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_43093361delinsGGACA2580094075BRCA1n.2234_2236delinsTCC
c.2170_2172delinsTCC (p.Pro724Ser)
c.2044_2046delinsTCC (p.Pro682Ser)
c.2167_2169delinsTCC (p.Pro723Ser)
c.2092_2094delinsTCC (p.Pro698Ser)
c.784+1383_784+1385delinsTCC (n.784+1383_784+1385delinsTCC)
c.646+1383_646+1385delinsTCC (n.646+1383_646+1385delinsTCC)
c.1282_1284delinsTCC (p.Pro428Ser)
c.2047_2049delinsTCC (p.Pro683Ser)
c.2029_2031delinsTCC (p.Pro677Ser)
c.664+1383_664+1385delinsTCC (n.664+1383_664+1385delinsTCC)
c.706+1383_706+1385delinsTCC (n.706+1383_706+1385delinsTCC)
c.671-2329_671-2327delinsTCC (n.671-2329_671-2327delinsTCC)
c.*1953_*1955delinsTCC (n.*1953_*1955delinsTCC)
c.787+1383_787+1385delinsTCC (n.787+1383_787+1385delinsTCC)
c.409+1383_409+1385delinsTCC (n.409+1383_409+1385delinsTCC)
c.412+1383_412+1385delinsTCC (n.412+1383_412+1385delinsTCC)
c.5-29410_5-29408delinsTCC (n.5-29410_5-29408delinsTCC)
c.-43-18840_-43-18838delinsTCC (n.-43-18840_-43-18838delinsTCC)
c.-99+31910_-99+31912delinsTCC (n.-99+31910_-99+31912delinsTCC)
n.2306_2308delinsTCC
n.2347_2349delinsTCC
ClinVar
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.43093360G>ACA058748BRCA1n.2235C>T
c.2171C>T (p.Pro724Leu)
c.2045C>T (p.Pro682Leu)
c.2168C>T (p.Pro723Leu)
c.2093C>T (p.Pro698Leu)
c.784+1384C>T (n.784+1384C>T)
c.646+1384C>T (n.646+1384C>T)
c.1283C>T (p.Pro428Leu)
c.2048C>T (p.Pro683Leu)
c.2030C>T (p.Pro677Leu)
c.664+1384C>T (n.664+1384C>T)
c.706+1384C>T (n.706+1384C>T)
c.671-2328C>T (n.671-2328C>T)
c.*1954C>T (n.*1954C>T)
c.787+1384C>T (n.787+1384C>T)
c.409+1384C>T (n.409+1384C>T)
c.412+1384C>T (n.412+1384C>T)
c.5-29409C>T (n.5-29409C>T)
c.-43-18839C>T (n.-43-18839C>T)
c.-99+31911C>T (n.-99+31911C>T)
n.2307C>T
n.2348C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093360G>CCA10597660BRCA1n.2235C>G
c.2171C>G (p.Pro724Arg)
c.2045C>G (p.Pro682Arg)
c.2168C>G (p.Pro723Arg)
c.2093C>G (p.Pro698Arg)
c.784+1384C>G (n.784+1384C>G)
c.646+1384C>G (n.646+1384C>G)
c.1283C>G (p.Pro428Arg)
c.2048C>G (p.Pro683Arg)
c.2030C>G (p.Pro677Arg)
c.664+1384C>G (n.664+1384C>G)
c.706+1384C>G (n.706+1384C>G)
c.671-2328C>G (n.671-2328C>G)
c.*1954C>G (n.*1954C>G)
c.787+1384C>G (n.787+1384C>G)
c.409+1384C>G (n.409+1384C>G)
c.412+1384C>G (n.412+1384C>G)
c.5-29409C>G (n.5-29409C>G)
c.-43-18839C>G (n.-43-18839C>G)
c.-99+31911C>G (n.-99+31911C>G)
n.2307C>G
n.2348C>G
dbSNP
17g.43093360G=CA2260783880BRCA1n.2235C=
c.2171C= (p.Pro724=)
c.2045C= (p.Pro682=)
c.2168C= (p.Pro723=)
c.2093C= (p.Pro698=)
c.784+1384C= (n.784+1384C=)
c.646+1384C= (n.646+1384C=)
c.1283C= (p.Pro428=)
c.2048C= (p.Pro683=)
c.2030C= (p.Pro677=)
c.664+1384C= (n.664+1384C=)
c.706+1384C= (n.706+1384C=)
c.671-2328C= (n.671-2328C=)
c.*1954C= (n.*1954C=)
c.787+1384C= (n.787+1384C=)
c.409+1384C= (n.409+1384C=)
c.412+1384C= (n.412+1384C=)
c.5-29409C= (n.5-29409C=)
c.-43-18839C= (n.-43-18839C=)
c.-99+31911C= (n.-99+31911C=)
n.2307C=
n.2348C=
17g.43093360G>TCA10597661BRCA1n.2235C>A
c.2171C>A (p.Pro724His)
c.2045C>A (p.Pro682His)
c.2168C>A (p.Pro723His)
