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.43071198_43074416dupCA658653641BRCA1c.4588_4714dup
c.4591_4717dup
c.4465_4591dup
c.4585_4711dup
c.4513_4639dup
c.1279_1405dup
c.1141_1267dup
c.3703_3829dup
c.4468_4594dup
c.4657_4783dup
c.4450_4576dup
c.1153_1279dup
c.1198_1324dup
c.4654_4780dup
c.978_1104dup
c.1165_1291dup
c.*4374_*4500dup
c.904_1030dup
c.5-10464_5-7246dup (n.5-10464_5-7246dup)
c.64_190dup
c.-98-24225_-98-21007dup (n.-98-24225_-98-21007dup)
n.4727_4853dup
n.4768_4894dup
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.43074332_43074352delinsTAGATCTTGCCTTGGCAAGTACA2260774417BRCA1c.4651_4671delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1551=)
c.4654_4674delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1552=)
c.4528_4548delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1510=)
c.4648_4668delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1550=)
c.4576_4596delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1526=)
c.1342_1362delinsTACTTGCCAAGGCAAGATCTA (p.Tyr448=)
c.1204_1224delinsTACTTGCCAAGGCAAGATCTA (p.Tyr402=)
c.3766_3786delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1256=)
c.4531_4551delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1511=)
c.4720_4740delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1574=)
c.4513_4533delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1505=)
c.1216_1236delinsTACTTGCCAAGGCAAGATCTA (p.Tyr406=)
c.1261_1281delinsTACTTGCCAAGGCAAGATCTA (p.Tyr421=)
c.4717_4737delinsTACTTGCCAAGGCAAGATCTA (p.Tyr1573=)
c.1041_1061delinsTACTTGCCAAGGCAAGATCTA
c.1228_1248delinsTACTTGCCAAGGCAAGATCTA (p.Tyr410=)
c.*4437_*4457delinsTACTTGCCAAGGCAAGATCTA (n.*4437_*4457delinsTACTTGCCAAGGCAAGATCTA)
c.967_987delinsTACTTGCCAAGGCAAGATCTA (p.Tyr323=)
c.5-10401_5-10381delinsTACTTGCCAAGGCAAGATCTA (n.5-10401_5-10381delinsTACTTGCCAAGGCAAGATCTA)
c.127_147delinsTACTTGCCAAGGCAAGATCTA (p.Tyr43=)
c.-98-24162_-98-24142delinsTACTTGCCAAGGCAAGATCTA (n.-98-24162_-98-24142delinsTACTTGCCAAGGCAAGATCTA)
n.4790_4810delinsTACTTGCCAAGGCAAGATCTA
n.4831_4851delinsTACTTGCCAAGGCAAGATCTA
17g.43074337_43074356delCA10580512BRCA1c.4651_4670del (p.Tyr1551ArgfsTer15)
c.4654_4673del (p.Tyr1552ArgfsTer15)
c.4528_4547del (p.Tyr1510ArgfsTer15)
c.4648_4667del (p.Tyr1550ArgfsTer15)
c.4576_4595del (p.Tyr1526ArgfsTer15)
c.1342_1361del (p.Tyr448ArgfsTer15)
c.1204_1223del (p.Tyr402ArgfsTer15)
c.3766_3785del (p.Tyr1256ArgfsTer15)
c.4531_4550del (p.Tyr1511ArgfsTer15)
c.4720_4739del (p.Tyr1574ArgfsTer15)
c.4513_4532del (p.Tyr1505ArgfsTer15)
c.1216_1235del (p.Tyr406ArgfsTer15)
c.1261_1280del (p.Tyr421ArgfsTer15)
c.4717_4736del (p.Tyr1573ArgfsTer15)
c.1041_1060del
c.1228_1247del (p.Tyr410ArgfsTer15)
c.*4437_*4456del (n.*4437_*4456del)
c.967_986del (p.Tyr323ArgfsTer15)
c.5-10401_5-10382del (n.5-10401_5-10382del)
c.127_146del (p.Tyr43ArgfsTer15)
c.-98-24162_-98-24143del (n.-98-24162_-98-24143del)
n.4790_4809del
n.4831_4850del
 ClinVar dbSNP
17g.43074338_43074361dupCA2733909348BRCA1c.4644_4667dup (p.Gln1555_Asp1556insGluThrSerTyrLeuProArgGln)
c.4647_4670dup (p.Gln1556_Asp1557insGluThrSerTyrLeuProArgGln)
c.4521_4544dup (p.Gln1514_Asp1515insGluThrSerTyrLeuProArgGln)
c.4641_4664dup (p.Gln1554_Asp1555insGluThrSerTyrLeuProArgGln)
c.4569_4592dup (p.Gln1530_Asp1531insGluThrSerTyrLeuProArgGln)
c.1335_1358dup (p.Gln452_Asp453insGluThrSerTyrLeuProArgGln)
c.1197_1220dup (p.Gln406_Asp407insGluThrSerTyrLeuProArgGln)
c.3759_3782dup (p.Gln1260_Asp1261insGluThrSerTyrLeuProArgGln)
c.4524_4547dup (p.Gln1515_Asp1516insGluThrSerTyrLeuProArgGln)
c.4713_4736dup (p.Gln1578_Asp1579insGluThrSerTyrLeuProArgGln)
c.4506_4529dup (p.Gln1509_Asp1510insGluThrSerTyrLeuProArgGln)
