Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43070208_43078359dupCA16043350BRCA1c.4358-1732_4983+736dup
c.4358-1729_4986+736dup
c.4232-1729_4860+736dup
c.4352-1729_4980+736dup
c.4280-1729_4908+736dup
c.1046-1729_1674+736dup
c.908-1729_1536+736dup
c.3470-1729_4098+736dup
c.4235-1729_4863+736dup
c.4423+991_5052+736dup
c.4217-1729_4845+736dup
c.923-1732_1548+736dup
c.4423+991_5049+736dup
c.744+991_1373+736dup
c.932-1729_1560+736dup
c.*4141-1729_*4769+736dup
c.1049-1732_1674+736dup
c.671-1729_1299+736dup
c.5-14392_5-6241dup (n.5-14392_5-6241dup)
c.-43-3822_459+736dup
c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup)
n.4494-1729_5122+736dup
n.4535-1729_5163+736dup
17g.43070192_43078360dupCA2580612611BRCA1c.4358-1749_4983+736dup
c.4358-1746_4986+736dup
c.4232-1746_4860+736dup
c.4352-1746_4980+736dup
c.4280-1746_4908+736dup
c.1046-1746_1674+736dup
c.908-1746_1536+736dup
c.3470-1746_4098+736dup
c.4235-1746_4863+736dup
c.4423+974_5052+736dup
c.4217-1746_4845+736dup
c.923-1749_1548+736dup
c.4423+974_5049+736dup
c.744+974_1373+736dup
c.932-1746_1560+736dup
c.*4141-1746_*4769+736dup
c.1049-1749_1674+736dup
c.671-1746_1299+736dup
c.5-14409_5-6241dup (n.5-14409_5-6241dup)
c.-43-3839_459+736dup
c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup)
n.4494-1746_5122+736dup
n.4535-1746_5163+736dup
17g.43074328_43074519delinsTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGCA2260774412BRCA1c.4484_4672+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4487_4675+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4361_4549+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4481_4669+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4409_4597+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.1175_1363+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.1037_1225+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.3599_3787+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4364_4552+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4553_4741+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4346_4534+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.1049_1237+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.1094_1282+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.4550_4738+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.874_1062+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.1061_1249+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.*4270_*4458+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.800_988+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA)
c.-41_148+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
c.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA)
n.4623_4811+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
n.4664_4852+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
17g.43074329_43074522delCA2499224400BRCA1c.4482-1_4672+2del
c.4485-1_4675+2del
c.4359-1_4549+2del
c.4479-1_4669+2del
c.4407-1_4597+2del
c.1173-1_1363+2del
c.1035-1_1225+2del
c.3597-1_3787+2del
c.4362-1_4552+2del
c.4551-1_4741+2del
c.4344-1_4534+2del
c.1047-1_1237+2del
c.1092-1_1282+2del
c.4548-1_4738+2del
c.872-1_1062+2del
c.1059-1_1249+2del
c.*4268-1_*4458+2del
c.798-1_988+2del
c.5-10571_5-10378del (n.5-10571_5-10378del)
c.-43-1_148+2del
c.-98-24332_-98-24139del (n.-98-24332_-98-24139del)
n.4621-1_4811+2del
n.4662-1_4852+2del
 ClinVar dbSNP
17g.43074336_43074526delCA645372633BRCA1c.4484_4672+2del
c.4487_4675+2del
c.4361_4549+2del
c.4481_4669+2del
c.4409_4597+2del
c.1175_1363+2del
c.1037_1225+2del
c.3599_3787+2del
c.4364_4552+2del
c.4553_4741+2del
c.4346_4534+2del
c.1049_1237+2del
c.1094_1282+2del
c.4550_4738+2del
c.874_1062+2del
c.1061_1249+2del
c.*4270_*4458+2del
c.800_988+2del
c.5-10568_5-10378del (n.5-10568_5-10378del)
c.-41_148+2del
c.-98-24329_-98-24139del (n.-98-24329_-98-24139del)
n.4623_4811+2del
n.4664_4852+2del
 ClinVar dbSNP
17g.43074333_43082577delCA2581463402BRCA1c.4186_4672del
c.4186_4675del
c.4060_4549del
c.4183-3_4669del
c.4108_4597del
c.874_1363del
c.736_1225del
c.3298_3787del
c.4063_4552del
c.4186_4741del
c.4045_4534del
c.754-3_1237del
c.796_1282del
c.4186_4738del
c.507_1062del
c.760_1249del
c.*3969_*4458del
c.877_1363del
c.499_988del
c.5-18624_5-10380del (n.5-18624_5-10380del)
c.-43-8054_148del
c.-98-32385_-98-24141del (n.-98-32385_-98-24141del)
n.4322_4811del
n.4363_4852del
17g.43074477_43074478delinsATCA2260774543BRCA1c.4525_4526delinsAT (p.Met1509=)
c.4528_4529delinsAT (p.Met1510=)
c.4402_4403delinsAT (p.Met1468=)
c.4522_4523delinsAT (p.Met1508=)
c.4450_4451delinsAT (p.Met1484=)
c.1216_1217delinsAT (p.Met406=)
c.1078_1079delinsAT (p.Met360=)
c.3640_3641delinsAT (p.Met1214=)
c.4405_4406delinsAT (p.Met1469=)
c.4594_4595delinsAT (p.Met1532=)
c.4387_4388delinsAT (p.Met1463=)
c.1090_1091delinsAT (p.Met364=)
c.1135_1136delinsAT (p.Met379=)
c.4591_4592delinsAT (p.Met1531=)
c.915_916delinsAT
c.1102_1103delinsAT (p.Met368=)
c.*4311_*4312delinsAT (n.*4311_*4312delinsAT)
c.841_842delinsAT (p.Met281=)
c.5-10527_5-10526delinsAT (n.5-10527_5-10526delinsAT)
c.1_2delinsAT (p.Met1=)
c.-98-24288_-98-24287delinsAT (n.-98-24288_-98-24287delinsAT)
n.4664_4665delinsAT
n.4705_4706delinsAT
17g.43074478delCA002894BRCA1c.4525del (p.Met1509CysfsTer?)
c.4528del (p.Met1510CysfsTer?)
c.4402del (p.Met1468CysfsTer?)
c.4522del (p.Met1508CysfsTer?)
c.4450del (p.Met1484CysfsTer?)
c.1216del (p.Met406CysfsTer?)
c.1078del (p.Met360CysfsTer?)
c.3640del (p.Met1214CysfsTer?)
c.4405del (p.Met1469CysfsTer?)
c.4594del (p.Met1532CysfsTer?)
c.4387del (p.Met1463CysfsTer?)
c.1090del (p.Met364CysfsTer?)
c.1135del (p.Met379CysfsTer?)
c.4591del (p.Met1531CysfsTer?)
