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.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.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=
17g.43091015A>CCA10593498BRCA1c.4114T>G (p.Cys1372Gly)
c.3988T>G (p.Cys1330Gly)
c.4111T>G (p.Cys1371Gly)
c.4036T>G (p.Cys1346Gly)
c.802T>G (p.Cys268Gly)
c.664T>G (p.Cys222Gly)
c.3226T>G (p.Cys1076Gly)
c.3991T>G (p.Cys1331Gly)
c.3973T>G (p.Cys1325Gly)
c.682T>G (p.Cys228Gly)
c.724T>G (p.Cys242Gly)
c.435T>G
c.688T>G (p.Cys230Gly)
c.*3897T>G (n.*3897T>G)
c.408T>G
c.805T>G (p.Cys269Gly)
c.427T>G (p.Cys143Gly)
c.430T>G (p.Cys144Gly)
c.5-27064T>G (n.5-27064T>G)
c.-43-16494T>G (n.-43-16494T>G)
c.-99+34256T>G (n.-99+34256T>G)
n.4250T>G
n.4291T>G
17g.43091015A>GCA10593499BRCA1c.4114T>C (p.Cys1372Arg)
c.3988T>C (p.Cys1330Arg)
c.4111T>C (p.Cys1371Arg)
c.4036T>C (p.Cys1346Arg)
c.802T>C (p.Cys268Arg)
c.664T>C (p.Cys222Arg)
c.3226T>C (p.Cys1076Arg)
c.3991T>C (p.Cys1331Arg)
c.3973T>C (p.Cys1325Arg)
c.682T>C (p.Cys228Arg)
c.724T>C (p.Cys242Arg)
c.435T>C
c.688T>C (p.Cys230Arg)
c.*3897T>C (n.*3897T>C)
c.408T>C
c.805T>C (p.Cys269Arg)
c.427T>C (p.Cys143Arg)
c.430T>C (p.Cys144Arg)
c.5-27064T>C (n.5-27064T>C)
c.-43-16494T>C (n.-43-16494T>C)
c.-99+34256T>C (n.-99+34256T>C)
n.4250T>C
n.4291T>C
 dbSNP gnomAD v2 gnomAD v4
17g.43091015A>TCA10593500BRCA1c.4114T>A (p.Cys1372Ser)
c.3988T>A (p.Cys1330Ser)
c.4111T>A (p.Cys1371Ser)
c.4036T>A (p.Cys1346Ser)
c.802T>A (p.Cys268Ser)
c.664T>A (p.Cys222Ser)
c.3226T>A (p.Cys1076Ser)
c.3991T>A (p.Cys1331Ser)
c.3973T>A (p.Cys1325Ser)
c.682T>A (p.Cys228Ser)
c.724T>A (p.Cys242Ser)
c.435T>A
c.688T>A (p.Cys230Ser)
c.*3897T>A (n.*3897T>A)
c.408T>A
c.805T>A (p.Cys269Ser)
c.427T>A (p.Cys143Ser)
c.430T>A (p.Cys144Ser)
c.5-27064T>A (n.5-27064T>A)
c.-43-16494T>A (n.-43-16494T>A)
c.-99+34256T>A (n.-99+34256T>A)
n.4250T>A
n.4291T>A
17g.43091015_43091016delinsACCA2260781710BRCA1c.4113_4114delinsGT (p.Gly1371=)
c.3987_3988delinsGT (p.Gly1329=)
c.4110_4111delinsGT (p.Gly1370=)
c.4035_4036delinsGT (p.Gly1345=)
c.801_802delinsGT (p.Gly267=)
c.663_664delinsGT (p.Gly221=)
c.3225_3226delinsGT (p.Gly1075=)
c.3990_3991delinsGT (p.Gly1330=)
c.3972_3973delinsGT (p.Gly1324=)
c.681_682delinsGT (p.Gly227=)
c.723_724delinsGT (p.Gly241=)
c.434_435delinsGT
c.687_688delinsGT (p.Gly229=)
c.*3896_*3897delinsGT (n.*3896_*3897delinsGT)
c.407_408delinsGT
c.804_805delinsGT (p.Gly268=)
c.426_427delinsGT (p.Gly142=)
c.429_430delinsGT (p.Gly143=)
c.5-27065_5-27064delinsGT (n.5-27065_5-27064delinsGT)
c.-43-16495_-43-16494delinsGT (n.-43-16495_-43-16494delinsGT)
c.-99+34255_-99+34256delinsGT (n.-99+34255_-99+34256delinsGT)
n.4249_4250delinsGT
n.4290_4291delinsGT
17g.43091016C>ACA16615354BRCA1c.4113G>T (p.Gly1371=)
c.3987G>T (p.Gly1329=)
c.4110G>T (p.Gly1370=)
c.4035G>T (p.Gly1345=)
c.801G>T (p.Gly267=)
c.663G>T (p.Gly221=)
c.3225G>T (p.Gly1075=)
c.3990G>T (p.Gly1330=)
c.3972G>T (p.Gly1324=)
c.681G>T (p.Gly227=)
c.723G>T (p.Gly241=)
c.434G>T
c.687G>T (p.Gly229=)
c.*3896G>T (n.*3896G>T)
c.407G>T
c.804G>T (p.Gly268=)
c.426G>T (p.Gly142=)
c.429G>T (p.Gly143=)
c.5-27065G>T (n.5-27065G>T)
c.-43-16495G>T (n.-43-16495G>T)
c.-99+34255G>T (n.-99+34255G>T)
