Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084852_43094147delCA645369660BRCA1c.1385_4186-2276del
c.1259_4060-2276del
c.1382_4183-2279del
c.1307_4108-2276del
c.784+598_874-2276del
c.646+598_736-2276del
c.497_3298-2276del
c.1262_4063-2276del
c.1244_4045-2276del
c.664+598_754-2279del
c.706+598_796-2276del
c.670+1700_760-2276del
c.*1168_*3969-2276del
c.787+598_877-2276del
c.409+598_499-2276del
c.412+598_502-2276del
c.5-30195_5-20900del (n.5-30195_5-20900del)
c.-43-19625_-43-10330del (n.-43-19625_-43-10330del)
c.-99+31125_-98-34661del (n.-99+31125_-98-34661del)
n.1521_4322-2276del
n.1562_4363-2276del
 ClinVar
17g.43090942_43094828delCA2499224437BRCA1c.705_4185+4del
c.579_4059+4del
c.702_4182+4del
c.627_4107+4del
c.702_873+4del
c.564_735+4del
c.-184_3297+4del
c.582_4062+4del
c.564_4044+4del
c.582_753+4del
c.624_795+4del
c.670+1020_759+4del
c.*488_*3968+4del
c.705_876+4del
c.327_498+4del
c.330_501+4del
c.4+30356_5-26989del (n.4+30356_5-26989del)
c.-43-20305_-43-16419del (n.-43-20305_-43-16419del)
c.-99+30445_-99+34331del (n.-99+30445_-99+34331del)
n.841_4321+4del
n.882_4362+4del
 ClinVar
17g.43090946_43097291delCA2580061395BRCA1c.549_4185+1del
c.545-2428_4059+1del
c.546_4182+1del
c.471_4107+1del
c.546_873+1del
c.408_735+1del
c.-218-2428_3297+1del
c.548-2428_4062+1del
c.408_4044+1del
c.548-2428_753+1del
c.468_795+1del
c.549_759+1del
c.*332_*3968+1del
c.549_876+1del
c.293-2428_498+1del
c.296-2428_501+1del
c.4+27894_5-26992del (n.4+27894_5-26992del)
c.-43-22767_-43-16422del (n.-43-22767_-43-16422del)
c.-99+27983_-99+34328del (n.-99+27983_-99+34328del)
n.685_4321+1del
n.726_4362+1del
 ClinVar
17g.43091435_43094858dupCA2579756134BRCA1n.738_4161dup
c.674_4096+1dup
c.548_3970+1dup
c.671_4093+1dup
c.596_4018+1dup
c.671_785-402dup
c.533_647-402dup
c.-215_3208+1dup
c.551_3973+1dup
c.533_3955+1dup
c.551_665-402dup
c.593_707-402dup
c.670+989_671-402dup (n.670+989_671-402dup)
c.674_4097dup (p.Ile1367LeufsTer2)
c.*457_*3879+1dup
c.674_788-402dup
c.296_410-402dup
c.299_413-402dup
c.4+30325_5-27483dup (n.4+30325_5-27483dup)
c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup)
c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup)
n.810_4232+1dup
n.851_4273+1dup
17g.43091435_43094859dupCA2579756133BRCA1n.736_4160dup
c.672_4096dup (p.Gly1366ValfsTer10)
c.546_3970dup (p.Gly1324ValfsTer10)
c.669_4093dup (p.Gly1365ValfsTer10)
c.594_4018dup (p.Gly1340ValfsTer10)
c.669_785-403dup
c.531_647-403dup
c.-217_3208dup (p.Gly1070ValfsTer10)
c.549_3973dup (p.Gly1325ValfsTer10)
c.531_3955dup (p.Gly1319ValfsTer10)
c.549_665-403dup
c.591_707-403dup
c.670+987_671-403dup (n.670+987_671-403dup)
c.*455_*3879dup (n.*455_*3879dup)
c.672_788-403dup
c.294_410-403dup
c.297_413-403dup
c.4+30323_5-27484dup (n.4+30323_5-27484dup)
c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup)
c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup)
n.808_4232dup
n.849_4273dup
17g.43091437_43094862delCA2580618251BRCA1n.735_4160del
c.671_4096del
c.545_3970del
c.668_4093del
c.593_4018del
c.668_785-403del
c.530_647-403del
c.-218_3208del
c.548_3973del
c.530_3955del
c.548_665-403del
c.590_707-403del
c.670+986_671-403del (n.670+986_671-403del)
c.*454_*3879del
c.671_788-403del
c.293_410-403del
c.296_413-403del
c.4+30322_5-27484del (n.4+30322_5-27484del)
c.-43-20339_-43-16914del (n.-43-20339_-43-16914del)
c.-99+30411_-99+33836del (n.-99+30411_-99+33836del)
n.807_4232del
n.848_4273del
17g.43091633_43094861delCA2580618250BRCA1n.736_3964del
c.672_3900del
c.546_3774del
c.669_3897del
c.594_3822del
c.669_785-599del
c.531_647-599del
c.-217_3012del
c.549_3777del
c.531_3759del
c.549_665-599del
c.591_707-599del
c.670+987_671-599del (n.670+987_671-599del)
c.*455_*3683del
c.672_788-599del
c.294_410-599del
c.297_413-599del
c.4+30323_5-27680del (n.4+30323_5-27680del)
c.-43-20338_-43-17110del (n.-43-20338_-43-17110del)
c.-99+30412_-99+33640del (n.-99+30412_-99+33640del)
n.808_4036del
n.849_4077del
17g.43093311_43093377dupCA10589871BRCA1n.2219_2285dup
c.2155_2221dup (p.Ser741Ter)
c.2029_2095dup (p.Ser699Ter)
c.2152_2218dup (p.Ser740Ter)
c.2077_2143dup (p.Ser715Ter)
c.784+1368_784+1434dup (n.784+1368_784+1434dup)
c.646+1368_646+1434dup (n.646+1368_646+1434dup)
c.1267_1333dup (p.Ser445Ter)
c.2032_2098dup (p.Ser700Ter)
c.2014_2080dup (p.Ser694Ter)
c.664+1368_664+1434dup (n.664+1368_664+1434dup)
c.706+1368_706+1434dup (n.706+1368_706+1434dup)
c.671-2344_671-2278dup (n.671-2344_671-2278dup)
c.*1938_*2004dup (n.*1938_*2004dup)
c.787+1368_787+1434dup (n.787+1368_787+1434dup)
c.409+1368_409+1434dup (n.409+1368_409+1434dup)
c.412+1368_412+1434dup (n.412+1368_412+1434dup)