c.2093C>A (p.Pro698His)
c.784+1384C>A (n.784+1384C>A)
c.646+1384C>A (n.646+1384C>A)
c.1283C>A (p.Pro428His)
c.2048C>A (p.Pro683His)
c.2030C>A (p.Pro677His)
c.664+1384C>A (n.664+1384C>A)
c.706+1384C>A (n.706+1384C>A)
c.671-2328C>A (n.671-2328C>A)
c.*1954C>A (n.*1954C>A)
c.787+1384C>A (n.787+1384C>A)
c.409+1384C>A (n.409+1384C>A)
c.412+1384C>A (n.412+1384C>A)
c.5-29409C>A (n.5-29409C>A)
c.-43-18839C>A (n.-43-18839C>A)
c.-99+31911C>A (n.-99+31911C>A)
n.2307C>A
n.2348C>A
dbSNP
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.43093361G>ACA10597662BRCA1n.2234C>T
c.2170C>T (p.Pro724Ser)
c.2044C>T (p.Pro682Ser)
c.2167C>T (p.Pro723Ser)
c.2092C>T (p.Pro698Ser)
c.784+1383C>T (n.784+1383C>T)
c.646+1383C>T (n.646+1383C>T)
c.1282C>T (p.Pro428Ser)
c.2047C>T (p.Pro683Ser)
c.2029C>T (p.Pro677Ser)
c.664+1383C>T (n.664+1383C>T)
c.706+1383C>T (n.706+1383C>T)
c.671-2329C>T (n.671-2329C>T)
c.*1953C>T (n.*1953C>T)
c.787+1383C>T (n.787+1383C>T)
c.409+1383C>T (n.409+1383C>T)
c.412+1383C>T (n.412+1383C>T)
c.5-29410C>T (n.5-29410C>T)
c.-43-18840C>T (n.-43-18840C>T)
c.-99+31910C>T (n.-99+31910C>T)
n.2306C>T
n.2347C>T
ClinVar dbSNP
17g.43093361G>CCA10597663BRCA1n.2234C>G
c.2170C>G (p.Pro724Ala)
c.2044C>G (p.Pro682Ala)
c.2167C>G (p.Pro723Ala)
c.2092C>G (p.Pro698Ala)
c.784+1383C>G (n.784+1383C>G)
c.646+1383C>G (n.646+1383C>G)
c.1282C>G (p.Pro428Ala)
c.2047C>G (p.Pro683Ala)
c.2029C>G (p.Pro677Ala)
c.664+1383C>G (n.664+1383C>G)
c.706+1383C>G (n.706+1383C>G)
c.671-2329C>G (n.671-2329C>G)
c.*1953C>G (n.*1953C>G)
c.787+1383C>G (n.787+1383C>G)
c.409+1383C>G (n.409+1383C>G)
c.412+1383C>G (n.412+1383C>G)
c.5-29410C>G (n.5-29410C>G)
c.-43-18840C>G (n.-43-18840C>G)
c.-99+31910C>G (n.-99+31910C>G)
n.2306C>G
n.2347C>G
dbSNP
17g.43093361G>TCA10597664BRCA1n.2234C>A
c.2170C>A (p.Pro724Thr)
c.2044C>A (p.Pro682Thr)
c.2167C>A (p.Pro723Thr)
c.2092C>A (p.Pro698Thr)
c.784+1383C>A (n.784+1383C>A)
c.646+1383C>A (n.646+1383C>A)
c.1282C>A (p.Pro428Thr)
c.2047C>A (p.Pro683Thr)
c.2029C>A (p.Pro677Thr)
c.664+1383C>A (n.664+1383C>A)
c.706+1383C>A (n.706+1383C>A)
c.671-2329C>A (n.671-2329C>A)
c.*1953C>A (n.*1953C>A)
c.787+1383C>A (n.787+1383C>A)
c.409+1383C>A (n.409+1383C>A)
c.412+1383C>A (n.412+1383C>A)
c.5-29410C>A (n.5-29410C>A)
c.-43-18840C>A (n.-43-18840C>A)
c.-99+31910C>A (n.-99+31910C>A)
n.2306C>A
n.2347C>A
dbSNP gnomAD v4
17g.43093362delCA500232892BRCA1n.2233del
c.2169del (p.Pro724LeufsTer12)
c.2043del (p.Pro682LeufsTer12)
c.2166del (p.Pro723LeufsTer12)
c.2091del (p.Pro698LeufsTer12)
c.784+1382del (n.784+1382del)
c.646+1382del (n.646+1382del)
c.1281del (p.Pro428LeufsTer12)
c.2046del (p.Pro683LeufsTer12)
c.2028del (p.Pro677LeufsTer12)
c.664+1382del (n.664+1382del)
c.706+1382del (n.706+1382del)
c.671-2330del (n.671-2330del)
c.*1952del (n.*1952del)
c.787+1382del (n.787+1382del)
c.409+1382del (n.409+1382del)
c.412+1382del (n.412+1382del)
c.5-29411del (n.5-29411del)
c.-43-18841del (n.-43-18841del)
c.-99+31909del (n.-99+31909del)
n.2305del
n.2346del
COSMIC
17g.43093362A=CA2260783882BRCA1n.2233T=
c.2169T= (p.Asn723=)
