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.43093448_43093463delinsCGCTGTCATGTCTTTTCA2260783975BRCA1n.2132_2147delinsAAAAGACATGACAGCG
c.2068_2083delinsAAAAGACATGACAGCG (p.Lys690=)
c.1942_1957delinsAAAAGACATGACAGCG (p.Lys648=)
c.2065_2080delinsAAAAGACATGACAGCG (p.Lys689=)
c.1990_2005delinsAAAAGACATGACAGCG (p.Lys664=)
c.784+1281_784+1296delinsAAAAGACATGACAGCG (n.784+1281_784+1296delinsAAAAGACATGACAGCG)
c.646+1281_646+1296delinsAAAAGACATGACAGCG (n.646+1281_646+1296delinsAAAAGACATGACAGCG)
c.1180_1195delinsAAAAGACATGACAGCG (p.Lys394=)
c.1945_1960delinsAAAAGACATGACAGCG (p.Lys649=)
c.1927_1942delinsAAAAGACATGACAGCG (p.Lys643=)
c.664+1281_664+1296delinsAAAAGACATGACAGCG (n.664+1281_664+1296delinsAAAAGACATGACAGCG)
c.706+1281_706+1296delinsAAAAGACATGACAGCG (n.706+1281_706+1296delinsAAAAGACATGACAGCG)
c.670+2383_670+2398delinsAAAAGACATGACAGCG (n.670+2383_670+2398delinsAAAAGACATGACAGCG)
c.*1851_*1866delinsAAAAGACATGACAGCG (n.*1851_*1866delinsAAAAGACATGACAGCG)
c.787+1281_787+1296delinsAAAAGACATGACAGCG (n.787+1281_787+1296delinsAAAAGACATGACAGCG)
c.409+1281_409+1296delinsAAAAGACATGACAGCG (n.409+1281_409+1296delinsAAAAGACATGACAGCG)
c.412+1281_412+1296delinsAAAAGACATGACAGCG (n.412+1281_412+1296delinsAAAAGACATGACAGCG)
c.5-29512_5-29497delinsAAAAGACATGACAGCG (n.5-29512_5-29497delinsAAAAGACATGACAGCG)
c.-43-18942_-43-18927delinsAAAAGACATGACAGCG (n.-43-18942_-43-18927delinsAAAAGACATGACAGCG)
c.-99+31808_-99+31823delinsAAAAGACATGACAGCG (n.-99+31808_-99+31823delinsAAAAGACATGACAGCG)
n.2204_2219delinsAAAAGACATGACAGCG
n.2245_2260delinsAAAAGACATGACAGCG
17g.43093449_43093463delCA658684108BRCA1n.2132_2146del
c.2068_2082del (p.Lys690_Ser694del)
c.1942_1956del (p.Lys648_Ser652del)
c.2065_2079del (p.Lys689_Ser693del)
c.1990_2004del (p.Lys664_Ser668del)
c.784+1281_784+1295del (n.784+1281_784+1295del)
c.646+1281_646+1295del (n.646+1281_646+1295del)
c.1180_1194del (p.Lys394_Ser398del)
c.1945_1959del (p.Lys649_Ser653del)
c.1927_1941del (p.Lys643_Ser647del)
c.664+1281_664+1295del (n.664+1281_664+1295del)
c.706+1281_706+1295del (n.706+1281_706+1295del)
c.670+2383_670+2397del (n.670+2383_670+2397del)
c.*1851_*1865del (n.*1851_*1865del)
c.787+1281_787+1295del (n.787+1281_787+1295del)
c.409+1281_409+1295del (n.409+1281_409+1295del)
c.412+1281_412+1295del (n.412+1281_412+1295del)
c.5-29512_5-29498del (n.5-29512_5-29498del)
c.-43-18942_-43-18928del (n.-43-18942_-43-18928del)
c.-99+31808_-99+31822del (n.-99+31808_-99+31822del)
n.2204_2218del
n.2245_2259del
 ClinVar dbSNP
17g.43093461_43093471delCA2580094092BRCA1n.2129_2139del
c.2065_2075del (p.Ser689Ter)
c.1939_1949del (p.Ser647Ter)
c.2062_2072del (p.Ser688Ter)
c.1987_1997del (p.Ser663Ter)
c.784+1278_784+1288del (n.784+1278_784+1288del)
c.646+1278_646+1288del (n.646+1278_646+1288del)
c.1177_1187del (p.Ser393Ter)
c.1942_1952del (p.Ser648Ter)
c.1924_1934del (p.Ser642Ter)
c.664+1278_664+1288del (n.664+1278_664+1288del)
c.706+1278_706+1288del (n.706+1278_706+1288del)
c.670+2380_670+2390del (n.670+2380_670+2390del)
c.*1848_*1858del (n.*1848_*1858del)
c.787+1278_787+1288del (n.787+1278_787+1288del)
c.409+1278_409+1288del (n.409+1278_409+1288del)
c.412+1278_412+1288del (n.412+1278_412+1288del)
c.5-29515_5-29505del (n.5-29515_5-29505del)
c.-43-18945_-43-18935del (n.-43-18945_-43-18935del)
c.-99+31805_-99+31815del (n.-99+31805_-99+31815del)
n.2201_2211del
n.2242_2252del
 ClinVar
17g.43093459_43093461delinsCTTCA2260783992BRCA1n.2134_2136delinsAAG
c.2070_2072delinsAAG (p.Lys690=)
c.1944_1946delinsAAG (p.Lys648=)
c.2067_2069delinsAAG (p.Lys689=)
c.1992_1994delinsAAG (p.Lys664=)
c.784+1283_784+1285delinsAAG (n.784+1283_784+1285delinsAAG)
