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.43090874_43091110delinsGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATCA2260781584BRCA1c.4097-78_4185+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3971-78_4059+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.4094-78_4182+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.4019-78_4107+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.785-78_873+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.647-78_735+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3209-78_3297+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3974-78_4062+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3956-78_4044+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.665-78_753+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.707-78_795+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.418-78_506+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.671-78_759+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.*3880-78_*3968+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.391-78_479+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.788-78_876+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.410-78_498+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.413-78_501+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
c.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
c.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
n.4233-78_4321+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
n.4274-78_4362+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
17g.43090878_43091113delCA10602594BRCA1c.4097-78_4185+69del
c.3971-78_4059+69del
c.4094-78_4182+69del
c.4019-78_4107+69del
c.785-78_873+69del
c.647-78_735+69del
c.3209-78_3297+69del
c.3974-78_4062+69del
c.3956-78_4044+69del
c.665-78_753+69del
c.707-78_795+69del
c.418-78_506+69del
c.671-78_759+69del
c.*3880-78_*3968+69del
c.391-78_479+69del
c.788-78_876+69del
c.410-78_498+69del
c.413-78_501+69del
c.5-27159_5-26924del (n.5-27159_5-26924del)
c.-43-16589_-43-16354del (n.-43-16589_-43-16354del)
c.-99+34161_-99+34396del (n.-99+34161_-99+34396del)
n.4233-78_4321+69del
n.4274-78_4362+69del
 ClinVar dbSNP
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.43090994_43091052delinsAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGCA2260781686BRCA1c.4097-20_4135delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3971-20_4009delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.4094-20_4132delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.4019-20_4057delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.785-20_823delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.647-20_685delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3209-20_3247delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3974-20_4012delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3956-20_3994delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.665-20_703delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.707-20_745delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.418-20_456delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.671-20_709delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.*3880-20_*3918delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.391-20_429delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.788-20_826delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.410-20_448delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.413-20_451delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.5-27101_5-27043delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.5-27101_5-27043delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
c.-43-16531_-43-16473delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.-43-16531_-43-16473delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