n.4249G>T
n.4290G>T
 ClinVar dbSNP
17g.43091016C=CA2260781712BRCA1c.4113G= (p.Gly1371=)
c.3987G= (p.Gly1329=)
c.4110G= (p.Gly1370=)
c.4035G= (p.Gly1345=)
c.801G= (p.Gly267=)
c.663G= (p.Gly221=)
c.3225G= (p.Gly1075=)
c.3990G= (p.Gly1330=)
c.3972G= (p.Gly1324=)
c.681G= (p.Gly227=)
c.723G= (p.Gly241=)
c.434G=
c.687G= (p.Gly229=)
c.*3896G= (n.*3896G=)
c.407G=
c.804G= (p.Gly268=)
c.426G= (p.Gly142=)
c.429G= (p.Gly143=)
c.5-27065G= (n.5-27065G=)
c.-43-16495G= (n.-43-16495G=)
c.-99+34255G= (n.-99+34255G=)
n.4249G=
n.4290G=
17g.43091016C>GCA500123138BRCA1c.4113G>C (p.Gly1371=)
c.3987G>C (p.Gly1329=)
c.4110G>C (p.Gly1370=)
c.4035G>C (p.Gly1345=)
c.801G>C (p.Gly267=)
c.663G>C (p.Gly221=)
c.3225G>C (p.Gly1075=)
c.3990G>C (p.Gly1330=)
c.3972G>C (p.Gly1324=)
c.681G>C (p.Gly227=)
c.723G>C (p.Gly241=)
c.434G>C
c.687G>C (p.Gly229=)
c.*3896G>C (n.*3896G>C)
c.407G>C
c.804G>C (p.Gly268=)
c.426G>C (p.Gly142=)
c.429G>C (p.Gly143=)
c.5-27065G>C (n.5-27065G>C)
c.-43-16495G>C (n.-43-16495G>C)
c.-99+34255G>C (n.-99+34255G>C)
n.4249G>C
n.4290G>C
 dbSNP
17g.43091016C>TCA002635BRCA1c.4113G>A (p.Gly1371=)
c.3987G>A (p.Gly1329=)
c.4110G>A (p.Gly1370=)
c.4035G>A (p.Gly1345=)
c.801G>A (p.Gly267=)
c.663G>A (p.Gly221=)
c.3225G>A (p.Gly1075=)
c.3990G>A (p.Gly1330=)
c.3972G>A (p.Gly1324=)
c.681G>A (p.Gly227=)
c.723G>A (p.Gly241=)
c.434G>A
c.687G>A (p.Gly229=)
c.*3896G>A (n.*3896G>A)
c.407G>A
c.804G>A (p.Gly268=)
c.426G>A (p.Gly142=)
c.429G>A (p.Gly143=)
c.5-27065G>A (n.5-27065G>A)
c.-43-16495G>A (n.-43-16495G>A)
c.-99+34255G>A (n.-99+34255G>A)
n.4249G>A
n.4290G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091018delCA002634BRCA1c.4113del (p.Cys1372ValfsTer21)
c.3987del (p.Cys1330ValfsTer21)
c.4110del (p.Cys1371ValfsTer21)
c.4035del (p.Cys1346ValfsTer21)
c.801del (p.Cys268ValfsTer21)
c.663del (p.Cys222ValfsTer21)
c.3225del (p.Cys1076ValfsTer21)
c.3990del (p.Cys1331ValfsTer21)
c.3972del (p.Cys1325ValfsTer21)
c.681del (p.Cys228ValfsTer21)
c.723del (p.Cys242ValfsTer21)
c.434del
c.687del (p.Cys230ValfsTer21)
c.*3896del (n.*3896del)
c.407del
c.804del (p.Cys269ValfsTer21)
c.426del (p.Cys143ValfsTer21)
c.429del (p.Cys144ValfsTer21)
c.5-27065del (n.5-27065del)
c.-43-16495del (n.-43-16495del)
c.-99+34255del (n.-99+34255del)
n.4249del
n.4290del
 ClinVar dbSNP gnomAD v4
17g.43091016_43091017insAGATCA658825028BRCA1c.4112_4113insATCT (p.Cys1372SerfsTer3)
c.3986_3987insATCT (p.Cys1330SerfsTer3)
c.4109_4110insATCT (p.Cys1371SerfsTer3)
c.4034_4035insATCT (p.Cys1346SerfsTer3)
c.800_801insATCT (p.Cys268SerfsTer3)
c.662_663insATCT (p.Cys222SerfsTer3)
c.3224_3225insATCT (p.Cys1076SerfsTer3)
c.3989_3990insATCT (p.Cys1331SerfsTer3)
c.3971_3972insATCT (p.Cys1325SerfsTer3)
c.680_681insATCT (p.Cys228SerfsTer3)
c.722_723insATCT (p.Cys242SerfsTer3)
c.433_434insATCT
c.686_687insATCT (p.Cys230SerfsTer3)
c.*3895_*3896insATCT (n.*3895_*3896insATCT)
c.406_407insATCT
c.803_804insATCT (p.Cys269SerfsTer3)
c.425_426insATCT (p.Cys143SerfsTer3)
c.428_429insATCT (p.Cys144SerfsTer3)
c.5-27066_5-27065insATCT (n.5-27066_5-27065insATCT)
c.-43-16496_-43-16495insATCT (n.-43-16496_-43-16495insATCT)
