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.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.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
17g.43091008C=CA2260781703BRCA1c.4121G= (p.Ser1374=)
c.3995G= (p.Ser1332=)
c.4118G= (p.Ser1373=)
c.4043G= (p.Ser1348=)
c.809G= (p.Ser270=)
c.671G= (p.Ser224=)
c.3233G= (p.Ser1078=)
c.3998G= (p.Ser1333=)
c.3980G= (p.Ser1327=)
c.689G= (p.Ser230=)
c.731G= (p.Ser244=)
c.442G=
c.695G= (p.Ser232=)
c.*3904G= (n.*3904G=)
c.415G=
c.812G= (p.Ser271=)
c.434G= (p.Ser145=)
c.437G= (p.Ser146=)
c.5-27057G= (n.5-27057G=)
c.-43-16487G= (n.-43-16487G=)
c.-99+34263G= (n.-99+34263G=)
n.4257G=
n.4298G=
17g.43091008C>GCA10593483BRCA1c.4121G>C (p.Ser1374Thr)
c.3995G>C (p.Ser1332Thr)
c.4118G>C (p.Ser1373Thr)
c.4043G>C (p.Ser1348Thr)
c.809G>C (p.Ser270Thr)
c.671G>C (p.Ser224Thr)
c.3233G>C (p.Ser1078Thr)
c.3998G>C (p.Ser1333Thr)
c.3980G>C (p.Ser1327Thr)
c.689G>C (p.Ser230Thr)
c.731G>C (p.Ser244Thr)
c.442G>C
c.695G>C (p.Ser232Thr)
c.*3904G>C (n.*3904G>C)
c.415G>C
c.812G>C (p.Ser271Thr)
c.434G>C (p.Ser145Thr)
c.437G>C (p.Ser146Thr)
c.5-27057G>C (n.5-27057G>C)
c.-43-16487G>C (n.-43-16487G>C)
c.-99+34263G>C (n.-99+34263G>C)
n.4257G>C
n.4298G>C
 dbSNP
17g.43091008C>TCA10593484BRCA1c.4121G>A (p.Ser1374Asn)
c.3995G>A (p.Ser1332Asn)
c.4118G>A (p.Ser1373Asn)
c.4043G>A (p.Ser1348Asn)
c.809G>A (p.Ser270Asn)
c.671G>A (p.Ser224Asn)
c.3233G>A (p.Ser1078Asn)
c.3998G>A (p.Ser1333Asn)
c.3980G>A (p.Ser1327Asn)
c.689G>A (p.Ser230Asn)
c.731G>A (p.Ser244Asn)
c.442G>A
c.695G>A (p.Ser232Asn)
c.*3904G>A (n.*3904G>A)
c.415G>A
c.812G>A (p.Ser271Asn)
c.434G>A (p.Ser145Asn)
c.437G>A (p.Ser146Asn)
c.5-27057G>A (n.5-27057G>A)
c.-43-16487G>A (n.-43-16487G>A)
c.-99+34263G>A (n.-99+34263G>A)
n.4257G>A
n.4298G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43091011_43091012delCA002642BRCA1c.4120_4121del (p.Ser1374Ter)
c.3994_3995del (p.Ser1332Ter)
c.4117_4118del (p.Ser1373Ter)
c.4042_4043del (p.Ser1348Ter)
c.808_809del (p.Ser270Ter)
c.670_671del (p.Ser224Ter)
c.3232_3233del (p.Ser1078Ter)
c.3997_3998del (p.Ser1333Ter)
c.3979_3980del (p.Ser1327Ter)
c.688_689del (p.Ser230Ter)
c.730_731del (p.Ser244Ter)
c.441_442del
c.694_695del (p.Ser232Ter)
c.*3903_*3904del (n.*3903_*3904del)
c.414_415del
c.811_812del (p.Ser271Ter)
c.433_434del (p.Ser145Ter)
c.436_437del (p.Ser146Ter)
c.5-27058_5-27057del (n.5-27058_5-27057del)
c.-43-16488_-43-16487del (n.-43-16488_-43-16487del)
c.-99+34262_-99+34263del (n.-99+34262_-99+34263del)
n.4256_4257del
n.4297_4298del
 ClinVar dbSNP gnomAD v4