c.1209_1232dup (p.Gln410_Asp411insGluThrSerTyrLeuProArgGln)
c.1254_1277dup (p.Gln425_Asp426insGluThrSerTyrLeuProArgGln)
c.4710_4733dup (p.Gln1577_Asp1578insGluThrSerTyrLeuProArgGln)
c.1034_1057dup
c.1221_1244dup (p.Gln414_Asp415insGluThrSerTyrLeuProArgGln)
c.*4430_*4453dup (n.*4430_*4453dup)
c.960_983dup (p.Gln327_Asp328insGluThrSerTyrLeuProArgGln)
c.5-10408_5-10385dup (n.5-10408_5-10385dup)
c.120_143dup (p.Gln47_Asp48insGluThrSerTyrLeuProArgGln)
c.-98-24169_-98-24146dup (n.-98-24169_-98-24146dup)
n.4783_4806dup
n.4824_4847dup
 dbSNP
17g.43074340_43074360delinsGCCTTGGCAAGTAAGATGTTTCA2260774428BRCA1c.4643_4663delinsAAACATCTTACTTGCCAAGGC (p.Glu1548=)
c.4646_4666delinsAAACATCTTACTTGCCAAGGC (p.Glu1549=)
c.4520_4540delinsAAACATCTTACTTGCCAAGGC (p.Glu1507=)
c.4640_4660delinsAAACATCTTACTTGCCAAGGC (p.Glu1547=)
c.4568_4588delinsAAACATCTTACTTGCCAAGGC (p.Glu1523=)
c.1334_1354delinsAAACATCTTACTTGCCAAGGC (p.Glu445=)
c.1196_1216delinsAAACATCTTACTTGCCAAGGC (p.Glu399=)
c.3758_3778delinsAAACATCTTACTTGCCAAGGC (p.Glu1253=)
c.4523_4543delinsAAACATCTTACTTGCCAAGGC (p.Glu1508=)
c.4712_4732delinsAAACATCTTACTTGCCAAGGC (p.Glu1571=)
c.4505_4525delinsAAACATCTTACTTGCCAAGGC (p.Glu1502=)
c.1208_1228delinsAAACATCTTACTTGCCAAGGC (p.Glu403=)
c.1253_1273delinsAAACATCTTACTTGCCAAGGC (p.Glu418=)
c.4709_4729delinsAAACATCTTACTTGCCAAGGC (p.Glu1570=)
c.1033_1053delinsAAACATCTTACTTGCCAAGGC
c.1220_1240delinsAAACATCTTACTTGCCAAGGC (p.Glu407=)
c.*4429_*4449delinsAAACATCTTACTTGCCAAGGC (n.*4429_*4449delinsAAACATCTTACTTGCCAAGGC)
c.959_979delinsAAACATCTTACTTGCCAAGGC (p.Glu320=)
c.5-10409_5-10389delinsAAACATCTTACTTGCCAAGGC (n.5-10409_5-10389delinsAAACATCTTACTTGCCAAGGC)
c.119_139delinsAAACATCTTACTTGCCAAGGC (p.Glu40=)
c.-98-24170_-98-24150delinsAAACATCTTACTTGCCAAGGC (n.-98-24170_-98-24150delinsAAACATCTTACTTGCCAAGGC)
n.4782_4802delinsAAACATCTTACTTGCCAAGGC
n.4823_4843delinsAAACATCTTACTTGCCAAGGC
17g.43074343_43074362delCA002945BRCA1c.4643_4662del (p.Glu1548AlafsTer18)
c.4646_4665del (p.Glu1549AlafsTer18)
c.4520_4539del (p.Glu1507AlafsTer18)
c.4640_4659del (p.Glu1547AlafsTer18)
c.4568_4587del (p.Glu1523AlafsTer18)
c.1334_1353del (p.Glu445AlafsTer18)
c.1196_1215del (p.Glu399AlafsTer18)
c.3758_3777del (p.Glu1253AlafsTer18)
c.4523_4542del (p.Glu1508AlafsTer18)
c.4712_4731del (p.Glu1571AlafsTer18)
c.4505_4524del (p.Glu1502AlafsTer18)
c.1208_1227del (p.Glu403AlafsTer18)
c.1253_1272del (p.Glu418AlafsTer18)
c.4709_4728del (p.Glu1570AlafsTer18)
c.1033_1052del
c.1220_1239del (p.Glu407AlafsTer18)
c.*4429_*4448del (n.*4429_*4448del)
c.959_978del (p.Glu320AlafsTer18)
c.5-10409_5-10390del (n.5-10409_5-10390del)
c.119_138del (p.Glu40AlafsTer18)
c.-98-24170_-98-24151del (n.-98-24170_-98-24151del)
n.4782_4801del
n.4823_4842del
 ClinVar dbSNP
17g.43074351_43074354delCA002950BRCA1c.4652_4655del (p.Tyr1551CysfsTer6)
c.4655_4658del (p.Tyr1552CysfsTer6)
c.4529_4532del (p.Tyr1510CysfsTer6)
c.4649_4652del (p.Tyr1550CysfsTer6)
c.4577_4580del (p.Tyr1526CysfsTer6)
c.1343_1346del (p.Tyr448CysfsTer6)
c.1205_1208del (p.Tyr402CysfsTer6)
c.3767_3770del (p.Tyr1256CysfsTer6)
c.4532_4535del (p.Tyr1511CysfsTer6)
c.4721_4724del (p.Tyr1574CysfsTer6)
c.4514_4517del (p.Tyr1505CysfsTer6)
c.1217_1220del (p.Tyr406CysfsTer6)
c.1262_1265del (p.Tyr421CysfsTer6)
c.4718_4721del (p.Tyr1573CysfsTer6)
c.1042_1045del
c.1229_1232del (p.Tyr410CysfsTer6)
c.*4438_*4441del (n.*4438_*4441del)
c.968_971del (p.Tyr323CysfsTer6)
c.5-10400_5-10397del (n.5-10400_5-10397del)
c.128_131del (p.Tyr43CysfsTer6)
c.-98-24161_-98-24158del (n.-98-24161_-98-24158del)
n.4791_4794del
n.4832_4835del
 ClinVar dbSNP gnomAD v4
17g.43074352A=CA2260774440BRCA1c.4651T= (p.Tyr1551=)