c.-99+34254_-99+34255insATCT (n.-99+34254_-99+34255insATCT)
n.4248_4249insATCT
n.4289_4290insATCT
 ClinVar dbSNP
17g.43091017C>ACA10593501BRCA1c.4112G>T (p.Gly1371Val)
c.3986G>T (p.Gly1329Val)
c.4109G>T (p.Gly1370Val)
c.4034G>T (p.Gly1345Val)
c.800G>T (p.Gly267Val)
c.662G>T (p.Gly221Val)
c.3224G>T (p.Gly1075Val)
c.3989G>T (p.Gly1330Val)
c.3971G>T (p.Gly1324Val)
c.680G>T (p.Gly227Val)
c.722G>T (p.Gly241Val)
c.433G>T
c.686G>T (p.Gly229Val)
c.*3895G>T (n.*3895G>T)
c.406G>T
c.803G>T (p.Gly268Val)
c.425G>T (p.Gly142Val)
c.428G>T (p.Gly143Val)
c.5-27066G>T (n.5-27066G>T)
c.-43-16496G>T (n.-43-16496G>T)
c.-99+34254G>T (n.-99+34254G>T)
n.4248G>T
n.4289G>T
 dbSNP gnomAD v2
17g.43091017C=CA2260781713BRCA1c.4112G= (p.Gly1371=)
c.3986G= (p.Gly1329=)
c.4109G= (p.Gly1370=)
c.4034G= (p.Gly1345=)
c.800G= (p.Gly267=)
c.662G= (p.Gly221=)
c.3224G= (p.Gly1075=)
c.3989G= (p.Gly1330=)
c.3971G= (p.Gly1324=)
c.680G= (p.Gly227=)
c.722G= (p.Gly241=)
c.433G=
c.686G= (p.Gly229=)
c.*3895G= (n.*3895G=)
c.406G=
c.803G= (p.Gly268=)
c.425G= (p.Gly142=)
c.428G= (p.Gly143=)
c.5-27066G= (n.5-27066G=)
c.-43-16496G= (n.-43-16496G=)
c.-99+34254G= (n.-99+34254G=)
n.4248G=
n.4289G=
17g.43091017C>GCA10593502BRCA1c.4112G>C (p.Gly1371Ala)
c.3986G>C (p.Gly1329Ala)
c.4109G>C (p.Gly1370Ala)
c.4034G>C (p.Gly1345Ala)
c.800G>C (p.Gly267Ala)
c.662G>C (p.Gly221Ala)
c.3224G>C (p.Gly1075Ala)
c.3989G>C (p.Gly1330Ala)
c.3971G>C (p.Gly1324Ala)
c.680G>C (p.Gly227Ala)
c.722G>C (p.Gly241Ala)
c.433G>C
c.686G>C (p.Gly229Ala)
c.*3895G>C (n.*3895G>C)
c.406G>C
c.803G>C (p.Gly268Ala)
c.425G>C (p.Gly142Ala)
c.428G>C (p.Gly143Ala)
c.5-27066G>C (n.5-27066G>C)
c.-43-16496G>C (n.-43-16496G>C)
c.-99+34254G>C (n.-99+34254G>C)
n.4248G>C
n.4289G>C
 ClinVar dbSNP
17g.43091017C>TCA10593503BRCA1c.4112G>A (p.Gly1371Glu)
c.3986G>A (p.Gly1329Glu)
c.4109G>A (p.Gly1370Glu)
c.4034G>A (p.Gly1345Glu)
c.800G>A (p.Gly267Glu)
c.662G>A (p.Gly221Glu)
c.3224G>A (p.Gly1075Glu)
c.3989G>A (p.Gly1330Glu)
c.3971G>A (p.Gly1324Glu)
c.680G>A (p.Gly227Glu)
c.722G>A (p.Gly241Glu)
c.433G>A
c.686G>A (p.Gly229Glu)
c.*3895G>A (n.*3895G>A)
c.406G>A
c.803G>A (p.Gly268Glu)
c.425G>A (p.Gly142Glu)
c.428G>A (p.Gly143Glu)
c.5-27066G>A (n.5-27066G>A)
c.-43-16496G>A (n.-43-16496G>A)
c.-99+34254G>A (n.-99+34254G>A)
n.4248G>A
n.4289G>A
 dbSNP
17g.43091017_43091019delinsCCACA2260781714BRCA1c.4110_4112delinsTGG (p.Ser1370=)
c.3984_3986delinsTGG (p.Ser1328=)
c.4107_4109delinsTGG (p.Ser1369=)
c.4032_4034delinsTGG (p.Ser1344=)
c.798_800delinsTGG (p.Ser266=)
c.660_662delinsTGG (p.Ser220=)
c.3222_3224delinsTGG (p.Ser1074=)
c.3987_3989delinsTGG (p.Ser1329=)
c.3969_3971delinsTGG (p.Ser1323=)
c.678_680delinsTGG (p.Ser226=)
c.720_722delinsTGG (p.Ser240=)
c.431_433delinsTGG
c.684_686delinsTGG (p.Ser228=)
c.*3893_*3895delinsTGG (n.*3893_*3895delinsTGG)
c.404_406delinsTGG
c.801_803delinsTGG (p.Ser267=)
c.423_425delinsTGG (p.Ser141=)
c.426_428delinsTGG (p.Ser142=)
c.5-27068_5-27066delinsTGG (n.5-27068_5-27066delinsTGG)
c.-43-16498_-43-16496delinsTGG (n.-43-16498_-43-16496delinsTGG)
c.-99+34252_-99+34254delinsTGG (n.-99+34252_-99+34254delinsTGG)
n.4246_4248delinsTGG
n.4287_4289delinsTGG