c.915del
c.1102del (p.Met368CysfsTer?)
c.*4311del (n.*4311del)
c.841del (p.Met281CysfsTer?)
c.5-10527del (n.5-10527del)
c.1del (p.Met1CysfsTer?)
c.-98-24288del (n.-98-24288del)
n.4664del
n.4705del
 ClinVar dbSNP
17g.43074478T>ACA10592465BRCA1c.4525A>T (p.Met1509Leu)
c.4528A>T (p.Met1510Leu)
c.4402A>T (p.Met1468Leu)
c.4522A>T (p.Met1508Leu)
c.4450A>T (p.Met1484Leu)
c.1216A>T (p.Met406Leu)
c.1078A>T (p.Met360Leu)
c.3640A>T (p.Met1214Leu)
c.4405A>T (p.Met1469Leu)
c.4594A>T (p.Met1532Leu)
c.4387A>T (p.Met1463Leu)
c.1090A>T (p.Met364Leu)
c.1135A>T (p.Met379Leu)
c.4591A>T (p.Met1531Leu)
c.915A>T
c.1102A>T (p.Met368Leu)
c.*4311A>T (n.*4311A>T)
c.841A>T (p.Met281Leu)
c.5-10527A>T (n.5-10527A>T)
c.1A>T (p.Met1Leu)
c.-98-24288A>T (n.-98-24288A>T)
n.4664A>T
n.4705A>T
 dbSNP gnomAD v3 gnomAD v4
17g.43074478T>CCA10592466BRCA1c.4525A>G (p.Met1509Val)
c.4528A>G (p.Met1510Val)
c.4402A>G (p.Met1468Val)
c.4522A>G (p.Met1508Val)
c.4450A>G (p.Met1484Val)
c.1216A>G (p.Met406Val)
c.1078A>G (p.Met360Val)
c.3640A>G (p.Met1214Val)
c.4405A>G (p.Met1469Val)
c.4594A>G (p.Met1532Val)
c.4387A>G (p.Met1463Val)
c.1090A>G (p.Met364Val)
c.1135A>G (p.Met379Val)
c.4591A>G (p.Met1531Val)
c.915A>G
c.1102A>G (p.Met368Val)
c.*4311A>G (n.*4311A>G)
c.841A>G (p.Met281Val)
c.5-10527A>G (n.5-10527A>G)
c.1A>G (p.Met1Val)
c.-98-24288A>G (n.-98-24288A>G)
n.4664A>G
n.4705A>G
 ClinVar dbSNP gnomAD v4
17g.43074478T>GCA10592467BRCA1c.4525A>C (p.Met1509Leu)
c.4528A>C (p.Met1510Leu)
c.4402A>C (p.Met1468Leu)
c.4522A>C (p.Met1508Leu)
c.4450A>C (p.Met1484Leu)
c.1216A>C (p.Met406Leu)
c.1078A>C (p.Met360Leu)
c.3640A>C (p.Met1214Leu)
c.4405A>C (p.Met1469Leu)
c.4594A>C (p.Met1532Leu)
c.4387A>C (p.Met1463Leu)
c.1090A>C (p.Met364Leu)
c.1135A>C (p.Met379Leu)
c.4591A>C (p.Met1531Leu)
c.915A>C
c.1102A>C (p.Met368Leu)
c.*4311A>C (n.*4311A>C)
c.841A>C (p.Met281Leu)
c.5-10527A>C (n.5-10527A>C)
c.1A>C (p.Met1Leu)
c.-98-24288A>C (n.-98-24288A>C)
n.4664A>C
n.4705A>C
 ClinVar dbSNP
17g.43074478T=CA2260774545BRCA1c.4525A= (p.Met1509=)
c.4528A= (p.Met1510=)
c.4402A= (p.Met1468=)
c.4522A= (p.Met1508=)
c.4450A= (p.Met1484=)
c.1216A= (p.Met406=)
c.1078A= (p.Met360=)
c.3640A= (p.Met1214=)
c.4405A= (p.Met1469=)
c.4594A= (p.Met1532=)
c.4387A= (p.Met1463=)
c.1090A= (p.Met364=)
c.1135A= (p.Met379=)
c.4591A= (p.Met1531=)
c.915A=
c.1102A= (p.Met368=)
c.*4311A= (n.*4311A=)
c.841A= (p.Met281=)
c.5-10527A= (n.5-10527A=)
c.1A= (p.Met1=)
c.-98-24288A= (n.-98-24288A=)
n.4664A=
n.4705A=
17g.43074479G>ACA500146654BRCA1c.4524C>T (p.Tyr1508=)
c.4527C>T (p.Tyr1509=)
c.4401C>T (p.Tyr1467=)
c.4521C>T (p.Tyr1507=)
c.4449C>T (p.Tyr1483=)
c.1215C>T (p.Tyr405=)
c.1077C>T (p.Tyr359=)
c.3639C>T (p.Tyr1213=)
c.4404C>T (p.Tyr1468=)
c.4593C>T (p.Tyr1531=)
c.4386C>T (p.Tyr1462=)
c.1089C>T (p.Tyr363=)
c.1134C>T (p.Tyr378=)
c.4590C>T (p.Tyr1530=)
c.914C>T
c.1101C>T (p.Tyr367=)
c.*4310C>T (n.*4310C>T)
c.840C>T (p.Tyr280=)
c.5-10528C>T (n.5-10528C>T)
c.-1C>T (n.-1C>T)
c.-98-24289C>T (n.-98-24289C>T)
n.4663C>T
n.4704C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43074479G>CCA10592468BRCA1c.4524C>G (p.Tyr1508Ter)
c.4527C>G (p.Tyr1509Ter)
c.4401C>G (p.Tyr1467Ter)
c.4521C>G (p.Tyr1507Ter)
c.4449C>G (p.Tyr1483Ter)
c.1215C>G (p.Tyr405Ter)
c.1077C>G (p.Tyr359Ter)
c.3639C>G (p.Tyr1213Ter)
c.4404C>G (p.Tyr1468Ter)
c.4593C>G (p.Tyr1531Ter)
c.4386C>G (p.Tyr1462Ter)
c.1089C>G (p.Tyr363Ter)
c.1134C>G (p.Tyr378Ter)
c.4590C>G (p.Tyr1530Ter)
c.914C>G
c.1101C>G (p.Tyr367Ter)
c.*4310C>G (n.*4310C>G)
c.840C>G (p.Tyr280Ter)
c.5-10528C>G (n.5-10528C>G)
c.-1C>G (n.-1C>G)
c.-98-24289C>G (n.-98-24289C>G)
