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.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.43093425T>ACA10597791BRCA1n.2170A>T
c.2106A>T (p.Leu702Phe)
c.1980A>T (p.Leu660Phe)
c.2103A>T (p.Leu701Phe)
c.2028A>T (p.Leu676Phe)
c.784+1319A>T (n.784+1319A>T)
c.646+1319A>T (n.646+1319A>T)
c.1218A>T (p.Leu406Phe)
c.1983A>T (p.Leu661Phe)
c.1965A>T (p.Leu655Phe)
c.664+1319A>T (n.664+1319A>T)
c.706+1319A>T (n.706+1319A>T)
c.671-2393A>T (n.671-2393A>T)
c.*1889A>T (n.*1889A>T)
c.787+1319A>T (n.787+1319A>T)
c.409+1319A>T (n.409+1319A>T)
c.412+1319A>T (n.412+1319A>T)
c.5-29474A>T (n.5-29474A>T)
c.-43-18904A>T (n.-43-18904A>T)
c.-99+31846A>T (n.-99+31846A>T)
n.2242A>T
n.2283A>T
17g.43093425T>CCA500232928BRCA1n.2170A>G
c.2106A>G (p.Leu702=)
c.1980A>G (p.Leu660=)
c.2103A>G (p.Leu701=)
c.2028A>G (p.Leu676=)
c.784+1319A>G (n.784+1319A>G)
c.646+1319A>G (n.646+1319A>G)
c.1218A>G (p.Leu406=)
c.1983A>G (p.Leu661=)
c.1965A>G (p.Leu655=)
c.664+1319A>G (n.664+1319A>G)
c.706+1319A>G (n.706+1319A>G)
c.671-2393A>G (n.671-2393A>G)
c.*1889A>G (n.*1889A>G)
c.787+1319A>G (n.787+1319A>G)
c.409+1319A>G (n.409+1319A>G)
c.412+1319A>G (n.412+1319A>G)
c.5-29474A>G (n.5-29474A>G)
c.-43-18904A>G (n.-43-18904A>G)
c.-99+31846A>G (n.-99+31846A>G)
n.2242A>G
n.2283A>G
17g.43093425T>GCA10597792BRCA1n.2170A>C
c.2106A>C (p.Leu702Phe)
c.1980A>C (p.Leu660Phe)
c.2103A>C (p.Leu701Phe)
c.2028A>C (p.Leu676Phe)
c.784+1319A>C (n.784+1319A>C)
c.646+1319A>C (n.646+1319A>C)
c.1218A>C (p.Leu406Phe)
c.1983A>C (p.Leu661Phe)
c.1965A>C (p.Leu655Phe)
c.664+1319A>C (n.664+1319A>C)
c.706+1319A>C (n.706+1319A>C)
c.671-2393A>C (n.671-2393A>C)
c.*1889A>C (n.*1889A>C)
c.787+1319A>C (n.787+1319A>C)
c.409+1319A>C (n.409+1319A>C)
c.412+1319A>C (n.412+1319A>C)
c.5-29474A>C (n.5-29474A>C)
c.-43-18904A>C (n.-43-18904A>C)
c.-99+31846A>C (n.-99+31846A>C)
n.2242A>C
n.2283A>C
17g.43093425_43093426delinsTACA2260783952BRCA1n.2169_2170delinsTA
c.2105_2106delinsTA (p.Leu702=)
c.1979_1980delinsTA (p.Leu660=)
c.2102_2103delinsTA (p.Leu701=)
c.2027_2028delinsTA (p.Leu676=)
c.784+1318_784+1319delinsTA (n.784+1318_784+1319delinsTA)
c.646+1318_646+1319delinsTA (n.646+1318_646+1319delinsTA)
c.1217_1218delinsTA (p.Leu406=)
c.1982_1983delinsTA (p.Leu661=)
c.1964_1965delinsTA (p.Leu655=)
c.664+1318_664+1319delinsTA (n.664+1318_664+1319delinsTA)
c.706+1318_706+1319delinsTA (n.706+1318_706+1319delinsTA)
c.671-2394_671-2393delinsTA (n.671-2394_671-2393delinsTA)
c.*1888_*1889delinsTA (n.*1888_*1889delinsTA)
c.787+1318_787+1319delinsTA (n.787+1318_787+1319delinsTA)
c.409+1318_409+1319delinsTA (n.409+1318_409+1319delinsTA)
c.412+1318_412+1319delinsTA (n.412+1318_412+1319delinsTA)
c.5-29475_5-29474delinsTA (n.5-29475_5-29474delinsTA)
c.-43-18905_-43-18904delinsTA (n.-43-18905_-43-18904delinsTA)
c.-99+31845_-99+31846delinsTA (n.-99+31845_-99+31846delinsTA)
n.2241_2242delinsTA
n.2282_2283delinsTA
17g.43093426A=CA2260783953BRCA1n.2169T=
c.2105T= (p.Leu702=)
c.1979T= (p.Leu660=)
c.2102T= (p.Leu701=)
c.2027T= (p.Leu676=)
c.784+1318T= (n.784+1318T=)
c.646+1318T= (n.646+1318T=)
c.1217T= (p.Leu406=)
c.1982T= (p.Leu661=)
c.1964T= (p.Leu655=)
c.664+1318T= (n.664+1318T=)
c.706+1318T= (n.706+1318T=)
c.671-2394T= (n.671-2394T=)
c.*1888T= (n.*1888T=)
c.787+1318T= (n.787+1318T=)
c.409+1318T= (n.409+1318T=)
c.412+1318T= (n.412+1318T=)