c.-99+34219_-99+34277delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.-99+34219_-99+34277delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
n.4233-20_4271delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
n.4274-20_4312delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
17g.43090996_43091053delCA1139665602BRCA1c.4097-20_4134del
c.3971-20_4008del
c.4094-20_4131del
c.4019-20_4056del
c.785-20_822del
c.647-20_684del
c.3209-20_3246del
c.3974-20_4011del
c.3956-20_3993del
c.665-20_702del
c.707-20_744del
c.418-20_455del
c.671-20_708del
c.*3880-20_*3917del
c.391-20_428del
c.788-20_825del
c.410-20_447del
c.413-20_450del
c.5-27101_5-27044del (n.5-27101_5-27044del)
c.-43-16531_-43-16474del (n.-43-16531_-43-16474del)
c.-99+34219_-99+34276del (n.-99+34219_-99+34276del)
n.4233-20_4270del
n.4274-20_4311del
 ClinVar dbSNP
17g.43090998_43091016delCA2499224439BRCA1c.4115_4133del (p.Cys1372SerfsTer15)
c.3989_4007del (p.Cys1330SerfsTer15)
c.4112_4130del (p.Cys1371SerfsTer15)
c.4037_4055del (p.Cys1346SerfsTer15)
c.803_821del (p.Cys268SerfsTer15)
c.665_683del (p.Cys222SerfsTer15)
c.3227_3245del (p.Cys1076SerfsTer15)
c.3992_4010del (p.Cys1331SerfsTer15)
c.3974_3992del (p.Cys1325SerfsTer15)
c.683_701del (p.Cys228SerfsTer15)
c.725_743del (p.Cys242SerfsTer15)
c.436_454del
c.689_707del (p.Cys230SerfsTer15)
c.*3898_*3916del (n.*3898_*3916del)
c.409_427del
c.806_824del (p.Cys269SerfsTer15)
c.428_446del (p.Cys143SerfsTer15)
c.431_449del (p.Cys144SerfsTer15)
c.5-27063_5-27045del (n.5-27063_5-27045del)
c.-43-16493_-43-16475del (n.-43-16493_-43-16475del)
c.-99+34257_-99+34275del (n.-99+34257_-99+34275del)
n.4251_4269del
n.4292_4310del
17g.43090999_43091000delinsCTCA2260781693BRCA1c.4129_4130delinsAG (p.Ser1377=)
c.4003_4004delinsAG (p.Ser1335=)
c.4126_4127delinsAG (p.Ser1376=)
c.4051_4052delinsAG (p.Ser1351=)
c.817_818delinsAG (p.Ser273=)
c.679_680delinsAG (p.Ser227=)
c.3241_3242delinsAG (p.Ser1081=)
c.4006_4007delinsAG (p.Ser1336=)
c.3988_3989delinsAG (p.Ser1330=)
c.697_698delinsAG (p.Ser233=)
c.739_740delinsAG (p.Ser247=)
c.450_451delinsAG
c.703_704delinsAG (p.Ser235=)
c.*3912_*3913delinsAG (n.*3912_*3913delinsAG)
c.423_424delinsAG
c.820_821delinsAG (p.Ser274=)
c.442_443delinsAG (p.Ser148=)
c.445_446delinsAG (p.Ser149=)
c.5-27049_5-27048delinsAG (n.5-27049_5-27048delinsAG)
c.-43-16479_-43-16478delinsAG (n.-43-16479_-43-16478delinsAG)
c.-99+34271_-99+34272delinsAG (n.-99+34271_-99+34272delinsAG)
n.4265_4266delinsAG
n.4306_4307delinsAG
17g.43090999_43091001delinsCTTCA2260781694BRCA1c.4128_4130delinsAAG (p.Thr1376=)
c.4002_4004delinsAAG (p.Thr1334=)
c.4125_4127delinsAAG (p.Thr1375=)
c.4050_4052delinsAAG (p.Thr1350=)
c.816_818delinsAAG (p.Thr272=)
c.678_680delinsAAG (p.Thr226=)
c.3240_3242delinsAAG (p.Thr1080=)
c.4005_4007delinsAAG (p.Thr1335=)
c.3987_3989delinsAAG (p.Thr1329=)
c.696_698delinsAAG (p.Thr232=)
c.738_740delinsAAG (p.Thr246=)
c.449_451delinsAAG
c.702_704delinsAAG (p.Thr234=)
c.*3911_*3913delinsAAG (n.*3911_*3913delinsAAG)
c.422_424delinsAAG
c.819_821delinsAAG (p.Thr273=)
c.441_443delinsAAG (p.Thr147=)
c.444_446delinsAAG (p.Thr148=)
c.5-27050_5-27048delinsAAG (n.5-27050_5-27048delinsAAG)
c.-43-16480_-43-16478delinsAAG (n.-43-16480_-43-16478delinsAAG)
c.-99+34270_-99+34272delinsAAG (n.-99+34270_-99+34272delinsAAG)
n.4264_4266delinsAAG
n.4305_4307delinsAAG
17g.43090999_43091003delinsCTTGTCA2260781692BRCA1c.4126_4130delinsACAAG (p.Thr1376=)
c.4000_4004delinsACAAG (p.Thr1334=)
c.4123_4127delinsACAAG (p.Thr1375=)
c.4048_4052delinsACAAG (p.Thr1350=)
c.814_818delinsACAAG (p.Thr272=)
c.676_680delinsACAAG (p.Thr226=)
c.3238_3242delinsACAAG (p.Thr1080=)
c.4003_4007delinsACAAG (p.Thr1335=)
c.3985_3989delinsACAAG (p.Thr1329=)
c.694_698delinsACAAG (p.Thr232=)
c.736_740delinsACAAG (p.Thr246=)
c.447_451delinsACAAG
c.700_704delinsACAAG (p.Thr234=)
c.*3909_*3913delinsACAAG (n.*3909_*3913delinsACAAG)
c.420_424delinsACAAG
c.817_821delinsACAAG (p.Thr273=)
c.439_443delinsACAAG (p.Thr147=)
c.442_446delinsACAAG (p.Thr148=)