c.2043T= (p.Asn681=)
c.2166T= (p.Asn722=)
c.2091T= (p.Asn697=)
c.784+1382T= (n.784+1382T=)
c.646+1382T= (n.646+1382T=)
c.1281T= (p.Asn427=)
c.2046T= (p.Asn682=)
c.2028T= (p.Asn676=)
c.664+1382T= (n.664+1382T=)
c.706+1382T= (n.706+1382T=)
c.671-2330T= (n.671-2330T=)
c.*1952T= (n.*1952T=)
c.787+1382T= (n.787+1382T=)
c.409+1382T= (n.409+1382T=)
c.412+1382T= (n.412+1382T=)
c.5-29411T= (n.5-29411T=)
c.-43-18841T= (n.-43-18841T=)
c.-99+31909T= (n.-99+31909T=)
n.2305T=
n.2346T=
17g.43093362A>CCA10597665BRCA1n.2233T>G
c.2169T>G (p.Asn723Lys)
c.2043T>G (p.Asn681Lys)
c.2166T>G (p.Asn722Lys)
c.2091T>G (p.Asn697Lys)
c.784+1382T>G (n.784+1382T>G)
c.646+1382T>G (n.646+1382T>G)
c.1281T>G (p.Asn427Lys)
c.2046T>G (p.Asn682Lys)
c.2028T>G (p.Asn676Lys)
c.664+1382T>G (n.664+1382T>G)
c.706+1382T>G (n.706+1382T>G)
c.671-2330T>G (n.671-2330T>G)
c.*1952T>G (n.*1952T>G)
c.787+1382T>G (n.787+1382T>G)
c.409+1382T>G (n.409+1382T>G)
c.412+1382T>G (n.412+1382T>G)
c.5-29411T>G (n.5-29411T>G)
c.-43-18841T>G (n.-43-18841T>G)
c.-99+31909T>G (n.-99+31909T>G)
n.2305T>G
n.2346T>G
dbSNP
17g.43093362A>GCA500232891BRCA1n.2233T>C
c.2169T>C (p.Asn723=)
c.2043T>C (p.Asn681=)
c.2166T>C (p.Asn722=)
c.2091T>C (p.Asn697=)
c.784+1382T>C (n.784+1382T>C)
c.646+1382T>C (n.646+1382T>C)
c.1281T>C (p.Asn427=)
c.2046T>C (p.Asn682=)
c.2028T>C (p.Asn676=)
c.664+1382T>C (n.664+1382T>C)
c.706+1382T>C (n.706+1382T>C)
c.671-2330T>C (n.671-2330T>C)
c.*1952T>C (n.*1952T>C)
c.787+1382T>C (n.787+1382T>C)
c.409+1382T>C (n.409+1382T>C)
c.412+1382T>C (n.412+1382T>C)
c.5-29411T>C (n.5-29411T>C)
c.-43-18841T>C (n.-43-18841T>C)
c.-99+31909T>C (n.-99+31909T>C)
n.2305T>C
n.2346T>C
17g.43093362A>TCA058752BRCA1n.2233T>A
c.2169T>A (p.Asn723Lys)
c.2043T>A (p.Asn681Lys)
c.2166T>A (p.Asn722Lys)
c.2091T>A (p.Asn697Lys)
c.784+1382T>A (n.784+1382T>A)
c.646+1382T>A (n.646+1382T>A)
c.1281T>A (p.Asn427Lys)
c.2046T>A (p.Asn682Lys)
c.2028T>A (p.Asn676Lys)
c.664+1382T>A (n.664+1382T>A)
c.706+1382T>A (n.706+1382T>A)
c.671-2330T>A (n.671-2330T>A)
c.*1952T>A (n.*1952T>A)
c.787+1382T>A (n.787+1382T>A)
c.409+1382T>A (n.409+1382T>A)
c.412+1382T>A (n.412+1382T>A)
c.5-29411T>A (n.5-29411T>A)
c.-43-18841T>A (n.-43-18841T>A)
c.-99+31909T>A (n.-99+31909T>A)
n.2305T>A
n.2346T>A
dbSNP ExAC gnomAD v2
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.43093363T>ACA10597666BRCA1n.2232A>T
c.2168A>T (p.Asn723Ile)
c.2042A>T (p.Asn681Ile)
c.2165A>T (p.Asn722Ile)
c.2090A>T (p.Asn697Ile)
c.784+1381A>T (n.784+1381A>T)
c.646+1381A>T (n.646+1381A>T)
c.1280A>T (p.Asn427Ile)
c.2045A>T (p.Asn682Ile)
c.2027A>T (p.Asn676Ile)
c.664+1381A>T (n.664+1381A>T)
c.706+1381A>T (n.706+1381A>T)
c.671-2331A>T (n.671-2331A>T)
c.*1951A>T (n.*1951A>T)
c.787+1381A>T (n.787+1381A>T)
c.409+1381A>T (n.409+1381A>T)
c.412+1381A>T (n.412+1381A>T)
c.5-29412A>T (n.5-29412A>T)
c.-43-18842A>T (n.-43-18842A>T)
c.-99+31908A>T (n.-99+31908A>T)
n.2304A>T
n.2345A>T
dbSNP
17g.43093363T>CCA10597667BRCA1n.2232A>G
c.2168A>G (p.Asn723Ser)
c.2042A>G (p.Asn681Ser)
c.2165A>G (p.Asn722Ser)
c.2090A>G (p.Asn697Ser)
c.784+1381A>G (n.784+1381A>G)
