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.43074333A=CA2260774420BRCA1c.4670T= (p.Leu1557=)
c.4673T= (p.Leu1558=)
c.4547T= (p.Leu1516=)
c.4667T= (p.Leu1556=)
c.4595T= (p.Leu1532=)
c.1361T= (p.Leu454=)
c.1223T= (p.Leu408=)
c.3785T= (p.Leu1262=)
c.4550T= (p.Leu1517=)
c.4739T= (p.Leu1580=)
c.4532T= (p.Leu1511=)
c.1235T= (p.Leu412=)
c.1280T= (p.Leu427=)
c.4736T= (p.Leu1579=)
c.1060T=
c.1247T= (p.Leu416=)
c.*4456T= (n.*4456T=)
c.986T= (p.Leu329=)
c.5-10382T= (n.5-10382T=)
c.146T= (p.Leu49=)
c.-98-24143T= (n.-98-24143T=)
n.4809T=
n.4850T=
17g.43074333A>CCA10592163BRCA1c.4670T>G (p.Leu1557Arg)
c.4673T>G (p.Leu1558Arg)
c.4547T>G (p.Leu1516Arg)
c.4667T>G (p.Leu1556Arg)
c.4595T>G (p.Leu1532Arg)
c.1361T>G (p.Leu454Arg)
c.1223T>G (p.Leu408Arg)
c.3785T>G (p.Leu1262Arg)
c.4550T>G (p.Leu1517Arg)
c.4739T>G (p.Leu1580Arg)
c.4532T>G (p.Leu1511Arg)
c.1235T>G (p.Leu412Arg)
c.1280T>G (p.Leu427Arg)
c.4736T>G (p.Leu1579Arg)
c.1060T>G
c.1247T>G (p.Leu416Arg)
c.*4456T>G (n.*4456T>G)
c.986T>G (p.Leu329Arg)
c.5-10382T>G (n.5-10382T>G)
c.146T>G (p.Leu49Arg)
c.-98-24143T>G (n.-98-24143T>G)
n.4809T>G
n.4850T>G
 ClinVar dbSNP gnomAD v4
17g.43074333A>GCA10592164BRCA1c.4670T>C (p.Leu1557Pro)
c.4673T>C (p.Leu1558Pro)
c.4547T>C (p.Leu1516Pro)
c.4667T>C (p.Leu1556Pro)
c.4595T>C (p.Leu1532Pro)
c.1361T>C (p.Leu454Pro)
c.1223T>C (p.Leu408Pro)
c.3785T>C (p.Leu1262Pro)
c.4550T>C (p.Leu1517Pro)
c.4739T>C (p.Leu1580Pro)
c.4532T>C (p.Leu1511Pro)
c.1235T>C (p.Leu412Pro)
c.1280T>C (p.Leu427Pro)
c.4736T>C (p.Leu1579Pro)
c.1060T>C
c.1247T>C (p.Leu416Pro)
c.*4456T>C (n.*4456T>C)
c.986T>C (p.Leu329Pro)
c.5-10382T>C (n.5-10382T>C)
c.146T>C (p.Leu49Pro)
c.-98-24143T>C (n.-98-24143T>C)
n.4809T>C
n.4850T>C
17g.43074333A>TCA10592165BRCA1c.4670T>A (p.Leu1557Gln)
c.4673T>A (p.Leu1558Gln)
c.4547T>A (p.Leu1516Gln)
c.4667T>A (p.Leu1556Gln)
c.4595T>A (p.Leu1532Gln)
c.1361T>A (p.Leu454Gln)
c.1223T>A (p.Leu408Gln)
c.3785T>A (p.Leu1262Gln)
c.4550T>A (p.Leu1517Gln)
c.4739T>A (p.Leu1580Gln)
c.4532T>A (p.Leu1511Gln)
c.1235T>A (p.Leu412Gln)
c.1280T>A (p.Leu427Gln)
c.4736T>A (p.Leu1579Gln)
c.1060T>A
c.1247T>A (p.Leu416Gln)
c.*4456T>A (n.*4456T>A)
c.986T>A (p.Leu329Gln)
c.5-10382T>A (n.5-10382T>A)
c.146T>A (p.Leu49Gln)
c.-98-24143T>A (n.-98-24143T>A)
n.4809T>A
n.4850T>A
 dbSNP
17g.43074333_43074334delinsAGCA2260774419BRCA1c.4669_4670delinsCT (p.Leu1557=)
c.4672_4673delinsCT (p.Leu1558=)
c.4546_4547delinsCT (p.Leu1516=)
c.4666_4667delinsCT (p.Leu1556=)
c.4594_4595delinsCT (p.Leu1532=)
c.1360_1361delinsCT (p.Leu454=)
c.1222_1223delinsCT (p.Leu408=)
c.3784_3785delinsCT (p.Leu1262=)
c.4549_4550delinsCT (p.Leu1517=)
c.4738_4739delinsCT (p.Leu1580=)
c.4531_4532delinsCT (p.Leu1511=)
c.1234_1235delinsCT (p.Leu412=)
c.1279_1280delinsCT (p.Leu427=)
c.4735_4736delinsCT (p.Leu1579=)
c.1059_1060delinsCT
c.1246_1247delinsCT (p.Leu416=)
c.*4455_*4456delinsCT (n.*4455_*4456delinsCT)
c.985_986delinsCT (p.Leu329=)
c.5-10383_5-10382delinsCT (n.5-10383_5-10382delinsCT)
c.145_146delinsCT (p.Leu49=)