c.5-27052_5-27048delinsACAAG (n.5-27052_5-27048delinsACAAG)
c.-43-16482_-43-16478delinsACAAG (n.-43-16482_-43-16478delinsACAAG)
c.-99+34268_-99+34272delinsACAAG (n.-99+34268_-99+34272delinsACAAG)
n.4262_4266delinsACAAG
n.4303_4307delinsACAAG
17g.43091000T>ACA10593466BRCA1c.4129A>T (p.Ser1377Cys)
c.4003A>T (p.Ser1335Cys)
c.4126A>T (p.Ser1376Cys)
c.4051A>T (p.Ser1351Cys)
c.817A>T (p.Ser273Cys)
c.679A>T (p.Ser227Cys)
c.3241A>T (p.Ser1081Cys)
c.4006A>T (p.Ser1336Cys)
c.3988A>T (p.Ser1330Cys)
c.697A>T (p.Ser233Cys)
c.739A>T (p.Ser247Cys)
c.450A>T
c.703A>T (p.Ser235Cys)
c.*3912A>T (n.*3912A>T)
c.423A>T
c.820A>T (p.Ser274Cys)
c.442A>T (p.Ser148Cys)
c.445A>T (p.Ser149Cys)
c.5-27049A>T (n.5-27049A>T)
c.-43-16479A>T (n.-43-16479A>T)
c.-99+34271A>T (n.-99+34271A>T)
n.4265A>T
n.4306A>T
 dbSNP
17g.43091000T>CCA002649BRCA1c.4129A>G (p.Ser1377Gly)
c.4003A>G (p.Ser1335Gly)
c.4126A>G (p.Ser1376Gly)
c.4051A>G (p.Ser1351Gly)
c.817A>G (p.Ser273Gly)
c.679A>G (p.Ser227Gly)
c.3241A>G (p.Ser1081Gly)
c.4006A>G (p.Ser1336Gly)
c.3988A>G (p.Ser1330Gly)
c.697A>G (p.Ser233Gly)
c.739A>G (p.Ser247Gly)
c.450A>G
c.703A>G (p.Ser235Gly)
c.*3912A>G (n.*3912A>G)
c.423A>G
c.820A>G (p.Ser274Gly)
c.442A>G (p.Ser148Gly)
c.445A>G (p.Ser149Gly)
c.5-27049A>G (n.5-27049A>G)
c.-43-16479A>G (n.-43-16479A>G)
c.-99+34271A>G (n.-99+34271A>G)
n.4265A>G
n.4306A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091000T>GCA10593467BRCA1c.4129A>C (p.Ser1377Arg)
c.4003A>C (p.Ser1335Arg)
c.4126A>C (p.Ser1376Arg)
c.4051A>C (p.Ser1351Arg)
c.817A>C (p.Ser273Arg)
c.679A>C (p.Ser227Arg)
c.3241A>C (p.Ser1081Arg)
c.4006A>C (p.Ser1336Arg)
c.3988A>C (p.Ser1330Arg)
c.697A>C (p.Ser233Arg)
c.739A>C (p.Ser247Arg)
c.450A>C
c.703A>C (p.Ser235Arg)
c.*3912A>C (n.*3912A>C)
c.423A>C
c.820A>C (p.Ser274Arg)
c.442A>C (p.Ser148Arg)
c.445A>C (p.Ser149Arg)
c.5-27049A>C (n.5-27049A>C)
c.-43-16479A>C (n.-43-16479A>C)
c.-99+34271A>C (n.-99+34271A>C)
n.4265A>C
n.4306A>C
 dbSNP
17g.43091000T=CA2260781695BRCA1c.4129A= (p.Ser1377=)
c.4003A= (p.Ser1335=)
c.4126A= (p.Ser1376=)
c.4051A= (p.Ser1351=)
c.817A= (p.Ser273=)
c.679A= (p.Ser227=)
c.3241A= (p.Ser1081=)
c.4006A= (p.Ser1336=)
c.3988A= (p.Ser1330=)
c.697A= (p.Ser233=)
c.739A= (p.Ser247=)
c.450A=
c.703A= (p.Ser235=)
c.*3912A= (n.*3912A=)
c.423A=
c.820A= (p.Ser274=)
c.442A= (p.Ser148=)
c.445A= (p.Ser149=)
c.5-27049A= (n.5-27049A=)
c.-43-16479A= (n.-43-16479A=)
c.-99+34271A= (n.-99+34271A=)
n.4265A=
n.4306A=
17g.43091000_43091001delCA002648BRCA1c.4128_4129del (p.Ser1377ArgfsTer3)
c.4002_4003del (p.Ser1335ArgfsTer3)
c.4125_4126del (p.Ser1376ArgfsTer3)
c.4050_4051del (p.Ser1351ArgfsTer3)
c.816_817del (p.Ser273ArgfsTer3)
c.678_679del (p.Ser227ArgfsTer3)
c.3240_3241del (p.Ser1081ArgfsTer3)
c.4005_4006del (p.Ser1336ArgfsTer3)
c.3987_3988del (p.Ser1330ArgfsTer3)
c.696_697del (p.Ser233ArgfsTer3)
c.738_739del (p.Ser247ArgfsTer3)
c.449_450del
c.702_703del (p.Ser235ArgfsTer3)
c.*3911_*3912del (n.*3911_*3912del)
c.422_423del
c.819_820del (p.Ser274ArgfsTer3)
c.441_442del (p.Ser148ArgfsTer3)
c.444_445del (p.Ser149ArgfsTer3)
c.5-27050_5-27049del (n.5-27050_5-27049del)
c.-43-16480_-43-16479del (n.-43-16480_-43-16479del)
c.-99+34270_-99+34271del (n.-99+34270_-99+34271del)
n.4264_4265del
n.4305_4306del
 ClinVar dbSNP
17g.43091001delCA10589688BRCA1c.4129del (p.Ser1377AlafsTer16)
c.4003del (p.Ser1335AlafsTer16)
c.4126del (p.Ser1376AlafsTer16)
c.4051del (p.Ser1351AlafsTer16)
c.817del (p.Ser273AlafsTer16)
c.679del (p.Ser227AlafsTer16)
c.3241del (p.Ser1081AlafsTer16)
c.4006del (p.Ser1336AlafsTer16)
c.3988del (p.Ser1330AlafsTer16)
c.697del (p.Ser233AlafsTer16)
c.739del (p.Ser247AlafsTer16)
c.450del
c.703del (p.Ser235AlafsTer16)
c.*3912del (n.*3912del)
c.423del
c.820del (p.Ser274AlafsTer16)
c.442del (p.Ser148AlafsTer16)
c.445del (p.Ser149AlafsTer16)
c.5-27049del (n.5-27049del)
c.-43-16479del (n.-43-16479del)
c.-99+34271del (n.-99+34271del)
n.4265del
n.4306del
 ClinVar dbSNP
17g.43091002_43091005delCA10589687BRCA1c.4126_4129del (p.Thr1376AlafsTer16)