c.646+1381A>G (n.646+1381A>G)
c.1280A>G (p.Asn427Ser)
c.2045A>G (p.Asn682Ser)
c.2027A>G (p.Asn676Ser)
c.664+1381A>G (n.664+1381A>G)
c.706+1381A>G (n.706+1381A>G)
c.671-2331A>G (n.671-2331A>G)
c.*1951A>G (n.*1951A>G)
c.787+1381A>G (n.787+1381A>G)
c.409+1381A>G (n.409+1381A>G)
c.412+1381A>G (n.412+1381A>G)
c.5-29412A>G (n.5-29412A>G)
c.-43-18842A>G (n.-43-18842A>G)
c.-99+31908A>G (n.-99+31908A>G)
n.2304A>G
n.2345A>G
ClinVar
17g.43093363T>GCA10597668BRCA1n.2232A>C
c.2168A>C (p.Asn723Thr)
c.2042A>C (p.Asn681Thr)
c.2165A>C (p.Asn722Thr)
c.2090A>C (p.Asn697Thr)
c.784+1381A>C (n.784+1381A>C)
c.646+1381A>C (n.646+1381A>C)
c.1280A>C (p.Asn427Thr)
c.2045A>C (p.Asn682Thr)
c.2027A>C (p.Asn676Thr)
c.664+1381A>C (n.664+1381A>C)
c.706+1381A>C (n.706+1381A>C)
c.671-2331A>C (n.671-2331A>C)
c.*1951A>C (n.*1951A>C)
c.787+1381A>C (n.787+1381A>C)
c.409+1381A>C (n.409+1381A>C)
c.412+1381A>C (n.412+1381A>C)
c.5-29412A>C (n.5-29412A>C)
c.-43-18842A>C (n.-43-18842A>C)
c.-99+31908A>C (n.-99+31908A>C)
n.2304A>C
n.2345A>C
dbSNP
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.43093364T>ACA10597669BRCA1n.2231A>T
c.2167A>T (p.Asn723Tyr)
c.2041A>T (p.Asn681Tyr)
c.2164A>T (p.Asn722Tyr)
c.2089A>T (p.Asn697Tyr)
c.784+1380A>T (n.784+1380A>T)
c.646+1380A>T (n.646+1380A>T)
c.1279A>T (p.Asn427Tyr)
c.2044A>T (p.Asn682Tyr)
c.2026A>T (p.Asn676Tyr)
c.664+1380A>T (n.664+1380A>T)
c.706+1380A>T (n.706+1380A>T)
c.671-2332A>T (n.671-2332A>T)
c.*1950A>T (n.*1950A>T)
c.787+1380A>T (n.787+1380A>T)
c.409+1380A>T (n.409+1380A>T)
c.412+1380A>T (n.412+1380A>T)
c.5-29413A>T (n.5-29413A>T)
c.-43-18843A>T (n.-43-18843A>T)
c.-99+31907A>T (n.-99+31907A>T)
n.2303A>T
n.2344A>T
dbSNP
17g.43093364T>CCA001447BRCA1n.2231A>G
c.2167A>G (p.Asn723Asp)
c.2041A>G (p.Asn681Asp)
c.2164A>G (p.Asn722Asp)
c.2089A>G (p.Asn697Asp)
c.784+1380A>G (n.784+1380A>G)
c.646+1380A>G (n.646+1380A>G)
c.1279A>G (p.Asn427Asp)
c.2044A>G (p.Asn682Asp)
c.2026A>G (p.Asn676Asp)
c.664+1380A>G (n.664+1380A>G)
c.706+1380A>G (n.706+1380A>G)
c.671-2332A>G (n.671-2332A>G)
c.*1950A>G (n.*1950A>G)
c.787+1380A>G (n.787+1380A>G)
c.409+1380A>G (n.409+1380A>G)
c.412+1380A>G (n.412+1380A>G)
c.5-29413A>G (n.5-29413A>G)
c.-43-18843A>G (n.-43-18843A>G)
c.-99+31907A>G (n.-99+31907A>G)
n.2303A>G
n.2344A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43093364T>GCA10597670BRCA1n.2231A>C
c.2167A>C (p.Asn723His)
c.2041A>C (p.Asn681His)
c.2164A>C (p.Asn722His)
c.2089A>C (p.Asn697His)
c.784+1380A>C (n.784+1380A>C)
c.646+1380A>C (n.646+1380A>C)
c.1279A>C (p.Asn427His)
c.2044A>C (p.Asn682His)
c.2026A>C (p.Asn676His)
c.664+1380A>C (n.664+1380A>C)
c.706+1380A>C (n.706+1380A>C)
c.671-2332A>C (n.671-2332A>C)
c.*1950A>C (n.*1950A>C)
c.787+1380A>C (n.787+1380A>C)
c.409+1380A>C (n.409+1380A>C)
c.412+1380A>C (n.412+1380A>C)
c.5-29413A>C (n.5-29413A>C)
c.-43-18843A>C (n.-43-18843A>C)
c.-99+31907A>C (n.-99+31907A>C)
n.2303A>C
n.2344A>C
17g.43093364T=CA2260783883BRCA1n.2231A=
c.2167A= (p.Asn723=)
c.2041A= (p.Asn681=)
c.2164A= (p.Asn722=)
c.2089A= (p.Asn697=)
c.784+1380A= (n.784+1380A=)