c.-98-24144_-98-24143delinsCT (n.-98-24144_-98-24143delinsCT)
n.4808_4809delinsCT
n.4849_4850delinsCT
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.43074334delCA915950119BRCA1c.4669del (p.Leu1557Ter)
c.4672del (p.Leu1558Ter)
c.4546del (p.Leu1516Ter)
c.4666del (p.Leu1556Ter)
c.4594del (p.Leu1532Ter)
c.1360del (p.Leu454Ter)
c.1222del (p.Leu408Ter)
c.3784del (p.Leu1262Ter)
c.4549del (p.Leu1517Ter)
c.4738del (p.Leu1580Ter)
c.4531del (p.Leu1511Ter)
c.1234del (p.Leu412Ter)
c.1279del (p.Leu427Ter)
c.4735del (p.Leu1579Ter)
c.1059del
c.1246del (p.Leu416Ter)
c.*4455del (n.*4455del)
c.985del (p.Leu329Ter)
c.5-10383del (n.5-10383del)
c.145del (p.Leu49Ter)
c.-98-24144del (n.-98-24144del)
n.4808del
n.4849del
 ClinVar dbSNP
17g.43074334G>ACA500146490BRCA1c.4669C>T (p.Leu1557=)
c.4672C>T (p.Leu1558=)
c.4546C>T (p.Leu1516=)
c.4666C>T (p.Leu1556=)
c.4594C>T (p.Leu1532=)
c.1360C>T (p.Leu454=)
c.1222C>T (p.Leu408=)
c.3784C>T (p.Leu1262=)
c.4549C>T (p.Leu1517=)
c.4738C>T (p.Leu1580=)
c.4531C>T (p.Leu1511=)
c.1234C>T (p.Leu412=)
c.1279C>T (p.Leu427=)
c.4735C>T (p.Leu1579=)
c.1059C>T
c.1246C>T (p.Leu416=)
c.*4455C>T (n.*4455C>T)
c.985C>T (p.Leu329=)
c.5-10383C>T (n.5-10383C>T)
c.145C>T (p.Leu49=)
c.-98-24144C>T (n.-98-24144C>T)
n.4808C>T
n.4849C>T
 ClinVar
17g.43074334G>CCA10592166BRCA1c.4669C>G (p.Leu1557Val)
c.4672C>G (p.Leu1558Val)
c.4546C>G (p.Leu1516Val)
c.4666C>G (p.Leu1556Val)
c.4594C>G (p.Leu1532Val)
c.1360C>G (p.Leu454Val)
c.1222C>G (p.Leu408Val)
c.3784C>G (p.Leu1262Val)
c.4549C>G (p.Leu1517Val)
c.4738C>G (p.Leu1580Val)
c.4531C>G (p.Leu1511Val)
c.1234C>G (p.Leu412Val)
c.1279C>G (p.Leu427Val)
c.4735C>G (p.Leu1579Val)
c.1059C>G
c.1246C>G (p.Leu416Val)
c.*4455C>G (n.*4455C>G)
c.985C>G (p.Leu329Val)
c.5-10383C>G (n.5-10383C>G)
c.145C>G (p.Leu49Val)
c.-98-24144C>G (n.-98-24144C>G)
n.4808C>G
n.4849C>G
 ClinVar dbSNP
17g.43074334G=CA2260774421BRCA1c.4669C= (p.Leu1557=)
c.4672C= (p.Leu1558=)
c.4546C= (p.Leu1516=)
c.4666C= (p.Leu1556=)
c.4594C= (p.Leu1532=)
c.1360C= (p.Leu454=)
c.1222C= (p.Leu408=)
c.3784C= (p.Leu1262=)
c.4549C= (p.Leu1517=)
c.4738C= (p.Leu1580=)
c.4531C= (p.Leu1511=)
c.1234C= (p.Leu412=)
c.1279C= (p.Leu427=)
c.4735C= (p.Leu1579=)
c.1059C=
c.1246C= (p.Leu416=)
c.*4455C= (n.*4455C=)
c.985C= (p.Leu329=)
c.5-10383C= (n.5-10383C=)
c.145C= (p.Leu49=)
c.-98-24144C= (n.-98-24144C=)
n.4808C=
n.4849C=
17g.43074334G>TCA10592167BRCA1c.4669C>A (p.Leu1557Ile)
c.4672C>A (p.Leu1558Ile)
c.4546C>A (p.Leu1516Ile)
c.4666C>A (p.Leu1556Ile)
c.4594C>A (p.Leu1532Ile)
c.1360C>A (p.Leu454Ile)
c.1222C>A (p.Leu408Ile)
c.3784C>A (p.Leu1262Ile)
c.4549C>A (p.Leu1517Ile)
c.4738C>A (p.Leu1580Ile)
c.4531C>A (p.Leu1511Ile)
c.1234C>A (p.Leu412Ile)
c.1279C>A (p.Leu427Ile)
c.4735C>A (p.Leu1579Ile)
c.1059C>A
c.1246C>A (p.Leu416Ile)
c.*4455C>A (n.*4455C>A)
c.985C>A (p.Leu329Ile)
c.5-10383C>A (n.5-10383C>A)
c.145C>A (p.Leu49Ile)
c.-98-24144C>A (n.-98-24144C>A)
n.4808C>A
n.4849C>A
17g.43074335A=CA2260774422BRCA1c.4668T= (p.Asp1556=)