c.646+1283_646+1285delinsAAG (n.646+1283_646+1285delinsAAG)
c.1182_1184delinsAAG (p.Lys394=)
c.1947_1949delinsAAG (p.Lys649=)
c.1929_1931delinsAAG (p.Lys643=)
c.664+1283_664+1285delinsAAG (n.664+1283_664+1285delinsAAG)
c.706+1283_706+1285delinsAAG (n.706+1283_706+1285delinsAAG)
c.670+2385_670+2387delinsAAG (n.670+2385_670+2387delinsAAG)
c.*1853_*1855delinsAAG (n.*1853_*1855delinsAAG)
c.787+1283_787+1285delinsAAG (n.787+1283_787+1285delinsAAG)
c.409+1283_409+1285delinsAAG (n.409+1283_409+1285delinsAAG)
c.412+1283_412+1285delinsAAG (n.412+1283_412+1285delinsAAG)
c.5-29510_5-29508delinsAAG (n.5-29510_5-29508delinsAAG)
c.-43-18940_-43-18938delinsAAG (n.-43-18940_-43-18938delinsAAG)
c.-99+31810_-99+31812delinsAAG (n.-99+31810_-99+31812delinsAAG)
n.2206_2208delinsAAG
n.2247_2249delinsAAG
17g.43093460T>ACA10597860BRCA1n.2135A>T
c.2071A>T (p.Arg691Ter)
c.1945A>T (p.Arg649Ter)
c.2068A>T (p.Arg690Ter)
c.1993A>T (p.Arg665Ter)
c.784+1284A>T (n.784+1284A>T)
c.646+1284A>T (n.646+1284A>T)
c.1183A>T (p.Arg395Ter)
c.1948A>T (p.Arg650Ter)
c.1930A>T (p.Arg644Ter)
c.664+1284A>T (n.664+1284A>T)
c.706+1284A>T (n.706+1284A>T)
c.670+2386A>T (n.670+2386A>T)
c.*1854A>T (n.*1854A>T)
c.787+1284A>T (n.787+1284A>T)
c.409+1284A>T (n.409+1284A>T)
c.412+1284A>T (n.412+1284A>T)
c.5-29509A>T (n.5-29509A>T)
c.-43-18939A>T (n.-43-18939A>T)
c.-99+31811A>T (n.-99+31811A>T)
n.2207A>T
n.2248A>T
 dbSNP
17g.43093460T>CCA10597861BRCA1n.2135A>G
c.2071A>G (p.Arg691Gly)
c.1945A>G (p.Arg649Gly)
c.2068A>G (p.Arg690Gly)
c.1993A>G (p.Arg665Gly)
c.784+1284A>G (n.784+1284A>G)
c.646+1284A>G (n.646+1284A>G)
c.1183A>G (p.Arg395Gly)
c.1948A>G (p.Arg650Gly)
c.1930A>G (p.Arg644Gly)
c.664+1284A>G (n.664+1284A>G)
c.706+1284A>G (n.706+1284A>G)
c.670+2386A>G (n.670+2386A>G)
c.*1854A>G (n.*1854A>G)
c.787+1284A>G (n.787+1284A>G)
c.409+1284A>G (n.409+1284A>G)
c.412+1284A>G (n.412+1284A>G)
c.5-29509A>G (n.5-29509A>G)
c.-43-18939A>G (n.-43-18939A>G)
c.-99+31811A>G (n.-99+31811A>G)
n.2207A>G
n.2248A>G
 ClinVar dbSNP
17g.43093460T>GCA500232962BRCA1n.2135A>C
c.2071A>C (p.Arg691=)
c.1945A>C (p.Arg649=)
c.2068A>C (p.Arg690=)
c.1993A>C (p.Arg665=)
c.784+1284A>C (n.784+1284A>C)
c.646+1284A>C (n.646+1284A>C)
c.1183A>C (p.Arg395=)
c.1948A>C (p.Arg650=)
c.1930A>C (p.Arg644=)
c.664+1284A>C (n.664+1284A>C)
c.706+1284A>C (n.706+1284A>C)
c.670+2386A>C (n.670+2386A>C)
c.*1854A>C (n.*1854A>C)
c.787+1284A>C (n.787+1284A>C)
c.409+1284A>C (n.409+1284A>C)
c.412+1284A>C (n.412+1284A>C)
c.5-29509A>C (n.5-29509A>C)
c.-43-18939A>C (n.-43-18939A>C)
c.-99+31811A>C (n.-99+31811A>C)
n.2207A>C
n.2248A>C
17g.43093460T=CA2260783994BRCA1n.2135A=
c.2071A= (p.Arg691=)
c.1945A= (p.Arg649=)
c.2068A= (p.Arg690=)
c.1993A= (p.Arg665=)
c.784+1284A= (n.784+1284A=)
c.646+1284A= (n.646+1284A=)
c.1183A= (p.Arg395=)
c.1948A= (p.Arg650=)
c.1930A= (p.Arg644=)
c.664+1284A= (n.664+1284A=)
c.706+1284A= (n.706+1284A=)
c.670+2386A= (n.670+2386A=)
c.*1854A= (n.*1854A=)
c.787+1284A= (n.787+1284A=)
c.409+1284A= (n.409+1284A=)
c.412+1284A= (n.412+1284A=)
c.5-29509A= (n.5-29509A=)
c.-43-18939A= (n.-43-18939A=)
c.-99+31811A= (n.-99+31811A=)
n.2207A=
n.2248A=
17g.43093463delCA001367BRCA1n.2135del
c.2071del (p.Arg691AspfsTer10)
c.1945del (p.Arg649AspfsTer10)
c.2068del (p.Arg690AspfsTer10)
c.1993del (p.Arg665AspfsTer10)
c.784+1284del (n.784+1284del)
c.646+1284del (n.646+1284del)
c.1183del (p.Arg395AspfsTer10)
c.1948del (p.Arg650AspfsTer10)
c.1930del (p.Arg644AspfsTer10)
c.664+1284del (n.664+1284del)
c.706+1284del (n.706+1284del)
c.670+2386del (n.670+2386del)
c.*1854del (n.*1854del)
c.787+1284del (n.787+1284del)
c.409+1284del (n.409+1284del)