c.646+1380A= (n.646+1380A=)
c.1279A= (p.Asn427=)
c.2044A= (p.Asn682=)
c.2026A= (p.Asn676=)
c.664+1380A= (n.664+1380A=)
c.706+1380A= (n.706+1380A=)
c.671-2332A= (n.671-2332A=)
c.*1950A= (n.*1950A=)
c.787+1380A= (n.787+1380A=)
c.409+1380A= (n.409+1380A=)
c.412+1380A= (n.412+1380A=)
c.5-29413A= (n.5-29413A=)
c.-43-18843A= (n.-43-18843A=)
c.-99+31907A= (n.-99+31907A=)
n.2303A=
n.2344A=
17g.43093364_43093365delinsTGCA2260783884BRCA1n.2230_2231delinsCA
c.2166_2167delinsCA (p.Val722=)
c.2040_2041delinsCA (p.Val680=)
c.2163_2164delinsCA (p.Val721=)
c.2088_2089delinsCA (p.Val696=)
c.784+1379_784+1380delinsCA (n.784+1379_784+1380delinsCA)
c.646+1379_646+1380delinsCA (n.646+1379_646+1380delinsCA)
c.1278_1279delinsCA (p.Val426=)
c.2043_2044delinsCA (p.Val681=)
c.2025_2026delinsCA (p.Val675=)
c.664+1379_664+1380delinsCA (n.664+1379_664+1380delinsCA)
c.706+1379_706+1380delinsCA (n.706+1379_706+1380delinsCA)
c.671-2333_671-2332delinsCA (n.671-2333_671-2332delinsCA)
c.*1949_*1950delinsCA (n.*1949_*1950delinsCA)
c.787+1379_787+1380delinsCA (n.787+1379_787+1380delinsCA)
c.409+1379_409+1380delinsCA (n.409+1379_409+1380delinsCA)
c.412+1379_412+1380delinsCA (n.412+1379_412+1380delinsCA)
c.5-29414_5-29413delinsCA (n.5-29414_5-29413delinsCA)
c.-43-18844_-43-18843delinsCA (n.-43-18844_-43-18843delinsCA)
c.-99+31906_-99+31907delinsCA (n.-99+31906_-99+31907delinsCA)
n.2302_2303delinsCA
n.2343_2344delinsCA
17g.43093365delCA001446BRCA1n.2230del
c.2166del (p.Asn723IlefsTer13)
c.2040del (p.Asn681IlefsTer13)
c.2163del (p.Asn722IlefsTer13)
c.2088del (p.Asn697IlefsTer13)
c.784+1379del (n.784+1379del)
c.646+1379del (n.646+1379del)
c.1278del (p.Asn427IlefsTer13)
c.2043del (p.Asn682IlefsTer13)
c.2025del (p.Asn676IlefsTer13)
c.664+1379del (n.664+1379del)
c.706+1379del (n.706+1379del)
c.671-2333del (n.671-2333del)
c.*1949del (n.*1949del)
c.787+1379del (n.787+1379del)
c.409+1379del (n.409+1379del)
c.412+1379del (n.412+1379del)
c.5-29414del (n.5-29414del)
c.-43-18844del (n.-43-18844del)
c.-99+31906del (n.-99+31906del)
n.2302del
n.2343del
ClinVar dbSNP
17g.43093365G>ACA500232893BRCA1n.2230C>T
c.2166C>T (p.Val722=)
c.2040C>T (p.Val680=)
c.2163C>T (p.Val721=)
c.2088C>T (p.Val696=)
c.784+1379C>T (n.784+1379C>T)
c.646+1379C>T (n.646+1379C>T)
c.1278C>T (p.Val426=)
c.2043C>T (p.Val681=)
c.2025C>T (p.Val675=)
c.664+1379C>T (n.664+1379C>T)
c.706+1379C>T (n.706+1379C>T)
c.671-2333C>T (n.671-2333C>T)
c.*1949C>T (n.*1949C>T)
c.787+1379C>T (n.787+1379C>T)
c.409+1379C>T (n.409+1379C>T)
c.412+1379C>T (n.412+1379C>T)
c.5-29414C>T (n.5-29414C>T)
c.-43-18844C>T (n.-43-18844C>T)
c.-99+31906C>T (n.-99+31906C>T)
n.2302C>T
n.2343C>T
17g.43093365G>CCA500232895BRCA1n.2230C>G
c.2166C>G (p.Val722=)
c.2040C>G (p.Val680=)
c.2163C>G (p.Val721=)
c.2088C>G (p.Val696=)
c.784+1379C>G (n.784+1379C>G)
c.646+1379C>G (n.646+1379C>G)
c.1278C>G (p.Val426=)
c.2043C>G (p.Val681=)
c.2025C>G (p.Val675=)
c.664+1379C>G (n.664+1379C>G)
c.706+1379C>G (n.706+1379C>G)
c.671-2333C>G (n.671-2333C>G)
c.*1949C>G (n.*1949C>G)
c.787+1379C>G (n.787+1379C>G)
