Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084852_43094147delCA645369660BRCA1c.1385_4186-2276del
c.1259_4060-2276del
c.1382_4183-2279del
c.1307_4108-2276del
c.784+598_874-2276del
c.646+598_736-2276del
c.497_3298-2276del
c.1262_4063-2276del
c.1244_4045-2276del
c.664+598_754-2279del
c.706+598_796-2276del
c.670+1700_760-2276del
c.*1168_*3969-2276del
c.787+598_877-2276del
c.409+598_499-2276del
c.412+598_502-2276del
c.5-30195_5-20900del (n.5-30195_5-20900del)
c.-43-19625_-43-10330del (n.-43-19625_-43-10330del)
c.-99+31125_-98-34661del (n.-99+31125_-98-34661del)
n.1521_4322-2276del
n.1562_4363-2276del
 ClinVar
17g.43090874_43091110delinsGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATCA2260781584BRCA1c.4097-78_4185+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3971-78_4059+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.4094-78_4182+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.4019-78_4107+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.785-78_873+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.647-78_735+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3209-78_3297+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3974-78_4062+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.3956-78_4044+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.665-78_753+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.707-78_795+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.418-78_506+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.671-78_759+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.*3880-78_*3968+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.391-78_479+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.788-78_876+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.410-78_498+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.413-78_501+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
c.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
c.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
c.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC)
n.4233-78_4321+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
n.4274-78_4362+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC
17g.43090878_43091113delCA10602594BRCA1c.4097-78_4185+69del
c.3971-78_4059+69del
c.4094-78_4182+69del
c.4019-78_4107+69del
c.785-78_873+69del
c.647-78_735+69del
c.3209-78_3297+69del
c.3974-78_4062+69del
c.3956-78_4044+69del
c.665-78_753+69del
c.707-78_795+69del
c.418-78_506+69del
c.671-78_759+69del
c.*3880-78_*3968+69del
c.391-78_479+69del
c.788-78_876+69del
c.410-78_498+69del
c.413-78_501+69del
c.5-27159_5-26924del (n.5-27159_5-26924del)
c.-43-16589_-43-16354del (n.-43-16589_-43-16354del)
c.-99+34161_-99+34396del (n.-99+34161_-99+34396del)
n.4233-78_4321+69del
n.4274-78_4362+69del
 ClinVar dbSNP
17g.43090942_43094828delCA2499224437BRCA1c.705_4185+4del
c.579_4059+4del
c.702_4182+4del
c.627_4107+4del
c.702_873+4del
c.564_735+4del
c.-184_3297+4del
c.582_4062+4del
c.564_4044+4del
c.582_753+4del
c.624_795+4del
c.670+1020_759+4del
c.*488_*3968+4del
c.705_876+4del
c.327_498+4del
c.330_501+4del
c.4+30356_5-26989del (n.4+30356_5-26989del)
c.-43-20305_-43-16419del (n.-43-20305_-43-16419del)