17g.43091009T>ACA10593485BRCA1c.4120A>T (p.Ser1374Cys)
c.3994A>T (p.Ser1332Cys)
c.4117A>T (p.Ser1373Cys)
c.4042A>T (p.Ser1348Cys)
c.808A>T (p.Ser270Cys)
c.670A>T (p.Ser224Cys)
c.3232A>T (p.Ser1078Cys)
c.3997A>T (p.Ser1333Cys)
c.3979A>T (p.Ser1327Cys)
c.688A>T (p.Ser230Cys)
c.730A>T (p.Ser244Cys)
c.441A>T
c.694A>T (p.Ser232Cys)
c.*3903A>T (n.*3903A>T)
c.414A>T
c.811A>T (p.Ser271Cys)
c.433A>T (p.Ser145Cys)
c.436A>T (p.Ser146Cys)
c.5-27058A>T (n.5-27058A>T)
c.-43-16488A>T (n.-43-16488A>T)
c.-99+34262A>T (n.-99+34262A>T)
n.4256A>T
n.4297A>T
 ClinVar dbSNP
17g.43091009T>CCA10593486BRCA1c.4120A>G (p.Ser1374Gly)
c.3994A>G (p.Ser1332Gly)
c.4117A>G (p.Ser1373Gly)
c.4042A>G (p.Ser1348Gly)
c.808A>G (p.Ser270Gly)
c.670A>G (p.Ser224Gly)
c.3232A>G (p.Ser1078Gly)
c.3997A>G (p.Ser1333Gly)
c.3979A>G (p.Ser1327Gly)
c.688A>G (p.Ser230Gly)
c.730A>G (p.Ser244Gly)
c.441A>G
c.694A>G (p.Ser232Gly)
c.*3903A>G (n.*3903A>G)
c.414A>G
c.811A>G (p.Ser271Gly)
c.433A>G (p.Ser145Gly)
c.436A>G (p.Ser146Gly)
c.5-27058A>G (n.5-27058A>G)
c.-43-16488A>G (n.-43-16488A>G)
c.-99+34262A>G (n.-99+34262A>G)
n.4256A>G
n.4297A>G
 ClinVar
17g.43091009T>GCA10593487BRCA1c.4120A>C (p.Ser1374Arg)
c.3994A>C (p.Ser1332Arg)
c.4117A>C (p.Ser1373Arg)
c.4042A>C (p.Ser1348Arg)
c.808A>C (p.Ser270Arg)
c.670A>C (p.Ser224Arg)
c.3232A>C (p.Ser1078Arg)
c.3997A>C (p.Ser1333Arg)
c.3979A>C (p.Ser1327Arg)
c.688A>C (p.Ser230Arg)
c.730A>C (p.Ser244Arg)
c.441A>C
c.694A>C (p.Ser232Arg)
c.*3903A>C (n.*3903A>C)
c.414A>C
c.811A>C (p.Ser271Arg)
c.433A>C (p.Ser145Arg)
c.436A>C (p.Ser146Arg)
c.5-27058A>C (n.5-27058A>C)
c.-43-16488A>C (n.-43-16488A>C)
c.-99+34262A>C (n.-99+34262A>C)
n.4256A>C
n.4297A>C
17g.43091010C>ACA10593488BRCA1c.4119G>T (p.Glu1373Asp)
c.3993G>T (p.Glu1331Asp)
c.4116G>T (p.Glu1372Asp)
c.4041G>T (p.Glu1347Asp)
c.807G>T (p.Glu269Asp)
c.669G>T (p.Glu223Asp)
c.3231G>T (p.Glu1077Asp)
c.3996G>T (p.Glu1332Asp)
c.3978G>T (p.Glu1326Asp)
c.687G>T (p.Glu229Asp)
c.729G>T (p.Glu243Asp)
c.440G>T
c.693G>T (p.Glu231Asp)
c.*3902G>T (n.*3902G>T)
c.413G>T
c.810G>T (p.Glu270Asp)
c.432G>T (p.Glu144Asp)
c.435G>T (p.Glu145Asp)
c.5-27059G>T (n.5-27059G>T)
c.-43-16489G>T (n.-43-16489G>T)
c.-99+34261G>T (n.-99+34261G>T)
n.4255G>T
n.4296G>T
 gnomAD v4
17g.43091010C>GCA10593489BRCA1c.4119G>C (p.Glu1373Asp)
c.3993G>C (p.Glu1331Asp)
c.4116G>C (p.Glu1372Asp)
c.4041G>C (p.Glu1347Asp)
c.807G>C (p.Glu269Asp)
c.669G>C (p.Glu223Asp)
c.3231G>C (p.Glu1077Asp)
c.3996G>C (p.Glu1332Asp)
c.3978G>C (p.Glu1326Asp)
c.687G>C (p.Glu229Asp)
c.729G>C (p.Glu243Asp)
c.440G>C
c.693G>C (p.Glu231Asp)
