c.251A>C (p.Asp84Ala)
n.5688A>C
n.5729A>C
 ClinVar dbSNP
17g.43045718T=CA2260761051BRCA1c.5549A= (p.Asp1850=)
c.5552A= (p.Asp1851=)
c.5426A= (p.Asp1809=)
c.5546A= (p.Asp1849=)
c.5474A= (p.Asp1825=)
c.2240A= (p.Asp747=)
c.2102A= (p.Asp701=)
c.4664A= (p.Asp1555=)
c.5429A= (p.Asp1810=)
c.5618A= (p.Asp1873=)
c.5411A= (p.Asp1804=)
c.2114A= (p.Asp705=)
n.1435A=
n.916A=
c.5615A= (p.Asp1872=)
c.1939A=
c.2126A= (p.Asp709=)
c.*5335A= (n.*5335A=)
c.*66A= (n.*66A=)
c.482A= (p.Asp161=)
c.1025A= (p.Asp342=)
c.251A= (p.Asp84=)
n.5688A=
n.5729A=
17g.43045718_43045719delinsTCCA2260761050BRCA1c.5548_5549delinsGA (p.Asp1850=)
c.5551_5552delinsGA (p.Asp1851=)
c.5425_5426delinsGA (p.Asp1809=)
c.5545_5546delinsGA (p.Asp1849=)
c.5473_5474delinsGA (p.Asp1825=)
c.2239_2240delinsGA (p.Asp747=)
c.2101_2102delinsGA (p.Asp701=)
c.4663_4664delinsGA (p.Asp1555=)
c.5428_5429delinsGA (p.Asp1810=)
c.5617_5618delinsGA (p.Asp1873=)
c.5410_5411delinsGA (p.Asp1804=)
c.2113_2114delinsGA (p.Asp705=)
n.1434_1435delinsGA
n.915_916delinsGA
c.5614_5615delinsGA (p.Asp1872=)
c.1938_1939delinsGA
c.2125_2126delinsGA (p.Asp709=)
c.*5334_*5335delinsGA (n.*5334_*5335delinsGA)
c.*65_*66delinsGA (n.*65_*66delinsGA)
c.481_482delinsGA (p.Asp161=)
c.1024_1025delinsGA (p.Asp342=)
c.250_251delinsGA (p.Asp84=)
n.5687_5688delinsGA
n.5728_5729delinsGA
17g.43045719C>ACA10590218BRCA1c.5548G>T (p.Asp1850Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5425G>T (p.Asp1809Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5473G>T (p.Asp1825Tyr)
c.2239G>T (p.Asp747Tyr)
c.2101G>T (p.Asp701Tyr)
c.4663G>T (p.Asp1555Tyr)
c.5428G>T (p.Asp1810Tyr)
c.5617G>T (p.Asp1873Tyr)
c.5410G>T (p.Asp1804Tyr)
c.2113G>T (p.Asp705Tyr)
n.1434G>T
n.915G>T
c.5614G>T (p.Asp1872Tyr)
c.1938G>T
c.2125G>T (p.Asp709Tyr)
c.*5334G>T (n.*5334G>T)
c.*65G>T (n.*65G>T)
c.481G>T (p.Asp161Tyr)
c.1024G>T (p.Asp342Tyr)
c.250G>T (p.Asp84Tyr)
n.5687G>T
n.5728G>T
 ClinVar dbSNP
17g.43045719C=CA2260761052BRCA1c.5548G= (p.Asp1850=)
c.5551G= (p.Asp1851=)
c.5425G= (p.Asp1809=)
c.5545G= (p.Asp1849=)
c.5473G= (p.Asp1825=)
c.2239G= (p.Asp747=)
c.2101G= (p.Asp701=)
c.4663G= (p.Asp1555=)
c.5428G= (p.Asp1810=)
c.5617G= (p.Asp1873=)
c.5410G= (p.Asp1804=)
c.2113G= (p.Asp705=)
n.1434G=
n.915G=
c.5614G= (p.Asp1872=)
c.1938G=
c.2125G= (p.Asp709=)
c.*5334G= (n.*5334G=)
c.*65G= (n.*65G=)
c.481G= (p.Asp161=)
c.1024G= (p.Asp342=)
c.250G= (p.Asp84=)
n.5687G=
n.5728G=
17g.43045719C>GCA10590219BRCA1c.5548G>C (p.Asp1850His)
c.5551G>C (p.Asp1851His)
c.5425G>C (p.Asp1809His)
c.5545G>C (p.Asp1849His)
c.5473G>C (p.Asp1825His)
c.2239G>C (p.Asp747His)
c.2101G>C (p.Asp701His)
c.4663G>C (p.Asp1555His)
c.5428G>C (p.Asp1810His)
c.5617G>C (p.Asp1873His)
c.5410G>C (p.Asp1804His)
c.2113G>C (p.Asp705His)
n.1434G>C
n.915G>C
c.5614G>C (p.Asp1872His)
c.1938G>C
c.2125G>C (p.Asp709His)
c.*5334G>C (n.*5334G>C)
c.*65G>C (n.*65G>C)
c.481G>C (p.Asp161His)
c.1024G>C (p.Asp342His)
c.250G>C (p.Asp84His)
n.5687G>C
n.5728G>C
 ClinVar dbSNP
17g.43045719C>TCA10590220BRCA1c.5548G>A (p.Asp1850Asn)
c.5551G>A (p.Asp1851Asn)
c.5425G>A (p.Asp1809Asn)
c.5545G>A (p.Asp1849Asn)
c.5473G>A (p.Asp1825Asn)
c.2239G>A (p.Asp747Asn)
c.2101G>A (p.Asp701Asn)
c.4663G>A (p.Asp1555Asn)
c.5428G>A (p.Asp1810Asn)
c.5617G>A (p.Asp1873Asn)
c.5410G>A (p.Asp1804Asn)
c.2113G>A (p.Asp705Asn)
n.1434G>A
n.915G>A
c.5614G>A (p.Asp1872Asn)
c.1938G>A
c.2125G>A (p.Asp709Asn)
c.*5334G>A (n.*5334G>A)
c.*65G>A (n.*65G>A)
c.481G>A (p.Asp161Asn)
c.1024G>A (p.Asp342Asn)
c.250G>A (p.Asp84Asn)
n.5687G>A
n.5728G>A
 ClinVar dbSNP
17g.43045720delCA10589582BRCA1c.5548del (p.Asp1850ThrfsTer4)
c.5551del (p.Asp1851ThrfsTer4)
c.5425del (p.Asp1809ThrfsTer4)
c.5545del (p.Asp1849ThrfsTer4)
c.5473del (p.Asp1825ThrfsTer4)
c.2239del (p.Asp747ThrfsTer4)
c.2101del (p.Asp701ThrfsTer4)
c.4663del (p.Asp1555ThrfsTer4)
c.5428del (p.Asp1810ThrfsTer4)
c.5617del (p.Asp1873ThrfsTer4)
c.5410del (p.Asp1804ThrfsTer4)
c.2113del (p.Asp705ThrfsTer4)
n.1434del
n.915del
c.5614del (p.Asp1872ThrfsTer4)
c.1938del
c.2125del (p.Asp709ThrfsTer4)
c.*5334del (n.*5334del)
c.*65del (n.*65del)
c.481del (p.Asp161ThrfsTer4)
c.1024del (p.Asp342ThrfsTer4)
c.250del (p.Asp84ThrfsTer4)
n.5687del
n.5728del
 ClinVar dbSNP
17g.43045720C>ACA500142886BRCA1c.5547G>T (p.Leu1849=)
c.5550G>T (p.Leu1850=)
c.5424G>T (p.Leu1808=)
c.5544G>T (p.Leu1848=)
c.5472G>T (p.Leu1824=)
c.2238G>T (p.Leu746=)
c.2100G>T (p.Leu700=)
c.4662G>T (p.Leu1554=)
c.5427G>T (p.Leu1809=)
c.5616G>T (p.Leu1872=)
c.5409G>T (p.Leu1803=)
c.2112G>T (p.Leu704=)
n.1433G>T
n.914G>T
c.5613G>T (p.Leu1871=)
c.1937G>T
c.2124G>T (p.Leu708=)
c.*5333G>T (n.*5333G>T)
c.*64G>T (n.*64G>T)
c.480G>T (p.Leu160=)
c.1023G>T (p.Leu341=)
c.249G>T (p.Leu83=)
n.5686G>T
n.5727G>T
 ClinVar dbSNP
17g.43045720C=CA2260761053BRCA1c.5547G= (p.Leu1849=)
c.5550G= (p.Leu1850=)
c.5424G= (p.Leu1808=)
c.5544G= (p.Leu1848=)
c.5472G= (p.Leu1824=)
c.2238G= (p.Leu746=)
c.2100G= (p.Leu700=)
c.4662G= (p.Leu1554=)
c.5427G= (p.Leu1809=)
c.5616G= (p.Leu1872=)
c.5409G= (p.Leu1803=)
c.2112G= (p.Leu704=)
n.1433G=
n.914G=
c.5613G= (p.Leu1871=)
c.1937G=
c.2124G= (p.Leu708=)
c.*5333G= (n.*5333G=)
c.*64G= (n.*64G=)
c.480G= (p.Leu160=)
c.1023G= (p.Leu341=)
c.249G= (p.Leu83=)
n.5686G=
n.5727G=
17g.43045720C>GCA003709BRCA1c.5547G>C (p.Leu1849=)
c.5550G>C (p.Leu1850=)
c.5424G>C (p.Leu1808=)
c.5544G>C (p.Leu1848=)
c.5472G>C (p.Leu1824=)
c.2238G>C (p.Leu746=)
c.2100G>C (p.Leu700=)
c.4662G>C (p.Leu1554=)
c.5427G>C (p.Leu1809=)
c.5616G>C (p.Leu1872=)
c.5409G>C (p.Leu1803=)
c.2112G>C (p.Leu704=)
n.1433G>C
n.914G>C
c.5613G>C (p.Leu1871=)
c.1937G>C
c.2124G>C (p.Leu708=)
c.*5333G>C (n.*5333G>C)
c.*64G>C (n.*64G>C)
c.480G>C (p.Leu160=)
c.1023G>C (p.Leu341=)
c.249G>C (p.Leu83=)
n.5686G>C
n.5727G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045720C>TCA16609840BRCA1c.5547G>A (p.Leu1849=)
c.5550G>A (p.Leu1850=)
c.5424G>A (p.Leu1808=)
c.5544G>A (p.Leu1848=)
c.5472G>A (p.Leu1824=)
c.2238G>A (p.Leu746=)
c.2100G>A (p.Leu700=)
c.4662G>A (p.Leu1554=)
c.5427G>A (p.Leu1809=)
c.5616G>A (p.Leu1872=)
c.5409G>A (p.Leu1803=)
c.2112G>A (p.Leu704=)
n.1433G>A
n.914G>A
c.5613G>A (p.Leu1871=)
c.1937G>A
c.2124G>A (p.Leu708=)
c.*5333G>A (n.*5333G>A)
c.*64G>A (n.*64G>A)
c.480G>A (p.Leu160=)
c.1023G>A (p.Leu341=)
c.249G>A (p.Leu83=)
n.5686G>A
n.5727G>A
 ClinVar dbSNP
17g.43045721A=CA2260761055BRCA1c.5546T= (p.Leu1849=)
c.5549T= (p.Leu1850=)
c.5423T= (p.Leu1808=)
c.5543T= (p.Leu1848=)
c.5471T= (p.Leu1824=)
c.2237T= (p.Leu746=)
c.2099T= (p.Leu700=)
c.4661T= (p.Leu1554=)
c.5426T= (p.Leu1809=)
c.5615T= (p.Leu1872=)
c.5408T= (p.Leu1803=)
c.2111T= (p.Leu704=)
n.1432T=
n.913T=
c.5612T= (p.Leu1871=)
c.1936T=
c.2123T= (p.Leu708=)
c.*5332T= (n.*5332T=)
c.*63T= (n.*63T=)
c.479T= (p.Leu160=)
c.1022T= (p.Leu341=)
c.248T= (p.Leu83=)
n.5685T=
n.5726T=
17g.43045721A>CCA10590221BRCA1c.5546T>G (p.Leu1849Arg)
c.5549T>G (p.Leu1850Arg)
c.5423T>G (p.Leu1808Arg)
c.5543T>G (p.Leu1848Arg)
c.5471T>G (p.Leu1824Arg)
c.2237T>G (p.Leu746Arg)
c.2099T>G (p.Leu700Arg)
c.4661T>G (p.Leu1554Arg)
c.5426T>G (p.Leu1809Arg)
c.5615T>G (p.Leu1872Arg)
c.5408T>G (p.Leu1803Arg)
c.2111T>G (p.Leu704Arg)
n.1432T>G
n.913T>G
c.5612T>G (p.Leu1871Arg)
c.1936T>G
c.2123T>G (p.Leu708Arg)
c.*5332T>G (n.*5332T>G)
c.*63T>G (n.*63T>G)
c.479T>G (p.Leu160Arg)
c.1022T>G (p.Leu341Arg)
c.248T>G (p.Leu83Arg)
n.5685T>G
n.5726T>G
 ClinVar dbSNP
17g.43045721A>GCA10590222BRCA1c.5546T>C (p.Leu1849Pro)
c.5549T>C (p.Leu1850Pro)
c.5423T>C (p.Leu1808Pro)
c.5543T>C (p.Leu1848Pro)
c.5471T>C (p.Leu1824Pro)
c.2237T>C (p.Leu746Pro)
c.2099T>C (p.Leu700Pro)
c.4661T>C (p.Leu1554Pro)
c.5426T>C (p.Leu1809Pro)
c.5615T>C (p.Leu1872Pro)
c.5408T>C (p.Leu1803Pro)
c.2111T>C (p.Leu704Pro)
n.1432T>C
n.913T>C
c.5612T>C (p.Leu1871Pro)
c.1936T>C
c.2123T>C (p.Leu708Pro)
c.*5332T>C (n.*5332T>C)
c.*63T>C (n.*63T>C)
c.479T>C (p.Leu160Pro)
c.1022T>C (p.Leu341Pro)
c.248T>C (p.Leu83Pro)
n.5685T>C
n.5726T>C
 ClinVar dbSNP
17g.43045721A>TCA10590223BRCA1c.5546T>A (p.Leu1849Gln)
c.5549T>A (p.Leu1850Gln)
c.5423T>A (p.Leu1808Gln)
c.5543T>A (p.Leu1848Gln)
c.5471T>A (p.Leu1824Gln)
c.2237T>A (p.Leu746Gln)
c.2099T>A (p.Leu700Gln)
c.4661T>A (p.Leu1554Gln)
c.5426T>A (p.Leu1809Gln)
c.5615T>A (p.Leu1872Gln)
c.5408T>A (p.Leu1803Gln)
c.2111T>A (p.Leu704Gln)
n.1432T>A
n.913T>A
c.5612T>A (p.Leu1871Gln)
c.1936T>A
c.2123T>A (p.Leu708Gln)
c.*5332T>A (n.*5332T>A)
c.*63T>A (n.*63T>A)
c.479T>A (p.Leu160Gln)
c.1022T>A (p.Leu341Gln)
c.248T>A (p.Leu83Gln)
n.5685T>A
n.5726T>A
 ClinVar dbSNP
17g.43045721_43045722delinsAGCA2260761054BRCA1c.5545_5546delinsCT (p.Leu1849=)
c.5548_5549delinsCT (p.Leu1850=)
c.5422_5423delinsCT (p.Leu1808=)
c.5542_5543delinsCT (p.Leu1848=)
c.5470_5471delinsCT (p.Leu1824=)
c.2236_2237delinsCT (p.Leu746=)
c.2098_2099delinsCT (p.Leu700=)
c.4660_4661delinsCT (p.Leu1554=)
c.5425_5426delinsCT (p.Leu1809=)
c.5614_5615delinsCT (p.Leu1872=)
c.5407_5408delinsCT (p.Leu1803=)
c.2110_2111delinsCT (p.Leu704=)
n.1431_1432delinsCT
n.912_913delinsCT
c.5611_5612delinsCT (p.Leu1871=)
c.1935_1936delinsCT
c.2122_2123delinsCT (p.Leu708=)
c.*5331_*5332delinsCT (n.*5331_*5332delinsCT)
c.*62_*63delinsCT (n.*62_*63delinsCT)
c.478_479delinsCT (p.Leu160=)
c.1021_1022delinsCT (p.Leu341=)
c.247_248delinsCT (p.Leu83=)
n.5684_5685delinsCT
n.5725_5726delinsCT
17g.43045722delCA003707BRCA1c.5545del (p.Leu1849TrpfsTer5)
c.5548del (p.Leu1850TrpfsTer5)
c.5422del (p.Leu1808TrpfsTer5)
c.5542del (p.Leu1848TrpfsTer5)
c.5470del (p.Leu1824TrpfsTer5)
c.2236del (p.Leu746TrpfsTer5)
c.2098del (p.Leu700TrpfsTer5)
c.4660del (p.Leu1554TrpfsTer5)
c.5425del (p.Leu1809TrpfsTer5)
c.5614del (p.Leu1872TrpfsTer5)
c.5407del (p.Leu1803TrpfsTer5)
c.2110del (p.Leu704TrpfsTer5)
n.1431del
n.912del
c.5611del (p.Leu1871TrpfsTer5)
c.1935del
c.2122del (p.Leu708TrpfsTer5)
c.*5331del (n.*5331del)
c.*62del (n.*62del)
c.478del (p.Leu160TrpfsTer5)
c.1021del (p.Leu341TrpfsTer5)
c.247del (p.Leu83TrpfsTer5)
n.5684del
n.5725del
 ClinVar dbSNP
17g.43045722G>ACA500142887BRCA1c.5545C>T (p.Leu1849=)
c.5548C>T (p.Leu1850=)
c.5422C>T (p.Leu1808=)
c.5542C>T (p.Leu1848=)
c.5470C>T (p.Leu1824=)
c.2236C>T (p.Leu746=)
c.2098C>T (p.Leu700=)
c.4660C>T (p.Leu1554=)
c.5425C>T (p.Leu1809=)
c.5614C>T (p.Leu1872=)
c.5407C>T (p.Leu1803=)
c.2110C>T (p.Leu704=)
n.1431C>T
n.912C>T
c.5611C>T (p.Leu1871=)
c.1935C>T
c.2122C>T (p.Leu708=)
c.*5331C>T (n.*5331C>T)
c.*62C>T (n.*62C>T)
c.478C>T (p.Leu160=)
c.1021C>T (p.Leu341=)
c.247C>T (p.Leu83=)
n.5684C>T
n.5725C>T
 ClinVar dbSNP
17g.43045722G>CCA10590224BRCA1c.5545C>G (p.Leu1849Val)
c.5548C>G (p.Leu1850Val)
c.5422C>G (p.Leu1808Val)
c.5542C>G (p.Leu1848Val)
c.5470C>G (p.Leu1824Val)
c.2236C>G (p.Leu746Val)
c.2098C>G (p.Leu700Val)
c.4660C>G (p.Leu1554Val)
c.5425C>G (p.Leu1809Val)
c.5614C>G (p.Leu1872Val)
c.5407C>G (p.Leu1803Val)
c.2110C>G (p.Leu704Val)
n.1431C>G
n.912C>G
c.5611C>G (p.Leu1871Val)
c.1935C>G
c.2122C>G (p.Leu708Val)
c.*5331C>G (n.*5331C>G)
c.*62C>G (n.*62C>G)
c.478C>G (p.Leu160Val)
c.1021C>G (p.Leu341Val)
c.247C>G (p.Leu83Val)
n.5684C>G
n.5725C>G
 ClinVar dbSNP
17g.43045722G=CA2260761056BRCA1c.5545C= (p.Leu1849=)
c.5548C= (p.Leu1850=)
c.5422C= (p.Leu1808=)
c.5542C= (p.Leu1848=)
c.5470C= (p.Leu1824=)
c.2236C= (p.Leu746=)
c.2098C= (p.Leu700=)
c.4660C= (p.Leu1554=)
c.5425C= (p.Leu1809=)
c.5614C= (p.Leu1872=)
c.5407C= (p.Leu1803=)
c.2110C= (p.Leu704=)
n.1431C=
n.912C=
c.5611C= (p.Leu1871=)
c.1935C=
c.2122C= (p.Leu708=)
c.*5331C= (n.*5331C=)
c.*62C= (n.*62C=)
c.478C= (p.Leu160=)
c.1021C= (p.Leu341=)
c.247C= (p.Leu83=)
n.5684C=
n.5725C=
17g.43045722G>TCA10590225BRCA1c.5545C>A (p.Leu1849Met)
c.5548C>A (p.Leu1850Met)
c.5422C>A (p.Leu1808Met)
c.5542C>A (p.Leu1848Met)
c.5470C>A (p.Leu1824Met)
c.2236C>A (p.Leu746Met)
c.2098C>A (p.Leu700Met)
c.4660C>A (p.Leu1554Met)
c.5425C>A (p.Leu1809Met)
c.5614C>A (p.Leu1872Met)
c.5407C>A (p.Leu1803Met)
c.2110C>A (p.Leu704Met)
n.1431C>A
n.912C>A
c.5611C>A (p.Leu1871Met)
c.1935C>A
c.2122C>A (p.Leu708Met)
c.*5331C>A (n.*5331C>A)
c.*62C>A (n.*62C>A)
c.478C>A (p.Leu160Met)
c.1021C>A (p.Leu341Met)
c.247C>A (p.Leu83Met)
n.5684C>A
n.5725C>A
 ClinVar dbSNP
17g.43045723C>ACA10590226BRCA1c.5544G>T (p.Glu1848Asp)
c.5547G>T (p.Glu1849Asp)
c.5421G>T (p.Glu1807Asp)
c.5541G>T (p.Glu1847Asp)
c.5469G>T (p.Glu1823Asp)
c.2235G>T (p.Glu745Asp)
c.2097G>T (p.Glu699Asp)
c.4659G>T (p.Glu1553Asp)
c.5424G>T (p.Glu1808Asp)
c.5613G>T (p.Glu1871Asp)
c.5406G>T (p.Glu1802Asp)
c.2109G>T (p.Glu703Asp)
n.1430G>T
n.911G>T
c.5610G>T (p.Glu1870Asp)
c.1934G>T
c.2121G>T (p.Glu707Asp)
c.*5330G>T (n.*5330G>T)
c.*61G>T (n.*61G>T)
c.477G>T (p.Glu159Asp)
c.1020G>T (p.Glu340Asp)
c.246G>T (p.Glu82Asp)
n.5683G>T
n.5724G>T
 ClinVar dbSNP gnomAD v4
17g.43045723C=CA2260761057BRCA1c.5544G= (p.Glu1848=)
c.5547G= (p.Glu1849=)
c.5421G= (p.Glu1807=)
c.5541G= (p.Glu1847=)
c.5469G= (p.Glu1823=)
c.2235G= (p.Glu745=)
c.2097G= (p.Glu699=)
c.4659G= (p.Glu1553=)
c.5424G= (p.Glu1808=)
c.5613G= (p.Glu1871=)
c.5406G= (p.Glu1802=)
c.2109G= (p.Glu703=)
n.1430G=
n.911G=
c.5610G= (p.Glu1870=)
c.1934G=
c.2121G= (p.Glu707=)
c.*5330G= (n.*5330G=)
c.*61G= (n.*61G=)
c.477G= (p.Glu159=)
c.1020G= (p.Glu340=)
c.246G= (p.Glu82=)
n.5683G=
n.5724G=
17g.43045723C>GCA10590227BRCA1c.5544G>C (p.Glu1848Asp)
c.5547G>C (p.Glu1849Asp)
c.5421G>C (p.Glu1807Asp)
c.5541G>C (p.Glu1847Asp)
c.5469G>C (p.Glu1823Asp)
c.2235G>C (p.Glu745Asp)
c.2097G>C (p.Glu699Asp)
c.4659G>C (p.Glu1553Asp)
c.5424G>C (p.Glu1808Asp)
c.5613G>C (p.Glu1871Asp)
c.5406G>C (p.Glu1802Asp)
c.2109G>C (p.Glu703Asp)
n.1430G>C
n.911G>C
c.5610G>C (p.Glu1870Asp)
c.1934G>C
c.2121G>C (p.Glu707Asp)
c.*5330G>C (n.*5330G>C)
c.*61G>C (n.*61G>C)
c.477G>C (p.Glu159Asp)
c.1020G>C (p.Glu340Asp)
c.246G>C (p.Glu82Asp)
n.5683G>C
n.5724G>C
 ClinVar dbSNP
17g.43045723C>TCA500142888BRCA1c.5544G>A (p.Glu1848=)
c.5547G>A (p.Glu1849=)
c.5421G>A (p.Glu1807=)
c.5541G>A (p.Glu1847=)
c.5469G>A (p.Glu1823=)
c.2235G>A (p.Glu745=)
c.2097G>A (p.Glu699=)
c.4659G>A (p.Glu1553=)
c.5424G>A (p.Glu1808=)
c.5613G>A (p.Glu1871=)
c.5406G>A (p.Glu1802=)
c.2109G>A (p.Glu703=)
n.1430G>A
n.911G>A
c.5610G>A (p.Glu1870=)
c.1934G>A
c.2121G>A (p.Glu707=)
c.*5330G>A (n.*5330G>A)
c.*61G>A (n.*61G>A)
c.477G>A (p.Glu159=)
c.1020G>A (p.Glu340=)
c.246G>A (p.Glu82=)
n.5683G>A
n.5724G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045724T>ACA10590228BRCA1c.5543A>T (p.Glu1848Val)
c.5546A>T (p.Glu1849Val)
c.5420A>T (p.Glu1807Val)
c.5540A>T (p.Glu1847Val)
c.5468A>T (p.Glu1823Val)
c.2234A>T (p.Glu745Val)
c.2096A>T (p.Glu699Val)
c.4658A>T (p.Glu1553Val)
c.5423A>T (p.Glu1808Val)
c.5612A>T (p.Glu1871Val)
c.5405A>T (p.Glu1802Val)
c.2108A>T (p.Glu703Val)
n.1429A>T
n.910A>T
c.5609A>T (p.Glu1870Val)
c.1933A>T
c.2120A>T (p.Glu707Val)
c.*5329A>T (n.*5329A>T)
c.*60A>T (n.*60A>T)
c.476A>T (p.Glu159Val)
c.1019A>T (p.Glu340Val)
c.245A>T (p.Glu82Val)
n.5682A>T
n.5723A>T
 ClinVar dbSNP
17g.43045724T>CCA10590229BRCA1c.5543A>G (p.Glu1848Gly)
c.5546A>G (p.Glu1849Gly)
c.5420A>G (p.Glu1807Gly)
c.5540A>G (p.Glu1847Gly)
c.5468A>G (p.Glu1823Gly)
c.2234A>G (p.Glu745Gly)
c.2096A>G (p.Glu699Gly)
c.4658A>G (p.Glu1553Gly)
c.5423A>G (p.Glu1808Gly)
c.5612A>G (p.Glu1871Gly)
c.5405A>G (p.Glu1802Gly)
c.2108A>G (p.Glu703Gly)
n.1429A>G
n.910A>G
c.5609A>G (p.Glu1870Gly)
c.1933A>G
c.2120A>G (p.Glu707Gly)
c.*5329A>G (n.*5329A>G)
c.*60A>G (n.*60A>G)
c.476A>G (p.Glu159Gly)
c.1019A>G (p.Glu340Gly)
c.245A>G (p.Glu82Gly)
n.5682A>G
n.5723A>G
 ClinVar dbSNP
17g.43045724T>GCA10590230BRCA1c.5543A>C (p.Glu1848Ala)
c.5546A>C (p.Glu1849Ala)
c.5420A>C (p.Glu1807Ala)
c.5540A>C (p.Glu1847Ala)
c.5468A>C (p.Glu1823Ala)
c.2234A>C (p.Glu745Ala)
c.2096A>C (p.Glu699Ala)
c.4658A>C (p.Glu1553Ala)
c.5423A>C (p.Glu1808Ala)
c.5612A>C (p.Glu1871Ala)
c.5405A>C (p.Glu1802Ala)
c.2108A>C (p.Glu703Ala)
n.1429A>C
n.910A>C
c.5609A>C (p.Glu1870Ala)
c.1933A>C
c.2120A>C (p.Glu707Ala)
c.*5329A>C (n.*5329A>C)
c.*60A>C (n.*60A>C)
c.476A>C (p.Glu159Ala)
c.1019A>C (p.Glu340Ala)
c.245A>C (p.Glu82Ala)
n.5682A>C
n.5723A>C
 ClinVar dbSNP
17g.43045724T=CA2260761059BRCA1c.5543A= (p.Glu1848=)
c.5546A= (p.Glu1849=)
c.5420A= (p.Glu1807=)
c.5540A= (p.Glu1847=)
c.5468A= (p.Glu1823=)
c.2234A= (p.Glu745=)
c.2096A= (p.Glu699=)
c.4658A= (p.Glu1553=)
c.5423A= (p.Glu1808=)
c.5612A= (p.Glu1871=)
c.5405A= (p.Glu1802=)
c.2108A= (p.Glu703=)
n.1429A=
n.910A=
c.5609A= (p.Glu1870=)
c.1933A=
c.2120A= (p.Glu707=)
c.*5329A= (n.*5329A=)
c.*60A= (n.*60A=)
c.476A= (p.Glu159=)
c.1019A= (p.Glu340=)
c.245A= (p.Glu82=)
n.5682A=
n.5723A=
17g.43045724_43045727delinsTCCTCA2260761058BRCA1c.5540_5543delinsAGGA (p.Gln1847=)
c.5543_5546delinsAGGA (p.Gln1848=)
c.5417_5420delinsAGGA (p.Gln1806=)
c.5537_5540delinsAGGA (p.Gln1846=)
c.5465_5468delinsAGGA (p.Gln1822=)
c.2231_2234delinsAGGA (p.Gln744=)
c.2093_2096delinsAGGA (p.Gln698=)
c.4655_4658delinsAGGA (p.Gln1552=)
c.5420_5423delinsAGGA (p.Gln1807=)
c.5609_5612delinsAGGA (p.Gln1870=)
c.5402_5405delinsAGGA (p.Gln1801=)
c.2105_2108delinsAGGA (p.Gln702=)
n.1426_1429delinsAGGA
n.907_910delinsAGGA
c.5606_5609delinsAGGA (p.Gln1869=)
c.1930_1933delinsAGGA
c.2117_2120delinsAGGA (p.Gln706=)
c.*5326_*5329delinsAGGA (n.*5326_*5329delinsAGGA)
c.*57_*60delinsAGGA (n.*57_*60delinsAGGA)
c.473_476delinsAGGA (p.Gln158=)
c.1016_1019delinsAGGA (p.Gln339=)
c.242_245delinsAGGA (p.Gln81=)
n.5679_5682delinsAGGA
n.5720_5723delinsAGGA
17g.43045725C>ACA10590231BRCA1c.5542G>T (p.Glu1848Ter)
c.5545G>T (p.Glu1849Ter)
c.5419G>T (p.Glu1807Ter)
c.5539G>T (p.Glu1847Ter)
c.5467G>T (p.Glu1823Ter)
c.2233G>T (p.Glu745Ter)
c.2095G>T (p.Glu699Ter)
c.4657G>T (p.Glu1553Ter)
c.5422G>T (p.Glu1808Ter)
c.5611G>T (p.Glu1871Ter)
c.5404G>T (p.Glu1802Ter)
c.2107G>T (p.Glu703Ter)
n.1428G>T
n.909G>T
c.5608G>T (p.Glu1870Ter)
c.1932G>T
c.2119G>T (p.Glu707Ter)
c.*5328G>T (n.*5328G>T)
c.*59G>T (n.*59G>T)
c.475G>T (p.Glu159Ter)
c.1018G>T (p.Glu340Ter)
c.244G>T (p.Glu82Ter)
n.5681G>T
n.5722G>T
 ClinVar dbSNP
17g.43045725C=CA2260761060BRCA1c.5542G= (p.Glu1848=)
c.5545G= (p.Glu1849=)
c.5419G= (p.Glu1807=)
c.5539G= (p.Glu1847=)
c.5467G= (p.Glu1823=)
c.2233G= (p.Glu745=)
c.2095G= (p.Glu699=)
c.4657G= (p.Glu1553=)
c.5422G= (p.Glu1808=)
c.5611G= (p.Glu1871=)
c.5404G= (p.Glu1802=)
c.2107G= (p.Glu703=)
n.1428G=
n.909G=
c.5608G= (p.Glu1870=)
c.1932G=
c.2119G= (p.Glu707=)
c.*5328G= (n.*5328G=)
c.*59G= (n.*59G=)
c.475G= (p.Glu159=)
c.1018G= (p.Glu340=)
c.244G= (p.Glu82=)
n.5681G=
n.5722G=
17g.43045725C>GCA10590232BRCA1c.5542G>C (p.Glu1848Gln)
c.5545G>C (p.Glu1849Gln)
c.5419G>C (p.Glu1807Gln)
c.5539G>C (p.Glu1847Gln)
c.5467G>C (p.Glu1823Gln)
c.2233G>C (p.Glu745Gln)
c.2095G>C (p.Glu699Gln)
c.4657G>C (p.Glu1553Gln)
c.5422G>C (p.Glu1808Gln)
c.5611G>C (p.Glu1871Gln)
c.5404G>C (p.Glu1802Gln)
c.2107G>C (p.Glu703Gln)
n.1428G>C
n.909G>C
c.5608G>C (p.Glu1870Gln)
c.1932G>C
c.2119G>C (p.Glu707Gln)
c.*5328G>C (n.*5328G>C)
c.*59G>C (n.*59G>C)
c.475G>C (p.Glu159Gln)
c.1018G>C (p.Glu340Gln)
c.244G>C (p.Glu82Gln)
n.5681G>C
n.5722G>C
 ClinVar dbSNP
17g.43045725C>TCA10590233BRCA1c.5542G>A (p.Glu1848Lys)
c.5545G>A (p.Glu1849Lys)
c.5419G>A (p.Glu1807Lys)
c.5539G>A (p.Glu1847Lys)
c.5467G>A (p.Glu1823Lys)
c.2233G>A (p.Glu745Lys)
c.2095G>A (p.Glu699Lys)
c.4657G>A (p.Glu1553Lys)
c.5422G>A (p.Glu1808Lys)
c.5611G>A (p.Glu1871Lys)
c.5404G>A (p.Glu1802Lys)
c.2107G>A (p.Glu703Lys)
n.1428G>A
n.909G>A
c.5608G>A (p.Glu1870Lys)
c.1932G>A
c.2119G>A (p.Glu707Lys)
c.*5328G>A (n.*5328G>A)
c.*59G>A (n.*59G>A)
c.475G>A (p.Glu159Lys)
c.1018G>A (p.Glu340Lys)
c.244G>A (p.Glu82Lys)
n.5681G>A
n.5722G>A
 ClinVar dbSNP
17g.43045726C>ACA10590234BRCA1c.5541G>T (p.Gln1847His)
c.5544G>T (p.Gln1848His)
c.5418G>T (p.Gln1806His)
c.5538G>T (p.Gln1846His)
c.5466G>T (p.Gln1822His)
c.2232G>T (p.Gln744His)
c.2094G>T (p.Gln698His)
c.4656G>T (p.Gln1552His)
c.5421G>T (p.Gln1807His)
c.5610G>T (p.Gln1870His)
c.5403G>T (p.Gln1801His)
c.2106G>T (p.Gln702His)
n.1427G>T
n.908G>T
c.5607G>T (p.Gln1869His)
c.1931G>T
c.2118G>T (p.Gln706His)
c.*5327G>T (n.*5327G>T)
c.*58G>T (n.*58G>T)
c.474G>T (p.Gln158His)
c.1017G>T (p.Gln339His)
c.243G>T (p.Gln81His)
n.5680G>T
n.5721G>T
 ClinVar dbSNP gnomAD v4
17g.43045726C=CA2260761061BRCA1c.5541G= (p.Gln1847=)
c.5544G= (p.Gln1848=)
c.5418G= (p.Gln1806=)
c.5538G= (p.Gln1846=)
c.5466G= (p.Gln1822=)
c.2232G= (p.Gln744=)
c.2094G= (p.Gln698=)
c.4656G= (p.Gln1552=)
c.5421G= (p.Gln1807=)
c.5610G= (p.Gln1870=)
c.5403G= (p.Gln1801=)
c.2106G= (p.Gln702=)
n.1427G=
n.908G=
c.5607G= (p.Gln1869=)
c.1931G=
c.2118G= (p.Gln706=)
c.*5327G= (n.*5327G=)
c.*58G= (n.*58G=)
c.474G= (p.Gln158=)
c.1017G= (p.Gln339=)
c.243G= (p.Gln81=)
n.5680G=
n.5721G=
17g.43045726C>GCA10590235BRCA1c.5541G>C (p.Gln1847His)
c.5544G>C (p.Gln1848His)
c.5418G>C (p.Gln1806His)
c.5538G>C (p.Gln1846His)
c.5466G>C (p.Gln1822His)
c.2232G>C (p.Gln744His)
c.2094G>C (p.Gln698His)
c.4656G>C (p.Gln1552His)
c.5421G>C (p.Gln1807His)
c.5610G>C (p.Gln1870His)
c.5403G>C (p.Gln1801His)
c.2106G>C (p.Gln702His)
n.1427G>C
n.908G>C
c.5607G>C (p.Gln1869His)
c.1931G>C
c.2118G>C (p.Gln706His)
c.*5327G>C (n.*5327G>C)
c.*58G>C (n.*58G>C)
c.474G>C (p.Gln158His)
c.1017G>C (p.Gln339His)
c.243G>C (p.Gln81His)
n.5680G>C
n.5721G>C
 ClinVar dbSNP
17g.43045726C>TCA500142889BRCA1c.5541G>A (p.Gln1847=)
c.5544G>A (p.Gln1848=)
c.5418G>A (p.Gln1806=)
c.5538G>A (p.Gln1846=)
c.5466G>A (p.Gln1822=)
c.2232G>A (p.Gln744=)
c.2094G>A (p.Gln698=)
c.4656G>A (p.Gln1552=)
c.5421G>A (p.Gln1807=)
c.5610G>A (p.Gln1870=)
c.5403G>A (p.Gln1801=)
c.2106G>A (p.Gln702=)
n.1427G>A
n.908G>A
c.5607G>A (p.Gln1869=)
c.1931G>A
c.2118G>A (p.Gln706=)
c.*5327G>A (n.*5327G>A)
c.*58G>A (n.*58G>A)
c.474G>A (p.Gln158=)
c.1017G>A (p.Gln339=)
c.243G>A (p.Gln81=)
n.5680G>A
n.5721G>A
 ClinVar dbSNP
17g.43045727T>ACA10590236BRCA1c.5540A>T (p.Gln1847Leu)
c.5543A>T (p.Gln1848Leu)
c.5417A>T (p.Gln1806Leu)
c.5537A>T (p.Gln1846Leu)
c.5465A>T (p.Gln1822Leu)
c.2231A>T (p.Gln744Leu)
c.2093A>T (p.Gln698Leu)
c.4655A>T (p.Gln1552Leu)
c.5420A>T (p.Gln1807Leu)
c.5609A>T (p.Gln1870Leu)
c.5402A>T (p.Gln1801Leu)
c.2105A>T (p.Gln702Leu)
n.1426A>T
n.907A>T
c.5606A>T (p.Gln1869Leu)
c.1930A>T
c.2117A>T (p.Gln706Leu)
c.*5326A>T (n.*5326A>T)
c.*57A>T (n.*57A>T)
c.473A>T (p.Gln158Leu)
c.1016A>T (p.Gln339Leu)
c.242A>T (p.Gln81Leu)
n.5679A>T
n.5720A>T
 ClinVar dbSNP
17g.43045727T>CCA10590237BRCA1c.5540A>G (p.Gln1847Arg)
c.5543A>G (p.Gln1848Arg)
c.5417A>G (p.Gln1806Arg)
c.5537A>G (p.Gln1846Arg)
c.5465A>G (p.Gln1822Arg)
c.2231A>G (p.Gln744Arg)
c.2093A>G (p.Gln698Arg)
c.4655A>G (p.Gln1552Arg)
c.5420A>G (p.Gln1807Arg)
c.5609A>G (p.Gln1870Arg)
c.5402A>G (p.Gln1801Arg)
c.2105A>G (p.Gln702Arg)
n.1426A>G
n.907A>G
c.5606A>G (p.Gln1869Arg)
c.1930A>G
c.2117A>G (p.Gln706Arg)
c.*5326A>G (n.*5326A>G)
c.*57A>G (n.*57A>G)
c.473A>G (p.Gln158Arg)
c.1016A>G (p.Gln339Arg)
c.242A>G (p.Gln81Arg)
n.5679A>G
n.5720A>G
 ClinVar dbSNP
17g.43045727T>GCA10590238BRCA1c.5540A>C (p.Gln1847Pro)
c.5543A>C (p.Gln1848Pro)
c.5417A>C (p.Gln1806Pro)
c.5537A>C (p.Gln1846Pro)
c.5465A>C (p.Gln1822Pro)
c.2231A>C (p.Gln744Pro)
c.2093A>C (p.Gln698Pro)
c.4655A>C (p.Gln1552Pro)
c.5420A>C (p.Gln1807Pro)
c.5609A>C (p.Gln1870Pro)
c.5402A>C (p.Gln1801Pro)
c.2105A>C (p.Gln702Pro)
n.1426A>C
n.907A>C
c.5606A>C (p.Gln1869Pro)
c.1930A>C
c.2117A>C (p.Gln706Pro)
c.*5326A>C (n.*5326A>C)
c.*57A>C (n.*57A>C)
c.473A>C (p.Gln158Pro)
c.1016A>C (p.Gln339Pro)
c.242A>C (p.Gln81Pro)
n.5679A>C
n.5720A>C
 ClinVar dbSNP
17g.43045727T=CA2260761062BRCA1c.5540A= (p.Gln1847=)
c.5543A= (p.Gln1848=)
c.5417A= (p.Gln1806=)
c.5537A= (p.Gln1846=)
c.5465A= (p.Gln1822=)
c.2231A= (p.Gln744=)
c.2093A= (p.Gln698=)
c.4655A= (p.Gln1552=)
c.5420A= (p.Gln1807=)
c.5609A= (p.Gln1870=)
c.5402A= (p.Gln1801=)
c.2105A= (p.Gln702=)
n.1426A=
n.907A=
c.5606A= (p.Gln1869=)
c.1930A=
c.2117A= (p.Gln706=)
c.*5326A= (n.*5326A=)
c.*57A= (n.*57A=)
c.473A= (p.Gln158=)
c.1016A= (p.Gln339=)
c.242A= (p.Gln81=)
n.5679A=
n.5720A=
17g.43045728G>ACA10589583BRCA1c.5539C>T (p.Gln1847Ter)
c.5542C>T (p.Gln1848Ter)
c.5416C>T (p.Gln1806Ter)
c.5536C>T (p.Gln1846Ter)
c.5464C>T (p.Gln1822Ter)
c.2230C>T (p.Gln744Ter)
c.2092C>T (p.Gln698Ter)
c.4654C>T (p.Gln1552Ter)
c.5419C>T (p.Gln1807Ter)
c.5608C>T (p.Gln1870Ter)
c.5401C>T (p.Gln1801Ter)
c.2104C>T (p.Gln702Ter)
n.1425C>T
n.906C>T
c.5605C>T (p.Gln1869Ter)
c.1929C>T
c.2116C>T (p.Gln706Ter)
c.*5325C>T (n.*5325C>T)
c.*56C>T (n.*56C>T)
c.472C>T (p.Gln158Ter)
c.1015C>T (p.Gln339Ter)
c.241C>T (p.Gln81Ter)
n.5678C>T
n.5719C>T
 ClinVar dbSNP
17g.43045728G>CCA10590239BRCA1c.5539C>G (p.Gln1847Glu)
c.5542C>G (p.Gln1848Glu)
c.5416C>G (p.Gln1806Glu)
c.5536C>G (p.Gln1846Glu)
c.5464C>G (p.Gln1822Glu)
c.2230C>G (p.Gln744Glu)
c.2092C>G (p.Gln698Glu)
c.4654C>G (p.Gln1552Glu)
c.5419C>G (p.Gln1807Glu)
c.5608C>G (p.Gln1870Glu)
c.5401C>G (p.Gln1801Glu)
c.2104C>G (p.Gln702Glu)
n.1425C>G
n.906C>G
c.5605C>G (p.Gln1869Glu)
c.1929C>G
c.2116C>G (p.Gln706Glu)
c.*5325C>G (n.*5325C>G)
c.*56C>G (n.*56C>G)
c.472C>G (p.Gln158Glu)
c.1015C>G (p.Gln339Glu)
c.241C>G (p.Gln81Glu)
n.5678C>G
n.5719C>G
 ClinVar dbSNP
17g.43045728G=CA2260761063BRCA1c.5539C= (p.Gln1847=)
c.5542C= (p.Gln1848=)
c.5416C= (p.Gln1806=)
c.5536C= (p.Gln1846=)
c.5464C= (p.Gln1822=)
c.2230C= (p.Gln744=)
c.2092C= (p.Gln698=)
c.4654C= (p.Gln1552=)
c.5419C= (p.Gln1807=)
c.5608C= (p.Gln1870=)
c.5401C= (p.Gln1801=)
c.2104C= (p.Gln702=)
n.1425C=
n.906C=
c.5605C= (p.Gln1869=)
c.1929C=
c.2116C= (p.Gln706=)
c.*5325C= (n.*5325C=)
c.*56C= (n.*56C=)
c.472C= (p.Gln158=)
c.1015C= (p.Gln339=)
c.241C= (p.Gln81=)
n.5678C=
n.5719C=
17g.43045728G>TCA10590240BRCA1c.5539C>A (p.Gln1847Lys)
c.5542C>A (p.Gln1848Lys)
c.5416C>A (p.Gln1806Lys)
c.5536C>A (p.Gln1846Lys)
c.5464C>A (p.Gln1822Lys)
c.2230C>A (p.Gln744Lys)
c.2092C>A (p.Gln698Lys)
c.4654C>A (p.Gln1552Lys)
c.5419C>A (p.Gln1807Lys)
c.5608C>A (p.Gln1870Lys)
c.5401C>A (p.Gln1801Lys)
c.2104C>A (p.Gln702Lys)
n.1425C>A
n.906C>A
c.5605C>A (p.Gln1869Lys)
c.1929C>A
c.2116C>A (p.Gln706Lys)
c.*5325C>A (n.*5325C>A)
c.*56C>A (n.*56C>A)
c.472C>A (p.Gln158Lys)
c.1015C>A (p.Gln339Lys)
c.241C>A (p.Gln81Lys)
n.5678C>A
n.5719C>A
 ClinVar dbSNP
17g.43045729dupCA2695226100BRCA1c.5539dup (p.Gln1847ProfsTer?)
c.5542dup (p.Gln1848ProfsTer?)
c.5416dup (p.Gln1806ProfsTer?)
c.5536dup (p.Gln1846ProfsTer?)
c.5464dup (p.Gln1822ProfsTer?)
c.2230dup (p.Gln744ProfsTer?)
c.2092dup (p.Gln698ProfsTer?)
c.4654dup (p.Gln1552ProfsTer?)
c.5419dup (p.Gln1807ProfsTer?)
c.5608dup (p.Gln1870ProfsTer?)
c.5401dup (p.Gln1801ProfsTer?)
c.2104dup (p.Gln702ProfsTer?)
n.1425dup
n.906dup
c.5605dup (p.Gln1869ProfsTer?)
c.1929dup
c.2116dup (p.Gln706ProfsTer?)
c.*5325dup (n.*5325dup)
c.*56dup (n.*56dup)
c.472dup (p.Gln158ProfsTer?)
c.1015dup (p.Gln339ProfsTer?)
c.241dup (p.Gln81ProfsTer?)
n.5678dup
n.5719dup
17g.43045729G>ACA16615743BRCA1c.5538C>T (p.Cys1846=)
c.5541C>T (p.Cys1847=)
c.5415C>T (p.Cys1805=)
c.5535C>T (p.Cys1845=)
c.5463C>T (p.Cys1821=)
c.2229C>T (p.Cys743=)
c.2091C>T (p.Cys697=)
c.4653C>T (p.Cys1551=)
c.5418C>T (p.Cys1806=)
c.5607C>T (p.Cys1869=)
c.5400C>T (p.Cys1800=)
c.2103C>T (p.Cys701=)
n.1424C>T
n.905C>T
c.5604C>T (p.Cys1868=)
c.1928C>T
c.2115C>T (p.Cys705=)
c.*5324C>T (n.*5324C>T)
c.*55C>T (n.*55C>T)
c.471C>T (p.Cys157=)
c.1014C>T (p.Cys338=)
c.240C>T (p.Cys80=)
n.5677C>T
n.5718C>T
 ClinVar dbSNP gnomAD v4
17g.43045729G>CCA055273BRCA1c.5538C>G (p.Cys1846Trp)
c.5541C>G (p.Cys1847Trp)
c.5415C>G (p.Cys1805Trp)
c.5535C>G (p.Cys1845Trp)
c.5463C>G (p.Cys1821Trp)
c.2229C>G (p.Cys743Trp)
c.2091C>G (p.Cys697Trp)
c.4653C>G (p.Cys1551Trp)
c.5418C>G (p.Cys1806Trp)
c.5607C>G (p.Cys1869Trp)
c.5400C>G (p.Cys1800Trp)
c.2103C>G (p.Cys701Trp)
n.1424C>G
n.905C>G
c.5604C>G (p.Cys1868Trp)
c.1928C>G
c.2115C>G (p.Cys705Trp)
c.*5324C>G (n.*5324C>G)
c.*55C>G (n.*55C>G)
c.471C>G (p.Cys157Trp)
c.1014C>G (p.Cys338Trp)
c.240C>G (p.Cys80Trp)
n.5677C>G
n.5718C>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43045729G=CA2260761064BRCA1c.5538C= (p.Cys1846=)
c.5541C= (p.Cys1847=)
c.5415C= (p.Cys1805=)
c.5535C= (p.Cys1845=)
c.5463C= (p.Cys1821=)
c.2229C= (p.Cys743=)
c.2091C= (p.Cys697=)
c.4653C= (p.Cys1551=)
c.5418C= (p.Cys1806=)
c.5607C= (p.Cys1869=)
c.5400C= (p.Cys1800=)
c.2103C= (p.Cys701=)
n.1424C=
n.905C=
c.5604C= (p.Cys1868=)
c.1928C=
c.2115C= (p.Cys705=)
c.*5324C= (n.*5324C=)
c.*55C= (n.*55C=)
c.471C= (p.Cys157=)
c.1014C= (p.Cys338=)
c.240C= (p.Cys80=)
n.5677C=
n.5718C=
17g.43045729G>TCA003706BRCA1c.5538C>A (p.Cys1846Ter)
c.5541C>A (p.Cys1847Ter)
c.5415C>A (p.Cys1805Ter)
c.5535C>A (p.Cys1845Ter)
c.5463C>A (p.Cys1821Ter)
c.2229C>A (p.Cys743Ter)
c.2091C>A (p.Cys697Ter)
c.4653C>A (p.Cys1551Ter)
c.5418C>A (p.Cys1806Ter)
c.5607C>A (p.Cys1869Ter)
c.5400C>A (p.Cys1800Ter)
c.2103C>A (p.Cys701Ter)
n.1424C>A
n.905C>A
c.5604C>A (p.Cys1868Ter)
c.1928C>A
c.2115C>A (p.Cys705Ter)
c.*5324C>A (n.*5324C>A)
c.*55C>A (n.*55C>A)
c.471C>A (p.Cys157Ter)
c.1014C>A (p.Cys338Ter)
c.240C>A (p.Cys80Ter)
n.5677C>A
n.5718C>A
 ClinVar dbSNP
17g.43045730C>ACA10590241BRCA1c.5537G>T (p.Cys1846Phe)
c.5540G>T (p.Cys1847Phe)
c.5414G>T (p.Cys1805Phe)
c.5534G>T (p.Cys1845Phe)
c.5462G>T (p.Cys1821Phe)
c.2228G>T (p.Cys743Phe)
c.2090G>T (p.Cys697Phe)
c.4652G>T (p.Cys1551Phe)
c.5417G>T (p.Cys1806Phe)
c.5606G>T (p.Cys1869Phe)
c.5399G>T (p.Cys1800Phe)
c.2102G>T (p.Cys701Phe)
n.1423G>T
n.904G>T
c.5603G>T (p.Cys1868Phe)
c.1927G>T
c.2114G>T (p.Cys705Phe)
c.*5323G>T (n.*5323G>T)
c.*54G>T (n.*54G>T)
c.470G>T (p.Cys157Phe)
c.1013G>T (p.Cys338Phe)
c.239G>T (p.Cys80Phe)
n.5676G>T
n.5717G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045730C=CA2260761065BRCA1c.5537G= (p.Cys1846=)
c.5540G= (p.Cys1847=)
c.5414G= (p.Cys1805=)
c.5534G= (p.Cys1845=)
c.5462G= (p.Cys1821=)
c.2228G= (p.Cys743=)
c.2090G= (p.Cys697=)
c.4652G= (p.Cys1551=)
c.5417G= (p.Cys1806=)
c.5606G= (p.Cys1869=)
c.5399G= (p.Cys1800=)
c.2102G= (p.Cys701=)
n.1423G=
n.904G=
c.5603G= (p.Cys1868=)
c.1927G=
c.2114G= (p.Cys705=)
c.*5323G= (n.*5323G=)
c.*54G= (n.*54G=)
c.470G= (p.Cys157=)
c.1013G= (p.Cys338=)
c.239G= (p.Cys80=)
n.5676G=
n.5717G=
17g.43045730C>GCA10590242BRCA1c.5537G>C (p.Cys1846Ser)
c.5540G>C (p.Cys1847Ser)
c.5414G>C (p.Cys1805Ser)
c.5534G>C (p.Cys1845Ser)
c.5462G>C (p.Cys1821Ser)
c.2228G>C (p.Cys743Ser)
c.2090G>C (p.Cys697Ser)
c.4652G>C (p.Cys1551Ser)
c.5417G>C (p.Cys1806Ser)
c.5606G>C (p.Cys1869Ser)
c.5399G>C (p.Cys1800Ser)
c.2102G>C (p.Cys701Ser)
n.1423G>C
n.904G>C
c.5603G>C (p.Cys1868Ser)
c.1927G>C
c.2114G>C (p.Cys705Ser)
c.*5323G>C (n.*5323G>C)
c.*54G>C (n.*54G>C)
c.470G>C (p.Cys157Ser)
c.1013G>C (p.Cys338Ser)
c.239G>C (p.Cys80Ser)
n.5676G>C
n.5717G>C
 ClinVar dbSNP
17g.43045730C>TCA10590243BRCA1c.5537G>A (p.Cys1846Tyr)
c.5540G>A (p.Cys1847Tyr)
c.5414G>A (p.Cys1805Tyr)
c.5534G>A (p.Cys1845Tyr)
c.5462G>A (p.Cys1821Tyr)
c.2228G>A (p.Cys743Tyr)
c.2090G>A (p.Cys697Tyr)
c.4652G>A (p.Cys1551Tyr)
c.5417G>A (p.Cys1806Tyr)
c.5606G>A (p.Cys1869Tyr)
c.5399G>A (p.Cys1800Tyr)
c.2102G>A (p.Cys701Tyr)
n.1423G>A
n.904G>A
c.5603G>A (p.Cys1868Tyr)
c.1927G>A
c.2114G>A (p.Cys705Tyr)
c.*5323G>A (n.*5323G>A)
c.*54G>A (n.*54G>A)
c.470G>A (p.Cys157Tyr)
c.1013G>A (p.Cys338Tyr)
c.239G>A (p.Cys80Tyr)
n.5676G>A
n.5717G>A
 ClinVar dbSNP gnomAD v4
17g.43045730_43045736delinsCACTGGTCA2260761066BRCA1c.5531_5537delinsACCAGTG (p.Tyr1844=)
c.5534_5540delinsACCAGTG (p.Tyr1845=)
c.5408_5414delinsACCAGTG (p.Tyr1803=)
c.5528_5534delinsACCAGTG (p.Tyr1843=)
c.5456_5462delinsACCAGTG (p.Tyr1819=)
c.2222_2228delinsACCAGTG (p.Tyr741=)
c.2084_2090delinsACCAGTG (p.Tyr695=)
c.4646_4652delinsACCAGTG (p.Tyr1549=)
c.5411_5417delinsACCAGTG (p.Tyr1804=)
c.5600_5606delinsACCAGTG (p.Tyr1867=)
c.5393_5399delinsACCAGTG (p.Tyr1798=)
c.2096_2102delinsACCAGTG (p.Tyr699=)
n.1417_1423delinsACCAGTG
n.898_904delinsACCAGTG
c.5597_5603delinsACCAGTG (p.Tyr1866=)
c.1921_1927delinsACCAGTG
c.2108_2114delinsACCAGTG (p.Tyr703=)
c.*5317_*5323delinsACCAGTG (n.*5317_*5323delinsACCAGTG)
c.*48_*54delinsACCAGTG (n.*48_*54delinsACCAGTG)
c.464_470delinsACCAGTG (p.Tyr155=)
c.1007_1013delinsACCAGTG (p.Tyr336=)
c.233_239delinsACCAGTG (p.Tyr78=)
n.5670_5676delinsACCAGTG
n.5711_5717delinsACCAGTG
17g.43045730_43045731insCAGTGCCAGGACAGCAGGCA914177697BRCA1c.5536_5537insCCTGCTGTCCTGGCACTG (p.Cys1846delinsSerCysCysProGlyThrGly)
c.5539_5540insCCTGCTGTCCTGGCACTG (p.Cys1847delinsSerCysCysProGlyThrGly)
c.5413_5414insCCTGCTGTCCTGGCACTG (p.Cys1805delinsSerCysCysProGlyThrGly)
c.5533_5534insCCTGCTGTCCTGGCACTG (p.Cys1845delinsSerCysCysProGlyThrGly)
c.5461_5462insCCTGCTGTCCTGGCACTG (p.Cys1821delinsSerCysCysProGlyThrGly)
c.2227_2228insCCTGCTGTCCTGGCACTG (p.Cys743delinsSerCysCysProGlyThrGly)
c.2089_2090insCCTGCTGTCCTGGCACTG (p.Cys697delinsSerCysCysProGlyThrGly)
c.4651_4652insCCTGCTGTCCTGGCACTG (p.Cys1551delinsSerCysCysProGlyThrGly)
c.5416_5417insCCTGCTGTCCTGGCACTG (p.Cys1806delinsSerCysCysProGlyThrGly)
c.5605_5606insCCTGCTGTCCTGGCACTG (p.Cys1869delinsSerCysCysProGlyThrGly)
c.5398_5399insCCTGCTGTCCTGGCACTG (p.Cys1800delinsSerCysCysProGlyThrGly)
c.2101_2102insCCTGCTGTCCTGGCACTG (p.Cys701delinsSerCysCysProGlyThrGly)
n.1422_1423insCCTGCTGTCCTGGCACTG
n.903_904insCCTGCTGTCCTGGCACTG
c.5602_5603insCCTGCTGTCCTGGCACTG (p.Cys1868delinsSerCysCysProGlyThrGly)
c.1926_1927insCCTGCTGTCCTGGCACTG
c.2113_2114insCCTGCTGTCCTGGCACTG (p.Cys705delinsSerCysCysProGlyThrGly)
c.*5322_*5323insCCTGCTGTCCTGGCACTG (n.*5322_*5323insCCTGCTGTCCTGGCACTG)
c.*53_*54insCCTGCTGTCCTGGCACTG (n.*53_*54insCCTGCTGTCCTGGCACTG)
c.469_470insCCTGCTGTCCTGGCACTG (p.Cys157delinsSerCysCysProGlyThrGly)
c.1012_1013insCCTGCTGTCCTGGCACTG (p.Cys338delinsSerCysCysProGlyThrGly)
c.238_239insCCTGCTGTCCTGGCACTG (p.Cys80delinsSerCysCysProGlyThrGly)
n.5675_5676insCCTGCTGTCCTGGCACTG
n.5716_5717insCCTGCTGTCCTGGCACTG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045731A=CA2260761067BRCA1c.5536T= (p.Cys1846=)
c.5539T= (p.Cys1847=)
c.5413T= (p.Cys1805=)
c.5533T= (p.Cys1845=)
c.5461T= (p.Cys1821=)
c.2227T= (p.Cys743=)
c.2089T= (p.Cys697=)
c.4651T= (p.Cys1551=)
c.5416T= (p.Cys1806=)
c.5605T= (p.Cys1869=)
c.5398T= (p.Cys1800=)
c.2101T= (p.Cys701=)
n.1422T=
n.903T=
c.5602T= (p.Cys1868=)
c.1926T=
c.2113T= (p.Cys705=)
c.*5322T= (n.*5322T=)
c.*53T= (n.*53T=)
c.469T= (p.Cys157=)
c.1012T= (p.Cys338=)
c.238T= (p.Cys80=)
n.5675T=
n.5716T=
17g.43045731A>CCA10590244BRCA1c.5536T>G (p.Cys1846Gly)
c.5539T>G (p.Cys1847Gly)
c.5413T>G (p.Cys1805Gly)
c.5533T>G (p.Cys1845Gly)
c.5461T>G (p.Cys1821Gly)
c.2227T>G (p.Cys743Gly)
c.2089T>G (p.Cys697Gly)
c.4651T>G (p.Cys1551Gly)
c.5416T>G (p.Cys1806Gly)
c.5605T>G (p.Cys1869Gly)
c.5398T>G (p.Cys1800Gly)
c.2101T>G (p.Cys701Gly)
n.1422T>G
n.903T>G
c.5602T>G (p.Cys1868Gly)
c.1926T>G
c.2113T>G (p.Cys705Gly)
c.*5322T>G (n.*5322T>G)
c.*53T>G (n.*53T>G)
c.469T>G (p.Cys157Gly)
c.1012T>G (p.Cys338Gly)
c.238T>G (p.Cys80Gly)
n.5675T>G
n.5716T>G
 ClinVar dbSNP
17g.43045731A>GCA10590245BRCA1c.5536T>C (p.Cys1846Arg)
c.5539T>C (p.Cys1847Arg)
c.5413T>C (p.Cys1805Arg)
c.5533T>C (p.Cys1845Arg)
c.5461T>C (p.Cys1821Arg)
c.2227T>C (p.Cys743Arg)
c.2089T>C (p.Cys697Arg)
c.4651T>C (p.Cys1551Arg)
c.5416T>C (p.Cys1806Arg)
c.5605T>C (p.Cys1869Arg)
c.5398T>C (p.Cys1800Arg)
c.2101T>C (p.Cys701Arg)
n.1422T>C
n.903T>C
c.5602T>C (p.Cys1868Arg)
c.1926T>C
c.2113T>C (p.Cys705Arg)
c.*5322T>C (n.*5322T>C)
c.*53T>C (n.*53T>C)
c.469T>C (p.Cys157Arg)
c.1012T>C (p.Cys338Arg)
c.238T>C (p.Cys80Arg)
n.5675T>C
n.5716T>C
 ClinVar dbSNP
17g.43045731A>TCA10590246BRCA1c.5536T>A (p.Cys1846Ser)
c.5539T>A (p.Cys1847Ser)
c.5413T>A (p.Cys1805Ser)
c.5533T>A (p.Cys1845Ser)
c.5461T>A (p.Cys1821Ser)
c.2227T>A (p.Cys743Ser)
c.2089T>A (p.Cys697Ser)
c.4651T>A (p.Cys1551Ser)
c.5416T>A (p.Cys1806Ser)
c.5605T>A (p.Cys1869Ser)
c.5398T>A (p.Cys1800Ser)
c.2101T>A (p.Cys701Ser)
n.1422T>A
n.903T>A
c.5602T>A (p.Cys1868Ser)
c.1926T>A
c.2113T>A (p.Cys705Ser)
c.*5322T>A (n.*5322T>A)
c.*53T>A (n.*53T>A)
c.469T>A (p.Cys157Ser)
c.1012T>A (p.Cys338Ser)
c.238T>A (p.Cys80Ser)
n.5675T>A
n.5716T>A
 ClinVar dbSNP
17g.43045731_43045736delinsCCTGCTGTCCTGGCACTGGCA1139665548BRCA1c.5531_5536delinsCCAGTGCCAGGACAGCAGG (p.Tyr1844SerfsTer?)