c.5-29425_5-29359dup (n.5-29425_5-29359dup)
c.-43-18855_-43-18789dup (n.-43-18855_-43-18789dup)
c.-99+31895_-99+31961dup (n.-99+31895_-99+31961dup)
n.2291_2357dup
n.2332_2398dup
 ClinVar dbSNP
17g.43093359_43093460delinsAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCTCA2260783879BRCA1n.2135_2236delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT
c.2071_2172delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg691=)
c.1945_2046delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg649=)
c.2068_2169delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg690=)
c.1993_2094delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg665=)
c.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.1183_1284delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg395=)
c.1948_2049delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg650=)
c.1930_2031delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg644=)
c.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
c.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT)
n.2207_2308delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT
n.2248_2349delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT
17g.43093360_43093460delCA658824015BRCA1n.2135_2235del
c.2071_2171del (p.Arg691Ter)
c.1945_2045del (p.Arg649Ter)
c.2068_2168del (p.Arg690Ter)
c.1993_2093del (p.Arg665Ter)
c.784+1284_784+1384del (n.784+1284_784+1384del)
c.646+1284_646+1384del (n.646+1284_646+1384del)
c.1183_1283del (p.Arg395Ter)
c.1948_2048del (p.Arg650Ter)
c.1930_2030del (p.Arg644Ter)
c.664+1284_664+1384del (n.664+1284_664+1384del)
c.706+1284_706+1384del (n.706+1284_706+1384del)
c.670+2386_671-2328del (n.670+2386_671-2328del)
c.*1854_*1954del (n.*1854_*1954del)
c.787+1284_787+1384del (n.787+1284_787+1384del)
c.409+1284_409+1384del (n.409+1284_409+1384del)
c.412+1284_412+1384del (n.412+1284_412+1384del)
c.5-29509_5-29409del (n.5-29509_5-29409del)
c.-43-18939_-43-18839del (n.-43-18939_-43-18839del)
c.-99+31811_-99+31911del (n.-99+31811_-99+31911del)
n.2207_2307del
n.2248_2348del
 ClinVar dbSNP
17g.43093362_43093376delinsATTGACAAATTCTTTCA2260783881BRCA1n.2219_2233delinsAAAGAATTTGTCAAT
c.2155_2169delinsAAAGAATTTGTCAAT (p.Lys719=)
c.2029_2043delinsAAAGAATTTGTCAAT (p.Lys677=)
c.2152_2166delinsAAAGAATTTGTCAAT (p.Lys718=)
c.2077_2091delinsAAAGAATTTGTCAAT (p.Lys693=)
c.784+1368_784+1382delinsAAAGAATTTGTCAAT (n.784+1368_784+1382delinsAAAGAATTTGTCAAT)
c.646+1368_646+1382delinsAAAGAATTTGTCAAT (n.646+1368_646+1382delinsAAAGAATTTGTCAAT)
c.1267_1281delinsAAAGAATTTGTCAAT (p.Lys423=)
c.2032_2046delinsAAAGAATTTGTCAAT (p.Lys678=)
c.2014_2028delinsAAAGAATTTGTCAAT (p.Lys672=)
c.664+1368_664+1382delinsAAAGAATTTGTCAAT (n.664+1368_664+1382delinsAAAGAATTTGTCAAT)
c.706+1368_706+1382delinsAAAGAATTTGTCAAT (n.706+1368_706+1382delinsAAAGAATTTGTCAAT)
c.671-2344_671-2330delinsAAAGAATTTGTCAAT (n.671-2344_671-2330delinsAAAGAATTTGTCAAT)
c.*1938_*1952delinsAAAGAATTTGTCAAT (n.*1938_*1952delinsAAAGAATTTGTCAAT)
c.787+1368_787+1382delinsAAAGAATTTGTCAAT (n.787+1368_787+1382delinsAAAGAATTTGTCAAT)
c.409+1368_409+1382delinsAAAGAATTTGTCAAT (n.409+1368_409+1382delinsAAAGAATTTGTCAAT)
c.412+1368_412+1382delinsAAAGAATTTGTCAAT (n.412+1368_412+1382delinsAAAGAATTTGTCAAT)
c.5-29425_5-29411delinsAAAGAATTTGTCAAT (n.5-29425_5-29411delinsAAAGAATTTGTCAAT)
c.-43-18855_-43-18841delinsAAAGAATTTGTCAAT (n.-43-18855_-43-18841delinsAAAGAATTTGTCAAT)
c.-99+31895_-99+31909delinsAAAGAATTTGTCAAT (n.-99+31895_-99+31909delinsAAAGAATTTGTCAAT)
n.2291_2305delinsAAAGAATTTGTCAAT
n.2332_2346delinsAAAGAATTTGTCAAT
17g.43093363_43093376delCA001441BRCA1n.2219_2232del
c.2155_2168del (p.Lys719SerfsTer2)
c.2029_2042del (p.Lys677SerfsTer2)
c.2152_2165del (p.Lys718SerfsTer2)
c.2077_2090del (p.Lys693SerfsTer2)
c.784+1368_784+1381del (n.784+1368_784+1381del)
c.646+1368_646+1381del (n.646+1368_646+1381del)
c.1267_1280del (p.Lys423SerfsTer2)
c.2032_2045del (p.Lys678SerfsTer2)
c.2014_2027del (p.Lys672SerfsTer2)
c.664+1368_664+1381del (n.664+1368_664+1381del)
c.706+1368_706+1381del (n.706+1368_706+1381del)
c.671-2344_671-2331del (n.671-2344_671-2331del)
c.*1938_*1951del (n.*1938_*1951del)
c.787+1368_787+1381del (n.787+1368_787+1381del)
c.409+1368_409+1381del (n.409+1368_409+1381del)
c.412+1368_412+1381del (n.412+1368_412+1381del)
c.5-29425_5-29412del (n.5-29425_5-29412del)
c.-43-18855_-43-18842del (n.-43-18855_-43-18842del)
c.-99+31895_-99+31908del (n.-99+31895_-99+31908del)
n.2291_2304del
n.2332_2345del
 ClinVar dbSNP
17g.43093367_43093376delinsCAAATTCTTTCA2260783887BRCA1n.2219_2228delinsAAAGAATTTG
c.2155_2164delinsAAAGAATTTG (p.Lys719=)
c.2029_2038delinsAAAGAATTTG (p.Lys677=)