17g.43091017_43091018insAGATCA002632BRCA1c.4111_4112insATCT (p.Gly1371AspfsTer4)
c.3985_3986insATCT (p.Gly1329AspfsTer4)
c.4108_4109insATCT (p.Gly1370AspfsTer4)
c.4033_4034insATCT (p.Gly1345AspfsTer4)
c.799_800insATCT (p.Gly267AspfsTer4)
c.661_662insATCT (p.Gly221AspfsTer4)
c.3223_3224insATCT (p.Gly1075AspfsTer4)
c.3988_3989insATCT (p.Gly1330AspfsTer4)
c.3970_3971insATCT (p.Gly1324AspfsTer4)
c.679_680insATCT (p.Gly227AspfsTer4)
c.721_722insATCT (p.Gly241AspfsTer4)
c.432_433insATCT
c.685_686insATCT (p.Gly229AspfsTer4)
c.*3894_*3895insATCT (n.*3894_*3895insATCT)
c.405_406insATCT
c.802_803insATCT (p.Gly268AspfsTer4)
c.424_425insATCT (p.Gly142AspfsTer4)
c.427_428insATCT (p.Gly143AspfsTer4)
c.5-27067_5-27066insATCT (n.5-27067_5-27066insATCT)
c.-43-16497_-43-16496insATCT (n.-43-16497_-43-16496insATCT)
c.-99+34253_-99+34254insATCT (n.-99+34253_-99+34254insATCT)
n.4247_4248insATCT
n.4288_4289insATCT
 ClinVar dbSNP
17g.43091018C>ACA10593504BRCA1c.4111G>T (p.Gly1371Trp)
c.3985G>T (p.Gly1329Trp)
c.4108G>T (p.Gly1370Trp)
c.4033G>T (p.Gly1345Trp)
c.799G>T (p.Gly267Trp)
c.661G>T (p.Gly221Trp)
c.3223G>T (p.Gly1075Trp)
c.3988G>T (p.Gly1330Trp)
c.3970G>T (p.Gly1324Trp)
c.679G>T (p.Gly227Trp)
c.721G>T (p.Gly241Trp)
c.432G>T
c.685G>T (p.Gly229Trp)
c.*3894G>T (n.*3894G>T)
c.405G>T
c.802G>T (p.Gly268Trp)
c.424G>T (p.Gly142Trp)
c.427G>T (p.Gly143Trp)
c.5-27067G>T (n.5-27067G>T)
c.-43-16497G>T (n.-43-16497G>T)
c.-99+34253G>T (n.-99+34253G>T)
n.4247G>T
n.4288G>T
 dbSNP
17g.43091018C=CA2260781715BRCA1c.4111G= (p.Gly1371=)
c.3985G= (p.Gly1329=)
c.4108G= (p.Gly1370=)
c.4033G= (p.Gly1345=)
c.799G= (p.Gly267=)
c.661G= (p.Gly221=)
c.3223G= (p.Gly1075=)
c.3988G= (p.Gly1330=)
c.3970G= (p.Gly1324=)
c.679G= (p.Gly227=)
c.721G= (p.Gly241=)
c.432G=
c.685G= (p.Gly229=)
c.*3894G= (n.*3894G=)
c.405G=
c.802G= (p.Gly268=)
c.424G= (p.Gly142=)
c.427G= (p.Gly143=)
c.5-27067G= (n.5-27067G=)
c.-43-16497G= (n.-43-16497G=)
c.-99+34253G= (n.-99+34253G=)
n.4247G=
n.4288G=
17g.43091018C>GCA002633BRCA1c.4111G>C (p.Gly1371Arg)
c.3985G>C (p.Gly1329Arg)
c.4108G>C (p.Gly1370Arg)
c.4033G>C (p.Gly1345Arg)
c.799G>C (p.Gly267Arg)
c.661G>C (p.Gly221Arg)
c.3223G>C (p.Gly1075Arg)
c.3988G>C (p.Gly1330Arg)
c.3970G>C (p.Gly1324Arg)
c.679G>C (p.Gly227Arg)
c.721G>C (p.Gly241Arg)
c.432G>C
c.685G>C (p.Gly229Arg)
c.*3894G>C (n.*3894G>C)
c.405G>C
c.802G>C (p.Gly268Arg)
c.424G>C (p.Gly142Arg)
c.427G>C (p.Gly143Arg)
c.5-27067G>C (n.5-27067G>C)
c.-43-16497G>C (n.-43-16497G>C)
c.-99+34253G>C (n.-99+34253G>C)
n.4247G>C
n.4288G>C
 ClinVar dbSNP gnomAD v4
17g.43091018C>TCA059434BRCA1c.4111G>A (p.Gly1371Arg)
c.3985G>A (p.Gly1329Arg)
c.4108G>A (p.Gly1370Arg)
c.4033G>A (p.Gly1345Arg)
c.799G>A (p.Gly267Arg)
c.661G>A (p.Gly221Arg)
c.3223G>A (p.Gly1075Arg)
c.3988G>A (p.Gly1330Arg)
c.3970G>A (p.Gly1324Arg)
c.679G>A (p.Gly227Arg)
c.721G>A (p.Gly241Arg)
c.432G>A
c.685G>A (p.Gly229Arg)
c.*3894G>A (n.*3894G>A)
c.405G>A
c.802G>A (p.Gly268Arg)
c.424G>A (p.Gly142Arg)
c.427G>A (p.Gly143Arg)
c.5-27067G>A (n.5-27067G>A)
c.-43-16497G>A (n.-43-16497G>A)
c.-99+34253G>A (n.-99+34253G>A)
n.4247G>A
n.4288G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43091018_43091019delCA002631BRCA1c.4110_4111del (p.Gly1371ValfsTer2)
