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.43090892A>TCA2733920685BRCA1c.4185+52T>A (n.4185+52T>A)
c.4059+52T>A (n.4059+52T>A)
c.4182+52T>A (n.4182+52T>A)
c.4107+52T>A (n.4107+52T>A)
c.873+52T>A (n.873+52T>A)
c.735+52T>A (n.735+52T>A)
c.3297+52T>A (n.3297+52T>A)
c.4062+52T>A (n.4062+52T>A)
c.4044+52T>A (n.4044+52T>A)
c.753+52T>A (n.753+52T>A)
c.795+52T>A (n.795+52T>A)
c.506+52T>A
c.759+52T>A (n.759+52T>A)
c.*3968+52T>A (n.*3968+52T>A)
c.479+52T>A
c.876+52T>A (n.876+52T>A)
c.498+52T>A (n.498+52T>A)
c.501+52T>A (n.501+52T>A)
c.5-26941T>A (n.5-26941T>A)
c.-43-16371T>A (n.-43-16371T>A)
c.-99+34379T>A (n.-99+34379T>A)
n.4321+52T>A
n.4362+52T>A
 dbSNP
17g.43090893A>GCA2733920687BRCA1c.4185+51T>C (n.4185+51T>C)
c.4059+51T>C (n.4059+51T>C)
c.4182+51T>C (n.4182+51T>C)
c.4107+51T>C (n.4107+51T>C)
c.873+51T>C (n.873+51T>C)
c.735+51T>C (n.735+51T>C)
c.3297+51T>C (n.3297+51T>C)
c.4062+51T>C (n.4062+51T>C)
c.4044+51T>C (n.4044+51T>C)
c.753+51T>C (n.753+51T>C)
c.795+51T>C (n.795+51T>C)
c.506+51T>C
c.759+51T>C (n.759+51T>C)
c.*3968+51T>C (n.*3968+51T>C)
c.479+51T>C
c.876+51T>C (n.876+51T>C)
c.498+51T>C (n.498+51T>C)
c.501+51T>C (n.501+51T>C)
c.5-26942T>C (n.5-26942T>C)
c.-43-16372T>C (n.-43-16372T>C)
c.-99+34378T>C (n.-99+34378T>C)
n.4321+51T>C
n.4362+51T>C
 dbSNP
17g.43090893A>TCA2733920718BRCA1c.4185+51T>A (n.4185+51T>A)
c.4059+51T>A (n.4059+51T>A)
c.4182+51T>A (n.4182+51T>A)
c.4107+51T>A (n.4107+51T>A)
c.873+51T>A (n.873+51T>A)
c.735+51T>A (n.735+51T>A)
c.3297+51T>A (n.3297+51T>A)
c.4062+51T>A (n.4062+51T>A)
c.4044+51T>A (n.4044+51T>A)
c.753+51T>A (n.753+51T>A)
c.795+51T>A (n.795+51T>A)
c.506+51T>A
c.759+51T>A (n.759+51T>A)
c.*3968+51T>A (n.*3968+51T>A)
c.479+51T>A
c.876+51T>A (n.876+51T>A)
c.498+51T>A (n.498+51T>A)
c.501+51T>A (n.501+51T>A)
c.5-26942T>A (n.5-26942T>A)
c.-43-16372T>A (n.-43-16372T>A)
c.-99+34378T>A (n.-99+34378T>A)
n.4321+51T>A
n.4362+51T>A
 dbSNP
17g.43090894T>ACA2733920852BRCA1c.4185+50A>T (n.4185+50A>T)
c.4059+50A>T (n.4059+50A>T)
c.4182+50A>T (n.4182+50A>T)
c.4107+50A>T (n.4107+50A>T)
c.873+50A>T (n.873+50A>T)
c.735+50A>T (n.735+50A>T)
c.3297+50A>T (n.3297+50A>T)
c.4062+50A>T (n.4062+50A>T)
c.4044+50A>T (n.4044+50A>T)
c.753+50A>T (n.753+50A>T)
c.795+50A>T (n.795+50A>T)
c.506+50A>T
c.759+50A>T (n.759+50A>T)
c.*3968+50A>T (n.*3968+50A>T)
c.479+50A>T
c.876+50A>T (n.876+50A>T)
c.498+50A>T (n.498+50A>T)
c.501+50A>T (n.501+50A>T)
c.5-26943A>T (n.5-26943A>T)
c.-43-16373A>T (n.-43-16373A>T)
c.-99+34377A>T (n.-99+34377A>T)
n.4321+50A>T
n.4362+50A>T
 dbSNP
17g.43090894T>GCA2733920854BRCA1c.4185+50A>C (n.4185+50A>C)
c.4059+50A>C (n.4059+50A>C)
c.4182+50A>C (n.4182+50A>C)
c.4107+50A>C (n.4107+50A>C)
c.873+50A>C (n.873+50A>C)
c.735+50A>C (n.735+50A>C)
c.3297+50A>C (n.3297+50A>C)
c.4062+50A>C (n.4062+50A>C)
c.4044+50A>C (n.4044+50A>C)
c.753+50A>C (n.753+50A>C)
c.795+50A>C (n.795+50A>C)
c.506+50A>C
c.759+50A>C (n.759+50A>C)
c.*3968+50A>C (n.*3968+50A>C)
c.479+50A>C
c.876+50A>C (n.876+50A>C)
c.498+50A>C (n.498+50A>C)
c.501+50A>C (n.501+50A>C)
c.5-26943A>C (n.5-26943A>C)
c.-43-16373A>C (n.-43-16373A>C)
c.-99+34377A>C (n.-99+34377A>C)
n.4321+50A>C
n.4362+50A>C
 dbSNP
17g.43090895G>ACA2733920855BRCA1c.4185+49C>T (n.4185+49C>T)
c.4059+49C>T (n.4059+49C>T)
c.4182+49C>T (n.4182+49C>T)
c.4107+49C>T (n.4107+49C>T)
c.873+49C>T (n.873+49C>T)
c.735+49C>T (n.735+49C>T)
c.3297+49C>T (n.3297+49C>T)
c.4062+49C>T (n.4062+49C>T)
c.4044+49C>T (n.4044+49C>T)
c.753+49C>T (n.753+49C>T)
c.795+49C>T (n.795+49C>T)
c.506+49C>T
c.759+49C>T (n.759+49C>T)
c.*3968+49C>T (n.*3968+49C>T)
c.479+49C>T
c.876+49C>T (n.876+49C>T)
c.498+49C>T (n.498+49C>T)
c.501+49C>T (n.501+49C>T)
c.5-26944C>T (n.5-26944C>T)
c.-43-16374C>T (n.-43-16374C>T)
c.-99+34376C>T (n.-99+34376C>T)
n.4321+49C>T
n.4362+49C>T
 dbSNP
17g.43090895G>CCA2638063768BRCA1c.4185+49C>G (n.4185+49C>G)
c.4059+49C>G (n.4059+49C>G)
c.4182+49C>G (n.4182+49C>G)
c.4107+49C>G (n.4107+49C>G)
c.873+49C>G (n.873+49C>G)
c.735+49C>G (n.735+49C>G)
c.3297+49C>G (n.3297+49C>G)
c.4062+49C>G (n.4062+49C>G)
c.4044+49C>G (n.4044+49C>G)
c.753+49C>G (n.753+49C>G)
c.795+49C>G (n.795+49C>G)
c.506+49C>G
c.759+49C>G (n.759+49C>G)
c.*3968+49C>G (n.*3968+49C>G)
c.479+49C>G
c.876+49C>G (n.876+49C>G)
c.498+49C>G (n.498+49C>G)
c.501+49C>G (n.501+49C>G)
c.5-26944C>G (n.5-26944C>G)
c.-43-16374C>G (n.-43-16374C>G)
c.-99+34376C>G (n.-99+34376C>G)
n.4321+49C>G
n.4362+49C>G
 dbSNP gnomAD v4
17g.43090895G>TCA2638063769BRCA1c.4185+49C>A (n.4185+49C>A)
c.4059+49C>A (n.4059+49C>A)
c.4182+49C>A (n.4182+49C>A)
c.4107+49C>A (n.4107+49C>A)
c.873+49C>A (n.873+49C>A)
c.735+49C>A (n.735+49C>A)
c.3297+49C>A (n.3297+49C>A)
c.4062+49C>A (n.4062+49C>A)
c.4044+49C>A (n.4044+49C>A)
c.753+49C>A (n.753+49C>A)
c.795+49C>A (n.795+49C>A)
c.506+49C>A
c.759+49C>A (n.759+49C>A)
c.*3968+49C>A (n.*3968+49C>A)
c.479+49C>A
c.876+49C>A (n.876+49C>A)
c.498+49C>A (n.498+49C>A)
c.501+49C>A (n.501+49C>A)
c.5-26944C>A (n.5-26944C>A)
c.-43-16374C>A (n.-43-16374C>A)
c.-99+34376C>A (n.-99+34376C>A)
n.4321+49C>A
n.4362+49C>A
 dbSNP gnomAD v4
17g.43090896C>ACA2733920869BRCA1c.4185+48G>T (n.4185+48G>T)
c.4059+48G>T (n.4059+48G>T)
c.4182+48G>T (n.4182+48G>T)
c.4107+48G>T (n.4107+48G>T)
c.873+48G>T (n.873+48G>T)
c.735+48G>T (n.735+48G>T)
c.3297+48G>T (n.3297+48G>T)
c.4062+48G>T (n.4062+48G>T)
c.4044+48G>T (n.4044+48G>T)
c.753+48G>T (n.753+48G>T)
c.795+48G>T (n.795+48G>T)
c.506+48G>T
c.759+48G>T (n.759+48G>T)
c.*3968+48G>T (n.*3968+48G>T)
c.479+48G>T
c.876+48G>T (n.876+48G>T)
c.498+48G>T (n.498+48G>T)
c.501+48G>T (n.501+48G>T)
c.5-26945G>T (n.5-26945G>T)
c.-43-16375G>T (n.-43-16375G>T)
c.-99+34375G>T (n.-99+34375G>T)
n.4321+48G>T
n.4362+48G>T
 dbSNP
17g.43090896C>GCA2733920870BRCA1c.4185+48G>C (n.4185+48G>C)
c.4059+48G>C (n.4059+48G>C)
c.4182+48G>C (n.4182+48G>C)
c.4107+48G>C (n.4107+48G>C)
c.873+48G>C (n.873+48G>C)
c.735+48G>C (n.735+48G>C)
c.3297+48G>C (n.3297+48G>C)
c.4062+48G>C (n.4062+48G>C)
c.4044+48G>C (n.4044+48G>C)
c.753+48G>C (n.753+48G>C)
c.795+48G>C (n.795+48G>C)
c.506+48G>C
c.759+48G>C (n.759+48G>C)
c.*3968+48G>C (n.*3968+48G>C)
c.479+48G>C
c.876+48G>C (n.876+48G>C)
c.498+48G>C (n.498+48G>C)
c.501+48G>C (n.501+48G>C)
c.5-26945G>C (n.5-26945G>C)
c.-43-16375G>C (n.-43-16375G>C)
c.-99+34375G>C (n.-99+34375G>C)
n.4321+48G>C
n.4362+48G>C
 dbSNP
17g.43090896C>TCA2638063771BRCA1c.4185+48G>A (n.4185+48G>A)
c.4059+48G>A (n.4059+48G>A)
c.4182+48G>A (n.4182+48G>A)
c.4107+48G>A (n.4107+48G>A)
c.873+48G>A (n.873+48G>A)
c.735+48G>A (n.735+48G>A)
c.3297+48G>A (n.3297+48G>A)
c.4062+48G>A (n.4062+48G>A)
c.4044+48G>A (n.4044+48G>A)
c.753+48G>A (n.753+48G>A)
c.795+48G>A (n.795+48G>A)
c.506+48G>A
c.759+48G>A (n.759+48G>A)
c.*3968+48G>A (n.*3968+48G>A)
c.479+48G>A
c.876+48G>A (n.876+48G>A)
c.498+48G>A (n.498+48G>A)
c.501+48G>A (n.501+48G>A)
c.5-26945G>A (n.5-26945G>A)
c.-43-16375G>A (n.-43-16375G>A)
c.-99+34375G>A (n.-99+34375G>A)
n.4321+48G>A
n.4362+48G>A
 dbSNP gnomAD v4
17g.43090897A=CA2260781591BRCA1c.4185+47T= (n.4185+47T=)
c.4059+47T= (n.4059+47T=)
c.4182+47T= (n.4182+47T=)
c.4107+47T= (n.4107+47T=)
c.873+47T= (n.873+47T=)
c.735+47T= (n.735+47T=)
c.3297+47T= (n.3297+47T=)
c.4062+47T= (n.4062+47T=)
c.4044+47T= (n.4044+47T=)
c.753+47T= (n.753+47T=)
c.795+47T= (n.795+47T=)
c.506+47T=
c.759+47T= (n.759+47T=)
c.*3968+47T= (n.*3968+47T=)
c.479+47T=
c.876+47T= (n.876+47T=)
c.498+47T= (n.498+47T=)
c.501+47T= (n.501+47T=)
c.5-26946T= (n.5-26946T=)
c.-43-16376T= (n.-43-16376T=)
c.-99+34374T= (n.-99+34374T=)
n.4321+47T=
n.4362+47T=
17g.43090897A>GCA772185058BRCA1c.4185+47T>C (n.4185+47T>C)
c.4059+47T>C (n.4059+47T>C)
c.4182+47T>C (n.4182+47T>C)
c.4107+47T>C (n.4107+47T>C)
c.873+47T>C (n.873+47T>C)
c.735+47T>C (n.735+47T>C)
c.3297+47T>C (n.3297+47T>C)
c.4062+47T>C (n.4062+47T>C)
c.4044+47T>C (n.4044+47T>C)
c.753+47T>C (n.753+47T>C)
c.795+47T>C (n.795+47T>C)
c.506+47T>C
c.759+47T>C (n.759+47T>C)
c.*3968+47T>C (n.*3968+47T>C)
c.479+47T>C
c.876+47T>C (n.876+47T>C)
c.498+47T>C (n.498+47T>C)
c.501+47T>C (n.501+47T>C)
c.5-26946T>C (n.5-26946T>C)
c.-43-16376T>C (n.-43-16376T>C)
c.-99+34374T>C (n.-99+34374T>C)
n.4321+47T>C
n.4362+47T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090898A>TCA2733920955BRCA1c.4185+46T>A (n.4185+46T>A)
c.4059+46T>A (n.4059+46T>A)
c.4182+46T>A (n.4182+46T>A)
c.4107+46T>A (n.4107+46T>A)
c.873+46T>A (n.873+46T>A)
c.735+46T>A (n.735+46T>A)
c.3297+46T>A (n.3297+46T>A)
c.4062+46T>A (n.4062+46T>A)
c.4044+46T>A (n.4044+46T>A)
c.753+46T>A (n.753+46T>A)
c.795+46T>A (n.795+46T>A)
c.506+46T>A
c.759+46T>A (n.759+46T>A)
c.*3968+46T>A (n.*3968+46T>A)
c.479+46T>A
c.876+46T>A (n.876+46T>A)
c.498+46T>A (n.498+46T>A)
c.501+46T>A (n.501+46T>A)
c.5-26947T>A (n.5-26947T>A)
c.-43-16377T>A (n.-43-16377T>A)
c.-99+34373T>A (n.-99+34373T>A)
n.4321+46T>A
n.4362+46T>A
 dbSNP
17g.43090899A=CA2260781592BRCA1c.4185+45T= (n.4185+45T=)
c.4059+45T= (n.4059+45T=)
c.4182+45T= (n.4182+45T=)
c.4107+45T= (n.4107+45T=)
c.873+45T= (n.873+45T=)
c.735+45T= (n.735+45T=)
c.3297+45T= (n.3297+45T=)
c.4062+45T= (n.4062+45T=)
c.4044+45T= (n.4044+45T=)
c.753+45T= (n.753+45T=)
c.795+45T= (n.795+45T=)
c.506+45T=
c.759+45T= (n.759+45T=)
c.*3968+45T= (n.*3968+45T=)
c.479+45T=
c.876+45T= (n.876+45T=)
c.498+45T= (n.498+45T=)
c.501+45T= (n.501+45T=)
c.5-26948T= (n.5-26948T=)
c.-43-16378T= (n.-43-16378T=)
c.-99+34372T= (n.-99+34372T=)
n.4321+45T=
n.4362+45T=
17g.43090899A>GCA2260781593BRCA1c.4185+45T>C (n.4185+45T>C)
c.4059+45T>C (n.4059+45T>C)
c.4182+45T>C (n.4182+45T>C)
c.4107+45T>C (n.4107+45T>C)
c.873+45T>C (n.873+45T>C)
c.735+45T>C (n.735+45T>C)
c.3297+45T>C (n.3297+45T>C)
c.4062+45T>C (n.4062+45T>C)
c.4044+45T>C (n.4044+45T>C)
c.753+45T>C (n.753+45T>C)
c.795+45T>C (n.795+45T>C)
c.506+45T>C
c.759+45T>C (n.759+45T>C)
c.*3968+45T>C (n.*3968+45T>C)
c.479+45T>C
c.876+45T>C (n.876+45T>C)
c.498+45T>C (n.498+45T>C)
c.501+45T>C (n.501+45T>C)
c.5-26948T>C (n.5-26948T>C)
c.-43-16378T>C (n.-43-16378T>C)
c.-99+34372T>C (n.-99+34372T>C)
n.4321+45T>C
n.4362+45T>C
 dbSNP
17g.43090899A>TCA2733693487BRCA1c.4185+45T>A (n.4185+45T>A)
c.4059+45T>A (n.4059+45T>A)
c.4182+45T>A (n.4182+45T>A)
c.4107+45T>A (n.4107+45T>A)
c.873+45T>A (n.873+45T>A)
c.735+45T>A (n.735+45T>A)
c.3297+45T>A (n.3297+45T>A)
c.4062+45T>A (n.4062+45T>A)
c.4044+45T>A (n.4044+45T>A)
c.753+45T>A (n.753+45T>A)
c.795+45T>A (n.795+45T>A)
c.506+45T>A
c.759+45T>A (n.759+45T>A)
c.*3968+45T>A (n.*3968+45T>A)
c.479+45T>A
c.876+45T>A (n.876+45T>A)
c.498+45T>A (n.498+45T>A)
c.501+45T>A (n.501+45T>A)
c.5-26948T>A (n.5-26948T>A)
c.-43-16378T>A (n.-43-16378T>A)
c.-99+34372T>A (n.-99+34372T>A)
n.4321+45T>A
n.4362+45T>A
 dbSNP
17g.43090900G>ACA2733920972BRCA1c.4185+44C>T (n.4185+44C>T)
c.4059+44C>T (n.4059+44C>T)
c.4182+44C>T (n.4182+44C>T)
c.4107+44C>T (n.4107+44C>T)
c.873+44C>T (n.873+44C>T)
c.735+44C>T (n.735+44C>T)
c.3297+44C>T (n.3297+44C>T)
c.4062+44C>T (n.4062+44C>T)
c.4044+44C>T (n.4044+44C>T)
c.753+44C>T (n.753+44C>T)
c.795+44C>T (n.795+44C>T)
c.506+44C>T
c.759+44C>T (n.759+44C>T)
c.*3968+44C>T (n.*3968+44C>T)
c.479+44C>T
c.876+44C>T (n.876+44C>T)
c.498+44C>T (n.498+44C>T)
c.501+44C>T (n.501+44C>T)
c.5-26949C>T (n.5-26949C>T)
c.-43-16379C>T (n.-43-16379C>T)
c.-99+34371C>T (n.-99+34371C>T)
n.4321+44C>T
n.4362+44C>T
 dbSNP
17g.43090900G>TCA2638063772BRCA1c.4185+44C>A (n.4185+44C>A)
c.4059+44C>A (n.4059+44C>A)
c.4182+44C>A (n.4182+44C>A)
c.4107+44C>A (n.4107+44C>A)
c.873+44C>A (n.873+44C>A)
c.735+44C>A (n.735+44C>A)
c.3297+44C>A (n.3297+44C>A)
c.4062+44C>A (n.4062+44C>A)
c.4044+44C>A (n.4044+44C>A)
c.753+44C>A (n.753+44C>A)
c.795+44C>A (n.795+44C>A)
c.506+44C>A
c.759+44C>A (n.759+44C>A)
c.*3968+44C>A (n.*3968+44C>A)
c.479+44C>A
c.876+44C>A (n.876+44C>A)
c.498+44C>A (n.498+44C>A)
c.501+44C>A (n.501+44C>A)
c.5-26949C>A (n.5-26949C>A)
c.-43-16379C>A (n.-43-16379C>A)
c.-99+34371C>A (n.-99+34371C>A)
n.4321+44C>A
n.4362+44C>A
 gnomAD v4
17g.43090901G>ACA2733921003BRCA1c.4185+43C>T (n.4185+43C>T)
c.4059+43C>T (n.4059+43C>T)
c.4182+43C>T (n.4182+43C>T)
c.4107+43C>T (n.4107+43C>T)
c.873+43C>T (n.873+43C>T)
c.735+43C>T (n.735+43C>T)
c.3297+43C>T (n.3297+43C>T)
c.4062+43C>T (n.4062+43C>T)
c.4044+43C>T (n.4044+43C>T)
c.753+43C>T (n.753+43C>T)
c.795+43C>T (n.795+43C>T)
c.506+43C>T
c.759+43C>T (n.759+43C>T)
c.*3968+43C>T (n.*3968+43C>T)
c.479+43C>T
c.876+43C>T (n.876+43C>T)
c.498+43C>T (n.498+43C>T)
c.501+43C>T (n.501+43C>T)
c.5-26950C>T (n.5-26950C>T)
c.-43-16380C>T (n.-43-16380C>T)
c.-99+34370C>T (n.-99+34370C>T)
n.4321+43C>T
n.4362+43C>T
 dbSNP
17g.43090901G>CCA2733921034BRCA1c.4185+43C>G (n.4185+43C>G)
c.4059+43C>G (n.4059+43C>G)
c.4182+43C>G (n.4182+43C>G)
c.4107+43C>G (n.4107+43C>G)
c.873+43C>G (n.873+43C>G)
c.735+43C>G (n.735+43C>G)
c.3297+43C>G (n.3297+43C>G)
c.4062+43C>G (n.4062+43C>G)
c.4044+43C>G (n.4044+43C>G)
c.753+43C>G (n.753+43C>G)
c.795+43C>G (n.795+43C>G)
c.506+43C>G
c.759+43C>G (n.759+43C>G)
c.*3968+43C>G (n.*3968+43C>G)
c.479+43C>G
c.876+43C>G (n.876+43C>G)
c.498+43C>G (n.498+43C>G)
c.501+43C>G (n.501+43C>G)
c.5-26950C>G (n.5-26950C>G)
c.-43-16380C>G (n.-43-16380C>G)
c.-99+34370C>G (n.-99+34370C>G)
n.4321+43C>G
n.4362+43C>G
 dbSNP
17g.43090901G>TCA2638063773BRCA1c.4185+43C>A (n.4185+43C>A)
c.4059+43C>A (n.4059+43C>A)
c.4182+43C>A (n.4182+43C>A)
c.4107+43C>A (n.4107+43C>A)
c.873+43C>A (n.873+43C>A)
c.735+43C>A (n.735+43C>A)
c.3297+43C>A (n.3297+43C>A)
c.4062+43C>A (n.4062+43C>A)
c.4044+43C>A (n.4044+43C>A)
c.753+43C>A (n.753+43C>A)
c.795+43C>A (n.795+43C>A)
c.506+43C>A
c.759+43C>A (n.759+43C>A)
c.*3968+43C>A (n.*3968+43C>A)
c.479+43C>A
c.876+43C>A (n.876+43C>A)
c.498+43C>A (n.498+43C>A)
c.501+43C>A (n.501+43C>A)
c.5-26950C>A (n.5-26950C>A)
c.-43-16380C>A (n.-43-16380C>A)
c.-99+34370C>A (n.-99+34370C>A)
n.4321+43C>A
n.4362+43C>A
 dbSNP gnomAD v4
17g.43090902A>GCA2733921057BRCA1c.4185+42T>C (n.4185+42T>C)
c.4059+42T>C (n.4059+42T>C)
c.4182+42T>C (n.4182+42T>C)
c.4107+42T>C (n.4107+42T>C)
c.873+42T>C (n.873+42T>C)
c.735+42T>C (n.735+42T>C)
c.3297+42T>C (n.3297+42T>C)
c.4062+42T>C (n.4062+42T>C)
c.4044+42T>C (n.4044+42T>C)
c.753+42T>C (n.753+42T>C)
c.795+42T>C (n.795+42T>C)
c.506+42T>C
c.759+42T>C (n.759+42T>C)
c.*3968+42T>C (n.*3968+42T>C)
c.479+42T>C
c.876+42T>C (n.876+42T>C)
c.498+42T>C (n.498+42T>C)
c.501+42T>C (n.501+42T>C)
c.5-26951T>C (n.5-26951T>C)
c.-43-16381T>C (n.-43-16381T>C)
c.-99+34369T>C (n.-99+34369T>C)
n.4321+42T>C
n.4362+42T>C
 dbSNP
17g.43090902A>TCA2733921074BRCA1c.4185+42T>A (n.4185+42T>A)
c.4059+42T>A (n.4059+42T>A)
c.4182+42T>A (n.4182+42T>A)
c.4107+42T>A (n.4107+42T>A)
c.873+42T>A (n.873+42T>A)
c.735+42T>A (n.735+42T>A)
c.3297+42T>A (n.3297+42T>A)
c.4062+42T>A (n.4062+42T>A)
c.4044+42T>A (n.4044+42T>A)
c.753+42T>A (n.753+42T>A)
c.795+42T>A (n.795+42T>A)
c.506+42T>A
c.759+42T>A (n.759+42T>A)
c.*3968+42T>A (n.*3968+42T>A)
c.479+42T>A
c.876+42T>A (n.876+42T>A)
c.498+42T>A (n.498+42T>A)
c.501+42T>A (n.501+42T>A)
c.5-26951T>A (n.5-26951T>A)
c.-43-16381T>A (n.-43-16381T>A)
c.-99+34369T>A (n.-99+34369T>A)
n.4321+42T>A
n.4362+42T>A
 dbSNP
17g.43090903C>ACA2733921082BRCA1c.4185+41G>T (n.4185+41G>T)
c.4059+41G>T (n.4059+41G>T)
c.4182+41G>T (n.4182+41G>T)
c.4107+41G>T (n.4107+41G>T)
c.873+41G>T (n.873+41G>T)
c.735+41G>T (n.735+41G>T)
c.3297+41G>T (n.3297+41G>T)
c.4062+41G>T (n.4062+41G>T)
c.4044+41G>T (n.4044+41G>T)
c.753+41G>T (n.753+41G>T)
c.795+41G>T (n.795+41G>T)
c.506+41G>T
c.759+41G>T (n.759+41G>T)
c.*3968+41G>T (n.*3968+41G>T)
c.479+41G>T
c.876+41G>T (n.876+41G>T)
c.498+41G>T (n.498+41G>T)
c.501+41G>T (n.501+41G>T)
c.5-26952G>T (n.5-26952G>T)
c.-43-16382G>T (n.-43-16382G>T)
c.-99+34368G>T (n.-99+34368G>T)
n.4321+41G>T
n.4362+41G>T
 dbSNP
17g.43090903C>GCA2638063774BRCA1c.4185+41G>C (n.4185+41G>C)
c.4059+41G>C (n.4059+41G>C)
c.4182+41G>C (n.4182+41G>C)
c.4107+41G>C (n.4107+41G>C)
c.873+41G>C (n.873+41G>C)
c.735+41G>C (n.735+41G>C)
c.3297+41G>C (n.3297+41G>C)
c.4062+41G>C (n.4062+41G>C)
c.4044+41G>C (n.4044+41G>C)
c.753+41G>C (n.753+41G>C)
c.795+41G>C (n.795+41G>C)
c.506+41G>C
c.759+41G>C (n.759+41G>C)
c.*3968+41G>C (n.*3968+41G>C)
c.479+41G>C
c.876+41G>C (n.876+41G>C)
c.498+41G>C (n.498+41G>C)
c.501+41G>C (n.501+41G>C)
c.5-26952G>C (n.5-26952G>C)
c.-43-16382G>C (n.-43-16382G>C)
c.-99+34368G>C (n.-99+34368G>C)
n.4321+41G>C
n.4362+41G>C
 dbSNP gnomAD v4
17g.43090903C>TCA2733921084BRCA1c.4185+41G>A (n.4185+41G>A)
c.4059+41G>A (n.4059+41G>A)
c.4182+41G>A (n.4182+41G>A)
c.4107+41G>A (n.4107+41G>A)
c.873+41G>A (n.873+41G>A)
c.735+41G>A (n.735+41G>A)
c.3297+41G>A (n.3297+41G>A)
c.4062+41G>A (n.4062+41G>A)
c.4044+41G>A (n.4044+41G>A)
c.753+41G>A (n.753+41G>A)
c.795+41G>A (n.795+41G>A)
c.506+41G>A
c.759+41G>A (n.759+41G>A)
c.*3968+41G>A (n.*3968+41G>A)
c.479+41G>A
c.876+41G>A (n.876+41G>A)
c.498+41G>A (n.498+41G>A)
c.501+41G>A (n.501+41G>A)
c.5-26952G>A (n.5-26952G>A)
c.-43-16382G>A (n.-43-16382G>A)
c.-99+34368G>A (n.-99+34368G>A)
n.4321+41G>A
n.4362+41G>A
 dbSNP
17g.43090904A=CA2260781594BRCA1c.4185+40T= (n.4185+40T=)
c.4059+40T= (n.4059+40T=)
c.4182+40T= (n.4182+40T=)
c.4107+40T= (n.4107+40T=)
c.873+40T= (n.873+40T=)
c.735+40T= (n.735+40T=)
c.3297+40T= (n.3297+40T=)
c.4062+40T= (n.4062+40T=)
c.4044+40T= (n.4044+40T=)
c.753+40T= (n.753+40T=)
c.795+40T= (n.795+40T=)
c.506+40T=
c.759+40T= (n.759+40T=)
c.*3968+40T= (n.*3968+40T=)
c.479+40T=
c.876+40T= (n.876+40T=)
c.498+40T= (n.498+40T=)
c.501+40T= (n.501+40T=)
c.5-26953T= (n.5-26953T=)
c.-43-16383T= (n.-43-16383T=)
c.-99+34367T= (n.-99+34367T=)
n.4321+40T=
n.4362+40T=
17g.43090904A>CCA059586BRCA1c.4185+40T>G (n.4185+40T>G)
c.4059+40T>G (n.4059+40T>G)
c.4182+40T>G (n.4182+40T>G)
c.4107+40T>G (n.4107+40T>G)
c.873+40T>G (n.873+40T>G)
c.735+40T>G (n.735+40T>G)
c.3297+40T>G (n.3297+40T>G)
c.4062+40T>G (n.4062+40T>G)
c.4044+40T>G (n.4044+40T>G)
c.753+40T>G (n.753+40T>G)
c.795+40T>G (n.795+40T>G)
c.506+40T>G
c.759+40T>G (n.759+40T>G)
c.*3968+40T>G (n.*3968+40T>G)
c.479+40T>G
c.876+40T>G (n.876+40T>G)
c.498+40T>G (n.498+40T>G)
c.501+40T>G (n.501+40T>G)
c.5-26953T>G (n.5-26953T>G)
c.-43-16383T>G (n.-43-16383T>G)
c.-99+34367T>G (n.-99+34367T>G)
n.4321+40T>G
n.4362+40T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090905C>ACA2809538962BRCA1c.4185+39G>T (n.4185+39G>T)
c.4059+39G>T (n.4059+39G>T)
c.4182+39G>T (n.4182+39G>T)
c.4107+39G>T (n.4107+39G>T)
c.873+39G>T (n.873+39G>T)
c.735+39G>T (n.735+39G>T)
c.3297+39G>T (n.3297+39G>T)
c.4062+39G>T (n.4062+39G>T)
c.4044+39G>T (n.4044+39G>T)
c.753+39G>T (n.753+39G>T)
c.795+39G>T (n.795+39G>T)
c.506+39G>T
c.759+39G>T (n.759+39G>T)
c.*3968+39G>T (n.*3968+39G>T)
c.479+39G>T
c.876+39G>T (n.876+39G>T)
c.498+39G>T (n.498+39G>T)
c.501+39G>T (n.501+39G>T)
c.5-26954G>T (n.5-26954G>T)
c.-43-16384G>T (n.-43-16384G>T)
c.-99+34366G>T (n.-99+34366G>T)
n.4321+39G>T
n.4362+39G>T
17g.43090905C=CA2260781597BRCA1c.4185+39G= (n.4185+39G=)
c.4059+39G= (n.4059+39G=)
c.4182+39G= (n.4182+39G=)
c.4107+39G= (n.4107+39G=)
c.873+39G= (n.873+39G=)
c.735+39G= (n.735+39G=)
c.3297+39G= (n.3297+39G=)
c.4062+39G= (n.4062+39G=)
c.4044+39G= (n.4044+39G=)
c.753+39G= (n.753+39G=)
c.795+39G= (n.795+39G=)
c.506+39G=
c.759+39G= (n.759+39G=)
c.*3968+39G= (n.*3968+39G=)
c.479+39G=
c.876+39G= (n.876+39G=)
c.498+39G= (n.498+39G=)
c.501+39G= (n.501+39G=)
c.5-26954G= (n.5-26954G=)
c.-43-16384G= (n.-43-16384G=)
c.-99+34366G= (n.-99+34366G=)
n.4321+39G=
n.4362+39G=
17g.43090905C>GCA2638063778BRCA1c.4185+39G>C (n.4185+39G>C)
c.4059+39G>C (n.4059+39G>C)
c.4182+39G>C (n.4182+39G>C)
c.4107+39G>C (n.4107+39G>C)
c.873+39G>C (n.873+39G>C)
c.735+39G>C (n.735+39G>C)
c.3297+39G>C (n.3297+39G>C)
c.4062+39G>C (n.4062+39G>C)
c.4044+39G>C (n.4044+39G>C)
c.753+39G>C (n.753+39G>C)
c.795+39G>C (n.795+39G>C)
c.506+39G>C
c.759+39G>C (n.759+39G>C)
c.*3968+39G>C (n.*3968+39G>C)
c.479+39G>C
c.876+39G>C (n.876+39G>C)
c.498+39G>C (n.498+39G>C)
c.501+39G>C (n.501+39G>C)
c.5-26954G>C (n.5-26954G>C)
c.-43-16384G>C (n.-43-16384G>C)
c.-99+34366G>C (n.-99+34366G>C)
n.4321+39G>C
n.4362+39G>C
 gnomAD v4
17g.43090905C>TCA626075625BRCA1c.4185+39G>A (n.4185+39G>A)
c.4059+39G>A (n.4059+39G>A)
c.4182+39G>A (n.4182+39G>A)
c.4107+39G>A (n.4107+39G>A)
c.873+39G>A (n.873+39G>A)
c.735+39G>A (n.735+39G>A)
c.3297+39G>A (n.3297+39G>A)
c.4062+39G>A (n.4062+39G>A)
c.4044+39G>A (n.4044+39G>A)
c.753+39G>A (n.753+39G>A)
c.795+39G>A (n.795+39G>A)
c.506+39G>A
c.759+39G>A (n.759+39G>A)
c.*3968+39G>A (n.*3968+39G>A)
c.479+39G>A
c.876+39G>A (n.876+39G>A)
c.498+39G>A (n.498+39G>A)
c.501+39G>A (n.501+39G>A)
c.5-26954G>A (n.5-26954G>A)
c.-43-16384G>A (n.-43-16384G>A)
c.-99+34366G>A (n.-99+34366G>A)
n.4321+39G>A
n.4362+39G>A
 gnomAD v2 gnomAD v4
17g.43090905_43090907delinsCCACA2260781595BRCA1c.4185+37_4185+39delinsTGG (n.4185+37_4185+39delinsTGG)
c.4059+37_4059+39delinsTGG (n.4059+37_4059+39delinsTGG)
c.4182+37_4182+39delinsTGG (n.4182+37_4182+39delinsTGG)
c.4107+37_4107+39delinsTGG (n.4107+37_4107+39delinsTGG)
c.873+37_873+39delinsTGG (n.873+37_873+39delinsTGG)
c.735+37_735+39delinsTGG (n.735+37_735+39delinsTGG)
c.3297+37_3297+39delinsTGG (n.3297+37_3297+39delinsTGG)
c.4062+37_4062+39delinsTGG (n.4062+37_4062+39delinsTGG)
c.4044+37_4044+39delinsTGG (n.4044+37_4044+39delinsTGG)
c.753+37_753+39delinsTGG (n.753+37_753+39delinsTGG)
c.795+37_795+39delinsTGG (n.795+37_795+39delinsTGG)
c.506+37_506+39delinsTGG
c.759+37_759+39delinsTGG (n.759+37_759+39delinsTGG)
c.*3968+37_*3968+39delinsTGG (n.*3968+37_*3968+39delinsTGG)
c.479+37_479+39delinsTGG
c.876+37_876+39delinsTGG (n.876+37_876+39delinsTGG)
c.498+37_498+39delinsTGG (n.498+37_498+39delinsTGG)
c.501+37_501+39delinsTGG (n.501+37_501+39delinsTGG)
c.5-26956_5-26954delinsTGG (n.5-26956_5-26954delinsTGG)
c.-43-16386_-43-16384delinsTGG (n.-43-16386_-43-16384delinsTGG)
c.-99+34364_-99+34366delinsTGG (n.-99+34364_-99+34366delinsTGG)
n.4321+37_4321+39delinsTGG
n.4362+37_4362+39delinsTGG
17g.43090905_43090923delinsCCACACACACGCATGTGCACA2260781596BRCA1c.4185+21_4185+39delinsTGCACATGCGTGTGTGTGG (n.4185+21_4185+39delinsTGCACATGCGTGTGTGTGG)
c.4059+21_4059+39delinsTGCACATGCGTGTGTGTGG (n.4059+21_4059+39delinsTGCACATGCGTGTGTGTGG)
c.4182+21_4182+39delinsTGCACATGCGTGTGTGTGG (n.4182+21_4182+39delinsTGCACATGCGTGTGTGTGG)
c.4107+21_4107+39delinsTGCACATGCGTGTGTGTGG (n.4107+21_4107+39delinsTGCACATGCGTGTGTGTGG)
c.873+21_873+39delinsTGCACATGCGTGTGTGTGG (n.873+21_873+39delinsTGCACATGCGTGTGTGTGG)
c.735+21_735+39delinsTGCACATGCGTGTGTGTGG (n.735+21_735+39delinsTGCACATGCGTGTGTGTGG)
c.3297+21_3297+39delinsTGCACATGCGTGTGTGTGG (n.3297+21_3297+39delinsTGCACATGCGTGTGTGTGG)
c.4062+21_4062+39delinsTGCACATGCGTGTGTGTGG (n.4062+21_4062+39delinsTGCACATGCGTGTGTGTGG)
c.4044+21_4044+39delinsTGCACATGCGTGTGTGTGG (n.4044+21_4044+39delinsTGCACATGCGTGTGTGTGG)
c.753+21_753+39delinsTGCACATGCGTGTGTGTGG (n.753+21_753+39delinsTGCACATGCGTGTGTGTGG)
c.795+21_795+39delinsTGCACATGCGTGTGTGTGG (n.795+21_795+39delinsTGCACATGCGTGTGTGTGG)
c.506+21_506+39delinsTGCACATGCGTGTGTGTGG
c.759+21_759+39delinsTGCACATGCGTGTGTGTGG (n.759+21_759+39delinsTGCACATGCGTGTGTGTGG)
c.*3968+21_*3968+39delinsTGCACATGCGTGTGTGTGG (n.*3968+21_*3968+39delinsTGCACATGCGTGTGTGTGG)
c.479+21_479+39delinsTGCACATGCGTGTGTGTGG
c.876+21_876+39delinsTGCACATGCGTGTGTGTGG (n.876+21_876+39delinsTGCACATGCGTGTGTGTGG)
c.498+21_498+39delinsTGCACATGCGTGTGTGTGG (n.498+21_498+39delinsTGCACATGCGTGTGTGTGG)
c.501+21_501+39delinsTGCACATGCGTGTGTGTGG (n.501+21_501+39delinsTGCACATGCGTGTGTGTGG)
c.5-26972_5-26954delinsTGCACATGCGTGTGTGTGG (n.5-26972_5-26954delinsTGCACATGCGTGTGTGTGG)
c.-43-16402_-43-16384delinsTGCACATGCGTGTGTGTGG (n.-43-16402_-43-16384delinsTGCACATGCGTGTGTGTGG)
c.-99+34348_-99+34366delinsTGCACATGCGTGTGTGTGG (n.-99+34348_-99+34366delinsTGCACATGCGTGTGTGTGG)
n.4321+21_4321+39delinsTGCACATGCGTGTGTGTGG
n.4362+21_4362+39delinsTGCACATGCGTGTGTGTGG
17g.43090905_43090925delinsCCACACACACGCATGTGCACACA2260781598BRCA1c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG (n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG)
c.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTGG (n.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTGG)
c.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTGG (n.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTGG)
c.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG (n.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG)
c.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG (n.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG)
c.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG (n.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG)
c.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTGG (n.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTGG)
c.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTGG (n.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTGG)
c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG (n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG)
c.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG (n.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG)
c.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG (n.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG)
c.506+19_506+39delinsTGTGCACATGCGTGTGTGTGG
c.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG (n.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG)
c.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTGTGG (n.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTGTGG)
c.479+19_479+39delinsTGTGCACATGCGTGTGTGTGG
c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG (n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG)
c.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG (n.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG)
c.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG (n.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG)
c.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTGG (n.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTGG)
c.-43-16404_-43-16384delinsTGTGCACATGCGTGTGTGTGG (n.-43-16404_-43-16384delinsTGTGCACATGCGTGTGTGTGG)
c.-99+34346_-99+34366delinsTGTGCACATGCGTGTGTGTGG (n.-99+34346_-99+34366delinsTGTGCACATGCGTGTGTGTGG)
n.4321+19_4321+39delinsTGTGCACATGCGTGTGTGTGG
n.4362+19_4362+39delinsTGTGCACATGCGTGTGTGTGG
17g.43090906C>GCA2638063783BRCA1c.4185+38G>C (n.4185+38G>C)
c.4059+38G>C (n.4059+38G>C)
c.4182+38G>C (n.4182+38G>C)
c.4107+38G>C (n.4107+38G>C)
c.873+38G>C (n.873+38G>C)
c.735+38G>C (n.735+38G>C)
c.3297+38G>C (n.3297+38G>C)
c.4062+38G>C (n.4062+38G>C)
c.4044+38G>C (n.4044+38G>C)
c.753+38G>C (n.753+38G>C)
c.795+38G>C (n.795+38G>C)
c.506+38G>C
c.759+38G>C (n.759+38G>C)
c.*3968+38G>C (n.*3968+38G>C)
c.479+38G>C
c.876+38G>C (n.876+38G>C)
c.498+38G>C (n.498+38G>C)
c.501+38G>C (n.501+38G>C)
c.5-26955G>C (n.5-26955G>C)
c.-43-16385G>C (n.-43-16385G>C)
c.-99+34365G>C (n.-99+34365G>C)
n.4321+38G>C
n.4362+38G>C
 gnomAD v4
17g.43090913_43090914dupCA626075626BRCA1c.4185+37_4185+38dup (n.4185+37_4185+38dup)
c.4059+37_4059+38dup (n.4059+37_4059+38dup)
c.4182+37_4182+38dup (n.4182+37_4182+38dup)
c.4107+37_4107+38dup (n.4107+37_4107+38dup)
c.873+37_873+38dup (n.873+37_873+38dup)
c.735+37_735+38dup (n.735+37_735+38dup)
c.3297+37_3297+38dup (n.3297+37_3297+38dup)
c.4062+37_4062+38dup (n.4062+37_4062+38dup)
c.4044+37_4044+38dup (n.4044+37_4044+38dup)
c.753+37_753+38dup (n.753+37_753+38dup)
c.795+37_795+38dup (n.795+37_795+38dup)
c.506+37_506+38dup
c.759+37_759+38dup (n.759+37_759+38dup)
c.*3968+37_*3968+38dup (n.*3968+37_*3968+38dup)
c.479+37_479+38dup
c.876+37_876+38dup (n.876+37_876+38dup)
c.498+37_498+38dup (n.498+37_498+38dup)
c.501+37_501+38dup (n.501+37_501+38dup)
c.5-26956_5-26955dup (n.5-26956_5-26955dup)
c.-43-16386_-43-16385dup (n.-43-16386_-43-16385dup)
c.-99+34364_-99+34365dup (n.-99+34364_-99+34365dup)
n.4321+37_4321+38dup
n.4362+37_4362+38dup
 gnomAD v2
17g.43090913_43090914delCA8589946BRCA1c.4185+37_4185+38del (n.4185+37_4185+38del)
c.4059+37_4059+38del (n.4059+37_4059+38del)
c.4182+37_4182+38del (n.4182+37_4182+38del)
c.4107+37_4107+38del (n.4107+37_4107+38del)
c.873+37_873+38del (n.873+37_873+38del)
c.735+37_735+38del (n.735+37_735+38del)
c.3297+37_3297+38del (n.3297+37_3297+38del)
c.4062+37_4062+38del (n.4062+37_4062+38del)
c.4044+37_4044+38del (n.4044+37_4044+38del)
c.753+37_753+38del (n.753+37_753+38del)
c.795+37_795+38del (n.795+37_795+38del)
c.506+37_506+38del
c.759+37_759+38del (n.759+37_759+38del)
c.*3968+37_*3968+38del (n.*3968+37_*3968+38del)
c.479+37_479+38del
c.876+37_876+38del (n.876+37_876+38del)
c.498+37_498+38del (n.498+37_498+38del)
c.501+37_501+38del (n.501+37_501+38del)
c.5-26956_5-26955del (n.5-26956_5-26955del)
c.-43-16386_-43-16385del (n.-43-16386_-43-16385del)
c.-99+34364_-99+34365del (n.-99+34364_-99+34365del)
n.4321+37_4321+38del
n.4362+37_4362+38del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090915_43090930dupCA772185070BRCA1c.4185+23_4185+38dup (n.4185+23_4185+38dup)
c.4059+23_4059+38dup (n.4059+23_4059+38dup)
c.4182+23_4182+38dup (n.4182+23_4182+38dup)
c.4107+23_4107+38dup (n.4107+23_4107+38dup)
c.873+23_873+38dup (n.873+23_873+38dup)
c.735+23_735+38dup (n.735+23_735+38dup)
c.3297+23_3297+38dup (n.3297+23_3297+38dup)
c.4062+23_4062+38dup (n.4062+23_4062+38dup)
c.4044+23_4044+38dup (n.4044+23_4044+38dup)
c.753+23_753+38dup (n.753+23_753+38dup)
c.795+23_795+38dup (n.795+23_795+38dup)
c.506+23_506+38dup
c.759+23_759+38dup (n.759+23_759+38dup)
c.*3968+23_*3968+38dup (n.*3968+23_*3968+38dup)
c.479+23_479+38dup
c.876+23_876+38dup (n.876+23_876+38dup)
c.498+23_498+38dup (n.498+23_498+38dup)
c.501+23_501+38dup (n.501+23_501+38dup)
c.5-26970_5-26955dup (n.5-26970_5-26955dup)
c.-43-16400_-43-16385dup (n.-43-16400_-43-16385dup)
c.-99+34350_-99+34365dup (n.-99+34350_-99+34365dup)
n.4321+23_4321+38dup
n.4362+23_4362+38dup
 dbSNP gnomAD v3 gnomAD v4
17g.43090915_43090932delCA059554BRCA1c.4185+21_4185+38del (n.4185+21_4185+38del)
c.4059+21_4059+38del (n.4059+21_4059+38del)
c.4182+21_4182+38del (n.4182+21_4182+38del)
c.4107+21_4107+38del (n.4107+21_4107+38del)
c.873+21_873+38del (n.873+21_873+38del)
c.735+21_735+38del (n.735+21_735+38del)
c.3297+21_3297+38del (n.3297+21_3297+38del)
c.4062+21_4062+38del (n.4062+21_4062+38del)
c.4044+21_4044+38del (n.4044+21_4044+38del)
c.753+21_753+38del (n.753+21_753+38del)
c.795+21_795+38del (n.795+21_795+38del)
c.506+21_506+38del
c.759+21_759+38del (n.759+21_759+38del)
c.*3968+21_*3968+38del (n.*3968+21_*3968+38del)
c.479+21_479+38del
c.876+21_876+38del (n.876+21_876+38del)
c.498+21_498+38del (n.498+21_498+38del)
c.501+21_501+38del (n.501+21_501+38del)
c.5-26972_5-26955del (n.5-26972_5-26955del)
c.-43-16402_-43-16385del (n.-43-16402_-43-16385del)
c.-99+34348_-99+34365del (n.-99+34348_-99+34365del)
n.4321+21_4321+38del
n.4362+21_4362+38del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090917_43090936dupCA2638063785BRCA1c.4185+19_4185+38dup (n.4185+19_4185+38dup)
c.4059+19_4059+38dup (n.4059+19_4059+38dup)
c.4182+19_4182+38dup (n.4182+19_4182+38dup)
c.4107+19_4107+38dup (n.4107+19_4107+38dup)
c.873+19_873+38dup (n.873+19_873+38dup)
c.735+19_735+38dup (n.735+19_735+38dup)
c.3297+19_3297+38dup (n.3297+19_3297+38dup)
c.4062+19_4062+38dup (n.4062+19_4062+38dup)
c.4044+19_4044+38dup (n.4044+19_4044+38dup)
c.753+19_753+38dup (n.753+19_753+38dup)
c.795+19_795+38dup (n.795+19_795+38dup)
c.506+19_506+38dup
c.759+19_759+38dup (n.759+19_759+38dup)
c.*3968+19_*3968+38dup (n.*3968+19_*3968+38dup)
c.479+19_479+38dup
c.876+19_876+38dup (n.876+19_876+38dup)
c.498+19_498+38dup (n.498+19_498+38dup)
c.501+19_501+38dup (n.501+19_501+38dup)
c.5-26974_5-26955dup (n.5-26974_5-26955dup)
c.-43-16404_-43-16385dup (n.-43-16404_-43-16385dup)
c.-99+34346_-99+34365dup (n.-99+34346_-99+34365dup)
n.4321+19_4321+38dup
n.4362+19_4362+38dup
 gnomAD v4
17g.43090917_43090936delCA913203405BRCA1c.4185+19_4185+38del (n.4185+19_4185+38del)
c.4059+19_4059+38del (n.4059+19_4059+38del)
c.4182+19_4182+38del (n.4182+19_4182+38del)
c.4107+19_4107+38del (n.4107+19_4107+38del)
c.873+19_873+38del (n.873+19_873+38del)
c.735+19_735+38del (n.735+19_735+38del)
c.3297+19_3297+38del (n.3297+19_3297+38del)
c.4062+19_4062+38del (n.4062+19_4062+38del)
c.4044+19_4044+38del (n.4044+19_4044+38del)
c.753+19_753+38del (n.753+19_753+38del)
c.795+19_795+38del (n.795+19_795+38del)
c.506+19_506+38del
c.759+19_759+38del (n.759+19_759+38del)
c.*3968+19_*3968+38del (n.*3968+19_*3968+38del)
c.479+19_479+38del
c.876+19_876+38del (n.876+19_876+38del)
c.498+19_498+38del (n.498+19_498+38del)
c.501+19_501+38del (n.501+19_501+38del)
c.5-26974_5-26955del (n.5-26974_5-26955del)
c.-43-16404_-43-16385del (n.-43-16404_-43-16385del)
c.-99+34346_-99+34365del (n.-99+34346_-99+34365del)
n.4321+19_4321+38del
n.4362+19_4362+38del
 ClinVar dbSNP gnomAD v4
17g.43090907A>CCA2576282501BRCA1c.4185+37T>G (n.4185+37T>G)
c.4059+37T>G (n.4059+37T>G)
c.4182+37T>G (n.4182+37T>G)
c.4107+37T>G (n.4107+37T>G)
c.873+37T>G (n.873+37T>G)
c.735+37T>G (n.735+37T>G)
c.3297+37T>G (n.3297+37T>G)
c.4062+37T>G (n.4062+37T>G)
c.4044+37T>G (n.4044+37T>G)
c.753+37T>G (n.753+37T>G)
c.795+37T>G (n.795+37T>G)
c.506+37T>G
c.759+37T>G (n.759+37T>G)
c.*3968+37T>G (n.*3968+37T>G)
c.479+37T>G
c.876+37T>G (n.876+37T>G)
c.498+37T>G (n.498+37T>G)
c.501+37T>G (n.501+37T>G)
c.5-26956T>G (n.5-26956T>G)
c.-43-16386T>G (n.-43-16386T>G)
c.-99+34364T>G (n.-99+34364T>G)
n.4321+37T>G
n.4362+37T>G
 dbSNP
17g.43090907A>GCA2733921220BRCA1c.4185+37T>C (n.4185+37T>C)
c.4059+37T>C (n.4059+37T>C)
c.4182+37T>C (n.4182+37T>C)
c.4107+37T>C (n.4107+37T>C)
c.873+37T>C (n.873+37T>C)
c.735+37T>C (n.735+37T>C)
c.3297+37T>C (n.3297+37T>C)
c.4062+37T>C (n.4062+37T>C)
c.4044+37T>C (n.4044+37T>C)
c.753+37T>C (n.753+37T>C)