c.-99+30445_-99+34331del (n.-99+30445_-99+34331del)
n.841_4321+4del
n.882_4362+4del
 ClinVar
17g.43090946_43097291delCA2580061395BRCA1c.549_4185+1del
c.545-2428_4059+1del
c.546_4182+1del
c.471_4107+1del
c.546_873+1del
c.408_735+1del
c.-218-2428_3297+1del
c.548-2428_4062+1del
c.408_4044+1del
c.548-2428_753+1del
c.468_795+1del
c.549_759+1del
c.*332_*3968+1del
c.549_876+1del
c.293-2428_498+1del
c.296-2428_501+1del
c.4+27894_5-26992del (n.4+27894_5-26992del)
c.-43-22767_-43-16422del (n.-43-22767_-43-16422del)
c.-99+27983_-99+34328del (n.-99+27983_-99+34328del)
n.685_4321+1del
n.726_4362+1del
 ClinVar
17g.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.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
17g.43090993G>ACA10593451BRCA1c.4136C>T (p.Ser1379Phe)
c.4010C>T (p.Ser1337Phe)
c.4133C>T (p.Ser1378Phe)
c.4058C>T (p.Ser1353Phe)
c.824C>T (p.Ser275Phe)
c.686C>T (p.Ser229Phe)
c.3248C>T (p.Ser1083Phe)
c.4013C>T (p.Ser1338Phe)
c.3995C>T (p.Ser1332Phe)
c.704C>T (p.Ser235Phe)
c.746C>T (p.Ser249Phe)
c.457C>T
c.710C>T (p.Ser237Phe)
c.*3919C>T (n.*3919C>T)
c.430C>T
c.827C>T (p.Ser276Phe)
c.449C>T (p.Ser150Phe)
c.452C>T (p.Ser151Phe)
c.5-27042C>T (n.5-27042C>T)
c.-43-16472C>T (n.-43-16472C>T)
c.-99+34278C>T (n.-99+34278C>T)
n.4272C>T
n.4313C>T
 dbSNP
17g.43090993G>CCA10593452BRCA1c.4136C>G (p.Ser1379Cys)
c.4010C>G (p.Ser1337Cys)
c.4133C>G (p.Ser1378Cys)
c.4058C>G (p.Ser1353Cys)
c.824C>G (p.Ser275Cys)
c.686C>G (p.Ser229Cys)
c.3248C>G (p.Ser1083Cys)
c.4013C>G (p.Ser1338Cys)
c.3995C>G (p.Ser1332Cys)
c.704C>G (p.Ser235Cys)
c.746C>G (p.Ser249Cys)
c.457C>G
c.710C>G (p.Ser237Cys)
c.*3919C>G (n.*3919C>G)
c.430C>G
c.827C>G (p.Ser276Cys)
c.449C>G (p.Ser150Cys)
c.452C>G (p.Ser151Cys)
c.5-27042C>G (n.5-27042C>G)
c.-43-16472C>G (n.-43-16472C>G)
c.-99+34278C>G (n.-99+34278C>G)
n.4272C>G
n.4313C>G
 dbSNP
17g.43090993G>TCA10593453BRCA1c.4136C>A (p.Ser1379Tyr)
c.4010C>A (p.Ser1337Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4058C>A (p.Ser1353Tyr)
c.824C>A (p.Ser275Tyr)
c.686C>A (p.Ser229Tyr)
c.3248C>A (p.Ser1083Tyr)
c.4013C>A (p.Ser1338Tyr)
c.3995C>A (p.Ser1332Tyr)
c.704C>A (p.Ser235Tyr)
c.746C>A (p.Ser249Tyr)
c.457C>A
c.710C>A (p.Ser237Tyr)
c.*3919C>A (n.*3919C>A)
c.430C>A
c.827C>A (p.Ser276Tyr)
c.449C>A (p.Ser150Tyr)
c.452C>A (p.Ser151Tyr)
c.5-27042C>A (n.5-27042C>A)
c.-43-16472C>A (n.-43-16472C>A)
c.-99+34278C>A (n.-99+34278C>A)
n.4272C>A
n.4313C>A
17g.43090994A>CCA10593454BRCA1c.4135T>G (p.Ser1379Ala)
c.4009T>G (p.Ser1337Ala)
c.4132T>G (p.Ser1378Ala)
c.4057T>G (p.Ser1353Ala)
c.823T>G (p.Ser275Ala)
c.685T>G (p.Ser229Ala)
c.3247T>G (p.Ser1083Ala)
c.4012T>G (p.Ser1338Ala)
c.3994T>G (p.Ser1332Ala)
c.703T>G (p.Ser235Ala)
c.745T>G (p.Ser249Ala)
c.456T>G
c.709T>G (p.Ser237Ala)
c.*3918T>G (n.*3918T>G)
c.429T>G
c.826T>G (p.Ser276Ala)
c.448T>G (p.Ser150Ala)
c.451T>G (p.Ser151Ala)
c.5-27043T>G (n.5-27043T>G)
c.-43-16473T>G (n.-43-16473T>G)
c.-99+34277T>G (n.-99+34277T>G)
n.4271T>G
n.4312T>G
17g.43090994A>GCA10593455BRCA1c.4135T>C (p.Ser1379Pro)
c.4009T>C (p.Ser1337Pro)
c.4132T>C (p.Ser1378Pro)
c.4057T>C (p.Ser1353Pro)
c.823T>C (p.Ser275Pro)
c.685T>C (p.Ser229Pro)
c.3247T>C (p.Ser1083Pro)
c.4012T>C (p.Ser1338Pro)
c.3994T>C (p.Ser1332Pro)