c.5-29475T= (n.5-29475T=)
c.-43-18905T= (n.-43-18905T=)
c.-99+31845T= (n.-99+31845T=)
n.2241T=
n.2282T=
17g.43093426A>CCA001394BRCA1n.2169T>G
c.2105T>G (p.Leu702Ter)
c.1979T>G (p.Leu660Ter)
c.2102T>G (p.Leu701Ter)
c.2027T>G (p.Leu676Ter)
c.784+1318T>G (n.784+1318T>G)
c.646+1318T>G (n.646+1318T>G)
c.1217T>G (p.Leu406Ter)
c.1982T>G (p.Leu661Ter)
c.1964T>G (p.Leu655Ter)
c.664+1318T>G (n.664+1318T>G)
c.706+1318T>G (n.706+1318T>G)
c.671-2394T>G (n.671-2394T>G)
c.*1888T>G (n.*1888T>G)
c.787+1318T>G (n.787+1318T>G)
c.409+1318T>G (n.409+1318T>G)
c.412+1318T>G (n.412+1318T>G)
c.5-29475T>G (n.5-29475T>G)
c.-43-18905T>G (n.-43-18905T>G)
c.-99+31845T>G (n.-99+31845T>G)
n.2241T>G
n.2282T>G
 ClinVar dbSNP
17g.43093426A>GCA10597793BRCA1n.2169T>C
c.2105T>C (p.Leu702Ser)
c.1979T>C (p.Leu660Ser)
c.2102T>C (p.Leu701Ser)
c.2027T>C (p.Leu676Ser)
c.784+1318T>C (n.784+1318T>C)
c.646+1318T>C (n.646+1318T>C)
c.1217T>C (p.Leu406Ser)
c.1982T>C (p.Leu661Ser)
c.1964T>C (p.Leu655Ser)
c.664+1318T>C (n.664+1318T>C)
c.706+1318T>C (n.706+1318T>C)
c.671-2394T>C (n.671-2394T>C)
c.*1888T>C (n.*1888T>C)
c.787+1318T>C (n.787+1318T>C)
c.409+1318T>C (n.409+1318T>C)
c.412+1318T>C (n.412+1318T>C)
c.5-29475T>C (n.5-29475T>C)
c.-43-18905T>C (n.-43-18905T>C)
c.-99+31845T>C (n.-99+31845T>C)
n.2241T>C
n.2282T>C
17g.43093426A>TCA10597794BRCA1n.2169T>A
c.2105T>A (p.Leu702Ter)
c.1979T>A (p.Leu660Ter)
c.2102T>A (p.Leu701Ter)
c.2027T>A (p.Leu676Ter)
c.784+1318T>A (n.784+1318T>A)
c.646+1318T>A (n.646+1318T>A)
c.1217T>A (p.Leu406Ter)
c.1982T>A (p.Leu661Ter)
c.1964T>A (p.Leu655Ter)
c.664+1318T>A (n.664+1318T>A)
c.706+1318T>A (n.706+1318T>A)
c.671-2394T>A (n.671-2394T>A)
c.*1888T>A (n.*1888T>A)
c.787+1318T>A (n.787+1318T>A)
c.409+1318T>A (n.409+1318T>A)
c.412+1318T>A (n.412+1318T>A)
c.5-29475T>A (n.5-29475T>A)
c.-43-18905T>A (n.-43-18905T>A)
c.-99+31845T>A (n.-99+31845T>A)
n.2241T>A
n.2282T>A
 dbSNP
17g.43093427dupCA001393BRCA1n.2169dup
c.2105dup (p.Leu702PhefsTer10)
c.1979dup (p.Leu660PhefsTer10)
c.2102dup (p.Leu701PhefsTer10)
c.2027dup (p.Leu676PhefsTer10)
c.784+1318dup (n.784+1318dup)
c.646+1318dup (n.646+1318dup)
c.1217dup (p.Leu406PhefsTer10)
c.1982dup (p.Leu661PhefsTer10)
c.1964dup (p.Leu655PhefsTer10)
c.664+1318dup (n.664+1318dup)
c.706+1318dup (n.706+1318dup)
c.671-2394dup (n.671-2394dup)
c.*1888dup (n.*1888dup)
c.787+1318dup (n.787+1318dup)
c.409+1318dup (n.409+1318dup)
c.412+1318dup (n.412+1318dup)
c.5-29475dup (n.5-29475dup)
c.-43-18905dup (n.-43-18905dup)
c.-99+31845dup (n.-99+31845dup)
n.2241dup
n.2282dup
 ClinVar dbSNP
17g.43093427delCA10589893BRCA1n.2169del
c.2105del (p.Leu702Ter)
c.1979del (p.Leu660Ter)
c.2102del (p.Leu701Ter)
c.2027del (p.Leu676Ter)
c.784+1318del (n.784+1318del)
c.646+1318del (n.646+1318del)
c.1217del (p.Leu406Ter)
c.1982del (p.Leu661Ter)
c.1964del (p.Leu655Ter)
c.664+1318del (n.664+1318del)
c.706+1318del (n.706+1318del)
c.671-2394del (n.671-2394del)
c.*1888del (n.*1888del)
c.787+1318del (n.787+1318del)
c.409+1318del (n.409+1318del)
c.412+1318del (n.412+1318del)
c.5-29475del (n.5-29475del)
c.-43-18905del (n.-43-18905del)
c.-99+31845del (n.-99+31845del)
n.2241del
n.2282del
 ClinVar dbSNP
17g.43093427A>CCA10597795BRCA1n.2168T>G
c.2104T>G (p.Leu702Val)
c.1978T>G (p.Leu660Val)
c.2101T>G (p.Leu701Val)
c.2026T>G (p.Leu676Val)
c.784+1317T>G (n.784+1317T>G)