c.795+37T>C (n.795+37T>C)
c.506+37T>C
c.759+37T>C (n.759+37T>C)
c.*3968+37T>C (n.*3968+37T>C)
c.479+37T>C
c.876+37T>C (n.876+37T>C)
c.498+37T>C (n.498+37T>C)
c.501+37T>C (n.501+37T>C)
c.5-26956T>C (n.5-26956T>C)
c.-43-16386T>C (n.-43-16386T>C)
c.-99+34364T>C (n.-99+34364T>C)
n.4321+37T>C
n.4362+37T>C
 dbSNP
17g.43090907A>TCA2733921261BRCA1c.4185+37T>A (n.4185+37T>A)
c.4059+37T>A (n.4059+37T>A)
c.4182+37T>A (n.4182+37T>A)
c.4107+37T>A (n.4107+37T>A)
c.873+37T>A (n.873+37T>A)
c.735+37T>A (n.735+37T>A)
c.3297+37T>A (n.3297+37T>A)
c.4062+37T>A (n.4062+37T>A)
c.4044+37T>A (n.4044+37T>A)
c.753+37T>A (n.753+37T>A)
c.795+37T>A (n.795+37T>A)
c.506+37T>A
c.759+37T>A (n.759+37T>A)
c.*3968+37T>A (n.*3968+37T>A)
c.479+37T>A
c.876+37T>A (n.876+37T>A)
c.498+37T>A (n.498+37T>A)
c.501+37T>A (n.501+37T>A)
c.5-26956T>A (n.5-26956T>A)
c.-43-16386T>A (n.-43-16386T>A)
c.-99+34364T>A (n.-99+34364T>A)
n.4321+37T>A
n.4362+37T>A
 dbSNP
17g.43090908C>GCA2733921311BRCA1c.4185+36G>C (n.4185+36G>C)
c.4059+36G>C (n.4059+36G>C)
c.4182+36G>C (n.4182+36G>C)
c.4107+36G>C (n.4107+36G>C)
c.873+36G>C (n.873+36G>C)
c.735+36G>C (n.735+36G>C)
c.3297+36G>C (n.3297+36G>C)
c.4062+36G>C (n.4062+36G>C)
c.4044+36G>C (n.4044+36G>C)
c.753+36G>C (n.753+36G>C)
c.795+36G>C (n.795+36G>C)
c.506+36G>C
c.759+36G>C (n.759+36G>C)
c.*3968+36G>C (n.*3968+36G>C)
c.479+36G>C
c.876+36G>C (n.876+36G>C)
c.498+36G>C (n.498+36G>C)
c.501+36G>C (n.501+36G>C)
c.5-26957G>C (n.5-26957G>C)
c.-43-16387G>C (n.-43-16387G>C)
c.-99+34363G>C (n.-99+34363G>C)
n.4321+36G>C
n.4362+36G>C
 dbSNP
17g.43090908C>TCA2733921350BRCA1c.4185+36G>A (n.4185+36G>A)
c.4059+36G>A (n.4059+36G>A)
c.4182+36G>A (n.4182+36G>A)
c.4107+36G>A (n.4107+36G>A)
c.873+36G>A (n.873+36G>A)
c.735+36G>A (n.735+36G>A)
c.3297+36G>A (n.3297+36G>A)
c.4062+36G>A (n.4062+36G>A)
c.4044+36G>A (n.4044+36G>A)
c.753+36G>A (n.753+36G>A)
c.795+36G>A (n.795+36G>A)
c.506+36G>A
c.759+36G>A (n.759+36G>A)
c.*3968+36G>A (n.*3968+36G>A)
c.479+36G>A
c.876+36G>A (n.876+36G>A)
c.498+36G>A (n.498+36G>A)
c.501+36G>A (n.501+36G>A)
c.5-26957G>A (n.5-26957G>A)
c.-43-16387G>A (n.-43-16387G>A)
c.-99+34363G>A (n.-99+34363G>A)
n.4321+36G>A
n.4362+36G>A
 dbSNP
17g.43090909A>GCA2576282502BRCA1c.4185+35T>C (n.4185+35T>C)
c.4059+35T>C (n.4059+35T>C)
c.4182+35T>C (n.4182+35T>C)
c.4107+35T>C (n.4107+35T>C)
c.873+35T>C (n.873+35T>C)
c.735+35T>C (n.735+35T>C)
c.3297+35T>C (n.3297+35T>C)
c.4062+35T>C (n.4062+35T>C)
c.4044+35T>C (n.4044+35T>C)
c.753+35T>C (n.753+35T>C)
c.795+35T>C (n.795+35T>C)
c.506+35T>C
c.759+35T>C (n.759+35T>C)
c.*3968+35T>C (n.*3968+35T>C)
c.479+35T>C
c.876+35T>C (n.876+35T>C)
c.498+35T>C (n.498+35T>C)
c.501+35T>C (n.501+35T>C)
c.5-26958T>C (n.5-26958T>C)
c.-43-16388T>C (n.-43-16388T>C)
c.-99+34362T>C (n.-99+34362T>C)
n.4321+35T>C
n.4362+35T>C
 gnomAD v4
17g.43090910C>ACA2733655723BRCA1c.4185+34G>T (n.4185+34G>T)
c.4059+34G>T (n.4059+34G>T)
c.4182+34G>T (n.4182+34G>T)
c.4107+34G>T (n.4107+34G>T)
c.873+34G>T (n.873+34G>T)
c.735+34G>T (n.735+34G>T)
c.3297+34G>T (n.3297+34G>T)
c.4062+34G>T (n.4062+34G>T)
c.4044+34G>T (n.4044+34G>T)
c.753+34G>T (n.753+34G>T)
c.795+34G>T (n.795+34G>T)
c.506+34G>T
c.759+34G>T (n.759+34G>T)
c.*3968+34G>T (n.*3968+34G>T)
c.479+34G>T
c.876+34G>T (n.876+34G>T)
c.498+34G>T (n.498+34G>T)
c.501+34G>T (n.501+34G>T)
c.5-26959G>T (n.5-26959G>T)
c.-43-16389G>T (n.-43-16389G>T)
c.-99+34361G>T (n.-99+34361G>T)
n.4321+34G>T
n.4362+34G>T
 dbSNP
17g.43090910C=CA2260781599BRCA1c.4185+34G= (n.4185+34G=)
c.4059+34G= (n.4059+34G=)
c.4182+34G= (n.4182+34G=)
c.4107+34G= (n.4107+34G=)
c.873+34G= (n.873+34G=)
c.735+34G= (n.735+34G=)
c.3297+34G= (n.3297+34G=)
c.4062+34G= (n.4062+34G=)
c.4044+34G= (n.4044+34G=)
c.753+34G= (n.753+34G=)
c.795+34G= (n.795+34G=)
c.506+34G=
c.759+34G= (n.759+34G=)
c.*3968+34G= (n.*3968+34G=)
c.479+34G=
c.876+34G= (n.876+34G=)
c.498+34G= (n.498+34G=)
c.501+34G= (n.501+34G=)
c.5-26959G= (n.5-26959G=)
c.-43-16389G= (n.-43-16389G=)
c.-99+34361G= (n.-99+34361G=)
n.4321+34G=
n.4362+34G=
17g.43090910C>GCA2638063791BRCA1c.4185+34G>C (n.4185+34G>C)
c.4059+34G>C (n.4059+34G>C)
c.4182+34G>C (n.4182+34G>C)
c.4107+34G>C (n.4107+34G>C)
c.873+34G>C (n.873+34G>C)
c.735+34G>C (n.735+34G>C)
c.3297+34G>C (n.3297+34G>C)
c.4062+34G>C (n.4062+34G>C)
c.4044+34G>C (n.4044+34G>C)
c.753+34G>C (n.753+34G>C)
c.795+34G>C (n.795+34G>C)
c.506+34G>C
c.759+34G>C (n.759+34G>C)
c.*3968+34G>C (n.*3968+34G>C)
c.479+34G>C
c.876+34G>C (n.876+34G>C)
c.498+34G>C (n.498+34G>C)
c.501+34G>C (n.501+34G>C)
c.5-26959G>C (n.5-26959G>C)
c.-43-16389G>C (n.-43-16389G>C)
c.-99+34361G>C (n.-99+34361G>C)
n.4321+34G>C
n.4362+34G>C
 dbSNP gnomAD v4
17g.43090910C>TCA290810814BRCA1c.4185+34G>A (n.4185+34G>A)
c.4059+34G>A (n.4059+34G>A)
c.4182+34G>A (n.4182+34G>A)
c.4107+34G>A (n.4107+34G>A)
c.873+34G>A (n.873+34G>A)
c.735+34G>A (n.735+34G>A)
c.3297+34G>A (n.3297+34G>A)
c.4062+34G>A (n.4062+34G>A)
c.4044+34G>A (n.4044+34G>A)
c.753+34G>A (n.753+34G>A)
c.795+34G>A (n.795+34G>A)
c.506+34G>A
c.759+34G>A (n.759+34G>A)
c.*3968+34G>A (n.*3968+34G>A)
c.479+34G>A
c.876+34G>A (n.876+34G>A)
c.498+34G>A (n.498+34G>A)
c.501+34G>A (n.501+34G>A)
c.5-26959G>A (n.5-26959G>A)
c.-43-16389G>A (n.-43-16389G>A)
c.-99+34361G>A (n.-99+34361G>A)
n.4321+34G>A
n.4362+34G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090912C>ACA2733661270BRCA1c.4185+32G>T (n.4185+32G>T)
c.4059+32G>T (n.4059+32G>T)
c.4182+32G>T (n.4182+32G>T)
c.4107+32G>T (n.4107+32G>T)
c.873+32G>T (n.873+32G>T)
c.735+32G>T (n.735+32G>T)
c.3297+32G>T (n.3297+32G>T)
c.4062+32G>T (n.4062+32G>T)
c.4044+32G>T (n.4044+32G>T)
c.753+32G>T (n.753+32G>T)
c.795+32G>T (n.795+32G>T)
c.506+32G>T
c.759+32G>T (n.759+32G>T)
c.*3968+32G>T (n.*3968+32G>T)
c.479+32G>T
c.876+32G>T (n.876+32G>T)
c.498+32G>T (n.498+32G>T)
c.501+32G>T (n.501+32G>T)
c.5-26961G>T (n.5-26961G>T)
c.-43-16391G>T (n.-43-16391G>T)
c.-99+34359G>T (n.-99+34359G>T)
n.4321+32G>T
n.4362+32G>T
 dbSNP
17g.43090912C=CA2260781600BRCA1c.4185+32G= (n.4185+32G=)
c.4059+32G= (n.4059+32G=)
c.4182+32G= (n.4182+32G=)
c.4107+32G= (n.4107+32G=)
c.873+32G= (n.873+32G=)
c.735+32G= (n.735+32G=)
c.3297+32G= (n.3297+32G=)
c.4062+32G= (n.4062+32G=)
c.4044+32G= (n.4044+32G=)
c.753+32G= (n.753+32G=)
c.795+32G= (n.795+32G=)
c.506+32G=
c.759+32G= (n.759+32G=)
c.*3968+32G= (n.*3968+32G=)
c.479+32G=
c.876+32G= (n.876+32G=)
c.498+32G= (n.498+32G=)
c.501+32G= (n.501+32G=)
c.5-26961G= (n.5-26961G=)
c.-43-16391G= (n.-43-16391G=)
c.-99+34359G= (n.-99+34359G=)
n.4321+32G=
n.4362+32G=
17g.43090912C>GCA626075628BRCA1c.4185+32G>C (n.4185+32G>C)
c.4059+32G>C (n.4059+32G>C)
c.4182+32G>C (n.4182+32G>C)
c.4107+32G>C (n.4107+32G>C)
c.873+32G>C (n.873+32G>C)
c.735+32G>C (n.735+32G>C)
c.3297+32G>C (n.3297+32G>C)
c.4062+32G>C (n.4062+32G>C)
c.4044+32G>C (n.4044+32G>C)
c.753+32G>C (n.753+32G>C)
c.795+32G>C (n.795+32G>C)
c.506+32G>C
c.759+32G>C (n.759+32G>C)
c.*3968+32G>C (n.*3968+32G>C)
c.479+32G>C
c.876+32G>C (n.876+32G>C)
c.498+32G>C (n.498+32G>C)
c.501+32G>C (n.501+32G>C)
c.5-26961G>C (n.5-26961G>C)
c.-43-16391G>C (n.-43-16391G>C)
c.-99+34359G>C (n.-99+34359G>C)
n.4321+32G>C
n.4362+32G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090912C>TCA2260781601BRCA1c.4185+32G>A (n.4185+32G>A)
c.4059+32G>A (n.4059+32G>A)
c.4182+32G>A (n.4182+32G>A)
c.4107+32G>A (n.4107+32G>A)
c.873+32G>A (n.873+32G>A)
c.735+32G>A (n.735+32G>A)
c.3297+32G>A (n.3297+32G>A)
c.4062+32G>A (n.4062+32G>A)
c.4044+32G>A (n.4044+32G>A)
c.753+32G>A (n.753+32G>A)
c.795+32G>A (n.795+32G>A)
c.506+32G>A
c.759+32G>A (n.759+32G>A)
c.*3968+32G>A (n.*3968+32G>A)
c.479+32G>A
c.876+32G>A (n.876+32G>A)
c.498+32G>A (n.498+32G>A)
c.501+32G>A (n.501+32G>A)
c.5-26961G>A (n.5-26961G>A)
c.-43-16391G>A (n.-43-16391G>A)
c.-99+34359G>A (n.-99+34359G>A)
n.4321+32G>A
n.4362+32G>A
 dbSNP gnomAD v4
17g.43090914C=CA2260781602BRCA1c.4185+30G= (n.4185+30G=)
c.4059+30G= (n.4059+30G=)
c.4182+30G= (n.4182+30G=)
c.4107+30G= (n.4107+30G=)
c.873+30G= (n.873+30G=)
c.735+30G= (n.735+30G=)
c.3297+30G= (n.3297+30G=)
c.4062+30G= (n.4062+30G=)
c.4044+30G= (n.4044+30G=)
c.753+30G= (n.753+30G=)
c.795+30G= (n.795+30G=)
c.506+30G=
c.759+30G= (n.759+30G=)
c.*3968+30G= (n.*3968+30G=)
c.479+30G=
c.876+30G= (n.876+30G=)
c.498+30G= (n.498+30G=)
c.501+30G= (n.501+30G=)
c.5-26963G= (n.5-26963G=)
c.-43-16393G= (n.-43-16393G=)
c.-99+34357G= (n.-99+34357G=)
n.4321+30G=
n.4362+30G=
17g.43090914C>GCA2733641852BRCA1c.4185+30G>C (n.4185+30G>C)
c.4059+30G>C (n.4059+30G>C)
c.4182+30G>C (n.4182+30G>C)
c.4107+30G>C (n.4107+30G>C)
c.873+30G>C (n.873+30G>C)
c.735+30G>C (n.735+30G>C)
c.3297+30G>C (n.3297+30G>C)
c.4062+30G>C (n.4062+30G>C)
c.4044+30G>C (n.4044+30G>C)
c.753+30G>C (n.753+30G>C)
c.795+30G>C (n.795+30G>C)
c.506+30G>C
c.759+30G>C (n.759+30G>C)
c.*3968+30G>C (n.*3968+30G>C)
c.479+30G>C
c.876+30G>C (n.876+30G>C)
c.498+30G>C (n.498+30G>C)
c.501+30G>C (n.501+30G>C)
c.5-26963G>C (n.5-26963G>C)
c.-43-16393G>C (n.-43-16393G>C)
c.-99+34357G>C (n.-99+34357G>C)
n.4321+30G>C
n.4362+30G>C
 dbSNP
17g.43090914C>TCA002689BRCA1c.4185+30G>A (n.4185+30G>A)
c.4059+30G>A (n.4059+30G>A)
c.4182+30G>A (n.4182+30G>A)
c.4107+30G>A (n.4107+30G>A)
c.873+30G>A (n.873+30G>A)
c.735+30G>A (n.735+30G>A)
c.3297+30G>A (n.3297+30G>A)
c.4062+30G>A (n.4062+30G>A)
c.4044+30G>A (n.4044+30G>A)
c.753+30G>A (n.753+30G>A)
c.795+30G>A (n.795+30G>A)
c.506+30G>A
c.759+30G>A (n.759+30G>A)
c.*3968+30G>A (n.*3968+30G>A)
c.479+30G>A
c.876+30G>A (n.876+30G>A)
c.498+30G>A (n.498+30G>A)
c.501+30G>A (n.501+30G>A)
c.5-26963G>A (n.5-26963G>A)
c.-43-16393G>A (n.-43-16393G>A)
c.-99+34357G>A (n.-99+34357G>A)
n.4321+30G>A
n.4362+30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090915_43090916delCA2638063793BRCA1c.4185+29_4185+30del (n.4185+29_4185+30del)
c.4059+29_4059+30del (n.4059+29_4059+30del)
c.4182+29_4182+30del (n.4182+29_4182+30del)
c.4107+29_4107+30del (n.4107+29_4107+30del)
c.873+29_873+30del (n.873+29_873+30del)
c.735+29_735+30del (n.735+29_735+30del)
c.3297+29_3297+30del (n.3297+29_3297+30del)
c.4062+29_4062+30del (n.4062+29_4062+30del)
c.4044+29_4044+30del (n.4044+29_4044+30del)
c.753+29_753+30del (n.753+29_753+30del)
c.795+29_795+30del (n.795+29_795+30del)
c.506+29_506+30del
c.759+29_759+30del (n.759+29_759+30del)
c.*3968+29_*3968+30del (n.*3968+29_*3968+30del)
c.479+29_479+30del
c.876+29_876+30del (n.876+29_876+30del)
c.498+29_498+30del (n.498+29_498+30del)
c.501+29_501+30del (n.501+29_501+30del)
c.5-26964_5-26963del (n.5-26964_5-26963del)
c.-43-16394_-43-16393del (n.-43-16394_-43-16393del)
c.-99+34356_-99+34357del (n.-99+34356_-99+34357del)
n.4321+29_4321+30del
n.4362+29_4362+30del
 gnomAD v4
17g.43090915G>ACA002687BRCA1c.4185+29C>T (n.4185+29C>T)
c.4059+29C>T (n.4059+29C>T)
c.4182+29C>T (n.4182+29C>T)
c.4107+29C>T (n.4107+29C>T)
c.873+29C>T (n.873+29C>T)
c.735+29C>T (n.735+29C>T)
c.3297+29C>T (n.3297+29C>T)
c.4062+29C>T (n.4062+29C>T)
c.4044+29C>T (n.4044+29C>T)
c.753+29C>T (n.753+29C>T)
c.795+29C>T (n.795+29C>T)
c.506+29C>T
c.759+29C>T (n.759+29C>T)
c.*3968+29C>T (n.*3968+29C>T)
c.479+29C>T
c.876+29C>T (n.876+29C>T)
c.498+29C>T (n.498+29C>T)
c.501+29C>T (n.501+29C>T)
c.5-26964C>T (n.5-26964C>T)
c.-43-16394C>T (n.-43-16394C>T)
c.-99+34356C>T (n.-99+34356C>T)
n.4321+29C>T
n.4362+29C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090915G>CCA983884056BRCA1c.4185+29C>G (n.4185+29C>G)
c.4059+29C>G (n.4059+29C>G)
c.4182+29C>G (n.4182+29C>G)
c.4107+29C>G (n.4107+29C>G)
c.873+29C>G (n.873+29C>G)
c.735+29C>G (n.735+29C>G)
c.3297+29C>G (n.3297+29C>G)
c.4062+29C>G (n.4062+29C>G)
c.4044+29C>G (n.4044+29C>G)
c.753+29C>G (n.753+29C>G)
c.795+29C>G (n.795+29C>G)
c.506+29C>G
c.759+29C>G (n.759+29C>G)
c.*3968+29C>G (n.*3968+29C>G)
c.479+29C>G
c.876+29C>G (n.876+29C>G)
c.498+29C>G (n.498+29C>G)
c.501+29C>G (n.501+29C>G)
c.5-26964C>G (n.5-26964C>G)
c.-43-16394C>G (n.-43-16394C>G)
c.-99+34356C>G (n.-99+34356C>G)
n.4321+29C>G
n.4362+29C>G
 dbSNP gnomAD v3 gnomAD v4
17g.43090915G=CA2260781603BRCA1c.4185+29C= (n.4185+29C=)
c.4059+29C= (n.4059+29C=)
c.4182+29C= (n.4182+29C=)
c.4107+29C= (n.4107+29C=)
c.873+29C= (n.873+29C=)
c.735+29C= (n.735+29C=)
c.3297+29C= (n.3297+29C=)
c.4062+29C= (n.4062+29C=)
c.4044+29C= (n.4044+29C=)
c.753+29C= (n.753+29C=)
c.795+29C= (n.795+29C=)
c.506+29C=
c.759+29C= (n.759+29C=)
c.*3968+29C= (n.*3968+29C=)
c.479+29C=
c.876+29C= (n.876+29C=)
c.498+29C= (n.498+29C=)
c.501+29C= (n.501+29C=)
c.5-26964C= (n.5-26964C=)
c.-43-16394C= (n.-43-16394C=)
c.-99+34356C= (n.-99+34356C=)
n.4321+29C=
n.4362+29C=
17g.43090915G>TCA2638063800BRCA1c.4185+29C>A (n.4185+29C>A)
c.4059+29C>A (n.4059+29C>A)
c.4182+29C>A (n.4182+29C>A)
c.4107+29C>A (n.4107+29C>A)
c.873+29C>A (n.873+29C>A)
c.735+29C>A (n.735+29C>A)
c.3297+29C>A (n.3297+29C>A)
c.4062+29C>A (n.4062+29C>A)
c.4044+29C>A (n.4044+29C>A)
c.753+29C>A (n.753+29C>A)
c.795+29C>A (n.795+29C>A)
c.506+29C>A
c.759+29C>A (n.759+29C>A)
c.*3968+29C>A (n.*3968+29C>A)
c.479+29C>A
c.876+29C>A (n.876+29C>A)
c.498+29C>A (n.498+29C>A)
c.501+29C>A (n.501+29C>A)
c.5-26964C>A (n.5-26964C>A)
c.-43-16394C>A (n.-43-16394C>A)
c.-99+34356C>A (n.-99+34356C>A)
n.4321+29C>A
n.4362+29C>A
 dbSNP gnomAD v4
17g.43090916C>ACA2733921436BRCA1c.4185+28G>T (n.4185+28G>T)
c.4059+28G>T (n.4059+28G>T)
c.4182+28G>T (n.4182+28G>T)
c.4107+28G>T (n.4107+28G>T)
c.873+28G>T (n.873+28G>T)
c.735+28G>T (n.735+28G>T)
c.3297+28G>T (n.3297+28G>T)
c.4062+28G>T (n.4062+28G>T)
c.4044+28G>T (n.4044+28G>T)
c.753+28G>T (n.753+28G>T)
c.795+28G>T (n.795+28G>T)
c.506+28G>T
c.759+28G>T (n.759+28G>T)
c.*3968+28G>T (n.*3968+28G>T)
c.479+28G>T
c.876+28G>T (n.876+28G>T)
c.498+28G>T (n.498+28G>T)
c.501+28G>T (n.501+28G>T)
c.5-26965G>T (n.5-26965G>T)
c.-43-16395G>T (n.-43-16395G>T)
c.-99+34355G>T (n.-99+34355G>T)
n.4321+28G>T
n.4362+28G>T
 dbSNP
17g.43090916C>GCA2733921433BRCA1c.4185+28G>C (n.4185+28G>C)
c.4059+28G>C (n.4059+28G>C)
c.4182+28G>C (n.4182+28G>C)
c.4107+28G>C (n.4107+28G>C)
c.873+28G>C (n.873+28G>C)
c.735+28G>C (n.735+28G>C)
c.3297+28G>C (n.3297+28G>C)
c.4062+28G>C (n.4062+28G>C)
c.4044+28G>C (n.4044+28G>C)
c.753+28G>C (n.753+28G>C)
c.795+28G>C (n.795+28G>C)
c.506+28G>C
c.759+28G>C (n.759+28G>C)
c.*3968+28G>C (n.*3968+28G>C)
c.479+28G>C
c.876+28G>C (n.876+28G>C)
c.498+28G>C (n.498+28G>C)
c.501+28G>C (n.501+28G>C)
c.5-26965G>C (n.5-26965G>C)
c.-43-16395G>C (n.-43-16395G>C)
c.-99+34355G>C (n.-99+34355G>C)
n.4321+28G>C
n.4362+28G>C
 dbSNP
17g.43090916C>TCA2733921354BRCA1c.4185+28G>A (n.4185+28G>A)
c.4059+28G>A (n.4059+28G>A)
c.4182+28G>A (n.4182+28G>A)
c.4107+28G>A (n.4107+28G>A)
c.873+28G>A (n.873+28G>A)
c.735+28G>A (n.735+28G>A)
c.3297+28G>A (n.3297+28G>A)
c.4062+28G>A (n.4062+28G>A)
c.4044+28G>A (n.4044+28G>A)
c.753+28G>A (n.753+28G>A)
c.795+28G>A (n.795+28G>A)
c.506+28G>A
c.759+28G>A (n.759+28G>A)
c.*3968+28G>A (n.*3968+28G>A)
c.479+28G>A
c.876+28G>A (n.876+28G>A)
c.498+28G>A (n.498+28G>A)
c.501+28G>A (n.501+28G>A)
c.5-26965G>A (n.5-26965G>A)
c.-43-16395G>A (n.-43-16395G>A)
c.-99+34355G>A (n.-99+34355G>A)
n.4321+28G>A
n.4362+28G>A
 dbSNP
17g.43090917A>GCA2733921455BRCA1c.4185+27T>C (n.4185+27T>C)
c.4059+27T>C (n.4059+27T>C)
c.4182+27T>C (n.4182+27T>C)
c.4107+27T>C (n.4107+27T>C)
c.873+27T>C (n.873+27T>C)
c.735+27T>C (n.735+27T>C)
c.3297+27T>C (n.3297+27T>C)
c.4062+27T>C (n.4062+27T>C)
c.4044+27T>C (n.4044+27T>C)
c.753+27T>C (n.753+27T>C)
c.795+27T>C (n.795+27T>C)
c.506+27T>C
c.759+27T>C (n.759+27T>C)
c.*3968+27T>C (n.*3968+27T>C)
c.479+27T>C
c.876+27T>C (n.876+27T>C)
c.498+27T>C (n.498+27T>C)
c.501+27T>C (n.501+27T>C)
c.5-26966T>C (n.5-26966T>C)
c.-43-16396T>C (n.-43-16396T>C)
c.-99+34354T>C (n.-99+34354T>C)
n.4321+27T>C
n.4362+27T>C
 dbSNP
17g.43090917A>TCA2733921536BRCA1c.4185+27T>A (n.4185+27T>A)
c.4059+27T>A (n.4059+27T>A)
c.4182+27T>A (n.4182+27T>A)
c.4107+27T>A (n.4107+27T>A)
c.873+27T>A (n.873+27T>A)
c.735+27T>A (n.735+27T>A)
c.3297+27T>A (n.3297+27T>A)
c.4062+27T>A (n.4062+27T>A)
c.4044+27T>A (n.4044+27T>A)
c.753+27T>A (n.753+27T>A)
c.795+27T>A (n.795+27T>A)
c.506+27T>A
c.759+27T>A (n.759+27T>A)
c.*3968+27T>A (n.*3968+27T>A)
c.479+27T>A
c.876+27T>A (n.876+27T>A)
c.498+27T>A (n.498+27T>A)
c.501+27T>A (n.501+27T>A)
c.5-26966T>A (n.5-26966T>A)
c.-43-16396T>A (n.-43-16396T>A)
c.-99+34354T>A (n.-99+34354T>A)
n.4321+27T>A
n.4362+27T>A
 dbSNP
17g.43090918T>ACA290810839BRCA1c.4185+26A>T (n.4185+26A>T)
c.4059+26A>T (n.4059+26A>T)
c.4182+26A>T (n.4182+26A>T)
c.4107+26A>T (n.4107+26A>T)
c.873+26A>T (n.873+26A>T)
c.735+26A>T (n.735+26A>T)
c.3297+26A>T (n.3297+26A>T)
c.4062+26A>T (n.4062+26A>T)
c.4044+26A>T (n.4044+26A>T)
c.753+26A>T (n.753+26A>T)
c.795+26A>T (n.795+26A>T)
c.506+26A>T
c.759+26A>T (n.759+26A>T)
c.*3968+26A>T (n.*3968+26A>T)
c.479+26A>T
c.876+26A>T (n.876+26A>T)
c.498+26A>T (n.498+26A>T)
c.501+26A>T (n.501+26A>T)
c.5-26967A>T (n.5-26967A>T)
c.-43-16397A>T (n.-43-16397A>T)
c.-99+34353A>T (n.-99+34353A>T)
n.4321+26A>T
n.4362+26A>T
 dbSNP
17g.43090918T>CCA2576282506BRCA1c.4185+26A>G (n.4185+26A>G)
c.4059+26A>G (n.4059+26A>G)
c.4182+26A>G (n.4182+26A>G)
c.4107+26A>G (n.4107+26A>G)
c.873+26A>G (n.873+26A>G)
c.735+26A>G (n.735+26A>G)
c.3297+26A>G (n.3297+26A>G)
c.4062+26A>G (n.4062+26A>G)
c.4044+26A>G (n.4044+26A>G)
c.753+26A>G (n.753+26A>G)
c.795+26A>G (n.795+26A>G)
c.506+26A>G
c.759+26A>G (n.759+26A>G)
c.*3968+26A>G (n.*3968+26A>G)
c.479+26A>G
c.876+26A>G (n.876+26A>G)
c.498+26A>G (n.498+26A>G)
c.501+26A>G (n.501+26A>G)
c.5-26967A>G (n.5-26967A>G)
c.-43-16397A>G (n.-43-16397A>G)
c.-99+34353A>G (n.-99+34353A>G)
n.4321+26A>G
n.4362+26A>G
 dbSNP
17g.43090918T>GCA059577BRCA1c.4185+26A>C (n.4185+26A>C)
c.4059+26A>C (n.4059+26A>C)
c.4182+26A>C (n.4182+26A>C)
c.4107+26A>C (n.4107+26A>C)
c.873+26A>C (n.873+26A>C)
c.735+26A>C (n.735+26A>C)
c.3297+26A>C (n.3297+26A>C)
c.4062+26A>C (n.4062+26A>C)
c.4044+26A>C (n.4044+26A>C)
c.753+26A>C (n.753+26A>C)
c.795+26A>C (n.795+26A>C)
c.506+26A>C
c.759+26A>C (n.759+26A>C)
c.*3968+26A>C (n.*3968+26A>C)
c.479+26A>C
c.876+26A>C (n.876+26A>C)
c.498+26A>C (n.498+26A>C)
c.501+26A>C (n.501+26A>C)
c.5-26967A>C (n.5-26967A>C)
c.-43-16397A>C (n.-43-16397A>C)
c.-99+34353A>C (n.-99+34353A>C)
n.4321+26A>C
n.4362+26A>C
 dbSNP ExAC gnomAD v4
17g.43090918T=CA2260781604BRCA1c.4185+26A= (n.4185+26A=)
c.4059+26A= (n.4059+26A=)
c.4182+26A= (n.4182+26A=)
c.4107+26A= (n.4107+26A=)
c.873+26A= (n.873+26A=)
c.735+26A= (n.735+26A=)
c.3297+26A= (n.3297+26A=)
c.4062+26A= (n.4062+26A=)
c.4044+26A= (n.4044+26A=)
c.753+26A= (n.753+26A=)
c.795+26A= (n.795+26A=)
c.506+26A=
c.759+26A= (n.759+26A=)
c.*3968+26A= (n.*3968+26A=)
c.479+26A=
c.876+26A= (n.876+26A=)
c.498+26A= (n.498+26A=)
c.501+26A= (n.501+26A=)
c.5-26967A= (n.5-26967A=)
c.-43-16397A= (n.-43-16397A=)
c.-99+34353A= (n.-99+34353A=)
n.4321+26A=
n.4362+26A=
17g.43090919G>ACA2576282507BRCA1c.4185+25C>T (n.4185+25C>T)
c.4059+25C>T (n.4059+25C>T)
c.4182+25C>T (n.4182+25C>T)
c.4107+25C>T (n.4107+25C>T)
c.873+25C>T (n.873+25C>T)
c.735+25C>T (n.735+25C>T)
c.3297+25C>T (n.3297+25C>T)
c.4062+25C>T (n.4062+25C>T)
c.4044+25C>T (n.4044+25C>T)
c.753+25C>T (n.753+25C>T)
c.795+25C>T (n.795+25C>T)
c.506+25C>T
c.759+25C>T (n.759+25C>T)
c.*3968+25C>T (n.*3968+25C>T)
c.479+25C>T
c.876+25C>T (n.876+25C>T)
c.498+25C>T (n.498+25C>T)
c.501+25C>T (n.501+25C>T)
c.5-26968C>T (n.5-26968C>T)
c.-43-16398C>T (n.-43-16398C>T)
c.-99+34352C>T (n.-99+34352C>T)
n.4321+25C>T
n.4362+25C>T
 gnomAD v4
17g.43090919G>TCA2638063803BRCA1c.4185+25C>A (n.4185+25C>A)
c.4059+25C>A (n.4059+25C>A)
c.4182+25C>A (n.4182+25C>A)
c.4107+25C>A (n.4107+25C>A)
c.873+25C>A (n.873+25C>A)
c.735+25C>A (n.735+25C>A)
c.3297+25C>A (n.3297+25C>A)
c.4062+25C>A (n.4062+25C>A)
c.4044+25C>A (n.4044+25C>A)
c.753+25C>A (n.753+25C>A)
c.795+25C>A (n.795+25C>A)
c.506+25C>A
c.759+25C>A (n.759+25C>A)
c.*3968+25C>A (n.*3968+25C>A)
c.479+25C>A
c.876+25C>A (n.876+25C>A)
c.498+25C>A (n.498+25C>A)
c.501+25C>A (n.501+25C>A)
c.5-26968C>A (n.5-26968C>A)
c.-43-16398C>A (n.-43-16398C>A)
c.-99+34352C>A (n.-99+34352C>A)
n.4321+25C>A
n.4362+25C>A
 gnomAD v4
17g.43090920T>CCA059571BRCA1c.4185+24A>G (n.4185+24A>G)
c.4059+24A>G (n.4059+24A>G)
c.4182+24A>G (n.4182+24A>G)
c.4107+24A>G (n.4107+24A>G)
c.873+24A>G (n.873+24A>G)
c.735+24A>G (n.735+24A>G)
c.3297+24A>G (n.3297+24A>G)
c.4062+24A>G (n.4062+24A>G)
c.4044+24A>G (n.4044+24A>G)
c.753+24A>G (n.753+24A>G)
c.795+24A>G (n.795+24A>G)
c.506+24A>G
c.759+24A>G (n.759+24A>G)
c.*3968+24A>G (n.*3968+24A>G)
c.479+24A>G
c.876+24A>G (n.876+24A>G)
c.498+24A>G (n.498+24A>G)
c.501+24A>G (n.501+24A>G)
c.5-26969A>G (n.5-26969A>G)
c.-43-16399A>G (n.-43-16399A>G)
c.-99+34351A>G (n.-99+34351A>G)
n.4321+24A>G
n.4362+24A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090920T>GCA059564BRCA1c.4185+24A>C (n.4185+24A>C)
c.4059+24A>C (n.4059+24A>C)
c.4182+24A>C (n.4182+24A>C)
c.4107+24A>C (n.4107+24A>C)
c.873+24A>C (n.873+24A>C)
c.735+24A>C (n.735+24A>C)
c.3297+24A>C (n.3297+24A>C)
c.4062+24A>C (n.4062+24A>C)
c.4044+24A>C (n.4044+24A>C)
c.753+24A>C (n.753+24A>C)
c.795+24A>C (n.795+24A>C)
c.506+24A>C
c.759+24A>C (n.759+24A>C)
c.*3968+24A>C (n.*3968+24A>C)
c.479+24A>C
c.876+24A>C (n.876+24A>C)
c.498+24A>C (n.498+24A>C)
c.501+24A>C (n.501+24A>C)
c.5-26969A>C (n.5-26969A>C)
c.-43-16399A>C (n.-43-16399A>C)
c.-99+34351A>C (n.-99+34351A>C)
n.4321+24A>C
n.4362+24A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090920T=CA2260781605BRCA1c.4185+24A= (n.4185+24A=)
c.4059+24A= (n.4059+24A=)
c.4182+24A= (n.4182+24A=)
c.4107+24A= (n.4107+24A=)
c.873+24A= (n.873+24A=)
c.735+24A= (n.735+24A=)
c.3297+24A= (n.3297+24A=)
c.4062+24A= (n.4062+24A=)
c.4044+24A= (n.4044+24A=)
c.753+24A= (n.753+24A=)
c.795+24A= (n.795+24A=)
c.506+24A=
c.759+24A= (n.759+24A=)
c.*3968+24A= (n.*3968+24A=)
c.479+24A=
c.876+24A= (n.876+24A=)
c.498+24A= (n.498+24A=)
c.501+24A= (n.501+24A=)
c.5-26969A= (n.5-26969A=)
c.-43-16399A= (n.-43-16399A=)
c.-99+34351A= (n.-99+34351A=)
n.4321+24A=
n.4362+24A=
17g.43090921G>ACA2576282514BRCA1c.4185+23C>T (n.4185+23C>T)
c.4059+23C>T (n.4059+23C>T)
c.4182+23C>T (n.4182+23C>T)
c.4107+23C>T (n.4107+23C>T)
c.873+23C>T (n.873+23C>T)
c.735+23C>T (n.735+23C>T)
c.3297+23C>T (n.3297+23C>T)
c.4062+23C>T (n.4062+23C>T)
c.4044+23C>T (n.4044+23C>T)
c.753+23C>T (n.753+23C>T)
c.795+23C>T (n.795+23C>T)
c.506+23C>T
c.759+23C>T (n.759+23C>T)
c.*3968+23C>T (n.*3968+23C>T)
c.479+23C>T
c.876+23C>T (n.876+23C>T)
c.498+23C>T (n.498+23C>T)
c.501+23C>T (n.501+23C>T)
c.5-26970C>T (n.5-26970C>T)
c.-43-16400C>T (n.-43-16400C>T)
c.-99+34350C>T (n.-99+34350C>T)
n.4321+23C>T
n.4362+23C>T
 gnomAD v4
17g.43090921G>TCA2638063812BRCA1c.4185+23C>A (n.4185+23C>A)
c.4059+23C>A (n.4059+23C>A)
c.4182+23C>A (n.4182+23C>A)
c.4107+23C>A (n.4107+23C>A)
c.873+23C>A (n.873+23C>A)
c.735+23C>A (n.735+23C>A)
c.3297+23C>A (n.3297+23C>A)
c.4062+23C>A (n.4062+23C>A)
c.4044+23C>A (n.4044+23C>A)
c.753+23C>A (n.753+23C>A)
c.795+23C>A (n.795+23C>A)
c.506+23C>A
c.759+23C>A (n.759+23C>A)
c.*3968+23C>A (n.*3968+23C>A)
c.479+23C>A
c.876+23C>A (n.876+23C>A)
c.498+23C>A (n.498+23C>A)
c.501+23C>A (n.501+23C>A)
c.5-26970C>A (n.5-26970C>A)
c.-43-16400C>A (n.-43-16400C>A)
c.-99+34350C>A (n.-99+34350C>A)
n.4321+23C>A
n.4362+23C>A
 gnomAD v4
17g.43090921_43090922delCA2576282513BRCA1c.4185+22_4185+23del (n.4185+22_4185+23del)
c.4059+22_4059+23del (n.4059+22_4059+23del)
c.4182+22_4182+23del (n.4182+22_4182+23del)
c.4107+22_4107+23del (n.4107+22_4107+23del)
c.873+22_873+23del (n.873+22_873+23del)
c.735+22_735+23del (n.735+22_735+23del)
c.3297+22_3297+23del (n.3297+22_3297+23del)
c.4062+22_4062+23del (n.4062+22_4062+23del)
c.4044+22_4044+23del (n.4044+22_4044+23del)
c.753+22_753+23del (n.753+22_753+23del)
c.795+22_795+23del (n.795+22_795+23del)
c.506+22_506+23del
c.759+22_759+23del (n.759+22_759+23del)
c.*3968+22_*3968+23del (n.*3968+22_*3968+23del)
c.479+22_479+23del
c.876+22_876+23del (n.876+22_876+23del)
c.498+22_498+23del (n.498+22_498+23del)
c.501+22_501+23del (n.501+22_501+23del)
c.5-26971_5-26970del (n.5-26971_5-26970del)
c.-43-16401_-43-16400del (n.-43-16401_-43-16400del)
c.-99+34349_-99+34350del (n.-99+34349_-99+34350del)
n.4321+22_4321+23del
n.4362+22_4362+23del
 gnomAD v4
17g.43090921_43090925delinsGCACACA2260781606BRCA1c.4185+19_4185+23delinsTGTGC (n.4185+19_4185+23delinsTGTGC)
c.4059+19_4059+23delinsTGTGC (n.4059+19_4059+23delinsTGTGC)
c.4182+19_4182+23delinsTGTGC (n.4182+19_4182+23delinsTGTGC)
c.4107+19_4107+23delinsTGTGC (n.4107+19_4107+23delinsTGTGC)
c.873+19_873+23delinsTGTGC (n.873+19_873+23delinsTGTGC)
c.735+19_735+23delinsTGTGC (n.735+19_735+23delinsTGTGC)
c.3297+19_3297+23delinsTGTGC (n.3297+19_3297+23delinsTGTGC)
c.4062+19_4062+23delinsTGTGC (n.4062+19_4062+23delinsTGTGC)
c.4044+19_4044+23delinsTGTGC (n.4044+19_4044+23delinsTGTGC)
c.753+19_753+23delinsTGTGC (n.753+19_753+23delinsTGTGC)
c.795+19_795+23delinsTGTGC (n.795+19_795+23delinsTGTGC)
c.506+19_506+23delinsTGTGC
c.759+19_759+23delinsTGTGC (n.759+19_759+23delinsTGTGC)
c.*3968+19_*3968+23delinsTGTGC (n.*3968+19_*3968+23delinsTGTGC)
c.479+19_479+23delinsTGTGC
c.876+19_876+23delinsTGTGC (n.876+19_876+23delinsTGTGC)
c.498+19_498+23delinsTGTGC (n.498+19_498+23delinsTGTGC)
c.501+19_501+23delinsTGTGC (n.501+19_501+23delinsTGTGC)
c.5-26974_5-26970delinsTGTGC (n.5-26974_5-26970delinsTGTGC)
c.-43-16404_-43-16400delinsTGTGC (n.-43-16404_-43-16400delinsTGTGC)
c.-99+34346_-99+34350delinsTGTGC (n.-99+34346_-99+34350delinsTGTGC)
n.4321+19_4321+23delinsTGTGC
n.4362+19_4362+23delinsTGTGC
17g.43090921_43090940delinsGCACACACACACACGCTTTTCA2260781607BRCA1c.4185+4_4185+23delinsAAAAGCGTGTGTGTGTGTGC (n.4185+4_4185+23delinsAAAAGCGTGTGTGTGTGTGC)
c.4059+4_4059+23delinsAAAAGCGTGTGTGTGTGTGC (n.4059+4_4059+23delinsAAAAGCGTGTGTGTGTGTGC)
c.4182+4_4182+23delinsAAAAGCGTGTGTGTGTGTGC (n.4182+4_4182+23delinsAAAAGCGTGTGTGTGTGTGC)
c.4107+4_4107+23delinsAAAAGCGTGTGTGTGTGTGC (n.4107+4_4107+23delinsAAAAGCGTGTGTGTGTGTGC)
c.873+4_873+23delinsAAAAGCGTGTGTGTGTGTGC (n.873+4_873+23delinsAAAAGCGTGTGTGTGTGTGC)
c.735+4_735+23delinsAAAAGCGTGTGTGTGTGTGC (n.735+4_735+23delinsAAAAGCGTGTGTGTGTGTGC)
c.3297+4_3297+23delinsAAAAGCGTGTGTGTGTGTGC (n.3297+4_3297+23delinsAAAAGCGTGTGTGTGTGTGC)
c.4062+4_4062+23delinsAAAAGCGTGTGTGTGTGTGC (n.4062+4_4062+23delinsAAAAGCGTGTGTGTGTGTGC)
c.4044+4_4044+23delinsAAAAGCGTGTGTGTGTGTGC (n.4044+4_4044+23delinsAAAAGCGTGTGTGTGTGTGC)
c.753+4_753+23delinsAAAAGCGTGTGTGTGTGTGC (n.753+4_753+23delinsAAAAGCGTGTGTGTGTGTGC)
c.795+4_795+23delinsAAAAGCGTGTGTGTGTGTGC (n.795+4_795+23delinsAAAAGCGTGTGTGTGTGTGC)
c.506+4_506+23delinsAAAAGCGTGTGTGTGTGTGC
c.759+4_759+23delinsAAAAGCGTGTGTGTGTGTGC (n.759+4_759+23delinsAAAAGCGTGTGTGTGTGTGC)
c.*3968+4_*3968+23delinsAAAAGCGTGTGTGTGTGTGC (n.*3968+4_*3968+23delinsAAAAGCGTGTGTGTGTGTGC)
c.479+4_479+23delinsAAAAGCGTGTGTGTGTGTGC
c.876+4_876+23delinsAAAAGCGTGTGTGTGTGTGC (n.876+4_876+23delinsAAAAGCGTGTGTGTGTGTGC)
c.498+4_498+23delinsAAAAGCGTGTGTGTGTGTGC (n.498+4_498+23delinsAAAAGCGTGTGTGTGTGTGC)
c.501+4_501+23delinsAAAAGCGTGTGTGTGTGTGC (n.501+4_501+23delinsAAAAGCGTGTGTGTGTGTGC)
c.5-26989_5-26970delinsAAAAGCGTGTGTGTGTGTGC (n.5-26989_5-26970delinsAAAAGCGTGTGTGTGTGTGC)
c.-43-16419_-43-16400delinsAAAAGCGTGTGTGTGTGTGC (n.-43-16419_-43-16400delinsAAAAGCGTGTGTGTGTGTGC)
c.-99+34331_-99+34350delinsAAAAGCGTGTGTGTGTGTGC (n.-99+34331_-99+34350delinsAAAAGCGTGTGTGTGTGTGC)
n.4321+4_4321+23delinsAAAAGCGTGTGTGTGTGTGC
n.4362+4_4362+23delinsAAAAGCGTGTGTGTGTGTGC
17g.43090921_43090942delinsGCACACACACACACGCTTTTTACA2260781608BRCA1c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.506+2_506+23delinsTAAAAAGCGTGTGTGTGTGTGC
c.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.479+2_479+23delinsTAAAAAGCGTGTGTGTGTGTGC
c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC)
c.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGTGC (n.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGTGC)
c.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGTGTGTGC (n.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGTGTGTGC)
c.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGTGTGTGC (n.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGTGTGTGC)
n.4321+2_4321+23delinsTAAAAAGCGTGTGTGTGTGTGC
n.4362+2_4362+23delinsTAAAAAGCGTGTGTGTGTGTGC
17g.43090922C>GCA2733921549BRCA1c.4185+22G>C (n.4185+22G>C)
c.4059+22G>C (n.4059+22G>C)
c.4182+22G>C (n.4182+22G>C)
c.4107+22G>C (n.4107+22G>C)
c.873+22G>C (n.873+22G>C)
c.735+22G>C (n.735+22G>C)
c.3297+22G>C (n.3297+22G>C)
c.4062+22G>C (n.4062+22G>C)
c.4044+22G>C (n.4044+22G>C)
c.753+22G>C (n.753+22G>C)
c.795+22G>C (n.795+22G>C)
c.506+22G>C
c.759+22G>C (n.759+22G>C)
c.*3968+22G>C (n.*3968+22G>C)
c.479+22G>C
c.876+22G>C (n.876+22G>C)
c.498+22G>C (n.498+22G>C)
c.501+22G>C (n.501+22G>C)
c.5-26971G>C (n.5-26971G>C)
c.-43-16401G>C (n.-43-16401G>C)
c.-99+34349G>C (n.-99+34349G>C)
n.4321+22G>C
n.4362+22G>C
 dbSNP
17g.43090922C>TCA2638063821BRCA1c.4185+22G>A (n.4185+22G>A)
c.4059+22G>A (n.4059+22G>A)
c.4182+22G>A (n.4182+22G>A)
c.4107+22G>A (n.4107+22G>A)
c.873+22G>A (n.873+22G>A)
c.735+22G>A (n.735+22G>A)
c.3297+22G>A (n.3297+22G>A)
c.4062+22G>A (n.4062+22G>A)
c.4044+22G>A (n.4044+22G>A)
c.753+22G>A (n.753+22G>A)
c.795+22G>A (n.795+22G>A)
c.506+22G>A
c.759+22G>A (n.759+22G>A)
c.*3968+22G>A (n.*3968+22G>A)
c.479+22G>A
c.876+22G>A (n.876+22G>A)
c.498+22G>A (n.498+22G>A)
c.501+22G>A (n.501+22G>A)
c.5-26971G>A (n.5-26971G>A)
c.-43-16401G>A (n.-43-16401G>A)
c.-99+34349G>A (n.-99+34349G>A)
n.4321+22G>A
n.4362+22G>A
 gnomAD v4
17g.43090933_43090934dupCA002685BRCA1c.4185+21_4185+22dup (n.4185+21_4185+22dup)
c.4059+21_4059+22dup (n.4059+21_4059+22dup)
c.4182+21_4182+22dup (n.4182+21_4182+22dup)
c.4107+21_4107+22dup (n.4107+21_4107+22dup)
c.873+21_873+22dup (n.873+21_873+22dup)
c.735+21_735+22dup (n.735+21_735+22dup)
c.3297+21_3297+22dup (n.3297+21_3297+22dup)
c.4062+21_4062+22dup (n.4062+21_4062+22dup)
c.4044+21_4044+22dup (n.4044+21_4044+22dup)
c.753+21_753+22dup (n.753+21_753+22dup)
c.795+21_795+22dup (n.795+21_795+22dup)
c.506+21_506+22dup
c.759+21_759+22dup (n.759+21_759+22dup)
c.*3968+21_*3968+22dup (n.*3968+21_*3968+22dup)
c.479+21_479+22dup
c.876+21_876+22dup (n.876+21_876+22dup)
c.498+21_498+22dup (n.498+21_498+22dup)
c.501+21_501+22dup (n.501+21_501+22dup)
c.5-26972_5-26971dup (n.5-26972_5-26971dup)
c.-43-16402_-43-16401dup (n.-43-16402_-43-16401dup)
c.-99+34348_-99+34349dup (n.-99+34348_-99+34349dup)
n.4321+21_4321+22dup
n.4362+21_4362+22dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090933_43090934delCA002681BRCA1c.4185+21_4185+22del (n.4185+21_4185+22del)
c.4059+21_4059+22del (n.4059+21_4059+22del)
c.4182+21_4182+22del (n.4182+21_4182+22del)
c.4107+21_4107+22del (n.4107+21_4107+22del)
c.873+21_873+22del (n.873+21_873+22del)
c.735+21_735+22del (n.735+21_735+22del)
c.3297+21_3297+22del (n.3297+21_3297+22del)
c.4062+21_4062+22del (n.4062+21_4062+22del)
c.4044+21_4044+22del (n.4044+21_4044+22del)
c.753+21_753+22del (n.753+21_753+22del)
c.795+21_795+22del (n.795+21_795+22del)
c.506+21_506+22del
c.759+21_759+22del (n.759+21_759+22del)
c.*3968+21_*3968+22del (n.*3968+21_*3968+22del)
c.479+21_479+22del
c.876+21_876+22del (n.876+21_876+22del)
c.498+21_498+22del (n.498+21_498+22del)
c.501+21_501+22del (n.501+21_501+22del)
c.5-26972_5-26971del (n.5-26972_5-26971del)
c.-43-16402_-43-16401del (n.-43-16402_-43-16401del)
c.-99+34348_-99+34349del (n.-99+34348_-99+34349del)
n.4321+21_4321+22del
n.4362+21_4362+22del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.43090931_43090934delCA915950067BRCA1c.4185+19_4185+22del (n.4185+19_4185+22del)
c.4059+19_4059+22del (n.4059+19_4059+22del)
c.4182+19_4182+22del (n.4182+19_4182+22del)
c.4107+19_4107+22del (n.4107+19_4107+22del)
c.873+19_873+22del (n.873+19_873+22del)
c.735+19_735+22del (n.735+19_735+22del)
c.3297+19_3297+22del (n.3297+19_3297+22del)
c.4062+19_4062+22del (n.4062+19_4062+22del)
c.4044+19_4044+22del (n.4044+19_4044+22del)
c.753+19_753+22del (n.753+19_753+22del)
c.795+19_795+22del (n.795+19_795+22del)
c.506+19_506+22del
c.759+19_759+22del (n.759+19_759+22del)
c.*3968+19_*3968+22del (n.*3968+19_*3968+22del)
c.479+19_479+22del
c.876+19_876+22del (n.876+19_876+22del)
c.498+19_498+22del (n.498+19_498+22del)
c.501+19_501+22del (n.501+19_501+22del)
c.5-26974_5-26971del (n.5-26974_5-26971del)
c.-43-16404_-43-16401del (n.-43-16404_-43-16401del)
c.-99+34346_-99+34349del (n.-99+34346_-99+34349del)
n.4321+19_4321+22del
n.4362+19_4362+22del
 ClinVar dbSNP gnomAD v4
17g.43090922_43090940delCA1139665599BRCA1c.4185+4_4185+22del (n.4185+4_4185+22del)
c.4059+4_4059+22del (n.4059+4_4059+22del)
c.4182+4_4182+22del (n.4182+4_4182+22del)
c.4107+4_4107+22del (n.4107+4_4107+22del)
c.873+4_873+22del (n.873+4_873+22del)
c.735+4_735+22del (n.735+4_735+22del)
c.3297+4_3297+22del (n.3297+4_3297+22del)
c.4062+4_4062+22del (n.4062+4_4062+22del)
c.4044+4_4044+22del (n.4044+4_4044+22del)
c.753+4_753+22del (n.753+4_753+22del)
c.795+4_795+22del (n.795+4_795+22del)
c.506+4_506+22del
c.759+4_759+22del (n.759+4_759+22del)
c.*3968+4_*3968+22del (n.*3968+4_*3968+22del)
c.479+4_479+22del
c.876+4_876+22del (n.876+4_876+22del)
c.498+4_498+22del (n.498+4_498+22del)
c.501+4_501+22del (n.501+4_501+22del)
c.5-26989_5-26971del (n.5-26989_5-26971del)
c.-43-16419_-43-16401del (n.-43-16419_-43-16401del)
c.-99+34331_-99+34349del (n.-99+34331_-99+34349del)
n.4321+4_4321+22del
n.4362+4_4362+22del
 ClinVar dbSNP
17g.43090922_43090942delinsTCA260692BRCA1c.4185+2_4185+22delinsA (n.4185+2_4185+22delinsA)
c.4059+2_4059+22delinsA (n.4059+2_4059+22delinsA)
c.4182+2_4182+22delinsA (n.4182+2_4182+22delinsA)
c.4107+2_4107+22delinsA (n.4107+2_4107+22delinsA)
c.873+2_873+22delinsA (n.873+2_873+22delinsA)
c.735+2_735+22delinsA (n.735+2_735+22delinsA)