c.703T>C (p.Ser235Pro)
c.745T>C (p.Ser249Pro)
c.456T>C
c.709T>C (p.Ser237Pro)
c.*3918T>C (n.*3918T>C)
c.429T>C
c.826T>C (p.Ser276Pro)
c.448T>C (p.Ser150Pro)
c.451T>C (p.Ser151Pro)
c.5-27043T>C (n.5-27043T>C)
c.-43-16473T>C (n.-43-16473T>C)
c.-99+34277T>C (n.-99+34277T>C)
n.4271T>C
n.4312T>C
17g.43090994A>TCA10593456BRCA1c.4135T>A (p.Ser1379Thr)
c.4009T>A (p.Ser1337Thr)
c.4132T>A (p.Ser1378Thr)
c.4057T>A (p.Ser1353Thr)
c.823T>A (p.Ser275Thr)
c.685T>A (p.Ser229Thr)
c.3247T>A (p.Ser1083Thr)
c.4012T>A (p.Ser1338Thr)
c.3994T>A (p.Ser1332Thr)
c.703T>A (p.Ser235Thr)
c.745T>A (p.Ser249Thr)
c.456T>A
c.709T>A (p.Ser237Thr)
c.*3918T>A (n.*3918T>A)
c.429T>A
c.826T>A (p.Ser276Thr)
c.448T>A (p.Ser150Thr)
c.451T>A (p.Ser151Thr)
c.5-27043T>A (n.5-27043T>A)
c.-43-16473T>A (n.-43-16473T>A)
c.-99+34277T>A (n.-99+34277T>A)
n.4271T>A
n.4312T>A
 dbSNP
17g.43090994_43091052delinsAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGCA2260781686BRCA1c.4097-20_4135delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3971-20_4009delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.4094-20_4132delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.4019-20_4057delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.785-20_823delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.647-20_685delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3209-20_3247delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3974-20_4012delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.3956-20_3994delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.665-20_703delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.707-20_745delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.418-20_456delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.671-20_709delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.*3880-20_*3918delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.391-20_429delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.788-20_826delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.410-20_448delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.413-20_451delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
c.5-27101_5-27043delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.5-27101_5-27043delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
c.-43-16531_-43-16473delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.-43-16531_-43-16473delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
c.-99+34219_-99+34277delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT (n.-99+34219_-99+34277delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT)
n.4233-20_4271delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
n.4274-20_4312delinsCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCT
17g.43090995G>ACA500123034BRCA1c.4134C>T (p.Val1378=)
c.4008C>T (p.Val1336=)
c.4131C>T (p.Val1377=)
c.4056C>T (p.Val1352=)
c.822C>T (p.Val274=)
c.684C>T (p.Val228=)
c.3246C>T (p.Val1082=)
c.4011C>T (p.Val1337=)
c.3993C>T (p.Val1331=)
c.702C>T (p.Val234=)
c.744C>T (p.Val248=)
c.455C>T
c.708C>T (p.Val236=)
c.*3917C>T (n.*3917C>T)
c.428C>T
c.825C>T (p.Val275=)
c.447C>T (p.Val149=)
c.450C>T (p.Val150=)
c.5-27044C>T (n.5-27044C>T)