c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845SerfsTer?)
c.5408_5413delinsCCAGTGCCAGGACAGCAGG (p.Tyr1803SerfsTer?)
c.5528_5533delinsCCAGTGCCAGGACAGCAGG (p.Tyr1843SerfsTer?)
c.5456_5461delinsCCAGTGCCAGGACAGCAGG (p.Tyr1819SerfsTer?)
c.2222_2227delinsCCAGTGCCAGGACAGCAGG (p.Tyr741SerfsTer?)
c.2084_2089delinsCCAGTGCCAGGACAGCAGG (p.Tyr695SerfsTer?)
c.4646_4651delinsCCAGTGCCAGGACAGCAGG (p.Tyr1549SerfsTer?)
c.5411_5416delinsCCAGTGCCAGGACAGCAGG (p.Tyr1804SerfsTer?)
c.5600_5605delinsCCAGTGCCAGGACAGCAGG (p.Tyr1867SerfsTer?)
c.5393_5398delinsCCAGTGCCAGGACAGCAGG (p.Tyr1798SerfsTer?)
c.2096_2101delinsCCAGTGCCAGGACAGCAGG (p.Tyr699SerfsTer?)
n.1417_1422delinsCCAGTGCCAGGACAGCAGG
n.898_903delinsCCAGTGCCAGGACAGCAGG
c.5597_5602delinsCCAGTGCCAGGACAGCAGG (p.Tyr1866SerfsTer?)
c.1921_1926delinsCCAGTGCCAGGACAGCAGG
c.2108_2113delinsCCAGTGCCAGGACAGCAGG (p.Tyr703SerfsTer?)
c.*5317_*5322delinsCCAGTGCCAGGACAGCAGG (n.*5317_*5322delinsCCAGTGCCAGGACAGCAGG)
c.*48_*53delinsCCAGTGCCAGGACAGCAGG (n.*48_*53delinsCCAGTGCCAGGACAGCAGG)
c.464_469delinsCCAGTGCCAGGACAGCAGG (p.Tyr155SerfsTer?)
c.1007_1012delinsCCAGTGCCAGGACAGCAGG (p.Tyr336SerfsTer?)
c.233_238delinsCCAGTGCCAGGACAGCAGG (p.Tyr78SerfsTer?)
n.5670_5675delinsCCAGTGCCAGGACAGCAGG
n.5711_5716delinsCCAGTGCCAGGACAGCAGG
 ClinVar dbSNP
17g.43045732C>ACA10590247BRCA1c.5535G>T (p.Gln1845His)
c.5538G>T (p.Gln1846His)
c.5412G>T (p.Gln1804His)
c.5532G>T (p.Gln1844His)
c.5460G>T (p.Gln1820His)
c.2226G>T (p.Gln742His)
c.2088G>T (p.Gln696His)
c.4650G>T (p.Gln1550His)
c.5415G>T (p.Gln1805His)
c.5604G>T (p.Gln1868His)
c.5397G>T (p.Gln1799His)
c.2100G>T (p.Gln700His)
n.1421G>T
n.902G>T
c.5601G>T (p.Gln1867His)
c.1925G>T
c.2112G>T (p.Gln704His)
c.*5321G>T (n.*5321G>T)
c.*52G>T (n.*52G>T)
c.468G>T (p.Gln156His)
c.1011G>T (p.Gln337His)
c.237G>T (p.Gln79His)
n.5674G>T
n.5715G>T
 ClinVar dbSNP
17g.43045732C=CA2260761069BRCA1c.5535G= (p.Gln1845=)
c.5538G= (p.Gln1846=)
c.5412G= (p.Gln1804=)
c.5532G= (p.Gln1844=)
c.5460G= (p.Gln1820=)
c.2226G= (p.Gln742=)
c.2088G= (p.Gln696=)
c.4650G= (p.Gln1550=)
c.5415G= (p.Gln1805=)
c.5604G= (p.Gln1868=)
c.5397G= (p.Gln1799=)
c.2100G= (p.Gln700=)
n.1421G=
n.902G=
c.5601G= (p.Gln1867=)
c.1925G=
c.2112G= (p.Gln704=)
c.*5321G= (n.*5321G=)
c.*52G= (n.*52G=)
c.468G= (p.Gln156=)
c.1011G= (p.Gln337=)
c.237G= (p.Gln79=)
n.5674G=
n.5715G=
17g.43045732C>GCA055269BRCA1c.5535G>C (p.Gln1845His)
c.5538G>C (p.Gln1846His)
c.5412G>C (p.Gln1804His)
c.5532G>C (p.Gln1844His)
c.5460G>C (p.Gln1820His)
c.2226G>C (p.Gln742His)
c.2088G>C (p.Gln696His)
c.4650G>C (p.Gln1550His)
c.5415G>C (p.Gln1805His)
c.5604G>C (p.Gln1868His)
c.5397G>C (p.Gln1799His)
c.2100G>C (p.Gln700His)
n.1421G>C
n.902G>C
c.5601G>C (p.Gln1867His)
c.1925G>C
c.2112G>C (p.Gln704His)
c.*5321G>C (n.*5321G>C)
c.*52G>C (n.*52G>C)
c.468G>C (p.Gln156His)
c.1011G>C (p.Gln337His)
c.237G>C (p.Gln79His)
n.5674G>C
n.5715G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045732C>TCA003705BRCA1c.5535G>A (p.Gln1845=)
c.5538G>A (p.Gln1846=)
c.5412G>A (p.Gln1804=)
c.5532G>A (p.Gln1844=)
c.5460G>A (p.Gln1820=)
c.2226G>A (p.Gln742=)
c.2088G>A (p.Gln696=)
c.4650G>A (p.Gln1550=)
c.5415G>A (p.Gln1805=)
c.5604G>A (p.Gln1868=)
c.5397G>A (p.Gln1799=)
c.2100G>A (p.Gln700=)
n.1421G>A
n.902G>A
c.5601G>A (p.Gln1867=)
c.1925G>A
c.2112G>A (p.Gln704=)
c.*5321G>A (n.*5321G>A)
c.*52G>A (n.*52G>A)
c.468G>A (p.Gln156=)
c.1011G>A (p.Gln337=)
c.237G>A (p.Gln79=)
n.5674G>A
n.5715G>A
 ClinVar dbSNP gnomAD v4
17g.43045732_43045736delinsCTGGTCA2260761068BRCA1c.5531_5535delinsACCAG (p.Tyr1844=)
c.5534_5538delinsACCAG (p.Tyr1845=)
c.5408_5412delinsACCAG (p.Tyr1803=)
c.5528_5532delinsACCAG (p.Tyr1843=)
c.5456_5460delinsACCAG (p.Tyr1819=)
c.2222_2226delinsACCAG (p.Tyr741=)
c.2084_2088delinsACCAG (p.Tyr695=)
c.4646_4650delinsACCAG (p.Tyr1549=)
c.5411_5415delinsACCAG (p.Tyr1804=)
c.5600_5604delinsACCAG (p.Tyr1867=)
c.5393_5397delinsACCAG (p.Tyr1798=)
c.2096_2100delinsACCAG (p.Tyr699=)
n.1417_1421delinsACCAG
n.898_902delinsACCAG
c.5597_5601delinsACCAG (p.Tyr1866=)
c.1921_1925delinsACCAG
c.2108_2112delinsACCAG (p.Tyr703=)
c.*5317_*5321delinsACCAG (n.*5317_*5321delinsACCAG)
c.*48_*52delinsACCAG (n.*48_*52delinsACCAG)
c.464_468delinsACCAG (p.Tyr155=)
c.1007_1011delinsACCAG (p.Tyr336=)
c.233_237delinsACCAG (p.Tyr78=)
n.5670_5674delinsACCAG
n.5711_5715delinsACCAG
17g.43045733T>ACA10590248BRCA1c.5534A>T (p.Gln1845Leu)
c.5537A>T (p.Gln1846Leu)
c.5411A>T (p.Gln1804Leu)
c.5531A>T (p.Gln1844Leu)
c.5459A>T (p.Gln1820Leu)
c.2225A>T (p.Gln742Leu)
c.2087A>T (p.Gln696Leu)
c.4649A>T (p.Gln1550Leu)
c.5414A>T (p.Gln1805Leu)
c.5603A>T (p.Gln1868Leu)
c.5396A>T (p.Gln1799Leu)
c.2099A>T (p.Gln700Leu)
n.1420A>T
n.901A>T
c.5600A>T (p.Gln1867Leu)
c.1924A>T
c.2111A>T (p.Gln704Leu)
c.*5320A>T (n.*5320A>T)
c.*51A>T (n.*51A>T)
c.467A>T (p.Gln156Leu)
c.1010A>T (p.Gln337Leu)
c.236A>T (p.Gln79Leu)
n.5673A>T
n.5714A>T
 ClinVar dbSNP
17g.43045733T>CCA10590249BRCA1c.5534A>G (p.Gln1845Arg)
c.5537A>G (p.Gln1846Arg)
c.5411A>G (p.Gln1804Arg)
c.5531A>G (p.Gln1844Arg)
c.5459A>G (p.Gln1820Arg)
c.2225A>G (p.Gln742Arg)
c.2087A>G (p.Gln696Arg)
c.4649A>G (p.Gln1550Arg)
c.5414A>G (p.Gln1805Arg)
c.5603A>G (p.Gln1868Arg)
c.5396A>G (p.Gln1799Arg)
c.2099A>G (p.Gln700Arg)
n.1420A>G
n.901A>G
c.5600A>G (p.Gln1867Arg)
c.1924A>G
c.2111A>G (p.Gln704Arg)
c.*5320A>G (n.*5320A>G)
c.*51A>G (n.*51A>G)
c.467A>G (p.Gln156Arg)
c.1010A>G (p.Gln337Arg)
c.236A>G (p.Gln79Arg)
n.5673A>G
n.5714A>G
 ClinVar dbSNP
17g.43045733T>GCA10590250BRCA1c.5534A>C (p.Gln1845Pro)
c.5537A>C (p.Gln1846Pro)
c.5411A>C (p.Gln1804Pro)
c.5531A>C (p.Gln1844Pro)
c.5459A>C (p.Gln1820Pro)
c.2225A>C (p.Gln742Pro)
c.2087A>C (p.Gln696Pro)
c.4649A>C (p.Gln1550Pro)
c.5414A>C (p.Gln1805Pro)
c.5603A>C (p.Gln1868Pro)
c.5396A>C (p.Gln1799Pro)
c.2099A>C (p.Gln700Pro)
n.1420A>C
n.901A>C
c.5600A>C (p.Gln1867Pro)
c.1924A>C
c.2111A>C (p.Gln704Pro)
c.*5320A>C (n.*5320A>C)
c.*51A>C (n.*51A>C)
c.467A>C (p.Gln156Pro)
c.1010A>C (p.Gln337Pro)
c.236A>C (p.Gln79Pro)
n.5673A>C
n.5714A>C
 ClinVar dbSNP
17g.43045733T=CA2260761070BRCA1c.5534A= (p.Gln1845=)
c.5537A= (p.Gln1846=)
c.5411A= (p.Gln1804=)
c.5531A= (p.Gln1844=)
c.5459A= (p.Gln1820=)
c.2225A= (p.Gln742=)
c.2087A= (p.Gln696=)
c.4649A= (p.Gln1550=)
c.5414A= (p.Gln1805=)
c.5603A= (p.Gln1868=)
c.5396A= (p.Gln1799=)
c.2099A= (p.Gln700=)
n.1420A=
n.901A=
c.5600A= (p.Gln1867=)
c.1924A=
c.2111A= (p.Gln704=)
c.*5320A= (n.*5320A=)
c.*51A= (n.*51A=)
c.467A= (p.Gln156=)
c.1010A= (p.Gln337=)
c.236A= (p.Gln79=)
n.5673A=
n.5714A=
17g.43045733_43045734delinsTGCA2260761071BRCA1c.5533_5534delinsCA (p.Gln1845=)
c.5536_5537delinsCA (p.Gln1846=)
c.5410_5411delinsCA (p.Gln1804=)
c.5530_5531delinsCA (p.Gln1844=)
c.5458_5459delinsCA (p.Gln1820=)
c.2224_2225delinsCA (p.Gln742=)
c.2086_2087delinsCA (p.Gln696=)
c.4648_4649delinsCA (p.Gln1550=)
c.5413_5414delinsCA (p.Gln1805=)
c.5602_5603delinsCA (p.Gln1868=)
c.5395_5396delinsCA (p.Gln1799=)
c.2098_2099delinsCA (p.Gln700=)
n.1419_1420delinsCA
n.900_901delinsCA
c.5599_5600delinsCA (p.Gln1867=)
c.1923_1924delinsCA
c.2110_2111delinsCA (p.Gln704=)
c.*5319_*5320delinsCA (n.*5319_*5320delinsCA)
c.*50_*51delinsCA (n.*50_*51delinsCA)
c.466_467delinsCA (p.Gln156=)
c.1009_1010delinsCA (p.Gln337=)
c.235_236delinsCA (p.Gln79=)
n.5672_5673delinsCA
n.5713_5714delinsCA
17g.43045733_43045736delCA914177698BRCA1c.5531_5534del (p.Tyr1844CysfsTer9)
c.5534_5537del (p.Tyr1845CysfsTer9)
c.5408_5411del (p.Tyr1803CysfsTer9)
c.5528_5531del (p.Tyr1843CysfsTer9)
c.5456_5459del (p.Tyr1819CysfsTer9)
c.2222_2225del (p.Tyr741CysfsTer9)
c.2084_2087del (p.Tyr695CysfsTer9)
c.4646_4649del (p.Tyr1549CysfsTer9)
c.5411_5414del (p.Tyr1804CysfsTer9)
c.5600_5603del (p.Tyr1867CysfsTer9)
c.5393_5396del (p.Tyr1798CysfsTer9)
c.2096_2099del (p.Tyr699CysfsTer9)
n.1417_1420del
n.898_901del
c.5597_5600del (p.Tyr1866CysfsTer9)
c.1921_1924del
c.2108_2111del (p.Tyr703CysfsTer9)
c.*5317_*5320del (n.*5317_*5320del)
c.*48_*51del (n.*48_*51del)
c.464_467del (p.Tyr155CysfsTer9)
c.1007_1010del (p.Tyr336CysfsTer9)
c.233_236del (p.Tyr78CysfsTer9)
n.5670_5673del
n.5711_5714del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045734G>ACA003704BRCA1c.5533C>T (p.Gln1845Ter)
c.5536C>T (p.Gln1846Ter)
c.5410C>T (p.Gln1804Ter)
c.5530C>T (p.Gln1844Ter)
c.5458C>T (p.Gln1820Ter)
c.2224C>T (p.Gln742Ter)
c.2086C>T (p.Gln696Ter)
c.4648C>T (p.Gln1550Ter)
c.5413C>T (p.Gln1805Ter)
c.5602C>T (p.Gln1868Ter)
c.5395C>T (p.Gln1799Ter)
c.2098C>T (p.Gln700Ter)
n.1419C>T
n.900C>T
c.5599C>T (p.Gln1867Ter)
c.1923C>T
c.2110C>T (p.Gln704Ter)
c.*5319C>T (n.*5319C>T)
c.*50C>T (n.*50C>T)
c.466C>T (p.Gln156Ter)
c.1009C>T (p.Gln337Ter)
c.235C>T (p.Gln79Ter)
n.5672C>T
n.5713C>T
 ClinVar dbSNP
17g.43045734G>CCA10590251BRCA1c.5533C>G (p.Gln1845Glu)
c.5536C>G (p.Gln1846Glu)
c.5410C>G (p.Gln1804Glu)
c.5530C>G (p.Gln1844Glu)
c.5458C>G (p.Gln1820Glu)
c.2224C>G (p.Gln742Glu)
c.2086C>G (p.Gln696Glu)
c.4648C>G (p.Gln1550Glu)
c.5413C>G (p.Gln1805Glu)
c.5602C>G (p.Gln1868Glu)
c.5395C>G (p.Gln1799Glu)
c.2098C>G (p.Gln700Glu)
n.1419C>G
n.900C>G
c.5599C>G (p.Gln1867Glu)
c.1923C>G
c.2110C>G (p.Gln704Glu)
c.*5319C>G (n.*5319C>G)
c.*50C>G (n.*50C>G)
c.466C>G (p.Gln156Glu)
c.1009C>G (p.Gln337Glu)
c.235C>G (p.Gln79Glu)
n.5672C>G
n.5713C>G
 ClinVar dbSNP
17g.43045734G=CA2260761072BRCA1c.5533C= (p.Gln1845=)
c.5536C= (p.Gln1846=)
c.5410C= (p.Gln1804=)
c.5530C= (p.Gln1844=)
c.5458C= (p.Gln1820=)
c.2224C= (p.Gln742=)
c.2086C= (p.Gln696=)
c.4648C= (p.Gln1550=)
c.5413C= (p.Gln1805=)
c.5602C= (p.Gln1868=)
c.5395C= (p.Gln1799=)
c.2098C= (p.Gln700=)
n.1419C=
n.900C=
c.5599C= (p.Gln1867=)
c.1923C=
c.2110C= (p.Gln704=)
c.*5319C= (n.*5319C=)
c.*50C= (n.*50C=)
c.466C= (p.Gln156=)
c.1009C= (p.Gln337=)
c.235C= (p.Gln79=)
n.5672C=
n.5713C=
17g.43045734G>TCA10590252BRCA1c.5533C>A (p.Gln1845Lys)
c.5536C>A (p.Gln1846Lys)
c.5410C>A (p.Gln1804Lys)
c.5530C>A (p.Gln1844Lys)
c.5458C>A (p.Gln1820Lys)
c.2224C>A (p.Gln742Lys)
c.2086C>A (p.Gln696Lys)
c.4648C>A (p.Gln1550Lys)
c.5413C>A (p.Gln1805Lys)
c.5602C>A (p.Gln1868Lys)
c.5395C>A (p.Gln1799Lys)
c.2098C>A (p.Gln700Lys)
n.1419C>A
n.900C>A
c.5599C>A (p.Gln1867Lys)
c.1923C>A
c.2110C>A (p.Gln704Lys)
c.*5319C>A (n.*5319C>A)
c.*50C>A (n.*50C>A)
c.466C>A (p.Gln156Lys)
c.1009C>A (p.Gln337Lys)
c.235C>A (p.Gln79Lys)
n.5672C>A
n.5713C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045735delCA10589584BRCA1c.5533del (p.Gln1845SerfsTer9)
c.5536del (p.Gln1846SerfsTer9)
c.5410del (p.Gln1804SerfsTer9)
c.5530del (p.Gln1844SerfsTer9)
c.5458del (p.Gln1820SerfsTer9)
c.2224del (p.Gln742SerfsTer9)
c.2086del (p.Gln696SerfsTer9)
c.4648del (p.Gln1550SerfsTer9)
c.5413del (p.Gln1805SerfsTer9)
c.5602del (p.Gln1868SerfsTer9)
c.5395del (p.Gln1799SerfsTer9)
c.2098del (p.Gln700SerfsTer9)
n.1419del
n.900del
c.5599del (p.Gln1867SerfsTer9)
c.1923del
c.2110del (p.Gln704SerfsTer9)
c.*5319del (n.*5319del)
c.*50del (n.*50del)
c.466del (p.Gln156SerfsTer9)
c.1009del (p.Gln337SerfsTer9)
c.235del (p.Gln79SerfsTer9)
n.5672del
n.5713del
 ClinVar dbSNP
17g.43045734_43045743dupCA2638036269BRCA1c.5524_5533dup (p.Gln1845ArgfsTer?)
c.5527_5536dup (p.Gln1846ArgfsTer?)
c.5401_5410dup (p.Gln1804ArgfsTer?)
c.5521_5530dup (p.Gln1844ArgfsTer?)
c.5449_5458dup (p.Gln1820ArgfsTer?)
c.2215_2224dup (p.Gln742ArgfsTer?)
c.2077_2086dup (p.Gln696ArgfsTer?)
c.4639_4648dup (p.Gln1550ArgfsTer?)
c.5404_5413dup (p.Gln1805ArgfsTer?)
c.5593_5602dup (p.Gln1868ArgfsTer?)
c.5386_5395dup (p.Gln1799ArgfsTer?)
c.2089_2098dup (p.Gln700ArgfsTer?)
n.1410_1419dup
n.891_900dup
c.5590_5599dup (p.Gln1867ArgfsTer?)
c.1914_1923dup
c.2101_2110dup (p.Gln704ArgfsTer?)
c.*5310_*5319dup (n.*5310_*5319dup)
c.*41_*50dup (n.*41_*50dup)
c.457_466dup (p.Gln156ArgfsTer?)
c.1000_1009dup (p.Gln337ArgfsTer?)
c.226_235dup (p.Gln79ArgfsTer?)
n.5663_5672dup
n.5704_5713dup
 gnomAD v4
17g.43045735G>ACA500142890BRCA1c.5532C>T (p.Tyr1844=)
c.5535C>T (p.Tyr1845=)
c.5409C>T (p.Tyr1803=)
c.5529C>T (p.Tyr1843=)
c.5457C>T (p.Tyr1819=)
c.2223C>T (p.Tyr741=)
c.2085C>T (p.Tyr695=)
c.4647C>T (p.Tyr1549=)
c.5412C>T (p.Tyr1804=)
c.5601C>T (p.Tyr1867=)
c.5394C>T (p.Tyr1798=)
c.2097C>T (p.Tyr699=)
n.1418C>T
n.899C>T
c.5598C>T (p.Tyr1866=)
c.1922C>T
c.2109C>T (p.Tyr703=)
c.*5318C>T (n.*5318C>T)
c.*49C>T (n.*49C>T)
c.465C>T (p.Tyr155=)
c.1008C>T (p.Tyr336=)
c.234C>T (p.Tyr78=)
n.5671C>T
n.5712C>T
 ClinVar dbSNP
17g.43045735G>CCA10589585BRCA1c.5532C>G (p.Tyr1844Ter)
c.5535C>G (p.Tyr1845Ter)
c.5409C>G (p.Tyr1803Ter)
c.5529C>G (p.Tyr1843Ter)
c.5457C>G (p.Tyr1819Ter)
c.2223C>G (p.Tyr741Ter)
c.2085C>G (p.Tyr695Ter)
c.4647C>G (p.Tyr1549Ter)
c.5412C>G (p.Tyr1804Ter)
c.5601C>G (p.Tyr1867Ter)
c.5394C>G (p.Tyr1798Ter)
c.2097C>G (p.Tyr699Ter)
n.1418C>G
n.899C>G
c.5598C>G (p.Tyr1866Ter)
c.1922C>G
c.2109C>G (p.Tyr703Ter)
c.*5318C>G (n.*5318C>G)
c.*49C>G (n.*49C>G)
c.465C>G (p.Tyr155Ter)
c.1008C>G (p.Tyr336Ter)
c.234C>G (p.Tyr78Ter)
n.5671C>G
n.5712C>G
 ClinVar dbSNP
17g.43045735G=CA2260761074BRCA1c.5532C= (p.Tyr1844=)
c.5535C= (p.Tyr1845=)
c.5409C= (p.Tyr1803=)
c.5529C= (p.Tyr1843=)
c.5457C= (p.Tyr1819=)
c.2223C= (p.Tyr741=)
c.2085C= (p.Tyr695=)
c.4647C= (p.Tyr1549=)
c.5412C= (p.Tyr1804=)
c.5601C= (p.Tyr1867=)
c.5394C= (p.Tyr1798=)
c.2097C= (p.Tyr699=)
n.1418C=
n.899C=
c.5598C= (p.Tyr1866=)
c.1922C=
c.2109C= (p.Tyr703=)
c.*5318C= (n.*5318C=)
c.*49C= (n.*49C=)
c.465C= (p.Tyr155=)
c.1008C= (p.Tyr336=)
c.234C= (p.Tyr78=)
n.5671C=
n.5712C=
17g.43045735G>TCA003703BRCA1c.5532C>A (p.Tyr1844Ter)
c.5535C>A (p.Tyr1845Ter)
c.5409C>A (p.Tyr1803Ter)
c.5529C>A (p.Tyr1843Ter)
c.5457C>A (p.Tyr1819Ter)
c.2223C>A (p.Tyr741Ter)
c.2085C>A (p.Tyr695Ter)
c.4647C>A (p.Tyr1549Ter)
c.5412C>A (p.Tyr1804Ter)
c.5601C>A (p.Tyr1867Ter)
c.5394C>A (p.Tyr1798Ter)
c.2097C>A (p.Tyr699Ter)
n.1418C>A
n.899C>A
c.5598C>A (p.Tyr1866Ter)
c.1922C>A
c.2109C>A (p.Tyr703Ter)
c.*5318C>A (n.*5318C>A)
c.*49C>A (n.*49C>A)
c.465C>A (p.Tyr155Ter)
c.1008C>A (p.Tyr336Ter)
c.234C>A (p.Tyr78Ter)
n.5671C>A
n.5712C>A
 ClinVar dbSNP
17g.43045735_43045736delinsGTCA2260761073BRCA1c.5531_5532delinsAC (p.Tyr1844=)
c.5534_5535delinsAC (p.Tyr1845=)
c.5408_5409delinsAC (p.Tyr1803=)
c.5528_5529delinsAC (p.Tyr1843=)
c.5456_5457delinsAC (p.Tyr1819=)
c.2222_2223delinsAC (p.Tyr741=)
c.2084_2085delinsAC (p.Tyr695=)
c.4646_4647delinsAC (p.Tyr1549=)
c.5411_5412delinsAC (p.Tyr1804=)
c.5600_5601delinsAC (p.Tyr1867=)
c.5393_5394delinsAC (p.Tyr1798=)
c.2096_2097delinsAC (p.Tyr699=)
n.1417_1418delinsAC
n.898_899delinsAC
c.5597_5598delinsAC (p.Tyr1866=)
c.1921_1922delinsAC
c.2108_2109delinsAC (p.Tyr703=)
c.*5317_*5318delinsAC (n.*5317_*5318delinsAC)
c.*48_*49delinsAC (n.*48_*49delinsAC)
c.464_465delinsAC (p.Tyr155=)
c.1007_1008delinsAC (p.Tyr336=)
c.233_234delinsAC (p.Tyr78=)
n.5670_5671delinsAC
n.5711_5712delinsAC
17g.43045736delCA16616882BRCA1c.5531del (p.Tyr1844SerfsTer10)
c.5534del (p.Tyr1845SerfsTer10)
c.5408del (p.Tyr1803SerfsTer10)
c.5528del (p.Tyr1843SerfsTer10)
c.5456del (p.Tyr1819SerfsTer10)
c.2222del (p.Tyr741SerfsTer10)
c.2084del (p.Tyr695SerfsTer10)
c.4646del (p.Tyr1549SerfsTer10)
c.5411del (p.Tyr1804SerfsTer10)
c.5600del (p.Tyr1867SerfsTer10)
c.5393del (p.Tyr1798SerfsTer10)
c.2096del (p.Tyr699SerfsTer10)
n.1417del
n.898del
c.5597del (p.Tyr1866SerfsTer10)
c.1921del
c.2108del (p.Tyr703SerfsTer10)
c.*5317del (n.*5317del)
c.*48del (n.*48del)
c.464del (p.Tyr155SerfsTer10)
c.1007del (p.Tyr336SerfsTer10)
c.233del (p.Tyr78SerfsTer10)
n.5670del
n.5711del
 ClinVar dbSNP
17g.43045736T>ACA10590253BRCA1c.5531A>T (p.Tyr1844Phe)
c.5534A>T (p.Tyr1845Phe)
c.5408A>T (p.Tyr1803Phe)
c.5528A>T (p.Tyr1843Phe)
c.5456A>T (p.Tyr1819Phe)
c.2222A>T (p.Tyr741Phe)
c.2084A>T (p.Tyr695Phe)
c.4646A>T (p.Tyr1549Phe)
c.5411A>T (p.Tyr1804Phe)
c.5600A>T (p.Tyr1867Phe)
c.5393A>T (p.Tyr1798Phe)
c.2096A>T (p.Tyr699Phe)
n.1417A>T
n.898A>T
c.5597A>T (p.Tyr1866Phe)
c.1921A>T
c.2108A>T (p.Tyr703Phe)
c.*5317A>T (n.*5317A>T)
c.*48A>T (n.*48A>T)
c.464A>T (p.Tyr155Phe)
c.1007A>T (p.Tyr336Phe)
c.233A>T (p.Tyr78Phe)
n.5670A>T
n.5711A>T
 ClinVar dbSNP
17g.43045736T>CCA10580481BRCA1c.5531A>G (p.Tyr1844Cys)
c.5534A>G (p.Tyr1845Cys)
c.5408A>G (p.Tyr1803Cys)
c.5528A>G (p.Tyr1843Cys)
c.5456A>G (p.Tyr1819Cys)
c.2222A>G (p.Tyr741Cys)
c.2084A>G (p.Tyr695Cys)
c.4646A>G (p.Tyr1549Cys)
c.5411A>G (p.Tyr1804Cys)
c.5600A>G (p.Tyr1867Cys)
c.5393A>G (p.Tyr1798Cys)
c.2096A>G (p.Tyr699Cys)
n.1417A>G
n.898A>G
c.5597A>G (p.Tyr1866Cys)
c.1921A>G
c.2108A>G (p.Tyr703Cys)
c.*5317A>G (n.*5317A>G)
c.*48A>G (n.*48A>G)
c.464A>G (p.Tyr155Cys)
c.1007A>G (p.Tyr336Cys)
c.233A>G (p.Tyr78Cys)
n.5670A>G
n.5711A>G
 ClinVar dbSNP
17g.43045736T>GCA10590254BRCA1c.5531A>C (p.Tyr1844Ser)
c.5534A>C (p.Tyr1845Ser)
c.5408A>C (p.Tyr1803Ser)
c.5528A>C (p.Tyr1843Ser)
c.5456A>C (p.Tyr1819Ser)
c.2222A>C (p.Tyr741Ser)
c.2084A>C (p.Tyr695Ser)
c.4646A>C (p.Tyr1549Ser)
c.5411A>C (p.Tyr1804Ser)
c.5600A>C (p.Tyr1867Ser)
c.5393A>C (p.Tyr1798Ser)
c.2096A>C (p.Tyr699Ser)
n.1417A>C
n.898A>C
c.5597A>C (p.Tyr1866Ser)
c.1921A>C
c.2108A>C (p.Tyr703Ser)
c.*5317A>C (n.*5317A>C)
c.*48A>C (n.*48A>C)
c.464A>C (p.Tyr155Ser)
c.1007A>C (p.Tyr336Ser)
c.233A>C (p.Tyr78Ser)
n.5670A>C
n.5711A>C
 ClinVar dbSNP
17g.43045736T=CA2260761075BRCA1c.5531A= (p.Tyr1844=)
c.5534A= (p.Tyr1845=)
c.5408A= (p.Tyr1803=)
c.5528A= (p.Tyr1843=)
c.5456A= (p.Tyr1819=)
c.2222A= (p.Tyr741=)
c.2084A= (p.Tyr695=)
c.4646A= (p.Tyr1549=)
c.5411A= (p.Tyr1804=)
c.5600A= (p.Tyr1867=)
c.5393A= (p.Tyr1798=)
c.2096A= (p.Tyr699=)
n.1417A=
n.898A=
c.5597A= (p.Tyr1866=)
c.1921A=
c.2108A= (p.Tyr703=)
c.*5317A= (n.*5317A=)
c.*48A= (n.*48A=)
c.464A= (p.Tyr155=)
c.1007A= (p.Tyr336=)
c.233A= (p.Tyr78=)
n.5670A=
n.5711A=
17g.43045736_43045738delinsTAGCA2260761076BRCA1c.5529_5531delinsCTA (p.Leu1843=)
c.5532_5534delinsCTA (p.Leu1844=)
c.5406_5408delinsCTA (p.Leu1802=)
c.5526_5528delinsCTA (p.Leu1842=)
c.5454_5456delinsCTA (p.Leu1818=)
c.2220_2222delinsCTA (p.Leu740=)
c.2082_2084delinsCTA (p.Leu694=)
c.4644_4646delinsCTA (p.Leu1548=)
c.5409_5411delinsCTA (p.Leu1803=)
c.5598_5600delinsCTA (p.Leu1866=)
c.5391_5393delinsCTA (p.Leu1797=)
c.2094_2096delinsCTA (p.Leu698=)
n.1415_1417delinsCTA
n.896_898delinsCTA
c.5595_5597delinsCTA (p.Leu1865=)
c.1919_1921delinsCTA
c.2106_2108delinsCTA (p.Leu702=)
c.*5315_*5317delinsCTA (n.*5315_*5317delinsCTA)
c.*46_*48delinsCTA (n.*46_*48delinsCTA)
c.462_464delinsCTA (p.Leu154=)
c.1005_1007delinsCTA (p.Leu335=)
c.231_233delinsCTA (p.Leu77=)
n.5668_5670delinsCTA
n.5709_5711delinsCTA
17g.43045736_43045737insCCA658824706BRCA1c.5530_5531insG (p.Tyr1844Ter)
c.5533_5534insG (p.Tyr1845Ter)
c.5407_5408insG (p.Tyr1803Ter)
c.5527_5528insG (p.Tyr1843Ter)
c.5455_5456insG (p.Tyr1819Ter)
c.2221_2222insG (p.Tyr741Ter)
c.2083_2084insG (p.Tyr695Ter)
c.4645_4646insG (p.Tyr1549Ter)
c.5410_5411insG (p.Tyr1804Ter)
c.5599_5600insG (p.Tyr1867Ter)
c.5392_5393insG (p.Tyr1798Ter)
c.2095_2096insG (p.Tyr699Ter)
n.1416_1417insG
n.897_898insG
c.5596_5597insG (p.Tyr1866Ter)
c.1920_1921insG
c.2107_2108insG (p.Tyr703Ter)
c.*5316_*5317insG (n.*5316_*5317insG)
c.*47_*48insG (n.*47_*48insG)
c.463_464insG (p.Tyr155Ter)
c.1006_1007insG (p.Tyr336Ter)
c.232_233insG (p.Tyr78Ter)
n.5669_5670insG
n.5710_5711insG
 ClinVar dbSNP
17g.43045737A=CA2260761077BRCA1c.5530T= (p.Tyr1844=)
c.5533T= (p.Tyr1845=)
c.5407T= (p.Tyr1803=)
c.5527T= (p.Tyr1843=)
c.5455T= (p.Tyr1819=)
c.2221T= (p.Tyr741=)
c.2083T= (p.Tyr695=)
c.4645T= (p.Tyr1549=)
c.5410T= (p.Tyr1804=)
c.5599T= (p.Tyr1867=)
c.5392T= (p.Tyr1798=)
c.2095T= (p.Tyr699=)
n.1416T=
n.897T=
c.5596T= (p.Tyr1866=)
c.1920T=
c.2107T= (p.Tyr703=)
c.*5316T= (n.*5316T=)
c.*47T= (n.*47T=)
c.463T= (p.Tyr155=)
c.1006T= (p.Tyr336=)
c.232T= (p.Tyr78=)
n.5669T=
n.5710T=
17g.43045737A>CCA10590255BRCA1c.5530T>G (p.Tyr1844Asp)
c.5533T>G (p.Tyr1845Asp)
c.5407T>G (p.Tyr1803Asp)
c.5527T>G (p.Tyr1843Asp)
c.5455T>G (p.Tyr1819Asp)
c.2221T>G (p.Tyr741Asp)
c.2083T>G (p.Tyr695Asp)
c.4645T>G (p.Tyr1549Asp)
c.5410T>G (p.Tyr1804Asp)
c.5599T>G (p.Tyr1867Asp)
c.5392T>G (p.Tyr1798Asp)
c.2095T>G (p.Tyr699Asp)
n.1416T>G
n.897T>G
c.5596T>G (p.Tyr1866Asp)
c.1920T>G
c.2107T>G (p.Tyr703Asp)
c.*5316T>G (n.*5316T>G)
c.*47T>G (n.*47T>G)
c.463T>G (p.Tyr155Asp)
c.1006T>G (p.Tyr336Asp)
c.232T>G (p.Tyr78Asp)
n.5669T>G
n.5710T>G
 ClinVar dbSNP
17g.43045737A>GCA10590256BRCA1c.5530T>C (p.Tyr1844His)
c.5533T>C (p.Tyr1845His)
c.5407T>C (p.Tyr1803His)
c.5527T>C (p.Tyr1843His)
c.5455T>C (p.Tyr1819His)
c.2221T>C (p.Tyr741His)
c.2083T>C (p.Tyr695His)
c.4645T>C (p.Tyr1549His)
c.5410T>C (p.Tyr1804His)
c.5599T>C (p.Tyr1867His)
c.5392T>C (p.Tyr1798His)
c.2095T>C (p.Tyr699His)
n.1416T>C
n.897T>C
c.5596T>C (p.Tyr1866His)
c.1920T>C
c.2107T>C (p.Tyr703His)
c.*5316T>C (n.*5316T>C)
c.*47T>C (n.*47T>C)
c.463T>C (p.Tyr155His)
c.1006T>C (p.Tyr336His)
c.232T>C (p.Tyr78His)
n.5669T>C
n.5710T>C
 ClinVar dbSNP
17g.43045737A>TCA10590257BRCA1c.5530T>A (p.Tyr1844Asn)
c.5533T>A (p.Tyr1845Asn)
c.5407T>A (p.Tyr1803Asn)
c.5527T>A (p.Tyr1843Asn)
c.5455T>A (p.Tyr1819Asn)
c.2221T>A (p.Tyr741Asn)
c.2083T>A (p.Tyr695Asn)
c.4645T>A (p.Tyr1549Asn)
c.5410T>A (p.Tyr1804Asn)
c.5599T>A (p.Tyr1867Asn)
c.5392T>A (p.Tyr1798Asn)
c.2095T>A (p.Tyr699Asn)
n.1416T>A
n.897T>A
c.5596T>A (p.Tyr1866Asn)
c.1920T>A
c.2107T>A (p.Tyr703Asn)
c.*5316T>A (n.*5316T>A)
c.*47T>A (n.*47T>A)
c.463T>A (p.Tyr155Asn)
c.1006T>A (p.Tyr336Asn)
c.232T>A (p.Tyr78Asn)
n.5669T>A
n.5710T>A
 ClinVar dbSNP
17g.43045737dupCA328026BRCA1c.5530dup (p.Tyr1844LeufsTer?)
c.5533dup (p.Tyr1845LeufsTer?)
c.5407dup (p.Tyr1803LeufsTer?)
c.5527dup (p.Tyr1843LeufsTer?)
c.5455dup (p.Tyr1819LeufsTer?)
c.2221dup (p.Tyr741LeufsTer?)
c.2083dup (p.Tyr695LeufsTer?)
c.4645dup (p.Tyr1549LeufsTer?)
c.5410dup (p.Tyr1804LeufsTer?)
c.5599dup (p.Tyr1867LeufsTer?)
c.5392dup (p.Tyr1798LeufsTer?)
c.2095dup (p.Tyr699LeufsTer?)
n.1416dup
n.897dup
c.5596dup (p.Tyr1866LeufsTer?)
c.1920dup
c.2107dup (p.Tyr703LeufsTer?)
c.*5316dup (n.*5316dup)
c.*47dup (n.*47dup)
c.463dup (p.Tyr155LeufsTer?)
c.1006dup (p.Tyr336LeufsTer?)
c.232dup (p.Tyr78LeufsTer?)
n.5669dup
n.5710dup
 ClinVar dbSNP
17g.43045739_43045740delCA16620417BRCA1c.5529_5530del (p.Tyr1844ProfsTer?)
c.5532_5533del (p.Tyr1845ProfsTer?)
c.5406_5407del (p.Tyr1803ProfsTer?)
c.5526_5527del (p.Tyr1843ProfsTer?)
c.5454_5455del (p.Tyr1819ProfsTer?)
c.2220_2221del (p.Tyr741ProfsTer?)
c.2082_2083del (p.Tyr695ProfsTer?)
c.4644_4645del (p.Tyr1549ProfsTer?)
c.5409_5410del (p.Tyr1804ProfsTer?)
c.5598_5599del (p.Tyr1867ProfsTer?)
c.5391_5392del (p.Tyr1798ProfsTer?)
c.2094_2095del (p.Tyr699ProfsTer?)
n.1415_1416del
n.896_897del
c.5595_5596del (p.Tyr1866ProfsTer?)
c.1919_1920del
c.2106_2107del (p.Tyr703ProfsTer?)
c.*5315_*5316del (n.*5315_*5316del)
c.*46_*47del (n.*46_*47del)
c.462_463del (p.Tyr155ProfsTer?)
c.1005_1006del (p.Tyr336ProfsTer?)
c.231_232del (p.Tyr78ProfsTer?)
n.5668_5669del
n.5709_5710del
 ClinVar dbSNP
17g.43045737_43045738insCCA003700BRCA1c.5529_5530insG (p.Tyr1844ValfsTer?)
c.5532_5533insG (p.Tyr1845ValfsTer?)
c.5406_5407insG (p.Tyr1803ValfsTer?)
c.5526_5527insG (p.Tyr1843ValfsTer?)
c.5454_5455insG (p.Tyr1819ValfsTer?)
c.2220_2221insG (p.Tyr741ValfsTer?)
c.2082_2083insG (p.Tyr695ValfsTer?)
c.4644_4645insG (p.Tyr1549ValfsTer?)
c.5409_5410insG (p.Tyr1804ValfsTer?)
c.5598_5599insG (p.Tyr1867ValfsTer?)
c.5391_5392insG (p.Tyr1798ValfsTer?)
c.2094_2095insG (p.Tyr699ValfsTer?)
n.1415_1416insG
n.896_897insG
c.5595_5596insG (p.Tyr1866ValfsTer?)
c.1919_1920insG
c.2106_2107insG (p.Tyr703ValfsTer?)
c.*5315_*5316insG (n.*5315_*5316insG)
c.*46_*47insG (n.*46_*47insG)
c.462_463insG (p.Tyr155ValfsTer?)
c.1005_1006insG (p.Tyr336ValfsTer?)
c.231_232insG (p.Tyr78ValfsTer?)
n.5668_5669insG
n.5709_5710insG
 ClinVar dbSNP
17g.43045738G>ACA003702BRCA1c.5529C>T (p.Leu1843=)
c.5532C>T (p.Leu1844=)
c.5406C>T (p.Leu1802=)
c.5526C>T (p.Leu1842=)
c.5454C>T (p.Leu1818=)
c.2220C>T (p.Leu740=)
c.2082C>T (p.Leu694=)
c.4644C>T (p.Leu1548=)
c.5409C>T (p.Leu1803=)
c.5598C>T (p.Leu1866=)
c.5391C>T (p.Leu1797=)
c.2094C>T (p.Leu698=)
n.1415C>T
n.896C>T
c.5595C>T (p.Leu1865=)
c.1919C>T
c.2106C>T (p.Leu702=)
c.*5315C>T (n.*5315C>T)
c.*46C>T (n.*46C>T)
c.462C>T (p.Leu154=)
c.1005C>T (p.Leu335=)
c.231C>T (p.Leu77=)
n.5668C>T
n.5709C>T
 ClinVar dbSNP
17g.43045738G>CCA500142891BRCA1c.5529C>G (p.Leu1843=)
c.5532C>G (p.Leu1844=)
c.5406C>G (p.Leu1802=)
c.5526C>G (p.Leu1842=)
c.5454C>G (p.Leu1818=)
c.2220C>G (p.Leu740=)
c.2082C>G (p.Leu694=)
c.4644C>G (p.Leu1548=)
c.5409C>G (p.Leu1803=)
c.5598C>G (p.Leu1866=)
c.5391C>G (p.Leu1797=)
c.2094C>G (p.Leu698=)
n.1415C>G
n.896C>G
c.5595C>G (p.Leu1865=)
c.1919C>G
c.2106C>G (p.Leu702=)
c.*5315C>G (n.*5315C>G)
c.*46C>G (n.*46C>G)
c.462C>G (p.Leu154=)
c.1005C>G (p.Leu335=)
c.231C>G (p.Leu77=)
n.5668C>G
n.5709C>G
 ClinVar dbSNP
17g.43045738G=CA2260761079BRCA1c.5529C= (p.Leu1843=)
c.5532C= (p.Leu1844=)
c.5406C= (p.Leu1802=)
c.5526C= (p.Leu1842=)
c.5454C= (p.Leu1818=)
c.2220C= (p.Leu740=)
c.2082C= (p.Leu694=)
c.4644C= (p.Leu1548=)
c.5409C= (p.Leu1803=)
c.5598C= (p.Leu1866=)
c.5391C= (p.Leu1797=)
c.2094C= (p.Leu698=)
n.1415C=
n.896C=
c.5595C= (p.Leu1865=)
c.1919C=
c.2106C= (p.Leu702=)
c.*5315C= (n.*5315C=)
c.*46C= (n.*46C=)
c.462C= (p.Leu154=)
c.1005C= (p.Leu335=)
c.231C= (p.Leu77=)
n.5668C=
n.5709C=
17g.43045738G>TCA500142892BRCA1c.5529C>A (p.Leu1843=)
c.5532C>A (p.Leu1844=)
c.5406C>A (p.Leu1802=)
c.5526C>A (p.Leu1842=)
c.5454C>A (p.Leu1818=)
c.2220C>A (p.Leu740=)
c.2082C>A (p.Leu694=)
c.4644C>A (p.Leu1548=)
c.5409C>A (p.Leu1803=)
c.5598C>A (p.Leu1866=)
c.5391C>A (p.Leu1797=)
c.2094C>A (p.Leu698=)
n.1415C>A
n.896C>A
c.5595C>A (p.Leu1865=)
c.1919C>A
c.2106C>A (p.Leu702=)
c.*5315C>A (n.*5315C>A)
c.*46C>A (n.*46C>A)
c.462C>A (p.Leu154=)
c.1005C>A (p.Leu335=)
c.231C>A (p.Leu77=)
n.5668C>A
n.5709C>A
 ClinVar dbSNP
17g.43045738_43045746delinsGAGTGCTACCA2260761078BRCA1c.5521_5529delinsGTAGCACTC (p.Val1841=)
c.5524_5532delinsGTAGCACTC (p.Val1842=)
c.5398_5406delinsGTAGCACTC (p.Val1800=)
c.5518_5526delinsGTAGCACTC (p.Val1840=)
c.5446_5454delinsGTAGCACTC (p.Val1816=)
c.2212_2220delinsGTAGCACTC (p.Val738=)
c.2074_2082delinsGTAGCACTC (p.Val692=)
c.4636_4644delinsGTAGCACTC (p.Val1546=)
c.5401_5409delinsGTAGCACTC (p.Val1801=)
c.5590_5598delinsGTAGCACTC (p.Val1864=)
c.5383_5391delinsGTAGCACTC (p.Val1795=)
c.2086_2094delinsGTAGCACTC (p.Val696=)
n.1407_1415delinsGTAGCACTC
n.888_896delinsGTAGCACTC
c.5587_5595delinsGTAGCACTC (p.Val1863=)
c.1911_1919delinsGTAGCACTC
c.2098_2106delinsGTAGCACTC (p.Val700=)
c.*5307_*5315delinsGTAGCACTC (n.*5307_*5315delinsGTAGCACTC)
c.*38_*46delinsGTAGCACTC (n.*38_*46delinsGTAGCACTC)
c.454_462delinsGTAGCACTC (p.Val152=)
c.997_1005delinsGTAGCACTC (p.Val333=)
c.223_231delinsGTAGCACTC (p.Val75=)
n.5660_5668delinsGTAGCACTC
n.5701_5709delinsGTAGCACTC
17g.43045739A=CA2260761080BRCA1c.5528T= (p.Leu1843=)
c.5531T= (p.Leu1844=)
c.5405T= (p.Leu1802=)
c.5525T= (p.Leu1842=)
c.5453T= (p.Leu1818=)
c.2219T= (p.Leu740=)
c.2081T= (p.Leu694=)
c.4643T= (p.Leu1548=)
c.5408T= (p.Leu1803=)
c.5597T= (p.Leu1866=)
c.5390T= (p.Leu1797=)
c.2093T= (p.Leu698=)
n.1414T=
n.895T=
c.5594T= (p.Leu1865=)
c.1918T=
c.2105T= (p.Leu702=)
c.*5314T= (n.*5314T=)
c.*45T= (n.*45T=)
c.461T= (p.Leu154=)
c.1004T= (p.Leu335=)
c.230T= (p.Leu77=)
n.5667T=
n.5708T=
17g.43045739A>CCA003699BRCA1c.5528T>G (p.Leu1843Arg)
c.5531T>G (p.Leu1844Arg)
c.5405T>G (p.Leu1802Arg)
c.5525T>G (p.Leu1842Arg)
c.5453T>G (p.Leu1818Arg)
c.2219T>G (p.Leu740Arg)
c.2081T>G (p.Leu694Arg)
c.4643T>G (p.Leu1548Arg)
c.5408T>G (p.Leu1803Arg)
c.5597T>G (p.Leu1866Arg)
c.5390T>G (p.Leu1797Arg)
c.2093T>G (p.Leu698Arg)
n.1414T>G
n.895T>G
c.5594T>G (p.Leu1865Arg)
c.1918T>G
c.2105T>G (p.Leu702Arg)
c.*5314T>G (n.*5314T>G)
c.*45T>G (n.*45T>G)
c.461T>G (p.Leu154Arg)
c.1004T>G (p.Leu335Arg)
c.230T>G (p.Leu77Arg)
n.5667T>G
n.5708T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045739A>GCA055255BRCA1c.5528T>C (p.Leu1843Pro)
c.5531T>C (p.Leu1844Pro)
c.5405T>C (p.Leu1802Pro)
c.5525T>C (p.Leu1842Pro)
c.5453T>C (p.Leu1818Pro)
c.2219T>C (p.Leu740Pro)
c.2081T>C (p.Leu694Pro)
c.4643T>C (p.Leu1548Pro)
c.5408T>C (p.Leu1803Pro)
c.5597T>C (p.Leu1866Pro)
c.5390T>C (p.Leu1797Pro)
c.2093T>C (p.Leu698Pro)
n.1414T>C
n.895T>C
c.5594T>C (p.Leu1865Pro)
c.1918T>C
c.2105T>C (p.Leu702Pro)
c.*5314T>C (n.*5314T>C)
c.*45T>C (n.*45T>C)
c.461T>C (p.Leu154Pro)
c.1004T>C (p.Leu335Pro)
c.230T>C (p.Leu77Pro)
n.5667T>C
n.5708T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045739A>TCA10590258BRCA1c.5528T>A (p.Leu1843His)
c.5531T>A (p.Leu1844His)
c.5405T>A (p.Leu1802His)
c.5525T>A (p.Leu1842His)
c.5453T>A (p.Leu1818His)
c.2219T>A (p.Leu740His)
c.2081T>A (p.Leu694His)
c.4643T>A (p.Leu1548His)
c.5408T>A (p.Leu1803His)
c.5597T>A (p.Leu1866His)
c.5390T>A (p.Leu1797His)
c.2093T>A (p.Leu698His)
n.1414T>A
n.895T>A
c.5594T>A (p.Leu1865His)
c.1918T>A
c.2105T>A (p.Leu702His)
c.*5314T>A (n.*5314T>A)
c.*45T>A (n.*45T>A)
c.461T>A (p.Leu154His)
c.1004T>A (p.Leu335His)
c.230T>A (p.Leu77His)
n.5667T>A
n.5708T>A
 ClinVar dbSNP gnomAD v4
17g.43045740_43045747delCA10585905BRCA1c.5521_5528del (p.Val1841LeufsTer?)
c.5524_5531del (p.Val1842LeufsTer?)
c.5398_5405del (p.Val1800LeufsTer?)
c.5518_5525del (p.Val1840LeufsTer?)
c.5446_5453del (p.Val1816LeufsTer?)
c.2212_2219del (p.Val738LeufsTer?)
c.2074_2081del (p.Val692LeufsTer?)
c.4636_4643del (p.Val1546LeufsTer?)
c.5401_5408del (p.Val1801LeufsTer?)
c.5590_5597del (p.Val1864LeufsTer?)
c.5383_5390del (p.Val1795LeufsTer?)
c.2086_2093del (p.Val696LeufsTer?)
n.1407_1414del
n.888_895del
c.5587_5594del (p.Val1863LeufsTer?)
c.1911_1918del
c.2098_2105del (p.Val700LeufsTer?)
c.*5307_*5314del (n.*5307_*5314del)
c.*38_*45del (n.*38_*45del)
c.454_461del (p.Val152LeufsTer?)
c.997_1004del (p.Val333LeufsTer?)
c.223_230del (p.Val75LeufsTer?)