c.412+1284del (n.412+1284del)
c.5-29509del (n.5-29509del)
c.-43-18939del (n.-43-18939del)
c.-99+31811del (n.-99+31811del)
n.2207del
n.2248del
 ClinVar dbSNP gnomAD v4
17g.43093462_43093463delCA001370BRCA1n.2134_2135del
c.2070_2071del (p.Arg691ThrfsTer2)
c.1944_1945del (p.Arg649ThrfsTer2)
c.2067_2068del (p.Arg690ThrfsTer2)
c.1992_1993del (p.Arg665ThrfsTer2)
c.784+1283_784+1284del (n.784+1283_784+1284del)
c.646+1283_646+1284del (n.646+1283_646+1284del)
c.1182_1183del (p.Arg395ThrfsTer2)
c.1947_1948del (p.Arg650ThrfsTer2)
c.1929_1930del (p.Arg644ThrfsTer2)
c.664+1283_664+1284del (n.664+1283_664+1284del)
c.706+1283_706+1284del (n.706+1283_706+1284del)
c.670+2385_670+2386del (n.670+2385_670+2386del)
c.*1853_*1854del (n.*1853_*1854del)
c.787+1283_787+1284del (n.787+1283_787+1284del)
c.409+1283_409+1284del (n.409+1283_409+1284del)
c.412+1283_412+1284del (n.412+1283_412+1284del)
c.5-29510_5-29509del (n.5-29510_5-29509del)
c.-43-18940_-43-18939del (n.-43-18940_-43-18939del)
c.-99+31810_-99+31811del (n.-99+31810_-99+31811del)
n.2206_2207del
n.2247_2248del
 ClinVar dbSNP
17g.43093461T>ACA10597862BRCA1n.2134A>T
c.2070A>T (p.Lys690Asn)
c.1944A>T (p.Lys648Asn)
c.2067A>T (p.Lys689Asn)
c.1992A>T (p.Lys664Asn)
c.784+1283A>T (n.784+1283A>T)
c.646+1283A>T (n.646+1283A>T)
c.1182A>T (p.Lys394Asn)
c.1947A>T (p.Lys649Asn)
c.1929A>T (p.Lys643Asn)
c.664+1283A>T (n.664+1283A>T)
c.706+1283A>T (n.706+1283A>T)
c.670+2385A>T (n.670+2385A>T)
c.*1853A>T (n.*1853A>T)
c.787+1283A>T (n.787+1283A>T)
c.409+1283A>T (n.409+1283A>T)
c.412+1283A>T (n.412+1283A>T)
c.5-29510A>T (n.5-29510A>T)
c.-43-18940A>T (n.-43-18940A>T)
c.-99+31810A>T (n.-99+31810A>T)
n.2206A>T
n.2247A>T
17g.43093461T>CCA500232963BRCA1n.2134A>G
c.2070A>G (p.Lys690=)
c.1944A>G (p.Lys648=)
c.2067A>G (p.Lys689=)
c.1992A>G (p.Lys664=)
c.784+1283A>G (n.784+1283A>G)
c.646+1283A>G (n.646+1283A>G)
c.1182A>G (p.Lys394=)
c.1947A>G (p.Lys649=)
c.1929A>G (p.Lys643=)
c.664+1283A>G (n.664+1283A>G)
c.706+1283A>G (n.706+1283A>G)
c.670+2385A>G (n.670+2385A>G)
c.*1853A>G (n.*1853A>G)
c.787+1283A>G (n.787+1283A>G)
c.409+1283A>G (n.409+1283A>G)
c.412+1283A>G (n.412+1283A>G)
c.5-29510A>G (n.5-29510A>G)
c.-43-18940A>G (n.-43-18940A>G)
c.-99+31810A>G (n.-99+31810A>G)
n.2206A>G
n.2247A>G
 ClinVar dbSNP
17g.43093461T>GCA10597863BRCA1n.2134A>C
c.2070A>C (p.Lys690Asn)
c.1944A>C (p.Lys648Asn)
c.2067A>C (p.Lys689Asn)
c.1992A>C (p.Lys664Asn)
c.784+1283A>C (n.784+1283A>C)
c.646+1283A>C (n.646+1283A>C)
c.1182A>C (p.Lys394Asn)
c.1947A>C (p.Lys649Asn)
c.1929A>C (p.Lys643Asn)
c.664+1283A>C (n.664+1283A>C)
c.706+1283A>C (n.706+1283A>C)
c.670+2385A>C (n.670+2385A>C)
c.*1853A>C (n.*1853A>C)
c.787+1283A>C (n.787+1283A>C)
c.409+1283A>C (n.409+1283A>C)
c.412+1283A>C (n.412+1283A>C)
c.5-29510A>C (n.5-29510A>C)
c.-43-18940A>C (n.-43-18940A>C)
c.-99+31810A>C (n.-99+31810A>C)
n.2206A>C
n.2247A>C
17g.43093461T=CA2260783996BRCA1n.2134A=
c.2070A= (p.Lys690=)
c.1944A= (p.Lys648=)
c.2067A= (p.Lys689=)
c.1992A= (p.Lys664=)
c.784+1283A= (n.784+1283A=)
c.646+1283A= (n.646+1283A=)
c.1182A= (p.Lys394=)
c.1947A= (p.Lys649=)
c.1929A= (p.Lys643=)
c.664+1283A= (n.664+1283A=)
c.706+1283A= (n.706+1283A=)
c.670+2385A= (n.670+2385A=)
c.*1853A= (n.*1853A=)
c.787+1283A= (n.787+1283A=)
c.409+1283A= (n.409+1283A=)
c.412+1283A= (n.412+1283A=)
c.5-29510A= (n.5-29510A=)
c.-43-18940A= (n.-43-18940A=)
c.-99+31810A= (n.-99+31810A=)
n.2206A=
n.2247A=
17g.43093461_43093465delinsTTTACCA2260783995BRCA1n.2130_2134delinsGTAAA
c.2066_2070delinsGTAAA (p.Ser689=)
c.1940_1944delinsGTAAA (p.Ser647=)
c.2063_2067delinsGTAAA (p.Ser688=)
c.1988_1992delinsGTAAA (p.Ser663=)