c.646+1317T>G (n.646+1317T>G)
c.1216T>G (p.Leu406Val)
c.1981T>G (p.Leu661Val)
c.1963T>G (p.Leu655Val)
c.664+1317T>G (n.664+1317T>G)
c.706+1317T>G (n.706+1317T>G)
c.671-2395T>G (n.671-2395T>G)
c.*1887T>G (n.*1887T>G)
c.787+1317T>G (n.787+1317T>G)
c.409+1317T>G (n.409+1317T>G)
c.412+1317T>G (n.412+1317T>G)
c.5-29476T>G (n.5-29476T>G)
c.-43-18906T>G (n.-43-18906T>G)
c.-99+31844T>G (n.-99+31844T>G)
n.2240T>G
n.2281T>G
 dbSNP
17g.43093427A>GCA500232929BRCA1n.2168T>C
c.2104T>C (p.Leu702=)
c.1978T>C (p.Leu660=)
c.2101T>C (p.Leu701=)
c.2026T>C (p.Leu676=)
c.784+1317T>C (n.784+1317T>C)
c.646+1317T>C (n.646+1317T>C)
c.1216T>C (p.Leu406=)
c.1981T>C (p.Leu661=)
c.1963T>C (p.Leu655=)
c.664+1317T>C (n.664+1317T>C)
c.706+1317T>C (n.706+1317T>C)
c.671-2395T>C (n.671-2395T>C)
c.*1887T>C (n.*1887T>C)
c.787+1317T>C (n.787+1317T>C)
c.409+1317T>C (n.409+1317T>C)
c.412+1317T>C (n.412+1317T>C)
c.5-29476T>C (n.5-29476T>C)
c.-43-18906T>C (n.-43-18906T>C)
c.-99+31844T>C (n.-99+31844T>C)
n.2240T>C
n.2281T>C
 ClinVar dbSNP
17g.43093427A>TCA10597796BRCA1n.2168T>A
c.2104T>A (p.Leu702Ile)
c.1978T>A (p.Leu660Ile)
c.2101T>A (p.Leu701Ile)
c.2026T>A (p.Leu676Ile)
c.784+1317T>A (n.784+1317T>A)
c.646+1317T>A (n.646+1317T>A)
c.1216T>A (p.Leu406Ile)
c.1981T>A (p.Leu661Ile)
c.1963T>A (p.Leu655Ile)
c.664+1317T>A (n.664+1317T>A)
c.706+1317T>A (n.706+1317T>A)
c.671-2395T>A (n.671-2395T>A)
c.*1887T>A (n.*1887T>A)
c.787+1317T>A (n.787+1317T>A)
c.409+1317T>A (n.409+1317T>A)
c.412+1317T>A (n.412+1317T>A)
c.5-29476T>A (n.5-29476T>A)
c.-43-18906T>A (n.-43-18906T>A)
c.-99+31844T>A (n.-99+31844T>A)
n.2240T>A
n.2281T>A
 dbSNP
17g.43093428C>ACA10597797BRCA1n.2167G>T
c.2103G>T (p.Lys701Asn)
c.1977G>T (p.Lys659Asn)
c.2100G>T (p.Lys700Asn)
c.2025G>T (p.Lys675Asn)
c.784+1316G>T (n.784+1316G>T)
c.646+1316G>T (n.646+1316G>T)
c.1215G>T (p.Lys405Asn)
c.1980G>T (p.Lys660Asn)
c.1962G>T (p.Lys654Asn)
c.664+1316G>T (n.664+1316G>T)
c.706+1316G>T (n.706+1316G>T)
c.671-2396G>T (n.671-2396G>T)
c.*1886G>T (n.*1886G>T)
c.787+1316G>T (n.787+1316G>T)
c.409+1316G>T (n.409+1316G>T)
c.412+1316G>T (n.412+1316G>T)
c.5-29477G>T (n.5-29477G>T)
c.-43-18907G>T (n.-43-18907G>T)
c.-99+31843G>T (n.-99+31843G>T)
n.2239G>T
n.2280G>T
 dbSNP
17g.43093428C=CA2260783954BRCA1n.2167G=
c.2103G= (p.Lys701=)
c.1977G= (p.Lys659=)
c.2100G= (p.Lys700=)
c.2025G= (p.Lys675=)
c.784+1316G= (n.784+1316G=)
c.646+1316G= (n.646+1316G=)
c.1215G= (p.Lys405=)
c.1980G= (p.Lys660=)
c.1962G= (p.Lys654=)
c.664+1316G= (n.664+1316G=)
c.706+1316G= (n.706+1316G=)
c.671-2396G= (n.671-2396G=)
c.*1886G= (n.*1886G=)
c.787+1316G= (n.787+1316G=)
c.409+1316G= (n.409+1316G=)
c.412+1316G= (n.412+1316G=)
c.5-29477G= (n.5-29477G=)
c.-43-18907G= (n.-43-18907G=)
c.-99+31843G= (n.-99+31843G=)
n.2239G=
n.2280G=
17g.43093428C>GCA10597798BRCA1n.2167G>C
c.2103G>C (p.Lys701Asn)
c.1977G>C (p.Lys659Asn)
c.2100G>C (p.Lys700Asn)
c.2025G>C (p.Lys675Asn)
c.784+1316G>C (n.784+1316G>C)
c.646+1316G>C (n.646+1316G>C)
c.1215G>C (p.Lys405Asn)
c.1980G>C (p.Lys660Asn)
c.1962G>C (p.Lys654Asn)
c.664+1316G>C (n.664+1316G>C)
c.706+1316G>C (n.706+1316G>C)
c.671-2396G>C (n.671-2396G>C)
c.*1886G>C (n.*1886G>C)
c.787+1316G>C (n.787+1316G>C)
c.409+1316G>C (n.409+1316G>C)
c.412+1316G>C (n.412+1316G>C)
c.5-29477G>C (n.5-29477G>C)
c.-43-18907G>C (n.-43-18907G>C)
c.-99+31843G>C (n.-99+31843G>C)
n.2239G>C