n.5660_5667del
n.5701_5708del
 ClinVar dbSNP
17g.43045740delCA2499224340BRCA1c.5527del (p.Leu1843SerfsTer11)
c.5530del (p.Leu1844SerfsTer11)
c.5404del (p.Leu1802SerfsTer11)
c.5524del (p.Leu1842SerfsTer11)
c.5452del (p.Leu1818SerfsTer11)
c.2218del (p.Leu740SerfsTer11)
c.2080del (p.Leu694SerfsTer11)
c.4642del (p.Leu1548SerfsTer11)
c.5407del (p.Leu1803SerfsTer11)
c.5596del (p.Leu1866SerfsTer11)
c.5389del (p.Leu1797SerfsTer11)
c.2092del (p.Leu698SerfsTer11)
n.1413del
n.894del
c.5593del (p.Leu1865SerfsTer11)
c.1917del
c.2104del (p.Leu702SerfsTer11)
c.*5313del (n.*5313del)
c.*44del (n.*44del)
c.460del (p.Leu154SerfsTer11)
c.1003del (p.Leu335SerfsTer11)
c.229del (p.Leu77SerfsTer11)
n.5666del
n.5707del
 ClinVar
17g.43045740G>ACA10590259BRCA1c.5527C>T (p.Leu1843Phe)
c.5530C>T (p.Leu1844Phe)
c.5404C>T (p.Leu1802Phe)
c.5524C>T (p.Leu1842Phe)
c.5452C>T (p.Leu1818Phe)
c.2218C>T (p.Leu740Phe)
c.2080C>T (p.Leu694Phe)
c.4642C>T (p.Leu1548Phe)
c.5407C>T (p.Leu1803Phe)
c.5596C>T (p.Leu1866Phe)
c.5389C>T (p.Leu1797Phe)
c.2092C>T (p.Leu698Phe)
n.1413C>T
n.894C>T
c.5593C>T (p.Leu1865Phe)
c.1917C>T
c.2104C>T (p.Leu702Phe)
c.*5313C>T (n.*5313C>T)
c.*44C>T (n.*44C>T)
c.460C>T (p.Leu154Phe)
c.1003C>T (p.Leu335Phe)
c.229C>T (p.Leu77Phe)
n.5666C>T
n.5707C>T
 ClinVar dbSNP
17g.43045740G>CCA10590260BRCA1c.5527C>G (p.Leu1843Val)
c.5530C>G (p.Leu1844Val)
c.5404C>G (p.Leu1802Val)
c.5524C>G (p.Leu1842Val)
c.5452C>G (p.Leu1818Val)
c.2218C>G (p.Leu740Val)
c.2080C>G (p.Leu694Val)
c.4642C>G (p.Leu1548Val)
c.5407C>G (p.Leu1803Val)
c.5596C>G (p.Leu1866Val)
c.5389C>G (p.Leu1797Val)
c.2092C>G (p.Leu698Val)
n.1413C>G
n.894C>G
c.5593C>G (p.Leu1865Val)
c.1917C>G
c.2104C>G (p.Leu702Val)
c.*5313C>G (n.*5313C>G)
c.*44C>G (n.*44C>G)
c.460C>G (p.Leu154Val)
c.1003C>G (p.Leu335Val)
c.229C>G (p.Leu77Val)
n.5666C>G
n.5707C>G
 ClinVar dbSNP
17g.43045740G=CA2260761082BRCA1c.5527C= (p.Leu1843=)
c.5530C= (p.Leu1844=)
c.5404C= (p.Leu1802=)
c.5524C= (p.Leu1842=)
c.5452C= (p.Leu1818=)
c.2218C= (p.Leu740=)
c.2080C= (p.Leu694=)
c.4642C= (p.Leu1548=)
c.5407C= (p.Leu1803=)
c.5596C= (p.Leu1866=)
c.5389C= (p.Leu1797=)
c.2092C= (p.Leu698=)
n.1413C=
n.894C=
c.5593C= (p.Leu1865=)
c.1917C=
c.2104C= (p.Leu702=)
c.*5313C= (n.*5313C=)
c.*44C= (n.*44C=)
c.460C= (p.Leu154=)
c.1003C= (p.Leu335=)
c.229C= (p.Leu77=)
n.5666C=
n.5707C=
17g.43045740G>TCA10590261BRCA1c.5527C>A (p.Leu1843Ile)
c.5530C>A (p.Leu1844Ile)
c.5404C>A (p.Leu1802Ile)
c.5524C>A (p.Leu1842Ile)
c.5452C>A (p.Leu1818Ile)
c.2218C>A (p.Leu740Ile)
c.2080C>A (p.Leu694Ile)
c.4642C>A (p.Leu1548Ile)
c.5407C>A (p.Leu1803Ile)
c.5596C>A (p.Leu1866Ile)
c.5389C>A (p.Leu1797Ile)
c.2092C>A (p.Leu698Ile)
n.1413C>A
n.894C>A
c.5593C>A (p.Leu1865Ile)
c.1917C>A
c.2104C>A (p.Leu702Ile)
c.*5313C>A (n.*5313C>A)
c.*44C>A (n.*44C>A)
c.460C>A (p.Leu154Ile)
c.1003C>A (p.Leu335Ile)
c.229C>A (p.Leu77Ile)
n.5666C>A
n.5707C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045740_43045741delinsGTCA2260761081BRCA1c.5526_5527delinsAC (p.Ala1842=)
c.5529_5530delinsAC (p.Ala1843=)
c.5403_5404delinsAC (p.Ala1801=)
c.5523_5524delinsAC (p.Ala1841=)
c.5451_5452delinsAC (p.Ala1817=)
c.2217_2218delinsAC (p.Ala739=)
c.2079_2080delinsAC (p.Ala693=)
c.4641_4642delinsAC (p.Ala1547=)
c.5406_5407delinsAC (p.Ala1802=)
c.5595_5596delinsAC (p.Ala1865=)
c.5388_5389delinsAC (p.Ala1796=)
c.2091_2092delinsAC (p.Ala697=)
n.1412_1413delinsAC
n.893_894delinsAC
c.5592_5593delinsAC (p.Ala1864=)
c.1916_1917delinsAC
c.2103_2104delinsAC (p.Ala701=)
c.*5312_*5313delinsAC (n.*5312_*5313delinsAC)
c.*43_*44delinsAC (n.*43_*44delinsAC)
c.459_460delinsAC (p.Ala153=)
c.1002_1003delinsAC (p.Ala334=)
c.228_229delinsAC (p.Ala76=)
n.5665_5666delinsAC
n.5706_5707delinsAC
17g.43045740_43045741delinsTGCA645509524BRCA1c.5526_5527delinsCA (p.Leu1843Ile)
c.5529_5530delinsCA (p.Leu1844Ile)
c.5403_5404delinsCA (p.Leu1802Ile)
c.5523_5524delinsCA (p.Leu1842Ile)
c.5451_5452delinsCA (p.Leu1818Ile)
c.2217_2218delinsCA (p.Leu740Ile)
c.2079_2080delinsCA (p.Leu694Ile)
c.4641_4642delinsCA (p.Leu1548Ile)
c.5406_5407delinsCA (p.Leu1803Ile)
c.5595_5596delinsCA (p.Leu1866Ile)
c.5388_5389delinsCA (p.Leu1797Ile)
c.2091_2092delinsCA (p.Leu698Ile)
n.1412_1413delinsCA
n.893_894delinsCA
c.5592_5593delinsCA (p.Leu1865Ile)
c.1916_1917delinsCA
c.2103_2104delinsCA (p.Leu702Ile)
c.*5312_*5313delinsCA (n.*5312_*5313delinsCA)
c.*43_*44delinsCA (n.*43_*44delinsCA)
c.459_460delinsCA (p.Leu154Ile)
c.1002_1003delinsCA (p.Leu335Ile)
c.228_229delinsCA (p.Leu77Ile)
n.5665_5666delinsCA
n.5706_5707delinsCA
 ClinVar dbSNP
17g.43045741T>ACA500142893BRCA1c.5526A>T (p.Ala1842=)
c.5529A>T (p.Ala1843=)
c.5403A>T (p.Ala1801=)
c.5523A>T (p.Ala1841=)
c.5451A>T (p.Ala1817=)
c.2217A>T (p.Ala739=)
c.2079A>T (p.Ala693=)
c.4641A>T (p.Ala1547=)
c.5406A>T (p.Ala1802=)
c.5595A>T (p.Ala1865=)
c.5388A>T (p.Ala1796=)
c.2091A>T (p.Ala697=)
n.1412A>T
n.893A>T
c.5592A>T (p.Ala1864=)
c.1916A>T
c.2103A>T (p.Ala701=)
c.*5312A>T (n.*5312A>T)
c.*43A>T (n.*43A>T)
c.459A>T (p.Ala153=)
c.1002A>T (p.Ala334=)
c.228A>T (p.Ala76=)
n.5665A>T
n.5706A>T
 ClinVar dbSNP
17g.43045741T>CCA500142894BRCA1c.5526A>G (p.Ala1842=)
c.5529A>G (p.Ala1843=)
c.5403A>G (p.Ala1801=)
c.5523A>G (p.Ala1841=)
c.5451A>G (p.Ala1817=)
c.2217A>G (p.Ala739=)
c.2079A>G (p.Ala693=)
c.4641A>G (p.Ala1547=)
c.5406A>G (p.Ala1802=)
c.5595A>G (p.Ala1865=)
c.5388A>G (p.Ala1796=)
c.2091A>G (p.Ala697=)
n.1412A>G
n.893A>G
c.5592A>G (p.Ala1864=)
c.1916A>G
c.2103A>G (p.Ala701=)
c.*5312A>G (n.*5312A>G)
c.*43A>G (n.*43A>G)
c.459A>G (p.Ala153=)
c.1002A>G (p.Ala334=)
c.228A>G (p.Ala76=)
n.5665A>G
n.5706A>G
 ClinVar dbSNP
17g.43045741T>GCA500142895BRCA1c.5526A>C (p.Ala1842=)
c.5529A>C (p.Ala1843=)
c.5403A>C (p.Ala1801=)
c.5523A>C (p.Ala1841=)
c.5451A>C (p.Ala1817=)
c.2217A>C (p.Ala739=)
c.2079A>C (p.Ala693=)
c.4641A>C (p.Ala1547=)
c.5406A>C (p.Ala1802=)
c.5595A>C (p.Ala1865=)
c.5388A>C (p.Ala1796=)
c.2091A>C (p.Ala697=)
n.1412A>C
n.893A>C
c.5592A>C (p.Ala1864=)
c.1916A>C
c.2103A>C (p.Ala701=)
c.*5312A>C (n.*5312A>C)
c.*43A>C (n.*43A>C)
c.459A>C (p.Ala153=)
c.1002A>C (p.Ala334=)
c.228A>C (p.Ala76=)
n.5665A>C
n.5706A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045741T=CA2260761083BRCA1c.5526A= (p.Ala1842=)
c.5529A= (p.Ala1843=)
c.5403A= (p.Ala1801=)
c.5523A= (p.Ala1841=)
c.5451A= (p.Ala1817=)
c.2217A= (p.Ala739=)
c.2079A= (p.Ala693=)
c.4641A= (p.Ala1547=)
c.5406A= (p.Ala1802=)
c.5595A= (p.Ala1865=)
c.5388A= (p.Ala1796=)
c.2091A= (p.Ala697=)
n.1412A=
n.893A=
c.5592A= (p.Ala1864=)
c.1916A=
c.2103A= (p.Ala701=)
c.*5312A= (n.*5312A=)
c.*43A= (n.*43A=)
c.459A= (p.Ala153=)
c.1002A= (p.Ala334=)
c.228A= (p.Ala76=)
n.5665A=
n.5706A=
17g.43045742G>ACA10590262BRCA1c.5525C>T (p.Ala1842Val)
c.5528C>T (p.Ala1843Val)
c.5402C>T (p.Ala1801Val)
c.5522C>T (p.Ala1841Val)
c.5450C>T (p.Ala1817Val)
c.2216C>T (p.Ala739Val)
c.2078C>T (p.Ala693Val)
c.4640C>T (p.Ala1547Val)
c.5405C>T (p.Ala1802Val)
c.5594C>T (p.Ala1865Val)
c.5387C>T (p.Ala1796Val)
c.2090C>T (p.Ala697Val)
n.1411C>T
n.892C>T
c.5591C>T (p.Ala1864Val)
c.1915C>T
c.2102C>T (p.Ala701Val)
c.*5311C>T (n.*5311C>T)
c.*42C>T (n.*42C>T)
c.458C>T (p.Ala153Val)
c.1001C>T (p.Ala334Val)
c.227C>T (p.Ala76Val)
n.5664C>T
n.5705C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045742G>CCA10590263BRCA1c.5525C>G (p.Ala1842Gly)
c.5528C>G (p.Ala1843Gly)
c.5402C>G (p.Ala1801Gly)
c.5522C>G (p.Ala1841Gly)
c.5450C>G (p.Ala1817Gly)
c.2216C>G (p.Ala739Gly)
c.2078C>G (p.Ala693Gly)
c.4640C>G (p.Ala1547Gly)
c.5405C>G (p.Ala1802Gly)
c.5594C>G (p.Ala1865Gly)
c.5387C>G (p.Ala1796Gly)
c.2090C>G (p.Ala697Gly)
n.1411C>G
n.892C>G
c.5591C>G (p.Ala1864Gly)
c.1915C>G
c.2102C>G (p.Ala701Gly)
c.*5311C>G (n.*5311C>G)
c.*42C>G (n.*42C>G)
c.458C>G (p.Ala153Gly)
c.1001C>G (p.Ala334Gly)
c.227C>G (p.Ala76Gly)
n.5664C>G
n.5705C>G
 ClinVar dbSNP
17g.43045742G=CA2260761084BRCA1c.5525C= (p.Ala1842=)
c.5528C= (p.Ala1843=)
c.5402C= (p.Ala1801=)
c.5522C= (p.Ala1841=)
c.5450C= (p.Ala1817=)
c.2216C= (p.Ala739=)
c.2078C= (p.Ala693=)
c.4640C= (p.Ala1547=)
c.5405C= (p.Ala1802=)
c.5594C= (p.Ala1865=)
c.5387C= (p.Ala1796=)
c.2090C= (p.Ala697=)
n.1411C=
n.892C=
c.5591C= (p.Ala1864=)
c.1915C=
c.2102C= (p.Ala701=)
c.*5311C= (n.*5311C=)
c.*42C= (n.*42C=)
c.458C= (p.Ala153=)
c.1001C= (p.Ala334=)
c.227C= (p.Ala76=)
n.5664C=
n.5705C=
17g.43045742G>TCA003698BRCA1c.5525C>A (p.Ala1842Glu)
c.5528C>A (p.Ala1843Glu)
c.5402C>A (p.Ala1801Glu)
c.5522C>A (p.Ala1841Glu)
c.5450C>A (p.Ala1817Glu)
c.2216C>A (p.Ala739Glu)
c.2078C>A (p.Ala693Glu)
c.4640C>A (p.Ala1547Glu)
c.5405C>A (p.Ala1802Glu)
c.5594C>A (p.Ala1865Glu)
c.5387C>A (p.Ala1796Glu)
c.2090C>A (p.Ala697Glu)
n.1411C>A
n.892C>A
c.5591C>A (p.Ala1864Glu)
c.1915C>A
c.2102C>A (p.Ala701Glu)
c.*5311C>A (n.*5311C>A)
c.*42C>A (n.*42C>A)
c.458C>A (p.Ala153Glu)
c.1001C>A (p.Ala334Glu)
c.227C>A (p.Ala76Glu)
n.5664C>A
n.5705C>A
 ClinVar dbSNP
17g.43045743C>ACA10590264BRCA1c.5524G>T (p.Ala1842Ser)
c.5527G>T (p.Ala1843Ser)
c.5401G>T (p.Ala1801Ser)
c.5521G>T (p.Ala1841Ser)
c.5449G>T (p.Ala1817Ser)
c.2215G>T (p.Ala739Ser)
c.2077G>T (p.Ala693Ser)
c.4639G>T (p.Ala1547Ser)
c.5404G>T (p.Ala1802Ser)
c.5593G>T (p.Ala1865Ser)
c.5386G>T (p.Ala1796Ser)
c.2089G>T (p.Ala697Ser)
n.1410G>T
n.891G>T
c.5590G>T (p.Ala1864Ser)
c.1914G>T
c.2101G>T (p.Ala701Ser)
c.*5310G>T (n.*5310G>T)
c.*41G>T (n.*41G>T)
c.457G>T (p.Ala153Ser)
c.1000G>T (p.Ala334Ser)
c.226G>T (p.Ala76Ser)
n.5663G>T
n.5704G>T
 ClinVar dbSNP gnomAD v4
17g.43045743C=CA2260761085BRCA1c.5524G= (p.Ala1842=)
c.5527G= (p.Ala1843=)
c.5401G= (p.Ala1801=)
c.5521G= (p.Ala1841=)
c.5449G= (p.Ala1817=)
c.2215G= (p.Ala739=)
c.2077G= (p.Ala693=)
c.4639G= (p.Ala1547=)
c.5404G= (p.Ala1802=)
c.5593G= (p.Ala1865=)
c.5386G= (p.Ala1796=)
c.2089G= (p.Ala697=)
n.1410G=
n.891G=
c.5590G= (p.Ala1864=)
c.1914G=
c.2101G= (p.Ala701=)
c.*5310G= (n.*5310G=)
c.*41G= (n.*41G=)
c.457G= (p.Ala153=)
c.1000G= (p.Ala334=)
c.226G= (p.Ala76=)
n.5663G=
n.5704G=
17g.43045743C>GCA003697BRCA1c.5524G>C (p.Ala1842Pro)
c.5527G>C (p.Ala1843Pro)
c.5401G>C (p.Ala1801Pro)
c.5521G>C (p.Ala1841Pro)
c.5449G>C (p.Ala1817Pro)
c.2215G>C (p.Ala739Pro)
c.2077G>C (p.Ala693Pro)
c.4639G>C (p.Ala1547Pro)
c.5404G>C (p.Ala1802Pro)
c.5593G>C (p.Ala1865Pro)
c.5386G>C (p.Ala1796Pro)
c.2089G>C (p.Ala697Pro)
n.1410G>C
n.891G>C
c.5590G>C (p.Ala1864Pro)
c.1914G>C
c.2101G>C (p.Ala701Pro)
c.*5310G>C (n.*5310G>C)
c.*41G>C (n.*41G>C)
c.457G>C (p.Ala153Pro)
c.1000G>C (p.Ala334Pro)
c.226G>C (p.Ala76Pro)
n.5663G>C
n.5704G>C
 ClinVar dbSNP gnomAD v4
17g.43045743C>TCA10590265BRCA1c.5524G>A (p.Ala1842Thr)
c.5527G>A (p.Ala1843Thr)
c.5401G>A (p.Ala1801Thr)
c.5521G>A (p.Ala1841Thr)
c.5449G>A (p.Ala1817Thr)
c.2215G>A (p.Ala739Thr)
c.2077G>A (p.Ala693Thr)
c.4639G>A (p.Ala1547Thr)
c.5404G>A (p.Ala1802Thr)
c.5593G>A (p.Ala1865Thr)
c.5386G>A (p.Ala1796Thr)
c.2089G>A (p.Ala697Thr)
n.1410G>A
n.891G>A
c.5590G>A (p.Ala1864Thr)
c.1914G>A
c.2101G>A (p.Ala701Thr)
c.*5310G>A (n.*5310G>A)
c.*41G>A (n.*41G>A)
c.457G>A (p.Ala153Thr)
c.1000G>A (p.Ala334Thr)
c.226G>A (p.Ala76Thr)
n.5663G>A
n.5704G>A
 ClinVar dbSNP
17g.43045744T>ACA500142898BRCA1c.5523A>T (p.Val1841=)
c.5526A>T (p.Val1842=)
c.5400A>T (p.Val1800=)
c.5520A>T (p.Val1840=)
c.5448A>T (p.Val1816=)
c.2214A>T (p.Val738=)
c.2076A>T (p.Val692=)
c.4638A>T (p.Val1546=)
c.5403A>T (p.Val1801=)
c.5592A>T (p.Val1864=)
c.5385A>T (p.Val1795=)
c.2088A>T (p.Val696=)
n.1409A>T
n.890A>T
c.5589A>T (p.Val1863=)
c.1913A>T
c.2100A>T (p.Val700=)
c.*5309A>T (n.*5309A>T)
c.*40A>T (n.*40A>T)
c.456A>T (p.Val152=)
c.999A>T (p.Val333=)
c.225A>T (p.Val75=)
n.5662A>T
n.5703A>T
 ClinVar dbSNP
17g.43045744T>CCA500142896BRCA1c.5523A>G (p.Val1841=)
c.5526A>G (p.Val1842=)
c.5400A>G (p.Val1800=)
c.5520A>G (p.Val1840=)
c.5448A>G (p.Val1816=)
c.2214A>G (p.Val738=)
c.2076A>G (p.Val692=)
c.4638A>G (p.Val1546=)
c.5403A>G (p.Val1801=)
c.5592A>G (p.Val1864=)
c.5385A>G (p.Val1795=)
c.2088A>G (p.Val696=)
n.1409A>G
n.890A>G
c.5589A>G (p.Val1863=)
c.1913A>G
c.2100A>G (p.Val700=)
c.*5309A>G (n.*5309A>G)
c.*40A>G (n.*40A>G)
c.456A>G (p.Val152=)
c.999A>G (p.Val333=)
c.225A>G (p.Val75=)
n.5662A>G
n.5703A>G
 ClinVar dbSNP
17g.43045744T>GCA500142897BRCA1c.5523A>C (p.Val1841=)
c.5526A>C (p.Val1842=)
c.5400A>C (p.Val1800=)
c.5520A>C (p.Val1840=)
c.5448A>C (p.Val1816=)
c.2214A>C (p.Val738=)
c.2076A>C (p.Val692=)
c.4638A>C (p.Val1546=)
c.5403A>C (p.Val1801=)
c.5592A>C (p.Val1864=)
c.5385A>C (p.Val1795=)
c.2088A>C (p.Val696=)
n.1409A>C
n.890A>C
c.5589A>C (p.Val1863=)
c.1913A>C
c.2100A>C (p.Val700=)
c.*5309A>C (n.*5309A>C)
c.*40A>C (n.*40A>C)
c.456A>C (p.Val152=)
c.999A>C (p.Val333=)
c.225A>C (p.Val75=)
n.5662A>C
n.5703A>C
 ClinVar dbSNP
17g.43045744T=CA2260761086BRCA1c.5523A= (p.Val1841=)
c.5526A= (p.Val1842=)
c.5400A= (p.Val1800=)
c.5520A= (p.Val1840=)
c.5448A= (p.Val1816=)
c.2214A= (p.Val738=)
c.2076A= (p.Val692=)
c.4638A= (p.Val1546=)
c.5403A= (p.Val1801=)
c.5592A= (p.Val1864=)
c.5385A= (p.Val1795=)
c.2088A= (p.Val696=)
n.1409A=
n.890A=
c.5589A= (p.Val1863=)
c.1913A=
c.2100A= (p.Val700=)
c.*5309A= (n.*5309A=)
c.*40A= (n.*40A=)
c.456A= (p.Val152=)
c.999A= (p.Val333=)
c.225A= (p.Val75=)
n.5662A=
n.5703A=
17g.43045744_43045745delinsTACA2260761087BRCA1c.5522_5523delinsTA (p.Val1841=)
c.5525_5526delinsTA (p.Val1842=)
c.5399_5400delinsTA (p.Val1800=)
c.5519_5520delinsTA (p.Val1840=)
c.5447_5448delinsTA (p.Val1816=)
c.2213_2214delinsTA (p.Val738=)
c.2075_2076delinsTA (p.Val692=)
c.4637_4638delinsTA (p.Val1546=)
c.5402_5403delinsTA (p.Val1801=)
c.5591_5592delinsTA (p.Val1864=)
c.5384_5385delinsTA (p.Val1795=)
c.2087_2088delinsTA (p.Val696=)
n.1408_1409delinsTA
n.889_890delinsTA
c.5588_5589delinsTA (p.Val1863=)
c.1912_1913delinsTA
c.2099_2100delinsTA (p.Val700=)
c.*5308_*5309delinsTA (n.*5308_*5309delinsTA)
c.*39_*40delinsTA (n.*39_*40delinsTA)
c.455_456delinsTA (p.Val152=)
c.998_999delinsTA (p.Val333=)
c.224_225delinsTA (p.Val75=)
n.5661_5662delinsTA
n.5702_5703delinsTA
17g.43045744_43045770delinsACTCTACCAGTGCA2573153991BRCA1c.5497_5523delinsCACTGGTAGAGT (p.Thr1833HisfsTer3)
c.5500_5526delinsCACTGGTAGAGT (p.Thr1834HisfsTer3)
c.5374_5400delinsCACTGGTAGAGT (p.Thr1792HisfsTer3)
c.5494_5520delinsCACTGGTAGAGT (p.Thr1832HisfsTer3)
c.5422_5448delinsCACTGGTAGAGT (p.Thr1808HisfsTer3)
c.2188_2214delinsCACTGGTAGAGT (p.Thr730HisfsTer3)
c.2050_2076delinsCACTGGTAGAGT (p.Thr684HisfsTer3)
c.4612_4638delinsCACTGGTAGAGT (p.Thr1538HisfsTer3)
c.5377_5403delinsCACTGGTAGAGT (p.Thr1793HisfsTer3)
c.5566_5592delinsCACTGGTAGAGT (p.Thr1856HisfsTer3)
c.5359_5385delinsCACTGGTAGAGT (p.Thr1787HisfsTer3)
c.2062_2088delinsCACTGGTAGAGT (p.Thr688HisfsTer3)
n.1383_1409delinsCACTGGTAGAGT
n.864_890delinsCACTGGTAGAGT
c.5563_5589delinsCACTGGTAGAGT (p.Thr1855HisfsTer3)
c.1887_1913delinsCACTGGTAGAGT
c.2074_2100delinsCACTGGTAGAGT (p.Thr692HisfsTer3)
c.*5283_*5309delinsCACTGGTAGAGT (n.*5283_*5309delinsCACTGGTAGAGT)
c.*14_*40delinsCACTGGTAGAGT (n.*14_*40delinsCACTGGTAGAGT)
c.430_456delinsCACTGGTAGAGT (p.Thr144HisfsTer3)
c.973_999delinsCACTGGTAGAGT (p.Thr325HisfsTer3)
c.199_225delinsCACTGGTAGAGT (p.Thr67HisfsTer3)
n.5636_5662delinsCACTGGTAGAGT
n.5677_5703delinsCACTGGTAGAGT
 ClinVar dbSNP
17g.43045745delCA348508BRCA1c.5522del (p.Val1841GlufsTer13)
c.5525del (p.Val1842GlufsTer13)
c.5399del (p.Val1800GlufsTer13)
c.5519del (p.Val1840GlufsTer13)
c.5447del (p.Val1816GlufsTer13)
c.2213del (p.Val738GlufsTer13)
c.2075del (p.Val692GlufsTer13)
c.4637del (p.Val1546GlufsTer13)
c.5402del (p.Val1801GlufsTer13)
c.5591del (p.Val1864GlufsTer13)
c.5384del (p.Val1795GlufsTer13)
c.2087del (p.Val696GlufsTer13)
n.1408del
n.889del
c.5588del (p.Val1863GlufsTer13)
c.1912del
c.2099del (p.Val700GlufsTer13)
c.*5308del (n.*5308del)
c.*39del (n.*39del)
c.455del (p.Val152GlufsTer13)
c.998del (p.Val333GlufsTer13)
c.224del (p.Val75GlufsTer13)
n.5661del
n.5702del
 ClinVar dbSNP
17g.43045745A=CA2260761088BRCA1c.5522T= (p.Val1841=)
c.5525T= (p.Val1842=)
c.5399T= (p.Val1800=)
c.5519T= (p.Val1840=)
c.5447T= (p.Val1816=)
c.2213T= (p.Val738=)
c.2075T= (p.Val692=)
c.4637T= (p.Val1546=)
c.5402T= (p.Val1801=)
c.5591T= (p.Val1864=)
c.5384T= (p.Val1795=)
c.2087T= (p.Val696=)
n.1408T=
n.889T=
c.5588T= (p.Val1863=)
c.1912T=
c.2099T= (p.Val700=)
c.*5308T= (n.*5308T=)
c.*39T= (n.*39T=)
c.455T= (p.Val152=)
c.998T= (p.Val333=)
c.224T= (p.Val75=)
n.5661T=
n.5702T=
17g.43045745A>CCA10590266BRCA1c.5522T>G (p.Val1841Gly)
c.5525T>G (p.Val1842Gly)
c.5399T>G (p.Val1800Gly)
c.5519T>G (p.Val1840Gly)
c.5447T>G (p.Val1816Gly)
c.2213T>G (p.Val738Gly)
c.2075T>G (p.Val692Gly)
c.4637T>G (p.Val1546Gly)
c.5402T>G (p.Val1801Gly)
c.5591T>G (p.Val1864Gly)
c.5384T>G (p.Val1795Gly)
c.2087T>G (p.Val696Gly)
n.1408T>G
n.889T>G
c.5588T>G (p.Val1863Gly)
c.1912T>G
c.2099T>G (p.Val700Gly)
c.*5308T>G (n.*5308T>G)
c.*39T>G (n.*39T>G)
c.455T>G (p.Val152Gly)
c.998T>G (p.Val333Gly)
c.224T>G (p.Val75Gly)
n.5661T>G
n.5702T>G
 ClinVar dbSNP
17g.43045745A>GCA10590267BRCA1c.5522T>C (p.Val1841Ala)
c.5525T>C (p.Val1842Ala)
c.5399T>C (p.Val1800Ala)
c.5519T>C (p.Val1840Ala)
c.5447T>C (p.Val1816Ala)
c.2213T>C (p.Val738Ala)
c.2075T>C (p.Val692Ala)
c.4637T>C (p.Val1546Ala)
c.5402T>C (p.Val1801Ala)
c.5591T>C (p.Val1864Ala)
c.5384T>C (p.Val1795Ala)
c.2087T>C (p.Val696Ala)
n.1408T>C
n.889T>C
c.5588T>C (p.Val1863Ala)
c.1912T>C
c.2099T>C (p.Val700Ala)
c.*5308T>C (n.*5308T>C)
c.*39T>C (n.*39T>C)
c.455T>C (p.Val152Ala)
c.998T>C (p.Val333Ala)
c.224T>C (p.Val75Ala)
n.5661T>C
n.5702T>C
 ClinVar dbSNP
17g.43045745A>TCA10590268BRCA1c.5522T>A (p.Val1841Glu)
c.5525T>A (p.Val1842Glu)
c.5399T>A (p.Val1800Glu)
c.5519T>A (p.Val1840Glu)
c.5447T>A (p.Val1816Glu)
c.2213T>A (p.Val738Glu)
c.2075T>A (p.Val692Glu)
c.4637T>A (p.Val1546Glu)
c.5402T>A (p.Val1801Glu)
c.5591T>A (p.Val1864Glu)
c.5384T>A (p.Val1795Glu)
c.2087T>A (p.Val696Glu)
n.1408T>A
n.889T>A
c.5588T>A (p.Val1863Glu)
c.1912T>A
c.2099T>A (p.Val700Glu)
c.*5308T>A (n.*5308T>A)
c.*39T>A (n.*39T>A)
c.455T>A (p.Val152Glu)
c.998T>A (p.Val333Glu)
c.224T>A (p.Val75Glu)
n.5661T>A
n.5702T>A
 ClinVar dbSNP
17g.43045747_43045748delCA2695226101BRCA1c.5521_5522del (p.Val1841SerfsTer?)
c.5524_5525del (p.Val1842SerfsTer?)
c.5398_5399del (p.Val1800SerfsTer?)
c.5518_5519del (p.Val1840SerfsTer?)
c.5446_5447del (p.Val1816SerfsTer?)
c.2212_2213del (p.Val738SerfsTer?)
c.2074_2075del (p.Val692SerfsTer?)
c.4636_4637del (p.Val1546SerfsTer?)
c.5401_5402del (p.Val1801SerfsTer?)
c.5590_5591del (p.Val1864SerfsTer?)
c.5383_5384del (p.Val1795SerfsTer?)
c.2086_2087del (p.Val696SerfsTer?)
n.1407_1408del
n.888_889del
c.5587_5588del (p.Val1863SerfsTer?)
c.1911_1912del
c.2098_2099del (p.Val700SerfsTer?)
c.*5307_*5308del (n.*5307_*5308del)
c.*38_*39del (n.*38_*39del)
c.454_455del (p.Val152SerfsTer?)
c.997_998del (p.Val333SerfsTer?)
c.223_224del (p.Val75SerfsTer?)
n.5660_5661del
n.5701_5702del
17g.43045746C>ACA10590269BRCA1c.5521G>T (p.Val1841Leu)
c.5524G>T (p.Val1842Leu)
c.5398G>T (p.Val1800Leu)
c.5518G>T (p.Val1840Leu)
c.5446G>T (p.Val1816Leu)
c.2212G>T (p.Val738Leu)
c.2074G>T (p.Val692Leu)
c.4636G>T (p.Val1546Leu)
c.5401G>T (p.Val1801Leu)
c.5590G>T (p.Val1864Leu)
c.5383G>T (p.Val1795Leu)
c.2086G>T (p.Val696Leu)
n.1407G>T
n.888G>T
c.5587G>T (p.Val1863Leu)
c.1911G>T
c.2098G>T (p.Val700Leu)
c.*5307G>T (n.*5307G>T)
c.*38G>T (n.*38G>T)
c.454G>T (p.Val152Leu)
c.997G>T (p.Val333Leu)
c.223G>T (p.Val75Leu)
n.5660G>T
n.5701G>T
 ClinVar dbSNP
17g.43045746C=CA2260761089BRCA1c.5521G= (p.Val1841=)
c.5524G= (p.Val1842=)
c.5398G= (p.Val1800=)
c.5518G= (p.Val1840=)
c.5446G= (p.Val1816=)
c.2212G= (p.Val738=)
c.2074G= (p.Val692=)
c.4636G= (p.Val1546=)
c.5401G= (p.Val1801=)
c.5590G= (p.Val1864=)
c.5383G= (p.Val1795=)
c.2086G= (p.Val696=)
n.1407G=
n.888G=
c.5587G= (p.Val1863=)
c.1911G=
c.2098G= (p.Val700=)
c.*5307G= (n.*5307G=)
c.*38G= (n.*38G=)
c.454G= (p.Val152=)
c.997G= (p.Val333=)
c.223G= (p.Val75=)
n.5660G=
n.5701G=
17g.43045746C>GCA10590270BRCA1c.5521G>C (p.Val1841Leu)
c.5524G>C (p.Val1842Leu)
c.5398G>C (p.Val1800Leu)
c.5518G>C (p.Val1840Leu)
c.5446G>C (p.Val1816Leu)
c.2212G>C (p.Val738Leu)
c.2074G>C (p.Val692Leu)
c.4636G>C (p.Val1546Leu)
c.5401G>C (p.Val1801Leu)
c.5590G>C (p.Val1864Leu)
c.5383G>C (p.Val1795Leu)
c.2086G>C (p.Val696Leu)
n.1407G>C
n.888G>C
c.5587G>C (p.Val1863Leu)
c.1911G>C
c.2098G>C (p.Val700Leu)
c.*5307G>C (n.*5307G>C)
c.*38G>C (n.*38G>C)
c.454G>C (p.Val152Leu)
c.997G>C (p.Val333Leu)
c.223G>C (p.Val75Leu)
n.5660G>C
n.5701G>C
 ClinVar dbSNP
17g.43045746C>TCA10590271BRCA1c.5521G>A (p.Val1841Ile)
c.5524G>A (p.Val1842Ile)
c.5398G>A (p.Val1800Ile)
c.5518G>A (p.Val1840Ile)
c.5446G>A (p.Val1816Ile)
c.2212G>A (p.Val738Ile)
c.2074G>A (p.Val692Ile)
c.4636G>A (p.Val1546Ile)
c.5401G>A (p.Val1801Ile)
c.5590G>A (p.Val1864Ile)
c.5383G>A (p.Val1795Ile)
c.2086G>A (p.Val696Ile)
n.1407G>A
n.888G>A
c.5587G>A (p.Val1863Ile)
c.1911G>A
c.2098G>A (p.Val700Ile)
c.*5307G>A (n.*5307G>A)
c.*38G>A (n.*38G>A)
c.454G>A (p.Val152Ile)
c.997G>A (p.Val333Ile)
c.223G>A (p.Val75Ile)
n.5660G>A
n.5701G>A
 ClinVar dbSNP
17g.43045750_43045763delCA2499224341BRCA1c.5508_5521del (p.Trp1836CysfsTer?)
c.5511_5524del (p.Trp1837CysfsTer?)
c.5385_5398del (p.Trp1795CysfsTer?)
c.5505_5518del (p.Trp1835CysfsTer?)
c.5433_5446del (p.Trp1811CysfsTer?)
c.2199_2212del (p.Trp733CysfsTer?)
c.2061_2074del (p.Trp687CysfsTer?)
c.4623_4636del (p.Trp1541CysfsTer?)
c.5388_5401del (p.Trp1796CysfsTer?)
c.5577_5590del (p.Trp1859CysfsTer?)
c.5370_5383del (p.Trp1790CysfsTer?)
c.2073_2086del (p.Trp691CysfsTer?)
n.1394_1407del
n.875_888del
c.5574_5587del (p.Trp1858CysfsTer?)
c.1898_1911del
c.2085_2098del (p.Trp695CysfsTer?)
c.*5294_*5307del (n.*5294_*5307del)
c.*25_*38del (n.*25_*38del)
c.441_454del (p.Trp147CysfsTer?)
c.984_997del (p.Trp328CysfsTer?)
c.210_223del (p.Trp70CysfsTer?)
n.5647_5660del
n.5688_5701del
17g.43045747A=CA2260761090BRCA1c.5520T= (p.Ser1840=)
c.5523T= (p.Ser1841=)
c.5397T= (p.Ser1799=)
c.5517T= (p.Ser1839=)
c.5445T= (p.Ser1815=)
c.2211T= (p.Ser737=)
c.2073T= (p.Ser691=)
c.4635T= (p.Ser1545=)
c.5400T= (p.Ser1800=)
c.5589T= (p.Ser1863=)
c.5382T= (p.Ser1794=)
c.2085T= (p.Ser695=)
n.1406T=
n.887T=
c.5586T= (p.Ser1862=)
c.1910T=
c.2097T= (p.Ser699=)
c.*5306T= (n.*5306T=)
c.*37T= (n.*37T=)
c.453T= (p.Ser151=)
c.996T= (p.Ser332=)
c.222T= (p.Ser74=)
n.5659T=
n.5700T=
17g.43045747A>CCA10590272BRCA1c.5520T>G (p.Ser1840Arg)
c.5523T>G (p.Ser1841Arg)
c.5397T>G (p.Ser1799Arg)
c.5517T>G (p.Ser1839Arg)
c.5445T>G (p.Ser1815Arg)
c.2211T>G (p.Ser737Arg)
c.2073T>G (p.Ser691Arg)
c.4635T>G (p.Ser1545Arg)
c.5400T>G (p.Ser1800Arg)
c.5589T>G (p.Ser1863Arg)
c.5382T>G (p.Ser1794Arg)
c.2085T>G (p.Ser695Arg)
n.1406T>G
n.887T>G
c.5586T>G (p.Ser1862Arg)
c.1910T>G
c.2097T>G (p.Ser699Arg)
c.*5306T>G (n.*5306T>G)
c.*37T>G (n.*37T>G)
c.453T>G (p.Ser151Arg)
c.996T>G (p.Ser332Arg)
c.222T>G (p.Ser74Arg)
n.5659T>G
n.5700T>G
 ClinVar dbSNP
17g.43045747A>GCA10583545BRCA1c.5520T>C (p.Ser1840=)
c.5523T>C (p.Ser1841=)
c.5397T>C (p.Ser1799=)
c.5517T>C (p.Ser1839=)
c.5445T>C (p.Ser1815=)
c.2211T>C (p.Ser737=)
c.2073T>C (p.Ser691=)
c.4635T>C (p.Ser1545=)
c.5400T>C (p.Ser1800=)
c.5589T>C (p.Ser1863=)
c.5382T>C (p.Ser1794=)
c.2085T>C (p.Ser695=)
n.1406T>C
n.887T>C
c.5586T>C (p.Ser1862=)
c.1910T>C
c.2097T>C (p.Ser699=)
c.*5306T>C (n.*5306T>C)
c.*37T>C (n.*37T>C)
c.453T>C (p.Ser151=)
c.996T>C (p.Ser332=)
c.222T>C (p.Ser74=)
n.5659T>C
n.5700T>C
 ClinVar dbSNP
17g.43045747A>TCA10590273BRCA1c.5520T>A (p.Ser1840Arg)
c.5523T>A (p.Ser1841Arg)
c.5397T>A (p.Ser1799Arg)
c.5517T>A (p.Ser1839Arg)
c.5445T>A (p.Ser1815Arg)
c.2211T>A (p.Ser737Arg)
c.2073T>A (p.Ser691Arg)
c.4635T>A (p.Ser1545Arg)
c.5400T>A (p.Ser1800Arg)
c.5589T>A (p.Ser1863Arg)
c.5382T>A (p.Ser1794Arg)
c.2085T>A (p.Ser695Arg)
n.1406T>A
n.887T>A
c.5586T>A (p.Ser1862Arg)
c.1910T>A
c.2097T>A (p.Ser699Arg)
c.*5306T>A (n.*5306T>A)
c.*37T>A (n.*37T>A)
c.453T>A (p.Ser151Arg)
c.996T>A (p.Ser332Arg)
c.222T>A (p.Ser74Arg)
n.5659T>A
n.5700T>A
 ClinVar dbSNP
17g.43045749_43045756delCA2740099746BRCA1c.5513_5520del (p.Leu1838CysfsTer?)
c.5516_5523del (p.Leu1839CysfsTer?)
c.5390_5397del (p.Leu1797CysfsTer?)
c.5510_5517del (p.Leu1837CysfsTer?)
c.5438_5445del (p.Leu1813CysfsTer?)
c.2204_2211del (p.Leu735CysfsTer?)
c.2066_2073del (p.Leu689CysfsTer?)
c.4628_4635del (p.Leu1543CysfsTer?)
c.5393_5400del (p.Leu1798CysfsTer?)
c.5582_5589del (p.Leu1861CysfsTer?)
c.5375_5382del (p.Leu1792CysfsTer?)
c.2078_2085del (p.Leu693CysfsTer?)
n.1399_1406del
n.880_887del
c.5579_5586del (p.Leu1860CysfsTer?)
c.1903_1910del
c.2090_2097del (p.Leu697CysfsTer?)
c.*5299_*5306del (n.*5299_*5306del)
c.*30_*37del (n.*30_*37del)
c.446_453del (p.Leu149CysfsTer?)
c.989_996del (p.Leu330CysfsTer?)
c.215_222del (p.Leu72CysfsTer?)
n.5652_5659del
n.5693_5700del
17g.43045748C>ACA10590274BRCA1c.5519G>T (p.Ser1840Ile)
c.5522G>T (p.Ser1841Ile)
c.5396G>T (p.Ser1799Ile)
c.5516G>T (p.Ser1839Ile)
c.5444G>T (p.Ser1815Ile)
c.2210G>T (p.Ser737Ile)
c.2072G>T (p.Ser691Ile)
c.4634G>T (p.Ser1545Ile)
c.5399G>T (p.Ser1800Ile)
c.5588G>T (p.Ser1863Ile)
c.5381G>T (p.Ser1794Ile)
c.2084G>T (p.Ser695Ile)
n.1405G>T
n.886G>T
c.5585G>T (p.Ser1862Ile)
c.1909G>T
c.2096G>T (p.Ser699Ile)
c.*5305G>T (n.*5305G>T)
c.*36G>T (n.*36G>T)
c.452G>T (p.Ser151Ile)
c.995G>T (p.Ser332Ile)
c.221G>T (p.Ser74Ile)
n.5658G>T
n.5699G>T
 ClinVar dbSNP
17g.43045748C=CA2260761091BRCA1c.5519G= (p.Ser1840=)
c.5522G= (p.Ser1841=)
c.5396G= (p.Ser1799=)
c.5516G= (p.Ser1839=)
c.5444G= (p.Ser1815=)
c.2210G= (p.Ser737=)
c.2072G= (p.Ser691=)
c.4634G= (p.Ser1545=)
c.5399G= (p.Ser1800=)
c.5588G= (p.Ser1863=)
c.5381G= (p.Ser1794=)
c.2084G= (p.Ser695=)
n.1405G=
n.886G=
c.5585G= (p.Ser1862=)
c.1909G=
c.2096G= (p.Ser699=)
c.*5305G= (n.*5305G=)
c.*36G= (n.*36G=)
c.452G= (p.Ser151=)
c.995G= (p.Ser332=)
c.221G= (p.Ser74=)
n.5658G=
n.5699G=
17g.43045748C>GCA10590275BRCA1c.5519G>C (p.Ser1840Thr)
c.5522G>C (p.Ser1841Thr)
c.5396G>C (p.Ser1799Thr)
c.5516G>C (p.Ser1839Thr)
c.5444G>C (p.Ser1815Thr)
c.2210G>C (p.Ser737Thr)
c.2072G>C (p.Ser691Thr)
c.4634G>C (p.Ser1545Thr)
c.5399G>C (p.Ser1800Thr)
c.5588G>C (p.Ser1863Thr)
c.5381G>C (p.Ser1794Thr)
c.2084G>C (p.Ser695Thr)
n.1405G>C
n.886G>C
c.5585G>C (p.Ser1862Thr)
c.1909G>C
c.2096G>C (p.Ser699Thr)
c.*5305G>C (n.*5305G>C)
c.*36G>C (n.*36G>C)
c.452G>C (p.Ser151Thr)
c.995G>C (p.Ser332Thr)
c.221G>C (p.Ser74Thr)
n.5658G>C
n.5699G>C
 ClinVar dbSNP gnomAD v4
17g.43045748C>TCA003696BRCA1c.5519G>A (p.Ser1840Asn)
c.5522G>A (p.Ser1841Asn)
c.5396G>A (p.Ser1799Asn)
c.5516G>A (p.Ser1839Asn)
c.5444G>A (p.Ser1815Asn)
c.2210G>A (p.Ser737Asn)
c.2072G>A (p.Ser691Asn)
c.4634G>A (p.Ser1545Asn)
c.5399G>A (p.Ser1800Asn)
c.5588G>A (p.Ser1863Asn)
c.5381G>A (p.Ser1794Asn)
c.2084G>A (p.Ser695Asn)
n.1405G>A
n.886G>A
c.5585G>A (p.Ser1862Asn)
c.1909G>A
c.2096G>A (p.Ser699Asn)
c.*5305G>A (n.*5305G>A)
c.*36G>A (n.*36G>A)
c.452G>A (p.Ser151Asn)
c.995G>A (p.Ser332Asn)
c.221G>A (p.Ser74Asn)
n.5658G>A
n.5699G>A
 ClinVar dbSNP gnomAD v4
17g.43045748dupCA2573320613BRCA1c.5519dup (p.Ser1840ArgfsTer?)
c.5522dup (p.Ser1841ArgfsTer?)
c.5396dup (p.Ser1799ArgfsTer?)
c.5516dup (p.Ser1839ArgfsTer?)
c.5444dup (p.Ser1815ArgfsTer?)
c.2210dup (p.Ser737ArgfsTer?)
c.2072dup (p.Ser691ArgfsTer?)
c.4634dup (p.Ser1545ArgfsTer?)
c.5399dup (p.Ser1800ArgfsTer?)
c.5588dup (p.Ser1863ArgfsTer?)
c.5381dup (p.Ser1794ArgfsTer?)
c.2084dup (p.Ser695ArgfsTer?)
n.1405dup
n.886dup
c.5585dup (p.Ser1862ArgfsTer?)
c.1909dup
c.2096dup (p.Ser699ArgfsTer?)
c.*5305dup (n.*5305dup)
c.*36dup (n.*36dup)
c.452dup (p.Ser151ArgfsTer?)
c.995dup (p.Ser332ArgfsTer?)
c.221dup (p.Ser74ArgfsTer?)
n.5658dup
n.5699dup
17g.43045748_43045749delinsCTCA2260761092BRCA1c.5518_5519delinsAG (p.Ser1840=)
c.5521_5522delinsAG (p.Ser1841=)
c.5395_5396delinsAG (p.Ser1799=)
c.5515_5516delinsAG (p.Ser1839=)
c.5443_5444delinsAG (p.Ser1815=)
c.2209_2210delinsAG (p.Ser737=)
c.2071_2072delinsAG (p.Ser691=)
c.4633_4634delinsAG (p.Ser1545=)
c.5398_5399delinsAG (p.Ser1800=)
c.5587_5588delinsAG (p.Ser1863=)
c.5380_5381delinsAG (p.Ser1794=)
c.2083_2084delinsAG (p.Ser695=)
n.1404_1405delinsAG
n.885_886delinsAG
c.5584_5585delinsAG (p.Ser1862=)
c.1908_1909delinsAG
c.2095_2096delinsAG (p.Ser699=)
c.*5304_*5305delinsAG (n.*5304_*5305delinsAG)
c.*35_*36delinsAG (n.*35_*36delinsAG)
c.451_452delinsAG (p.Ser151=)
c.994_995delinsAG (p.Ser332=)
c.220_221delinsAG (p.Ser74=)
n.5657_5658delinsAG
n.5698_5699delinsAG
17g.43045749delCA003695BRCA1c.5518del (p.Ser1840ValfsTer2)
c.5521del (p.Ser1841ValfsTer2)
c.5395del (p.Ser1799ValfsTer2)
c.5515del (p.Ser1839ValfsTer2)
c.5443del (p.Ser1815ValfsTer2)
c.2209del (p.Ser737ValfsTer2)
c.2071del (p.Ser691ValfsTer2)
c.4633del (p.Ser1545ValfsTer2)
c.5398del (p.Ser1800ValfsTer2)
c.5587del (p.Ser1863ValfsTer2)
c.5380del (p.Ser1794ValfsTer2)
c.2083del (p.Ser695ValfsTer2)
n.1404del
n.885del
c.5584del (p.Ser1862ValfsTer2)
c.1908del
c.2095del (p.Ser699ValfsTer2)
c.*5304del (n.*5304del)
c.*35del (n.*35del)
c.451del (p.Ser151ValfsTer2)
c.994del (p.Ser332ValfsTer2)
c.220del (p.Ser74ValfsTer2)
n.5657del
n.5698del
 ClinVar dbSNP
17g.43045749T>ACA10590276BRCA1c.5518A>T (p.Ser1840Cys)
c.5521A>T (p.Ser1841Cys)
c.5395A>T (p.Ser1799Cys)
c.5515A>T (p.Ser1839Cys)
c.5443A>T (p.Ser1815Cys)
c.2209A>T (p.Ser737Cys)
c.2071A>T (p.Ser691Cys)
c.4633A>T (p.Ser1545Cys)
c.5398A>T (p.Ser1800Cys)
c.5587A>T (p.Ser1863Cys)
c.5380A>T (p.Ser1794Cys)
c.2083A>T (p.Ser695Cys)
n.1404A>T
n.885A>T
c.5584A>T (p.Ser1862Cys)
c.1908A>T
c.2095A>T (p.Ser699Cys)
c.*5304A>T (n.*5304A>T)
c.*35A>T (n.*35A>T)
c.451A>T (p.Ser151Cys)
c.994A>T (p.Ser332Cys)
c.220A>T (p.Ser74Cys)
n.5657A>T
n.5698A>T
 ClinVar dbSNP
17g.43045749T>CCA10590277BRCA1c.5518A>G (p.Ser1840Gly)
c.5521A>G (p.Ser1841Gly)
c.5395A>G (p.Ser1799Gly)
c.5515A>G (p.Ser1839Gly)
c.5443A>G (p.Ser1815Gly)
c.2209A>G (p.Ser737Gly)
c.2071A>G (p.Ser691Gly)
c.4633A>G (p.Ser1545Gly)
c.5398A>G (p.Ser1800Gly)
c.5587A>G (p.Ser1863Gly)
c.5380A>G (p.Ser1794Gly)
c.2083A>G (p.Ser695Gly)
n.1404A>G
n.885A>G
c.5584A>G (p.Ser1862Gly)
c.1908A>G
c.2095A>G (p.Ser699Gly)
c.*5304A>G (n.*5304A>G)
c.*35A>G (n.*35A>G)
c.451A>G (p.Ser151Gly)
c.994A>G (p.Ser332Gly)
c.220A>G (p.Ser74Gly)
n.5657A>G
n.5698A>G
 ClinVar dbSNP gnomAD v4
17g.43045749T>GCA003694BRCA1c.5518A>C (p.Ser1840Arg)
c.5521A>C (p.Ser1841Arg)
c.5395A>C (p.Ser1799Arg)
c.5515A>C (p.Ser1839Arg)
c.5443A>C (p.Ser1815Arg)
c.2209A>C (p.Ser737Arg)
c.2071A>C (p.Ser691Arg)
c.4633A>C (p.Ser1545Arg)
c.5398A>C (p.Ser1800Arg)
c.5587A>C (p.Ser1863Arg)
c.5380A>C (p.Ser1794Arg)
c.2083A>C (p.Ser695Arg)
n.1404A>C
n.885A>C
c.5584A>C (p.Ser1862Arg)
c.1908A>C
c.2095A>C (p.Ser699Arg)
c.*5304A>C (n.*5304A>C)
c.*35A>C (n.*35A>C)
c.451A>C (p.Ser151Arg)
c.994A>C (p.Ser332Arg)
c.220A>C (p.Ser74Arg)
n.5657A>C
n.5698A>C
 ClinVar dbSNP
17g.43045749T=CA2260761093BRCA1c.5518A= (p.Ser1840=)
c.5521A= (p.Ser1841=)
c.5395A= (p.Ser1799=)
c.5515A= (p.Ser1839=)
c.5443A= (p.Ser1815=)
c.2209A= (p.Ser737=)
c.2071A= (p.Ser691=)
c.4633A= (p.Ser1545=)
c.5398A= (p.Ser1800=)
c.5587A= (p.Ser1863=)
c.5380A= (p.Ser1794=)
c.2083A= (p.Ser695=)
n.1404A=
n.885A=
c.5584A= (p.Ser1862=)
c.1908A=
c.2095A= (p.Ser699=)
c.*5304A= (n.*5304A=)
c.*35A= (n.*35A=)
c.451A= (p.Ser151=)
c.994A= (p.Ser332=)
c.220A= (p.Ser74=)
n.5657A=
n.5698A=
17g.43045750G>ACA500142899BRCA1c.5517C>T (p.Asp1839=)
c.5520C>T (p.Asp1840=)
c.5394C>T (p.Asp1798=)
c.5514C>T (p.Asp1838=)
c.5442C>T (p.Asp1814=)
c.2208C>T (p.Asp736=)
c.2070C>T (p.Asp690=)
c.4632C>T (p.Asp1544=)
c.5397C>T (p.Asp1799=)
c.5586C>T (p.Asp1862=)
c.5379C>T (p.Asp1793=)
c.2082C>T (p.Asp694=)
n.1403C>T
n.884C>T
c.5583C>T (p.Asp1861=)
c.1907C>T
c.2094C>T (p.Asp698=)
c.*5303C>T (n.*5303C>T)
c.*34C>T (n.*34C>T)
c.450C>T (p.Asp150=)
c.993C>T (p.Asp331=)
c.219C>T (p.Asp73=)
n.5656C>T
n.5697C>T
 ClinVar dbSNP
17g.43045750G>CCA10590278BRCA1c.5517C>G (p.Asp1839Glu)
c.5520C>G (p.Asp1840Glu)
c.5394C>G (p.Asp1798Glu)
c.5514C>G (p.Asp1838Glu)
c.5442C>G (p.Asp1814Glu)
c.2208C>G (p.Asp736Glu)
c.2070C>G (p.Asp690Glu)
c.4632C>G (p.Asp1544Glu)
c.5397C>G (p.Asp1799Glu)
c.5586C>G (p.Asp1862Glu)
c.5379C>G (p.Asp1793Glu)
c.2082C>G (p.Asp694Glu)
n.1403C>G
n.884C>G
c.5583C>G (p.Asp1861Glu)
c.1907C>G
c.2094C>G (p.Asp698Glu)
c.*5303C>G (n.*5303C>G)
c.*34C>G (n.*34C>G)
c.450C>G (p.Asp150Glu)
c.993C>G (p.Asp331Glu)
c.219C>G (p.Asp73Glu)
n.5656C>G
n.5697C>G
 ClinVar dbSNP
17g.43045750G=CA2260761094BRCA1c.5517C= (p.Asp1839=)
c.5520C= (p.Asp1840=)
c.5394C= (p.Asp1798=)
c.5514C= (p.Asp1838=)
c.5442C= (p.Asp1814=)
c.2208C= (p.Asp736=)
c.2070C= (p.Asp690=)
c.4632C= (p.Asp1544=)
c.5397C= (p.Asp1799=)
c.5586C= (p.Asp1862=)
c.5379C= (p.Asp1793=)
c.2082C= (p.Asp694=)
n.1403C=
n.884C=
c.5583C= (p.Asp1861=)
c.1907C=
c.2094C= (p.Asp698=)
c.*5303C= (n.*5303C=)
c.*34C= (n.*34C=)
c.450C= (p.Asp150=)
c.993C= (p.Asp331=)
c.219C= (p.Asp73=)
n.5656C=
n.5697C=
17g.43045750G>TCA10590279BRCA1c.5517C>A (p.Asp1839Glu)
c.5520C>A (p.Asp1840Glu)
c.5394C>A (p.Asp1798Glu)
c.5514C>A (p.Asp1838Glu)
c.5442C>A (p.Asp1814Glu)
c.2208C>A (p.Asp736Glu)
c.2070C>A (p.Asp690Glu)
c.4632C>A (p.Asp1544Glu)
c.5397C>A (p.Asp1799Glu)
c.5586C>A (p.Asp1862Glu)
c.5379C>A (p.Asp1793Glu)
c.2082C>A (p.Asp694Glu)
n.1403C>A
n.884C>A
c.5583C>A (p.Asp1861Glu)
c.1907C>A
c.2094C>A (p.Asp698Glu)
c.*5303C>A (n.*5303C>A)
c.*34C>A (n.*34C>A)
c.450C>A (p.Asp150Glu)
c.993C>A (p.Asp331Glu)
c.219C>A (p.Asp73Glu)
n.5656C>A
n.5697C>A
 ClinVar dbSNP
17g.43045750dupCA2695226103BRCA1c.5517dup (p.Ser1840GlnfsTer?)
c.5520dup (p.Ser1841GlnfsTer?)
c.5394dup (p.Ser1799GlnfsTer?)
c.5514dup (p.Ser1839GlnfsTer?)
c.5442dup (p.Ser1815GlnfsTer?)
c.2208dup (p.Ser737GlnfsTer?)
c.2070dup (p.Ser691GlnfsTer?)
c.4632dup (p.Ser1545GlnfsTer?)
c.5397dup (p.Ser1800GlnfsTer?)
c.5586dup (p.Ser1863GlnfsTer?)
c.5379dup (p.Ser1794GlnfsTer?)
c.2082dup (p.Ser695GlnfsTer?)
n.1403dup
n.884dup
c.5583dup (p.Ser1862GlnfsTer?)
c.1907dup
c.2094dup (p.Ser699GlnfsTer?)
c.*5303dup (n.*5303dup)
c.*34dup (n.*34dup)
c.450dup (p.Ser151GlnfsTer?)
c.993dup (p.Ser332GlnfsTer?)
c.219dup (p.Ser74GlnfsTer?)
n.5656dup
n.5697dup
17g.43045751_43045814dupCA10602569BRCA1c.5465-11_5517dup
c.5468-11_5520dup
c.5342-11_5394dup
c.5462-11_5514dup
c.5390-11_5442dup
c.2156-11_2208dup
c.2018-11_2070dup
c.4580-11_4632dup
c.5345-11_5397dup
c.5534-11_5586dup
c.5327-11_5379dup
c.2030-11_2082dup
n.1351-11_1403dup
n.832-11_884dup
c.5531-11_5583dup
c.1855-11_1907dup
c.2042-11_2094dup
c.*5251-11_*5303dup
c.2082-11_*34dup
c.398-11_450dup
c.941-11_993dup
c.167-11_219dup
n.5604-11_5656dup
n.5645-11_5697dup
 ClinVar dbSNP
17g.43045751T>ACA10590280BRCA1c.5516A>T (p.Asp1839Val)
c.5519A>T (p.Asp1840Val)
c.5393A>T (p.Asp1798Val)
c.5513A>T (p.Asp1838Val)
c.5441A>T (p.Asp1814Val)
c.2207A>T (p.Asp736Val)
c.2069A>T (p.Asp690Val)
c.4631A>T (p.Asp1544Val)
c.5396A>T (p.Asp1799Val)
c.5585A>T (p.Asp1862Val)
c.5378A>T (p.Asp1793Val)
c.2081A>T (p.Asp694Val)
n.1402A>T
n.883A>T
c.5582A>T (p.Asp1861Val)
c.1906A>T
c.2093A>T (p.Asp698Val)
c.*5302A>T (n.*5302A>T)
c.*33A>T (n.*33A>T)
c.449A>T (p.Asp150Val)
c.992A>T (p.Asp331Val)
c.218A>T (p.Asp73Val)
n.5655A>T
n.5696A>T
 ClinVar dbSNP
17g.43045751T>CCA10590281BRCA1c.5516A>G (p.Asp1839Gly)
c.5519A>G (p.Asp1840Gly)
c.5393A>G (p.Asp1798Gly)
c.5513A>G (p.Asp1838Gly)
c.5441A>G (p.Asp1814Gly)
c.2207A>G (p.Asp736Gly)
c.2069A>G (p.Asp690Gly)
c.4631A>G (p.Asp1544Gly)
c.5396A>G (p.Asp1799Gly)
c.5585A>G (p.Asp1862Gly)
c.5378A>G (p.Asp1793Gly)
c.2081A>G (p.Asp694Gly)
n.1402A>G
n.883A>G
c.5582A>G (p.Asp1861Gly)
c.1906A>G
c.2093A>G (p.Asp698Gly)
c.*5302A>G (n.*5302A>G)
c.*33A>G (n.*33A>G)
c.449A>G (p.Asp150Gly)
c.992A>G (p.Asp331Gly)
c.218A>G (p.Asp73Gly)
n.5655A>G
n.5696A>G
 ClinVar dbSNP gnomAD v4
17g.43045751T>GCA10590282BRCA1c.5516A>C (p.Asp1839Ala)
c.5519A>C (p.Asp1840Ala)
c.5393A>C (p.Asp1798Ala)
c.5513A>C (p.Asp1838Ala)
c.5441A>C (p.Asp1814Ala)
c.2207A>C (p.Asp736Ala)
c.2069A>C (p.Asp690Ala)
c.4631A>C (p.Asp1544Ala)
c.5396A>C (p.Asp1799Ala)
c.5585A>C (p.Asp1862Ala)
c.5378A>C (p.Asp1793Ala)
c.2081A>C (p.Asp694Ala)
n.1402A>C
n.883A>C
c.5582A>C (p.Asp1861Ala)
c.1906A>C
c.2093A>C (p.Asp698Ala)
c.*5302A>C (n.*5302A>C)
c.*33A>C (n.*33A>C)
c.449A>C (p.Asp150Ala)
c.992A>C (p.Asp331Ala)
c.218A>C (p.Asp73Ala)
n.5655A>C
n.5696A>C
 ClinVar dbSNP
17g.43045751T=CA2260761095BRCA1c.5516A= (p.Asp1839=)
c.5519A= (p.Asp1840=)
c.5393A= (p.Asp1798=)
c.5513A= (p.Asp1838=)
c.5441A= (p.Asp1814=)
c.2207A= (p.Asp736=)
c.2069A= (p.Asp690=)
c.4631A= (p.Asp1544=)
c.5396A= (p.Asp1799=)
c.5585A= (p.Asp1862=)
c.5378A= (p.Asp1793=)
c.2081A= (p.Asp694=)
n.1402A=
n.883A=
c.5582A= (p.Asp1861=)
c.1906A=
c.2093A= (p.Asp698=)
c.*5302A= (n.*5302A=)
c.*33A= (n.*33A=)
c.449A= (p.Asp150=)
c.992A= (p.Asp331=)
c.218A= (p.Asp73=)
n.5655A=
n.5696A=
17g.43045751_43045752delinsTCCA2260761096BRCA1c.5515_5516delinsGA (p.Asp1839=)
c.5518_5519delinsGA (p.Asp1840=)
c.5392_5393delinsGA (p.Asp1798=)
c.5512_5513delinsGA (p.Asp1838=)
c.5440_5441delinsGA (p.Asp1814=)
c.2206_2207delinsGA (p.Asp736=)
c.2068_2069delinsGA (p.Asp690=)
c.4630_4631delinsGA (p.Asp1544=)
c.5395_5396delinsGA (p.Asp1799=)
c.5584_5585delinsGA (p.Asp1862=)
c.5377_5378delinsGA (p.Asp1793=)
c.2080_2081delinsGA (p.Asp694=)
n.1401_1402delinsGA
n.882_883delinsGA
c.5581_5582delinsGA (p.Asp1861=)
c.1905_1906delinsGA
c.2092_2093delinsGA (p.Asp698=)
c.*5301_*5302delinsGA (n.*5301_*5302delinsGA)
c.*32_*33delinsGA (n.*32_*33delinsGA)
c.448_449delinsGA (p.Asp150=)
c.991_992delinsGA (p.Asp331=)
c.217_218delinsGA (p.Asp73=)
n.5654_5655delinsGA
n.5695_5696delinsGA
17g.43045752C>ACA10590283BRCA1c.5515G>T (p.Asp1839Tyr)
c.5518G>T (p.Asp1840Tyr)
c.5392G>T (p.Asp1798Tyr)
c.5512G>T (p.Asp1838Tyr)
c.5440G>T (p.Asp1814Tyr)
c.2206G>T (p.Asp736Tyr)
c.2068G>T (p.Asp690Tyr)
c.4630G>T (p.Asp1544Tyr)
c.5395G>T (p.Asp1799Tyr)
c.5584G>T (p.Asp1862Tyr)
c.5377G>T (p.Asp1793Tyr)
c.2080G>T (p.Asp694Tyr)
n.1401G>T
n.882G>T
c.5581G>T (p.Asp1861Tyr)
c.1905G>T
c.2092G>T (p.Asp698Tyr)
c.*5301G>T (n.*5301G>T)
c.*32G>T (n.*32G>T)
c.448G>T (p.Asp150Tyr)
c.991G>T (p.Asp331Tyr)
c.217G>T (p.Asp73Tyr)
n.5654G>T
n.5695G>T
 ClinVar dbSNP
17g.43045752C=CA2260761097BRCA1c.5515G= (p.Asp1839=)
c.5518G= (p.Asp1840=)
c.5392G= (p.Asp1798=)
c.5512G= (p.Asp1838=)
c.5440G= (p.Asp1814=)
c.2206G= (p.Asp736=)
c.2068G= (p.Asp690=)
c.4630G= (p.Asp1544=)
c.5395G= (p.Asp1799=)
c.5584G= (p.Asp1862=)
c.5377G= (p.Asp1793=)
c.2080G= (p.Asp694=)
n.1401G=
n.882G=
c.5581G= (p.Asp1861=)
c.1905G=
c.2092G= (p.Asp698=)
c.*5301G= (n.*5301G=)
c.*32G= (n.*32G=)
c.448G= (p.Asp150=)
c.991G= (p.Asp331=)
c.217G= (p.Asp73=)
n.5654G=
n.5695G=
17g.43045752C>GCA10590284BRCA1c.5515G>C (p.Asp1839His)
c.5518G>C (p.Asp1840His)
c.5392G>C (p.Asp1798His)
c.5512G>C (p.Asp1838His)
c.5440G>C (p.Asp1814His)
c.2206G>C (p.Asp736His)
c.2068G>C (p.Asp690His)
c.4630G>C (p.Asp1544His)
c.5395G>C (p.Asp1799His)
c.5584G>C (p.Asp1862His)
c.5377G>C (p.Asp1793His)
c.2080G>C (p.Asp694His)
n.1401G>C
n.882G>C
c.5581G>C (p.Asp1861His)
c.1905G>C
c.2092G>C (p.Asp698His)
c.*5301G>C (n.*5301G>C)
c.*32G>C (n.*32G>C)
c.448G>C (p.Asp150His)
c.991G>C (p.Asp331His)
c.217G>C (p.Asp73His)
n.5654G>C
n.5695G>C
 ClinVar dbSNP
17g.43045752C>TCA10590285BRCA1c.5515G>A (p.Asp1839Asn)
c.5518G>A (p.Asp1840Asn)
c.5392G>A (p.Asp1798Asn)
c.5512G>A (p.Asp1838Asn)
c.5440G>A (p.Asp1814Asn)
c.2206G>A (p.Asp736Asn)
c.2068G>A (p.Asp690Asn)
c.4630G>A (p.Asp1544Asn)
c.5395G>A (p.Asp1799Asn)
c.5584G>A (p.Asp1862Asn)
c.5377G>A (p.Asp1793Asn)
c.2080G>A (p.Asp694Asn)
n.1401G>A
n.882G>A
c.5581G>A (p.Asp1861Asn)
c.1905G>A
c.2092G>A (p.Asp698Asn)
c.*5301G>A (n.*5301G>A)
c.*32G>A (n.*32G>A)
c.448G>A (p.Asp150Asn)
c.991G>A (p.Asp331Asn)
c.217G>A (p.Asp73Asn)
n.5654G>A
n.5695G>A
 ClinVar dbSNP gnomAD v4
17g.43045753delCA658824707BRCA1c.5515del (p.Asp1839ThrfsTer3)
c.5518del (p.Asp1840ThrfsTer3)
c.5392del (p.Asp1798ThrfsTer3)
c.5512del (p.Asp1838ThrfsTer3)
c.5440del (p.Asp1814ThrfsTer3)
c.2206del (p.Asp736ThrfsTer3)
c.2068del (p.Asp690ThrfsTer3)
c.4630del (p.Asp1544ThrfsTer3)
c.5395del (p.Asp1799ThrfsTer3)
c.5584del (p.Asp1862ThrfsTer3)
c.5377del (p.Asp1793ThrfsTer3)
c.2080del (p.Asp694ThrfsTer3)
n.1401del
n.882del
c.5581del (p.Asp1861ThrfsTer3)
c.1905del
c.2092del (p.Asp698ThrfsTer3)
c.*5301del (n.*5301del)
c.*32del (n.*32del)
c.448del (p.Asp150ThrfsTer3)
c.991del (p.Asp331ThrfsTer3)
c.217del (p.Asp73ThrfsTer3)
n.5654del
n.5695del
 ClinVar dbSNP
17g.43045752_43045753insGCA915950025BRCA1c.5514_5515insC (p.Asp1839ArgfsTer?)
c.5517_5518insC (p.Asp1840ArgfsTer?)
c.5391_5392insC (p.Asp1798ArgfsTer?)
c.5511_5512insC (p.Asp1838ArgfsTer?)
c.5439_5440insC (p.Asp1814ArgfsTer?)
c.2205_2206insC (p.Asp736ArgfsTer?)
c.2067_2068insC (p.Asp690ArgfsTer?)
c.4629_4630insC (p.Asp1544ArgfsTer?)
c.5394_5395insC (p.Asp1799ArgfsTer?)
c.5583_5584insC (p.Asp1862ArgfsTer?)
c.5376_5377insC (p.Asp1793ArgfsTer?)
c.2079_2080insC (p.Asp694ArgfsTer?)
n.1400_1401insC
n.881_882insC
c.5580_5581insC (p.Asp1861ArgfsTer?)
c.1904_1905insC
c.2091_2092insC (p.Asp698ArgfsTer?)
c.*5300_*5301insC (n.*5300_*5301insC)
c.*31_*32insC (n.*31_*32insC)
c.447_448insC (p.Asp150ArgfsTer?)
c.990_991insC (p.Asp331ArgfsTer?)
c.216_217insC (p.Asp73ArgfsTer?)