c.409+1379C>G (n.409+1379C>G)
c.412+1379C>G (n.412+1379C>G)
c.5-29414C>G (n.5-29414C>G)
c.-43-18844C>G (n.-43-18844C>G)
c.-99+31906C>G (n.-99+31906C>G)
n.2302C>G
n.2343C>G
17g.43093365G>TCA500232894BRCA1n.2230C>A
c.2166C>A (p.Val722=)
c.2040C>A (p.Val680=)
c.2163C>A (p.Val721=)
c.2088C>A (p.Val696=)
c.784+1379C>A (n.784+1379C>A)
c.646+1379C>A (n.646+1379C>A)
c.1278C>A (p.Val426=)
c.2043C>A (p.Val681=)
c.2025C>A (p.Val675=)
c.664+1379C>A (n.664+1379C>A)
c.706+1379C>A (n.706+1379C>A)
c.671-2333C>A (n.671-2333C>A)
c.*1949C>A (n.*1949C>A)
c.787+1379C>A (n.787+1379C>A)
c.409+1379C>A (n.409+1379C>A)
c.412+1379C>A (n.412+1379C>A)
c.5-29414C>A (n.5-29414C>A)
c.-43-18844C>A (n.-43-18844C>A)
c.-99+31906C>A (n.-99+31906C>A)
n.2302C>A
n.2343C>A
17g.43093366A=CA2260783886BRCA1n.2229T=
c.2165T= (p.Val722=)
c.2039T= (p.Val680=)
c.2162T= (p.Val721=)
c.2087T= (p.Val696=)
c.784+1378T= (n.784+1378T=)
c.646+1378T= (n.646+1378T=)
c.1277T= (p.Val426=)
c.2042T= (p.Val681=)
c.2024T= (p.Val675=)
c.664+1378T= (n.664+1378T=)
c.706+1378T= (n.706+1378T=)
c.671-2334T= (n.671-2334T=)
c.*1948T= (n.*1948T=)
c.787+1378T= (n.787+1378T=)
c.409+1378T= (n.409+1378T=)
c.412+1378T= (n.412+1378T=)
c.5-29415T= (n.5-29415T=)
c.-43-18845T= (n.-43-18845T=)
c.-99+31905T= (n.-99+31905T=)
n.2301T=
n.2342T=
17g.43093366A>CCA10597671BRCA1n.2229T>G
c.2165T>G (p.Val722Gly)
c.2039T>G (p.Val680Gly)
c.2162T>G (p.Val721Gly)
c.2087T>G (p.Val696Gly)
c.784+1378T>G (n.784+1378T>G)
c.646+1378T>G (n.646+1378T>G)
c.1277T>G (p.Val426Gly)
c.2042T>G (p.Val681Gly)
c.2024T>G (p.Val675Gly)
c.664+1378T>G (n.664+1378T>G)
c.706+1378T>G (n.706+1378T>G)
c.671-2334T>G (n.671-2334T>G)
c.*1948T>G (n.*1948T>G)
c.787+1378T>G (n.787+1378T>G)
c.409+1378T>G (n.409+1378T>G)
c.412+1378T>G (n.412+1378T>G)
c.5-29415T>G (n.5-29415T>G)
c.-43-18845T>G (n.-43-18845T>G)
c.-99+31905T>G (n.-99+31905T>G)
n.2301T>G
n.2342T>G
dbSNP
17g.43093366A>GCA10597672BRCA1n.2229T>C
c.2165T>C (p.Val722Ala)
c.2039T>C (p.Val680Ala)
c.2162T>C (p.Val721Ala)
c.2087T>C (p.Val696Ala)
c.784+1378T>C (n.784+1378T>C)
c.646+1378T>C (n.646+1378T>C)
c.1277T>C (p.Val426Ala)
c.2042T>C (p.Val681Ala)
c.2024T>C (p.Val675Ala)
c.664+1378T>C (n.664+1378T>C)
c.706+1378T>C (n.706+1378T>C)
c.671-2334T>C (n.671-2334T>C)
c.*1948T>C (n.*1948T>C)
c.787+1378T>C (n.787+1378T>C)
c.409+1378T>C (n.409+1378T>C)
c.412+1378T>C (n.412+1378T>C)
c.5-29415T>C (n.5-29415T>C)
c.-43-18845T>C (n.-43-18845T>C)
c.-99+31905T>C (n.-99+31905T>C)
n.2301T>C
n.2342T>C
ClinVar dbSNP
17g.43093366A>TCA10597673BRCA1n.2229T>A
c.2165T>A (p.Val722Asp)
c.2039T>A (p.Val680Asp)
c.2162T>A (p.Val721Asp)
c.2087T>A (p.Val696Asp)
c.784+1378T>A (n.784+1378T>A)
c.646+1378T>A (n.646+1378T>A)
c.1277T>A (p.Val426Asp)
c.2042T>A (p.Val681Asp)
c.2024T>A (p.Val675Asp)
c.664+1378T>A (n.664+1378T>A)
c.706+1378T>A (n.706+1378T>A)
c.671-2334T>A (n.671-2334T>A)
c.*1948T>A (n.*1948T>A)
c.787+1378T>A (n.787+1378T>A)
c.409+1378T>A (n.409+1378T>A)
c.412+1378T>A (n.412+1378T>A)
c.5-29415T>A (n.5-29415T>A)
c.-43-18845T>A (n.-43-18845T>A)
c.-99+31905T>A (n.-99+31905T>A)