c.-43-16474C>T (n.-43-16474C>T)
c.-99+34276C>T (n.-99+34276C>T)
n.4270C>T
n.4311C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43090995G>CCA500123038BRCA1c.4134C>G (p.Val1378=)
c.4008C>G (p.Val1336=)
c.4131C>G (p.Val1377=)
c.4056C>G (p.Val1352=)
c.822C>G (p.Val274=)
c.684C>G (p.Val228=)
c.3246C>G (p.Val1082=)
c.4011C>G (p.Val1337=)
c.3993C>G (p.Val1331=)
c.702C>G (p.Val234=)
c.744C>G (p.Val248=)
c.455C>G
c.708C>G (p.Val236=)
c.*3917C>G (n.*3917C>G)
c.428C>G
c.825C>G (p.Val275=)
c.447C>G (p.Val149=)
c.450C>G (p.Val150=)
c.5-27044C>G (n.5-27044C>G)
c.-43-16474C>G (n.-43-16474C>G)
c.-99+34276C>G (n.-99+34276C>G)
n.4270C>G
n.4311C>G
 dbSNP
17g.43090995G=CA2260781687BRCA1c.4134C= (p.Val1378=)
c.4008C= (p.Val1336=)
c.4131C= (p.Val1377=)
c.4056C= (p.Val1352=)
c.822C= (p.Val274=)
c.684C= (p.Val228=)
c.3246C= (p.Val1082=)
c.4011C= (p.Val1337=)
c.3993C= (p.Val1331=)
c.702C= (p.Val234=)
c.744C= (p.Val248=)
c.455C=
c.708C= (p.Val236=)
c.*3917C= (n.*3917C=)
c.428C=
c.825C= (p.Val275=)
c.447C= (p.Val149=)
c.450C= (p.Val150=)
c.5-27044C= (n.5-27044C=)
c.-43-16474C= (n.-43-16474C=)
c.-99+34276C= (n.-99+34276C=)
n.4270C=
n.4311C=
17g.43090995G>TCA500123035BRCA1c.4134C>A (p.Val1378=)
c.4008C>A (p.Val1336=)
c.4131C>A (p.Val1377=)
c.4056C>A (p.Val1352=)
c.822C>A (p.Val274=)
c.684C>A (p.Val228=)
c.3246C>A (p.Val1082=)
c.4011C>A (p.Val1337=)
c.3993C>A (p.Val1331=)
c.702C>A (p.Val234=)
c.744C>A (p.Val248=)
c.455C>A
c.708C>A (p.Val236=)
c.*3917C>A (n.*3917C>A)
c.428C>A
c.825C>A (p.Val275=)
c.447C>A (p.Val149=)
c.450C>A (p.Val150=)
c.5-27044C>A (n.5-27044C>A)
c.-43-16474C>A (n.-43-16474C>A)
c.-99+34276C>A (n.-99+34276C>A)
n.4270C>A
n.4311C>A
 dbSNP
17g.43090996_43091053delCA1139665602BRCA1c.4097-20_4134del
c.3971-20_4008del
c.4094-20_4131del
c.4019-20_4056del
c.785-20_822del
c.647-20_684del
c.3209-20_3246del
c.3974-20_4011del
c.3956-20_3993del
c.665-20_702del
c.707-20_744del
c.418-20_455del
c.671-20_708del
c.*3880-20_*3917del
c.391-20_428del
c.788-20_825del
c.410-20_447del
c.413-20_450del
c.5-27101_5-27044del (n.5-27101_5-27044del)
c.-43-16531_-43-16474del (n.-43-16531_-43-16474del)
c.-99+34219_-99+34276del (n.-99+34219_-99+34276del)
n.4233-20_4270del
n.4274-20_4311del
 ClinVar dbSNP
17g.43090996A=CA2260781688BRCA1c.4133T= (p.Val1378=)
c.4007T= (p.Val1336=)
c.4130T= (p.Val1377=)
c.4055T= (p.Val1352=)
c.821T= (p.Val274=)
c.683T= (p.Val228=)
c.3245T= (p.Val1082=)
c.4010T= (p.Val1337=)
c.3992T= (p.Val1331=)
c.701T= (p.Val234=)
c.743T= (p.Val248=)
c.454T=
c.707T= (p.Val236=)
c.*3916T= (n.*3916T=)
c.427T=
c.824T= (p.Val275=)
c.446T= (p.Val149=)
c.449T= (p.Val150=)
c.5-27045T= (n.5-27045T=)
c.-43-16475T= (n.-43-16475T=)
c.-99+34275T= (n.-99+34275T=)
n.4269T=
n.4310T=
17g.43090996A>CCA10593457BRCA1c.4133T>G (p.Val1378Gly)
c.4007T>G (p.Val1336Gly)
c.4130T>G (p.Val1377Gly)
c.4055T>G (p.Val1352Gly)
c.821T>G (p.Val274Gly)
c.683T>G (p.Val228Gly)
c.3245T>G (p.Val1082Gly)
c.4010T>G (p.Val1337Gly)
c.3992T>G (p.Val1331Gly)
c.701T>G (p.Val234Gly)
c.743T>G (p.Val248Gly)
c.454T>G
c.707T>G (p.Val236Gly)
c.*3916T>G (n.*3916T>G)
c.427T>G
c.824T>G (p.Val275Gly)
c.446T>G (p.Val149Gly)
c.449T>G (p.Val150Gly)
c.5-27045T>G (n.5-27045T>G)
c.-43-16475T>G (n.-43-16475T>G)