c.2152_2161delinsAAAGAATTTG (p.Lys718=)
c.2077_2086delinsAAAGAATTTG (p.Lys693=)
c.784+1368_784+1377delinsAAAGAATTTG (n.784+1368_784+1377delinsAAAGAATTTG)
c.646+1368_646+1377delinsAAAGAATTTG (n.646+1368_646+1377delinsAAAGAATTTG)
c.1267_1276delinsAAAGAATTTG (p.Lys423=)
c.2032_2041delinsAAAGAATTTG (p.Lys678=)
c.2014_2023delinsAAAGAATTTG (p.Lys672=)
c.664+1368_664+1377delinsAAAGAATTTG (n.664+1368_664+1377delinsAAAGAATTTG)
c.706+1368_706+1377delinsAAAGAATTTG (n.706+1368_706+1377delinsAAAGAATTTG)
c.671-2344_671-2335delinsAAAGAATTTG (n.671-2344_671-2335delinsAAAGAATTTG)
c.*1938_*1947delinsAAAGAATTTG (n.*1938_*1947delinsAAAGAATTTG)
c.787+1368_787+1377delinsAAAGAATTTG (n.787+1368_787+1377delinsAAAGAATTTG)
c.409+1368_409+1377delinsAAAGAATTTG (n.409+1368_409+1377delinsAAAGAATTTG)
c.412+1368_412+1377delinsAAAGAATTTG (n.412+1368_412+1377delinsAAAGAATTTG)
c.5-29425_5-29416delinsAAAGAATTTG (n.5-29425_5-29416delinsAAAGAATTTG)
c.-43-18855_-43-18846delinsAAAGAATTTG (n.-43-18855_-43-18846delinsAAAGAATTTG)
c.-99+31895_-99+31904delinsAAAGAATTTG (n.-99+31895_-99+31904delinsAAAGAATTTG)
n.2291_2300delinsAAAGAATTTG
n.2332_2341delinsAAAGAATTTG
17g.43093368_43093375dupCA658684098BRCA1n.2220_2227dup
c.2156_2163dup (p.Val722LysfsTer17)
c.2030_2037dup (p.Val680LysfsTer17)
c.2153_2160dup (p.Val721LysfsTer17)
c.2078_2085dup (p.Val696LysfsTer17)
c.784+1369_784+1376dup (n.784+1369_784+1376dup)
c.646+1369_646+1376dup (n.646+1369_646+1376dup)
c.1268_1275dup (p.Val426LysfsTer17)
c.2033_2040dup (p.Val681LysfsTer17)
c.2015_2022dup (p.Val675LysfsTer17)
c.664+1369_664+1376dup (n.664+1369_664+1376dup)
c.706+1369_706+1376dup (n.706+1369_706+1376dup)
c.671-2343_671-2336dup (n.671-2343_671-2336dup)
c.*1939_*1946dup (n.*1939_*1946dup)
c.787+1369_787+1376dup (n.787+1369_787+1376dup)
c.409+1369_409+1376dup (n.409+1369_409+1376dup)
c.412+1369_412+1376dup (n.412+1369_412+1376dup)
c.5-29424_5-29417dup (n.5-29424_5-29417dup)
c.-43-18854_-43-18847dup (n.-43-18854_-43-18847dup)
c.-99+31896_-99+31903dup (n.-99+31896_-99+31903dup)
n.2292_2299dup
n.2333_2340dup
 ClinVar dbSNP
17g.43093370_43093378delCA337040BRCA1n.2219_2227del
c.2155_2163del (p.Lys719_Phe721del)
c.2029_2037del (p.Lys677_Phe679del)
c.2152_2160del (p.Lys718_Phe720del)
c.2077_2085del (p.Lys693_Phe695del)
c.784+1368_784+1376del (n.784+1368_784+1376del)
c.646+1368_646+1376del (n.646+1368_646+1376del)
c.1267_1275del (p.Lys423_Phe425del)
c.2032_2040del (p.Lys678_Phe680del)
c.2014_2022del (p.Lys672_Phe674del)
c.664+1368_664+1376del (n.664+1368_664+1376del)
c.706+1368_706+1376del (n.706+1368_706+1376del)
c.671-2344_671-2336del (n.671-2344_671-2336del)
c.*1938_*1946del (n.*1938_*1946del)
c.787+1368_787+1376del (n.787+1368_787+1376del)
c.409+1368_409+1376del (n.409+1368_409+1376del)
c.412+1368_412+1376del (n.412+1368_412+1376del)
c.5-29425_5-29417del (n.5-29425_5-29417del)
c.-43-18855_-43-18847del (n.-43-18855_-43-18847del)
c.-99+31895_-99+31903del (n.-99+31895_-99+31903del)
n.2291_2299del
n.2332_2340del
 ClinVar dbSNP
17g.43093370_43093371delinsATCA2260783893BRCA1n.2224_2225delinsAT
c.2160_2161delinsAT (p.Glu720=)
c.2034_2035delinsAT (p.Glu678=)
c.2157_2158delinsAT (p.Glu719=)
c.2082_2083delinsAT (p.Glu694=)
c.784+1373_784+1374delinsAT (n.784+1373_784+1374delinsAT)
c.646+1373_646+1374delinsAT (n.646+1373_646+1374delinsAT)
c.1272_1273delinsAT (p.Glu424=)
c.2037_2038delinsAT (p.Glu679=)
c.2019_2020delinsAT (p.Glu673=)
c.664+1373_664+1374delinsAT (n.664+1373_664+1374delinsAT)
c.706+1373_706+1374delinsAT (n.706+1373_706+1374delinsAT)
c.671-2339_671-2338delinsAT (n.671-2339_671-2338delinsAT)
c.*1943_*1944delinsAT (n.*1943_*1944delinsAT)
c.787+1373_787+1374delinsAT (n.787+1373_787+1374delinsAT)
c.409+1373_409+1374delinsAT (n.409+1373_409+1374delinsAT)
c.412+1373_412+1374delinsAT (n.412+1373_412+1374delinsAT)
c.5-29420_5-29419delinsAT (n.5-29420_5-29419delinsAT)
c.-43-18850_-43-18849delinsAT (n.-43-18850_-43-18849delinsAT)
c.-99+31900_-99+31901delinsAT (n.-99+31900_-99+31901delinsAT)
n.2296_2297delinsAT
n.2337_2338delinsAT
17g.43093370_43093374delinsATTCTCA2260783892BRCA1n.2221_2225delinsAGAAT
c.2157_2161delinsAGAAT (p.Lys719=)
c.2031_2035delinsAGAAT (p.Lys677=)
c.2154_2158delinsAGAAT (p.Lys718=)
c.2079_2083delinsAGAAT (p.Lys693=)
c.784+1370_784+1374delinsAGAAT (n.784+1370_784+1374delinsAGAAT)
c.646+1370_646+1374delinsAGAAT (n.646+1370_646+1374delinsAGAAT)
c.1269_1273delinsAGAAT (p.Lys423=)
c.2034_2038delinsAGAAT (p.Lys678=)
c.2016_2020delinsAGAAT (p.Lys672=)
c.664+1370_664+1374delinsAGAAT (n.664+1370_664+1374delinsAGAAT)
c.706+1370_706+1374delinsAGAAT (n.706+1370_706+1374delinsAGAAT)