n.5653_5654insC
n.5694_5695insC
 ClinVar dbSNP
17g.43045753C>ACA10590286BRCA1c.5514G>T (p.Leu1838Phe)
c.5517G>T (p.Leu1839Phe)
c.5391G>T (p.Leu1797Phe)
c.5511G>T (p.Leu1837Phe)
c.5439G>T (p.Leu1813Phe)
c.2205G>T (p.Leu735Phe)
c.2067G>T (p.Leu689Phe)
c.4629G>T (p.Leu1543Phe)
c.5394G>T (p.Leu1798Phe)
c.5583G>T (p.Leu1861Phe)
c.5376G>T (p.Leu1792Phe)
c.2079G>T (p.Leu693Phe)
n.1400G>T
n.881G>T
c.5580G>T (p.Leu1860Phe)
c.1904G>T
c.2091G>T (p.Leu697Phe)
c.*5300G>T (n.*5300G>T)
c.*31G>T (n.*31G>T)
c.447G>T (p.Leu149Phe)
c.990G>T (p.Leu330Phe)
c.216G>T (p.Leu72Phe)
n.5653G>T
n.5694G>T
 ClinVar dbSNP
17g.43045753C=CA2260761098BRCA1c.5514G= (p.Leu1838=)
c.5517G= (p.Leu1839=)
c.5391G= (p.Leu1797=)
c.5511G= (p.Leu1837=)
c.5439G= (p.Leu1813=)
c.2205G= (p.Leu735=)
c.2067G= (p.Leu689=)
c.4629G= (p.Leu1543=)
c.5394G= (p.Leu1798=)
c.5583G= (p.Leu1861=)
c.5376G= (p.Leu1792=)
c.2079G= (p.Leu693=)
n.1400G=
n.881G=
c.5580G= (p.Leu1860=)
c.1904G=
c.2091G= (p.Leu697=)
c.*5300G= (n.*5300G=)
c.*31G= (n.*31G=)
c.447G= (p.Leu149=)
c.990G= (p.Leu330=)
c.216G= (p.Leu72=)
n.5653G=
n.5694G=
17g.43045753C>GCA10590287BRCA1c.5514G>C (p.Leu1838Phe)
c.5517G>C (p.Leu1839Phe)
c.5391G>C (p.Leu1797Phe)
c.5511G>C (p.Leu1837Phe)
c.5439G>C (p.Leu1813Phe)
c.2205G>C (p.Leu735Phe)
c.2067G>C (p.Leu689Phe)
c.4629G>C (p.Leu1543Phe)
c.5394G>C (p.Leu1798Phe)
c.5583G>C (p.Leu1861Phe)
c.5376G>C (p.Leu1792Phe)
c.2079G>C (p.Leu693Phe)
n.1400G>C
n.881G>C
c.5580G>C (p.Leu1860Phe)
c.1904G>C
c.2091G>C (p.Leu697Phe)
c.*5300G>C (n.*5300G>C)
c.*31G>C (n.*31G>C)
c.447G>C (p.Leu149Phe)
c.990G>C (p.Leu330Phe)
c.216G>C (p.Leu72Phe)
n.5653G>C
n.5694G>C
 ClinVar dbSNP
17g.43045753C>TCA500142900BRCA1c.5514G>A (p.Leu1838=)
c.5517G>A (p.Leu1839=)
c.5391G>A (p.Leu1797=)
c.5511G>A (p.Leu1837=)
c.5439G>A (p.Leu1813=)
c.2205G>A (p.Leu735=)
c.2067G>A (p.Leu689=)
c.4629G>A (p.Leu1543=)
c.5394G>A (p.Leu1798=)
c.5583G>A (p.Leu1861=)
c.5376G>A (p.Leu1792=)
c.2079G>A (p.Leu693=)
n.1400G>A
n.881G>A
c.5580G>A (p.Leu1860=)
c.1904G>A
c.2091G>A (p.Leu697=)
c.*5300G>A (n.*5300G>A)
c.*31G>A (n.*31G>A)
c.447G>A (p.Leu149=)
c.990G>A (p.Leu330=)
c.216G>A (p.Leu72=)
n.5653G>A
n.5694G>A
 dbSNP
17g.43045754A=CA2260761099BRCA1c.5513T= (p.Leu1838=)
c.5516T= (p.Leu1839=)
c.5390T= (p.Leu1797=)
c.5510T= (p.Leu1837=)
c.5438T= (p.Leu1813=)
c.2204T= (p.Leu735=)
c.2066T= (p.Leu689=)
c.4628T= (p.Leu1543=)
c.5393T= (p.Leu1798=)
c.5582T= (p.Leu1861=)
c.5375T= (p.Leu1792=)
c.2078T= (p.Leu693=)
n.1399T=
n.880T=
c.5579T= (p.Leu1860=)
c.1903T=
c.2090T= (p.Leu697=)
c.*5299T= (n.*5299T=)
c.*30T= (n.*30T=)
c.446T= (p.Leu149=)
c.989T= (p.Leu330=)
c.215T= (p.Leu72=)
n.5652T=
n.5693T=
17g.43045754A>CCA10590288BRCA1c.5513T>G (p.Leu1838Trp)
c.5516T>G (p.Leu1839Trp)
c.5390T>G (p.Leu1797Trp)
c.5510T>G (p.Leu1837Trp)
c.5438T>G (p.Leu1813Trp)
c.2204T>G (p.Leu735Trp)
c.2066T>G (p.Leu689Trp)
c.4628T>G (p.Leu1543Trp)
c.5393T>G (p.Leu1798Trp)
c.5582T>G (p.Leu1861Trp)
c.5375T>G (p.Leu1792Trp)
c.2078T>G (p.Leu693Trp)
n.1399T>G
n.880T>G
c.5579T>G (p.Leu1860Trp)
c.1903T>G
c.2090T>G (p.Leu697Trp)
c.*5299T>G (n.*5299T>G)
c.*30T>G (n.*30T>G)
c.446T>G (p.Leu149Trp)
c.989T>G (p.Leu330Trp)
c.215T>G (p.Leu72Trp)
n.5652T>G
n.5693T>G
 dbSNP
17g.43045754A>GCA003693BRCA1c.5513T>C (p.Leu1838Ser)
c.5516T>C (p.Leu1839Ser)
c.5390T>C (p.Leu1797Ser)
c.5510T>C (p.Leu1837Ser)
c.5438T>C (p.Leu1813Ser)
c.2204T>C (p.Leu735Ser)
c.2066T>C (p.Leu689Ser)
c.4628T>C (p.Leu1543Ser)
c.5393T>C (p.Leu1798Ser)
c.5582T>C (p.Leu1861Ser)
c.5375T>C (p.Leu1792Ser)
c.2078T>C (p.Leu693Ser)
n.1399T>C
n.880T>C
c.5579T>C (p.Leu1860Ser)
c.1903T>C
c.2090T>C (p.Leu697Ser)
c.*5299T>C (n.*5299T>C)
c.*30T>C (n.*30T>C)
c.446T>C (p.Leu149Ser)
c.989T>C (p.Leu330Ser)
c.215T>C (p.Leu72Ser)
n.5652T>C
n.5693T>C
 ClinVar dbSNP
17g.43045754A>TCA10590289BRCA1c.5513T>A (p.Leu1838Ter)
c.5516T>A (p.Leu1839Ter)
c.5390T>A (p.Leu1797Ter)
c.5510T>A (p.Leu1837Ter)
c.5438T>A (p.Leu1813Ter)
c.2204T>A (p.Leu735Ter)
c.2066T>A (p.Leu689Ter)
c.4628T>A (p.Leu1543Ter)
c.5393T>A (p.Leu1798Ter)
c.5582T>A (p.Leu1861Ter)
c.5375T>A (p.Leu1792Ter)
c.2078T>A (p.Leu693Ter)
n.1399T>A
n.880T>A
c.5579T>A (p.Leu1860Ter)
c.1903T>A
c.2090T>A (p.Leu697Ter)
c.*5299T>A (n.*5299T>A)
c.*30T>A (n.*30T>A)
c.446T>A (p.Leu149Ter)
c.989T>A (p.Leu330Ter)
c.215T>A (p.Leu72Ter)
n.5652T>A
n.5693T>A
 ClinVar dbSNP
17g.43045755delCA2573153992BRCA1c.5513del (p.Leu1838TrpfsTer4)
c.5516del (p.Leu1839TrpfsTer4)
c.5390del (p.Leu1797TrpfsTer4)
c.5510del (p.Leu1837TrpfsTer4)
c.5438del (p.Leu1813TrpfsTer4)
c.2204del (p.Leu735TrpfsTer4)
c.2066del (p.Leu689TrpfsTer4)
c.4628del (p.Leu1543TrpfsTer4)
c.5393del (p.Leu1798TrpfsTer4)
c.5582del (p.Leu1861TrpfsTer4)
c.5375del (p.Leu1792TrpfsTer4)
c.2078del (p.Leu693TrpfsTer4)
n.1399del
n.880del
c.5579del (p.Leu1860TrpfsTer4)
c.1903del
c.2090del (p.Leu697TrpfsTer4)
c.*5299del (n.*5299del)
c.*30del (n.*30del)
c.446del (p.Leu149TrpfsTer4)
c.989del (p.Leu330TrpfsTer4)
c.215del (p.Leu72TrpfsTer4)
n.5652del
n.5693del
 ClinVar dbSNP
17g.43045755A=CA2260761100BRCA1c.5512T= (p.Leu1838=)
c.5515T= (p.Leu1839=)
c.5389T= (p.Leu1797=)
c.5509T= (p.Leu1837=)
c.5437T= (p.Leu1813=)
c.2203T= (p.Leu735=)
c.2065T= (p.Leu689=)
c.4627T= (p.Leu1543=)
c.5392T= (p.Leu1798=)
c.5581T= (p.Leu1861=)
c.5374T= (p.Leu1792=)
c.2077T= (p.Leu693=)
n.1398T=
n.879T=
c.5578T= (p.Leu1860=)
c.1902T=
c.2089T= (p.Leu697=)
c.*5298T= (n.*5298T=)
c.*29T= (n.*29T=)
c.445T= (p.Leu149=)
c.988T= (p.Leu330=)
c.214T= (p.Leu72=)
n.5651T=
n.5692T=
17g.43045755A>CCA10590290BRCA1c.5512T>G (p.Leu1838Val)
c.5515T>G (p.Leu1839Val)
c.5389T>G (p.Leu1797Val)
c.5509T>G (p.Leu1837Val)
c.5437T>G (p.Leu1813Val)
c.2203T>G (p.Leu735Val)
c.2065T>G (p.Leu689Val)
c.4627T>G (p.Leu1543Val)
c.5392T>G (p.Leu1798Val)
c.5581T>G (p.Leu1861Val)
c.5374T>G (p.Leu1792Val)
c.2077T>G (p.Leu693Val)
n.1398T>G
n.879T>G
c.5578T>G (p.Leu1860Val)
c.1902T>G
c.2089T>G (p.Leu697Val)
c.*5298T>G (n.*5298T>G)
c.*29T>G (n.*29T>G)
c.445T>G (p.Leu149Val)
c.988T>G (p.Leu330Val)
c.214T>G (p.Leu72Val)
n.5651T>G
n.5692T>G
 ClinVar dbSNP
17g.43045755A>GCA500142902BRCA1c.5512T>C (p.Leu1838=)
c.5515T>C (p.Leu1839=)
c.5389T>C (p.Leu1797=)
c.5509T>C (p.Leu1837=)
c.5437T>C (p.Leu1813=)
c.2203T>C (p.Leu735=)
c.2065T>C (p.Leu689=)
c.4627T>C (p.Leu1543=)
c.5392T>C (p.Leu1798=)
c.5581T>C (p.Leu1861=)
c.5374T>C (p.Leu1792=)
c.2077T>C (p.Leu693=)
n.1398T>C
n.879T>C
c.5578T>C (p.Leu1860=)
c.1902T>C
c.2089T>C (p.Leu697=)
c.*5298T>C (n.*5298T>C)
c.*29T>C (n.*29T>C)
c.445T>C (p.Leu149=)
c.988T>C (p.Leu330=)
c.214T>C (p.Leu72=)
n.5651T>C
n.5692T>C
 ClinVar dbSNP
17g.43045755A>TCA10590291BRCA1c.5512T>A (p.Leu1838Met)
c.5515T>A (p.Leu1839Met)
c.5389T>A (p.Leu1797Met)
c.5509T>A (p.Leu1837Met)
c.5437T>A (p.Leu1813Met)
c.2203T>A (p.Leu735Met)
c.2065T>A (p.Leu689Met)
c.4627T>A (p.Leu1543Met)
c.5392T>A (p.Leu1798Met)
c.5581T>A (p.Leu1861Met)
c.5374T>A (p.Leu1792Met)
c.2077T>A (p.Leu693Met)
n.1398T>A
n.879T>A
c.5578T>A (p.Leu1860Met)
c.1902T>A
c.2089T>A (p.Leu697Met)
c.*5298T>A (n.*5298T>A)
c.*29T>A (n.*29T>A)
c.445T>A (p.Leu149Met)
c.988T>A (p.Leu330Met)
c.214T>A (p.Leu72Met)
n.5651T>A
n.5692T>A
 dbSNP
17g.43045756delCA2573153993BRCA1c.5511del (p.Leu1838TrpfsTer4)
c.5514del (p.Leu1839TrpfsTer4)
c.5388del (p.Leu1797TrpfsTer4)
c.5508del (p.Leu1837TrpfsTer4)
c.5436del (p.Leu1813TrpfsTer4)
c.2202del (p.Leu735TrpfsTer4)
c.2064del (p.Leu689TrpfsTer4)
c.4626del (p.Leu1543TrpfsTer4)
c.5391del (p.Leu1798TrpfsTer4)
c.5580del (p.Leu1861TrpfsTer4)
c.5373del (p.Leu1792TrpfsTer4)
c.2076del (p.Leu693TrpfsTer4)
n.1397del
n.878del
c.5577del (p.Leu1860TrpfsTer4)
c.1901del
c.2088del (p.Leu697TrpfsTer4)
c.*5297del (n.*5297del)
c.*28del (n.*28del)
c.444del (p.Leu149TrpfsTer4)
c.987del (p.Leu330TrpfsTer4)
c.213del (p.Leu72TrpfsTer4)
n.5650del
n.5691del
 ClinVar dbSNP
17g.43045756C>ACA003692BRCA1c.5511G>T (p.Val1837=)
c.5514G>T (p.Val1838=)
c.5388G>T (p.Val1796=)
c.5508G>T (p.Val1836=)
c.5436G>T (p.Val1812=)
c.2202G>T (p.Val734=)
c.2064G>T (p.Val688=)
c.4626G>T (p.Val1542=)
c.5391G>T (p.Val1797=)
c.5580G>T (p.Val1860=)
c.5373G>T (p.Val1791=)
c.2076G>T (p.Val692=)
n.1397G>T
n.878G>T
c.5577G>T (p.Val1859=)
c.1901G>T
c.2088G>T (p.Val696=)
c.*5297G>T (n.*5297G>T)
c.*28G>T (n.*28G>T)
c.444G>T (p.Val148=)
c.987G>T (p.Val329=)
c.213G>T (p.Val71=)
n.5650G>T
n.5691G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045756C=CA2260761101BRCA1c.5511G= (p.Val1837=)
c.5514G= (p.Val1838=)
c.5388G= (p.Val1796=)
c.5508G= (p.Val1836=)
c.5436G= (p.Val1812=)
c.2202G= (p.Val734=)
c.2064G= (p.Val688=)
c.4626G= (p.Val1542=)
c.5391G= (p.Val1797=)
c.5580G= (p.Val1860=)
c.5373G= (p.Val1791=)
c.2076G= (p.Val692=)
n.1397G=
n.878G=
c.5577G= (p.Val1859=)
c.1901G=
c.2088G= (p.Val696=)
c.*5297G= (n.*5297G=)
c.*28G= (n.*28G=)
c.444G= (p.Val148=)
c.987G= (p.Val329=)
c.213G= (p.Val71=)
n.5650G=
n.5691G=
17g.43045756C>GCA500142904BRCA1c.5511G>C (p.Val1837=)
c.5514G>C (p.Val1838=)
c.5388G>C (p.Val1796=)
c.5508G>C (p.Val1836=)
c.5436G>C (p.Val1812=)
c.2202G>C (p.Val734=)
c.2064G>C (p.Val688=)
c.4626G>C (p.Val1542=)
c.5391G>C (p.Val1797=)
c.5580G>C (p.Val1860=)
c.5373G>C (p.Val1791=)
c.2076G>C (p.Val692=)
n.1397G>C
n.878G>C
c.5577G>C (p.Val1859=)
c.1901G>C
c.2088G>C (p.Val696=)
c.*5297G>C (n.*5297G>C)
c.*28G>C (n.*28G>C)
c.444G>C (p.Val148=)
c.987G>C (p.Val329=)
c.213G>C (p.Val71=)
n.5650G>C
n.5691G>C
 ClinVar dbSNP
17g.43045756C>TCA500142905BRCA1c.5511G>A (p.Val1837=)
c.5514G>A (p.Val1838=)
c.5388G>A (p.Val1796=)
c.5508G>A (p.Val1836=)
c.5436G>A (p.Val1812=)
c.2202G>A (p.Val734=)
c.2064G>A (p.Val688=)
c.4626G>A (p.Val1542=)
c.5391G>A (p.Val1797=)
c.5580G>A (p.Val1860=)
c.5373G>A (p.Val1791=)
c.2076G>A (p.Val692=)
n.1397G>A
n.878G>A
c.5577G>A (p.Val1859=)
c.1901G>A
c.2088G>A (p.Val696=)
c.*5297G>A (n.*5297G>A)
c.*28G>A (n.*28G>A)
c.444G>A (p.Val148=)
c.987G>A (p.Val329=)
c.213G>A (p.Val71=)
n.5650G>A
n.5691G>A
 ClinVar dbSNP gnomAD v4
17g.43045760_43045774delCA003669BRCA1c.5497_5511del (p.Thr1833_Val1837del)
c.5500_5514del (p.Thr1834_Val1838del)
c.5374_5388del (p.Thr1792_Val1796del)
c.5494_5508del (p.Thr1832_Val1836del)
c.5422_5436del (p.Thr1808_Val1812del)
c.2188_2202del (p.Thr730_Val734del)
c.2050_2064del (p.Thr684_Val688del)
c.4612_4626del (p.Thr1538_Val1542del)
c.5377_5391del (p.Thr1793_Val1797del)
c.5566_5580del (p.Thr1856_Val1860del)
c.5359_5373del (p.Thr1787_Val1791del)
c.2062_2076del (p.Thr688_Val692del)
n.1383_1397del
n.864_878del
c.5563_5577del (p.Thr1855_Val1859del)
c.1887_1901del
c.2074_2088del (p.Thr692_Val696del)
c.*5283_*5297del (n.*5283_*5297del)
c.*14_*28del (n.*14_*28del)
c.430_444del (p.Thr144_Val148del)
c.973_987del (p.Thr325_Val329del)
c.199_213del (p.Thr67_Val71del)
n.5636_5650del
n.5677_5691del
17g.43045757A=CA2260761102BRCA1c.5510T= (p.Val1837=)
c.5513T= (p.Val1838=)
c.5387T= (p.Val1796=)
c.5507T= (p.Val1836=)
c.5435T= (p.Val1812=)
c.2201T= (p.Val734=)
c.2063T= (p.Val688=)
c.4625T= (p.Val1542=)
c.5390T= (p.Val1797=)
c.5579T= (p.Val1860=)
c.5372T= (p.Val1791=)
c.2075T= (p.Val692=)
n.1396T=
n.877T=
c.5576T= (p.Val1859=)
c.1900T=
c.2087T= (p.Val696=)
c.*5296T= (n.*5296T=)
c.*27T= (n.*27T=)
c.443T= (p.Val148=)
c.986T= (p.Val329=)
c.212T= (p.Val71=)
n.5649T=
n.5690T=
17g.43045757A>CCA10586676BRCA1c.5510T>G (p.Val1837Gly)
c.5513T>G (p.Val1838Gly)
c.5387T>G (p.Val1796Gly)
c.5507T>G (p.Val1836Gly)
c.5435T>G (p.Val1812Gly)
c.2201T>G (p.Val734Gly)
c.2063T>G (p.Val688Gly)
c.4625T>G (p.Val1542Gly)
c.5390T>G (p.Val1797Gly)
c.5579T>G (p.Val1860Gly)
c.5372T>G (p.Val1791Gly)
c.2075T>G (p.Val692Gly)
n.1396T>G
n.877T>G
c.5576T>G (p.Val1859Gly)
c.1900T>G
c.2087T>G (p.Val696Gly)
c.*5296T>G (n.*5296T>G)
c.*27T>G (n.*27T>G)
c.443T>G (p.Val148Gly)
c.986T>G (p.Val329Gly)
c.212T>G (p.Val71Gly)
n.5649T>G
n.5690T>G
 ClinVar dbSNP
17g.43045757A>GCA10590292BRCA1c.5510T>C (p.Val1837Ala)
c.5513T>C (p.Val1838Ala)
c.5387T>C (p.Val1796Ala)
c.5507T>C (p.Val1836Ala)
c.5435T>C (p.Val1812Ala)
c.2201T>C (p.Val734Ala)
c.2063T>C (p.Val688Ala)
c.4625T>C (p.Val1542Ala)
c.5390T>C (p.Val1797Ala)
c.5579T>C (p.Val1860Ala)
c.5372T>C (p.Val1791Ala)
c.2075T>C (p.Val692Ala)
n.1396T>C
n.877T>C
c.5576T>C (p.Val1859Ala)
c.1900T>C
c.2087T>C (p.Val696Ala)
c.*5296T>C (n.*5296T>C)
c.*27T>C (n.*27T>C)
c.443T>C (p.Val148Ala)
c.986T>C (p.Val329Ala)
c.212T>C (p.Val71Ala)
n.5649T>C
n.5690T>C
 ClinVar dbSNP
17g.43045757A>TCA003690BRCA1c.5510T>A (p.Val1837Glu)
c.5513T>A (p.Val1838Glu)
c.5387T>A (p.Val1796Glu)
c.5507T>A (p.Val1836Glu)
c.5435T>A (p.Val1812Glu)
c.2201T>A (p.Val734Glu)
c.2063T>A (p.Val688Glu)
c.4625T>A (p.Val1542Glu)
c.5390T>A (p.Val1797Glu)
c.5579T>A (p.Val1860Glu)
c.5372T>A (p.Val1791Glu)
c.2075T>A (p.Val692Glu)
n.1396T>A
n.877T>A
c.5576T>A (p.Val1859Glu)
c.1900T>A
c.2087T>A (p.Val696Glu)
c.*5296T>A (n.*5296T>A)
c.*27T>A (n.*27T>A)
c.443T>A (p.Val148Glu)
c.986T>A (p.Val329Glu)
c.212T>A (p.Val71Glu)
n.5649T>A
n.5690T>A
 ClinVar dbSNP
17g.43045757_43045758delinsACCA2260761103BRCA1c.5509_5510delinsGT (p.Val1837=)
c.5512_5513delinsGT (p.Val1838=)
c.5386_5387delinsGT (p.Val1796=)
c.5506_5507delinsGT (p.Val1836=)
c.5434_5435delinsGT (p.Val1812=)
c.2200_2201delinsGT (p.Val734=)
c.2062_2063delinsGT (p.Val688=)
c.4624_4625delinsGT (p.Val1542=)
c.5389_5390delinsGT (p.Val1797=)
c.5578_5579delinsGT (p.Val1860=)
c.5371_5372delinsGT (p.Val1791=)
c.2074_2075delinsGT (p.Val692=)
n.1395_1396delinsGT
n.876_877delinsGT
c.5575_5576delinsGT (p.Val1859=)
c.1899_1900delinsGT
c.2086_2087delinsGT (p.Val696=)
c.*5295_*5296delinsGT (n.*5295_*5296delinsGT)
c.*26_*27delinsGT (n.*26_*27delinsGT)
c.442_443delinsGT (p.Val148=)
c.985_986delinsGT (p.Val329=)
c.211_212delinsGT (p.Val71=)
n.5648_5649delinsGT
n.5689_5690delinsGT
17g.43045758C>ACA003689BRCA1c.5509G>T (p.Val1837Leu)
c.5512G>T (p.Val1838Leu)
c.5386G>T (p.Val1796Leu)
c.5506G>T (p.Val1836Leu)
c.5434G>T (p.Val1812Leu)
c.2200G>T (p.Val734Leu)
c.2062G>T (p.Val688Leu)
c.4624G>T (p.Val1542Leu)
c.5389G>T (p.Val1797Leu)
c.5578G>T (p.Val1860Leu)
c.5371G>T (p.Val1791Leu)
c.2074G>T (p.Val692Leu)
n.1395G>T
n.876G>T
c.5575G>T (p.Val1859Leu)
c.1899G>T
c.2086G>T (p.Val696Leu)
c.*5295G>T (n.*5295G>T)
c.*26G>T (n.*26G>T)
c.442G>T (p.Val148Leu)
c.985G>T (p.Val329Leu)
c.211G>T (p.Val71Leu)
n.5648G>T
n.5689G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045758C=CA2260761105BRCA1c.5509G= (p.Val1837=)
c.5512G= (p.Val1838=)
c.5386G= (p.Val1796=)
c.5506G= (p.Val1836=)
c.5434G= (p.Val1812=)
c.2200G= (p.Val734=)
c.2062G= (p.Val688=)
c.4624G= (p.Val1542=)
c.5389G= (p.Val1797=)
c.5578G= (p.Val1860=)
c.5371G= (p.Val1791=)
c.2074G= (p.Val692=)
n.1395G=
n.876G=
c.5575G= (p.Val1859=)
c.1899G=
c.2086G= (p.Val696=)
c.*5295G= (n.*5295G=)
c.*26G= (n.*26G=)
c.442G= (p.Val148=)
c.985G= (p.Val329=)
c.211G= (p.Val71=)
n.5648G=
n.5689G=
17g.43045758C>GCA10590293BRCA1c.5509G>C (p.Val1837Leu)
c.5512G>C (p.Val1838Leu)
c.5386G>C (p.Val1796Leu)
c.5506G>C (p.Val1836Leu)
c.5434G>C (p.Val1812Leu)
c.2200G>C (p.Val734Leu)
c.2062G>C (p.Val688Leu)
c.4624G>C (p.Val1542Leu)
c.5389G>C (p.Val1797Leu)
c.5578G>C (p.Val1860Leu)
c.5371G>C (p.Val1791Leu)
c.2074G>C (p.Val692Leu)
n.1395G>C
n.876G>C
c.5575G>C (p.Val1859Leu)
c.1899G>C
c.2086G>C (p.Val696Leu)
c.*5295G>C (n.*5295G>C)
c.*26G>C (n.*26G>C)
c.442G>C (p.Val148Leu)
c.985G>C (p.Val329Leu)
c.211G>C (p.Val71Leu)
n.5648G>C
n.5689G>C
 ClinVar dbSNP
17g.43045758C>TCA003688BRCA1c.5509G>A (p.Val1837Met)
c.5512G>A (p.Val1838Met)
c.5386G>A (p.Val1796Met)
c.5506G>A (p.Val1836Met)
c.5434G>A (p.Val1812Met)
c.2200G>A (p.Val734Met)
c.2062G>A (p.Val688Met)
c.4624G>A (p.Val1542Met)
c.5389G>A (p.Val1797Met)
c.5578G>A (p.Val1860Met)
c.5371G>A (p.Val1791Met)
c.2074G>A (p.Val692Met)
n.1395G>A
n.876G>A
c.5575G>A (p.Val1859Met)
c.1899G>A
c.2086G>A (p.Val696Met)
c.*5295G>A (n.*5295G>A)
c.*26G>A (n.*26G>A)
c.442G>A (p.Val148Met)
c.985G>A (p.Val329Met)
c.211G>A (p.Val71Met)
n.5648G>A
n.5689G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045760dupCA2499224342BRCA1c.5509dup (p.Val1837GlyfsTer?)
c.5512dup (p.Val1838GlyfsTer?)
c.5386dup (p.Val1796GlyfsTer?)
c.5506dup (p.Val1836GlyfsTer?)
c.5434dup (p.Val1812GlyfsTer?)
c.2200dup (p.Val734GlyfsTer?)
c.2062dup (p.Val688GlyfsTer?)
c.4624dup (p.Val1542GlyfsTer?)
c.5389dup (p.Val1797GlyfsTer?)
c.5578dup (p.Val1860GlyfsTer?)
c.5371dup (p.Val1791GlyfsTer?)
c.2074dup (p.Val692GlyfsTer?)
n.1395dup
n.876dup
c.5575dup (p.Val1859GlyfsTer?)
c.1899dup
c.2086dup (p.Val696GlyfsTer?)
c.*5295dup (n.*5295dup)
c.*26dup (n.*26dup)
c.442dup (p.Val148GlyfsTer?)
c.985dup (p.Val329GlyfsTer?)
c.211dup (p.Val71GlyfsTer?)
n.5648dup
n.5689dup
17g.43045760delCA003683BRCA1c.5509del (p.Val1837CysfsTer5)
c.5512del (p.Val1838CysfsTer5)
c.5386del (p.Val1796CysfsTer5)
c.5506del (p.Val1836CysfsTer5)
c.5434del (p.Val1812CysfsTer5)
c.2200del (p.Val734CysfsTer5)
c.2062del (p.Val688CysfsTer5)
c.4624del (p.Val1542CysfsTer5)
c.5389del (p.Val1797CysfsTer5)
c.5578del (p.Val1860CysfsTer5)
c.5371del (p.Val1791CysfsTer5)
c.2074del (p.Val692CysfsTer5)
n.1395del
n.876del
c.5575del (p.Val1859CysfsTer5)
c.1899del
c.2086del (p.Val696CysfsTer5)
c.*5295del (n.*5295del)
c.*26del (n.*26del)
c.442del (p.Val148CysfsTer5)
c.985del (p.Val329CysfsTer5)
c.211del (p.Val71CysfsTer5)
n.5648del
n.5689del
 ClinVar dbSNP
17g.43045758_43045772delinsCCCACTCTCGGGTCACA2260761104BRCA1c.5495_5509delinsTGACCCGAGAGTGGG (p.Val1832=)
c.5498_5512delinsTGACCCGAGAGTGGG (p.Val1833=)
c.5372_5386delinsTGACCCGAGAGTGGG (p.Val1791=)
c.5492_5506delinsTGACCCGAGAGTGGG (p.Val1831=)
c.5420_5434delinsTGACCCGAGAGTGGG (p.Val1807=)
c.2186_2200delinsTGACCCGAGAGTGGG (p.Val729=)
c.2048_2062delinsTGACCCGAGAGTGGG (p.Val683=)
c.4610_4624delinsTGACCCGAGAGTGGG (p.Val1537=)
c.5375_5389delinsTGACCCGAGAGTGGG (p.Val1792=)
c.5564_5578delinsTGACCCGAGAGTGGG (p.Val1855=)
c.5357_5371delinsTGACCCGAGAGTGGG (p.Val1786=)
c.2060_2074delinsTGACCCGAGAGTGGG (p.Val687=)
n.1381_1395delinsTGACCCGAGAGTGGG
n.862_876delinsTGACCCGAGAGTGGG
c.5561_5575delinsTGACCCGAGAGTGGG (p.Val1854=)
c.1885_1899delinsTGACCCGAGAGTGGG
c.2072_2086delinsTGACCCGAGAGTGGG (p.Val691=)
c.*5281_*5295delinsTGACCCGAGAGTGGG (n.*5281_*5295delinsTGACCCGAGAGTGGG)
c.*12_*26delinsTGACCCGAGAGTGGG (n.*12_*26delinsTGACCCGAGAGTGGG)
c.428_442delinsTGACCCGAGAGTGGG (p.Val143=)
c.971_985delinsTGACCCGAGAGTGGG (p.Val324=)
c.197_211delinsTGACCCGAGAGTGGG (p.Val66=)
n.5634_5648delinsTGACCCGAGAGTGGG
n.5675_5689delinsTGACCCGAGAGTGGG
17g.43045759C>ACA003686BRCA1c.5508G>T (p.Trp1836Cys)
c.5511G>T (p.Trp1837Cys)
c.5385G>T (p.Trp1795Cys)
c.5505G>T (p.Trp1835Cys)
c.5433G>T (p.Trp1811Cys)
c.2199G>T (p.Trp733Cys)
c.2061G>T (p.Trp687Cys)
c.4623G>T (p.Trp1541Cys)
c.5388G>T (p.Trp1796Cys)
c.5577G>T (p.Trp1859Cys)
c.5370G>T (p.Trp1790Cys)
c.2073G>T (p.Trp691Cys)
n.1394G>T
n.875G>T
c.5574G>T (p.Trp1858Cys)
c.1898G>T
c.2085G>T (p.Trp695Cys)
c.*5294G>T (n.*5294G>T)
c.*25G>T (n.*25G>T)
c.441G>T (p.Trp147Cys)
c.984G>T (p.Trp328Cys)
c.210G>T (p.Trp70Cys)
n.5647G>T
n.5688G>T
 ClinVar dbSNP
17g.43045759C=CA2260761106BRCA1c.5508G= (p.Trp1836=)
c.5511G= (p.Trp1837=)
c.5385G= (p.Trp1795=)
c.5505G= (p.Trp1835=)
c.5433G= (p.Trp1811=)
c.2199G= (p.Trp733=)
c.2061G= (p.Trp687=)
c.4623G= (p.Trp1541=)
c.5388G= (p.Trp1796=)
c.5577G= (p.Trp1859=)
c.5370G= (p.Trp1790=)
c.2073G= (p.Trp691=)
n.1394G=
n.875G=
c.5574G= (p.Trp1858=)
c.1898G=
c.2085G= (p.Trp695=)
c.*5294G= (n.*5294G=)
c.*25G= (n.*25G=)
c.441G= (p.Trp147=)
c.984G= (p.Trp328=)
c.210G= (p.Trp70=)
n.5647G=
n.5688G=
17g.43045759C>GCA10590294BRCA1c.5508G>C (p.Trp1836Cys)
c.5511G>C (p.Trp1837Cys)
c.5385G>C (p.Trp1795Cys)
c.5505G>C (p.Trp1835Cys)
c.5433G>C (p.Trp1811Cys)
c.2199G>C (p.Trp733Cys)
c.2061G>C (p.Trp687Cys)
c.4623G>C (p.Trp1541Cys)
c.5388G>C (p.Trp1796Cys)
c.5577G>C (p.Trp1859Cys)
c.5370G>C (p.Trp1790Cys)
c.2073G>C (p.Trp691Cys)
n.1394G>C
n.875G>C
c.5574G>C (p.Trp1858Cys)
c.1898G>C
c.2085G>C (p.Trp695Cys)
c.*5294G>C (n.*5294G>C)
c.*25G>C (n.*25G>C)
c.441G>C (p.Trp147Cys)
c.984G>C (p.Trp328Cys)
c.210G>C (p.Trp70Cys)
n.5647G>C
n.5688G>C
 ClinVar dbSNP gnomAD v4
17g.43045759C>TCA003685BRCA1c.5508G>A (p.Trp1836Ter)
c.5511G>A (p.Trp1837Ter)
c.5385G>A (p.Trp1795Ter)
c.5505G>A (p.Trp1835Ter)
c.5433G>A (p.Trp1811Ter)
c.2199G>A (p.Trp733Ter)
c.2061G>A (p.Trp687Ter)
c.4623G>A (p.Trp1541Ter)
c.5388G>A (p.Trp1796Ter)
c.5577G>A (p.Trp1859Ter)
c.5370G>A (p.Trp1790Ter)
c.2073G>A (p.Trp691Ter)
n.1394G>A
n.875G>A
c.5574G>A (p.Trp1858Ter)
c.1898G>A
c.2085G>A (p.Trp695Ter)
c.*5294G>A (n.*5294G>A)
c.*25G>A (n.*25G>A)
c.441G>A (p.Trp147Ter)
c.984G>A (p.Trp328Ter)
c.210G>A (p.Trp70Ter)
n.5647G>A
n.5688G>A
 ClinVar dbSNP
17g.43045759_43045760delinsAGCA2499224343BRCA1c.5507_5508delinsCT (p.Trp1836Ser)
c.5510_5511delinsCT (p.Trp1837Ser)
c.5384_5385delinsCT (p.Trp1795Ser)
c.5504_5505delinsCT (p.Trp1835Ser)
c.5432_5433delinsCT (p.Trp1811Ser)
c.2198_2199delinsCT (p.Trp733Ser)
c.2060_2061delinsCT (p.Trp687Ser)
c.4622_4623delinsCT (p.Trp1541Ser)
c.5387_5388delinsCT (p.Trp1796Ser)
c.5576_5577delinsCT (p.Trp1859Ser)
c.5369_5370delinsCT (p.Trp1790Ser)
c.2072_2073delinsCT (p.Trp691Ser)
n.1393_1394delinsCT
n.874_875delinsCT
c.5573_5574delinsCT (p.Trp1858Ser)
c.1897_1898delinsCT
c.2084_2085delinsCT (p.Trp695Ser)
c.*5293_*5294delinsCT (n.*5293_*5294delinsCT)
c.*24_*25delinsCT (n.*24_*25delinsCT)
c.440_441delinsCT (p.Trp147Ser)
c.983_984delinsCT (p.Trp328Ser)
c.209_210delinsCT (p.Trp70Ser)
n.5646_5647delinsCT
n.5687_5688delinsCT
 ClinVar dbSNP
17g.43045759_43045761delinsCCACA2260761108BRCA1c.5506_5508delinsTGG (p.Trp1836=)
c.5509_5511delinsTGG (p.Trp1837=)
c.5383_5385delinsTGG (p.Trp1795=)
c.5503_5505delinsTGG (p.Trp1835=)
c.5431_5433delinsTGG (p.Trp1811=)
c.2197_2199delinsTGG (p.Trp733=)
c.2059_2061delinsTGG (p.Trp687=)
c.4621_4623delinsTGG (p.Trp1541=)
c.5386_5388delinsTGG (p.Trp1796=)
c.5575_5577delinsTGG (p.Trp1859=)
c.5368_5370delinsTGG (p.Trp1790=)
c.2071_2073delinsTGG (p.Trp691=)
n.1392_1394delinsTGG
n.873_875delinsTGG
c.5572_5574delinsTGG (p.Trp1858=)
c.1896_1898delinsTGG
c.2083_2085delinsTGG (p.Trp695=)
c.*5292_*5294delinsTGG (n.*5292_*5294delinsTGG)
c.*23_*25delinsTGG (n.*23_*25delinsTGG)
c.439_441delinsTGG (p.Trp147=)
c.982_984delinsTGG (p.Trp328=)
c.208_210delinsTGG (p.Trp70=)
n.5645_5647delinsTGG
n.5686_5688delinsTGG
17g.43045763_43045776delCA003668BRCA1c.5495_5508del (p.Val1832GlyfsTer?)
c.5498_5511del (p.Val1833GlyfsTer?)
c.5372_5385del (p.Val1791GlyfsTer?)
c.5492_5505del (p.Val1831GlyfsTer?)
c.5420_5433del (p.Val1807GlyfsTer?)
c.2186_2199del (p.Val729GlyfsTer?)
c.2048_2061del (p.Val683GlyfsTer?)
c.4610_4623del (p.Val1537GlyfsTer?)
c.5375_5388del (p.Val1792GlyfsTer?)
c.5564_5577del (p.Val1855GlyfsTer?)
c.5357_5370del (p.Val1786GlyfsTer?)
c.2060_2073del (p.Val687GlyfsTer?)
n.1381_1394del
n.862_875del
c.5561_5574del (p.Val1854GlyfsTer?)
c.1885_1898del
c.2072_2085del (p.Val691GlyfsTer?)
c.*5281_*5294del (n.*5281_*5294del)
c.*12_*25del (n.*12_*25del)
c.428_441del (p.Val143GlyfsTer?)
c.971_984del (p.Val324GlyfsTer?)
c.197_210del (p.Val66GlyfsTer?)
n.5634_5647del
n.5675_5688del
 ClinVar dbSNP
17g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCTCA2260761107BRCA1c.5483_5508delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1828=)
c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1829=)
c.5360_5385delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1787=)
c.5480_5505delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1827=)
c.5408_5433delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1803=)
c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu725=)
c.2036_2061delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu679=)
c.4598_4623delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1533=)
c.5363_5388delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1788=)
c.5552_5577delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1851=)
c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1782=)
c.2048_2073delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu683=)
n.1369_1394delinsAGGCACCTGTGGTGACCCGAGAGTGG
n.850_875delinsAGGCACCTGTGGTGACCCGAGAGTGG
c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1850=)
c.1873_1898delinsAGGCACCTGTGGTGACCCGAGAGTGG
c.2060_2085delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu687=)
c.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG)
c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG;Ter700=])
c.416_441delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu139=)
c.959_984delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu320=)
c.185_210delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu62=)
n.5622_5647delinsAGGCACCTGTGGTGACCCGAGAGTGG
n.5663_5688delinsAGGCACCTGTGGTGACCCGAGAGTGG
17g.43045760C>ACA10590295BRCA1c.5507G>T (p.Trp1836Leu)
c.5510G>T (p.Trp1837Leu)
c.5384G>T (p.Trp1795Leu)
c.5504G>T (p.Trp1835Leu)
c.5432G>T (p.Trp1811Leu)
c.2198G>T (p.Trp733Leu)
c.2060G>T (p.Trp687Leu)
c.4622G>T (p.Trp1541Leu)
c.5387G>T (p.Trp1796Leu)
c.5576G>T (p.Trp1859Leu)
c.5369G>T (p.Trp1790Leu)
c.2072G>T (p.Trp691Leu)
n.1393G>T
n.874G>T
c.5573G>T (p.Trp1858Leu)
c.1897G>T
c.2084G>T (p.Trp695Leu)
c.*5293G>T (n.*5293G>T)
c.*24G>T (n.*24G>T)
c.440G>T (p.Trp147Leu)
c.983G>T (p.Trp328Leu)
c.209G>T (p.Trp70Leu)
n.5646G>T
n.5687G>T
 ClinVar dbSNP
17g.43045760C=CA2260761109BRCA1c.5507G= (p.Trp1836=)
c.5510G= (p.Trp1837=)
c.5384G= (p.Trp1795=)
c.5504G= (p.Trp1835=)
c.5432G= (p.Trp1811=)
c.2198G= (p.Trp733=)
c.2060G= (p.Trp687=)
c.4622G= (p.Trp1541=)
c.5387G= (p.Trp1796=)
c.5576G= (p.Trp1859=)
c.5369G= (p.Trp1790=)
c.2072G= (p.Trp691=)
n.1393G=
n.874G=
c.5573G= (p.Trp1858=)
c.1897G=
c.2084G= (p.Trp695=)
c.*5293G= (n.*5293G=)
c.*24G= (n.*24G=)
c.440G= (p.Trp147=)
c.983G= (p.Trp328=)
c.209G= (p.Trp70=)
n.5646G=
n.5687G=
17g.43045760C>GCA10590296BRCA1c.5507G>C (p.Trp1836Ser)
c.5510G>C (p.Trp1837Ser)
c.5384G>C (p.Trp1795Ser)
c.5504G>C (p.Trp1835Ser)
c.5432G>C (p.Trp1811Ser)
c.2198G>C (p.Trp733Ser)
c.2060G>C (p.Trp687Ser)
c.4622G>C (p.Trp1541Ser)
c.5387G>C (p.Trp1796Ser)
c.5576G>C (p.Trp1859Ser)
c.5369G>C (p.Trp1790Ser)
c.2072G>C (p.Trp691Ser)
n.1393G>C
n.874G>C
c.5573G>C (p.Trp1858Ser)
c.1897G>C
c.2084G>C (p.Trp695Ser)
c.*5293G>C (n.*5293G>C)
c.*24G>C (n.*24G>C)
c.440G>C (p.Trp147Ser)
c.983G>C (p.Trp328Ser)
c.209G>C (p.Trp70Ser)
n.5646G>C
n.5687G>C
 ClinVar dbSNP
17g.43045760C>TCA003684BRCA1c.5507G>A (p.Trp1836Ter)
c.5510G>A (p.Trp1837Ter)
c.5384G>A (p.Trp1795Ter)
c.5504G>A (p.Trp1835Ter)
c.5432G>A (p.Trp1811Ter)
c.2198G>A (p.Trp733Ter)
c.2060G>A (p.Trp687Ter)
c.4622G>A (p.Trp1541Ter)
c.5387G>A (p.Trp1796Ter)
c.5576G>A (p.Trp1859Ter)
c.5369G>A (p.Trp1790Ter)
c.2072G>A (p.Trp691Ter)
n.1393G>A
n.874G>A
c.5573G>A (p.Trp1858Ter)
c.1897G>A
c.2084G>A (p.Trp695Ter)
c.*5293G>A (n.*5293G>A)
c.*24G>A (n.*24G>A)
c.440G>A (p.Trp147Ter)
c.983G>A (p.Trp328Ter)
c.209G>A (p.Trp70Ter)
n.5646G>A
n.5687G>A
 ClinVar dbSNP
17g.43045761_43045762delCA645373148BRCA1c.5506_5507del (p.Trp1836GlyfsTer?)
c.5509_5510del (p.Trp1837GlyfsTer?)
c.5383_5384del (p.Trp1795GlyfsTer?)
c.5503_5504del (p.Trp1835GlyfsTer?)
c.5431_5432del (p.Trp1811GlyfsTer?)
c.2197_2198del (p.Trp733GlyfsTer?)
c.2059_2060del (p.Trp687GlyfsTer?)
c.4621_4622del (p.Trp1541GlyfsTer?)
c.5386_5387del (p.Trp1796GlyfsTer?)
c.5575_5576del (p.Trp1859GlyfsTer?)
c.5368_5369del (p.Trp1790GlyfsTer?)
c.2071_2072del (p.Trp691GlyfsTer?)
n.1392_1393del
n.873_874del
c.5572_5573del (p.Trp1858GlyfsTer?)
c.1896_1897del
c.2083_2084del (p.Trp695GlyfsTer?)
c.*5292_*5293del (n.*5292_*5293del)
c.*23_*24del (n.*23_*24del)
c.439_440del (p.Trp147GlyfsTer?)
c.982_983del (p.Trp328GlyfsTer?)
c.208_209del (p.Trp70GlyfsTer?)
n.5645_5646del
n.5686_5687del
 ClinVar dbSNP
17g.43045763_43045787delCA10589586BRCA1c.5483_5507del (p.Glu1828GlyfsTer6)
c.5486_5510del (p.Glu1829GlyfsTer6)
c.5360_5384del (p.Glu1787GlyfsTer6)
c.5480_5504del (p.Glu1827GlyfsTer6)
c.5408_5432del (p.Glu1803GlyfsTer6)
c.2174_2198del (p.Glu725GlyfsTer6)
c.2036_2060del (p.Glu679GlyfsTer6)
c.4598_4622del (p.Glu1533GlyfsTer6)
c.5363_5387del (p.Glu1788GlyfsTer6)
c.5552_5576del (p.Glu1851GlyfsTer6)
c.5345_5369del (p.Glu1782GlyfsTer6)
c.2048_2072del (p.Glu683GlyfsTer6)
n.1369_1393del
n.850_874del
c.5549_5573del (p.Glu1850GlyfsTer6)
c.1873_1897del
c.2060_2084del (p.Glu687GlyfsTer6)
c.*5269_*5293del (n.*5269_*5293del)
c.2100_*24del (n.[c.2100_*24del;Ter700TrpextTer28])
c.416_440del (p.Glu139GlyfsTer6)
c.959_983del (p.Glu320GlyfsTer6)
c.185_209del (p.Glu62GlyfsTer6)
n.5622_5646del
n.5663_5687del
 ClinVar dbSNP
17g.43045761A=CA2260761110BRCA1c.5506T= (p.Trp1836=)
c.5509T= (p.Trp1837=)
c.5383T= (p.Trp1795=)
c.5503T= (p.Trp1835=)
c.5431T= (p.Trp1811=)
c.2197T= (p.Trp733=)
c.2059T= (p.Trp687=)
c.4621T= (p.Trp1541=)
c.5386T= (p.Trp1796=)
c.5575T= (p.Trp1859=)
c.5368T= (p.Trp1790=)
c.2071T= (p.Trp691=)
n.1392T=
n.873T=
c.5572T= (p.Trp1858=)
c.1896T=
c.2083T= (p.Trp695=)
c.*5292T= (n.*5292T=)
c.*23T= (n.*23T=)
c.439T= (p.Trp147=)
c.982T= (p.Trp328=)
c.208T= (p.Trp70=)
n.5645T=
n.5686T=
17g.43045761A>CCA003681BRCA1c.5506T>G (p.Trp1836Gly)
c.5509T>G (p.Trp1837Gly)
c.5383T>G (p.Trp1795Gly)
c.5503T>G (p.Trp1835Gly)
c.5431T>G (p.Trp1811Gly)
c.2197T>G (p.Trp733Gly)
c.2059T>G (p.Trp687Gly)
c.4621T>G (p.Trp1541Gly)
c.5386T>G (p.Trp1796Gly)
c.5575T>G (p.Trp1859Gly)
c.5368T>G (p.Trp1790Gly)
c.2071T>G (p.Trp691Gly)
n.1392T>G
n.873T>G
c.5572T>G (p.Trp1858Gly)
c.1896T>G
c.2083T>G (p.Trp695Gly)
c.*5292T>G (n.*5292T>G)
c.*23T>G (n.*23T>G)
c.439T>G (p.Trp147Gly)
c.982T>G (p.Trp328Gly)
c.208T>G (p.Trp70Gly)
n.5645T>G
n.5686T>G
 ClinVar dbSNP
17g.43045761A>GCA003680BRCA1c.5506T>C (p.Trp1836Arg)
c.5509T>C (p.Trp1837Arg)
c.5383T>C (p.Trp1795Arg)
c.5503T>C (p.Trp1835Arg)
c.5431T>C (p.Trp1811Arg)
c.2197T>C (p.Trp733Arg)
c.2059T>C (p.Trp687Arg)
c.4621T>C (p.Trp1541Arg)
c.5386T>C (p.Trp1796Arg)
c.5575T>C (p.Trp1859Arg)
c.5368T>C (p.Trp1790Arg)
c.2071T>C (p.Trp691Arg)
n.1392T>C
n.873T>C
c.5572T>C (p.Trp1858Arg)
c.1896T>C
c.2083T>C (p.Trp695Arg)
c.*5292T>C (n.*5292T>C)
c.*23T>C (n.*23T>C)
c.439T>C (p.Trp147Arg)
c.982T>C (p.Trp328Arg)
c.208T>C (p.Trp70Arg)
n.5645T>C
n.5686T>C
 ClinVar dbSNP gnomAD v4
17g.43045761A>TCA10590297BRCA1c.5506T>A (p.Trp1836Arg)
c.5509T>A (p.Trp1837Arg)
c.5383T>A (p.Trp1795Arg)
c.5503T>A (p.Trp1835Arg)
c.5431T>A (p.Trp1811Arg)
c.2197T>A (p.Trp733Arg)
c.2059T>A (p.Trp687Arg)
c.4621T>A (p.Trp1541Arg)
c.5386T>A (p.Trp1796Arg)
c.5575T>A (p.Trp1859Arg)
c.5368T>A (p.Trp1790Arg)
c.2071T>A (p.Trp691Arg)
n.1392T>A
n.873T>A
c.5572T>A (p.Trp1858Arg)
c.1896T>A
c.2083T>A (p.Trp695Arg)
c.*5292T>A (n.*5292T>A)
c.*23T>A (n.*23T>A)
c.439T>A (p.Trp147Arg)
c.982T>A (p.Trp328Arg)
c.208T>A (p.Trp70Arg)
n.5645T>A
n.5686T>A
 ClinVar dbSNP
17g.43045762C>ACA10590298BRCA1c.5505G>T (p.Glu1835Asp)
c.5508G>T (p.Glu1836Asp)
c.5382G>T (p.Glu1794Asp)
c.5502G>T (p.Glu1834Asp)
c.5430G>T (p.Glu1810Asp)
c.2196G>T (p.Glu732Asp)
c.2058G>T (p.Glu686Asp)
c.4620G>T (p.Glu1540Asp)
c.5385G>T (p.Glu1795Asp)
c.5574G>T (p.Glu1858Asp)
c.5367G>T (p.Glu1789Asp)
c.2070G>T (p.Glu690Asp)
n.1391G>T
n.872G>T
c.5571G>T (p.Glu1857Asp)
c.1895G>T
c.2082G>T (p.Glu694Asp)
c.*5291G>T (n.*5291G>T)
c.*22G>T (n.*22G>T)
c.438G>T (p.Glu146Asp)
c.981G>T (p.Glu327Asp)
c.207G>T (p.Glu69Asp)
n.5644G>T
n.5685G>T
 ClinVar dbSNP
17g.43045762C=CA2260761111BRCA1c.5505G= (p.Glu1835=)
c.5508G= (p.Glu1836=)
c.5382G= (p.Glu1794=)
c.5502G= (p.Glu1834=)
c.5430G= (p.Glu1810=)
c.2196G= (p.Glu732=)
c.2058G= (p.Glu686=)
c.4620G= (p.Glu1540=)
c.5385G= (p.Glu1795=)
c.5574G= (p.Glu1858=)
c.5367G= (p.Glu1789=)
c.2070G= (p.Glu690=)
n.1391G=
n.872G=
c.5571G= (p.Glu1857=)
c.1895G=
c.2082G= (p.Glu694=)
c.*5291G= (n.*5291G=)
c.*22G= (n.*22G=)
c.438G= (p.Glu146=)
c.981G= (p.Glu327=)
c.207G= (p.Glu69=)
n.5644G=
n.5685G=
17g.43045762C>GCA10590299BRCA1c.5505G>C (p.Glu1835Asp)
c.5508G>C (p.Glu1836Asp)
c.5382G>C (p.Glu1794Asp)
c.5502G>C (p.Glu1834Asp)
c.5430G>C (p.Glu1810Asp)
c.2196G>C (p.Glu732Asp)
c.2058G>C (p.Glu686Asp)
c.4620G>C (p.Glu1540Asp)
c.5385G>C (p.Glu1795Asp)
c.5574G>C (p.Glu1858Asp)
c.5367G>C (p.Glu1789Asp)
c.2070G>C (p.Glu690Asp)
n.1391G>C
n.872G>C
c.5571G>C (p.Glu1857Asp)
c.1895G>C
c.2082G>C (p.Glu694Asp)
c.*5291G>C (n.*5291G>C)
c.*22G>C (n.*22G>C)
c.438G>C (p.Glu146Asp)
c.981G>C (p.Glu327Asp)
c.207G>C (p.Glu69Asp)
n.5644G>C
n.5685G>C
 ClinVar dbSNP
17g.43045762C>TCA500142908BRCA1c.5505G>A (p.Glu1835=)
c.5508G>A (p.Glu1836=)
c.5382G>A (p.Glu1794=)
c.5502G>A (p.Glu1834=)
c.5430G>A (p.Glu1810=)
c.2196G>A (p.Glu732=)
c.2058G>A (p.Glu686=)
c.4620G>A (p.Glu1540=)
c.5385G>A (p.Glu1795=)
c.5574G>A (p.Glu1858=)
c.5367G>A (p.Glu1789=)
c.2070G>A (p.Glu690=)
n.1391G>A
n.872G>A
c.5571G>A (p.Glu1857=)
c.1895G>A
c.2082G>A (p.Glu694=)
c.*5291G>A (n.*5291G>A)
c.*22G>A (n.*22G>A)
c.438G>A (p.Glu146=)
c.981G>A (p.Glu327=)
c.207G>A (p.Glu69=)
n.5644G>A
n.5685G>A
 ClinVar dbSNP
17g.43045765_43045766delCA2695226104BRCA1c.5504_5505del (p.Glu1835ValfsTer?)
c.5507_5508del (p.Glu1836ValfsTer?)
c.5381_5382del (p.Glu1794ValfsTer?)
c.5501_5502del (p.Glu1834ValfsTer?)
c.5429_5430del (p.Glu1810ValfsTer?)
c.2195_2196del (p.Glu732ValfsTer?)
c.2057_2058del (p.Glu686ValfsTer?)
c.4619_4620del (p.Glu1540ValfsTer?)
c.5384_5385del (p.Glu1795ValfsTer?)
c.5573_5574del (p.Glu1858ValfsTer?)
c.5366_5367del (p.Glu1789ValfsTer?)
c.2069_2070del (p.Glu690ValfsTer?)
n.1390_1391del
n.871_872del
c.5570_5571del (p.Glu1857ValfsTer?)
c.1894_1895del
c.2081_2082del (p.Glu694ValfsTer?)
c.*5290_*5291del (n.*5290_*5291del)
c.*21_*22del (n.*21_*22del)
c.437_438del (p.Glu146ValfsTer?)
c.980_981del (p.Glu327ValfsTer?)
c.206_207del (p.Glu69ValfsTer?)