c.4654T= (p.Tyr1552=)
c.4528T= (p.Tyr1510=)
c.4648T= (p.Tyr1550=)
c.4576T= (p.Tyr1526=)
c.1342T= (p.Tyr448=)
c.1204T= (p.Tyr402=)
c.3766T= (p.Tyr1256=)
c.4531T= (p.Tyr1511=)
c.4720T= (p.Tyr1574=)
c.4513T= (p.Tyr1505=)
c.1216T= (p.Tyr406=)
c.1261T= (p.Tyr421=)
c.4717T= (p.Tyr1573=)
c.1041T=
c.1228T= (p.Tyr410=)
c.*4437T= (n.*4437T=)
c.967T= (p.Tyr323=)
c.5-10401T= (n.5-10401T=)
c.127T= (p.Tyr43=)
c.-98-24162T= (n.-98-24162T=)
n.4790T=
n.4831T=
17g.43074352A>CCA10592204BRCA1c.4651T>G (p.Tyr1551Asp)
c.4654T>G (p.Tyr1552Asp)
c.4528T>G (p.Tyr1510Asp)
c.4648T>G (p.Tyr1550Asp)
c.4576T>G (p.Tyr1526Asp)
c.1342T>G (p.Tyr448Asp)
c.1204T>G (p.Tyr402Asp)
c.3766T>G (p.Tyr1256Asp)
c.4531T>G (p.Tyr1511Asp)
c.4720T>G (p.Tyr1574Asp)
c.4513T>G (p.Tyr1505Asp)
c.1216T>G (p.Tyr406Asp)
c.1261T>G (p.Tyr421Asp)
c.4717T>G (p.Tyr1573Asp)
c.1041T>G
c.1228T>G (p.Tyr410Asp)
c.*4437T>G (n.*4437T>G)
c.967T>G (p.Tyr323Asp)
c.5-10401T>G (n.5-10401T>G)
c.127T>G (p.Tyr43Asp)
c.-98-24162T>G (n.-98-24162T>G)
n.4790T>G
n.4831T>G
17g.43074352A>GCA10592205BRCA1c.4651T>C (p.Tyr1551His)
c.4654T>C (p.Tyr1552His)
c.4528T>C (p.Tyr1510His)
c.4648T>C (p.Tyr1550His)
c.4576T>C (p.Tyr1526His)
c.1342T>C (p.Tyr448His)
c.1204T>C (p.Tyr402His)
c.3766T>C (p.Tyr1256His)
c.4531T>C (p.Tyr1511His)
c.4720T>C (p.Tyr1574His)
c.4513T>C (p.Tyr1505His)
c.1216T>C (p.Tyr406His)
c.1261T>C (p.Tyr421His)
c.4717T>C (p.Tyr1573His)
c.1041T>C
c.1228T>C (p.Tyr410His)
c.*4437T>C (n.*4437T>C)
c.967T>C (p.Tyr323His)
c.5-10401T>C (n.5-10401T>C)
c.127T>C (p.Tyr43His)
c.-98-24162T>C (n.-98-24162T>C)
n.4790T>C
n.4831T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43074352A>TCA10592206BRCA1c.4651T>A (p.Tyr1551Asn)
c.4654T>A (p.Tyr1552Asn)
c.4528T>A (p.Tyr1510Asn)
c.4648T>A (p.Tyr1550Asn)
c.4576T>A (p.Tyr1526Asn)
c.1342T>A (p.Tyr448Asn)
c.1204T>A (p.Tyr402Asn)
c.3766T>A (p.Tyr1256Asn)
c.4531T>A (p.Tyr1511Asn)
c.4720T>A (p.Tyr1574Asn)
c.4513T>A (p.Tyr1505Asn)
c.1216T>A (p.Tyr406Asn)
c.1261T>A (p.Tyr421Asn)
c.4717T>A (p.Tyr1573Asn)
c.1041T>A
c.1228T>A (p.Tyr410Asn)
c.*4437T>A (n.*4437T>A)
c.967T>A (p.Tyr323Asn)
c.5-10401T>A (n.5-10401T>A)
c.127T>A (p.Tyr43Asn)
c.-98-24162T>A (n.-98-24162T>A)
n.4790T>A
n.4831T>A
 dbSNP
17g.43074353delCA2573154045BRCA1c.4651del (p.Tyr1551ThrfsTer7)
c.4654del (p.Tyr1552ThrfsTer7)
c.4528del (p.Tyr1510ThrfsTer7)
c.4648del (p.Tyr1550ThrfsTer7)
c.4576del (p.Tyr1526ThrfsTer7)
c.1342del (p.Tyr448ThrfsTer7)
c.1204del (p.Tyr402ThrfsTer7)
c.3766del (p.Tyr1256ThrfsTer7)
c.4531del (p.Tyr1511ThrfsTer7)
c.4720del (p.Tyr1574ThrfsTer7)
c.4513del (p.Tyr1505ThrfsTer7)
c.1216del (p.Tyr406ThrfsTer7)
c.1261del (p.Tyr421ThrfsTer7)
c.4717del (p.Tyr1573ThrfsTer7)
c.1041del
c.1228del (p.Tyr410ThrfsTer7)
c.*4437del (n.*4437del)
c.967del (p.Tyr323ThrfsTer7)
c.5-10401del (n.5-10401del)
c.127del (p.Tyr43ThrfsTer7)
c.-98-24162del (n.-98-24162del)
n.4790del
n.4831del
 ClinVar dbSNP
17g.43074353A=CA2260774441BRCA1c.4650T= (p.Ser1550=)
c.4653T= (p.Ser1551=)
c.4527T= (p.Ser1509=)
c.4647T= (p.Ser1549=)
c.4575T= (p.Ser1525=)
c.1341T= (p.Ser447=)
c.1203T= (p.Ser401=)
c.3765T= (p.Ser1255=)
c.4530T= (p.Ser1510=)
c.4719T= (p.Ser1573=)
c.4512T= (p.Ser1504=)
c.1215T= (p.Ser405=)
c.1260T= (p.Ser420=)
c.4716T= (p.Ser1572=)
c.1040T=
c.1227T= (p.Ser409=)
c.*4436T= (n.*4436T=)
c.966T= (p.Ser322=)
c.5-10402T= (n.5-10402T=)
c.126T= (p.Ser42=)
c.-98-24163T= (n.-98-24163T=)
n.4789T=
n.4830T=
17g.43074353A>CCA500146504BRCA1c.4650T>G (p.Ser1550=)
c.4653T>G (p.Ser1551=)
c.4527T>G (p.Ser1509=)
c.4647T>G (p.Ser1549=)
c.4575T>G (p.Ser1525=)
c.1341T>G (p.Ser447=)
c.1203T>G (p.Ser401=)
c.3765T>G (p.Ser1255=)
c.4530T>G (p.Ser1510=)