c.3297+2_3297+22delinsA (n.3297+2_3297+22delinsA)
c.4062+2_4062+22delinsA (n.4062+2_4062+22delinsA)
c.4044+2_4044+22delinsA (n.4044+2_4044+22delinsA)
c.753+2_753+22delinsA (n.753+2_753+22delinsA)
c.795+2_795+22delinsA (n.795+2_795+22delinsA)
c.506+2_506+22delinsA
c.759+2_759+22delinsA (n.759+2_759+22delinsA)
c.*3968+2_*3968+22delinsA (n.*3968+2_*3968+22delinsA)
c.479+2_479+22delinsA
c.876+2_876+22delinsA (n.876+2_876+22delinsA)
c.498+2_498+22delinsA (n.498+2_498+22delinsA)
c.501+2_501+22delinsA (n.501+2_501+22delinsA)
c.5-26991_5-26971delinsA (n.5-26991_5-26971delinsA)
c.-43-16421_-43-16401delinsA (n.-43-16421_-43-16401delinsA)
c.-99+34329_-99+34349delinsA (n.-99+34329_-99+34349delinsA)
n.4321+2_4321+22delinsA
n.4362+2_4362+22delinsA
 ClinVar dbSNP
17g.43090923A=CA2260781609BRCA1c.4185+21T= (n.4185+21T=)
c.4059+21T= (n.4059+21T=)
c.4182+21T= (n.4182+21T=)
c.4107+21T= (n.4107+21T=)
c.873+21T= (n.873+21T=)
c.735+21T= (n.735+21T=)
c.3297+21T= (n.3297+21T=)
c.4062+21T= (n.4062+21T=)
c.4044+21T= (n.4044+21T=)
c.753+21T= (n.753+21T=)
c.795+21T= (n.795+21T=)
c.506+21T=
c.759+21T= (n.759+21T=)
c.*3968+21T= (n.*3968+21T=)
c.479+21T=
c.876+21T= (n.876+21T=)
c.498+21T= (n.498+21T=)
c.501+21T= (n.501+21T=)
c.5-26972T= (n.5-26972T=)
c.-43-16402T= (n.-43-16402T=)
c.-99+34348T= (n.-99+34348T=)
n.4321+21T=
n.4362+21T=
17g.43090923A>CCA2733660870BRCA1c.4185+21T>G (n.4185+21T>G)
c.4059+21T>G (n.4059+21T>G)
c.4182+21T>G (n.4182+21T>G)
c.4107+21T>G (n.4107+21T>G)
c.873+21T>G (n.873+21T>G)
c.735+21T>G (n.735+21T>G)
c.3297+21T>G (n.3297+21T>G)
c.4062+21T>G (n.4062+21T>G)
c.4044+21T>G (n.4044+21T>G)
c.753+21T>G (n.753+21T>G)
c.795+21T>G (n.795+21T>G)
c.506+21T>G
c.759+21T>G (n.759+21T>G)
c.*3968+21T>G (n.*3968+21T>G)
c.479+21T>G
c.876+21T>G (n.876+21T>G)
c.498+21T>G (n.498+21T>G)
c.501+21T>G (n.501+21T>G)
c.5-26972T>G (n.5-26972T>G)
c.-43-16402T>G (n.-43-16402T>G)
c.-99+34348T>G (n.-99+34348T>G)
n.4321+21T>G
n.4362+21T>G
 dbSNP
17g.43090923A>GCA626075638BRCA1c.4185+21T>C (n.4185+21T>C)
c.4059+21T>C (n.4059+21T>C)
c.4182+21T>C (n.4182+21T>C)
c.4107+21T>C (n.4107+21T>C)
c.873+21T>C (n.873+21T>C)
c.735+21T>C (n.735+21T>C)
c.3297+21T>C (n.3297+21T>C)
c.4062+21T>C (n.4062+21T>C)
c.4044+21T>C (n.4044+21T>C)
c.753+21T>C (n.753+21T>C)
c.795+21T>C (n.795+21T>C)
c.506+21T>C
c.759+21T>C (n.759+21T>C)
c.*3968+21T>C (n.*3968+21T>C)
c.479+21T>C
c.876+21T>C (n.876+21T>C)
c.498+21T>C (n.498+21T>C)
c.501+21T>C (n.501+21T>C)
c.5-26972T>C (n.5-26972T>C)
c.-43-16402T>C (n.-43-16402T>C)
c.-99+34348T>C (n.-99+34348T>C)
n.4321+21T>C
n.4362+21T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090923A>TCA2733660869BRCA1c.4185+21T>A (n.4185+21T>A)
c.4059+21T>A (n.4059+21T>A)
c.4182+21T>A (n.4182+21T>A)
c.4107+21T>A (n.4107+21T>A)
c.873+21T>A (n.873+21T>A)
c.735+21T>A (n.735+21T>A)
c.3297+21T>A (n.3297+21T>A)
c.4062+21T>A (n.4062+21T>A)
c.4044+21T>A (n.4044+21T>A)
c.753+21T>A (n.753+21T>A)
c.795+21T>A (n.795+21T>A)
c.506+21T>A
c.759+21T>A (n.759+21T>A)
c.*3968+21T>A (n.*3968+21T>A)
c.479+21T>A
c.876+21T>A (n.876+21T>A)
c.498+21T>A (n.498+21T>A)
c.501+21T>A (n.501+21T>A)
c.5-26972T>A (n.5-26972T>A)
c.-43-16402T>A (n.-43-16402T>A)
c.-99+34348T>A (n.-99+34348T>A)
n.4321+21T>A
n.4362+21T>A
 dbSNP
17g.43090923_43090942delCA2499224432BRCA1c.4185+2_4185+21del (n.4185+2_4185+21del)
c.4059+2_4059+21del (n.4059+2_4059+21del)
c.4182+2_4182+21del (n.4182+2_4182+21del)
c.4107+2_4107+21del (n.4107+2_4107+21del)
c.873+2_873+21del (n.873+2_873+21del)
c.735+2_735+21del (n.735+2_735+21del)
c.3297+2_3297+21del (n.3297+2_3297+21del)
c.4062+2_4062+21del (n.4062+2_4062+21del)
c.4044+2_4044+21del (n.4044+2_4044+21del)
c.753+2_753+21del (n.753+2_753+21del)
c.795+2_795+21del (n.795+2_795+21del)
c.506+2_506+21del
c.759+2_759+21del (n.759+2_759+21del)
c.*3968+2_*3968+21del (n.*3968+2_*3968+21del)
c.479+2_479+21del
c.876+2_876+21del (n.876+2_876+21del)
c.498+2_498+21del (n.498+2_498+21del)
c.501+2_501+21del (n.501+2_501+21del)
c.5-26991_5-26972del (n.5-26991_5-26972del)
c.-43-16421_-43-16402del (n.-43-16421_-43-16402del)
c.-99+34329_-99+34348del (n.-99+34329_-99+34348del)
n.4321+2_4321+21del
n.4362+2_4362+21del
 ClinVar dbSNP
17g.43090924C=CA2260781610BRCA1c.4185+20G= (n.4185+20G=)
c.4059+20G= (n.4059+20G=)
c.4182+20G= (n.4182+20G=)
c.4107+20G= (n.4107+20G=)
c.873+20G= (n.873+20G=)
c.735+20G= (n.735+20G=)
c.3297+20G= (n.3297+20G=)
c.4062+20G= (n.4062+20G=)
c.4044+20G= (n.4044+20G=)
c.753+20G= (n.753+20G=)
c.795+20G= (n.795+20G=)
c.506+20G=
c.759+20G= (n.759+20G=)
c.*3968+20G= (n.*3968+20G=)
c.479+20G=
c.876+20G= (n.876+20G=)
c.498+20G= (n.498+20G=)
c.501+20G= (n.501+20G=)
c.5-26973G= (n.5-26973G=)
c.-43-16403G= (n.-43-16403G=)
c.-99+34347G= (n.-99+34347G=)
n.4321+20G=
n.4362+20G=
17g.43090924C>GCA2733677414BRCA1c.4185+20G>C (n.4185+20G>C)
c.4059+20G>C (n.4059+20G>C)
c.4182+20G>C (n.4182+20G>C)
c.4107+20G>C (n.4107+20G>C)
c.873+20G>C (n.873+20G>C)
c.735+20G>C (n.735+20G>C)
c.3297+20G>C (n.3297+20G>C)
c.4062+20G>C (n.4062+20G>C)
c.4044+20G>C (n.4044+20G>C)
c.753+20G>C (n.753+20G>C)
c.795+20G>C (n.795+20G>C)
c.506+20G>C
c.759+20G>C (n.759+20G>C)
c.*3968+20G>C (n.*3968+20G>C)
c.479+20G>C
c.876+20G>C (n.876+20G>C)
c.498+20G>C (n.498+20G>C)
c.501+20G>C (n.501+20G>C)
c.5-26973G>C (n.5-26973G>C)
c.-43-16403G>C (n.-43-16403G>C)
c.-99+34347G>C (n.-99+34347G>C)
n.4321+20G>C
n.4362+20G>C
 dbSNP
17g.43090924C>TCA915950069BRCA1c.4185+20G>A (n.4185+20G>A)
c.4059+20G>A (n.4059+20G>A)
c.4182+20G>A (n.4182+20G>A)
c.4107+20G>A (n.4107+20G>A)
c.873+20G>A (n.873+20G>A)
c.735+20G>A (n.735+20G>A)
c.3297+20G>A (n.3297+20G>A)
c.4062+20G>A (n.4062+20G>A)
c.4044+20G>A (n.4044+20G>A)
c.753+20G>A (n.753+20G>A)
c.795+20G>A (n.795+20G>A)
c.506+20G>A
c.759+20G>A (n.759+20G>A)
c.*3968+20G>A (n.*3968+20G>A)
c.479+20G>A
c.876+20G>A (n.876+20G>A)
c.498+20G>A (n.498+20G>A)
c.501+20G>A (n.501+20G>A)
c.5-26973G>A (n.5-26973G>A)
c.-43-16403G>A (n.-43-16403G>A)
c.-99+34347G>A (n.-99+34347G>A)
n.4321+20G>A
n.4362+20G>A
 ClinVar dbSNP gnomAD v4
17g.43090925A>CCA2733921636BRCA1c.4185+19T>G (n.4185+19T>G)
c.4059+19T>G (n.4059+19T>G)
c.4182+19T>G (n.4182+19T>G)
c.4107+19T>G (n.4107+19T>G)
c.873+19T>G (n.873+19T>G)
c.735+19T>G (n.735+19T>G)
c.3297+19T>G (n.3297+19T>G)
c.4062+19T>G (n.4062+19T>G)
c.4044+19T>G (n.4044+19T>G)
c.753+19T>G (n.753+19T>G)
c.795+19T>G (n.795+19T>G)
c.506+19T>G
c.759+19T>G (n.759+19T>G)
c.*3968+19T>G (n.*3968+19T>G)
c.479+19T>G
c.876+19T>G (n.876+19T>G)
c.498+19T>G (n.498+19T>G)
c.501+19T>G (n.501+19T>G)
c.5-26974T>G (n.5-26974T>G)
c.-43-16404T>G (n.-43-16404T>G)
c.-99+34346T>G (n.-99+34346T>G)
n.4321+19T>G
n.4362+19T>G
 dbSNP
17g.43090925A>GCA2580094027BRCA1c.4185+19T>C (n.4185+19T>C)
c.4059+19T>C (n.4059+19T>C)
c.4182+19T>C (n.4182+19T>C)
c.4107+19T>C (n.4107+19T>C)
c.873+19T>C (n.873+19T>C)
c.735+19T>C (n.735+19T>C)
c.3297+19T>C (n.3297+19T>C)
c.4062+19T>C (n.4062+19T>C)
c.4044+19T>C (n.4044+19T>C)
c.753+19T>C (n.753+19T>C)
c.795+19T>C (n.795+19T>C)
c.506+19T>C
c.759+19T>C (n.759+19T>C)
c.*3968+19T>C (n.*3968+19T>C)
c.479+19T>C
c.876+19T>C (n.876+19T>C)
c.498+19T>C (n.498+19T>C)
c.501+19T>C (n.501+19T>C)
c.5-26974T>C (n.5-26974T>C)
c.-43-16404T>C (n.-43-16404T>C)
c.-99+34346T>C (n.-99+34346T>C)
n.4321+19T>C
n.4362+19T>C
 ClinVar dbSNP gnomAD v4
17g.43090925A>TCA2733921711BRCA1c.4185+19T>A (n.4185+19T>A)
c.4059+19T>A (n.4059+19T>A)
c.4182+19T>A (n.4182+19T>A)
c.4107+19T>A (n.4107+19T>A)
c.873+19T>A (n.873+19T>A)
c.735+19T>A (n.735+19T>A)
c.3297+19T>A (n.3297+19T>A)
c.4062+19T>A (n.4062+19T>A)
c.4044+19T>A (n.4044+19T>A)
c.753+19T>A (n.753+19T>A)
c.795+19T>A (n.795+19T>A)
c.506+19T>A
c.759+19T>A (n.759+19T>A)
c.*3968+19T>A (n.*3968+19T>A)
c.479+19T>A
c.876+19T>A (n.876+19T>A)
c.498+19T>A (n.498+19T>A)
c.501+19T>A (n.501+19T>A)
c.5-26974T>A (n.5-26974T>A)
c.-43-16404T>A (n.-43-16404T>A)
c.-99+34346T>A (n.-99+34346T>A)
n.4321+19T>A
n.4362+19T>A
 dbSNP
17g.43090925_43090926delinsACCA2260781611BRCA1c.4185+18_4185+19delinsGT (n.4185+18_4185+19delinsGT)
c.4059+18_4059+19delinsGT (n.4059+18_4059+19delinsGT)
c.4182+18_4182+19delinsGT (n.4182+18_4182+19delinsGT)
c.4107+18_4107+19delinsGT (n.4107+18_4107+19delinsGT)
c.873+18_873+19delinsGT (n.873+18_873+19delinsGT)
c.735+18_735+19delinsGT (n.735+18_735+19delinsGT)
c.3297+18_3297+19delinsGT (n.3297+18_3297+19delinsGT)
c.4062+18_4062+19delinsGT (n.4062+18_4062+19delinsGT)
c.4044+18_4044+19delinsGT (n.4044+18_4044+19delinsGT)
c.753+18_753+19delinsGT (n.753+18_753+19delinsGT)
c.795+18_795+19delinsGT (n.795+18_795+19delinsGT)
c.506+18_506+19delinsGT
c.759+18_759+19delinsGT (n.759+18_759+19delinsGT)
c.*3968+18_*3968+19delinsGT (n.*3968+18_*3968+19delinsGT)
c.479+18_479+19delinsGT
c.876+18_876+19delinsGT (n.876+18_876+19delinsGT)
c.498+18_498+19delinsGT (n.498+18_498+19delinsGT)
c.501+18_501+19delinsGT (n.501+18_501+19delinsGT)
c.5-26975_5-26974delinsGT (n.5-26975_5-26974delinsGT)
c.-43-16405_-43-16404delinsGT (n.-43-16405_-43-16404delinsGT)
c.-99+34345_-99+34346delinsGT (n.-99+34345_-99+34346delinsGT)
n.4321+18_4321+19delinsGT
n.4362+18_4362+19delinsGT
17g.43090926delCA915950070BRCA1c.4185+18del (n.4185+18del)
c.4059+18del (n.4059+18del)
c.4182+18del (n.4182+18del)
c.4107+18del (n.4107+18del)
c.873+18del (n.873+18del)
c.735+18del (n.735+18del)
c.3297+18del (n.3297+18del)
c.4062+18del (n.4062+18del)
c.4044+18del (n.4044+18del)
c.753+18del (n.753+18del)
c.795+18del (n.795+18del)
c.506+18del
c.759+18del (n.759+18del)
c.*3968+18del (n.*3968+18del)
c.479+18del
c.876+18del (n.876+18del)
c.498+18del (n.498+18del)
c.501+18del (n.501+18del)
c.5-26975del (n.5-26975del)
c.-43-16405del (n.-43-16405del)
c.-99+34345del (n.-99+34345del)
n.4321+18del
n.4362+18del
 ClinVar dbSNP
17g.43090926C>ACA2733670898BRCA1c.4185+18G>T (n.4185+18G>T)
c.4059+18G>T (n.4059+18G>T)
c.4182+18G>T (n.4182+18G>T)
c.4107+18G>T (n.4107+18G>T)
c.873+18G>T (n.873+18G>T)
c.735+18G>T (n.735+18G>T)
c.3297+18G>T (n.3297+18G>T)
c.4062+18G>T (n.4062+18G>T)
c.4044+18G>T (n.4044+18G>T)
c.753+18G>T (n.753+18G>T)
c.795+18G>T (n.795+18G>T)
c.506+18G>T
c.759+18G>T (n.759+18G>T)
c.*3968+18G>T (n.*3968+18G>T)
c.479+18G>T
c.876+18G>T (n.876+18G>T)
c.498+18G>T (n.498+18G>T)
c.501+18G>T (n.501+18G>T)
c.5-26975G>T (n.5-26975G>T)
c.-43-16405G>T (n.-43-16405G>T)
c.-99+34345G>T (n.-99+34345G>T)
n.4321+18G>T
n.4362+18G>T
 dbSNP
17g.43090926C=CA2260781612BRCA1c.4185+18G= (n.4185+18G=)
c.4059+18G= (n.4059+18G=)
c.4182+18G= (n.4182+18G=)
c.4107+18G= (n.4107+18G=)
c.873+18G= (n.873+18G=)
c.735+18G= (n.735+18G=)
c.3297+18G= (n.3297+18G=)
c.4062+18G= (n.4062+18G=)
c.4044+18G= (n.4044+18G=)
c.753+18G= (n.753+18G=)
c.795+18G= (n.795+18G=)
c.506+18G=
c.759+18G= (n.759+18G=)
c.*3968+18G= (n.*3968+18G=)
c.479+18G=
c.876+18G= (n.876+18G=)
c.498+18G= (n.498+18G=)
c.501+18G= (n.501+18G=)
c.5-26975G= (n.5-26975G=)
c.-43-16405G= (n.-43-16405G=)
c.-99+34345G= (n.-99+34345G=)
n.4321+18G=
n.4362+18G=
17g.43090926C>GCA2733670899BRCA1c.4185+18G>C (n.4185+18G>C)
c.4059+18G>C (n.4059+18G>C)
c.4182+18G>C (n.4182+18G>C)
c.4107+18G>C (n.4107+18G>C)
c.873+18G>C (n.873+18G>C)
c.735+18G>C (n.735+18G>C)
c.3297+18G>C (n.3297+18G>C)
c.4062+18G>C (n.4062+18G>C)
c.4044+18G>C (n.4044+18G>C)
c.753+18G>C (n.753+18G>C)
c.795+18G>C (n.795+18G>C)
c.506+18G>C
c.759+18G>C (n.759+18G>C)
c.*3968+18G>C (n.*3968+18G>C)
c.479+18G>C
c.876+18G>C (n.876+18G>C)
c.498+18G>C (n.498+18G>C)
c.501+18G>C (n.501+18G>C)
c.5-26975G>C (n.5-26975G>C)
c.-43-16405G>C (n.-43-16405G>C)
c.-99+34345G>C (n.-99+34345G>C)
n.4321+18G>C
n.4362+18G>C
 dbSNP
17g.43090926C>TCA626075641BRCA1c.4185+18G>A (n.4185+18G>A)
c.4059+18G>A (n.4059+18G>A)
c.4182+18G>A (n.4182+18G>A)
c.4107+18G>A (n.4107+18G>A)
c.873+18G>A (n.873+18G>A)
c.735+18G>A (n.735+18G>A)
c.3297+18G>A (n.3297+18G>A)
c.4062+18G>A (n.4062+18G>A)
c.4044+18G>A (n.4044+18G>A)
c.753+18G>A (n.753+18G>A)
c.795+18G>A (n.795+18G>A)
c.506+18G>A
c.759+18G>A (n.759+18G>A)
c.*3968+18G>A (n.*3968+18G>A)
c.479+18G>A
c.876+18G>A (n.876+18G>A)
c.498+18G>A (n.498+18G>A)
c.501+18G>A (n.501+18G>A)
c.5-26975G>A (n.5-26975G>A)
c.-43-16405G>A (n.-43-16405G>A)
c.-99+34345G>A (n.-99+34345G>A)
n.4321+18G>A
n.4362+18G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090927A>CCA2733921716BRCA1c.4185+17T>G (n.4185+17T>G)
c.4059+17T>G (n.4059+17T>G)
c.4182+17T>G (n.4182+17T>G)
c.4107+17T>G (n.4107+17T>G)
c.873+17T>G (n.873+17T>G)
c.735+17T>G (n.735+17T>G)
c.3297+17T>G (n.3297+17T>G)
c.4062+17T>G (n.4062+17T>G)
c.4044+17T>G (n.4044+17T>G)
c.753+17T>G (n.753+17T>G)
c.795+17T>G (n.795+17T>G)
c.506+17T>G
c.759+17T>G (n.759+17T>G)
c.*3968+17T>G (n.*3968+17T>G)
c.479+17T>G
c.876+17T>G (n.876+17T>G)
c.498+17T>G (n.498+17T>G)
c.501+17T>G (n.501+17T>G)
c.5-26976T>G (n.5-26976T>G)
c.-43-16406T>G (n.-43-16406T>G)
c.-99+34344T>G (n.-99+34344T>G)
n.4321+17T>G
n.4362+17T>G
 dbSNP
17g.43090927A>GCA2499224433BRCA1c.4185+17T>C (n.4185+17T>C)
c.4059+17T>C (n.4059+17T>C)
c.4182+17T>C (n.4182+17T>C)
c.4107+17T>C (n.4107+17T>C)
c.873+17T>C (n.873+17T>C)
c.735+17T>C (n.735+17T>C)
c.3297+17T>C (n.3297+17T>C)
c.4062+17T>C (n.4062+17T>C)
c.4044+17T>C (n.4044+17T>C)
c.753+17T>C (n.753+17T>C)
c.795+17T>C (n.795+17T>C)
c.506+17T>C
c.759+17T>C (n.759+17T>C)
c.*3968+17T>C (n.*3968+17T>C)
c.479+17T>C
c.876+17T>C (n.876+17T>C)
c.498+17T>C (n.498+17T>C)
c.501+17T>C (n.501+17T>C)
c.5-26976T>C (n.5-26976T>C)
c.-43-16406T>C (n.-43-16406T>C)
c.-99+34344T>C (n.-99+34344T>C)
n.4321+17T>C
n.4362+17T>C
 ClinVar dbSNP
17g.43090927A>TCA2733921983BRCA1c.4185+17T>A (n.4185+17T>A)
c.4059+17T>A (n.4059+17T>A)
c.4182+17T>A (n.4182+17T>A)
c.4107+17T>A (n.4107+17T>A)
c.873+17T>A (n.873+17T>A)
c.735+17T>A (n.735+17T>A)
c.3297+17T>A (n.3297+17T>A)
c.4062+17T>A (n.4062+17T>A)
c.4044+17T>A (n.4044+17T>A)
c.753+17T>A (n.753+17T>A)
c.795+17T>A (n.795+17T>A)
c.506+17T>A
c.759+17T>A (n.759+17T>A)
c.*3968+17T>A (n.*3968+17T>A)
c.479+17T>A
c.876+17T>A (n.876+17T>A)
c.498+17T>A (n.498+17T>A)
c.501+17T>A (n.501+17T>A)
c.5-26976T>A (n.5-26976T>A)
c.-43-16406T>A (n.-43-16406T>A)
c.-99+34344T>A (n.-99+34344T>A)
n.4321+17T>A
n.4362+17T>A
 dbSNP
17g.43090927_43090928delinsACCA2260781613BRCA1c.4185+16_4185+17delinsGT (n.4185+16_4185+17delinsGT)
c.4059+16_4059+17delinsGT (n.4059+16_4059+17delinsGT)
c.4182+16_4182+17delinsGT (n.4182+16_4182+17delinsGT)
c.4107+16_4107+17delinsGT (n.4107+16_4107+17delinsGT)
c.873+16_873+17delinsGT (n.873+16_873+17delinsGT)
c.735+16_735+17delinsGT (n.735+16_735+17delinsGT)
c.3297+16_3297+17delinsGT (n.3297+16_3297+17delinsGT)
c.4062+16_4062+17delinsGT (n.4062+16_4062+17delinsGT)
c.4044+16_4044+17delinsGT (n.4044+16_4044+17delinsGT)
c.753+16_753+17delinsGT (n.753+16_753+17delinsGT)
c.795+16_795+17delinsGT (n.795+16_795+17delinsGT)
c.506+16_506+17delinsGT
c.759+16_759+17delinsGT (n.759+16_759+17delinsGT)
c.*3968+16_*3968+17delinsGT (n.*3968+16_*3968+17delinsGT)
c.479+16_479+17delinsGT
c.876+16_876+17delinsGT (n.876+16_876+17delinsGT)
c.498+16_498+17delinsGT (n.498+16_498+17delinsGT)
c.501+16_501+17delinsGT (n.501+16_501+17delinsGT)
c.5-26977_5-26976delinsGT (n.5-26977_5-26976delinsGT)
c.-43-16407_-43-16406delinsGT (n.-43-16407_-43-16406delinsGT)
c.-99+34343_-99+34344delinsGT (n.-99+34343_-99+34344delinsGT)
n.4321+16_4321+17delinsGT
n.4362+16_4362+17delinsGT
17g.43090928delCA915950071BRCA1c.4185+16del (n.4185+16del)
c.4059+16del (n.4059+16del)
c.4182+16del (n.4182+16del)
c.4107+16del (n.4107+16del)
c.873+16del (n.873+16del)
c.735+16del (n.735+16del)
c.3297+16del (n.3297+16del)
c.4062+16del (n.4062+16del)
c.4044+16del (n.4044+16del)
c.753+16del (n.753+16del)
c.795+16del (n.795+16del)
c.506+16del
c.759+16del (n.759+16del)
c.*3968+16del (n.*3968+16del)
c.479+16del
c.876+16del (n.876+16del)
c.498+16del (n.498+16del)
c.501+16del (n.501+16del)
c.5-26977del (n.5-26977del)
c.-43-16407del (n.-43-16407del)
c.-99+34343del (n.-99+34343del)
n.4321+16del
n.4362+16del
 ClinVar dbSNP
17g.43090928C>ACA059547BRCA1c.4185+16G>T (n.4185+16G>T)
c.4059+16G>T (n.4059+16G>T)
c.4182+16G>T (n.4182+16G>T)
c.4107+16G>T (n.4107+16G>T)
c.873+16G>T (n.873+16G>T)
c.735+16G>T (n.735+16G>T)
c.3297+16G>T (n.3297+16G>T)
c.4062+16G>T (n.4062+16G>T)
c.4044+16G>T (n.4044+16G>T)
c.753+16G>T (n.753+16G>T)
c.795+16G>T (n.795+16G>T)
c.506+16G>T
c.759+16G>T (n.759+16G>T)
c.*3968+16G>T (n.*3968+16G>T)
c.479+16G>T
c.876+16G>T (n.876+16G>T)
c.498+16G>T (n.498+16G>T)
c.501+16G>T (n.501+16G>T)
c.5-26977G>T (n.5-26977G>T)
c.-43-16407G>T (n.-43-16407G>T)
c.-99+34343G>T (n.-99+34343G>T)
n.4321+16G>T
n.4362+16G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090928C=CA2260781614BRCA1c.4185+16G= (n.4185+16G=)
c.4059+16G= (n.4059+16G=)
c.4182+16G= (n.4182+16G=)
c.4107+16G= (n.4107+16G=)
c.873+16G= (n.873+16G=)
c.735+16G= (n.735+16G=)
c.3297+16G= (n.3297+16G=)
c.4062+16G= (n.4062+16G=)
c.4044+16G= (n.4044+16G=)
c.753+16G= (n.753+16G=)
c.795+16G= (n.795+16G=)
c.506+16G=
c.759+16G= (n.759+16G=)
c.*3968+16G= (n.*3968+16G=)
c.479+16G=
c.876+16G= (n.876+16G=)
c.498+16G= (n.498+16G=)
c.501+16G= (n.501+16G=)
c.5-26977G= (n.5-26977G=)
c.-43-16407G= (n.-43-16407G=)
c.-99+34343G= (n.-99+34343G=)
n.4321+16G=
n.4362+16G=
17g.43090928C>GCA16615352BRCA1c.4185+16G>C (n.4185+16G>C)
c.4059+16G>C (n.4059+16G>C)
c.4182+16G>C (n.4182+16G>C)
c.4107+16G>C (n.4107+16G>C)
c.873+16G>C (n.873+16G>C)
c.735+16G>C (n.735+16G>C)
c.3297+16G>C (n.3297+16G>C)
c.4062+16G>C (n.4062+16G>C)
c.4044+16G>C (n.4044+16G>C)
c.753+16G>C (n.753+16G>C)
c.795+16G>C (n.795+16G>C)
c.506+16G>C
c.759+16G>C (n.759+16G>C)
c.*3968+16G>C (n.*3968+16G>C)
c.479+16G>C
c.876+16G>C (n.876+16G>C)
c.498+16G>C (n.498+16G>C)
c.501+16G>C (n.501+16G>C)
c.5-26977G>C (n.5-26977G>C)
c.-43-16407G>C (n.-43-16407G>C)
c.-99+34343G>C (n.-99+34343G>C)
n.4321+16G>C
n.4362+16G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090928C>TCA658798853BRCA1c.4185+16G>A (n.4185+16G>A)
c.4059+16G>A (n.4059+16G>A)
c.4182+16G>A (n.4182+16G>A)
c.4107+16G>A (n.4107+16G>A)
c.873+16G>A (n.873+16G>A)
c.735+16G>A (n.735+16G>A)
c.3297+16G>A (n.3297+16G>A)
c.4062+16G>A (n.4062+16G>A)
c.4044+16G>A (n.4044+16G>A)
c.753+16G>A (n.753+16G>A)
c.795+16G>A (n.795+16G>A)
c.506+16G>A
c.759+16G>A (n.759+16G>A)
c.*3968+16G>A (n.*3968+16G>A)
c.479+16G>A
c.876+16G>A (n.876+16G>A)
c.498+16G>A (n.498+16G>A)
c.501+16G>A (n.501+16G>A)
c.5-26977G>A (n.5-26977G>A)
c.-43-16407G>A (n.-43-16407G>A)
c.-99+34343G>A (n.-99+34343G>A)
n.4321+16G>A
n.4362+16G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090929A=CA2260781615BRCA1c.4185+15T= (n.4185+15T=)
c.4059+15T= (n.4059+15T=)
c.4182+15T= (n.4182+15T=)
c.4107+15T= (n.4107+15T=)
c.873+15T= (n.873+15T=)
c.735+15T= (n.735+15T=)
c.3297+15T= (n.3297+15T=)
c.4062+15T= (n.4062+15T=)
c.4044+15T= (n.4044+15T=)
c.753+15T= (n.753+15T=)
c.795+15T= (n.795+15T=)
c.506+15T=
c.759+15T= (n.759+15T=)
c.*3968+15T= (n.*3968+15T=)
c.479+15T=
c.876+15T= (n.876+15T=)
c.498+15T= (n.498+15T=)
c.501+15T= (n.501+15T=)
c.5-26978T= (n.5-26978T=)
c.-43-16408T= (n.-43-16408T=)
c.-99+34342T= (n.-99+34342T=)
n.4321+15T=
n.4362+15T=
17g.43090929A>GCA626075645BRCA1c.4185+15T>C (n.4185+15T>C)
c.4059+15T>C (n.4059+15T>C)
c.4182+15T>C (n.4182+15T>C)
c.4107+15T>C (n.4107+15T>C)
c.873+15T>C (n.873+15T>C)
c.735+15T>C (n.735+15T>C)
c.3297+15T>C (n.3297+15T>C)
c.4062+15T>C (n.4062+15T>C)
c.4044+15T>C (n.4044+15T>C)
c.753+15T>C (n.753+15T>C)
c.795+15T>C (n.795+15T>C)
c.506+15T>C
c.759+15T>C (n.759+15T>C)
c.*3968+15T>C (n.*3968+15T>C)
c.479+15T>C
c.876+15T>C (n.876+15T>C)
c.498+15T>C (n.498+15T>C)
c.501+15T>C (n.501+15T>C)
c.5-26978T>C (n.5-26978T>C)
c.-43-16408T>C (n.-43-16408T>C)
c.-99+34342T>C (n.-99+34342T>C)
n.4321+15T>C
n.4362+15T>C
 dbSNP gnomAD v2 gnomAD v4
17g.43090930C=CA2260781616BRCA1c.4185+14G= (n.4185+14G=)
c.4059+14G= (n.4059+14G=)
c.4182+14G= (n.4182+14G=)
c.4107+14G= (n.4107+14G=)
c.873+14G= (n.873+14G=)
c.735+14G= (n.735+14G=)
c.3297+14G= (n.3297+14G=)
c.4062+14G= (n.4062+14G=)
c.4044+14G= (n.4044+14G=)
c.753+14G= (n.753+14G=)
c.795+14G= (n.795+14G=)
c.506+14G=
c.759+14G= (n.759+14G=)
c.*3968+14G= (n.*3968+14G=)
c.479+14G=
c.876+14G= (n.876+14G=)
c.498+14G= (n.498+14G=)
c.501+14G= (n.501+14G=)
c.5-26979G= (n.5-26979G=)
c.-43-16409G= (n.-43-16409G=)
c.-99+34341G= (n.-99+34341G=)
n.4321+14G=
n.4362+14G=
17g.43090930C>GCA002682BRCA1c.4185+14G>C (n.4185+14G>C)
c.4059+14G>C (n.4059+14G>C)
c.4182+14G>C (n.4182+14G>C)
c.4107+14G>C (n.4107+14G>C)
c.873+14G>C (n.873+14G>C)
c.735+14G>C (n.735+14G>C)
c.3297+14G>C (n.3297+14G>C)
c.4062+14G>C (n.4062+14G>C)
c.4044+14G>C (n.4044+14G>C)
c.753+14G>C (n.753+14G>C)
c.795+14G>C (n.795+14G>C)
c.506+14G>C
c.759+14G>C (n.759+14G>C)
c.*3968+14G>C (n.*3968+14G>C)
c.479+14G>C
c.876+14G>C (n.876+14G>C)
c.498+14G>C (n.498+14G>C)
c.501+14G>C (n.501+14G>C)
c.5-26979G>C (n.5-26979G>C)
c.-43-16409G>C (n.-43-16409G>C)
c.-99+34341G>C (n.-99+34341G>C)
n.4321+14G>C
n.4362+14G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090930C>TCA626075647BRCA1c.4185+14G>A (n.4185+14G>A)
c.4059+14G>A (n.4059+14G>A)
c.4182+14G>A (n.4182+14G>A)
c.4107+14G>A (n.4107+14G>A)
c.873+14G>A (n.873+14G>A)
c.735+14G>A (n.735+14G>A)
c.3297+14G>A (n.3297+14G>A)
c.4062+14G>A (n.4062+14G>A)
c.4044+14G>A (n.4044+14G>A)
c.753+14G>A (n.753+14G>A)
c.795+14G>A (n.795+14G>A)
c.506+14G>A
c.759+14G>A (n.759+14G>A)
c.*3968+14G>A (n.*3968+14G>A)
c.479+14G>A
c.876+14G>A (n.876+14G>A)
c.498+14G>A (n.498+14G>A)
c.501+14G>A (n.501+14G>A)
c.5-26979G>A (n.5-26979G>A)
c.-43-16409G>A (n.-43-16409G>A)
c.-99+34341G>A (n.-99+34341G>A)
n.4321+14G>A
n.4362+14G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090931A>CCA2733921997BRCA1c.4185+13T>G (n.4185+13T>G)
c.4059+13T>G (n.4059+13T>G)
c.4182+13T>G (n.4182+13T>G)
c.4107+13T>G (n.4107+13T>G)
c.873+13T>G (n.873+13T>G)
c.735+13T>G (n.735+13T>G)
c.3297+13T>G (n.3297+13T>G)
c.4062+13T>G (n.4062+13T>G)
c.4044+13T>G (n.4044+13T>G)
c.753+13T>G (n.753+13T>G)
c.795+13T>G (n.795+13T>G)
c.506+13T>G
c.759+13T>G (n.759+13T>G)
c.*3968+13T>G (n.*3968+13T>G)
c.479+13T>G
c.876+13T>G (n.876+13T>G)
c.498+13T>G (n.498+13T>G)
c.501+13T>G (n.501+13T>G)
c.5-26980T>G (n.5-26980T>G)
c.-43-16410T>G (n.-43-16410T>G)
c.-99+34340T>G (n.-99+34340T>G)
n.4321+13T>G
n.4362+13T>G
 dbSNP
17g.43090931A>GCA2638063822BRCA1c.4185+13T>C (n.4185+13T>C)
c.4059+13T>C (n.4059+13T>C)
c.4182+13T>C (n.4182+13T>C)
c.4107+13T>C (n.4107+13T>C)
c.873+13T>C (n.873+13T>C)
c.735+13T>C (n.735+13T>C)
c.3297+13T>C (n.3297+13T>C)
c.4062+13T>C (n.4062+13T>C)
c.4044+13T>C (n.4044+13T>C)
c.753+13T>C (n.753+13T>C)
c.795+13T>C (n.795+13T>C)
c.506+13T>C
c.759+13T>C (n.759+13T>C)
c.*3968+13T>C (n.*3968+13T>C)
c.479+13T>C
c.876+13T>C (n.876+13T>C)
c.498+13T>C (n.498+13T>C)
c.501+13T>C (n.501+13T>C)
c.5-26980T>C (n.5-26980T>C)
c.-43-16410T>C (n.-43-16410T>C)
c.-99+34340T>C (n.-99+34340T>C)
n.4321+13T>C
n.4362+13T>C
 gnomAD v4
17g.43090931A>TCA2733922021BRCA1c.4185+13T>A (n.4185+13T>A)
c.4059+13T>A (n.4059+13T>A)
c.4182+13T>A (n.4182+13T>A)
c.4107+13T>A (n.4107+13T>A)
c.873+13T>A (n.873+13T>A)
c.735+13T>A (n.735+13T>A)
c.3297+13T>A (n.3297+13T>A)
c.4062+13T>A (n.4062+13T>A)
c.4044+13T>A (n.4044+13T>A)
c.753+13T>A (n.753+13T>A)
c.795+13T>A (n.795+13T>A)
c.506+13T>A
c.759+13T>A (n.759+13T>A)
c.*3968+13T>A (n.*3968+13T>A)
c.479+13T>A
c.876+13T>A (n.876+13T>A)
c.498+13T>A (n.498+13T>A)
c.501+13T>A (n.501+13T>A)
c.5-26980T>A (n.5-26980T>A)
c.-43-16410T>A (n.-43-16410T>A)
c.-99+34340T>A (n.-99+34340T>A)
n.4321+13T>A
n.4362+13T>A
 dbSNP
17g.43090932C>ACA772185116BRCA1c.4185+12G>T (n.4185+12G>T)
c.4059+12G>T (n.4059+12G>T)
c.4182+12G>T (n.4182+12G>T)
c.4107+12G>T (n.4107+12G>T)
c.873+12G>T (n.873+12G>T)
c.735+12G>T (n.735+12G>T)
c.3297+12G>T (n.3297+12G>T)
c.4062+12G>T (n.4062+12G>T)
c.4044+12G>T (n.4044+12G>T)
c.753+12G>T (n.753+12G>T)
c.795+12G>T (n.795+12G>T)
c.506+12G>T
c.759+12G>T (n.759+12G>T)
c.*3968+12G>T (n.*3968+12G>T)
c.479+12G>T
c.876+12G>T (n.876+12G>T)
c.498+12G>T (n.498+12G>T)
c.501+12G>T (n.501+12G>T)
c.5-26981G>T (n.5-26981G>T)
c.-43-16411G>T (n.-43-16411G>T)
c.-99+34339G>T (n.-99+34339G>T)
n.4321+12G>T
n.4362+12G>T
 ClinVar dbSNP gnomAD v4
17g.43090932C=CA2260781617BRCA1c.4185+12G= (n.4185+12G=)
c.4059+12G= (n.4059+12G=)
c.4182+12G= (n.4182+12G=)
c.4107+12G= (n.4107+12G=)
c.873+12G= (n.873+12G=)
c.735+12G= (n.735+12G=)
c.3297+12G= (n.3297+12G=)
c.4062+12G= (n.4062+12G=)
c.4044+12G= (n.4044+12G=)
c.753+12G= (n.753+12G=)
c.795+12G= (n.795+12G=)
c.506+12G=
c.759+12G= (n.759+12G=)
c.*3968+12G= (n.*3968+12G=)
c.479+12G=
c.876+12G= (n.876+12G=)
c.498+12G= (n.498+12G=)
c.501+12G= (n.501+12G=)
c.5-26981G= (n.5-26981G=)
c.-43-16411G= (n.-43-16411G=)
c.-99+34339G= (n.-99+34339G=)
n.4321+12G=
n.4362+12G=
17g.43090932C>GCA2733674180BRCA1c.4185+12G>C (n.4185+12G>C)
c.4059+12G>C (n.4059+12G>C)
c.4182+12G>C (n.4182+12G>C)
c.4107+12G>C (n.4107+12G>C)
c.873+12G>C (n.873+12G>C)
c.735+12G>C (n.735+12G>C)
c.3297+12G>C (n.3297+12G>C)
c.4062+12G>C (n.4062+12G>C)
c.4044+12G>C (n.4044+12G>C)
c.753+12G>C (n.753+12G>C)
c.795+12G>C (n.795+12G>C)
c.506+12G>C
c.759+12G>C (n.759+12G>C)
c.*3968+12G>C (n.*3968+12G>C)
c.479+12G>C
c.876+12G>C (n.876+12G>C)
c.498+12G>C (n.498+12G>C)
c.501+12G>C (n.501+12G>C)
c.5-26981G>C (n.5-26981G>C)
c.-43-16411G>C (n.-43-16411G>C)
c.-99+34339G>C (n.-99+34339G>C)
n.4321+12G>C
n.4362+12G>C
 dbSNP
17g.43090932C>TCA658798854BRCA1c.4185+12G>A (n.4185+12G>A)
c.4059+12G>A (n.4059+12G>A)
c.4182+12G>A (n.4182+12G>A)
c.4107+12G>A (n.4107+12G>A)
c.873+12G>A (n.873+12G>A)
c.735+12G>A (n.735+12G>A)
c.3297+12G>A (n.3297+12G>A)
c.4062+12G>A (n.4062+12G>A)
c.4044+12G>A (n.4044+12G>A)
c.753+12G>A (n.753+12G>A)
c.795+12G>A (n.795+12G>A)
c.506+12G>A
c.759+12G>A (n.759+12G>A)
c.*3968+12G>A (n.*3968+12G>A)
c.479+12G>A
c.876+12G>A (n.876+12G>A)
c.498+12G>A (n.498+12G>A)
c.501+12G>A (n.501+12G>A)
c.5-26981G>A (n.5-26981G>A)
c.-43-16411G>A (n.-43-16411G>A)
c.-99+34339G>A (n.-99+34339G>A)
n.4321+12G>A
n.4362+12G>A
 ClinVar dbSNP gnomAD v4
17g.43090933A>GCA2499224434BRCA1c.4185+11T>C (n.4185+11T>C)
c.4059+11T>C (n.4059+11T>C)
c.4182+11T>C (n.4182+11T>C)
c.4107+11T>C (n.4107+11T>C)
c.873+11T>C (n.873+11T>C)
c.735+11T>C (n.735+11T>C)
c.3297+11T>C (n.3297+11T>C)
c.4062+11T>C (n.4062+11T>C)
c.4044+11T>C (n.4044+11T>C)
c.753+11T>C (n.753+11T>C)
c.795+11T>C (n.795+11T>C)
c.506+11T>C
c.759+11T>C (n.759+11T>C)
c.*3968+11T>C (n.*3968+11T>C)
c.479+11T>C
c.876+11T>C (n.876+11T>C)
c.498+11T>C (n.498+11T>C)
c.501+11T>C (n.501+11T>C)
c.5-26982T>C (n.5-26982T>C)
c.-43-16412T>C (n.-43-16412T>C)
c.-99+34338T>C (n.-99+34338T>C)
n.4321+11T>C
n.4362+11T>C
 ClinVar dbSNP gnomAD v4
17g.43090933A>TCA2733922155BRCA1c.4185+11T>A (n.4185+11T>A)
c.4059+11T>A (n.4059+11T>A)
c.4182+11T>A (n.4182+11T>A)
c.4107+11T>A (n.4107+11T>A)
c.873+11T>A (n.873+11T>A)
c.735+11T>A (n.735+11T>A)
c.3297+11T>A (n.3297+11T>A)
c.4062+11T>A (n.4062+11T>A)
c.4044+11T>A (n.4044+11T>A)
c.753+11T>A (n.753+11T>A)
c.795+11T>A (n.795+11T>A)
c.506+11T>A
c.759+11T>A (n.759+11T>A)
c.*3968+11T>A (n.*3968+11T>A)
c.479+11T>A
c.876+11T>A (n.876+11T>A)
c.498+11T>A (n.498+11T>A)
c.501+11T>A (n.501+11T>A)
c.5-26982T>A (n.5-26982T>A)
c.-43-16412T>A (n.-43-16412T>A)
c.-99+34338T>A (n.-99+34338T>A)
n.4321+11T>A
n.4362+11T>A
 dbSNP
17g.43090934C>ACA2697559873BRCA1c.4185+10G>T (n.4185+10G>T)
c.4059+10G>T (n.4059+10G>T)
c.4182+10G>T (n.4182+10G>T)
c.4107+10G>T (n.4107+10G>T)
c.873+10G>T (n.873+10G>T)
c.735+10G>T (n.735+10G>T)
c.3297+10G>T (n.3297+10G>T)
c.4062+10G>T (n.4062+10G>T)
c.4044+10G>T (n.4044+10G>T)
c.753+10G>T (n.753+10G>T)
c.795+10G>T (n.795+10G>T)
c.506+10G>T
c.759+10G>T (n.759+10G>T)
c.*3968+10G>T (n.*3968+10G>T)
c.479+10G>T
c.876+10G>T (n.876+10G>T)
c.498+10G>T (n.498+10G>T)
c.501+10G>T (n.501+10G>T)
c.5-26983G>T (n.5-26983G>T)
c.-43-16413G>T (n.-43-16413G>T)
c.-99+34337G>T (n.-99+34337G>T)
n.4321+10G>T
n.4362+10G>T
 ClinVar
17g.43090934C=CA2260781618BRCA1c.4185+10G= (n.4185+10G=)
c.4059+10G= (n.4059+10G=)
c.4182+10G= (n.4182+10G=)
c.4107+10G= (n.4107+10G=)
c.873+10G= (n.873+10G=)
c.735+10G= (n.735+10G=)
c.3297+10G= (n.3297+10G=)
c.4062+10G= (n.4062+10G=)
c.4044+10G= (n.4044+10G=)
c.753+10G= (n.753+10G=)
c.795+10G= (n.795+10G=)
c.506+10G=
c.759+10G= (n.759+10G=)
c.*3968+10G= (n.*3968+10G=)
c.479+10G=
c.876+10G= (n.876+10G=)
c.498+10G= (n.498+10G=)
c.501+10G= (n.501+10G=)
c.5-26983G= (n.5-26983G=)
c.-43-16413G= (n.-43-16413G=)
c.-99+34337G= (n.-99+34337G=)
n.4321+10G=
n.4362+10G=
17g.43090934C>GCA002680BRCA1c.4185+10G>C (n.4185+10G>C)
c.4059+10G>C (n.4059+10G>C)
c.4182+10G>C (n.4182+10G>C)
c.4107+10G>C (n.4107+10G>C)
c.873+10G>C (n.873+10G>C)
c.735+10G>C (n.735+10G>C)
c.3297+10G>C (n.3297+10G>C)
c.4062+10G>C (n.4062+10G>C)
c.4044+10G>C (n.4044+10G>C)
c.753+10G>C (n.753+10G>C)
c.795+10G>C (n.795+10G>C)
c.506+10G>C
c.759+10G>C (n.759+10G>C)
c.*3968+10G>C (n.*3968+10G>C)
c.479+10G>C
c.876+10G>C (n.876+10G>C)
c.498+10G>C (n.498+10G>C)
c.501+10G>C (n.501+10G>C)
c.5-26983G>C (n.5-26983G>C)
c.-43-16413G>C (n.-43-16413G>C)
c.-99+34337G>C (n.-99+34337G>C)
n.4321+10G>C
n.4362+10G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090934C>TCA002679BRCA1c.4185+10G>A (n.4185+10G>A)
c.4059+10G>A (n.4059+10G>A)
c.4182+10G>A (n.4182+10G>A)
c.4107+10G>A (n.4107+10G>A)
c.873+10G>A (n.873+10G>A)
c.735+10G>A (n.735+10G>A)
c.3297+10G>A (n.3297+10G>A)
c.4062+10G>A (n.4062+10G>A)
c.4044+10G>A (n.4044+10G>A)
c.753+10G>A (n.753+10G>A)
c.795+10G>A (n.795+10G>A)
c.506+10G>A
c.759+10G>A (n.759+10G>A)
c.*3968+10G>A (n.*3968+10G>A)
c.479+10G>A
c.876+10G>A (n.876+10G>A)
c.498+10G>A (n.498+10G>A)
c.501+10G>A (n.501+10G>A)
c.5-26983G>A (n.5-26983G>A)
c.-43-16413G>A (n.-43-16413G>A)
c.-99+34337G>A (n.-99+34337G>A)
n.4321+10G>A
n.4362+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090934_43090935insAACA913187764BRCA1c.4185+9_4185+10insTT (n.4185+9_4185+10insTT)
c.4059+9_4059+10insTT (n.4059+9_4059+10insTT)
c.4182+9_4182+10insTT (n.4182+9_4182+10insTT)
c.4107+9_4107+10insTT (n.4107+9_4107+10insTT)
c.873+9_873+10insTT (n.873+9_873+10insTT)
c.735+9_735+10insTT (n.735+9_735+10insTT)
c.3297+9_3297+10insTT (n.3297+9_3297+10insTT)
c.4062+9_4062+10insTT (n.4062+9_4062+10insTT)
c.4044+9_4044+10insTT (n.4044+9_4044+10insTT)
c.753+9_753+10insTT (n.753+9_753+10insTT)
c.795+9_795+10insTT (n.795+9_795+10insTT)
c.506+9_506+10insTT
c.759+9_759+10insTT (n.759+9_759+10insTT)
c.*3968+9_*3968+10insTT (n.*3968+9_*3968+10insTT)
c.479+9_479+10insTT
c.876+9_876+10insTT (n.876+9_876+10insTT)
c.498+9_498+10insTT (n.498+9_498+10insTT)
c.501+9_501+10insTT (n.501+9_501+10insTT)
c.5-26984_5-26983insTT (n.5-26984_5-26983insTT)
c.-43-16414_-43-16413insTT (n.-43-16414_-43-16413insTT)
c.-99+34336_-99+34337insTT (n.-99+34336_-99+34337insTT)
n.4321+9_4321+10insTT
n.4362+9_4362+10insTT
 ClinVar dbSNP
17g.43090935G>ACA002691BRCA1c.4185+9C>T (n.4185+9C>T)
c.4059+9C>T (n.4059+9C>T)
c.4182+9C>T (n.4182+9C>T)
c.4107+9C>T (n.4107+9C>T)
c.873+9C>T (n.873+9C>T)
c.735+9C>T (n.735+9C>T)
c.3297+9C>T (n.3297+9C>T)
c.4062+9C>T (n.4062+9C>T)
c.4044+9C>T (n.4044+9C>T)
c.753+9C>T (n.753+9C>T)
c.795+9C>T (n.795+9C>T)
c.506+9C>T
c.759+9C>T (n.759+9C>T)
c.*3968+9C>T (n.*3968+9C>T)
c.479+9C>T
c.876+9C>T (n.876+9C>T)
c.498+9C>T (n.498+9C>T)
c.501+9C>T (n.501+9C>T)
c.5-26984C>T (n.5-26984C>T)
c.-43-16414C>T (n.-43-16414C>T)
c.-99+34336C>T (n.-99+34336C>T)
n.4321+9C>T
n.4362+9C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090935G>CCA626075656BRCA1c.4185+9C>G (n.4185+9C>G)
c.4059+9C>G (n.4059+9C>G)
c.4182+9C>G (n.4182+9C>G)
c.4107+9C>G (n.4107+9C>G)
c.873+9C>G (n.873+9C>G)
c.735+9C>G (n.735+9C>G)
c.3297+9C>G (n.3297+9C>G)
c.4062+9C>G (n.4062+9C>G)
c.4044+9C>G (n.4044+9C>G)
c.753+9C>G (n.753+9C>G)
c.795+9C>G (n.795+9C>G)
c.506+9C>G
c.759+9C>G (n.759+9C>G)
c.*3968+9C>G (n.*3968+9C>G)
c.479+9C>G
c.876+9C>G (n.876+9C>G)
c.498+9C>G (n.498+9C>G)
c.501+9C>G (n.501+9C>G)
c.5-26984C>G (n.5-26984C>G)
c.-43-16414C>G (n.-43-16414C>G)
c.-99+34336C>G (n.-99+34336C>G)
n.4321+9C>G
n.4362+9C>G
 dbSNP gnomAD v2
17g.43090935G=CA2260781619BRCA1c.4185+9C= (n.4185+9C=)
c.4059+9C= (n.4059+9C=)
c.4182+9C= (n.4182+9C=)
c.4107+9C= (n.4107+9C=)
c.873+9C= (n.873+9C=)
c.735+9C= (n.735+9C=)
c.3297+9C= (n.3297+9C=)
c.4062+9C= (n.4062+9C=)
c.4044+9C= (n.4044+9C=)
c.753+9C= (n.753+9C=)
c.795+9C= (n.795+9C=)
c.506+9C=
c.759+9C= (n.759+9C=)
c.*3968+9C= (n.*3968+9C=)
c.479+9C=
c.876+9C= (n.876+9C=)
c.498+9C= (n.498+9C=)
c.501+9C= (n.501+9C=)
c.5-26984C= (n.5-26984C=)
c.-43-16414C= (n.-43-16414C=)
c.-99+34336C= (n.-99+34336C=)
n.4321+9C=
n.4362+9C=
17g.43090935G>TCA658825024BRCA1c.4185+9C>A (n.4185+9C>A)
c.4059+9C>A (n.4059+9C>A)
c.4182+9C>A (n.4182+9C>A)
c.4107+9C>A (n.4107+9C>A)
c.873+9C>A (n.873+9C>A)
c.735+9C>A (n.735+9C>A)
c.3297+9C>A (n.3297+9C>A)
c.4062+9C>A (n.4062+9C>A)
c.4044+9C>A (n.4044+9C>A)
c.753+9C>A (n.753+9C>A)
c.795+9C>A (n.795+9C>A)
c.506+9C>A
c.759+9C>A (n.759+9C>A)
c.*3968+9C>A (n.*3968+9C>A)
c.479+9C>A
c.876+9C>A (n.876+9C>A)
c.498+9C>A (n.498+9C>A)
c.501+9C>A (n.501+9C>A)
c.5-26984C>A (n.5-26984C>A)
c.-43-16414C>A (n.-43-16414C>A)
c.-99+34336C>A (n.-99+34336C>A)
n.4321+9C>A
n.4362+9C>A
 ClinVar dbSNP gnomAD v4
17g.43090936delCA2695225925BRCA1c.4185+8del (n.4185+8del)
c.4059+8del (n.4059+8del)
c.4182+8del (n.4182+8del)
c.4107+8del (n.4107+8del)
c.873+8del (n.873+8del)
c.735+8del (n.735+8del)
c.3297+8del (n.3297+8del)
c.4062+8del (n.4062+8del)
c.4044+8del (n.4044+8del)
c.753+8del (n.753+8del)
c.795+8del (n.795+8del)
c.506+8del
c.759+8del (n.759+8del)
c.*3968+8del (n.*3968+8del)
c.479+8del
c.876+8del (n.876+8del)
c.498+8del (n.498+8del)
c.501+8del (n.501+8del)
c.5-26985del (n.5-26985del)
c.-43-16415del (n.-43-16415del)
c.-99+34335del (n.-99+34335del)
n.4321+8del
n.4362+8del