c.*3902G>C (n.*3902G>C)
c.413G>C
c.810G>C (p.Glu270Asp)
c.432G>C (p.Glu144Asp)
c.435G>C (p.Glu145Asp)
c.5-27059G>C (n.5-27059G>C)
c.-43-16489G>C (n.-43-16489G>C)
c.-99+34261G>C (n.-99+34261G>C)
n.4255G>C
n.4296G>C
 dbSNP
17g.43091010C>TCA500123101BRCA1c.4119G>A (p.Glu1373=)
c.3993G>A (p.Glu1331=)
c.4116G>A (p.Glu1372=)
c.4041G>A (p.Glu1347=)
c.807G>A (p.Glu269=)
c.669G>A (p.Glu223=)
c.3231G>A (p.Glu1077=)
c.3996G>A (p.Glu1332=)
c.3978G>A (p.Glu1326=)
c.687G>A (p.Glu229=)
c.729G>A (p.Glu243=)
c.440G>A
c.693G>A (p.Glu231=)
c.*3902G>A (n.*3902G>A)
c.413G>A
c.810G>A (p.Glu270=)
c.432G>A (p.Glu144=)
c.435G>A (p.Glu145=)
c.5-27059G>A (n.5-27059G>A)
c.-43-16489G>A (n.-43-16489G>A)
c.-99+34261G>A (n.-99+34261G>A)
n.4255G>A
n.4296G>A
 ClinVar dbSNP
17g.43091011T>ACA10593490BRCA1c.4118A>T (p.Glu1373Val)
c.3992A>T (p.Glu1331Val)
c.4115A>T (p.Glu1372Val)
c.4040A>T (p.Glu1347Val)
c.806A>T (p.Glu269Val)
c.668A>T (p.Glu223Val)
c.3230A>T (p.Glu1077Val)
c.3995A>T (p.Glu1332Val)
c.3977A>T (p.Glu1326Val)
c.686A>T (p.Glu229Val)
c.728A>T (p.Glu243Val)
c.439A>T
c.692A>T (p.Glu231Val)
c.*3901A>T (n.*3901A>T)
c.412A>T
c.809A>T (p.Glu270Val)
c.431A>T (p.Glu144Val)
c.434A>T (p.Glu145Val)
c.5-27060A>T (n.5-27060A>T)
c.-43-16490A>T (n.-43-16490A>T)
c.-99+34260A>T (n.-99+34260A>T)
n.4254A>T
n.4295A>T
17g.43091011T>CCA10593491BRCA1c.4118A>G (p.Glu1373Gly)
c.3992A>G (p.Glu1331Gly)
c.4115A>G (p.Glu1372Gly)
c.4040A>G (p.Glu1347Gly)
c.806A>G (p.Glu269Gly)
c.668A>G (p.Glu223Gly)
c.3230A>G (p.Glu1077Gly)
c.3995A>G (p.Glu1332Gly)
c.3977A>G (p.Glu1326Gly)
c.686A>G (p.Glu229Gly)
c.728A>G (p.Glu243Gly)
c.439A>G
c.692A>G (p.Glu231Gly)
c.*3901A>G (n.*3901A>G)
c.412A>G
c.809A>G (p.Glu270Gly)
c.431A>G (p.Glu144Gly)
c.434A>G (p.Glu145Gly)
c.5-27060A>G (n.5-27060A>G)
c.-43-16490A>G (n.-43-16490A>G)
c.-99+34260A>G (n.-99+34260A>G)
n.4254A>G
n.4295A>G
17g.43091011T>GCA10593492BRCA1c.4118A>C (p.Glu1373Ala)
c.3992A>C (p.Glu1331Ala)
c.4115A>C (p.Glu1372Ala)
c.4040A>C (p.Glu1347Ala)
c.806A>C (p.Glu269Ala)
c.668A>C (p.Glu223Ala)
c.3230A>C (p.Glu1077Ala)
c.3995A>C (p.Glu1332Ala)
c.3977A>C (p.Glu1326Ala)
c.686A>C (p.Glu229Ala)
c.728A>C (p.Glu243Ala)
c.439A>C
c.692A>C (p.Glu231Ala)
c.*3901A>C (n.*3901A>C)
c.412A>C
c.809A>C (p.Glu270Ala)
c.431A>C (p.Glu144Ala)
c.434A>C (p.Glu145Ala)
c.5-27060A>C (n.5-27060A>C)
c.-43-16490A>C (n.-43-16490A>C)
c.-99+34260A>C (n.-99+34260A>C)
n.4254A>C
n.4295A>C
17g.43091011T=CA2260781705BRCA1c.4118A= (p.Glu1373=)
c.3992A= (p.Glu1331=)
c.4115A= (p.Glu1372=)
c.4040A= (p.Glu1347=)
c.806A= (p.Glu269=)
c.668A= (p.Glu223=)