n.2280G>C
 dbSNP
17g.43093428C>TCA001392BRCA1n.2167G>A
c.2103G>A (p.Lys701=)
c.1977G>A (p.Lys659=)
c.2100G>A (p.Lys700=)
c.2025G>A (p.Lys675=)
c.784+1316G>A (n.784+1316G>A)
c.646+1316G>A (n.646+1316G>A)
c.1215G>A (p.Lys405=)
c.1980G>A (p.Lys660=)
c.1962G>A (p.Lys654=)
c.664+1316G>A (n.664+1316G>A)
c.706+1316G>A (n.706+1316G>A)
c.671-2396G>A (n.671-2396G>A)
c.*1886G>A (n.*1886G>A)
c.787+1316G>A (n.787+1316G>A)
c.409+1316G>A (n.409+1316G>A)
c.412+1316G>A (n.412+1316G>A)
c.5-29477G>A (n.5-29477G>A)
c.-43-18907G>A (n.-43-18907G>A)
c.-99+31843G>A (n.-99+31843G>A)
n.2239G>A
n.2280G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43093428_43093429delCA2499224524BRCA1n.2166_2167del
c.2102_2103del (p.Lys701IlefsTer10)
c.1976_1977del (p.Lys659IlefsTer10)
c.2099_2100del (p.Lys700IlefsTer10)
c.2024_2025del (p.Lys675IlefsTer10)
c.784+1315_784+1316del (n.784+1315_784+1316del)
c.646+1315_646+1316del (n.646+1315_646+1316del)
c.1214_1215del (p.Lys405IlefsTer10)
c.1979_1980del (p.Lys660IlefsTer10)
c.1961_1962del (p.Lys654IlefsTer10)
c.664+1315_664+1316del (n.664+1315_664+1316del)
c.706+1315_706+1316del (n.706+1315_706+1316del)
c.671-2397_671-2396del (n.671-2397_671-2396del)
c.*1885_*1886del (n.*1885_*1886del)
c.787+1315_787+1316del (n.787+1315_787+1316del)
c.409+1315_409+1316del (n.409+1315_409+1316del)
c.412+1315_412+1316del (n.412+1315_412+1316del)
c.5-29478_5-29477del (n.5-29478_5-29477del)
c.-43-18908_-43-18907del (n.-43-18908_-43-18907del)
c.-99+31842_-99+31843del (n.-99+31842_-99+31843del)
n.2238_2239del
n.2279_2280del
 ClinVar dbSNP
17g.43093428_43093430delinsCTTCA2260783955BRCA1n.2165_2167delinsAAG
c.2101_2103delinsAAG (p.Lys701=)
c.1975_1977delinsAAG (p.Lys659=)
c.2098_2100delinsAAG (p.Lys700=)
c.2023_2025delinsAAG (p.Lys675=)
c.784+1314_784+1316delinsAAG (n.784+1314_784+1316delinsAAG)
c.646+1314_646+1316delinsAAG (n.646+1314_646+1316delinsAAG)
c.1213_1215delinsAAG (p.Lys405=)
c.1978_1980delinsAAG (p.Lys660=)
c.1960_1962delinsAAG (p.Lys654=)
c.664+1314_664+1316delinsAAG (n.664+1314_664+1316delinsAAG)
c.706+1314_706+1316delinsAAG (n.706+1314_706+1316delinsAAG)
c.671-2398_671-2396delinsAAG (n.671-2398_671-2396delinsAAG)
c.*1884_*1886delinsAAG (n.*1884_*1886delinsAAG)
c.787+1314_787+1316delinsAAG (n.787+1314_787+1316delinsAAG)
c.409+1314_409+1316delinsAAG (n.409+1314_409+1316delinsAAG)
c.412+1314_412+1316delinsAAG (n.412+1314_412+1316delinsAAG)
c.5-29479_5-29477delinsAAG (n.5-29479_5-29477delinsAAG)
c.-43-18909_-43-18907delinsAAG (n.-43-18909_-43-18907delinsAAG)
c.-99+31841_-99+31843delinsAAG (n.-99+31841_-99+31843delinsAAG)
n.2237_2239delinsAAG
n.2278_2280delinsAAG
17g.43093429T>ACA10597799BRCA1n.2166A>T
c.2102A>T (p.Lys701Met)
c.1976A>T (p.Lys659Met)
c.2099A>T (p.Lys700Met)
c.2024A>T (p.Lys675Met)
c.784+1315A>T (n.784+1315A>T)
c.646+1315A>T (n.646+1315A>T)
c.1214A>T (p.Lys405Met)
c.1979A>T (p.Lys660Met)
c.1961A>T (p.Lys654Met)
c.664+1315A>T (n.664+1315A>T)
c.706+1315A>T (n.706+1315A>T)
c.671-2397A>T (n.671-2397A>T)
c.*1885A>T (n.*1885A>T)
c.787+1315A>T (n.787+1315A>T)
c.409+1315A>T (n.409+1315A>T)
c.412+1315A>T (n.412+1315A>T)
c.5-29478A>T (n.5-29478A>T)
c.-43-18908A>T (n.-43-18908A>T)
c.-99+31842A>T (n.-99+31842A>T)
n.2238A>T
n.2279A>T
 dbSNP
17g.43093429T>CCA10580634BRCA1n.2166A>G
c.2102A>G (p.Lys701Arg)
c.1976A>G (p.Lys659Arg)
c.2099A>G (p.Lys700Arg)