17g.43090936C=CA2260781621BRCA1c.4185+8G= (n.4185+8G=)
c.4059+8G= (n.4059+8G=)
c.4182+8G= (n.4182+8G=)
c.4107+8G= (n.4107+8G=)
c.873+8G= (n.873+8G=)
c.735+8G= (n.735+8G=)
c.3297+8G= (n.3297+8G=)
c.4062+8G= (n.4062+8G=)
c.4044+8G= (n.4044+8G=)
c.753+8G= (n.753+8G=)
c.795+8G= (n.795+8G=)
c.506+8G=
c.759+8G= (n.759+8G=)
c.*3968+8G= (n.*3968+8G=)
c.479+8G=
c.876+8G= (n.876+8G=)
c.498+8G= (n.498+8G=)
c.501+8G= (n.501+8G=)
c.5-26985G= (n.5-26985G=)
c.-43-16415G= (n.-43-16415G=)
c.-99+34335G= (n.-99+34335G=)
n.4321+8G=
n.4362+8G=
17g.43090936C>GCA10586108BRCA1c.4185+8G>C (n.4185+8G>C)
c.4059+8G>C (n.4059+8G>C)
c.4182+8G>C (n.4182+8G>C)
c.4107+8G>C (n.4107+8G>C)
c.873+8G>C (n.873+8G>C)
c.735+8G>C (n.735+8G>C)
c.3297+8G>C (n.3297+8G>C)
c.4062+8G>C (n.4062+8G>C)
c.4044+8G>C (n.4044+8G>C)
c.753+8G>C (n.753+8G>C)
c.795+8G>C (n.795+8G>C)
c.506+8G>C
c.759+8G>C (n.759+8G>C)
c.*3968+8G>C (n.*3968+8G>C)
c.479+8G>C
c.876+8G>C (n.876+8G>C)
c.498+8G>C (n.498+8G>C)
c.501+8G>C (n.501+8G>C)
c.5-26985G>C (n.5-26985G>C)
c.-43-16415G>C (n.-43-16415G>C)
c.-99+34335G>C (n.-99+34335G>C)
n.4321+8G>C
n.4362+8G>C
 ClinVar dbSNP
17g.43090936C>TCA16608440BRCA1c.4185+8G>A (n.4185+8G>A)
c.4059+8G>A (n.4059+8G>A)
c.4182+8G>A (n.4182+8G>A)
c.4107+8G>A (n.4107+8G>A)
c.873+8G>A (n.873+8G>A)
c.735+8G>A (n.735+8G>A)
c.3297+8G>A (n.3297+8G>A)
c.4062+8G>A (n.4062+8G>A)
c.4044+8G>A (n.4044+8G>A)
c.753+8G>A (n.753+8G>A)
c.795+8G>A (n.795+8G>A)
c.506+8G>A
c.759+8G>A (n.759+8G>A)
c.*3968+8G>A (n.*3968+8G>A)
c.479+8G>A
c.876+8G>A (n.876+8G>A)
c.498+8G>A (n.498+8G>A)
c.501+8G>A (n.501+8G>A)
c.5-26985G>A (n.5-26985G>A)
c.-43-16415G>A (n.-43-16415G>A)
c.-99+34335G>A (n.-99+34335G>A)
n.4321+8G>A
n.4362+8G>A
 ClinVar dbSNP
17g.43090936_43090939delinsCTTTCA2260781620BRCA1c.4185+5_4185+8delinsAAAG (n.4185+5_4185+8delinsAAAG)
c.4059+5_4059+8delinsAAAG (n.4059+5_4059+8delinsAAAG)
c.4182+5_4182+8delinsAAAG (n.4182+5_4182+8delinsAAAG)
c.4107+5_4107+8delinsAAAG (n.4107+5_4107+8delinsAAAG)
c.873+5_873+8delinsAAAG (n.873+5_873+8delinsAAAG)
c.735+5_735+8delinsAAAG (n.735+5_735+8delinsAAAG)
c.3297+5_3297+8delinsAAAG (n.3297+5_3297+8delinsAAAG)
c.4062+5_4062+8delinsAAAG (n.4062+5_4062+8delinsAAAG)
c.4044+5_4044+8delinsAAAG (n.4044+5_4044+8delinsAAAG)
c.753+5_753+8delinsAAAG (n.753+5_753+8delinsAAAG)
c.795+5_795+8delinsAAAG (n.795+5_795+8delinsAAAG)
c.506+5_506+8delinsAAAG
c.759+5_759+8delinsAAAG (n.759+5_759+8delinsAAAG)
c.*3968+5_*3968+8delinsAAAG (n.*3968+5_*3968+8delinsAAAG)
c.479+5_479+8delinsAAAG
c.876+5_876+8delinsAAAG (n.876+5_876+8delinsAAAG)
c.498+5_498+8delinsAAAG (n.498+5_498+8delinsAAAG)
c.501+5_501+8delinsAAAG (n.501+5_501+8delinsAAAG)
c.5-26988_5-26985delinsAAAG (n.5-26988_5-26985delinsAAAG)
c.-43-16418_-43-16415delinsAAAG (n.-43-16418_-43-16415delinsAAAG)
c.-99+34332_-99+34335delinsAAAG (n.-99+34332_-99+34335delinsAAAG)
n.4321+5_4321+8delinsAAAG
n.4362+5_4362+8delinsAAAG
17g.43090937T>ACA2733922176BRCA1c.4185+7A>T (n.4185+7A>T)
c.4059+7A>T (n.4059+7A>T)
c.4182+7A>T (n.4182+7A>T)
c.4107+7A>T (n.4107+7A>T)
c.873+7A>T (n.873+7A>T)
c.735+7A>T (n.735+7A>T)
c.3297+7A>T (n.3297+7A>T)
c.4062+7A>T (n.4062+7A>T)
c.4044+7A>T (n.4044+7A>T)
c.753+7A>T (n.753+7A>T)
c.795+7A>T (n.795+7A>T)
c.506+7A>T
c.759+7A>T (n.759+7A>T)
c.*3968+7A>T (n.*3968+7A>T)
c.479+7A>T
c.876+7A>T (n.876+7A>T)
c.498+7A>T (n.498+7A>T)
c.501+7A>T (n.501+7A>T)
c.5-26986A>T (n.5-26986A>T)
c.-43-16416A>T (n.-43-16416A>T)
c.-99+34334A>T (n.-99+34334A>T)
n.4321+7A>T
n.4362+7A>T
 dbSNP
17g.43090937T>CCA2733922177BRCA1c.4185+7A>G (n.4185+7A>G)
c.4059+7A>G (n.4059+7A>G)
c.4182+7A>G (n.4182+7A>G)
c.4107+7A>G (n.4107+7A>G)
c.873+7A>G (n.873+7A>G)
c.735+7A>G (n.735+7A>G)
c.3297+7A>G (n.3297+7A>G)
c.4062+7A>G (n.4062+7A>G)
c.4044+7A>G (n.4044+7A>G)
c.753+7A>G (n.753+7A>G)
c.795+7A>G (n.795+7A>G)
c.506+7A>G
c.759+7A>G (n.759+7A>G)
c.*3968+7A>G (n.*3968+7A>G)
c.479+7A>G
c.876+7A>G (n.876+7A>G)
c.498+7A>G (n.498+7A>G)
c.501+7A>G (n.501+7A>G)
c.5-26986A>G (n.5-26986A>G)
c.-43-16416A>G (n.-43-16416A>G)
c.-99+34334A>G (n.-99+34334A>G)
n.4321+7A>G
n.4362+7A>G
 dbSNP
17g.43090941dupCA2499224435BRCA1c.4185+7dup (n.4185+7dup)
c.4059+7dup (n.4059+7dup)
c.4182+7dup (n.4182+7dup)
c.4107+7dup (n.4107+7dup)
c.873+7dup (n.873+7dup)
c.735+7dup (n.735+7dup)
c.3297+7dup (n.3297+7dup)
c.4062+7dup (n.4062+7dup)
c.4044+7dup (n.4044+7dup)
c.753+7dup (n.753+7dup)
c.795+7dup (n.795+7dup)
c.506+7dup
c.759+7dup (n.759+7dup)
c.*3968+7dup (n.*3968+7dup)
c.479+7dup
c.876+7dup (n.876+7dup)
c.498+7dup (n.498+7dup)
c.501+7dup (n.501+7dup)
c.5-26986dup (n.5-26986dup)
c.-43-16416dup (n.-43-16416dup)
c.-99+34334dup (n.-99+34334dup)
n.4321+7dup
n.4362+7dup
 ClinVar dbSNP
17g.43090941delCA2580094028BRCA1c.4185+7del (n.4185+7del)
c.4059+7del (n.4059+7del)
c.4182+7del (n.4182+7del)
c.4107+7del (n.4107+7del)
c.873+7del (n.873+7del)
c.735+7del (n.735+7del)
c.3297+7del (n.3297+7del)
c.4062+7del (n.4062+7del)
c.4044+7del (n.4044+7del)
c.753+7del (n.753+7del)
c.795+7del (n.795+7del)
c.506+7del
c.759+7del (n.759+7del)
c.*3968+7del (n.*3968+7del)
c.479+7del
c.876+7del (n.876+7del)
c.498+7del (n.498+7del)
c.501+7del (n.501+7del)
c.5-26986del (n.5-26986del)
c.-43-16416del (n.-43-16416del)
c.-99+34334del (n.-99+34334del)
n.4321+7del
n.4362+7del
 ClinVar
17g.43090939_43090941delCA268193BRCA1c.4185+5_4185+7del (n.4185+5_4185+7del)
c.4059+5_4059+7del (n.4059+5_4059+7del)
c.4182+5_4182+7del (n.4182+5_4182+7del)
c.4107+5_4107+7del (n.4107+5_4107+7del)
c.873+5_873+7del (n.873+5_873+7del)
c.735+5_735+7del (n.735+5_735+7del)
c.3297+5_3297+7del (n.3297+5_3297+7del)
c.4062+5_4062+7del (n.4062+5_4062+7del)
c.4044+5_4044+7del (n.4044+5_4044+7del)
c.753+5_753+7del (n.753+5_753+7del)
c.795+5_795+7del (n.795+5_795+7del)
c.506+5_506+7del
c.759+5_759+7del (n.759+5_759+7del)
c.*3968+5_*3968+7del (n.*3968+5_*3968+7del)
c.479+5_479+7del
c.876+5_876+7del (n.876+5_876+7del)
c.498+5_498+7del (n.498+5_498+7del)
c.501+5_501+7del (n.501+5_501+7del)
c.5-26988_5-26986del (n.5-26988_5-26986del)
c.-43-16418_-43-16416del (n.-43-16418_-43-16416del)
c.-99+34332_-99+34334del (n.-99+34332_-99+34334del)
n.4321+5_4321+7del
n.4362+5_4362+7del
 ClinVar dbSNP
17g.43090938_43090942delCA2499224436BRCA1c.4185+2_4185+6del (n.4185+2_4185+6del)
c.4059+2_4059+6del (n.4059+2_4059+6del)
c.4182+2_4182+6del (n.4182+2_4182+6del)
c.4107+2_4107+6del (n.4107+2_4107+6del)
c.873+2_873+6del (n.873+2_873+6del)
c.735+2_735+6del (n.735+2_735+6del)
c.3297+2_3297+6del (n.3297+2_3297+6del)
c.4062+2_4062+6del (n.4062+2_4062+6del)
c.4044+2_4044+6del (n.4044+2_4044+6del)
c.753+2_753+6del (n.753+2_753+6del)
c.795+2_795+6del (n.795+2_795+6del)
c.506+2_506+6del
c.759+2_759+6del (n.759+2_759+6del)
c.*3968+2_*3968+6del (n.*3968+2_*3968+6del)
c.479+2_479+6del
c.876+2_876+6del (n.876+2_876+6del)
c.498+2_498+6del (n.498+2_498+6del)
c.501+2_501+6del (n.501+2_501+6del)
c.5-26991_5-26987del (n.5-26991_5-26987del)
c.-43-16421_-43-16417del (n.-43-16421_-43-16417del)
c.-99+34329_-99+34333del (n.-99+34329_-99+34333del)
n.4321+2_4321+6del
n.4362+2_4362+6del
 dbSNP
17g.43090939T>ACA2733647379BRCA1c.4185+5A>T (n.4185+5A>T)
c.4059+5A>T (n.4059+5A>T)
c.4182+5A>T (n.4182+5A>T)
c.4107+5A>T (n.4107+5A>T)
c.873+5A>T (n.873+5A>T)
c.735+5A>T (n.735+5A>T)
c.3297+5A>T (n.3297+5A>T)
c.4062+5A>T (n.4062+5A>T)
c.4044+5A>T (n.4044+5A>T)
c.753+5A>T (n.753+5A>T)
c.795+5A>T (n.795+5A>T)
c.506+5A>T
c.759+5A>T (n.759+5A>T)
c.*3968+5A>T (n.*3968+5A>T)
c.479+5A>T
c.876+5A>T (n.876+5A>T)
c.498+5A>T (n.498+5A>T)
c.501+5A>T (n.501+5A>T)
c.5-26988A>T (n.5-26988A>T)
c.-43-16418A>T (n.-43-16418A>T)
c.-99+34332A>T (n.-99+34332A>T)
n.4321+5A>T
n.4362+5A>T
 dbSNP
17g.43090939T>CCA059589BRCA1c.4185+5A>G (n.4185+5A>G)
c.4059+5A>G (n.4059+5A>G)
c.4182+5A>G (n.4182+5A>G)
c.4107+5A>G (n.4107+5A>G)
c.873+5A>G (n.873+5A>G)
c.735+5A>G (n.735+5A>G)
c.3297+5A>G (n.3297+5A>G)
c.4062+5A>G (n.4062+5A>G)
c.4044+5A>G (n.4044+5A>G)
c.753+5A>G (n.753+5A>G)
c.795+5A>G (n.795+5A>G)
c.506+5A>G
c.759+5A>G (n.759+5A>G)
c.*3968+5A>G (n.*3968+5A>G)
c.479+5A>G
c.876+5A>G (n.876+5A>G)
c.498+5A>G (n.498+5A>G)
c.501+5A>G (n.501+5A>G)
c.5-26988A>G (n.5-26988A>G)
c.-43-16418A>G (n.-43-16418A>G)
c.-99+34332A>G (n.-99+34332A>G)
n.4321+5A>G
n.4362+5A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090939T=CA2260781622BRCA1c.4185+5A= (n.4185+5A=)
c.4059+5A= (n.4059+5A=)
c.4182+5A= (n.4182+5A=)
c.4107+5A= (n.4107+5A=)
c.873+5A= (n.873+5A=)
c.735+5A= (n.735+5A=)
c.3297+5A= (n.3297+5A=)
c.4062+5A= (n.4062+5A=)
c.4044+5A= (n.4044+5A=)
c.753+5A= (n.753+5A=)
c.795+5A= (n.795+5A=)
c.506+5A=
c.759+5A= (n.759+5A=)
c.*3968+5A= (n.*3968+5A=)
c.479+5A=
c.876+5A= (n.876+5A=)
c.498+5A= (n.498+5A=)
c.501+5A= (n.501+5A=)
c.5-26988A= (n.5-26988A=)
c.-43-16418A= (n.-43-16418A=)
c.-99+34332A= (n.-99+34332A=)
n.4321+5A=
n.4362+5A=
17g.43090940T>CCA2733922384BRCA1c.4185+4A>G (n.4185+4A>G)
c.4059+4A>G (n.4059+4A>G)
c.4182+4A>G (n.4182+4A>G)
c.4107+4A>G (n.4107+4A>G)
c.873+4A>G (n.873+4A>G)
c.735+4A>G (n.735+4A>G)
c.3297+4A>G (n.3297+4A>G)
c.4062+4A>G (n.4062+4A>G)
c.4044+4A>G (n.4044+4A>G)
c.753+4A>G (n.753+4A>G)
c.795+4A>G (n.795+4A>G)
c.506+4A>G
c.759+4A>G (n.759+4A>G)
c.*3968+4A>G (n.*3968+4A>G)
c.479+4A>G
c.876+4A>G (n.876+4A>G)
c.498+4A>G (n.498+4A>G)
c.501+4A>G (n.501+4A>G)
c.5-26989A>G (n.5-26989A>G)
c.-43-16419A>G (n.-43-16419A>G)
c.-99+34331A>G (n.-99+34331A>G)
n.4321+4A>G
n.4362+4A>G
 dbSNP
17g.43090940_43090944delinsTTACCCA2260781623BRCA1c.4185_4185+4delinsGGTAA
c.4059_4059+4delinsGGTAA
c.4182_4182+4delinsGGTAA
c.4107_4107+4delinsGGTAA
c.873_873+4delinsGGTAA
c.735_735+4delinsGGTAA
c.3297_3297+4delinsGGTAA
c.4062_4062+4delinsGGTAA
c.4044_4044+4delinsGGTAA
c.753_753+4delinsGGTAA
c.795_795+4delinsGGTAA
c.506_506+4delinsGGTAA
c.759_759+4delinsGGTAA
c.*3968_*3968+4delinsGGTAA
c.479_479+4delinsGGTAA
c.876_876+4delinsGGTAA
c.498_498+4delinsGGTAA
c.501_501+4delinsGGTAA
c.5-26993_5-26989delinsGGTAA (n.5-26993_5-26989delinsGGTAA)
c.-43-16423_-43-16419delinsGGTAA (n.-43-16423_-43-16419delinsGGTAA)
c.-99+34327_-99+34331delinsGGTAA (n.-99+34327_-99+34331delinsGGTAA)
n.4321_4321+4delinsGGTAA
n.4362_4362+4delinsGGTAA
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.43090941T>ACA2733643966BRCA1c.4185+3A>T (n.4185+3A>T)
c.4059+3A>T (n.4059+3A>T)
c.4182+3A>T (n.4182+3A>T)
c.4107+3A>T (n.4107+3A>T)
c.873+3A>T (n.873+3A>T)
c.735+3A>T (n.735+3A>T)
c.3297+3A>T (n.3297+3A>T)
c.4062+3A>T (n.4062+3A>T)
c.4044+3A>T (n.4044+3A>T)
c.753+3A>T (n.753+3A>T)
c.795+3A>T (n.795+3A>T)
c.506+3A>T
c.759+3A>T (n.759+3A>T)
c.*3968+3A>T (n.*3968+3A>T)
c.479+3A>T
c.876+3A>T (n.876+3A>T)
c.498+3A>T (n.498+3A>T)
c.501+3A>T (n.501+3A>T)
c.5-26990A>T (n.5-26990A>T)
c.-43-16420A>T (n.-43-16420A>T)
c.-99+34330A>T (n.-99+34330A>T)
n.4321+3A>T
n.4362+3A>T
 dbSNP
17g.43090941T>CCA002690BRCA1c.4185+3A>G (n.4185+3A>G)
c.4059+3A>G (n.4059+3A>G)
c.4182+3A>G (n.4182+3A>G)
c.4107+3A>G (n.4107+3A>G)
c.873+3A>G (n.873+3A>G)
c.735+3A>G (n.735+3A>G)
c.3297+3A>G (n.3297+3A>G)
c.4062+3A>G (n.4062+3A>G)
c.4044+3A>G (n.4044+3A>G)
c.753+3A>G (n.753+3A>G)
c.795+3A>G (n.795+3A>G)
c.506+3A>G
c.759+3A>G (n.759+3A>G)
c.*3968+3A>G (n.*3968+3A>G)
c.479+3A>G
c.876+3A>G (n.876+3A>G)
c.498+3A>G (n.498+3A>G)
c.501+3A>G (n.501+3A>G)
c.5-26990A>G (n.5-26990A>G)
c.-43-16420A>G (n.-43-16420A>G)
c.-99+34330A>G (n.-99+34330A>G)
n.4321+3A>G
n.4362+3A>G
 ClinVar dbSNP
17g.43090941T=CA2260781624BRCA1c.4185+3A= (n.4185+3A=)
c.4059+3A= (n.4059+3A=)
c.4182+3A= (n.4182+3A=)
c.4107+3A= (n.4107+3A=)
c.873+3A= (n.873+3A=)
c.735+3A= (n.735+3A=)
c.3297+3A= (n.3297+3A=)
c.4062+3A= (n.4062+3A=)
c.4044+3A= (n.4044+3A=)
c.753+3A= (n.753+3A=)
c.795+3A= (n.795+3A=)
c.506+3A=
c.759+3A= (n.759+3A=)
c.*3968+3A= (n.*3968+3A=)
c.479+3A=
c.876+3A= (n.876+3A=)
c.498+3A= (n.498+3A=)
c.501+3A= (n.501+3A=)
c.5-26990A= (n.5-26990A=)
c.-43-16420A= (n.-43-16420A=)
c.-99+34330A= (n.-99+34330A=)
n.4321+3A=
n.4362+3A=
17g.43090941_43090942delinsTACA2260781625BRCA1c.4185+2_4185+3delinsTA (n.4185+2_4185+3delinsTA)
c.4059+2_4059+3delinsTA (n.4059+2_4059+3delinsTA)
c.4182+2_4182+3delinsTA (n.4182+2_4182+3delinsTA)
c.4107+2_4107+3delinsTA (n.4107+2_4107+3delinsTA)
c.873+2_873+3delinsTA (n.873+2_873+3delinsTA)
c.735+2_735+3delinsTA (n.735+2_735+3delinsTA)
c.3297+2_3297+3delinsTA (n.3297+2_3297+3delinsTA)
c.4062+2_4062+3delinsTA (n.4062+2_4062+3delinsTA)
c.4044+2_4044+3delinsTA (n.4044+2_4044+3delinsTA)
c.753+2_753+3delinsTA (n.753+2_753+3delinsTA)
c.795+2_795+3delinsTA (n.795+2_795+3delinsTA)
c.506+2_506+3delinsTA
c.759+2_759+3delinsTA (n.759+2_759+3delinsTA)
c.*3968+2_*3968+3delinsTA (n.*3968+2_*3968+3delinsTA)
c.479+2_479+3delinsTA
c.876+2_876+3delinsTA (n.876+2_876+3delinsTA)
c.498+2_498+3delinsTA (n.498+2_498+3delinsTA)
c.501+2_501+3delinsTA (n.501+2_501+3delinsTA)
c.5-26991_5-26990delinsTA (n.5-26991_5-26990delinsTA)
c.-43-16421_-43-16420delinsTA (n.-43-16421_-43-16420delinsTA)
c.-99+34329_-99+34330delinsTA (n.-99+34329_-99+34330delinsTA)
n.4321+2_4321+3delinsTA
n.4362+2_4362+3delinsTA
17g.43090942_43090945delCA327916BRCA1c.4185_4185+3del
c.4059_4059+3del
c.4182_4182+3del
c.4107_4107+3del
c.873_873+3del
c.735_735+3del
c.3297_3297+3del
c.4062_4062+3del
c.4044_4044+3del
c.753_753+3del
c.795_795+3del
c.506_506+3del
c.759_759+3del
c.*3968_*3968+3del
c.479_479+3del
c.876_876+3del
c.498_498+3del
c.501_501+3del
c.5-26993_5-26990del (n.5-26993_5-26990del)
c.-43-16423_-43-16420del (n.-43-16423_-43-16420del)
c.-99+34327_-99+34330del (n.-99+34327_-99+34330del)
n.4321_4321+3del
n.4362_4362+3del
 ClinVar dbSNP
17g.43090942delCA1139665601BRCA1c.4185+2del (n.4185+2del)
c.4059+2del (n.4059+2del)
c.4182+2del (n.4182+2del)
c.4107+2del (n.4107+2del)
c.873+2del (n.873+2del)
c.735+2del (n.735+2del)
c.3297+2del (n.3297+2del)
c.4062+2del (n.4062+2del)
c.4044+2del (n.4044+2del)
c.753+2del (n.753+2del)
c.795+2del (n.795+2del)
c.506+2del
c.759+2del (n.759+2del)
c.*3968+2del (n.*3968+2del)
c.479+2del
c.876+2del (n.876+2del)
c.498+2del (n.498+2del)
c.501+2del (n.501+2del)
c.5-26991del (n.5-26991del)
c.-43-16421del (n.-43-16421del)
c.-99+34329del (n.-99+34329del)
n.4321+2del
n.4362+2del
 ClinVar dbSNP
17g.43090942A=CA2260781626BRCA1c.4185+2T= (n.4185+2T=)
c.4059+2T= (n.4059+2T=)
c.4182+2T= (n.4182+2T=)
c.4107+2T= (n.4107+2T=)
c.873+2T= (n.873+2T=)
c.735+2T= (n.735+2T=)
c.3297+2T= (n.3297+2T=)
c.4062+2T= (n.4062+2T=)
c.4044+2T= (n.4044+2T=)
c.753+2T= (n.753+2T=)
c.795+2T= (n.795+2T=)
c.506+2T=
c.759+2T= (n.759+2T=)
c.*3968+2T= (n.*3968+2T=)
c.479+2T=
c.876+2T= (n.876+2T=)
c.498+2T= (n.498+2T=)
c.501+2T= (n.501+2T=)
c.5-26991T= (n.5-26991T=)
c.-43-16421T= (n.-43-16421T=)
c.-99+34329T= (n.-99+34329T=)
n.4321+2T=
n.4362+2T=
17g.43090942A>CCA10593352BRCA1c.4185+2T>G (n.4185+2T>G)
c.4059+2T>G (n.4059+2T>G)
c.4182+2T>G (n.4182+2T>G)
c.4107+2T>G (n.4107+2T>G)
c.873+2T>G (n.873+2T>G)
c.735+2T>G (n.735+2T>G)
c.3297+2T>G (n.3297+2T>G)
c.4062+2T>G (n.4062+2T>G)
c.4044+2T>G (n.4044+2T>G)
c.753+2T>G (n.753+2T>G)
c.795+2T>G (n.795+2T>G)
c.506+2T>G
c.759+2T>G (n.759+2T>G)
c.*3968+2T>G (n.*3968+2T>G)
c.479+2T>G
c.876+2T>G (n.876+2T>G)
c.498+2T>G (n.498+2T>G)
c.501+2T>G (n.501+2T>G)
c.5-26991T>G (n.5-26991T>G)
c.-43-16421T>G (n.-43-16421T>G)
c.-99+34329T>G (n.-99+34329T>G)
n.4321+2T>G
n.4362+2T>G
 ClinVar dbSNP
17g.43090942A>GCA10593353BRCA1c.4185+2T>C (n.4185+2T>C)
c.4059+2T>C (n.4059+2T>C)
c.4182+2T>C (n.4182+2T>C)
c.4107+2T>C (n.4107+2T>C)
c.873+2T>C (n.873+2T>C)
c.735+2T>C (n.735+2T>C)
c.3297+2T>C (n.3297+2T>C)
c.4062+2T>C (n.4062+2T>C)
c.4044+2T>C (n.4044+2T>C)
c.753+2T>C (n.753+2T>C)
c.795+2T>C (n.795+2T>C)
c.506+2T>C
c.759+2T>C (n.759+2T>C)
c.*3968+2T>C (n.*3968+2T>C)
c.479+2T>C
c.876+2T>C (n.876+2T>C)
c.498+2T>C (n.498+2T>C)
c.501+2T>C (n.501+2T>C)
c.5-26991T>C (n.5-26991T>C)
c.-43-16421T>C (n.-43-16421T>C)
c.-99+34329T>C (n.-99+34329T>C)
n.4321+2T>C
n.4362+2T>C
 ClinVar dbSNP
17g.43090942A>TCA002688BRCA1c.4185+2T>A (n.4185+2T>A)
c.4059+2T>A (n.4059+2T>A)
c.4182+2T>A (n.4182+2T>A)
c.4107+2T>A (n.4107+2T>A)
c.873+2T>A (n.873+2T>A)
c.735+2T>A (n.735+2T>A)
c.3297+2T>A (n.3297+2T>A)
c.4062+2T>A (n.4062+2T>A)
c.4044+2T>A (n.4044+2T>A)
c.753+2T>A (n.753+2T>A)
c.795+2T>A (n.795+2T>A)
c.506+2T>A
c.759+2T>A (n.759+2T>A)
c.*3968+2T>A (n.*3968+2T>A)
c.479+2T>A
c.876+2T>A (n.876+2T>A)
c.498+2T>A (n.498+2T>A)
c.501+2T>A (n.501+2T>A)
c.5-26991T>A (n.5-26991T>A)
c.-43-16421T>A (n.-43-16421T>A)
c.-99+34329T>A (n.-99+34329T>A)
n.4321+2T>A
n.4362+2T>A
 ClinVar dbSNP
17g.43090942dupCA913187774BRCA1c.4185+2dup (n.4185+2dup)
c.4059+2dup (n.4059+2dup)
c.4182+2dup (n.4182+2dup)
c.4107+2dup (n.4107+2dup)
c.873+2dup (n.873+2dup)
c.735+2dup (n.735+2dup)
c.3297+2dup (n.3297+2dup)
c.4062+2dup (n.4062+2dup)
c.4044+2dup (n.4044+2dup)
c.753+2dup (n.753+2dup)
c.795+2dup (n.795+2dup)
c.506+2dup
c.759+2dup (n.759+2dup)
c.*3968+2dup (n.*3968+2dup)
c.479+2dup
c.876+2dup (n.876+2dup)
c.498+2dup (n.498+2dup)
c.501+2dup (n.501+2dup)
c.5-26991dup (n.5-26991dup)
c.-43-16421dup (n.-43-16421dup)
c.-99+34329dup (n.-99+34329dup)
n.4321+2dup
n.4362+2dup
 ClinVar dbSNP
17g.43090942_43090943delinsACCA2260781627BRCA1c.4185+1_4185+2delinsGT (n.4185+1_4185+2delinsGT)
c.4059+1_4059+2delinsGT (n.4059+1_4059+2delinsGT)
c.4182+1_4182+2delinsGT (n.4182+1_4182+2delinsGT)
c.4107+1_4107+2delinsGT (n.4107+1_4107+2delinsGT)
c.873+1_873+2delinsGT (n.873+1_873+2delinsGT)
c.735+1_735+2delinsGT (n.735+1_735+2delinsGT)
c.3297+1_3297+2delinsGT (n.3297+1_3297+2delinsGT)
c.4062+1_4062+2delinsGT (n.4062+1_4062+2delinsGT)
c.4044+1_4044+2delinsGT (n.4044+1_4044+2delinsGT)
c.753+1_753+2delinsGT (n.753+1_753+2delinsGT)
c.795+1_795+2delinsGT (n.795+1_795+2delinsGT)
c.506+1_506+2delinsGT
c.759+1_759+2delinsGT (n.759+1_759+2delinsGT)
c.*3968+1_*3968+2delinsGT (n.*3968+1_*3968+2delinsGT)
c.479+1_479+2delinsGT
c.876+1_876+2delinsGT (n.876+1_876+2delinsGT)
c.498+1_498+2delinsGT (n.498+1_498+2delinsGT)
c.501+1_501+2delinsGT (n.501+1_501+2delinsGT)
c.5-26992_5-26991delinsGT (n.5-26992_5-26991delinsGT)
c.-43-16422_-43-16421delinsGT (n.-43-16422_-43-16421delinsGT)
c.-99+34328_-99+34329delinsGT (n.-99+34328_-99+34329delinsGT)
n.4321+1_4321+2delinsGT
n.4362+1_4362+2delinsGT
17g.43090943C>ACA002684BRCA1c.4185+1G>T (n.4185+1G>T)
c.4059+1G>T (n.4059+1G>T)
c.4182+1G>T (n.4182+1G>T)
c.4107+1G>T (n.4107+1G>T)
c.873+1G>T (n.873+1G>T)
c.735+1G>T (n.735+1G>T)
c.3297+1G>T (n.3297+1G>T)
c.4062+1G>T (n.4062+1G>T)
c.4044+1G>T (n.4044+1G>T)
c.753+1G>T (n.753+1G>T)
c.795+1G>T (n.795+1G>T)
c.506+1G>T
c.759+1G>T (n.759+1G>T)
c.*3968+1G>T (n.*3968+1G>T)
c.479+1G>T
c.876+1G>T (n.876+1G>T)
c.498+1G>T (n.498+1G>T)
c.501+1G>T (n.501+1G>T)
c.5-26992G>T (n.5-26992G>T)
c.-43-16422G>T (n.-43-16422G>T)
c.-99+34328G>T (n.-99+34328G>T)
n.4321+1G>T
n.4362+1G>T
 ClinVar dbSNP
17g.43090943C=CA2260781630BRCA1c.4185+1G= (n.4185+1G=)
c.4059+1G= (n.4059+1G=)
c.4182+1G= (n.4182+1G=)
c.4107+1G= (n.4107+1G=)
c.873+1G= (n.873+1G=)
c.735+1G= (n.735+1G=)
c.3297+1G= (n.3297+1G=)
c.4062+1G= (n.4062+1G=)
c.4044+1G= (n.4044+1G=)
c.753+1G= (n.753+1G=)
c.795+1G= (n.795+1G=)
c.506+1G=
c.759+1G= (n.759+1G=)
c.*3968+1G= (n.*3968+1G=)
c.479+1G=
c.876+1G= (n.876+1G=)
c.498+1G= (n.498+1G=)
c.501+1G= (n.501+1G=)
c.5-26992G= (n.5-26992G=)
c.-43-16422G= (n.-43-16422G=)
c.-99+34328G= (n.-99+34328G=)
n.4321+1G=
n.4362+1G=
17g.43090943C>GCA10593354BRCA1c.4185+1G>C (n.4185+1G>C)
c.4059+1G>C (n.4059+1G>C)
c.4182+1G>C (n.4182+1G>C)
c.4107+1G>C (n.4107+1G>C)
c.873+1G>C (n.873+1G>C)
c.735+1G>C (n.735+1G>C)
c.3297+1G>C (n.3297+1G>C)
c.4062+1G>C (n.4062+1G>C)
c.4044+1G>C (n.4044+1G>C)
c.753+1G>C (n.753+1G>C)
c.795+1G>C (n.795+1G>C)
c.506+1G>C
c.759+1G>C (n.759+1G>C)
c.*3968+1G>C (n.*3968+1G>C)
c.479+1G>C
c.876+1G>C (n.876+1G>C)
c.498+1G>C (n.498+1G>C)
c.501+1G>C (n.501+1G>C)
c.5-26992G>C (n.5-26992G>C)
c.-43-16422G>C (n.-43-16422G>C)
c.-99+34328G>C (n.-99+34328G>C)
n.4321+1G>C
n.4362+1G>C
 ClinVar dbSNP
17g.43090943C>TCA002683BRCA1c.4185+1G>A (n.4185+1G>A)
c.4059+1G>A (n.4059+1G>A)
c.4182+1G>A (n.4182+1G>A)
c.4107+1G>A (n.4107+1G>A)
c.873+1G>A (n.873+1G>A)
c.735+1G>A (n.735+1G>A)
c.3297+1G>A (n.3297+1G>A)
c.4062+1G>A (n.4062+1G>A)
c.4044+1G>A (n.4044+1G>A)
c.753+1G>A (n.753+1G>A)
c.795+1G>A (n.795+1G>A)
c.506+1G>A
c.759+1G>A (n.759+1G>A)
c.*3968+1G>A (n.*3968+1G>A)
c.479+1G>A
c.876+1G>A (n.876+1G>A)
c.498+1G>A (n.498+1G>A)
c.501+1G>A (n.501+1G>A)
c.5-26992G>A (n.5-26992G>A)
c.-43-16422G>A (n.-43-16422G>A)
c.-99+34328G>A (n.-99+34328G>A)
n.4321+1G>A
n.4362+1G>A
 ClinVar dbSNP gnomAD v4
17g.43090943_43090944delCA2695200257BRCA1c.4185_4185+1del
c.4059_4059+1del
c.4182_4182+1del
c.4107_4107+1del
c.873_873+1del
c.735_735+1del
c.3297_3297+1del
c.4062_4062+1del
c.4044_4044+1del
c.753_753+1del
c.795_795+1del
c.506_506+1del
c.759_759+1del
c.*3968_*3968+1del
c.479_479+1del
c.876_876+1del
c.498_498+1del
c.501_501+1del
c.5-26993_5-26992del (n.5-26993_5-26992del)
c.-43-16423_-43-16422del (n.-43-16423_-43-16422del)
c.-99+34327_-99+34328del (n.-99+34327_-99+34328del)
n.4321_4321+1del
n.4362_4362+1del
 ClinVar
17g.43090944delCA913190409BRCA1c.4185+1del
c.4059+1del
c.4182+1del
c.4107+1del
c.873+1del
c.735+1del
c.3297+1del
c.4062+1del
c.4044+1del
c.753+1del
c.795+1del
c.506+1del
c.759+1del
c.*3968+1del
c.479+1del
c.876+1del
c.498+1del
c.501+1del
c.5-26992del (n.5-26992del)
c.-43-16422del (n.-43-16422del)
c.-99+34328del (n.-99+34328del)
n.4321+1del
n.4362+1del
 ClinVar dbSNP
17g.43090943_43090945delinsCCTCA2260781628BRCA1c.4184_4185+1delinsAGG
c.4058_4059+1delinsAGG
c.4181_4182+1delinsAGG
c.4106_4107+1delinsAGG
c.872_873+1delinsAGG
c.734_735+1delinsAGG
c.3296_3297+1delinsAGG
c.4061_4062+1delinsAGG
c.4043_4044+1delinsAGG
c.752_753+1delinsAGG
c.794_795+1delinsAGG
c.505_506+1delinsAGG
c.758_759+1delinsAGG
c.*3967_*3968+1delinsAGG
c.478_479+1delinsAGG
c.875_876+1delinsAGG
c.497_498+1delinsAGG
c.500_501+1delinsAGG
c.5-26994_5-26992delinsAGG (n.5-26994_5-26992delinsAGG)
c.-43-16424_-43-16422delinsAGG (n.-43-16424_-43-16422delinsAGG)
c.-99+34326_-99+34328delinsAGG (n.-99+34326_-99+34328delinsAGG)
n.4320_4321+1delinsAGG
n.4361_4362+1delinsAGG
17g.43090943_43090946delinsCCTGCA2260781629BRCA1c.4183_4185+1delinsCAGG
c.4057_4059+1delinsCAGG
c.4180_4182+1delinsCAGG
c.4105_4107+1delinsCAGG
c.871_873+1delinsCAGG
c.733_735+1delinsCAGG
c.3295_3297+1delinsCAGG
c.4060_4062+1delinsCAGG
c.4042_4044+1delinsCAGG
c.751_753+1delinsCAGG
c.793_795+1delinsCAGG
c.504_506+1delinsCAGG
c.757_759+1delinsCAGG
c.*3966_*3968+1delinsCAGG
c.477_479+1delinsCAGG
c.874_876+1delinsCAGG
c.496_498+1delinsCAGG
c.499_501+1delinsCAGG
c.5-26995_5-26992delinsCAGG (n.5-26995_5-26992delinsCAGG)
c.-43-16425_-43-16422delinsCAGG (n.-43-16425_-43-16422delinsCAGG)
c.-99+34325_-99+34328delinsCAGG (n.-99+34325_-99+34328delinsCAGG)
n.4319_4321+1delinsCAGG
n.4360_4362+1delinsCAGG
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.43090944C>ACA10593355BRCA1c.4185G>T (p.Gln1395His)
c.4059G>T (p.Gln1353His)
c.4182G>T (p.Gln1394His)
c.4107G>T (p.Gln1369His)
c.873G>T (p.Gln291His)
c.735G>T (p.Gln245His)
c.3297G>T (p.Gln1099His)
c.4062G>T (p.Gln1354His)
c.4044G>T (p.Gln1348His)
c.753G>T (p.Gln251His)
c.795G>T (p.Gln265His)
c.506G>T
c.759G>T (p.Gln253His)
c.*3968G>T (n.*3968G>T)
c.479G>T
c.876G>T (p.Gln292His)
c.498G>T (p.Gln166His)
c.501G>T (p.Gln167His)
c.5-26993G>T (n.5-26993G>T)
c.-43-16423G>T (n.-43-16423G>T)
c.-99+34327G>T (n.-99+34327G>T)
n.4321G>T
n.4362G>T
 ClinVar dbSNP gnomAD v4
17g.43090944C=CA2260781631BRCA1c.4185G= (p.Gln1395=)
c.4059G= (p.Gln1353=)
c.4182G= (p.Gln1394=)
c.4107G= (p.Gln1369=)
c.873G= (p.Gln291=)
c.735G= (p.Gln245=)
c.3297G= (p.Gln1099=)
c.4062G= (p.Gln1354=)
c.4044G= (p.Gln1348=)
c.753G= (p.Gln251=)
c.795G= (p.Gln265=)
c.506G=
c.759G= (p.Gln253=)
c.*3968G= (n.*3968G=)
c.479G=
c.876G= (p.Gln292=)
c.498G= (p.Gln166=)
c.501G= (p.Gln167=)
c.5-26993G= (n.5-26993G=)
c.-43-16423G= (n.-43-16423G=)
c.-99+34327G= (n.-99+34327G=)
n.4321G=
n.4362G=
17g.43090944C>GCA10580532BRCA1c.4185G>C (p.Gln1395His)
c.4059G>C (p.Gln1353His)
c.4182G>C (p.Gln1394His)
c.4107G>C (p.Gln1369His)
c.873G>C (p.Gln291His)
c.735G>C (p.Gln245His)
c.3297G>C (p.Gln1099His)
c.4062G>C (p.Gln1354His)
c.4044G>C (p.Gln1348His)
c.753G>C (p.Gln251His)
c.795G>C (p.Gln265His)
c.506G>C
c.759G>C (p.Gln253His)
c.*3968G>C (n.*3968G>C)
c.479G>C
c.876G>C (p.Gln292His)
c.498G>C (p.Gln166His)
c.501G>C (p.Gln167His)
c.5-26993G>C (n.5-26993G>C)
c.-43-16423G>C (n.-43-16423G>C)
c.-99+34327G>C (n.-99+34327G>C)
n.4321G>C
n.4362G>C
 ClinVar dbSNP
17g.43090944C>TCA002692BRCA1c.4185G>A (p.Gln1395=)
c.4059G>A (p.Gln1353=)
c.4182G>A (p.Gln1394=)
c.4107G>A (p.Gln1369=)
c.873G>A (p.Gln291=)
c.735G>A (p.Gln245=)
c.3297G>A (p.Gln1099=)
c.4062G>A (p.Gln1354=)
c.4044G>A (p.Gln1348=)
c.753G>A (p.Gln251=)
c.795G>A (p.Gln265=)
c.506G>A
c.759G>A (p.Gln253=)
c.*3968G>A (n.*3968G>A)
c.479G>A
c.876G>A (p.Gln292=)
c.498G>A (p.Gln166=)
c.501G>A (p.Gln167=)
c.5-26993G>A (n.5-26993G>A)
c.-43-16423G>A (n.-43-16423G>A)
c.-99+34327G>A (n.-99+34327G>A)
n.4321G>A
n.4362G>A
 ClinVar dbSNP gnomAD v4
17g.43090944_43090945delCA772185168BRCA1c.4184_4185del (p.Gln1395ProfsTer8)
c.4058_4059del (p.Gln1353ProfsTer8)
c.4181_4182del (p.Arg1395GlyfsTer6)
c.4106_4107del (p.Gln1369ProfsTer8)
c.872_873del (p.Gln291ProfsTer8)
c.734_735del (p.Gln245ProfsTer8)
c.3296_3297del (p.Gln1099ProfsTer8)
c.4061_4062del (p.Gln1354ProfsTer8)
c.4043_4044del (p.Gln1348ProfsTer8)
c.752_753del (p.Arg252GlyfsTer6)
c.794_795del (p.Gln265ProfsTer8)
c.505_506del
c.758_759del (p.Gln253ProfsTer8)
c.*3967_*3968del (n.*3967_*3968del)
c.478_479del
c.875_876del (p.Gln292ProfsTer8)
c.497_498del (p.Gln166ProfsTer8)
c.500_501del (p.Gln167ProfsTer8)
c.5-26994_5-26993del (n.5-26994_5-26993del)
c.-43-16424_-43-16423del (n.-43-16424_-43-16423del)
c.-99+34326_-99+34327del (n.-99+34326_-99+34327del)
n.4320_4321del
n.4361_4362del
 dbSNP
17g.43090944_43090946delCA002675BRCA1c.4183_4185del (p.Gln1395del)
c.4057_4059del (p.Gln1353del)
c.4180_4182del (p.Gln1394del)
c.4105_4107del (p.Gln1369del)
c.871_873del (p.Gln291del)
c.733_735del (p.Gln245del)
c.3295_3297del (p.Gln1099del)
c.4060_4062del (p.Gln1354del)
c.4042_4044del (p.Gln1348del)
c.751_753del (p.Gln251del)
c.793_795del (p.Gln265del)
c.504_506del
c.757_759del (p.Gln253del)
c.*3966_*3968del (n.*3966_*3968del)
c.477_479del
c.874_876del (p.Gln292del)
c.496_498del (p.Gln166del)
c.499_501del (p.Gln167del)
c.5-26995_5-26993del (n.5-26995_5-26993del)
c.-43-16425_-43-16423del (n.-43-16425_-43-16423del)
c.-99+34325_-99+34327del (n.-99+34325_-99+34327del)
n.4319_4321del
n.4360_4362del
 ClinVar dbSNP
17g.43090944_43090946delinsCTGCA916080150BRCA1c.4183_4185delinsCAG (p.Gln1395=)
c.4057_4059delinsCAG (p.Gln1353=)
c.4180_4182delinsCAG (p.Gln1394=)
c.4105_4107delinsCAG (p.Gln1369=)
c.871_873delinsCAG (p.Gln291=)
c.733_735delinsCAG (p.Gln245=)
c.3295_3297delinsCAG (p.Gln1099=)
c.4060_4062delinsCAG (p.Gln1354=)
c.4042_4044delinsCAG (p.Gln1348=)
c.751_753delinsCAG (p.Gln251=)
c.793_795delinsCAG (p.Gln265=)
c.504_506delinsCAG
c.757_759delinsCAG (p.Gln253=)
c.*3966_*3968delinsCAG (n.*3966_*3968delinsCAG)
c.477_479delinsCAG
c.874_876delinsCAG (p.Gln292=)
c.496_498delinsCAG (p.Gln166=)
c.499_501delinsCAG (p.Gln167=)
c.5-26995_5-26993delinsCAG (n.5-26995_5-26993delinsCAG)
c.-43-16425_-43-16423delinsCAG (n.-43-16425_-43-16423delinsCAG)
c.-99+34325_-99+34327delinsCAG (n.-99+34325_-99+34327delinsCAG)
n.4319_4321delinsCAG
n.4360_4362delinsCAG
17g.43090944_43090947delCA2695225928BRCA1c.4182_4185del (p.Gln1395ArgfsTer9)
c.4056_4059del (p.Gln1353ArgfsTer9)
c.4179_4182del (p.Gln1394GlyfsTer8)
c.4104_4107del (p.Gln1369ArgfsTer9)
c.870_873del (p.Gln291ArgfsTer9)
c.732_735del (p.Gln245ArgfsTer9)
c.3294_3297del (p.Gln1099ArgfsTer9)
c.4059_4062del (p.Gln1354ArgfsTer9)
c.4041_4044del (p.Gln1348ArgfsTer9)
c.750_753del (p.Gln251GlyfsTer8)
c.792_795del (p.Gln265ArgfsTer9)
c.503_506del
c.756_759del (p.Gln253ArgfsTer9)
c.*3965_*3968del (n.*3965_*3968del)
c.476_479del
c.873_876del (p.Gln292ArgfsTer9)
c.495_498del (p.Gln166ArgfsTer9)
c.498_501del (p.Gln167ArgfsTer9)
c.5-26996_5-26993del (n.5-26996_5-26993del)
c.-43-16426_-43-16423del (n.-43-16426_-43-16423del)
c.-99+34324_-99+34327del (n.-99+34324_-99+34327del)
n.4318_4321del
n.4359_4362del
17g.43090945T>ACA10593356BRCA1c.4184A>T (p.Gln1395Leu)
c.4058A>T (p.Gln1353Leu)
c.4181A>T (p.Gln1394Leu)
c.4106A>T (p.Gln1369Leu)
c.872A>T (p.Gln291Leu)
c.734A>T (p.Gln245Leu)
c.3296A>T (p.Gln1099Leu)
c.4061A>T (p.Gln1354Leu)
c.4043A>T (p.Gln1348Leu)
c.752A>T (p.Gln251Leu)
c.794A>T (p.Gln265Leu)
c.505A>T
c.758A>T (p.Gln253Leu)
c.*3967A>T (n.*3967A>T)
c.478A>T
c.875A>T (p.Gln292Leu)
c.497A>T (p.Gln166Leu)
c.500A>T (p.Gln167Leu)
c.5-26994A>T (n.5-26994A>T)
c.-43-16424A>T (n.-43-16424A>T)
c.-99+34326A>T (n.-99+34326A>T)
n.4320A>T
n.4361A>T
 dbSNP
17g.43090945T>CCA002678BRCA1c.4184A>G (p.Gln1395Arg)
c.4058A>G (p.Gln1353Arg)
c.4181A>G (p.Gln1394Arg)
c.4106A>G (p.Gln1369Arg)
c.872A>G (p.Gln291Arg)
c.734A>G (p.Gln245Arg)
c.3296A>G (p.Gln1099Arg)
c.4061A>G (p.Gln1354Arg)
c.4043A>G (p.Gln1348Arg)
c.752A>G (p.Gln251Arg)
c.794A>G (p.Gln265Arg)
c.505A>G
c.758A>G (p.Gln253Arg)
c.*3967A>G (n.*3967A>G)
c.478A>G
c.875A>G (p.Gln292Arg)
c.497A>G (p.Gln166Arg)
c.500A>G (p.Gln167Arg)
c.5-26994A>G (n.5-26994A>G)
c.-43-16424A>G (n.-43-16424A>G)
c.-99+34326A>G (n.-99+34326A>G)
n.4320A>G
n.4361A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090945T>GCA10593357BRCA1c.4184A>C (p.Gln1395Pro)
c.4058A>C (p.Gln1353Pro)
c.4181A>C (p.Gln1394Pro)
c.4106A>C (p.Gln1369Pro)
c.872A>C (p.Gln291Pro)
c.734A>C (p.Gln245Pro)
c.3296A>C (p.Gln1099Pro)
c.4061A>C (p.Gln1354Pro)
c.4043A>C (p.Gln1348Pro)
c.752A>C (p.Gln251Pro)
c.794A>C (p.Gln265Pro)
c.505A>C
c.758A>C (p.Gln253Pro)
c.*3967A>C (n.*3967A>C)
c.478A>C
c.875A>C (p.Gln292Pro)
c.497A>C (p.Gln166Pro)
c.500A>C (p.Gln167Pro)
c.5-26994A>C (n.5-26994A>C)
c.-43-16424A>C (n.-43-16424A>C)
c.-99+34326A>C (n.-99+34326A>C)
n.4320A>C
n.4361A>C
 dbSNP
17g.43090945T=CA2260781632BRCA1c.4184A= (p.Gln1395=)
c.4058A= (p.Gln1353=)
c.4181A= (p.Gln1394=)
c.4106A= (p.Gln1369=)
c.872A= (p.Gln291=)
c.734A= (p.Gln245=)
c.3296A= (p.Gln1099=)
c.4061A= (p.Gln1354=)
c.4043A= (p.Gln1348=)
c.752A= (p.Gln251=)
c.794A= (p.Gln265=)
c.505A=
c.758A= (p.Gln253=)
c.*3967A= (n.*3967A=)
c.478A=
c.875A= (p.Gln292=)
c.497A= (p.Gln166=)
c.500A= (p.Gln167=)
c.5-26994A= (n.5-26994A=)
c.-43-16424A= (n.-43-16424A=)
c.-99+34326A= (n.-99+34326A=)
n.4320A=
n.4361A=
17g.43090945_43090947delinsTGACA2260781633BRCA1c.4182_4184delinsTCA (p.Thr1394=)
c.4056_4058delinsTCA (p.Thr1352=)
c.4179_4181delinsTCA (p.Thr1393=)
c.4104_4106delinsTCA (p.Thr1368=)
c.870_872delinsTCA (p.Thr290=)
c.732_734delinsTCA (p.Thr244=)
c.3294_3296delinsTCA (p.Thr1098=)
c.4059_4061delinsTCA (p.Thr1353=)
c.4041_4043delinsTCA (p.Thr1347=)
c.750_752delinsTCA (p.Thr250=)
c.792_794delinsTCA (p.Thr264=)
c.503_505delinsTCA
c.756_758delinsTCA (p.Thr252=)
c.*3965_*3967delinsTCA (n.*3965_*3967delinsTCA)
c.476_478delinsTCA
c.873_875delinsTCA (p.Thr291=)
c.495_497delinsTCA (p.Thr165=)
c.498_500delinsTCA (p.Thr166=)
c.5-26996_5-26994delinsTCA (n.5-26996_5-26994delinsTCA)
c.-43-16426_-43-16424delinsTCA (n.-43-16426_-43-16424delinsTCA)
c.-99+34324_-99+34326delinsTCA (n.-99+34324_-99+34326delinsTCA)
n.4318_4320delinsTCA
n.4359_4361delinsTCA
17g.43090946G>ACA002677BRCA1c.4183C>T (p.Gln1395Ter)
c.4057C>T (p.Gln1353Ter)
c.4180C>T (p.Gln1394Ter)
c.4105C>T (p.Gln1369Ter)
c.871C>T (p.Gln291Ter)
c.733C>T (p.Gln245Ter)
c.3295C>T (p.Gln1099Ter)
c.4060C>T (p.Gln1354Ter)
c.4042C>T (p.Gln1348Ter)
c.751C>T (p.Gln251Ter)
c.793C>T (p.Gln265Ter)
c.504C>T
c.757C>T (p.Gln253Ter)
c.*3966C>T (n.*3966C>T)
c.477C>T
c.874C>T (p.Gln292Ter)
c.496C>T (p.Gln166Ter)
c.499C>T (p.Gln167Ter)
c.5-26995C>T (n.5-26995C>T)
c.-43-16425C>T (n.-43-16425C>T)
c.-99+34325C>T (n.-99+34325C>T)
n.4319C>T
n.4360C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090946G>CCA10593358BRCA1c.4183C>G (p.Gln1395Glu)
c.4057C>G (p.Gln1353Glu)
c.4180C>G (p.Gln1394Glu)
c.4105C>G (p.Gln1369Glu)
c.871C>G (p.Gln291Glu)
c.733C>G (p.Gln245Glu)
c.3295C>G (p.Gln1099Glu)
c.4060C>G (p.Gln1354Glu)
c.4042C>G (p.Gln1348Glu)
c.751C>G (p.Gln251Glu)
c.793C>G (p.Gln265Glu)
c.504C>G
c.757C>G (p.Gln253Glu)
c.*3966C>G (n.*3966C>G)
c.477C>G
c.874C>G (p.Gln292Glu)
c.496C>G (p.Gln166Glu)
c.499C>G (p.Gln167Glu)
c.5-26995C>G (n.5-26995C>G)
c.-43-16425C>G (n.-43-16425C>G)
c.-99+34325C>G (n.-99+34325C>G)
n.4319C>G
n.4360C>G
 ClinVar dbSNP gnomAD v4
17g.43090946G=CA2260781634BRCA1c.4183C= (p.Gln1395=)
c.4057C= (p.Gln1353=)
c.4180C= (p.Gln1394=)
c.4105C= (p.Gln1369=)
c.871C= (p.Gln291=)
c.733C= (p.Gln245=)
c.3295C= (p.Gln1099=)
c.4060C= (p.Gln1354=)
c.4042C= (p.Gln1348=)
c.751C= (p.Gln251=)
c.793C= (p.Gln265=)
c.504C=
c.757C= (p.Gln253=)
c.*3966C= (n.*3966C=)
c.477C=
c.874C= (p.Gln292=)
c.496C= (p.Gln166=)
c.499C= (p.Gln167=)
c.5-26995C= (n.5-26995C=)
c.-43-16425C= (n.-43-16425C=)
c.-99+34325C= (n.-99+34325C=)
n.4319C=
n.4360C=
17g.43090946G>TCA10593359BRCA1c.4183C>A (p.Gln1395Lys)
c.4057C>A (p.Gln1353Lys)
c.4180C>A (p.Gln1394Lys)
c.4105C>A (p.Gln1369Lys)
c.871C>A (p.Gln291Lys)
c.733C>A (p.Gln245Lys)
c.3295C>A (p.Gln1099Lys)
c.4060C>A (p.Gln1354Lys)
c.4042C>A (p.Gln1348Lys)
c.751C>A (p.Gln251Lys)
c.793C>A (p.Gln265Lys)
c.504C>A
c.757C>A (p.Gln253Lys)
c.*3966C>A (n.*3966C>A)
c.477C>A
c.874C>A (p.Gln292Lys)
c.496C>A (p.Gln166Lys)
c.499C>A (p.Gln167Lys)
c.5-26995C>A (n.5-26995C>A)
c.-43-16425C>A (n.-43-16425C>A)
c.-99+34325C>A (n.-99+34325C>A)
n.4319C>A
n.4360C>A
 dbSNP gnomAD v4
17g.43090947_43090948dupCA002674BRCA1c.4182_4183dup (p.Gln1395LeufsTer11)
c.4056_4057dup (p.Gln1353LeufsTer11)
c.4179_4180dup (p.Gln1394LeufsTer10)