n.4663C>G
n.4704C>G
 ClinVar dbSNP
17g.43074479G=CA2260774547BRCA1c.4524C= (p.Tyr1508=)
c.4527C= (p.Tyr1509=)
c.4401C= (p.Tyr1467=)
c.4521C= (p.Tyr1507=)
c.4449C= (p.Tyr1483=)
c.1215C= (p.Tyr405=)
c.1077C= (p.Tyr359=)
c.3639C= (p.Tyr1213=)
c.4404C= (p.Tyr1468=)
c.4593C= (p.Tyr1531=)
c.4386C= (p.Tyr1462=)
c.1089C= (p.Tyr363=)
c.1134C= (p.Tyr378=)
c.4590C= (p.Tyr1530=)
c.914C=
c.1101C= (p.Tyr367=)
c.*4310C= (n.*4310C=)
c.840C= (p.Tyr280=)
c.5-10528C= (n.5-10528C=)
c.-1C= (n.-1C=)
c.-98-24289C= (n.-98-24289C=)
n.4663C=
n.4704C=
17g.43074479G>TCA10589660BRCA1c.4524C>A (p.Tyr1508Ter)
c.4527C>A (p.Tyr1509Ter)
c.4401C>A (p.Tyr1467Ter)
c.4521C>A (p.Tyr1507Ter)
c.4449C>A (p.Tyr1483Ter)
c.1215C>A (p.Tyr405Ter)
c.1077C>A (p.Tyr359Ter)
c.3639C>A (p.Tyr1213Ter)
c.4404C>A (p.Tyr1468Ter)
c.4593C>A (p.Tyr1531Ter)
c.4386C>A (p.Tyr1462Ter)
c.1089C>A (p.Tyr363Ter)
c.1134C>A (p.Tyr378Ter)
c.4590C>A (p.Tyr1530Ter)
c.914C>A
c.1101C>A (p.Tyr367Ter)
c.*4310C>A (n.*4310C>A)
c.840C>A (p.Tyr280Ter)
c.5-10528C>A (n.5-10528C>A)
c.-1C>A (n.-1C>A)
c.-98-24289C>A (n.-98-24289C>A)
n.4663C>A
n.4704C>A
 ClinVar dbSNP
17g.43074479_43074483delinsGTACCCA2260774546BRCA1c.4520_4524delinsGGTAC (p.Trp1507=)
c.4523_4527delinsGGTAC (p.Trp1508=)
c.4397_4401delinsGGTAC (p.Trp1466=)
c.4517_4521delinsGGTAC (p.Trp1506=)
c.4445_4449delinsGGTAC (p.Trp1482=)
c.1211_1215delinsGGTAC (p.Trp404=)
c.1073_1077delinsGGTAC (p.Trp358=)
c.3635_3639delinsGGTAC (p.Trp1212=)
c.4400_4404delinsGGTAC (p.Trp1467=)
c.4589_4593delinsGGTAC (p.Trp1530=)
c.4382_4386delinsGGTAC (p.Trp1461=)
c.1085_1089delinsGGTAC (p.Trp362=)
c.1130_1134delinsGGTAC (p.Trp377=)
c.4586_4590delinsGGTAC (p.Trp1529=)
c.910_914delinsGGTAC
c.1097_1101delinsGGTAC (p.Trp366=)
c.*4306_*4310delinsGGTAC (n.*4306_*4310delinsGGTAC)
c.836_840delinsGGTAC (p.Trp279=)
c.5-10532_5-10528delinsGGTAC (n.5-10532_5-10528delinsGGTAC)
c.-5_-1delinsGGTAC (n.-5_-1delinsGGTAC)
c.-98-24293_-98-24289delinsGGTAC (n.-98-24293_-98-24289delinsGGTAC)
n.4659_4663delinsGGTAC
n.4700_4704delinsGGTAC
17g.43074480delCA2580094403BRCA1c.4523del (p.Tyr1508SerfsTer?)
c.4526del (p.Tyr1509SerfsTer?)
c.4400del (p.Tyr1467SerfsTer?)
c.4520del (p.Tyr1507SerfsTer?)
c.4448del (p.Tyr1483SerfsTer?)
c.1214del (p.Tyr405SerfsTer?)
c.1076del (p.Tyr359SerfsTer?)
c.3638del (p.Tyr1213SerfsTer?)
c.4403del (p.Tyr1468SerfsTer?)
c.4592del (p.Tyr1531SerfsTer?)
c.4385del (p.Tyr1462SerfsTer?)
c.1088del (p.Tyr363SerfsTer?)
c.1133del (p.Tyr378SerfsTer?)
c.4589del (p.Tyr1530SerfsTer?)
c.913del
c.1100del (p.Tyr367SerfsTer?)
c.*4309del (n.*4309del)
c.839del (p.Tyr280SerfsTer?)
c.5-10529del (n.5-10529del)
c.-2del (n.-2del)
c.-98-24290del (n.-98-24290del)
n.4662del
n.4703del
 ClinVar dbSNP
17g.43074480T>ACA10592469BRCA1c.4523A>T (p.Tyr1508Phe)
c.4526A>T (p.Tyr1509Phe)
c.4400A>T (p.Tyr1467Phe)
c.4520A>T (p.Tyr1507Phe)
c.4448A>T (p.Tyr1483Phe)
c.1214A>T (p.Tyr405Phe)
c.1076A>T (p.Tyr359Phe)
c.3638A>T (p.Tyr1213Phe)
c.4403A>T (p.Tyr1468Phe)
c.4592A>T (p.Tyr1531Phe)
c.4385A>T (p.Tyr1462Phe)
c.1088A>T (p.Tyr363Phe)
c.1133A>T (p.Tyr378Phe)
c.4589A>T (p.Tyr1530Phe)
c.913A>T
c.1100A>T (p.Tyr367Phe)
c.*4309A>T (n.*4309A>T)
c.839A>T (p.Tyr280Phe)
c.5-10529A>T (n.5-10529A>T)
c.-2A>T (n.-2A>T)
c.-98-24290A>T (n.-98-24290A>T)
n.4662A>T
n.4703A>T
 dbSNP
17g.43074480T>CCA10592470BRCA1c.4523A>G (p.Tyr1508Cys)
c.4526A>G (p.Tyr1509Cys)
c.4400A>G (p.Tyr1467Cys)
c.4520A>G (p.Tyr1507Cys)
c.4448A>G (p.Tyr1483Cys)
c.1214A>G (p.Tyr405Cys)
c.1076A>G (p.Tyr359Cys)
c.3638A>G (p.Tyr1213Cys)
c.4403A>G (p.Tyr1468Cys)
c.4592A>G (p.Tyr1531Cys)
c.4385A>G (p.Tyr1462Cys)