c.4719T>G (p.Ser1573=)
c.4512T>G (p.Ser1504=)
c.1215T>G (p.Ser405=)
c.1260T>G (p.Ser420=)
c.4716T>G (p.Ser1572=)
c.1040T>G
c.1227T>G (p.Ser409=)
c.*4436T>G (n.*4436T>G)
c.966T>G (p.Ser322=)
c.5-10402T>G (n.5-10402T>G)
c.126T>G (p.Ser42=)
c.-98-24163T>G (n.-98-24163T>G)
n.4789T>G
n.4830T>G
17g.43074353A>GCA002949BRCA1c.4650T>C (p.Ser1550=)
c.4653T>C (p.Ser1551=)
c.4527T>C (p.Ser1509=)
c.4647T>C (p.Ser1549=)
c.4575T>C (p.Ser1525=)
c.1341T>C (p.Ser447=)
c.1203T>C (p.Ser401=)
c.3765T>C (p.Ser1255=)
c.4530T>C (p.Ser1510=)
c.4719T>C (p.Ser1573=)
c.4512T>C (p.Ser1504=)
c.1215T>C (p.Ser405=)
c.1260T>C (p.Ser420=)
c.4716T>C (p.Ser1572=)
c.1040T>C
c.1227T>C (p.Ser409=)
c.*4436T>C (n.*4436T>C)
c.966T>C (p.Ser322=)
c.5-10402T>C (n.5-10402T>C)
c.126T>C (p.Ser42=)
c.-98-24163T>C (n.-98-24163T>C)
n.4789T>C
n.4830T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43074353A>TCA500146503BRCA1c.4650T>A (p.Ser1550=)
c.4653T>A (p.Ser1551=)
c.4527T>A (p.Ser1509=)
c.4647T>A (p.Ser1549=)
c.4575T>A (p.Ser1525=)
c.1341T>A (p.Ser447=)
c.1203T>A (p.Ser401=)
c.3765T>A (p.Ser1255=)
c.4530T>A (p.Ser1510=)
c.4719T>A (p.Ser1573=)
c.4512T>A (p.Ser1504=)
c.1215T>A (p.Ser405=)
c.1260T>A (p.Ser420=)
c.4716T>A (p.Ser1572=)
c.1040T>A
c.1227T>A (p.Ser409=)
c.*4436T>A (n.*4436T>A)
c.966T>A (p.Ser322=)
c.5-10402T>A (n.5-10402T>A)
c.126T>A (p.Ser42=)
c.-98-24163T>A (n.-98-24163T>A)
n.4789T>A
n.4830T>A
 dbSNP
17g.43074354G>ACA10592207BRCA1c.4649C>T (p.Ser1550Phe)
c.4652C>T (p.Ser1551Phe)
c.4526C>T (p.Ser1509Phe)
c.4646C>T (p.Ser1549Phe)
c.4574C>T (p.Ser1525Phe)
c.1340C>T (p.Ser447Phe)
c.1202C>T (p.Ser401Phe)
c.3764C>T (p.Ser1255Phe)
c.4529C>T (p.Ser1510Phe)
c.4718C>T (p.Ser1573Phe)
c.4511C>T (p.Ser1504Phe)
c.1214C>T (p.Ser405Phe)
c.1259C>T (p.Ser420Phe)
c.4715C>T (p.Ser1572Phe)
c.1039C>T
c.1226C>T (p.Ser409Phe)
c.*4435C>T (n.*4435C>T)
c.965C>T (p.Ser322Phe)
c.5-10403C>T (n.5-10403C>T)
c.125C>T (p.Ser42Phe)
c.-98-24164C>T (n.-98-24164C>T)
n.4788C>T
n.4829C>T
 ClinVar dbSNP
17g.43074354G>CCA10592208BRCA1c.4649C>G (p.Ser1550Cys)
c.4652C>G (p.Ser1551Cys)
c.4526C>G (p.Ser1509Cys)
c.4646C>G (p.Ser1549Cys)
c.4574C>G (p.Ser1525Cys)
c.1340C>G (p.Ser447Cys)
c.1202C>G (p.Ser401Cys)
c.3764C>G (p.Ser1255Cys)
c.4529C>G (p.Ser1510Cys)
c.4718C>G (p.Ser1573Cys)
c.4511C>G (p.Ser1504Cys)
c.1214C>G (p.Ser405Cys)
c.1259C>G (p.Ser420Cys)
c.4715C>G (p.Ser1572Cys)
c.1039C>G
c.1226C>G (p.Ser409Cys)
c.*4435C>G (n.*4435C>G)
c.965C>G (p.Ser322Cys)
c.5-10403C>G (n.5-10403C>G)
c.125C>G (p.Ser42Cys)
c.-98-24164C>G (n.-98-24164C>G)
n.4788C>G
n.4829C>G
 dbSNP
17g.43074354G=CA2260774442BRCA1c.4649C= (p.Ser1550=)
c.4652C= (p.Ser1551=)
c.4526C= (p.Ser1509=)
c.4646C= (p.Ser1549=)
c.4574C= (p.Ser1525=)
c.1340C= (p.Ser447=)
c.1202C= (p.Ser401=)
c.3764C= (p.Ser1255=)
c.4529C= (p.Ser1510=)
c.4718C= (p.Ser1573=)
c.4511C= (p.Ser1504=)
c.1214C= (p.Ser405=)
c.1259C= (p.Ser420=)
c.4715C= (p.Ser1572=)
c.1039C=
c.1226C= (p.Ser409=)
c.*4435C= (n.*4435C=)
c.965C= (p.Ser322=)
c.5-10403C= (n.5-10403C=)
c.125C= (p.Ser42=)
c.-98-24164C= (n.-98-24164C=)
n.4788C=
n.4829C=
17g.43074354G>TCA10592209BRCA1c.4649C>A (p.Ser1550Tyr)
c.4652C>A (p.Ser1551Tyr)
c.4526C>A (p.Ser1509Tyr)
c.4646C>A (p.Ser1549Tyr)
c.4574C>A (p.Ser1525Tyr)
c.1340C>A (p.Ser447Tyr)
c.1202C>A (p.Ser401Tyr)
c.3764C>A (p.Ser1255Tyr)
c.4529C>A (p.Ser1510Tyr)
c.4718C>A (p.Ser1573Tyr)
c.4511C>A (p.Ser1504Tyr)
c.1214C>A (p.Ser405Tyr)
c.1259C>A (p.Ser420Tyr)
c.4715C>A (p.Ser1572Tyr)
c.1039C>A
c.1226C>A (p.Ser409Tyr)
c.*4435C>A (n.*4435C>A)
c.965C>A (p.Ser322Tyr)
c.5-10403C>A (n.5-10403C>A)
c.125C>A (p.Ser42Tyr)
c.-98-24164C>A (n.-98-24164C>A)
n.4788C>A
n.4829C>A
 dbSNP