c.4104_4105dup (p.Gln1369LeufsTer11)
c.870_871dup (p.Gln291LeufsTer11)
c.732_733dup (p.Gln245LeufsTer11)
c.3294_3295dup (p.Gln1099LeufsTer11)
c.4059_4060dup (p.Gln1354LeufsTer11)
c.4041_4042dup (p.Gln1348LeufsTer11)
c.750_751dup (p.Gln251LeufsTer10)
c.792_793dup (p.Gln265LeufsTer11)
c.503_504dup
c.756_757dup (p.Gln253LeufsTer11)
c.*3965_*3966dup (n.*3965_*3966dup)
c.476_477dup
c.873_874dup (p.Gln292LeufsTer11)
c.495_496dup (p.Gln166LeufsTer11)
c.498_499dup (p.Gln167LeufsTer11)
c.5-26996_5-26995dup (n.5-26996_5-26995dup)
c.-43-16426_-43-16425dup (n.-43-16426_-43-16425dup)
c.-99+34324_-99+34325dup (n.-99+34324_-99+34325dup)
n.4318_4319dup
n.4359_4360dup
 ClinVar dbSNP ExAC gnomAD v2
17g.43090947_43090948delCA916080158BRCA1c.4182_4183del (p.Gln1395AlafsTer8)
c.4056_4057del (p.Gln1353AlafsTer8)
c.4179_4180del (p.Gln1394GlufsTer7)
c.4104_4105del (p.Gln1369AlafsTer8)
c.870_871del (p.Gln291AlafsTer8)
c.732_733del (p.Gln245AlafsTer8)
c.3294_3295del (p.Gln1099AlafsTer8)
c.4059_4060del (p.Gln1354AlafsTer8)
c.4041_4042del (p.Gln1348AlafsTer8)
c.750_751del (p.Gln251GlufsTer7)
c.792_793del (p.Gln265AlafsTer8)
c.503_504del
c.756_757del (p.Gln253AlafsTer8)
c.*3965_*3966del (n.*3965_*3966del)
c.476_477del
c.873_874del (p.Gln292AlafsTer8)
c.495_496del (p.Gln166AlafsTer8)
c.498_499del (p.Gln167AlafsTer8)
c.5-26996_5-26995del (n.5-26996_5-26995del)
c.-43-16426_-43-16425del (n.-43-16426_-43-16425del)
c.-99+34324_-99+34325del (n.-99+34324_-99+34325del)
n.4318_4319del
n.4359_4360del
 ClinVar dbSNP
17g.43090946_43090947insGACA2695225929BRCA1c.4182_4183insTC (p.Gln1395SerfsTer11)
c.4056_4057insTC (p.Gln1353SerfsTer11)
c.4179_4180insTC (p.Gln1394SerfsTer10)
c.4104_4105insTC (p.Gln1369SerfsTer11)
c.870_871insTC (p.Gln291SerfsTer11)
c.732_733insTC (p.Gln245SerfsTer11)
c.3294_3295insTC (p.Gln1099SerfsTer11)
c.4059_4060insTC (p.Gln1354SerfsTer11)
c.4041_4042insTC (p.Gln1348SerfsTer11)
c.750_751insTC (p.Gln251SerfsTer10)
c.792_793insTC (p.Gln265SerfsTer11)
c.503_504insTC
c.756_757insTC (p.Gln253SerfsTer11)
c.*3965_*3966insTC (n.*3965_*3966insTC)
c.476_477insTC
c.873_874insTC (p.Gln292SerfsTer11)
c.495_496insTC (p.Gln166SerfsTer11)
c.498_499insTC (p.Gln167SerfsTer11)
c.5-26996_5-26995insTC (n.5-26996_5-26995insTC)
c.-43-16426_-43-16425insTC (n.-43-16426_-43-16425insTC)
c.-99+34324_-99+34325insTC (n.-99+34324_-99+34325insTC)
n.4318_4319insTC
n.4359_4360insTC
17g.43090947A=CA2260781635BRCA1c.4182T= (p.Thr1394=)
c.4056T= (p.Thr1352=)
c.4179T= (p.Thr1393=)
c.4104T= (p.Thr1368=)
c.870T= (p.Thr290=)
c.732T= (p.Thr244=)
c.3294T= (p.Thr1098=)
c.4059T= (p.Thr1353=)
c.4041T= (p.Thr1347=)
c.750T= (p.Thr250=)
c.792T= (p.Thr264=)
c.503T=
c.756T= (p.Thr252=)
c.*3965T= (n.*3965T=)
c.476T=
c.873T= (p.Thr291=)
c.495T= (p.Thr165=)
c.498T= (p.Thr166=)
c.5-26996T= (n.5-26996T=)
c.-43-16426T= (n.-43-16426T=)
c.-99+34324T= (n.-99+34324T=)
n.4318T=
n.4359T=
17g.43090947A>CCA500122836BRCA1c.4182T>G (p.Thr1394=)
c.4056T>G (p.Thr1352=)
c.4179T>G (p.Thr1393=)
c.4104T>G (p.Thr1368=)
c.870T>G (p.Thr290=)
c.732T>G (p.Thr244=)
c.3294T>G (p.Thr1098=)
c.4059T>G (p.Thr1353=)
c.4041T>G (p.Thr1347=)
c.750T>G (p.Thr250=)
c.792T>G (p.Thr264=)
c.503T>G
c.756T>G (p.Thr252=)
c.*3965T>G (n.*3965T>G)
c.476T>G
c.873T>G (p.Thr291=)
c.495T>G (p.Thr165=)
c.498T>G (p.Thr166=)
c.5-26996T>G (n.5-26996T>G)
c.-43-16426T>G (n.-43-16426T>G)
c.-99+34324T>G (n.-99+34324T>G)
n.4318T>G
n.4359T>G
17g.43090947A>GCA349537BRCA1c.4182T>C (p.Thr1394=)
c.4056T>C (p.Thr1352=)
c.4179T>C (p.Thr1393=)
c.4104T>C (p.Thr1368=)
c.870T>C (p.Thr290=)
c.732T>C (p.Thr244=)
c.3294T>C (p.Thr1098=)
c.4059T>C (p.Thr1353=)
c.4041T>C (p.Thr1347=)
c.750T>C (p.Thr250=)
c.792T>C (p.Thr264=)
c.503T>C
c.756T>C (p.Thr252=)
c.*3965T>C (n.*3965T>C)
c.476T>C
c.873T>C (p.Thr291=)
c.495T>C (p.Thr165=)
c.498T>C (p.Thr166=)
c.5-26996T>C (n.5-26996T>C)
c.-43-16426T>C (n.-43-16426T>C)
c.-99+34324T>C (n.-99+34324T>C)
n.4318T>C
n.4359T>C
 ClinVar dbSNP
17g.43090947A>TCA500122838BRCA1c.4182T>A (p.Thr1394=)
c.4056T>A (p.Thr1352=)
c.4179T>A (p.Thr1393=)
c.4104T>A (p.Thr1368=)
c.870T>A (p.Thr290=)
c.732T>A (p.Thr244=)
c.3294T>A (p.Thr1098=)
c.4059T>A (p.Thr1353=)
c.4041T>A (p.Thr1347=)
c.750T>A (p.Thr250=)
c.792T>A (p.Thr264=)
c.503T>A
c.756T>A (p.Thr252=)
c.*3965T>A (n.*3965T>A)
c.476T>A
c.873T>A (p.Thr291=)
c.495T>A (p.Thr165=)
c.498T>A (p.Thr166=)
c.5-26996T>A (n.5-26996T>A)
c.-43-16426T>A (n.-43-16426T>A)
c.-99+34324T>A (n.-99+34324T>A)
n.4318T>A
n.4359T>A
 dbSNP
17g.43090948G>ACA002673BRCA1c.4181C>T (p.Thr1394Ile)
c.4055C>T (p.Thr1352Ile)
c.4178C>T (p.Thr1393Ile)
c.4103C>T (p.Thr1368Ile)
c.869C>T (p.Thr290Ile)
c.731C>T (p.Thr244Ile)
c.3293C>T (p.Thr1098Ile)
c.4058C>T (p.Thr1353Ile)
c.4040C>T (p.Thr1347Ile)
c.749C>T (p.Thr250Ile)
c.791C>T (p.Thr264Ile)
c.502C>T
c.755C>T (p.Thr252Ile)
c.*3964C>T (n.*3964C>T)
c.475C>T
c.872C>T (p.Thr291Ile)
c.494C>T (p.Thr165Ile)
c.497C>T (p.Thr166Ile)
c.5-26997C>T (n.5-26997C>T)
c.-43-16427C>T (n.-43-16427C>T)
c.-99+34323C>T (n.-99+34323C>T)
n.4317C>T
n.4358C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090948G>CCA10593360BRCA1c.4181C>G (p.Thr1394Ser)
c.4055C>G (p.Thr1352Ser)
c.4178C>G (p.Thr1393Ser)
c.4103C>G (p.Thr1368Ser)
c.869C>G (p.Thr290Ser)
c.731C>G (p.Thr244Ser)
c.3293C>G (p.Thr1098Ser)
c.4058C>G (p.Thr1353Ser)
c.4040C>G (p.Thr1347Ser)
c.749C>G (p.Thr250Ser)
c.791C>G (p.Thr264Ser)
c.502C>G
c.755C>G (p.Thr252Ser)
c.*3964C>G (n.*3964C>G)
c.475C>G
c.872C>G (p.Thr291Ser)
c.494C>G (p.Thr165Ser)
c.497C>G (p.Thr166Ser)
c.5-26997C>G (n.5-26997C>G)
c.-43-16427C>G (n.-43-16427C>G)
c.-99+34323C>G (n.-99+34323C>G)
n.4317C>G
n.4358C>G
 dbSNP
17g.43090948G=CA2260781636BRCA1c.4181C= (p.Thr1394=)
c.4055C= (p.Thr1352=)
c.4178C= (p.Thr1393=)
c.4103C= (p.Thr1368=)
c.869C= (p.Thr290=)
c.731C= (p.Thr244=)
c.3293C= (p.Thr1098=)
c.4058C= (p.Thr1353=)
c.4040C= (p.Thr1347=)
c.749C= (p.Thr250=)
c.791C= (p.Thr264=)
c.502C=
c.755C= (p.Thr252=)
c.*3964C= (n.*3964C=)
c.475C=
c.872C= (p.Thr291=)
c.494C= (p.Thr165=)
c.497C= (p.Thr166=)
c.5-26997C= (n.5-26997C=)
c.-43-16427C= (n.-43-16427C=)
c.-99+34323C= (n.-99+34323C=)
n.4317C=
n.4358C=
17g.43090948G>TCA10593361BRCA1c.4181C>A (p.Thr1394Asn)
c.4055C>A (p.Thr1352Asn)
c.4178C>A (p.Thr1393Asn)
c.4103C>A (p.Thr1368Asn)
c.869C>A (p.Thr290Asn)
c.731C>A (p.Thr244Asn)
c.3293C>A (p.Thr1098Asn)
c.4058C>A (p.Thr1353Asn)
c.4040C>A (p.Thr1347Asn)
c.749C>A (p.Thr250Asn)
c.791C>A (p.Thr264Asn)
c.502C>A
c.755C>A (p.Thr252Asn)
c.*3964C>A (n.*3964C>A)
c.475C>A
c.872C>A (p.Thr291Asn)
c.494C>A (p.Thr165Asn)
c.497C>A (p.Thr166Asn)
c.5-26997C>A (n.5-26997C>A)
c.-43-16427C>A (n.-43-16427C>A)
c.-99+34323C>A (n.-99+34323C>A)
n.4317C>A
n.4358C>A
17g.43090949delCA2695225930BRCA1c.4180del (p.Thr1394LeufsTer11)
c.4054del (p.Thr1352LeufsTer11)
c.4177del (p.Thr1393LeufsTer10)
c.4102del (p.Thr1368LeufsTer11)
c.868del (p.Thr290LeufsTer11)
c.730del (p.Thr244LeufsTer11)
c.3292del (p.Thr1098LeufsTer11)
c.4057del (p.Thr1353LeufsTer11)
c.4039del (p.Thr1347LeufsTer11)
c.748del (p.Thr250LeufsTer10)
c.790del (p.Thr264LeufsTer11)
c.501del
c.754del (p.Thr252LeufsTer11)
c.*3963del (n.*3963del)
c.474del
c.871del (p.Thr291LeufsTer11)
c.493del (p.Thr165LeufsTer11)
c.496del (p.Thr166LeufsTer11)
c.5-26998del (n.5-26998del)
c.-43-16428del (n.-43-16428del)
c.-99+34322del (n.-99+34322del)
n.4316del
n.4357del
17g.43090949T>ACA10593362BRCA1c.4180A>T (p.Thr1394Ser)
c.4054A>T (p.Thr1352Ser)
c.4177A>T (p.Thr1393Ser)
c.4102A>T (p.Thr1368Ser)
c.868A>T (p.Thr290Ser)
c.730A>T (p.Thr244Ser)
c.3292A>T (p.Thr1098Ser)
c.4057A>T (p.Thr1353Ser)
c.4039A>T (p.Thr1347Ser)
c.748A>T (p.Thr250Ser)
c.790A>T (p.Thr264Ser)
c.501A>T
c.754A>T (p.Thr252Ser)
c.*3963A>T (n.*3963A>T)
c.474A>T
c.871A>T (p.Thr291Ser)
c.493A>T (p.Thr165Ser)
c.496A>T (p.Thr166Ser)
c.5-26998A>T (n.5-26998A>T)
c.-43-16428A>T (n.-43-16428A>T)
c.-99+34322A>T (n.-99+34322A>T)
n.4316A>T
n.4357A>T
17g.43090949T>CCA10593363BRCA1c.4180A>G (p.Thr1394Ala)
c.4054A>G (p.Thr1352Ala)
c.4177A>G (p.Thr1393Ala)
c.4102A>G (p.Thr1368Ala)
c.868A>G (p.Thr290Ala)
c.730A>G (p.Thr244Ala)
c.3292A>G (p.Thr1098Ala)
c.4057A>G (p.Thr1353Ala)
c.4039A>G (p.Thr1347Ala)
c.748A>G (p.Thr250Ala)
c.790A>G (p.Thr264Ala)
c.501A>G
c.754A>G (p.Thr252Ala)
c.*3963A>G (n.*3963A>G)
c.474A>G
c.871A>G (p.Thr291Ala)
c.493A>G (p.Thr165Ala)
c.496A>G (p.Thr166Ala)
c.5-26998A>G (n.5-26998A>G)
c.-43-16428A>G (n.-43-16428A>G)
c.-99+34322A>G (n.-99+34322A>G)
n.4316A>G
n.4357A>G
17g.43090949T>GCA10593364BRCA1c.4180A>C (p.Thr1394Pro)
c.4054A>C (p.Thr1352Pro)
c.4177A>C (p.Thr1393Pro)
c.4102A>C (p.Thr1368Pro)
c.868A>C (p.Thr290Pro)
c.730A>C (p.Thr244Pro)
c.3292A>C (p.Thr1098Pro)
c.4057A>C (p.Thr1353Pro)
c.4039A>C (p.Thr1347Pro)
c.748A>C (p.Thr250Pro)
c.790A>C (p.Thr264Pro)
c.501A>C
c.754A>C (p.Thr252Pro)
c.*3963A>C (n.*3963A>C)
c.474A>C
c.871A>C (p.Thr291Pro)
c.493A>C (p.Thr165Pro)
c.496A>C (p.Thr166Pro)
c.5-26998A>C (n.5-26998A>C)
c.-43-16428A>C (n.-43-16428A>C)
c.-99+34322A>C (n.-99+34322A>C)
n.4316A>C
n.4357A>C
 ClinVar dbSNP
17g.43090949T=CA2260781637BRCA1c.4180A= (p.Thr1394=)
c.4054A= (p.Thr1352=)
c.4177A= (p.Thr1393=)
c.4102A= (p.Thr1368=)
c.868A= (p.Thr290=)
c.730A= (p.Thr244=)
c.3292A= (p.Thr1098=)
c.4057A= (p.Thr1353=)
c.4039A= (p.Thr1347=)
c.748A= (p.Thr250=)
c.790A= (p.Thr264=)
c.501A=
c.754A= (p.Thr252=)
c.*3963A= (n.*3963A=)
c.474A=
c.871A= (p.Thr291=)
c.493A= (p.Thr165=)
c.496A= (p.Thr166=)
c.5-26998A= (n.5-26998A=)
c.-43-16428A= (n.-43-16428A=)
c.-99+34322A= (n.-99+34322A=)
n.4316A=
n.4357A=
17g.43090949dupCA2638063823BRCA1c.4180dup (p.Thr1394AsnfsTer10)
c.4054dup (p.Thr1352AsnfsTer10)
c.4177dup (p.Thr1393AsnfsTer9)
c.4102dup (p.Thr1368AsnfsTer10)
c.868dup (p.Thr290AsnfsTer10)
c.730dup (p.Thr244AsnfsTer10)
c.3292dup (p.Thr1098AsnfsTer10)
c.4057dup (p.Thr1353AsnfsTer10)
c.4039dup (p.Thr1347AsnfsTer10)
c.748dup (p.Thr250AsnfsTer9)
c.790dup (p.Thr264AsnfsTer10)
c.501dup
c.754dup (p.Thr252AsnfsTer10)
c.*3963dup (n.*3963dup)
c.474dup
c.871dup (p.Thr291AsnfsTer10)
c.493dup (p.Thr165AsnfsTer10)
c.496dup (p.Thr166AsnfsTer10)
c.5-26998dup (n.5-26998dup)
c.-43-16428dup (n.-43-16428dup)
c.-99+34322dup (n.-99+34322dup)
n.4316dup
n.4357dup
 gnomAD v4
17g.43090950G>ACA10580533BRCA1c.4179C>T (p.Thr1393=)
c.4053C>T (p.Thr1351=)
c.4176C>T (p.Thr1392=)
c.4101C>T (p.Thr1367=)
c.867C>T (p.Thr289=)
c.729C>T (p.Thr243=)
c.3291C>T (p.Thr1097=)
c.4056C>T (p.Thr1352=)
c.4038C>T (p.Thr1346=)
c.747C>T (p.Thr249=)
c.789C>T (p.Thr263=)
c.500C>T
c.753C>T (p.Thr251=)
c.*3962C>T (n.*3962C>T)
c.473C>T
c.870C>T (p.Thr290=)
c.492C>T (p.Thr164=)
c.495C>T (p.Thr165=)
c.5-26999C>T (n.5-26999C>T)
c.-43-16429C>T (n.-43-16429C>T)
c.-99+34321C>T (n.-99+34321C>T)
n.4315C>T
n.4356C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090950G>CCA059532BRCA1c.4179C>G (p.Thr1393=)
c.4053C>G (p.Thr1351=)
c.4176C>G (p.Thr1392=)
c.4101C>G (p.Thr1367=)
c.867C>G (p.Thr289=)
c.729C>G (p.Thr243=)
c.3291C>G (p.Thr1097=)
c.4056C>G (p.Thr1352=)
c.4038C>G (p.Thr1346=)
c.747C>G (p.Thr249=)
c.789C>G (p.Thr263=)
c.500C>G
c.753C>G (p.Thr251=)
c.*3962C>G (n.*3962C>G)
c.473C>G
c.870C>G (p.Thr290=)
c.492C>G (p.Thr164=)
c.495C>G (p.Thr165=)
c.5-26999C>G (n.5-26999C>G)
c.-43-16429C>G (n.-43-16429C>G)
c.-99+34321C>G (n.-99+34321C>G)
n.4315C>G
n.4356C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090950G=CA2260781638BRCA1c.4179C= (p.Thr1393=)
c.4053C= (p.Thr1351=)
c.4176C= (p.Thr1392=)
c.4101C= (p.Thr1367=)
c.867C= (p.Thr289=)
c.729C= (p.Thr243=)
c.3291C= (p.Thr1097=)
c.4056C= (p.Thr1352=)
c.4038C= (p.Thr1346=)
c.747C= (p.Thr249=)
c.789C= (p.Thr263=)
c.500C=
c.753C= (p.Thr251=)
c.*3962C= (n.*3962C=)
c.473C=
c.870C= (p.Thr290=)
c.492C= (p.Thr164=)
c.495C= (p.Thr165=)
c.5-26999C= (n.5-26999C=)
c.-43-16429C= (n.-43-16429C=)
c.-99+34321C= (n.-99+34321C=)
n.4315C=
n.4356C=
17g.43090950G>TCA500122849BRCA1c.4179C>A (p.Thr1393=)
c.4053C>A (p.Thr1351=)
c.4176C>A (p.Thr1392=)
c.4101C>A (p.Thr1367=)
c.867C>A (p.Thr289=)
c.729C>A (p.Thr243=)
c.3291C>A (p.Thr1097=)
c.4056C>A (p.Thr1352=)
c.4038C>A (p.Thr1346=)
c.747C>A (p.Thr249=)
c.789C>A (p.Thr263=)
c.500C>A
c.753C>A (p.Thr251=)
c.*3962C>A (n.*3962C>A)
c.473C>A
c.870C>A (p.Thr290=)
c.492C>A (p.Thr164=)
c.495C>A (p.Thr165=)
c.5-26999C>A (n.5-26999C>A)
c.-43-16429C>A (n.-43-16429C>A)
c.-99+34321C>A (n.-99+34321C>A)
n.4315C>A
n.4356C>A
 dbSNP
17g.43090951G>ACA10593365BRCA1c.4178C>T (p.Thr1393Ile)
c.4052C>T (p.Thr1351Ile)
c.4175C>T (p.Thr1392Ile)
c.4100C>T (p.Thr1367Ile)
c.866C>T (p.Thr289Ile)
c.728C>T (p.Thr243Ile)
c.3290C>T (p.Thr1097Ile)
c.4055C>T (p.Thr1352Ile)
c.4037C>T (p.Thr1346Ile)
c.746C>T (p.Thr249Ile)
c.788C>T (p.Thr263Ile)
c.499C>T
c.752C>T (p.Thr251Ile)
c.*3961C>T (n.*3961C>T)
c.472C>T
c.869C>T (p.Thr290Ile)
c.491C>T (p.Thr164Ile)
c.494C>T (p.Thr165Ile)
c.5-27000C>T (n.5-27000C>T)
c.-43-16430C>T (n.-43-16430C>T)
c.-99+34320C>T (n.-99+34320C>T)
n.4314C>T
n.4355C>T
 dbSNP
17g.43090951G>CCA10593366BRCA1c.4178C>G (p.Thr1393Ser)
c.4052C>G (p.Thr1351Ser)
c.4175C>G (p.Thr1392Ser)
c.4100C>G (p.Thr1367Ser)
c.866C>G (p.Thr289Ser)
c.728C>G (p.Thr243Ser)
c.3290C>G (p.Thr1097Ser)
c.4055C>G (p.Thr1352Ser)
c.4037C>G (p.Thr1346Ser)
c.746C>G (p.Thr249Ser)
c.788C>G (p.Thr263Ser)
c.499C>G
c.752C>G (p.Thr251Ser)
c.*3961C>G (n.*3961C>G)
c.472C>G
c.869C>G (p.Thr290Ser)
c.491C>G (p.Thr164Ser)
c.494C>G (p.Thr165Ser)
c.5-27000C>G (n.5-27000C>G)
c.-43-16430C>G (n.-43-16430C>G)
c.-99+34320C>G (n.-99+34320C>G)
n.4314C>G
n.4355C>G
 ClinVar dbSNP
17g.43090951G=CA2260781639BRCA1c.4178C= (p.Thr1393=)
c.4052C= (p.Thr1351=)
c.4175C= (p.Thr1392=)
c.4100C= (p.Thr1367=)
c.866C= (p.Thr289=)
c.728C= (p.Thr243=)
c.3290C= (p.Thr1097=)
c.4055C= (p.Thr1352=)
c.4037C= (p.Thr1346=)
c.746C= (p.Thr249=)
c.788C= (p.Thr263=)
c.499C=
c.752C= (p.Thr251=)
c.*3961C= (n.*3961C=)
c.472C=
c.869C= (p.Thr290=)
c.491C= (p.Thr164=)
c.494C= (p.Thr165=)
c.5-27000C= (n.5-27000C=)
c.-43-16430C= (n.-43-16430C=)
c.-99+34320C= (n.-99+34320C=)
n.4314C=
n.4355C=
17g.43090951G>TCA10593367BRCA1c.4178C>A (p.Thr1393Asn)
c.4052C>A (p.Thr1351Asn)
c.4175C>A (p.Thr1392Asn)
c.4100C>A (p.Thr1367Asn)
c.866C>A (p.Thr289Asn)
c.728C>A (p.Thr243Asn)
c.3290C>A (p.Thr1097Asn)
c.4055C>A (p.Thr1352Asn)
c.4037C>A (p.Thr1346Asn)
c.746C>A (p.Thr249Asn)
c.788C>A (p.Thr263Asn)
c.499C>A
c.752C>A (p.Thr251Asn)
c.*3961C>A (n.*3961C>A)
c.472C>A
c.869C>A (p.Thr290Asn)
c.491C>A (p.Thr164Asn)
c.494C>A (p.Thr165Asn)
c.5-27000C>A (n.5-27000C>A)
c.-43-16430C>A (n.-43-16430C>A)
c.-99+34320C>A (n.-99+34320C>A)
n.4314C>A
n.4355C>A
 dbSNP gnomAD v4 COSMIC COSMIC
17g.43090952T>ACA10593368BRCA1c.4177A>T (p.Thr1393Ser)
c.4051A>T (p.Thr1351Ser)
c.4174A>T (p.Thr1392Ser)
c.4099A>T (p.Thr1367Ser)
c.865A>T (p.Thr289Ser)
c.727A>T (p.Thr243Ser)
c.3289A>T (p.Thr1097Ser)
c.4054A>T (p.Thr1352Ser)
c.4036A>T (p.Thr1346Ser)
c.745A>T (p.Thr249Ser)
c.787A>T (p.Thr263Ser)
c.498A>T
c.751A>T (p.Thr251Ser)
c.*3960A>T (n.*3960A>T)
c.471A>T
c.868A>T (p.Thr290Ser)
c.490A>T (p.Thr164Ser)
c.493A>T (p.Thr165Ser)
c.5-27001A>T (n.5-27001A>T)
c.-43-16431A>T (n.-43-16431A>T)
c.-99+34319A>T (n.-99+34319A>T)
n.4313A>T
n.4354A>T
 dbSNP
17g.43090952T>CCA002672BRCA1c.4177A>G (p.Thr1393Ala)
c.4051A>G (p.Thr1351Ala)
c.4174A>G (p.Thr1392Ala)
c.4099A>G (p.Thr1367Ala)
c.865A>G (p.Thr289Ala)
c.727A>G (p.Thr243Ala)
c.3289A>G (p.Thr1097Ala)
c.4054A>G (p.Thr1352Ala)
c.4036A>G (p.Thr1346Ala)
c.745A>G (p.Thr249Ala)
c.787A>G (p.Thr263Ala)
c.498A>G
c.751A>G (p.Thr251Ala)
c.*3960A>G (n.*3960A>G)
c.471A>G
c.868A>G (p.Thr290Ala)
c.490A>G (p.Thr164Ala)
c.493A>G (p.Thr165Ala)
c.5-27001A>G (n.5-27001A>G)
c.-43-16431A>G (n.-43-16431A>G)
c.-99+34319A>G (n.-99+34319A>G)
n.4313A>G
n.4354A>G
 ClinVar dbSNP
17g.43090952T>GCA059525BRCA1c.4177A>C (p.Thr1393Pro)
c.4051A>C (p.Thr1351Pro)
c.4174A>C (p.Thr1392Pro)
c.4099A>C (p.Thr1367Pro)
c.865A>C (p.Thr289Pro)
c.727A>C (p.Thr243Pro)
c.3289A>C (p.Thr1097Pro)
c.4054A>C (p.Thr1352Pro)
c.4036A>C (p.Thr1346Pro)
c.745A>C (p.Thr249Pro)
c.787A>C (p.Thr263Pro)
c.498A>C
c.751A>C (p.Thr251Pro)
c.*3960A>C (n.*3960A>C)
c.471A>C
c.868A>C (p.Thr290Pro)
c.490A>C (p.Thr164Pro)
c.493A>C (p.Thr165Pro)
c.5-27001A>C (n.5-27001A>C)
c.-43-16431A>C (n.-43-16431A>C)
c.-99+34319A>C (n.-99+34319A>C)
n.4313A>C
n.4354A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090952T=CA2260781640BRCA1c.4177A= (p.Thr1393=)
c.4051A= (p.Thr1351=)
c.4174A= (p.Thr1392=)
c.4099A= (p.Thr1367=)
c.865A= (p.Thr289=)
c.727A= (p.Thr243=)
c.3289A= (p.Thr1097=)
c.4054A= (p.Thr1352=)
c.4036A= (p.Thr1346=)
c.745A= (p.Thr249=)
c.787A= (p.Thr263=)
c.498A=
c.751A= (p.Thr251=)
c.*3960A= (n.*3960A=)
c.471A=
c.868A= (p.Thr290=)
c.490A= (p.Thr164=)
c.493A= (p.Thr165=)
c.5-27001A= (n.5-27001A=)
c.-43-16431A= (n.-43-16431A=)
c.-99+34319A= (n.-99+34319A=)
n.4313A=
n.4354A=
17g.43090953T>ACA10593369BRCA1c.4176A>T (p.Leu1392Phe)
c.4050A>T (p.Leu1350Phe)
c.4173A>T (p.Leu1391Phe)
c.4098A>T (p.Leu1366Phe)
c.864A>T (p.Leu288Phe)
c.726A>T (p.Leu242Phe)
c.3288A>T (p.Leu1096Phe)
c.4053A>T (p.Leu1351Phe)
c.4035A>T (p.Leu1345Phe)
c.744A>T (p.Leu248Phe)
c.786A>T (p.Leu262Phe)
c.497A>T
c.750A>T (p.Leu250Phe)
c.*3959A>T (n.*3959A>T)
c.470A>T
c.867A>T (p.Leu289Phe)
c.489A>T (p.Leu163Phe)
c.492A>T (p.Leu164Phe)
c.5-27002A>T (n.5-27002A>T)
c.-43-16432A>T (n.-43-16432A>T)
c.-99+34318A>T (n.-99+34318A>T)
n.4312A>T
n.4353A>T
17g.43090953T>CCA500122861BRCA1c.4176A>G (p.Leu1392=)
c.4050A>G (p.Leu1350=)
c.4173A>G (p.Leu1391=)
c.4098A>G (p.Leu1366=)
c.864A>G (p.Leu288=)
c.726A>G (p.Leu242=)
c.3288A>G (p.Leu1096=)
c.4053A>G (p.Leu1351=)
c.4035A>G (p.Leu1345=)
c.744A>G (p.Leu248=)
c.786A>G (p.Leu262=)
c.497A>G
c.750A>G (p.Leu250=)
c.*3959A>G (n.*3959A>G)
c.470A>G
c.867A>G (p.Leu289=)
c.489A>G (p.Leu163=)
c.492A>G (p.Leu164=)
c.5-27002A>G (n.5-27002A>G)
c.-43-16432A>G (n.-43-16432A>G)
c.-99+34318A>G (n.-99+34318A>G)
n.4312A>G
n.4353A>G
17g.43090953T>GCA10593370BRCA1c.4176A>C (p.Leu1392Phe)
c.4050A>C (p.Leu1350Phe)
c.4173A>C (p.Leu1391Phe)
c.4098A>C (p.Leu1366Phe)
c.864A>C (p.Leu288Phe)
c.726A>C (p.Leu242Phe)
c.3288A>C (p.Leu1096Phe)
c.4053A>C (p.Leu1351Phe)
c.4035A>C (p.Leu1345Phe)
c.744A>C (p.Leu248Phe)
c.786A>C (p.Leu262Phe)
c.497A>C
c.750A>C (p.Leu250Phe)
c.*3959A>C (n.*3959A>C)
c.470A>C
c.867A>C (p.Leu289Phe)
c.489A>C (p.Leu163Phe)
c.492A>C (p.Leu164Phe)
c.5-27002A>C (n.5-27002A>C)
c.-43-16432A>C (n.-43-16432A>C)
c.-99+34318A>C (n.-99+34318A>C)
n.4312A>C
n.4353A>C
17g.43090953_43090954delinsTACA2260781641BRCA1c.4175_4176delinsTA (p.Leu1392=)
c.4049_4050delinsTA (p.Leu1350=)
c.4172_4173delinsTA (p.Leu1391=)
c.4097_4098delinsTA (p.Leu1366=)
c.863_864delinsTA (p.Leu288=)
c.725_726delinsTA (p.Leu242=)
c.3287_3288delinsTA (p.Leu1096=)
c.4052_4053delinsTA (p.Leu1351=)
c.4034_4035delinsTA (p.Leu1345=)
c.743_744delinsTA (p.Leu248=)
c.785_786delinsTA (p.Leu262=)
c.496_497delinsTA
c.749_750delinsTA (p.Leu250=)
c.*3958_*3959delinsTA (n.*3958_*3959delinsTA)
c.469_470delinsTA
c.866_867delinsTA (p.Leu289=)
c.488_489delinsTA (p.Leu163=)
c.491_492delinsTA (p.Leu164=)
c.5-27003_5-27002delinsTA (n.5-27003_5-27002delinsTA)
c.-43-16433_-43-16432delinsTA (n.-43-16433_-43-16432delinsTA)
c.-99+34317_-99+34318delinsTA (n.-99+34317_-99+34318delinsTA)
n.4311_4312delinsTA
n.4352_4353delinsTA
17g.43090954A=CA2260781642BRCA1c.4175T= (p.Leu1392=)
c.4049T= (p.Leu1350=)
c.4172T= (p.Leu1391=)
c.4097T= (p.Leu1366=)
c.863T= (p.Leu288=)
c.725T= (p.Leu242=)
c.3287T= (p.Leu1096=)
c.4052T= (p.Leu1351=)
c.4034T= (p.Leu1345=)
c.743T= (p.Leu248=)
c.785T= (p.Leu262=)
c.496T=
c.749T= (p.Leu250=)
c.*3958T= (n.*3958T=)
c.469T=
c.866T= (p.Leu289=)
c.488T= (p.Leu163=)
c.491T= (p.Leu164=)
c.5-27003T= (n.5-27003T=)
c.-43-16433T= (n.-43-16433T=)
c.-99+34317T= (n.-99+34317T=)
n.4311T=
n.4352T=
17g.43090954A>CCA10593371BRCA1c.4175T>G (p.Leu1392Ter)
c.4049T>G (p.Leu1350Ter)
c.4172T>G (p.Leu1391Ter)
c.4097T>G (p.Leu1366Ter)
c.863T>G (p.Leu288Ter)
c.725T>G (p.Leu242Ter)
c.3287T>G (p.Leu1096Ter)
c.4052T>G (p.Leu1351Ter)
c.4034T>G (p.Leu1345Ter)
c.743T>G (p.Leu248Ter)
c.785T>G (p.Leu262Ter)
c.496T>G
c.749T>G (p.Leu250Ter)
c.*3958T>G (n.*3958T>G)
c.469T>G
c.866T>G (p.Leu289Ter)
c.488T>G (p.Leu163Ter)
c.491T>G (p.Leu164Ter)
c.5-27003T>G (n.5-27003T>G)
c.-43-16433T>G (n.-43-16433T>G)
c.-99+34317T>G (n.-99+34317T>G)
n.4311T>G
n.4352T>G
17g.43090954A>GCA059506BRCA1c.4175T>C (p.Leu1392Ser)
c.4049T>C (p.Leu1350Ser)
c.4172T>C (p.Leu1391Ser)
c.4097T>C (p.Leu1366Ser)
c.863T>C (p.Leu288Ser)
c.725T>C (p.Leu242Ser)
c.3287T>C (p.Leu1096Ser)
c.4052T>C (p.Leu1351Ser)
c.4034T>C (p.Leu1345Ser)
c.743T>C (p.Leu248Ser)
c.785T>C (p.Leu262Ser)
c.496T>C
c.749T>C (p.Leu250Ser)
c.*3958T>C (n.*3958T>C)
c.469T>C
c.866T>C (p.Leu289Ser)
c.488T>C (p.Leu163Ser)
c.491T>C (p.Leu164Ser)
c.5-27003T>C (n.5-27003T>C)
c.-43-16433T>C (n.-43-16433T>C)
c.-99+34317T>C (n.-99+34317T>C)
n.4311T>C
n.4352T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090954A>TCA10593372BRCA1c.4175T>A (p.Leu1392Ter)
c.4049T>A (p.Leu1350Ter)
c.4172T>A (p.Leu1391Ter)
c.4097T>A (p.Leu1366Ter)
c.863T>A (p.Leu288Ter)
c.725T>A (p.Leu242Ter)
c.3287T>A (p.Leu1096Ter)
c.4052T>A (p.Leu1351Ter)
c.4034T>A (p.Leu1345Ter)
c.743T>A (p.Leu248Ter)
c.785T>A (p.Leu262Ter)
c.496T>A
c.749T>A (p.Leu250Ter)
c.*3958T>A (n.*3958T>A)
c.469T>A
c.866T>A (p.Leu289Ter)
c.488T>A (p.Leu163Ter)
c.491T>A (p.Leu164Ter)
c.5-27003T>A (n.5-27003T>A)
c.-43-16433T>A (n.-43-16433T>A)
c.-99+34317T>A (n.-99+34317T>A)
n.4311T>A
n.4352T>A
 dbSNP
17g.43090957delCA10589683BRCA1c.4175del (p.Leu1392Ter)
c.4049del (p.Leu1350Ter)
c.4172del (p.Leu1391Ter)
c.4097del (p.Leu1366Ter)
c.863del (p.Leu288Ter)
c.725del (p.Leu242Ter)
c.3287del (p.Leu1096Ter)
c.4052del (p.Leu1351Ter)
c.4034del (p.Leu1345Ter)
c.743del (p.Leu248Ter)
c.785del (p.Leu262Ter)
c.496del
c.749del (p.Leu250Ter)
c.*3958del (n.*3958del)
c.469del
c.866del (p.Leu289Ter)
c.488del (p.Leu163Ter)
c.491del (p.Leu164Ter)
c.5-27003del (n.5-27003del)
c.-43-16433del (n.-43-16433del)
c.-99+34317del (n.-99+34317del)
n.4311del
n.4352del
 ClinVar dbSNP
17g.43090955A>CCA10593373BRCA1c.4174T>G (p.Leu1392Val)
c.4048T>G (p.Leu1350Val)
c.4171T>G (p.Leu1391Val)
c.4096T>G (p.Leu1366Val)
c.862T>G (p.Leu288Val)
c.724T>G (p.Leu242Val)
c.3286T>G (p.Leu1096Val)
c.4051T>G (p.Leu1351Val)
c.4033T>G (p.Leu1345Val)
c.742T>G (p.Leu248Val)
c.784T>G (p.Leu262Val)
c.495T>G
c.748T>G (p.Leu250Val)
c.*3957T>G (n.*3957T>G)
c.468T>G
c.865T>G (p.Leu289Val)
c.487T>G (p.Leu163Val)
c.490T>G (p.Leu164Val)
c.5-27004T>G (n.5-27004T>G)
c.-43-16434T>G (n.-43-16434T>G)
c.-99+34316T>G (n.-99+34316T>G)
n.4310T>G
n.4351T>G
17g.43090955A>GCA500122869BRCA1c.4174T>C (p.Leu1392=)
c.4048T>C (p.Leu1350=)
c.4171T>C (p.Leu1391=)
c.4096T>C (p.Leu1366=)
c.862T>C (p.Leu288=)
c.724T>C (p.Leu242=)
c.3286T>C (p.Leu1096=)
c.4051T>C (p.Leu1351=)
c.4033T>C (p.Leu1345=)
c.742T>C (p.Leu248=)
c.784T>C (p.Leu262=)
c.495T>C
c.748T>C (p.Leu250=)
c.*3957T>C (n.*3957T>C)
c.468T>C
c.865T>C (p.Leu289=)
c.487T>C (p.Leu163=)
c.490T>C (p.Leu164=)
c.5-27004T>C (n.5-27004T>C)
c.-43-16434T>C (n.-43-16434T>C)
c.-99+34316T>C (n.-99+34316T>C)
n.4310T>C
n.4351T>C
17g.43090955A>TCA10593374BRCA1c.4174T>A (p.Leu1392Ile)
c.4048T>A (p.Leu1350Ile)
c.4171T>A (p.Leu1391Ile)
c.4096T>A (p.Leu1366Ile)
c.862T>A (p.Leu288Ile)
c.724T>A (p.Leu242Ile)
c.3286T>A (p.Leu1096Ile)
c.4051T>A (p.Leu1351Ile)
c.4033T>A (p.Leu1345Ile)
c.742T>A (p.Leu248Ile)
c.784T>A (p.Leu262Ile)
c.495T>A
c.748T>A (p.Leu250Ile)
c.*3957T>A (n.*3957T>A)
c.468T>A
c.865T>A (p.Leu289Ile)
c.487T>A (p.Leu163Ile)
c.490T>A (p.Leu164Ile)
c.5-27004T>A (n.5-27004T>A)
c.-43-16434T>A (n.-43-16434T>A)
c.-99+34316T>A (n.-99+34316T>A)
n.4310T>A
n.4351T>A
 dbSNP
17g.43090956A>CCA10593375BRCA1c.4173T>G (p.Ile1391Met)
c.4047T>G (p.Ile1349Met)
c.4170T>G (p.Ile1390Met)
c.4095T>G (p.Ile1365Met)
c.861T>G (p.Ile287Met)
c.723T>G (p.Ile241Met)
c.3285T>G (p.Ile1095Met)
c.4050T>G (p.Ile1350Met)
c.4032T>G (p.Ile1344Met)
c.741T>G (p.Ile247Met)
c.783T>G (p.Ile261Met)
c.494T>G
c.747T>G (p.Ile249Met)
c.*3956T>G (n.*3956T>G)
c.467T>G
c.864T>G (p.Ile288Met)
c.486T>G (p.Ile162Met)
c.489T>G (p.Ile163Met)
c.5-27005T>G (n.5-27005T>G)
c.-43-16435T>G (n.-43-16435T>G)
c.-99+34315T>G (n.-99+34315T>G)
n.4309T>G
n.4350T>G
17g.43090956A>GCA500122873BRCA1c.4173T>C (p.Ile1391=)
c.4047T>C (p.Ile1349=)
c.4170T>C (p.Ile1390=)
c.4095T>C (p.Ile1365=)
c.861T>C (p.Ile287=)
c.723T>C (p.Ile241=)
c.3285T>C (p.Ile1095=)
c.4050T>C (p.Ile1350=)
c.4032T>C (p.Ile1344=)
c.741T>C (p.Ile247=)
c.783T>C (p.Ile261=)
c.494T>C
c.747T>C (p.Ile249=)
c.*3956T>C (n.*3956T>C)
c.467T>C
c.864T>C (p.Ile288=)
c.486T>C (p.Ile162=)
c.489T>C (p.Ile163=)
c.5-27005T>C (n.5-27005T>C)
c.-43-16435T>C (n.-43-16435T>C)
c.-99+34315T>C (n.-99+34315T>C)
n.4309T>C
n.4350T>C
17g.43090956A>TCA500122874BRCA1c.4173T>A (p.Ile1391=)
c.4047T>A (p.Ile1349=)
c.4170T>A (p.Ile1390=)
c.4095T>A (p.Ile1365=)
c.861T>A (p.Ile287=)
c.723T>A (p.Ile241=)
c.3285T>A (p.Ile1095=)
c.4050T>A (p.Ile1350=)
c.4032T>A (p.Ile1344=)
c.741T>A (p.Ile247=)
c.783T>A (p.Ile261=)
c.494T>A
c.747T>A (p.Ile249=)
c.*3956T>A (n.*3956T>A)
c.467T>A
c.864T>A (p.Ile288=)
c.486T>A (p.Ile162=)
c.489T>A (p.Ile163=)
c.5-27005T>A (n.5-27005T>A)
c.-43-16435T>A (n.-43-16435T>A)
c.-99+34315T>A (n.-99+34315T>A)
n.4309T>A
n.4350T>A
 dbSNP
17g.43090957A=CA2260781643BRCA1c.4172T= (p.Ile1391=)
c.4046T= (p.Ile1349=)
c.4169T= (p.Ile1390=)
c.4094T= (p.Ile1365=)
c.860T= (p.Ile287=)
c.722T= (p.Ile241=)
c.3284T= (p.Ile1095=)
c.4049T= (p.Ile1350=)
c.4031T= (p.Ile1344=)
c.740T= (p.Ile247=)
c.782T= (p.Ile261=)
c.493T=
c.746T= (p.Ile249=)
c.*3955T= (n.*3955T=)
c.466T=
c.863T= (p.Ile288=)
c.485T= (p.Ile162=)
c.488T= (p.Ile163=)
c.5-27006T= (n.5-27006T=)
c.-43-16436T= (n.-43-16436T=)
c.-99+34314T= (n.-99+34314T=)
n.4308T=
n.4349T=
17g.43090957A>CCA10593376BRCA1c.4172T>G (p.Ile1391Ser)
c.4046T>G (p.Ile1349Ser)
c.4169T>G (p.Ile1390Ser)
c.4094T>G (p.Ile1365Ser)
c.860T>G (p.Ile287Ser)
c.722T>G (p.Ile241Ser)
c.3284T>G (p.Ile1095Ser)
c.4049T>G (p.Ile1350Ser)
c.4031T>G (p.Ile1344Ser)
c.740T>G (p.Ile247Ser)
c.782T>G (p.Ile261Ser)
c.493T>G
c.746T>G (p.Ile249Ser)
c.*3955T>G (n.*3955T>G)
c.466T>G
c.863T>G (p.Ile288Ser)
c.485T>G (p.Ile162Ser)
c.488T>G (p.Ile163Ser)
c.5-27006T>G (n.5-27006T>G)
c.-43-16436T>G (n.-43-16436T>G)
c.-99+34314T>G (n.-99+34314T>G)
n.4308T>G
n.4349T>G
 ClinVar dbSNP
17g.43090957A>GCA002671BRCA1c.4172T>C (p.Ile1391Thr)
c.4046T>C (p.Ile1349Thr)
c.4169T>C (p.Ile1390Thr)
c.4094T>C (p.Ile1365Thr)
c.860T>C (p.Ile287Thr)
c.722T>C (p.Ile241Thr)
c.3284T>C (p.Ile1095Thr)
c.4049T>C (p.Ile1350Thr)
c.4031T>C (p.Ile1344Thr)
c.740T>C (p.Ile247Thr)
c.782T>C (p.Ile261Thr)
c.493T>C
c.746T>C (p.Ile249Thr)
c.*3955T>C (n.*3955T>C)
c.466T>C
c.863T>C (p.Ile288Thr)
c.485T>C (p.Ile162Thr)
c.488T>C (p.Ile163Thr)
c.5-27006T>C (n.5-27006T>C)
c.-43-16436T>C (n.-43-16436T>C)
c.-99+34314T>C (n.-99+34314T>C)
n.4308T>C
n.4349T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090957A>TCA10593377BRCA1c.4172T>A (p.Ile1391Asn)
c.4046T>A (p.Ile1349Asn)
c.4169T>A (p.Ile1390Asn)
c.4094T>A (p.Ile1365Asn)
c.860T>A (p.Ile287Asn)
c.722T>A (p.Ile241Asn)
c.3284T>A (p.Ile1095Asn)
c.4049T>A (p.Ile1350Asn)
c.4031T>A (p.Ile1344Asn)
c.740T>A (p.Ile247Asn)
c.782T>A (p.Ile261Asn)
c.493T>A
c.746T>A (p.Ile249Asn)
c.*3955T>A (n.*3955T>A)
c.466T>A
c.863T>A (p.Ile288Asn)
c.485T>A (p.Ile162Asn)
c.488T>A (p.Ile163Asn)
c.5-27006T>A (n.5-27006T>A)
c.-43-16436T>A (n.-43-16436T>A)
c.-99+34314T>A (n.-99+34314T>A)
n.4308T>A
n.4349T>A
 dbSNP
17g.43090958delCA2573054441BRCA1c.4171del (p.Ile1391PhefsTer2)
c.4045del (p.Ile1349PhefsTer2)
c.4168del (p.Ile1390PhefsTer2)
c.4093del (p.Ile1365PhefsTer2)
c.859del (p.Ile287PhefsTer2)
c.721del (p.Ile241PhefsTer2)
c.3283del (p.Ile1095PhefsTer2)
c.4048del (p.Ile1350PhefsTer2)
c.4030del (p.Ile1344PhefsTer2)
c.739del (p.Ile247PhefsTer2)
c.781del (p.Ile261PhefsTer2)
c.492del
c.745del (p.Ile249PhefsTer2)
c.*3954del (n.*3954del)
c.465del
c.862del (p.Ile288PhefsTer2)
c.484del (p.Ile162PhefsTer2)
c.487del (p.Ile163PhefsTer2)
c.5-27007del (n.5-27007del)
c.-43-16437del (n.-43-16437del)
c.-99+34313del (n.-99+34313del)
n.4307del
n.4348del
 ClinVar dbSNP
17g.43090958T>ACA10593378BRCA1c.4171A>T (p.Ile1391Phe)
c.4045A>T (p.Ile1349Phe)
c.4168A>T (p.Ile1390Phe)
c.4093A>T (p.Ile1365Phe)
c.859A>T (p.Ile287Phe)
c.721A>T (p.Ile241Phe)
c.3283A>T (p.Ile1095Phe)
c.4048A>T (p.Ile1350Phe)
c.4030A>T (p.Ile1344Phe)
c.739A>T (p.Ile247Phe)
c.781A>T (p.Ile261Phe)
c.492A>T
c.745A>T (p.Ile249Phe)
c.*3954A>T (n.*3954A>T)
c.465A>T
c.862A>T (p.Ile288Phe)
c.484A>T (p.Ile162Phe)
c.487A>T (p.Ile163Phe)
c.5-27007A>T (n.5-27007A>T)
c.-43-16437A>T (n.-43-16437A>T)
c.-99+34313A>T (n.-99+34313A>T)
n.4307A>T
n.4348A>T
 dbSNP
17g.43090958T>CCA10593379BRCA1c.4171A>G (p.Ile1391Val)
c.4045A>G (p.Ile1349Val)
c.4168A>G (p.Ile1390Val)
c.4093A>G (p.Ile1365Val)
c.859A>G (p.Ile287Val)
c.721A>G (p.Ile241Val)
c.3283A>G (p.Ile1095Val)
c.4048A>G (p.Ile1350Val)
c.4030A>G (p.Ile1344Val)
c.739A>G (p.Ile247Val)
c.781A>G (p.Ile261Val)
c.492A>G
c.745A>G (p.Ile249Val)
c.*3954A>G (n.*3954A>G)
c.465A>G
c.862A>G (p.Ile288Val)
c.484A>G (p.Ile162Val)
c.487A>G (p.Ile163Val)
c.5-27007A>G (n.5-27007A>G)
c.-43-16437A>G (n.-43-16437A>G)
c.-99+34313A>G (n.-99+34313A>G)
n.4307A>G
n.4348A>G
 ClinVar dbSNP
17g.43090958T>GCA10593380BRCA1c.4171A>C (p.Ile1391Leu)
c.4045A>C (p.Ile1349Leu)
c.4168A>C (p.Ile1390Leu)
c.4093A>C (p.Ile1365Leu)
c.859A>C (p.Ile287Leu)
c.721A>C (p.Ile241Leu)
c.3283A>C (p.Ile1095Leu)
c.4048A>C (p.Ile1350Leu)
c.4030A>C (p.Ile1344Leu)
c.739A>C (p.Ile247Leu)
c.781A>C (p.Ile261Leu)
c.492A>C
c.745A>C (p.Ile249Leu)
c.*3954A>C (n.*3954A>C)
c.465A>C
c.862A>C (p.Ile288Leu)
c.484A>C (p.Ile162Leu)
c.487A>C (p.Ile163Leu)
c.5-27007A>C (n.5-27007A>C)
c.-43-16437A>C (n.-43-16437A>C)
c.-99+34313A>C (n.-99+34313A>C)
n.4307A>C
n.4348A>C
17g.43090958T=CA2260781645BRCA1c.4171A= (p.Ile1391=)
c.4045A= (p.Ile1349=)
c.4168A= (p.Ile1390=)
c.4093A= (p.Ile1365=)
c.859A= (p.Ile287=)
c.721A= (p.Ile241=)
c.3283A= (p.Ile1095=)
c.4048A= (p.Ile1350=)
c.4030A= (p.Ile1344=)
c.739A= (p.Ile247=)
c.781A= (p.Ile261=)
c.492A=
c.745A= (p.Ile249=)
c.*3954A= (n.*3954A=)
c.465A=
c.862A= (p.Ile288=)
c.484A= (p.Ile162=)
c.487A= (p.Ile163=)
c.5-27007A= (n.5-27007A=)
c.-43-16437A= (n.-43-16437A=)
c.-99+34313A= (n.-99+34313A=)
n.4307A=
n.4348A=
17g.43090958_43090962delinsTGTCACA2260781644BRCA1c.4167_4171delinsTGACA (p.Ser1389=)
c.4041_4045delinsTGACA (p.Ser1347=)
c.4164_4168delinsTGACA (p.Ser1388=)
c.4089_4093delinsTGACA (p.Ser1363=)
c.855_859delinsTGACA (p.Ser285=)
c.717_721delinsTGACA (p.Ser239=)
c.3279_3283delinsTGACA (p.Ser1093=)
c.4044_4048delinsTGACA (p.Ser1348=)
c.4026_4030delinsTGACA (p.Ser1342=)
c.735_739delinsTGACA (p.Ser245=)
c.777_781delinsTGACA (p.Ser259=)
c.488_492delinsTGACA
c.741_745delinsTGACA (p.Ser247=)
c.*3950_*3954delinsTGACA (n.*3950_*3954delinsTGACA)
c.461_465delinsTGACA
c.858_862delinsTGACA (p.Ser286=)
c.480_484delinsTGACA (p.Ser160=)
c.483_487delinsTGACA (p.Ser161=)
c.5-27011_5-27007delinsTGACA (n.5-27011_5-27007delinsTGACA)
c.-43-16441_-43-16437delinsTGACA (n.-43-16441_-43-16437delinsTGACA)
c.-99+34309_-99+34313delinsTGACA (n.-99+34309_-99+34313delinsTGACA)
n.4303_4307delinsTGACA
n.4344_4348delinsTGACA
17g.43090959G>ACA500122884BRCA1c.4170C>T (p.Asp1390=)
c.4044C>T (p.Asp1348=)
c.4167C>T (p.Asp1389=)
c.4092C>T (p.Asp1364=)
c.858C>T (p.Asp286=)
c.720C>T (p.Asp240=)
c.3282C>T (p.Asp1094=)
c.4047C>T (p.Asp1349=)
c.4029C>T (p.Asp1343=)
c.738C>T (p.Asp246=)
c.780C>T (p.Asp260=)
c.491C>T
c.744C>T (p.Asp248=)
c.*3953C>T (n.*3953C>T)
c.464C>T
c.861C>T (p.Asp287=)
c.483C>T (p.Asp161=)
c.486C>T (p.Asp162=)
c.5-27008C>T (n.5-27008C>T)
c.-43-16438C>T (n.-43-16438C>T)
c.-99+34312C>T (n.-99+34312C>T)
n.4306C>T
n.4347C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090959G>CCA10593381BRCA1c.4170C>G (p.Asp1390Glu)
c.4044C>G (p.Asp1348Glu)
c.4167C>G (p.Asp1389Glu)
c.4092C>G (p.Asp1364Glu)
c.858C>G (p.Asp286Glu)
c.720C>G (p.Asp240Glu)
c.3282C>G (p.Asp1094Glu)
c.4047C>G (p.Asp1349Glu)
c.4029C>G (p.Asp1343Glu)
c.738C>G (p.Asp246Glu)
c.780C>G (p.Asp260Glu)
c.491C>G
c.744C>G (p.Asp248Glu)
c.*3953C>G (n.*3953C>G)
c.464C>G
c.861C>G (p.Asp287Glu)
c.483C>G (p.Asp161Glu)
c.486C>G (p.Asp162Glu)
c.5-27008C>G (n.5-27008C>G)
c.-43-16438C>G (n.-43-16438C>G)
c.-99+34312C>G (n.-99+34312C>G)
n.4306C>G
n.4347C>G
 dbSNP gnomAD v4
17g.43090959G=CA2260781646BRCA1c.4170C= (p.Asp1390=)
c.4044C= (p.Asp1348=)
c.4167C= (p.Asp1389=)
c.4092C= (p.Asp1364=)
c.858C= (p.Asp286=)
c.720C= (p.Asp240=)
c.3282C= (p.Asp1094=)
c.4047C= (p.Asp1349=)
c.4029C= (p.Asp1343=)
c.738C= (p.Asp246=)
c.780C= (p.Asp260=)
c.491C=
c.744C= (p.Asp248=)
c.*3953C= (n.*3953C=)
c.464C=
c.861C= (p.Asp287=)
c.483C= (p.Asp161=)
c.486C= (p.Asp162=)
c.5-27008C= (n.5-27008C=)
c.-43-16438C= (n.-43-16438C=)
c.-99+34312C= (n.-99+34312C=)
n.4306C=
n.4347C=
17g.43090959G>TCA10593382BRCA1c.4170C>A (p.Asp1390Glu)
c.4044C>A (p.Asp1348Glu)
c.4167C>A (p.Asp1389Glu)
c.4092C>A (p.Asp1364Glu)
c.858C>A (p.Asp286Glu)
c.720C>A (p.Asp240Glu)
c.3282C>A (p.Asp1094Glu)
c.4047C>A (p.Asp1349Glu)
c.4029C>A (p.Asp1343Glu)
c.738C>A (p.Asp246Glu)
c.780C>A (p.Asp260Glu)
c.491C>A
c.744C>A (p.Asp248Glu)
c.*3953C>A (n.*3953C>A)
c.464C>A
c.861C>A (p.Asp287Glu)
c.483C>A (p.Asp161Glu)
c.486C>A (p.Asp162Glu)
c.5-27008C>A (n.5-27008C>A)
c.-43-16438C>A (n.-43-16438C>A)
c.-99+34312C>A (n.-99+34312C>A)
n.4306C>A
n.4347C>A
17g.43090959_43090961delinsGTCCA2260781647BRCA1c.4168_4170delinsGAC (p.Asp1390=)
c.4042_4044delinsGAC (p.Asp1348=)
c.4165_4167delinsGAC (p.Asp1389=)
c.4090_4092delinsGAC (p.Asp1364=)
c.856_858delinsGAC (p.Asp286=)
c.718_720delinsGAC (p.Asp240=)
c.3280_3282delinsGAC (p.Asp1094=)
c.4045_4047delinsGAC (p.Asp1349=)
c.4027_4029delinsGAC (p.Asp1343=)
