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.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.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.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

Number of alleles fetched