c.3984_3985del (p.Gly1329ValfsTer2)
c.4107_4108del (p.Gly1370ValfsTer2)
c.4032_4033del (p.Gly1345ValfsTer2)
c.798_799del (p.Gly267ValfsTer2)
c.660_661del (p.Gly221ValfsTer2)
c.3222_3223del (p.Gly1075ValfsTer2)
c.3987_3988del (p.Gly1330ValfsTer2)
c.3969_3970del (p.Gly1324ValfsTer2)
c.678_679del (p.Gly227ValfsTer2)
c.720_721del (p.Gly241ValfsTer2)
c.431_432del
c.684_685del (p.Gly229ValfsTer2)
c.*3893_*3894del (n.*3893_*3894del)
c.404_405del
c.801_802del (p.Gly268ValfsTer2)
c.423_424del (p.Gly142ValfsTer2)
c.426_427del (p.Gly143ValfsTer2)
c.5-27068_5-27067del (n.5-27068_5-27067del)
c.-43-16498_-43-16497del (n.-43-16498_-43-16497del)
c.-99+34252_-99+34253del (n.-99+34252_-99+34253del)
n.4246_4247del
n.4287_4288del
 ClinVar dbSNP
17g.43091019A=CA2260781716BRCA1c.4110T= (p.Ser1370=)
c.3984T= (p.Ser1328=)
c.4107T= (p.Ser1369=)
c.4032T= (p.Ser1344=)
c.798T= (p.Ser266=)
c.660T= (p.Ser220=)
c.3222T= (p.Ser1074=)
c.3987T= (p.Ser1329=)
c.3969T= (p.Ser1323=)
c.678T= (p.Ser226=)
c.720T= (p.Ser240=)
c.431T=
c.684T= (p.Ser228=)
c.*3893T= (n.*3893T=)
c.404T=
c.801T= (p.Ser267=)
c.423T= (p.Ser141=)
c.426T= (p.Ser142=)
c.5-27068T= (n.5-27068T=)
c.-43-16498T= (n.-43-16498T=)
c.-99+34252T= (n.-99+34252T=)
n.4246T=
n.4287T=
17g.43091019A>CCA500123162BRCA1c.4110T>G (p.Ser1370=)
c.3984T>G (p.Ser1328=)
c.4107T>G (p.Ser1369=)
c.4032T>G (p.Ser1344=)
c.798T>G (p.Ser266=)
c.660T>G (p.Ser220=)
c.3222T>G (p.Ser1074=)
c.3987T>G (p.Ser1329=)
c.3969T>G (p.Ser1323=)
c.678T>G (p.Ser226=)
c.720T>G (p.Ser240=)
c.431T>G
c.684T>G (p.Ser228=)
c.*3893T>G (n.*3893T>G)
c.404T>G
c.801T>G (p.Ser267=)
c.423T>G (p.Ser141=)
c.426T>G (p.Ser142=)
c.5-27068T>G (n.5-27068T>G)
c.-43-16498T>G (n.-43-16498T>G)
c.-99+34252T>G (n.-99+34252T>G)
n.4246T>G
n.4287T>G
17g.43091019A>GCA500123163BRCA1c.4110T>C (p.Ser1370=)
c.3984T>C (p.Ser1328=)
c.4107T>C (p.Ser1369=)
c.4032T>C (p.Ser1344=)
c.798T>C (p.Ser266=)
c.660T>C (p.Ser220=)
c.3222T>C (p.Ser1074=)
c.3987T>C (p.Ser1329=)
c.3969T>C (p.Ser1323=)
c.678T>C (p.Ser226=)
c.720T>C (p.Ser240=)
c.431T>C
c.684T>C (p.Ser228=)
c.*3893T>C (n.*3893T>C)
c.404T>C
c.801T>C (p.Ser267=)
c.423T>C (p.Ser141=)
c.426T>C (p.Ser142=)
c.5-27068T>C (n.5-27068T>C)
c.-43-16498T>C (n.-43-16498T>C)
c.-99+34252T>C (n.-99+34252T>C)
n.4246T>C
n.4287T>C
 ClinVar dbSNP
17g.43091019A>TCA500123165BRCA1c.4110T>A (p.Ser1370=)
c.3984T>A (p.Ser1328=)
c.4107T>A (p.Ser1369=)
c.4032T>A (p.Ser1344=)
c.798T>A (p.Ser266=)
c.660T>A (p.Ser220=)
c.3222T>A (p.Ser1074=)
c.3987T>A (p.Ser1329=)
c.3969T>A (p.Ser1323=)
c.678T>A (p.Ser226=)
c.720T>A (p.Ser240=)
c.431T>A
c.684T>A (p.Ser228=)
c.*3893T>A (n.*3893T>A)
c.404T>A
c.801T>A (p.Ser267=)
c.423T>A (p.Ser141=)
c.426T>A (p.Ser142=)
c.5-27068T>A (n.5-27068T>A)
c.-43-16498T>A (n.-43-16498T>A)
c.-99+34252T>A (n.-99+34252T>A)
n.4246T>A
n.4287T>A
17g.43091019_43091022dupCA327910BRCA1c.4107_4110dup (p.Gly1371IlefsTer4)
c.3981_3984dup (p.Gly1329IlefsTer4)
c.4104_4107dup (p.Gly1370IlefsTer4)
c.4029_4032dup (p.Gly1345IlefsTer4)
c.795_798dup (p.Gly267IlefsTer4)
c.657_660dup (p.Gly221IlefsTer4)
c.3219_3222dup (p.Gly1075IlefsTer4)