17g.43074355A>CCA10592210BRCA1c.4648T>G (p.Ser1550Ala)
c.4651T>G (p.Ser1551Ala)
c.4525T>G (p.Ser1509Ala)
c.4645T>G (p.Ser1549Ala)
c.4573T>G (p.Ser1525Ala)
c.1339T>G (p.Ser447Ala)
c.1201T>G (p.Ser401Ala)
c.3763T>G (p.Ser1255Ala)
c.4528T>G (p.Ser1510Ala)
c.4717T>G (p.Ser1573Ala)
c.4510T>G (p.Ser1504Ala)
c.1213T>G (p.Ser405Ala)
c.1258T>G (p.Ser420Ala)
c.4714T>G (p.Ser1572Ala)
c.1038T>G
c.1225T>G (p.Ser409Ala)
c.*4434T>G (n.*4434T>G)
c.964T>G (p.Ser322Ala)
c.5-10404T>G (n.5-10404T>G)
c.124T>G (p.Ser42Ala)
c.-98-24165T>G (n.-98-24165T>G)
n.4787T>G
n.4828T>G
17g.43074355A>GCA10592211BRCA1c.4648T>C (p.Ser1550Pro)
c.4651T>C (p.Ser1551Pro)
c.4525T>C (p.Ser1509Pro)
c.4645T>C (p.Ser1549Pro)
c.4573T>C (p.Ser1525Pro)
c.1339T>C (p.Ser447Pro)
c.1201T>C (p.Ser401Pro)
c.3763T>C (p.Ser1255Pro)
c.4528T>C (p.Ser1510Pro)
c.4717T>C (p.Ser1573Pro)
c.4510T>C (p.Ser1504Pro)
c.1213T>C (p.Ser405Pro)
c.1258T>C (p.Ser420Pro)
c.4714T>C (p.Ser1572Pro)
c.1038T>C
c.1225T>C (p.Ser409Pro)
c.*4434T>C (n.*4434T>C)
c.964T>C (p.Ser322Pro)
c.5-10404T>C (n.5-10404T>C)
c.124T>C (p.Ser42Pro)
c.-98-24165T>C (n.-98-24165T>C)
n.4787T>C
n.4828T>C
 gnomAD v4
17g.43074355A>TCA10592212BRCA1c.4648T>A (p.Ser1550Thr)
c.4651T>A (p.Ser1551Thr)
c.4525T>A (p.Ser1509Thr)
c.4645T>A (p.Ser1549Thr)
c.4573T>A (p.Ser1525Thr)
c.1339T>A (p.Ser447Thr)
c.1201T>A (p.Ser401Thr)
c.3763T>A (p.Ser1255Thr)
c.4528T>A (p.Ser1510Thr)
c.4717T>A (p.Ser1573Thr)
c.4510T>A (p.Ser1504Thr)
c.1213T>A (p.Ser405Thr)
c.1258T>A (p.Ser420Thr)
c.4714T>A (p.Ser1572Thr)
c.1038T>A
c.1225T>A (p.Ser409Thr)
c.*4434T>A (n.*4434T>A)
c.964T>A (p.Ser322Thr)
c.5-10404T>A (n.5-10404T>A)
c.124T>A (p.Ser42Thr)
c.-98-24165T>A (n.-98-24165T>A)
n.4787T>A
n.4828T>A
 COSMIC COSMIC
17g.43074355_43074363delinsATGTTTCCGCA2260774443BRCA1c.4640_4648delinsCGGAAACAT (p.Thr1547=)
c.4643_4651delinsCGGAAACAT (p.Thr1548=)
c.4517_4525delinsCGGAAACAT (p.Thr1506=)
c.4637_4645delinsCGGAAACAT (p.Thr1546=)
c.4565_4573delinsCGGAAACAT (p.Thr1522=)
c.1331_1339delinsCGGAAACAT (p.Thr444=)
c.1193_1201delinsCGGAAACAT (p.Thr398=)
c.3755_3763delinsCGGAAACAT (p.Thr1252=)
c.4520_4528delinsCGGAAACAT (p.Thr1507=)
c.4709_4717delinsCGGAAACAT (p.Thr1570=)
c.4502_4510delinsCGGAAACAT (p.Thr1501=)
c.1205_1213delinsCGGAAACAT (p.Thr402=)
c.1250_1258delinsCGGAAACAT (p.Thr417=)
c.4706_4714delinsCGGAAACAT (p.Thr1569=)
c.1030_1038delinsCGGAAACAT
c.1217_1225delinsCGGAAACAT (p.Thr406=)
c.*4426_*4434delinsCGGAAACAT (n.*4426_*4434delinsCGGAAACAT)
c.956_964delinsCGGAAACAT (p.Thr319=)
c.5-10412_5-10404delinsCGGAAACAT (n.5-10412_5-10404delinsCGGAAACAT)
c.116_124delinsCGGAAACAT (p.Thr39=)
c.-98-24173_-98-24165delinsCGGAAACAT (n.-98-24173_-98-24165delinsCGGAAACAT)
n.4779_4787delinsCGGAAACAT
n.4820_4828delinsCGGAAACAT
17g.43074356delCA2695225911BRCA1c.4647del (p.Ser1550LeufsTer8)
c.4650del (p.Ser1551LeufsTer8)
c.4524del (p.Ser1509LeufsTer8)
c.4644del (p.Ser1549LeufsTer8)
c.4572del (p.Ser1525LeufsTer8)
c.1338del (p.Ser447LeufsTer8)
c.1200del (p.Ser401LeufsTer8)
c.3762del (p.Ser1255LeufsTer8)
c.4527del (p.Ser1510LeufsTer8)
c.4716del (p.Ser1573LeufsTer8)
c.4509del (p.Ser1504LeufsTer8)
c.1212del (p.Ser405LeufsTer8)
c.1257del (p.Ser420LeufsTer8)
c.4713del (p.Ser1572LeufsTer8)
c.1037del
c.1224del (p.Ser409LeufsTer8)
c.*4433del (n.*4433del)
c.963del (p.Ser322LeufsTer8)
c.5-10405del (n.5-10405del)
c.123del (p.Ser42LeufsTer8)
c.-98-24166del (n.-98-24166del)
n.4786del
n.4827del
 ClinVar
17g.43074356T>ACA500146509BRCA1c.4647A>T (p.Thr1549=)
c.4650A>T (p.Thr1550=)
c.4524A>T (p.Thr1508=)
c.4644A>T (p.Thr1548=)
c.4572A>T (p.Thr1524=)
c.1338A>T (p.Thr446=)
c.1200A>T (p.Thr400=)
c.3762A>T (p.Thr1254=)
c.4527A>T (p.Thr1509=)