c.-99+34275T>G (n.-99+34275T>G)
n.4269T>G
n.4310T>G
 dbSNP
17g.43090996A>GCA10593458BRCA1c.4133T>C (p.Val1378Ala)
c.4007T>C (p.Val1336Ala)
c.4130T>C (p.Val1377Ala)
c.4055T>C (p.Val1352Ala)
c.821T>C (p.Val274Ala)
c.683T>C (p.Val228Ala)
c.3245T>C (p.Val1082Ala)
c.4010T>C (p.Val1337Ala)
c.3992T>C (p.Val1331Ala)
c.701T>C (p.Val234Ala)
c.743T>C (p.Val248Ala)
c.454T>C
c.707T>C (p.Val236Ala)
c.*3916T>C (n.*3916T>C)
c.427T>C
c.824T>C (p.Val275Ala)
c.446T>C (p.Val149Ala)
c.449T>C (p.Val150Ala)
c.5-27045T>C (n.5-27045T>C)
c.-43-16475T>C (n.-43-16475T>C)
c.-99+34275T>C (n.-99+34275T>C)
n.4269T>C
n.4310T>C
 ClinVar dbSNP
17g.43090996A>TCA10593459BRCA1c.4133T>A (p.Val1378Asp)
c.4007T>A (p.Val1336Asp)
c.4130T>A (p.Val1377Asp)
c.4055T>A (p.Val1352Asp)
c.821T>A (p.Val274Asp)
c.683T>A (p.Val228Asp)
c.3245T>A (p.Val1082Asp)
c.4010T>A (p.Val1337Asp)
c.3992T>A (p.Val1331Asp)
c.701T>A (p.Val234Asp)
c.743T>A (p.Val248Asp)
c.454T>A
c.707T>A (p.Val236Asp)
c.*3916T>A (n.*3916T>A)
c.427T>A
c.824T>A (p.Val275Asp)
c.446T>A (p.Val149Asp)
c.449T>A (p.Val150Asp)
c.5-27045T>A (n.5-27045T>A)
c.-43-16475T>A (n.-43-16475T>A)
c.-99+34275T>A (n.-99+34275T>A)
n.4269T>A
n.4310T>A
 dbSNP
17g.43090998_43091016delCA2499224439BRCA1c.4115_4133del (p.Cys1372SerfsTer15)
c.3989_4007del (p.Cys1330SerfsTer15)
c.4112_4130del (p.Cys1371SerfsTer15)
c.4037_4055del (p.Cys1346SerfsTer15)
c.803_821del (p.Cys268SerfsTer15)
c.665_683del (p.Cys222SerfsTer15)
c.3227_3245del (p.Cys1076SerfsTer15)
c.3992_4010del (p.Cys1331SerfsTer15)
c.3974_3992del (p.Cys1325SerfsTer15)
c.683_701del (p.Cys228SerfsTer15)
c.725_743del (p.Cys242SerfsTer15)
c.436_454del
c.689_707del (p.Cys230SerfsTer15)
c.*3898_*3916del (n.*3898_*3916del)
c.409_427del
c.806_824del (p.Cys269SerfsTer15)
c.428_446del (p.Cys143SerfsTer15)
c.431_449del (p.Cys144SerfsTer15)
c.5-27063_5-27045del (n.5-27063_5-27045del)
c.-43-16493_-43-16475del (n.-43-16493_-43-16475del)
c.-99+34257_-99+34275del (n.-99+34257_-99+34275del)
n.4251_4269del
n.4292_4310del
17g.43090997C>ACA10593460BRCA1c.4132G>T (p.Val1378Phe)
c.4006G>T (p.Val1336Phe)
c.4129G>T (p.Val1377Phe)
c.4054G>T (p.Val1352Phe)
c.820G>T (p.Val274Phe)
c.682G>T (p.Val228Phe)
c.3244G>T (p.Val1082Phe)
c.4009G>T (p.Val1337Phe)
c.3991G>T (p.Val1331Phe)
c.700G>T (p.Val234Phe)
c.742G>T (p.Val248Phe)
c.453G>T
c.706G>T (p.Val236Phe)
c.*3915G>T (n.*3915G>T)
c.426G>T
c.823G>T (p.Val275Phe)
c.445G>T (p.Val149Phe)
c.448G>T (p.Val150Phe)
c.5-27046G>T (n.5-27046G>T)
c.-43-16476G>T (n.-43-16476G>T)
c.-99+34274G>T (n.-99+34274G>T)
n.4268G>T
n.4309G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43090997C=CA2260781689BRCA1c.4132G= (p.Val1378=)
c.4006G= (p.Val1336=)
c.4129G= (p.Val1377=)
c.4054G= (p.Val1352=)
c.820G= (p.Val274=)
c.682G= (p.Val228=)
c.3244G= (p.Val1082=)
c.4009G= (p.Val1337=)
c.3991G= (p.Val1331=)
c.700G= (p.Val234=)
c.742G= (p.Val248=)
c.453G=
c.706G= (p.Val236=)
c.*3915G= (n.*3915G=)
c.426G=
c.823G= (p.Val275=)
c.445G= (p.Val149=)
c.448G= (p.Val150=)
c.5-27046G= (n.5-27046G=)
c.-43-16476G= (n.-43-16476G=)
c.-99+34274G= (n.-99+34274G=)
n.4268G=
n.4309G=
17g.43090997C>GCA10593461BRCA1c.4132G>C (p.Val1378Leu)
c.4006G>C (p.Val1336Leu)
c.4129G>C (p.Val1377Leu)
c.4054G>C (p.Val1352Leu)
c.820G>C (p.Val274Leu)