c.3230A= (p.Glu1077=)
c.3995A= (p.Glu1332=)
c.3977A= (p.Glu1326=)
c.686A= (p.Glu229=)
c.728A= (p.Glu243=)
c.439A=
c.692A= (p.Glu231=)
c.*3901A= (n.*3901A=)
c.412A=
c.809A= (p.Glu270=)
c.431A= (p.Glu144=)
c.434A= (p.Glu145=)
c.5-27060A= (n.5-27060A=)
c.-43-16490A= (n.-43-16490A=)
c.-99+34260A= (n.-99+34260A=)
n.4254A=
n.4295A=
17g.43091011_43091013delinsTCACA2260781704BRCA1c.4116_4118delinsTGA (p.Cys1372=)
c.3990_3992delinsTGA (p.Cys1330=)
c.4113_4115delinsTGA (p.Cys1371=)
c.4038_4040delinsTGA (p.Cys1346=)
c.804_806delinsTGA (p.Cys268=)
c.666_668delinsTGA (p.Cys222=)
c.3228_3230delinsTGA (p.Cys1076=)
c.3993_3995delinsTGA (p.Cys1331=)
c.3975_3977delinsTGA (p.Cys1325=)
c.684_686delinsTGA (p.Cys228=)
c.726_728delinsTGA (p.Cys242=)
c.437_439delinsTGA
c.690_692delinsTGA (p.Cys230=)
c.*3899_*3901delinsTGA (n.*3899_*3901delinsTGA)
c.410_412delinsTGA
c.807_809delinsTGA (p.Cys269=)
c.429_431delinsTGA (p.Cys143=)
c.432_434delinsTGA (p.Cys144=)
c.5-27062_5-27060delinsTGA (n.5-27062_5-27060delinsTGA)
c.-43-16492_-43-16490delinsTGA (n.-43-16492_-43-16490delinsTGA)
c.-99+34258_-99+34260delinsTGA (n.-99+34258_-99+34260delinsTGA)
n.4252_4254delinsTGA
n.4293_4295delinsTGA
17g.43091011_43091012insAACA658825027BRCA1c.4117_4118insTT (p.Glu1373ValfsTer21)
c.3991_3992insTT (p.Glu1331ValfsTer21)
c.4114_4115insTT (p.Glu1372ValfsTer21)
c.4039_4040insTT (p.Glu1347ValfsTer21)
c.805_806insTT (p.Glu269ValfsTer21)
c.667_668insTT (p.Glu223ValfsTer21)
c.3229_3230insTT (p.Glu1077ValfsTer21)
c.3994_3995insTT (p.Glu1332ValfsTer21)
c.3976_3977insTT (p.Glu1326ValfsTer21)
c.685_686insTT (p.Glu229ValfsTer21)
c.727_728insTT (p.Glu243ValfsTer21)
c.438_439insTT
c.691_692insTT (p.Glu231ValfsTer21)
c.*3900_*3901insTT (n.*3900_*3901insTT)
c.411_412insTT
c.808_809insTT (p.Glu270ValfsTer21)
c.430_431insTT (p.Glu144ValfsTer21)
c.433_434insTT (p.Glu145ValfsTer21)
c.5-27061_5-27060insTT (n.5-27061_5-27060insTT)
c.-43-16491_-43-16490insTT (n.-43-16491_-43-16490insTT)
c.-99+34259_-99+34260insTT (n.-99+34259_-99+34260insTT)
n.4253_4254insTT
n.4294_4295insTT
 ClinVar dbSNP
17g.43091012C>ACA002641BRCA1c.4117G>T (p.Glu1373Ter)
c.3991G>T (p.Glu1331Ter)
c.4114G>T (p.Glu1372Ter)
c.4039G>T (p.Glu1347Ter)
c.805G>T (p.Glu269Ter)
c.667G>T (p.Glu223Ter)
c.3229G>T (p.Glu1077Ter)
c.3994G>T (p.Glu1332Ter)
c.3976G>T (p.Glu1326Ter)
c.685G>T (p.Glu229Ter)
c.727G>T (p.Glu243Ter)
c.438G>T
c.691G>T (p.Glu231Ter)
c.*3900G>T (n.*3900G>T)
c.411G>T
c.808G>T (p.Glu270Ter)
c.430G>T (p.Glu144Ter)
c.433G>T (p.Glu145Ter)
c.5-27061G>T (n.5-27061G>T)
c.-43-16491G>T (n.-43-16491G>T)