c.736_738delinsGAC (p.Asp246=)
c.778_780delinsGAC (p.Asp260=)
c.489_491delinsGAC
c.742_744delinsGAC (p.Asp248=)
c.*3951_*3953delinsGAC (n.*3951_*3953delinsGAC)
c.462_464delinsGAC
c.859_861delinsGAC (p.Asp287=)
c.481_483delinsGAC (p.Asp161=)
c.484_486delinsGAC (p.Asp162=)
c.5-27010_5-27008delinsGAC (n.5-27010_5-27008delinsGAC)
c.-43-16440_-43-16438delinsGAC (n.-43-16440_-43-16438delinsGAC)
c.-99+34310_-99+34312delinsGAC (n.-99+34310_-99+34312delinsGAC)
n.4304_4306delinsGAC
n.4345_4347delinsGAC
17g.43090959_43090962delCA002668BRCA1c.4167_4170del (p.Ser1389ArgfsTer3)
c.4041_4044del (p.Ser1347ArgfsTer3)
c.4164_4167del (p.Ser1388ArgfsTer3)
c.4089_4092del (p.Ser1363ArgfsTer3)
c.855_858del (p.Ser285ArgfsTer3)
c.717_720del (p.Ser239ArgfsTer3)
c.3279_3282del (p.Ser1093ArgfsTer3)
c.4044_4047del (p.Ser1348ArgfsTer3)
c.4026_4029del (p.Ser1342ArgfsTer3)
c.735_738del (p.Ser245ArgfsTer3)
c.777_780del (p.Ser259ArgfsTer3)
c.488_491del
c.741_744del (p.Ser247ArgfsTer3)
c.*3950_*3953del (n.*3950_*3953del)
c.461_464del
c.858_861del (p.Ser286ArgfsTer3)
c.480_483del (p.Ser160ArgfsTer3)
c.483_486del (p.Ser161ArgfsTer3)
c.5-27011_5-27008del (n.5-27011_5-27008del)
c.-43-16441_-43-16438del (n.-43-16441_-43-16438del)
c.-99+34309_-99+34312del (n.-99+34309_-99+34312del)
n.4303_4306del
n.4344_4347del
 ClinVar dbSNP
17g.43090960T>ACA10593383BRCA1c.4169A>T (p.Asp1390Val)
c.4043A>T (p.Asp1348Val)
c.4166A>T (p.Asp1389Val)
c.4091A>T (p.Asp1364Val)
c.857A>T (p.Asp286Val)
c.719A>T (p.Asp240Val)
c.3281A>T (p.Asp1094Val)
c.4046A>T (p.Asp1349Val)
c.4028A>T (p.Asp1343Val)
c.737A>T (p.Asp246Val)
c.779A>T (p.Asp260Val)
c.490A>T
c.743A>T (p.Asp248Val)
c.*3952A>T (n.*3952A>T)
c.463A>T
c.860A>T (p.Asp287Val)
c.482A>T (p.Asp161Val)
c.485A>T (p.Asp162Val)
c.5-27009A>T (n.5-27009A>T)
c.-43-16439A>T (n.-43-16439A>T)
c.-99+34311A>T (n.-99+34311A>T)
n.4305A>T
n.4346A>T
 dbSNP
17g.43090960T>CCA10593384BRCA1c.4169A>G (p.Asp1390Gly)
c.4043A>G (p.Asp1348Gly)
c.4166A>G (p.Asp1389Gly)
c.4091A>G (p.Asp1364Gly)
c.857A>G (p.Asp286Gly)
c.719A>G (p.Asp240Gly)
c.3281A>G (p.Asp1094Gly)
c.4046A>G (p.Asp1349Gly)
c.4028A>G (p.Asp1343Gly)
c.737A>G (p.Asp246Gly)
c.779A>G (p.Asp260Gly)
c.490A>G
c.743A>G (p.Asp248Gly)
c.*3952A>G (n.*3952A>G)
c.463A>G
c.860A>G (p.Asp287Gly)
c.482A>G (p.Asp161Gly)
c.485A>G (p.Asp162Gly)
c.5-27009A>G (n.5-27009A>G)
c.-43-16439A>G (n.-43-16439A>G)
c.-99+34311A>G (n.-99+34311A>G)
n.4305A>G
n.4346A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090960T>GCA10593385BRCA1c.4169A>C (p.Asp1390Ala)
c.4043A>C (p.Asp1348Ala)
c.4166A>C (p.Asp1389Ala)
c.4091A>C (p.Asp1364Ala)
c.857A>C (p.Asp286Ala)
c.719A>C (p.Asp240Ala)
c.3281A>C (p.Asp1094Ala)
c.4046A>C (p.Asp1349Ala)
c.4028A>C (p.Asp1343Ala)
c.737A>C (p.Asp246Ala)
c.779A>C (p.Asp260Ala)
c.490A>C
c.743A>C (p.Asp248Ala)
c.*3952A>C (n.*3952A>C)
c.463A>C
c.860A>C (p.Asp287Ala)
c.482A>C (p.Asp161Ala)
c.485A>C (p.Asp162Ala)
c.5-27009A>C (n.5-27009A>C)
c.-43-16439A>C (n.-43-16439A>C)
c.-99+34311A>C (n.-99+34311A>C)
n.4305A>C
n.4346A>C
 dbSNP
17g.43090960T=CA2260781649BRCA1c.4169A= (p.Asp1390=)
c.4043A= (p.Asp1348=)
c.4166A= (p.Asp1389=)
c.4091A= (p.Asp1364=)
c.857A= (p.Asp286=)
c.719A= (p.Asp240=)
c.3281A= (p.Asp1094=)
c.4046A= (p.Asp1349=)
c.4028A= (p.Asp1343=)
c.737A= (p.Asp246=)
c.779A= (p.Asp260=)
c.490A=
c.743A= (p.Asp248=)
c.*3952A= (n.*3952A=)
c.463A=
c.860A= (p.Asp287=)
c.482A= (p.Asp161=)
c.485A= (p.Asp162=)
c.5-27009A= (n.5-27009A=)
c.-43-16439A= (n.-43-16439A=)
c.-99+34311A= (n.-99+34311A=)
n.4305A=
n.4346A=
17g.43090960_43090961delCA658825026BRCA1c.4168_4169del (p.Asp1390HisfsTer13)
c.4042_4043del (p.Asp1348HisfsTer13)
c.4165_4166del (p.Asp1389HisfsTer12)
c.4090_4091del (p.Asp1364HisfsTer13)
c.856_857del (p.Asp286HisfsTer13)
c.718_719del (p.Asp240HisfsTer13)
c.3280_3281del (p.Asp1094HisfsTer13)
c.4045_4046del (p.Asp1349HisfsTer13)
c.4027_4028del (p.Asp1343HisfsTer13)
c.736_737del (p.Asp246HisfsTer12)
c.778_779del (p.Asp260HisfsTer13)
c.489_490del
c.742_743del (p.Asp248HisfsTer13)
c.*3951_*3952del (n.*3951_*3952del)
c.462_463del
c.859_860del (p.Asp287HisfsTer13)
c.481_482del (p.Asp161HisfsTer13)
c.484_485del (p.Asp162HisfsTer13)
c.5-27010_5-27009del (n.5-27010_5-27009del)
c.-43-16440_-43-16439del (n.-43-16440_-43-16439del)
c.-99+34310_-99+34311del (n.-99+34310_-99+34311del)
n.4304_4305del
n.4345_4346del
 ClinVar dbSNP
17g.43090960_43090961dupCA658825025BRCA1c.4168_4169dup (p.Asp1390GlufsTer4)
c.4042_4043dup (p.Asp1348GlufsTer4)
c.4165_4166dup (p.Asp1389GlufsTer4)
c.4090_4091dup (p.Asp1364GlufsTer4)
c.856_857dup (p.Asp286GlufsTer4)
c.718_719dup (p.Asp240GlufsTer4)
c.3280_3281dup (p.Asp1094GlufsTer4)
c.4045_4046dup (p.Asp1349GlufsTer4)
c.4027_4028dup (p.Asp1343GlufsTer4)
c.736_737dup (p.Asp246GlufsTer4)
c.778_779dup (p.Asp260GlufsTer4)
c.489_490dup
c.742_743dup (p.Asp248GlufsTer4)
c.*3951_*3952dup (n.*3951_*3952dup)
c.462_463dup
c.859_860dup (p.Asp287GlufsTer4)
c.481_482dup (p.Asp161GlufsTer4)
c.484_485dup (p.Asp162GlufsTer4)
c.5-27010_5-27009dup (n.5-27010_5-27009dup)
c.-43-16440_-43-16439dup (n.-43-16440_-43-16439dup)
c.-99+34310_-99+34311dup (n.-99+34310_-99+34311dup)
n.4304_4305dup
n.4345_4346dup
 ClinVar dbSNP
17g.43090960_43090962delinsTCACA2260781648BRCA1c.4167_4169delinsTGA (p.Ser1389=)
c.4041_4043delinsTGA (p.Ser1347=)
c.4164_4166delinsTGA (p.Ser1388=)
c.4089_4091delinsTGA (p.Ser1363=)
c.855_857delinsTGA (p.Ser285=)
c.717_719delinsTGA (p.Ser239=)
c.3279_3281delinsTGA (p.Ser1093=)
c.4044_4046delinsTGA (p.Ser1348=)
c.4026_4028delinsTGA (p.Ser1342=)
c.735_737delinsTGA (p.Ser245=)
c.777_779delinsTGA (p.Ser259=)
c.488_490delinsTGA
c.741_743delinsTGA (p.Ser247=)
c.*3950_*3952delinsTGA (n.*3950_*3952delinsTGA)
c.461_463delinsTGA
c.858_860delinsTGA (p.Ser286=)
c.480_482delinsTGA (p.Ser160=)
c.483_485delinsTGA (p.Ser161=)
c.5-27011_5-27009delinsTGA (n.5-27011_5-27009delinsTGA)
c.-43-16441_-43-16439delinsTGA (n.-43-16441_-43-16439delinsTGA)
c.-99+34309_-99+34311delinsTGA (n.-99+34309_-99+34311delinsTGA)
n.4303_4305delinsTGA
n.4344_4346delinsTGA
17g.43090961C>ACA10593386BRCA1c.4168G>T (p.Asp1390Tyr)
c.4042G>T (p.Asp1348Tyr)
c.4165G>T (p.Asp1389Tyr)
c.4090G>T (p.Asp1364Tyr)
c.856G>T (p.Asp286Tyr)
c.718G>T (p.Asp240Tyr)
c.3280G>T (p.Asp1094Tyr)
c.4045G>T (p.Asp1349Tyr)
c.4027G>T (p.Asp1343Tyr)
c.736G>T (p.Asp246Tyr)
c.778G>T (p.Asp260Tyr)
c.489G>T
c.742G>T (p.Asp248Tyr)
c.*3951G>T (n.*3951G>T)
c.462G>T
c.859G>T (p.Asp287Tyr)
c.481G>T (p.Asp161Tyr)
c.484G>T (p.Asp162Tyr)
c.5-27010G>T (n.5-27010G>T)
c.-43-16440G>T (n.-43-16440G>T)
c.-99+34310G>T (n.-99+34310G>T)
n.4304G>T
n.4345G>T
 gnomAD v4
17g.43090961C=CA2260781650BRCA1c.4168G= (p.Asp1390=)
c.4042G= (p.Asp1348=)
c.4165G= (p.Asp1389=)
c.4090G= (p.Asp1364=)
c.856G= (p.Asp286=)
c.718G= (p.Asp240=)
c.3280G= (p.Asp1094=)
c.4045G= (p.Asp1349=)
c.4027G= (p.Asp1343=)
c.736G= (p.Asp246=)
c.778G= (p.Asp260=)
c.489G=
c.742G= (p.Asp248=)
c.*3951G= (n.*3951G=)
c.462G=
c.859G= (p.Asp287=)
c.481G= (p.Asp161=)
c.484G= (p.Asp162=)
c.5-27010G= (n.5-27010G=)
c.-43-16440G= (n.-43-16440G=)
c.-99+34310G= (n.-99+34310G=)
n.4304G=
n.4345G=
17g.43090961C>GCA10593387BRCA1c.4168G>C (p.Asp1390His)
c.4042G>C (p.Asp1348His)
c.4165G>C (p.Asp1389His)
c.4090G>C (p.Asp1364His)
c.856G>C (p.Asp286His)
c.718G>C (p.Asp240His)
c.3280G>C (p.Asp1094His)
c.4045G>C (p.Asp1349His)
c.4027G>C (p.Asp1343His)
c.736G>C (p.Asp246His)
c.778G>C (p.Asp260His)
c.489G>C
c.742G>C (p.Asp248His)
c.*3951G>C (n.*3951G>C)
c.462G>C
c.859G>C (p.Asp287His)
c.481G>C (p.Asp161His)
c.484G>C (p.Asp162His)
c.5-27010G>C (n.5-27010G>C)
c.-43-16440G>C (n.-43-16440G>C)
c.-99+34310G>C (n.-99+34310G>C)
n.4304G>C
n.4345G>C
 dbSNP
17g.43090961C>TCA059498BRCA1c.4168G>A (p.Asp1390Asn)
c.4042G>A (p.Asp1348Asn)
c.4165G>A (p.Asp1389Asn)
c.4090G>A (p.Asp1364Asn)
c.856G>A (p.Asp286Asn)
c.718G>A (p.Asp240Asn)
c.3280G>A (p.Asp1094Asn)
c.4045G>A (p.Asp1349Asn)
c.4027G>A (p.Asp1343Asn)
c.736G>A (p.Asp246Asn)
c.778G>A (p.Asp260Asn)
c.489G>A
c.742G>A (p.Asp248Asn)
c.*3951G>A (n.*3951G>A)
c.462G>A
c.859G>A (p.Asp287Asn)
c.481G>A (p.Asp161Asn)
c.484G>A (p.Asp162Asn)
c.5-27010G>A (n.5-27010G>A)
c.-43-16440G>A (n.-43-16440G>A)
c.-99+34310G>A (n.-99+34310G>A)
n.4304G>A
n.4345G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090961_43090962delinsCACA2260781651BRCA1c.4167_4168delinsTG (p.Ser1389=)
c.4041_4042delinsTG (p.Ser1347=)
c.4164_4165delinsTG (p.Ser1388=)
c.4089_4090delinsTG (p.Ser1363=)
c.855_856delinsTG (p.Ser285=)
c.717_718delinsTG (p.Ser239=)
c.3279_3280delinsTG (p.Ser1093=)
c.4044_4045delinsTG (p.Ser1348=)
c.4026_4027delinsTG (p.Ser1342=)
c.735_736delinsTG (p.Ser245=)
c.777_778delinsTG (p.Ser259=)
c.488_489delinsTG
c.741_742delinsTG (p.Ser247=)
c.*3950_*3951delinsTG (n.*3950_*3951delinsTG)
c.461_462delinsTG
c.858_859delinsTG (p.Ser286=)
c.480_481delinsTG (p.Ser160=)
c.483_484delinsTG (p.Ser161=)
c.5-27011_5-27010delinsTG (n.5-27011_5-27010delinsTG)
c.-43-16441_-43-16440delinsTG (n.-43-16441_-43-16440delinsTG)
c.-99+34309_-99+34310delinsTG (n.-99+34309_-99+34310delinsTG)
n.4303_4304delinsTG
n.4344_4345delinsTG
17g.43090962_43090963delCA002666BRCA1c.4167_4168del (p.Ser1389ArgfsTer14)
c.4041_4042del (p.Ser1347ArgfsTer14)
c.4164_4165del (p.Ser1388ArgfsTer13)
c.4089_4090del (p.Ser1363ArgfsTer14)
c.855_856del (p.Ser285ArgfsTer14)
c.717_718del (p.Ser239ArgfsTer14)
c.3279_3280del (p.Ser1093ArgfsTer14)
c.4044_4045del (p.Ser1348ArgfsTer14)
c.4026_4027del (p.Ser1342ArgfsTer14)
c.735_736del (p.Ser245ArgfsTer13)
c.777_778del (p.Ser259ArgfsTer14)
c.488_489del
c.741_742del (p.Ser247ArgfsTer14)
c.*3950_*3951del (n.*3950_*3951del)
c.461_462del
c.858_859del (p.Ser286ArgfsTer14)
c.480_481del (p.Ser160ArgfsTer14)
c.483_484del (p.Ser161ArgfsTer14)
c.5-27011_5-27010del (n.5-27011_5-27010del)
c.-43-16441_-43-16440del (n.-43-16441_-43-16440del)
c.-99+34309_-99+34310del (n.-99+34309_-99+34310del)
n.4303_4304del
n.4344_4345del
 ClinVar dbSNP
17g.43090961_43090962insCTCA002667BRCA1c.4167_4168insAG (p.Asp1390ArgfsTer4)
c.4041_4042insAG (p.Asp1348ArgfsTer4)
c.4164_4165insAG (p.Asp1389ArgfsTer4)
c.4089_4090insAG (p.Asp1364ArgfsTer4)
c.855_856insAG (p.Asp286ArgfsTer4)
c.717_718insAG (p.Asp240ArgfsTer4)
c.3279_3280insAG (p.Asp1094ArgfsTer4)
c.4044_4045insAG (p.Asp1349ArgfsTer4)
c.4026_4027insAG (p.Asp1343ArgfsTer4)
c.735_736insAG (p.Asp246ArgfsTer4)
c.777_778insAG (p.Asp260ArgfsTer4)
c.488_489insAG
c.741_742insAG (p.Asp248ArgfsTer4)
c.*3950_*3951insAG (n.*3950_*3951insAG)
c.461_462insAG
c.858_859insAG (p.Asp287ArgfsTer4)
c.480_481insAG (p.Asp161ArgfsTer4)
c.483_484insAG (p.Asp162ArgfsTer4)
c.5-27011_5-27010insAG (n.5-27011_5-27010insAG)
c.-43-16441_-43-16440insAG (n.-43-16441_-43-16440insAG)
c.-99+34309_-99+34310insAG (n.-99+34309_-99+34310insAG)
n.4303_4304insAG
n.4344_4345insAG
 ClinVar dbSNP
17g.43090962delCA002669BRCA1c.4167del (p.Ser1389ArgfsTer4)
c.4041del (p.Ser1347ArgfsTer4)
c.4164del (p.Ser1388ArgfsTer4)
c.4089del (p.Ser1363ArgfsTer4)
c.855del (p.Ser285ArgfsTer4)
c.717del (p.Ser239ArgfsTer4)
c.3279del (p.Ser1093ArgfsTer4)
c.4044del (p.Ser1348ArgfsTer4)
c.4026del (p.Ser1342ArgfsTer4)
c.735del (p.Ser245ArgfsTer4)
c.777del (p.Ser259ArgfsTer4)
c.488del
c.741del (p.Ser247ArgfsTer4)
c.*3950del (n.*3950del)
c.461del
c.858del (p.Ser286ArgfsTer4)
c.480del (p.Ser160ArgfsTer4)
c.483del (p.Ser161ArgfsTer4)
c.5-27011del (n.5-27011del)
c.-43-16441del (n.-43-16441del)
c.-99+34309del (n.-99+34309del)
n.4303del
n.4344del
 ClinVar dbSNP
17g.43090962A>CCA10593388BRCA1c.4167T>G (p.Ser1389Arg)
c.4041T>G (p.Ser1347Arg)
c.4164T>G (p.Ser1388Arg)
c.4089T>G (p.Ser1363Arg)
c.855T>G (p.Ser285Arg)
c.717T>G (p.Ser239Arg)
c.3279T>G (p.Ser1093Arg)
c.4044T>G (p.Ser1348Arg)
c.4026T>G (p.Ser1342Arg)
c.735T>G (p.Ser245Arg)
c.777T>G (p.Ser259Arg)
c.488T>G
c.741T>G (p.Ser247Arg)
c.*3950T>G (n.*3950T>G)
c.461T>G
c.858T>G (p.Ser286Arg)
c.480T>G (p.Ser160Arg)
c.483T>G (p.Ser161Arg)
c.5-27011T>G (n.5-27011T>G)
c.-43-16441T>G (n.-43-16441T>G)
c.-99+34309T>G (n.-99+34309T>G)
n.4303T>G
n.4344T>G
17g.43090962A>GCA500122899BRCA1c.4167T>C (p.Ser1389=)
c.4041T>C (p.Ser1347=)
c.4164T>C (p.Ser1388=)
c.4089T>C (p.Ser1363=)
c.855T>C (p.Ser285=)
c.717T>C (p.Ser239=)
c.3279T>C (p.Ser1093=)
c.4044T>C (p.Ser1348=)
c.4026T>C (p.Ser1342=)
c.735T>C (p.Ser245=)
c.777T>C (p.Ser259=)
c.488T>C
c.741T>C (p.Ser247=)
c.*3950T>C (n.*3950T>C)
c.461T>C
c.858T>C (p.Ser286=)
c.480T>C (p.Ser160=)
c.483T>C (p.Ser161=)
c.5-27011T>C (n.5-27011T>C)
c.-43-16441T>C (n.-43-16441T>C)
c.-99+34309T>C (n.-99+34309T>C)
n.4303T>C
n.4344T>C
17g.43090962A>TCA10593389BRCA1c.4167T>A (p.Ser1389Arg)
c.4041T>A (p.Ser1347Arg)
c.4164T>A (p.Ser1388Arg)
c.4089T>A (p.Ser1363Arg)
c.855T>A (p.Ser285Arg)
c.717T>A (p.Ser239Arg)
c.3279T>A (p.Ser1093Arg)
c.4044T>A (p.Ser1348Arg)
c.4026T>A (p.Ser1342Arg)
c.735T>A (p.Ser245Arg)
c.777T>A (p.Ser259Arg)
c.488T>A
c.741T>A (p.Ser247Arg)
c.*3950T>A (n.*3950T>A)
c.461T>A
c.858T>A (p.Ser286Arg)
c.480T>A (p.Ser160Arg)
c.483T>A (p.Ser161Arg)
c.5-27011T>A (n.5-27011T>A)
c.-43-16441T>A (n.-43-16441T>A)
c.-99+34309T>A (n.-99+34309T>A)
n.4303T>A
n.4344T>A
17g.43090962_43090964delinsACTCA2260781653BRCA1c.4165_4167delinsAGT (p.Ser1389=)
c.4039_4041delinsAGT (p.Ser1347=)
c.4162_4164delinsAGT (p.Ser1388=)
c.4087_4089delinsAGT (p.Ser1363=)
c.853_855delinsAGT (p.Ser285=)
c.715_717delinsAGT (p.Ser239=)
c.3277_3279delinsAGT (p.Ser1093=)
c.4042_4044delinsAGT (p.Ser1348=)
c.4024_4026delinsAGT (p.Ser1342=)
c.733_735delinsAGT (p.Ser245=)
c.775_777delinsAGT (p.Ser259=)
c.486_488delinsAGT
c.739_741delinsAGT (p.Ser247=)
c.*3948_*3950delinsAGT (n.*3948_*3950delinsAGT)
c.459_461delinsAGT
c.856_858delinsAGT (p.Ser286=)
c.478_480delinsAGT (p.Ser160=)
c.481_483delinsAGT (p.Ser161=)
c.5-27013_5-27011delinsAGT (n.5-27013_5-27011delinsAGT)
c.-43-16443_-43-16441delinsAGT (n.-43-16443_-43-16441delinsAGT)
c.-99+34307_-99+34309delinsAGT (n.-99+34307_-99+34309delinsAGT)
n.4301_4303delinsAGT
n.4342_4344delinsAGT
17g.43090962_43090966delinsACTCTCA2260781652BRCA1c.4163_4167delinsAGAGT (p.Gln1388=)
c.4037_4041delinsAGAGT (p.Gln1346=)
c.4160_4164delinsAGAGT (p.Gln1387=)
c.4085_4089delinsAGAGT (p.Gln1362=)
c.851_855delinsAGAGT (p.Gln284=)
c.713_717delinsAGAGT (p.Gln238=)
c.3275_3279delinsAGAGT (p.Gln1092=)
c.4040_4044delinsAGAGT (p.Gln1347=)
c.4022_4026delinsAGAGT (p.Gln1341=)
c.731_735delinsAGAGT (p.Gln244=)
c.773_777delinsAGAGT (p.Gln258=)
c.484_488delinsAGAGT
c.737_741delinsAGAGT (p.Gln246=)
c.*3946_*3950delinsAGAGT (n.*3946_*3950delinsAGAGT)
c.457_461delinsAGAGT
c.854_858delinsAGAGT (p.Gln285=)
c.476_480delinsAGAGT (p.Gln159=)
c.479_483delinsAGAGT (p.Gln160=)
c.5-27015_5-27011delinsAGAGT (n.5-27015_5-27011delinsAGAGT)
c.-43-16445_-43-16441delinsAGAGT (n.-43-16445_-43-16441delinsAGAGT)
c.-99+34305_-99+34309delinsAGAGT (n.-99+34305_-99+34309delinsAGAGT)
n.4299_4303delinsAGAGT
n.4340_4344delinsAGAGT
17g.43090963C>ACA10593390BRCA1c.4166G>T (p.Ser1389Ile)
c.4040G>T (p.Ser1347Ile)
c.4163G>T (p.Ser1388Ile)
c.4088G>T (p.Ser1363Ile)
c.854G>T (p.Ser285Ile)
c.716G>T (p.Ser239Ile)
c.3278G>T (p.Ser1093Ile)
c.4043G>T (p.Ser1348Ile)
c.4025G>T (p.Ser1342Ile)
c.734G>T (p.Ser245Ile)
c.776G>T (p.Ser259Ile)
c.487G>T
c.740G>T (p.Ser247Ile)
c.*3949G>T (n.*3949G>T)
c.460G>T
c.857G>T (p.Ser286Ile)
c.479G>T (p.Ser160Ile)
c.482G>T (p.Ser161Ile)
c.5-27012G>T (n.5-27012G>T)
c.-43-16442G>T (n.-43-16442G>T)
c.-99+34308G>T (n.-99+34308G>T)
n.4302G>T
n.4343G>T
 dbSNP
17g.43090963C=CA2260781654BRCA1c.4166G= (p.Ser1389=)
c.4040G= (p.Ser1347=)
c.4163G= (p.Ser1388=)
c.4088G= (p.Ser1363=)
c.854G= (p.Ser285=)
c.716G= (p.Ser239=)
c.3278G= (p.Ser1093=)
c.4043G= (p.Ser1348=)
c.4025G= (p.Ser1342=)
c.734G= (p.Ser245=)
c.776G= (p.Ser259=)
c.487G=
c.740G= (p.Ser247=)
c.*3949G= (n.*3949G=)
c.460G=
c.857G= (p.Ser286=)
c.479G= (p.Ser160=)
c.482G= (p.Ser161=)
c.5-27012G= (n.5-27012G=)
c.-43-16442G= (n.-43-16442G=)
c.-99+34308G= (n.-99+34308G=)
n.4302G=
n.4343G=
17g.43090963C>GCA10593391BRCA1c.4166G>C (p.Ser1389Thr)
c.4040G>C (p.Ser1347Thr)
c.4163G>C (p.Ser1388Thr)
c.4088G>C (p.Ser1363Thr)
c.854G>C (p.Ser285Thr)
c.716G>C (p.Ser239Thr)
c.3278G>C (p.Ser1093Thr)
c.4043G>C (p.Ser1348Thr)
c.4025G>C (p.Ser1342Thr)
c.734G>C (p.Ser245Thr)
c.776G>C (p.Ser259Thr)
c.487G>C
c.740G>C (p.Ser247Thr)
c.*3949G>C (n.*3949G>C)
c.460G>C
c.857G>C (p.Ser286Thr)
c.479G>C (p.Ser160Thr)
c.482G>C (p.Ser161Thr)
c.5-27012G>C (n.5-27012G>C)
c.-43-16442G>C (n.-43-16442G>C)
c.-99+34308G>C (n.-99+34308G>C)
n.4302G>C
n.4343G>C
 dbSNP
17g.43090963C>TCA002665BRCA1c.4166G>A (p.Ser1389Asn)
c.4040G>A (p.Ser1347Asn)
c.4163G>A (p.Ser1388Asn)
c.4088G>A (p.Ser1363Asn)
c.854G>A (p.Ser285Asn)
c.716G>A (p.Ser239Asn)
c.3278G>A (p.Ser1093Asn)
c.4043G>A (p.Ser1348Asn)
c.4025G>A (p.Ser1342Asn)
c.734G>A (p.Ser245Asn)
c.776G>A (p.Ser259Asn)
c.487G>A
c.740G>A (p.Ser247Asn)
c.*3949G>A (n.*3949G>A)
c.460G>A
c.857G>A (p.Ser286Asn)
c.479G>A (p.Ser160Asn)
c.482G>A (p.Ser161Asn)
c.5-27012G>A (n.5-27012G>A)
c.-43-16442G>A (n.-43-16442G>A)
c.-99+34308G>A (n.-99+34308G>A)
n.4302G>A
n.4343G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090963_43090964delinsCTCA2260781655BRCA1c.4165_4166delinsAG (p.Ser1389=)
c.4039_4040delinsAG (p.Ser1347=)
c.4162_4163delinsAG (p.Ser1388=)
c.4087_4088delinsAG (p.Ser1363=)
c.853_854delinsAG (p.Ser285=)
c.715_716delinsAG (p.Ser239=)
c.3277_3278delinsAG (p.Ser1093=)
c.4042_4043delinsAG (p.Ser1348=)
c.4024_4025delinsAG (p.Ser1342=)
c.733_734delinsAG (p.Ser245=)
c.775_776delinsAG (p.Ser259=)
c.486_487delinsAG
c.739_740delinsAG (p.Ser247=)
c.*3948_*3949delinsAG (n.*3948_*3949delinsAG)
c.459_460delinsAG
c.856_857delinsAG (p.Ser286=)
c.478_479delinsAG (p.Ser160=)
c.481_482delinsAG (p.Ser161=)
c.5-27013_5-27012delinsAG (n.5-27013_5-27012delinsAG)
c.-43-16443_-43-16442delinsAG (n.-43-16443_-43-16442delinsAG)
c.-99+34307_-99+34308delinsAG (n.-99+34307_-99+34308delinsAG)
n.4301_4302delinsAG
n.4342_4343delinsAG
17g.43090963_43090966delCA002663BRCA1c.4163_4166del (p.Gln1388LeufsTer4)
c.4037_4040del (p.Gln1346LeufsTer4)
c.4160_4163del (p.Gln1387LeufsTer4)
c.4085_4088del (p.Gln1362LeufsTer4)
c.851_854del (p.Gln284LeufsTer4)
c.713_716del (p.Gln238LeufsTer4)
c.3275_3278del (p.Gln1092LeufsTer4)
c.4040_4043del (p.Gln1347LeufsTer4)
c.4022_4025del (p.Gln1341LeufsTer4)
c.731_734del (p.Gln244LeufsTer4)
c.773_776del (p.Gln258LeufsTer4)
c.484_487del
c.737_740del (p.Gln246LeufsTer4)
c.*3946_*3949del (n.*3946_*3949del)
c.457_460del
c.854_857del (p.Gln285LeufsTer4)
c.476_479del (p.Gln159LeufsTer4)
c.479_482del (p.Gln160LeufsTer4)
c.5-27015_5-27012del (n.5-27015_5-27012del)
c.-43-16445_-43-16442del (n.-43-16445_-43-16442del)
c.-99+34305_-99+34308del (n.-99+34305_-99+34308del)
n.4299_4302del
n.4340_4343del
 ClinVar dbSNP
17g.43090965_43090966dupCA327913BRCA1c.4165_4166dup (p.Ser1389ArgfsTer5)
c.4039_4040dup (p.Ser1347ArgfsTer5)
c.4162_4163dup (p.Ser1388ArgfsTer5)
c.4087_4088dup (p.Ser1363ArgfsTer5)
c.853_854dup (p.Ser285ArgfsTer5)
c.715_716dup (p.Ser239ArgfsTer5)
c.3277_3278dup (p.Ser1093ArgfsTer5)
c.4042_4043dup (p.Ser1348ArgfsTer5)
c.4024_4025dup (p.Ser1342ArgfsTer5)
c.733_734dup (p.Ser245ArgfsTer5)
c.775_776dup (p.Ser259ArgfsTer5)
c.486_487dup
c.739_740dup (p.Ser247ArgfsTer5)
c.*3948_*3949dup (n.*3948_*3949dup)
c.459_460dup
c.856_857dup (p.Ser286ArgfsTer5)
c.478_479dup (p.Ser160ArgfsTer5)
c.481_482dup (p.Ser161ArgfsTer5)
c.5-27013_5-27012dup (n.5-27013_5-27012dup)
c.-43-16443_-43-16442dup (n.-43-16443_-43-16442dup)
c.-99+34307_-99+34308dup (n.-99+34307_-99+34308dup)
n.4301_4302dup
n.4342_4343dup
 ClinVar dbSNP
17g.43090965_43090966delCA002664BRCA1c.4165_4166del (p.Ser1389Ter)
c.4039_4040del (p.Ser1347Ter)
c.4162_4163del (p.Ser1388Ter)
c.4087_4088del (p.Ser1363Ter)
c.853_854del (p.Ser285Ter)
c.715_716del (p.Ser239Ter)
c.3277_3278del (p.Ser1093Ter)
c.4042_4043del (p.Ser1348Ter)
c.4024_4025del (p.Ser1342Ter)
c.733_734del (p.Ser245Ter)
c.775_776del (p.Ser259Ter)
c.486_487del
c.739_740del (p.Ser247Ter)
c.*3948_*3949del (n.*3948_*3949del)
c.459_460del
c.856_857del (p.Ser286Ter)
c.478_479del (p.Ser160Ter)
c.481_482del (p.Ser161Ter)
c.5-27013_5-27012del (n.5-27013_5-27012del)
c.-43-16443_-43-16442del (n.-43-16443_-43-16442del)
c.-99+34307_-99+34308del (n.-99+34307_-99+34308del)
n.4301_4302del
n.4342_4343del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090964delCA913187782BRCA1c.4165del (p.Ser1389ValfsTer4)
c.4039del (p.Ser1347ValfsTer4)
c.4162del (p.Ser1388ValfsTer4)
c.4087del (p.Ser1363ValfsTer4)
c.853del (p.Ser285ValfsTer4)
c.715del (p.Ser239ValfsTer4)
c.3277del (p.Ser1093ValfsTer4)
c.4042del (p.Ser1348ValfsTer4)
c.4024del (p.Ser1342ValfsTer4)
c.733del (p.Ser245ValfsTer4)
c.775del (p.Ser259ValfsTer4)
c.486del
c.739del (p.Ser247ValfsTer4)
c.*3948del (n.*3948del)
c.459del
c.856del (p.Ser286ValfsTer4)
c.478del (p.Ser160ValfsTer4)
c.481del (p.Ser161ValfsTer4)
c.5-27013del (n.5-27013del)
c.-43-16443del (n.-43-16443del)
c.-99+34307del (n.-99+34307del)
n.4301del
n.4342del
 ClinVar dbSNP
17g.43090964T>ACA10593392BRCA1c.4165A>T (p.Ser1389Cys)
c.4039A>T (p.Ser1347Cys)
c.4162A>T (p.Ser1388Cys)
c.4087A>T (p.Ser1363Cys)
c.853A>T (p.Ser285Cys)
c.715A>T (p.Ser239Cys)
c.3277A>T (p.Ser1093Cys)
c.4042A>T (p.Ser1348Cys)
c.4024A>T (p.Ser1342Cys)
c.733A>T (p.Ser245Cys)
c.775A>T (p.Ser259Cys)
c.486A>T
c.739A>T (p.Ser247Cys)
c.*3948A>T (n.*3948A>T)
c.459A>T
c.856A>T (p.Ser286Cys)
c.478A>T (p.Ser160Cys)
c.481A>T (p.Ser161Cys)
c.5-27013A>T (n.5-27013A>T)
c.-43-16443A>T (n.-43-16443A>T)
c.-99+34307A>T (n.-99+34307A>T)
n.4301A>T
n.4342A>T
 dbSNP
17g.43090964T>CCA10593393BRCA1c.4165A>G (p.Ser1389Gly)
c.4039A>G (p.Ser1347Gly)
c.4162A>G (p.Ser1388Gly)
c.4087A>G (p.Ser1363Gly)
c.853A>G (p.Ser285Gly)
c.715A>G (p.Ser239Gly)
c.3277A>G (p.Ser1093Gly)
c.4042A>G (p.Ser1348Gly)
c.4024A>G (p.Ser1342Gly)
c.733A>G (p.Ser245Gly)
c.775A>G (p.Ser259Gly)
c.486A>G
c.739A>G (p.Ser247Gly)
c.*3948A>G (n.*3948A>G)
c.459A>G
c.856A>G (p.Ser286Gly)
c.478A>G (p.Ser160Gly)
c.481A>G (p.Ser161Gly)
c.5-27013A>G (n.5-27013A>G)
c.-43-16443A>G (n.-43-16443A>G)
c.-99+34307A>G (n.-99+34307A>G)
n.4301A>G
n.4342A>G
 dbSNP
17g.43090964T>GCA10593394BRCA1c.4165A>C (p.Ser1389Arg)
c.4039A>C (p.Ser1347Arg)
c.4162A>C (p.Ser1388Arg)
c.4087A>C (p.Ser1363Arg)
c.853A>C (p.Ser285Arg)
c.715A>C (p.Ser239Arg)
c.3277A>C (p.Ser1093Arg)
c.4042A>C (p.Ser1348Arg)
c.4024A>C (p.Ser1342Arg)
c.733A>C (p.Ser245Arg)
c.775A>C (p.Ser259Arg)
c.486A>C
c.739A>C (p.Ser247Arg)
c.*3948A>C (n.*3948A>C)
c.459A>C
c.856A>C (p.Ser286Arg)
c.478A>C (p.Ser160Arg)
c.481A>C (p.Ser161Arg)
c.5-27013A>C (n.5-27013A>C)
c.-43-16443A>C (n.-43-16443A>C)
c.-99+34307A>C (n.-99+34307A>C)
n.4301A>C
n.4342A>C
 ClinVar dbSNP
17g.43090964T=CA2260781656BRCA1c.4165A= (p.Ser1389=)
c.4039A= (p.Ser1347=)
c.4162A= (p.Ser1388=)
c.4087A= (p.Ser1363=)
c.853A= (p.Ser285=)
c.715A= (p.Ser239=)
c.3277A= (p.Ser1093=)
c.4042A= (p.Ser1348=)
c.4024A= (p.Ser1342=)
c.733A= (p.Ser245=)
c.775A= (p.Ser259=)
c.486A=
c.739A= (p.Ser247=)
c.*3948A= (n.*3948A=)
c.459A=
c.856A= (p.Ser286=)
c.478A= (p.Ser160=)
c.481A= (p.Ser161=)
c.5-27013A= (n.5-27013A=)
c.-43-16443A= (n.-43-16443A=)
c.-99+34307A= (n.-99+34307A=)
n.4301A=
n.4342A=
17g.43090964_43090968delinsTCTGACA2260781657BRCA1c.4161_4165delinsTCAGA (p.Ser1387=)
c.4035_4039delinsTCAGA (p.Ser1345=)
c.4158_4162delinsTCAGA (p.Ser1386=)
c.4083_4087delinsTCAGA (p.Ser1361=)
c.849_853delinsTCAGA (p.Ser283=)
c.711_715delinsTCAGA (p.Ser237=)
c.3273_3277delinsTCAGA (p.Ser1091=)
c.4038_4042delinsTCAGA (p.Ser1346=)
c.4020_4024delinsTCAGA (p.Ser1340=)
c.729_733delinsTCAGA (p.Ser243=)
c.771_775delinsTCAGA (p.Ser257=)
c.482_486delinsTCAGA
c.735_739delinsTCAGA (p.Ser245=)
c.*3944_*3948delinsTCAGA (n.*3944_*3948delinsTCAGA)
c.455_459delinsTCAGA
c.852_856delinsTCAGA (p.Ser284=)
c.474_478delinsTCAGA (p.Ser158=)
c.477_481delinsTCAGA (p.Ser159=)
c.5-27017_5-27013delinsTCAGA (n.5-27017_5-27013delinsTCAGA)
c.-43-16447_-43-16443delinsTCAGA (n.-43-16447_-43-16443delinsTCAGA)
c.-99+34303_-99+34307delinsTCAGA (n.-99+34303_-99+34307delinsTCAGA)
n.4297_4301delinsTCAGA
n.4338_4342delinsTCAGA
17g.43090964_43090978delinsTCTGAGAGGATAGCCCA2260781658BRCA1c.4151_4165delinsGGCTATCCTCTCAGA (p.Gly1384=)
c.4025_4039delinsGGCTATCCTCTCAGA (p.Gly1342=)
c.4148_4162delinsGGCTATCCTCTCAGA (p.Gly1383=)
c.4073_4087delinsGGCTATCCTCTCAGA (p.Gly1358=)
c.839_853delinsGGCTATCCTCTCAGA (p.Gly280=)
c.701_715delinsGGCTATCCTCTCAGA (p.Gly234=)
c.3263_3277delinsGGCTATCCTCTCAGA (p.Gly1088=)
c.4028_4042delinsGGCTATCCTCTCAGA (p.Gly1343=)
c.4010_4024delinsGGCTATCCTCTCAGA (p.Gly1337=)
c.719_733delinsGGCTATCCTCTCAGA (p.Gly240=)
c.761_775delinsGGCTATCCTCTCAGA (p.Gly254=)
c.472_486delinsGGCTATCCTCTCAGA
c.725_739delinsGGCTATCCTCTCAGA (p.Gly242=)
c.*3934_*3948delinsGGCTATCCTCTCAGA (n.*3934_*3948delinsGGCTATCCTCTCAGA)
c.445_459delinsGGCTATCCTCTCAGA
c.842_856delinsGGCTATCCTCTCAGA (p.Gly281=)
c.464_478delinsGGCTATCCTCTCAGA (p.Gly155=)
c.467_481delinsGGCTATCCTCTCAGA (p.Gly156=)
c.5-27027_5-27013delinsGGCTATCCTCTCAGA (n.5-27027_5-27013delinsGGCTATCCTCTCAGA)
c.-43-16457_-43-16443delinsGGCTATCCTCTCAGA (n.-43-16457_-43-16443delinsGGCTATCCTCTCAGA)
c.-99+34293_-99+34307delinsGGCTATCCTCTCAGA (n.-99+34293_-99+34307delinsGGCTATCCTCTCAGA)
n.4287_4301delinsGGCTATCCTCTCAGA
n.4328_4342delinsGGCTATCCTCTCAGA
17g.43090965C>ACA10593395BRCA1c.4164G>T (p.Gln1388His)
c.4038G>T (p.Gln1346His)
c.4161G>T (p.Gln1387His)
c.4086G>T (p.Gln1362His)
c.852G>T (p.Gln284His)
c.714G>T (p.Gln238His)
c.3276G>T (p.Gln1092His)
c.4041G>T (p.Gln1347His)
c.4023G>T (p.Gln1341His)
c.732G>T (p.Gln244His)
c.774G>T (p.Gln258His)
c.485G>T
c.738G>T (p.Gln246His)
c.*3947G>T (n.*3947G>T)
c.458G>T
c.855G>T (p.Gln285His)
c.477G>T (p.Gln159His)
c.480G>T (p.Gln160His)
c.5-27014G>T (n.5-27014G>T)
c.-43-16444G>T (n.-43-16444G>T)
c.-99+34306G>T (n.-99+34306G>T)
n.4300G>T
n.4341G>T
 ClinVar dbSNP
17g.43090965C=CA2260781659BRCA1c.4164G= (p.Gln1388=)
c.4038G= (p.Gln1346=)
c.4161G= (p.Gln1387=)
c.4086G= (p.Gln1362=)
c.852G= (p.Gln284=)
c.714G= (p.Gln238=)
c.3276G= (p.Gln1092=)
c.4041G= (p.Gln1347=)
c.4023G= (p.Gln1341=)
c.732G= (p.Gln244=)
c.774G= (p.Gln258=)
c.485G=
c.738G= (p.Gln246=)
c.*3947G= (n.*3947G=)
c.458G=
c.855G= (p.Gln285=)
c.477G= (p.Gln159=)
c.480G= (p.Gln160=)
c.5-27014G= (n.5-27014G=)
c.-43-16444G= (n.-43-16444G=)
c.-99+34306G= (n.-99+34306G=)
n.4300G=
n.4341G=
17g.43090965C>GCA10593396BRCA1c.4164G>C (p.Gln1388His)
c.4038G>C (p.Gln1346His)
c.4161G>C (p.Gln1387His)
c.4086G>C (p.Gln1362His)
c.852G>C (p.Gln284His)
c.714G>C (p.Gln238His)
c.3276G>C (p.Gln1092His)
c.4041G>C (p.Gln1347His)
c.4023G>C (p.Gln1341His)
c.732G>C (p.Gln244His)
c.774G>C (p.Gln258His)
c.485G>C
c.738G>C (p.Gln246His)
c.*3947G>C (n.*3947G>C)
c.458G>C
c.855G>C (p.Gln285His)
c.477G>C (p.Gln159His)
c.480G>C (p.Gln160His)
c.5-27014G>C (n.5-27014G>C)
c.-43-16444G>C (n.-43-16444G>C)
c.-99+34306G>C (n.-99+34306G>C)
n.4300G>C
n.4341G>C
 dbSNP
17g.43090965C>TCA500122919BRCA1c.4164G>A (p.Gln1388=)
c.4038G>A (p.Gln1346=)
c.4161G>A (p.Gln1387=)
c.4086G>A (p.Gln1362=)
c.852G>A (p.Gln284=)
c.714G>A (p.Gln238=)
c.3276G>A (p.Gln1092=)
c.4041G>A (p.Gln1347=)
c.4023G>A (p.Gln1341=)
c.732G>A (p.Gln244=)
c.774G>A (p.Gln258=)
c.485G>A
c.738G>A (p.Gln246=)
c.*3947G>A (n.*3947G>A)
c.458G>A
c.855G>A (p.Gln285=)
c.477G>A (p.Gln159=)
c.480G>A (p.Gln160=)
c.5-27014G>A (n.5-27014G>A)
c.-43-16444G>A (n.-43-16444G>A)
c.-99+34306G>A (n.-99+34306G>A)
n.4300G>A
n.4341G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43090965_43090967delinsCTGCA2260781660BRCA1c.4162_4164delinsCAG (p.Gln1388=)
c.4036_4038delinsCAG (p.Gln1346=)
c.4159_4161delinsCAG (p.Gln1387=)
c.4084_4086delinsCAG (p.Gln1362=)
c.850_852delinsCAG (p.Gln284=)
c.712_714delinsCAG (p.Gln238=)
c.3274_3276delinsCAG (p.Gln1092=)
c.4039_4041delinsCAG (p.Gln1347=)
c.4021_4023delinsCAG (p.Gln1341=)
c.730_732delinsCAG (p.Gln244=)
c.772_774delinsCAG (p.Gln258=)
c.483_485delinsCAG
c.736_738delinsCAG (p.Gln246=)
c.*3945_*3947delinsCAG (n.*3945_*3947delinsCAG)
c.456_458delinsCAG
c.853_855delinsCAG (p.Gln285=)
c.475_477delinsCAG (p.Gln159=)
c.478_480delinsCAG (p.Gln160=)
c.5-27016_5-27014delinsCAG (n.5-27016_5-27014delinsCAG)
c.-43-16446_-43-16444delinsCAG (n.-43-16446_-43-16444delinsCAG)
c.-99+34304_-99+34306delinsCAG (n.-99+34304_-99+34306delinsCAG)
n.4298_4300delinsCAG
n.4339_4341delinsCAG
17g.43090965_43090968delCA915950075BRCA1c.4161_4164del (p.Gln1388ValfsTer4)
c.4035_4038del (p.Gln1346ValfsTer4)
c.4158_4161del (p.Gln1387ValfsTer4)
c.4083_4086del (p.Gln1362ValfsTer4)
c.849_852del (p.Gln284ValfsTer4)
c.711_714del (p.Gln238ValfsTer4)
c.3273_3276del (p.Gln1092ValfsTer4)
c.4038_4041del (p.Gln1347ValfsTer4)
c.4020_4023del (p.Gln1341ValfsTer4)
c.729_732del (p.Gln244ValfsTer4)
c.771_774del (p.Gln258ValfsTer4)
c.482_485del
c.735_738del (p.Gln246ValfsTer4)
c.*3944_*3947del (n.*3944_*3947del)
c.455_458del
c.852_855del (p.Gln285ValfsTer4)
c.474_477del (p.Gln159ValfsTer4)
c.477_480del (p.Gln160ValfsTer4)
c.5-27017_5-27014del (n.5-27017_5-27014del)
c.-43-16447_-43-16444del (n.-43-16447_-43-16444del)
c.-99+34303_-99+34306del (n.-99+34303_-99+34306del)
n.4297_4300del
n.4338_4341del
 ClinVar dbSNP
17g.43090970_43090983delCA919844484BRCA1c.4151_4164del (p.Gly1384GlufsTer2)
c.4025_4038del (p.Gly1342GlufsTer2)
c.4148_4161del (p.Gly1383GlufsTer2)
c.4073_4086del (p.Gly1358GlufsTer2)
c.839_852del (p.Gly280GlufsTer2)
c.701_714del (p.Gly234GlufsTer2)
c.3263_3276del (p.Gly1088GlufsTer2)
c.4028_4041del (p.Gly1343GlufsTer2)
c.4010_4023del (p.Gly1337GlufsTer2)
c.719_732del (p.Gly240GlufsTer2)
c.761_774del (p.Gly254GlufsTer2)
c.472_485del
c.725_738del (p.Gly242GlufsTer2)
c.*3934_*3947del (n.*3934_*3947del)
c.445_458del
c.842_855del (p.Gly281GlufsTer2)
c.464_477del (p.Gly155GlufsTer2)
c.467_480del (p.Gly156GlufsTer2)
c.5-27027_5-27014del (n.5-27027_5-27014del)
c.-43-16457_-43-16444del (n.-43-16457_-43-16444del)
c.-99+34293_-99+34306del (n.-99+34293_-99+34306del)
n.4287_4300del
n.4328_4341del
 dbSNP
17g.43090966T>ACA10593397BRCA1c.4163A>T (p.Gln1388Leu)
c.4037A>T (p.Gln1346Leu)
c.4160A>T (p.Gln1387Leu)
c.4085A>T (p.Gln1362Leu)
c.851A>T (p.Gln284Leu)
c.713A>T (p.Gln238Leu)
c.3275A>T (p.Gln1092Leu)
c.4040A>T (p.Gln1347Leu)
c.4022A>T (p.Gln1341Leu)
c.731A>T (p.Gln244Leu)
c.773A>T (p.Gln258Leu)
c.484A>T
c.737A>T (p.Gln246Leu)
c.*3946A>T (n.*3946A>T)
c.457A>T
c.854A>T (p.Gln285Leu)
c.476A>T (p.Gln159Leu)
c.479A>T (p.Gln160Leu)
c.5-27015A>T (n.5-27015A>T)
c.-43-16445A>T (n.-43-16445A>T)
c.-99+34305A>T (n.-99+34305A>T)
n.4299A>T
n.4340A>T
17g.43090966T>CCA10593398BRCA1c.4163A>G (p.Gln1388Arg)
c.4037A>G (p.Gln1346Arg)
c.4160A>G (p.Gln1387Arg)
c.4085A>G (p.Gln1362Arg)
c.851A>G (p.Gln284Arg)
c.713A>G (p.Gln238Arg)
c.3275A>G (p.Gln1092Arg)
c.4040A>G (p.Gln1347Arg)
c.4022A>G (p.Gln1341Arg)
c.731A>G (p.Gln244Arg)
c.773A>G (p.Gln258Arg)
c.484A>G
c.737A>G (p.Gln246Arg)
c.*3946A>G (n.*3946A>G)
c.457A>G
c.854A>G (p.Gln285Arg)
c.476A>G (p.Gln159Arg)
c.479A>G (p.Gln160Arg)
c.5-27015A>G (n.5-27015A>G)
c.-43-16445A>G (n.-43-16445A>G)
c.-99+34305A>G (n.-99+34305A>G)
n.4299A>G
n.4340A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090966T>GCA10593399BRCA1c.4163A>C (p.Gln1388Pro)
c.4037A>C (p.Gln1346Pro)
c.4160A>C (p.Gln1387Pro)
c.4085A>C (p.Gln1362Pro)
c.851A>C (p.Gln284Pro)
c.713A>C (p.Gln238Pro)
c.3275A>C (p.Gln1092Pro)
c.4040A>C (p.Gln1347Pro)
c.4022A>C (p.Gln1341Pro)
c.731A>C (p.Gln244Pro)
c.773A>C (p.Gln258Pro)
c.484A>C
c.737A>C (p.Gln246Pro)
c.*3946A>C (n.*3946A>C)
c.457A>C
c.854A>C (p.Gln285Pro)
c.476A>C (p.Gln159Pro)
c.479A>C (p.Gln160Pro)
c.5-27015A>C (n.5-27015A>C)
c.-43-16445A>C (n.-43-16445A>C)
c.-99+34305A>C (n.-99+34305A>C)
n.4299A>C
n.4340A>C
17g.43090966T=CA2260781662BRCA1c.4163A= (p.Gln1388=)
c.4037A= (p.Gln1346=)
c.4160A= (p.Gln1387=)
c.4085A= (p.Gln1362=)
c.851A= (p.Gln284=)
c.713A= (p.Gln238=)
c.3275A= (p.Gln1092=)
c.4040A= (p.Gln1347=)
c.4022A= (p.Gln1341=)
c.731A= (p.Gln244=)
c.773A= (p.Gln258=)
c.484A=
c.737A= (p.Gln246=)
c.*3946A= (n.*3946A=)
c.457A=
c.854A= (p.Gln285=)
c.476A= (p.Gln159=)
c.479A= (p.Gln160=)
c.5-27015A= (n.5-27015A=)
c.-43-16445A= (n.-43-16445A=)
c.-99+34305A= (n.-99+34305A=)
n.4299A=
n.4340A=
17g.43090966dupCA002662BRCA1c.4163dup (p.Ser1389GlufsTer2)
c.4037dup (p.Ser1347GlufsTer2)
c.4160dup (p.Ser1388GlufsTer2)
c.4085dup (p.Ser1363GlufsTer2)
c.851dup (p.Ser285GlufsTer2)
c.713dup (p.Ser239GlufsTer2)
c.3275dup (p.Ser1093GlufsTer2)
c.4040dup (p.Ser1348GlufsTer2)
c.4022dup (p.Ser1342GlufsTer2)
c.731dup (p.Ser245GlufsTer2)
c.773dup (p.Ser259GlufsTer2)
c.484dup
c.737dup (p.Ser247GlufsTer2)
c.*3946dup (n.*3946dup)
c.457dup
c.854dup (p.Ser286GlufsTer2)
c.476dup (p.Ser160GlufsTer2)
c.479dup (p.Ser161GlufsTer2)
c.5-27015dup (n.5-27015dup)
c.-43-16445dup (n.-43-16445dup)
c.-99+34305dup (n.-99+34305dup)
n.4299dup
n.4340dup
 ClinVar dbSNP
17g.43090966_43090967delCA10589684BRCA1c.4162_4163del (p.Gln1388GlufsTer2)
c.4036_4037del (p.Gln1346GlufsTer2)
c.4159_4160del (p.Gln1387GlufsTer2)
c.4084_4085del (p.Gln1362GlufsTer2)
c.850_851del (p.Gln284GlufsTer2)
c.712_713del (p.Gln238GlufsTer2)
c.3274_3275del (p.Gln1092GlufsTer2)
c.4039_4040del (p.Gln1347GlufsTer2)
c.4021_4022del (p.Gln1341GlufsTer2)
c.730_731del (p.Gln244GlufsTer2)
c.772_773del (p.Gln258GlufsTer2)
c.483_484del
c.736_737del (p.Gln246GlufsTer2)
c.*3945_*3946del (n.*3945_*3946del)
c.456_457del
c.853_854del (p.Gln285GlufsTer2)
c.475_476del (p.Gln159GlufsTer2)
c.478_479del (p.Gln160GlufsTer2)
c.5-27016_5-27015del (n.5-27016_5-27015del)
c.-43-16446_-43-16445del (n.-43-16446_-43-16445del)
c.-99+34304_-99+34305del (n.-99+34304_-99+34305del)
n.4298_4299del
n.4339_4340del
 ClinVar dbSNP
17g.43090966_43090967delinsTGCA2260781661BRCA1c.4162_4163delinsCA (p.Gln1388=)