c.682G>C (p.Val228Leu)
c.3244G>C (p.Val1082Leu)
c.4009G>C (p.Val1337Leu)
c.3991G>C (p.Val1331Leu)
c.700G>C (p.Val234Leu)
c.742G>C (p.Val248Leu)
c.453G>C
c.706G>C (p.Val236Leu)
c.*3915G>C (n.*3915G>C)
c.426G>C
c.823G>C (p.Val275Leu)
c.445G>C (p.Val149Leu)
c.448G>C (p.Val150Leu)
c.5-27046G>C (n.5-27046G>C)
c.-43-16476G>C (n.-43-16476G>C)
c.-99+34274G>C (n.-99+34274G>C)
n.4268G>C
n.4309G>C
 dbSNP
17g.43090997C>TCA002653BRCA1c.4132G>A (p.Val1378Ile)
c.4006G>A (p.Val1336Ile)
c.4129G>A (p.Val1377Ile)
c.4054G>A (p.Val1352Ile)
c.820G>A (p.Val274Ile)
c.682G>A (p.Val228Ile)
c.3244G>A (p.Val1082Ile)
c.4009G>A (p.Val1337Ile)
c.3991G>A (p.Val1331Ile)
c.700G>A (p.Val234Ile)
c.742G>A (p.Val248Ile)
c.453G>A
c.706G>A (p.Val236Ile)
c.*3915G>A (n.*3915G>A)
c.426G>A
c.823G>A (p.Val275Ile)
c.445G>A (p.Val149Ile)
c.448G>A (p.Val150Ile)
c.5-27046G>A (n.5-27046G>A)
c.-43-16476G>A (n.-43-16476G>A)
c.-99+34274G>A (n.-99+34274G>A)
n.4268G>A
n.4309G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43090998G>ACA002652BRCA1c.4131C>T (p.Ser1377=)
c.4005C>T (p.Ser1335=)
c.4128C>T (p.Ser1376=)
c.4053C>T (p.Ser1351=)
c.819C>T (p.Ser273=)
c.681C>T (p.Ser227=)
c.3243C>T (p.Ser1081=)
c.4008C>T (p.Ser1336=)
c.3990C>T (p.Ser1330=)
c.699C>T (p.Ser233=)
c.741C>T (p.Ser247=)
c.452C>T
c.705C>T (p.Ser235=)
c.*3914C>T (n.*3914C>T)
c.425C>T
c.822C>T (p.Ser274=)
c.444C>T (p.Ser148=)
c.447C>T (p.Ser149=)
c.5-27047C>T (n.5-27047C>T)
c.-43-16477C>T (n.-43-16477C>T)
c.-99+34273C>T (n.-99+34273C>T)
n.4267C>T
n.4308C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090998G>CCA10593462BRCA1c.4131C>G (p.Ser1377Arg)
c.4005C>G (p.Ser1335Arg)
c.4128C>G (p.Ser1376Arg)
c.4053C>G (p.Ser1351Arg)
c.819C>G (p.Ser273Arg)
c.681C>G (p.Ser227Arg)
c.3243C>G (p.Ser1081Arg)
c.4008C>G (p.Ser1336Arg)
c.3990C>G (p.Ser1330Arg)
c.699C>G (p.Ser233Arg)
c.741C>G (p.Ser247Arg)
c.452C>G
c.705C>G (p.Ser235Arg)
c.*3914C>G (n.*3914C>G)
c.425C>G
c.822C>G (p.Ser274Arg)
c.444C>G (p.Ser148Arg)
c.447C>G (p.Ser149Arg)
c.5-27047C>G (n.5-27047C>G)
c.-43-16477C>G (n.-43-16477C>G)
c.-99+34273C>G (n.-99+34273C>G)
n.4267C>G
n.4308C>G
 dbSNP
17g.43090998G=CA2260781690BRCA1c.4131C= (p.Ser1377=)
c.4005C= (p.Ser1335=)
c.4128C= (p.Ser1376=)
c.4053C= (p.Ser1351=)
c.819C= (p.Ser273=)
c.681C= (p.Ser227=)
c.3243C= (p.Ser1081=)
c.4008C= (p.Ser1336=)
c.3990C= (p.Ser1330=)
c.699C= (p.Ser233=)
c.741C= (p.Ser247=)
c.452C=
c.705C= (p.Ser235=)
c.*3914C= (n.*3914C=)
c.425C=
c.822C= (p.Ser274=)
c.444C= (p.Ser148=)
c.447C= (p.Ser149=)
c.5-27047C= (n.5-27047C=)
c.-43-16477C= (n.-43-16477C=)
c.-99+34273C= (n.-99+34273C=)
n.4267C=
n.4308C=
17g.43090998G>TCA002651BRCA1c.4131C>A (p.Ser1377Arg)
c.4005C>A (p.Ser1335Arg)
c.4128C>A (p.Ser1376Arg)
c.4053C>A (p.Ser1351Arg)
c.819C>A (p.Ser273Arg)
c.681C>A (p.Ser227Arg)
c.3243C>A (p.Ser1081Arg)
c.4008C>A (p.Ser1336Arg)
c.3990C>A (p.Ser1330Arg)
c.699C>A (p.Ser233Arg)
c.741C>A (p.Ser247Arg)
c.452C>A
c.705C>A (p.Ser235Arg)
c.*3914C>A (n.*3914C>A)
c.425C>A
c.822C>A (p.Ser274Arg)
c.444C>A (p.Ser148Arg)
c.447C>A (p.Ser149Arg)
c.5-27047C>A (n.5-27047C>A)
c.-43-16477C>A (n.-43-16477C>A)
c.-99+34273C>A (n.-99+34273C>A)
n.4267C>A
n.4308C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43090999C>ACA10593463BRCA1c.4130G>T (p.Ser1377Ile)