c.1088A>G (p.Tyr363Cys)
c.1133A>G (p.Tyr378Cys)
c.4589A>G (p.Tyr1530Cys)
c.913A>G
c.1100A>G (p.Tyr367Cys)
c.*4309A>G (n.*4309A>G)
c.839A>G (p.Tyr280Cys)
c.5-10529A>G (n.5-10529A>G)
c.-2A>G (n.-2A>G)
c.-98-24290A>G (n.-98-24290A>G)
n.4662A>G
n.4703A>G
 ClinVar dbSNP
17g.43074480T>GCA10592471BRCA1c.4523A>C (p.Tyr1508Ser)
c.4526A>C (p.Tyr1509Ser)
c.4400A>C (p.Tyr1467Ser)
c.4520A>C (p.Tyr1507Ser)
c.4448A>C (p.Tyr1483Ser)
c.1214A>C (p.Tyr405Ser)
c.1076A>C (p.Tyr359Ser)
c.3638A>C (p.Tyr1213Ser)
c.4403A>C (p.Tyr1468Ser)
c.4592A>C (p.Tyr1531Ser)
c.4385A>C (p.Tyr1462Ser)
c.1088A>C (p.Tyr363Ser)
c.1133A>C (p.Tyr378Ser)
c.4589A>C (p.Tyr1530Ser)
c.913A>C
c.1100A>C (p.Tyr367Ser)
c.*4309A>C (n.*4309A>C)
c.839A>C (p.Tyr280Ser)
c.5-10529A>C (n.5-10529A>C)
c.-2A>C (n.-2A>C)
c.-98-24290A>C (n.-98-24290A>C)
n.4662A>C
n.4703A>C
 dbSNP
17g.43074480T=CA2260774548BRCA1c.4523A= (p.Tyr1508=)
c.4526A= (p.Tyr1509=)
c.4400A= (p.Tyr1467=)
c.4520A= (p.Tyr1507=)
c.4448A= (p.Tyr1483=)
c.1214A= (p.Tyr405=)
c.1076A= (p.Tyr359=)
c.3638A= (p.Tyr1213=)
c.4403A= (p.Tyr1468=)
c.4592A= (p.Tyr1531=)
c.4385A= (p.Tyr1462=)
c.1088A= (p.Tyr363=)
c.1133A= (p.Tyr378=)
c.4589A= (p.Tyr1530=)
c.913A=
c.1100A= (p.Tyr367=)
c.*4309A= (n.*4309A=)
c.839A= (p.Tyr280=)
c.5-10529A= (n.5-10529A=)
c.-2A= (n.-2A=)
c.-98-24290A= (n.-98-24290A=)
n.4662A=
n.4703A=
17g.43074480_43074483delinsCTCATCTAATGATGGGCACA16620423BRCA1c.4520_4523delinsTGCCCATCATTAGATGAG (p.Trp1507LeufsTer6)
c.4523_4526delinsTGCCCATCATTAGATGAG (p.Trp1508LeufsTer6)
c.4397_4400delinsTGCCCATCATTAGATGAG (p.Trp1466LeufsTer6)
c.4517_4520delinsTGCCCATCATTAGATGAG (p.Trp1506LeufsTer6)
c.4445_4448delinsTGCCCATCATTAGATGAG (p.Trp1482LeufsTer6)
c.1211_1214delinsTGCCCATCATTAGATGAG (p.Trp404LeufsTer6)
c.1073_1076delinsTGCCCATCATTAGATGAG (p.Trp358LeufsTer6)
c.3635_3638delinsTGCCCATCATTAGATGAG (p.Trp1212LeufsTer6)
c.4400_4403delinsTGCCCATCATTAGATGAG (p.Trp1467LeufsTer6)
c.4589_4592delinsTGCCCATCATTAGATGAG (p.Trp1530LeufsTer6)
c.4382_4385delinsTGCCCATCATTAGATGAG (p.Trp1461LeufsTer6)
c.1085_1088delinsTGCCCATCATTAGATGAG (p.Trp362LeufsTer6)
c.1130_1133delinsTGCCCATCATTAGATGAG (p.Trp377LeufsTer6)
c.4586_4589delinsTGCCCATCATTAGATGAG (p.Trp1529LeufsTer6)
c.910_913delinsTGCCCATCATTAGATGAG
c.1097_1100delinsTGCCCATCATTAGATGAG (p.Trp366LeufsTer6)
c.*4306_*4309delinsTGCCCATCATTAGATGAG (n.*4306_*4309delinsTGCCCATCATTAGATGAG)
c.836_839delinsTGCCCATCATTAGATGAG (p.Trp279LeufsTer6)
c.5-10532_5-10529delinsTGCCCATCATTAGATGAG (n.5-10532_5-10529delinsTGCCCATCATTAGATGAG)
c.-5_-2delinsTGCCCATCATTAGATGAG (n.-5_-2delinsTGCCCATCATTAGATGAG)
c.-98-24293_-98-24290delinsTGCCCATCATTAGATGAG (n.-98-24293_-98-24290delinsTGCCCATCATTAGATGAG)
n.4659_4662delinsTGCCCATCATTAGATGAG
n.4700_4703delinsTGCCCATCATTAGATGAG
 ClinVar dbSNP
17g.43074481A>CCA10592472BRCA1c.4522T>G (p.Tyr1508Asp)
c.4525T>G (p.Tyr1509Asp)
c.4399T>G (p.Tyr1467Asp)
c.4519T>G (p.Tyr1507Asp)
c.4447T>G (p.Tyr1483Asp)
c.1213T>G (p.Tyr405Asp)
c.1075T>G (p.Tyr359Asp)
c.3637T>G (p.Tyr1213Asp)
c.4402T>G (p.Tyr1468Asp)
c.4591T>G (p.Tyr1531Asp)
c.4384T>G (p.Tyr1462Asp)
c.1087T>G (p.Tyr363Asp)
c.1132T>G (p.Tyr378Asp)
c.4588T>G (p.Tyr1530Asp)
c.912T>G
c.1099T>G (p.Tyr367Asp)
c.*4308T>G (n.*4308T>G)
c.838T>G (p.Tyr280Asp)
c.5-10530T>G (n.5-10530T>G)
c.-3T>G (n.-3T>G)
c.-98-24291T>G (n.-98-24291T>G)
n.4661T>G
n.4702T>G
17g.43074481A>GCA10592473BRCA1c.4522T>C (p.Tyr1508His)
c.4525T>C (p.Tyr1509His)
c.4399T>C (p.Tyr1467His)
c.4519T>C (p.Tyr1507His)
c.4447T>C (p.Tyr1483His)
c.1213T>C (p.Tyr405His)
c.1075T>C (p.Tyr359His)
c.3637T>C (p.Tyr1213His)
c.4402T>C (p.Tyr1468His)
c.4591T>C (p.Tyr1531His)