c.2024A>G (p.Lys675Arg)
c.784+1315A>G (n.784+1315A>G)
c.646+1315A>G (n.646+1315A>G)
c.1214A>G (p.Lys405Arg)
c.1979A>G (p.Lys660Arg)
c.1961A>G (p.Lys654Arg)
c.664+1315A>G (n.664+1315A>G)
c.706+1315A>G (n.706+1315A>G)
c.671-2397A>G (n.671-2397A>G)
c.*1885A>G (n.*1885A>G)
c.787+1315A>G (n.787+1315A>G)
c.409+1315A>G (n.409+1315A>G)
c.412+1315A>G (n.412+1315A>G)
c.5-29478A>G (n.5-29478A>G)
c.-43-18908A>G (n.-43-18908A>G)
c.-99+31842A>G (n.-99+31842A>G)
n.2238A>G
n.2279A>G
 ClinVar dbSNP
17g.43093429T>GCA10597800BRCA1n.2166A>C
c.2102A>C (p.Lys701Thr)
c.1976A>C (p.Lys659Thr)
c.2099A>C (p.Lys700Thr)
c.2024A>C (p.Lys675Thr)
c.784+1315A>C (n.784+1315A>C)
c.646+1315A>C (n.646+1315A>C)
c.1214A>C (p.Lys405Thr)
c.1979A>C (p.Lys660Thr)
c.1961A>C (p.Lys654Thr)
c.664+1315A>C (n.664+1315A>C)
c.706+1315A>C (n.706+1315A>C)
c.671-2397A>C (n.671-2397A>C)
c.*1885A>C (n.*1885A>C)
c.787+1315A>C (n.787+1315A>C)
c.409+1315A>C (n.409+1315A>C)
c.412+1315A>C (n.412+1315A>C)
c.5-29478A>C (n.5-29478A>C)
c.-43-18908A>C (n.-43-18908A>C)
c.-99+31842A>C (n.-99+31842A>C)
n.2238A>C
n.2279A>C
17g.43093429T=CA2260783956BRCA1n.2166A=
c.2102A= (p.Lys701=)
c.1976A= (p.Lys659=)
c.2099A= (p.Lys700=)
c.2024A= (p.Lys675=)
c.784+1315A= (n.784+1315A=)
c.646+1315A= (n.646+1315A=)
c.1214A= (p.Lys405=)
c.1979A= (p.Lys660=)
c.1961A= (p.Lys654=)
c.664+1315A= (n.664+1315A=)
c.706+1315A= (n.706+1315A=)
c.671-2397A= (n.671-2397A=)
c.*1885A= (n.*1885A=)
c.787+1315A= (n.787+1315A=)
c.409+1315A= (n.409+1315A=)
c.412+1315A= (n.412+1315A=)
c.5-29478A= (n.5-29478A=)
c.-43-18908A= (n.-43-18908A=)
c.-99+31842A= (n.-99+31842A=)
n.2238A=
n.2279A=
17g.43093429_43093430delCA001391BRCA1n.2165_2166del
c.2101_2102del (p.Lys701ValfsTer10)
c.1975_1976del (p.Lys659ValfsTer10)
c.2098_2099del (p.Lys700ValfsTer10)
c.2023_2024del (p.Lys675ValfsTer10)
c.784+1314_784+1315del (n.784+1314_784+1315del)
c.646+1314_646+1315del (n.646+1314_646+1315del)
c.1213_1214del (p.Lys405ValfsTer10)
c.1978_1979del (p.Lys660ValfsTer10)
c.1960_1961del (p.Lys654ValfsTer10)
c.664+1314_664+1315del (n.664+1314_664+1315del)
c.706+1314_706+1315del (n.706+1314_706+1315del)
c.671-2398_671-2397del (n.671-2398_671-2397del)
c.*1884_*1885del (n.*1884_*1885del)
c.787+1314_787+1315del (n.787+1314_787+1315del)
c.409+1314_409+1315del (n.409+1314_409+1315del)
c.412+1314_412+1315del (n.412+1314_412+1315del)
c.5-29479_5-29478del (n.5-29479_5-29478del)
c.-43-18909_-43-18908del (n.-43-18909_-43-18908del)
c.-99+31841_-99+31842del (n.-99+31841_-99+31842del)
n.2237_2238del
n.2278_2279del
 ClinVar dbSNP
17g.43093430delCA2695226249BRCA1n.2166del
c.2102del (p.Lys701SerfsTer2)
c.1976del (p.Lys659SerfsTer2)
c.2099del (p.Lys700SerfsTer2)
c.2024del (p.Lys675SerfsTer2)
c.784+1315del (n.784+1315del)
c.646+1315del (n.646+1315del)
c.1214del (p.Lys405SerfsTer2)
c.1979del (p.Lys660SerfsTer2)
c.1961del (p.Lys654SerfsTer2)
c.664+1315del (n.664+1315del)
c.706+1315del (n.706+1315del)
c.671-2397del (n.671-2397del)
c.*1885del (n.*1885del)
c.787+1315del (n.787+1315del)
c.409+1315del (n.409+1315del)
c.412+1315del (n.412+1315del)
c.5-29478del (n.5-29478del)
c.-43-18908del (n.-43-18908del)
c.-99+31842del (n.-99+31842del)
n.2238del
n.2279del
17g.43093430T>ACA10580635BRCA1n.2165A>T
c.2101A>T (p.Lys701Ter)
c.1975A>T (p.Lys659Ter)
c.2098A>T (p.Lys700Ter)
c.2023A>T (p.Lys675Ter)