c.4671T= (p.Asp1557=)
c.4545T= (p.Asp1515=)
c.4665T= (p.Asp1555=)
c.4593T= (p.Asp1531=)
c.1359T= (p.Asp453=)
c.1221T= (p.Asp407=)
c.3783T= (p.Asp1261=)
c.4548T= (p.Asp1516=)
c.4737T= (p.Asp1579=)
c.4530T= (p.Asp1510=)
c.1233T= (p.Asp411=)
c.1278T= (p.Asp426=)
c.4734T= (p.Asp1578=)
c.1058T=
c.1245T= (p.Asp415=)
c.*4454T= (n.*4454T=)
c.984T= (p.Asp328=)
c.5-10384T= (n.5-10384T=)
c.144T= (p.Asp48=)
c.-98-24145T= (n.-98-24145T=)
n.4807T=
n.4848T=
17g.43074335A>CCA10592168BRCA1c.4668T>G (p.Asp1556Glu)
c.4671T>G (p.Asp1557Glu)
c.4545T>G (p.Asp1515Glu)
c.4665T>G (p.Asp1555Glu)
c.4593T>G (p.Asp1531Glu)
c.1359T>G (p.Asp453Glu)
c.1221T>G (p.Asp407Glu)
c.3783T>G (p.Asp1261Glu)
c.4548T>G (p.Asp1516Glu)
c.4737T>G (p.Asp1579Glu)
c.4530T>G (p.Asp1510Glu)
c.1233T>G (p.Asp411Glu)
c.1278T>G (p.Asp426Glu)
c.4734T>G (p.Asp1578Glu)
c.1058T>G
c.1245T>G (p.Asp415Glu)
c.*4454T>G (n.*4454T>G)
c.984T>G (p.Asp328Glu)
c.5-10384T>G (n.5-10384T>G)
c.144T>G (p.Asp48Glu)
c.-98-24145T>G (n.-98-24145T>G)
n.4807T>G
n.4848T>G
 ClinVar dbSNP gnomAD v4
17g.43074335A>GCA500146491BRCA1c.4668T>C (p.Asp1556=)
c.4671T>C (p.Asp1557=)
c.4545T>C (p.Asp1515=)
c.4665T>C (p.Asp1555=)
c.4593T>C (p.Asp1531=)
c.1359T>C (p.Asp453=)
c.1221T>C (p.Asp407=)
c.3783T>C (p.Asp1261=)
c.4548T>C (p.Asp1516=)
c.4737T>C (p.Asp1579=)
c.4530T>C (p.Asp1510=)
c.1233T>C (p.Asp411=)
c.1278T>C (p.Asp426=)
c.4734T>C (p.Asp1578=)
c.1058T>C
c.1245T>C (p.Asp415=)
c.*4454T>C (n.*4454T>C)
c.984T>C (p.Asp328=)
c.5-10384T>C (n.5-10384T>C)
c.144T>C (p.Asp48=)
c.-98-24145T>C (n.-98-24145T>C)
n.4807T>C
n.4848T>C
 ClinVar dbSNP
17g.43074335A>TCA10592169BRCA1c.4668T>A (p.Asp1556Glu)
c.4671T>A (p.Asp1557Glu)
c.4545T>A (p.Asp1515Glu)
c.4665T>A (p.Asp1555Glu)
c.4593T>A (p.Asp1531Glu)
c.1359T>A (p.Asp453Glu)
c.1221T>A (p.Asp407Glu)
c.3783T>A (p.Asp1261Glu)
c.4548T>A (p.Asp1516Glu)
c.4737T>A (p.Asp1579Glu)
c.4530T>A (p.Asp1510Glu)
c.1233T>A (p.Asp411Glu)
c.1278T>A (p.Asp426Glu)
c.4734T>A (p.Asp1578Glu)
c.1058T>A
c.1245T>A (p.Asp415Glu)
c.*4454T>A (n.*4454T>A)
c.984T>A (p.Asp328Glu)
c.5-10384T>A (n.5-10384T>A)
c.144T>A (p.Asp48Glu)
c.-98-24145T>A (n.-98-24145T>A)
n.4807T>A
n.4848T>A
17g.43074336_43074348delCA2580094217BRCA1c.4656_4668del (p.Leu1552PhefsTer2)
c.4659_4671del (p.Leu1553PhefsTer2)
c.4533_4545del (p.Leu1511PhefsTer2)
c.4653_4665del (p.Leu1551PhefsTer2)
c.4581_4593del (p.Leu1527PhefsTer2)
c.1347_1359del (p.Leu449PhefsTer2)
c.1209_1221del (p.Leu403PhefsTer2)
c.3771_3783del (p.Leu1257PhefsTer2)
c.4536_4548del (p.Leu1512PhefsTer2)
c.4725_4737del (p.Leu1575PhefsTer2)
c.4518_4530del (p.Leu1506PhefsTer2)
c.1221_1233del (p.Leu407PhefsTer2)
c.1266_1278del (p.Leu422PhefsTer2)
c.4722_4734del (p.Leu1574PhefsTer2)
c.1046_1058del
c.1233_1245del (p.Leu411PhefsTer2)
c.*4442_*4454del (n.*4442_*4454del)
c.972_984del (p.Leu324PhefsTer2)
c.5-10396_5-10384del (n.5-10396_5-10384del)
c.132_144del (p.Leu44PhefsTer2)
c.-98-24157_-98-24145del (n.-98-24157_-98-24145del)
n.4795_4807del
n.4836_4848del
 ClinVar