c.3984_3987dup (p.Gly1330IlefsTer4)
c.3966_3969dup (p.Gly1324IlefsTer4)
c.675_678dup (p.Gly227IlefsTer4)
c.717_720dup (p.Gly241IlefsTer4)
c.428_431dup
c.681_684dup (p.Gly229IlefsTer4)
c.*3890_*3893dup (n.*3890_*3893dup)
c.401_404dup
c.798_801dup (p.Gly268IlefsTer4)
c.420_423dup (p.Gly142IlefsTer4)
c.423_426dup (p.Gly143IlefsTer4)
c.5-27071_5-27068dup (n.5-27071_5-27068dup)
c.-43-16501_-43-16498dup (n.-43-16501_-43-16498dup)
c.-99+34249_-99+34252dup (n.-99+34249_-99+34252dup)
n.4243_4246dup
n.4284_4287dup
 ClinVar dbSNP
17g.43091019_43091023delinsGATCA2695200258BRCA1c.4106_4110delinsATC (p.Ala1369AspfsTer4)
c.3980_3984delinsATC (p.Ala1327AspfsTer4)
c.4103_4107delinsATC (p.Ala1368AspfsTer4)
c.4028_4032delinsATC (p.Ala1343AspfsTer4)
c.794_798delinsATC (p.Ala265AspfsTer4)
c.656_660delinsATC (p.Ala219AspfsTer4)
c.3218_3222delinsATC (p.Ala1073AspfsTer4)
c.3983_3987delinsATC (p.Ala1328AspfsTer4)
c.3965_3969delinsATC (p.Ala1322AspfsTer4)
c.674_678delinsATC (p.Ala225AspfsTer4)
c.716_720delinsATC (p.Ala239AspfsTer4)
c.427_431delinsATC
c.680_684delinsATC (p.Ala227AspfsTer4)
c.*3889_*3893delinsATC (n.*3889_*3893delinsATC)
c.400_404delinsATC
c.797_801delinsATC (p.Ala266AspfsTer4)
c.419_423delinsATC (p.Ala140AspfsTer4)
c.422_426delinsATC (p.Ala141AspfsTer4)
c.5-27072_5-27068delinsATC (n.5-27072_5-27068delinsATC)
c.-43-16502_-43-16498delinsATC (n.-43-16502_-43-16498delinsATC)
c.-99+34248_-99+34252delinsATC (n.-99+34248_-99+34252delinsATC)
n.4242_4246delinsATC
n.4283_4287delinsATC
 ClinVar
17g.43091020G>ACA10593505BRCA1c.4109C>T (p.Ser1370Phe)
c.3983C>T (p.Ser1328Phe)
c.4106C>T (p.Ser1369Phe)
c.4031C>T (p.Ser1344Phe)
c.797C>T (p.Ser266Phe)
c.659C>T (p.Ser220Phe)
c.3221C>T (p.Ser1074Phe)
c.3986C>T (p.Ser1329Phe)
c.3968C>T (p.Ser1323Phe)
c.677C>T (p.Ser226Phe)
c.719C>T (p.Ser240Phe)
c.430C>T
c.683C>T (p.Ser228Phe)
c.*3892C>T (n.*3892C>T)
c.403C>T
c.800C>T (p.Ser267Phe)
c.422C>T (p.Ser141Phe)
c.425C>T (p.Ser142Phe)
c.5-27069C>T (n.5-27069C>T)
c.-43-16499C>T (n.-43-16499C>T)
c.-99+34251C>T (n.-99+34251C>T)
n.4245C>T
n.4286C>T
 dbSNP
17g.43091020G>CCA10593506BRCA1c.4109C>G (p.Ser1370Cys)
c.3983C>G (p.Ser1328Cys)
c.4106C>G (p.Ser1369Cys)
c.4031C>G (p.Ser1344Cys)
c.797C>G (p.Ser266Cys)
c.659C>G (p.Ser220Cys)
c.3221C>G (p.Ser1074Cys)
c.3986C>G (p.Ser1329Cys)
c.3968C>G (p.Ser1323Cys)
c.677C>G (p.Ser226Cys)
c.719C>G (p.Ser240Cys)
c.430C>G
c.683C>G (p.Ser228Cys)
c.*3892C>G (n.*3892C>G)
c.403C>G
c.800C>G (p.Ser267Cys)
c.422C>G (p.Ser141Cys)
c.425C>G (p.Ser142Cys)
c.5-27069C>G (n.5-27069C>G)
c.-43-16499C>G (n.-43-16499C>G)
c.-99+34251C>G (n.-99+34251C>G)
n.4245C>G
n.4286C>G
 dbSNP gnomAD v4
17g.43091020G=CA2260781717BRCA1c.4109C= (p.Ser1370=)
c.3983C= (p.Ser1328=)
c.4106C= (p.Ser1369=)
c.4031C= (p.Ser1344=)
c.797C= (p.Ser266=)
c.659C= (p.Ser220=)
c.3221C= (p.Ser1074=)
c.3986C= (p.Ser1329=)
c.3968C= (p.Ser1323=)
c.677C= (p.Ser226=)
c.719C= (p.Ser240=)
c.430C=
c.683C= (p.Ser228=)
c.*3892C= (n.*3892C=)
c.403C=
c.800C= (p.Ser267=)
c.422C= (p.Ser141=)
c.425C= (p.Ser142=)
c.5-27069C= (n.5-27069C=)
c.-43-16499C= (n.-43-16499C=)
c.-99+34251C= (n.-99+34251C=)
n.4245C=
n.4286C=
17g.43091020G>TCA10593507BRCA1c.4109C>A (p.Ser1370Tyr)