c.784+1314A>T (n.784+1314A>T)
c.646+1314A>T (n.646+1314A>T)
c.1213A>T (p.Lys405Ter)
c.1978A>T (p.Lys660Ter)
c.1960A>T (p.Lys654Ter)
c.664+1314A>T (n.664+1314A>T)
c.706+1314A>T (n.706+1314A>T)
c.671-2398A>T (n.671-2398A>T)
c.*1884A>T (n.*1884A>T)
c.787+1314A>T (n.787+1314A>T)
c.409+1314A>T (n.409+1314A>T)
c.412+1314A>T (n.412+1314A>T)
c.5-29479A>T (n.5-29479A>T)
c.-43-18909A>T (n.-43-18909A>T)
c.-99+31841A>T (n.-99+31841A>T)
n.2237A>T
n.2278A>T
 ClinVar dbSNP
17g.43093430T>CCA10597801BRCA1n.2165A>G
c.2101A>G (p.Lys701Glu)
c.1975A>G (p.Lys659Glu)
c.2098A>G (p.Lys700Glu)
c.2023A>G (p.Lys675Glu)
c.784+1314A>G (n.784+1314A>G)
c.646+1314A>G (n.646+1314A>G)
c.1213A>G (p.Lys405Glu)
c.1978A>G (p.Lys660Glu)
c.1960A>G (p.Lys654Glu)
c.664+1314A>G (n.664+1314A>G)
c.706+1314A>G (n.706+1314A>G)
c.671-2398A>G (n.671-2398A>G)
c.*1884A>G (n.*1884A>G)
c.787+1314A>G (n.787+1314A>G)
c.409+1314A>G (n.409+1314A>G)
c.412+1314A>G (n.412+1314A>G)
c.5-29479A>G (n.5-29479A>G)
c.-43-18909A>G (n.-43-18909A>G)
c.-99+31841A>G (n.-99+31841A>G)
n.2237A>G
n.2278A>G
17g.43093430T>GCA10597802BRCA1n.2165A>C
c.2101A>C (p.Lys701Gln)
c.1975A>C (p.Lys659Gln)
c.2098A>C (p.Lys700Gln)
c.2023A>C (p.Lys675Gln)
c.784+1314A>C (n.784+1314A>C)
c.646+1314A>C (n.646+1314A>C)
c.1213A>C (p.Lys405Gln)
c.1978A>C (p.Lys660Gln)
c.1960A>C (p.Lys654Gln)
c.664+1314A>C (n.664+1314A>C)
c.706+1314A>C (n.706+1314A>C)
c.671-2398A>C (n.671-2398A>C)
c.*1884A>C (n.*1884A>C)
c.787+1314A>C (n.787+1314A>C)
c.409+1314A>C (n.409+1314A>C)
c.412+1314A>C (n.412+1314A>C)
c.5-29479A>C (n.5-29479A>C)
c.-43-18909A>C (n.-43-18909A>C)
c.-99+31841A>C (n.-99+31841A>C)
n.2237A>C
n.2278A>C
17g.43093430T=CA2260783957BRCA1n.2165A=
c.2101A= (p.Lys701=)
c.1975A= (p.Lys659=)
c.2098A= (p.Lys700=)
c.2023A= (p.Lys675=)
c.784+1314A= (n.784+1314A=)
c.646+1314A= (n.646+1314A=)
c.1213A= (p.Lys405=)
c.1978A= (p.Lys660=)
c.1960A= (p.Lys654=)
c.664+1314A= (n.664+1314A=)
c.706+1314A= (n.706+1314A=)
c.671-2398A= (n.671-2398A=)
c.*1884A= (n.*1884A=)
c.787+1314A= (n.787+1314A=)
c.409+1314A= (n.409+1314A=)
c.412+1314A= (n.412+1314A=)
c.5-29479A= (n.5-29479A=)
c.-43-18909A= (n.-43-18909A=)
c.-99+31841A= (n.-99+31841A=)
n.2237A=
n.2278A=
17g.43093431C>ACA500232930BRCA1n.2164G>T
c.2100G>T (p.Leu700=)
c.1974G>T (p.Leu658=)
c.2097G>T (p.Leu699=)
c.2022G>T (p.Leu674=)
c.784+1313G>T (n.784+1313G>T)
c.646+1313G>T (n.646+1313G>T)
c.1212G>T (p.Leu404=)
c.1977G>T (p.Leu659=)
c.1959G>T (p.Leu653=)
c.664+1313G>T (n.664+1313G>T)
c.706+1313G>T (n.706+1313G>T)
c.671-2399G>T (n.671-2399G>T)
c.*1883G>T (n.*1883G>T)
c.787+1313G>T (n.787+1313G>T)
c.409+1313G>T (n.409+1313G>T)
c.412+1313G>T (n.412+1313G>T)
c.5-29480G>T (n.5-29480G>T)
c.-43-18910G>T (n.-43-18910G>T)
c.-99+31840G>T (n.-99+31840G>T)
n.2236G>T
n.2277G>T
 dbSNP
17g.43093431C=CA2260783958BRCA1n.2164G=
c.2100G= (p.Leu700=)
c.1974G= (p.Leu658=)
c.2097G= (p.Leu699=)
c.2022G= (p.Leu674=)
c.784+1313G= (n.784+1313G=)
c.646+1313G= (n.646+1313G=)
c.1212G= (p.Leu404=)
c.1977G= (p.Leu659=)
c.1959G= (p.Leu653=)
c.664+1313G= (n.664+1313G=)
c.706+1313G= (n.706+1313G=)
c.671-2399G= (n.671-2399G=)
c.*1883G= (n.*1883G=)
c.787+1313G= (n.787+1313G=)
c.409+1313G= (n.409+1313G=)
c.412+1313G= (n.412+1313G=)
c.5-29480G= (n.5-29480G=)
c.-43-18910G= (n.-43-18910G=)
c.-99+31840G= (n.-99+31840G=)
n.2236G=
n.2277G=