c.4000_4003del (p.Thr1334AlafsTer16)
c.4123_4126del (p.Thr1375AlafsTer16)
c.4048_4051del (p.Thr1350AlafsTer16)
c.814_817del (p.Thr272AlafsTer16)
c.676_679del (p.Thr226AlafsTer16)
c.3238_3241del (p.Thr1080AlafsTer16)
c.4003_4006del (p.Thr1335AlafsTer16)
c.3985_3988del (p.Thr1329AlafsTer16)
c.694_697del (p.Thr232AlafsTer16)
c.736_739del (p.Thr246AlafsTer16)
c.447_450del
c.700_703del (p.Thr234AlafsTer16)
c.*3909_*3912del (n.*3909_*3912del)
c.420_423del
c.817_820del (p.Thr273AlafsTer16)
c.439_442del (p.Thr147AlafsTer16)
c.442_445del (p.Thr148AlafsTer16)
c.5-27052_5-27049del (n.5-27052_5-27049del)
c.-43-16482_-43-16479del (n.-43-16482_-43-16479del)
c.-99+34268_-99+34271del (n.-99+34268_-99+34271del)
n.4262_4265del
n.4303_4306del
 ClinVar dbSNP
17g.43091001T>ACA500123060BRCA1c.4128A>T (p.Thr1376=)
c.4002A>T (p.Thr1334=)
c.4125A>T (p.Thr1375=)
c.4050A>T (p.Thr1350=)
c.816A>T (p.Thr272=)
c.678A>T (p.Thr226=)
c.3240A>T (p.Thr1080=)
c.4005A>T (p.Thr1335=)
c.3987A>T (p.Thr1329=)
c.696A>T (p.Thr232=)
c.738A>T (p.Thr246=)
c.449A>T
c.702A>T (p.Thr234=)
c.*3911A>T (n.*3911A>T)
c.422A>T
c.819A>T (p.Thr273=)
c.441A>T (p.Thr147=)
c.444A>T (p.Thr148=)
c.5-27050A>T (n.5-27050A>T)
c.-43-16480A>T (n.-43-16480A>T)
c.-99+34270A>T (n.-99+34270A>T)
n.4264A>T
n.4305A>T
 dbSNP
17g.43091001T>CCA500123062BRCA1c.4128A>G (p.Thr1376=)
c.4002A>G (p.Thr1334=)
c.4125A>G (p.Thr1375=)
c.4050A>G (p.Thr1350=)
c.816A>G (p.Thr272=)
c.678A>G (p.Thr226=)
c.3240A>G (p.Thr1080=)
c.4005A>G (p.Thr1335=)
c.3987A>G (p.Thr1329=)
c.696A>G (p.Thr232=)
c.738A>G (p.Thr246=)
c.449A>G
c.702A>G (p.Thr234=)
c.*3911A>G (n.*3911A>G)
c.422A>G
c.819A>G (p.Thr273=)
c.441A>G (p.Thr147=)
c.444A>G (p.Thr148=)
c.5-27050A>G (n.5-27050A>G)
c.-43-16480A>G (n.-43-16480A>G)
c.-99+34270A>G (n.-99+34270A>G)
n.4264A>G
n.4305A>G
 ClinVar dbSNP
17g.43091001T>GCA500123064BRCA1c.4128A>C (p.Thr1376=)
c.4002A>C (p.Thr1334=)
c.4125A>C (p.Thr1375=)
c.4050A>C (p.Thr1350=)
c.816A>C (p.Thr272=)
c.678A>C (p.Thr226=)
c.3240A>C (p.Thr1080=)
c.4005A>C (p.Thr1335=)
c.3987A>C (p.Thr1329=)
c.696A>C (p.Thr232=)
c.738A>C (p.Thr246=)
c.449A>C
c.702A>C (p.Thr234=)
c.*3911A>C (n.*3911A>C)
c.422A>C
c.819A>C (p.Thr273=)
c.441A>C (p.Thr147=)
c.444A>C (p.Thr148=)
c.5-27050A>C (n.5-27050A>C)
c.-43-16480A>C (n.-43-16480A>C)
c.-99+34270A>C (n.-99+34270A>C)
n.4264A>C
n.4305A>C
17g.43091001_43091002delinsTGCA2260781696BRCA1c.4127_4128delinsCA (p.Thr1376=)
c.4001_4002delinsCA (p.Thr1334=)
c.4124_4125delinsCA (p.Thr1375=)
c.4049_4050delinsCA (p.Thr1350=)
c.815_816delinsCA (p.Thr272=)
c.677_678delinsCA (p.Thr226=)
c.3239_3240delinsCA (p.Thr1080=)
c.4004_4005delinsCA (p.Thr1335=)
c.3986_3987delinsCA (p.Thr1329=)
c.695_696delinsCA (p.Thr232=)
c.737_738delinsCA (p.Thr246=)
c.448_449delinsCA
c.701_702delinsCA (p.Thr234=)
c.*3910_*3911delinsCA (n.*3910_*3911delinsCA)
c.421_422delinsCA
c.818_819delinsCA (p.Thr273=)
c.440_441delinsCA (p.Thr147=)
c.443_444delinsCA (p.Thr148=)
c.5-27051_5-27050delinsCA (n.5-27051_5-27050delinsCA)
c.-43-16481_-43-16480delinsCA (n.-43-16481_-43-16480delinsCA)
c.-99+34269_-99+34270delinsCA (n.-99+34269_-99+34270delinsCA)
n.4263_4264delinsCA
n.4304_4305delinsCA
17g.43091002_43091003delCA2499224440BRCA1c.4127_4128del (p.Thr1376LysfsTer4)
c.4001_4002del (p.Thr1334LysfsTer4)
c.4124_4125del (p.Thr1375LysfsTer4)
c.4049_4050del (p.Thr1350LysfsTer4)
c.815_816del (p.Thr272LysfsTer4)
c.677_678del (p.Thr226LysfsTer4)
c.3239_3240del (p.Thr1080LysfsTer4)
c.4004_4005del (p.Thr1335LysfsTer4)
c.3986_3987del (p.Thr1329LysfsTer4)
c.695_696del (p.Thr232LysfsTer4)
c.737_738del (p.Thr246LysfsTer4)
c.448_449del
c.701_702del (p.Thr234LysfsTer4)
c.*3910_*3911del (n.*3910_*3911del)
c.421_422del
c.818_819del (p.Thr273LysfsTer4)
c.440_441del (p.Thr147LysfsTer4)
c.443_444del (p.Thr148LysfsTer4)
c.5-27051_5-27050del (n.5-27051_5-27050del)
c.-43-16481_-43-16480del (n.-43-16481_-43-16480del)
c.-99+34269_-99+34270del (n.-99+34269_-99+34270del)