n.2301T>A
n.2342T>A
dbSNP
17g.43093366_43093367delinsACCA2260783885BRCA1n.2228_2229delinsGT
c.2164_2165delinsGT (p.Val722=)
c.2038_2039delinsGT (p.Val680=)
c.2161_2162delinsGT (p.Val721=)
c.2086_2087delinsGT (p.Val696=)
c.784+1377_784+1378delinsGT (n.784+1377_784+1378delinsGT)
c.646+1377_646+1378delinsGT (n.646+1377_646+1378delinsGT)
c.1276_1277delinsGT (p.Val426=)
c.2041_2042delinsGT (p.Val681=)
c.2023_2024delinsGT (p.Val675=)
c.664+1377_664+1378delinsGT (n.664+1377_664+1378delinsGT)
c.706+1377_706+1378delinsGT (n.706+1377_706+1378delinsGT)
c.671-2335_671-2334delinsGT (n.671-2335_671-2334delinsGT)
c.*1947_*1948delinsGT (n.*1947_*1948delinsGT)
c.787+1377_787+1378delinsGT (n.787+1377_787+1378delinsGT)
c.409+1377_409+1378delinsGT (n.409+1377_409+1378delinsGT)
c.412+1377_412+1378delinsGT (n.412+1377_412+1378delinsGT)
c.5-29416_5-29415delinsGT (n.5-29416_5-29415delinsGT)
c.-43-18846_-43-18845delinsGT (n.-43-18846_-43-18845delinsGT)
c.-99+31904_-99+31905delinsGT (n.-99+31904_-99+31905delinsGT)
n.2300_2301delinsGT
n.2341_2342delinsGT
17g.43093367_43093370delCA2499224518BRCA1n.2226_2229del
c.2162_2165del (p.Phe721SerfsTer14)
c.2036_2039del (p.Phe679SerfsTer14)
c.2159_2162del (p.Phe720SerfsTer14)
c.2084_2087del (p.Phe695SerfsTer14)
c.784+1375_784+1378del (n.784+1375_784+1378del)
c.646+1375_646+1378del (n.646+1375_646+1378del)
c.1274_1277del (p.Phe425SerfsTer14)
c.2039_2042del (p.Phe680SerfsTer14)
c.2021_2024del (p.Phe674SerfsTer14)
c.664+1375_664+1378del (n.664+1375_664+1378del)
c.706+1375_706+1378del (n.706+1375_706+1378del)
c.671-2337_671-2334del (n.671-2337_671-2334del)
c.*1945_*1948del (n.*1945_*1948del)
c.787+1375_787+1378del (n.787+1375_787+1378del)
c.409+1375_409+1378del (n.409+1375_409+1378del)
c.412+1375_412+1378del (n.412+1375_412+1378del)
c.5-29418_5-29415del (n.5-29418_5-29415del)
c.-43-18848_-43-18845del (n.-43-18848_-43-18845del)
c.-99+31902_-99+31905del (n.-99+31902_-99+31905del)
n.2298_2301del
n.2339_2342del
ClinVar dbSNP
17g.43093367delCA658656731BRCA1n.2228del
c.2164del (p.Val722SerfsTer14)
c.2038del (p.Val680SerfsTer14)
c.2161del (p.Val721SerfsTer14)
c.2086del (p.Val696SerfsTer14)
c.784+1377del (n.784+1377del)
c.646+1377del (n.646+1377del)
c.1276del (p.Val426SerfsTer14)
c.2041del (p.Val681SerfsTer14)
c.2023del (p.Val675SerfsTer14)
c.664+1377del (n.664+1377del)
c.706+1377del (n.706+1377del)
c.671-2335del (n.671-2335del)
c.*1947del (n.*1947del)
c.787+1377del (n.787+1377del)
c.409+1377del (n.409+1377del)
c.412+1377del (n.412+1377del)
c.5-29416del (n.5-29416del)
c.-43-18846del (n.-43-18846del)
c.-99+31904del (n.-99+31904del)
n.2300del
n.2341del
ClinVar dbSNP
17g.43093367C>ACA10597674BRCA1n.2228G>T
c.2164G>T (p.Val722Phe)
c.2038G>T (p.Val680Phe)
c.2161G>T (p.Val721Phe)
c.2086G>T (p.Val696Phe)
c.784+1377G>T (n.784+1377G>T)
c.646+1377G>T (n.646+1377G>T)
c.1276G>T (p.Val426Phe)
c.2041G>T (p.Val681Phe)
c.2023G>T (p.Val675Phe)
c.664+1377G>T (n.664+1377G>T)
c.706+1377G>T (n.706+1377G>T)
c.671-2335G>T (n.671-2335G>T)
c.*1947G>T (n.*1947G>T)
c.787+1377G>T (n.787+1377G>T)