17g.43074336T>ACA10592170BRCA1c.4667A>T (p.Asp1556Val)
c.4670A>T (p.Asp1557Val)
c.4544A>T (p.Asp1515Val)
c.4664A>T (p.Asp1555Val)
c.4592A>T (p.Asp1531Val)
c.1358A>T (p.Asp453Val)
c.1220A>T (p.Asp407Val)
c.3782A>T (p.Asp1261Val)
c.4547A>T (p.Asp1516Val)
c.4736A>T (p.Asp1579Val)
c.4529A>T (p.Asp1510Val)
c.1232A>T (p.Asp411Val)
c.1277A>T (p.Asp426Val)
c.4733A>T (p.Asp1578Val)
c.1057A>T
c.1244A>T (p.Asp415Val)
c.*4453A>T (n.*4453A>T)
c.983A>T (p.Asp328Val)
c.5-10385A>T (n.5-10385A>T)
c.143A>T (p.Asp48Val)
c.-98-24146A>T (n.-98-24146A>T)
n.4806A>T
n.4847A>T
 dbSNP
17g.43074336T>CCA10576082BRCA1c.4667A>G (p.Asp1556Gly)
c.4670A>G (p.Asp1557Gly)
c.4544A>G (p.Asp1515Gly)
c.4664A>G (p.Asp1555Gly)
c.4592A>G (p.Asp1531Gly)
c.1358A>G (p.Asp453Gly)
c.1220A>G (p.Asp407Gly)
c.3782A>G (p.Asp1261Gly)
c.4547A>G (p.Asp1516Gly)
c.4736A>G (p.Asp1579Gly)
c.4529A>G (p.Asp1510Gly)
c.1232A>G (p.Asp411Gly)
c.1277A>G (p.Asp426Gly)
c.4733A>G (p.Asp1578Gly)
c.1057A>G
c.1244A>G (p.Asp415Gly)
c.*4453A>G (n.*4453A>G)
c.983A>G (p.Asp328Gly)
c.5-10385A>G (n.5-10385A>G)
c.143A>G (p.Asp48Gly)
c.-98-24146A>G (n.-98-24146A>G)
n.4806A>G
n.4847A>G
 ClinVar dbSNP
17g.43074336T>GCA10592171BRCA1c.4667A>C (p.Asp1556Ala)
c.4670A>C (p.Asp1557Ala)
c.4544A>C (p.Asp1515Ala)
c.4664A>C (p.Asp1555Ala)
c.4592A>C (p.Asp1531Ala)
c.1358A>C (p.Asp453Ala)
c.1220A>C (p.Asp407Ala)
c.3782A>C (p.Asp1261Ala)
c.4547A>C (p.Asp1516Ala)
c.4736A>C (p.Asp1579Ala)
c.4529A>C (p.Asp1510Ala)
c.1232A>C (p.Asp411Ala)
c.1277A>C (p.Asp426Ala)
c.4733A>C (p.Asp1578Ala)
c.1057A>C
c.1244A>C (p.Asp415Ala)
c.*4453A>C (n.*4453A>C)
c.983A>C (p.Asp328Ala)
c.5-10385A>C (n.5-10385A>C)
c.143A>C (p.Asp48Ala)
c.-98-24146A>C (n.-98-24146A>C)
n.4806A>C
n.4847A>C
17g.43074336T=CA2260774423BRCA1c.4667A= (p.Asp1556=)
c.4670A= (p.Asp1557=)
c.4544A= (p.Asp1515=)
c.4664A= (p.Asp1555=)
c.4592A= (p.Asp1531=)
c.1358A= (p.Asp453=)
c.1220A= (p.Asp407=)
c.3782A= (p.Asp1261=)
c.4547A= (p.Asp1516=)
c.4736A= (p.Asp1579=)
c.4529A= (p.Asp1510=)
c.1232A= (p.Asp411=)
c.1277A= (p.Asp426=)
c.4733A= (p.Asp1578=)
c.1057A=
c.1244A= (p.Asp415=)
c.*4453A= (n.*4453A=)
c.983A= (p.Asp328=)
c.5-10385A= (n.5-10385A=)
c.143A= (p.Asp48=)
c.-98-24146A= (n.-98-24146A=)
n.4806A=
n.4847A=
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.43074337delCA2573154044BRCA1c.4666del (p.Asp1556IlefsTer2)
c.4669del (p.Asp1557IlefsTer2)
c.4543del (p.Asp1515IlefsTer2)
c.4663del (p.Asp1555IlefsTer2)
c.4591del (p.Asp1531IlefsTer2)
c.1357del (p.Asp453IlefsTer2)
c.1219del (p.Asp407IlefsTer2)
c.3781del (p.Asp1261IlefsTer2)
c.4546del (p.Asp1516IlefsTer2)
c.4735del (p.Asp1579IlefsTer2)
c.4528del (p.Asp1510IlefsTer2)
c.1231del (p.Asp411IlefsTer2)
c.1276del (p.Asp426IlefsTer2)
c.4732del (p.Asp1578IlefsTer2)
c.1056del
c.1243del (p.Asp415IlefsTer2)
c.*4452del (n.*4452del)
c.982del (p.Asp328IlefsTer2)
c.5-10386del (n.5-10386del)
c.142del (p.Asp48IlefsTer2)
c.-98-24147del (n.-98-24147del)
n.4805del
n.4846del
 ClinVar dbSNP
17g.43074337C>ACA10592172BRCA1c.4666G>T (p.Asp1556Tyr)