c.-99+34259G>T (n.-99+34259G>T)
n.4253G>T
n.4294G>T
 ClinVar dbSNP gnomAD v4
17g.43091012C=CA2260781706BRCA1c.4117G= (p.Glu1373=)
c.3991G= (p.Glu1331=)
c.4114G= (p.Glu1372=)
c.4039G= (p.Glu1347=)
c.805G= (p.Glu269=)
c.667G= (p.Glu223=)
c.3229G= (p.Glu1077=)
c.3994G= (p.Glu1332=)
c.3976G= (p.Glu1326=)
c.685G= (p.Glu229=)
c.727G= (p.Glu243=)
c.438G=
c.691G= (p.Glu231=)
c.*3900G= (n.*3900G=)
c.411G=
c.808G= (p.Glu270=)
c.430G= (p.Glu144=)
c.433G= (p.Glu145=)
c.5-27061G= (n.5-27061G=)
c.-43-16491G= (n.-43-16491G=)
c.-99+34259G= (n.-99+34259G=)
n.4253G=
n.4294G=
17g.43091012C>GCA10593493BRCA1c.4117G>C (p.Glu1373Gln)
c.3991G>C (p.Glu1331Gln)
c.4114G>C (p.Glu1372Gln)
c.4039G>C (p.Glu1347Gln)
c.805G>C (p.Glu269Gln)
c.667G>C (p.Glu223Gln)
c.3229G>C (p.Glu1077Gln)
c.3994G>C (p.Glu1332Gln)
c.3976G>C (p.Glu1326Gln)
c.685G>C (p.Glu229Gln)
c.727G>C (p.Glu243Gln)
c.438G>C
c.691G>C (p.Glu231Gln)
c.*3900G>C (n.*3900G>C)
c.411G>C
c.808G>C (p.Glu270Gln)
c.430G>C (p.Glu144Gln)
c.433G>C (p.Glu145Gln)
c.5-27061G>C (n.5-27061G>C)
c.-43-16491G>C (n.-43-16491G>C)
c.-99+34259G>C (n.-99+34259G>C)
n.4253G>C
n.4294G>C
 dbSNP
17g.43091012C>TCA10593494BRCA1c.4117G>A (p.Glu1373Lys)
c.3991G>A (p.Glu1331Lys)
c.4114G>A (p.Glu1372Lys)
c.4039G>A (p.Glu1347Lys)
c.805G>A (p.Glu269Lys)
c.667G>A (p.Glu223Lys)
c.3229G>A (p.Glu1077Lys)
c.3994G>A (p.Glu1332Lys)
c.3976G>A (p.Glu1326Lys)
c.685G>A (p.Glu229Lys)
c.727G>A (p.Glu243Lys)
c.438G>A
c.691G>A (p.Glu231Lys)
c.*3900G>A (n.*3900G>A)
c.411G>A
c.808G>A (p.Glu270Lys)
c.430G>A (p.Glu144Lys)
c.433G>A (p.Glu145Lys)
c.5-27061G>A (n.5-27061G>A)
c.-43-16491G>A (n.-43-16491G>A)
c.-99+34259G>A (n.-99+34259G>A)
n.4253G>A
n.4294G>A
 ClinVar dbSNP gnomAD v4
17g.43091012_43091013delinsCACA2260781707BRCA1c.4116_4117delinsTG (p.Cys1372=)
c.3990_3991delinsTG (p.Cys1330=)
c.4113_4114delinsTG (p.Cys1371=)
c.4038_4039delinsTG (p.Cys1346=)
c.804_805delinsTG (p.Cys268=)
c.666_667delinsTG (p.Cys222=)
c.3228_3229delinsTG (p.Cys1076=)
c.3993_3994delinsTG (p.Cys1331=)
c.3975_3976delinsTG (p.Cys1325=)
c.684_685delinsTG (p.Cys228=)
c.726_727delinsTG (p.Cys242=)
c.437_438delinsTG
c.690_691delinsTG (p.Cys230=)
c.*3899_*3900delinsTG (n.*3899_*3900delinsTG)
c.410_411delinsTG
c.807_808delinsTG (p.Cys269=)
c.429_430delinsTG (p.Cys143=)
c.432_433delinsTG (p.Cys144=)
c.5-27062_5-27061delinsTG (n.5-27062_5-27061delinsTG)
c.-43-16492_-43-16491delinsTG (n.-43-16492_-43-16491delinsTG)
c.-99+34258_-99+34259delinsTG (n.-99+34258_-99+34259delinsTG)
n.4252_4253delinsTG
n.4293_4294delinsTG