n.5643_5644del
n.5684_5685del
17g.43045763T>ACA10590300BRCA1c.5504A>T (p.Glu1835Val)
c.5507A>T (p.Glu1836Val)
c.5381A>T (p.Glu1794Val)
c.5501A>T (p.Glu1834Val)
c.5429A>T (p.Glu1810Val)
c.2195A>T (p.Glu732Val)
c.2057A>T (p.Glu686Val)
c.4619A>T (p.Glu1540Val)
c.5384A>T (p.Glu1795Val)
c.5573A>T (p.Glu1858Val)
c.5366A>T (p.Glu1789Val)
c.2069A>T (p.Glu690Val)
n.1390A>T
n.871A>T
c.5570A>T (p.Glu1857Val)
c.1894A>T
c.2081A>T (p.Glu694Val)
c.*5290A>T (n.*5290A>T)
c.*21A>T (n.*21A>T)
c.437A>T (p.Glu146Val)
c.980A>T (p.Glu327Val)
c.206A>T (p.Glu69Val)
n.5643A>T
n.5684A>T
 ClinVar dbSNP
17g.43045763T>CCA10590301BRCA1c.5504A>G (p.Glu1835Gly)
c.5507A>G (p.Glu1836Gly)
c.5381A>G (p.Glu1794Gly)
c.5501A>G (p.Glu1834Gly)
c.5429A>G (p.Glu1810Gly)
c.2195A>G (p.Glu732Gly)
c.2057A>G (p.Glu686Gly)
c.4619A>G (p.Glu1540Gly)
c.5384A>G (p.Glu1795Gly)
c.5573A>G (p.Glu1858Gly)
c.5366A>G (p.Glu1789Gly)
c.2069A>G (p.Glu690Gly)
n.1390A>G
n.871A>G
c.5570A>G (p.Glu1857Gly)
c.1894A>G
c.2081A>G (p.Glu694Gly)
c.*5290A>G (n.*5290A>G)
c.*21A>G (n.*21A>G)
c.437A>G (p.Glu146Gly)
c.980A>G (p.Glu327Gly)
c.206A>G (p.Glu69Gly)
n.5643A>G
n.5684A>G
 ClinVar dbSNP
17g.43045763T>GCA10590302BRCA1c.5504A>C (p.Glu1835Ala)
c.5507A>C (p.Glu1836Ala)
c.5381A>C (p.Glu1794Ala)
c.5501A>C (p.Glu1834Ala)
c.5429A>C (p.Glu1810Ala)
c.2195A>C (p.Glu732Ala)
c.2057A>C (p.Glu686Ala)
c.4619A>C (p.Glu1540Ala)
c.5384A>C (p.Glu1795Ala)
c.5573A>C (p.Glu1858Ala)
c.5366A>C (p.Glu1789Ala)
c.2069A>C (p.Glu690Ala)
n.1390A>C
n.871A>C
c.5570A>C (p.Glu1857Ala)
c.1894A>C
c.2081A>C (p.Glu694Ala)
c.*5290A>C (n.*5290A>C)
c.*21A>C (n.*21A>C)
c.437A>C (p.Glu146Ala)
c.980A>C (p.Glu327Ala)
c.206A>C (p.Glu69Ala)
n.5643A>C
n.5684A>C
 ClinVar dbSNP
17g.43045763T=CA2260761112BRCA1c.5504A= (p.Glu1835=)
c.5507A= (p.Glu1836=)
c.5381A= (p.Glu1794=)
c.5501A= (p.Glu1834=)
c.5429A= (p.Glu1810=)
c.2195A= (p.Glu732=)
c.2057A= (p.Glu686=)
c.4619A= (p.Glu1540=)
c.5384A= (p.Glu1795=)
c.5573A= (p.Glu1858=)
c.5366A= (p.Glu1789=)
c.2069A= (p.Glu690=)
n.1390A=
n.871A=
c.5570A= (p.Glu1857=)
c.1894A=
c.2081A= (p.Glu694=)
c.*5290A= (n.*5290A=)
c.*21A= (n.*21A=)
c.437A= (p.Glu146=)
c.980A= (p.Glu327=)
c.206A= (p.Glu69=)
n.5643A=
n.5684A=
17g.43045763_43045767delinsTCTCGCA2260761113BRCA1c.5500_5504delinsCGAGA (p.Arg1834=)
c.5503_5507delinsCGAGA (p.Arg1835=)
c.5377_5381delinsCGAGA (p.Arg1793=)
c.5497_5501delinsCGAGA (p.Arg1833=)
c.5425_5429delinsCGAGA (p.Arg1809=)
c.2191_2195delinsCGAGA (p.Arg731=)
c.2053_2057delinsCGAGA (p.Arg685=)
c.4615_4619delinsCGAGA (p.Arg1539=)
c.5380_5384delinsCGAGA (p.Arg1794=)
c.5569_5573delinsCGAGA (p.Arg1857=)
c.5362_5366delinsCGAGA (p.Arg1788=)
c.2065_2069delinsCGAGA (p.Arg689=)
n.1386_1390delinsCGAGA
n.867_871delinsCGAGA
c.5566_5570delinsCGAGA (p.Arg1856=)
c.1890_1894delinsCGAGA
c.2077_2081delinsCGAGA (p.Arg693=)
c.*5286_*5290delinsCGAGA (n.*5286_*5290delinsCGAGA)
c.*17_*21delinsCGAGA (n.*17_*21delinsCGAGA)
c.433_437delinsCGAGA (p.Arg145=)
c.976_980delinsCGAGA (p.Arg326=)
c.202_206delinsCGAGA (p.Arg68=)
n.5639_5643delinsCGAGA
n.5680_5684delinsCGAGA
17g.43045763_43045774delinsTCTCGGGTCACCCA2260761114BRCA1c.5493_5504delinsGGTGACCCGAGA (p.Val1831=)
c.5496_5507delinsGGTGACCCGAGA (p.Val1832=)
c.5370_5381delinsGGTGACCCGAGA (p.Val1790=)
c.5490_5501delinsGGTGACCCGAGA (p.Val1830=)
c.5418_5429delinsGGTGACCCGAGA (p.Val1806=)
c.2184_2195delinsGGTGACCCGAGA (p.Val728=)
c.2046_2057delinsGGTGACCCGAGA (p.Val682=)
c.4608_4619delinsGGTGACCCGAGA (p.Val1536=)
c.5373_5384delinsGGTGACCCGAGA (p.Val1791=)
c.5562_5573delinsGGTGACCCGAGA (p.Val1854=)
c.5355_5366delinsGGTGACCCGAGA (p.Val1785=)
c.2058_2069delinsGGTGACCCGAGA (p.Val686=)
n.1379_1390delinsGGTGACCCGAGA
n.860_871delinsGGTGACCCGAGA
c.5559_5570delinsGGTGACCCGAGA (p.Val1853=)
c.1883_1894delinsGGTGACCCGAGA
c.2070_2081delinsGGTGACCCGAGA (p.Val690=)
c.*5279_*5290delinsGGTGACCCGAGA (n.*5279_*5290delinsGGTGACCCGAGA)
c.*10_*21delinsGGTGACCCGAGA (n.*10_*21delinsGGTGACCCGAGA)
c.426_437delinsGGTGACCCGAGA (p.Val142=)
c.969_980delinsGGTGACCCGAGA (p.Val323=)
c.195_206delinsGGTGACCCGAGA (p.Val65=)
n.5632_5643delinsGGTGACCCGAGA
n.5673_5684delinsGGTGACCCGAGA
17g.43045764delCA2499224344BRCA1c.5503del (p.Glu1835SerfsTer7)
c.5506del (p.Glu1836SerfsTer7)
c.5380del (p.Glu1794SerfsTer7)
c.5500del (p.Glu1834SerfsTer7)
c.5428del (p.Glu1810SerfsTer7)
c.2194del (p.Glu732SerfsTer7)
c.2056del (p.Glu686SerfsTer7)
c.4618del (p.Glu1540SerfsTer7)
c.5383del (p.Glu1795SerfsTer7)
c.5572del (p.Glu1858SerfsTer7)
c.5365del (p.Glu1789SerfsTer7)
c.2068del (p.Glu690SerfsTer7)
n.1389del
n.870del
c.5569del (p.Glu1857SerfsTer7)
c.1893del
c.2080del (p.Glu694SerfsTer7)
c.*5289del (n.*5289del)
c.*20del (n.*20del)
c.436del (p.Glu146SerfsTer7)
c.979del (p.Glu327SerfsTer7)
c.205del (p.Glu69SerfsTer7)
n.5642del
n.5683del
17g.43045764C>ACA003679BRCA1c.5503G>T (p.Glu1835Ter)
c.5506G>T (p.Glu1836Ter)
c.5380G>T (p.Glu1794Ter)
c.5500G>T (p.Glu1834Ter)
c.5428G>T (p.Glu1810Ter)
c.2194G>T (p.Glu732Ter)
c.2056G>T (p.Glu686Ter)
c.4618G>T (p.Glu1540Ter)
c.5383G>T (p.Glu1795Ter)
c.5572G>T (p.Glu1858Ter)
c.5365G>T (p.Glu1789Ter)
c.2068G>T (p.Glu690Ter)
n.1389G>T
n.870G>T
c.5569G>T (p.Glu1857Ter)
c.1893G>T
c.2080G>T (p.Glu694Ter)
c.*5289G>T (n.*5289G>T)
c.*20G>T (n.*20G>T)
c.436G>T (p.Glu146Ter)
c.979G>T (p.Glu327Ter)
c.205G>T (p.Glu69Ter)
n.5642G>T
n.5683G>T
 ClinVar dbSNP
17g.43045764C=CA2260761115BRCA1c.5503G= (p.Glu1835=)
c.5506G= (p.Glu1836=)
c.5380G= (p.Glu1794=)
c.5500G= (p.Glu1834=)
c.5428G= (p.Glu1810=)
c.2194G= (p.Glu732=)
c.2056G= (p.Glu686=)
c.4618G= (p.Glu1540=)
c.5383G= (p.Glu1795=)
c.5572G= (p.Glu1858=)
c.5365G= (p.Glu1789=)
c.2068G= (p.Glu690=)
n.1389G=
n.870G=
c.5569G= (p.Glu1857=)
c.1893G=
c.2080G= (p.Glu694=)
c.*5289G= (n.*5289G=)
c.*20G= (n.*20G=)
c.436G= (p.Glu146=)
c.979G= (p.Glu327=)
c.205G= (p.Glu69=)
n.5642G=
n.5683G=
17g.43045764C>GCA10590303BRCA1c.5503G>C (p.Glu1835Gln)
c.5506G>C (p.Glu1836Gln)
c.5380G>C (p.Glu1794Gln)
c.5500G>C (p.Glu1834Gln)
c.5428G>C (p.Glu1810Gln)
c.2194G>C (p.Glu732Gln)
c.2056G>C (p.Glu686Gln)
c.4618G>C (p.Glu1540Gln)
c.5383G>C (p.Glu1795Gln)
c.5572G>C (p.Glu1858Gln)
c.5365G>C (p.Glu1789Gln)
c.2068G>C (p.Glu690Gln)
n.1389G>C
n.870G>C
c.5569G>C (p.Glu1857Gln)
c.1893G>C
c.2080G>C (p.Glu694Gln)
c.*5289G>C (n.*5289G>C)
c.*20G>C (n.*20G>C)
c.436G>C (p.Glu146Gln)
c.979G>C (p.Glu327Gln)
c.205G>C (p.Glu69Gln)
n.5642G>C
n.5683G>C
 ClinVar dbSNP
17g.43045764C>TCA003678BRCA1c.5503G>A (p.Glu1835Lys)
c.5506G>A (p.Glu1836Lys)
c.5380G>A (p.Glu1794Lys)
c.5500G>A (p.Glu1834Lys)
c.5428G>A (p.Glu1810Lys)
c.2194G>A (p.Glu732Lys)
c.2056G>A (p.Glu686Lys)
c.4618G>A (p.Glu1540Lys)
c.5383G>A (p.Glu1795Lys)
c.5572G>A (p.Glu1858Lys)
c.5365G>A (p.Glu1789Lys)
c.2068G>A (p.Glu690Lys)
n.1389G>A
n.870G>A
c.5569G>A (p.Glu1857Lys)
c.1893G>A
c.2080G>A (p.Glu694Lys)
c.*5289G>A (n.*5289G>A)
c.*20G>A (n.*20G>A)
c.436G>A (p.Glu146Lys)
c.979G>A (p.Glu327Lys)
c.205G>A (p.Glu69Lys)
n.5642G>A
n.5683G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045764_43045767delCA10589587BRCA1c.5500_5503del (p.Arg1834SerfsTer7)
c.5503_5506del (p.Arg1835SerfsTer7)
c.5377_5380del (p.Arg1793SerfsTer7)
c.5497_5500del (p.Arg1833SerfsTer7)
c.5425_5428del (p.Arg1809SerfsTer7)
c.2191_2194del (p.Arg731SerfsTer7)
c.2053_2056del (p.Arg685SerfsTer7)
c.4615_4618del (p.Arg1539SerfsTer7)
c.5380_5383del (p.Arg1794SerfsTer7)
c.5569_5572del (p.Arg1857SerfsTer7)
c.5362_5365del (p.Arg1788SerfsTer7)
c.2065_2068del (p.Arg689SerfsTer7)
n.1386_1389del
n.867_870del
c.5566_5569del (p.Arg1856SerfsTer7)
c.1890_1893del
c.2077_2080del (p.Arg693SerfsTer7)
c.*5286_*5289del (n.*5286_*5289del)
c.*17_*20del (n.*17_*20del)
c.433_436del (p.Arg145SerfsTer7)
c.976_979del (p.Arg326SerfsTer7)
c.202_205del (p.Arg68SerfsTer7)
n.5639_5642del
n.5680_5683del
 ClinVar dbSNP
17g.43045764_43045774delinsTCA003665BRCA1c.5493_5503delinsA (p.Val1832SerfsTer7)
c.5496_5506delinsA (p.Val1833SerfsTer7)
c.5370_5380delinsA (p.Val1791SerfsTer7)
c.5490_5500delinsA (p.Val1831SerfsTer7)
c.5418_5428delinsA (p.Val1807SerfsTer7)
c.2184_2194delinsA (p.Val729SerfsTer7)
c.2046_2056delinsA (p.Val683SerfsTer7)
c.4608_4618delinsA (p.Val1537SerfsTer7)
c.5373_5383delinsA (p.Val1792SerfsTer7)
c.5562_5572delinsA (p.Val1855SerfsTer7)
c.5355_5365delinsA (p.Val1786SerfsTer7)
c.2058_2068delinsA (p.Val687SerfsTer7)
n.1379_1389delinsA
n.860_870delinsA
c.5559_5569delinsA (p.Val1854SerfsTer7)
c.1883_1893delinsA
c.2070_2080delinsA (p.Val691SerfsTer7)
c.*5279_*5289delinsA (n.*5279_*5289delinsA)
c.*10_*20delinsA (n.*10_*20delinsA)
c.426_436delinsA (p.Val143SerfsTer7)
c.969_979delinsA (p.Val324SerfsTer7)
c.195_205delinsA (p.Val66SerfsTer7)
n.5632_5642delinsA
n.5673_5683delinsA
 ClinVar dbSNP
17g.43045765_43045774delCA003666BRCA1c.5494_5503del (p.Val1832SerfsTer7)
c.5497_5506del (p.Val1833SerfsTer7)
c.5371_5380del (p.Val1791SerfsTer7)
c.5491_5500del (p.Val1831SerfsTer7)
c.5419_5428del (p.Val1807SerfsTer7)
c.2185_2194del (p.Val729SerfsTer7)
c.2047_2056del (p.Val683SerfsTer7)
c.4609_4618del (p.Val1537SerfsTer7)
c.5374_5383del (p.Val1792SerfsTer7)
c.5563_5572del (p.Val1855SerfsTer7)
c.5356_5365del (p.Val1786SerfsTer7)
c.2059_2068del (p.Val687SerfsTer7)
n.1380_1389del
n.861_870del
c.5560_5569del (p.Val1854SerfsTer7)
c.1884_1893del
c.2071_2080del (p.Val691SerfsTer7)
c.*5280_*5289del (n.*5280_*5289del)
c.*11_*20del (n.*11_*20del)
c.427_436del (p.Val143SerfsTer7)
c.970_979del (p.Val324SerfsTer7)
c.196_205del (p.Val66SerfsTer7)
n.5633_5642del
n.5674_5683del
 ClinVar dbSNP
17g.43045765T>ACA500142909BRCA1c.5502A>T (p.Arg1834=)
c.5505A>T (p.Arg1835=)
c.5379A>T (p.Arg1793=)
c.5499A>T (p.Arg1833=)
c.5427A>T (p.Arg1809=)
c.2193A>T (p.Arg731=)
c.2055A>T (p.Arg685=)
c.4617A>T (p.Arg1539=)
c.5382A>T (p.Arg1794=)
c.5571A>T (p.Arg1857=)
c.5364A>T (p.Arg1788=)
c.2067A>T (p.Arg689=)
n.1388A>T
n.869A>T
c.5568A>T (p.Arg1856=)
c.1892A>T
c.2079A>T (p.Arg693=)
c.*5288A>T (n.*5288A>T)
c.*19A>T (n.*19A>T)
c.435A>T (p.Arg145=)
c.978A>T (p.Arg326=)
c.204A>T (p.Arg68=)
n.5641A>T
n.5682A>T
 ClinVar dbSNP
17g.43045765T>CCA500142910BRCA1c.5502A>G (p.Arg1834=)
c.5505A>G (p.Arg1835=)
c.5379A>G (p.Arg1793=)
c.5499A>G (p.Arg1833=)
c.5427A>G (p.Arg1809=)
c.2193A>G (p.Arg731=)
c.2055A>G (p.Arg685=)
c.4617A>G (p.Arg1539=)
c.5382A>G (p.Arg1794=)
c.5571A>G (p.Arg1857=)
c.5364A>G (p.Arg1788=)
c.2067A>G (p.Arg689=)
n.1388A>G
n.869A>G
c.5568A>G (p.Arg1856=)
c.1892A>G
c.2079A>G (p.Arg693=)
c.*5288A>G (n.*5288A>G)
c.*19A>G (n.*19A>G)
c.435A>G (p.Arg145=)
c.978A>G (p.Arg326=)
c.204A>G (p.Arg68=)
n.5641A>G
n.5682A>G
 ClinVar dbSNP
17g.43045765T>GCA500142911BRCA1c.5502A>C (p.Arg1834=)
c.5505A>C (p.Arg1835=)
c.5379A>C (p.Arg1793=)
c.5499A>C (p.Arg1833=)
c.5427A>C (p.Arg1809=)
c.2193A>C (p.Arg731=)
c.2055A>C (p.Arg685=)
c.4617A>C (p.Arg1539=)
c.5382A>C (p.Arg1794=)
c.5571A>C (p.Arg1857=)
c.5364A>C (p.Arg1788=)
c.2067A>C (p.Arg689=)
n.1388A>C
n.869A>C
c.5568A>C (p.Arg1856=)
c.1892A>C
c.2079A>C (p.Arg693=)
c.*5288A>C (n.*5288A>C)
c.*19A>C (n.*19A>C)
c.435A>C (p.Arg145=)
c.978A>C (p.Arg326=)
c.204A>C (p.Arg68=)
n.5641A>C
n.5682A>C
 ClinVar dbSNP gnomAD v4
17g.43045765T=CA2260761116BRCA1c.5502A= (p.Arg1834=)
c.5505A= (p.Arg1835=)
c.5379A= (p.Arg1793=)
c.5499A= (p.Arg1833=)
c.5427A= (p.Arg1809=)
c.2193A= (p.Arg731=)
c.2055A= (p.Arg685=)
c.4617A= (p.Arg1539=)
c.5382A= (p.Arg1794=)
c.5571A= (p.Arg1857=)
c.5364A= (p.Arg1788=)
c.2067A= (p.Arg689=)
n.1388A=
n.869A=
c.5568A= (p.Arg1856=)
c.1892A=
c.2079A= (p.Arg693=)
c.*5288A= (n.*5288A=)
c.*19A= (n.*19A=)
c.435A= (p.Arg145=)
c.978A= (p.Arg326=)
c.204A= (p.Arg68=)
n.5641A=
n.5682A=
17g.43045766C>ACA10590304BRCA1c.5501G>T (p.Arg1834Leu)
c.5504G>T (p.Arg1835Leu)
c.5378G>T (p.Arg1793Leu)
c.5498G>T (p.Arg1833Leu)
c.5426G>T (p.Arg1809Leu)
c.2192G>T (p.Arg731Leu)
c.2054G>T (p.Arg685Leu)
c.4616G>T (p.Arg1539Leu)
c.5381G>T (p.Arg1794Leu)
c.5570G>T (p.Arg1857Leu)
c.5363G>T (p.Arg1788Leu)
c.2066G>T (p.Arg689Leu)
n.1387G>T
n.868G>T
c.5567G>T (p.Arg1856Leu)
c.1891G>T
c.2078G>T (p.Arg693Leu)
c.*5287G>T (n.*5287G>T)
c.*18G>T (n.*18G>T)
c.434G>T (p.Arg145Leu)
c.977G>T (p.Arg326Leu)
c.203G>T (p.Arg68Leu)
n.5640G>T
n.5681G>T
 ClinVar dbSNP
17g.43045766C=CA2260761117BRCA1c.5501G= (p.Arg1834=)
c.5504G= (p.Arg1835=)
c.5378G= (p.Arg1793=)
c.5498G= (p.Arg1833=)
c.5426G= (p.Arg1809=)
c.2192G= (p.Arg731=)
c.2054G= (p.Arg685=)
c.4616G= (p.Arg1539=)
c.5381G= (p.Arg1794=)
c.5570G= (p.Arg1857=)
c.5363G= (p.Arg1788=)
c.2066G= (p.Arg689=)
n.1387G=
n.868G=
c.5567G= (p.Arg1856=)
c.1891G=
c.2078G= (p.Arg693=)
c.*5287G= (n.*5287G=)
c.*18G= (n.*18G=)
c.434G= (p.Arg145=)
c.977G= (p.Arg326=)
c.203G= (p.Arg68=)
n.5640G=
n.5681G=
17g.43045766C>GCA003677BRCA1c.5501G>C (p.Arg1834Pro)
c.5504G>C (p.Arg1835Pro)
c.5378G>C (p.Arg1793Pro)
c.5498G>C (p.Arg1833Pro)
c.5426G>C (p.Arg1809Pro)
c.2192G>C (p.Arg731Pro)
c.2054G>C (p.Arg685Pro)
c.4616G>C (p.Arg1539Pro)
c.5381G>C (p.Arg1794Pro)
c.5570G>C (p.Arg1857Pro)
c.5363G>C (p.Arg1788Pro)
c.2066G>C (p.Arg689Pro)
n.1387G>C
n.868G>C
c.5567G>C (p.Arg1856Pro)
c.1891G>C
c.2078G>C (p.Arg693Pro)
c.*5287G>C (n.*5287G>C)
c.*18G>C (n.*18G>C)
c.434G>C (p.Arg145Pro)
c.977G>C (p.Arg326Pro)
c.203G>C (p.Arg68Pro)
n.5640G>C
n.5681G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045766C>TCA003676BRCA1c.5501G>A (p.Arg1834Gln)
c.5504G>A (p.Arg1835Gln)
c.5378G>A (p.Arg1793Gln)
c.5498G>A (p.Arg1833Gln)
c.5426G>A (p.Arg1809Gln)
c.2192G>A (p.Arg731Gln)
c.2054G>A (p.Arg685Gln)
c.4616G>A (p.Arg1539Gln)
c.5381G>A (p.Arg1794Gln)
c.5570G>A (p.Arg1857Gln)
c.5363G>A (p.Arg1788Gln)
c.2066G>A (p.Arg689Gln)
n.1387G>A
n.868G>A
c.5567G>A (p.Arg1856Gln)
c.1891G>A
c.2078G>A (p.Arg693Gln)
c.*5287G>A (n.*5287G>A)
c.*18G>A (n.*18G>A)
c.434G>A (p.Arg145Gln)
c.977G>A (p.Arg326Gln)
c.203G>A (p.Arg68Gln)
n.5640G>A
n.5681G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045766_43045767delinsCGCA2260761118BRCA1c.5500_5501delinsCG (p.Arg1834=)
c.5503_5504delinsCG (p.Arg1835=)
c.5377_5378delinsCG (p.Arg1793=)
c.5497_5498delinsCG (p.Arg1833=)
c.5425_5426delinsCG (p.Arg1809=)
c.2191_2192delinsCG (p.Arg731=)
c.2053_2054delinsCG (p.Arg685=)
c.4615_4616delinsCG (p.Arg1539=)
c.5380_5381delinsCG (p.Arg1794=)
c.5569_5570delinsCG (p.Arg1857=)
c.5362_5363delinsCG (p.Arg1788=)
c.2065_2066delinsCG (p.Arg689=)
n.1386_1387delinsCG
n.867_868delinsCG
c.5566_5567delinsCG (p.Arg1856=)
c.1890_1891delinsCG
c.2077_2078delinsCG (p.Arg693=)
c.*5286_*5287delinsCG (n.*5286_*5287delinsCG)
c.*17_*18delinsCG (n.*17_*18delinsCG)
c.433_434delinsCG (p.Arg145=)
c.976_977delinsCG (p.Arg326=)
c.202_203delinsCG (p.Arg68=)
n.5639_5640delinsCG
n.5680_5681delinsCG
17g.43045767G>ACA003674BRCA1c.5500C>T (p.Arg1834Ter)
c.5503C>T (p.Arg1835Ter)
c.5377C>T (p.Arg1793Ter)
c.5497C>T (p.Arg1833Ter)
c.5425C>T (p.Arg1809Ter)
c.2191C>T (p.Arg731Ter)
c.2053C>T (p.Arg685Ter)
c.4615C>T (p.Arg1539Ter)
c.5380C>T (p.Arg1794Ter)
c.5569C>T (p.Arg1857Ter)
c.5362C>T (p.Arg1788Ter)
c.2065C>T (p.Arg689Ter)
n.1386C>T
n.867C>T
c.5566C>T (p.Arg1856Ter)
c.1890C>T
c.2077C>T (p.Arg693Ter)
c.*5286C>T (n.*5286C>T)
c.*17C>T (n.*17C>T)
c.433C>T (p.Arg145Ter)
c.976C>T (p.Arg326Ter)
c.202C>T (p.Arg68Ter)
n.5639C>T
n.5680C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045767G>CCA10590305BRCA1c.5500C>G (p.Arg1834Gly)
c.5503C>G (p.Arg1835Gly)
c.5377C>G (p.Arg1793Gly)
c.5497C>G (p.Arg1833Gly)
c.5425C>G (p.Arg1809Gly)
c.2191C>G (p.Arg731Gly)
c.2053C>G (p.Arg685Gly)
c.4615C>G (p.Arg1539Gly)
c.5380C>G (p.Arg1794Gly)
c.5569C>G (p.Arg1857Gly)
c.5362C>G (p.Arg1788Gly)
c.2065C>G (p.Arg689Gly)
n.1386C>G
n.867C>G
c.5566C>G (p.Arg1856Gly)
c.1890C>G
c.2077C>G (p.Arg693Gly)
c.*5286C>G (n.*5286C>G)
c.*17C>G (n.*17C>G)
c.433C>G (p.Arg145Gly)
c.976C>G (p.Arg326Gly)
c.202C>G (p.Arg68Gly)
n.5639C>G
n.5680C>G
 ClinVar dbSNP
17g.43045767G=CA2260761119BRCA1c.5500C= (p.Arg1834=)
c.5503C= (p.Arg1835=)
c.5377C= (p.Arg1793=)
c.5497C= (p.Arg1833=)
c.5425C= (p.Arg1809=)
c.2191C= (p.Arg731=)
c.2053C= (p.Arg685=)
c.4615C= (p.Arg1539=)
c.5380C= (p.Arg1794=)
c.5569C= (p.Arg1857=)
c.5362C= (p.Arg1788=)
c.2065C= (p.Arg689=)
n.1386C=
n.867C=
c.5566C= (p.Arg1856=)
c.1890C=
c.2077C= (p.Arg693=)
c.*5286C= (n.*5286C=)
c.*17C= (n.*17C=)
c.433C= (p.Arg145=)
c.976C= (p.Arg326=)
c.202C= (p.Arg68=)
n.5639C=
n.5680C=
17g.43045767G>TCA500142913BRCA1c.5500C>A (p.Arg1834=)
c.5503C>A (p.Arg1835=)
c.5377C>A (p.Arg1793=)
c.5497C>A (p.Arg1833=)
c.5425C>A (p.Arg1809=)
c.2191C>A (p.Arg731=)
c.2053C>A (p.Arg685=)
c.4615C>A (p.Arg1539=)
c.5380C>A (p.Arg1794=)
c.5569C>A (p.Arg1857=)
c.5362C>A (p.Arg1788=)
c.2065C>A (p.Arg689=)
n.1386C>A
n.867C>A
c.5566C>A (p.Arg1856=)
c.1890C>A
c.2077C>A (p.Arg693=)
c.*5286C>A (n.*5286C>A)
c.*17C>A (n.*17C>A)
c.433C>A (p.Arg145=)
c.976C>A (p.Arg326=)
c.202C>A (p.Arg68=)
n.5639C>A
n.5680C>A
 ClinVar dbSNP
17g.43045769dupCA10589589BRCA1c.5500dup (p.Arg1834ProfsTer?)
c.5503dup (p.Arg1835ProfsTer?)
c.5377dup (p.Arg1793ProfsTer?)
c.5497dup (p.Arg1833ProfsTer?)
c.5425dup (p.Arg1809ProfsTer?)
c.2191dup (p.Arg731ProfsTer?)
c.2053dup (p.Arg685ProfsTer?)
c.4615dup (p.Arg1539ProfsTer?)
c.5380dup (p.Arg1794ProfsTer?)
c.5569dup (p.Arg1857ProfsTer?)
c.5362dup (p.Arg1788ProfsTer?)
c.2065dup (p.Arg689ProfsTer?)
n.1386dup
n.867dup
c.5566dup (p.Arg1856ProfsTer?)
c.1890dup
c.2077dup (p.Arg693ProfsTer?)
c.*5286dup (n.*5286dup)
c.*17dup (n.*17dup)
c.433dup (p.Arg145ProfsTer?)
c.976dup (p.Arg326ProfsTer?)
c.202dup (p.Arg68ProfsTer?)
n.5639dup
n.5680dup
 ClinVar dbSNP
17g.43045768_43045769dupCA10589588BRCA1c.5499_5500dup (p.Arg1834ProfsTer9)
c.5502_5503dup (p.Arg1835ProfsTer9)
c.5376_5377dup (p.Arg1793ProfsTer9)
c.5496_5497dup (p.Arg1833ProfsTer9)
c.5424_5425dup (p.Arg1809ProfsTer9)
c.2190_2191dup (p.Arg731ProfsTer9)
c.2052_2053dup (p.Arg685ProfsTer9)
c.4614_4615dup (p.Arg1539ProfsTer9)
c.5379_5380dup (p.Arg1794ProfsTer9)
c.5568_5569dup (p.Arg1857ProfsTer9)
c.5361_5362dup (p.Arg1788ProfsTer9)
c.2064_2065dup (p.Arg689ProfsTer9)
n.1385_1386dup
n.866_867dup
c.5565_5566dup (p.Arg1856ProfsTer9)
c.1889_1890dup
c.2076_2077dup (p.Arg693ProfsTer9)
c.*5285_*5286dup (n.*5285_*5286dup)
c.*16_*17dup (n.*16_*17dup)
c.432_433dup (p.Arg145ProfsTer9)
c.975_976dup (p.Arg326ProfsTer9)
c.201_202dup (p.Arg68ProfsTer9)
n.5638_5639dup
n.5679_5680dup
 ClinVar dbSNP
17g.43045769delCA003675BRCA1c.5500del (p.Arg1834GlufsTer8)
c.5503del (p.Arg1835GlufsTer8)
c.5377del (p.Arg1793GlufsTer8)
c.5497del (p.Arg1833GlufsTer8)
c.5425del (p.Arg1809GlufsTer8)
c.2191del (p.Arg731GlufsTer8)
c.2053del (p.Arg685GlufsTer8)
c.4615del (p.Arg1539GlufsTer8)
c.5380del (p.Arg1794GlufsTer8)
c.5569del (p.Arg1857GlufsTer8)
c.5362del (p.Arg1788GlufsTer8)
c.2065del (p.Arg689GlufsTer8)
n.1386del
n.867del
c.5566del (p.Arg1856GlufsTer8)
c.1890del
c.2077del (p.Arg693GlufsTer8)
c.*5286del (n.*5286del)
c.*17del (n.*17del)
c.433del (p.Arg145GlufsTer8)
c.976del (p.Arg326GlufsTer8)
c.202del (p.Arg68GlufsTer8)
n.5639del
n.5680del
 ClinVar dbSNP
17g.43045768_43045769delCA2580612622BRCA1c.5499_5500del (p.Glu1835ValfsTer?)
c.5502_5503del (p.Glu1836ValfsTer?)
c.5376_5377del (p.Glu1794ValfsTer?)
c.5496_5497del (p.Glu1834ValfsTer?)
c.5424_5425del (p.Glu1810ValfsTer?)
c.2190_2191del (p.Glu732ValfsTer?)
c.2052_2053del (p.Glu686ValfsTer?)
c.4614_4615del (p.Glu1540ValfsTer?)
c.5379_5380del (p.Glu1795ValfsTer?)
c.5568_5569del (p.Glu1858ValfsTer?)
c.5361_5362del (p.Glu1789ValfsTer?)
c.2064_2065del (p.Glu690ValfsTer?)
n.1385_1386del
n.866_867del
c.5565_5566del (p.Glu1857ValfsTer?)
c.1889_1890del
c.2076_2077del (p.Glu694ValfsTer?)
c.*5285_*5286del (n.*5285_*5286del)
c.*16_*17del (n.*16_*17del)
c.432_433del (p.Glu146ValfsTer?)
c.975_976del (p.Glu327ValfsTer?)
c.201_202del (p.Glu69ValfsTer?)
n.5638_5639del
n.5679_5680del
 ClinVar
17g.43045768G>ACA16608431BRCA1c.5499C>T (p.Thr1833=)
c.5502C>T (p.Thr1834=)
c.5376C>T (p.Thr1792=)
c.5496C>T (p.Thr1832=)
c.5424C>T (p.Thr1808=)
c.2190C>T (p.Thr730=)
c.2052C>T (p.Thr684=)
c.4614C>T (p.Thr1538=)
c.5379C>T (p.Thr1793=)
c.5568C>T (p.Thr1856=)
c.5361C>T (p.Thr1787=)
c.2064C>T (p.Thr688=)
n.1385C>T
n.866C>T
c.5565C>T (p.Thr1855=)
c.1889C>T
c.2076C>T (p.Thr692=)
c.*5285C>T (n.*5285C>T)
c.*16C>T (n.*16C>T)
c.432C>T (p.Thr144=)
c.975C>T (p.Thr325=)
c.201C>T (p.Thr67=)
n.5638C>T
n.5679C>T
 ClinVar dbSNP
17g.43045768G>CCA500142915BRCA1c.5499C>G (p.Thr1833=)
c.5502C>G (p.Thr1834=)
c.5376C>G (p.Thr1792=)
c.5496C>G (p.Thr1832=)
c.5424C>G (p.Thr1808=)
c.2190C>G (p.Thr730=)
c.2052C>G (p.Thr684=)
c.4614C>G (p.Thr1538=)
c.5379C>G (p.Thr1793=)
c.5568C>G (p.Thr1856=)
c.5361C>G (p.Thr1787=)
c.2064C>G (p.Thr688=)
n.1385C>G
n.866C>G
c.5565C>G (p.Thr1855=)
c.1889C>G
c.2076C>G (p.Thr692=)
c.*5285C>G (n.*5285C>G)
c.*16C>G (n.*16C>G)
c.432C>G (p.Thr144=)
c.975C>G (p.Thr325=)
c.201C>G (p.Thr67=)
n.5638C>G
n.5679C>G
 ClinVar dbSNP
17g.43045768G=CA2260761120BRCA1c.5499C= (p.Thr1833=)
c.5502C= (p.Thr1834=)
c.5376C= (p.Thr1792=)
c.5496C= (p.Thr1832=)
c.5424C= (p.Thr1808=)
c.2190C= (p.Thr730=)
c.2052C= (p.Thr684=)
c.4614C= (p.Thr1538=)
c.5379C= (p.Thr1793=)
c.5568C= (p.Thr1856=)
c.5361C= (p.Thr1787=)
c.2064C= (p.Thr688=)
n.1385C=
n.866C=
c.5565C= (p.Thr1855=)
c.1889C=
c.2076C= (p.Thr692=)
c.*5285C= (n.*5285C=)
c.*16C= (n.*16C=)
c.432C= (p.Thr144=)
c.975C= (p.Thr325=)
c.201C= (p.Thr67=)
n.5638C=
n.5679C=
17g.43045768G>TCA500142914BRCA1c.5499C>A (p.Thr1833=)
c.5502C>A (p.Thr1834=)
c.5376C>A (p.Thr1792=)
c.5496C>A (p.Thr1832=)
c.5424C>A (p.Thr1808=)
c.2190C>A (p.Thr730=)
c.2052C>A (p.Thr684=)
c.4614C>A (p.Thr1538=)
c.5379C>A (p.Thr1793=)
c.5568C>A (p.Thr1856=)
c.5361C>A (p.Thr1787=)
c.2064C>A (p.Thr688=)
n.1385C>A
n.866C>A
c.5565C>A (p.Thr1855=)
c.1889C>A
c.2076C>A (p.Thr692=)
c.*5285C>A (n.*5285C>A)
c.*16C>A (n.*16C>A)
c.432C>A (p.Thr144=)
c.975C>A (p.Thr325=)
c.201C>A (p.Thr67=)
n.5638C>A
n.5679C>A
 ClinVar dbSNP
17g.43045769G>ACA003671BRCA1c.5498C>T (p.Thr1833Ile)
c.5501C>T (p.Thr1834Ile)
c.5375C>T (p.Thr1792Ile)
c.5495C>T (p.Thr1832Ile)
c.5423C>T (p.Thr1808Ile)
c.2189C>T (p.Thr730Ile)
c.2051C>T (p.Thr684Ile)
c.4613C>T (p.Thr1538Ile)
c.5378C>T (p.Thr1793Ile)
c.5567C>T (p.Thr1856Ile)
c.5360C>T (p.Thr1787Ile)
c.2063C>T (p.Thr688Ile)
n.1384C>T
n.865C>T
c.5564C>T (p.Thr1855Ile)
c.1888C>T
c.2075C>T (p.Thr692Ile)
c.*5284C>T (n.*5284C>T)
c.*15C>T (n.*15C>T)
c.431C>T (p.Thr144Ile)
c.974C>T (p.Thr325Ile)
c.200C>T (p.Thr67Ile)
n.5637C>T
n.5678C>T
 ClinVar dbSNP ExAC gnomAD v2
17g.43045769G>CCA10590306BRCA1c.5498C>G (p.Thr1833Ser)
c.5501C>G (p.Thr1834Ser)
c.5375C>G (p.Thr1792Ser)
c.5495C>G (p.Thr1832Ser)
c.5423C>G (p.Thr1808Ser)
c.2189C>G (p.Thr730Ser)
c.2051C>G (p.Thr684Ser)
c.4613C>G (p.Thr1538Ser)
c.5378C>G (p.Thr1793Ser)
c.5567C>G (p.Thr1856Ser)
c.5360C>G (p.Thr1787Ser)
c.2063C>G (p.Thr688Ser)
n.1384C>G
n.865C>G
c.5564C>G (p.Thr1855Ser)
c.1888C>G
c.2075C>G (p.Thr692Ser)
c.*5284C>G (n.*5284C>G)
c.*15C>G (n.*15C>G)
c.431C>G (p.Thr144Ser)
c.974C>G (p.Thr325Ser)
c.200C>G (p.Thr67Ser)
n.5637C>G
n.5678C>G
 ClinVar dbSNP
17g.43045769G=CA2260761121BRCA1c.5498C= (p.Thr1833=)
c.5501C= (p.Thr1834=)
c.5375C= (p.Thr1792=)
c.5495C= (p.Thr1832=)
c.5423C= (p.Thr1808=)
c.2189C= (p.Thr730=)
c.2051C= (p.Thr684=)
c.4613C= (p.Thr1538=)
c.5378C= (p.Thr1793=)
c.5567C= (p.Thr1856=)
c.5360C= (p.Thr1787=)
c.2063C= (p.Thr688=)
n.1384C=
n.865C=
c.5564C= (p.Thr1855=)
c.1888C=
c.2075C= (p.Thr692=)
c.*5284C= (n.*5284C=)
c.*15C= (n.*15C=)
c.431C= (p.Thr144=)
c.974C= (p.Thr325=)
c.200C= (p.Thr67=)
n.5637C=
n.5678C=
17g.43045769G>TCA10590307BRCA1c.5498C>A (p.Thr1833Asn)
c.5501C>A (p.Thr1834Asn)
c.5375C>A (p.Thr1792Asn)
c.5495C>A (p.Thr1832Asn)
c.5423C>A (p.Thr1808Asn)
c.2189C>A (p.Thr730Asn)
c.2051C>A (p.Thr684Asn)
c.4613C>A (p.Thr1538Asn)
c.5378C>A (p.Thr1793Asn)
c.5567C>A (p.Thr1856Asn)
c.5360C>A (p.Thr1787Asn)
c.2063C>A (p.Thr688Asn)
n.1384C>A
n.865C>A
c.5564C>A (p.Thr1855Asn)
c.1888C>A
c.2075C>A (p.Thr692Asn)
c.*5284C>A (n.*5284C>A)
c.*15C>A (n.*15C>A)
c.431C>A (p.Thr144Asn)
c.974C>A (p.Thr325Asn)
c.200C>A (p.Thr67Asn)
n.5637C>A
n.5678C>A
 ClinVar dbSNP
17g.43045770T>ACA10590308BRCA1c.5497A>T (p.Thr1833Ser)
c.5500A>T (p.Thr1834Ser)
c.5374A>T (p.Thr1792Ser)
c.5494A>T (p.Thr1832Ser)
c.5422A>T (p.Thr1808Ser)
c.2188A>T (p.Thr730Ser)
c.2050A>T (p.Thr684Ser)
c.4612A>T (p.Thr1538Ser)
c.5377A>T (p.Thr1793Ser)
c.5566A>T (p.Thr1856Ser)
c.5359A>T (p.Thr1787Ser)
c.2062A>T (p.Thr688Ser)
n.1383A>T
n.864A>T
c.5563A>T (p.Thr1855Ser)
c.1887A>T
c.2074A>T (p.Thr692Ser)
c.*5283A>T (n.*5283A>T)
c.*14A>T (n.*14A>T)
c.430A>T (p.Thr144Ser)
c.973A>T (p.Thr325Ser)
c.199A>T (p.Thr67Ser)
n.5636A>T
n.5677A>T
 ClinVar dbSNP
17g.43045770T>CCA10590309BRCA1c.5497A>G (p.Thr1833Ala)
c.5500A>G (p.Thr1834Ala)
c.5374A>G (p.Thr1792Ala)
c.5494A>G (p.Thr1832Ala)
c.5422A>G (p.Thr1808Ala)
c.2188A>G (p.Thr730Ala)
c.2050A>G (p.Thr684Ala)
c.4612A>G (p.Thr1538Ala)
c.5377A>G (p.Thr1793Ala)
c.5566A>G (p.Thr1856Ala)
c.5359A>G (p.Thr1787Ala)
c.2062A>G (p.Thr688Ala)
n.1383A>G
n.864A>G
c.5563A>G (p.Thr1855Ala)
c.1887A>G
c.2074A>G (p.Thr692Ala)
c.*5283A>G (n.*5283A>G)
c.*14A>G (n.*14A>G)
c.430A>G (p.Thr144Ala)
c.973A>G (p.Thr325Ala)
c.199A>G (p.Thr67Ala)
n.5636A>G
n.5677A>G
 ClinVar dbSNP
17g.43045770T>GCA10590310BRCA1c.5497A>C (p.Thr1833Pro)
c.5500A>C (p.Thr1834Pro)
c.5374A>C (p.Thr1792Pro)
c.5494A>C (p.Thr1832Pro)
c.5422A>C (p.Thr1808Pro)
c.2188A>C (p.Thr730Pro)
c.2050A>C (p.Thr684Pro)
c.4612A>C (p.Thr1538Pro)
c.5377A>C (p.Thr1793Pro)
c.5566A>C (p.Thr1856Pro)
c.5359A>C (p.Thr1787Pro)
c.2062A>C (p.Thr688Pro)
n.1383A>C
n.864A>C
c.5563A>C (p.Thr1855Pro)
c.1887A>C
c.2074A>C (p.Thr692Pro)
c.*5283A>C (n.*5283A>C)
c.*14A>C (n.*14A>C)
c.430A>C (p.Thr144Pro)
c.973A>C (p.Thr325Pro)
c.199A>C (p.Thr67Pro)
n.5636A>C
n.5677A>C
 ClinVar dbSNP
17g.43045770T=CA2260761123BRCA1c.5497A= (p.Thr1833=)
c.5500A= (p.Thr1834=)
c.5374A= (p.Thr1792=)
c.5494A= (p.Thr1832=)
c.5422A= (p.Thr1808=)
c.2188A= (p.Thr730=)
c.2050A= (p.Thr684=)
c.4612A= (p.Thr1538=)
c.5377A= (p.Thr1793=)
c.5566A= (p.Thr1856=)
c.5359A= (p.Thr1787=)
c.2062A= (p.Thr688=)
n.1383A=
n.864A=
c.5563A= (p.Thr1855=)
c.1887A=
c.2074A= (p.Thr692=)
c.*5283A= (n.*5283A=)
c.*14A= (n.*14A=)
c.430A= (p.Thr144=)
c.973A= (p.Thr325=)
c.199A= (p.Thr67=)
n.5636A=
n.5677A=
17g.43045770_43045774delinsTCACCCA2260761122BRCA1c.5493_5497delinsGGTGA (p.Val1831=)
c.5496_5500delinsGGTGA (p.Val1832=)
c.5370_5374delinsGGTGA (p.Val1790=)
c.5490_5494delinsGGTGA (p.Val1830=)
c.5418_5422delinsGGTGA (p.Val1806=)
c.2184_2188delinsGGTGA (p.Val728=)
c.2046_2050delinsGGTGA (p.Val682=)
c.4608_4612delinsGGTGA (p.Val1536=)
c.5373_5377delinsGGTGA (p.Val1791=)
c.5562_5566delinsGGTGA (p.Val1854=)
c.5355_5359delinsGGTGA (p.Val1785=)
c.2058_2062delinsGGTGA (p.Val686=)
n.1379_1383delinsGGTGA
n.860_864delinsGGTGA
c.5559_5563delinsGGTGA (p.Val1853=)
c.1883_1887delinsGGTGA
c.2070_2074delinsGGTGA (p.Val690=)
c.*5279_*5283delinsGGTGA (n.*5279_*5283delinsGGTGA)
c.*10_*14delinsGGTGA (n.*10_*14delinsGGTGA)
c.426_430delinsGGTGA (p.Val142=)
c.969_973delinsGGTGA (p.Val323=)
c.195_199delinsGGTGA (p.Val65=)
n.5632_5636delinsGGTGA
n.5673_5677delinsGGTGA
17g.43045771C>ACA500142922BRCA1c.5496G>T (p.Val1832=)
c.5499G>T (p.Val1833=)
c.5373G>T (p.Val1791=)
c.5493G>T (p.Val1831=)
c.5421G>T (p.Val1807=)
c.2187G>T (p.Val729=)
c.2049G>T (p.Val683=)
c.4611G>T (p.Val1537=)
c.5376G>T (p.Val1792=)
c.5565G>T (p.Val1855=)
c.5358G>T (p.Val1786=)
c.2061G>T (p.Val687=)
n.1382G>T
n.863G>T
c.5562G>T (p.Val1854=)
c.1886G>T
c.2073G>T (p.Val691=)
c.*5282G>T (n.*5282G>T)
c.*13G>T (n.*13G>T)
c.429G>T (p.Val143=)
c.972G>T (p.Val324=)
c.198G>T (p.Val66=)
n.5635G>T
n.5676G>T
 ClinVar dbSNP
17g.43045771C=CA2260761124BRCA1c.5496G= (p.Val1832=)
c.5499G= (p.Val1833=)
c.5373G= (p.Val1791=)
c.5493G= (p.Val1831=)
c.5421G= (p.Val1807=)
c.2187G= (p.Val729=)
c.2049G= (p.Val683=)
c.4611G= (p.Val1537=)
c.5376G= (p.Val1792=)
c.5565G= (p.Val1855=)
c.5358G= (p.Val1786=)
c.2061G= (p.Val687=)
n.1382G=
n.863G=
c.5562G= (p.Val1854=)
c.1886G=
c.2073G= (p.Val691=)
c.*5282G= (n.*5282G=)
c.*13G= (n.*13G=)
c.429G= (p.Val143=)
c.972G= (p.Val324=)
c.198G= (p.Val66=)
n.5635G=
n.5676G=
17g.43045771C>GCA500142919BRCA1c.5496G>C (p.Val1832=)
c.5499G>C (p.Val1833=)
c.5373G>C (p.Val1791=)
c.5493G>C (p.Val1831=)
c.5421G>C (p.Val1807=)
c.2187G>C (p.Val729=)
c.2049G>C (p.Val683=)
c.4611G>C (p.Val1537=)
c.5376G>C (p.Val1792=)
c.5565G>C (p.Val1855=)
c.5358G>C (p.Val1786=)
c.2061G>C (p.Val687=)
n.1382G>C
n.863G>C
c.5562G>C (p.Val1854=)
c.1886G>C
c.2073G>C (p.Val691=)
c.*5282G>C (n.*5282G>C)
c.*13G>C (n.*13G>C)
c.429G>C (p.Val143=)
c.972G>C (p.Val324=)
c.198G>C (p.Val66=)
n.5635G>C
n.5676G>C
 ClinVar dbSNP
17g.43045771C>TCA500142920BRCA1c.5496G>A (p.Val1832=)
c.5499G>A (p.Val1833=)
c.5373G>A (p.Val1791=)
c.5493G>A (p.Val1831=)
c.5421G>A (p.Val1807=)
c.2187G>A (p.Val729=)
c.2049G>A (p.Val683=)
c.4611G>A (p.Val1537=)
c.5376G>A (p.Val1792=)
c.5565G>A (p.Val1855=)
c.5358G>A (p.Val1786=)
c.2061G>A (p.Val687=)
n.1382G>A
n.863G>A
c.5562G>A (p.Val1854=)
c.1886G>A
c.2073G>A (p.Val691=)
c.*5282G>A (n.*5282G>A)
c.*13G>A (n.*13G>A)
c.429G>A (p.Val143=)
c.972G>A (p.Val324=)
c.198G>A (p.Val66=)
n.5635G>A
n.5676G>A
 ClinVar dbSNP
17g.43045771_43045774delCA10581594BRCA1c.5493_5496del (p.Val1832ProfsTer9)
c.5496_5499del (p.Val1833ProfsTer9)
c.5370_5373del (p.Val1791ProfsTer9)
c.5490_5493del (p.Val1831ProfsTer9)
c.5418_5421del (p.Val1807ProfsTer9)
c.2184_2187del (p.Val729ProfsTer9)
c.2046_2049del (p.Val683ProfsTer9)
c.4608_4611del (p.Val1537ProfsTer9)
c.5373_5376del (p.Val1792ProfsTer9)
c.5562_5565del (p.Val1855ProfsTer9)
c.5355_5358del (p.Val1786ProfsTer9)
c.2058_2061del (p.Val687ProfsTer9)
n.1379_1382del
n.860_863del
c.5559_5562del (p.Val1854ProfsTer9)
c.1883_1886del
c.2070_2073del (p.Val691ProfsTer9)
c.*5279_*5282del (n.*5279_*5282del)
c.*10_*13del (n.*10_*13del)
c.426_429del (p.Val143ProfsTer9)
c.969_972del (p.Val324ProfsTer9)
c.195_198del (p.Val66ProfsTer9)
n.5632_5635del
n.5673_5676del
 ClinVar dbSNP
17g.43045772A=CA2260761125BRCA1c.5495T= (p.Val1832=)
c.5498T= (p.Val1833=)
c.5372T= (p.Val1791=)
c.5492T= (p.Val1831=)
c.5420T= (p.Val1807=)
c.2186T= (p.Val729=)
c.2048T= (p.Val683=)
c.4610T= (p.Val1537=)
c.5375T= (p.Val1792=)
c.5564T= (p.Val1855=)
c.5357T= (p.Val1786=)
c.2060T= (p.Val687=)
n.1381T=
n.862T=
c.5561T= (p.Val1854=)
c.1885T=
c.2072T= (p.Val691=)
c.*5281T= (n.*5281T=)
c.*12T= (n.*12T=)
c.428T= (p.Val143=)
c.971T= (p.Val324=)
c.197T= (p.Val66=)
n.5634T=
n.5675T=
17g.43045772A>CCA10590311BRCA1c.5495T>G (p.Val1832Gly)
c.5498T>G (p.Val1833Gly)
c.5372T>G (p.Val1791Gly)
c.5492T>G (p.Val1831Gly)
c.5420T>G (p.Val1807Gly)
c.2186T>G (p.Val729Gly)
c.2048T>G (p.Val683Gly)
c.4610T>G (p.Val1537Gly)
c.5375T>G (p.Val1792Gly)
c.5564T>G (p.Val1855Gly)
c.5357T>G (p.Val1786Gly)
c.2060T>G (p.Val687Gly)
n.1381T>G
n.862T>G
c.5561T>G (p.Val1854Gly)
c.1885T>G
c.2072T>G (p.Val691Gly)
c.*5281T>G (n.*5281T>G)
c.*12T>G (n.*12T>G)
c.428T>G (p.Val143Gly)
c.971T>G (p.Val324Gly)
c.197T>G (p.Val66Gly)
n.5634T>G
n.5675T>G
 ClinVar
17g.43045772A>GCA003670BRCA1c.5495T>C (p.Val1832Ala)
c.5498T>C (p.Val1833Ala)
c.5372T>C (p.Val1791Ala)
c.5492T>C (p.Val1831Ala)
c.5420T>C (p.Val1807Ala)
c.2186T>C (p.Val729Ala)
c.2048T>C (p.Val683Ala)
c.4610T>C (p.Val1537Ala)
c.5375T>C (p.Val1792Ala)
c.5564T>C (p.Val1855Ala)
c.5357T>C (p.Val1786Ala)
c.2060T>C (p.Val687Ala)
n.1381T>C
n.862T>C
c.5561T>C (p.Val1854Ala)
c.1885T>C
c.2072T>C (p.Val691Ala)
c.*5281T>C (n.*5281T>C)
c.*12T>C (n.*12T>C)
c.428T>C (p.Val143Ala)
c.971T>C (p.Val324Ala)
c.197T>C (p.Val66Ala)
n.5634T>C
n.5675T>C
 ClinVar dbSNP
17g.43045772A>TCA10590312BRCA1c.5495T>A (p.Val1832Glu)
c.5498T>A (p.Val1833Glu)
c.5372T>A (p.Val1791Glu)
c.5492T>A (p.Val1831Glu)
c.5420T>A (p.Val1807Glu)
c.2186T>A (p.Val729Glu)
c.2048T>A (p.Val683Glu)
c.4610T>A (p.Val1537Glu)
c.5375T>A (p.Val1792Glu)
c.5564T>A (p.Val1855Glu)
c.5357T>A (p.Val1786Glu)
c.2060T>A (p.Val687Glu)
n.1381T>A
n.862T>A
c.5561T>A (p.Val1854Glu)
c.1885T>A
c.2072T>A (p.Val691Glu)
c.*5281T>A (n.*5281T>A)
c.*12T>A (n.*12T>A)
c.428T>A (p.Val143Glu)
c.971T>A (p.Val324Glu)
c.197T>A (p.Val66Glu)
n.5634T>A
n.5675T>A
 ClinVar dbSNP
17g.43045773C>ACA10590313BRCA1c.5494G>T (p.Val1832Leu)
c.5497G>T (p.Val1833Leu)
c.5371G>T (p.Val1791Leu)
c.5491G>T (p.Val1831Leu)
c.5419G>T (p.Val1807Leu)
c.2185G>T (p.Val729Leu)
c.2047G>T (p.Val683Leu)
c.4609G>T (p.Val1537Leu)
c.5374G>T (p.Val1792Leu)
c.5563G>T (p.Val1855Leu)
c.5356G>T (p.Val1786Leu)
c.2059G>T (p.Val687Leu)
n.1380G>T
n.861G>T
c.5560G>T (p.Val1854Leu)
c.1884G>T
c.2071G>T (p.Val691Leu)
c.*5280G>T (n.*5280G>T)
c.*11G>T (n.*11G>T)
c.427G>T (p.Val143Leu)
c.970G>T (p.Val324Leu)
c.196G>T (p.Val66Leu)
n.5633G>T
n.5674G>T
 ClinVar gnomAD v4
17g.43045773C=CA2260761126BRCA1c.5494G= (p.Val1832=)
c.5497G= (p.Val1833=)
c.5371G= (p.Val1791=)
c.5491G= (p.Val1831=)
c.5419G= (p.Val1807=)
c.2185G= (p.Val729=)
c.2047G= (p.Val683=)
c.4609G= (p.Val1537=)
c.5374G= (p.Val1792=)
c.5563G= (p.Val1855=)
c.5356G= (p.Val1786=)
c.2059G= (p.Val687=)
n.1380G=
n.861G=
c.5560G= (p.Val1854=)
c.1884G=
c.2071G= (p.Val691=)
c.*5280G= (n.*5280G=)
c.*11G= (n.*11G=)
c.427G= (p.Val143=)
c.970G= (p.Val324=)
c.196G= (p.Val66=)
n.5633G=
n.5674G=
17g.43045773C>GCA10590314BRCA1c.5494G>C (p.Val1832Leu)
c.5497G>C (p.Val1833Leu)
c.5371G>C (p.Val1791Leu)
c.5491G>C (p.Val1831Leu)
c.5419G>C (p.Val1807Leu)
c.2185G>C (p.Val729Leu)
c.2047G>C (p.Val683Leu)
c.4609G>C (p.Val1537Leu)
c.5374G>C (p.Val1792Leu)
c.5563G>C (p.Val1855Leu)
c.5356G>C (p.Val1786Leu)
c.2059G>C (p.Val687Leu)
n.1380G>C
n.861G>C
c.5560G>C (p.Val1854Leu)
c.1884G>C
c.2071G>C (p.Val691Leu)
c.*5280G>C (n.*5280G>C)
c.*11G>C (n.*11G>C)
c.427G>C (p.Val143Leu)
c.970G>C (p.Val324Leu)
c.196G>C (p.Val66Leu)
n.5633G>C
n.5674G>C
 ClinVar dbSNP
17g.43045773C>TCA003667BRCA1c.5494G>A (p.Val1832Met)
c.5497G>A (p.Val1833Met)
c.5371G>A (p.Val1791Met)
c.5491G>A (p.Val1831Met)
c.5419G>A (p.Val1807Met)
c.2185G>A (p.Val729Met)
c.2047G>A (p.Val683Met)
c.4609G>A (p.Val1537Met)
c.5374G>A (p.Val1792Met)
c.5563G>A (p.Val1855Met)
c.5356G>A (p.Val1786Met)
c.2059G>A (p.Val687Met)
n.1380G>A
n.861G>A
c.5560G>A (p.Val1854Met)
c.1884G>A
c.2071G>A (p.Val691Met)
c.*5280G>A (n.*5280G>A)
c.*11G>A (n.*11G>A)
c.427G>A (p.Val143Met)
c.970G>A (p.Val324Met)
c.196G>A (p.Val66Met)
n.5633G>A
n.5674G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045774delCA2573153996BRCA1c.5494del (p.Val1832Ter)
c.5497del (p.Val1833Ter)
c.5371del (p.Val1791Ter)
c.5491del (p.Val1831Ter)
c.5419del (p.Val1807Ter)
c.2185del (p.Val729Ter)
c.2047del (p.Val683Ter)
c.4609del (p.Val1537Ter)
c.5374del (p.Val1792Ter)
c.5563del (p.Val1855Ter)
c.5356del (p.Val1786Ter)
c.2059del (p.Val687Ter)
n.1380del
n.861del
c.5560del (p.Val1854Ter)
c.1884del
c.2071del (p.Val691Ter)
c.*5280del (n.*5280del)
c.*11del (n.*11del)
c.427del (p.Val143Ter)
c.970del (p.Val324Ter)
c.196del (p.Val66Ter)
n.5633del
n.5674del
 ClinVar dbSNP
17g.43045774C>ACA500142926BRCA1c.5493G>T (p.Val1831=)
c.5496G>T (p.Val1832=)
c.5370G>T (p.Val1790=)
c.5490G>T (p.Val1830=)
c.5418G>T (p.Val1806=)
c.2184G>T (p.Val728=)
c.2046G>T (p.Val682=)
c.4608G>T (p.Val1536=)
c.5373G>T (p.Val1791=)
c.5562G>T (p.Val1854=)
c.5355G>T (p.Val1785=)
c.2058G>T (p.Val686=)
n.1379G>T
n.860G>T
c.5559G>T (p.Val1853=)
c.1883G>T
c.2070G>T (p.Val690=)
c.*5279G>T (n.*5279G>T)
c.*10G>T (n.*10G>T)
c.426G>T (p.Val142=)
c.969G>T (p.Val323=)
c.195G>T (p.Val65=)
n.5632G>T
n.5673G>T
 dbSNP
17g.43045774C=CA2260761127BRCA1c.5493G= (p.Val1831=)
c.5496G= (p.Val1832=)
c.5370G= (p.Val1790=)
c.5490G= (p.Val1830=)
c.5418G= (p.Val1806=)
c.2184G= (p.Val728=)
c.2046G= (p.Val682=)
c.4608G= (p.Val1536=)
c.5373G= (p.Val1791=)
c.5562G= (p.Val1854=)
c.5355G= (p.Val1785=)
c.2058G= (p.Val686=)
n.1379G=
n.860G=
c.5559G= (p.Val1853=)
c.1883G=
c.2070G= (p.Val690=)
c.*5279G= (n.*5279G=)
c.*10G= (n.*10G=)
c.426G= (p.Val142=)
c.969G= (p.Val323=)
c.195G= (p.Val65=)
n.5632G=
n.5673G=
17g.43045774C>GCA500142927BRCA1c.5493G>C (p.Val1831=)
c.5496G>C (p.Val1832=)
c.5370G>C (p.Val1790=)
c.5490G>C (p.Val1830=)
c.5418G>C (p.Val1806=)
c.2184G>C (p.Val728=)
c.2046G>C (p.Val682=)
c.4608G>C (p.Val1536=)
c.5373G>C (p.Val1791=)
c.5562G>C (p.Val1854=)
c.5355G>C (p.Val1785=)
c.2058G>C (p.Val686=)
n.1379G>C
n.860G>C
c.5559G>C (p.Val1853=)
c.1883G>C
c.2070G>C (p.Val690=)
c.*5279G>C (n.*5279G>C)
c.*10G>C (n.*10G>C)
c.426G>C (p.Val142=)
c.969G>C (p.Val323=)
c.195G>C (p.Val65=)
n.5632G>C
n.5673G>C
 dbSNP
17g.43045774C>TCA500142928BRCA1c.5493G>A (p.Val1831=)
c.5496G>A (p.Val1832=)
c.5370G>A (p.Val1790=)
c.5490G>A (p.Val1830=)
c.5418G>A (p.Val1806=)
c.2184G>A (p.Val728=)
c.2046G>A (p.Val682=)
c.4608G>A (p.Val1536=)
c.5373G>A (p.Val1791=)
c.5562G>A (p.Val1854=)
c.5355G>A (p.Val1785=)
c.2058G>A (p.Val686=)
n.1379G>A
n.860G>A
c.5559G>A (p.Val1853=)
c.1883G>A
c.2070G>A (p.Val690=)
c.*5279G>A (n.*5279G>A)
c.*10G>A (n.*10G>A)
c.426G>A (p.Val142=)
c.969G>A (p.Val323=)
c.195G>A (p.Val65=)
n.5632G>A
n.5673G>A
 ClinVar dbSNP
17g.43045778_43045790delCA2695201336BRCA1c.5481_5493del (p.Cys1827TrpfsTer2)
c.5484_5496del (p.Cys1828TrpfsTer2)
c.5358_5370del (p.Cys1786TrpfsTer2)
c.5478_5490del (p.Cys1826TrpfsTer2)
c.5406_5418del (p.Cys1802TrpfsTer2)
c.2172_2184del (p.Cys724TrpfsTer2)
c.2034_2046del (p.Cys678TrpfsTer2)
c.4596_4608del (p.Cys1532TrpfsTer2)
c.5361_5373del (p.Cys1787TrpfsTer2)
c.5550_5562del (p.Cys1850TrpfsTer2)
c.5343_5355del (p.Cys1781TrpfsTer2)
c.2046_2058del (p.Cys682TrpfsTer2)
n.1367_1379del
n.848_860del
c.5547_5559del (p.Cys1849TrpfsTer2)
c.1871_1883del
c.2058_2070del (p.Cys686TrpfsTer2)
c.*5267_*5279del (n.*5267_*5279del)
c.2098_*10del (n.[c.2098_*10del;Ter700ValextTer?])