c.4669G>T (p.Asp1557Tyr)
c.4543G>T (p.Asp1515Tyr)
c.4663G>T (p.Asp1555Tyr)
c.4591G>T (p.Asp1531Tyr)
c.1357G>T (p.Asp453Tyr)
c.1219G>T (p.Asp407Tyr)
c.3781G>T (p.Asp1261Tyr)
c.4546G>T (p.Asp1516Tyr)
c.4735G>T (p.Asp1579Tyr)
c.4528G>T (p.Asp1510Tyr)
c.1231G>T (p.Asp411Tyr)
c.1276G>T (p.Asp426Tyr)
c.4732G>T (p.Asp1578Tyr)
c.1056G>T
c.1243G>T (p.Asp415Tyr)
c.*4452G>T (n.*4452G>T)
c.982G>T (p.Asp328Tyr)
c.5-10386G>T (n.5-10386G>T)
c.142G>T (p.Asp48Tyr)
c.-98-24147G>T (n.-98-24147G>T)
n.4805G>T
n.4846G>T
 ClinVar dbSNP
17g.43074337C=CA2260774424BRCA1c.4666G= (p.Asp1556=)
c.4669G= (p.Asp1557=)
c.4543G= (p.Asp1515=)
c.4663G= (p.Asp1555=)
c.4591G= (p.Asp1531=)
c.1357G= (p.Asp453=)
c.1219G= (p.Asp407=)
c.3781G= (p.Asp1261=)
c.4546G= (p.Asp1516=)
c.4735G= (p.Asp1579=)
c.4528G= (p.Asp1510=)
c.1231G= (p.Asp411=)
c.1276G= (p.Asp426=)
c.4732G= (p.Asp1578=)
c.1056G=
c.1243G= (p.Asp415=)
c.*4452G= (n.*4452G=)
c.982G= (p.Asp328=)
c.5-10386G= (n.5-10386G=)
c.142G= (p.Asp48=)
c.-98-24147G= (n.-98-24147G=)
n.4805G=
n.4846G=
17g.43074337C>GCA002955BRCA1c.4666G>C (p.Asp1556His)
c.4669G>C (p.Asp1557His)
c.4543G>C (p.Asp1515His)
c.4663G>C (p.Asp1555His)
c.4591G>C (p.Asp1531His)
c.1357G>C (p.Asp453His)
c.1219G>C (p.Asp407His)
c.3781G>C (p.Asp1261His)
c.4546G>C (p.Asp1516His)
c.4735G>C (p.Asp1579His)
c.4528G>C (p.Asp1510His)
c.1231G>C (p.Asp411His)
c.1276G>C (p.Asp426His)
c.4732G>C (p.Asp1578His)
c.1056G>C
c.1243G>C (p.Asp415His)
c.*4452G>C (n.*4452G>C)
c.982G>C (p.Asp328His)
c.5-10386G>C (n.5-10386G>C)
c.142G>C (p.Asp48His)
c.-98-24147G>C (n.-98-24147G>C)
n.4805G>C
n.4846G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43074337C>TCA10592173BRCA1c.4666G>A (p.Asp1556Asn)
c.4669G>A (p.Asp1557Asn)
c.4543G>A (p.Asp1515Asn)
c.4663G>A (p.Asp1555Asn)
c.4591G>A (p.Asp1531Asn)
c.1357G>A (p.Asp453Asn)
c.1219G>A (p.Asp407Asn)
c.3781G>A (p.Asp1261Asn)
c.4546G>A (p.Asp1516Asn)
c.4735G>A (p.Asp1579Asn)
c.4528G>A (p.Asp1510Asn)
c.1231G>A (p.Asp411Asn)
c.1276G>A (p.Asp426Asn)
c.4732G>A (p.Asp1578Asn)
c.1056G>A
c.1243G>A (p.Asp415Asn)
c.*4452G>A (n.*4452G>A)
c.982G>A (p.Asp328Asn)
c.5-10386G>A (n.5-10386G>A)
c.142G>A (p.Asp48Asn)
c.-98-24147G>A (n.-98-24147G>A)
n.4805G>A
n.4846G>A
 ClinVar dbSNP
17g.43074337_43074338delinsCTCA2260774425BRCA1c.4665_4666delinsAG (p.Gln1555=)
c.4668_4669delinsAG (p.Gln1556=)
c.4542_4543delinsAG (p.Gln1514=)
c.4662_4663delinsAG (p.Gln1554=)
c.4590_4591delinsAG (p.Gln1530=)
c.1356_1357delinsAG (p.Gln452=)
c.1218_1219delinsAG (p.Gln406=)
c.3780_3781delinsAG (p.Gln1260=)
c.4545_4546delinsAG (p.Gln1515=)
c.4734_4735delinsAG (p.Gln1578=)
c.4527_4528delinsAG (p.Gln1509=)
c.1230_1231delinsAG (p.Gln410=)
c.1275_1276delinsAG (p.Gln425=)
c.4731_4732delinsAG (p.Gln1577=)
c.1055_1056delinsAG
c.1242_1243delinsAG (p.Gln414=)
c.*4451_*4452delinsAG (n.*4451_*4452delinsAG)
c.981_982delinsAG (p.Gln327=)
c.5-10387_5-10386delinsAG (n.5-10387_5-10386delinsAG)
c.141_142delinsAG (p.Gln47=)
c.-98-24148_-98-24147delinsAG (n.-98-24148_-98-24147delinsAG)