17g.43091015_43091016delCA002637BRCA1c.4116_4117del (p.Cys1372Ter)
c.3990_3991del (p.Cys1330Ter)
c.4113_4114del (p.Cys1371Ter)
c.4038_4039del (p.Cys1346Ter)
c.804_805del (p.Cys268Ter)
c.666_667del (p.Cys222Ter)
c.3228_3229del (p.Cys1076Ter)
c.3993_3994del (p.Cys1331Ter)
c.3975_3976del (p.Cys1325Ter)
c.684_685del (p.Cys228Ter)
c.726_727del (p.Cys242Ter)
c.437_438del
c.690_691del (p.Cys230Ter)
c.*3899_*3900del (n.*3899_*3900del)
c.410_411del
c.807_808del (p.Cys269Ter)
c.429_430del (p.Cys143Ter)
c.432_433del (p.Cys144Ter)
c.5-27062_5-27061del (n.5-27062_5-27061del)
c.-43-16492_-43-16491del (n.-43-16492_-43-16491del)
c.-99+34258_-99+34259del (n.-99+34258_-99+34259del)
n.4252_4253del
n.4293_4294del
 ClinVar dbSNP
17g.43091013delCA10589690BRCA1c.4116del (p.Cys1372TrpfsTer21)
c.3990del (p.Cys1330TrpfsTer21)
c.4113del (p.Cys1371TrpfsTer21)
c.4038del (p.Cys1346TrpfsTer21)
c.804del (p.Cys268TrpfsTer21)
c.666del (p.Cys222TrpfsTer21)
c.3228del (p.Cys1076TrpfsTer21)
c.3993del (p.Cys1331TrpfsTer21)
c.3975del (p.Cys1325TrpfsTer21)
c.684del (p.Cys228TrpfsTer21)
c.726del (p.Cys242TrpfsTer21)
c.437del
c.690del (p.Cys230TrpfsTer21)
c.*3899del (n.*3899del)
c.410del
c.807del (p.Cys269TrpfsTer21)
c.429del (p.Cys143TrpfsTer21)
c.432del (p.Cys144TrpfsTer21)
c.5-27062del (n.5-27062del)
c.-43-16492del (n.-43-16492del)
c.-99+34258del (n.-99+34258del)
n.4252del
n.4293del
 ClinVar dbSNP
17g.43091013A=CA2260781708BRCA1c.4116T= (p.Cys1372=)
c.3990T= (p.Cys1330=)
c.4113T= (p.Cys1371=)
c.4038T= (p.Cys1346=)
c.804T= (p.Cys268=)
c.666T= (p.Cys222=)
c.3228T= (p.Cys1076=)
c.3993T= (p.Cys1331=)
c.3975T= (p.Cys1325=)
c.684T= (p.Cys228=)
c.726T= (p.Cys242=)
c.437T=
c.690T= (p.Cys230=)
c.*3899T= (n.*3899T=)
c.410T=
c.807T= (p.Cys269=)
c.429T= (p.Cys143=)
c.432T= (p.Cys144=)
c.5-27062T= (n.5-27062T=)
c.-43-16492T= (n.-43-16492T=)
c.-99+34258T= (n.-99+34258T=)
n.4252T=
n.4293T=
17g.43091013A>CCA10593495BRCA1c.4116T>G (p.Cys1372Trp)
c.3990T>G (p.Cys1330Trp)
c.4113T>G (p.Cys1371Trp)
c.4038T>G (p.Cys1346Trp)
c.804T>G (p.Cys268Trp)
c.666T>G (p.Cys222Trp)
c.3228T>G (p.Cys1076Trp)
c.3993T>G (p.Cys1331Trp)
c.3975T>G (p.Cys1325Trp)
c.684T>G (p.Cys228Trp)
c.726T>G (p.Cys242Trp)
c.437T>G
c.690T>G (p.Cys230Trp)
c.*3899T>G (n.*3899T>G)
c.410T>G
c.807T>G (p.Cys269Trp)
c.429T>G (p.Cys143Trp)
c.432T>G (p.Cys144Trp)
c.5-27062T>G (n.5-27062T>G)
c.-43-16492T>G (n.-43-16492T>G)
c.-99+34258T>G (n.-99+34258T>G)
n.4252T>G
n.4293T>G
 dbSNP
17g.43091013A>GCA500123113BRCA1c.4116T>C (p.Cys1372=)
c.3990T>C (p.Cys1330=)
c.4113T>C (p.Cys1371=)
c.4038T>C (p.Cys1346=)
c.804T>C (p.Cys268=)