c.4716A>T (p.Thr1572=)
c.4509A>T (p.Thr1503=)
c.1212A>T (p.Thr404=)
c.1257A>T (p.Thr419=)
c.4713A>T (p.Thr1571=)
c.1037A>T
c.1224A>T (p.Thr408=)
c.*4433A>T (n.*4433A>T)
c.963A>T (p.Thr321=)
c.5-10405A>T (n.5-10405A>T)
c.123A>T (p.Thr41=)
c.-98-24166A>T (n.-98-24166A>T)
n.4786A>T
n.4827A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43074356T>CCA10580513BRCA1c.4647A>G (p.Thr1549=)
c.4650A>G (p.Thr1550=)
c.4524A>G (p.Thr1508=)
c.4644A>G (p.Thr1548=)
c.4572A>G (p.Thr1524=)
c.1338A>G (p.Thr446=)
c.1200A>G (p.Thr400=)
c.3762A>G (p.Thr1254=)
c.4527A>G (p.Thr1509=)
c.4716A>G (p.Thr1572=)
c.4509A>G (p.Thr1503=)
c.1212A>G (p.Thr404=)
c.1257A>G (p.Thr419=)
c.4713A>G (p.Thr1571=)
c.1037A>G
c.1224A>G (p.Thr408=)
c.*4433A>G (n.*4433A>G)
c.963A>G (p.Thr321=)
c.5-10405A>G (n.5-10405A>G)
c.123A>G (p.Thr41=)
c.-98-24166A>G (n.-98-24166A>G)
n.4786A>G
n.4827A>G
 ClinVar dbSNP
17g.43074356T>GCA500146511BRCA1c.4647A>C (p.Thr1549=)
c.4650A>C (p.Thr1550=)
c.4524A>C (p.Thr1508=)
c.4644A>C (p.Thr1548=)
c.4572A>C (p.Thr1524=)
c.1338A>C (p.Thr446=)
c.1200A>C (p.Thr400=)
c.3762A>C (p.Thr1254=)
c.4527A>C (p.Thr1509=)
c.4716A>C (p.Thr1572=)
c.4509A>C (p.Thr1503=)
c.1212A>C (p.Thr404=)
c.1257A>C (p.Thr419=)
c.4713A>C (p.Thr1571=)
c.1037A>C
c.1224A>C (p.Thr408=)
c.*4433A>C (n.*4433A>C)
c.963A>C (p.Thr321=)
c.5-10405A>C (n.5-10405A>C)
c.123A>C (p.Thr41=)
c.-98-24166A>C (n.-98-24166A>C)
n.4786A>C
n.4827A>C
17g.43074356T=CA2260774444BRCA1c.4647A= (p.Thr1549=)
c.4650A= (p.Thr1550=)
c.4524A= (p.Thr1508=)
c.4644A= (p.Thr1548=)
c.4572A= (p.Thr1524=)
c.1338A= (p.Thr446=)
c.1200A= (p.Thr400=)
c.3762A= (p.Thr1254=)
c.4527A= (p.Thr1509=)
c.4716A= (p.Thr1572=)
c.4509A= (p.Thr1503=)
c.1212A= (p.Thr404=)
c.1257A= (p.Thr419=)
c.4713A= (p.Thr1571=)
c.1037A=
c.1224A= (p.Thr408=)
c.*4433A= (n.*4433A=)
c.963A= (p.Thr321=)
c.5-10405A= (n.5-10405A=)
c.123A= (p.Thr41=)
c.-98-24166A= (n.-98-24166A=)
n.4786A=
n.4827A=
17g.43074357_43074364delCA919844244BRCA1c.4640_4647del (p.Thr1547IlefsTer23)
c.4643_4650del (p.Thr1548IlefsTer23)
c.4517_4524del (p.Thr1506IlefsTer23)
c.4637_4644del (p.Thr1546IlefsTer23)
c.4565_4572del (p.Thr1522IlefsTer23)
c.1331_1338del (p.Thr444IlefsTer23)
c.1193_1200del (p.Thr398IlefsTer23)
c.3755_3762del (p.Thr1252IlefsTer23)
c.4520_4527del (p.Thr1507IlefsTer23)
c.4709_4716del (p.Thr1570IlefsTer23)
c.4502_4509del (p.Thr1501IlefsTer23)
c.1205_1212del (p.Thr402IlefsTer23)
c.1250_1257del (p.Thr417IlefsTer23)
c.4706_4713del (p.Thr1569IlefsTer23)
c.1030_1037del
c.1217_1224del (p.Thr406IlefsTer23)
c.*4426_*4433del (n.*4426_*4433del)
c.956_963del (p.Thr319IlefsTer23)
c.5-10412_5-10405del (n.5-10412_5-10405del)
c.116_123del (p.Thr39IlefsTer23)
c.-98-24173_-98-24166del (n.-98-24173_-98-24166del)
n.4779_4786del
n.4820_4827del
 dbSNP
17g.43074357G>ACA002947BRCA1c.4646C>T (p.Thr1549Ile)
c.4649C>T (p.Thr1550Ile)
c.4523C>T (p.Thr1508Ile)
c.4643C>T (p.Thr1548Ile)
c.4571C>T (p.Thr1524Ile)
c.1337C>T (p.Thr446Ile)
c.1199C>T (p.Thr400Ile)
c.3761C>T (p.Thr1254Ile)
c.4526C>T (p.Thr1509Ile)
c.4715C>T (p.Thr1572Ile)
c.4508C>T (p.Thr1503Ile)
c.1211C>T (p.Thr404Ile)
c.1256C>T (p.Thr419Ile)
c.4712C>T (p.Thr1571Ile)
c.1036C>T
c.1223C>T (p.Thr408Ile)
c.*4432C>T (n.*4432C>T)
c.962C>T (p.Thr321Ile)
c.5-10406C>T (n.5-10406C>T)
c.122C>T (p.Thr41Ile)
c.-98-24167C>T (n.-98-24167C>T)
n.4785C>T
n.4826C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43074357G>CCA10592213BRCA1c.4646C>G (p.Thr1549Arg)
c.4649C>G (p.Thr1550Arg)
c.4523C>G (p.Thr1508Arg)
c.4643C>G (p.Thr1548Arg)
c.4571C>G (p.Thr1524Arg)
c.1337C>G (p.Thr446Arg)
c.1199C>G (p.Thr400Arg)
c.3761C>G (p.Thr1254Arg)
c.4526C>G (p.Thr1509Arg)
c.4715C>G (p.Thr1572Arg)