c.4004G>T (p.Ser1335Ile)
c.4127G>T (p.Ser1376Ile)
c.4052G>T (p.Ser1351Ile)
c.818G>T (p.Ser273Ile)
c.680G>T (p.Ser227Ile)
c.3242G>T (p.Ser1081Ile)
c.4007G>T (p.Ser1336Ile)
c.3989G>T (p.Ser1330Ile)
c.698G>T (p.Ser233Ile)
c.740G>T (p.Ser247Ile)
c.451G>T
c.704G>T (p.Ser235Ile)
c.*3913G>T (n.*3913G>T)
c.424G>T
c.821G>T (p.Ser274Ile)
c.443G>T (p.Ser148Ile)
c.446G>T (p.Ser149Ile)
c.5-27048G>T (n.5-27048G>T)
c.-43-16478G>T (n.-43-16478G>T)
c.-99+34272G>T (n.-99+34272G>T)
n.4266G>T
n.4307G>T
17g.43090999C=CA2260781691BRCA1c.4130G= (p.Ser1377=)
c.4004G= (p.Ser1335=)
c.4127G= (p.Ser1376=)
c.4052G= (p.Ser1351=)
c.818G= (p.Ser273=)
c.680G= (p.Ser227=)
c.3242G= (p.Ser1081=)
c.4007G= (p.Ser1336=)
c.3989G= (p.Ser1330=)
c.698G= (p.Ser233=)
c.740G= (p.Ser247=)
c.451G=
c.704G= (p.Ser235=)
c.*3913G= (n.*3913G=)
c.424G=
c.821G= (p.Ser274=)
c.443G= (p.Ser148=)
c.446G= (p.Ser149=)
c.5-27048G= (n.5-27048G=)
c.-43-16478G= (n.-43-16478G=)
c.-99+34272G= (n.-99+34272G=)
n.4266G=
n.4307G=
17g.43090999C>GCA10593464BRCA1c.4130G>C (p.Ser1377Thr)
c.4004G>C (p.Ser1335Thr)
c.4127G>C (p.Ser1376Thr)
c.4052G>C (p.Ser1351Thr)
c.818G>C (p.Ser273Thr)
c.680G>C (p.Ser227Thr)
c.3242G>C (p.Ser1081Thr)
c.4007G>C (p.Ser1336Thr)
c.3989G>C (p.Ser1330Thr)
c.698G>C (p.Ser233Thr)
c.740G>C (p.Ser247Thr)
c.451G>C
c.704G>C (p.Ser235Thr)
c.*3913G>C (n.*3913G>C)
c.424G>C
c.821G>C (p.Ser274Thr)
c.443G>C (p.Ser148Thr)
c.446G>C (p.Ser149Thr)
c.5-27048G>C (n.5-27048G>C)
c.-43-16478G>C (n.-43-16478G>C)
c.-99+34272G>C (n.-99+34272G>C)
n.4266G>C
n.4307G>C
 dbSNP
17g.43090999C>TCA10593465BRCA1c.4130G>A (p.Ser1377Asn)
c.4004G>A (p.Ser1335Asn)
c.4127G>A (p.Ser1376Asn)
c.4052G>A (p.Ser1351Asn)
c.818G>A (p.Ser273Asn)
c.680G>A (p.Ser227Asn)
c.3242G>A (p.Ser1081Asn)
c.4007G>A (p.Ser1336Asn)
c.3989G>A (p.Ser1330Asn)
c.698G>A (p.Ser233Asn)
c.740G>A (p.Ser247Asn)
c.451G>A
c.704G>A (p.Ser235Asn)
c.*3913G>A (n.*3913G>A)
c.424G>A
c.821G>A (p.Ser274Asn)
c.443G>A (p.Ser148Asn)
c.446G>A (p.Ser149Asn)
c.5-27048G>A (n.5-27048G>A)
c.-43-16478G>A (n.-43-16478G>A)
c.-99+34272G>A (n.-99+34272G>A)
n.4266G>A
n.4307G>A
 ClinVar dbSNP
17g.43090999_43091000delinsCTCA2260781693BRCA1c.4129_4130delinsAG (p.Ser1377=)
c.4003_4004delinsAG (p.Ser1335=)
c.4126_4127delinsAG (p.Ser1376=)
c.4051_4052delinsAG (p.Ser1351=)
c.817_818delinsAG (p.Ser273=)
c.679_680delinsAG (p.Ser227=)
c.3241_3242delinsAG (p.Ser1081=)
c.4006_4007delinsAG (p.Ser1336=)
c.3988_3989delinsAG (p.Ser1330=)
c.697_698delinsAG (p.Ser233=)
c.739_740delinsAG (p.Ser247=)
c.450_451delinsAG
c.703_704delinsAG (p.Ser235=)
c.*3912_*3913delinsAG (n.*3912_*3913delinsAG)
c.423_424delinsAG
c.820_821delinsAG (p.Ser274=)
c.442_443delinsAG (p.Ser148=)
c.445_446delinsAG (p.Ser149=)
c.5-27049_5-27048delinsAG (n.5-27049_5-27048delinsAG)
c.-43-16479_-43-16478delinsAG (n.-43-16479_-43-16478delinsAG)
c.-99+34271_-99+34272delinsAG (n.-99+34271_-99+34272delinsAG)
n.4265_4266delinsAG
n.4306_4307delinsAG
17g.43090999_43091001delinsCTTCA2260781694BRCA1c.4128_4130delinsAAG (p.Thr1376=)
c.4002_4004delinsAAG (p.Thr1334=)
c.4125_4127delinsAAG (p.Thr1375=)
c.4050_4052delinsAAG (p.Thr1350=)
c.816_818delinsAAG (p.Thr272=)
c.678_680delinsAAG (p.Thr226=)
c.3240_3242delinsAAG (p.Thr1080=)