c.784+1279_784+1283delinsGTAAA (n.784+1279_784+1283delinsGTAAA)
c.646+1279_646+1283delinsGTAAA (n.646+1279_646+1283delinsGTAAA)
c.1178_1182delinsGTAAA (p.Ser393=)
c.1943_1947delinsGTAAA (p.Ser648=)
c.1925_1929delinsGTAAA (p.Ser642=)
c.664+1279_664+1283delinsGTAAA (n.664+1279_664+1283delinsGTAAA)
c.706+1279_706+1283delinsGTAAA (n.706+1279_706+1283delinsGTAAA)
c.670+2381_670+2385delinsGTAAA (n.670+2381_670+2385delinsGTAAA)
c.*1849_*1853delinsGTAAA (n.*1849_*1853delinsGTAAA)
c.787+1279_787+1283delinsGTAAA (n.787+1279_787+1283delinsGTAAA)
c.409+1279_409+1283delinsGTAAA (n.409+1279_409+1283delinsGTAAA)
c.412+1279_412+1283delinsGTAAA (n.412+1279_412+1283delinsGTAAA)
c.5-29514_5-29510delinsGTAAA (n.5-29514_5-29510delinsGTAAA)
c.-43-18944_-43-18940delinsGTAAA (n.-43-18944_-43-18940delinsGTAAA)
c.-99+31806_-99+31810delinsGTAAA (n.-99+31806_-99+31810delinsGTAAA)
n.2202_2206delinsGTAAA
n.2243_2247delinsGTAAA
17g.43093462T>ACA10597864BRCA1n.2133A>T
c.2069A>T (p.Lys690Ile)
c.1943A>T (p.Lys648Ile)
c.2066A>T (p.Lys689Ile)
c.1991A>T (p.Lys664Ile)
c.784+1282A>T (n.784+1282A>T)
c.646+1282A>T (n.646+1282A>T)
c.1181A>T (p.Lys394Ile)
c.1946A>T (p.Lys649Ile)
c.1928A>T (p.Lys643Ile)
c.664+1282A>T (n.664+1282A>T)
c.706+1282A>T (n.706+1282A>T)
c.670+2384A>T (n.670+2384A>T)
c.*1852A>T (n.*1852A>T)
c.787+1282A>T (n.787+1282A>T)
c.409+1282A>T (n.409+1282A>T)
c.412+1282A>T (n.412+1282A>T)
c.5-29511A>T (n.5-29511A>T)
c.-43-18941A>T (n.-43-18941A>T)
c.-99+31809A>T (n.-99+31809A>T)
n.2205A>T
n.2246A>T
 dbSNP
17g.43093462T>CCA10597865BRCA1n.2133A>G
c.2069A>G (p.Lys690Arg)
c.1943A>G (p.Lys648Arg)
c.2066A>G (p.Lys689Arg)
c.1991A>G (p.Lys664Arg)
c.784+1282A>G (n.784+1282A>G)
c.646+1282A>G (n.646+1282A>G)
c.1181A>G (p.Lys394Arg)
c.1946A>G (p.Lys649Arg)
c.1928A>G (p.Lys643Arg)
c.664+1282A>G (n.664+1282A>G)
c.706+1282A>G (n.706+1282A>G)
c.670+2384A>G (n.670+2384A>G)
c.*1852A>G (n.*1852A>G)
c.787+1282A>G (n.787+1282A>G)
c.409+1282A>G (n.409+1282A>G)
c.412+1282A>G (n.412+1282A>G)
c.5-29511A>G (n.5-29511A>G)
c.-43-18941A>G (n.-43-18941A>G)
c.-99+31809A>G (n.-99+31809A>G)
n.2205A>G
n.2246A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43093462T>GCA10597866BRCA1n.2133A>C
c.2069A>C (p.Lys690Thr)
c.1943A>C (p.Lys648Thr)
c.2066A>C (p.Lys689Thr)
c.1991A>C (p.Lys664Thr)
c.784+1282A>C (n.784+1282A>C)
c.646+1282A>C (n.646+1282A>C)
c.1181A>C (p.Lys394Thr)
c.1946A>C (p.Lys649Thr)
c.1928A>C (p.Lys643Thr)
c.664+1282A>C (n.664+1282A>C)
c.706+1282A>C (n.706+1282A>C)
c.670+2384A>C (n.670+2384A>C)
c.*1852A>C (n.*1852A>C)
c.787+1282A>C (n.787+1282A>C)
c.409+1282A>C (n.409+1282A>C)
c.412+1282A>C (n.412+1282A>C)
c.5-29511A>C (n.5-29511A>C)
c.-43-18941A>C (n.-43-18941A>C)
c.-99+31809A>C (n.-99+31809A>C)
n.2205A>C
n.2246A>C
17g.43093464_43093467delCA10586652BRCA1n.2130_2133del
c.2066_2069del (p.Ser689LysfsTer11)
c.1940_1943del (p.Ser647LysfsTer11)
c.2063_2066del (p.Ser688LysfsTer11)
c.1988_1991del (p.Ser663LysfsTer11)
c.784+1279_784+1282del (n.784+1279_784+1282del)
c.646+1279_646+1282del (n.646+1279_646+1282del)
c.1178_1181del (p.Ser393LysfsTer11)
c.1943_1946del (p.Ser648LysfsTer11)
c.1925_1928del (p.Ser642LysfsTer11)
c.664+1279_664+1282del (n.664+1279_664+1282del)
c.706+1279_706+1282del (n.706+1279_706+1282del)
c.670+2381_670+2384del (n.670+2381_670+2384del)
c.*1849_*1852del (n.*1849_*1852del)
c.787+1279_787+1282del (n.787+1279_787+1282del)
c.409+1279_409+1282del (n.409+1279_409+1282del)
c.412+1279_412+1282del (n.412+1279_412+1282del)
c.5-29514_5-29511del (n.5-29514_5-29511del)
c.-43-18944_-43-18941del (n.-43-18944_-43-18941del)
c.-99+31806_-99+31809del (n.-99+31806_-99+31809del)