c.671-2342_671-2338delinsAGAAT (n.671-2342_671-2338delinsAGAAT)
c.*1940_*1944delinsAGAAT (n.*1940_*1944delinsAGAAT)
c.787+1370_787+1374delinsAGAAT (n.787+1370_787+1374delinsAGAAT)
c.409+1370_409+1374delinsAGAAT (n.409+1370_409+1374delinsAGAAT)
c.412+1370_412+1374delinsAGAAT (n.412+1370_412+1374delinsAGAAT)
c.5-29423_5-29419delinsAGAAT (n.5-29423_5-29419delinsAGAAT)
c.-43-18853_-43-18849delinsAGAAT (n.-43-18853_-43-18849delinsAGAAT)
c.-99+31897_-99+31901delinsAGAAT (n.-99+31897_-99+31901delinsAGAAT)
n.2293_2297delinsAGAAT
n.2334_2338delinsAGAAT
17g.43093371_43093377delCA2695201347BRCA1n.2219_2225del
c.2155_2161del (p.Lys719LeufsTer15)
c.2029_2035del (p.Lys677LeufsTer15)
c.2152_2158del (p.Lys718LeufsTer15)
c.2077_2083del (p.Lys693LeufsTer15)
c.784+1368_784+1374del (n.784+1368_784+1374del)
c.646+1368_646+1374del (n.646+1368_646+1374del)
c.1267_1273del (p.Lys423LeufsTer15)
c.2032_2038del (p.Lys678LeufsTer15)
c.2014_2020del (p.Lys672LeufsTer15)
c.664+1368_664+1374del (n.664+1368_664+1374del)
c.706+1368_706+1374del (n.706+1368_706+1374del)
c.671-2344_671-2338del (n.671-2344_671-2338del)
c.*1938_*1944del (n.*1938_*1944del)
c.787+1368_787+1374del (n.787+1368_787+1374del)
c.409+1368_409+1374del (n.409+1368_409+1374del)
c.412+1368_412+1374del (n.412+1368_412+1374del)
c.5-29425_5-29419del (n.5-29425_5-29419del)
c.-43-18855_-43-18849del (n.-43-18855_-43-18849del)
c.-99+31895_-99+31901del (n.-99+31895_-99+31901del)
n.2291_2297del
n.2332_2338del
 ClinVar
17g.43093371T>ACA10597685BRCA1n.2224A>T
c.2160A>T (p.Glu720Asp)
c.2034A>T (p.Glu678Asp)
c.2157A>T (p.Glu719Asp)
c.2082A>T (p.Glu694Asp)
c.784+1373A>T (n.784+1373A>T)
c.646+1373A>T (n.646+1373A>T)
c.1272A>T (p.Glu424Asp)
c.2037A>T (p.Glu679Asp)
c.2019A>T (p.Glu673Asp)
c.664+1373A>T (n.664+1373A>T)
c.706+1373A>T (n.706+1373A>T)
c.671-2339A>T (n.671-2339A>T)
c.*1943A>T (n.*1943A>T)
c.787+1373A>T (n.787+1373A>T)
c.409+1373A>T (n.409+1373A>T)
c.412+1373A>T (n.412+1373A>T)
c.5-29420A>T (n.5-29420A>T)
c.-43-18850A>T (n.-43-18850A>T)
c.-99+31900A>T (n.-99+31900A>T)
n.2296A>T
n.2337A>T
 dbSNP
17g.43093371T>CCA500232897BRCA1n.2224A>G
c.2160A>G (p.Glu720=)
c.2034A>G (p.Glu678=)
c.2157A>G (p.Glu719=)
c.2082A>G (p.Glu694=)
c.784+1373A>G (n.784+1373A>G)
c.646+1373A>G (n.646+1373A>G)
c.1272A>G (p.Glu424=)
c.2037A>G (p.Glu679=)
c.2019A>G (p.Glu673=)
c.664+1373A>G (n.664+1373A>G)
c.706+1373A>G (n.706+1373A>G)
c.671-2339A>G (n.671-2339A>G)
c.*1943A>G (n.*1943A>G)
c.787+1373A>G (n.787+1373A>G)
c.409+1373A>G (n.409+1373A>G)
c.412+1373A>G (n.412+1373A>G)
c.5-29420A>G (n.5-29420A>G)
c.-43-18850A>G (n.-43-18850A>G)
c.-99+31900A>G (n.-99+31900A>G)
n.2296A>G
n.2337A>G
 ClinVar
17g.43093371T>GCA10597686BRCA1n.2224A>C
c.2160A>C (p.Glu720Asp)
c.2034A>C (p.Glu678Asp)
c.2157A>C (p.Glu719Asp)
c.2082A>C (p.Glu694Asp)
c.784+1373A>C (n.784+1373A>C)
c.646+1373A>C (n.646+1373A>C)
c.1272A>C (p.Glu424Asp)
c.2037A>C (p.Glu679Asp)
c.2019A>C (p.Glu673Asp)
c.664+1373A>C (n.664+1373A>C)
c.706+1373A>C (n.706+1373A>C)
c.671-2339A>C (n.671-2339A>C)
c.*1943A>C (n.*1943A>C)
c.787+1373A>C (n.787+1373A>C)
c.409+1373A>C (n.409+1373A>C)
c.412+1373A>C (n.412+1373A>C)
c.5-29420A>C (n.5-29420A>C)
c.-43-18850A>C (n.-43-18850A>C)
c.-99+31900A>C (n.-99+31900A>C)
n.2296A>C
n.2337A>C
 dbSNP
17g.43093372delCA915950105BRCA1n.2224del
c.2160del (p.Glu720AspfsTer16)
c.2034del (p.Glu678AspfsTer16)
c.2157del (p.Glu719AspfsTer16)
c.2082del (p.Glu694AspfsTer16)
c.784+1373del (n.784+1373del)
c.646+1373del (n.646+1373del)
c.1272del (p.Glu424AspfsTer16)
c.2037del (p.Glu679AspfsTer16)
c.2019del (p.Glu673AspfsTer16)
c.664+1373del (n.664+1373del)
c.706+1373del (n.706+1373del)
c.671-2339del (n.671-2339del)
c.*1943del (n.*1943del)
c.787+1373del (n.787+1373del)
c.409+1373del (n.409+1373del)
c.412+1373del (n.412+1373del)
c.5-29420del (n.5-29420del)
c.-43-18850del (n.-43-18850del)
c.-99+31900del (n.-99+31900del)
n.2296del
n.2337del
 ClinVar dbSNP
17g.43093371_43093373delinsTTCCA2260783894BRCA1n.2222_2224delinsGAA
c.2158_2160delinsGAA (p.Glu720=)
c.2032_2034delinsGAA (p.Glu678=)
c.2155_2157delinsGAA (p.Glu719=)
c.2080_2082delinsGAA (p.Glu694=)
c.784+1371_784+1373delinsGAA (n.784+1371_784+1373delinsGAA)
c.646+1371_646+1373delinsGAA (n.646+1371_646+1373delinsGAA)
c.1270_1272delinsGAA (p.Glu424=)
c.2035_2037delinsGAA (p.Glu679=)
c.2017_2019delinsGAA (p.Glu673=)
c.664+1371_664+1373delinsGAA (n.664+1371_664+1373delinsGAA)
c.706+1371_706+1373delinsGAA (n.706+1371_706+1373delinsGAA)
c.671-2341_671-2339delinsGAA (n.671-2341_671-2339delinsGAA)
c.*1941_*1943delinsGAA (n.*1941_*1943delinsGAA)
c.787+1371_787+1373delinsGAA (n.787+1371_787+1373delinsGAA)