c.4036_4037delinsCA (p.Gln1346=)
c.4159_4160delinsCA (p.Gln1387=)
c.4084_4085delinsCA (p.Gln1362=)
c.850_851delinsCA (p.Gln284=)
c.712_713delinsCA (p.Gln238=)
c.3274_3275delinsCA (p.Gln1092=)
c.4039_4040delinsCA (p.Gln1347=)
c.4021_4022delinsCA (p.Gln1341=)
c.730_731delinsCA (p.Gln244=)
c.772_773delinsCA (p.Gln258=)
c.483_484delinsCA
c.736_737delinsCA (p.Gln246=)
c.*3945_*3946delinsCA (n.*3945_*3946delinsCA)
c.456_457delinsCA
c.853_854delinsCA (p.Gln285=)
c.475_476delinsCA (p.Gln159=)
c.478_479delinsCA (p.Gln160=)
c.5-27016_5-27015delinsCA (n.5-27016_5-27015delinsCA)
c.-43-16446_-43-16445delinsCA (n.-43-16446_-43-16445delinsCA)
c.-99+34304_-99+34305delinsCA (n.-99+34304_-99+34305delinsCA)
n.4298_4299delinsCA
n.4339_4340delinsCA
17g.43090966_43090968delinsTGACA2260781664BRCA1c.4161_4163delinsTCA (p.Ser1387=)
c.4035_4037delinsTCA (p.Ser1345=)
c.4158_4160delinsTCA (p.Ser1386=)
c.4083_4085delinsTCA (p.Ser1361=)
c.849_851delinsTCA (p.Ser283=)
c.711_713delinsTCA (p.Ser237=)
c.3273_3275delinsTCA (p.Ser1091=)
c.4038_4040delinsTCA (p.Ser1346=)
c.4020_4022delinsTCA (p.Ser1340=)
c.729_731delinsTCA (p.Ser243=)
c.771_773delinsTCA (p.Ser257=)
c.482_484delinsTCA
c.735_737delinsTCA (p.Ser245=)
c.*3944_*3946delinsTCA (n.*3944_*3946delinsTCA)
c.455_457delinsTCA
c.852_854delinsTCA (p.Ser284=)
c.474_476delinsTCA (p.Ser158=)
c.477_479delinsTCA (p.Ser159=)
c.5-27017_5-27015delinsTCA (n.5-27017_5-27015delinsTCA)
c.-43-16447_-43-16445delinsTCA (n.-43-16447_-43-16445delinsTCA)
c.-99+34303_-99+34305delinsTCA (n.-99+34303_-99+34305delinsTCA)
n.4297_4299delinsTCA
n.4338_4340delinsTCA
17g.43090966_43090971delinsTGAGAGCA2260781663BRCA1c.4158_4163delinsCTCTCA (p.Ser1386=)
c.4032_4037delinsCTCTCA (p.Ser1344=)
c.4155_4160delinsCTCTCA (p.Ser1385=)
c.4080_4085delinsCTCTCA (p.Ser1360=)
c.846_851delinsCTCTCA (p.Ser282=)
c.708_713delinsCTCTCA (p.Ser236=)
c.3270_3275delinsCTCTCA (p.Ser1090=)
c.4035_4040delinsCTCTCA (p.Ser1345=)
c.4017_4022delinsCTCTCA (p.Ser1339=)
c.726_731delinsCTCTCA (p.Ser242=)
c.768_773delinsCTCTCA (p.Ser256=)
c.479_484delinsCTCTCA
c.732_737delinsCTCTCA (p.Ser244=)
c.*3941_*3946delinsCTCTCA (n.*3941_*3946delinsCTCTCA)
c.452_457delinsCTCTCA
c.849_854delinsCTCTCA (p.Ser283=)
c.471_476delinsCTCTCA (p.Ser157=)
c.474_479delinsCTCTCA (p.Ser158=)
c.5-27020_5-27015delinsCTCTCA (n.5-27020_5-27015delinsCTCTCA)
c.-43-16450_-43-16445delinsCTCTCA (n.-43-16450_-43-16445delinsCTCTCA)
c.-99+34300_-99+34305delinsCTCTCA (n.-99+34300_-99+34305delinsCTCTCA)
n.4294_4299delinsCTCTCA
n.4335_4340delinsCTCTCA
17g.43090967delCA919844485BRCA1c.4162del (p.Gln1388ArgfsTer5)
c.4036del (p.Gln1346ArgfsTer5)
c.4159del (p.Gln1387ArgfsTer5)
c.4084del (p.Gln1362ArgfsTer5)
c.850del (p.Gln284ArgfsTer5)
c.712del (p.Gln238ArgfsTer5)
c.3274del (p.Gln1092ArgfsTer5)
c.4039del (p.Gln1347ArgfsTer5)
c.4021del (p.Gln1341ArgfsTer5)
c.730del (p.Gln244ArgfsTer5)
c.772del (p.Gln258ArgfsTer5)
c.483del
c.736del (p.Gln246ArgfsTer5)
c.*3945del (n.*3945del)
c.456del
c.853del (p.Gln285ArgfsTer5)
c.475del (p.Gln159ArgfsTer5)
c.478del (p.Gln160ArgfsTer5)
c.5-27016del (n.5-27016del)
c.-43-16446del (n.-43-16446del)
c.-99+34304del (n.-99+34304del)
n.4298del
n.4339del
 dbSNP
17g.43090967G>ACA10580534BRCA1c.4162C>T (p.Gln1388Ter)
c.4036C>T (p.Gln1346Ter)
c.4159C>T (p.Gln1387Ter)
c.4084C>T (p.Gln1362Ter)
c.850C>T (p.Gln284Ter)
c.712C>T (p.Gln238Ter)
c.3274C>T (p.Gln1092Ter)
c.4039C>T (p.Gln1347Ter)
c.4021C>T (p.Gln1341Ter)
c.730C>T (p.Gln244Ter)
c.772C>T (p.Gln258Ter)
c.483C>T
c.736C>T (p.Gln246Ter)
c.*3945C>T (n.*3945C>T)
c.456C>T
c.853C>T (p.Gln285Ter)
c.475C>T (p.Gln159Ter)
c.478C>T (p.Gln160Ter)
c.5-27016C>T (n.5-27016C>T)
c.-43-16446C>T (n.-43-16446C>T)
c.-99+34304C>T (n.-99+34304C>T)
n.4298C>T
n.4339C>T
 ClinVar dbSNP
17g.43090967G>CCA10593400BRCA1c.4162C>G (p.Gln1388Glu)
c.4036C>G (p.Gln1346Glu)
c.4159C>G (p.Gln1387Glu)
c.4084C>G (p.Gln1362Glu)
c.850C>G (p.Gln284Glu)
c.712C>G (p.Gln238Glu)
c.3274C>G (p.Gln1092Glu)
c.4039C>G (p.Gln1347Glu)
c.4021C>G (p.Gln1341Glu)
c.730C>G (p.Gln244Glu)
c.772C>G (p.Gln258Glu)
c.483C>G
c.736C>G (p.Gln246Glu)
c.*3945C>G (n.*3945C>G)
c.456C>G
c.853C>G (p.Gln285Glu)
c.475C>G (p.Gln159Glu)
c.478C>G (p.Gln160Glu)
c.5-27016C>G (n.5-27016C>G)
c.-43-16446C>G (n.-43-16446C>G)
c.-99+34304C>G (n.-99+34304C>G)
n.4298C>G
n.4339C>G
 dbSNP COSMIC COSMIC
17g.43090967G=CA2260781665BRCA1c.4162C= (p.Gln1388=)
c.4036C= (p.Gln1346=)
c.4159C= (p.Gln1387=)
c.4084C= (p.Gln1362=)
c.850C= (p.Gln284=)
c.712C= (p.Gln238=)
c.3274C= (p.Gln1092=)
c.4039C= (p.Gln1347=)
c.4021C= (p.Gln1341=)
c.730C= (p.Gln244=)
c.772C= (p.Gln258=)
c.483C=
c.736C= (p.Gln246=)
c.*3945C= (n.*3945C=)
c.456C=
c.853C= (p.Gln285=)
c.475C= (p.Gln159=)
c.478C= (p.Gln160=)
c.5-27016C= (n.5-27016C=)
c.-43-16446C= (n.-43-16446C=)
c.-99+34304C= (n.-99+34304C=)
n.4298C=
n.4339C=
17g.43090967G>TCA10593401BRCA1c.4162C>A (p.Gln1388Lys)
c.4036C>A (p.Gln1346Lys)
c.4159C>A (p.Gln1387Lys)
c.4084C>A (p.Gln1362Lys)
c.850C>A (p.Gln284Lys)
c.712C>A (p.Gln238Lys)
c.3274C>A (p.Gln1092Lys)
c.4039C>A (p.Gln1347Lys)
c.4021C>A (p.Gln1341Lys)
c.730C>A (p.Gln244Lys)
c.772C>A (p.Gln258Lys)
c.483C>A
c.736C>A (p.Gln246Lys)
c.*3945C>A (n.*3945C>A)
c.456C>A
c.853C>A (p.Gln285Lys)
c.475C>A (p.Gln159Lys)
c.478C>A (p.Gln160Lys)
c.5-27016C>A (n.5-27016C>A)
c.-43-16446C>A (n.-43-16446C>A)
c.-99+34304C>A (n.-99+34304C>A)
n.4298C>A
n.4339C>A
 ClinVar dbSNP
17g.43090970_43090971dupCA915950076BRCA1c.4161_4162dup (p.Gln1388LeufsTer6)
c.4035_4036dup (p.Gln1346LeufsTer6)
c.4158_4159dup (p.Gln1387LeufsTer6)
c.4083_4084dup (p.Gln1362LeufsTer6)
c.849_850dup (p.Gln284LeufsTer6)
c.711_712dup (p.Gln238LeufsTer6)
c.3273_3274dup (p.Gln1092LeufsTer6)
c.4038_4039dup (p.Gln1347LeufsTer6)
c.4020_4021dup (p.Gln1341LeufsTer6)
c.729_730dup (p.Gln244LeufsTer6)
c.771_772dup (p.Gln258LeufsTer6)
c.482_483dup
c.735_736dup (p.Gln246LeufsTer6)
c.*3944_*3945dup (n.*3944_*3945dup)
c.455_456dup
c.852_853dup (p.Gln285LeufsTer6)
c.474_475dup (p.Gln159LeufsTer6)
c.477_478dup (p.Gln160LeufsTer6)
c.5-27017_5-27016dup (n.5-27017_5-27016dup)
c.-43-16447_-43-16446dup (n.-43-16447_-43-16446dup)
c.-99+34303_-99+34304dup (n.-99+34303_-99+34304dup)
n.4297_4298dup
n.4338_4339dup
 ClinVar dbSNP
17g.43090970_43090971delCA002661BRCA1c.4161_4162del (p.Gln1388GlufsTer2)
c.4035_4036del (p.Gln1346GlufsTer2)
c.4158_4159del (p.Gln1387GlufsTer2)
c.4083_4084del (p.Gln1362GlufsTer2)
c.849_850del (p.Gln284GlufsTer2)
c.711_712del (p.Gln238GlufsTer2)
c.3273_3274del (p.Gln1092GlufsTer2)
c.4038_4039del (p.Gln1347GlufsTer2)
c.4020_4021del (p.Gln1341GlufsTer2)
c.729_730del (p.Gln244GlufsTer2)
c.771_772del (p.Gln258GlufsTer2)
c.482_483del
c.735_736del (p.Gln246GlufsTer2)
c.*3944_*3945del (n.*3944_*3945del)
c.455_456del
c.852_853del (p.Gln285GlufsTer2)
c.474_475del (p.Gln159GlufsTer2)
c.477_478del (p.Gln160GlufsTer2)
c.5-27017_5-27016del (n.5-27017_5-27016del)
c.-43-16447_-43-16446del (n.-43-16447_-43-16446del)
c.-99+34303_-99+34304del (n.-99+34303_-99+34304del)
n.4297_4298del
n.4338_4339del
 ClinVar dbSNP
17g.43090969_43090973delCA002659BRCA1c.4158_4162del (p.Ser1387GlufsTer2)
c.4032_4036del (p.Ser1345GlufsTer2)
c.4155_4159del (p.Ser1386GlufsTer2)
c.4080_4084del (p.Ser1361GlufsTer2)
c.846_850del (p.Ser283GlufsTer2)
c.708_712del (p.Ser237GlufsTer2)
c.3270_3274del (p.Ser1091GlufsTer2)
c.4035_4039del (p.Ser1346GlufsTer2)
c.4017_4021del (p.Ser1340GlufsTer2)
c.726_730del (p.Ser243GlufsTer2)
c.768_772del (p.Ser257GlufsTer2)
c.479_483del
c.732_736del (p.Ser245GlufsTer2)
c.*3941_*3945del (n.*3941_*3945del)
c.452_456del
c.849_853del (p.Ser284GlufsTer2)
c.471_475del (p.Ser158GlufsTer2)
c.474_478del (p.Ser159GlufsTer2)
c.5-27020_5-27016del (n.5-27020_5-27016del)
c.-43-16450_-43-16446del (n.-43-16450_-43-16446del)
c.-99+34300_-99+34304del (n.-99+34300_-99+34304del)
n.4294_4298del
n.4335_4339del
 ClinVar dbSNP
17g.43090968A=CA2260781666BRCA1c.4161T= (p.Ser1387=)
c.4035T= (p.Ser1345=)
c.4158T= (p.Ser1386=)
c.4083T= (p.Ser1361=)
c.849T= (p.Ser283=)
c.711T= (p.Ser237=)
c.3273T= (p.Ser1091=)
c.4038T= (p.Ser1346=)
c.4020T= (p.Ser1340=)
c.729T= (p.Ser243=)
c.771T= (p.Ser257=)
c.482T=
c.735T= (p.Ser245=)
c.*3944T= (n.*3944T=)
c.455T=
c.852T= (p.Ser284=)
c.474T= (p.Ser158=)
c.477T= (p.Ser159=)
c.5-27017T= (n.5-27017T=)
c.-43-16447T= (n.-43-16447T=)
c.-99+34303T= (n.-99+34303T=)
n.4297T=
n.4338T=
17g.43090968A>CCA500122937BRCA1c.4161T>G (p.Ser1387=)
c.4035T>G (p.Ser1345=)
c.4158T>G (p.Ser1386=)
c.4083T>G (p.Ser1361=)
c.849T>G (p.Ser283=)
c.711T>G (p.Ser237=)
c.3273T>G (p.Ser1091=)
c.4038T>G (p.Ser1346=)
c.4020T>G (p.Ser1340=)
c.729T>G (p.Ser243=)
c.771T>G (p.Ser257=)
c.482T>G
c.735T>G (p.Ser245=)
c.*3944T>G (n.*3944T>G)
c.455T>G
c.852T>G (p.Ser284=)
c.474T>G (p.Ser158=)
c.477T>G (p.Ser159=)
c.5-27017T>G (n.5-27017T>G)
c.-43-16447T>G (n.-43-16447T>G)
c.-99+34303T>G (n.-99+34303T>G)
n.4297T>G
n.4338T>G
17g.43090968A>GCA500122939BRCA1c.4161T>C (p.Ser1387=)
c.4035T>C (p.Ser1345=)
c.4158T>C (p.Ser1386=)
c.4083T>C (p.Ser1361=)
c.849T>C (p.Ser283=)
c.711T>C (p.Ser237=)
c.3273T>C (p.Ser1091=)
c.4038T>C (p.Ser1346=)
c.4020T>C (p.Ser1340=)
c.729T>C (p.Ser243=)
c.771T>C (p.Ser257=)
c.482T>C
c.735T>C (p.Ser245=)
c.*3944T>C (n.*3944T>C)
c.455T>C
c.852T>C (p.Ser284=)
c.474T>C (p.Ser158=)
c.477T>C (p.Ser159=)
c.5-27017T>C (n.5-27017T>C)
c.-43-16447T>C (n.-43-16447T>C)
c.-99+34303T>C (n.-99+34303T>C)
n.4297T>C
n.4338T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090968A>TCA500122940BRCA1c.4161T>A (p.Ser1387=)
c.4035T>A (p.Ser1345=)
c.4158T>A (p.Ser1386=)
c.4083T>A (p.Ser1361=)
c.849T>A (p.Ser283=)
c.711T>A (p.Ser237=)
c.3273T>A (p.Ser1091=)
c.4038T>A (p.Ser1346=)
c.4020T>A (p.Ser1340=)
c.729T>A (p.Ser243=)
c.771T>A (p.Ser257=)
c.482T>A
c.735T>A (p.Ser245=)
c.*3944T>A (n.*3944T>A)
c.455T>A
c.852T>A (p.Ser284=)
c.474T>A (p.Ser158=)
c.477T>A (p.Ser159=)
c.5-27017T>A (n.5-27017T>A)
c.-43-16447T>A (n.-43-16447T>A)
c.-99+34303T>A (n.-99+34303T>A)
n.4297T>A
n.4338T>A
 dbSNP
17g.43090969G>ACA10593402BRCA1c.4160C>T (p.Ser1387Phe)
c.4034C>T (p.Ser1345Phe)
c.4157C>T (p.Ser1386Phe)
c.4082C>T (p.Ser1361Phe)
c.848C>T (p.Ser283Phe)
c.710C>T (p.Ser237Phe)
c.3272C>T (p.Ser1091Phe)
c.4037C>T (p.Ser1346Phe)
c.4019C>T (p.Ser1340Phe)
c.728C>T (p.Ser243Phe)
c.770C>T (p.Ser257Phe)
c.481C>T
c.734C>T (p.Ser245Phe)
c.*3943C>T (n.*3943C>T)
c.454C>T
c.851C>T (p.Ser284Phe)
c.473C>T (p.Ser158Phe)
c.476C>T (p.Ser159Phe)
c.5-27018C>T (n.5-27018C>T)
c.-43-16448C>T (n.-43-16448C>T)
c.-99+34302C>T (n.-99+34302C>T)
n.4296C>T
n.4337C>T
 dbSNP
17g.43090969G>CCA10593403BRCA1c.4160C>G (p.Ser1387Cys)
c.4034C>G (p.Ser1345Cys)
c.4157C>G (p.Ser1386Cys)
c.4082C>G (p.Ser1361Cys)
c.848C>G (p.Ser283Cys)
c.710C>G (p.Ser237Cys)
c.3272C>G (p.Ser1091Cys)
c.4037C>G (p.Ser1346Cys)
c.4019C>G (p.Ser1340Cys)
c.728C>G (p.Ser243Cys)
c.770C>G (p.Ser257Cys)
c.481C>G
c.734C>G (p.Ser245Cys)
c.*3943C>G (n.*3943C>G)
c.454C>G
c.851C>G (p.Ser284Cys)
c.473C>G (p.Ser158Cys)
c.476C>G (p.Ser159Cys)
c.5-27018C>G (n.5-27018C>G)
c.-43-16448C>G (n.-43-16448C>G)
c.-99+34302C>G (n.-99+34302C>G)
n.4296C>G
n.4337C>G
 ClinVar dbSNP
17g.43090969G>TCA10593404BRCA1c.4160C>A (p.Ser1387Tyr)
c.4034C>A (p.Ser1345Tyr)
c.4157C>A (p.Ser1386Tyr)
c.4082C>A (p.Ser1361Tyr)
c.848C>A (p.Ser283Tyr)
c.710C>A (p.Ser237Tyr)
c.3272C>A (p.Ser1091Tyr)
c.4037C>A (p.Ser1346Tyr)
c.4019C>A (p.Ser1340Tyr)
c.728C>A (p.Ser243Tyr)
c.770C>A (p.Ser257Tyr)
c.481C>A
c.734C>A (p.Ser245Tyr)
c.*3943C>A (n.*3943C>A)
c.454C>A
c.851C>A (p.Ser284Tyr)
c.473C>A (p.Ser158Tyr)
c.476C>A (p.Ser159Tyr)
c.5-27018C>A (n.5-27018C>A)
c.-43-16448C>A (n.-43-16448C>A)
c.-99+34302C>A (n.-99+34302C>A)
n.4296C>A
n.4337C>A
 dbSNP
17g.43090970A=CA2260781667BRCA1c.4159T= (p.Ser1387=)
c.4033T= (p.Ser1345=)
c.4156T= (p.Ser1386=)
c.4081T= (p.Ser1361=)
c.847T= (p.Ser283=)
c.709T= (p.Ser237=)
c.3271T= (p.Ser1091=)
c.4036T= (p.Ser1346=)
c.4018T= (p.Ser1340=)
c.727T= (p.Ser243=)
c.769T= (p.Ser257=)
c.480T=
c.733T= (p.Ser245=)
c.*3942T= (n.*3942T=)
c.453T=
c.850T= (p.Ser284=)
c.472T= (p.Ser158=)
c.475T= (p.Ser159=)
c.5-27019T= (n.5-27019T=)
c.-43-16449T= (n.-43-16449T=)
c.-99+34301T= (n.-99+34301T=)
n.4295T=
n.4336T=
17g.43090970A>CCA10593405BRCA1c.4159T>G (p.Ser1387Ala)
c.4033T>G (p.Ser1345Ala)
c.4156T>G (p.Ser1386Ala)
c.4081T>G (p.Ser1361Ala)
c.847T>G (p.Ser283Ala)
c.709T>G (p.Ser237Ala)
c.3271T>G (p.Ser1091Ala)
c.4036T>G (p.Ser1346Ala)
c.4018T>G (p.Ser1340Ala)
c.727T>G (p.Ser243Ala)
c.769T>G (p.Ser257Ala)
c.480T>G
c.733T>G (p.Ser245Ala)
c.*3942T>G (n.*3942T>G)
c.453T>G
c.850T>G (p.Ser284Ala)
c.472T>G (p.Ser158Ala)
c.475T>G (p.Ser159Ala)
c.5-27019T>G (n.5-27019T>G)
c.-43-16449T>G (n.-43-16449T>G)
c.-99+34301T>G (n.-99+34301T>G)
n.4295T>G
n.4336T>G
17g.43090970A>GCA10575944BRCA1c.4159T>C (p.Ser1387Pro)
c.4033T>C (p.Ser1345Pro)
c.4156T>C (p.Ser1386Pro)
c.4081T>C (p.Ser1361Pro)
c.847T>C (p.Ser283Pro)
c.709T>C (p.Ser237Pro)
c.3271T>C (p.Ser1091Pro)
c.4036T>C (p.Ser1346Pro)
c.4018T>C (p.Ser1340Pro)
c.727T>C (p.Ser243Pro)
c.769T>C (p.Ser257Pro)
c.480T>C
c.733T>C (p.Ser245Pro)
c.*3942T>C (n.*3942T>C)
c.453T>C
c.850T>C (p.Ser284Pro)
c.472T>C (p.Ser158Pro)
c.475T>C (p.Ser159Pro)
c.5-27019T>C (n.5-27019T>C)
c.-43-16449T>C (n.-43-16449T>C)
c.-99+34301T>C (n.-99+34301T>C)
n.4295T>C
n.4336T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090970A>TCA10593406BRCA1c.4159T>A (p.Ser1387Thr)
c.4033T>A (p.Ser1345Thr)
c.4156T>A (p.Ser1386Thr)
c.4081T>A (p.Ser1361Thr)
c.847T>A (p.Ser283Thr)
c.709T>A (p.Ser237Thr)
c.3271T>A (p.Ser1091Thr)
c.4036T>A (p.Ser1346Thr)
c.4018T>A (p.Ser1340Thr)
c.727T>A (p.Ser243Thr)
c.769T>A (p.Ser257Thr)
c.480T>A
c.733T>A (p.Ser245Thr)
c.*3942T>A (n.*3942T>A)
c.453T>A
c.850T>A (p.Ser284Thr)
c.472T>A (p.Ser158Thr)
c.475T>A (p.Ser159Thr)
c.5-27019T>A (n.5-27019T>A)
c.-43-16449T>A (n.-43-16449T>A)
c.-99+34301T>A (n.-99+34301T>A)
n.4295T>A
n.4336T>A
 dbSNP
17g.43090971G>ACA500122946BRCA1c.4158C>T (p.Ser1386=)
c.4032C>T (p.Ser1344=)
c.4155C>T (p.Ser1385=)
c.4080C>T (p.Ser1360=)
c.846C>T (p.Ser282=)
c.708C>T (p.Ser236=)
c.3270C>T (p.Ser1090=)
c.4035C>T (p.Ser1345=)
c.4017C>T (p.Ser1339=)
c.726C>T (p.Ser242=)
c.768C>T (p.Ser256=)
c.479C>T
c.732C>T (p.Ser244=)
c.*3941C>T (n.*3941C>T)
c.452C>T
c.849C>T (p.Ser283=)
c.471C>T (p.Ser157=)
c.474C>T (p.Ser158=)
c.5-27020C>T (n.5-27020C>T)
c.-43-16450C>T (n.-43-16450C>T)
c.-99+34300C>T (n.-99+34300C>T)
n.4294C>T
n.4335C>T
 ClinVar dbSNP
17g.43090971G>CCA500122948BRCA1c.4158C>G (p.Ser1386=)
c.4032C>G (p.Ser1344=)
c.4155C>G (p.Ser1385=)
c.4080C>G (p.Ser1360=)
c.846C>G (p.Ser282=)
c.708C>G (p.Ser236=)
c.3270C>G (p.Ser1090=)
c.4035C>G (p.Ser1345=)
c.4017C>G (p.Ser1339=)
c.726C>G (p.Ser242=)
c.768C>G (p.Ser256=)
c.479C>G
c.732C>G (p.Ser244=)
c.*3941C>G (n.*3941C>G)
c.452C>G
c.849C>G (p.Ser283=)
c.471C>G (p.Ser157=)
c.474C>G (p.Ser158=)
c.5-27020C>G (n.5-27020C>G)
c.-43-16450C>G (n.-43-16450C>G)
c.-99+34300C>G (n.-99+34300C>G)
n.4294C>G
n.4335C>G
 dbSNP
17g.43090971G=CA2260781668BRCA1c.4158C= (p.Ser1386=)
c.4032C= (p.Ser1344=)
c.4155C= (p.Ser1385=)
c.4080C= (p.Ser1360=)
c.846C= (p.Ser282=)
c.708C= (p.Ser236=)
c.3270C= (p.Ser1090=)
c.4035C= (p.Ser1345=)
c.4017C= (p.Ser1339=)
c.726C= (p.Ser242=)
c.768C= (p.Ser256=)
c.479C=
c.732C= (p.Ser244=)
c.*3941C= (n.*3941C=)
c.452C=
c.849C= (p.Ser283=)
c.471C= (p.Ser157=)
c.474C= (p.Ser158=)
c.5-27020C= (n.5-27020C=)
c.-43-16450C= (n.-43-16450C=)
c.-99+34300C= (n.-99+34300C=)
n.4294C=
n.4335C=
17g.43090971G>TCA500122950BRCA1c.4158C>A (p.Ser1386=)
c.4032C>A (p.Ser1344=)
c.4155C>A (p.Ser1385=)
c.4080C>A (p.Ser1360=)
c.846C>A (p.Ser282=)
c.708C>A (p.Ser236=)
c.3270C>A (p.Ser1090=)
c.4035C>A (p.Ser1345=)
c.4017C>A (p.Ser1339=)
c.726C>A (p.Ser242=)
c.768C>A (p.Ser256=)
c.479C>A
c.732C>A (p.Ser244=)
c.*3941C>A (n.*3941C>A)
c.452C>A
c.849C>A (p.Ser283=)
c.471C>A (p.Ser157=)
c.474C>A (p.Ser158=)
c.5-27020C>A (n.5-27020C>A)
c.-43-16450C>A (n.-43-16450C>A)
c.-99+34300C>A (n.-99+34300C>A)
n.4294C>A
n.4335C>A
 dbSNP
17g.43090972G>ACA10593407BRCA1c.4157C>T (p.Ser1386Phe)
c.4031C>T (p.Ser1344Phe)
c.4154C>T (p.Ser1385Phe)
c.4079C>T (p.Ser1360Phe)
c.845C>T (p.Ser282Phe)
c.707C>T (p.Ser236Phe)
c.3269C>T (p.Ser1090Phe)
c.4034C>T (p.Ser1345Phe)
c.4016C>T (p.Ser1339Phe)
c.725C>T (p.Ser242Phe)
c.767C>T (p.Ser256Phe)
c.478C>T
c.731C>T (p.Ser244Phe)
c.*3940C>T (n.*3940C>T)
c.451C>T
c.848C>T (p.Ser283Phe)
c.470C>T (p.Ser157Phe)
c.473C>T (p.Ser158Phe)
c.5-27021C>T (n.5-27021C>T)
c.-43-16451C>T (n.-43-16451C>T)
c.-99+34299C>T (n.-99+34299C>T)
n.4293C>T
n.4334C>T
 dbSNP
17g.43090972G>CCA10593408BRCA1c.4157C>G (p.Ser1386Cys)
c.4031C>G (p.Ser1344Cys)
c.4154C>G (p.Ser1385Cys)
c.4079C>G (p.Ser1360Cys)
c.845C>G (p.Ser282Cys)
c.707C>G (p.Ser236Cys)
c.3269C>G (p.Ser1090Cys)
c.4034C>G (p.Ser1345Cys)
c.4016C>G (p.Ser1339Cys)
c.725C>G (p.Ser242Cys)
c.767C>G (p.Ser256Cys)
c.478C>G
c.731C>G (p.Ser244Cys)
c.*3940C>G (n.*3940C>G)
c.451C>G
c.848C>G (p.Ser283Cys)
c.470C>G (p.Ser157Cys)
c.473C>G (p.Ser158Cys)
c.5-27021C>G (n.5-27021C>G)
c.-43-16451C>G (n.-43-16451C>G)
c.-99+34299C>G (n.-99+34299C>G)
n.4293C>G
n.4334C>G
 dbSNP
17g.43090972G>TCA10593409BRCA1c.4157C>A (p.Ser1386Tyr)
c.4031C>A (p.Ser1344Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4079C>A (p.Ser1360Tyr)
c.845C>A (p.Ser282Tyr)
c.707C>A (p.Ser236Tyr)
c.3269C>A (p.Ser1090Tyr)
c.4034C>A (p.Ser1345Tyr)
c.4016C>A (p.Ser1339Tyr)
c.725C>A (p.Ser242Tyr)
c.767C>A (p.Ser256Tyr)
c.478C>A
c.731C>A (p.Ser244Tyr)
c.*3940C>A (n.*3940C>A)
c.451C>A
c.848C>A (p.Ser283Tyr)
c.470C>A (p.Ser157Tyr)
c.473C>A (p.Ser158Tyr)
c.5-27021C>A (n.5-27021C>A)
c.-43-16451C>A (n.-43-16451C>A)
c.-99+34299C>A (n.-99+34299C>A)
n.4293C>A
n.4334C>A
 dbSNP
17g.43090973A=CA2260781669BRCA1c.4156T= (p.Ser1386=)
c.4030T= (p.Ser1344=)
c.4153T= (p.Ser1385=)
c.4078T= (p.Ser1360=)
c.844T= (p.Ser282=)
c.706T= (p.Ser236=)
c.3268T= (p.Ser1090=)
c.4033T= (p.Ser1345=)
c.4015T= (p.Ser1339=)
c.724T= (p.Ser242=)
c.766T= (p.Ser256=)
c.477T=
c.730T= (p.Ser244=)
c.*3939T= (n.*3939T=)
c.450T=
c.847T= (p.Ser283=)
c.469T= (p.Ser157=)
c.472T= (p.Ser158=)
c.5-27022T= (n.5-27022T=)
c.-43-16452T= (n.-43-16452T=)
c.-99+34298T= (n.-99+34298T=)
n.4292T=
n.4333T=
17g.43090973A>CCA10593410BRCA1c.4156T>G (p.Ser1386Ala)
c.4030T>G (p.Ser1344Ala)
c.4153T>G (p.Ser1385Ala)
c.4078T>G (p.Ser1360Ala)
c.844T>G (p.Ser282Ala)
c.706T>G (p.Ser236Ala)
c.3268T>G (p.Ser1090Ala)
c.4033T>G (p.Ser1345Ala)
c.4015T>G (p.Ser1339Ala)
c.724T>G (p.Ser242Ala)
c.766T>G (p.Ser256Ala)
c.477T>G
c.730T>G (p.Ser244Ala)
c.*3939T>G (n.*3939T>G)
c.450T>G
c.847T>G (p.Ser283Ala)
c.469T>G (p.Ser157Ala)
c.472T>G (p.Ser158Ala)
c.5-27022T>G (n.5-27022T>G)
c.-43-16452T>G (n.-43-16452T>G)
c.-99+34298T>G (n.-99+34298T>G)
n.4292T>G
n.4333T>G
 dbSNP
17g.43090973A>GCA10593411BRCA1c.4156T>C (p.Ser1386Pro)
c.4030T>C (p.Ser1344Pro)
c.4153T>C (p.Ser1385Pro)
c.4078T>C (p.Ser1360Pro)
c.844T>C (p.Ser282Pro)
c.706T>C (p.Ser236Pro)
c.3268T>C (p.Ser1090Pro)
c.4033T>C (p.Ser1345Pro)
c.4015T>C (p.Ser1339Pro)
c.724T>C (p.Ser242Pro)
c.766T>C (p.Ser256Pro)
c.477T>C
c.730T>C (p.Ser244Pro)
c.*3939T>C (n.*3939T>C)
c.450T>C
c.847T>C (p.Ser283Pro)
c.469T>C (p.Ser157Pro)
c.472T>C (p.Ser158Pro)
c.5-27022T>C (n.5-27022T>C)
c.-43-16452T>C (n.-43-16452T>C)
c.-99+34298T>C (n.-99+34298T>C)
n.4292T>C
n.4333T>C
17g.43090973A>TCA10593412BRCA1c.4156T>A (p.Ser1386Thr)
c.4030T>A (p.Ser1344Thr)
c.4153T>A (p.Ser1385Thr)
c.4078T>A (p.Ser1360Thr)
c.844T>A (p.Ser282Thr)
c.706T>A (p.Ser236Thr)
c.3268T>A (p.Ser1090Thr)
c.4033T>A (p.Ser1345Thr)
c.4015T>A (p.Ser1339Thr)
c.724T>A (p.Ser242Thr)
c.766T>A (p.Ser256Thr)
c.477T>A
c.730T>A (p.Ser244Thr)
c.*3939T>A (n.*3939T>A)
c.450T>A
c.847T>A (p.Ser283Thr)
c.469T>A (p.Ser157Thr)
c.472T>A (p.Ser158Thr)
c.5-27022T>A (n.5-27022T>A)
c.-43-16452T>A (n.-43-16452T>A)
c.-99+34298T>A (n.-99+34298T>A)
n.4292T>A
n.4333T>A
 dbSNP
17g.43090974T>ACA500122965BRCA1c.4155A>T (p.Leu1385=)
c.4029A>T (p.Leu1343=)
c.4152A>T (p.Leu1384=)
c.4077A>T (p.Leu1359=)
c.843A>T (p.Leu281=)
c.705A>T (p.Leu235=)
c.3267A>T (p.Leu1089=)
c.4032A>T (p.Leu1344=)
c.4014A>T (p.Leu1338=)
c.723A>T (p.Leu241=)
c.765A>T (p.Leu255=)
c.476A>T
c.729A>T (p.Leu243=)
c.*3938A>T (n.*3938A>T)
c.449A>T
c.846A>T (p.Leu282=)
c.468A>T (p.Leu156=)
c.471A>T (p.Leu157=)
c.5-27023A>T (n.5-27023A>T)
c.-43-16453A>T (n.-43-16453A>T)
c.-99+34297A>T (n.-99+34297A>T)
n.4291A>T
n.4332A>T
 dbSNP
17g.43090974T>CCA16607261BRCA1c.4155A>G (p.Leu1385=)
c.4029A>G (p.Leu1343=)
c.4152A>G (p.Leu1384=)
c.4077A>G (p.Leu1359=)
c.843A>G (p.Leu281=)
c.705A>G (p.Leu235=)
c.3267A>G (p.Leu1089=)
c.4032A>G (p.Leu1344=)
c.4014A>G (p.Leu1338=)
c.723A>G (p.Leu241=)
c.765A>G (p.Leu255=)
c.476A>G
c.729A>G (p.Leu243=)
c.*3938A>G (n.*3938A>G)
c.449A>G
c.846A>G (p.Leu282=)
c.468A>G (p.Leu156=)
c.471A>G (p.Leu157=)
c.5-27023A>G (n.5-27023A>G)
c.-43-16453A>G (n.-43-16453A>G)
c.-99+34297A>G (n.-99+34297A>G)
n.4291A>G
n.4332A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43090974T>GCA500122962BRCA1c.4155A>C (p.Leu1385=)
c.4029A>C (p.Leu1343=)
c.4152A>C (p.Leu1384=)
c.4077A>C (p.Leu1359=)
c.843A>C (p.Leu281=)
c.705A>C (p.Leu235=)
c.3267A>C (p.Leu1089=)
c.4032A>C (p.Leu1344=)
c.4014A>C (p.Leu1338=)
c.723A>C (p.Leu241=)
c.765A>C (p.Leu255=)
c.476A>C
c.729A>C (p.Leu243=)
c.*3938A>C (n.*3938A>C)
c.449A>C
c.846A>C (p.Leu282=)
c.468A>C (p.Leu156=)
c.471A>C (p.Leu157=)
c.5-27023A>C (n.5-27023A>C)
c.-43-16453A>C (n.-43-16453A>C)
c.-99+34297A>C (n.-99+34297A>C)
n.4291A>C
n.4332A>C
 dbSNP gnomAD v4
17g.43090974T=CA2260781670BRCA1c.4155A= (p.Leu1385=)
c.4029A= (p.Leu1343=)
c.4152A= (p.Leu1384=)
c.4077A= (p.Leu1359=)
c.843A= (p.Leu281=)
c.705A= (p.Leu235=)
c.3267A= (p.Leu1089=)
c.4032A= (p.Leu1344=)
c.4014A= (p.Leu1338=)
c.723A= (p.Leu241=)
c.765A= (p.Leu255=)
c.476A=
c.729A= (p.Leu243=)
c.*3938A= (n.*3938A=)
c.449A=
c.846A= (p.Leu282=)
c.468A= (p.Leu156=)
c.471A= (p.Leu157=)
c.5-27023A= (n.5-27023A=)
c.-43-16453A= (n.-43-16453A=)
c.-99+34297A= (n.-99+34297A=)
n.4291A=
n.4332A=
17g.43090974_43090983dupCA10589685BRCA1c.4146_4155dup (p.Ser1386LeufsTer8)
c.4020_4029dup (p.Ser1344LeufsTer8)
c.4143_4152dup (p.Ser1385LeufsTer8)
c.4068_4077dup (p.Ser1360LeufsTer8)
c.834_843dup (p.Ser282LeufsTer8)
c.696_705dup (p.Ser236LeufsTer8)
c.3258_3267dup (p.Ser1090LeufsTer8)
c.4023_4032dup (p.Ser1345LeufsTer8)
c.4005_4014dup (p.Ser1339LeufsTer8)
c.714_723dup (p.Ser242LeufsTer8)
c.756_765dup (p.Ser256LeufsTer8)
c.467_476dup
c.720_729dup (p.Ser244LeufsTer8)
c.*3929_*3938dup (n.*3929_*3938dup)
c.440_449dup
c.837_846dup (p.Ser283LeufsTer8)
c.459_468dup (p.Ser157LeufsTer8)
c.462_471dup (p.Ser158LeufsTer8)
c.5-27032_5-27023dup (n.5-27032_5-27023dup)
c.-43-16462_-43-16453dup (n.-43-16462_-43-16453dup)
c.-99+34288_-99+34297dup (n.-99+34288_-99+34297dup)
n.4282_4291dup
n.4323_4332dup
 ClinVar dbSNP
17g.43090975A=CA2260781672BRCA1c.4154T= (p.Leu1385=)
c.4028T= (p.Leu1343=)
c.4151T= (p.Leu1384=)
c.4076T= (p.Leu1359=)
c.842T= (p.Leu281=)
c.704T= (p.Leu235=)
c.3266T= (p.Leu1089=)
c.4031T= (p.Leu1344=)
c.4013T= (p.Leu1338=)
c.722T= (p.Leu241=)
c.764T= (p.Leu255=)
c.475T=
c.728T= (p.Leu243=)
c.*3937T= (n.*3937T=)
c.448T=
c.845T= (p.Leu282=)
c.467T= (p.Leu156=)
c.470T= (p.Leu157=)
c.5-27024T= (n.5-27024T=)
c.-43-16454T= (n.-43-16454T=)
c.-99+34296T= (n.-99+34296T=)
n.4290T=
n.4331T=
17g.43090975A>CCA10593413BRCA1c.4154T>G (p.Leu1385Arg)
c.4028T>G (p.Leu1343Arg)
c.4151T>G (p.Leu1384Arg)
c.4076T>G (p.Leu1359Arg)
c.842T>G (p.Leu281Arg)
c.704T>G (p.Leu235Arg)
c.3266T>G (p.Leu1089Arg)
c.4031T>G (p.Leu1344Arg)
c.4013T>G (p.Leu1338Arg)
c.722T>G (p.Leu241Arg)
c.764T>G (p.Leu255Arg)
c.475T>G
c.728T>G (p.Leu243Arg)
c.*3937T>G (n.*3937T>G)
c.448T>G
c.845T>G (p.Leu282Arg)
c.467T>G (p.Leu156Arg)
c.470T>G (p.Leu157Arg)
c.5-27024T>G (n.5-27024T>G)
c.-43-16454T>G (n.-43-16454T>G)
c.-99+34296T>G (n.-99+34296T>G)
n.4290T>G
n.4331T>G
17g.43090975A>GCA10593414BRCA1c.4154T>C (p.Leu1385Pro)
c.4028T>C (p.Leu1343Pro)
c.4151T>C (p.Leu1384Pro)
c.4076T>C (p.Leu1359Pro)
c.842T>C (p.Leu281Pro)
c.704T>C (p.Leu235Pro)
c.3266T>C (p.Leu1089Pro)
c.4031T>C (p.Leu1344Pro)
c.4013T>C (p.Leu1338Pro)
c.722T>C (p.Leu241Pro)
c.764T>C (p.Leu255Pro)
c.475T>C
c.728T>C (p.Leu243Pro)
c.*3937T>C (n.*3937T>C)
c.448T>C
c.845T>C (p.Leu282Pro)
c.467T>C (p.Leu156Pro)
c.470T>C (p.Leu157Pro)
c.5-27024T>C (n.5-27024T>C)
c.-43-16454T>C (n.-43-16454T>C)
c.-99+34296T>C (n.-99+34296T>C)
n.4290T>C
n.4331T>C
 ClinVar dbSNP gnomAD v4
17g.43090975A>TCA10593415BRCA1c.4154T>A (p.Leu1385Gln)
c.4028T>A (p.Leu1343Gln)
c.4151T>A (p.Leu1384Gln)
c.4076T>A (p.Leu1359Gln)
c.842T>A (p.Leu281Gln)
c.704T>A (p.Leu235Gln)
c.3266T>A (p.Leu1089Gln)
c.4031T>A (p.Leu1344Gln)
c.4013T>A (p.Leu1338Gln)
c.722T>A (p.Leu241Gln)
c.764T>A (p.Leu255Gln)
c.475T>A
c.728T>A (p.Leu243Gln)
c.*3937T>A (n.*3937T>A)
c.448T>A
c.845T>A (p.Leu282Gln)
c.467T>A (p.Leu156Gln)
c.470T>A (p.Leu157Gln)
c.5-27024T>A (n.5-27024T>A)
c.-43-16454T>A (n.-43-16454T>A)
c.-99+34296T>A (n.-99+34296T>A)
n.4290T>A
n.4331T>A
 ClinVar dbSNP
17g.43090975_43090976delCA2499224438BRCA1c.4153_4154del (p.Leu1385IlefsTer5)
c.4027_4028del (p.Leu1343IlefsTer5)
c.4150_4151del (p.Leu1384IlefsTer5)
c.4075_4076del (p.Leu1359IlefsTer5)
c.841_842del (p.Leu281IlefsTer5)
c.703_704del (p.Leu235IlefsTer5)
c.3265_3266del (p.Leu1089IlefsTer5)
c.4030_4031del (p.Leu1344IlefsTer5)
c.4012_4013del (p.Leu1338IlefsTer5)
c.721_722del (p.Leu241IlefsTer5)
c.763_764del (p.Leu255IlefsTer5)
c.474_475del
c.727_728del (p.Leu243IlefsTer5)
c.*3936_*3937del (n.*3936_*3937del)
c.447_448del
c.844_845del (p.Leu282IlefsTer5)
c.466_467del (p.Leu156IlefsTer5)
c.469_470del (p.Leu157IlefsTer5)
c.5-27025_5-27024del (n.5-27025_5-27024del)
c.-43-16455_-43-16454del (n.-43-16455_-43-16454del)
c.-99+34295_-99+34296del (n.-99+34295_-99+34296del)
n.4289_4290del
n.4330_4331del
17g.43090975_43090977delinsAGCCA2260781671BRCA1c.4152_4154delinsGCT (p.Gly1384=)
c.4026_4028delinsGCT (p.Gly1342=)
c.4149_4151delinsGCT (p.Gly1383=)
c.4074_4076delinsGCT (p.Gly1358=)
c.840_842delinsGCT (p.Gly280=)
c.702_704delinsGCT (p.Gly234=)
c.3264_3266delinsGCT (p.Gly1088=)
c.4029_4031delinsGCT (p.Gly1343=)
c.4011_4013delinsGCT (p.Gly1337=)
c.720_722delinsGCT (p.Gly240=)
c.762_764delinsGCT (p.Gly254=)
c.473_475delinsGCT
c.726_728delinsGCT (p.Gly242=)
c.*3935_*3937delinsGCT (n.*3935_*3937delinsGCT)
c.446_448delinsGCT
c.843_845delinsGCT (p.Gly281=)
c.465_467delinsGCT (p.Gly155=)
c.468_470delinsGCT (p.Gly156=)
c.5-27026_5-27024delinsGCT (n.5-27026_5-27024delinsGCT)
c.-43-16456_-43-16454delinsGCT (n.-43-16456_-43-16454delinsGCT)
c.-99+34294_-99+34296delinsGCT (n.-99+34294_-99+34296delinsGCT)
n.4288_4290delinsGCT
n.4329_4331delinsGCT
17g.43090976G>ACA500122971BRCA1c.4153C>T (p.Leu1385=)
c.4027C>T (p.Leu1343=)
c.4150C>T (p.Leu1384=)
c.4075C>T (p.Leu1359=)
c.841C>T (p.Leu281=)
c.703C>T (p.Leu235=)
c.3265C>T (p.Leu1089=)
c.4030C>T (p.Leu1344=)
c.4012C>T (p.Leu1338=)
c.721C>T (p.Leu241=)
c.763C>T (p.Leu255=)
c.474C>T
c.727C>T (p.Leu243=)
c.*3936C>T (n.*3936C>T)
c.447C>T
c.844C>T (p.Leu282=)
c.466C>T (p.Leu156=)
c.469C>T (p.Leu157=)
c.5-27025C>T (n.5-27025C>T)
c.-43-16455C>T (n.-43-16455C>T)
c.-99+34295C>T (n.-99+34295C>T)
n.4289C>T
n.4330C>T
 ClinVar dbSNP
17g.43090976G>CCA10593416BRCA1c.4153C>G (p.Leu1385Val)
c.4027C>G (p.Leu1343Val)
c.4150C>G (p.Leu1384Val)
c.4075C>G (p.Leu1359Val)
c.841C>G (p.Leu281Val)
c.703C>G (p.Leu235Val)
c.3265C>G (p.Leu1089Val)
c.4030C>G (p.Leu1344Val)
c.4012C>G (p.Leu1338Val)
c.721C>G (p.Leu241Val)
c.763C>G (p.Leu255Val)
c.474C>G
c.727C>G (p.Leu243Val)
c.*3936C>G (n.*3936C>G)
c.447C>G
c.844C>G (p.Leu282Val)
c.466C>G (p.Leu156Val)
c.469C>G (p.Leu157Val)
c.5-27025C>G (n.5-27025C>G)
c.-43-16455C>G (n.-43-16455C>G)
c.-99+34295C>G (n.-99+34295C>G)
n.4289C>G
n.4330C>G
 ClinVar dbSNP
17g.43090976G>TCA10593417BRCA1c.4153C>A (p.Leu1385Ile)
c.4027C>A (p.Leu1343Ile)
c.4150C>A (p.Leu1384Ile)
c.4075C>A (p.Leu1359Ile)
c.841C>A (p.Leu281Ile)
c.703C>A (p.Leu235Ile)
c.3265C>A (p.Leu1089Ile)
c.4030C>A (p.Leu1344Ile)
c.4012C>A (p.Leu1338Ile)
c.721C>A (p.Leu241Ile)
c.763C>A (p.Leu255Ile)
c.474C>A
c.727C>A (p.Leu243Ile)
c.*3936C>A (n.*3936C>A)
c.447C>A
c.844C>A (p.Leu282Ile)
c.466C>A (p.Leu156Ile)
c.469C>A (p.Leu157Ile)
c.5-27025C>A (n.5-27025C>A)
c.-43-16455C>A (n.-43-16455C>A)
c.-99+34295C>A (n.-99+34295C>A)
n.4289C>A
n.4330C>A
17g.43090976_43090977delCA891844428BRCA1c.4152_4153del (p.Leu1385IlefsTer5)
c.4026_4027del (p.Leu1343IlefsTer5)
c.4149_4150del (p.Leu1384IlefsTer5)
c.4074_4075del (p.Leu1359IlefsTer5)
c.840_841del (p.Leu281IlefsTer5)
c.702_703del (p.Leu235IlefsTer5)
c.3264_3265del (p.Leu1089IlefsTer5)
c.4029_4030del (p.Leu1344IlefsTer5)
c.4011_4012del (p.Leu1338IlefsTer5)
c.720_721del (p.Leu241IlefsTer5)
c.762_763del (p.Leu255IlefsTer5)
c.473_474del
c.726_727del (p.Leu243IlefsTer5)
c.*3935_*3936del (n.*3935_*3936del)
c.446_447del
c.843_844del (p.Leu282IlefsTer5)
c.465_466del (p.Leu156IlefsTer5)
c.468_469del (p.Leu157IlefsTer5)
c.5-27026_5-27025del (n.5-27026_5-27025del)
c.-43-16456_-43-16455del (n.-43-16456_-43-16455del)
c.-99+34294_-99+34295del (n.-99+34294_-99+34295del)
n.4288_4289del
n.4329_4330del
 ClinVar dbSNP
17g.43090977C>ACA500122975BRCA1c.4152G>T (p.Gly1384=)
c.4026G>T (p.Gly1342=)
c.4149G>T (p.Gly1383=)
c.4074G>T (p.Gly1358=)
c.840G>T (p.Gly280=)
c.702G>T (p.Gly234=)
c.3264G>T (p.Gly1088=)
c.4029G>T (p.Gly1343=)
c.4011G>T (p.Gly1337=)
c.720G>T (p.Gly240=)
c.762G>T (p.Gly254=)
c.473G>T
c.726G>T (p.Gly242=)
c.*3935G>T (n.*3935G>T)
c.446G>T
c.843G>T (p.Gly281=)
c.465G>T (p.Gly155=)
c.468G>T (p.Gly156=)
c.5-27026G>T (n.5-27026G>T)
c.-43-16456G>T (n.-43-16456G>T)
c.-99+34294G>T (n.-99+34294G>T)
n.4288G>T
n.4329G>T
 ClinVar dbSNP
17g.43090977C>GCA500122977BRCA1c.4152G>C (p.Gly1384=)
c.4026G>C (p.Gly1342=)
c.4149G>C (p.Gly1383=)
c.4074G>C (p.Gly1358=)
c.840G>C (p.Gly280=)
c.702G>C (p.Gly234=)
c.3264G>C (p.Gly1088=)
c.4029G>C (p.Gly1343=)
c.4011G>C (p.Gly1337=)
c.720G>C (p.Gly240=)
c.762G>C (p.Gly254=)
c.473G>C
c.726G>C (p.Gly242=)
c.*3935G>C (n.*3935G>C)
c.446G>C
c.843G>C (p.Gly281=)
c.465G>C (p.Gly155=)
c.468G>C (p.Gly156=)
c.5-27026G>C (n.5-27026G>C)
c.-43-16456G>C (n.-43-16456G>C)
c.-99+34294G>C (n.-99+34294G>C)
n.4288G>C
n.4329G>C
 dbSNP
17g.43090977C>TCA500122978BRCA1c.4152G>A (p.Gly1384=)
c.4026G>A (p.Gly1342=)
c.4149G>A (p.Gly1383=)
c.4074G>A (p.Gly1358=)
c.840G>A (p.Gly280=)
c.702G>A (p.Gly234=)
c.3264G>A (p.Gly1088=)
c.4029G>A (p.Gly1343=)
c.4011G>A (p.Gly1337=)
c.720G>A (p.Gly240=)
c.762G>A (p.Gly254=)
c.473G>A
c.726G>A (p.Gly242=)
c.*3935G>A (n.*3935G>A)
c.446G>A
c.843G>A (p.Gly281=)
c.465G>A (p.Gly155=)
c.468G>A (p.Gly156=)
c.5-27026G>A (n.5-27026G>A)
c.-43-16456G>A (n.-43-16456G>A)
c.-99+34294G>A (n.-99+34294G>A)
n.4288G>A
n.4329G>A
 dbSNP
17g.43090978C>ACA10593418BRCA1c.4151G>T (p.Gly1384Val)
c.4025G>T (p.Gly1342Val)
c.4148G>T (p.Gly1383Val)
c.4073G>T (p.Gly1358Val)
c.839G>T (p.Gly280Val)
c.701G>T (p.Gly234Val)
c.3263G>T (p.Gly1088Val)
c.4028G>T (p.Gly1343Val)
c.4010G>T (p.Gly1337Val)
c.719G>T (p.Gly240Val)
c.761G>T (p.Gly254Val)
c.472G>T
c.725G>T (p.Gly242Val)
c.*3934G>T (n.*3934G>T)
c.445G>T
c.842G>T (p.Gly281Val)
c.464G>T (p.Gly155Val)
c.467G>T (p.Gly156Val)
c.5-27027G>T (n.5-27027G>T)
c.-43-16457G>T (n.-43-16457G>T)
c.-99+34293G>T (n.-99+34293G>T)
n.4287G>T
n.4328G>T
 dbSNP
17g.43090978C=CA2260781673BRCA1c.4151G= (p.Gly1384=)
c.4025G= (p.Gly1342=)
c.4148G= (p.Gly1383=)
c.4073G= (p.Gly1358=)
c.839G= (p.Gly280=)
c.701G= (p.Gly234=)
c.3263G= (p.Gly1088=)
c.4028G= (p.Gly1343=)
c.4010G= (p.Gly1337=)
c.719G= (p.Gly240=)
c.761G= (p.Gly254=)
c.472G=
c.725G= (p.Gly242=)
c.*3934G= (n.*3934G=)
c.445G=
c.842G= (p.Gly281=)
c.464G= (p.Gly155=)
c.467G= (p.Gly156=)
c.5-27027G= (n.5-27027G=)
c.-43-16457G= (n.-43-16457G=)
c.-99+34293G= (n.-99+34293G=)
n.4287G=
n.4328G=
17g.43090978C>GCA10593419BRCA1c.4151G>C (p.Gly1384Ala)
c.4025G>C (p.Gly1342Ala)
c.4148G>C (p.Gly1383Ala)
c.4073G>C (p.Gly1358Ala)
c.839G>C (p.Gly280Ala)
c.701G>C (p.Gly234Ala)
c.3263G>C (p.Gly1088Ala)
c.4028G>C (p.Gly1343Ala)
c.4010G>C (p.Gly1337Ala)
c.719G>C (p.Gly240Ala)
c.761G>C (p.Gly254Ala)
c.472G>C
c.725G>C (p.Gly242Ala)
c.*3934G>C (n.*3934G>C)
c.445G>C
c.842G>C (p.Gly281Ala)
c.464G>C (p.Gly155Ala)
c.467G>C (p.Gly156Ala)
c.5-27027G>C (n.5-27027G>C)
c.-43-16457G>C (n.-43-16457G>C)
c.-99+34293G>C (n.-99+34293G>C)
n.4287G>C
n.4328G>C
 dbSNP
17g.43090978C>TCA002658BRCA1c.4151G>A (p.Gly1384Glu)
c.4025G>A (p.Gly1342Glu)
c.4148G>A (p.Gly1383Glu)
c.4073G>A (p.Gly1358Glu)
c.839G>A (p.Gly280Glu)
c.701G>A (p.Gly234Glu)
c.3263G>A (p.Gly1088Glu)
c.4028G>A (p.Gly1343Glu)
c.4010G>A (p.Gly1337Glu)
c.719G>A (p.Gly240Glu)
c.761G>A (p.Gly254Glu)
c.472G>A
c.725G>A (p.Gly242Glu)
c.*3934G>A (n.*3934G>A)
c.445G>A
c.842G>A (p.Gly281Glu)
c.464G>A (p.Gly155Glu)
c.467G>A (p.Gly156Glu)
c.5-27027G>A (n.5-27027G>A)
c.-43-16457G>A (n.-43-16457G>A)
c.-99+34293G>A (n.-99+34293G>A)
n.4287G>A
n.4328G>A
 ClinVar dbSNP
17g.43090979C>ACA10593420BRCA1c.4150G>T (p.Gly1384Trp)
c.4024G>T (p.Gly1342Trp)
c.4147G>T (p.Gly1383Trp)
c.4072G>T (p.Gly1358Trp)
c.838G>T (p.Gly280Trp)
c.700G>T (p.Gly234Trp)
c.3262G>T (p.Gly1088Trp)
c.4027G>T (p.Gly1343Trp)
c.4009G>T (p.Gly1337Trp)
c.718G>T (p.Gly240Trp)
c.760G>T (p.Gly254Trp)
c.471G>T
c.724G>T (p.Gly242Trp)
c.*3933G>T (n.*3933G>T)
c.444G>T
c.841G>T (p.Gly281Trp)
c.463G>T (p.Gly155Trp)
c.466G>T (p.Gly156Trp)
c.5-27028G>T (n.5-27028G>T)
c.-43-16458G>T (n.-43-16458G>T)
c.-99+34292G>T (n.-99+34292G>T)
n.4286G>T
n.4327G>T
 ClinVar dbSNP gnomAD v4 COSMIC
17g.43090979C=CA2260781674BRCA1c.4150G= (p.Gly1384=)
c.4024G= (p.Gly1342=)
c.4147G= (p.Gly1383=)
c.4072G= (p.Gly1358=)
c.838G= (p.Gly280=)
c.700G= (p.Gly234=)
c.3262G= (p.Gly1088=)
c.4027G= (p.Gly1343=)