c.414_426del (p.Cys138TrpfsTer2)
c.957_969del (p.Cys319TrpfsTer2)
c.183_195del (p.Cys61TrpfsTer2)
n.5620_5632del
n.5661_5673del
 ClinVar
17g.43045775A=CA2260761128BRCA1c.5492T= (p.Val1831=)
c.5495T= (p.Val1832=)
c.5369T= (p.Val1790=)
c.5489T= (p.Val1830=)
c.5417T= (p.Val1806=)
c.2183T= (p.Val728=)
c.2045T= (p.Val682=)
c.4607T= (p.Val1536=)
c.5372T= (p.Val1791=)
c.5561T= (p.Val1854=)
c.5354T= (p.Val1785=)
c.2057T= (p.Val686=)
n.1378T=
n.859T=
c.5558T= (p.Val1853=)
c.1882T=
c.2069T= (p.Val690=)
c.*5278T= (n.*5278T=)
c.*9T= (n.*9T=)
c.425T= (p.Val142=)
c.968T= (p.Val323=)
c.194T= (p.Val65=)
n.5631T=
n.5672T=
17g.43045775A>CCA10590315BRCA1c.5492T>G (p.Val1831Gly)
c.5495T>G (p.Val1832Gly)
c.5369T>G (p.Val1790Gly)
c.5489T>G (p.Val1830Gly)
c.5417T>G (p.Val1806Gly)
c.2183T>G (p.Val728Gly)
c.2045T>G (p.Val682Gly)
c.4607T>G (p.Val1536Gly)
c.5372T>G (p.Val1791Gly)
c.5561T>G (p.Val1854Gly)
c.5354T>G (p.Val1785Gly)
c.2057T>G (p.Val686Gly)
n.1378T>G
n.859T>G
c.5558T>G (p.Val1853Gly)
c.1882T>G
c.2069T>G (p.Val690Gly)
c.*5278T>G (n.*5278T>G)
c.*9T>G (n.*9T>G)
c.425T>G (p.Val142Gly)
c.968T>G (p.Val323Gly)
c.194T>G (p.Val65Gly)
n.5631T>G
n.5672T>G
 ClinVar dbSNP
17g.43045775A>GCA055224BRCA1c.5492T>C (p.Val1831Ala)
c.5495T>C (p.Val1832Ala)
c.5369T>C (p.Val1790Ala)
c.5489T>C (p.Val1830Ala)
c.5417T>C (p.Val1806Ala)
c.2183T>C (p.Val728Ala)
c.2045T>C (p.Val682Ala)
c.4607T>C (p.Val1536Ala)
c.5372T>C (p.Val1791Ala)
c.5561T>C (p.Val1854Ala)
c.5354T>C (p.Val1785Ala)
c.2057T>C (p.Val686Ala)
n.1378T>C
n.859T>C
c.5558T>C (p.Val1853Ala)
c.1882T>C
c.2069T>C (p.Val690Ala)
c.*5278T>C (n.*5278T>C)
c.*9T>C (n.*9T>C)
c.425T>C (p.Val142Ala)
c.968T>C (p.Val323Ala)
c.194T>C (p.Val65Ala)
n.5631T>C
n.5672T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045775A>TCA10590316BRCA1c.5492T>A (p.Val1831Glu)
c.5495T>A (p.Val1832Glu)
c.5369T>A (p.Val1790Glu)
c.5489T>A (p.Val1830Glu)
c.5417T>A (p.Val1806Glu)
c.2183T>A (p.Val728Glu)
c.2045T>A (p.Val682Glu)
c.4607T>A (p.Val1536Glu)
c.5372T>A (p.Val1791Glu)
c.5561T>A (p.Val1854Glu)
c.5354T>A (p.Val1785Glu)
c.2057T>A (p.Val686Glu)
n.1378T>A
n.859T>A
c.5558T>A (p.Val1853Glu)
c.1882T>A
c.2069T>A (p.Val690Glu)
c.*5278T>A (n.*5278T>A)
c.*9T>A (n.*9T>A)
c.425T>A (p.Val142Glu)
c.968T>A (p.Val323Glu)
c.194T>A (p.Val65Glu)
n.5631T>A
n.5672T>A
 dbSNP
17g.43045775_43045776insAACA658824708BRCA1c.5492_5493insTT (p.Val1832TrpfsTer2)
c.5495_5496insTT (p.Val1833TrpfsTer2)
c.5369_5370insTT (p.Val1791TrpfsTer2)
c.5489_5490insTT (p.Val1831TrpfsTer2)
c.5417_5418insTT (p.Val1807TrpfsTer2)
c.2183_2184insTT (p.Val729TrpfsTer2)
c.2045_2046insTT (p.Val683TrpfsTer2)
c.4607_4608insTT (p.Val1537TrpfsTer2)
c.5372_5373insTT (p.Val1792TrpfsTer2)
c.5561_5562insTT (p.Val1855TrpfsTer2)
c.5354_5355insTT (p.Val1786TrpfsTer2)
c.2057_2058insTT (p.Val687TrpfsTer2)
n.1378_1379insTT
n.859_860insTT
c.5558_5559insTT (p.Val1854TrpfsTer2)
c.1882_1883insTT
c.2069_2070insTT (p.Val691TrpfsTer2)
c.*5278_*5279insTT (n.*5278_*5279insTT)
c.*9_*10insTT (n.*9_*10insTT)
c.425_426insTT (p.Val143TrpfsTer2)
c.968_969insTT (p.Val324TrpfsTer2)
c.194_195insTT (p.Val66TrpfsTer2)
n.5631_5632insTT
n.5672_5673insTT
 ClinVar dbSNP
17g.43045776C>ACA10590317BRCA1c.5491G>T (p.Val1831Leu)
c.5494G>T (p.Val1832Leu)
c.5368G>T (p.Val1790Leu)
c.5488G>T (p.Val1830Leu)
c.5416G>T (p.Val1806Leu)
c.2182G>T (p.Val728Leu)
c.2044G>T (p.Val682Leu)
c.4606G>T (p.Val1536Leu)
c.5371G>T (p.Val1791Leu)
c.5560G>T (p.Val1854Leu)
c.5353G>T (p.Val1785Leu)
c.2056G>T (p.Val686Leu)
n.1377G>T
n.858G>T
c.5557G>T (p.Val1853Leu)
c.1881G>T
c.2068G>T (p.Val690Leu)
c.*5277G>T (n.*5277G>T)
c.*8G>T (n.*8G>T)
c.424G>T (p.Val142Leu)
c.967G>T (p.Val323Leu)
c.193G>T (p.Val65Leu)
n.5630G>T
n.5671G>T
17g.43045776C=CA2260761129BRCA1c.5491G= (p.Val1831=)
c.5494G= (p.Val1832=)
c.5368G= (p.Val1790=)
c.5488G= (p.Val1830=)
c.5416G= (p.Val1806=)
c.2182G= (p.Val728=)
c.2044G= (p.Val682=)
c.4606G= (p.Val1536=)
c.5371G= (p.Val1791=)
c.5560G= (p.Val1854=)
c.5353G= (p.Val1785=)
c.2056G= (p.Val686=)
n.1377G=
n.858G=
c.5557G= (p.Val1853=)
c.1881G=
c.2068G= (p.Val690=)
c.*5277G= (n.*5277G=)
c.*8G= (n.*8G=)
c.424G= (p.Val142=)
c.967G= (p.Val323=)
c.193G= (p.Val65=)
n.5630G=
n.5671G=
17g.43045776C>GCA10590318BRCA1c.5491G>C (p.Val1831Leu)
c.5494G>C (p.Val1832Leu)
c.5368G>C (p.Val1790Leu)
c.5488G>C (p.Val1830Leu)
c.5416G>C (p.Val1806Leu)
c.2182G>C (p.Val728Leu)
c.2044G>C (p.Val682Leu)
c.4606G>C (p.Val1536Leu)
c.5371G>C (p.Val1791Leu)
c.5560G>C (p.Val1854Leu)
c.5353G>C (p.Val1785Leu)
c.2056G>C (p.Val686Leu)
n.1377G>C
n.858G>C
c.5557G>C (p.Val1853Leu)
c.1881G>C
c.2068G>C (p.Val690Leu)
c.*5277G>C (n.*5277G>C)
c.*8G>C (n.*8G>C)
c.424G>C (p.Val142Leu)
c.967G>C (p.Val323Leu)
c.193G>C (p.Val65Leu)
n.5630G>C
n.5671G>C
 ClinVar dbSNP
17g.43045776C>TCA10590319BRCA1c.5491G>A (p.Val1831Met)
c.5494G>A (p.Val1832Met)
c.5368G>A (p.Val1790Met)
c.5488G>A (p.Val1830Met)
c.5416G>A (p.Val1806Met)
c.2182G>A (p.Val728Met)
c.2044G>A (p.Val682Met)
c.4606G>A (p.Val1536Met)
c.5371G>A (p.Val1791Met)
c.5560G>A (p.Val1854Met)
c.5353G>A (p.Val1785Met)
c.2056G>A (p.Val686Met)
n.1377G>A
n.858G>A
c.5557G>A (p.Val1853Met)
c.1881G>A
c.2068G>A (p.Val690Met)
c.*5277G>A (n.*5277G>A)
c.*8G>A (n.*8G>A)
c.424G>A (p.Val142Met)
c.967G>A (p.Val323Met)
c.193G>A (p.Val65Met)
n.5630G>A
n.5671G>A
 ClinVar dbSNP
17g.43045777A=CA2260761131BRCA1c.5490T= (p.Pro1830=)
c.5493T= (p.Pro1831=)
c.5367T= (p.Pro1789=)
c.5487T= (p.Pro1829=)
c.5415T= (p.Pro1805=)
c.2181T= (p.Pro727=)
c.2043T= (p.Pro681=)
c.4605T= (p.Pro1535=)
c.5370T= (p.Pro1790=)
c.5559T= (p.Pro1853=)
c.5352T= (p.Pro1784=)
c.2055T= (p.Pro685=)
n.1376T=
n.857T=
c.5556T= (p.Pro1852=)
c.1880T=
c.2067T= (p.Pro689=)
c.*5276T= (n.*5276T=)
c.*7T= (n.*7T=)
c.423T= (p.Pro141=)
c.966T= (p.Pro322=)
c.192T= (p.Pro64=)
n.5629T=
n.5670T=
17g.43045777A>CCA500142938BRCA1c.5490T>G (p.Pro1830=)
c.5493T>G (p.Pro1831=)
c.5367T>G (p.Pro1789=)
c.5487T>G (p.Pro1829=)
c.5415T>G (p.Pro1805=)
c.2181T>G (p.Pro727=)
c.2043T>G (p.Pro681=)
c.4605T>G (p.Pro1535=)
c.5370T>G (p.Pro1790=)
c.5559T>G (p.Pro1853=)
c.5352T>G (p.Pro1784=)
c.2055T>G (p.Pro685=)
n.1376T>G
n.857T>G
c.5556T>G (p.Pro1852=)
c.1880T>G
c.2067T>G (p.Pro689=)
c.*5276T>G (n.*5276T>G)
c.*7T>G (n.*7T>G)
c.423T>G (p.Pro141=)
c.966T>G (p.Pro322=)
c.192T>G (p.Pro64=)
n.5629T>G
n.5670T>G
 ClinVar dbSNP
17g.43045777A>GCA500142935BRCA1c.5490T>C (p.Pro1830=)
c.5493T>C (p.Pro1831=)
c.5367T>C (p.Pro1789=)
c.5487T>C (p.Pro1829=)
c.5415T>C (p.Pro1805=)
c.2181T>C (p.Pro727=)
c.2043T>C (p.Pro681=)
c.4605T>C (p.Pro1535=)
c.5370T>C (p.Pro1790=)
c.5559T>C (p.Pro1853=)
c.5352T>C (p.Pro1784=)
c.2055T>C (p.Pro685=)
n.1376T>C
n.857T>C
c.5556T>C (p.Pro1852=)
c.1880T>C
c.2067T>C (p.Pro689=)
c.*5276T>C (n.*5276T>C)
c.*7T>C (n.*7T>C)
c.423T>C (p.Pro141=)
c.966T>C (p.Pro322=)
c.192T>C (p.Pro64=)
n.5629T>C
n.5670T>C
 ClinVar dbSNP gnomAD v4
17g.43045777A>TCA500142937BRCA1c.5490T>A (p.Pro1830=)
c.5493T>A (p.Pro1831=)
c.5367T>A (p.Pro1789=)
c.5487T>A (p.Pro1829=)
c.5415T>A (p.Pro1805=)
c.2181T>A (p.Pro727=)
c.2043T>A (p.Pro681=)
c.4605T>A (p.Pro1535=)
c.5370T>A (p.Pro1790=)
c.5559T>A (p.Pro1853=)
c.5352T>A (p.Pro1784=)
c.2055T>A (p.Pro685=)
n.1376T>A
n.857T>A
c.5556T>A (p.Pro1852=)
c.1880T>A
c.2067T>A (p.Pro689=)
c.*5276T>A (n.*5276T>A)
c.*7T>A (n.*7T>A)
c.423T>A (p.Pro141=)
c.966T>A (p.Pro322=)
c.192T>A (p.Pro64=)
n.5629T>A
n.5670T>A
 ClinVar dbSNP
17g.43045777_43045778insAACA10589590BRCA1c.5490_5491insTT (p.Val1831LeufsTer3)
c.5493_5494insTT (p.Val1832LeufsTer3)
c.5367_5368insTT (p.Val1790LeufsTer3)
c.5487_5488insTT (p.Val1830LeufsTer3)
c.5415_5416insTT (p.Val1806LeufsTer3)
c.2181_2182insTT (p.Val728LeufsTer3)
c.2043_2044insTT (p.Val682LeufsTer3)
c.4605_4606insTT (p.Val1536LeufsTer3)
c.5370_5371insTT (p.Val1791LeufsTer3)
c.5559_5560insTT (p.Val1854LeufsTer3)
c.5352_5353insTT (p.Val1785LeufsTer3)
c.2055_2056insTT (p.Val686LeufsTer3)
n.1376_1377insTT
n.857_858insTT
c.5556_5557insTT (p.Val1853LeufsTer3)
c.1880_1881insTT
c.2067_2068insTT (p.Val690LeufsTer3)
c.*5276_*5277insTT (n.*5276_*5277insTT)
c.*7_*8insTT (n.*7_*8insTT)
c.423_424insTT (p.Val142LeufsTer3)
c.966_967insTT (p.Val323LeufsTer3)
c.192_193insTT (p.Val65LeufsTer3)
n.5629_5630insTT
n.5670_5671insTT
 ClinVar dbSNP
17g.43045777_43045778delinsAGCA2260761130BRCA1c.5489_5490delinsCT (p.Pro1830=)
c.5492_5493delinsCT (p.Pro1831=)
c.5366_5367delinsCT (p.Pro1789=)
c.5486_5487delinsCT (p.Pro1829=)
c.5414_5415delinsCT (p.Pro1805=)
c.2180_2181delinsCT (p.Pro727=)
c.2042_2043delinsCT (p.Pro681=)
c.4604_4605delinsCT (p.Pro1535=)
c.5369_5370delinsCT (p.Pro1790=)
c.5558_5559delinsCT (p.Pro1853=)
c.5351_5352delinsCT (p.Pro1784=)
c.2054_2055delinsCT (p.Pro685=)
n.1375_1376delinsCT
n.856_857delinsCT
c.5555_5556delinsCT (p.Pro1852=)
c.1879_1880delinsCT
c.2066_2067delinsCT (p.Pro689=)
c.*5275_*5276delinsCT (n.*5275_*5276delinsCT)
c.*6_*7delinsCT (n.*6_*7delinsCT)
c.422_423delinsCT (p.Pro141=)
c.965_966delinsCT (p.Pro322=)
c.191_192delinsCT (p.Pro64=)
n.5628_5629delinsCT
n.5669_5670delinsCT
17g.43045778G>ACA10590320BRCA1c.5489C>T (p.Pro1830Leu)
c.5492C>T (p.Pro1831Leu)
c.5366C>T (p.Pro1789Leu)
c.5486C>T (p.Pro1829Leu)
c.5414C>T (p.Pro1805Leu)
c.2180C>T (p.Pro727Leu)
c.2042C>T (p.Pro681Leu)
c.4604C>T (p.Pro1535Leu)
c.5369C>T (p.Pro1790Leu)
c.5558C>T (p.Pro1853Leu)
c.5351C>T (p.Pro1784Leu)
c.2054C>T (p.Pro685Leu)
n.1375C>T
n.856C>T
c.5555C>T (p.Pro1852Leu)
c.1879C>T
c.2066C>T (p.Pro689Leu)
c.*5275C>T (n.*5275C>T)
c.*6C>T (n.*6C>T)
c.422C>T (p.Pro141Leu)
c.965C>T (p.Pro322Leu)
c.191C>T (p.Pro64Leu)
n.5628C>T
n.5669C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43045778G>CCA003662BRCA1c.5489C>G (p.Pro1830Arg)
c.5492C>G (p.Pro1831Arg)
c.5366C>G (p.Pro1789Arg)
c.5486C>G (p.Pro1829Arg)
c.5414C>G (p.Pro1805Arg)
c.2180C>G (p.Pro727Arg)
c.2042C>G (p.Pro681Arg)
c.4604C>G (p.Pro1535Arg)
c.5369C>G (p.Pro1790Arg)
c.5558C>G (p.Pro1853Arg)
c.5351C>G (p.Pro1784Arg)
c.2054C>G (p.Pro685Arg)
n.1375C>G
n.856C>G
c.5555C>G (p.Pro1852Arg)
c.1879C>G
c.2066C>G (p.Pro689Arg)
c.*5275C>G (n.*5275C>G)
c.*6C>G (n.*6C>G)
c.422C>G (p.Pro141Arg)
c.965C>G (p.Pro322Arg)
c.191C>G (p.Pro64Arg)
n.5628C>G
n.5669C>G
 ClinVar dbSNP gnomAD v4
17g.43045778G=CA2260761132BRCA1c.5489C= (p.Pro1830=)
c.5492C= (p.Pro1831=)
c.5366C= (p.Pro1789=)
c.5486C= (p.Pro1829=)
c.5414C= (p.Pro1805=)
c.2180C= (p.Pro727=)
c.2042C= (p.Pro681=)
c.4604C= (p.Pro1535=)
c.5369C= (p.Pro1790=)
c.5558C= (p.Pro1853=)
c.5351C= (p.Pro1784=)
c.2054C= (p.Pro685=)
n.1375C=
n.856C=
c.5555C= (p.Pro1852=)
c.1879C=
c.2066C= (p.Pro689=)
c.*5275C= (n.*5275C=)
c.*6C= (n.*6C=)
c.422C= (p.Pro141=)
c.965C= (p.Pro322=)
c.191C= (p.Pro64=)
n.5628C=
n.5669C=
17g.43045778G>TCA10590321BRCA1c.5489C>A (p.Pro1830His)
c.5492C>A (p.Pro1831His)
c.5366C>A (p.Pro1789His)
c.5486C>A (p.Pro1829His)
c.5414C>A (p.Pro1805His)
c.2180C>A (p.Pro727His)
c.2042C>A (p.Pro681His)
c.4604C>A (p.Pro1535His)
c.5369C>A (p.Pro1790His)
c.5558C>A (p.Pro1853His)
c.5351C>A (p.Pro1784His)
c.2054C>A (p.Pro685His)
n.1375C>A
n.856C>A
c.5555C>A (p.Pro1852His)
c.1879C>A
c.2066C>A (p.Pro689His)
c.*5275C>A (n.*5275C>A)
c.*6C>A (n.*6C>A)
c.422C>A (p.Pro141His)
c.965C>A (p.Pro322His)
c.191C>A (p.Pro64His)
n.5628C>A
n.5669C>A
 ClinVar dbSNP
17g.43045779delCA003663BRCA1c.5489del (p.Pro1830LeufsTer3)
c.5492del (p.Pro1831LeufsTer3)
c.5366del (p.Pro1789LeufsTer3)
c.5486del (p.Pro1829LeufsTer3)
c.5414del (p.Pro1805LeufsTer3)
c.2180del (p.Pro727LeufsTer3)
c.2042del (p.Pro681LeufsTer3)
c.4604del (p.Pro1535LeufsTer3)
c.5369del (p.Pro1790LeufsTer3)
c.5558del (p.Pro1853LeufsTer3)
c.5351del (p.Pro1784LeufsTer3)
c.2054del (p.Pro685LeufsTer3)
n.1375del
n.856del
c.5555del (p.Pro1852LeufsTer3)
c.1879del
c.2066del (p.Pro689LeufsTer3)
c.*5275del (n.*5275del)
c.*6del (n.*6del)
c.422del (p.Pro141LeufsTer3)
c.965del (p.Pro322LeufsTer3)
c.191del (p.Pro64LeufsTer3)
n.5628del
n.5669del
 ClinVar dbSNP
17g.43045779G>ACA10590322BRCA1c.5488C>T (p.Pro1830Ser)
c.5491C>T (p.Pro1831Ser)
c.5365C>T (p.Pro1789Ser)
c.5485C>T (p.Pro1829Ser)
c.5413C>T (p.Pro1805Ser)
c.2179C>T (p.Pro727Ser)
c.2041C>T (p.Pro681Ser)
c.4603C>T (p.Pro1535Ser)
c.5368C>T (p.Pro1790Ser)
c.5557C>T (p.Pro1853Ser)
c.5350C>T (p.Pro1784Ser)
c.2053C>T (p.Pro685Ser)
n.1374C>T
n.855C>T
c.5554C>T (p.Pro1852Ser)
c.1878C>T
c.2065C>T (p.Pro689Ser)
c.*5274C>T (n.*5274C>T)
c.*5C>T (n.*5C>T)
c.421C>T (p.Pro141Ser)
c.964C>T (p.Pro322Ser)
c.190C>T (p.Pro64Ser)
n.5627C>T
n.5668C>T
 ClinVar dbSNP
17g.43045779G>CCA10590323BRCA1c.5488C>G (p.Pro1830Ala)
c.5491C>G (p.Pro1831Ala)
c.5365C>G (p.Pro1789Ala)
c.5485C>G (p.Pro1829Ala)
c.5413C>G (p.Pro1805Ala)
c.2179C>G (p.Pro727Ala)
c.2041C>G (p.Pro681Ala)
c.4603C>G (p.Pro1535Ala)
c.5368C>G (p.Pro1790Ala)
c.5557C>G (p.Pro1853Ala)
c.5350C>G (p.Pro1784Ala)
c.2053C>G (p.Pro685Ala)
n.1374C>G
n.855C>G
c.5554C>G (p.Pro1852Ala)
c.1878C>G
c.2065C>G (p.Pro689Ala)
c.*5274C>G (n.*5274C>G)
c.*5C>G (n.*5C>G)
c.421C>G (p.Pro141Ala)
c.964C>G (p.Pro322Ala)
c.190C>G (p.Pro64Ala)
n.5627C>G
n.5668C>G
 ClinVar dbSNP
17g.43045779G=CA2260761133BRCA1c.5488C= (p.Pro1830=)
c.5491C= (p.Pro1831=)
c.5365C= (p.Pro1789=)
c.5485C= (p.Pro1829=)
c.5413C= (p.Pro1805=)
c.2179C= (p.Pro727=)
c.2041C= (p.Pro681=)
c.4603C= (p.Pro1535=)
c.5368C= (p.Pro1790=)
c.5557C= (p.Pro1853=)
c.5350C= (p.Pro1784=)
c.2053C= (p.Pro685=)
n.1374C=
n.855C=
c.5554C= (p.Pro1852=)
c.1878C=
c.2065C= (p.Pro689=)
c.*5274C= (n.*5274C=)
c.*5C= (n.*5C=)
c.421C= (p.Pro141=)
c.964C= (p.Pro322=)
c.190C= (p.Pro64=)
n.5627C=
n.5668C=
17g.43045779G>TCA055216BRCA1c.5488C>A (p.Pro1830Thr)
c.5491C>A (p.Pro1831Thr)
c.5365C>A (p.Pro1789Thr)
c.5485C>A (p.Pro1829Thr)
c.5413C>A (p.Pro1805Thr)
c.2179C>A (p.Pro727Thr)
c.2041C>A (p.Pro681Thr)
c.4603C>A (p.Pro1535Thr)
c.5368C>A (p.Pro1790Thr)
c.5557C>A (p.Pro1853Thr)
c.5350C>A (p.Pro1784Thr)
c.2053C>A (p.Pro685Thr)
n.1374C>A
n.855C>A
c.5554C>A (p.Pro1852Thr)
c.1878C>A
c.2065C>A (p.Pro689Thr)
c.*5274C>A (n.*5274C>A)
c.*5C>A (n.*5C>A)
c.421C>A (p.Pro141Thr)
c.964C>A (p.Pro322Thr)
c.190C>A (p.Pro64Thr)
n.5627C>A
n.5668C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045779_43045780delinsGTCA2260761134BRCA1c.5487_5488delinsAC (p.Ala1829=)
c.5490_5491delinsAC (p.Ala1830=)
c.5364_5365delinsAC (p.Ala1788=)
c.5484_5485delinsAC (p.Ala1828=)
c.5412_5413delinsAC (p.Ala1804=)
c.2178_2179delinsAC (p.Ala726=)
c.2040_2041delinsAC (p.Ala680=)
c.4602_4603delinsAC (p.Ala1534=)
c.5367_5368delinsAC (p.Ala1789=)
c.5556_5557delinsAC (p.Ala1852=)
c.5349_5350delinsAC (p.Ala1783=)
c.2052_2053delinsAC (p.Ala684=)
n.1373_1374delinsAC
n.854_855delinsAC
c.5553_5554delinsAC (p.Ala1851=)
c.1877_1878delinsAC
c.2064_2065delinsAC (p.Ala688=)
c.*5273_*5274delinsAC (n.*5273_*5274delinsAC)
c.*4_*5delinsAC (n.*4_*5delinsAC)
c.420_421delinsAC (p.Ala140=)
c.963_964delinsAC (p.Ala321=)
c.189_190delinsAC (p.Ala63=)
n.5626_5627delinsAC
n.5667_5668delinsAC
17g.43045780delCA003661BRCA1c.5487del (p.Pro1830LeufsTer3)
c.5490del (p.Pro1831LeufsTer3)
c.5364del (p.Pro1789LeufsTer3)
c.5484del (p.Pro1829LeufsTer3)
c.5412del (p.Pro1805LeufsTer3)
c.2178del (p.Pro727LeufsTer3)
c.2040del (p.Pro681LeufsTer3)
c.4602del (p.Pro1535LeufsTer3)
c.5367del (p.Pro1790LeufsTer3)
c.5556del (p.Pro1853LeufsTer3)
c.5349del (p.Pro1784LeufsTer3)
c.2052del (p.Pro685LeufsTer3)
n.1373del
n.854del
c.5553del (p.Pro1852LeufsTer3)
c.1877del
c.2064del (p.Pro689LeufsTer3)
c.*5273del (n.*5273del)
c.*4del (n.*4del)
c.420del (p.Pro141LeufsTer3)
c.963del (p.Pro322LeufsTer3)
c.189del (p.Pro64LeufsTer3)
n.5626del
n.5667del
 ClinVar dbSNP
17g.43045780T>ACA500142940BRCA1c.5487A>T (p.Ala1829=)
c.5490A>T (p.Ala1830=)
c.5364A>T (p.Ala1788=)
c.5484A>T (p.Ala1828=)
c.5412A>T (p.Ala1804=)
c.2178A>T (p.Ala726=)
c.2040A>T (p.Ala680=)
c.4602A>T (p.Ala1534=)
c.5367A>T (p.Ala1789=)
c.5556A>T (p.Ala1852=)
c.5349A>T (p.Ala1783=)
c.2052A>T (p.Ala684=)
n.1373A>T
n.854A>T
c.5553A>T (p.Ala1851=)
c.1877A>T
c.2064A>T (p.Ala688=)
c.*5273A>T (n.*5273A>T)
c.*4A>T (n.*4A>T)
c.420A>T (p.Ala140=)
c.963A>T (p.Ala321=)
c.189A>T (p.Ala63=)
n.5626A>T
n.5667A>T
 ClinVar dbSNP
17g.43045780T>CCA500142941BRCA1c.5487A>G (p.Ala1829=)
c.5490A>G (p.Ala1830=)
c.5364A>G (p.Ala1788=)
c.5484A>G (p.Ala1828=)
c.5412A>G (p.Ala1804=)
c.2178A>G (p.Ala726=)
c.2040A>G (p.Ala680=)
c.4602A>G (p.Ala1534=)
c.5367A>G (p.Ala1789=)
c.5556A>G (p.Ala1852=)
c.5349A>G (p.Ala1783=)
c.2052A>G (p.Ala684=)
n.1373A>G
n.854A>G
c.5553A>G (p.Ala1851=)
c.1877A>G
c.2064A>G (p.Ala688=)
c.*5273A>G (n.*5273A>G)
c.*4A>G (n.*4A>G)
c.420A>G (p.Ala140=)
c.963A>G (p.Ala321=)
c.189A>G (p.Ala63=)
n.5626A>G
n.5667A>G
 ClinVar dbSNP
17g.43045780T>GCA500142944BRCA1c.5487A>C (p.Ala1829=)
c.5490A>C (p.Ala1830=)
c.5364A>C (p.Ala1788=)
c.5484A>C (p.Ala1828=)
c.5412A>C (p.Ala1804=)
c.2178A>C (p.Ala726=)
c.2040A>C (p.Ala680=)
c.4602A>C (p.Ala1534=)
c.5367A>C (p.Ala1789=)
c.5556A>C (p.Ala1852=)
c.5349A>C (p.Ala1783=)
c.2052A>C (p.Ala684=)
n.1373A>C
n.854A>C
c.5553A>C (p.Ala1851=)
c.1877A>C
c.2064A>C (p.Ala688=)
c.*5273A>C (n.*5273A>C)
c.*4A>C (n.*4A>C)
c.420A>C (p.Ala140=)
c.963A>C (p.Ala321=)
c.189A>C (p.Ala63=)
n.5626A>C
n.5667A>C
 ClinVar dbSNP
17g.43045780T=CA2260761135BRCA1c.5487A= (p.Ala1829=)
c.5490A= (p.Ala1830=)
c.5364A= (p.Ala1788=)
c.5484A= (p.Ala1828=)
c.5412A= (p.Ala1804=)
c.2178A= (p.Ala726=)
c.2040A= (p.Ala680=)
c.4602A= (p.Ala1534=)
c.5367A= (p.Ala1789=)
c.5556A= (p.Ala1852=)
c.5349A= (p.Ala1783=)
c.2052A= (p.Ala684=)
n.1373A=
n.854A=
c.5553A= (p.Ala1851=)
c.1877A=
c.2064A= (p.Ala688=)
c.*5273A= (n.*5273A=)
c.*4A= (n.*4A=)
c.420A= (p.Ala140=)
c.963A= (p.Ala321=)
c.189A= (p.Ala63=)
n.5626A=
n.5667A=
17g.43045784_43045796delCA2580093923BRCA1c.5475_5487del (p.Gln1825HisfsTer4)
c.5478_5490del (p.Gln1826HisfsTer4)
c.5352_5364del (p.Gln1784HisfsTer4)
c.5472_5484del (p.Gln1824HisfsTer4)
c.5400_5412del (p.Gln1800HisfsTer4)
c.2166_2178del (p.Gln722HisfsTer4)
c.2028_2040del (p.Gln676HisfsTer4)
c.4590_4602del (p.Gln1530HisfsTer4)
c.5355_5367del (p.Gln1785HisfsTer4)
c.5544_5556del (p.Gln1848HisfsTer4)
c.5337_5349del (p.Gln1779HisfsTer4)
c.2040_2052del (p.Gln680HisfsTer4)
n.1361_1373del
n.842_854del
c.5541_5553del (p.Gln1847HisfsTer4)
c.1865_1877del
c.2052_2064del (p.Gln684HisfsTer4)
c.*5261_*5273del (n.*5261_*5273del)
c.2092_*4del (n.[c.2092_*4del;Asp698ProfsTer?])
c.408_420del (p.Gln136HisfsTer4)
c.951_963del (p.Gln317HisfsTer4)
c.177_189del (p.Gln59HisfsTer4)
n.5614_5626del
n.5655_5667del
 ClinVar
17g.43045781G>ACA10590324BRCA1c.5486C>T (p.Ala1829Val)
c.5489C>T (p.Ala1830Val)
c.5363C>T (p.Ala1788Val)
c.5483C>T (p.Ala1828Val)
c.5411C>T (p.Ala1804Val)
c.2177C>T (p.Ala726Val)
c.2039C>T (p.Ala680Val)
c.4601C>T (p.Ala1534Val)
c.5366C>T (p.Ala1789Val)
c.5555C>T (p.Ala1852Val)
c.5348C>T (p.Ala1783Val)
c.2051C>T (p.Ala684Val)
n.1372C>T
n.853C>T
c.5552C>T (p.Ala1851Val)
c.1876C>T
c.2063C>T (p.Ala688Val)
c.*5272C>T (n.*5272C>T)
c.*3C>T (n.*3C>T)
c.419C>T (p.Ala140Val)
c.962C>T (p.Ala321Val)
c.188C>T (p.Ala63Val)
n.5625C>T
n.5666C>T
 ClinVar dbSNP
17g.43045781G>CCA10590325BRCA1c.5486C>G (p.Ala1829Gly)
c.5489C>G (p.Ala1830Gly)
c.5363C>G (p.Ala1788Gly)
c.5483C>G (p.Ala1828Gly)
c.5411C>G (p.Ala1804Gly)
c.2177C>G (p.Ala726Gly)
c.2039C>G (p.Ala680Gly)
c.4601C>G (p.Ala1534Gly)
c.5366C>G (p.Ala1789Gly)
c.5555C>G (p.Ala1852Gly)
c.5348C>G (p.Ala1783Gly)
c.2051C>G (p.Ala684Gly)
n.1372C>G
n.853C>G
c.5552C>G (p.Ala1851Gly)
c.1876C>G
c.2063C>G (p.Ala688Gly)
c.*5272C>G (n.*5272C>G)
c.*3C>G (n.*3C>G)
c.419C>G (p.Ala140Gly)
c.962C>G (p.Ala321Gly)
c.188C>G (p.Ala63Gly)
n.5625C>G
n.5666C>G
 ClinVar dbSNP
17g.43045781G=CA2260761136BRCA1c.5486C= (p.Ala1829=)
c.5489C= (p.Ala1830=)
c.5363C= (p.Ala1788=)
c.5483C= (p.Ala1828=)
c.5411C= (p.Ala1804=)
c.2177C= (p.Ala726=)
c.2039C= (p.Ala680=)
c.4601C= (p.Ala1534=)
c.5366C= (p.Ala1789=)
c.5555C= (p.Ala1852=)
c.5348C= (p.Ala1783=)
c.2051C= (p.Ala684=)
n.1372C=
n.853C=
c.5552C= (p.Ala1851=)
c.1876C=
c.2063C= (p.Ala688=)
c.*5272C= (n.*5272C=)
c.*3C= (n.*3C=)
c.419C= (p.Ala140=)
c.962C= (p.Ala321=)
c.188C= (p.Ala63=)
n.5625C=
n.5666C=
17g.43045781G>TCA10590326BRCA1c.5486C>A (p.Ala1829Glu)
c.5489C>A (p.Ala1830Glu)
c.5363C>A (p.Ala1788Glu)
c.5483C>A (p.Ala1828Glu)
c.5411C>A (p.Ala1804Glu)
c.2177C>A (p.Ala726Glu)
c.2039C>A (p.Ala680Glu)
c.4601C>A (p.Ala1534Glu)
c.5366C>A (p.Ala1789Glu)
c.5555C>A (p.Ala1852Glu)
c.5348C>A (p.Ala1783Glu)
c.2051C>A (p.Ala684Glu)
n.1372C>A
n.853C>A
c.5552C>A (p.Ala1851Glu)
c.1876C>A
c.2063C>A (p.Ala688Glu)
c.*5272C>A (n.*5272C>A)
c.*3C>A (n.*3C>A)
c.419C>A (p.Ala140Glu)
c.962C>A (p.Ala321Glu)
c.188C>A (p.Ala63Glu)
n.5625C>A
n.5666C>A
 ClinVar dbSNP gnomAD v4
17g.43045781_43045782delinsCTCA1139665549BRCA1c.5485_5486delinsAG (p.Ala1829Arg)
c.5488_5489delinsAG (p.Ala1830Arg)
c.5362_5363delinsAG (p.Ala1788Arg)
c.5482_5483delinsAG (p.Ala1828Arg)
c.5410_5411delinsAG (p.Ala1804Arg)
c.2176_2177delinsAG (p.Ala726Arg)
c.2038_2039delinsAG (p.Ala680Arg)
c.4600_4601delinsAG (p.Ala1534Arg)
c.5365_5366delinsAG (p.Ala1789Arg)
c.5554_5555delinsAG (p.Ala1852Arg)
c.5347_5348delinsAG (p.Ala1783Arg)
c.2050_2051delinsAG (p.Ala684Arg)
n.1371_1372delinsAG
n.852_853delinsAG
c.5551_5552delinsAG (p.Ala1851Arg)
c.1875_1876delinsAG
c.2062_2063delinsAG (p.Ala688Arg)
c.*5271_*5272delinsAG (n.*5271_*5272delinsAG)
c.*2_*3delinsAG (n.*2_*3delinsAG)
c.418_419delinsAG (p.Ala140Arg)
c.961_962delinsAG (p.Ala321Arg)
c.187_188delinsAG (p.Ala63Arg)
n.5624_5625delinsAG
n.5665_5666delinsAG
 ClinVar dbSNP
17g.43045781_43045782delinsGCCA2260761137BRCA1c.5485_5486delinsGC (p.Ala1829=)
c.5488_5489delinsGC (p.Ala1830=)
c.5362_5363delinsGC (p.Ala1788=)
c.5482_5483delinsGC (p.Ala1828=)
c.5410_5411delinsGC (p.Ala1804=)
c.2176_2177delinsGC (p.Ala726=)
c.2038_2039delinsGC (p.Ala680=)
c.4600_4601delinsGC (p.Ala1534=)
c.5365_5366delinsGC (p.Ala1789=)
c.5554_5555delinsGC (p.Ala1852=)
c.5347_5348delinsGC (p.Ala1783=)
c.2050_2051delinsGC (p.Ala684=)
n.1371_1372delinsGC
n.852_853delinsGC
c.5551_5552delinsGC (p.Ala1851=)
c.1875_1876delinsGC
c.2062_2063delinsGC (p.Ala688=)
c.*5271_*5272delinsGC (n.*5271_*5272delinsGC)
c.*2_*3delinsGC (n.*2_*3delinsGC)
c.418_419delinsGC (p.Ala140=)
c.961_962delinsGC (p.Ala321=)
c.187_188delinsGC (p.Ala63=)
n.5624_5625delinsGC
n.5665_5666delinsGC
17g.43045782C>ACA10590327BRCA1c.5485G>T (p.Ala1829Ser)
c.5488G>T (p.Ala1830Ser)
c.5362G>T (p.Ala1788Ser)
c.5482G>T (p.Ala1828Ser)
c.5410G>T (p.Ala1804Ser)
c.2176G>T (p.Ala726Ser)
c.2038G>T (p.Ala680Ser)
c.4600G>T (p.Ala1534Ser)
c.5365G>T (p.Ala1789Ser)
c.5554G>T (p.Ala1852Ser)
c.5347G>T (p.Ala1783Ser)
c.2050G>T (p.Ala684Ser)
n.1371G>T
n.852G>T
c.5551G>T (p.Ala1851Ser)
c.1875G>T
c.2062G>T (p.Ala688Ser)
c.*5271G>T (n.*5271G>T)
c.*2G>T (n.*2G>T)
c.418G>T (p.Ala140Ser)
c.961G>T (p.Ala321Ser)
c.187G>T (p.Ala63Ser)
n.5624G>T
n.5665G>T
 ClinVar dbSNP
17g.43045782C=CA2260761138BRCA1c.5485G= (p.Ala1829=)
c.5488G= (p.Ala1830=)
c.5362G= (p.Ala1788=)
c.5482G= (p.Ala1828=)
c.5410G= (p.Ala1804=)
c.2176G= (p.Ala726=)
c.2038G= (p.Ala680=)
c.4600G= (p.Ala1534=)
c.5365G= (p.Ala1789=)
c.5554G= (p.Ala1852=)
c.5347G= (p.Ala1783=)
c.2050G= (p.Ala684=)
n.1371G=
n.852G=
c.5551G= (p.Ala1851=)
c.1875G=
c.2062G= (p.Ala688=)
c.*5271G= (n.*5271G=)
c.*2G= (n.*2G=)
c.418G= (p.Ala140=)
c.961G= (p.Ala321=)
c.187G= (p.Ala63=)
n.5624G=
n.5665G=
17g.43045782C>GCA10590328BRCA1c.5485G>C (p.Ala1829Pro)
c.5488G>C (p.Ala1830Pro)
c.5362G>C (p.Ala1788Pro)
c.5482G>C (p.Ala1828Pro)
c.5410G>C (p.Ala1804Pro)
c.2176G>C (p.Ala726Pro)
c.2038G>C (p.Ala680Pro)
c.4600G>C (p.Ala1534Pro)
c.5365G>C (p.Ala1789Pro)
c.5554G>C (p.Ala1852Pro)
c.5347G>C (p.Ala1783Pro)
c.2050G>C (p.Ala684Pro)
n.1371G>C
n.852G>C
c.5551G>C (p.Ala1851Pro)
c.1875G>C
c.2062G>C (p.Ala688Pro)
c.*5271G>C (n.*5271G>C)
c.*2G>C (n.*2G>C)
c.418G>C (p.Ala140Pro)
c.961G>C (p.Ala321Pro)
c.187G>C (p.Ala63Pro)
n.5624G>C
n.5665G>C
 ClinVar dbSNP
17g.43045782C>TCA003657BRCA1c.5485G>A (p.Ala1829Thr)
c.5488G>A (p.Ala1830Thr)
c.5362G>A (p.Ala1788Thr)
c.5482G>A (p.Ala1828Thr)
c.5410G>A (p.Ala1804Thr)
c.2176G>A (p.Ala726Thr)
c.2038G>A (p.Ala680Thr)
c.4600G>A (p.Ala1534Thr)
c.5365G>A (p.Ala1789Thr)
c.5554G>A (p.Ala1852Thr)
c.5347G>A (p.Ala1783Thr)
c.2050G>A (p.Ala684Thr)
n.1371G>A
n.852G>A
c.5551G>A (p.Ala1851Thr)
c.1875G>A
c.2062G>A (p.Ala688Thr)
c.*5271G>A (n.*5271G>A)
c.*2G>A (n.*2G>A)
c.418G>A (p.Ala140Thr)
c.961G>A (p.Ala321Thr)
c.187G>A (p.Ala63Thr)
n.5624G>A
n.5665G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045783C>ACA10590329BRCA1c.5484G>T (p.Glu1828Asp)
c.5487G>T (p.Glu1829Asp)
c.5361G>T (p.Glu1787Asp)
c.5481G>T (p.Glu1827Asp)
c.5409G>T (p.Glu1803Asp)
c.2175G>T (p.Glu725Asp)
c.2037G>T (p.Glu679Asp)
c.4599G>T (p.Glu1533Asp)
c.5364G>T (p.Glu1788Asp)
c.5553G>T (p.Glu1851Asp)
c.5346G>T (p.Glu1782Asp)
c.2049G>T (p.Glu683Asp)
n.1370G>T
n.851G>T
c.5550G>T (p.Glu1850Asp)
c.1874G>T
c.2061G>T (p.Glu687Asp)
c.*5270G>T (n.*5270G>T)
c.*1G>T (n.*1G>T)
c.417G>T (p.Glu139Asp)
c.960G>T (p.Glu320Asp)
c.186G>T (p.Glu62Asp)
n.5623G>T
n.5664G>T
 ClinVar dbSNP
17g.43045783C=CA2260761139BRCA1c.5484G= (p.Glu1828=)
c.5487G= (p.Glu1829=)
c.5361G= (p.Glu1787=)
c.5481G= (p.Glu1827=)
c.5409G= (p.Glu1803=)
c.2175G= (p.Glu725=)
c.2037G= (p.Glu679=)
c.4599G= (p.Glu1533=)
c.5364G= (p.Glu1788=)
c.5553G= (p.Glu1851=)
c.5346G= (p.Glu1782=)
c.2049G= (p.Glu683=)
n.1370G=
n.851G=
c.5550G= (p.Glu1850=)
c.1874G=
c.2061G= (p.Glu687=)
c.*5270G= (n.*5270G=)
c.*1G= (n.*1G=)
c.417G= (p.Glu139=)
c.960G= (p.Glu320=)
c.186G= (p.Glu62=)
n.5623G=
n.5664G=
17g.43045783C>GCA10590330BRCA1c.5484G>C (p.Glu1828Asp)
c.5487G>C (p.Glu1829Asp)
c.5361G>C (p.Glu1787Asp)
c.5481G>C (p.Glu1827Asp)
c.5409G>C (p.Glu1803Asp)
c.2175G>C (p.Glu725Asp)
c.2037G>C (p.Glu679Asp)
c.4599G>C (p.Glu1533Asp)
c.5364G>C (p.Glu1788Asp)
c.5553G>C (p.Glu1851Asp)
c.5346G>C (p.Glu1782Asp)
c.2049G>C (p.Glu683Asp)
n.1370G>C
n.851G>C
c.5550G>C (p.Glu1850Asp)
c.1874G>C
c.2061G>C (p.Glu687Asp)
c.*5270G>C (n.*5270G>C)
c.*1G>C (n.*1G>C)
c.417G>C (p.Glu139Asp)
c.960G>C (p.Glu320Asp)
c.186G>C (p.Glu62Asp)
n.5623G>C
n.5664G>C
 ClinVar dbSNP
17g.43045783C>TCA500142949BRCA1c.5484G>A (p.Glu1828=)
c.5487G>A (p.Glu1829=)
c.5361G>A (p.Glu1787=)
c.5481G>A (p.Glu1827=)
c.5409G>A (p.Glu1803=)
c.2175G>A (p.Glu725=)
c.2037G>A (p.Glu679=)
c.4599G>A (p.Glu1533=)
c.5364G>A (p.Glu1788=)
c.5553G>A (p.Glu1851=)
c.5346G>A (p.Glu1782=)
c.2049G>A (p.Glu683=)
n.1370G>A
n.851G>A
c.5550G>A (p.Glu1850=)
c.1874G>A
c.2061G>A (p.Glu687=)
c.*5270G>A (n.*5270G>A)
c.*1G>A (n.*1G>A)
c.417G>A (p.Glu139=)
c.960G>A (p.Glu320=)
c.186G>A (p.Glu62=)
n.5623G>A
n.5664G>A
 ClinVar dbSNP
17g.43045784T>ACA10590331BRCA1c.5483A>T (p.Glu1828Val)
c.5486A>T (p.Glu1829Val)
c.5360A>T (p.Glu1787Val)
c.5480A>T (p.Glu1827Val)
c.5408A>T (p.Glu1803Val)
c.2174A>T (p.Glu725Val)
c.2036A>T (p.Glu679Val)
c.4598A>T (p.Glu1533Val)
c.5363A>T (p.Glu1788Val)
c.5552A>T (p.Glu1851Val)
c.5345A>T (p.Glu1782Val)
c.2048A>T (p.Glu683Val)
n.1369A>T
n.850A>T
c.5549A>T (p.Glu1850Val)
c.1873A>T
c.2060A>T (p.Glu687Val)
c.*5269A>T (n.*5269A>T)
c.2100A>T (p.Ter700Cys)
c.416A>T (p.Glu139Val)
c.959A>T (p.Glu320Val)
c.185A>T (p.Glu62Val)
n.5622A>T
n.5663A>T
 ClinVar dbSNP
17g.43045784T>CCA10590333BRCA1c.5483A>G (p.Glu1828Gly)
c.5486A>G (p.Glu1829Gly)
c.5360A>G (p.Glu1787Gly)
c.5480A>G (p.Glu1827Gly)
c.5408A>G (p.Glu1803Gly)
c.2174A>G (p.Glu725Gly)
c.2036A>G (p.Glu679Gly)
c.4598A>G (p.Glu1533Gly)
c.5363A>G (p.Glu1788Gly)
c.5552A>G (p.Glu1851Gly)
c.5345A>G (p.Glu1782Gly)
c.2048A>G (p.Glu683Gly)
n.1369A>G
n.850A>G
c.5549A>G (p.Glu1850Gly)
c.1873A>G
c.2060A>G (p.Glu687Gly)
c.*5269A>G (n.*5269A>G)
c.2100A>G (p.Ter700Trp)
c.416A>G (p.Glu139Gly)
c.959A>G (p.Glu320Gly)
c.185A>G (p.Glu62Gly)
n.5622A>G
n.5663A>G
 ClinVar dbSNP
17g.43045784T>GCA10590335BRCA1c.5483A>C (p.Glu1828Ala)
c.5486A>C (p.Glu1829Ala)
c.5360A>C (p.Glu1787Ala)
c.5480A>C (p.Glu1827Ala)
c.5408A>C (p.Glu1803Ala)
c.2174A>C (p.Glu725Ala)
c.2036A>C (p.Glu679Ala)
c.4598A>C (p.Glu1533Ala)
c.5363A>C (p.Glu1788Ala)
c.5552A>C (p.Glu1851Ala)
c.5345A>C (p.Glu1782Ala)
c.2048A>C (p.Glu683Ala)
n.1369A>C
n.850A>C
c.5549A>C (p.Glu1850Ala)
c.1873A>C
c.2060A>C (p.Glu687Ala)
c.*5269A>C (n.*5269A>C)
c.2100A>C (p.Ter700Cys)
c.416A>C (p.Glu139Ala)
c.959A>C (p.Glu320Ala)
c.185A>C (p.Glu62Ala)
n.5622A>C
n.5663A>C
 ClinVar dbSNP
17g.43045784T=CA2260761140BRCA1c.5483A= (p.Glu1828=)
c.5486A= (p.Glu1829=)
c.5360A= (p.Glu1787=)
c.5480A= (p.Glu1827=)
c.5408A= (p.Glu1803=)
c.2174A= (p.Glu725=)
c.2036A= (p.Glu679=)
c.4598A= (p.Glu1533=)
c.5363A= (p.Glu1788=)
c.5552A= (p.Glu1851=)
c.5345A= (p.Glu1782=)
c.2048A= (p.Glu683=)
n.1369A=
n.850A=
c.5549A= (p.Glu1850=)
c.1873A=
c.2060A= (p.Glu687=)
c.*5269A= (n.*5269A=)
c.2100A= (p.Ter700=)
c.416A= (p.Glu139=)
c.959A= (p.Glu320=)
c.185A= (p.Glu62=)
n.5622A=
n.5663A=
17g.43045784_43045786delinsTCACA2260761141BRCA1c.5481_5483delinsTGA (p.Cys1827=)
c.5484_5486delinsTGA (p.Cys1828=)
c.5358_5360delinsTGA (p.Cys1786=)
c.5478_5480delinsTGA (p.Cys1826=)
c.5406_5408delinsTGA (p.Cys1802=)
c.2172_2174delinsTGA (p.Cys724=)
c.2034_2036delinsTGA (p.Cys678=)
c.4596_4598delinsTGA (p.Cys1532=)
c.5361_5363delinsTGA (p.Cys1787=)
c.5550_5552delinsTGA (p.Cys1850=)
c.5343_5345delinsTGA (p.Cys1781=)
c.2046_2048delinsTGA (p.Cys682=)
n.1367_1369delinsTGA
n.848_850delinsTGA
c.5547_5549delinsTGA (p.Cys1849=)
c.1871_1873delinsTGA
c.2058_2060delinsTGA (p.Cys686=)
c.*5267_*5269delinsTGA (n.*5267_*5269delinsTGA)
c.2098_2100delinsTGA (p.Ter700=)
c.414_416delinsTGA (p.Cys138=)
c.957_959delinsTGA (p.Cys319=)
c.183_185delinsTGA (p.Cys61=)
n.5620_5622delinsTGA
n.5661_5663delinsTGA
17g.43045785delCA2695226107BRCA1c.5482del (p.Glu1828ArgfsTer5)
c.5485del (p.Glu1829ArgfsTer5)
c.5359del (p.Glu1787ArgfsTer5)
c.5479del (p.Glu1827ArgfsTer5)
c.5407del (p.Glu1803ArgfsTer5)
c.2173del (p.Glu725ArgfsTer5)
c.2035del (p.Glu679ArgfsTer5)
c.4597del (p.Glu1533ArgfsTer5)
c.5362del (p.Glu1788ArgfsTer5)
c.5551del (p.Glu1851ArgfsTer5)
c.5344del (p.Glu1782ArgfsTer5)
c.2047del (p.Glu683ArgfsTer5)
n.1368del
n.849del
c.5548del (p.Glu1850ArgfsTer5)
c.1872del
c.2059del (p.Glu687ArgfsTer5)
c.*5268del (n.*5268del)
c.2099del (p.Ter700=)
c.415del (p.Glu139ArgfsTer5)
c.958del (p.Glu320ArgfsTer5)
c.184del (p.Glu62ArgfsTer5)
n.5621del
n.5662del
17g.43045785C>ACA10590337BRCA1c.5482G>T (p.Glu1828Ter)
c.5485G>T (p.Glu1829Ter)
c.5359G>T (p.Glu1787Ter)
c.5479G>T (p.Glu1827Ter)
c.5407G>T (p.Glu1803Ter)
c.2173G>T (p.Glu725Ter)
c.2035G>T (p.Glu679Ter)
c.4597G>T (p.Glu1533Ter)
c.5362G>T (p.Glu1788Ter)
c.5551G>T (p.Glu1851Ter)
c.5344G>T (p.Glu1782Ter)
c.2047G>T (p.Glu683Ter)
n.1368G>T
n.849G>T
c.5548G>T (p.Glu1850Ter)
c.1872G>T
c.2059G>T (p.Glu687Ter)
c.*5268G>T (n.*5268G>T)
c.2099G>T (p.Ter700Leu)
c.415G>T (p.Glu139Ter)
c.958G>T (p.Glu320Ter)
c.184G>T (p.Glu62Ter)
n.5621G>T
n.5662G>T
 ClinVar dbSNP
17g.43045785C=CA2260761142BRCA1c.5482G= (p.Glu1828=)
c.5485G= (p.Glu1829=)
c.5359G= (p.Glu1787=)
c.5479G= (p.Glu1827=)
c.5407G= (p.Glu1803=)
c.2173G= (p.Glu725=)
c.2035G= (p.Glu679=)
c.4597G= (p.Glu1533=)
c.5362G= (p.Glu1788=)
c.5551G= (p.Glu1851=)
c.5344G= (p.Glu1782=)
c.2047G= (p.Glu683=)
n.1368G=
n.849G=
c.5548G= (p.Glu1850=)
c.1872G=
c.2059G= (p.Glu687=)
c.*5268G= (n.*5268G=)
c.2099G= (p.Ter700=)
c.415G= (p.Glu139=)
c.958G= (p.Glu320=)
c.184G= (p.Glu62=)
n.5621G=
n.5662G=
17g.43045785C>GCA10590339BRCA1c.5482G>C (p.Glu1828Gln)
c.5485G>C (p.Glu1829Gln)
c.5359G>C (p.Glu1787Gln)
c.5479G>C (p.Glu1827Gln)
c.5407G>C (p.Glu1803Gln)
c.2173G>C (p.Glu725Gln)
c.2035G>C (p.Glu679Gln)
c.4597G>C (p.Glu1533Gln)
c.5362G>C (p.Glu1788Gln)
c.5551G>C (p.Glu1851Gln)
c.5344G>C (p.Glu1782Gln)
c.2047G>C (p.Glu683Gln)
n.1368G>C
n.849G>C
c.5548G>C (p.Glu1850Gln)
c.1872G>C
c.2059G>C (p.Glu687Gln)
c.*5268G>C (n.*5268G>C)
c.2099G>C (p.Ter700Ser)
c.415G>C (p.Glu139Gln)
c.958G>C (p.Glu320Gln)
c.184G>C (p.Glu62Gln)
n.5621G>C
n.5662G>C
 ClinVar dbSNP
17g.43045785C>TCA10576080BRCA1c.5482G>A (p.Glu1828Lys)
c.5485G>A (p.Glu1829Lys)
c.5359G>A (p.Glu1787Lys)
c.5479G>A (p.Glu1827Lys)
c.5407G>A (p.Glu1803Lys)
c.2173G>A (p.Glu725Lys)
c.2035G>A (p.Glu679Lys)
c.4597G>A (p.Glu1533Lys)
c.5362G>A (p.Glu1788Lys)
c.5551G>A (p.Glu1851Lys)
c.5344G>A (p.Glu1782Lys)
c.2047G>A (p.Glu683Lys)
n.1368G>A
n.849G>A
c.5548G>A (p.Glu1850Lys)
c.1872G>A
c.2059G>A (p.Glu687Lys)
c.*5268G>A (n.*5268G>A)
c.2099G>A (p.Ter700=)
c.415G>A (p.Glu139Lys)
c.958G>A (p.Glu320Lys)
c.184G>A (p.Glu62Lys)
n.5621G>A
n.5662G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045785dupCA8589943BRCA1c.5482dup (p.Glu1828GlyfsTer?)
c.5485dup (p.Glu1829GlyfsTer?)
c.5359dup (p.Glu1787GlyfsTer?)
c.5479dup (p.Glu1827GlyfsTer?)
c.5407dup (p.Glu1803GlyfsTer?)
c.2173dup (p.Glu725GlyfsTer?)
c.2035dup (p.Glu679GlyfsTer?)
c.4597dup (p.Glu1533GlyfsTer?)
c.5362dup (p.Glu1788GlyfsTer?)
c.5551dup (p.Glu1851GlyfsTer?)
c.5344dup (p.Glu1782GlyfsTer?)
c.2047dup (p.Glu683GlyfsTer?)
n.1368dup
n.849dup
c.5548dup (p.Glu1850GlyfsTer?)
c.1872dup
c.2059dup (p.Glu687GlyfsTer?)
c.*5268dup (n.*5268dup)
c.2099dup (p.Ter700TrpextTer6)
c.415dup (p.Glu139GlyfsTer?)
c.958dup (p.Glu320GlyfsTer?)
c.184dup (p.Glu62GlyfsTer?)
n.5621dup
n.5662dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045789_43045790delCA10586599BRCA1c.5481_5482del (p.Cys1827Ter)
c.5484_5485del (p.Cys1828Ter)
c.5358_5359del (p.Cys1786Ter)
c.5478_5479del (p.Cys1826Ter)
c.5406_5407del (p.Cys1802Ter)
c.2172_2173del (p.Cys724Ter)
c.2034_2035del (p.Cys678Ter)
c.4596_4597del (p.Cys1532Ter)
c.5361_5362del (p.Cys1787Ter)
c.5550_5551del (p.Cys1850Ter)
c.5343_5344del (p.Cys1781Ter)
c.2046_2047del (p.Cys682Ter)
n.1367_1368del
n.848_849del
c.5547_5548del (p.Cys1849Ter)
c.1871_1872del
c.2058_2059del (p.Cys686Ter)
c.*5267_*5268del (n.*5267_*5268del)
c.2098_2099del (p.Ter700ArgextTer5)
c.414_415del (p.Cys138Ter)
c.957_958del (p.Cys319Ter)
c.183_184del (p.Cys61Ter)
n.5620_5621del
n.5661_5662del
 ClinVar dbSNP
17g.43045786A=CA2260761144BRCA1c.5481T= (p.Cys1827=)
c.5484T= (p.Cys1828=)
c.5358T= (p.Cys1786=)
c.5478T= (p.Cys1826=)
c.5406T= (p.Cys1802=)
c.2172T= (p.Cys724=)
c.2034T= (p.Cys678=)
c.4596T= (p.Cys1532=)
c.5361T= (p.Cys1787=)
c.5550T= (p.Cys1850=)
c.5343T= (p.Cys1781=)
c.2046T= (p.Cys682=)
n.1367T=
n.848T=
c.5547T= (p.Cys1849=)
c.1871T=
c.2058T= (p.Cys686=)
c.*5267T= (n.*5267T=)
c.2098T= (p.Ter700=)
c.414T= (p.Cys138=)
c.957T= (p.Cys319=)
c.183T= (p.Cys61=)
n.5620T=
n.5661T=
17g.43045786A>CCA10590341BRCA1c.5481T>G (p.Cys1827Trp)
c.5484T>G (p.Cys1828Trp)
c.5358T>G (p.Cys1786Trp)
c.5478T>G (p.Cys1826Trp)
c.5406T>G (p.Cys1802Trp)
c.2172T>G (p.Cys724Trp)
c.2034T>G (p.Cys678Trp)
c.4596T>G (p.Cys1532Trp)
c.5361T>G (p.Cys1787Trp)
c.5550T>G (p.Cys1850Trp)
c.5343T>G (p.Cys1781Trp)
c.2046T>G (p.Cys682Trp)
n.1367T>G
n.848T>G
c.5547T>G (p.Cys1849Trp)
c.1871T>G
c.2058T>G (p.Cys686Trp)
c.*5267T>G (n.*5267T>G)
c.2098T>G (p.Ter700Gly)
c.414T>G (p.Cys138Trp)
c.957T>G (p.Cys319Trp)
c.183T>G (p.Cys61Trp)
n.5620T>G
n.5661T>G
 ClinVar dbSNP
17g.43045786A>GCA10590343BRCA1c.5481T>C (p.Cys1827=)
c.5484T>C (p.Cys1828=)
c.5358T>C (p.Cys1786=)
c.5478T>C (p.Cys1826=)
c.5406T>C (p.Cys1802=)
c.2172T>C (p.Cys724=)
c.2034T>C (p.Cys678=)
c.4596T>C (p.Cys1532=)
c.5361T>C (p.Cys1787=)
c.5550T>C (p.Cys1850=)
c.5343T>C (p.Cys1781=)
c.2046T>C (p.Cys682=)
n.1367T>C
n.848T>C
c.5547T>C (p.Cys1849=)
c.1871T>C
c.2058T>C (p.Cys686=)
c.*5267T>C (n.*5267T>C)
c.2098T>C (p.Ter700Arg)
c.414T>C (p.Cys138=)
c.957T>C (p.Cys319=)
c.183T>C (p.Cys61=)
n.5620T>C
n.5661T>C
 ClinVar dbSNP
17g.43045786A>TCA10590344BRCA1c.5481T>A (p.Cys1827Ter)
c.5484T>A (p.Cys1828Ter)
c.5358T>A (p.Cys1786Ter)
c.5478T>A (p.Cys1826Ter)
c.5406T>A (p.Cys1802Ter)
c.2172T>A (p.Cys724Ter)
c.2034T>A (p.Cys678Ter)
c.4596T>A (p.Cys1532Ter)
c.5361T>A (p.Cys1787Ter)
c.5550T>A (p.Cys1850Ter)
c.5343T>A (p.Cys1781Ter)
c.2046T>A (p.Cys682Ter)
n.1367T>A
n.848T>A
c.5547T>A (p.Cys1849Ter)
c.1871T>A
c.2058T>A (p.Cys686Ter)
c.*5267T>A (n.*5267T>A)
c.2098T>A (p.Ter700Arg)
c.414T>A (p.Cys138Ter)
c.957T>A (p.Cys319Ter)
c.183T>A (p.Cys61Ter)
n.5620T>A
n.5661T>A
 ClinVar dbSNP
17g.43045786dupCA2582342188BRCA1c.5481dup (p.Glu1828Ter)
c.5484dup (p.Glu1829Ter)
c.5358dup (p.Glu1787Ter)
c.5478dup (p.Glu1827Ter)
c.5406dup (p.Glu1803Ter)
c.2172dup (p.Glu725Ter)
c.2034dup (p.Glu679Ter)
c.4596dup (p.Glu1533Ter)
c.5361dup (p.Glu1788Ter)
c.5550dup (p.Glu1851Ter)
c.5343dup (p.Glu1782Ter)
c.2046dup (p.Glu683Ter)
n.1367dup
n.848dup
c.5547dup (p.Glu1850Ter)
c.1871dup
c.2058dup (p.Glu687Ter)
c.*5267dup (n.*5267dup)
c.2098dup (p.Ter700LeuextTer6)
c.414dup (p.Glu139Ter)
c.957dup (p.Glu320Ter)
c.183dup (p.Glu62Ter)
n.5620dup
n.5661dup
 ClinVar
17g.43045786_43045787delinsACCA2260761143BRCA1c.5480_5481delinsGT (p.Cys1827=)
c.5483_5484delinsGT (p.Cys1828=)
c.5357_5358delinsGT (p.Cys1786=)
c.5477_5478delinsGT (p.Cys1826=)
c.5405_5406delinsGT (p.Cys1802=)
c.2171_2172delinsGT (p.Cys724=)
c.2033_2034delinsGT (p.Cys678=)
c.4595_4596delinsGT (p.Cys1532=)
c.5360_5361delinsGT (p.Cys1787=)
c.5549_5550delinsGT (p.Cys1850=)
c.5342_5343delinsGT (p.Cys1781=)
c.2045_2046delinsGT (p.Cys682=)
n.1366_1367delinsGT
n.847_848delinsGT
c.5546_5547delinsGT (p.Cys1849=)
c.1870_1871delinsGT
c.2057_2058delinsGT (p.Cys686=)
c.*5266_*5267delinsGT (n.*5266_*5267delinsGT)
c.2097_2098delinsGT (p.Val699=)
c.413_414delinsGT (p.Cys138=)
c.956_957delinsGT (p.Cys319=)
c.182_183delinsGT (p.Cys61=)
n.5619_5620delinsGT
n.5660_5661delinsGT
17g.43045787delCA003652BRCA1c.5480del (p.Cys1827LeufsTer6)
c.5483del (p.Cys1828LeufsTer6)
c.5357del (p.Cys1786LeufsTer6)
c.5477del (p.Cys1826LeufsTer6)
c.5405del (p.Cys1802LeufsTer6)
c.2171del (p.Cys724LeufsTer6)
c.2033del (p.Cys678LeufsTer6)
c.4595del (p.Cys1532LeufsTer6)
c.5360del (p.Cys1787LeufsTer6)
c.5549del (p.Cys1850LeufsTer6)
c.5342del (p.Cys1781LeufsTer6)
c.2045del (p.Cys682LeufsTer6)
n.1366del
n.847del
c.5546del (p.Cys1849LeufsTer6)
c.1870del
c.2057del (p.Cys686LeufsTer6)
c.*5266del (n.*5266del)
c.2097del (p.Ter700GluextTer?)