c.409+1371_409+1373delinsGAA (n.409+1371_409+1373delinsGAA)
c.412+1371_412+1373delinsGAA (n.412+1371_412+1373delinsGAA)
c.5-29422_5-29420delinsGAA (n.5-29422_5-29420delinsGAA)
c.-43-18852_-43-18850delinsGAA (n.-43-18852_-43-18850delinsGAA)
c.-99+31898_-99+31900delinsGAA (n.-99+31898_-99+31900delinsGAA)
n.2294_2296delinsGAA
n.2335_2337delinsGAA
17g.43093373_43093376delCA10589884BRCA1n.2221_2224del
c.2157_2160del (p.Lys719AsnfsTer16)
c.2031_2034del (p.Lys677AsnfsTer16)
c.2154_2157del (p.Lys718AsnfsTer16)
c.2079_2082del (p.Lys693AsnfsTer16)
c.784+1370_784+1373del (n.784+1370_784+1373del)
c.646+1370_646+1373del (n.646+1370_646+1373del)
c.1269_1272del (p.Lys423AsnfsTer16)
c.2034_2037del (p.Lys678AsnfsTer16)
c.2016_2019del (p.Lys672AsnfsTer16)
c.664+1370_664+1373del (n.664+1370_664+1373del)
c.706+1370_706+1373del (n.706+1370_706+1373del)
c.671-2342_671-2339del (n.671-2342_671-2339del)
c.*1940_*1943del (n.*1940_*1943del)
c.787+1370_787+1373del (n.787+1370_787+1373del)
c.409+1370_409+1373del (n.409+1370_409+1373del)
c.412+1370_412+1373del (n.412+1370_412+1373del)
c.5-29423_5-29420del (n.5-29423_5-29420del)
c.-43-18853_-43-18850del (n.-43-18853_-43-18850del)
c.-99+31897_-99+31900del (n.-99+31897_-99+31900del)
n.2293_2296del
n.2334_2337del
 ClinVar dbSNP
17g.43093372T>ACA10597687BRCA1n.2223A>T
c.2159A>T (p.Glu720Val)
c.2033A>T (p.Glu678Val)
c.2156A>T (p.Glu719Val)
c.2081A>T (p.Glu694Val)
c.784+1372A>T (n.784+1372A>T)
c.646+1372A>T (n.646+1372A>T)
c.1271A>T (p.Glu424Val)
c.2036A>T (p.Glu679Val)
c.2018A>T (p.Glu673Val)
c.664+1372A>T (n.664+1372A>T)
c.706+1372A>T (n.706+1372A>T)
c.671-2340A>T (n.671-2340A>T)
c.*1942A>T (n.*1942A>T)
c.787+1372A>T (n.787+1372A>T)
c.409+1372A>T (n.409+1372A>T)
c.412+1372A>T (n.412+1372A>T)
c.5-29421A>T (n.5-29421A>T)
c.-43-18851A>T (n.-43-18851A>T)
c.-99+31899A>T (n.-99+31899A>T)
n.2295A>T
n.2336A>T
 dbSNP gnomAD v3 gnomAD v4
17g.43093372T>CCA10597688BRCA1n.2223A>G
c.2159A>G (p.Glu720Gly)
c.2033A>G (p.Glu678Gly)
c.2156A>G (p.Glu719Gly)
c.2081A>G (p.Glu694Gly)
c.784+1372A>G (n.784+1372A>G)
c.646+1372A>G (n.646+1372A>G)
c.1271A>G (p.Glu424Gly)
c.2036A>G (p.Glu679Gly)
c.2018A>G (p.Glu673Gly)
c.664+1372A>G (n.664+1372A>G)
c.706+1372A>G (n.706+1372A>G)
c.671-2340A>G (n.671-2340A>G)
c.*1942A>G (n.*1942A>G)
c.787+1372A>G (n.787+1372A>G)
c.409+1372A>G (n.409+1372A>G)
c.412+1372A>G (n.412+1372A>G)
c.5-29421A>G (n.5-29421A>G)
c.-43-18851A>G (n.-43-18851A>G)
c.-99+31899A>G (n.-99+31899A>G)
n.2295A>G
n.2336A>G
 ClinVar dbSNP
17g.43093372T>GCA10597689BRCA1n.2223A>C
c.2159A>C (p.Glu720Ala)
c.2033A>C (p.Glu678Ala)
c.2156A>C (p.Glu719Ala)
c.2081A>C (p.Glu694Ala)
c.784+1372A>C (n.784+1372A>C)
c.646+1372A>C (n.646+1372A>C)
c.1271A>C (p.Glu424Ala)
c.2036A>C (p.Glu679Ala)
c.2018A>C (p.Glu673Ala)
c.664+1372A>C (n.664+1372A>C)
c.706+1372A>C (n.706+1372A>C)
c.671-2340A>C (n.671-2340A>C)
c.*1942A>C (n.*1942A>C)
c.787+1372A>C (n.787+1372A>C)
c.409+1372A>C (n.409+1372A>C)
c.412+1372A>C (n.412+1372A>C)
c.5-29421A>C (n.5-29421A>C)
c.-43-18851A>C (n.-43-18851A>C)
c.-99+31899A>C (n.-99+31899A>C)
n.2295A>C
n.2336A>C
17g.43093372T=CA2260783895BRCA1n.2223A=
c.2159A= (p.Glu720=)
c.2033A= (p.Glu678=)
c.2156A= (p.Glu719=)
c.2081A= (p.Glu694=)
c.784+1372A= (n.784+1372A=)
c.646+1372A= (n.646+1372A=)
c.1271A= (p.Glu424=)
c.2036A= (p.Glu679=)
c.2018A= (p.Glu673=)
c.664+1372A= (n.664+1372A=)
c.706+1372A= (n.706+1372A=)
c.671-2340A= (n.671-2340A=)
c.*1942A= (n.*1942A=)
c.787+1372A= (n.787+1372A=)
c.409+1372A= (n.409+1372A=)
c.412+1372A= (n.412+1372A=)
c.5-29421A= (n.5-29421A=)
c.-43-18851A= (n.-43-18851A=)
c.-99+31899A= (n.-99+31899A=)
n.2295A=
n.2336A=
17g.43093373_43093374delCA913190560BRCA1n.2222_2223del
c.2158_2159del (p.Glu720IlefsTer5)
c.2032_2033del (p.Glu678IlefsTer5)
c.2155_2156del (p.Glu719IlefsTer5)
c.2080_2081del (p.Glu694IlefsTer5)
c.784+1371_784+1372del (n.784+1371_784+1372del)
c.646+1371_646+1372del (n.646+1371_646+1372del)
c.1270_1271del (p.Glu424IlefsTer5)
c.2035_2036del (p.Glu679IlefsTer5)
c.2017_2018del (p.Glu673IlefsTer5)
c.664+1371_664+1372del (n.664+1371_664+1372del)
c.706+1371_706+1372del (n.706+1371_706+1372del)
c.671-2341_671-2340del (n.671-2341_671-2340del)
c.*1941_*1942del (n.*1941_*1942del)
c.787+1371_787+1372del (n.787+1371_787+1372del)
c.409+1371_409+1372del (n.409+1371_409+1372del)
c.412+1371_412+1372del (n.412+1371_412+1372del)
c.5-29422_5-29421del (n.5-29422_5-29421del)
c.-43-18852_-43-18851del (n.-43-18852_-43-18851del)
c.-99+31898_-99+31899del (n.-99+31898_-99+31899del)
n.2294_2295del
n.2335_2336del
 ClinVar dbSNP
17g.43093373C>ACA001445BRCA1n.2222G>T
c.2158G>T (p.Glu720Ter)
c.2032G>T (p.Glu678Ter)