n.4263_4264del
n.4304_4305del
17g.43091002delCA10589689BRCA1c.4127del (p.Thr1376LysfsTer17)
c.4001del (p.Thr1334LysfsTer17)
c.4124del (p.Thr1375LysfsTer17)
c.4049del (p.Thr1350LysfsTer17)
c.815del (p.Thr272LysfsTer17)
c.677del (p.Thr226LysfsTer17)
c.3239del (p.Thr1080LysfsTer17)
c.4004del (p.Thr1335LysfsTer17)
c.3986del (p.Thr1329LysfsTer17)
c.695del (p.Thr232LysfsTer17)
c.737del (p.Thr246LysfsTer17)
c.448del
c.701del (p.Thr234LysfsTer17)
c.*3910del (n.*3910del)
c.421del
c.818del (p.Thr273LysfsTer17)
c.440del (p.Thr147LysfsTer17)
c.443del (p.Thr148LysfsTer17)
c.5-27051del (n.5-27051del)
c.-43-16481del (n.-43-16481del)
c.-99+34269del (n.-99+34269del)
n.4263del
n.4304del
 ClinVar dbSNP
17g.43091002G>ACA10593468BRCA1c.4127C>T (p.Thr1376Ile)
c.4001C>T (p.Thr1334Ile)
c.4124C>T (p.Thr1375Ile)
c.4049C>T (p.Thr1350Ile)
c.815C>T (p.Thr272Ile)
c.677C>T (p.Thr226Ile)
c.3239C>T (p.Thr1080Ile)
c.4004C>T (p.Thr1335Ile)
c.3986C>T (p.Thr1329Ile)
c.695C>T (p.Thr232Ile)
c.737C>T (p.Thr246Ile)
c.448C>T
c.701C>T (p.Thr234Ile)
c.*3910C>T (n.*3910C>T)
c.421C>T
c.818C>T (p.Thr273Ile)
c.440C>T (p.Thr147Ile)
c.443C>T (p.Thr148Ile)
c.5-27051C>T (n.5-27051C>T)
c.-43-16481C>T (n.-43-16481C>T)
c.-99+34269C>T (n.-99+34269C>T)
n.4263C>T
n.4304C>T
 dbSNP
17g.43091002G>CCA002646BRCA1c.4127C>G (p.Thr1376Arg)
c.4001C>G (p.Thr1334Arg)
c.4124C>G (p.Thr1375Arg)
c.4049C>G (p.Thr1350Arg)
c.815C>G (p.Thr272Arg)
c.677C>G (p.Thr226Arg)
c.3239C>G (p.Thr1080Arg)
c.4004C>G (p.Thr1335Arg)
c.3986C>G (p.Thr1329Arg)
c.695C>G (p.Thr232Arg)
c.737C>G (p.Thr246Arg)
c.448C>G
c.701C>G (p.Thr234Arg)
c.*3910C>G (n.*3910C>G)
c.421C>G
c.818C>G (p.Thr273Arg)
c.440C>G (p.Thr147Arg)
c.443C>G (p.Thr148Arg)
c.5-27051C>G (n.5-27051C>G)
c.-43-16481C>G (n.-43-16481C>G)
c.-99+34269C>G (n.-99+34269C>G)
n.4263C>G
n.4304C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091002G=CA2260781697BRCA1c.4127C= (p.Thr1376=)
c.4001C= (p.Thr1334=)
c.4124C= (p.Thr1375=)
c.4049C= (p.Thr1350=)
c.815C= (p.Thr272=)
c.677C= (p.Thr226=)
c.3239C= (p.Thr1080=)
c.4004C= (p.Thr1335=)
c.3986C= (p.Thr1329=)
c.695C= (p.Thr232=)
c.737C= (p.Thr246=)
c.448C=
c.701C= (p.Thr234=)
c.*3910C= (n.*3910C=)
c.421C=
c.818C= (p.Thr273=)
c.440C= (p.Thr147=)
c.443C= (p.Thr148=)
c.5-27051C= (n.5-27051C=)
c.-43-16481C= (n.-43-16481C=)
c.-99+34269C= (n.-99+34269C=)
n.4263C=
n.4304C=
17g.43091002G>TCA10593469BRCA1c.4127C>A (p.Thr1376Lys)
c.4001C>A (p.Thr1334Lys)
c.4124C>A (p.Thr1375Lys)
c.4049C>A (p.Thr1350Lys)
c.815C>A (p.Thr272Lys)
c.677C>A (p.Thr226Lys)
c.3239C>A (p.Thr1080Lys)
c.4004C>A (p.Thr1335Lys)
c.3986C>A (p.Thr1329Lys)
c.695C>A (p.Thr232Lys)
c.737C>A (p.Thr246Lys)
c.448C>A
c.701C>A (p.Thr234Lys)
c.*3910C>A (n.*3910C>A)
c.421C>A
c.818C>A (p.Thr273Lys)
c.440C>A (p.Thr147Lys)
c.443C>A (p.Thr148Lys)
c.5-27051C>A (n.5-27051C>A)
c.-43-16481C>A (n.-43-16481C>A)
c.-99+34269C>A (n.-99+34269C>A)
n.4263C>A
n.4304C>A
17g.43091003T>ACA10593470BRCA1c.4126A>T (p.Thr1376Ser)
c.4000A>T (p.Thr1334Ser)
c.4123A>T (p.Thr1375Ser)
c.4048A>T (p.Thr1350Ser)
c.814A>T (p.Thr272Ser)
c.676A>T (p.Thr226Ser)
c.3238A>T (p.Thr1080Ser)
c.4003A>T (p.Thr1335Ser)
c.3985A>T (p.Thr1329Ser)
c.694A>T (p.Thr232Ser)
c.736A>T (p.Thr246Ser)
c.447A>T
c.700A>T (p.Thr234Ser)
c.*3909A>T (n.*3909A>T)
c.420A>T
c.817A>T (p.Thr273Ser)
c.439A>T (p.Thr147Ser)
c.442A>T (p.Thr148Ser)
c.5-27052A>T (n.5-27052A>T)
c.-43-16482A>T (n.-43-16482A>T)
c.-99+34268A>T (n.-99+34268A>T)
n.4262A>T
n.4303A>T
 dbSNP
17g.43091003T>CCA10593471BRCA1c.4126A>G (p.Thr1376Ala)
c.4000A>G (p.Thr1334Ala)
c.4123A>G (p.Thr1375Ala)
c.4048A>G (p.Thr1350Ala)
c.814A>G (p.Thr272Ala)
c.676A>G (p.Thr226Ala)
c.3238A>G (p.Thr1080Ala)
c.4003A>G (p.Thr1335Ala)
c.3985A>G (p.Thr1329Ala)
c.694A>G (p.Thr232Ala)
c.736A>G (p.Thr246Ala)
c.447A>G
c.700A>G (p.Thr234Ala)
c.*3909A>G (n.*3909A>G)
c.420A>G
c.817A>G (p.Thr273Ala)
c.439A>G (p.Thr147Ala)
c.442A>G (p.Thr148Ala)
c.5-27052A>G (n.5-27052A>G)
c.-43-16482A>G (n.-43-16482A>G)