c.666T>C (p.Cys222=)
c.3228T>C (p.Cys1076=)
c.3993T>C (p.Cys1331=)
c.3975T>C (p.Cys1325=)
c.684T>C (p.Cys228=)
c.726T>C (p.Cys242=)
c.437T>C
c.690T>C (p.Cys230=)
c.*3899T>C (n.*3899T>C)
c.410T>C
c.807T>C (p.Cys269=)
c.429T>C (p.Cys143=)
c.432T>C (p.Cys144=)
c.5-27062T>C (n.5-27062T>C)
c.-43-16492T>C (n.-43-16492T>C)
c.-99+34258T>C (n.-99+34258T>C)
n.4252T>C
n.4293T>C
 dbSNP
17g.43091013A>TCA002640BRCA1c.4116T>A (p.Cys1372Ter)
c.3990T>A (p.Cys1330Ter)
c.4113T>A (p.Cys1371Ter)
c.4038T>A (p.Cys1346Ter)
c.804T>A (p.Cys268Ter)
c.666T>A (p.Cys222Ter)
c.3228T>A (p.Cys1076Ter)
c.3993T>A (p.Cys1331Ter)
c.3975T>A (p.Cys1325Ter)
c.684T>A (p.Cys228Ter)
c.726T>A (p.Cys242Ter)
c.437T>A
c.690T>A (p.Cys230Ter)
c.*3899T>A (n.*3899T>A)
c.410T>A
c.807T>A (p.Cys269Ter)
c.429T>A (p.Cys143Ter)
c.432T>A (p.Cys144Ter)
c.5-27062T>A (n.5-27062T>A)
c.-43-16492T>A (n.-43-16492T>A)
c.-99+34258T>A (n.-99+34258T>A)
n.4252T>A
n.4293T>A
 ClinVar dbSNP
17g.43091013_43091014insAACA002639BRCA1c.4116_4117insTT (p.Glu1373LeufsTer21)
c.3990_3991insTT (p.Glu1331LeufsTer21)
c.4113_4114insTT (p.Glu1372LeufsTer21)
c.4038_4039insTT (p.Glu1347LeufsTer21)
c.804_805insTT (p.Glu269LeufsTer21)
c.666_667insTT (p.Glu223LeufsTer21)
c.3228_3229insTT (p.Glu1077LeufsTer21)
c.3993_3994insTT (p.Glu1332LeufsTer21)
c.3975_3976insTT (p.Glu1326LeufsTer21)
c.684_685insTT (p.Glu229LeufsTer21)
c.726_727insTT (p.Glu243LeufsTer21)
c.437_438insTT
c.690_691insTT (p.Glu231LeufsTer21)
c.*3899_*3900insTT (n.*3899_*3900insTT)
c.410_411insTT
c.807_808insTT (p.Glu270LeufsTer21)
c.429_430insTT (p.Glu144LeufsTer21)
c.432_433insTT (p.Glu145LeufsTer21)
c.5-27062_5-27061insTT (n.5-27062_5-27061insTT)
c.-43-16492_-43-16491insTT (n.-43-16492_-43-16491insTT)
c.-99+34258_-99+34259insTT (n.-99+34258_-99+34259insTT)
n.4252_4253insTT
n.4293_4294insTT
 ClinVar dbSNP
17g.43091013dupCA2580094041BRCA1c.4116dup (p.Glu1373Ter)
c.3990dup (p.Glu1331Ter)
c.4113dup (p.Glu1372Ter)
c.4038dup (p.Glu1347Ter)
c.804dup (p.Glu269Ter)
c.666dup (p.Glu223Ter)
c.3228dup (p.Glu1077Ter)
c.3993dup (p.Glu1332Ter)
c.3975dup (p.Glu1326Ter)
c.684dup (p.Glu229Ter)
c.726dup (p.Glu243Ter)
c.437dup
c.690dup (p.Glu231Ter)
c.*3899dup (n.*3899dup)
c.410dup
c.807dup (p.Glu270Ter)
c.429dup (p.Glu144Ter)
c.432dup (p.Glu145Ter)
c.5-27062dup (n.5-27062dup)
c.-43-16492dup (n.-43-16492dup)
c.-99+34258dup (n.-99+34258dup)
n.4252dup
n.4293dup
 ClinVar
17g.43091014C>ACA10593496BRCA1c.4115G>T (p.Cys1372Phe)
c.3989G>T (p.Cys1330Phe)
c.4112G>T (p.Cys1371Phe)
c.4037G>T (p.Cys1346Phe)
c.803G>T (p.Cys268Phe)