c.2155G>T (p.Glu719Ter)
c.2080G>T (p.Glu694Ter)
c.784+1371G>T (n.784+1371G>T)
c.646+1371G>T (n.646+1371G>T)
c.1270G>T (p.Glu424Ter)
c.2035G>T (p.Glu679Ter)
c.2017G>T (p.Glu673Ter)
c.664+1371G>T (n.664+1371G>T)
c.706+1371G>T (n.706+1371G>T)
c.671-2341G>T (n.671-2341G>T)
c.*1941G>T (n.*1941G>T)
c.787+1371G>T (n.787+1371G>T)
c.409+1371G>T (n.409+1371G>T)
c.412+1371G>T (n.412+1371G>T)
c.5-29422G>T (n.5-29422G>T)
c.-43-18852G>T (n.-43-18852G>T)
c.-99+31898G>T (n.-99+31898G>T)
n.2294G>T
n.2335G>T
 ClinVar dbSNP COSMIC COSMIC
17g.43093373C=CA2260783896BRCA1n.2222G=
c.2158G= (p.Glu720=)
c.2032G= (p.Glu678=)
c.2155G= (p.Glu719=)
c.2080G= (p.Glu694=)
c.784+1371G= (n.784+1371G=)
c.646+1371G= (n.646+1371G=)
c.1270G= (p.Glu424=)
c.2035G= (p.Glu679=)
c.2017G= (p.Glu673=)
c.664+1371G= (n.664+1371G=)
c.706+1371G= (n.706+1371G=)
c.671-2341G= (n.671-2341G=)
c.*1941G= (n.*1941G=)
c.787+1371G= (n.787+1371G=)
c.409+1371G= (n.409+1371G=)
c.412+1371G= (n.412+1371G=)
c.5-29422G= (n.5-29422G=)
c.-43-18852G= (n.-43-18852G=)
c.-99+31898G= (n.-99+31898G=)
n.2294G=
n.2335G=
17g.43093373C>GCA10597690BRCA1n.2222G>C
c.2158G>C (p.Glu720Gln)
c.2032G>C (p.Glu678Gln)
c.2155G>C (p.Glu719Gln)
c.2080G>C (p.Glu694Gln)
c.784+1371G>C (n.784+1371G>C)
c.646+1371G>C (n.646+1371G>C)
c.1270G>C (p.Glu424Gln)
c.2035G>C (p.Glu679Gln)
c.2017G>C (p.Glu673Gln)
c.664+1371G>C (n.664+1371G>C)
c.706+1371G>C (n.706+1371G>C)
c.671-2341G>C (n.671-2341G>C)
c.*1941G>C (n.*1941G>C)
c.787+1371G>C (n.787+1371G>C)
c.409+1371G>C (n.409+1371G>C)
c.412+1371G>C (n.412+1371G>C)
c.5-29422G>C (n.5-29422G>C)
c.-43-18852G>C (n.-43-18852G>C)
c.-99+31898G>C (n.-99+31898G>C)
n.2294G>C
n.2335G>C
 ClinVar dbSNP
17g.43093373C>TCA001444BRCA1n.2222G>A
c.2158G>A (p.Glu720Lys)
c.2032G>A (p.Glu678Lys)
c.2155G>A (p.Glu719Lys)
c.2080G>A (p.Glu694Lys)
c.784+1371G>A (n.784+1371G>A)
c.646+1371G>A (n.646+1371G>A)
c.1270G>A (p.Glu424Lys)
c.2035G>A (p.Glu679Lys)
c.2017G>A (p.Glu673Lys)
c.664+1371G>A (n.664+1371G>A)
c.706+1371G>A (n.706+1371G>A)
c.671-2341G>A (n.671-2341G>A)
c.*1941G>A (n.*1941G>A)
c.787+1371G>A (n.787+1371G>A)
c.409+1371G>A (n.409+1371G>A)
c.412+1371G>A (n.412+1371G>A)
c.5-29422G>A (n.5-29422G>A)
c.-43-18852G>A (n.-43-18852G>A)
c.-99+31898G>A (n.-99+31898G>A)
n.2294G>A
n.2335G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093374T>ACA10597691BRCA1n.2221A>T
c.2157A>T (p.Lys719Asn)
c.2031A>T (p.Lys677Asn)
c.2154A>T (p.Lys718Asn)
c.2079A>T (p.Lys693Asn)
c.784+1370A>T (n.784+1370A>T)
c.646+1370A>T (n.646+1370A>T)
c.1269A>T (p.Lys423Asn)
c.2034A>T (p.Lys678Asn)
c.2016A>T (p.Lys672Asn)
c.664+1370A>T (n.664+1370A>T)
c.706+1370A>T (n.706+1370A>T)
c.671-2342A>T (n.671-2342A>T)
c.*1940A>T (n.*1940A>T)
c.787+1370A>T (n.787+1370A>T)
c.409+1370A>T (n.409+1370A>T)
c.412+1370A>T (n.412+1370A>T)
c.5-29423A>T (n.5-29423A>T)
c.-43-18853A>T (n.-43-18853A>T)
c.-99+31897A>T (n.-99+31897A>T)
n.2293A>T
n.2334A>T
 dbSNP
17g.43093374T>CCA500232898BRCA1n.2221A>G
c.2157A>G (p.Lys719=)
c.2031A>G (p.Lys677=)
c.2154A>G (p.Lys718=)
c.2079A>G (p.Lys693=)
c.784+1370A>G (n.784+1370A>G)
c.646+1370A>G (n.646+1370A>G)
c.1269A>G (p.Lys423=)
c.2034A>G (p.Lys678=)
c.2016A>G (p.Lys672=)
c.664+1370A>G (n.664+1370A>G)
c.706+1370A>G (n.706+1370A>G)
c.671-2342A>G (n.671-2342A>G)
c.*1940A>G (n.*1940A>G)
c.787+1370A>G (n.787+1370A>G)
c.409+1370A>G (n.409+1370A>G)
c.412+1370A>G (n.412+1370A>G)
c.5-29423A>G (n.5-29423A>G)
c.-43-18853A>G (n.-43-18853A>G)
c.-99+31897A>G (n.-99+31897A>G)
n.2293A>G
n.2334A>G
 ClinVar dbSNP gnomAD v4
17g.43093374T>GCA10597692BRCA1n.2221A>C
c.2157A>C (p.Lys719Asn)
c.2031A>C (p.Lys677Asn)
c.2154A>C (p.Lys718Asn)
c.2079A>C (p.Lys693Asn)
c.784+1370A>C (n.784+1370A>C)
c.646+1370A>C (n.646+1370A>C)
c.1269A>C (p.Lys423Asn)
c.2034A>C (p.Lys678Asn)
c.2016A>C (p.Lys672Asn)
c.664+1370A>C (n.664+1370A>C)
c.706+1370A>C (n.706+1370A>C)
c.671-2342A>C (n.671-2342A>C)
c.*1940A>C (n.*1940A>C)
c.787+1370A>C (n.787+1370A>C)
c.409+1370A>C (n.409+1370A>C)
c.412+1370A>C (n.412+1370A>C)
c.5-29423A>C (n.5-29423A>C)
c.-43-18853A>C (n.-43-18853A>C)
c.-99+31897A>C (n.-99+31897A>C)
n.2293A>C
n.2334A>C
17g.43093374T=CA2260783897BRCA1n.2221A=
c.2157A= (p.Lys719=)
c.2031A= (p.Lys677=)
c.2154A= (p.Lys718=)
c.2079A= (p.Lys693=)
c.784+1370A= (n.784+1370A=)
c.646+1370A= (n.646+1370A=)
c.1269A= (p.Lys423=)
c.2034A= (p.Lys678=)
c.2016A= (p.Lys672=)
c.664+1370A= (n.664+1370A=)
c.706+1370A= (n.706+1370A=)
c.671-2342A= (n.671-2342A=)
c.*1940A= (n.*1940A=)
c.787+1370A= (n.787+1370A=)
c.409+1370A= (n.409+1370A=)
c.412+1370A= (n.412+1370A=)
c.5-29423A= (n.5-29423A=)
c.-43-18853A= (n.-43-18853A=)
c.-99+31897A= (n.-99+31897A=)