c.-99+34268A>G (n.-99+34268A>G)
n.4262A>G
n.4303A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43091003T>GCA10593472BRCA1c.4126A>C (p.Thr1376Pro)
c.4000A>C (p.Thr1334Pro)
c.4123A>C (p.Thr1375Pro)
c.4048A>C (p.Thr1350Pro)
c.814A>C (p.Thr272Pro)
c.676A>C (p.Thr226Pro)
c.3238A>C (p.Thr1080Pro)
c.4003A>C (p.Thr1335Pro)
c.3985A>C (p.Thr1329Pro)
c.694A>C (p.Thr232Pro)
c.736A>C (p.Thr246Pro)
c.447A>C
c.700A>C (p.Thr234Pro)
c.*3909A>C (n.*3909A>C)
c.420A>C
c.817A>C (p.Thr273Pro)
c.439A>C (p.Thr147Pro)
c.442A>C (p.Thr148Pro)
c.5-27052A>C (n.5-27052A>C)
c.-43-16482A>C (n.-43-16482A>C)
c.-99+34268A>C (n.-99+34268A>C)
n.4262A>C
n.4303A>C
17g.43091003T=CA2260781698BRCA1c.4126A= (p.Thr1376=)
c.4000A= (p.Thr1334=)
c.4123A= (p.Thr1375=)
c.4048A= (p.Thr1350=)
c.814A= (p.Thr272=)
c.676A= (p.Thr226=)
c.3238A= (p.Thr1080=)
c.4003A= (p.Thr1335=)
c.3985A= (p.Thr1329=)
c.694A= (p.Thr232=)
c.736A= (p.Thr246=)
c.447A=
c.700A= (p.Thr234=)
c.*3909A= (n.*3909A=)
c.420A=
c.817A= (p.Thr273=)
c.439A= (p.Thr147=)
c.442A= (p.Thr148=)
c.5-27052A= (n.5-27052A=)
c.-43-16482A= (n.-43-16482A=)
c.-99+34268A= (n.-99+34268A=)
n.4262A=
n.4303A=
17g.43091004T>ACA10593473BRCA1c.4125A>T (p.Glu1375Asp)
c.3999A>T (p.Glu1333Asp)
c.4122A>T (p.Glu1374Asp)
c.4047A>T (p.Glu1349Asp)
c.813A>T (p.Glu271Asp)
c.675A>T (p.Glu225Asp)
c.3237A>T (p.Glu1079Asp)
c.4002A>T (p.Glu1334Asp)
c.3984A>T (p.Glu1328Asp)
c.693A>T (p.Glu231Asp)
c.735A>T (p.Glu245Asp)
c.446A>T
c.699A>T (p.Glu233Asp)
c.*3908A>T (n.*3908A>T)
c.419A>T
c.816A>T (p.Glu272Asp)
c.438A>T (p.Glu146Asp)
c.441A>T (p.Glu147Asp)
c.5-27053A>T (n.5-27053A>T)
c.-43-16483A>T (n.-43-16483A>T)
c.-99+34267A>T (n.-99+34267A>T)
n.4261A>T
n.4302A>T
 dbSNP
17g.43091004T>CCA500123075BRCA1c.4125A>G (p.Glu1375=)
c.3999A>G (p.Glu1333=)
c.4122A>G (p.Glu1374=)
c.4047A>G (p.Glu1349=)
c.813A>G (p.Glu271=)
c.675A>G (p.Glu225=)
c.3237A>G (p.Glu1079=)
c.4002A>G (p.Glu1334=)
c.3984A>G (p.Glu1328=)
c.693A>G (p.Glu231=)
c.735A>G (p.Glu245=)
c.446A>G
c.699A>G (p.Glu233=)
c.*3908A>G (n.*3908A>G)
c.419A>G
c.816A>G (p.Glu272=)
c.438A>G (p.Glu146=)
c.441A>G (p.Glu147=)
c.5-27053A>G (n.5-27053A>G)
c.-43-16483A>G (n.-43-16483A>G)
c.-99+34267A>G (n.-99+34267A>G)
n.4261A>G
n.4302A>G
 dbSNP
17g.43091004T>GCA10593474BRCA1c.4125A>C (p.Glu1375Asp)
c.3999A>C (p.Glu1333Asp)
c.4122A>C (p.Glu1374Asp)
c.4047A>C (p.Glu1349Asp)
c.813A>C (p.Glu271Asp)
c.675A>C (p.Glu225Asp)
c.3237A>C (p.Glu1079Asp)
c.4002A>C (p.Glu1334Asp)
c.3984A>C (p.Glu1328Asp)
c.693A>C (p.Glu231Asp)
c.735A>C (p.Glu245Asp)
c.446A>C
c.699A>C (p.Glu233Asp)
c.*3908A>C (n.*3908A>C)
c.419A>C
c.816A>C (p.Glu272Asp)
c.438A>C (p.Glu146Asp)
c.441A>C (p.Glu147Asp)
c.5-27053A>C (n.5-27053A>C)
c.-43-16483A>C (n.-43-16483A>C)
c.-99+34267A>C (n.-99+34267A>C)
n.4261A>C
n.4302A>C
17g.43091005T>ACA10593475BRCA1c.4124A>T (p.Glu1375Val)
c.3998A>T (p.Glu1333Val)
c.4121A>T (p.Glu1374Val)
c.4046A>T (p.Glu1349Val)
c.812A>T (p.Glu271Val)
c.674A>T (p.Glu225Val)
c.3236A>T (p.Glu1079Val)
c.4001A>T (p.Glu1334Val)
c.3983A>T (p.Glu1328Val)
c.692A>T (p.Glu231Val)
c.734A>T (p.Glu245Val)
c.445A>T
c.698A>T (p.Glu233Val)
c.*3907A>T (n.*3907A>T)
c.418A>T
c.815A>T (p.Glu272Val)
c.437A>T (p.Glu146Val)
c.440A>T (p.Glu147Val)
c.5-27054A>T (n.5-27054A>T)
c.-43-16484A>T (n.-43-16484A>T)
c.-99+34266A>T (n.-99+34266A>T)
n.4260A>T
n.4301A>T
 dbSNP
17g.43091005T>CCA10593476BRCA1c.4124A>G (p.Glu1375Gly)
c.3998A>G (p.Glu1333Gly)
c.4121A>G (p.Glu1374Gly)
c.4046A>G (p.Glu1349Gly)
c.812A>G (p.Glu271Gly)
c.674A>G (p.Glu225Gly)
c.3236A>G (p.Glu1079Gly)
c.4001A>G (p.Glu1334Gly)
c.3983A>G (p.Glu1328Gly)
c.692A>G (p.Glu231Gly)
c.734A>G (p.Glu245Gly)
c.445A>G
c.698A>G (p.Glu233Gly)
c.*3907A>G (n.*3907A>G)
c.418A>G
c.815A>G (p.Glu272Gly)
c.437A>G (p.Glu146Gly)
c.440A>G (p.Glu147Gly)
c.5-27054A>G (n.5-27054A>G)
c.-43-16484A>G (n.-43-16484A>G)
c.-99+34266A>G (n.-99+34266A>G)
n.4260A>G
n.4301A>G
 ClinVar dbSNP
17g.43091005T>GCA10593477BRCA1c.4124A>C (p.Glu1375Ala)
c.3998A>C (p.Glu1333Ala)
