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.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.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.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.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.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.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

Number of alleles fetched