c.4005_4007delinsAAG (p.Thr1335=)
c.3987_3989delinsAAG (p.Thr1329=)
c.696_698delinsAAG (p.Thr232=)
c.738_740delinsAAG (p.Thr246=)
c.449_451delinsAAG
c.702_704delinsAAG (p.Thr234=)
c.*3911_*3913delinsAAG (n.*3911_*3913delinsAAG)
c.422_424delinsAAG
c.819_821delinsAAG (p.Thr273=)
c.441_443delinsAAG (p.Thr147=)
c.444_446delinsAAG (p.Thr148=)
c.5-27050_5-27048delinsAAG (n.5-27050_5-27048delinsAAG)
c.-43-16480_-43-16478delinsAAG (n.-43-16480_-43-16478delinsAAG)
c.-99+34270_-99+34272delinsAAG (n.-99+34270_-99+34272delinsAAG)
n.4264_4266delinsAAG
n.4305_4307delinsAAG
17g.43090999_43091003delinsCTTGTCA2260781692BRCA1c.4126_4130delinsACAAG (p.Thr1376=)
c.4000_4004delinsACAAG (p.Thr1334=)
c.4123_4127delinsACAAG (p.Thr1375=)
c.4048_4052delinsACAAG (p.Thr1350=)
c.814_818delinsACAAG (p.Thr272=)
c.676_680delinsACAAG (p.Thr226=)
c.3238_3242delinsACAAG (p.Thr1080=)
c.4003_4007delinsACAAG (p.Thr1335=)
c.3985_3989delinsACAAG (p.Thr1329=)
c.694_698delinsACAAG (p.Thr232=)
c.736_740delinsACAAG (p.Thr246=)
c.447_451delinsACAAG
c.700_704delinsACAAG (p.Thr234=)
c.*3909_*3913delinsACAAG (n.*3909_*3913delinsACAAG)
c.420_424delinsACAAG
c.817_821delinsACAAG (p.Thr273=)
c.439_443delinsACAAG (p.Thr147=)
c.442_446delinsACAAG (p.Thr148=)
c.5-27052_5-27048delinsACAAG (n.5-27052_5-27048delinsACAAG)
c.-43-16482_-43-16478delinsACAAG (n.-43-16482_-43-16478delinsACAAG)
c.-99+34268_-99+34272delinsACAAG (n.-99+34268_-99+34272delinsACAAG)
n.4262_4266delinsACAAG
n.4303_4307delinsACAAG
17g.43091000T>ACA10593466BRCA1c.4129A>T (p.Ser1377Cys)
c.4003A>T (p.Ser1335Cys)
c.4126A>T (p.Ser1376Cys)
c.4051A>T (p.Ser1351Cys)
c.817A>T (p.Ser273Cys)
c.679A>T (p.Ser227Cys)
c.3241A>T (p.Ser1081Cys)
c.4006A>T (p.Ser1336Cys)
c.3988A>T (p.Ser1330Cys)
c.697A>T (p.Ser233Cys)
c.739A>T (p.Ser247Cys)
c.450A>T
c.703A>T (p.Ser235Cys)
c.*3912A>T (n.*3912A>T)
c.423A>T
c.820A>T (p.Ser274Cys)
c.442A>T (p.Ser148Cys)
c.445A>T (p.Ser149Cys)
c.5-27049A>T (n.5-27049A>T)
c.-43-16479A>T (n.-43-16479A>T)
c.-99+34271A>T (n.-99+34271A>T)
n.4265A>T
n.4306A>T
 dbSNP
17g.43091000T>CCA002649BRCA1c.4129A>G (p.Ser1377Gly)
c.4003A>G (p.Ser1335Gly)
c.4126A>G (p.Ser1376Gly)
c.4051A>G (p.Ser1351Gly)
c.817A>G (p.Ser273Gly)
c.679A>G (p.Ser227Gly)
c.3241A>G (p.Ser1081Gly)
c.4006A>G (p.Ser1336Gly)
c.3988A>G (p.Ser1330Gly)
c.697A>G (p.Ser233Gly)
c.739A>G (p.Ser247Gly)
c.450A>G
c.703A>G (p.Ser235Gly)
c.*3912A>G (n.*3912A>G)
c.423A>G
c.820A>G (p.Ser274Gly)
c.442A>G (p.Ser148Gly)
c.445A>G (p.Ser149Gly)
c.5-27049A>G (n.5-27049A>G)
c.-43-16479A>G (n.-43-16479A>G)
c.-99+34271A>G (n.-99+34271A>G)
n.4265A>G
n.4306A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091000T>GCA10593467BRCA1c.4129A>C (p.Ser1377Arg)
c.4003A>C (p.Ser1335Arg)
c.4126A>C (p.Ser1376Arg)
c.4051A>C (p.Ser1351Arg)
c.817A>C (p.Ser273Arg)
c.679A>C (p.Ser227Arg)
c.3241A>C (p.Ser1081Arg)
c.4006A>C (p.Ser1336Arg)
c.3988A>C (p.Ser1330Arg)
c.697A>C (p.Ser233Arg)
c.739A>C (p.Ser247Arg)
c.450A>C
c.703A>C (p.Ser235Arg)
c.*3912A>C (n.*3912A>C)
c.423A>C
c.820A>C (p.Ser274Arg)
c.442A>C (p.Ser148Arg)
c.445A>C (p.Ser149Arg)
c.5-27049A>C (n.5-27049A>C)
c.-43-16479A>C (n.-43-16479A>C)
c.-99+34271A>C (n.-99+34271A>C)
n.4265A>C
n.4306A>C
 dbSNP

Number of alleles fetched