17g.43093431C>GCA500232931BRCA1n.2164G>C
c.2100G>C (p.Leu700=)
c.1974G>C (p.Leu658=)
c.2097G>C (p.Leu699=)
c.2022G>C (p.Leu674=)
c.784+1313G>C (n.784+1313G>C)
c.646+1313G>C (n.646+1313G>C)
c.1212G>C (p.Leu404=)
c.1977G>C (p.Leu659=)
c.1959G>C (p.Leu653=)
c.664+1313G>C (n.664+1313G>C)
c.706+1313G>C (n.706+1313G>C)
c.671-2399G>C (n.671-2399G>C)
c.*1883G>C (n.*1883G>C)
c.787+1313G>C (n.787+1313G>C)
c.409+1313G>C (n.409+1313G>C)
c.412+1313G>C (n.412+1313G>C)
c.5-29480G>C (n.5-29480G>C)
c.-43-18910G>C (n.-43-18910G>C)
c.-99+31840G>C (n.-99+31840G>C)
n.2236G>C
n.2277G>C
 dbSNP
17g.43093431C>TCA500232932BRCA1n.2164G>A
c.2100G>A (p.Leu700=)
c.1974G>A (p.Leu658=)
c.2097G>A (p.Leu699=)
c.2022G>A (p.Leu674=)
c.784+1313G>A (n.784+1313G>A)
c.646+1313G>A (n.646+1313G>A)
c.1212G>A (p.Leu404=)
c.1977G>A (p.Leu659=)
c.1959G>A (p.Leu653=)
c.664+1313G>A (n.664+1313G>A)
c.706+1313G>A (n.706+1313G>A)
c.671-2399G>A (n.671-2399G>A)
c.*1883G>A (n.*1883G>A)
c.787+1313G>A (n.787+1313G>A)
c.409+1313G>A (n.409+1313G>A)
c.412+1313G>A (n.412+1313G>A)
c.5-29480G>A (n.5-29480G>A)
c.-43-18910G>A (n.-43-18910G>A)
c.-99+31840G>A (n.-99+31840G>A)
n.2236G>A
n.2277G>A
 ClinVar dbSNP
17g.43093431_43093432insTCA658824020BRCA1n.2163_2164insA
c.2099_2100insA (p.Lys701GlufsTer11)
c.1973_1974insA (p.Lys659GlufsTer11)
c.2096_2097insA (p.Lys700GlufsTer11)
c.2021_2022insA (p.Lys675GlufsTer11)
c.784+1312_784+1313insA (n.784+1312_784+1313insA)
c.646+1312_646+1313insA (n.646+1312_646+1313insA)
c.1211_1212insA (p.Lys405GlufsTer11)
c.1976_1977insA (p.Lys660GlufsTer11)
c.1958_1959insA (p.Lys654GlufsTer11)
c.664+1312_664+1313insA (n.664+1312_664+1313insA)
c.706+1312_706+1313insA (n.706+1312_706+1313insA)
c.671-2400_671-2399insA (n.671-2400_671-2399insA)
c.*1882_*1883insA (n.*1882_*1883insA)
c.787+1312_787+1313insA (n.787+1312_787+1313insA)
c.409+1312_409+1313insA (n.409+1312_409+1313insA)
c.412+1312_412+1313insA (n.412+1312_412+1313insA)
c.5-29481_5-29480insA (n.5-29481_5-29480insA)
c.-43-18911_-43-18910insA (n.-43-18911_-43-18910insA)
c.-99+31839_-99+31840insA (n.-99+31839_-99+31840insA)
n.2235_2236insA
n.2276_2277insA
 ClinVar dbSNP
17g.43093432A=CA2260783959BRCA1n.2163T=
c.2099T= (p.Leu700=)
c.1973T= (p.Leu658=)
c.2096T= (p.Leu699=)
c.2021T= (p.Leu674=)
c.784+1312T= (n.784+1312T=)
c.646+1312T= (n.646+1312T=)
c.1211T= (p.Leu404=)
c.1976T= (p.Leu659=)
c.1958T= (p.Leu653=)
c.664+1312T= (n.664+1312T=)
c.706+1312T= (n.706+1312T=)
c.671-2400T= (n.671-2400T=)
c.*1882T= (n.*1882T=)
c.787+1312T= (n.787+1312T=)
c.409+1312T= (n.409+1312T=)
c.412+1312T= (n.412+1312T=)
c.5-29481T= (n.5-29481T=)
c.-43-18911T= (n.-43-18911T=)
c.-99+31839T= (n.-99+31839T=)
n.2235T=
n.2276T=
17g.43093432A>CCA10597803BRCA1n.2163T>G
c.2099T>G (p.Leu700Arg)
c.1973T>G (p.Leu658Arg)
c.2096T>G (p.Leu699Arg)
c.2021T>G (p.Leu674Arg)
c.784+1312T>G (n.784+1312T>G)
c.646+1312T>G (n.646+1312T>G)
c.1211T>G (p.Leu404Arg)
c.1976T>G (p.Leu659Arg)
c.1958T>G (p.Leu653Arg)
c.664+1312T>G (n.664+1312T>G)
c.706+1312T>G (n.706+1312T>G)
c.671-2400T>G (n.671-2400T>G)
c.*1882T>G (n.*1882T>G)
c.787+1312T>G (n.787+1312T>G)
c.409+1312T>G (n.409+1312T>G)
c.412+1312T>G (n.412+1312T>G)
c.5-29481T>G (n.5-29481T>G)
c.-43-18911T>G (n.-43-18911T>G)
c.-99+31839T>G (n.-99+31839T>G)
n.2235T>G
n.2276T>G
17g.43093432A>GCA10597804BRCA1n.2163T>C
c.2099T>C (p.Leu700Pro)