c.4121A>C (p.Glu1374Ala)
c.4046A>C (p.Glu1349Ala)
c.812A>C (p.Glu271Ala)
c.674A>C (p.Glu225Ala)
c.3236A>C (p.Glu1079Ala)
c.4001A>C (p.Glu1334Ala)
c.3983A>C (p.Glu1328Ala)
c.692A>C (p.Glu231Ala)
c.734A>C (p.Glu245Ala)
c.445A>C
c.698A>C (p.Glu233Ala)
c.*3907A>C (n.*3907A>C)
c.418A>C
c.815A>C (p.Glu272Ala)
c.437A>C (p.Glu146Ala)
c.440A>C (p.Glu147Ala)
c.5-27054A>C (n.5-27054A>C)
c.-43-16484A>C (n.-43-16484A>C)
c.-99+34266A>C (n.-99+34266A>C)
n.4260A>C
n.4301A>C
17g.43091005_43091007delinsTCACA2260781699BRCA1c.4122_4124delinsTGA (p.Ser1374=)
c.3996_3998delinsTGA (p.Ser1332=)
c.4119_4121delinsTGA (p.Ser1373=)
c.4044_4046delinsTGA (p.Ser1348=)
c.810_812delinsTGA (p.Ser270=)
c.672_674delinsTGA (p.Ser224=)
c.3234_3236delinsTGA (p.Ser1078=)
c.3999_4001delinsTGA (p.Ser1333=)
c.3981_3983delinsTGA (p.Ser1327=)
c.690_692delinsTGA (p.Ser230=)
c.732_734delinsTGA (p.Ser244=)
c.443_445delinsTGA
c.696_698delinsTGA (p.Ser232=)
c.*3905_*3907delinsTGA (n.*3905_*3907delinsTGA)
c.416_418delinsTGA
c.813_815delinsTGA (p.Ser271=)
c.435_437delinsTGA (p.Ser145=)
c.438_440delinsTGA (p.Ser146=)
c.5-27056_5-27054delinsTGA (n.5-27056_5-27054delinsTGA)
c.-43-16486_-43-16484delinsTGA (n.-43-16486_-43-16484delinsTGA)
c.-99+34264_-99+34266delinsTGA (n.-99+34264_-99+34266delinsTGA)
n.4258_4260delinsTGA
n.4299_4301delinsTGA
17g.43091006C>ACA002644BRCA1c.4123G>T (p.Glu1375Ter)
c.3997G>T (p.Glu1333Ter)
c.4120G>T (p.Glu1374Ter)
c.4045G>T (p.Glu1349Ter)
c.811G>T (p.Glu271Ter)
c.673G>T (p.Glu225Ter)
c.3235G>T (p.Glu1079Ter)
c.4000G>T (p.Glu1334Ter)
c.3982G>T (p.Glu1328Ter)
c.691G>T (p.Glu231Ter)
c.733G>T (p.Glu245Ter)
c.444G>T
c.697G>T (p.Glu233Ter)
c.*3906G>T (n.*3906G>T)
c.417G>T
c.814G>T (p.Glu272Ter)
c.436G>T (p.Glu146Ter)
c.439G>T (p.Glu147Ter)
c.5-27055G>T (n.5-27055G>T)
c.-43-16485G>T (n.-43-16485G>T)
c.-99+34265G>T (n.-99+34265G>T)
n.4259G>T
n.4300G>T
 ClinVar dbSNP gnomAD v4
17g.43091006C=CA2260781700BRCA1c.4123G= (p.Glu1375=)
c.3997G= (p.Glu1333=)
c.4120G= (p.Glu1374=)
c.4045G= (p.Glu1349=)
c.811G= (p.Glu271=)
c.673G= (p.Glu225=)
c.3235G= (p.Glu1079=)
c.4000G= (p.Glu1334=)
c.3982G= (p.Glu1328=)
c.691G= (p.Glu231=)
c.733G= (p.Glu245=)
c.444G=
c.697G= (p.Glu233=)
c.*3906G= (n.*3906G=)
c.417G=
c.814G= (p.Glu272=)
c.436G= (p.Glu146=)
c.439G= (p.Glu147=)
c.5-27055G= (n.5-27055G=)
c.-43-16485G= (n.-43-16485G=)
c.-99+34265G= (n.-99+34265G=)
n.4259G=
n.4300G=
17g.43091006C>GCA10593478BRCA1c.4123G>C (p.Glu1375Gln)
c.3997G>C (p.Glu1333Gln)
c.4120G>C (p.Glu1374Gln)
c.4045G>C (p.Glu1349Gln)
c.811G>C (p.Glu271Gln)
c.673G>C (p.Glu225Gln)
c.3235G>C (p.Glu1079Gln)
c.4000G>C (p.Glu1334Gln)
c.3982G>C (p.Glu1328Gln)
c.691G>C (p.Glu231Gln)
c.733G>C (p.Glu245Gln)
c.444G>C
c.697G>C (p.Glu233Gln)
c.*3906G>C (n.*3906G>C)
c.417G>C
c.814G>C (p.Glu272Gln)
c.436G>C (p.Glu146Gln)
c.439G>C (p.Glu147Gln)
c.5-27055G>C (n.5-27055G>C)
c.-43-16485G>C (n.-43-16485G>C)
c.-99+34265G>C (n.-99+34265G>C)
n.4259G>C
n.4300G>C
 dbSNP
17g.43091006C>TCA10593479BRCA1c.4123G>A (p.Glu1375Lys)
c.3997G>A (p.Glu1333Lys)
c.4120G>A (p.Glu1374Lys)
c.4045G>A (p.Glu1349Lys)
c.811G>A (p.Glu271Lys)
c.673G>A (p.Glu225Lys)
c.3235G>A (p.Glu1079Lys)
c.4000G>A (p.Glu1334Lys)
c.3982G>A (p.Glu1328Lys)
c.691G>A (p.Glu231Lys)
c.733G>A (p.Glu245Lys)
c.444G>A
c.697G>A (p.Glu233Lys)
c.*3906G>A (n.*3906G>A)
c.417G>A
c.814G>A (p.Glu272Lys)
c.436G>A (p.Glu146Lys)
c.439G>A (p.Glu147Lys)
c.5-27055G>A (n.5-27055G>A)
c.-43-16485G>A (n.-43-16485G>A)
c.-99+34265G>A (n.-99+34265G>A)
n.4259G>A
n.4300G>A
 ClinVar dbSNP
17g.43091007_43091008delCA002643BRCA1c.4122_4123del (p.Ser1374ArgfsTer6)
c.3996_3997del (p.Ser1332ArgfsTer6)
c.4119_4120del (p.Ser1373ArgfsTer6)
c.4044_4045del (p.Ser1348ArgfsTer6)
c.810_811del (p.Ser270ArgfsTer6)
c.672_673del (p.Ser224ArgfsTer6)
c.3234_3235del (p.Ser1078ArgfsTer6)
c.3999_4000del (p.Ser1333ArgfsTer6)
c.3981_3982del (p.Ser1327ArgfsTer6)
c.690_691del (p.Ser230ArgfsTer6)
c.732_733del (p.Ser244ArgfsTer6)
c.443_444del
c.696_697del (p.Ser232ArgfsTer6)