c.413del (p.Cys138LeufsTer6)
c.956del (p.Cys319LeufsTer6)
c.182del (p.Cys61LeufsTer6)
n.5619del
n.5660del
 ClinVar dbSNP
17g.43045787C>ACA10590346BRCA1c.5480G>T (p.Cys1827Phe)
c.5483G>T (p.Cys1828Phe)
c.5357G>T (p.Cys1786Phe)
c.5477G>T (p.Cys1826Phe)
c.5405G>T (p.Cys1802Phe)
c.2171G>T (p.Cys724Phe)
c.2033G>T (p.Cys678Phe)
c.4595G>T (p.Cys1532Phe)
c.5360G>T (p.Cys1787Phe)
c.5549G>T (p.Cys1850Phe)
c.5342G>T (p.Cys1781Phe)
c.2045G>T (p.Cys682Phe)
n.1366G>T
n.847G>T
c.5546G>T (p.Cys1849Phe)
c.1870G>T
c.2057G>T (p.Cys686Phe)
c.*5266G>T (n.*5266G>T)
c.2097G>T (p.Val699=)
c.413G>T (p.Cys138Phe)
c.956G>T (p.Cys319Phe)
c.182G>T (p.Cys61Phe)
n.5619G>T
n.5660G>T
 ClinVar dbSNP
17g.43045787C=CA2260761145BRCA1c.5480G= (p.Cys1827=)
c.5483G= (p.Cys1828=)
c.5357G= (p.Cys1786=)
c.5477G= (p.Cys1826=)
c.5405G= (p.Cys1802=)
c.2171G= (p.Cys724=)
c.2033G= (p.Cys678=)
c.4595G= (p.Cys1532=)
c.5360G= (p.Cys1787=)
c.5549G= (p.Cys1850=)
c.5342G= (p.Cys1781=)
c.2045G= (p.Cys682=)
n.1366G=
n.847G=
c.5546G= (p.Cys1849=)
c.1870G=
c.2057G= (p.Cys686=)
c.*5266G= (n.*5266G=)
c.2097G= (p.Val699=)
c.413G= (p.Cys138=)
c.956G= (p.Cys319=)
c.182G= (p.Cys61=)
n.5619G=
n.5660G=
17g.43045787C>GCA10590347BRCA1c.5480G>C (p.Cys1827Ser)
c.5483G>C (p.Cys1828Ser)
c.5357G>C (p.Cys1786Ser)
c.5477G>C (p.Cys1826Ser)
c.5405G>C (p.Cys1802Ser)
c.2171G>C (p.Cys724Ser)
c.2033G>C (p.Cys678Ser)
c.4595G>C (p.Cys1532Ser)
c.5360G>C (p.Cys1787Ser)
c.5549G>C (p.Cys1850Ser)
c.5342G>C (p.Cys1781Ser)
c.2045G>C (p.Cys682Ser)
n.1366G>C
n.847G>C
c.5546G>C (p.Cys1849Ser)
c.1870G>C
c.2057G>C (p.Cys686Ser)
c.*5266G>C (n.*5266G>C)
c.2097G>C (p.Val699=)
c.413G>C (p.Cys138Ser)
c.956G>C (p.Cys319Ser)
c.182G>C (p.Cys61Ser)
n.5619G>C
n.5660G>C
 ClinVar dbSNP
17g.43045787C>TCA10590348BRCA1c.5480G>A (p.Cys1827Tyr)
c.5483G>A (p.Cys1828Tyr)
c.5357G>A (p.Cys1786Tyr)
c.5477G>A (p.Cys1826Tyr)
c.5405G>A (p.Cys1802Tyr)
c.2171G>A (p.Cys724Tyr)
c.2033G>A (p.Cys678Tyr)
c.4595G>A (p.Cys1532Tyr)
c.5360G>A (p.Cys1787Tyr)
c.5549G>A (p.Cys1850Tyr)
c.5342G>A (p.Cys1781Tyr)
c.2045G>A (p.Cys682Tyr)
n.1366G>A
n.847G>A
c.5546G>A (p.Cys1849Tyr)
c.1870G>A
c.2057G>A (p.Cys686Tyr)
c.*5266G>A (n.*5266G>A)
c.2097G>A (p.Val699=)
c.413G>A (p.Cys138Tyr)
c.956G>A (p.Cys319Tyr)
c.182G>A (p.Cys61Tyr)
n.5619G>A
n.5660G>A
 ClinVar dbSNP gnomAD v4
17g.43045788A=CA2260761146BRCA1c.5479T= (p.Cys1827=)
c.5482T= (p.Cys1828=)
c.5356T= (p.Cys1786=)
c.5476T= (p.Cys1826=)
c.5404T= (p.Cys1802=)
c.2170T= (p.Cys724=)
c.2032T= (p.Cys678=)
c.4594T= (p.Cys1532=)
c.5359T= (p.Cys1787=)
c.5548T= (p.Cys1850=)
c.5341T= (p.Cys1781=)
c.2044T= (p.Cys682=)
n.1365T=
n.846T=
c.5545T= (p.Cys1849=)
c.1869T=
c.2056T= (p.Cys686=)
c.*5265T= (n.*5265T=)
c.2096T= (p.Val699=)
c.412T= (p.Cys138=)
c.955T= (p.Cys319=)
c.181T= (p.Cys61=)
n.5618T=
n.5659T=
17g.43045788A>CCA10590349BRCA1c.5479T>G (p.Cys1827Gly)
c.5482T>G (p.Cys1828Gly)
c.5356T>G (p.Cys1786Gly)
c.5476T>G (p.Cys1826Gly)
c.5404T>G (p.Cys1802Gly)
c.2170T>G (p.Cys724Gly)
c.2032T>G (p.Cys678Gly)
c.4594T>G (p.Cys1532Gly)
c.5359T>G (p.Cys1787Gly)
c.5548T>G (p.Cys1850Gly)
c.5341T>G (p.Cys1781Gly)
c.2044T>G (p.Cys682Gly)
n.1365T>G
n.846T>G
c.5545T>G (p.Cys1849Gly)
c.1869T>G
c.2056T>G (p.Cys686Gly)
c.*5265T>G (n.*5265T>G)
c.2096T>G (p.Val699Gly)
c.412T>G (p.Cys138Gly)
c.955T>G (p.Cys319Gly)
c.181T>G (p.Cys61Gly)
n.5618T>G
n.5659T>G
 ClinVar dbSNP gnomAD v4
17g.43045788A>GCA10590351BRCA1c.5479T>C (p.Cys1827Arg)
c.5482T>C (p.Cys1828Arg)
c.5356T>C (p.Cys1786Arg)
c.5476T>C (p.Cys1826Arg)
c.5404T>C (p.Cys1802Arg)
c.2170T>C (p.Cys724Arg)
c.2032T>C (p.Cys678Arg)
c.4594T>C (p.Cys1532Arg)
c.5359T>C (p.Cys1787Arg)
c.5548T>C (p.Cys1850Arg)
c.5341T>C (p.Cys1781Arg)
c.2044T>C (p.Cys682Arg)
n.1365T>C
n.846T>C
c.5545T>C (p.Cys1849Arg)
c.1869T>C
c.2056T>C (p.Cys686Arg)
c.*5265T>C (n.*5265T>C)
c.2096T>C (p.Val699Ala)
c.412T>C (p.Cys138Arg)
c.955T>C (p.Cys319Arg)
c.181T>C (p.Cys61Arg)
n.5618T>C
n.5659T>C
 ClinVar dbSNP
17g.43045788A>TCA10590353BRCA1c.5479T>A (p.Cys1827Ser)
c.5482T>A (p.Cys1828Ser)
c.5356T>A (p.Cys1786Ser)
c.5476T>A (p.Cys1826Ser)
c.5404T>A (p.Cys1802Ser)
c.2170T>A (p.Cys724Ser)
c.2032T>A (p.Cys678Ser)
c.4594T>A (p.Cys1532Ser)
c.5359T>A (p.Cys1787Ser)
c.5548T>A (p.Cys1850Ser)
c.5341T>A (p.Cys1781Ser)
c.2044T>A (p.Cys682Ser)
n.1365T>A
n.846T>A
c.5545T>A (p.Cys1849Ser)
c.1869T>A
c.2056T>A (p.Cys686Ser)
c.*5265T>A (n.*5265T>A)
c.2096T>A (p.Val699Glu)
c.412T>A (p.Cys138Ser)
c.955T>A (p.Cys319Ser)
c.181T>A (p.Cys61Ser)
n.5618T>A
n.5659T>A
 ClinVar dbSNP
17g.43045788_43045796delinsACATCTGCCCA2260761147BRCA1c.5471_5479delinsGGCAGATGT (p.Gly1824=)
c.5474_5482delinsGGCAGATGT (p.Gly1825=)
c.5348_5356delinsGGCAGATGT (p.Gly1783=)
c.5468_5476delinsGGCAGATGT (p.Gly1823=)
c.5396_5404delinsGGCAGATGT (p.Gly1799=)
c.2162_2170delinsGGCAGATGT (p.Gly721=)
c.2024_2032delinsGGCAGATGT (p.Gly675=)
c.4586_4594delinsGGCAGATGT (p.Gly1529=)
c.5351_5359delinsGGCAGATGT (p.Gly1784=)
c.5540_5548delinsGGCAGATGT (p.Gly1847=)
c.5333_5341delinsGGCAGATGT (p.Gly1778=)
c.2036_2044delinsGGCAGATGT (p.Gly679=)
n.1357_1365delinsGGCAGATGT
n.838_846delinsGGCAGATGT
c.5537_5545delinsGGCAGATGT (p.Gly1846=)
c.1861_1869delinsGGCAGATGT
c.2048_2056delinsGGCAGATGT (p.Gly683=)
c.*5257_*5265delinsGGCAGATGT (n.*5257_*5265delinsGGCAGATGT)
c.2088_2096delinsGGCAGATGT (p.Trp696=)
c.404_412delinsGGCAGATGT (p.Gly135=)
c.947_955delinsGGCAGATGT (p.Gly316=)
c.173_181delinsGGCAGATGT (p.Gly58=)
n.5610_5618delinsGGCAGATGT
n.5651_5659delinsGGCAGATGT
17g.43045789C>ACA10590355BRCA1c.5478G>T (p.Met1826Ile)
c.5481G>T (p.Met1827Ile)
c.5355G>T (p.Met1785Ile)
c.5475G>T (p.Met1825Ile)
c.5403G>T (p.Met1801Ile)
c.2169G>T (p.Met723Ile)
c.2031G>T (p.Met677Ile)
c.4593G>T (p.Met1531Ile)
c.5358G>T (p.Met1786Ile)
c.5547G>T (p.Met1849Ile)
c.5340G>T (p.Met1780Ile)
c.2043G>T (p.Met681Ile)
n.1364G>T
n.845G>T
c.5544G>T (p.Met1848Ile)
c.1868G>T
c.2055G>T (p.Met685Ile)
c.*5264G>T (n.*5264G>T)
c.2095G>T (p.Val699Leu)
c.411G>T (p.Met137Ile)
c.954G>T (p.Met318Ile)
c.180G>T (p.Met60Ile)
n.5617G>T
n.5658G>T
 ClinVar dbSNP
17g.43045789C=CA2260761148BRCA1c.5478G= (p.Met1826=)
c.5481G= (p.Met1827=)
c.5355G= (p.Met1785=)
c.5475G= (p.Met1825=)
c.5403G= (p.Met1801=)
c.2169G= (p.Met723=)
c.2031G= (p.Met677=)
c.4593G= (p.Met1531=)
c.5358G= (p.Met1786=)
c.5547G= (p.Met1849=)
c.5340G= (p.Met1780=)
c.2043G= (p.Met681=)
n.1364G=
n.845G=
c.5544G= (p.Met1848=)
c.1868G=
c.2055G= (p.Met685=)
c.*5264G= (n.*5264G=)
c.2095G= (p.Val699=)
c.411G= (p.Met137=)
c.954G= (p.Met318=)
c.180G= (p.Met60=)
n.5617G=
n.5658G=
17g.43045789C>GCA10590357BRCA1c.5478G>C (p.Met1826Ile)
c.5481G>C (p.Met1827Ile)
c.5355G>C (p.Met1785Ile)
c.5475G>C (p.Met1825Ile)
c.5403G>C (p.Met1801Ile)
c.2169G>C (p.Met723Ile)
c.2031G>C (p.Met677Ile)
c.4593G>C (p.Met1531Ile)
c.5358G>C (p.Met1786Ile)
c.5547G>C (p.Met1849Ile)
c.5340G>C (p.Met1780Ile)
c.2043G>C (p.Met681Ile)
n.1364G>C
n.845G>C
c.5544G>C (p.Met1848Ile)
c.1868G>C
c.2055G>C (p.Met685Ile)
c.*5264G>C (n.*5264G>C)
c.2095G>C (p.Val699Leu)
c.411G>C (p.Met137Ile)
c.954G>C (p.Met318Ile)
c.180G>C (p.Met60Ile)
n.5617G>C
n.5658G>C
 ClinVar dbSNP
17g.43045789C>TCA003651BRCA1c.5478G>A (p.Met1826Ile)
c.5481G>A (p.Met1827Ile)
c.5355G>A (p.Met1785Ile)
c.5475G>A (p.Met1825Ile)
c.5403G>A (p.Met1801Ile)
c.2169G>A (p.Met723Ile)
c.2031G>A (p.Met677Ile)
c.4593G>A (p.Met1531Ile)
c.5358G>A (p.Met1786Ile)
c.5547G>A (p.Met1849Ile)
c.5340G>A (p.Met1780Ile)
c.2043G>A (p.Met681Ile)
n.1364G>A
n.845G>A
c.5544G>A (p.Met1848Ile)
c.1868G>A
c.2055G>A (p.Met685Ile)
c.*5264G>A (n.*5264G>A)
c.2095G>A (p.Val699Met)
c.411G>A (p.Met137Ile)
c.954G>A (p.Met318Ile)
c.180G>A (p.Met60Ile)
n.5617G>A
n.5658G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045791_43045798delCA003638BRCA1c.5471_5478del (p.Gly1824ValfsTer2)
c.5474_5481del (p.Gly1825ValfsTer2)
c.5348_5355del (p.Gly1783ValfsTer2)
c.5468_5475del (p.Gly1823ValfsTer2)
c.5396_5403del (p.Gly1799ValfsTer2)
c.2162_2169del (p.Gly721ValfsTer2)
c.2024_2031del (p.Gly675ValfsTer2)
c.4586_4593del (p.Gly1529ValfsTer2)
c.5351_5358del (p.Gly1784ValfsTer2)
c.5540_5547del (p.Gly1847ValfsTer2)
c.5333_5340del (p.Gly1778ValfsTer2)
c.2036_2043del (p.Gly679ValfsTer2)
n.1357_1364del
n.838_845del
c.5537_5544del (p.Gly1846ValfsTer2)
c.1861_1868del
c.2048_2055del (p.Gly683ValfsTer2)
c.*5257_*5264del (n.*5257_*5264del)
c.2088_2095del (p.Trp696CysfsTer7)
c.404_411del (p.Gly135ValfsTer2)
c.947_954del (p.Gly316ValfsTer2)
c.173_180del (p.Gly58ValfsTer2)
n.5610_5617del
n.5651_5658del
 ClinVar dbSNP
17g.43045790A=CA2260761149BRCA1c.5477T= (p.Met1826=)
c.5480T= (p.Met1827=)
c.5354T= (p.Met1785=)
c.5474T= (p.Met1825=)
c.5402T= (p.Met1801=)
c.2168T= (p.Met723=)
c.2030T= (p.Met677=)
c.4592T= (p.Met1531=)
c.5357T= (p.Met1786=)
c.5546T= (p.Met1849=)
c.5339T= (p.Met1780=)
c.2042T= (p.Met681=)
n.1363T=
n.844T=
c.5543T= (p.Met1848=)
c.1867T=
c.2054T= (p.Met685=)
c.*5263T= (n.*5263T=)
c.2094T= (p.Asp698=)
c.410T= (p.Met137=)
c.953T= (p.Met318=)
c.179T= (p.Met60=)
n.5616T=
n.5657T=
17g.43045790A>CCA10590359BRCA1c.5477T>G (p.Met1826Arg)
c.5480T>G (p.Met1827Arg)
c.5354T>G (p.Met1785Arg)
c.5474T>G (p.Met1825Arg)
c.5402T>G (p.Met1801Arg)
c.2168T>G (p.Met723Arg)
c.2030T>G (p.Met677Arg)
c.4592T>G (p.Met1531Arg)
c.5357T>G (p.Met1786Arg)
c.5546T>G (p.Met1849Arg)
c.5339T>G (p.Met1780Arg)
c.2042T>G (p.Met681Arg)
n.1363T>G
n.844T>G
c.5543T>G (p.Met1848Arg)
c.1867T>G
c.2054T>G (p.Met685Arg)
c.*5263T>G (n.*5263T>G)
c.2094T>G (p.Asp698Glu)
c.410T>G (p.Met137Arg)
c.953T>G (p.Met318Arg)
c.179T>G (p.Met60Arg)
n.5616T>G
n.5657T>G
 ClinVar dbSNP
17g.43045790A>GCA10590361BRCA1c.5477T>C (p.Met1826Thr)
c.5480T>C (p.Met1827Thr)
c.5354T>C (p.Met1785Thr)
c.5474T>C (p.Met1825Thr)
c.5402T>C (p.Met1801Thr)
c.2168T>C (p.Met723Thr)
c.2030T>C (p.Met677Thr)
c.4592T>C (p.Met1531Thr)
c.5357T>C (p.Met1786Thr)
c.5546T>C (p.Met1849Thr)
c.5339T>C (p.Met1780Thr)
c.2042T>C (p.Met681Thr)
n.1363T>C
n.844T>C
c.5543T>C (p.Met1848Thr)
c.1867T>C
c.2054T>C (p.Met685Thr)
c.*5263T>C (n.*5263T>C)
c.2094T>C (p.Asp698=)
c.410T>C (p.Met137Thr)
c.953T>C (p.Met318Thr)
c.179T>C (p.Met60Thr)
n.5616T>C
n.5657T>C
 ClinVar dbSNP
17g.43045790A>TCA10590362BRCA1c.5477T>A (p.Met1826Lys)
c.5480T>A (p.Met1827Lys)
c.5354T>A (p.Met1785Lys)
c.5474T>A (p.Met1825Lys)
c.5402T>A (p.Met1801Lys)
c.2168T>A (p.Met723Lys)
c.2030T>A (p.Met677Lys)
c.4592T>A (p.Met1531Lys)
c.5357T>A (p.Met1786Lys)
c.5546T>A (p.Met1849Lys)
c.5339T>A (p.Met1780Lys)
c.2042T>A (p.Met681Lys)
n.1363T>A
n.844T>A
c.5543T>A (p.Met1848Lys)
c.1867T>A
c.2054T>A (p.Met685Lys)
c.*5263T>A (n.*5263T>A)
c.2094T>A (p.Asp698Glu)
c.410T>A (p.Met137Lys)
c.953T>A (p.Met318Lys)
c.179T>A (p.Met60Lys)
n.5616T>A
n.5657T>A
 ClinVar dbSNP
17g.43045791T>ACA10590364BRCA1c.5476A>T (p.Met1826Leu)
c.5479A>T (p.Met1827Leu)
c.5353A>T (p.Met1785Leu)
c.5473A>T (p.Met1825Leu)
c.5401A>T (p.Met1801Leu)
c.2167A>T (p.Met723Leu)
c.2029A>T (p.Met677Leu)
c.4591A>T (p.Met1531Leu)
c.5356A>T (p.Met1786Leu)
c.5545A>T (p.Met1849Leu)
c.5338A>T (p.Met1780Leu)
c.2041A>T (p.Met681Leu)
n.1362A>T
n.843A>T
c.5542A>T (p.Met1848Leu)
c.1866A>T
c.2053A>T (p.Met685Leu)
c.*5262A>T (n.*5262A>T)
c.2093A>T (p.Asp698Val)
c.409A>T (p.Met137Leu)
c.952A>T (p.Met318Leu)
c.178A>T (p.Met60Leu)
n.5615A>T
n.5656A>T
 ClinVar dbSNP
17g.43045791T>CCA055189BRCA1c.5476A>G (p.Met1826Val)
c.5479A>G (p.Met1827Val)
c.5353A>G (p.Met1785Val)
c.5473A>G (p.Met1825Val)
c.5401A>G (p.Met1801Val)
c.2167A>G (p.Met723Val)
c.2029A>G (p.Met677Val)
c.4591A>G (p.Met1531Val)
c.5356A>G (p.Met1786Val)
c.5545A>G (p.Met1849Val)
c.5338A>G (p.Met1780Val)
c.2041A>G (p.Met681Val)
n.1362A>G
n.843A>G
c.5542A>G (p.Met1848Val)
c.1866A>G
c.2053A>G (p.Met685Val)
c.*5262A>G (n.*5262A>G)
c.2093A>G (p.Asp698Gly)
c.409A>G (p.Met137Val)
c.952A>G (p.Met318Val)
c.178A>G (p.Met60Val)
n.5615A>G
n.5656A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045791T>GCA10590366BRCA1c.5476A>C (p.Met1826Leu)
c.5479A>C (p.Met1827Leu)
c.5353A>C (p.Met1785Leu)
c.5473A>C (p.Met1825Leu)
c.5401A>C (p.Met1801Leu)
c.2167A>C (p.Met723Leu)
c.2029A>C (p.Met677Leu)
c.4591A>C (p.Met1531Leu)
c.5356A>C (p.Met1786Leu)
c.5545A>C (p.Met1849Leu)
c.5338A>C (p.Met1780Leu)
c.2041A>C (p.Met681Leu)
n.1362A>C
n.843A>C
c.5542A>C (p.Met1848Leu)
c.1866A>C
c.2053A>C (p.Met685Leu)
c.*5262A>C (n.*5262A>C)
c.2093A>C (p.Asp698Ala)
c.409A>C (p.Met137Leu)
c.952A>C (p.Met318Leu)
c.178A>C (p.Met60Leu)
n.5615A>C
n.5656A>C
 ClinVar dbSNP
17g.43045791T=CA2260761150BRCA1c.5476A= (p.Met1826=)
c.5479A= (p.Met1827=)
c.5353A= (p.Met1785=)
c.5473A= (p.Met1825=)
c.5401A= (p.Met1801=)
c.2167A= (p.Met723=)
c.2029A= (p.Met677=)
c.4591A= (p.Met1531=)
c.5356A= (p.Met1786=)
c.5545A= (p.Met1849=)
c.5338A= (p.Met1780=)
c.2041A= (p.Met681=)
n.1362A=
n.843A=
c.5542A= (p.Met1848=)
c.1866A=
c.2053A= (p.Met685=)
c.*5262A= (n.*5262A=)
c.2093A= (p.Asp698=)
c.409A= (p.Met137=)
c.952A= (p.Met318=)
c.178A= (p.Met60=)
n.5615A=
n.5656A=
17g.43045792_43045793dupCA003642BRCA1c.5475_5476dup (p.Met1826ArgfsTer8)
c.5478_5479dup (p.Met1827ArgfsTer8)
c.5352_5353dup (p.Met1785ArgfsTer8)
c.5472_5473dup (p.Met1825ArgfsTer8)
c.5400_5401dup (p.Met1801ArgfsTer8)
c.2166_2167dup (p.Met723ArgfsTer8)
c.2028_2029dup (p.Met677ArgfsTer8)
c.4590_4591dup (p.Met1531ArgfsTer8)
c.5355_5356dup (p.Met1786ArgfsTer8)
c.5544_5545dup (p.Met1849ArgfsTer8)
c.5337_5338dup (p.Met1780ArgfsTer8)
c.2040_2041dup (p.Met681ArgfsTer8)
n.1361_1362dup
n.842_843dup
c.5541_5542dup (p.Met1848ArgfsTer8)
c.1865_1866dup
c.2052_2053dup (p.Met685ArgfsTer8)
c.*5261_*5262dup (n.*5261_*5262dup)
c.2092_2093dup (p.Asp698GlufsTer?)
c.408_409dup (p.Met137ArgfsTer8)
c.951_952dup (p.Met318ArgfsTer8)
c.177_178dup (p.Met60ArgfsTer8)
n.5614_5615dup
n.5655_5656dup
 ClinVar dbSNP
17g.43045792C>ACA003641BRCA1c.5475G>T (p.Gln1825His)
c.5478G>T (p.Gln1826His)
c.5352G>T (p.Gln1784His)
c.5472G>T (p.Gln1824His)
c.5400G>T (p.Gln1800His)
c.2166G>T (p.Gln722His)
c.2028G>T (p.Gln676His)
c.4590G>T (p.Gln1530His)
c.5355G>T (p.Gln1785His)
c.5544G>T (p.Gln1848His)
c.5337G>T (p.Gln1779His)
c.2040G>T (p.Gln680His)
n.1361G>T
n.842G>T
c.5541G>T (p.Gln1847His)
c.1865G>T
c.2052G>T (p.Gln684His)
c.*5261G>T (n.*5261G>T)
c.2092G>T (p.Asp698Tyr)
c.408G>T (p.Gln136His)
c.951G>T (p.Gln317His)
c.177G>T (p.Gln59His)
n.5614G>T
n.5655G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045792C=CA2260761151BRCA1c.5475G= (p.Gln1825=)
c.5478G= (p.Gln1826=)
c.5352G= (p.Gln1784=)
c.5472G= (p.Gln1824=)
c.5400G= (p.Gln1800=)
c.2166G= (p.Gln722=)
c.2028G= (p.Gln676=)
c.4590G= (p.Gln1530=)
c.5355G= (p.Gln1785=)
c.5544G= (p.Gln1848=)
c.5337G= (p.Gln1779=)
c.2040G= (p.Gln680=)
n.1361G=
n.842G=
c.5541G= (p.Gln1847=)
c.1865G=
c.2052G= (p.Gln684=)
c.*5261G= (n.*5261G=)
c.2092G= (p.Asp698=)
c.408G= (p.Gln136=)
c.951G= (p.Gln317=)
c.177G= (p.Gln59=)
n.5614G=
n.5655G=
17g.43045792C>GCA10590368BRCA1c.5475G>C (p.Gln1825His)
c.5478G>C (p.Gln1826His)
c.5352G>C (p.Gln1784His)
c.5472G>C (p.Gln1824His)
c.5400G>C (p.Gln1800His)
c.2166G>C (p.Gln722His)
c.2028G>C (p.Gln676His)
c.4590G>C (p.Gln1530His)
c.5355G>C (p.Gln1785His)
c.5544G>C (p.Gln1848His)
c.5337G>C (p.Gln1779His)
c.2040G>C (p.Gln680His)
n.1361G>C
n.842G>C
c.5541G>C (p.Gln1847His)
c.1865G>C
c.2052G>C (p.Gln684His)
c.*5261G>C (n.*5261G>C)
c.2092G>C (p.Asp698His)
c.408G>C (p.Gln136His)
c.951G>C (p.Gln317His)
c.177G>C (p.Gln59His)
n.5614G>C
n.5655G>C
 ClinVar dbSNP
17g.43045792C>TCA10590370BRCA1c.5475G>A (p.Gln1825=)
c.5478G>A (p.Gln1826=)
c.5352G>A (p.Gln1784=)
c.5472G>A (p.Gln1824=)
c.5400G>A (p.Gln1800=)
c.2166G>A (p.Gln722=)
c.2028G>A (p.Gln676=)
c.4590G>A (p.Gln1530=)
c.5355G>A (p.Gln1785=)
c.5544G>A (p.Gln1848=)
c.5337G>A (p.Gln1779=)
c.2040G>A (p.Gln680=)
n.1361G>A
n.842G>A
c.5541G>A (p.Gln1847=)
c.1865G>A
c.2052G>A (p.Gln684=)
c.*5261G>A (n.*5261G>A)
c.2092G>A (p.Asp698Asn)
c.408G>A (p.Gln136=)
c.951G>A (p.Gln317=)
c.177G>A (p.Gln59=)
n.5614G>A
n.5655G>A
 ClinVar dbSNP
17g.43045792_43045799delCA2581463412BRCA1c.5468_5475del (p.Ile1823AsnfsTer3)
c.5471_5478del (p.Ile1824AsnfsTer3)
c.5345_5352del (p.Ile1782AsnfsTer3)
c.5465_5472del (p.Ile1822AsnfsTer3)
c.5393_5400del (p.Ile1798AsnfsTer3)
c.2159_2166del (p.Ile720AsnfsTer3)
c.2021_2028del (p.Ile674AsnfsTer3)
c.4583_4590del (p.Ile1528AsnfsTer3)
c.5348_5355del (p.Ile1783AsnfsTer3)
c.5537_5544del (p.Ile1846AsnfsTer3)
c.5330_5337del (p.Ile1777AsnfsTer3)
c.2033_2040del (p.Ile678AsnfsTer3)
n.1354_1361del
n.835_842del
c.5534_5541del (p.Ile1845AsnfsTer3)
c.1858_1865del
c.2045_2052del (p.Ile682AsnfsTer3)
c.*5254_*5261del (n.*5254_*5261del)
c.2085_2092del (p.Asn695LysfsTer8)
c.401_408del (p.Ile134AsnfsTer3)
c.944_951del (p.Ile315AsnfsTer3)
c.170_177del (p.Ile57AsnfsTer3)
n.5607_5614del
n.5648_5655del
17g.43045792_43045800delinsCTGCCCAATCA2260761152BRCA1c.5467_5475delinsATTGGGCAG (p.Ile1823=)
c.5470_5478delinsATTGGGCAG (p.Ile1824=)
c.5344_5352delinsATTGGGCAG (p.Ile1782=)
c.5464_5472delinsATTGGGCAG (p.Ile1822=)
c.5392_5400delinsATTGGGCAG (p.Ile1798=)
c.2158_2166delinsATTGGGCAG (p.Ile720=)
c.2020_2028delinsATTGGGCAG (p.Ile674=)
c.4582_4590delinsATTGGGCAG (p.Ile1528=)
c.5347_5355delinsATTGGGCAG (p.Ile1783=)
c.5536_5544delinsATTGGGCAG (p.Ile1846=)
c.5329_5337delinsATTGGGCAG (p.Ile1777=)
c.2032_2040delinsATTGGGCAG (p.Ile678=)
n.1353_1361delinsATTGGGCAG
n.834_842delinsATTGGGCAG
c.5533_5541delinsATTGGGCAG (p.Ile1845=)
c.1857_1865delinsATTGGGCAG
c.2044_2052delinsATTGGGCAG (p.Ile682=)
c.*5253_*5261delinsATTGGGCAG (n.*5253_*5261delinsATTGGGCAG)
c.2084_2092delinsATTGGGCAG (p.Asn695=)
c.400_408delinsATTGGGCAG (p.Ile134=)
c.943_951delinsATTGGGCAG (p.Ile315=)
c.169_177delinsATTGGGCAG (p.Ile57=)
n.5606_5614delinsATTGGGCAG
n.5647_5655delinsATTGGGCAG
17g.43045793T>ACA003640BRCA1c.5474A>T (p.Gln1825Leu)
c.5477A>T (p.Gln1826Leu)
c.5351A>T (p.Gln1784Leu)
c.5471A>T (p.Gln1824Leu)
c.5399A>T (p.Gln1800Leu)
c.2165A>T (p.Gln722Leu)
c.2027A>T (p.Gln676Leu)
c.4589A>T (p.Gln1530Leu)
c.5354A>T (p.Gln1785Leu)
c.5543A>T (p.Gln1848Leu)
c.5336A>T (p.Gln1779Leu)
c.2039A>T (p.Gln680Leu)
n.1360A>T
n.841A>T
c.5540A>T (p.Gln1847Leu)
c.1864A>T
c.2051A>T (p.Gln684Leu)
c.*5260A>T (n.*5260A>T)
c.2091A>T (p.Ala697=)
c.407A>T (p.Gln136Leu)
c.950A>T (p.Gln317Leu)
c.176A>T (p.Gln59Leu)
n.5613A>T
n.5654A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045793T>CCA10590371BRCA1c.5474A>G (p.Gln1825Arg)
c.5477A>G (p.Gln1826Arg)
c.5351A>G (p.Gln1784Arg)
c.5471A>G (p.Gln1824Arg)
c.5399A>G (p.Gln1800Arg)
c.2165A>G (p.Gln722Arg)
c.2027A>G (p.Gln676Arg)
c.4589A>G (p.Gln1530Arg)
c.5354A>G (p.Gln1785Arg)
c.5543A>G (p.Gln1848Arg)
c.5336A>G (p.Gln1779Arg)
c.2039A>G (p.Gln680Arg)
n.1360A>G
n.841A>G
c.5540A>G (p.Gln1847Arg)
c.1864A>G
c.2051A>G (p.Gln684Arg)
c.*5260A>G (n.*5260A>G)
c.2091A>G (p.Ala697=)
c.407A>G (p.Gln136Arg)
c.950A>G (p.Gln317Arg)
c.176A>G (p.Gln59Arg)
n.5613A>G
n.5654A>G
 ClinVar dbSNP
17g.43045793T>GCA10590372BRCA1c.5474A>C (p.Gln1825Pro)
c.5477A>C (p.Gln1826Pro)
c.5351A>C (p.Gln1784Pro)
c.5471A>C (p.Gln1824Pro)
c.5399A>C (p.Gln1800Pro)
c.2165A>C (p.Gln722Pro)
c.2027A>C (p.Gln676Pro)
c.4589A>C (p.Gln1530Pro)
c.5354A>C (p.Gln1785Pro)
c.5543A>C (p.Gln1848Pro)
c.5336A>C (p.Gln1779Pro)
c.2039A>C (p.Gln680Pro)
n.1360A>C
n.841A>C
c.5540A>C (p.Gln1847Pro)
c.1864A>C
c.2051A>C (p.Gln684Pro)
c.*5260A>C (n.*5260A>C)
c.2091A>C (p.Ala697=)
c.407A>C (p.Gln136Pro)
c.950A>C (p.Gln317Pro)
c.176A>C (p.Gln59Pro)
n.5613A>C
n.5654A>C
 ClinVar dbSNP
17g.43045793T=CA2260761153BRCA1c.5474A= (p.Gln1825=)
c.5477A= (p.Gln1826=)
c.5351A= (p.Gln1784=)
c.5471A= (p.Gln1824=)
c.5399A= (p.Gln1800=)
c.2165A= (p.Gln722=)
c.2027A= (p.Gln676=)
c.4589A= (p.Gln1530=)
c.5354A= (p.Gln1785=)
c.5543A= (p.Gln1848=)
c.5336A= (p.Gln1779=)
c.2039A= (p.Gln680=)
n.1360A=
n.841A=
c.5540A= (p.Gln1847=)
c.1864A=
c.2051A= (p.Gln684=)
c.*5260A= (n.*5260A=)
c.2091A= (p.Ala697=)
c.407A= (p.Gln136=)
c.950A= (p.Gln317=)
c.176A= (p.Gln59=)
n.5613A=
n.5654A=
17g.43045796_43045803dupCA919844142BRCA1c.5467_5474dup
c.5470_5477dup
c.5344_5351dup
c.5464_5471dup
c.5392_5399dup
c.2158_2165dup
c.2020_2027dup
c.4582_4589dup
c.5347_5354dup
c.5536_5543dup
c.5329_5336dup
c.2032_2039dup
n.1353_1360dup
n.834_841dup
c.5533_5540dup
c.1857_1864dup
c.2044_2051dup
c.*5253_*5260dup
c.2084_2091dup
c.400_407dup
c.943_950dup
c.169_176dup
n.5606_5613dup
n.5647_5654dup
 dbSNP
17g.43045796_43045803delCA003628BRCA1c.5467_5474del
c.5470_5477del
c.5344_5351del
c.5464_5471del
c.5392_5399del
c.2158_2165del
c.2020_2027del
c.4582_4589del
c.5347_5354del
c.5536_5543del
c.5329_5336del
c.2032_2039del
n.1353_1360del
n.834_841del
c.5533_5540del
c.1857_1864del
c.2044_2051del
c.*5253_*5260del
c.2084_2091del
c.400_407del
c.943_950del
c.169_176del
n.5606_5613del
n.5647_5654del
 ClinVar dbSNP
17g.43045794delCA2573054433BRCA1c.5473del (p.Gln1825ArgfsTer8)
c.5476del (p.Gln1826ArgfsTer8)
c.5350del (p.Gln1784ArgfsTer8)
c.5470del (p.Gln1824ArgfsTer8)
c.5398del (p.Gln1800ArgfsTer8)
c.2164del (p.Gln722ArgfsTer8)
c.2026del (p.Gln676ArgfsTer8)
c.4588del (p.Gln1530ArgfsTer8)
c.5353del (p.Gln1785ArgfsTer8)
c.5542del (p.Gln1848ArgfsTer8)
c.5335del (p.Gln1779ArgfsTer8)
c.2038del (p.Gln680ArgfsTer8)
n.1359del
n.840del
c.5539del (p.Gln1847ArgfsTer8)
c.1863del
c.2050del (p.Gln684ArgfsTer8)
c.*5259del (n.*5259del)
c.2090del (p.Ala697GlufsTer?)
c.406del (p.Gln136ArgfsTer8)
c.949del (p.Gln317ArgfsTer8)
c.175del (p.Gln59ArgfsTer8)
n.5612del
n.5653del
 ClinVar dbSNP
17g.43045794G>ACA10590373BRCA1c.5473C>T (p.Gln1825Ter)
c.5476C>T (p.Gln1826Ter)
c.5350C>T (p.Gln1784Ter)
c.5470C>T (p.Gln1824Ter)
c.5398C>T (p.Gln1800Ter)
c.2164C>T (p.Gln722Ter)
c.2026C>T (p.Gln676Ter)
c.4588C>T (p.Gln1530Ter)
c.5353C>T (p.Gln1785Ter)
c.5542C>T (p.Gln1848Ter)
c.5335C>T (p.Gln1779Ter)
c.2038C>T (p.Gln680Ter)
n.1359C>T
n.840C>T
c.5539C>T (p.Gln1847Ter)
c.1863C>T
c.2050C>T (p.Gln684Ter)
c.*5259C>T (n.*5259C>T)
c.2090C>T (p.Ala697Val)
c.406C>T (p.Gln136Ter)
c.949C>T (p.Gln317Ter)
c.175C>T (p.Gln59Ter)
n.5612C>T
n.5653C>T
 ClinVar dbSNP
17g.43045794G>CCA10590375BRCA1c.5473C>G (p.Gln1825Glu)
c.5476C>G (p.Gln1826Glu)
c.5350C>G (p.Gln1784Glu)
c.5470C>G (p.Gln1824Glu)
c.5398C>G (p.Gln1800Glu)
c.2164C>G (p.Gln722Glu)
c.2026C>G (p.Gln676Glu)
c.4588C>G (p.Gln1530Glu)
c.5353C>G (p.Gln1785Glu)
c.5542C>G (p.Gln1848Glu)
c.5335C>G (p.Gln1779Glu)
c.2038C>G (p.Gln680Glu)
n.1359C>G
n.840C>G
c.5539C>G (p.Gln1847Glu)
c.1863C>G
c.2050C>G (p.Gln684Glu)
c.*5259C>G (n.*5259C>G)
c.2090C>G (p.Ala697Gly)
c.406C>G (p.Gln136Glu)
c.949C>G (p.Gln317Glu)
c.175C>G (p.Gln59Glu)
n.5612C>G
n.5653C>G
 ClinVar dbSNP
17g.43045794G=CA2260761154BRCA1c.5473C= (p.Gln1825=)
c.5476C= (p.Gln1826=)
c.5350C= (p.Gln1784=)
c.5470C= (p.Gln1824=)
c.5398C= (p.Gln1800=)
c.2164C= (p.Gln722=)
c.2026C= (p.Gln676=)
c.4588C= (p.Gln1530=)
c.5353C= (p.Gln1785=)
c.5542C= (p.Gln1848=)
c.5335C= (p.Gln1779=)
c.2038C= (p.Gln680=)
n.1359C=
n.840C=
c.5539C= (p.Gln1847=)
c.1863C=
c.2050C= (p.Gln684=)
c.*5259C= (n.*5259C=)
c.2090C= (p.Ala697=)
c.406C= (p.Gln136=)
c.949C= (p.Gln317=)
c.175C= (p.Gln59=)
n.5612C=
n.5653C=
17g.43045794G>TCA003639BRCA1c.5473C>A (p.Gln1825Lys)
c.5476C>A (p.Gln1826Lys)
c.5350C>A (p.Gln1784Lys)
c.5470C>A (p.Gln1824Lys)
c.5398C>A (p.Gln1800Lys)
c.2164C>A (p.Gln722Lys)
c.2026C>A (p.Gln676Lys)
c.4588C>A (p.Gln1530Lys)
c.5353C>A (p.Gln1785Lys)
c.5542C>A (p.Gln1848Lys)
c.5335C>A (p.Gln1779Lys)
c.2038C>A (p.Gln680Lys)
n.1359C>A
n.840C>A
c.5539C>A (p.Gln1847Lys)
c.1863C>A
c.2050C>A (p.Gln684Lys)
c.*5259C>A (n.*5259C>A)
c.2090C>A (p.Ala697Glu)
c.406C>A (p.Gln136Lys)
c.949C>A (p.Gln317Lys)
c.175C>A (p.Gln59Lys)
n.5612C>A
n.5653C>A
 ClinVar dbSNP
17g.43045795C>ACA10590377BRCA1c.5472G>T (p.Gly1824=)
c.5475G>T (p.Gly1825=)
c.5349G>T (p.Gly1783=)
c.5469G>T (p.Gly1823=)
c.5397G>T (p.Gly1799=)
c.2163G>T (p.Gly721=)
c.2025G>T (p.Gly675=)
c.4587G>T (p.Gly1529=)
c.5352G>T (p.Gly1784=)
c.5541G>T (p.Gly1847=)
c.5334G>T (p.Gly1778=)
c.2037G>T (p.Gly679=)
n.1358G>T
n.839G>T
c.5538G>T (p.Gly1846=)
c.1862G>T
c.2049G>T (p.Gly683=)
c.*5258G>T (n.*5258G>T)
c.2089G>T (p.Ala697Ser)
c.405G>T (p.Gly135=)
c.948G>T (p.Gly316=)
c.174G>T (p.Gly58=)
n.5611G>T
n.5652G>T
 ClinVar dbSNP gnomAD v4
17g.43045795C=CA2260761155BRCA1c.5472G= (p.Gly1824=)
c.5475G= (p.Gly1825=)
c.5349G= (p.Gly1783=)
c.5469G= (p.Gly1823=)
c.5397G= (p.Gly1799=)
c.2163G= (p.Gly721=)
c.2025G= (p.Gly675=)
c.4587G= (p.Gly1529=)
c.5352G= (p.Gly1784=)
c.5541G= (p.Gly1847=)
c.5334G= (p.Gly1778=)
c.2037G= (p.Gly679=)
n.1358G=
n.839G=
c.5538G= (p.Gly1846=)
c.1862G=
c.2049G= (p.Gly683=)
c.*5258G= (n.*5258G=)
c.2089G= (p.Ala697=)
c.405G= (p.Gly135=)
c.948G= (p.Gly316=)
c.174G= (p.Gly58=)
n.5611G=
n.5652G=
17g.43045795C>GCA10590378BRCA1c.5472G>C (p.Gly1824=)
c.5475G>C (p.Gly1825=)
c.5349G>C (p.Gly1783=)
c.5469G>C (p.Gly1823=)
c.5397G>C (p.Gly1799=)
c.2163G>C (p.Gly721=)
c.2025G>C (p.Gly675=)
c.4587G>C (p.Gly1529=)
c.5352G>C (p.Gly1784=)
c.5541G>C (p.Gly1847=)
c.5334G>C (p.Gly1778=)
c.2037G>C (p.Gly679=)
n.1358G>C
n.839G>C
c.5538G>C (p.Gly1846=)
c.1862G>C
c.2049G>C (p.Gly683=)
c.*5258G>C (n.*5258G>C)
c.2089G>C (p.Ala697Pro)
c.405G>C (p.Gly135=)
c.948G>C (p.Gly316=)
c.174G>C (p.Gly58=)
n.5611G>C
n.5652G>C
 ClinVar dbSNP
17g.43045795C>TCA10590379BRCA1c.5472G>A (p.Gly1824=)
c.5475G>A (p.Gly1825=)
c.5349G>A (p.Gly1783=)
c.5469G>A (p.Gly1823=)
c.5397G>A (p.Gly1799=)
c.2163G>A (p.Gly721=)
c.2025G>A (p.Gly675=)
c.4587G>A (p.Gly1529=)
c.5352G>A (p.Gly1784=)
c.5541G>A (p.Gly1847=)
c.5334G>A (p.Gly1778=)
c.2037G>A (p.Gly679=)
n.1358G>A
n.839G>A
c.5538G>A (p.Gly1846=)
c.1862G>A
c.2049G>A (p.Gly683=)
c.*5258G>A (n.*5258G>A)
c.2089G>A (p.Ala697Thr)
c.405G>A (p.Gly135=)
c.948G>A (p.Gly316=)
c.174G>A (p.Gly58=)
n.5611G>A
n.5652G>A
 ClinVar dbSNP
17g.43045796C>ACA10590380BRCA1c.5471G>T (p.Gly1824Val)
c.5474G>T (p.Gly1825Val)
c.5348G>T (p.Gly1783Val)
c.5468G>T (p.Gly1823Val)
c.5396G>T (p.Gly1799Val)
c.2162G>T (p.Gly721Val)
c.2024G>T (p.Gly675Val)
c.4586G>T (p.Gly1529Val)
c.5351G>T (p.Gly1784Val)
c.5540G>T (p.Gly1847Val)
c.5333G>T (p.Gly1778Val)
c.2036G>T (p.Gly679Val)
n.1357G>T
n.838G>T
c.5537G>T (p.Gly1846Val)
c.1861G>T
c.2048G>T (p.Gly683Val)
c.*5257G>T (n.*5257G>T)
c.2088G>T (p.Trp696Cys)
c.404G>T (p.Gly135Val)
c.947G>T (p.Gly316Val)
c.173G>T (p.Gly58Val)
n.5610G>T
n.5651G>T
 ClinVar dbSNP
17g.43045796C=CA2260761156BRCA1c.5471G= (p.Gly1824=)
c.5474G= (p.Gly1825=)
c.5348G= (p.Gly1783=)
c.5468G= (p.Gly1823=)
c.5396G= (p.Gly1799=)
c.2162G= (p.Gly721=)
c.2024G= (p.Gly675=)
c.4586G= (p.Gly1529=)
c.5351G= (p.Gly1784=)
c.5540G= (p.Gly1847=)
c.5333G= (p.Gly1778=)
c.2036G= (p.Gly679=)
n.1357G=
n.838G=
c.5537G= (p.Gly1846=)
c.1861G=
c.2048G= (p.Gly683=)
c.*5257G= (n.*5257G=)
c.2088G= (p.Trp696=)
c.404G= (p.Gly135=)
c.947G= (p.Gly316=)
c.173G= (p.Gly58=)
n.5610G=
n.5651G=
17g.43045796C>GCA10590382BRCA1c.5471G>C (p.Gly1824Ala)
c.5474G>C (p.Gly1825Ala)
c.5348G>C (p.Gly1783Ala)
c.5468G>C (p.Gly1823Ala)
c.5396G>C (p.Gly1799Ala)
c.2162G>C (p.Gly721Ala)
c.2024G>C (p.Gly675Ala)
c.4586G>C (p.Gly1529Ala)
c.5351G>C (p.Gly1784Ala)
c.5540G>C (p.Gly1847Ala)
c.5333G>C (p.Gly1778Ala)
c.2036G>C (p.Gly679Ala)
n.1357G>C
n.838G>C
c.5537G>C (p.Gly1846Ala)
c.1861G>C
c.2048G>C (p.Gly683Ala)
c.*5257G>C (n.*5257G>C)
c.2088G>C (p.Trp696Cys)
c.404G>C (p.Gly135Ala)
c.947G>C (p.Gly316Ala)
c.173G>C (p.Gly58Ala)
n.5610G>C
n.5651G>C
 ClinVar dbSNP gnomAD v4
17g.43045796C>TCA10590384BRCA1c.5471G>A (p.Gly1824Glu)
c.5474G>A (p.Gly1825Glu)
c.5348G>A (p.Gly1783Glu)
c.5468G>A (p.Gly1823Glu)
c.5396G>A (p.Gly1799Glu)
c.2162G>A (p.Gly721Glu)
c.2024G>A (p.Gly675Glu)
c.4586G>A (p.Gly1529Glu)
c.5351G>A (p.Gly1784Glu)
c.5540G>A (p.Gly1847Glu)
c.5333G>A (p.Gly1778Glu)
c.2036G>A (p.Gly679Glu)
n.1357G>A
n.838G>A
c.5537G>A (p.Gly1846Glu)
c.1861G>A
c.2048G>A (p.Gly683Glu)
c.*5257G>A (n.*5257G>A)
c.2088G>A (p.Trp696Ter)
c.404G>A (p.Gly135Glu)
c.947G>A (p.Gly316Glu)
c.173G>A (p.Gly58Glu)
n.5610G>A
n.5651G>A
 ClinVar dbSNP
17g.43045797C>ACA10590386BRCA1c.5470G>T (p.Gly1824Trp)
c.5473G>T (p.Gly1825Trp)
c.5347G>T (p.Gly1783Trp)
c.5467G>T (p.Gly1823Trp)
c.5395G>T (p.Gly1799Trp)
c.2161G>T (p.Gly721Trp)
c.2023G>T (p.Gly675Trp)
c.4585G>T (p.Gly1529Trp)
c.5350G>T (p.Gly1784Trp)
c.5539G>T (p.Gly1847Trp)
c.5332G>T (p.Gly1778Trp)
c.2035G>T (p.Gly679Trp)
n.1356G>T
n.837G>T
c.5536G>T (p.Gly1846Trp)
c.1860G>T
c.2047G>T (p.Gly683Trp)
c.*5256G>T (n.*5256G>T)
c.2087G>T (p.Trp696Leu)
c.403G>T (p.Gly135Trp)
c.946G>T (p.Gly316Trp)
c.172G>T (p.Gly58Trp)
n.5609G>T
n.5650G>T
 ClinVar dbSNP
17g.43045797C=CA2260761157BRCA1c.5470G= (p.Gly1824=)
c.5473G= (p.Gly1825=)
c.5347G= (p.Gly1783=)
c.5467G= (p.Gly1823=)
c.5395G= (p.Gly1799=)
c.2161G= (p.Gly721=)
c.2023G= (p.Gly675=)
c.4585G= (p.Gly1529=)
c.5350G= (p.Gly1784=)
c.5539G= (p.Gly1847=)
c.5332G= (p.Gly1778=)
c.2035G= (p.Gly679=)
n.1356G=
n.837G=
c.5536G= (p.Gly1846=)
c.1860G=
c.2047G= (p.Gly683=)
c.*5256G= (n.*5256G=)
c.2087G= (p.Trp696=)
c.403G= (p.Gly135=)
c.946G= (p.Gly316=)
c.172G= (p.Gly58=)
n.5609G=
n.5650G=
17g.43045797C>GCA10590388BRCA1c.5470G>C (p.Gly1824Arg)
c.5473G>C (p.Gly1825Arg)
c.5347G>C (p.Gly1783Arg)
c.5467G>C (p.Gly1823Arg)
c.5395G>C (p.Gly1799Arg)
c.2161G>C (p.Gly721Arg)
c.2023G>C (p.Gly675Arg)
c.4585G>C (p.Gly1529Arg)
c.5350G>C (p.Gly1784Arg)
c.5539G>C (p.Gly1847Arg)
c.5332G>C (p.Gly1778Arg)
c.2035G>C (p.Gly679Arg)
n.1356G>C
n.837G>C
c.5536G>C (p.Gly1846Arg)
c.1860G>C
c.2047G>C (p.Gly683Arg)
c.*5256G>C (n.*5256G>C)
c.2087G>C (p.Trp696Ser)
c.403G>C (p.Gly135Arg)
c.946G>C (p.Gly316Arg)
c.172G>C (p.Gly58Arg)
n.5609G>C
n.5650G>C
 ClinVar dbSNP
17g.43045797C>TCA003637BRCA1c.5470G>A (p.Gly1824Arg)
c.5473G>A (p.Gly1825Arg)
c.5347G>A (p.Gly1783Arg)
c.5467G>A (p.Gly1823Arg)
c.5395G>A (p.Gly1799Arg)
c.2161G>A (p.Gly721Arg)
c.2023G>A (p.Gly675Arg)
c.4585G>A (p.Gly1529Arg)
c.5350G>A (p.Gly1784Arg)
c.5539G>A (p.Gly1847Arg)
c.5332G>A (p.Gly1778Arg)
c.2035G>A (p.Gly679Arg)
n.1356G>A
n.837G>A
c.5536G>A (p.Gly1846Arg)
c.1860G>A
c.2047G>A (p.Gly683Arg)
c.*5256G>A (n.*5256G>A)
c.2087G>A (p.Trp696Ter)
c.403G>A (p.Gly135Arg)
c.946G>A (p.Gly316Arg)
c.172G>A (p.Gly58Arg)
n.5609G>A
n.5650G>A
 ClinVar dbSNP gnomAD v4
17g.43045798A=CA2260761158BRCA1c.5469T= (p.Ile1823=)
c.5472T= (p.Ile1824=)
c.5346T= (p.Ile1782=)
c.5466T= (p.Ile1822=)
c.5394T= (p.Ile1798=)
c.2160T= (p.Ile720=)
c.2022T= (p.Ile674=)
c.4584T= (p.Ile1528=)
c.5349T= (p.Ile1783=)
c.5538T= (p.Ile1846=)
c.5331T= (p.Ile1777=)
c.2034T= (p.Ile678=)
n.1355T=
n.836T=
c.5535T= (p.Ile1845=)
c.1859T=
c.2046T= (p.Ile682=)
c.*5255T= (n.*5255T=)
c.2086T= (p.Trp696=)
c.402T= (p.Ile134=)
c.945T= (p.Ile315=)
c.171T= (p.Ile57=)
n.5608T=
n.5649T=
17g.43045798A>CCA10590390BRCA1c.5469T>G (p.Ile1823Met)
c.5472T>G (p.Ile1824Met)
c.5346T>G (p.Ile1782Met)
c.5466T>G (p.Ile1822Met)
c.5394T>G (p.Ile1798Met)
c.2160T>G (p.Ile720Met)
c.2022T>G (p.Ile674Met)
c.4584T>G (p.Ile1528Met)
c.5349T>G (p.Ile1783Met)
c.5538T>G (p.Ile1846Met)
c.5331T>G (p.Ile1777Met)
c.2034T>G (p.Ile678Met)
n.1355T>G
n.836T>G
c.5535T>G (p.Ile1845Met)
c.1859T>G
c.2046T>G (p.Ile682Met)
c.*5255T>G (n.*5255T>G)
c.2086T>G (p.Trp696Gly)
c.402T>G (p.Ile134Met)
c.945T>G (p.Ile315Met)
c.171T>G (p.Ile57Met)
n.5608T>G
n.5649T>G
 ClinVar dbSNP
17g.43045798A>GCA10590392BRCA1c.5469T>C (p.Ile1823=)
c.5472T>C (p.Ile1824=)
c.5346T>C (p.Ile1782=)
c.5466T>C (p.Ile1822=)
c.5394T>C (p.Ile1798=)
c.2160T>C (p.Ile720=)
c.2022T>C (p.Ile674=)
c.4584T>C (p.Ile1528=)
c.5349T>C (p.Ile1783=)
c.5538T>C (p.Ile1846=)
c.5331T>C (p.Ile1777=)
c.2034T>C (p.Ile678=)
n.1355T>C
n.836T>C
c.5535T>C (p.Ile1845=)
c.1859T>C
c.2046T>C (p.Ile682=)
c.*5255T>C (n.*5255T>C)
c.2086T>C (p.Trp696Arg)
c.402T>C (p.Ile134=)
c.945T>C (p.Ile315=)
c.171T>C (p.Ile57=)
n.5608T>C
n.5649T>C
 ClinVar dbSNP
17g.43045798A>TCA10590393BRCA1c.5469T>A (p.Ile1823=)
c.5472T>A (p.Ile1824=)
c.5346T>A (p.Ile1782=)
c.5466T>A (p.Ile1822=)
c.5394T>A (p.Ile1798=)
c.2160T>A (p.Ile720=)
c.2022T>A (p.Ile674=)
c.4584T>A (p.Ile1528=)
c.5349T>A (p.Ile1783=)
c.5538T>A (p.Ile1846=)
c.5331T>A (p.Ile1777=)
c.2034T>A (p.Ile678=)
n.1355T>A
n.836T>A
c.5535T>A (p.Ile1845=)
c.1859T>A
c.2046T>A (p.Ile682=)
c.*5255T>A (n.*5255T>A)
c.2086T>A (p.Trp696Arg)
c.402T>A (p.Ile134=)
c.945T>A (p.Ile315=)
c.171T>A (p.Ile57=)
n.5608T>A
n.5649T>A
 ClinVar dbSNP
17g.43045799A=CA2260761159BRCA1c.5468T= (p.Ile1823=)
c.5471T= (p.Ile1824=)
c.5345T= (p.Ile1782=)
c.5465T= (p.Ile1822=)
c.5393T= (p.Ile1798=)
c.2159T= (p.Ile720=)
c.2021T= (p.Ile674=)
c.4583T= (p.Ile1528=)
c.5348T= (p.Ile1783=)
c.5537T= (p.Ile1846=)
c.5330T= (p.Ile1777=)
c.2033T= (p.Ile678=)
n.1354T=
n.835T=
c.5534T= (p.Ile1845=)
c.1858T=
c.2045T= (p.Ile682=)
c.*5254T= (n.*5254T=)
c.2085T= (p.Asn695=)
c.401T= (p.Ile134=)
c.944T= (p.Ile315=)
c.170T= (p.Ile57=)
n.5607T=
n.5648T=
17g.43045799A>CCA10590394BRCA1c.5468T>G (p.Ile1823Ser)
c.5471T>G (p.Ile1824Ser)
c.5345T>G (p.Ile1782Ser)
c.5465T>G (p.Ile1822Ser)
c.5393T>G (p.Ile1798Ser)
c.2159T>G (p.Ile720Ser)
c.2021T>G (p.Ile674Ser)
c.4583T>G (p.Ile1528Ser)
c.5348T>G (p.Ile1783Ser)
c.5537T>G (p.Ile1846Ser)
c.5330T>G (p.Ile1777Ser)
c.2033T>G (p.Ile678Ser)
n.1354T>G
n.835T>G
c.5534T>G (p.Ile1845Ser)
c.1858T>G
c.2045T>G (p.Ile682Ser)
c.*5254T>G (n.*5254T>G)
c.2085T>G (p.Asn695Lys)
c.401T>G (p.Ile134Ser)
c.944T>G (p.Ile315Ser)
c.170T>G (p.Ile57Ser)
n.5607T>G
n.5648T>G
 ClinVar dbSNP
17g.43045799A>GCA10590396BRCA1c.5468T>C (p.Ile1823Thr)
c.5471T>C (p.Ile1824Thr)
c.5345T>C (p.Ile1782Thr)
c.5465T>C (p.Ile1822Thr)
c.5393T>C (p.Ile1798Thr)
c.2159T>C (p.Ile720Thr)
c.2021T>C (p.Ile674Thr)
c.4583T>C (p.Ile1528Thr)
c.5348T>C (p.Ile1783Thr)
c.5537T>C (p.Ile1846Thr)
c.5330T>C (p.Ile1777Thr)
c.2033T>C (p.Ile678Thr)
n.1354T>C
n.835T>C
c.5534T>C (p.Ile1845Thr)
c.1858T>C
c.2045T>C (p.Ile682Thr)
c.*5254T>C (n.*5254T>C)
c.2085T>C (p.Asn695=)
c.401T>C (p.Ile134Thr)
c.944T>C (p.Ile315Thr)
c.170T>C (p.Ile57Thr)
n.5607T>C
n.5648T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045799A>TCA10590397BRCA1c.5468T>A (p.Ile1823Asn)
c.5471T>A (p.Ile1824Asn)
c.5345T>A (p.Ile1782Asn)
c.5465T>A (p.Ile1822Asn)
c.5393T>A (p.Ile1798Asn)
c.2159T>A (p.Ile720Asn)
c.2021T>A (p.Ile674Asn)
c.4583T>A (p.Ile1528Asn)
c.5348T>A (p.Ile1783Asn)
c.5537T>A (p.Ile1846Asn)
c.5330T>A (p.Ile1777Asn)
c.2033T>A (p.Ile678Asn)
n.1354T>A
n.835T>A
c.5534T>A (p.Ile1845Asn)
c.1858T>A
c.2045T>A (p.Ile682Asn)
c.*5254T>A (n.*5254T>A)
c.2085T>A (p.Asn695Lys)
c.401T>A (p.Ile134Asn)
c.944T>A (p.Ile315Asn)
c.170T>A (p.Ile57Asn)
n.5607T>A
n.5648T>A
 ClinVar dbSNP
17g.43045800T>ACA10590399BRCA1c.5467A>T (p.Ile1823Phe)
c.5470A>T (p.Ile1824Phe)
c.5344A>T (p.Ile1782Phe)
c.5464A>T (p.Ile1822Phe)
c.5392A>T (p.Ile1798Phe)
c.2158A>T (p.Ile720Phe)
c.2020A>T (p.Ile674Phe)
c.4582A>T (p.Ile1528Phe)
c.5347A>T (p.Ile1783Phe)
c.5536A>T (p.Ile1846Phe)
c.5329A>T (p.Ile1777Phe)
c.2032A>T (p.Ile678Phe)
n.1353A>T
n.834A>T
c.5533A>T (p.Ile1845Phe)
c.1857A>T
c.2044A>T (p.Ile682Phe)
c.*5253A>T (n.*5253A>T)
c.2084A>T (p.Asn695Ile)
c.400A>T (p.Ile134Phe)
c.943A>T (p.Ile315Phe)
c.169A>T (p.Ile57Phe)
n.5606A>T
n.5647A>T
 ClinVar dbSNP
17g.43045800T>CCA003629BRCA1c.5467A>G (p.Ile1823Val)
c.5470A>G (p.Ile1824Val)
c.5344A>G (p.Ile1782Val)
c.5464A>G (p.Ile1822Val)
c.5392A>G (p.Ile1798Val)
c.2158A>G (p.Ile720Val)
c.2020A>G (p.Ile674Val)
c.4582A>G (p.Ile1528Val)
c.5347A>G (p.Ile1783Val)
c.5536A>G (p.Ile1846Val)
c.5329A>G (p.Ile1777Val)
c.2032A>G (p.Ile678Val)
n.1353A>G
n.834A>G
c.5533A>G (p.Ile1845Val)
c.1857A>G
c.2044A>G (p.Ile682Val)
c.*5253A>G (n.*5253A>G)
c.2084A>G (p.Asn695Ser)
c.400A>G (p.Ile134Val)
c.943A>G (p.Ile315Val)
c.169A>G (p.Ile57Val)
n.5606A>G
n.5647A>G
 ClinVar dbSNP gnomAD v4
17g.43045800T>GCA10590401BRCA1c.5467A>C (p.Ile1823Leu)
c.5470A>C (p.Ile1824Leu)
c.5344A>C (p.Ile1782Leu)
c.5464A>C (p.Ile1822Leu)
c.5392A>C (p.Ile1798Leu)
c.2158A>C (p.Ile720Leu)
c.2020A>C (p.Ile674Leu)
c.4582A>C (p.Ile1528Leu)
c.5347A>C (p.Ile1783Leu)