c.665G>T (p.Cys222Phe)
c.3227G>T (p.Cys1076Phe)
c.3992G>T (p.Cys1331Phe)
c.3974G>T (p.Cys1325Phe)
c.683G>T (p.Cys228Phe)
c.725G>T (p.Cys242Phe)
c.436G>T
c.689G>T (p.Cys230Phe)
c.*3898G>T (n.*3898G>T)
c.409G>T
c.806G>T (p.Cys269Phe)
c.428G>T (p.Cys143Phe)
c.431G>T (p.Cys144Phe)
c.5-27063G>T (n.5-27063G>T)
c.-43-16493G>T (n.-43-16493G>T)
c.-99+34257G>T (n.-99+34257G>T)
n.4251G>T
n.4292G>T
 ClinVar
17g.43091014C=CA2260781709BRCA1c.4115G= (p.Cys1372=)
c.3989G= (p.Cys1330=)
c.4112G= (p.Cys1371=)
c.4037G= (p.Cys1346=)
c.803G= (p.Cys268=)
c.665G= (p.Cys222=)
c.3227G= (p.Cys1076=)
c.3992G= (p.Cys1331=)
c.3974G= (p.Cys1325=)
c.683G= (p.Cys228=)
c.725G= (p.Cys242=)
c.436G=
c.689G= (p.Cys230=)
c.*3898G= (n.*3898G=)
c.409G=
c.806G= (p.Cys269=)
c.428G= (p.Cys143=)
c.431G= (p.Cys144=)
c.5-27063G= (n.5-27063G=)
c.-43-16493G= (n.-43-16493G=)
c.-99+34257G= (n.-99+34257G=)
n.4251G=
n.4292G=
17g.43091014C>GCA10593497BRCA1c.4115G>C (p.Cys1372Ser)
c.3989G>C (p.Cys1330Ser)
c.4112G>C (p.Cys1371Ser)
c.4037G>C (p.Cys1346Ser)
c.803G>C (p.Cys268Ser)
c.665G>C (p.Cys222Ser)
c.3227G>C (p.Cys1076Ser)
c.3992G>C (p.Cys1331Ser)
c.3974G>C (p.Cys1325Ser)
c.683G>C (p.Cys228Ser)
c.725G>C (p.Cys242Ser)
c.436G>C
c.689G>C (p.Cys230Ser)
c.*3898G>C (n.*3898G>C)
c.409G>C
c.806G>C (p.Cys269Ser)
c.428G>C (p.Cys143Ser)
c.431G>C (p.Cys144Ser)
c.5-27063G>C (n.5-27063G>C)
c.-43-16493G>C (n.-43-16493G>C)
c.-99+34257G>C (n.-99+34257G>C)
n.4251G>C
n.4292G>C
 dbSNP
17g.43091014C>TCA002636BRCA1c.4115G>A (p.Cys1372Tyr)
c.3989G>A (p.Cys1330Tyr)
c.4112G>A (p.Cys1371Tyr)
c.4037G>A (p.Cys1346Tyr)
c.803G>A (p.Cys268Tyr)
c.665G>A (p.Cys222Tyr)
c.3227G>A (p.Cys1076Tyr)
c.3992G>A (p.Cys1331Tyr)
c.3974G>A (p.Cys1325Tyr)
c.683G>A (p.Cys228Tyr)
c.725G>A (p.Cys242Tyr)
c.436G>A
c.689G>A (p.Cys230Tyr)
c.*3898G>A (n.*3898G>A)
c.409G>A
c.806G>A (p.Cys269Tyr)
c.428G>A (p.Cys143Tyr)
c.431G>A (p.Cys144Tyr)
c.5-27063G>A (n.5-27063G>A)
c.-43-16493G>A (n.-43-16493G>A)
c.-99+34257G>A (n.-99+34257G>A)
n.4251G>A
n.4292G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43091015A=CA2260781711BRCA1c.4114T= (p.Cys1372=)
c.3988T= (p.Cys1330=)
c.4111T= (p.Cys1371=)
c.4036T= (p.Cys1346=)
c.802T= (p.Cys268=)
c.664T= (p.Cys222=)
c.3226T= (p.Cys1076=)
c.3991T= (p.Cys1331=)
c.3973T= (p.Cys1325=)
c.682T= (p.Cys228=)
c.724T= (p.Cys242=)
c.435T=
c.688T= (p.Cys230=)
c.*3897T= (n.*3897T=)
c.408T=
c.805T= (p.Cys269=)
c.427T= (p.Cys143=)
c.430T= (p.Cys144=)
c.5-27064T= (n.5-27064T=)
c.-43-16494T= (n.-43-16494T=)
c.-99+34256T= (n.-99+34256T=)
n.4250T=
n.4291T=

Number of alleles fetched