c.*3905_*3906del (n.*3905_*3906del)
c.416_417del
c.813_814del (p.Ser271ArgfsTer6)
c.435_436del (p.Ser145ArgfsTer6)
c.438_439del (p.Ser146ArgfsTer6)
c.5-27056_5-27055del (n.5-27056_5-27055del)
c.-43-16486_-43-16485del (n.-43-16486_-43-16485del)
c.-99+34264_-99+34265del (n.-99+34264_-99+34265del)
n.4258_4259del
n.4299_4300del
 ClinVar dbSNP
17g.43091007A=CA2260781702BRCA1c.4122T= (p.Ser1374=)
c.3996T= (p.Ser1332=)
c.4119T= (p.Ser1373=)
c.4044T= (p.Ser1348=)
c.810T= (p.Ser270=)
c.672T= (p.Ser224=)
c.3234T= (p.Ser1078=)
c.3999T= (p.Ser1333=)
c.3981T= (p.Ser1327=)
c.690T= (p.Ser230=)
c.732T= (p.Ser244=)
c.443T=
c.696T= (p.Ser232=)
c.*3905T= (n.*3905T=)
c.416T=
c.813T= (p.Ser271=)
c.435T= (p.Ser145=)
c.438T= (p.Ser146=)
c.5-27056T= (n.5-27056T=)
c.-43-16486T= (n.-43-16486T=)
c.-99+34264T= (n.-99+34264T=)
n.4258T=
n.4299T=
17g.43091007A>CCA10593480BRCA1c.4122T>G (p.Ser1374Arg)
c.3996T>G (p.Ser1332Arg)
c.4119T>G (p.Ser1373Arg)
c.4044T>G (p.Ser1348Arg)
c.810T>G (p.Ser270Arg)
c.672T>G (p.Ser224Arg)
c.3234T>G (p.Ser1078Arg)
c.3999T>G (p.Ser1333Arg)
c.3981T>G (p.Ser1327Arg)
c.690T>G (p.Ser230Arg)
c.732T>G (p.Ser244Arg)
c.443T>G
c.696T>G (p.Ser232Arg)
c.*3905T>G (n.*3905T>G)
c.416T>G
c.813T>G (p.Ser271Arg)
c.435T>G (p.Ser145Arg)
c.438T>G (p.Ser146Arg)
c.5-27056T>G (n.5-27056T>G)
c.-43-16486T>G (n.-43-16486T>G)
c.-99+34264T>G (n.-99+34264T>G)
n.4258T>G
n.4299T>G
 dbSNP gnomAD v4
17g.43091007A>GCA500123089BRCA1c.4122T>C (p.Ser1374=)
c.3996T>C (p.Ser1332=)
c.4119T>C (p.Ser1373=)
c.4044T>C (p.Ser1348=)
c.810T>C (p.Ser270=)
c.672T>C (p.Ser224=)
c.3234T>C (p.Ser1078=)
c.3999T>C (p.Ser1333=)
c.3981T>C (p.Ser1327=)
c.690T>C (p.Ser230=)
c.732T>C (p.Ser244=)
c.443T>C
c.696T>C (p.Ser232=)
c.*3905T>C (n.*3905T>C)
c.416T>C
c.813T>C (p.Ser271=)
c.435T>C (p.Ser145=)
c.438T>C (p.Ser146=)
c.5-27056T>C (n.5-27056T>C)
c.-43-16486T>C (n.-43-16486T>C)
c.-99+34264T>C (n.-99+34264T>C)
n.4258T>C
n.4299T>C
 COSMIC COSMIC
17g.43091007A>TCA10593481BRCA1c.4122T>A (p.Ser1374Arg)
c.3996T>A (p.Ser1332Arg)
c.4119T>A (p.Ser1373Arg)
c.4044T>A (p.Ser1348Arg)
c.810T>A (p.Ser270Arg)
c.672T>A (p.Ser224Arg)
c.3234T>A (p.Ser1078Arg)
c.3999T>A (p.Ser1333Arg)
c.3981T>A (p.Ser1327Arg)
c.690T>A (p.Ser230Arg)
c.732T>A (p.Ser244Arg)
c.443T>A
c.696T>A (p.Ser232Arg)
c.*3905T>A (n.*3905T>A)
c.416T>A
c.813T>A (p.Ser271Arg)
c.435T>A (p.Ser145Arg)
c.438T>A (p.Ser146Arg)
c.5-27056T>A (n.5-27056T>A)
c.-43-16486T>A (n.-43-16486T>A)
c.-99+34264T>A (n.-99+34264T>A)
n.4258T>A
n.4299T>A
 ClinVar dbSNP
17g.43091007_43091009delinsACTCA2260781701BRCA1c.4120_4122delinsAGT (p.Ser1374=)
c.3994_3996delinsAGT (p.Ser1332=)
c.4117_4119delinsAGT (p.Ser1373=)
c.4042_4044delinsAGT (p.Ser1348=)
c.808_810delinsAGT (p.Ser270=)
c.670_672delinsAGT (p.Ser224=)
c.3232_3234delinsAGT (p.Ser1078=)
c.3997_3999delinsAGT (p.Ser1333=)
c.3979_3981delinsAGT (p.Ser1327=)
c.688_690delinsAGT (p.Ser230=)
c.730_732delinsAGT (p.Ser244=)
c.441_443delinsAGT
c.694_696delinsAGT (p.Ser232=)
c.*3903_*3905delinsAGT (n.*3903_*3905delinsAGT)
c.414_416delinsAGT
c.811_813delinsAGT (p.Ser271=)
c.433_435delinsAGT (p.Ser145=)
c.436_438delinsAGT (p.Ser146=)
c.5-27058_5-27056delinsAGT (n.5-27058_5-27056delinsAGT)
c.-43-16488_-43-16486delinsAGT (n.-43-16488_-43-16486delinsAGT)
c.-99+34262_-99+34264delinsAGT (n.-99+34262_-99+34264delinsAGT)
n.4256_4258delinsAGT
n.4297_4299delinsAGT
17g.43091008C>ACA10593482BRCA1c.4121G>T (p.Ser1374Ile)
c.3995G>T (p.Ser1332Ile)
c.4118G>T (p.Ser1373Ile)
c.4043G>T (p.Ser1348Ile)
c.809G>T (p.Ser270Ile)
c.671G>T (p.Ser224Ile)
c.3233G>T (p.Ser1078Ile)
c.3998G>T (p.Ser1333Ile)
c.3980G>T (p.Ser1327Ile)
c.689G>T (p.Ser230Ile)
c.731G>T (p.Ser244Ile)
c.442G>T
c.695G>T (p.Ser232Ile)
c.*3904G>T (n.*3904G>T)
c.415G>T
c.812G>T (p.Ser271Ile)
c.434G>T (p.Ser145Ile)
c.437G>T (p.Ser146Ile)
c.5-27057G>T (n.5-27057G>T)
c.-43-16487G>T (n.-43-16487G>T)
c.-99+34263G>T (n.-99+34263G>T)
n.4257G>T
n.4298G>T
 dbSNP gnomAD v4

Number of alleles fetched