c.3983C>A (p.Ser1328Tyr)
c.4106C>A (p.Ser1369Tyr)
c.4031C>A (p.Ser1344Tyr)
c.797C>A (p.Ser266Tyr)
c.659C>A (p.Ser220Tyr)
c.3221C>A (p.Ser1074Tyr)
c.3986C>A (p.Ser1329Tyr)
c.3968C>A (p.Ser1323Tyr)
c.677C>A (p.Ser226Tyr)
c.719C>A (p.Ser240Tyr)
c.430C>A
c.683C>A (p.Ser228Tyr)
c.*3892C>A (n.*3892C>A)
c.403C>A
c.800C>A (p.Ser267Tyr)
c.422C>A (p.Ser141Tyr)
c.425C>A (p.Ser142Tyr)
c.5-27069C>A (n.5-27069C>A)
c.-43-16499C>A (n.-43-16499C>A)
c.-99+34251C>A (n.-99+34251C>A)
n.4245C>A
n.4286C>A
 dbSNP
17g.43091021delCA2499224441BRCA1c.4108del (p.Ser1370LeufsTer23)
c.3982del (p.Ser1328LeufsTer23)
c.4105del (p.Ser1369LeufsTer23)
c.4030del (p.Ser1344LeufsTer23)
c.796del (p.Ser266LeufsTer23)
c.658del (p.Ser220LeufsTer23)
c.3220del (p.Ser1074LeufsTer23)
c.3985del (p.Ser1329LeufsTer23)
c.3967del (p.Ser1323LeufsTer23)
c.676del (p.Ser226LeufsTer23)
c.718del (p.Ser240LeufsTer23)
c.429del
c.682del (p.Ser228LeufsTer23)
c.*3891del (n.*3891del)
c.402del
c.799del (p.Ser267LeufsTer23)
c.421del (p.Ser141LeufsTer23)
c.424del (p.Ser142LeufsTer23)
c.5-27070del (n.5-27070del)
c.-43-16500del (n.-43-16500del)
c.-99+34250del (n.-99+34250del)
n.4244del
n.4285del
17g.43091021A=CA2260781718BRCA1c.4108T= (p.Ser1370=)
c.3982T= (p.Ser1328=)
c.4105T= (p.Ser1369=)
c.4030T= (p.Ser1344=)
c.796T= (p.Ser266=)
c.658T= (p.Ser220=)
c.3220T= (p.Ser1074=)
c.3985T= (p.Ser1329=)
c.3967T= (p.Ser1323=)
c.676T= (p.Ser226=)
c.718T= (p.Ser240=)
c.429T=
c.682T= (p.Ser228=)
c.*3891T= (n.*3891T=)
c.402T=
c.799T= (p.Ser267=)
c.421T= (p.Ser141=)
c.424T= (p.Ser142=)
c.5-27070T= (n.5-27070T=)
c.-43-16500T= (n.-43-16500T=)
c.-99+34250T= (n.-99+34250T=)
n.4244T=
n.4285T=
17g.43091021A>CCA10593508BRCA1c.4108T>G (p.Ser1370Ala)
c.3982T>G (p.Ser1328Ala)
c.4105T>G (p.Ser1369Ala)
c.4030T>G (p.Ser1344Ala)
c.796T>G (p.Ser266Ala)
c.658T>G (p.Ser220Ala)
c.3220T>G (p.Ser1074Ala)
c.3985T>G (p.Ser1329Ala)
c.3967T>G (p.Ser1323Ala)
c.676T>G (p.Ser226Ala)
c.718T>G (p.Ser240Ala)
c.429T>G
c.682T>G (p.Ser228Ala)
c.*3891T>G (n.*3891T>G)
c.402T>G
c.799T>G (p.Ser267Ala)
c.421T>G (p.Ser141Ala)
c.424T>G (p.Ser142Ala)
c.5-27070T>G (n.5-27070T>G)
c.-43-16500T>G (n.-43-16500T>G)
c.-99+34250T>G (n.-99+34250T>G)
n.4244T>G
n.4285T>G
17g.43091021A>GCA10593509BRCA1c.4108T>C (p.Ser1370Pro)
c.3982T>C (p.Ser1328Pro)
c.4105T>C (p.Ser1369Pro)
c.4030T>C (p.Ser1344Pro)
c.796T>C (p.Ser266Pro)
c.658T>C (p.Ser220Pro)
c.3220T>C (p.Ser1074Pro)
c.3985T>C (p.Ser1329Pro)
c.3967T>C (p.Ser1323Pro)
c.676T>C (p.Ser226Pro)
c.718T>C (p.Ser240Pro)
c.429T>C
c.682T>C (p.Ser228Pro)
c.*3891T>C (n.*3891T>C)
c.402T>C
c.799T>C (p.Ser267Pro)
c.421T>C (p.Ser141Pro)
c.424T>C (p.Ser142Pro)
c.5-27070T>C (n.5-27070T>C)
c.-43-16500T>C (n.-43-16500T>C)
c.-99+34250T>C (n.-99+34250T>C)
n.4244T>C
n.4285T>C
 ClinVar dbSNP gnomAD v4
17g.43091021A>TCA10593510BRCA1c.4108T>A (p.Ser1370Thr)
c.3982T>A (p.Ser1328Thr)
c.4105T>A (p.Ser1369Thr)
c.4030T>A (p.Ser1344Thr)
c.796T>A (p.Ser266Thr)
c.658T>A (p.Ser220Thr)
c.3220T>A (p.Ser1074Thr)
c.3985T>A (p.Ser1329Thr)
c.3967T>A (p.Ser1323Thr)
c.676T>A (p.Ser226Thr)
c.718T>A (p.Ser240Thr)
c.429T>A
c.682T>A (p.Ser228Thr)
c.*3891T>A (n.*3891T>A)