c.4384T>C (p.Tyr1462His)
c.1087T>C (p.Tyr363His)
c.1132T>C (p.Tyr378His)
c.4588T>C (p.Tyr1530His)
c.912T>C
c.1099T>C (p.Tyr367His)
c.*4308T>C (n.*4308T>C)
c.838T>C (p.Tyr280His)
c.5-10530T>C (n.5-10530T>C)
c.-3T>C (n.-3T>C)
c.-98-24291T>C (n.-98-24291T>C)
n.4661T>C
n.4702T>C
17g.43074481A>TCA10592474BRCA1c.4522T>A (p.Tyr1508Asn)
c.4525T>A (p.Tyr1509Asn)
c.4399T>A (p.Tyr1467Asn)
c.4519T>A (p.Tyr1507Asn)
c.4447T>A (p.Tyr1483Asn)
c.1213T>A (p.Tyr405Asn)
c.1075T>A (p.Tyr359Asn)
c.3637T>A (p.Tyr1213Asn)
c.4402T>A (p.Tyr1468Asn)
c.4591T>A (p.Tyr1531Asn)
c.4384T>A (p.Tyr1462Asn)
c.1087T>A (p.Tyr363Asn)
c.1132T>A (p.Tyr378Asn)
c.4588T>A (p.Tyr1530Asn)
c.912T>A
c.1099T>A (p.Tyr367Asn)
c.*4308T>A (n.*4308T>A)
c.838T>A (p.Tyr280Asn)
c.5-10530T>A (n.5-10530T>A)
c.-3T>A (n.-3T>A)
c.-98-24291T>A (n.-98-24291T>A)
n.4661T>A
n.4702T>A
17g.43074481dupCA2580094405BRCA1c.4522dup (p.Tyr1508LeufsTer12)
c.4525dup (p.Tyr1509LeufsTer12)
c.4399dup (p.Tyr1467LeufsTer12)
c.4519dup (p.Tyr1507LeufsTer12)
c.4447dup (p.Tyr1483LeufsTer12)
c.1213dup (p.Tyr405LeufsTer12)
c.1075dup (p.Tyr359LeufsTer12)
c.3637dup (p.Tyr1213LeufsTer12)
c.4402dup (p.Tyr1468LeufsTer12)
c.4591dup (p.Tyr1531LeufsTer12)
c.4384dup (p.Tyr1462LeufsTer12)
c.1087dup (p.Tyr363LeufsTer12)
c.1132dup (p.Tyr378LeufsTer12)
c.4588dup (p.Tyr1530LeufsTer12)
c.912dup
c.1099dup (p.Tyr367LeufsTer12)
c.*4308dup (n.*4308dup)
c.838dup (p.Tyr280LeufsTer12)
c.5-10530dup (n.5-10530dup)
c.-3dup (n.-3dup)
c.-98-24291dup (n.-98-24291dup)
n.4661dup
n.4702dup
 ClinVar
17g.43074482C>ACA10592475BRCA1c.4521G>T (p.Trp1507Cys)
c.4524G>T (p.Trp1508Cys)
c.4398G>T (p.Trp1466Cys)
c.4518G>T (p.Trp1506Cys)
c.4446G>T (p.Trp1482Cys)
c.1212G>T (p.Trp404Cys)
c.1074G>T (p.Trp358Cys)
c.3636G>T (p.Trp1212Cys)
c.4401G>T (p.Trp1467Cys)
c.4590G>T (p.Trp1530Cys)
c.4383G>T (p.Trp1461Cys)
c.1086G>T (p.Trp362Cys)
c.1131G>T (p.Trp377Cys)
c.4587G>T (p.Trp1529Cys)
c.911G>T
c.1098G>T (p.Trp366Cys)
c.*4307G>T (n.*4307G>T)
c.837G>T (p.Trp279Cys)
c.5-10531G>T (n.5-10531G>T)
c.-4G>T (n.-4G>T)
c.-98-24292G>T (n.-98-24292G>T)
n.4660G>T
n.4701G>T
 dbSNP COSMIC COSMIC
17g.43074482C=CA2260774549BRCA1c.4521G= (p.Trp1507=)
c.4524G= (p.Trp1508=)
c.4398G= (p.Trp1466=)
c.4518G= (p.Trp1506=)
c.4446G= (p.Trp1482=)
c.1212G= (p.Trp404=)
c.1074G= (p.Trp358=)
c.3636G= (p.Trp1212=)
c.4401G= (p.Trp1467=)
c.4590G= (p.Trp1530=)
c.4383G= (p.Trp1461=)
c.1086G= (p.Trp362=)
c.1131G= (p.Trp377=)
c.4587G= (p.Trp1529=)
c.911G=
c.1098G= (p.Trp366=)
c.*4307G= (n.*4307G=)
c.837G= (p.Trp279=)
c.5-10531G= (n.5-10531G=)
c.-4G= (n.-4G=)
c.-98-24292G= (n.-98-24292G=)
n.4660G=
n.4701G=
17g.43074482C>GCA10592476BRCA1c.4521G>C (p.Trp1507Cys)
c.4524G>C (p.Trp1508Cys)
c.4398G>C (p.Trp1466Cys)
c.4518G>C (p.Trp1506Cys)
c.4446G>C (p.Trp1482Cys)
c.1212G>C (p.Trp404Cys)
c.1074G>C (p.Trp358Cys)
c.3636G>C (p.Trp1212Cys)
c.4401G>C (p.Trp1467Cys)
c.4590G>C (p.Trp1530Cys)
c.4383G>C (p.Trp1461Cys)
c.1086G>C (p.Trp362Cys)
c.1131G>C (p.Trp377Cys)
c.4587G>C (p.Trp1529Cys)
c.911G>C
c.1098G>C (p.Trp366Cys)
c.*4307G>C (n.*4307G>C)
c.837G>C (p.Trp279Cys)
c.5-10531G>C (n.5-10531G>C)
c.-4G>C (n.-4G>C)
c.-98-24292G>C (n.-98-24292G>C)
n.4660G>C
n.4701G>C
 dbSNP
17g.43074482C>TCA002893BRCA1c.4521G>A (p.Trp1507Ter)
c.4524G>A (p.Trp1508Ter)
c.4398G>A (p.Trp1466Ter)
c.4518G>A (p.Trp1506Ter)
c.4446G>A (p.Trp1482Ter)
c.1212G>A (p.Trp404Ter)
c.1074G>A (p.Trp358Ter)
c.3636G>A (p.Trp1212Ter)
c.4401G>A (p.Trp1467Ter)
c.4590G>A (p.Trp1530Ter)
c.4383G>A (p.Trp1461Ter)
c.1086G>A (p.Trp362Ter)
c.1131G>A (p.Trp377Ter)
c.4587G>A (p.Trp1529Ter)
c.911G>A
c.1098G>A (p.Trp366Ter)