n.2202_2205del
n.2243_2246del
 ClinVar dbSNP
17g.43093463T>ACA10589900BRCA1n.2132A>T
c.2068A>T (p.Lys690Ter)
c.1942A>T (p.Lys648Ter)
c.2065A>T (p.Lys689Ter)
c.1990A>T (p.Lys664Ter)
c.784+1281A>T (n.784+1281A>T)
c.646+1281A>T (n.646+1281A>T)
c.1180A>T (p.Lys394Ter)
c.1945A>T (p.Lys649Ter)
c.1927A>T (p.Lys643Ter)
c.664+1281A>T (n.664+1281A>T)
c.706+1281A>T (n.706+1281A>T)
c.670+2383A>T (n.670+2383A>T)
c.*1851A>T (n.*1851A>T)
c.787+1281A>T (n.787+1281A>T)
c.409+1281A>T (n.409+1281A>T)
c.412+1281A>T (n.412+1281A>T)
c.5-29512A>T (n.5-29512A>T)
c.-43-18942A>T (n.-43-18942A>T)
c.-99+31808A>T (n.-99+31808A>T)
n.2204A>T
n.2245A>T
 ClinVar dbSNP
17g.43093463T>CCA001366BRCA1n.2132A>G
c.2068A>G (p.Lys690Glu)
c.1942A>G (p.Lys648Glu)
c.2065A>G (p.Lys689Glu)
c.1990A>G (p.Lys664Glu)
c.784+1281A>G (n.784+1281A>G)
c.646+1281A>G (n.646+1281A>G)
c.1180A>G (p.Lys394Glu)
c.1945A>G (p.Lys649Glu)
c.1927A>G (p.Lys643Glu)
c.664+1281A>G (n.664+1281A>G)
c.706+1281A>G (n.706+1281A>G)
c.670+2383A>G (n.670+2383A>G)
c.*1851A>G (n.*1851A>G)
c.787+1281A>G (n.787+1281A>G)
c.409+1281A>G (n.409+1281A>G)
c.412+1281A>G (n.412+1281A>G)
c.5-29512A>G (n.5-29512A>G)
c.-43-18942A>G (n.-43-18942A>G)
c.-99+31808A>G (n.-99+31808A>G)
n.2204A>G
n.2245A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093463T>GCA10597867BRCA1n.2132A>C
c.2068A>C (p.Lys690Gln)
c.1942A>C (p.Lys648Gln)
c.2065A>C (p.Lys689Gln)
c.1990A>C (p.Lys664Gln)
c.784+1281A>C (n.784+1281A>C)
c.646+1281A>C (n.646+1281A>C)
c.1180A>C (p.Lys394Gln)
c.1945A>C (p.Lys649Gln)
c.1927A>C (p.Lys643Gln)
c.664+1281A>C (n.664+1281A>C)
c.706+1281A>C (n.706+1281A>C)
c.670+2383A>C (n.670+2383A>C)
c.*1851A>C (n.*1851A>C)
c.787+1281A>C (n.787+1281A>C)
c.409+1281A>C (n.409+1281A>C)
c.412+1281A>C (n.412+1281A>C)
c.5-29512A>C (n.5-29512A>C)
c.-43-18942A>C (n.-43-18942A>C)
c.-99+31808A>C (n.-99+31808A>C)
n.2204A>C
n.2245A>C
17g.43093463T=CA2260783997BRCA1n.2132A=
c.2068A= (p.Lys690=)
c.1942A= (p.Lys648=)
c.2065A= (p.Lys689=)
c.1990A= (p.Lys664=)
c.784+1281A= (n.784+1281A=)
c.646+1281A= (n.646+1281A=)
c.1180A= (p.Lys394=)
c.1945A= (p.Lys649=)
c.1927A= (p.Lys643=)
c.664+1281A= (n.664+1281A=)
c.706+1281A= (n.706+1281A=)
c.670+2383A= (n.670+2383A=)
c.*1851A= (n.*1851A=)
c.787+1281A= (n.787+1281A=)
c.409+1281A= (n.409+1281A=)
c.412+1281A= (n.412+1281A=)
c.5-29512A= (n.5-29512A=)
c.-43-18942A= (n.-43-18942A=)
c.-99+31808A= (n.-99+31808A=)
n.2204A=
n.2245A=
17g.43093464A=CA2260783999BRCA1n.2131T=
c.2067T= (p.Ser689=)
c.1941T= (p.Ser647=)
c.2064T= (p.Ser688=)
c.1989T= (p.Ser663=)
c.784+1280T= (n.784+1280T=)
c.646+1280T= (n.646+1280T=)
c.1179T= (p.Ser393=)
c.1944T= (p.Ser648=)
c.1926T= (p.Ser642=)
c.664+1280T= (n.664+1280T=)
c.706+1280T= (n.706+1280T=)
c.670+2382T= (n.670+2382T=)
c.*1850T= (n.*1850T=)
c.787+1280T= (n.787+1280T=)
c.409+1280T= (n.409+1280T=)
c.412+1280T= (n.412+1280T=)
c.5-29513T= (n.5-29513T=)
c.-43-18943T= (n.-43-18943T=)
c.-99+31807T= (n.-99+31807T=)
n.2203T=
n.2244T=
17g.43093464A>CCA10597868BRCA1n.2131T>G
c.2067T>G (p.Ser689Arg)
c.1941T>G (p.Ser647Arg)
c.2064T>G (p.Ser688Arg)
c.1989T>G (p.Ser663Arg)
c.784+1280T>G (n.784+1280T>G)
c.646+1280T>G (n.646+1280T>G)
c.1179T>G (p.Ser393Arg)
c.1944T>G (p.Ser648Arg)
c.1926T>G (p.Ser642Arg)
c.664+1280T>G (n.664+1280T>G)
c.706+1280T>G (n.706+1280T>G)
c.670+2382T>G (n.670+2382T>G)
c.*1850T>G (n.*1850T>G)
c.787+1280T>G (n.787+1280T>G)
c.409+1280T>G (n.409+1280T>G)
c.412+1280T>G (n.412+1280T>G)
c.5-29513T>G (n.5-29513T>G)
c.-43-18943T>G (n.-43-18943T>G)
c.-99+31807T>G (n.-99+31807T>G)
n.2203T>G
n.2244T>G
 dbSNP
17g.43093464A>GCA500232967BRCA1n.2131T>C
c.2067T>C (p.Ser689=)
c.1941T>C (p.Ser647=)