n.4804_4805delinsAG
n.4845_4846delinsAG
17g.43074338T>ACA10592174BRCA1c.4665A>T (p.Gln1555His)
c.4668A>T (p.Gln1556His)
c.4542A>T (p.Gln1514His)
c.4662A>T (p.Gln1554His)
c.4590A>T (p.Gln1530His)
c.1356A>T (p.Gln452His)
c.1218A>T (p.Gln406His)
c.3780A>T (p.Gln1260His)
c.4545A>T (p.Gln1515His)
c.4734A>T (p.Gln1578His)
c.4527A>T (p.Gln1509His)
c.1230A>T (p.Gln410His)
c.1275A>T (p.Gln425His)
c.4731A>T (p.Gln1577His)
c.1055A>T
c.1242A>T (p.Gln414His)
c.*4451A>T (n.*4451A>T)
c.981A>T (p.Gln327His)
c.5-10387A>T (n.5-10387A>T)
c.141A>T (p.Gln47His)
c.-98-24148A>T (n.-98-24148A>T)
n.4804A>T
n.4845A>T
 dbSNP gnomAD v2 gnomAD v4
17g.43074338T>CCA500146492BRCA1c.4665A>G (p.Gln1555=)
c.4668A>G (p.Gln1556=)
c.4542A>G (p.Gln1514=)
c.4662A>G (p.Gln1554=)
c.4590A>G (p.Gln1530=)
c.1356A>G (p.Gln452=)
c.1218A>G (p.Gln406=)
c.3780A>G (p.Gln1260=)
c.4545A>G (p.Gln1515=)
c.4734A>G (p.Gln1578=)
c.4527A>G (p.Gln1509=)
c.1230A>G (p.Gln410=)
c.1275A>G (p.Gln425=)
c.4731A>G (p.Gln1577=)
c.1055A>G
c.1242A>G (p.Gln414=)
c.*4451A>G (n.*4451A>G)
c.981A>G (p.Gln327=)
c.5-10387A>G (n.5-10387A>G)
c.141A>G (p.Gln47=)
c.-98-24148A>G (n.-98-24148A>G)
n.4804A>G
n.4845A>G
 ClinVar dbSNP
17g.43074338T>GCA10592175BRCA1c.4665A>C (p.Gln1555His)
c.4668A>C (p.Gln1556His)
c.4542A>C (p.Gln1514His)
c.4662A>C (p.Gln1554His)
c.4590A>C (p.Gln1530His)
c.1356A>C (p.Gln452His)
c.1218A>C (p.Gln406His)
c.3780A>C (p.Gln1260His)
c.4545A>C (p.Gln1515His)
c.4734A>C (p.Gln1578His)
c.4527A>C (p.Gln1509His)
c.1230A>C (p.Gln410His)
c.1275A>C (p.Gln425His)
c.4731A>C (p.Gln1577His)
c.1055A>C
c.1242A>C (p.Gln414His)
c.*4451A>C (n.*4451A>C)
c.981A>C (p.Gln327His)
c.5-10387A>C (n.5-10387A>C)
c.141A>C (p.Gln47His)
c.-98-24148A>C (n.-98-24148A>C)
n.4804A>C
n.4845A>C
 ClinVar dbSNP
17g.43074338T=CA2260774426BRCA1c.4665A= (p.Gln1555=)
c.4668A= (p.Gln1556=)
c.4542A= (p.Gln1514=)
c.4662A= (p.Gln1554=)
c.4590A= (p.Gln1530=)
c.1356A= (p.Gln452=)
c.1218A= (p.Gln406=)
c.3780A= (p.Gln1260=)
c.4545A= (p.Gln1515=)
c.4734A= (p.Gln1578=)
c.4527A= (p.Gln1509=)
c.1230A= (p.Gln410=)
c.1275A= (p.Gln425=)
c.4731A= (p.Gln1577=)
c.1055A=
c.1242A= (p.Gln414=)
c.*4451A= (n.*4451A=)
c.981A= (p.Gln327=)
c.5-10387A= (n.5-10387A=)
c.141A= (p.Gln47=)
c.-98-24148A= (n.-98-24148A=)
n.4804A=
n.4845A=
17g.43074339dupCA10589650BRCA1c.4665dup (p.Asp1556ArgfsTer17)
c.4668dup (p.Asp1557ArgfsTer17)
c.4542dup (p.Asp1515ArgfsTer17)
c.4662dup (p.Asp1555ArgfsTer17)
c.4590dup (p.Asp1531ArgfsTer17)
c.1356dup (p.Asp453ArgfsTer17)
c.1218dup (p.Asp407ArgfsTer17)
c.3780dup (p.Asp1261ArgfsTer17)
c.4545dup (p.Asp1516ArgfsTer17)
c.4734dup (p.Asp1579ArgfsTer17)
c.4527dup (p.Asp1510ArgfsTer17)
c.1230dup (p.Asp411ArgfsTer17)
c.1275dup (p.Asp426ArgfsTer17)
c.4731dup (p.Asp1578ArgfsTer17)
c.1055dup
c.1242dup (p.Asp415ArgfsTer17)
c.*4451dup (n.*4451dup)
c.981dup (p.Asp328ArgfsTer17)
c.5-10387dup (n.5-10387dup)
c.141dup (p.Asp48ArgfsTer17)
c.-98-24148dup (n.-98-24148dup)
n.4804dup
n.4845dup
 ClinVar dbSNP