c.*4307G>A (n.*4307G>A)
c.837G>A (p.Trp279Ter)
c.5-10531G>A (n.5-10531G>A)
c.-4G>A (n.-4G>A)
c.-98-24292G>A (n.-98-24292G>A)
n.4660G>A
n.4701G>A
 ClinVar dbSNP gnomAD v4
17g.43074483C>ACA10592477BRCA1c.4520G>T (p.Trp1507Leu)
c.4523G>T (p.Trp1508Leu)
c.4397G>T (p.Trp1466Leu)
c.4517G>T (p.Trp1506Leu)
c.4445G>T (p.Trp1482Leu)
c.1211G>T (p.Trp404Leu)
c.1073G>T (p.Trp358Leu)
c.3635G>T (p.Trp1212Leu)
c.4400G>T (p.Trp1467Leu)
c.4589G>T (p.Trp1530Leu)
c.4382G>T (p.Trp1461Leu)
c.1085G>T (p.Trp362Leu)
c.1130G>T (p.Trp377Leu)
c.4586G>T (p.Trp1529Leu)
c.910G>T
c.1097G>T (p.Trp366Leu)
c.*4306G>T (n.*4306G>T)
c.836G>T (p.Trp279Leu)
c.5-10532G>T (n.5-10532G>T)
c.-5G>T (n.-5G>T)
c.-98-24293G>T (n.-98-24293G>T)
n.4659G>T
n.4700G>T
 dbSNP
17g.43074483C=CA2260774550BRCA1c.4520G= (p.Trp1507=)
c.4523G= (p.Trp1508=)
c.4397G= (p.Trp1466=)
c.4517G= (p.Trp1506=)
c.4445G= (p.Trp1482=)
c.1211G= (p.Trp404=)
c.1073G= (p.Trp358=)
c.3635G= (p.Trp1212=)
c.4400G= (p.Trp1467=)
c.4589G= (p.Trp1530=)
c.4382G= (p.Trp1461=)
c.1085G= (p.Trp362=)
c.1130G= (p.Trp377=)
c.4586G= (p.Trp1529=)
c.910G=
c.1097G= (p.Trp366=)
c.*4306G= (n.*4306G=)
c.836G= (p.Trp279=)
c.5-10532G= (n.5-10532G=)
c.-5G= (n.-5G=)
c.-98-24293G= (n.-98-24293G=)
n.4659G=
n.4700G=
17g.43074483C>GCA10592478BRCA1c.4520G>C (p.Trp1507Ser)
c.4523G>C (p.Trp1508Ser)
c.4397G>C (p.Trp1466Ser)
c.4517G>C (p.Trp1506Ser)
c.4445G>C (p.Trp1482Ser)
c.1211G>C (p.Trp404Ser)
c.1073G>C (p.Trp358Ser)
c.3635G>C (p.Trp1212Ser)
c.4400G>C (p.Trp1467Ser)
c.4589G>C (p.Trp1530Ser)
c.4382G>C (p.Trp1461Ser)
c.1085G>C (p.Trp362Ser)
c.1130G>C (p.Trp377Ser)
c.4586G>C (p.Trp1529Ser)
c.910G>C
c.1097G>C (p.Trp366Ser)
c.*4306G>C (n.*4306G>C)
c.836G>C (p.Trp279Ser)
c.5-10532G>C (n.5-10532G>C)
c.-5G>C (n.-5G>C)
c.-98-24293G>C (n.-98-24293G>C)
n.4659G>C
n.4700G>C
 dbSNP
17g.43074483C>TCA002892BRCA1c.4520G>A (p.Trp1507Ter)
c.4523G>A (p.Trp1508Ter)
c.4397G>A (p.Trp1466Ter)
c.4517G>A (p.Trp1506Ter)
c.4445G>A (p.Trp1482Ter)
c.1211G>A (p.Trp404Ter)
c.1073G>A (p.Trp358Ter)
c.3635G>A (p.Trp1212Ter)
c.4400G>A (p.Trp1467Ter)
c.4589G>A (p.Trp1530Ter)
c.4382G>A (p.Trp1461Ter)
c.1085G>A (p.Trp362Ter)
c.1130G>A (p.Trp377Ter)
c.4586G>A (p.Trp1529Ter)
c.910G>A
c.1097G>A (p.Trp366Ter)
c.*4306G>A (n.*4306G>A)
c.836G>A (p.Trp279Ter)
c.5-10532G>A (n.5-10532G>A)
c.-5G>A (n.-5G>A)
c.-98-24293G>A (n.-98-24293G>A)
n.4659G>A
n.4700G>A
 ClinVar dbSNP
17g.43074484A>CCA10592479BRCA1c.4519T>G (p.Trp1507Gly)
c.4522T>G (p.Trp1508Gly)
c.4396T>G (p.Trp1466Gly)
c.4516T>G (p.Trp1506Gly)
c.4444T>G (p.Trp1482Gly)
c.1210T>G (p.Trp404Gly)
c.1072T>G (p.Trp358Gly)
c.3634T>G (p.Trp1212Gly)
c.4399T>G (p.Trp1467Gly)
c.4588T>G (p.Trp1530Gly)
c.4381T>G (p.Trp1461Gly)
c.1084T>G (p.Trp362Gly)
c.1129T>G (p.Trp377Gly)
c.4585T>G (p.Trp1529Gly)
c.909T>G
c.1096T>G (p.Trp366Gly)
c.*4305T>G (n.*4305T>G)
c.835T>G (p.Trp279Gly)
c.5-10533T>G (n.5-10533T>G)
c.-6T>G (n.-6T>G)
c.-98-24294T>G (n.-98-24294T>G)
n.4658T>G
n.4699T>G
 dbSNP
17g.43074484A>GCA10592480BRCA1c.4519T>C (p.Trp1507Arg)
c.4522T>C (p.Trp1508Arg)
c.4396T>C (p.Trp1466Arg)
c.4516T>C (p.Trp1506Arg)
c.4444T>C (p.Trp1482Arg)
c.1210T>C (p.Trp404Arg)
c.1072T>C (p.Trp358Arg)
c.3634T>C (p.Trp1212Arg)
c.4399T>C (p.Trp1467Arg)
c.4588T>C (p.Trp1530Arg)
c.4381T>C (p.Trp1461Arg)
c.1084T>C (p.Trp362Arg)
c.1129T>C (p.Trp377Arg)
c.4585T>C (p.Trp1529Arg)
c.909T>C
c.1096T>C (p.Trp366Arg)
c.*4305T>C (n.*4305T>C)
c.835T>C (p.Trp279Arg)
c.5-10533T>C (n.5-10533T>C)
c.-6T>C (n.-6T>C)
c.-98-24294T>C (n.-98-24294T>C)
n.4658T>C
n.4699T>C
 dbSNP
17g.43074484A>TCA10592481BRCA1c.4519T>A (p.Trp1507Arg)