c.2064T>C (p.Ser688=)
c.1989T>C (p.Ser663=)
c.784+1280T>C (n.784+1280T>C)
c.646+1280T>C (n.646+1280T>C)
c.1179T>C (p.Ser393=)
c.1944T>C (p.Ser648=)
c.1926T>C (p.Ser642=)
c.664+1280T>C (n.664+1280T>C)
c.706+1280T>C (n.706+1280T>C)
c.670+2382T>C (n.670+2382T>C)
c.*1850T>C (n.*1850T>C)
c.787+1280T>C (n.787+1280T>C)
c.409+1280T>C (n.409+1280T>C)
c.412+1280T>C (n.412+1280T>C)
c.5-29513T>C (n.5-29513T>C)
c.-43-18943T>C (n.-43-18943T>C)
c.-99+31807T>C (n.-99+31807T>C)
n.2203T>C
n.2244T>C
 dbSNP
17g.43093464A>TCA10597869BRCA1n.2131T>A
c.2067T>A (p.Ser689Arg)
c.1941T>A (p.Ser647Arg)
c.2064T>A (p.Ser688Arg)
c.1989T>A (p.Ser663Arg)
c.784+1280T>A (n.784+1280T>A)
c.646+1280T>A (n.646+1280T>A)
c.1179T>A (p.Ser393Arg)
c.1944T>A (p.Ser648Arg)
c.1926T>A (p.Ser642Arg)
c.664+1280T>A (n.664+1280T>A)
c.706+1280T>A (n.706+1280T>A)
c.670+2382T>A (n.670+2382T>A)
c.*1850T>A (n.*1850T>A)
c.787+1280T>A (n.787+1280T>A)
c.409+1280T>A (n.409+1280T>A)
c.412+1280T>A (n.412+1280T>A)
c.5-29513T>A (n.5-29513T>A)
c.-43-18943T>A (n.-43-18943T>A)
c.-99+31807T>A (n.-99+31807T>A)
n.2203T>A
n.2244T>A
 dbSNP
17g.43093464_43093468delinsACTTGCA2260783998BRCA1n.2127_2131delinsCAAGT
c.2063_2067delinsCAAGT (p.Thr688=)
c.1937_1941delinsCAAGT (p.Thr646=)
c.2060_2064delinsCAAGT (p.Thr687=)
c.1985_1989delinsCAAGT (p.Thr662=)
c.784+1276_784+1280delinsCAAGT (n.784+1276_784+1280delinsCAAGT)
c.646+1276_646+1280delinsCAAGT (n.646+1276_646+1280delinsCAAGT)
c.1175_1179delinsCAAGT (p.Thr392=)
c.1940_1944delinsCAAGT (p.Thr647=)
c.1922_1926delinsCAAGT (p.Thr641=)
c.664+1276_664+1280delinsCAAGT (n.664+1276_664+1280delinsCAAGT)
c.706+1276_706+1280delinsCAAGT (n.706+1276_706+1280delinsCAAGT)
c.670+2378_670+2382delinsCAAGT (n.670+2378_670+2382delinsCAAGT)
c.*1846_*1850delinsCAAGT (n.*1846_*1850delinsCAAGT)
c.787+1276_787+1280delinsCAAGT (n.787+1276_787+1280delinsCAAGT)
c.409+1276_409+1280delinsCAAGT (n.409+1276_409+1280delinsCAAGT)
c.412+1276_412+1280delinsCAAGT (n.412+1276_412+1280delinsCAAGT)
c.5-29517_5-29513delinsCAAGT (n.5-29517_5-29513delinsCAAGT)
c.-43-18947_-43-18943delinsCAAGT (n.-43-18947_-43-18943delinsCAAGT)
c.-99+31803_-99+31807delinsCAAGT (n.-99+31803_-99+31807delinsCAAGT)
n.2199_2203delinsCAAGT
n.2240_2244delinsCAAGT
17g.43093465C>ACA10597870BRCA1n.2130G>T
c.2066G>T (p.Ser689Ile)
c.1940G>T (p.Ser647Ile)
c.2063G>T (p.Ser688Ile)
c.1988G>T (p.Ser663Ile)
c.784+1279G>T (n.784+1279G>T)
c.646+1279G>T (n.646+1279G>T)
c.1178G>T (p.Ser393Ile)
c.1943G>T (p.Ser648Ile)
c.1925G>T (p.Ser642Ile)
c.664+1279G>T (n.664+1279G>T)
c.706+1279G>T (n.706+1279G>T)
c.670+2381G>T (n.670+2381G>T)
c.*1849G>T (n.*1849G>T)
c.787+1279G>T (n.787+1279G>T)
c.409+1279G>T (n.409+1279G>T)
c.412+1279G>T (n.412+1279G>T)
c.5-29514G>T (n.5-29514G>T)
c.-43-18944G>T (n.-43-18944G>T)
c.-99+31806G>T (n.-99+31806G>T)
n.2202G>T
n.2243G>T
 dbSNP
17g.43093465C=CA2260784000BRCA1n.2130G=
c.2066G= (p.Ser689=)
c.1940G= (p.Ser647=)
c.2063G= (p.Ser688=)
c.1988G= (p.Ser663=)
c.784+1279G= (n.784+1279G=)
c.646+1279G= (n.646+1279G=)
c.1178G= (p.Ser393=)
c.1943G= (p.Ser648=)
c.1925G= (p.Ser642=)
c.664+1279G= (n.664+1279G=)
c.706+1279G= (n.706+1279G=)
c.670+2381G= (n.670+2381G=)
c.*1849G= (n.*1849G=)
c.787+1279G= (n.787+1279G=)
c.409+1279G= (n.409+1279G=)
c.412+1279G= (n.412+1279G=)
c.5-29514G= (n.5-29514G=)
c.-43-18944G= (n.-43-18944G=)
c.-99+31806G= (n.-99+31806G=)
n.2202G=
n.2243G=
17g.43093465C>GCA10597871BRCA1n.2130G>C
c.2066G>C (p.Ser689Thr)
c.1940G>C (p.Ser647Thr)
c.2063G>C (p.Ser688Thr)
c.1988G>C (p.Ser663Thr)
c.784+1279G>C (n.784+1279G>C)
c.646+1279G>C (n.646+1279G>C)
c.1178G>C (p.Ser393Thr)
c.1943G>C (p.Ser648Thr)