17g.43074339delCA1139665585BRCA1c.4665del (p.Asp1556IlefsTer2)
c.4668del (p.Asp1557IlefsTer2)
c.4542del (p.Asp1515IlefsTer2)
c.4662del (p.Asp1555IlefsTer2)
c.4590del (p.Asp1531IlefsTer2)
c.1356del (p.Asp453IlefsTer2)
c.1218del (p.Asp407IlefsTer2)
c.3780del (p.Asp1261IlefsTer2)
c.4545del (p.Asp1516IlefsTer2)
c.4734del (p.Asp1579IlefsTer2)
c.4527del (p.Asp1510IlefsTer2)
c.1230del (p.Asp411IlefsTer2)
c.1275del (p.Asp426IlefsTer2)
c.4731del (p.Asp1578IlefsTer2)
c.1055del
c.1242del (p.Asp415IlefsTer2)
c.*4451del (n.*4451del)
c.981del (p.Asp328IlefsTer2)
c.5-10387del (n.5-10387del)
c.141del (p.Asp48IlefsTer2)
c.-98-24148del (n.-98-24148del)
n.4804del
n.4845del
 ClinVar dbSNP
17g.43074339T>ACA10592176BRCA1c.4664A>T (p.Gln1555Leu)
c.4667A>T (p.Gln1556Leu)
c.4541A>T (p.Gln1514Leu)
c.4661A>T (p.Gln1554Leu)
c.4589A>T (p.Gln1530Leu)
c.1355A>T (p.Gln452Leu)
c.1217A>T (p.Gln406Leu)
c.3779A>T (p.Gln1260Leu)
c.4544A>T (p.Gln1515Leu)
c.4733A>T (p.Gln1578Leu)
c.4526A>T (p.Gln1509Leu)
c.1229A>T (p.Gln410Leu)
c.1274A>T (p.Gln425Leu)
c.4730A>T (p.Gln1577Leu)
c.1054A>T
c.1241A>T (p.Gln414Leu)
c.*4450A>T (n.*4450A>T)
c.980A>T (p.Gln327Leu)
c.5-10388A>T (n.5-10388A>T)
c.140A>T (p.Gln47Leu)
c.-98-24149A>T (n.-98-24149A>T)
n.4803A>T
n.4844A>T
17g.43074339T>CCA10592177BRCA1c.4664A>G (p.Gln1555Arg)
c.4667A>G (p.Gln1556Arg)
c.4541A>G (p.Gln1514Arg)
c.4661A>G (p.Gln1554Arg)
c.4589A>G (p.Gln1530Arg)
c.1355A>G (p.Gln452Arg)
c.1217A>G (p.Gln406Arg)
c.3779A>G (p.Gln1260Arg)
c.4544A>G (p.Gln1515Arg)
c.4733A>G (p.Gln1578Arg)
c.4526A>G (p.Gln1509Arg)
c.1229A>G (p.Gln410Arg)
c.1274A>G (p.Gln425Arg)
c.4730A>G (p.Gln1577Arg)
c.1054A>G
c.1241A>G (p.Gln414Arg)
c.*4450A>G (n.*4450A>G)
c.980A>G (p.Gln327Arg)
c.5-10388A>G (n.5-10388A>G)
c.140A>G (p.Gln47Arg)
c.-98-24149A>G (n.-98-24149A>G)
n.4803A>G
n.4844A>G
 ClinVar dbSNP
17g.43074339T>GCA10592178BRCA1c.4664A>C (p.Gln1555Pro)
c.4667A>C (p.Gln1556Pro)
c.4541A>C (p.Gln1514Pro)
c.4661A>C (p.Gln1554Pro)
c.4589A>C (p.Gln1530Pro)
c.1355A>C (p.Gln452Pro)
c.1217A>C (p.Gln406Pro)
c.3779A>C (p.Gln1260Pro)
c.4544A>C (p.Gln1515Pro)
c.4733A>C (p.Gln1578Pro)
c.4526A>C (p.Gln1509Pro)
c.1229A>C (p.Gln410Pro)
c.1274A>C (p.Gln425Pro)
c.4730A>C (p.Gln1577Pro)
c.1054A>C
c.1241A>C (p.Gln414Pro)
c.*4450A>C (n.*4450A>C)
c.980A>C (p.Gln327Pro)
c.5-10388A>C (n.5-10388A>C)
c.140A>C (p.Gln47Pro)
c.-98-24149A>C (n.-98-24149A>C)
n.4803A>C
n.4844A>C
17g.43074339T=CA2260774427BRCA1c.4664A= (p.Gln1555=)
c.4667A= (p.Gln1556=)
c.4541A= (p.Gln1514=)
c.4661A= (p.Gln1554=)
c.4589A= (p.Gln1530=)
c.1355A= (p.Gln452=)
c.1217A= (p.Gln406=)
c.3779A= (p.Gln1260=)
c.4544A= (p.Gln1515=)
c.4733A= (p.Gln1578=)
c.4526A= (p.Gln1509=)
c.1229A= (p.Gln410=)
c.1274A= (p.Gln425=)
c.4730A= (p.Gln1577=)
c.1054A=
c.1241A= (p.Gln414=)
c.*4450A= (n.*4450A=)
c.980A= (p.Gln327=)
c.5-10388A= (n.5-10388A=)
c.140A= (p.Gln47=)
c.-98-24149A= (n.-98-24149A=)
n.4803A=
n.4844A=
17g.43074340G>ACA10592179BRCA1c.4663C>T (p.Gln1555Ter)
c.4666C>T (p.Gln1556Ter)
c.4540C>T (p.Gln1514Ter)