c.402T>A
c.799T>A (p.Ser267Thr)
c.421T>A (p.Ser141Thr)
c.424T>A (p.Ser142Thr)
c.5-27070T>A (n.5-27070T>A)
c.-43-16500T>A (n.-43-16500T>A)
c.-99+34250T>A (n.-99+34250T>A)
n.4244T>A
n.4285T>A
17g.43091021_43091022insGATACA658825029BRCA1c.4108_4109insATCT (p.Ser1370TyrfsTer5)
c.3982_3983insATCT (p.Ser1328TyrfsTer5)
c.4105_4106insATCT (p.Ser1369TyrfsTer5)
c.4030_4031insATCT (p.Ser1344TyrfsTer5)
c.796_797insATCT (p.Ser266TyrfsTer5)
c.658_659insATCT (p.Ser220TyrfsTer5)
c.3220_3221insATCT (p.Ser1074TyrfsTer5)
c.3985_3986insATCT (p.Ser1329TyrfsTer5)
c.3967_3968insATCT (p.Ser1323TyrfsTer5)
c.676_677insATCT (p.Ser226TyrfsTer5)
c.718_719insATCT (p.Ser240TyrfsTer5)
c.429_430insATCT
c.682_683insATCT (p.Ser228TyrfsTer5)
c.*3891_*3892insATCT (n.*3891_*3892insATCT)
c.402_403insATCT
c.799_800insATCT (p.Ser267TyrfsTer5)
c.421_422insATCT (p.Ser141TyrfsTer5)
c.424_425insATCT (p.Ser142TyrfsTer5)
c.5-27070_5-27069insATCT (n.5-27070_5-27069insATCT)
c.-43-16500_-43-16499insATCT (n.-43-16500_-43-16499insATCT)
c.-99+34250_-99+34251insATCT (n.-99+34250_-99+34251insATCT)
n.4244_4245insATCT
n.4285_4286insATCT
 ClinVar dbSNP
17g.43091021_43091022insAGATCA10589691BRCA1c.4107_4108insATCT (p.Ser1370IlefsTer5)
c.3981_3982insATCT (p.Ser1328IlefsTer5)
c.4104_4105insATCT (p.Ser1369IlefsTer5)
c.4029_4030insATCT (p.Ser1344IlefsTer5)
c.795_796insATCT (p.Ser266IlefsTer5)
c.657_658insATCT (p.Ser220IlefsTer5)
c.3219_3220insATCT (p.Ser1074IlefsTer5)
c.3984_3985insATCT (p.Ser1329IlefsTer5)
c.3966_3967insATCT (p.Ser1323IlefsTer5)
c.675_676insATCT (p.Ser226IlefsTer5)
c.717_718insATCT (p.Ser240IlefsTer5)
c.428_429insATCT
c.681_682insATCT (p.Ser228IlefsTer5)
c.*3890_*3891insATCT (n.*3890_*3891insATCT)
c.401_402insATCT
c.798_799insATCT (p.Ser267IlefsTer5)
c.420_421insATCT (p.Ser141IlefsTer5)
c.423_424insATCT (p.Ser142IlefsTer5)
c.5-27071_5-27070insATCT (n.5-27071_5-27070insATCT)
c.-43-16501_-43-16500insATCT (n.-43-16501_-43-16500insATCT)
c.-99+34249_-99+34250insATCT (n.-99+34249_-99+34250insATCT)
n.4243_4244insATCT
n.4284_4285insATCT
 ClinVar dbSNP
17g.43091022T>ACA500123181BRCA1c.4107A>T (p.Ala1369=)
c.3981A>T (p.Ala1327=)
c.4104A>T (p.Ala1368=)
c.4029A>T (p.Ala1343=)
c.795A>T (p.Ala265=)
c.657A>T (p.Ala219=)
c.3219A>T (p.Ala1073=)
c.3984A>T (p.Ala1328=)
c.3966A>T (p.Ala1322=)
c.675A>T (p.Ala225=)
c.717A>T (p.Ala239=)
c.428A>T
c.681A>T (p.Ala227=)
c.*3890A>T (n.*3890A>T)
c.401A>T
c.798A>T (p.Ala266=)
c.420A>T (p.Ala140=)
c.423A>T (p.Ala141=)
c.5-27071A>T (n.5-27071A>T)
c.-43-16501A>T (n.-43-16501A>T)
c.-99+34249A>T (n.-99+34249A>T)
n.4243A>T
n.4284A>T
 dbSNP
17g.43091022T>CCA500123185BRCA1c.4107A>G (p.Ala1369=)
c.3981A>G (p.Ala1327=)
c.4104A>G (p.Ala1368=)
c.4029A>G (p.Ala1343=)
c.795A>G (p.Ala265=)
c.657A>G (p.Ala219=)
c.3219A>G (p.Ala1073=)
c.3984A>G (p.Ala1328=)
c.3966A>G (p.Ala1322=)
c.675A>G (p.Ala225=)
c.717A>G (p.Ala239=)
c.428A>G
c.681A>G (p.Ala227=)
c.*3890A>G (n.*3890A>G)
c.401A>G
c.798A>G (p.Ala266=)
c.420A>G (p.Ala140=)
c.423A>G (p.Ala141=)
c.5-27071A>G (n.5-27071A>G)
c.-43-16501A>G (n.-43-16501A>G)
c.-99+34249A>G (n.-99+34249A>G)
n.4243A>G
n.4284A>G
 ClinVar dbSNP

Number of alleles fetched