c.4522T>A (p.Trp1508Arg)
c.4396T>A (p.Trp1466Arg)
c.4516T>A (p.Trp1506Arg)
c.4444T>A (p.Trp1482Arg)
c.1210T>A (p.Trp404Arg)
c.1072T>A (p.Trp358Arg)
c.3634T>A (p.Trp1212Arg)
c.4399T>A (p.Trp1467Arg)
c.4588T>A (p.Trp1530Arg)
c.4381T>A (p.Trp1461Arg)
c.1084T>A (p.Trp362Arg)
c.1129T>A (p.Trp377Arg)
c.4585T>A (p.Trp1529Arg)
c.909T>A
c.1096T>A (p.Trp366Arg)
c.*4305T>A (n.*4305T>A)
c.835T>A (p.Trp279Arg)
c.5-10533T>A (n.5-10533T>A)
c.-6T>A (n.-6T>A)
c.-98-24294T>A (n.-98-24294T>A)
n.4658T>A
n.4699T>A
 dbSNP
17g.43074485C>ACA10592482BRCA1c.4518G>T (p.Arg1506Ser)
c.4521G>T (p.Arg1507Ser)
c.4395G>T (p.Arg1465Ser)
c.4515G>T (p.Arg1505Ser)
c.4443G>T (p.Arg1481Ser)
c.1209G>T (p.Arg403Ser)
c.1071G>T (p.Arg357Ser)
c.3633G>T (p.Arg1211Ser)
c.4398G>T (p.Arg1466Ser)
c.4587G>T (p.Arg1529Ser)
c.4380G>T (p.Arg1460Ser)
c.1083G>T (p.Arg361Ser)
c.1128G>T (p.Arg376Ser)
c.4584G>T (p.Arg1528Ser)
c.908G>T
c.1095G>T (p.Arg365Ser)
c.*4304G>T (n.*4304G>T)
c.834G>T (p.Arg278Ser)
c.5-10534G>T (n.5-10534G>T)
c.-7G>T (n.-7G>T)
c.-98-24295G>T (n.-98-24295G>T)
n.4657G>T
n.4698G>T
 ClinVar dbSNP
17g.43074485C=CA2260774551BRCA1c.4518G= (p.Arg1506=)
c.4521G= (p.Arg1507=)
c.4395G= (p.Arg1465=)
c.4515G= (p.Arg1505=)
c.4443G= (p.Arg1481=)
c.1209G= (p.Arg403=)
c.1071G= (p.Arg357=)
c.3633G= (p.Arg1211=)
c.4398G= (p.Arg1466=)
c.4587G= (p.Arg1529=)
c.4380G= (p.Arg1460=)
c.1083G= (p.Arg361=)
c.1128G= (p.Arg376=)
c.4584G= (p.Arg1528=)
c.908G=
c.1095G= (p.Arg365=)
c.*4304G= (n.*4304G=)
c.834G= (p.Arg278=)
c.5-10534G= (n.5-10534G=)
c.-7G= (n.-7G=)
c.-98-24295G= (n.-98-24295G=)
n.4657G=
n.4698G=
17g.43074485C>GCA10592483BRCA1c.4518G>C (p.Arg1506Ser)
c.4521G>C (p.Arg1507Ser)
c.4395G>C (p.Arg1465Ser)
c.4515G>C (p.Arg1505Ser)
c.4443G>C (p.Arg1481Ser)
c.1209G>C (p.Arg403Ser)
c.1071G>C (p.Arg357Ser)
c.3633G>C (p.Arg1211Ser)
c.4398G>C (p.Arg1466Ser)
c.4587G>C (p.Arg1529Ser)
c.4380G>C (p.Arg1460Ser)
c.1083G>C (p.Arg361Ser)
c.1128G>C (p.Arg376Ser)
c.4584G>C (p.Arg1528Ser)
c.908G>C
c.1095G>C (p.Arg365Ser)
c.*4304G>C (n.*4304G>C)
c.834G>C (p.Arg278Ser)
c.5-10534G>C (n.5-10534G>C)
c.-7G>C (n.-7G>C)
c.-98-24295G>C (n.-98-24295G>C)
n.4657G>C
n.4698G>C
 dbSNP
17g.43074485C>TCA500146658BRCA1c.4518G>A (p.Arg1506=)
c.4521G>A (p.Arg1507=)
c.4395G>A (p.Arg1465=)
c.4515G>A (p.Arg1505=)
c.4443G>A (p.Arg1481=)
c.1209G>A (p.Arg403=)
c.1071G>A (p.Arg357=)
c.3633G>A (p.Arg1211=)
c.4398G>A (p.Arg1466=)
c.4587G>A (p.Arg1529=)
c.4380G>A (p.Arg1460=)
c.1083G>A (p.Arg361=)
c.1128G>A (p.Arg376=)
c.4584G>A (p.Arg1528=)
c.908G>A
c.1095G>A (p.Arg365=)
c.*4304G>A (n.*4304G>A)
c.834G>A (p.Arg278=)
c.5-10534G>A (n.5-10534G>A)
c.-7G>A (n.-7G>A)
c.-98-24295G>A (n.-98-24295G>A)
n.4657G>A
n.4698G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43074486C>ACA10592484BRCA1c.4517G>T (p.Arg1506Met)
c.4520G>T (p.Arg1507Met)
c.4394G>T (p.Arg1465Met)
c.4514G>T (p.Arg1505Met)
c.4442G>T (p.Arg1481Met)
c.1208G>T (p.Arg403Met)
c.1070G>T (p.Arg357Met)
c.3632G>T (p.Arg1211Met)
c.4397G>T (p.Arg1466Met)
c.4586G>T (p.Arg1529Met)
c.4379G>T (p.Arg1460Met)
c.1082G>T (p.Arg361Met)
c.1127G>T (p.Arg376Met)
c.4583G>T (p.Arg1528Met)
c.907G>T
c.1094G>T (p.Arg365Met)
c.*4303G>T (n.*4303G>T)
c.833G>T (p.Arg278Met)
c.5-10535G>T (n.5-10535G>T)
c.-8G>T (n.-8G>T)
c.-98-24296G>T (n.-98-24296G>T)
n.4656G>T
n.4697G>T
 dbSNP
17g.43074486C=CA2260774552BRCA1c.4517G= (p.Arg1506=)
c.4520G= (p.Arg1507=)
c.4394G= (p.Arg1465=)
c.4514G= (p.Arg1505=)
c.4442G= (p.Arg1481=)
c.1208G= (p.Arg403=)
c.1070G= (p.Arg357=)
c.3632G= (p.Arg1211=)
c.4397G= (p.Arg1466=)
c.4586G= (p.Arg1529=)
c.4379G= (p.Arg1460=)
c.1082G= (p.Arg361=)