c.1925G>C (p.Ser642Thr)
c.664+1279G>C (n.664+1279G>C)
c.706+1279G>C (n.706+1279G>C)
c.670+2381G>C (n.670+2381G>C)
c.*1849G>C (n.*1849G>C)
c.787+1279G>C (n.787+1279G>C)
c.409+1279G>C (n.409+1279G>C)
c.412+1279G>C (n.412+1279G>C)
c.5-29514G>C (n.5-29514G>C)
c.-43-18944G>C (n.-43-18944G>C)
c.-99+31806G>C (n.-99+31806G>C)
n.2202G>C
n.2243G>C
 ClinVar dbSNP
17g.43093465C>TCA057736BRCA1n.2130G>A
c.2066G>A (p.Ser689Asn)
c.1940G>A (p.Ser647Asn)
c.2063G>A (p.Ser688Asn)
c.1988G>A (p.Ser663Asn)
c.784+1279G>A (n.784+1279G>A)
c.646+1279G>A (n.646+1279G>A)
c.1178G>A (p.Ser393Asn)
c.1943G>A (p.Ser648Asn)
c.1925G>A (p.Ser642Asn)
c.664+1279G>A (n.664+1279G>A)
c.706+1279G>A (n.706+1279G>A)
c.670+2381G>A (n.670+2381G>A)
c.*1849G>A (n.*1849G>A)
c.787+1279G>A (n.787+1279G>A)
c.409+1279G>A (n.409+1279G>A)
c.412+1279G>A (n.412+1279G>A)
c.5-29514G>A (n.5-29514G>A)
c.-43-18944G>A (n.-43-18944G>A)
c.-99+31806G>A (n.-99+31806G>A)
n.2202G>A
n.2243G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43093465dupCA891844199BRCA1n.2130dup
c.2066dup (p.Ser689ArgfsTer2)
c.1940dup (p.Ser647ArgfsTer2)
c.2063dup (p.Ser688ArgfsTer2)
c.1988dup (p.Ser663ArgfsTer2)
c.784+1279dup (n.784+1279dup)
c.646+1279dup (n.646+1279dup)
c.1178dup (p.Ser393ArgfsTer2)
c.1943dup (p.Ser648ArgfsTer2)
c.1925dup (p.Ser642ArgfsTer2)
c.664+1279dup (n.664+1279dup)
c.706+1279dup (n.706+1279dup)
c.670+2381dup (n.670+2381dup)
c.*1849dup (n.*1849dup)
c.787+1279dup (n.787+1279dup)
c.409+1279dup (n.409+1279dup)
c.412+1279dup (n.412+1279dup)
c.5-29514dup (n.5-29514dup)
c.-43-18944dup (n.-43-18944dup)
c.-99+31806dup (n.-99+31806dup)
n.2202dup
n.2243dup
 ClinVar dbSNP
17g.43093465_43093468delCA001365BRCA1n.2127_2130del
c.2063_2066del (p.Thr688IlefsTer12)
c.1937_1940del (p.Thr646IlefsTer12)
c.2060_2063del (p.Thr687IlefsTer12)
c.1985_1988del (p.Thr662IlefsTer12)
c.784+1276_784+1279del (n.784+1276_784+1279del)
c.646+1276_646+1279del (n.646+1276_646+1279del)
c.1175_1178del (p.Thr392IlefsTer12)
c.1940_1943del (p.Thr647IlefsTer12)
c.1922_1925del (p.Thr641IlefsTer12)
c.664+1276_664+1279del (n.664+1276_664+1279del)
c.706+1276_706+1279del (n.706+1276_706+1279del)
c.670+2378_670+2381del (n.670+2378_670+2381del)
c.*1846_*1849del (n.*1846_*1849del)
c.787+1276_787+1279del (n.787+1276_787+1279del)
c.409+1276_409+1279del (n.409+1276_409+1279del)
c.412+1276_412+1279del (n.412+1276_412+1279del)
c.5-29517_5-29514del (n.5-29517_5-29514del)
c.-43-18947_-43-18944del (n.-43-18947_-43-18944del)
c.-99+31803_-99+31806del (n.-99+31803_-99+31806del)
n.2199_2202del
n.2240_2243del
 ClinVar dbSNP
17g.43093466T>ACA10597872BRCA1n.2129A>T
c.2065A>T (p.Ser689Cys)
c.1939A>T (p.Ser647Cys)
c.2062A>T (p.Ser688Cys)
c.1987A>T (p.Ser663Cys)
c.784+1278A>T (n.784+1278A>T)
c.646+1278A>T (n.646+1278A>T)
c.1177A>T (p.Ser393Cys)
c.1942A>T (p.Ser648Cys)
c.1924A>T (p.Ser642Cys)
c.664+1278A>T (n.664+1278A>T)
c.706+1278A>T (n.706+1278A>T)
c.670+2380A>T (n.670+2380A>T)
c.*1848A>T (n.*1848A>T)
c.787+1278A>T (n.787+1278A>T)
c.409+1278A>T (n.409+1278A>T)
c.412+1278A>T (n.412+1278A>T)
c.5-29515A>T (n.5-29515A>T)
c.-43-18945A>T (n.-43-18945A>T)
c.-99+31805A>T (n.-99+31805A>T)
n.2201A>T
n.2242A>T
 dbSNP
17g.43093466T>CCA10580637BRCA1n.2129A>G
c.2065A>G (p.Ser689Gly)
c.1939A>G (p.Ser647Gly)
c.2062A>G (p.Ser688Gly)
c.1987A>G (p.Ser663Gly)
c.784+1278A>G (n.784+1278A>G)
c.646+1278A>G (n.646+1278A>G)
c.1177A>G (p.Ser393Gly)
c.1942A>G (p.Ser648Gly)
c.1924A>G (p.Ser642Gly)
c.664+1278A>G (n.664+1278A>G)
c.706+1278A>G (n.706+1278A>G)
c.670+2380A>G (n.670+2380A>G)
c.*1848A>G (n.*1848A>G)
c.787+1278A>G (n.787+1278A>G)
c.409+1278A>G (n.409+1278A>G)
c.412+1278A>G (n.412+1278A>G)