c.4660C>T (p.Gln1554Ter)
c.4588C>T (p.Gln1530Ter)
c.1354C>T (p.Gln452Ter)
c.1216C>T (p.Gln406Ter)
c.3778C>T (p.Gln1260Ter)
c.4543C>T (p.Gln1515Ter)
c.4732C>T (p.Gln1578Ter)
c.4525C>T (p.Gln1509Ter)
c.1228C>T (p.Gln410Ter)
c.1273C>T (p.Gln425Ter)
c.4729C>T (p.Gln1577Ter)
c.1053C>T
c.1240C>T (p.Gln414Ter)
c.*4449C>T (n.*4449C>T)
c.979C>T (p.Gln327Ter)
c.5-10389C>T (n.5-10389C>T)
c.139C>T (p.Gln47Ter)
c.-98-24150C>T (n.-98-24150C>T)
n.4802C>T
n.4843C>T
 ClinVar dbSNP
17g.43074340G>CCA10592180BRCA1c.4663C>G (p.Gln1555Glu)
c.4666C>G (p.Gln1556Glu)
c.4540C>G (p.Gln1514Glu)
c.4660C>G (p.Gln1554Glu)
c.4588C>G (p.Gln1530Glu)
c.1354C>G (p.Gln452Glu)
c.1216C>G (p.Gln406Glu)
c.3778C>G (p.Gln1260Glu)
c.4543C>G (p.Gln1515Glu)
c.4732C>G (p.Gln1578Glu)
c.4525C>G (p.Gln1509Glu)
c.1228C>G (p.Gln410Glu)
c.1273C>G (p.Gln425Glu)
c.4729C>G (p.Gln1577Glu)
c.1053C>G
c.1240C>G (p.Gln414Glu)
c.*4449C>G (n.*4449C>G)
c.979C>G (p.Gln327Glu)
c.5-10389C>G (n.5-10389C>G)
c.139C>G (p.Gln47Glu)
c.-98-24150C>G (n.-98-24150C>G)
n.4802C>G
n.4843C>G
 dbSNP
17g.43074340G=CA2260774429BRCA1c.4663C= (p.Gln1555=)
c.4666C= (p.Gln1556=)
c.4540C= (p.Gln1514=)
c.4660C= (p.Gln1554=)
c.4588C= (p.Gln1530=)
c.1354C= (p.Gln452=)
c.1216C= (p.Gln406=)
c.3778C= (p.Gln1260=)
c.4543C= (p.Gln1515=)
c.4732C= (p.Gln1578=)
c.4525C= (p.Gln1509=)
c.1228C= (p.Gln410=)
c.1273C= (p.Gln425=)
c.4729C= (p.Gln1577=)
c.1053C=
c.1240C= (p.Gln414=)
c.*4449C= (n.*4449C=)
c.979C= (p.Gln327=)
c.5-10389C= (n.5-10389C=)
c.139C= (p.Gln47=)
c.-98-24150C= (n.-98-24150C=)
n.4802C=
n.4843C=
17g.43074340G>TCA10592181BRCA1c.4663C>A (p.Gln1555Lys)
c.4666C>A (p.Gln1556Lys)
c.4540C>A (p.Gln1514Lys)
c.4660C>A (p.Gln1554Lys)
c.4588C>A (p.Gln1530Lys)
c.1354C>A (p.Gln452Lys)
c.1216C>A (p.Gln406Lys)
c.3778C>A (p.Gln1260Lys)
c.4543C>A (p.Gln1515Lys)
c.4732C>A (p.Gln1578Lys)
c.4525C>A (p.Gln1509Lys)
c.1228C>A (p.Gln410Lys)
c.1273C>A (p.Gln425Lys)
c.4729C>A (p.Gln1577Lys)
c.1053C>A
c.1240C>A (p.Gln414Lys)
c.*4449C>A (n.*4449C>A)
c.979C>A (p.Gln327Lys)
c.5-10389C>A (n.5-10389C>A)
c.139C>A (p.Gln47Lys)
c.-98-24150C>A (n.-98-24150C>A)
n.4802C>A
n.4843C>A
17g.43074342_43074347delCA2580094221BRCA1c.4658_4663del (p.Pro1553_Arg1554del)
c.4661_4666del (p.Pro1554_Arg1555del)
c.4535_4540del (p.Pro1512_Arg1513del)
c.4655_4660del (p.Pro1552_Arg1553del)
c.4583_4588del (p.Pro1528_Arg1529del)
c.1349_1354del (p.Pro450_Arg451del)
c.1211_1216del (p.Pro404_Arg405del)
c.3773_3778del (p.Pro1258_Arg1259del)
c.4538_4543del (p.Pro1513_Arg1514del)
c.4727_4732del (p.Pro1576_Arg1577del)
c.4520_4525del (p.Pro1507_Arg1508del)
c.1223_1228del (p.Pro408_Arg409del)
c.1268_1273del (p.Pro423_Arg424del)
c.4724_4729del (p.Pro1575_Arg1576del)
c.1048_1053del
c.1235_1240del (p.Pro412_Arg413del)
c.*4444_*4449del (n.*4444_*4449del)
c.974_979del (p.Pro325_Arg326del)
c.5-10394_5-10389del (n.5-10394_5-10389del)
c.134_139del (p.Pro45_Arg46del)
c.-98-24155_-98-24150del (n.-98-24155_-98-24150del)
n.4797_4802del
n.4838_4843del
 ClinVar

Number of alleles fetched