c.1127G= (p.Arg376=)
c.4583G= (p.Arg1528=)
c.907G=
c.1094G= (p.Arg365=)
c.*4303G= (n.*4303G=)
c.833G= (p.Arg278=)
c.5-10535G= (n.5-10535G=)
c.-8G= (n.-8G=)
c.-98-24296G= (n.-98-24296G=)
n.4656G=
n.4697G=
17g.43074486C>GCA002891BRCA1c.4517G>C (p.Arg1506Thr)
c.4520G>C (p.Arg1507Thr)
c.4394G>C (p.Arg1465Thr)
c.4514G>C (p.Arg1505Thr)
c.4442G>C (p.Arg1481Thr)
c.1208G>C (p.Arg403Thr)
c.1070G>C (p.Arg357Thr)
c.3632G>C (p.Arg1211Thr)
c.4397G>C (p.Arg1466Thr)
c.4586G>C (p.Arg1529Thr)
c.4379G>C (p.Arg1460Thr)
c.1082G>C (p.Arg361Thr)
c.1127G>C (p.Arg376Thr)
c.4583G>C (p.Arg1528Thr)
c.907G>C
c.1094G>C (p.Arg365Thr)
c.*4303G>C (n.*4303G>C)
c.833G>C (p.Arg278Thr)
c.5-10535G>C (n.5-10535G>C)
c.-8G>C (n.-8G>C)
c.-98-24296G>C (n.-98-24296G>C)
n.4656G>C
n.4697G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43074486C>TCA10592485BRCA1c.4517G>A (p.Arg1506Lys)
c.4520G>A (p.Arg1507Lys)
c.4394G>A (p.Arg1465Lys)
c.4514G>A (p.Arg1505Lys)
c.4442G>A (p.Arg1481Lys)
c.1208G>A (p.Arg403Lys)
c.1070G>A (p.Arg357Lys)
c.3632G>A (p.Arg1211Lys)
c.4397G>A (p.Arg1466Lys)
c.4586G>A (p.Arg1529Lys)
c.4379G>A (p.Arg1460Lys)
c.1082G>A (p.Arg361Lys)
c.1127G>A (p.Arg376Lys)
c.4583G>A (p.Arg1528Lys)
c.907G>A
c.1094G>A (p.Arg365Lys)
c.*4303G>A (n.*4303G>A)
c.833G>A (p.Arg278Lys)
c.5-10535G>A (n.5-10535G>A)
c.-8G>A (n.-8G>A)
c.-98-24296G>A (n.-98-24296G>A)
n.4656G>A
n.4697G>A
 dbSNP gnomAD v4
17g.43074487T>ACA10592486BRCA1c.4516A>T (p.Arg1506Trp)
c.4519A>T (p.Arg1507Trp)
c.4393A>T (p.Arg1465Trp)
c.4513A>T (p.Arg1505Trp)
c.4441A>T (p.Arg1481Trp)
c.1207A>T (p.Arg403Trp)
c.1069A>T (p.Arg357Trp)
c.3631A>T (p.Arg1211Trp)
c.4396A>T (p.Arg1466Trp)
c.4585A>T (p.Arg1529Trp)
c.4378A>T (p.Arg1460Trp)
c.1081A>T (p.Arg361Trp)
c.1126A>T (p.Arg376Trp)
c.4582A>T (p.Arg1528Trp)
c.906A>T
c.1093A>T (p.Arg365Trp)
c.*4302A>T (n.*4302A>T)
c.832A>T (p.Arg278Trp)
c.5-10536A>T (n.5-10536A>T)
c.-9A>T (n.-9A>T)
c.-98-24297A>T (n.-98-24297A>T)
n.4655A>T
n.4696A>T
17g.43074487T>CCA10592487BRCA1c.4516A>G (p.Arg1506Gly)
c.4519A>G (p.Arg1507Gly)
c.4393A>G (p.Arg1465Gly)
c.4513A>G (p.Arg1505Gly)
c.4441A>G (p.Arg1481Gly)
c.1207A>G (p.Arg403Gly)
c.1069A>G (p.Arg357Gly)
c.3631A>G (p.Arg1211Gly)
c.4396A>G (p.Arg1466Gly)
c.4585A>G (p.Arg1529Gly)
c.4378A>G (p.Arg1460Gly)
c.1081A>G (p.Arg361Gly)
c.1126A>G (p.Arg376Gly)
c.4582A>G (p.Arg1528Gly)
c.906A>G
c.1093A>G (p.Arg365Gly)
c.*4302A>G (n.*4302A>G)
c.832A>G (p.Arg278Gly)
c.5-10536A>G (n.5-10536A>G)
c.-9A>G (n.-9A>G)
c.-98-24297A>G (n.-98-24297A>G)
n.4655A>G
n.4696A>G
 ClinVar dbSNP
17g.43074487T>GCA500146660BRCA1c.4516A>C (p.Arg1506=)
c.4519A>C (p.Arg1507=)
c.4393A>C (p.Arg1465=)
c.4513A>C (p.Arg1505=)
c.4441A>C (p.Arg1481=)
c.1207A>C (p.Arg403=)
c.1069A>C (p.Arg357=)
c.3631A>C (p.Arg1211=)
c.4396A>C (p.Arg1466=)
c.4585A>C (p.Arg1529=)
c.4378A>C (p.Arg1460=)
c.1081A>C (p.Arg361=)
c.1126A>C (p.Arg376=)
c.4582A>C (p.Arg1528=)
c.906A>C
c.1093A>C (p.Arg365=)
c.*4302A>C (n.*4302A>C)
c.832A>C (p.Arg278=)
c.5-10536A>C (n.5-10536A>C)
c.-9A>C (n.-9A>C)
c.-98-24297A>C (n.-98-24297A>C)
n.4655A>C
n.4696A>C
17g.43074487T=CA2260774553BRCA1c.4516A= (p.Arg1506=)
c.4519A= (p.Arg1507=)
c.4393A= (p.Arg1465=)
c.4513A= (p.Arg1505=)
c.4441A= (p.Arg1481=)
c.1207A= (p.Arg403=)
c.1069A= (p.Arg357=)
c.3631A= (p.Arg1211=)
c.4396A= (p.Arg1466=)
c.4585A= (p.Arg1529=)
c.4378A= (p.Arg1460=)
c.1081A= (p.Arg361=)
c.1126A= (p.Arg376=)
c.4582A= (p.Arg1528=)
c.906A=
c.1093A= (p.Arg365=)
c.*4302A= (n.*4302A=)
c.832A= (p.Arg278=)
c.5-10536A= (n.5-10536A=)
c.-9A= (n.-9A=)
c.-98-24297A= (n.-98-24297A=)
n.4655A=
n.4696A=

Number of alleles fetched