c.4009G= (p.Gly1337=)
c.718G= (p.Gly240=)
c.760G= (p.Gly254=)
c.471G=
c.724G= (p.Gly242=)
c.*3933G= (n.*3933G=)
c.444G=
c.841G= (p.Gly281=)
c.463G= (p.Gly155=)
c.466G= (p.Gly156=)
c.5-27028G= (n.5-27028G=)
c.-43-16458G= (n.-43-16458G=)
c.-99+34292G= (n.-99+34292G=)
n.4286G=
n.4327G=
17g.43090979C>GCA10593421BRCA1c.4150G>C (p.Gly1384Arg)
c.4024G>C (p.Gly1342Arg)
c.4147G>C (p.Gly1383Arg)
c.4072G>C (p.Gly1358Arg)
c.838G>C (p.Gly280Arg)
c.700G>C (p.Gly234Arg)
c.3262G>C (p.Gly1088Arg)
c.4027G>C (p.Gly1343Arg)
c.4009G>C (p.Gly1337Arg)
c.718G>C (p.Gly240Arg)
c.760G>C (p.Gly254Arg)
c.471G>C
c.724G>C (p.Gly242Arg)
c.*3933G>C (n.*3933G>C)
c.444G>C
c.841G>C (p.Gly281Arg)
c.463G>C (p.Gly155Arg)
c.466G>C (p.Gly156Arg)
c.5-27028G>C (n.5-27028G>C)
c.-43-16458G>C (n.-43-16458G>C)
c.-99+34292G>C (n.-99+34292G>C)
n.4286G>C
n.4327G>C
 dbSNP
17g.43090979C>TCA10593422BRCA1c.4150G>A (p.Gly1384Arg)
c.4024G>A (p.Gly1342Arg)
c.4147G>A (p.Gly1383Arg)
c.4072G>A (p.Gly1358Arg)
c.838G>A (p.Gly280Arg)
c.700G>A (p.Gly234Arg)
c.3262G>A (p.Gly1088Arg)
c.4027G>A (p.Gly1343Arg)
c.4009G>A (p.Gly1337Arg)
c.718G>A (p.Gly240Arg)
c.760G>A (p.Gly254Arg)
c.471G>A
c.724G>A (p.Gly242Arg)
c.*3933G>A (n.*3933G>A)
c.444G>A
c.841G>A (p.Gly281Arg)
c.463G>A (p.Gly155Arg)
c.466G>A (p.Gly156Arg)
c.5-27028G>A (n.5-27028G>A)
c.-43-16458G>A (n.-43-16458G>A)
c.-99+34292G>A (n.-99+34292G>A)
n.4286G>A
n.4327G>A
 ClinVar dbSNP
17g.43090980T>ACA500122988BRCA1c.4149A>T (p.Ser1383=)
c.4023A>T (p.Ser1341=)
c.4146A>T (p.Ser1382=)
c.4071A>T (p.Ser1357=)
c.837A>T (p.Ser279=)
c.699A>T (p.Ser233=)
c.3261A>T (p.Ser1087=)
c.4026A>T (p.Ser1342=)
c.4008A>T (p.Ser1336=)
c.717A>T (p.Ser239=)
c.759A>T (p.Ser253=)
c.470A>T
c.723A>T (p.Ser241=)
c.*3932A>T (n.*3932A>T)
c.443A>T
c.840A>T (p.Ser280=)
c.462A>T (p.Ser154=)
c.465A>T (p.Ser155=)
c.5-27029A>T (n.5-27029A>T)
c.-43-16459A>T (n.-43-16459A>T)
c.-99+34291A>T (n.-99+34291A>T)
n.4285A>T
n.4326A>T
17g.43090980T>CCA500122990BRCA1c.4149A>G (p.Ser1383=)
c.4023A>G (p.Ser1341=)
c.4146A>G (p.Ser1382=)
c.4071A>G (p.Ser1357=)
c.837A>G (p.Ser279=)
c.699A>G (p.Ser233=)
c.3261A>G (p.Ser1087=)
c.4026A>G (p.Ser1342=)
c.4008A>G (p.Ser1336=)
c.717A>G (p.Ser239=)
c.759A>G (p.Ser253=)
c.470A>G
c.723A>G (p.Ser241=)
c.*3932A>G (n.*3932A>G)
c.443A>G
c.840A>G (p.Ser280=)
c.462A>G (p.Ser154=)
c.465A>G (p.Ser155=)
c.5-27029A>G (n.5-27029A>G)
c.-43-16459A>G (n.-43-16459A>G)
c.-99+34291A>G (n.-99+34291A>G)
n.4285A>G
n.4326A>G
17g.43090980T>GCA500122991BRCA1c.4149A>C (p.Ser1383=)
c.4023A>C (p.Ser1341=)
c.4146A>C (p.Ser1382=)
c.4071A>C (p.Ser1357=)
c.837A>C (p.Ser279=)
c.699A>C (p.Ser233=)
c.3261A>C (p.Ser1087=)
c.4026A>C (p.Ser1342=)
c.4008A>C (p.Ser1336=)
c.717A>C (p.Ser239=)
c.759A>C (p.Ser253=)
c.470A>C
c.723A>C (p.Ser241=)
c.*3932A>C (n.*3932A>C)
c.443A>C
c.840A>C (p.Ser280=)
c.462A>C (p.Ser154=)
c.465A>C (p.Ser155=)
c.5-27029A>C (n.5-27029A>C)
c.-43-16459A>C (n.-43-16459A>C)
c.-99+34291A>C (n.-99+34291A>C)
n.4285A>C
n.4326A>C
17g.43090981G>ACA10593423BRCA1c.4148C>T (p.Ser1383Leu)
c.4022C>T (p.Ser1341Leu)
c.4145C>T (p.Ser1382Leu)
c.4070C>T (p.Ser1357Leu)
c.836C>T (p.Ser279Leu)
c.698C>T (p.Ser233Leu)
c.3260C>T (p.Ser1087Leu)
c.4025C>T (p.Ser1342Leu)
c.4007C>T (p.Ser1336Leu)
c.716C>T (p.Ser239Leu)
c.758C>T (p.Ser253Leu)
c.469C>T
c.722C>T (p.Ser241Leu)
c.*3931C>T (n.*3931C>T)
c.442C>T
c.839C>T (p.Ser280Leu)
c.461C>T (p.Ser154Leu)
c.464C>T (p.Ser155Leu)
c.5-27030C>T (n.5-27030C>T)
c.-43-16460C>T (n.-43-16460C>T)
c.-99+34290C>T (n.-99+34290C>T)
n.4284C>T
n.4325C>T
 ClinVar dbSNP
17g.43090981G>CCA002657BRCA1c.4148C>G (p.Ser1383Ter)
c.4022C>G (p.Ser1341Ter)
c.4145C>G (p.Ser1382Ter)
c.4070C>G (p.Ser1357Ter)
c.836C>G (p.Ser279Ter)
c.698C>G (p.Ser233Ter)
c.3260C>G (p.Ser1087Ter)
c.4025C>G (p.Ser1342Ter)
c.4007C>G (p.Ser1336Ter)
c.716C>G (p.Ser239Ter)
c.758C>G (p.Ser253Ter)
c.469C>G
c.722C>G (p.Ser241Ter)
c.*3931C>G (n.*3931C>G)
c.442C>G
c.839C>G (p.Ser280Ter)
c.461C>G (p.Ser154Ter)
c.464C>G (p.Ser155Ter)
c.5-27030C>G (n.5-27030C>G)
c.-43-16460C>G (n.-43-16460C>G)
c.-99+34290C>G (n.-99+34290C>G)
n.4284C>G
n.4325C>G
 ClinVar dbSNP
17g.43090981G=CA2260781675BRCA1c.4148C= (p.Ser1383=)
c.4022C= (p.Ser1341=)
c.4145C= (p.Ser1382=)
c.4070C= (p.Ser1357=)
c.836C= (p.Ser279=)
c.698C= (p.Ser233=)
c.3260C= (p.Ser1087=)
c.4025C= (p.Ser1342=)
c.4007C= (p.Ser1336=)
c.716C= (p.Ser239=)
c.758C= (p.Ser253=)
c.469C=
c.722C= (p.Ser241=)
c.*3931C= (n.*3931C=)
c.442C=
c.839C= (p.Ser280=)
c.461C= (p.Ser154=)
c.464C= (p.Ser155=)
c.5-27030C= (n.5-27030C=)
c.-43-16460C= (n.-43-16460C=)
c.-99+34290C= (n.-99+34290C=)
n.4284C=
n.4325C=
17g.43090981G>TCA10593424BRCA1c.4148C>A (p.Ser1383Ter)
c.4022C>A (p.Ser1341Ter)
c.4145C>A (p.Ser1382Ter)
c.4070C>A (p.Ser1357Ter)
c.836C>A (p.Ser279Ter)
c.698C>A (p.Ser233Ter)
c.3260C>A (p.Ser1087Ter)
c.4025C>A (p.Ser1342Ter)
c.4007C>A (p.Ser1336Ter)
c.716C>A (p.Ser239Ter)
c.758C>A (p.Ser253Ter)
c.469C>A
c.722C>A (p.Ser241Ter)
c.*3931C>A (n.*3931C>A)
c.442C>A
c.839C>A (p.Ser280Ter)
c.461C>A (p.Ser154Ter)
c.464C>A (p.Ser155Ter)
c.5-27030C>A (n.5-27030C>A)
c.-43-16460C>A (n.-43-16460C>A)
c.-99+34290C>A (n.-99+34290C>A)
n.4284C>A
n.4325C>A
 dbSNP
17g.43090982A=CA2260781676BRCA1c.4147T= (p.Ser1383=)
c.4021T= (p.Ser1341=)
c.4144T= (p.Ser1382=)
c.4069T= (p.Ser1357=)
c.835T= (p.Ser279=)
c.697T= (p.Ser233=)
c.3259T= (p.Ser1087=)
c.4024T= (p.Ser1342=)
c.4006T= (p.Ser1336=)
c.715T= (p.Ser239=)
c.757T= (p.Ser253=)
c.468T=
c.721T= (p.Ser241=)
c.*3930T= (n.*3930T=)
c.441T=
c.838T= (p.Ser280=)
c.460T= (p.Ser154=)
c.463T= (p.Ser155=)
c.5-27031T= (n.5-27031T=)
c.-43-16461T= (n.-43-16461T=)
c.-99+34289T= (n.-99+34289T=)
n.4283T=
n.4324T=
17g.43090982A>CCA10593425BRCA1c.4147T>G (p.Ser1383Ala)
c.4021T>G (p.Ser1341Ala)
c.4144T>G (p.Ser1382Ala)
c.4069T>G (p.Ser1357Ala)
c.835T>G (p.Ser279Ala)
c.697T>G (p.Ser233Ala)
c.3259T>G (p.Ser1087Ala)
c.4024T>G (p.Ser1342Ala)
c.4006T>G (p.Ser1336Ala)
c.715T>G (p.Ser239Ala)
c.757T>G (p.Ser253Ala)
c.468T>G
c.721T>G (p.Ser241Ala)
c.*3930T>G (n.*3930T>G)
c.441T>G
c.838T>G (p.Ser280Ala)
c.460T>G (p.Ser154Ala)
c.463T>G (p.Ser155Ala)
c.5-27031T>G (n.5-27031T>G)
c.-43-16461T>G (n.-43-16461T>G)
c.-99+34289T>G (n.-99+34289T>G)
n.4283T>G
n.4324T>G
17g.43090982A>GCA10593426BRCA1c.4147T>C (p.Ser1383Pro)
c.4021T>C (p.Ser1341Pro)
c.4144T>C (p.Ser1382Pro)
c.4069T>C (p.Ser1357Pro)
c.835T>C (p.Ser279Pro)
c.697T>C (p.Ser233Pro)
c.3259T>C (p.Ser1087Pro)
c.4024T>C (p.Ser1342Pro)
c.4006T>C (p.Ser1336Pro)
c.715T>C (p.Ser239Pro)
c.757T>C (p.Ser253Pro)
c.468T>C
c.721T>C (p.Ser241Pro)
c.*3930T>C (n.*3930T>C)
c.441T>C
c.838T>C (p.Ser280Pro)
c.460T>C (p.Ser154Pro)
c.463T>C (p.Ser155Pro)
c.5-27031T>C (n.5-27031T>C)
c.-43-16461T>C (n.-43-16461T>C)
c.-99+34289T>C (n.-99+34289T>C)
n.4283T>C
n.4324T>C
 ClinVar dbSNP
17g.43090982A>TCA10593427BRCA1c.4147T>A (p.Ser1383Thr)
c.4021T>A (p.Ser1341Thr)
c.4144T>A (p.Ser1382Thr)
c.4069T>A (p.Ser1357Thr)
c.835T>A (p.Ser279Thr)
c.697T>A (p.Ser233Thr)
c.3259T>A (p.Ser1087Thr)
c.4024T>A (p.Ser1342Thr)
c.4006T>A (p.Ser1336Thr)
c.715T>A (p.Ser239Thr)
c.757T>A (p.Ser253Thr)
c.468T>A
c.721T>A (p.Ser241Thr)
c.*3930T>A (n.*3930T>A)
c.441T>A
c.838T>A (p.Ser280Thr)
c.460T>A (p.Ser154Thr)
c.463T>A (p.Ser155Thr)
c.5-27031T>A (n.5-27031T>A)
c.-43-16461T>A (n.-43-16461T>A)
c.-99+34289T>A (n.-99+34289T>A)
n.4283T>A
n.4324T>A
 dbSNP
17g.43090983G>ACA500122997BRCA1c.4146C>T (p.Cys1382=)
c.4020C>T (p.Cys1340=)
c.4143C>T (p.Cys1381=)
c.4068C>T (p.Cys1356=)
c.834C>T (p.Cys278=)
c.696C>T (p.Cys232=)
c.3258C>T (p.Cys1086=)
c.4023C>T (p.Cys1341=)
c.4005C>T (p.Cys1335=)
c.714C>T (p.Cys238=)
c.756C>T (p.Cys252=)
c.467C>T
c.720C>T (p.Cys240=)
c.*3929C>T (n.*3929C>T)
c.440C>T
c.837C>T (p.Cys279=)
c.459C>T (p.Cys153=)
c.462C>T (p.Cys154=)
c.5-27032C>T (n.5-27032C>T)
c.-43-16462C>T (n.-43-16462C>T)
c.-99+34288C>T (n.-99+34288C>T)
n.4282C>T
n.4323C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43090983G>CCA10593428BRCA1c.4146C>G (p.Cys1382Trp)
c.4020C>G (p.Cys1340Trp)
c.4143C>G (p.Cys1381Trp)
c.4068C>G (p.Cys1356Trp)
c.834C>G (p.Cys278Trp)
c.696C>G (p.Cys232Trp)
c.3258C>G (p.Cys1086Trp)
c.4023C>G (p.Cys1341Trp)
c.4005C>G (p.Cys1335Trp)
c.714C>G (p.Cys238Trp)
c.756C>G (p.Cys252Trp)
c.467C>G
c.720C>G (p.Cys240Trp)
c.*3929C>G (n.*3929C>G)
c.440C>G
c.837C>G (p.Cys279Trp)
c.459C>G (p.Cys153Trp)
c.462C>G (p.Cys154Trp)
c.5-27032C>G (n.5-27032C>G)
c.-43-16462C>G (n.-43-16462C>G)
c.-99+34288C>G (n.-99+34288C>G)
n.4282C>G
n.4323C>G
 dbSNP
17g.43090983G=CA2260781677BRCA1c.4146C= (p.Cys1382=)
c.4020C= (p.Cys1340=)
c.4143C= (p.Cys1381=)
c.4068C= (p.Cys1356=)
c.834C= (p.Cys278=)
c.696C= (p.Cys232=)
c.3258C= (p.Cys1086=)
c.4023C= (p.Cys1341=)
c.4005C= (p.Cys1335=)
c.714C= (p.Cys238=)
c.756C= (p.Cys252=)
c.467C=
c.720C= (p.Cys240=)
c.*3929C= (n.*3929C=)
c.440C=
c.837C= (p.Cys279=)
c.459C= (p.Cys153=)
c.462C= (p.Cys154=)
c.5-27032C= (n.5-27032C=)
c.-43-16462C= (n.-43-16462C=)
c.-99+34288C= (n.-99+34288C=)
n.4282C=
n.4323C=
17g.43090983G>TCA10593429BRCA1c.4146C>A (p.Cys1382Ter)
c.4020C>A (p.Cys1340Ter)
c.4143C>A (p.Cys1381Ter)
c.4068C>A (p.Cys1356Ter)
c.834C>A (p.Cys278Ter)
c.696C>A (p.Cys232Ter)
c.3258C>A (p.Cys1086Ter)
c.4023C>A (p.Cys1341Ter)
c.4005C>A (p.Cys1335Ter)
c.714C>A (p.Cys238Ter)
c.756C>A (p.Cys252Ter)
c.467C>A
c.720C>A (p.Cys240Ter)
c.*3929C>A (n.*3929C>A)
c.440C>A
c.837C>A (p.Cys279Ter)
c.459C>A (p.Cys153Ter)
c.462C>A (p.Cys154Ter)
c.5-27032C>A (n.5-27032C>A)
c.-43-16462C>A (n.-43-16462C>A)
c.-99+34288C>A (n.-99+34288C>A)
n.4282C>A
n.4323C>A
 ClinVar dbSNP
17g.43090984C>ACA10593430BRCA1c.4145G>T (p.Cys1382Phe)
c.4019G>T (p.Cys1340Phe)
c.4142G>T (p.Cys1381Phe)
c.4067G>T (p.Cys1356Phe)
c.833G>T (p.Cys278Phe)
c.695G>T (p.Cys232Phe)
c.3257G>T (p.Cys1086Phe)
c.4022G>T (p.Cys1341Phe)
c.4004G>T (p.Cys1335Phe)
c.713G>T (p.Cys238Phe)
c.755G>T (p.Cys252Phe)
c.466G>T
c.719G>T (p.Cys240Phe)
c.*3928G>T (n.*3928G>T)
c.439G>T
c.836G>T (p.Cys279Phe)
c.458G>T (p.Cys153Phe)
c.461G>T (p.Cys154Phe)
c.5-27033G>T (n.5-27033G>T)
c.-43-16463G>T (n.-43-16463G>T)
c.-99+34287G>T (n.-99+34287G>T)
n.4281G>T
n.4322G>T
 dbSNP
17g.43090984C>GCA10593431BRCA1c.4145G>C (p.Cys1382Ser)
c.4019G>C (p.Cys1340Ser)
c.4142G>C (p.Cys1381Ser)
c.4067G>C (p.Cys1356Ser)
c.833G>C (p.Cys278Ser)
c.695G>C (p.Cys232Ser)
c.3257G>C (p.Cys1086Ser)
c.4022G>C (p.Cys1341Ser)
c.4004G>C (p.Cys1335Ser)
c.713G>C (p.Cys238Ser)
c.755G>C (p.Cys252Ser)
c.466G>C
c.719G>C (p.Cys240Ser)
c.*3928G>C (n.*3928G>C)
c.439G>C
c.836G>C (p.Cys279Ser)
c.458G>C (p.Cys153Ser)
c.461G>C (p.Cys154Ser)
c.5-27033G>C (n.5-27033G>C)
c.-43-16463G>C (n.-43-16463G>C)
c.-99+34287G>C (n.-99+34287G>C)
n.4281G>C
n.4322G>C
 dbSNP
17g.43090984C>TCA10593432BRCA1c.4145G>A (p.Cys1382Tyr)
c.4019G>A (p.Cys1340Tyr)
c.4142G>A (p.Cys1381Tyr)
c.4067G>A (p.Cys1356Tyr)
c.833G>A (p.Cys278Tyr)
c.695G>A (p.Cys232Tyr)
c.3257G>A (p.Cys1086Tyr)
c.4022G>A (p.Cys1341Tyr)
c.4004G>A (p.Cys1335Tyr)
c.713G>A (p.Cys238Tyr)
c.755G>A (p.Cys252Tyr)
c.466G>A
c.719G>A (p.Cys240Tyr)
c.*3928G>A (n.*3928G>A)
c.439G>A
c.836G>A (p.Cys279Tyr)
c.458G>A (p.Cys153Tyr)
c.461G>A (p.Cys154Tyr)
c.5-27033G>A (n.5-27033G>A)
c.-43-16463G>A (n.-43-16463G>A)
c.-99+34287G>A (n.-99+34287G>A)
n.4281G>A
n.4322G>A
 dbSNP
17g.43090985A=CA2260781678BRCA1c.4144T= (p.Cys1382=)
c.4018T= (p.Cys1340=)
c.4141T= (p.Cys1381=)
c.4066T= (p.Cys1356=)
c.832T= (p.Cys278=)
c.694T= (p.Cys232=)
c.3256T= (p.Cys1086=)
c.4021T= (p.Cys1341=)
c.4003T= (p.Cys1335=)
c.712T= (p.Cys238=)
c.754T= (p.Cys252=)
c.465T=
c.718T= (p.Cys240=)
c.*3927T= (n.*3927T=)
c.438T=
c.835T= (p.Cys279=)
c.457T= (p.Cys153=)
c.460T= (p.Cys154=)
c.5-27034T= (n.5-27034T=)
c.-43-16464T= (n.-43-16464T=)
c.-99+34286T= (n.-99+34286T=)
n.4280T=
n.4321T=
17g.43090985A>CCA10593433BRCA1c.4144T>G (p.Cys1382Gly)
c.4018T>G (p.Cys1340Gly)
c.4141T>G (p.Cys1381Gly)
c.4066T>G (p.Cys1356Gly)
c.832T>G (p.Cys278Gly)
c.694T>G (p.Cys232Gly)
c.3256T>G (p.Cys1086Gly)
c.4021T>G (p.Cys1341Gly)
c.4003T>G (p.Cys1335Gly)
c.712T>G (p.Cys238Gly)
c.754T>G (p.Cys252Gly)
c.465T>G
c.718T>G (p.Cys240Gly)
c.*3927T>G (n.*3927T>G)
c.438T>G
c.835T>G (p.Cys279Gly)
c.457T>G (p.Cys153Gly)
c.460T>G (p.Cys154Gly)
c.5-27034T>G (n.5-27034T>G)
c.-43-16464T>G (n.-43-16464T>G)
c.-99+34286T>G (n.-99+34286T>G)
n.4280T>G
n.4321T>G
17g.43090985A>GCA10593434BRCA1c.4144T>C (p.Cys1382Arg)
c.4018T>C (p.Cys1340Arg)
c.4141T>C (p.Cys1381Arg)
c.4066T>C (p.Cys1356Arg)
c.832T>C (p.Cys278Arg)
c.694T>C (p.Cys232Arg)
c.3256T>C (p.Cys1086Arg)
c.4021T>C (p.Cys1341Arg)
c.4003T>C (p.Cys1335Arg)
c.712T>C (p.Cys238Arg)
c.754T>C (p.Cys252Arg)
c.465T>C
c.718T>C (p.Cys240Arg)
c.*3927T>C (n.*3927T>C)
c.438T>C
c.835T>C (p.Cys279Arg)
c.457T>C (p.Cys153Arg)
c.460T>C (p.Cys154Arg)
c.5-27034T>C (n.5-27034T>C)
c.-43-16464T>C (n.-43-16464T>C)
c.-99+34286T>C (n.-99+34286T>C)
n.4280T>C
n.4321T>C
17g.43090985A>TCA002655BRCA1c.4144T>A (p.Cys1382Ser)
c.4018T>A (p.Cys1340Ser)
c.4141T>A (p.Cys1381Ser)
c.4066T>A (p.Cys1356Ser)
c.832T>A (p.Cys278Ser)
c.694T>A (p.Cys232Ser)
c.3256T>A (p.Cys1086Ser)
c.4021T>A (p.Cys1341Ser)
c.4003T>A (p.Cys1335Ser)
c.712T>A (p.Cys238Ser)
c.754T>A (p.Cys252Ser)
c.465T>A
c.718T>A (p.Cys240Ser)
c.*3927T>A (n.*3927T>A)
c.438T>A
c.835T>A (p.Cys279Ser)
c.457T>A (p.Cys153Ser)
c.460T>A (p.Cys154Ser)
c.5-27034T>A (n.5-27034T>A)
c.-43-16464T>A (n.-43-16464T>A)
c.-99+34286T>A (n.-99+34286T>A)
n.4280T>A
n.4321T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43090986G>ACA500123003BRCA1c.4143C>T (p.Asp1381=)
c.4017C>T (p.Asp1339=)
c.4140C>T (p.Asp1380=)
c.4065C>T (p.Asp1355=)
c.831C>T (p.Asp277=)
c.693C>T (p.Asp231=)
c.3255C>T (p.Asp1085=)
c.4020C>T (p.Asp1340=)
c.4002C>T (p.Asp1334=)
c.711C>T (p.Asp237=)
c.753C>T (p.Asp251=)
c.464C>T
c.717C>T (p.Asp239=)
c.*3926C>T (n.*3926C>T)
c.437C>T
c.834C>T (p.Asp278=)
c.456C>T (p.Asp152=)
c.459C>T (p.Asp153=)
c.5-27035C>T (n.5-27035C>T)
c.-43-16465C>T (n.-43-16465C>T)
c.-99+34285C>T (n.-99+34285C>T)
n.4279C>T
n.4320C>T
 ClinVar dbSNP
17g.43090986G>CCA10593435BRCA1c.4143C>G (p.Asp1381Glu)
c.4017C>G (p.Asp1339Glu)
c.4140C>G (p.Asp1380Glu)
c.4065C>G (p.Asp1355Glu)
c.831C>G (p.Asp277Glu)
c.693C>G (p.Asp231Glu)
c.3255C>G (p.Asp1085Glu)
c.4020C>G (p.Asp1340Glu)
c.4002C>G (p.Asp1334Glu)
c.711C>G (p.Asp237Glu)
c.753C>G (p.Asp251Glu)
c.464C>G
c.717C>G (p.Asp239Glu)
c.*3926C>G (n.*3926C>G)
c.437C>G
c.834C>G (p.Asp278Glu)
c.456C>G (p.Asp152Glu)
c.459C>G (p.Asp153Glu)
c.5-27035C>G (n.5-27035C>G)
c.-43-16465C>G (n.-43-16465C>G)
c.-99+34285C>G (n.-99+34285C>G)
n.4279C>G
n.4320C>G
 ClinVar dbSNP gnomAD v4
17g.43090986G=CA2260781679BRCA1c.4143C= (p.Asp1381=)
c.4017C= (p.Asp1339=)
c.4140C= (p.Asp1380=)
c.4065C= (p.Asp1355=)
c.831C= (p.Asp277=)
c.693C= (p.Asp231=)
c.3255C= (p.Asp1085=)
c.4020C= (p.Asp1340=)
c.4002C= (p.Asp1334=)
c.711C= (p.Asp237=)
c.753C= (p.Asp251=)
c.464C=
c.717C= (p.Asp239=)
c.*3926C= (n.*3926C=)
c.437C=
c.834C= (p.Asp278=)
c.456C= (p.Asp152=)
c.459C= (p.Asp153=)
c.5-27035C= (n.5-27035C=)
c.-43-16465C= (n.-43-16465C=)
c.-99+34285C= (n.-99+34285C=)
n.4279C=
n.4320C=
17g.43090986G>TCA10593436BRCA1c.4143C>A (p.Asp1381Glu)
c.4017C>A (p.Asp1339Glu)
c.4140C>A (p.Asp1380Glu)
c.4065C>A (p.Asp1355Glu)
c.831C>A (p.Asp277Glu)
c.693C>A (p.Asp231Glu)
c.3255C>A (p.Asp1085Glu)
c.4020C>A (p.Asp1340Glu)
c.4002C>A (p.Asp1334Glu)
c.711C>A (p.Asp237Glu)
c.753C>A (p.Asp251Glu)
c.464C>A
c.717C>A (p.Asp239Glu)
c.*3926C>A (n.*3926C>A)
c.437C>A
c.834C>A (p.Asp278Glu)
c.456C>A (p.Asp152Glu)
c.459C>A (p.Asp153Glu)
c.5-27035C>A (n.5-27035C>A)
c.-43-16465C>A (n.-43-16465C>A)
c.-99+34285C>A (n.-99+34285C>A)
n.4279C>A
n.4320C>A
 ClinVar
17g.43090987T>ACA10593437BRCA1c.4142A>T (p.Asp1381Val)
c.4016A>T (p.Asp1339Val)
c.4139A>T (p.Asp1380Val)
c.4064A>T (p.Asp1355Val)
c.830A>T (p.Asp277Val)
c.692A>T (p.Asp231Val)
c.3254A>T (p.Asp1085Val)
c.4019A>T (p.Asp1340Val)
c.4001A>T (p.Asp1334Val)
c.710A>T (p.Asp237Val)
c.752A>T (p.Asp251Val)
c.463A>T
c.716A>T (p.Asp239Val)
c.*3925A>T (n.*3925A>T)
c.436A>T
c.833A>T (p.Asp278Val)
c.455A>T (p.Asp152Val)
c.458A>T (p.Asp153Val)
c.5-27036A>T (n.5-27036A>T)
c.-43-16466A>T (n.-43-16466A>T)
c.-99+34284A>T (n.-99+34284A>T)
n.4278A>T
n.4319A>T
 dbSNP
17g.43090987T>CCA10593438BRCA1c.4142A>G (p.Asp1381Gly)
c.4016A>G (p.Asp1339Gly)
c.4139A>G (p.Asp1380Gly)
c.4064A>G (p.Asp1355Gly)
c.830A>G (p.Asp277Gly)
c.692A>G (p.Asp231Gly)
c.3254A>G (p.Asp1085Gly)
c.4019A>G (p.Asp1340Gly)
c.4001A>G (p.Asp1334Gly)
c.710A>G (p.Asp237Gly)
c.752A>G (p.Asp251Gly)
c.463A>G
c.716A>G (p.Asp239Gly)
c.*3925A>G (n.*3925A>G)
c.436A>G
c.833A>G (p.Asp278Gly)
c.455A>G (p.Asp152Gly)
c.458A>G (p.Asp153Gly)
c.5-27036A>G (n.5-27036A>G)
c.-43-16466A>G (n.-43-16466A>G)
c.-99+34284A>G (n.-99+34284A>G)
n.4278A>G
n.4319A>G
 dbSNP
17g.43090987T>GCA10593439BRCA1c.4142A>C (p.Asp1381Ala)
c.4016A>C (p.Asp1339Ala)
c.4139A>C (p.Asp1380Ala)
c.4064A>C (p.Asp1355Ala)
c.830A>C (p.Asp277Ala)
c.692A>C (p.Asp231Ala)
c.3254A>C (p.Asp1085Ala)
c.4019A>C (p.Asp1340Ala)
c.4001A>C (p.Asp1334Ala)
c.710A>C (p.Asp237Ala)
c.752A>C (p.Asp251Ala)
c.463A>C
c.716A>C (p.Asp239Ala)
c.*3925A>C (n.*3925A>C)
c.436A>C
c.833A>C (p.Asp278Ala)
c.455A>C (p.Asp152Ala)
c.458A>C (p.Asp153Ala)
c.5-27036A>C (n.5-27036A>C)
c.-43-16466A>C (n.-43-16466A>C)
c.-99+34284A>C (n.-99+34284A>C)
n.4278A>C
n.4319A>C
 dbSNP
17g.43090988C>ACA10593440BRCA1c.4141G>T (p.Asp1381Tyr)
c.4015G>T (p.Asp1339Tyr)
c.4138G>T (p.Asp1380Tyr)
c.4063G>T (p.Asp1355Tyr)
c.829G>T (p.Asp277Tyr)
c.691G>T (p.Asp231Tyr)
c.3253G>T (p.Asp1085Tyr)
c.4018G>T (p.Asp1340Tyr)
c.4000G>T (p.Asp1334Tyr)
c.709G>T (p.Asp237Tyr)
c.751G>T (p.Asp251Tyr)
c.462G>T
c.715G>T (p.Asp239Tyr)
c.*3924G>T (n.*3924G>T)
c.435G>T
c.832G>T (p.Asp278Tyr)
c.454G>T (p.Asp152Tyr)
c.457G>T (p.Asp153Tyr)
c.5-27037G>T (n.5-27037G>T)
c.-43-16467G>T (n.-43-16467G>T)
c.-99+34283G>T (n.-99+34283G>T)
n.4277G>T
n.4318G>T
 dbSNP
17g.43090988C>GCA10593441BRCA1c.4141G>C (p.Asp1381His)
c.4015G>C (p.Asp1339His)
c.4138G>C (p.Asp1380His)
c.4063G>C (p.Asp1355His)
c.829G>C (p.Asp277His)
c.691G>C (p.Asp231His)
c.3253G>C (p.Asp1085His)
c.4018G>C (p.Asp1340His)
c.4000G>C (p.Asp1334His)
c.709G>C (p.Asp237His)
c.751G>C (p.Asp251His)
c.462G>C
c.715G>C (p.Asp239His)
c.*3924G>C (n.*3924G>C)
c.435G>C
c.832G>C (p.Asp278His)
c.454G>C (p.Asp152His)
c.457G>C (p.Asp153His)
c.5-27037G>C (n.5-27037G>C)
c.-43-16467G>C (n.-43-16467G>C)
c.-99+34283G>C (n.-99+34283G>C)
n.4277G>C
n.4318G>C
 dbSNP
17g.43090988C>TCA10593442BRCA1c.4141G>A (p.Asp1381Asn)
c.4015G>A (p.Asp1339Asn)
c.4138G>A (p.Asp1380Asn)
c.4063G>A (p.Asp1355Asn)
c.829G>A (p.Asp277Asn)
c.691G>A (p.Asp231Asn)
c.3253G>A (p.Asp1085Asn)
c.4018G>A (p.Asp1340Asn)
c.4000G>A (p.Asp1334Asn)
c.709G>A (p.Asp237Asn)
c.751G>A (p.Asp251Asn)
c.462G>A
c.715G>A (p.Asp239Asn)
c.*3924G>A (n.*3924G>A)
c.435G>A
c.832G>A (p.Asp278Asn)
c.454G>A (p.Asp152Asn)
c.457G>A (p.Asp153Asn)
c.5-27037G>A (n.5-27037G>A)
c.-43-16467G>A (n.-43-16467G>A)
c.-99+34283G>A (n.-99+34283G>A)
n.4277G>A
n.4318G>A
 dbSNP
17g.43090988_43090990delinsCTTCA2260781680BRCA1c.4139_4141delinsAAG (p.Glu1380=)
c.4013_4015delinsAAG (p.Glu1338=)
c.4136_4138delinsAAG (p.Glu1379=)
c.4061_4063delinsAAG (p.Glu1354=)
c.827_829delinsAAG (p.Glu276=)
c.689_691delinsAAG (p.Glu230=)
c.3251_3253delinsAAG (p.Glu1084=)
c.4016_4018delinsAAG (p.Glu1339=)
c.3998_4000delinsAAG (p.Glu1333=)
c.707_709delinsAAG (p.Glu236=)
c.749_751delinsAAG (p.Glu250=)
c.460_462delinsAAG
c.713_715delinsAAG (p.Glu238=)
c.*3922_*3924delinsAAG (n.*3922_*3924delinsAAG)
c.433_435delinsAAG
c.830_832delinsAAG (p.Glu277=)
c.452_454delinsAAG (p.Glu151=)
c.455_457delinsAAG (p.Glu152=)
c.5-27039_5-27037delinsAAG (n.5-27039_5-27037delinsAAG)
c.-43-16469_-43-16467delinsAAG (n.-43-16469_-43-16467delinsAAG)
c.-99+34281_-99+34283delinsAAG (n.-99+34281_-99+34283delinsAAG)
n.4275_4277delinsAAG
n.4316_4318delinsAAG
17g.43090989T>ACA10593443BRCA1c.4140A>T (p.Glu1380Asp)
c.4014A>T (p.Glu1338Asp)
c.4137A>T (p.Glu1379Asp)
c.4062A>T (p.Glu1354Asp)
c.828A>T (p.Glu276Asp)
c.690A>T (p.Glu230Asp)
c.3252A>T (p.Glu1084Asp)
c.4017A>T (p.Glu1339Asp)
c.3999A>T (p.Glu1333Asp)
c.708A>T (p.Glu236Asp)
c.750A>T (p.Glu250Asp)
c.461A>T
c.714A>T (p.Glu238Asp)
c.*3923A>T (n.*3923A>T)
c.434A>T
c.831A>T (p.Glu277Asp)
c.453A>T (p.Glu151Asp)
c.456A>T (p.Glu152Asp)
c.5-27038A>T (n.5-27038A>T)
c.-43-16468A>T (n.-43-16468A>T)
c.-99+34282A>T (n.-99+34282A>T)
n.4276A>T
n.4317A>T
 dbSNP
17g.43090989T>CCA500123014BRCA1c.4140A>G (p.Glu1380=)
c.4014A>G (p.Glu1338=)
c.4137A>G (p.Glu1379=)
c.4062A>G (p.Glu1354=)
c.828A>G (p.Glu276=)
c.690A>G (p.Glu230=)
c.3252A>G (p.Glu1084=)
c.4017A>G (p.Glu1339=)
c.3999A>G (p.Glu1333=)
c.708A>G (p.Glu236=)
c.750A>G (p.Glu250=)
c.461A>G
c.714A>G (p.Glu238=)
c.*3923A>G (n.*3923A>G)
c.434A>G
c.831A>G (p.Glu277=)
c.453A>G (p.Glu151=)
c.456A>G (p.Glu152=)
c.5-27038A>G (n.5-27038A>G)
c.-43-16468A>G (n.-43-16468A>G)
c.-99+34282A>G (n.-99+34282A>G)
n.4276A>G
n.4317A>G
 dbSNP
17g.43090989T>GCA10593444BRCA1c.4140A>C (p.Glu1380Asp)
c.4014A>C (p.Glu1338Asp)
c.4137A>C (p.Glu1379Asp)
c.4062A>C (p.Glu1354Asp)
c.828A>C (p.Glu276Asp)
c.690A>C (p.Glu230Asp)
c.3252A>C (p.Glu1084Asp)
c.4017A>C (p.Glu1339Asp)
c.3999A>C (p.Glu1333Asp)
c.708A>C (p.Glu236Asp)
c.750A>C (p.Glu250Asp)
c.461A>C
c.714A>C (p.Glu238Asp)
c.*3923A>C (n.*3923A>C)
c.434A>C
c.831A>C (p.Glu277Asp)
c.453A>C (p.Glu151Asp)
c.456A>C (p.Glu152Asp)
c.5-27038A>C (n.5-27038A>C)
c.-43-16468A>C (n.-43-16468A>C)
c.-99+34282A>C (n.-99+34282A>C)
n.4276A>C
n.4317A>C
17g.43090989_43090990delCA10586611BRCA1c.4139_4140del (p.Glu1380GlyfsTer10)
c.4013_4014del (p.Glu1338GlyfsTer10)
c.4136_4137del (p.Glu1379GlyfsTer10)
c.4061_4062del (p.Glu1354GlyfsTer10)
c.827_828del (p.Glu276GlyfsTer10)
c.689_690del (p.Glu230GlyfsTer10)
c.3251_3252del (p.Glu1084GlyfsTer10)
c.4016_4017del (p.Glu1339GlyfsTer10)
c.3998_3999del (p.Glu1333GlyfsTer10)
c.707_708del (p.Glu236GlyfsTer10)
c.749_750del (p.Glu250GlyfsTer10)
c.460_461del
c.713_714del (p.Glu238GlyfsTer10)
c.*3922_*3923del (n.*3922_*3923del)
c.433_434del
c.830_831del (p.Glu277GlyfsTer10)
c.452_453del (p.Glu151GlyfsTer10)
c.455_456del (p.Glu152GlyfsTer10)
c.5-27039_5-27038del (n.5-27039_5-27038del)
c.-43-16469_-43-16468del (n.-43-16469_-43-16468del)
c.-99+34281_-99+34282del (n.-99+34281_-99+34282del)
n.4275_4276del
n.4316_4317del
 ClinVar dbSNP
17g.43090990T>ACA10593445BRCA1c.4139A>T (p.Glu1380Val)
c.4013A>T (p.Glu1338Val)
c.4136A>T (p.Glu1379Val)
c.4061A>T (p.Glu1354Val)
c.827A>T (p.Glu276Val)
c.689A>T (p.Glu230Val)
c.3251A>T (p.Glu1084Val)
c.4016A>T (p.Glu1339Val)
c.3998A>T (p.Glu1333Val)
c.707A>T (p.Glu236Val)
c.749A>T (p.Glu250Val)
c.460A>T
c.713A>T (p.Glu238Val)
c.*3922A>T (n.*3922A>T)
c.433A>T
c.830A>T (p.Glu277Val)
c.452A>T (p.Glu151Val)
c.455A>T (p.Glu152Val)
c.5-27039A>T (n.5-27039A>T)
c.-43-16469A>T (n.-43-16469A>T)
c.-99+34281A>T (n.-99+34281A>T)
n.4275A>T
n.4316A>T
17g.43090990T>CCA10593446BRCA1c.4139A>G (p.Glu1380Gly)
c.4013A>G (p.Glu1338Gly)
c.4136A>G (p.Glu1379Gly)
c.4061A>G (p.Glu1354Gly)
c.827A>G (p.Glu276Gly)
c.689A>G (p.Glu230Gly)
c.3251A>G (p.Glu1084Gly)
c.4016A>G (p.Glu1339Gly)
c.3998A>G (p.Glu1333Gly)
c.707A>G (p.Glu236Gly)
c.749A>G (p.Glu250Gly)
c.460A>G
c.713A>G (p.Glu238Gly)
c.*3922A>G (n.*3922A>G)
c.433A>G
c.830A>G (p.Glu277Gly)
c.452A>G (p.Glu151Gly)
c.455A>G (p.Glu152Gly)
c.5-27039A>G (n.5-27039A>G)
c.-43-16469A>G (n.-43-16469A>G)
c.-99+34281A>G (n.-99+34281A>G)
n.4275A>G
n.4316A>G
17g.43090990T>GCA10593447BRCA1c.4139A>C (p.Glu1380Ala)
c.4013A>C (p.Glu1338Ala)
c.4136A>C (p.Glu1379Ala)
c.4061A>C (p.Glu1354Ala)
c.827A>C (p.Glu276Ala)
c.689A>C (p.Glu230Ala)
c.3251A>C (p.Glu1084Ala)
c.4016A>C (p.Glu1339Ala)
c.3998A>C (p.Glu1333Ala)
c.707A>C (p.Glu236Ala)
c.749A>C (p.Glu250Ala)
c.460A>C
c.713A>C (p.Glu238Ala)
c.*3922A>C (n.*3922A>C)
c.433A>C
c.830A>C (p.Glu277Ala)
c.452A>C (p.Glu151Ala)
c.455A>C (p.Glu152Ala)
c.5-27039A>C (n.5-27039A>C)
c.-43-16469A>C (n.-43-16469A>C)
c.-99+34281A>C (n.-99+34281A>C)
n.4275A>C
n.4316A>C
17g.43090990_43090992delinsTCACA2260781681BRCA1c.4137_4139delinsTGA (p.Ser1379=)
c.4011_4013delinsTGA (p.Ser1337=)
c.4134_4136delinsTGA (p.Ser1378=)
c.4059_4061delinsTGA (p.Ser1353=)
c.825_827delinsTGA (p.Ser275=)
c.687_689delinsTGA (p.Ser229=)
c.3249_3251delinsTGA (p.Ser1083=)
c.4014_4016delinsTGA (p.Ser1338=)
c.3996_3998delinsTGA (p.Ser1332=)
c.705_707delinsTGA (p.Ser235=)
c.747_749delinsTGA (p.Ser249=)
c.458_460delinsTGA
c.711_713delinsTGA (p.Ser237=)
c.*3920_*3922delinsTGA (n.*3920_*3922delinsTGA)
c.431_433delinsTGA
c.828_830delinsTGA (p.Ser276=)
c.450_452delinsTGA (p.Ser150=)
c.453_455delinsTGA (p.Ser151=)
c.5-27041_5-27039delinsTGA (n.5-27041_5-27039delinsTGA)
c.-43-16471_-43-16469delinsTGA (n.-43-16471_-43-16469delinsTGA)
c.-99+34279_-99+34281delinsTGA (n.-99+34279_-99+34281delinsTGA)
n.4273_4275delinsTGA
n.4314_4316delinsTGA
17g.43090991C>ACA10593448BRCA1c.4138G>T (p.Glu1380Ter)
c.4012G>T (p.Glu1338Ter)
c.4135G>T (p.Glu1379Ter)
c.4060G>T (p.Glu1354Ter)
c.826G>T (p.Glu276Ter)
c.688G>T (p.Glu230Ter)
c.3250G>T (p.Glu1084Ter)
c.4015G>T (p.Glu1339Ter)
c.3997G>T (p.Glu1333Ter)
c.706G>T (p.Glu236Ter)
c.748G>T (p.Glu250Ter)
c.459G>T
c.712G>T (p.Glu238Ter)
c.*3921G>T (n.*3921G>T)
c.432G>T
c.829G>T (p.Glu277Ter)
c.451G>T (p.Glu151Ter)
c.454G>T (p.Glu152Ter)
c.5-27040G>T (n.5-27040G>T)
c.-43-16470G>T (n.-43-16470G>T)
c.-99+34280G>T (n.-99+34280G>T)
n.4274G>T
n.4315G>T
 dbSNP
17g.43090991C=CA2260781684BRCA1c.4138G= (p.Glu1380=)
c.4012G= (p.Glu1338=)
c.4135G= (p.Glu1379=)
c.4060G= (p.Glu1354=)
c.826G= (p.Glu276=)
c.688G= (p.Glu230=)
c.3250G= (p.Glu1084=)
c.4015G= (p.Glu1339=)
c.3997G= (p.Glu1333=)
c.706G= (p.Glu236=)
c.748G= (p.Glu250=)
c.459G=
c.712G= (p.Glu238=)
c.*3921G= (n.*3921G=)
c.432G=
c.829G= (p.Glu277=)
c.451G= (p.Glu151=)
c.454G= (p.Glu152=)
c.5-27040G= (n.5-27040G=)
c.-43-16470G= (n.-43-16470G=)
c.-99+34280G= (n.-99+34280G=)
n.4274G=
n.4315G=
17g.43090991C>GCA10593449BRCA1c.4138G>C (p.Glu1380Gln)
c.4012G>C (p.Glu1338Gln)
c.4135G>C (p.Glu1379Gln)
c.4060G>C (p.Glu1354Gln)
c.826G>C (p.Glu276Gln)
c.688G>C (p.Glu230Gln)
c.3250G>C (p.Glu1084Gln)
c.4015G>C (p.Glu1339Gln)
c.3997G>C (p.Glu1333Gln)
c.706G>C (p.Glu236Gln)
c.748G>C (p.Glu250Gln)
c.459G>C
c.712G>C (p.Glu238Gln)
c.*3921G>C (n.*3921G>C)
c.432G>C
c.829G>C (p.Glu277Gln)
c.451G>C (p.Glu151Gln)
c.454G>C (p.Glu152Gln)
c.5-27040G>C (n.5-27040G>C)
c.-43-16470G>C (n.-43-16470G>C)
c.-99+34280G>C (n.-99+34280G>C)
n.4274G>C
n.4315G>C
 dbSNP
17g.43090991C>TCA10593450BRCA1c.4138G>A (p.Glu1380Lys)
c.4012G>A (p.Glu1338Lys)
c.4135G>A (p.Glu1379Lys)
c.4060G>A (p.Glu1354Lys)
c.826G>A (p.Glu276Lys)
c.688G>A (p.Glu230Lys)
c.3250G>A (p.Glu1084Lys)
c.4015G>A (p.Glu1339Lys)
c.3997G>A (p.Glu1333Lys)
c.706G>A (p.Glu236Lys)
c.748G>A (p.Glu250Lys)
c.459G>A
c.712G>A (p.Glu238Lys)
c.*3921G>A (n.*3921G>A)
c.432G>A
c.829G>A (p.Glu277Lys)
c.451G>A (p.Glu151Lys)
c.454G>A (p.Glu152Lys)
c.5-27040G>A (n.5-27040G>A)
c.-43-16470G>A (n.-43-16470G>A)
c.-99+34280G>A (n.-99+34280G>A)
n.4274G>A
n.4315G>A
 ClinVar dbSNP gnomAD v4
17g.43090991dupCA2697559874BRCA1c.4138dup (p.Glu1380GlyfsTer11)
c.4012dup (p.Glu1338GlyfsTer11)
c.4135dup (p.Glu1379GlyfsTer11)
c.4060dup (p.Glu1354GlyfsTer11)
c.826dup (p.Glu276GlyfsTer11)
c.688dup (p.Glu230GlyfsTer11)
c.3250dup (p.Glu1084GlyfsTer11)
c.4015dup (p.Glu1339GlyfsTer11)
c.3997dup (p.Glu1333GlyfsTer11)
c.706dup (p.Glu236GlyfsTer11)
c.748dup (p.Glu250GlyfsTer11)
c.459dup
c.712dup (p.Glu238GlyfsTer11)
c.*3921dup (n.*3921dup)
c.432dup
c.829dup (p.Glu277GlyfsTer11)
c.451dup (p.Glu151GlyfsTer11)
c.454dup (p.Glu152GlyfsTer11)
c.5-27040dup (n.5-27040dup)
c.-43-16470dup (n.-43-16470dup)
c.-99+34280dup (n.-99+34280dup)
n.4274dup
n.4315dup
 ClinVar
17g.43090991_43090992delCA10589686BRCA1c.4137_4138del (p.Glu1380ArgfsTer10)
c.4011_4012del (p.Glu1338ArgfsTer10)
c.4134_4135del (p.Glu1379ArgfsTer10)
c.4059_4060del (p.Glu1354ArgfsTer10)
c.825_826del (p.Glu276ArgfsTer10)
c.687_688del (p.Glu230ArgfsTer10)
c.3249_3250del (p.Glu1084ArgfsTer10)
c.4014_4015del (p.Glu1339ArgfsTer10)
c.3996_3997del (p.Glu1333ArgfsTer10)
c.705_706del (p.Glu236ArgfsTer10)
c.747_748del (p.Glu250ArgfsTer10)
c.458_459del
c.711_712del (p.Glu238ArgfsTer10)
c.*3920_*3921del (n.*3920_*3921del)
c.431_432del
c.828_829del (p.Glu277ArgfsTer10)
c.450_451del (p.Glu151ArgfsTer10)
c.453_454del (p.Glu152ArgfsTer10)
c.5-27041_5-27040del (n.5-27041_5-27040del)
c.-43-16471_-43-16470del (n.-43-16471_-43-16470del)
c.-99+34279_-99+34280del (n.-99+34279_-99+34280del)
n.4273_4274del
n.4314_4315del
 ClinVar dbSNP gnomAD v4
17g.43090991_43090992delinsCACA2260781683BRCA1c.4137_4138delinsTG (p.Ser1379=)
c.4011_4012delinsTG (p.Ser1337=)
c.4134_4135delinsTG (p.Ser1378=)
c.4059_4060delinsTG (p.Ser1353=)
c.825_826delinsTG (p.Ser275=)
c.687_688delinsTG (p.Ser229=)
c.3249_3250delinsTG (p.Ser1083=)
c.4014_4015delinsTG (p.Ser1338=)
c.3996_3997delinsTG (p.Ser1332=)
c.705_706delinsTG (p.Ser235=)
c.747_748delinsTG (p.Ser249=)
c.458_459delinsTG
c.711_712delinsTG (p.Ser237=)
c.*3920_*3921delinsTG (n.*3920_*3921delinsTG)
c.431_432delinsTG
c.828_829delinsTG (p.Ser276=)
c.450_451delinsTG (p.Ser150=)
c.453_454delinsTG (p.Ser151=)
c.5-27041_5-27040delinsTG (n.5-27041_5-27040delinsTG)
c.-43-16471_-43-16470delinsTG (n.-43-16471_-43-16470delinsTG)
c.-99+34279_-99+34280delinsTG (n.-99+34279_-99+34280delinsTG)
n.4273_4274delinsTG
n.4314_4315delinsTG
17g.43090991_43090993delinsCAGCA2260781682BRCA1c.4136_4138delinsCTG (p.Ser1379=)
c.4010_4012delinsCTG (p.Ser1337=)
c.4133_4135delinsCTG (p.Ser1378=)
c.4058_4060delinsCTG (p.Ser1353=)
c.824_826delinsCTG (p.Ser275=)
c.686_688delinsCTG (p.Ser229=)
c.3248_3250delinsCTG (p.Ser1083=)
c.4013_4015delinsCTG (p.Ser1338=)
c.3995_3997delinsCTG (p.Ser1332=)
c.704_706delinsCTG (p.Ser235=)
c.746_748delinsCTG (p.Ser249=)
c.457_459delinsCTG
c.710_712delinsCTG (p.Ser237=)
c.*3919_*3921delinsCTG (n.*3919_*3921delinsCTG)
c.430_432delinsCTG
c.827_829delinsCTG (p.Ser276=)
c.449_451delinsCTG (p.Ser150=)
c.452_454delinsCTG (p.Ser151=)
c.5-27042_5-27040delinsCTG (n.5-27042_5-27040delinsCTG)
c.-43-16472_-43-16470delinsCTG (n.-43-16472_-43-16470delinsCTG)
c.-99+34278_-99+34280delinsCTG (n.-99+34278_-99+34280delinsCTG)
n.4272_4274delinsCTG
n.4313_4315delinsCTG
17g.43090992delCA16620426BRCA1c.4137del (p.Glu1380LysfsTer13)
c.4011del (p.Glu1338LysfsTer13)
c.4134del (p.Glu1379LysfsTer13)
c.4059del (p.Glu1354LysfsTer13)
c.825del (p.Glu276LysfsTer13)
c.687del (p.Glu230LysfsTer13)
c.3249del (p.Glu1084LysfsTer13)
c.4014del (p.Glu1339LysfsTer13)
c.3996del (p.Glu1333LysfsTer13)
c.705del (p.Glu236LysfsTer13)
c.747del (p.Glu250LysfsTer13)
c.458del
c.711del (p.Glu238LysfsTer13)
c.*3920del (n.*3920del)
c.431del
c.828del (p.Glu277LysfsTer13)
c.450del (p.Glu151LysfsTer13)
c.453del (p.Glu152LysfsTer13)
c.5-27041del (n.5-27041del)
c.-43-16471del (n.-43-16471del)
c.-99+34279del (n.-99+34279del)
n.4273del
n.4314del
 ClinVar dbSNP
17g.43090992A=CA2260781685BRCA1c.4137T= (p.Ser1379=)
c.4011T= (p.Ser1337=)
c.4134T= (p.Ser1378=)
c.4059T= (p.Ser1353=)
c.825T= (p.Ser275=)
c.687T= (p.Ser229=)
c.3249T= (p.Ser1083=)
c.4014T= (p.Ser1338=)
c.3996T= (p.Ser1332=)
c.705T= (p.Ser235=)
c.747T= (p.Ser249=)
c.458T=
c.711T= (p.Ser237=)
c.*3920T= (n.*3920T=)
c.431T=
c.828T= (p.Ser276=)
c.450T= (p.Ser150=)
c.453T= (p.Ser151=)
c.5-27041T= (n.5-27041T=)
c.-43-16471T= (n.-43-16471T=)
c.-99+34279T= (n.-99+34279T=)
n.4273T=
n.4314T=
17g.43090992A>CCA500123023BRCA1c.4137T>G (p.Ser1379=)
c.4011T>G (p.Ser1337=)
c.4134T>G (p.Ser1378=)
c.4059T>G (p.Ser1353=)
c.825T>G (p.Ser275=)
c.687T>G (p.Ser229=)
c.3249T>G (p.Ser1083=)
c.4014T>G (p.Ser1338=)
c.3996T>G (p.Ser1332=)
c.705T>G (p.Ser235=)
c.747T>G (p.Ser249=)
c.458T>G
c.711T>G (p.Ser237=)
c.*3920T>G (n.*3920T>G)
c.431T>G
c.828T>G (p.Ser276=)
c.450T>G (p.Ser150=)
c.453T>G (p.Ser151=)
c.5-27041T>G (n.5-27041T>G)
c.-43-16471T>G (n.-43-16471T>G)
c.-99+34279T>G (n.-99+34279T>G)
n.4273T>G
n.4314T>G
17g.43090992A>GCA16607616BRCA1c.4137T>C (p.Ser1379=)
c.4011T>C (p.Ser1337=)
c.4134T>C (p.Ser1378=)
c.4059T>C (p.Ser1353=)
c.825T>C (p.Ser275=)
c.687T>C (p.Ser229=)
c.3249T>C (p.Ser1083=)
c.4014T>C (p.Ser1338=)
c.3996T>C (p.Ser1332=)
c.705T>C (p.Ser235=)
c.747T>C (p.Ser249=)
c.458T>C
c.711T>C (p.Ser237=)
c.*3920T>C (n.*3920T>C)
c.431T>C
c.828T>C (p.Ser276=)
c.450T>C (p.Ser150=)
c.453T>C (p.Ser151=)
c.5-27041T>C (n.5-27041T>C)
c.-43-16471T>C (n.-43-16471T>C)
c.-99+34279T>C (n.-99+34279T>C)
n.4273T>C
n.4314T>C
 ClinVar dbSNP gnomAD v4
17g.43090992A>TCA500123025BRCA1c.4137T>A (p.Ser1379=)
c.4011T>A (p.Ser1337=)
c.4134T>A (p.Ser1378=)
c.4059T>A (p.Ser1353=)
c.825T>A (p.Ser275=)
c.687T>A (p.Ser229=)
c.3249T>A (p.Ser1083=)
c.4014T>A (p.Ser1338=)
c.3996T>A (p.Ser1332=)
c.705T>A (p.Ser235=)
c.747T>A (p.Ser249=)
c.458T>A
c.711T>A (p.Ser237=)
c.*3920T>A (n.*3920T>A)
c.431T>A
c.828T>A (p.Ser276=)
c.450T>A (p.Ser150=)
c.453T>A (p.Ser151=)
c.5-27041T>A (n.5-27041T>A)
c.-43-16471T>A (n.-43-16471T>A)
c.-99+34279T>A (n.-99+34279T>A)
n.4273T>A
n.4314T>A
 dbSNP
17g.43090995_43090996delCA002654BRCA1c.4136_4137del (p.Ser1379Ter)
c.4010_4011del (p.Ser1337Ter)
c.4133_4134del (p.Ser1378Ter)
c.4058_4059del (p.Ser1353Ter)
c.824_825del (p.Ser275Ter)
c.686_687del (p.Ser229Ter)
c.3248_3249del (p.Ser1083Ter)
c.4013_4014del (p.Ser1338Ter)
c.3995_3996del (p.Ser1332Ter)
c.704_705del (p.Ser235Ter)
c.746_747del (p.Ser249Ter)
c.457_458del
c.710_711del (p.Ser237Ter)
c.*3919_*3920del (n.*3919_*3920del)
c.430_431del
c.827_828del (p.Ser276Ter)
c.449_450del (p.Ser150Ter)
c.452_453del (p.Ser151Ter)
c.5-27042_5-27041del (n.5-27042_5-27041del)
c.-43-16472_-43-16471del (n.-43-16472_-43-16471del)
c.-99+34278_-99+34279del (n.-99+34278_-99+34279del)
n.4272_4273del
n.4313_4314del
 ClinVar dbSNP

Number of alleles fetched