c.409+1377G>T (n.409+1377G>T)
c.412+1377G>T (n.412+1377G>T)
c.5-29416G>T (n.5-29416G>T)
c.-43-18846G>T (n.-43-18846G>T)
c.-99+31904G>T (n.-99+31904G>T)
n.2300G>T
n.2341G>T
ClinVar dbSNP gnomAD v4
17g.43093367C=CA2260783889BRCA1n.2228G=
c.2164G= (p.Val722=)
c.2038G= (p.Val680=)
c.2161G= (p.Val721=)
c.2086G= (p.Val696=)
c.784+1377G= (n.784+1377G=)
c.646+1377G= (n.646+1377G=)
c.1276G= (p.Val426=)
c.2041G= (p.Val681=)
c.2023G= (p.Val675=)
c.664+1377G= (n.664+1377G=)
c.706+1377G= (n.706+1377G=)
c.671-2335G= (n.671-2335G=)
c.*1947G= (n.*1947G=)
c.787+1377G= (n.787+1377G=)
c.409+1377G= (n.409+1377G=)
c.412+1377G= (n.412+1377G=)
c.5-29416G= (n.5-29416G=)
c.-43-18846G= (n.-43-18846G=)
c.-99+31904G= (n.-99+31904G=)
n.2300G=
n.2341G=
17g.43093367C>GCA10597675BRCA1n.2228G>C
c.2164G>C (p.Val722Leu)
c.2038G>C (p.Val680Leu)
c.2161G>C (p.Val721Leu)
c.2086G>C (p.Val696Leu)
c.784+1377G>C (n.784+1377G>C)
c.646+1377G>C (n.646+1377G>C)
c.1276G>C (p.Val426Leu)
c.2041G>C (p.Val681Leu)
c.2023G>C (p.Val675Leu)
c.664+1377G>C (n.664+1377G>C)
c.706+1377G>C (n.706+1377G>C)
c.671-2335G>C (n.671-2335G>C)
c.*1947G>C (n.*1947G>C)
c.787+1377G>C (n.787+1377G>C)
c.409+1377G>C (n.409+1377G>C)
c.412+1377G>C (n.412+1377G>C)
c.5-29416G>C (n.5-29416G>C)
c.-43-18846G>C (n.-43-18846G>C)
c.-99+31904G>C (n.-99+31904G>C)
n.2300G>C
n.2341G>C
17g.43093367C>TCA10597676BRCA1n.2228G>A
c.2164G>A (p.Val722Ile)
c.2038G>A (p.Val680Ile)
c.2161G>A (p.Val721Ile)
c.2086G>A (p.Val696Ile)
c.784+1377G>A (n.784+1377G>A)
c.646+1377G>A (n.646+1377G>A)
c.1276G>A (p.Val426Ile)
c.2041G>A (p.Val681Ile)
c.2023G>A (p.Val675Ile)
c.664+1377G>A (n.664+1377G>A)
c.706+1377G>A (n.706+1377G>A)
c.671-2335G>A (n.671-2335G>A)
c.*1947G>A (n.*1947G>A)
c.787+1377G>A (n.787+1377G>A)
c.409+1377G>A (n.409+1377G>A)
c.412+1377G>A (n.412+1377G>A)
c.5-29416G>A (n.5-29416G>A)
c.-43-18846G>A (n.-43-18846G>A)
c.-99+31904G>A (n.-99+31904G>A)
n.2300G>A
n.2341G>A
17g.43093367_43093369delinsCAACA2260783888BRCA1n.2226_2228delinsTTG
c.2162_2164delinsTTG (p.Phe721=)
c.2036_2038delinsTTG (p.Phe679=)
c.2159_2161delinsTTG (p.Phe720=)
c.2084_2086delinsTTG (p.Phe695=)
c.784+1375_784+1377delinsTTG (n.784+1375_784+1377delinsTTG)
c.646+1375_646+1377delinsTTG (n.646+1375_646+1377delinsTTG)
c.1274_1276delinsTTG (p.Phe425=)
c.2039_2041delinsTTG (p.Phe680=)
c.2021_2023delinsTTG (p.Phe674=)
c.664+1375_664+1377delinsTTG (n.664+1375_664+1377delinsTTG)
c.706+1375_706+1377delinsTTG (n.706+1375_706+1377delinsTTG)
c.671-2337_671-2335delinsTTG (n.671-2337_671-2335delinsTTG)
c.*1945_*1947delinsTTG (n.*1945_*1947delinsTTG)
c.787+1375_787+1377delinsTTG (n.787+1375_787+1377delinsTTG)
c.409+1375_409+1377delinsTTG (n.409+1375_409+1377delinsTTG)
c.412+1375_412+1377delinsTTG (n.412+1375_412+1377delinsTTG)
c.5-29418_5-29416delinsTTG (n.5-29418_5-29416delinsTTG)
c.-43-18848_-43-18846delinsTTG (n.-43-18848_-43-18846delinsTTG)
c.-99+31902_-99+31904delinsTTG (n.-99+31902_-99+31904delinsTTG)
n.2298_2300delinsTTG
n.2339_2341delinsTTG
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

Number of alleles fetched