c.4508C>G (p.Thr1503Arg)
c.1211C>G (p.Thr404Arg)
c.1256C>G (p.Thr419Arg)
c.4712C>G (p.Thr1571Arg)
c.1036C>G
c.1223C>G (p.Thr408Arg)
c.*4432C>G (n.*4432C>G)
c.962C>G (p.Thr321Arg)
c.5-10406C>G (n.5-10406C>G)
c.122C>G (p.Thr41Arg)
c.-98-24167C>G (n.-98-24167C>G)
n.4785C>G
n.4826C>G
 dbSNP
17g.43074357G=CA2260774445BRCA1c.4646C= (p.Thr1549=)
c.4649C= (p.Thr1550=)
c.4523C= (p.Thr1508=)
c.4643C= (p.Thr1548=)
c.4571C= (p.Thr1524=)
c.1337C= (p.Thr446=)
c.1199C= (p.Thr400=)
c.3761C= (p.Thr1254=)
c.4526C= (p.Thr1509=)
c.4715C= (p.Thr1572=)
c.4508C= (p.Thr1503=)
c.1211C= (p.Thr404=)
c.1256C= (p.Thr419=)
c.4712C= (p.Thr1571=)
c.1036C=
c.1223C= (p.Thr408=)
c.*4432C= (n.*4432C=)
c.962C= (p.Thr321=)
c.5-10406C= (n.5-10406C=)
c.122C= (p.Thr41=)
c.-98-24167C= (n.-98-24167C=)
n.4785C=
n.4826C=
17g.43074357G>TCA10592214BRCA1c.4646C>A (p.Thr1549Lys)
c.4649C>A (p.Thr1550Lys)
c.4523C>A (p.Thr1508Lys)
c.4643C>A (p.Thr1548Lys)
c.4571C>A (p.Thr1524Lys)
c.1337C>A (p.Thr446Lys)
c.1199C>A (p.Thr400Lys)
c.3761C>A (p.Thr1254Lys)
c.4526C>A (p.Thr1509Lys)
c.4715C>A (p.Thr1572Lys)
c.4508C>A (p.Thr1503Lys)
c.1211C>A (p.Thr404Lys)
c.1256C>A (p.Thr419Lys)
c.4712C>A (p.Thr1571Lys)
c.1036C>A
c.1223C>A (p.Thr408Lys)
c.*4432C>A (n.*4432C>A)
c.962C>A (p.Thr321Lys)
c.5-10406C>A (n.5-10406C>A)
c.122C>A (p.Thr41Lys)
c.-98-24167C>A (n.-98-24167C>A)
n.4785C>A
n.4826C>A
17g.43074358T>ACA10592215BRCA1c.4645A>T (p.Thr1549Ser)
c.4648A>T (p.Thr1550Ser)
c.4522A>T (p.Thr1508Ser)
c.4642A>T (p.Thr1548Ser)
c.4570A>T (p.Thr1524Ser)
c.1336A>T (p.Thr446Ser)
c.1198A>T (p.Thr400Ser)
c.3760A>T (p.Thr1254Ser)
c.4525A>T (p.Thr1509Ser)
c.4714A>T (p.Thr1572Ser)
c.4507A>T (p.Thr1503Ser)
c.1210A>T (p.Thr404Ser)
c.1255A>T (p.Thr419Ser)
c.4711A>T (p.Thr1571Ser)
c.1035A>T
c.1222A>T (p.Thr408Ser)
c.*4431A>T (n.*4431A>T)
c.961A>T (p.Thr321Ser)
c.5-10407A>T (n.5-10407A>T)
c.121A>T (p.Thr41Ser)
c.-98-24168A>T (n.-98-24168A>T)
n.4784A>T
n.4825A>T
 ClinVar dbSNP
17g.43074358T>CCA10592216BRCA1c.4645A>G (p.Thr1549Ala)
c.4648A>G (p.Thr1550Ala)
c.4522A>G (p.Thr1508Ala)
c.4642A>G (p.Thr1548Ala)
c.4570A>G (p.Thr1524Ala)
c.1336A>G (p.Thr446Ala)
c.1198A>G (p.Thr400Ala)
c.3760A>G (p.Thr1254Ala)
c.4525A>G (p.Thr1509Ala)
c.4714A>G (p.Thr1572Ala)
c.4507A>G (p.Thr1503Ala)
c.1210A>G (p.Thr404Ala)
c.1255A>G (p.Thr419Ala)
c.4711A>G (p.Thr1571Ala)
c.1035A>G
c.1222A>G (p.Thr408Ala)
c.*4431A>G (n.*4431A>G)
c.961A>G (p.Thr321Ala)
c.5-10407A>G (n.5-10407A>G)
c.121A>G (p.Thr41Ala)
c.-98-24168A>G (n.-98-24168A>G)
n.4784A>G
n.4825A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43074358T>GCA10592217BRCA1c.4645A>C (p.Thr1549Pro)
c.4648A>C (p.Thr1550Pro)
c.4522A>C (p.Thr1508Pro)
c.4642A>C (p.Thr1548Pro)
c.4570A>C (p.Thr1524Pro)
c.1336A>C (p.Thr446Pro)
c.1198A>C (p.Thr400Pro)
c.3760A>C (p.Thr1254Pro)
c.4525A>C (p.Thr1509Pro)
c.4714A>C (p.Thr1572Pro)
c.4507A>C (p.Thr1503Pro)
c.1210A>C (p.Thr404Pro)
c.1255A>C (p.Thr419Pro)
c.4711A>C (p.Thr1571Pro)
c.1035A>C
c.1222A>C (p.Thr408Pro)
c.*4431A>C (n.*4431A>C)
c.961A>C (p.Thr321Pro)
c.5-10407A>C (n.5-10407A>C)
c.121A>C (p.Thr41Pro)
c.-98-24168A>C (n.-98-24168A>C)
n.4784A>C
n.4825A>C
17g.43074358T=CA2260774446BRCA1c.4645A= (p.Thr1549=)
c.4648A= (p.Thr1550=)
c.4522A= (p.Thr1508=)
c.4642A= (p.Thr1548=)
c.4570A= (p.Thr1524=)
c.1336A= (p.Thr446=)
c.1198A= (p.Thr400=)
c.3760A= (p.Thr1254=)
c.4525A= (p.Thr1509=)
c.4714A= (p.Thr1572=)
c.4507A= (p.Thr1503=)
c.1210A= (p.Thr404=)
c.1255A= (p.Thr419=)
c.4711A= (p.Thr1571=)
c.1035A=
c.1222A= (p.Thr408=)
c.*4431A= (n.*4431A=)
c.961A= (p.Thr321=)
c.5-10407A= (n.5-10407A=)
c.121A= (p.Thr41=)
c.-98-24168A= (n.-98-24168A=)
n.4784A=
n.4825A=