c.5536A>C (p.Ile1846Leu)
c.5329A>C (p.Ile1777Leu)
c.2032A>C (p.Ile678Leu)
n.1353A>C
n.834A>C
c.5533A>C (p.Ile1845Leu)
c.1857A>C
c.2044A>C (p.Ile682Leu)
c.*5253A>C (n.*5253A>C)
c.2084A>C (p.Asn695Thr)
c.400A>C (p.Ile134Leu)
c.943A>C (p.Ile315Leu)
c.169A>C (p.Ile57Leu)
n.5606A>C
n.5647A>C
 ClinVar dbSNP
17g.43045800T=CA2260761160BRCA1c.5467A= (p.Ile1823=)
c.5470A= (p.Ile1824=)
c.5344A= (p.Ile1782=)
c.5464A= (p.Ile1822=)
c.5392A= (p.Ile1798=)
c.2158A= (p.Ile720=)
c.2020A= (p.Ile674=)
c.4582A= (p.Ile1528=)
c.5347A= (p.Ile1783=)
c.5536A= (p.Ile1846=)
c.5329A= (p.Ile1777=)
c.2032A= (p.Ile678=)
n.1353A=
n.834A=
c.5533A= (p.Ile1845=)
c.1857A=
c.2044A= (p.Ile682=)
c.*5253A= (n.*5253A=)
c.2084A= (p.Asn695=)
c.400A= (p.Ile134=)
c.943A= (p.Ile315=)
c.169A= (p.Ile57=)
n.5606A=
n.5647A=
17g.43045801T>ACA10590403BRCA1c.5466A>T (p.Ala1822=)
c.5469A>T (p.Ala1823=)
c.5343A>T (p.Ala1781=)
c.5463A>T (p.Ala1821=)
c.5391A>T (p.Ala1797=)
c.2157A>T (p.Ala719=)
c.2019A>T (p.Ala673=)
c.4581A>T (p.Ala1527=)
c.5346A>T (p.Ala1782=)
c.5535A>T (p.Ala1845=)
c.5328A>T (p.Ala1776=)
c.2031A>T (p.Ala677=)
n.1352A>T
n.833A>T
c.5532A>T (p.Ala1844=)
c.1856A>T
c.2043A>T (p.Ala681=)
c.*5252A>T (n.*5252A>T)
c.2083A>T (p.Asn695Tyr)
c.399A>T (p.Ala133=)
c.942A>T (p.Ala314=)
c.168A>T (p.Ala56=)
n.5605A>T
n.5646A>T
 ClinVar dbSNP
17g.43045801T>CCA10590404BRCA1c.5466A>G (p.Ala1822=)
c.5469A>G (p.Ala1823=)
c.5343A>G (p.Ala1781=)
c.5463A>G (p.Ala1821=)
c.5391A>G (p.Ala1797=)
c.2157A>G (p.Ala719=)
c.2019A>G (p.Ala673=)
c.4581A>G (p.Ala1527=)
c.5346A>G (p.Ala1782=)
c.5535A>G (p.Ala1845=)
c.5328A>G (p.Ala1776=)
c.2031A>G (p.Ala677=)
n.1352A>G
n.833A>G
c.5532A>G (p.Ala1844=)
c.1856A>G
c.2043A>G (p.Ala681=)
c.*5252A>G (n.*5252A>G)
c.2083A>G (p.Asn695Asp)
c.399A>G (p.Ala133=)
c.942A>G (p.Ala314=)
c.168A>G (p.Ala56=)
n.5605A>G
n.5646A>G
 ClinVar dbSNP
17g.43045801T>GCA10590405BRCA1c.5466A>C (p.Ala1822=)
c.5469A>C (p.Ala1823=)
c.5343A>C (p.Ala1781=)
c.5463A>C (p.Ala1821=)
c.5391A>C (p.Ala1797=)
c.2157A>C (p.Ala719=)
c.2019A>C (p.Ala673=)
c.4581A>C (p.Ala1527=)
c.5346A>C (p.Ala1782=)
c.5535A>C (p.Ala1845=)
c.5328A>C (p.Ala1776=)
c.2031A>C (p.Ala677=)
n.1352A>C
n.833A>C
c.5532A>C (p.Ala1844=)
c.1856A>C
c.2043A>C (p.Ala681=)
c.*5252A>C (n.*5252A>C)
c.2083A>C (p.Asn695His)
c.399A>C (p.Ala133=)
c.942A>C (p.Ala314=)
c.168A>C (p.Ala56=)
n.5605A>C
n.5646A>C
 ClinVar dbSNP
17g.43045801T=CA2260761161BRCA1c.5466A= (p.Ala1822=)
c.5469A= (p.Ala1823=)
c.5343A= (p.Ala1781=)
c.5463A= (p.Ala1821=)
c.5391A= (p.Ala1797=)
c.2157A= (p.Ala719=)
c.2019A= (p.Ala673=)
c.4581A= (p.Ala1527=)
c.5346A= (p.Ala1782=)
c.5535A= (p.Ala1845=)
c.5328A= (p.Ala1776=)
c.2031A= (p.Ala677=)
n.1352A=
n.833A=
c.5532A= (p.Ala1844=)
c.1856A=
c.2043A= (p.Ala681=)
c.*5252A= (n.*5252A=)
c.2083A= (p.Asn695=)
c.399A= (p.Ala133=)
c.942A= (p.Ala314=)
c.168A= (p.Ala56=)
n.5605A=
n.5646A=
17g.43045803_43045805delCA2573154007BRCA1c.5465-1_5466del
c.5468-1_5469del
c.5342-1_5343del
c.5462-1_5463del
c.5390-1_5391del
c.2156-1_2157del
c.2018-1_2019del
c.4580-1_4581del
c.5345-1_5346del
c.5534-1_5535del
c.5327-1_5328del
c.2030-1_2031del
n.1351-1_1352del
n.832-1_833del
c.5531-1_5532del
c.1855-1_1856del
c.2042-1_2043del
c.*5251-1_*5252del
c.2082-1_2083del
c.398-1_399del
c.941-1_942del
c.167-1_168del
n.5604-1_5605del
n.5645-1_5646del
 ClinVar dbSNP
17g.43045802G>ACA055163BRCA1c.5465C>T (p.Ala1822Val)
c.5468C>T (p.Ala1823Val)
c.5342C>T (p.Ala1781Val)
c.5462C>T (p.Ala1821Val)
c.5390C>T (p.Ala1797Val)
c.2156C>T (p.Ala719Val)
c.2018C>T (p.Ala673Val)
c.4580C>T (p.Ala1527Val)
c.5345C>T (p.Ala1782Val)
c.5534C>T (p.Ala1845Val)
c.5327C>T (p.Ala1776Val)
c.2030C>T (p.Ala677Val)
n.1351C>T
n.832C>T
c.5531C>T (p.Ala1844Val)
c.1855C>T
c.2042C>T (p.Ala681Val)
c.*5251C>T (n.*5251C>T)
c.2082C>T (p.Cys694=)
c.398C>T (p.Ala133Val)
c.941C>T (p.Ala314Val)
c.167C>T (p.Ala56Val)
n.5604C>T
n.5645C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045802G>CCA10590406BRCA1c.5465C>G (p.Ala1822Gly)
c.5468C>G (p.Ala1823Gly)
c.5342C>G (p.Ala1781Gly)
c.5462C>G (p.Ala1821Gly)
c.5390C>G (p.Ala1797Gly)
c.2156C>G (p.Ala719Gly)
c.2018C>G (p.Ala673Gly)
c.4580C>G (p.Ala1527Gly)
c.5345C>G (p.Ala1782Gly)
c.5534C>G (p.Ala1845Gly)
c.5327C>G (p.Ala1776Gly)
c.2030C>G (p.Ala677Gly)
n.1351C>G
n.832C>G
c.5531C>G (p.Ala1844Gly)
c.1855C>G
c.2042C>G (p.Ala681Gly)
c.*5251C>G (n.*5251C>G)
c.2082C>G (p.Cys694Trp)
c.398C>G (p.Ala133Gly)
c.941C>G (p.Ala314Gly)
c.167C>G (p.Ala56Gly)
n.5604C>G
n.5645C>G
 ClinVar dbSNP
17g.43045802G=CA2260761163BRCA1c.5465C= (p.Ala1822=)
c.5468C= (p.Ala1823=)
c.5342C= (p.Ala1781=)
c.5462C= (p.Ala1821=)
c.5390C= (p.Ala1797=)
c.2156C= (p.Ala719=)
c.2018C= (p.Ala673=)
c.4580C= (p.Ala1527=)
c.5345C= (p.Ala1782=)
c.5534C= (p.Ala1845=)
c.5327C= (p.Ala1776=)
c.2030C= (p.Ala677=)
n.1351C=
n.832C=
c.5531C= (p.Ala1844=)
c.1855C=
c.2042C= (p.Ala681=)
c.*5251C= (n.*5251C=)
c.2082C= (p.Cys694=)
c.398C= (p.Ala133=)
c.941C= (p.Ala314=)
c.167C= (p.Ala56=)
n.5604C=
n.5645C=
17g.43045802G>TCA10590408BRCA1c.5465C>A (p.Ala1822Glu)
c.5468C>A (p.Ala1823Glu)
c.5342C>A (p.Ala1781Glu)
c.5462C>A (p.Ala1821Glu)
c.5390C>A (p.Ala1797Glu)
c.2156C>A (p.Ala719Glu)
c.2018C>A (p.Ala673Glu)
c.4580C>A (p.Ala1527Glu)
c.5345C>A (p.Ala1782Glu)
c.5534C>A (p.Ala1845Glu)
c.5327C>A (p.Ala1776Glu)
c.2030C>A (p.Ala677Glu)
n.1351C>A
n.832C>A
c.5531C>A (p.Ala1844Glu)
c.1855C>A
c.2042C>A (p.Ala681Glu)
c.*5251C>A (n.*5251C>A)
c.2082C>A (p.Cys694Ter)
c.398C>A (p.Ala133Glu)
c.941C>A (p.Ala314Glu)
c.167C>A (p.Ala56Glu)
n.5604C>A
n.5645C>A
 ClinVar dbSNP
17g.43045802_43045803delinsAACA915950026BRCA1c.5465-1_5465delinsTT
c.5468-1_5468delinsTT
c.5342-1_5342delinsTT
c.5462-1_5462delinsTT
c.5390-1_5390delinsTT
c.2156-1_2156delinsTT
c.2018-1_2018delinsTT
c.4580-1_4580delinsTT
c.5345-1_5345delinsTT
c.5534-1_5534delinsTT
c.5327-1_5327delinsTT
c.2030-1_2030delinsTT
n.1351-1_1351delinsTT
n.832-1_832delinsTT
c.5531-1_5531delinsTT
c.1855-1_1855delinsTT
c.2042-1_2042delinsTT
c.*5251-1_*5251delinsTT
c.2082-1_2082delinsTT
c.398-1_398delinsTT
c.941-1_941delinsTT
c.167-1_167delinsTT
n.5604-1_5604delinsTT
n.5645-1_5645delinsTT
 ClinVar dbSNP
17g.43045802_43045803delinsGCCA2260761162BRCA1c.5465-1_5465delinsGC
c.5468-1_5468delinsGC
c.5342-1_5342delinsGC
c.5462-1_5462delinsGC
c.5390-1_5390delinsGC
c.2156-1_2156delinsGC
c.2018-1_2018delinsGC
c.4580-1_4580delinsGC
c.5345-1_5345delinsGC
c.5534-1_5534delinsGC
c.5327-1_5327delinsGC
c.2030-1_2030delinsGC
n.1351-1_1351delinsGC
n.832-1_832delinsGC
c.5531-1_5531delinsGC
c.1855-1_1855delinsGC
c.2042-1_2042delinsGC
c.*5251-1_*5251delinsGC
c.2082-1_2082delinsGC
c.398-1_398delinsGC
c.941-1_941delinsGC
c.167-1_167delinsGC
n.5604-1_5604delinsGC
n.5645-1_5645delinsGC
17g.43045803C>ACA055116BRCA1c.5465-1G>T (n.5465-1G>T)
c.5468-1G>T (n.5468-1G>T)
c.5342-1G>T (n.5342-1G>T)
c.5462-1G>T (n.5462-1G>T)
c.5390-1G>T (n.5390-1G>T)
c.2156-1G>T (n.2156-1G>T)
c.2018-1G>T (n.2018-1G>T)
c.4580-1G>T (n.4580-1G>T)
c.5345-1G>T (n.5345-1G>T)
c.5534-1G>T (n.5534-1G>T)
c.5327-1G>T (n.5327-1G>T)
c.2030-1G>T (n.2030-1G>T)
n.1351-1G>T
n.832-1G>T
c.5531-1G>T (n.5531-1G>T)
c.1855-1G>T
c.2042-1G>T (n.2042-1G>T)
c.*5251-1G>T (n.*5251-1G>T)
c.2082-1G>T (n.2082-1G>T)
c.398-1G>T (n.398-1G>T)
c.941-1G>T (n.941-1G>T)
c.167-1G>T (n.167-1G>T)
n.5604-1G>T
n.5645-1G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045803C=CA2260761164BRCA1c.5465-1G= (n.5465-1G=)
c.5468-1G= (n.5468-1G=)
c.5342-1G= (n.5342-1G=)
c.5462-1G= (n.5462-1G=)
c.5390-1G= (n.5390-1G=)
c.2156-1G= (n.2156-1G=)
c.2018-1G= (n.2018-1G=)
c.4580-1G= (n.4580-1G=)
c.5345-1G= (n.5345-1G=)
c.5534-1G= (n.5534-1G=)
c.5327-1G= (n.5327-1G=)
c.2030-1G= (n.2030-1G=)
n.1351-1G=
n.832-1G=
c.5531-1G= (n.5531-1G=)
c.1855-1G=
c.2042-1G= (n.2042-1G=)
c.*5251-1G= (n.*5251-1G=)
c.2082-1G= (n.2082-1G=)
c.398-1G= (n.398-1G=)
c.941-1G= (n.941-1G=)
c.167-1G= (n.167-1G=)
n.5604-1G=
n.5645-1G=
17g.43045803C>GCA10590410BRCA1c.5465-1G>C (n.5465-1G>C)
c.5468-1G>C (n.5468-1G>C)
c.5342-1G>C (n.5342-1G>C)
c.5462-1G>C (n.5462-1G>C)
c.5390-1G>C (n.5390-1G>C)
c.2156-1G>C (n.2156-1G>C)
c.2018-1G>C (n.2018-1G>C)
c.4580-1G>C (n.4580-1G>C)
c.5345-1G>C (n.5345-1G>C)
c.5534-1G>C (n.5534-1G>C)
c.5327-1G>C (n.5327-1G>C)
c.2030-1G>C (n.2030-1G>C)
n.1351-1G>C
n.832-1G>C
c.5531-1G>C (n.5531-1G>C)
c.1855-1G>C
c.2042-1G>C (n.2042-1G>C)
c.*5251-1G>C (n.*5251-1G>C)
c.2082-1G>C (n.2082-1G>C)
c.398-1G>C (n.398-1G>C)
c.941-1G>C (n.941-1G>C)
c.167-1G>C (n.167-1G>C)
n.5604-1G>C
n.5645-1G>C
 ClinVar dbSNP
17g.43045803C>TCA003623BRCA1c.5465-1G>A (n.5465-1G>A)
c.5468-1G>A (n.5468-1G>A)
c.5342-1G>A (n.5342-1G>A)
c.5462-1G>A (n.5462-1G>A)
c.5390-1G>A (n.5390-1G>A)
c.2156-1G>A (n.2156-1G>A)
c.2018-1G>A (n.2018-1G>A)
c.4580-1G>A (n.4580-1G>A)
c.5345-1G>A (n.5345-1G>A)
c.5534-1G>A (n.5534-1G>A)
c.5327-1G>A (n.5327-1G>A)
c.2030-1G>A (n.2030-1G>A)
n.1351-1G>A
n.832-1G>A
c.5531-1G>A (n.5531-1G>A)
c.1855-1G>A
c.2042-1G>A (n.2042-1G>A)
c.*5251-1G>A (n.*5251-1G>A)
c.2082-1G>A (n.2082-1G>A)
c.398-1G>A (n.398-1G>A)
c.941-1G>A (n.941-1G>A)
c.167-1G>A (n.167-1G>A)
n.5604-1G>A
n.5645-1G>A
 ClinVar dbSNP
17g.43045804T>ACA10590411BRCA1c.5465-2A>T (n.5465-2A>T)
c.5468-2A>T (n.5468-2A>T)
c.5342-2A>T (n.5342-2A>T)
c.5462-2A>T (n.5462-2A>T)
c.5390-2A>T (n.5390-2A>T)
c.2156-2A>T (n.2156-2A>T)
c.2018-2A>T (n.2018-2A>T)
c.4580-2A>T (n.4580-2A>T)
c.5345-2A>T (n.5345-2A>T)
c.5534-2A>T (n.5534-2A>T)
c.5327-2A>T (n.5327-2A>T)
c.2030-2A>T (n.2030-2A>T)
n.1351-2A>T
n.832-2A>T
c.5531-2A>T (n.5531-2A>T)
c.1855-2A>T
c.2042-2A>T (n.2042-2A>T)
c.*5251-2A>T (n.*5251-2A>T)
c.2082-2A>T (n.2082-2A>T)
c.398-2A>T (n.398-2A>T)
c.941-2A>T (n.941-2A>T)
c.167-2A>T (n.167-2A>T)
n.5604-2A>T
n.5645-2A>T
 ClinVar dbSNP
17g.43045804T>CCA003625BRCA1c.5465-2A>G (n.5465-2A>G)
c.5468-2A>G (n.5468-2A>G)
c.5342-2A>G (n.5342-2A>G)
c.5462-2A>G (n.5462-2A>G)
c.5390-2A>G (n.5390-2A>G)
c.2156-2A>G (n.2156-2A>G)
c.2018-2A>G (n.2018-2A>G)
c.4580-2A>G (n.4580-2A>G)
c.5345-2A>G (n.5345-2A>G)
c.5534-2A>G (n.5534-2A>G)
c.5327-2A>G (n.5327-2A>G)
c.2030-2A>G (n.2030-2A>G)
n.1351-2A>G
n.832-2A>G
c.5531-2A>G (n.5531-2A>G)
c.1855-2A>G
c.2042-2A>G (n.2042-2A>G)
c.*5251-2A>G (n.*5251-2A>G)
c.2082-2A>G (n.2082-2A>G)
c.398-2A>G (n.398-2A>G)
c.941-2A>G (n.941-2A>G)
c.167-2A>G (n.167-2A>G)
n.5604-2A>G
n.5645-2A>G
 ClinVar dbSNP
17g.43045804T>GCA10590412BRCA1c.5465-2A>C (n.5465-2A>C)
c.5468-2A>C (n.5468-2A>C)
c.5342-2A>C (n.5342-2A>C)
c.5462-2A>C (n.5462-2A>C)
c.5390-2A>C (n.5390-2A>C)
c.2156-2A>C (n.2156-2A>C)
c.2018-2A>C (n.2018-2A>C)
c.4580-2A>C (n.4580-2A>C)
c.5345-2A>C (n.5345-2A>C)
c.5534-2A>C (n.5534-2A>C)
c.5327-2A>C (n.5327-2A>C)
c.2030-2A>C (n.2030-2A>C)
n.1351-2A>C
n.832-2A>C
c.5531-2A>C (n.5531-2A>C)
c.1855-2A>C
c.2042-2A>C (n.2042-2A>C)
c.*5251-2A>C (n.*5251-2A>C)
c.2082-2A>C (n.2082-2A>C)
c.398-2A>C (n.398-2A>C)
c.941-2A>C (n.941-2A>C)
c.167-2A>C (n.167-2A>C)
n.5604-2A>C
n.5645-2A>C
 ClinVar dbSNP
17g.43045804T=CA2260761165BRCA1c.5465-2A= (n.5465-2A=)
c.5468-2A= (n.5468-2A=)
c.5342-2A= (n.5342-2A=)
c.5462-2A= (n.5462-2A=)
c.5390-2A= (n.5390-2A=)
c.2156-2A= (n.2156-2A=)
c.2018-2A= (n.2018-2A=)
c.4580-2A= (n.4580-2A=)
c.5345-2A= (n.5345-2A=)
c.5534-2A= (n.5534-2A=)
c.5327-2A= (n.5327-2A=)
c.2030-2A= (n.2030-2A=)
n.1351-2A=
n.832-2A=
c.5531-2A= (n.5531-2A=)
c.1855-2A=
c.2042-2A= (n.2042-2A=)
c.*5251-2A= (n.*5251-2A=)
c.2082-2A= (n.2082-2A=)
c.398-2A= (n.398-2A=)
c.941-2A= (n.941-2A=)
c.167-2A= (n.167-2A=)
n.5604-2A=
n.5645-2A=
17g.43045805G>ACA916080703BRCA1c.5465-3C>T (n.5465-3C>T)
c.5468-3C>T (n.5468-3C>T)
c.5342-3C>T (n.5342-3C>T)
c.5462-3C>T (n.5462-3C>T)
c.5390-3C>T (n.5390-3C>T)
c.2156-3C>T (n.2156-3C>T)
c.2018-3C>T (n.2018-3C>T)
c.4580-3C>T (n.4580-3C>T)
c.5345-3C>T (n.5345-3C>T)
c.5534-3C>T (n.5534-3C>T)
c.5327-3C>T (n.5327-3C>T)
c.2030-3C>T (n.2030-3C>T)
n.1351-3C>T
n.832-3C>T
c.5531-3C>T (n.5531-3C>T)
c.1855-3C>T
c.2042-3C>T (n.2042-3C>T)
c.*5251-3C>T (n.*5251-3C>T)
c.2082-3C>T (n.2082-3C>T)
c.398-3C>T (n.398-3C>T)
c.941-3C>T (n.941-3C>T)
c.167-3C>T (n.167-3C>T)
n.5604-3C>T
n.5645-3C>T
 ClinVar dbSNP
17g.43045805G>CCA916080704BRCA1c.5465-3C>G (n.5465-3C>G)
c.5468-3C>G (n.5468-3C>G)
c.5342-3C>G (n.5342-3C>G)
c.5462-3C>G (n.5462-3C>G)
c.5390-3C>G (n.5390-3C>G)
c.2156-3C>G (n.2156-3C>G)
c.2018-3C>G (n.2018-3C>G)
c.4580-3C>G (n.4580-3C>G)
c.5345-3C>G (n.5345-3C>G)
c.5534-3C>G (n.5534-3C>G)
c.5327-3C>G (n.5327-3C>G)
c.2030-3C>G (n.2030-3C>G)
n.1351-3C>G
n.832-3C>G
c.5531-3C>G (n.5531-3C>G)
c.1855-3C>G
c.2042-3C>G (n.2042-3C>G)
c.*5251-3C>G (n.*5251-3C>G)
c.2082-3C>G (n.2082-3C>G)
c.398-3C>G (n.398-3C>G)
c.941-3C>G (n.941-3C>G)
c.167-3C>G (n.167-3C>G)
n.5604-3C>G
n.5645-3C>G
 ClinVar dbSNP
17g.43045805G=CA2260761166BRCA1c.5465-3C= (n.5465-3C=)
c.5468-3C= (n.5468-3C=)
c.5342-3C= (n.5342-3C=)
c.5462-3C= (n.5462-3C=)
c.5390-3C= (n.5390-3C=)
c.2156-3C= (n.2156-3C=)
c.2018-3C= (n.2018-3C=)
c.4580-3C= (n.4580-3C=)
c.5345-3C= (n.5345-3C=)
c.5534-3C= (n.5534-3C=)
c.5327-3C= (n.5327-3C=)
c.2030-3C= (n.2030-3C=)
n.1351-3C=
n.832-3C=
c.5531-3C= (n.5531-3C=)
c.1855-3C=
c.2042-3C= (n.2042-3C=)
c.*5251-3C= (n.*5251-3C=)
c.2082-3C= (n.2082-3C=)
c.398-3C= (n.398-3C=)
c.941-3C= (n.941-3C=)
c.167-3C= (n.167-3C=)
n.5604-3C=
n.5645-3C=
17g.43045805G>TCA916080702BRCA1c.5465-3C>A (n.5465-3C>A)
c.5468-3C>A (n.5468-3C>A)
c.5342-3C>A (n.5342-3C>A)
c.5462-3C>A (n.5462-3C>A)
c.5390-3C>A (n.5390-3C>A)
c.2156-3C>A (n.2156-3C>A)
c.2018-3C>A (n.2018-3C>A)
c.4580-3C>A (n.4580-3C>A)
c.5345-3C>A (n.5345-3C>A)
c.5534-3C>A (n.5534-3C>A)
c.5327-3C>A (n.5327-3C>A)
c.2030-3C>A (n.2030-3C>A)
n.1351-3C>A
n.832-3C>A
c.5531-3C>A (n.5531-3C>A)
c.1855-3C>A
c.2042-3C>A (n.2042-3C>A)
c.*5251-3C>A (n.*5251-3C>A)
c.2082-3C>A (n.2082-3C>A)
c.398-3C>A (n.398-3C>A)
c.941-3C>A (n.941-3C>A)
c.167-3C>A (n.167-3C>A)
n.5604-3C>A
n.5645-3C>A
 ClinVar dbSNP
17g.43045806G>ACA055141BRCA1c.5465-4C>T (n.5465-4C>T)
c.5468-4C>T (n.5468-4C>T)
c.5342-4C>T (n.5342-4C>T)
c.5462-4C>T (n.5462-4C>T)
c.5390-4C>T (n.5390-4C>T)
c.2156-4C>T (n.2156-4C>T)
c.2018-4C>T (n.2018-4C>T)
c.4580-4C>T (n.4580-4C>T)
c.5345-4C>T (n.5345-4C>T)
c.5534-4C>T (n.5534-4C>T)
c.5327-4C>T (n.5327-4C>T)
c.2030-4C>T (n.2030-4C>T)
n.1351-4C>T
n.832-4C>T
c.5531-4C>T (n.5531-4C>T)
c.1855-4C>T
c.2042-4C>T (n.2042-4C>T)
c.*5251-4C>T (n.*5251-4C>T)
c.2082-4C>T (n.2082-4C>T)
c.398-4C>T (n.398-4C>T)
c.941-4C>T (n.941-4C>T)
c.167-4C>T (n.167-4C>T)
n.5604-4C>T
n.5645-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045806G>CCA916080705BRCA1c.5465-4C>G (n.5465-4C>G)
c.5468-4C>G (n.5468-4C>G)
c.5342-4C>G (n.5342-4C>G)
c.5462-4C>G (n.5462-4C>G)
c.5390-4C>G (n.5390-4C>G)
c.2156-4C>G (n.2156-4C>G)
c.2018-4C>G (n.2018-4C>G)
c.4580-4C>G (n.4580-4C>G)
c.5345-4C>G (n.5345-4C>G)
c.5534-4C>G (n.5534-4C>G)
c.5327-4C>G (n.5327-4C>G)
c.2030-4C>G (n.2030-4C>G)
n.1351-4C>G
n.832-4C>G
c.5531-4C>G (n.5531-4C>G)
c.1855-4C>G
c.2042-4C>G (n.2042-4C>G)
c.*5251-4C>G (n.*5251-4C>G)
c.2082-4C>G (n.2082-4C>G)
c.398-4C>G (n.398-4C>G)
c.941-4C>G (n.941-4C>G)
c.167-4C>G (n.167-4C>G)
n.5604-4C>G
n.5645-4C>G
 ClinVar dbSNP
17g.43045806G=CA2260761167BRCA1c.5465-4C= (n.5465-4C=)
c.5468-4C= (n.5468-4C=)
c.5342-4C= (n.5342-4C=)
c.5462-4C= (n.5462-4C=)
c.5390-4C= (n.5390-4C=)
c.2156-4C= (n.2156-4C=)
c.2018-4C= (n.2018-4C=)
c.4580-4C= (n.4580-4C=)
c.5345-4C= (n.5345-4C=)
c.5534-4C= (n.5534-4C=)
c.5327-4C= (n.5327-4C=)
c.2030-4C= (n.2030-4C=)
n.1351-4C=
n.832-4C=
c.5531-4C= (n.5531-4C=)
c.1855-4C=
c.2042-4C= (n.2042-4C=)
c.*5251-4C= (n.*5251-4C=)
c.2082-4C= (n.2082-4C=)
c.398-4C= (n.398-4C=)
c.941-4C= (n.941-4C=)
c.167-4C= (n.167-4C=)
n.5604-4C=
n.5645-4C=
17g.43045806G>TCA915950027BRCA1c.5465-4C>A (n.5465-4C>A)
c.5468-4C>A (n.5468-4C>A)
c.5342-4C>A (n.5342-4C>A)
c.5462-4C>A (n.5462-4C>A)
c.5390-4C>A (n.5390-4C>A)
c.2156-4C>A (n.2156-4C>A)
c.2018-4C>A (n.2018-4C>A)
c.4580-4C>A (n.4580-4C>A)
c.5345-4C>A (n.5345-4C>A)
c.5534-4C>A (n.5534-4C>A)
c.5327-4C>A (n.5327-4C>A)
c.2030-4C>A (n.2030-4C>A)
n.1351-4C>A
n.832-4C>A
c.5531-4C>A (n.5531-4C>A)
c.1855-4C>A
c.2042-4C>A (n.2042-4C>A)
c.*5251-4C>A (n.*5251-4C>A)
c.2082-4C>A (n.2082-4C>A)
c.398-4C>A (n.398-4C>A)
c.941-4C>A (n.941-4C>A)
c.167-4C>A (n.167-4C>A)
n.5604-4C>A
n.5645-4C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045807A=CA2260761168BRCA1c.5465-5T= (n.5465-5T=)
c.5468-5T= (n.5468-5T=)
c.5342-5T= (n.5342-5T=)
c.5462-5T= (n.5462-5T=)
c.5390-5T= (n.5390-5T=)
c.2156-5T= (n.2156-5T=)
c.2018-5T= (n.2018-5T=)
c.4580-5T= (n.4580-5T=)
c.5345-5T= (n.5345-5T=)
c.5534-5T= (n.5534-5T=)
c.5327-5T= (n.5327-5T=)
c.2030-5T= (n.2030-5T=)
n.1351-5T=
n.832-5T=
c.5531-5T= (n.5531-5T=)
c.1855-5T=
c.2042-5T= (n.2042-5T=)
c.*5251-5T= (n.*5251-5T=)
c.2082-5T= (n.2082-5T=)
c.398-5T= (n.398-5T=)
c.941-5T= (n.941-5T=)
c.167-5T= (n.167-5T=)
n.5604-5T=
n.5645-5T=
17g.43045807A>CCA003627BRCA1c.5465-5T>G (n.5465-5T>G)
c.5468-5T>G (n.5468-5T>G)
c.5342-5T>G (n.5342-5T>G)
c.5462-5T>G (n.5462-5T>G)
c.5390-5T>G (n.5390-5T>G)
c.2156-5T>G (n.2156-5T>G)
c.2018-5T>G (n.2018-5T>G)
c.4580-5T>G (n.4580-5T>G)
c.5345-5T>G (n.5345-5T>G)
c.5534-5T>G (n.5534-5T>G)
c.5327-5T>G (n.5327-5T>G)
c.2030-5T>G (n.2030-5T>G)
n.1351-5T>G
n.832-5T>G
c.5531-5T>G (n.5531-5T>G)
c.1855-5T>G
c.2042-5T>G (n.2042-5T>G)
c.*5251-5T>G (n.*5251-5T>G)
c.2082-5T>G (n.2082-5T>G)
c.398-5T>G (n.398-5T>G)
c.941-5T>G (n.941-5T>G)
c.167-5T>G (n.167-5T>G)
n.5604-5T>G
n.5645-5T>G
 ClinVar dbSNP
17g.43045807A>GCA916080706BRCA1c.5465-5T>C (n.5465-5T>C)
c.5468-5T>C (n.5468-5T>C)
c.5342-5T>C (n.5342-5T>C)
c.5462-5T>C (n.5462-5T>C)
c.5390-5T>C (n.5390-5T>C)
c.2156-5T>C (n.2156-5T>C)
c.2018-5T>C (n.2018-5T>C)
c.4580-5T>C (n.4580-5T>C)
c.5345-5T>C (n.5345-5T>C)
c.5534-5T>C (n.5534-5T>C)
c.5327-5T>C (n.5327-5T>C)
c.2030-5T>C (n.2030-5T>C)
n.1351-5T>C
n.832-5T>C
c.5531-5T>C (n.5531-5T>C)
c.1855-5T>C
c.2042-5T>C (n.2042-5T>C)
c.*5251-5T>C (n.*5251-5T>C)
c.2082-5T>C (n.2082-5T>C)
c.398-5T>C (n.398-5T>C)
c.941-5T>C (n.941-5T>C)
c.167-5T>C (n.167-5T>C)
n.5604-5T>C
n.5645-5T>C
 ClinVar dbSNP
17g.43045807A>TCA916080707BRCA1c.5465-5T>A (n.5465-5T>A)
c.5468-5T>A (n.5468-5T>A)
c.5342-5T>A (n.5342-5T>A)
c.5462-5T>A (n.5462-5T>A)
c.5390-5T>A (n.5390-5T>A)
c.2156-5T>A (n.2156-5T>A)
c.2018-5T>A (n.2018-5T>A)
c.4580-5T>A (n.4580-5T>A)
c.5345-5T>A (n.5345-5T>A)
c.5534-5T>A (n.5534-5T>A)
c.5327-5T>A (n.5327-5T>A)
c.2030-5T>A (n.2030-5T>A)
n.1351-5T>A
n.832-5T>A
c.5531-5T>A (n.5531-5T>A)
c.1855-5T>A
c.2042-5T>A (n.2042-5T>A)
c.*5251-5T>A (n.*5251-5T>A)
c.2082-5T>A (n.2082-5T>A)
c.398-5T>A (n.398-5T>A)
c.941-5T>A (n.941-5T>A)
c.167-5T>A (n.167-5T>A)
n.5604-5T>A
n.5645-5T>A
 ClinVar dbSNP
17g.43045808G>ACA916080708BRCA1c.5465-6C>T (n.5465-6C>T)
c.5468-6C>T (n.5468-6C>T)
c.5342-6C>T (n.5342-6C>T)
c.5462-6C>T (n.5462-6C>T)
c.5390-6C>T (n.5390-6C>T)
c.2156-6C>T (n.2156-6C>T)
c.2018-6C>T (n.2018-6C>T)
c.4580-6C>T (n.4580-6C>T)
c.5345-6C>T (n.5345-6C>T)
c.5534-6C>T (n.5534-6C>T)
c.5327-6C>T (n.5327-6C>T)
c.2030-6C>T (n.2030-6C>T)
n.1351-6C>T
n.832-6C>T
c.5531-6C>T (n.5531-6C>T)
c.1855-6C>T
c.2042-6C>T (n.2042-6C>T)
c.*5251-6C>T (n.*5251-6C>T)
c.2082-6C>T (n.2082-6C>T)
c.398-6C>T (n.398-6C>T)
c.941-6C>T (n.941-6C>T)
c.167-6C>T (n.167-6C>T)
n.5604-6C>T
n.5645-6C>T
 ClinVar dbSNP gnomAD v4
17g.43045808G>CCA916080709BRCA1c.5465-6C>G (n.5465-6C>G)
c.5468-6C>G (n.5468-6C>G)
c.5342-6C>G (n.5342-6C>G)
c.5462-6C>G (n.5462-6C>G)
c.5390-6C>G (n.5390-6C>G)
c.2156-6C>G (n.2156-6C>G)
c.2018-6C>G (n.2018-6C>G)
c.4580-6C>G (n.4580-6C>G)
c.5345-6C>G (n.5345-6C>G)
c.5534-6C>G (n.5534-6C>G)
c.5327-6C>G (n.5327-6C>G)
c.2030-6C>G (n.2030-6C>G)
n.1351-6C>G
n.832-6C>G
c.5531-6C>G (n.5531-6C>G)
c.1855-6C>G
c.2042-6C>G (n.2042-6C>G)
c.*5251-6C>G (n.*5251-6C>G)
c.2082-6C>G (n.2082-6C>G)
c.398-6C>G (n.398-6C>G)
c.941-6C>G (n.941-6C>G)
c.167-6C>G (n.167-6C>G)
n.5604-6C>G
n.5645-6C>G
 ClinVar dbSNP
17g.43045808G=CA2260761169BRCA1c.5465-6C= (n.5465-6C=)
c.5468-6C= (n.5468-6C=)
c.5342-6C= (n.5342-6C=)
c.5462-6C= (n.5462-6C=)
c.5390-6C= (n.5390-6C=)
c.2156-6C= (n.2156-6C=)
c.2018-6C= (n.2018-6C=)
c.4580-6C= (n.4580-6C=)
c.5345-6C= (n.5345-6C=)
c.5534-6C= (n.5534-6C=)
c.5327-6C= (n.5327-6C=)
c.2030-6C= (n.2030-6C=)
n.1351-6C=
n.832-6C=
c.5531-6C= (n.5531-6C=)
c.1855-6C=
c.2042-6C= (n.2042-6C=)
c.*5251-6C= (n.*5251-6C=)
c.2082-6C= (n.2082-6C=)
c.398-6C= (n.398-6C=)
c.941-6C= (n.941-6C=)
c.167-6C= (n.167-6C=)
n.5604-6C=
n.5645-6C=
17g.43045808G>TCA916080710BRCA1c.5465-6C>A (n.5465-6C>A)
c.5468-6C>A (n.5468-6C>A)
c.5342-6C>A (n.5342-6C>A)
c.5462-6C>A (n.5462-6C>A)
c.5390-6C>A (n.5390-6C>A)
c.2156-6C>A (n.2156-6C>A)
c.2018-6C>A (n.2018-6C>A)
c.4580-6C>A (n.4580-6C>A)
c.5345-6C>A (n.5345-6C>A)
c.5534-6C>A (n.5534-6C>A)
c.5327-6C>A (n.5327-6C>A)
c.2030-6C>A (n.2030-6C>A)
n.1351-6C>A
n.832-6C>A
c.5531-6C>A (n.5531-6C>A)
c.1855-6C>A
c.2042-6C>A (n.2042-6C>A)
c.*5251-6C>A (n.*5251-6C>A)
c.2082-6C>A (n.2082-6C>A)
c.398-6C>A (n.398-6C>A)
c.941-6C>A (n.941-6C>A)
c.167-6C>A (n.167-6C>A)
n.5604-6C>A
n.5645-6C>A
 ClinVar dbSNP
17g.43045809A=CA2260761170BRCA1c.5465-7T= (n.5465-7T=)
c.5468-7T= (n.5468-7T=)
c.5342-7T= (n.5342-7T=)
c.5462-7T= (n.5462-7T=)
c.5390-7T= (n.5390-7T=)
c.2156-7T= (n.2156-7T=)
c.2018-7T= (n.2018-7T=)
c.4580-7T= (n.4580-7T=)
c.5345-7T= (n.5345-7T=)
c.5534-7T= (n.5534-7T=)
c.5327-7T= (n.5327-7T=)
c.2030-7T= (n.2030-7T=)
n.1351-7T=
n.832-7T=
c.5531-7T= (n.5531-7T=)
c.1855-7T=
c.2042-7T= (n.2042-7T=)
c.*5251-7T= (n.*5251-7T=)
c.2082-7T= (n.2082-7T=)
c.398-7T= (n.398-7T=)
c.941-7T= (n.941-7T=)
c.167-7T= (n.167-7T=)
n.5604-7T=
n.5645-7T=
17g.43045809A>CCA916080713BRCA1c.5465-7T>G (n.5465-7T>G)
c.5468-7T>G (n.5468-7T>G)
c.5342-7T>G (n.5342-7T>G)
c.5462-7T>G (n.5462-7T>G)
c.5390-7T>G (n.5390-7T>G)
c.2156-7T>G (n.2156-7T>G)
c.2018-7T>G (n.2018-7T>G)
c.4580-7T>G (n.4580-7T>G)
c.5345-7T>G (n.5345-7T>G)
c.5534-7T>G (n.5534-7T>G)
c.5327-7T>G (n.5327-7T>G)
c.2030-7T>G (n.2030-7T>G)
n.1351-7T>G
n.832-7T>G
c.5531-7T>G (n.5531-7T>G)
c.1855-7T>G
c.2042-7T>G (n.2042-7T>G)
c.*5251-7T>G (n.*5251-7T>G)
c.2082-7T>G (n.2082-7T>G)
c.398-7T>G (n.398-7T>G)
c.941-7T>G (n.941-7T>G)
c.167-7T>G (n.167-7T>G)
n.5604-7T>G
n.5645-7T>G
 ClinVar dbSNP
17g.43045809A>GCA916080711BRCA1c.5465-7T>C (n.5465-7T>C)
c.5468-7T>C (n.5468-7T>C)
c.5342-7T>C (n.5342-7T>C)
c.5462-7T>C (n.5462-7T>C)
c.5390-7T>C (n.5390-7T>C)
c.2156-7T>C (n.2156-7T>C)
c.2018-7T>C (n.2018-7T>C)
c.4580-7T>C (n.4580-7T>C)
c.5345-7T>C (n.5345-7T>C)
c.5534-7T>C (n.5534-7T>C)
c.5327-7T>C (n.5327-7T>C)
c.2030-7T>C (n.2030-7T>C)
n.1351-7T>C
n.832-7T>C
c.5531-7T>C (n.5531-7T>C)
c.1855-7T>C
c.2042-7T>C (n.2042-7T>C)
c.*5251-7T>C (n.*5251-7T>C)
c.2082-7T>C (n.2082-7T>C)
c.398-7T>C (n.398-7T>C)
c.941-7T>C (n.941-7T>C)
c.167-7T>C (n.167-7T>C)
n.5604-7T>C
n.5645-7T>C
 ClinVar dbSNP
17g.43045809A>TCA916080712BRCA1c.5465-7T>A (n.5465-7T>A)
c.5468-7T>A (n.5468-7T>A)
c.5342-7T>A (n.5342-7T>A)
c.5462-7T>A (n.5462-7T>A)
c.5390-7T>A (n.5390-7T>A)
c.2156-7T>A (n.2156-7T>A)
c.2018-7T>A (n.2018-7T>A)
c.4580-7T>A (n.4580-7T>A)
c.5345-7T>A (n.5345-7T>A)
c.5534-7T>A (n.5534-7T>A)
c.5327-7T>A (n.5327-7T>A)
c.2030-7T>A (n.2030-7T>A)
n.1351-7T>A
n.832-7T>A
c.5531-7T>A (n.5531-7T>A)
c.1855-7T>A
c.2042-7T>A (n.2042-7T>A)
c.*5251-7T>A (n.*5251-7T>A)
c.2082-7T>A (n.2082-7T>A)
c.398-7T>A (n.398-7T>A)
c.941-7T>A (n.941-7T>A)
c.167-7T>A (n.167-7T>A)
n.5604-7T>A
n.5645-7T>A
 ClinVar dbSNP
17g.43045810C>ACA915950028BRCA1c.5465-8G>T (n.5465-8G>T)
c.5468-8G>T (n.5468-8G>T)
c.5342-8G>T (n.5342-8G>T)
c.5462-8G>T (n.5462-8G>T)
c.5390-8G>T (n.5390-8G>T)
c.2156-8G>T (n.2156-8G>T)
c.2018-8G>T (n.2018-8G>T)
c.4580-8G>T (n.4580-8G>T)
c.5345-8G>T (n.5345-8G>T)
c.5534-8G>T (n.5534-8G>T)
c.5327-8G>T (n.5327-8G>T)
c.2030-8G>T (n.2030-8G>T)
n.1351-8G>T
n.832-8G>T
c.5531-8G>T (n.5531-8G>T)
c.1855-8G>T
c.2042-8G>T (n.2042-8G>T)
c.*5251-8G>T (n.*5251-8G>T)
c.2082-8G>T (n.2082-8G>T)
c.398-8G>T (n.398-8G>T)
c.941-8G>T (n.941-8G>T)
c.167-8G>T (n.167-8G>T)
n.5604-8G>T
n.5645-8G>T
 ClinVar dbSNP
17g.43045810C=CA2260761171BRCA1c.5465-8G= (n.5465-8G=)
c.5468-8G= (n.5468-8G=)
c.5342-8G= (n.5342-8G=)
c.5462-8G= (n.5462-8G=)
c.5390-8G= (n.5390-8G=)
c.2156-8G= (n.2156-8G=)
c.2018-8G= (n.2018-8G=)
c.4580-8G= (n.4580-8G=)
c.5345-8G= (n.5345-8G=)
c.5534-8G= (n.5534-8G=)
c.5327-8G= (n.5327-8G=)
c.2030-8G= (n.2030-8G=)
n.1351-8G=
n.832-8G=
c.5531-8G= (n.5531-8G=)
c.1855-8G=
c.2042-8G= (n.2042-8G=)
c.*5251-8G= (n.*5251-8G=)
c.2082-8G= (n.2082-8G=)
c.398-8G= (n.398-8G=)
c.941-8G= (n.941-8G=)
c.167-8G= (n.167-8G=)
n.5604-8G=
n.5645-8G=
17g.43045810C>GCA916080714BRCA1c.5465-8G>C (n.5465-8G>C)
c.5468-8G>C (n.5468-8G>C)
c.5342-8G>C (n.5342-8G>C)
c.5462-8G>C (n.5462-8G>C)
c.5390-8G>C (n.5390-8G>C)
c.2156-8G>C (n.2156-8G>C)
c.2018-8G>C (n.2018-8G>C)
c.4580-8G>C (n.4580-8G>C)
c.5345-8G>C (n.5345-8G>C)
c.5534-8G>C (n.5534-8G>C)
c.5327-8G>C (n.5327-8G>C)
c.2030-8G>C (n.2030-8G>C)
n.1351-8G>C
n.832-8G>C
c.5531-8G>C (n.5531-8G>C)
c.1855-8G>C
c.2042-8G>C (n.2042-8G>C)
c.*5251-8G>C (n.*5251-8G>C)
c.2082-8G>C (n.2082-8G>C)
c.398-8G>C (n.398-8G>C)
c.941-8G>C (n.941-8G>C)
c.167-8G>C (n.167-8G>C)
n.5604-8G>C
n.5645-8G>C
 ClinVar dbSNP
17g.43045810C>TCA916080715BRCA1c.5465-8G>A (n.5465-8G>A)
c.5468-8G>A (n.5468-8G>A)
c.5342-8G>A (n.5342-8G>A)
c.5462-8G>A (n.5462-8G>A)
c.5390-8G>A (n.5390-8G>A)
c.2156-8G>A (n.2156-8G>A)
c.2018-8G>A (n.2018-8G>A)
c.4580-8G>A (n.4580-8G>A)
c.5345-8G>A (n.5345-8G>A)
c.5534-8G>A (n.5534-8G>A)
c.5327-8G>A (n.5327-8G>A)
c.2030-8G>A (n.2030-8G>A)
n.1351-8G>A
n.832-8G>A
c.5531-8G>A (n.5531-8G>A)
c.1855-8G>A
c.2042-8G>A (n.2042-8G>A)
c.*5251-8G>A (n.*5251-8G>A)
c.2082-8G>A (n.2082-8G>A)
c.398-8G>A (n.398-8G>A)
c.941-8G>A (n.941-8G>A)
c.167-8G>A (n.167-8G>A)
n.5604-8G>A
n.5645-8G>A
 ClinVar dbSNP
17g.43045810_43045812delinsCAGCA2260761172BRCA1c.5465-10_5465-8delinsCTG (n.5465-10_5465-8delinsCTG)
c.5468-10_5468-8delinsCTG (n.5468-10_5468-8delinsCTG)
c.5342-10_5342-8delinsCTG (n.5342-10_5342-8delinsCTG)
c.5462-10_5462-8delinsCTG (n.5462-10_5462-8delinsCTG)
c.5390-10_5390-8delinsCTG (n.5390-10_5390-8delinsCTG)
c.2156-10_2156-8delinsCTG (n.2156-10_2156-8delinsCTG)
c.2018-10_2018-8delinsCTG (n.2018-10_2018-8delinsCTG)
c.4580-10_4580-8delinsCTG (n.4580-10_4580-8delinsCTG)
c.5345-10_5345-8delinsCTG (n.5345-10_5345-8delinsCTG)
c.5534-10_5534-8delinsCTG (n.5534-10_5534-8delinsCTG)
c.5327-10_5327-8delinsCTG (n.5327-10_5327-8delinsCTG)
c.2030-10_2030-8delinsCTG (n.2030-10_2030-8delinsCTG)
n.1351-10_1351-8delinsCTG
n.832-10_832-8delinsCTG
c.5531-10_5531-8delinsCTG (n.5531-10_5531-8delinsCTG)
c.1855-10_1855-8delinsCTG
c.2042-10_2042-8delinsCTG (n.2042-10_2042-8delinsCTG)
c.*5251-10_*5251-8delinsCTG (n.*5251-10_*5251-8delinsCTG)
c.2082-10_2082-8delinsCTG (n.2082-10_2082-8delinsCTG)
c.398-10_398-8delinsCTG (n.398-10_398-8delinsCTG)
c.941-10_941-8delinsCTG (n.941-10_941-8delinsCTG)
c.167-10_167-8delinsCTG (n.167-10_167-8delinsCTG)
n.5604-10_5604-8delinsCTG
n.5645-10_5645-8delinsCTG
17g.43045811A=CA2260761173BRCA1c.5465-9T= (n.5465-9T=)
c.5468-9T= (n.5468-9T=)
c.5342-9T= (n.5342-9T=)
c.5462-9T= (n.5462-9T=)
c.5390-9T= (n.5390-9T=)
c.2156-9T= (n.2156-9T=)
c.2018-9T= (n.2018-9T=)
c.4580-9T= (n.4580-9T=)
c.5345-9T= (n.5345-9T=)
c.5534-9T= (n.5534-9T=)
c.5327-9T= (n.5327-9T=)
c.2030-9T= (n.2030-9T=)
n.1351-9T=
n.832-9T=
c.5531-9T= (n.5531-9T=)
c.1855-9T=
c.2042-9T= (n.2042-9T=)
c.*5251-9T= (n.*5251-9T=)
c.2082-9T= (n.2082-9T=)
c.398-9T= (n.398-9T=)
c.941-9T= (n.941-9T=)
c.167-9T= (n.167-9T=)
n.5604-9T=
n.5645-9T=
17g.43045811A>CCA916080716BRCA1c.5465-9T>G (n.5465-9T>G)
c.5468-9T>G (n.5468-9T>G)
c.5342-9T>G (n.5342-9T>G)
c.5462-9T>G (n.5462-9T>G)
c.5390-9T>G (n.5390-9T>G)
c.2156-9T>G (n.2156-9T>G)
c.2018-9T>G (n.2018-9T>G)
c.4580-9T>G (n.4580-9T>G)
c.5345-9T>G (n.5345-9T>G)
c.5534-9T>G (n.5534-9T>G)
c.5327-9T>G (n.5327-9T>G)
c.2030-9T>G (n.2030-9T>G)
n.1351-9T>G
n.832-9T>G
c.5531-9T>G (n.5531-9T>G)
c.1855-9T>G
c.2042-9T>G (n.2042-9T>G)
c.*5251-9T>G (n.*5251-9T>G)
c.2082-9T>G (n.2082-9T>G)
c.398-9T>G (n.398-9T>G)
c.941-9T>G (n.941-9T>G)
c.167-9T>G (n.167-9T>G)
n.5604-9T>G
n.5645-9T>G
 ClinVar dbSNP gnomAD v4
17g.43045811A>GCA916080718BRCA1c.5465-9T>C (n.5465-9T>C)
c.5468-9T>C (n.5468-9T>C)
c.5342-9T>C (n.5342-9T>C)
c.5462-9T>C (n.5462-9T>C)
c.5390-9T>C (n.5390-9T>C)
c.2156-9T>C (n.2156-9T>C)
c.2018-9T>C (n.2018-9T>C)
c.4580-9T>C (n.4580-9T>C)
c.5345-9T>C (n.5345-9T>C)
c.5534-9T>C (n.5534-9T>C)
c.5327-9T>C (n.5327-9T>C)
c.2030-9T>C (n.2030-9T>C)
n.1351-9T>C
n.832-9T>C
c.5531-9T>C (n.5531-9T>C)
c.1855-9T>C
c.2042-9T>C (n.2042-9T>C)
c.*5251-9T>C (n.*5251-9T>C)
c.2082-9T>C (n.2082-9T>C)
c.398-9T>C (n.398-9T>C)
c.941-9T>C (n.941-9T>C)
c.167-9T>C (n.167-9T>C)
n.5604-9T>C
n.5645-9T>C
 ClinVar dbSNP
17g.43045811A>TCA916080717BRCA1c.5465-9T>A (n.5465-9T>A)
c.5468-9T>A (n.5468-9T>A)
c.5342-9T>A (n.5342-9T>A)
c.5462-9T>A (n.5462-9T>A)
c.5390-9T>A (n.5390-9T>A)
c.2156-9T>A (n.2156-9T>A)
c.2018-9T>A (n.2018-9T>A)
c.4580-9T>A (n.4580-9T>A)
c.5345-9T>A (n.5345-9T>A)
c.5534-9T>A (n.5534-9T>A)
c.5327-9T>A (n.5327-9T>A)
c.2030-9T>A (n.2030-9T>A)
n.1351-9T>A
n.832-9T>A
c.5531-9T>A (n.5531-9T>A)
c.1855-9T>A
c.2042-9T>A (n.2042-9T>A)
c.*5251-9T>A (n.*5251-9T>A)
c.2082-9T>A (n.2082-9T>A)
c.398-9T>A (n.398-9T>A)
c.941-9T>A (n.941-9T>A)
c.167-9T>A (n.167-9T>A)
n.5604-9T>A
n.5645-9T>A
 ClinVar dbSNP
17g.43045811dupCA8589944BRCA1c.5465-9dup (n.5465-9dup)
c.5468-9dup (n.5468-9dup)
c.5342-9dup (n.5342-9dup)
c.5462-9dup (n.5462-9dup)
c.5390-9dup (n.5390-9dup)
c.2156-9dup (n.2156-9dup)
c.2018-9dup (n.2018-9dup)
c.4580-9dup (n.4580-9dup)
c.5345-9dup (n.5345-9dup)
c.5534-9dup (n.5534-9dup)
c.5327-9dup (n.5327-9dup)
c.2030-9dup (n.2030-9dup)
n.1351-9dup
n.832-9dup
c.5531-9dup (n.5531-9dup)
c.1855-9dup
c.2042-9dup (n.2042-9dup)
c.*5251-9dup (n.*5251-9dup)
c.2082-9dup (n.2082-9dup)
c.398-9dup (n.398-9dup)
c.941-9dup (n.941-9dup)
c.167-9dup (n.167-9dup)
n.5604-9dup
n.5645-9dup
 dbSNP ExAC gnomAD v4
17g.43045814_43045815delCA003619BRCA1c.5465-10_5465-9del (n.5465-10_5465-9del)
c.5468-10_5468-9del (n.5468-10_5468-9del)
c.5342-10_5342-9del (n.5342-10_5342-9del)
c.5462-10_5462-9del (n.5462-10_5462-9del)
c.5390-10_5390-9del (n.5390-10_5390-9del)
c.2156-10_2156-9del (n.2156-10_2156-9del)
c.2018-10_2018-9del (n.2018-10_2018-9del)
c.4580-10_4580-9del (n.4580-10_4580-9del)
c.5345-10_5345-9del (n.5345-10_5345-9del)
c.5534-10_5534-9del (n.5534-10_5534-9del)
c.5327-10_5327-9del (n.5327-10_5327-9del)
c.2030-10_2030-9del (n.2030-10_2030-9del)
n.1351-10_1351-9del
n.832-10_832-9del
c.5531-10_5531-9del (n.5531-10_5531-9del)
c.1855-10_1855-9del
c.2042-10_2042-9del (n.2042-10_2042-9del)
c.*5251-10_*5251-9del (n.*5251-10_*5251-9del)
c.2082-10_2082-9del (n.2082-10_2082-9del)
c.398-10_398-9del (n.398-10_398-9del)
c.941-10_941-9del (n.941-10_941-9del)
c.167-10_167-9del (n.167-10_167-9del)
n.5604-10_5604-9del
n.5645-10_5645-9del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045812_43045815delCA2638036270BRCA1c.5465-12_5465-9del (n.5465-12_5465-9del)
c.5468-12_5468-9del (n.5468-12_5468-9del)
c.5342-12_5342-9del (n.5342-12_5342-9del)
c.5462-12_5462-9del (n.5462-12_5462-9del)
c.5390-12_5390-9del (n.5390-12_5390-9del)
c.2156-12_2156-9del (n.2156-12_2156-9del)
c.2018-12_2018-9del (n.2018-12_2018-9del)
c.4580-12_4580-9del (n.4580-12_4580-9del)
c.5345-12_5345-9del (n.5345-12_5345-9del)
c.5534-12_5534-9del (n.5534-12_5534-9del)
c.5327-12_5327-9del (n.5327-12_5327-9del)
c.2030-12_2030-9del (n.2030-12_2030-9del)
n.1351-12_1351-9del
n.832-12_832-9del
c.5531-12_5531-9del (n.5531-12_5531-9del)
c.1855-12_1855-9del
c.2042-12_2042-9del (n.2042-12_2042-9del)
c.*5251-12_*5251-9del (n.*5251-12_*5251-9del)
c.2082-12_2082-9del (n.2082-12_2082-9del)
c.398-12_398-9del (n.398-12_398-9del)
c.941-12_941-9del (n.941-12_941-9del)
c.167-12_167-9del (n.167-12_167-9del)
n.5604-12_5604-9del
n.5645-12_5645-9del
 gnomAD v4
17g.43045812G>ACA658798054BRCA1c.5465-10C>T (n.5465-10C>T)
c.5468-10C>T (n.5468-10C>T)
c.5342-10C>T (n.5342-10C>T)
c.5462-10C>T (n.5462-10C>T)
c.5390-10C>T (n.5390-10C>T)
c.2156-10C>T (n.2156-10C>T)
c.2018-10C>T (n.2018-10C>T)
c.4580-10C>T (n.4580-10C>T)
c.5345-10C>T (n.5345-10C>T)
c.5534-10C>T (n.5534-10C>T)
c.5327-10C>T (n.5327-10C>T)
c.2030-10C>T (n.2030-10C>T)
n.1351-10C>T
n.832-10C>T
c.5531-10C>T (n.5531-10C>T)
c.1855-10C>T
c.2042-10C>T (n.2042-10C>T)
c.*5251-10C>T (n.*5251-10C>T)
c.2082-10C>T (n.2082-10C>T)
c.398-10C>T (n.398-10C>T)
c.941-10C>T (n.941-10C>T)
c.167-10C>T (n.167-10C>T)
n.5604-10C>T
n.5645-10C>T
 ClinVar dbSNP
17g.43045812G>CCA916080719BRCA1c.5465-10C>G (n.5465-10C>G)
c.5468-10C>G (n.5468-10C>G)
c.5342-10C>G (n.5342-10C>G)
c.5462-10C>G (n.5462-10C>G)
c.5390-10C>G (n.5390-10C>G)
c.2156-10C>G (n.2156-10C>G)
c.2018-10C>G (n.2018-10C>G)
c.4580-10C>G (n.4580-10C>G)
c.5345-10C>G (n.5345-10C>G)
c.5534-10C>G (n.5534-10C>G)
c.5327-10C>G (n.5327-10C>G)
c.2030-10C>G (n.2030-10C>G)
n.1351-10C>G
n.832-10C>G
c.5531-10C>G (n.5531-10C>G)
c.1855-10C>G
c.2042-10C>G (n.2042-10C>G)
c.*5251-10C>G (n.*5251-10C>G)
c.2082-10C>G (n.2082-10C>G)
c.398-10C>G (n.398-10C>G)
c.941-10C>G (n.941-10C>G)
c.167-10C>G (n.167-10C>G)
n.5604-10C>G
n.5645-10C>G
 ClinVar dbSNP gnomAD v4
17g.43045812G=CA2260761174BRCA1c.5465-10C= (n.5465-10C=)
c.5468-10C= (n.5468-10C=)
c.5342-10C= (n.5342-10C=)
c.5462-10C= (n.5462-10C=)
c.5390-10C= (n.5390-10C=)
c.2156-10C= (n.2156-10C=)
c.2018-10C= (n.2018-10C=)
c.4580-10C= (n.4580-10C=)
c.5345-10C= (n.5345-10C=)
c.5534-10C= (n.5534-10C=)
c.5327-10C= (n.5327-10C=)
c.2030-10C= (n.2030-10C=)
n.1351-10C=
n.832-10C=
c.5531-10C= (n.5531-10C=)
c.1855-10C=
c.2042-10C= (n.2042-10C=)
c.*5251-10C= (n.*5251-10C=)
c.2082-10C= (n.2082-10C=)
c.398-10C= (n.398-10C=)
c.941-10C= (n.941-10C=)
c.167-10C= (n.167-10C=)
n.5604-10C=
n.5645-10C=
17g.43045812G>TCA003620BRCA1c.5465-10C>A (n.5465-10C>A)
c.5468-10C>A (n.5468-10C>A)
c.5342-10C>A (n.5342-10C>A)
c.5462-10C>A (n.5462-10C>A)
c.5390-10C>A (n.5390-10C>A)
c.2156-10C>A (n.2156-10C>A)
c.2018-10C>A (n.2018-10C>A)
c.4580-10C>A (n.4580-10C>A)
c.5345-10C>A (n.5345-10C>A)
c.5534-10C>A (n.5534-10C>A)
c.5327-10C>A (n.5327-10C>A)
c.2030-10C>A (n.2030-10C>A)
n.1351-10C>A
n.832-10C>A
c.5531-10C>A (n.5531-10C>A)
c.1855-10C>A
c.2042-10C>A (n.2042-10C>A)
c.*5251-10C>A (n.*5251-10C>A)
c.2082-10C>A (n.2082-10C>A)
c.398-10C>A (n.398-10C>A)
c.941-10C>A (n.941-10C>A)
c.167-10C>A (n.167-10C>A)
n.5604-10C>A
n.5645-10C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045813A>GCA2573154015BRCA1c.5465-11T>C (n.5465-11T>C)
c.5468-11T>C (n.5468-11T>C)
c.5342-11T>C (n.5342-11T>C)
c.5462-11T>C (n.5462-11T>C)
c.5390-11T>C (n.5390-11T>C)
c.2156-11T>C (n.2156-11T>C)
c.2018-11T>C (n.2018-11T>C)
c.4580-11T>C (n.4580-11T>C)
c.5345-11T>C (n.5345-11T>C)
c.5534-11T>C (n.5534-11T>C)
c.5327-11T>C (n.5327-11T>C)
c.2030-11T>C (n.2030-11T>C)
n.1351-11T>C
n.832-11T>C
c.5531-11T>C (n.5531-11T>C)
c.1855-11T>C
c.2042-11T>C (n.2042-11T>C)
c.*5251-11T>C (n.*5251-11T>C)
c.2082-11T>C (n.2082-11T>C)
c.398-11T>C (n.398-11T>C)
c.941-11T>C (n.941-11T>C)
c.167-11T>C (n.167-11T>C)
n.5604-11T>C
n.5645-11T>C
 ClinVar dbSNP
17g.43045813A>TCA2733916750BRCA1c.5465-11T>A (n.5465-11T>A)
c.5468-11T>A (n.5468-11T>A)
c.5342-11T>A (n.5342-11T>A)
c.5462-11T>A (n.5462-11T>A)
c.5390-11T>A (n.5390-11T>A)
c.2156-11T>A (n.2156-11T>A)
c.2018-11T>A (n.2018-11T>A)
c.4580-11T>A (n.4580-11T>A)
c.5345-11T>A (n.5345-11T>A)
c.5534-11T>A (n.5534-11T>A)
c.5327-11T>A (n.5327-11T>A)
c.2030-11T>A (n.2030-11T>A)
n.1351-11T>A
n.832-11T>A
c.5531-11T>A (n.5531-11T>A)
c.1855-11T>A
c.2042-11T>A (n.2042-11T>A)
c.*5251-11T>A (n.*5251-11T>A)
c.2082-11T>A (n.2082-11T>A)
c.398-11T>A (n.398-11T>A)
c.941-11T>A (n.941-11T>A)
c.167-11T>A (n.167-11T>A)
n.5604-11T>A
n.5645-11T>A
 dbSNP

Number of alleles fetched