n.2293A=
n.2334A=
17g.43093376dupCA267881BRCA1n.2221dup
c.2157dup (p.Glu720ArgfsTer6)
c.2031dup (p.Glu678ArgfsTer6)
c.2154dup (p.Glu719ArgfsTer6)
c.2079dup (p.Glu694ArgfsTer6)
c.784+1370dup (n.784+1370dup)
c.646+1370dup (n.646+1370dup)
c.1269dup (p.Glu424ArgfsTer6)
c.2034dup (p.Glu679ArgfsTer6)
c.2016dup (p.Glu673ArgfsTer6)
c.664+1370dup (n.664+1370dup)
c.706+1370dup (n.706+1370dup)
c.671-2342dup (n.671-2342dup)
c.*1940dup (n.*1940dup)
c.787+1370dup (n.787+1370dup)
c.409+1370dup (n.409+1370dup)
c.412+1370dup (n.412+1370dup)
c.5-29423dup (n.5-29423dup)
c.-43-18853dup (n.-43-18853dup)
c.-99+31897dup (n.-99+31897dup)
n.2293dup
n.2334dup
 ClinVar dbSNP
17g.43093376delCA2573154054BRCA1n.2221del
c.2157del (p.Glu720AsnfsTer16)
c.2031del (p.Glu678AsnfsTer16)
c.2154del (p.Glu719AsnfsTer16)
c.2079del (p.Glu694AsnfsTer16)
c.784+1370del (n.784+1370del)
c.646+1370del (n.646+1370del)
c.1269del (p.Glu424AsnfsTer16)
c.2034del (p.Glu679AsnfsTer16)
c.2016del (p.Glu673AsnfsTer16)
c.664+1370del (n.664+1370del)
c.706+1370del (n.706+1370del)
c.671-2342del (n.671-2342del)
c.*1940del (n.*1940del)
c.787+1370del (n.787+1370del)
c.409+1370del (n.409+1370del)
c.412+1370del (n.412+1370del)
c.5-29423del (n.5-29423del)
c.-43-18853del (n.-43-18853del)
c.-99+31897del (n.-99+31897del)
n.2293del
n.2334del
 ClinVar dbSNP
17g.43093375T>ACA10597693BRCA1n.2220A>T
c.2156A>T (p.Lys719Ile)
c.2030A>T (p.Lys677Ile)
c.2153A>T (p.Lys718Ile)
c.2078A>T (p.Lys693Ile)
c.784+1369A>T (n.784+1369A>T)
c.646+1369A>T (n.646+1369A>T)
c.1268A>T (p.Lys423Ile)
c.2033A>T (p.Lys678Ile)
c.2015A>T (p.Lys672Ile)
c.664+1369A>T (n.664+1369A>T)
c.706+1369A>T (n.706+1369A>T)
c.671-2343A>T (n.671-2343A>T)
c.*1939A>T (n.*1939A>T)
c.787+1369A>T (n.787+1369A>T)
c.409+1369A>T (n.409+1369A>T)
c.412+1369A>T (n.412+1369A>T)
c.5-29424A>T (n.5-29424A>T)
c.-43-18854A>T (n.-43-18854A>T)
c.-99+31896A>T (n.-99+31896A>T)
n.2292A>T
n.2333A>T
 dbSNP
17g.43093375T>CCA10597694BRCA1n.2220A>G
c.2156A>G (p.Lys719Arg)
c.2030A>G (p.Lys677Arg)
c.2153A>G (p.Lys718Arg)
c.2078A>G (p.Lys693Arg)
c.784+1369A>G (n.784+1369A>G)
c.646+1369A>G (n.646+1369A>G)
c.1268A>G (p.Lys423Arg)
c.2033A>G (p.Lys678Arg)
c.2015A>G (p.Lys672Arg)
c.664+1369A>G (n.664+1369A>G)
c.706+1369A>G (n.706+1369A>G)
c.671-2343A>G (n.671-2343A>G)
c.*1939A>G (n.*1939A>G)
c.787+1369A>G (n.787+1369A>G)
c.409+1369A>G (n.409+1369A>G)
c.412+1369A>G (n.412+1369A>G)
c.5-29424A>G (n.5-29424A>G)
c.-43-18854A>G (n.-43-18854A>G)
c.-99+31896A>G (n.-99+31896A>G)
n.2292A>G
n.2333A>G
 dbSNP
17g.43093375T>GCA10580632BRCA1n.2220A>C
c.2156A>C (p.Lys719Thr)
c.2030A>C (p.Lys677Thr)
c.2153A>C (p.Lys718Thr)
c.2078A>C (p.Lys693Thr)
c.784+1369A>C (n.784+1369A>C)
c.646+1369A>C (n.646+1369A>C)
c.1268A>C (p.Lys423Thr)
c.2033A>C (p.Lys678Thr)
c.2015A>C (p.Lys672Thr)
c.664+1369A>C (n.664+1369A>C)
c.706+1369A>C (n.706+1369A>C)
c.671-2343A>C (n.671-2343A>C)
c.*1939A>C (n.*1939A>C)
c.787+1369A>C (n.787+1369A>C)
c.409+1369A>C (n.409+1369A>C)
c.412+1369A>C (n.412+1369A>C)
c.5-29424A>C (n.5-29424A>C)
c.-43-18854A>C (n.-43-18854A>C)
c.-99+31896A>C (n.-99+31896A>C)
n.2292A>C
n.2333A>C
 ClinVar dbSNP
17g.43093375T=CA2260783898BRCA1n.2220A=
c.2156A= (p.Lys719=)
c.2030A= (p.Lys677=)
c.2153A= (p.Lys718=)
c.2078A= (p.Lys693=)
c.784+1369A= (n.784+1369A=)
c.646+1369A= (n.646+1369A=)
c.1268A= (p.Lys423=)
c.2033A= (p.Lys678=)
c.2015A= (p.Lys672=)
c.664+1369A= (n.664+1369A=)
c.706+1369A= (n.706+1369A=)
c.671-2343A= (n.671-2343A=)
c.*1939A= (n.*1939A=)
c.787+1369A= (n.787+1369A=)
c.409+1369A= (n.409+1369A=)
c.412+1369A= (n.412+1369A=)
c.5-29424A= (n.5-29424A=)
c.-43-18854A= (n.-43-18854A=)
c.-99+31896A= (n.-99+31896A=)
n.2292A=
n.2333A=
17g.43093375_43093388delinsTTAAGTTCACTGGTCA2260783899BRCA1n.2207_2220delinsACCAGTGAACTTAA
c.2143_2156delinsACCAGTGAACTTAA (p.Thr715=)
c.2017_2030delinsACCAGTGAACTTAA (p.Thr673=)
c.2140_2153delinsACCAGTGAACTTAA (p.Thr714=)
c.2065_2078delinsACCAGTGAACTTAA (p.Thr689=)
c.784+1356_784+1369delinsACCAGTGAACTTAA (n.784+1356_784+1369delinsACCAGTGAACTTAA)
c.646+1356_646+1369delinsACCAGTGAACTTAA (n.646+1356_646+1369delinsACCAGTGAACTTAA)
c.1255_1268delinsACCAGTGAACTTAA (p.Thr419=)
c.2020_2033delinsACCAGTGAACTTAA (p.Thr674=)
c.2002_2015delinsACCAGTGAACTTAA (p.Thr668=)
c.664+1356_664+1369delinsACCAGTGAACTTAA (n.664+1356_664+1369delinsACCAGTGAACTTAA)
c.706+1356_706+1369delinsACCAGTGAACTTAA (n.706+1356_706+1369delinsACCAGTGAACTTAA)
c.671-2356_671-2343delinsACCAGTGAACTTAA (n.671-2356_671-2343delinsACCAGTGAACTTAA)
c.*1926_*1939delinsACCAGTGAACTTAA (n.*1926_*1939delinsACCAGTGAACTTAA)
c.787+1356_787+1369delinsACCAGTGAACTTAA (n.787+1356_787+1369delinsACCAGTGAACTTAA)