c.5-29515A>G (n.5-29515A>G)
c.-43-18945A>G (n.-43-18945A>G)
c.-99+31805A>G (n.-99+31805A>G)
n.2201A>G
n.2242A>G
 ClinVar dbSNP gnomAD v4
17g.43093466T>GCA10597873BRCA1n.2129A>C
c.2065A>C (p.Ser689Arg)
c.1939A>C (p.Ser647Arg)
c.2062A>C (p.Ser688Arg)
c.1987A>C (p.Ser663Arg)
c.784+1278A>C (n.784+1278A>C)
c.646+1278A>C (n.646+1278A>C)
c.1177A>C (p.Ser393Arg)
c.1942A>C (p.Ser648Arg)
c.1924A>C (p.Ser642Arg)
c.664+1278A>C (n.664+1278A>C)
c.706+1278A>C (n.706+1278A>C)
c.670+2380A>C (n.670+2380A>C)
c.*1848A>C (n.*1848A>C)
c.787+1278A>C (n.787+1278A>C)
c.409+1278A>C (n.409+1278A>C)
c.412+1278A>C (n.412+1278A>C)
c.5-29515A>C (n.5-29515A>C)
c.-43-18945A>C (n.-43-18945A>C)
c.-99+31805A>C (n.-99+31805A>C)
n.2201A>C
n.2242A>C
17g.43093466T=CA2260784001BRCA1n.2129A=
c.2065A= (p.Ser689=)
c.1939A= (p.Ser647=)
c.2062A= (p.Ser688=)
c.1987A= (p.Ser663=)
c.784+1278A= (n.784+1278A=)
c.646+1278A= (n.646+1278A=)
c.1177A= (p.Ser393=)
c.1942A= (p.Ser648=)
c.1924A= (p.Ser642=)
c.664+1278A= (n.664+1278A=)
c.706+1278A= (n.706+1278A=)
c.670+2380A= (n.670+2380A=)
c.*1848A= (n.*1848A=)
c.787+1278A= (n.787+1278A=)
c.409+1278A= (n.409+1278A=)
c.412+1278A= (n.412+1278A=)
c.5-29515A= (n.5-29515A=)
c.-43-18945A= (n.-43-18945A=)
c.-99+31805A= (n.-99+31805A=)
n.2201A=
n.2242A=
17g.43093466_43093470delinsTTGTCCA2260784002BRCA1n.2125_2129delinsGACAA
c.2061_2065delinsGACAA (p.Gln687=)
c.1935_1939delinsGACAA (p.Gln645=)
c.2058_2062delinsGACAA (p.Gln686=)
c.1983_1987delinsGACAA (p.Gln661=)
c.784+1274_784+1278delinsGACAA (n.784+1274_784+1278delinsGACAA)
c.646+1274_646+1278delinsGACAA (n.646+1274_646+1278delinsGACAA)
c.1173_1177delinsGACAA (p.Gln391=)
c.1938_1942delinsGACAA (p.Gln646=)
c.1920_1924delinsGACAA (p.Gln640=)
c.664+1274_664+1278delinsGACAA (n.664+1274_664+1278delinsGACAA)
c.706+1274_706+1278delinsGACAA (n.706+1274_706+1278delinsGACAA)
c.670+2376_670+2380delinsGACAA (n.670+2376_670+2380delinsGACAA)
c.*1844_*1848delinsGACAA (n.*1844_*1848delinsGACAA)
c.787+1274_787+1278delinsGACAA (n.787+1274_787+1278delinsGACAA)
c.409+1274_409+1278delinsGACAA (n.409+1274_409+1278delinsGACAA)
c.412+1274_412+1278delinsGACAA (n.412+1274_412+1278delinsGACAA)
c.5-29519_5-29515delinsGACAA (n.5-29519_5-29515delinsGACAA)
c.-43-18949_-43-18945delinsGACAA (n.-43-18949_-43-18945delinsGACAA)
c.-99+31801_-99+31805delinsGACAA (n.-99+31801_-99+31805delinsGACAA)
n.2197_2201delinsGACAA
n.2238_2242delinsGACAA
17g.43093467T>ACA500232971BRCA1n.2128A>T
c.2064A>T (p.Thr688=)
c.1938A>T (p.Thr646=)
c.2061A>T (p.Thr687=)
c.1986A>T (p.Thr662=)
c.784+1277A>T (n.784+1277A>T)
c.646+1277A>T (n.646+1277A>T)
c.1176A>T (p.Thr392=)
c.1941A>T (p.Thr647=)
c.1923A>T (p.Thr641=)
c.664+1277A>T (n.664+1277A>T)
c.706+1277A>T (n.706+1277A>T)
c.670+2379A>T (n.670+2379A>T)
c.*1847A>T (n.*1847A>T)
c.787+1277A>T (n.787+1277A>T)
c.409+1277A>T (n.409+1277A>T)
c.412+1277A>T (n.412+1277A>T)
c.5-29516A>T (n.5-29516A>T)
c.-43-18946A>T (n.-43-18946A>T)
c.-99+31804A>T (n.-99+31804A>T)
n.2200A>T
n.2241A>T
 ClinVar dbSNP
17g.43093467T>CCA500232969BRCA1n.2128A>G
c.2064A>G (p.Thr688=)
c.1938A>G (p.Thr646=)
c.2061A>G (p.Thr687=)
c.1986A>G (p.Thr662=)
c.784+1277A>G (n.784+1277A>G)
c.646+1277A>G (n.646+1277A>G)
c.1176A>G (p.Thr392=)
c.1941A>G (p.Thr647=)
c.1923A>G (p.Thr641=)
c.664+1277A>G (n.664+1277A>G)
c.706+1277A>G (n.706+1277A>G)
c.670+2379A>G (n.670+2379A>G)
c.*1847A>G (n.*1847A>G)
c.787+1277A>G (n.787+1277A>G)
c.409+1277A>G (n.409+1277A>G)
c.412+1277A>G (n.412+1277A>G)
c.5-29516A>G (n.5-29516A>G)
c.-43-18946A>G (n.-43-18946A>G)
c.-99+31804A>G (n.-99+31804A>G)
n.2200A>G
n.2241A>G
 ClinVar dbSNP

Number of alleles fetched