17g.43074359_43074360dupCA354138BRCA1c.4644_4645dup (p.Thr1549LysfsTer10)
c.4647_4648dup (p.Thr1550LysfsTer10)
c.4521_4522dup (p.Thr1508LysfsTer10)
c.4641_4642dup (p.Thr1548LysfsTer10)
c.4569_4570dup (p.Thr1524LysfsTer10)
c.1335_1336dup (p.Thr446LysfsTer10)
c.1197_1198dup (p.Thr400LysfsTer10)
c.3759_3760dup (p.Thr1254LysfsTer10)
c.4524_4525dup (p.Thr1509LysfsTer10)
c.4713_4714dup (p.Thr1572LysfsTer10)
c.4506_4507dup (p.Thr1503LysfsTer10)
c.1209_1210dup (p.Thr404LysfsTer10)
c.1254_1255dup (p.Thr419LysfsTer10)
c.4710_4711dup (p.Thr1571LysfsTer10)
c.1034_1035dup
c.1221_1222dup (p.Thr408LysfsTer10)
c.*4430_*4431dup (n.*4430_*4431dup)
c.960_961dup (p.Thr321LysfsTer10)
c.5-10408_5-10407dup (n.5-10408_5-10407dup)
c.120_121dup (p.Thr41LysfsTer10)
c.-98-24169_-98-24168dup (n.-98-24169_-98-24168dup)
n.4783_4784dup
n.4824_4825dup
 ClinVar dbSNP
17g.43074359T>ACA10592218BRCA1c.4644A>T (p.Glu1548Asp)
c.4647A>T (p.Glu1549Asp)
c.4521A>T (p.Glu1507Asp)
c.4641A>T (p.Glu1547Asp)
c.4569A>T (p.Glu1523Asp)
c.1335A>T (p.Glu445Asp)
c.1197A>T (p.Glu399Asp)
c.3759A>T (p.Glu1253Asp)
c.4524A>T (p.Glu1508Asp)
c.4713A>T (p.Glu1571Asp)
c.4506A>T (p.Glu1502Asp)
c.1209A>T (p.Glu403Asp)
c.1254A>T (p.Glu418Asp)
c.4710A>T (p.Glu1570Asp)
c.1034A>T
c.1221A>T (p.Glu407Asp)
c.*4430A>T (n.*4430A>T)
c.960A>T (p.Glu320Asp)
c.5-10408A>T (n.5-10408A>T)
c.120A>T (p.Glu40Asp)
c.-98-24169A>T (n.-98-24169A>T)
n.4783A>T
n.4824A>T
17g.43074359T>CCA500146513BRCA1c.4644A>G (p.Glu1548=)
c.4647A>G (p.Glu1549=)
c.4521A>G (p.Glu1507=)
c.4641A>G (p.Glu1547=)
c.4569A>G (p.Glu1523=)
c.1335A>G (p.Glu445=)
c.1197A>G (p.Glu399=)
c.3759A>G (p.Glu1253=)
c.4524A>G (p.Glu1508=)
c.4713A>G (p.Glu1571=)
c.4506A>G (p.Glu1502=)
c.1209A>G (p.Glu403=)
c.1254A>G (p.Glu418=)
c.4710A>G (p.Glu1570=)
c.1034A>G
c.1221A>G (p.Glu407=)
c.*4430A>G (n.*4430A>G)
c.960A>G (p.Glu320=)
c.5-10408A>G (n.5-10408A>G)
c.120A>G (p.Glu40=)
c.-98-24169A>G (n.-98-24169A>G)
n.4783A>G
n.4824A>G
17g.43074359T>GCA10592219BRCA1c.4644A>C (p.Glu1548Asp)
c.4647A>C (p.Glu1549Asp)
c.4521A>C (p.Glu1507Asp)
c.4641A>C (p.Glu1547Asp)
c.4569A>C (p.Glu1523Asp)
c.1335A>C (p.Glu445Asp)
c.1197A>C (p.Glu399Asp)
c.3759A>C (p.Glu1253Asp)
c.4524A>C (p.Glu1508Asp)
c.4713A>C (p.Glu1571Asp)
c.4506A>C (p.Glu1502Asp)
c.1209A>C (p.Glu403Asp)
c.1254A>C (p.Glu418Asp)
c.4710A>C (p.Glu1570Asp)
c.1034A>C
c.1221A>C (p.Glu407Asp)
c.*4430A>C (n.*4430A>C)
c.960A>C (p.Glu320Asp)
c.5-10408A>C (n.5-10408A>C)
c.120A>C (p.Glu40Asp)
c.-98-24169A>C (n.-98-24169A>C)
n.4783A>C
n.4824A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43074359T=CA2260774447BRCA1c.4644A= (p.Glu1548=)
c.4647A= (p.Glu1549=)
c.4521A= (p.Glu1507=)
c.4641A= (p.Glu1547=)
c.4569A= (p.Glu1523=)
c.1335A= (p.Glu445=)
c.1197A= (p.Glu399=)
c.3759A= (p.Glu1253=)
c.4524A= (p.Glu1508=)
c.4713A= (p.Glu1571=)
c.4506A= (p.Glu1502=)
c.1209A= (p.Glu403=)
c.1254A= (p.Glu418=)
c.4710A= (p.Glu1570=)
c.1034A=
c.1221A= (p.Glu407=)
c.*4430A= (n.*4430A=)
c.960A= (p.Glu320=)
c.5-10408A= (n.5-10408A=)
c.120A= (p.Glu40=)
c.-98-24169A= (n.-98-24169A=)
n.4783A=
n.4824A=
17g.43074360T>ACA10580514BRCA1c.4643A>T (p.Glu1548Val)
c.4646A>T (p.Glu1549Val)
c.4520A>T (p.Glu1507Val)
c.4640A>T (p.Glu1547Val)
c.4568A>T (p.Glu1523Val)
c.1334A>T (p.Glu445Val)
c.1196A>T (p.Glu399Val)
c.3758A>T (p.Glu1253Val)
c.4523A>T (p.Glu1508Val)
c.4712A>T (p.Glu1571Val)
c.4505A>T (p.Glu1502Val)
c.1208A>T (p.Glu403Val)
c.1253A>T (p.Glu418Val)
c.4709A>T (p.Glu1570Val)
c.1033A>T
c.1220A>T (p.Glu407Val)
c.*4429A>T (n.*4429A>T)
c.959A>T (p.Glu320Val)
c.5-10409A>T (n.5-10409A>T)
c.119A>T (p.Glu40Val)
c.-98-24170A>T (n.-98-24170A>T)
n.4782A>T
n.4823A>T
 ClinVar dbSNP

Number of alleles fetched