c.409+1356_409+1369delinsACCAGTGAACTTAA (n.409+1356_409+1369delinsACCAGTGAACTTAA)
c.412+1356_412+1369delinsACCAGTGAACTTAA (n.412+1356_412+1369delinsACCAGTGAACTTAA)
c.5-29437_5-29424delinsACCAGTGAACTTAA (n.5-29437_5-29424delinsACCAGTGAACTTAA)
c.-43-18867_-43-18854delinsACCAGTGAACTTAA (n.-43-18867_-43-18854delinsACCAGTGAACTTAA)
c.-99+31883_-99+31896delinsACCAGTGAACTTAA (n.-99+31883_-99+31896delinsACCAGTGAACTTAA)
n.2279_2292delinsACCAGTGAACTTAA
n.2320_2333delinsACCAGTGAACTTAA
17g.43093376T>ACA001443BRCA1n.2219A>T
c.2155A>T (p.Lys719Ter)
c.2029A>T (p.Lys677Ter)
c.2152A>T (p.Lys718Ter)
c.2077A>T (p.Lys693Ter)
c.784+1368A>T (n.784+1368A>T)
c.646+1368A>T (n.646+1368A>T)
c.1267A>T (p.Lys423Ter)
c.2032A>T (p.Lys678Ter)
c.2014A>T (p.Lys672Ter)
c.664+1368A>T (n.664+1368A>T)
c.706+1368A>T (n.706+1368A>T)
c.671-2344A>T (n.671-2344A>T)
c.*1938A>T (n.*1938A>T)
c.787+1368A>T (n.787+1368A>T)
c.409+1368A>T (n.409+1368A>T)
c.412+1368A>T (n.412+1368A>T)
c.5-29425A>T (n.5-29425A>T)
c.-43-18855A>T (n.-43-18855A>T)
c.-99+31895A>T (n.-99+31895A>T)
n.2291A>T
n.2332A>T
 ClinVar dbSNP
17g.43093376T>CCA001442BRCA1n.2219A>G
c.2155A>G (p.Lys719Glu)
c.2029A>G (p.Lys677Glu)
c.2152A>G (p.Lys718Glu)
c.2077A>G (p.Lys693Glu)
c.784+1368A>G (n.784+1368A>G)
c.646+1368A>G (n.646+1368A>G)
c.1267A>G (p.Lys423Glu)
c.2032A>G (p.Lys678Glu)
c.2014A>G (p.Lys672Glu)
c.664+1368A>G (n.664+1368A>G)
c.706+1368A>G (n.706+1368A>G)
c.671-2344A>G (n.671-2344A>G)
c.*1938A>G (n.*1938A>G)
c.787+1368A>G (n.787+1368A>G)
c.409+1368A>G (n.409+1368A>G)
c.412+1368A>G (n.412+1368A>G)
c.5-29425A>G (n.5-29425A>G)
c.-43-18855A>G (n.-43-18855A>G)
c.-99+31895A>G (n.-99+31895A>G)
n.2291A>G
n.2332A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093376T>GCA10597695BRCA1n.2219A>C
c.2155A>C (p.Lys719Gln)
c.2029A>C (p.Lys677Gln)
c.2152A>C (p.Lys718Gln)
c.2077A>C (p.Lys693Gln)
c.784+1368A>C (n.784+1368A>C)
c.646+1368A>C (n.646+1368A>C)
c.1267A>C (p.Lys423Gln)
c.2032A>C (p.Lys678Gln)
c.2014A>C (p.Lys672Gln)
c.664+1368A>C (n.664+1368A>C)
c.706+1368A>C (n.706+1368A>C)
c.671-2344A>C (n.671-2344A>C)
c.*1938A>C (n.*1938A>C)
c.787+1368A>C (n.787+1368A>C)
c.409+1368A>C (n.409+1368A>C)
c.412+1368A>C (n.412+1368A>C)
c.5-29425A>C (n.5-29425A>C)
c.-43-18855A>C (n.-43-18855A>C)
c.-99+31895A>C (n.-99+31895A>C)
n.2291A>C
n.2332A>C
17g.43093376T=CA2260783900BRCA1n.2219A=
c.2155A= (p.Lys719=)
c.2029A= (p.Lys677=)
c.2152A= (p.Lys718=)
c.2077A= (p.Lys693=)
c.784+1368A= (n.784+1368A=)
c.646+1368A= (n.646+1368A=)
c.1267A= (p.Lys423=)
c.2032A= (p.Lys678=)
c.2014A= (p.Lys672=)
c.664+1368A= (n.664+1368A=)
c.706+1368A= (n.706+1368A=)
c.671-2344A= (n.671-2344A=)
c.*1938A= (n.*1938A=)
c.787+1368A= (n.787+1368A=)
c.409+1368A= (n.409+1368A=)
c.412+1368A= (n.412+1368A=)
c.5-29425A= (n.5-29425A=)
c.-43-18855A= (n.-43-18855A=)
c.-99+31895A= (n.-99+31895A=)
n.2291A=
n.2332A=
17g.43093376_43093388delinsAAAGACA891843733BRCA1n.2207_2219delinsTCTTT
c.2143_2155delinsTCTTT (p.Thr715SerfsTer8)
c.2017_2029delinsTCTTT (p.Thr673SerfsTer8)
c.2140_2152delinsTCTTT (p.Thr714SerfsTer8)
c.2065_2077delinsTCTTT (p.Thr689SerfsTer8)
c.784+1356_784+1368delinsTCTTT (n.784+1356_784+1368delinsTCTTT)
c.646+1356_646+1368delinsTCTTT (n.646+1356_646+1368delinsTCTTT)
c.1255_1267delinsTCTTT (p.Thr419SerfsTer8)
c.2020_2032delinsTCTTT (p.Thr674SerfsTer8)
c.2002_2014delinsTCTTT (p.Thr668SerfsTer8)
c.664+1356_664+1368delinsTCTTT (n.664+1356_664+1368delinsTCTTT)
c.706+1356_706+1368delinsTCTTT (n.706+1356_706+1368delinsTCTTT)
c.671-2356_671-2344delinsTCTTT (n.671-2356_671-2344delinsTCTTT)
c.*1926_*1938delinsTCTTT (n.*1926_*1938delinsTCTTT)
c.787+1356_787+1368delinsTCTTT (n.787+1356_787+1368delinsTCTTT)
c.409+1356_409+1368delinsTCTTT (n.409+1356_409+1368delinsTCTTT)
c.412+1356_412+1368delinsTCTTT (n.412+1356_412+1368delinsTCTTT)
c.5-29437_5-29425delinsTCTTT (n.5-29437_5-29425delinsTCTTT)
c.-43-18867_-43-18855delinsTCTTT (n.-43-18867_-43-18855delinsTCTTT)
c.-99+31883_-99+31895delinsTCTTT (n.-99+31883_-99+31895delinsTCTTT)
n.2279_2291delinsTCTTT
n.2320_2332delinsTCTTT
 ClinVar dbSNP
17g.43093377A=CA2260783901BRCA1n.2218T=
c.2154T= (p.Leu718=)
c.2028T= (p.Leu676=)
c.2151T= (p.Leu717=)
c.2076T= (p.Leu692=)
c.784+1367T= (n.784+1367T=)
c.646+1367T= (n.646+1367T=)
c.1266T= (p.Leu422=)
c.2031T= (p.Leu677=)
c.2013T= (p.Leu671=)
c.664+1367T= (n.664+1367T=)
c.706+1367T= (n.706+1367T=)
c.671-2345T= (n.671-2345T=)
c.*1937T= (n.*1937T=)
c.787+1367T= (n.787+1367T=)
c.409+1367T= (n.409+1367T=)
c.412+1367T= (n.412+1367T=)
c.5-29426T= (n.5-29426T=)
c.-43-18856T= (n.-43-18856T=)
c.-99+31894T= (n.-99+31894T=)
n.2290T=
n.2331T=

Number of alleles fetched