c.1973T>C (p.Leu658Pro)
c.2096T>C (p.Leu699Pro)
c.2021T>C (p.Leu674Pro)
c.784+1312T>C (n.784+1312T>C)
c.646+1312T>C (n.646+1312T>C)
c.1211T>C (p.Leu404Pro)
c.1976T>C (p.Leu659Pro)
c.1958T>C (p.Leu653Pro)
c.664+1312T>C (n.664+1312T>C)
c.706+1312T>C (n.706+1312T>C)
c.671-2400T>C (n.671-2400T>C)
c.*1882T>C (n.*1882T>C)
c.787+1312T>C (n.787+1312T>C)
c.409+1312T>C (n.409+1312T>C)
c.412+1312T>C (n.412+1312T>C)
c.5-29481T>C (n.5-29481T>C)
c.-43-18911T>C (n.-43-18911T>C)
c.-99+31839T>C (n.-99+31839T>C)
n.2235T>C
n.2276T>C
 ClinVar dbSNP
17g.43093432A>TCA10597805BRCA1n.2163T>A
c.2099T>A (p.Leu700Gln)
c.1973T>A (p.Leu658Gln)
c.2096T>A (p.Leu699Gln)
c.2021T>A (p.Leu674Gln)
c.784+1312T>A (n.784+1312T>A)
c.646+1312T>A (n.646+1312T>A)
c.1211T>A (p.Leu404Gln)
c.1976T>A (p.Leu659Gln)
c.1958T>A (p.Leu653Gln)
c.664+1312T>A (n.664+1312T>A)
c.706+1312T>A (n.706+1312T>A)
c.671-2400T>A (n.671-2400T>A)
c.*1882T>A (n.*1882T>A)
c.787+1312T>A (n.787+1312T>A)
c.409+1312T>A (n.409+1312T>A)
c.412+1312T>A (n.412+1312T>A)
c.5-29481T>A (n.5-29481T>A)
c.-43-18911T>A (n.-43-18911T>A)
c.-99+31839T>A (n.-99+31839T>A)
n.2235T>A
n.2276T>A
 ClinVar dbSNP
17g.43093432_43093433insTCA001388BRCA1n.2162_2163insA
c.2098_2099insA (p.Leu700HisfsTer12)
c.1972_1973insA (p.Leu658HisfsTer12)
c.2095_2096insA (p.Leu699HisfsTer12)
c.2020_2021insA (p.Leu674HisfsTer12)
c.784+1311_784+1312insA (n.784+1311_784+1312insA)
c.646+1311_646+1312insA (n.646+1311_646+1312insA)
c.1210_1211insA (p.Leu404HisfsTer12)
c.1975_1976insA (p.Leu659HisfsTer12)
c.1957_1958insA (p.Leu653HisfsTer12)
c.664+1311_664+1312insA (n.664+1311_664+1312insA)
c.706+1311_706+1312insA (n.706+1311_706+1312insA)
c.671-2401_671-2400insA (n.671-2401_671-2400insA)
c.*1881_*1882insA (n.*1881_*1882insA)
c.787+1311_787+1312insA (n.787+1311_787+1312insA)
c.409+1311_409+1312insA (n.409+1311_409+1312insA)
c.412+1311_412+1312insA (n.412+1311_412+1312insA)
c.5-29482_5-29481insA (n.5-29482_5-29481insA)
c.-43-18912_-43-18911insA (n.-43-18912_-43-18911insA)
c.-99+31838_-99+31839insA (n.-99+31838_-99+31839insA)
n.2234_2235insA
n.2275_2276insA
 ClinVar dbSNP
17g.43093433G>ACA500232933BRCA1n.2162C>T
c.2098C>T (p.Leu700=)
c.1972C>T (p.Leu658=)
c.2095C>T (p.Leu699=)
c.2020C>T (p.Leu674=)
c.784+1311C>T (n.784+1311C>T)
c.646+1311C>T (n.646+1311C>T)
c.1210C>T (p.Leu404=)
c.1975C>T (p.Leu659=)
c.1957C>T (p.Leu653=)
c.664+1311C>T (n.664+1311C>T)
c.706+1311C>T (n.706+1311C>T)
c.671-2401C>T (n.671-2401C>T)
c.*1881C>T (n.*1881C>T)
c.787+1311C>T (n.787+1311C>T)
c.409+1311C>T (n.409+1311C>T)
c.412+1311C>T (n.412+1311C>T)
c.5-29482C>T (n.5-29482C>T)
c.-43-18912C>T (n.-43-18912C>T)
c.-99+31838C>T (n.-99+31838C>T)
n.2234C>T
n.2275C>T
 dbSNP
17g.43093433G>CCA058825BRCA1n.2162C>G
c.2098C>G (p.Leu700Val)
c.1972C>G (p.Leu658Val)
c.2095C>G (p.Leu699Val)
c.2020C>G (p.Leu674Val)
c.784+1311C>G (n.784+1311C>G)
c.646+1311C>G (n.646+1311C>G)
c.1210C>G (p.Leu404Val)
c.1975C>G (p.Leu659Val)
c.1957C>G (p.Leu653Val)
c.664+1311C>G (n.664+1311C>G)
c.706+1311C>G (n.706+1311C>G)
c.671-2401C>G (n.671-2401C>G)
c.*1881C>G (n.*1881C>G)
c.787+1311C>G (n.787+1311C>G)
c.409+1311C>G (n.409+1311C>G)
c.412+1311C>G (n.412+1311C>G)
c.5-29482C>G (n.5-29482C>G)
c.-43-18912C>G (n.-43-18912C>G)
c.-99+31838C>G (n.-99+31838C>G)
n.2234C>G
n.2275C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched