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.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.43075650_43084252dupCA2580612642BRCA1c.4186-1676_4481+839dup
c.4186-1676_4484+839dup
c.4060-1676_4358+839dup
c.4183-1679_4478+839dup
c.4108-1676_4406+839dup
c.874-1676_1172+839dup
c.736-1676_1034+839dup
c.3298-1676_3596+839dup
c.4063-1676_4361+839dup
c.4186-1676_4550+839dup
c.4045-1676_4343+839dup
c.754-1679_1046+839dup
c.796-1676_1091+839dup
c.4186-1676_4547+839dup
c.507-1676_871+839dup
c.760-1676_1058+839dup
c.*3969-1676_*4267+839dup
c.877-1676_1172+839dup
c.499-1676_797+839dup
c.5-20300_5-11698dup (n.5-20300_5-11698dup)
c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup)
c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup)
n.4322-1676_4620+839dup
n.4363-1676_4661+839dup
17g.43075943_43080892delCA16609626BRCA1c.4357+1514_4481+547del
c.4357+1514_4484+547del
c.4231+1514_4358+547del
c.4351+1514_4478+547del
c.4279+1514_4406+547del
c.1045+1514_1172+547del
c.907+1514_1034+547del
c.3469+1514_3596+547del
c.4234+1514_4361+547del
c.4358-1491_4550+547del
c.4216+1514_4343+547del
c.922+1514_1046+547del
c.967+1514_1091+547del
c.4358-1491_4547+547del
c.679-1491_871+547del
c.931+1514_1058+547del
c.*4140+1514_*4267+547del
c.1048+1514_1172+547del
c.670+1514_797+547del
c.5-16939_5-11990del (n.5-16939_5-11990del)
c.-43-6369_-43-1420del (n.-43-6369_-43-1420del)
c.-98-30700_-98-25751del (n.-98-30700_-98-25751del)
n.4493+1514_4620+547del
n.4534+1514_4661+547del
 ClinVar
17g.43076486_43076615delCA2499224413BRCA1c.4358-4_4481+2del
c.4358-1_4484+2del
c.4232-1_4358+2del
c.4352-1_4478+2del
c.4280-1_4406+2del
c.1046-1_1172+2del
c.908-1_1034+2del
c.3470-1_3596+2del
c.4235-1_4361+2del
c.4424-1_4550+2del
c.4217-1_4343+2del
c.923-4_1046+2del
c.968-4_1091+2del
c.4424-4_4547+2del
c.745-1_871+2del
c.932-1_1058+2del
c.*4141-1_*4267+2del
c.1049-4_1172+2del
c.671-1_797+2del
c.5-12664_5-12535del (n.5-12664_5-12535del)
c.-43-2094_-43-1965del (n.-43-2094_-43-1965del)
c.-98-26425_-98-26296del (n.-98-26425_-98-26296del)
n.4494-1_4620+2del
n.4535-1_4661+2del
 ClinVar dbSNP
17g.43076492_43076618dupCA658653640BRCA1c.4358-3_4481dup
c.4358_4484dup
c.4232_4358dup
c.4352_4478dup
c.4280_4406dup
c.1046_1172dup
c.908_1034dup
c.3470_3596dup
c.4235_4361dup
c.4424_4550dup
c.4217_4343dup
c.923-3_1046dup
c.968-3_1091dup
c.4424-3_4547dup
c.745_871dup
c.932_1058dup
c.*4141_*4267dup
c.1049-3_1172dup
c.671_797dup
c.5-12663_5-12537dup (n.5-12663_5-12537dup)
c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup)
c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup)
n.4494_4620dup
n.4535_4661dup
17g.43076492_43076618delCA002799BRCA1c.4358-3_4481del
c.4358_4484del
c.4232_4358del
c.4352_4478del
c.4280_4406del
c.1046_1172del
c.908_1034del
c.3470_3596del
c.4235_4361del
c.4424_4550del
c.4217_4343del
c.923-3_1046del
c.968-3_1091del
c.4424-3_4547del
c.745_871del
c.932_1058del
c.*4141_*4267del
c.1049-3_1172del
c.671_797del
c.674_800del
c.5-12663_5-12537del (n.5-12663_5-12537del)
c.-43-2093_-43-1967del (n.-43-2093_-43-1967del)
c.-98-26424_-98-26298del (n.-98-26424_-98-26298del)
n.252-3_375del
n.4494_4620del
n.4535_4661del
 ClinVar
17g.43076551_43079399delCA10590062BRCA1c.4358-2788_4418del
c.4358-2785_4421del
c.4232-2785_4295del
c.4352-2785_4415del
c.4280-2785_4343del
c.1046-2785_1109del
c.908-2785_971del
c.3470-2785_3533del
c.4235-2785_4298del
c.4358_4487del
c.4217-2785_4280del
c.923-2788_983del
c.968-2788_1028del
c.4358_4484del
c.679_808del
c.932-2785_995del
c.*4141-2785_*4204del
c.652-2788_712del
c.1049-2788_1109del
c.671-2785_734del
c.674-2785_737del
c.5-15448_5-12600del (n.5-15448_5-12600del)
c.-43-4878_-43-2030del (n.-43-4878_-43-2030del)
c.-98-29209_-98-26361del (n.-98-29209_-98-26361del)
n.252-2788_312del
n.4494-2785_4557del
n.4535-2785_4598del
17g.43076568_43076581delinsATTCTGGCTTATAGCA2260775512BRCA1c.4388_4401delinsCTATAAGCCAGAAT (p.Pro1463=)
c.4391_4404delinsCTATAAGCCAGAAT (p.Pro1464=)
c.4265_4278delinsCTATAAGCCAGAAT (p.Pro1422=)
c.4385_4398delinsCTATAAGCCAGAAT (p.Pro1462=)
c.4313_4326delinsCTATAAGCCAGAAT (p.Pro1438=)
c.1079_1092delinsCTATAAGCCAGAAT (p.Pro360=)
c.941_954delinsCTATAAGCCAGAAT (p.Pro314=)
c.3503_3516delinsCTATAAGCCAGAAT (p.Pro1168=)
c.4268_4281delinsCTATAAGCCAGAAT (p.Pro1423=)
c.4457_4470delinsCTATAAGCCAGAAT (p.Pro1486=)
c.4250_4263delinsCTATAAGCCAGAAT (p.Pro1417=)
c.953_966delinsCTATAAGCCAGAAT (p.Pro318=)
c.998_1011delinsCTATAAGCCAGAAT (p.Pro333=)
c.4454_4467delinsCTATAAGCCAGAAT (p.Pro1485=)
c.778_791delinsCTATAAGCCAGAAT
c.965_978delinsCTATAAGCCAGAAT (p.Pro322=)
c.*4174_*4187delinsCTATAAGCCAGAAT (n.*4174_*4187delinsCTATAAGCCAGAAT)
c.682_695delinsCTATAAGCCAGAAT
c.704_717delinsCTATAAGCCAGAAT (p.Pro235=)
c.707_720delinsCTATAAGCCAGAAT (p.Pro236=)
c.5-12630_5-12617delinsCTATAAGCCAGAAT (n.5-12630_5-12617delinsCTATAAGCCAGAAT)
c.-43-2060_-43-2047delinsCTATAAGCCAGAAT (n.-43-2060_-43-2047delinsCTATAAGCCAGAAT)
c.-98-26391_-98-26378delinsCTATAAGCCAGAAT (n.-98-26391_-98-26378delinsCTATAAGCCAGAAT)
n.282_295delinsCTATAAGCCAGAAT
n.4527_4540delinsCTATAAGCCAGAAT
n.4568_4581delinsCTATAAGCCAGAAT
17g.43076569_43076581delinsAACA002817BRCA1c.4388_4400delinsTT (p.Pro1463LeufsTer8)
c.4391_4403delinsTT (p.Pro1464LeufsTer8)
c.4265_4277delinsTT (p.Pro1422LeufsTer8)
c.4385_4397delinsTT (p.Pro1462LeufsTer8)
c.4313_4325delinsTT (p.Pro1438LeufsTer8)
c.1079_1091delinsTT (p.Pro360LeufsTer8)
c.941_953delinsTT (p.Pro314LeufsTer8)
c.3503_3515delinsTT (p.Pro1168LeufsTer8)
c.4268_4280delinsTT (p.Pro1423LeufsTer8)
c.4457_4469delinsTT (p.Pro1486LeufsTer8)
c.4250_4262delinsTT (p.Pro1417LeufsTer8)
c.953_965delinsTT (p.Pro318LeufsTer8)
c.998_1010delinsTT (p.Pro333LeufsTer8)
c.4454_4466delinsTT (p.Pro1485LeufsTer8)
c.778_790delinsTT
c.965_977delinsTT (p.Pro322LeufsTer8)
c.*4174_*4186delinsTT (n.*4174_*4186delinsTT)
c.682_694delinsTT
c.704_716delinsTT (p.Pro235LeufsTer8)
c.707_719delinsTT (p.Pro236LeufsTer8)
c.5-12630_5-12618delinsTT (n.5-12630_5-12618delinsTT)
c.-43-2060_-43-2048delinsTT (n.-43-2060_-43-2048delinsTT)
c.-98-26391_-98-26379delinsTT (n.-98-26391_-98-26379delinsTT)
n.282_294delinsTT
n.4527_4539delinsTT
n.4568_4580delinsTT
 ClinVar dbSNP
17g.43076578_43076581delinsATAGCA2260775521BRCA1c.4388_4391delinsCTAT (p.Pro1463=)
c.4391_4394delinsCTAT (p.Pro1464=)
c.4265_4268delinsCTAT (p.Pro1422=)
c.4385_4388delinsCTAT (p.Pro1462=)
c.4313_4316delinsCTAT (p.Pro1438=)
c.1079_1082delinsCTAT (p.Pro360=)
c.941_944delinsCTAT (p.Pro314=)
c.3503_3506delinsCTAT (p.Pro1168=)
c.4268_4271delinsCTAT (p.Pro1423=)
c.4457_4460delinsCTAT (p.Pro1486=)
c.4250_4253delinsCTAT (p.Pro1417=)
c.953_956delinsCTAT (p.Pro318=)
c.998_1001delinsCTAT (p.Pro333=)
c.4454_4457delinsCTAT (p.Pro1485=)
c.778_781delinsCTAT
c.965_968delinsCTAT (p.Pro322=)
c.*4174_*4177delinsCTAT (n.*4174_*4177delinsCTAT)
c.682_685delinsCTAT
c.704_707delinsCTAT (p.Pro235=)
c.707_710delinsCTAT (p.Pro236=)
c.5-12630_5-12627delinsCTAT (n.5-12630_5-12627delinsCTAT)
c.-43-2060_-43-2057delinsCTAT (n.-43-2060_-43-2057delinsCTAT)
c.-98-26391_-98-26388delinsCTAT (n.-98-26391_-98-26388delinsCTAT)
n.282_285delinsCTAT
n.4527_4530delinsCTAT
n.4568_4571delinsCTAT
17g.43076579_43076581delinsAACA002815BRCA1c.4388_4390delinsTT (p.Pro1463LeufsTer2)
c.4391_4393delinsTT (p.Pro1464LeufsTer2)
c.4265_4267delinsTT (p.Pro1422LeufsTer2)
c.4385_4387delinsTT (p.Pro1462LeufsTer2)
c.4313_4315delinsTT (p.Pro1438LeufsTer2)
c.1079_1081delinsTT (p.Pro360LeufsTer2)
c.941_943delinsTT (p.Pro314LeufsTer2)
c.3503_3505delinsTT (p.Pro1168LeufsTer2)
c.4268_4270delinsTT (p.Pro1423LeufsTer2)
c.4457_4459delinsTT (p.Pro1486LeufsTer2)
c.4250_4252delinsTT (p.Pro1417LeufsTer2)
c.953_955delinsTT (p.Pro318LeufsTer2)
c.998_1000delinsTT (p.Pro333LeufsTer2)
c.4454_4456delinsTT (p.Pro1485LeufsTer2)
c.778_780delinsTT
c.965_967delinsTT (p.Pro322LeufsTer2)
c.*4174_*4176delinsTT (n.*4174_*4176delinsTT)
c.682_684delinsTT
c.704_706delinsTT (p.Pro235LeufsTer2)
c.707_709delinsTT (p.Pro236LeufsTer2)
c.5-12630_5-12628delinsTT (n.5-12630_5-12628delinsTT)
c.-43-2060_-43-2058delinsTT (n.-43-2060_-43-2058delinsTT)
c.-98-26391_-98-26389delinsTT (n.-98-26391_-98-26389delinsTT)
n.282_284delinsTT
n.4527_4529delinsTT
n.4568_4570delinsTT
 ClinVar dbSNP
17g.43076580_43076581delinsAGCA2260775526BRCA1c.4388_4389delinsCT (p.Pro1463=)
c.4391_4392delinsCT (p.Pro1464=)
c.4265_4266delinsCT (p.Pro1422=)
c.4385_4386delinsCT (p.Pro1462=)
c.4313_4314delinsCT (p.Pro1438=)
c.1079_1080delinsCT (p.Pro360=)
c.941_942delinsCT (p.Pro314=)
c.3503_3504delinsCT (p.Pro1168=)
c.4268_4269delinsCT (p.Pro1423=)
c.4457_4458delinsCT (p.Pro1486=)
c.4250_4251delinsCT (p.Pro1417=)
c.953_954delinsCT (p.Pro318=)
c.998_999delinsCT (p.Pro333=)
c.4454_4455delinsCT (p.Pro1485=)
c.778_779delinsCT
c.965_966delinsCT (p.Pro322=)
c.*4174_*4175delinsCT (n.*4174_*4175delinsCT)
c.682_683delinsCT
c.704_705delinsCT (p.Pro235=)
c.707_708delinsCT (p.Pro236=)
c.5-12630_5-12629delinsCT (n.5-12630_5-12629delinsCT)
c.-43-2060_-43-2059delinsCT (n.-43-2060_-43-2059delinsCT)
c.-98-26391_-98-26390delinsCT (n.-98-26391_-98-26390delinsCT)
n.282_283delinsCT
n.4527_4528delinsCT
n.4568_4569delinsCT
17g.43076580_43076583dupCA10585914BRCA1c.4386_4389dup (p.Ile1464ProfsTer12)
c.4389_4392dup (p.Ile1465ProfsTer12)
c.4263_4266dup (p.Ile1423ProfsTer12)
c.4383_4386dup (p.Ile1463ProfsTer12)
c.4311_4314dup (p.Ile1439ProfsTer12)
c.1077_1080dup (p.Ile361ProfsTer12)
c.939_942dup (p.Ile315ProfsTer12)
c.3501_3504dup (p.Ile1169ProfsTer12)
c.4266_4269dup (p.Ile1424ProfsTer12)
c.4455_4458dup (p.Ile1487ProfsTer12)
c.4248_4251dup (p.Ile1418ProfsTer12)
c.951_954dup (p.Ile319ProfsTer12)
c.996_999dup (p.Ile334ProfsTer12)
c.4452_4455dup (p.Ile1486ProfsTer12)
c.776_779dup
c.963_966dup (p.Ile323ProfsTer12)
c.*4172_*4175dup (n.*4172_*4175dup)
c.680_683dup
c.702_705dup (p.Ile236ProfsTer12)
c.705_708dup (p.Ile237ProfsTer12)
c.5-12632_5-12629dup (n.5-12632_5-12629dup)
c.-43-2062_-43-2059dup (n.-43-2062_-43-2059dup)
c.-98-26393_-98-26390dup (n.-98-26393_-98-26390dup)
n.280_283dup
n.4525_4528dup
n.4566_4569dup
 ClinVar dbSNP
17g.43076580_43076593delinsTGGGTATTCACTATCA2695225926BRCA1c.4376_4389delinsATAGTGAATACCCA (p.Ser1459Asn)
c.4379_4392delinsATAGTGAATACCCA (p.Ser1460Asn)
c.4253_4266delinsATAGTGAATACCCA (p.Ser1418Asn)
c.4373_4386delinsATAGTGAATACCCA (p.Ser1458Asn)
c.4301_4314delinsATAGTGAATACCCA (p.Ser1434Asn)
c.1067_1080delinsATAGTGAATACCCA (p.Ser356Asn)
c.929_942delinsATAGTGAATACCCA (p.Ser310Asn)
c.3491_3504delinsATAGTGAATACCCA (p.Ser1164Asn)
c.4256_4269delinsATAGTGAATACCCA (p.Ser1419Asn)
c.4445_4458delinsATAGTGAATACCCA (p.Ser1482Asn)
c.4238_4251delinsATAGTGAATACCCA (p.Ser1413Asn)
c.941_954delinsATAGTGAATACCCA (p.Ser314Asn)
c.986_999delinsATAGTGAATACCCA (p.Ser329Asn)
c.4442_4455delinsATAGTGAATACCCA (p.Ser1481Asn)
c.766_779delinsATAGTGAATACCCA
c.953_966delinsATAGTGAATACCCA (p.Ser318Asn)
c.*4162_*4175delinsATAGTGAATACCCA (n.*4162_*4175delinsATAGTGAATACCCA)
c.670_683delinsATAGTGAATACCCA
c.692_705delinsATAGTGAATACCCA (p.Ser231Asn)
c.695_708delinsATAGTGAATACCCA (p.Ser232Asn)
c.5-12642_5-12629delinsATAGTGAATACCCA (n.5-12642_5-12629delinsATAGTGAATACCCA)
c.-43-2072_-43-2059delinsATAGTGAATACCCA (n.-43-2072_-43-2059delinsATAGTGAATACCCA)
c.-98-26403_-98-26390delinsATAGTGAATACCCA (n.-98-26403_-98-26390delinsATAGTGAATACCCA)
n.270_283delinsATAGTGAATACCCA
n.4515_4528delinsATAGTGAATACCCA
n.4556_4569delinsATAGTGAATACCCA
17g.43076581G>ACA10592753BRCA1c.4388C>T (p.Pro1463Leu)
c.4391C>T (p.Pro1464Leu)
c.4265C>T (p.Pro1422Leu)
c.4385C>T (p.Pro1462Leu)
c.4313C>T (p.Pro1438Leu)
c.1079C>T (p.Pro360Leu)
c.941C>T (p.Pro314Leu)
c.3503C>T (p.Pro1168Leu)
c.4268C>T (p.Pro1423Leu)
c.4457C>T (p.Pro1486Leu)
c.4250C>T (p.Pro1417Leu)
c.953C>T (p.Pro318Leu)
c.998C>T (p.Pro333Leu)
c.4454C>T (p.Pro1485Leu)
c.778C>T
c.965C>T (p.Pro322Leu)
c.*4174C>T (n.*4174C>T)
c.682C>T
c.704C>T (p.Pro235Leu)
c.707C>T (p.Pro236Leu)
c.5-12630C>T (n.5-12630C>T)
c.-43-2060C>T (n.-43-2060C>T)
c.-98-26391C>T (n.-98-26391C>T)
n.282C>T
n.4527C>T
n.4568C>T
 ClinVar dbSNP gnomAD v4
17g.43076581G>CCA10592754BRCA1c.4388C>G (p.Pro1463Arg)
c.4391C>G (p.Pro1464Arg)
c.4265C>G (p.Pro1422Arg)
c.4385C>G (p.Pro1462Arg)
c.4313C>G (p.Pro1438Arg)
c.1079C>G (p.Pro360Arg)
c.941C>G (p.Pro314Arg)
c.3503C>G (p.Pro1168Arg)
c.4268C>G (p.Pro1423Arg)
c.4457C>G (p.Pro1486Arg)
c.4250C>G (p.Pro1417Arg)
c.953C>G (p.Pro318Arg)
c.998C>G (p.Pro333Arg)
c.4454C>G (p.Pro1485Arg)
c.778C>G
c.965C>G (p.Pro322Arg)
c.*4174C>G (n.*4174C>G)
c.682C>G
c.704C>G (p.Pro235Arg)
c.707C>G (p.Pro236Arg)
c.5-12630C>G (n.5-12630C>G)
c.-43-2060C>G (n.-43-2060C>G)
c.-98-26391C>G (n.-98-26391C>G)
n.282C>G
n.4527C>G
n.4568C>G
 ClinVar dbSNP
17g.43076581G=CA2260775527BRCA1c.4388C= (p.Pro1463=)
c.4391C= (p.Pro1464=)
c.4265C= (p.Pro1422=)
c.4385C= (p.Pro1462=)
c.4313C= (p.Pro1438=)
c.1079C= (p.Pro360=)
c.941C= (p.Pro314=)
c.3503C= (p.Pro1168=)
c.4268C= (p.Pro1423=)
c.4457C= (p.Pro1486=)
c.4250C= (p.Pro1417=)
c.953C= (p.Pro318=)
c.998C= (p.Pro333=)
c.4454C= (p.Pro1485=)
c.778C=
c.965C= (p.Pro322=)
c.*4174C= (n.*4174C=)
c.682C=
c.704C= (p.Pro235=)
c.707C= (p.Pro236=)
c.5-12630C= (n.5-12630C=)
c.-43-2060C= (n.-43-2060C=)
c.-98-26391C= (n.-98-26391C=)
n.282C=
n.4527C=
n.4568C=
17g.43076581G>TCA10592755BRCA1c.4388C>A (p.Pro1463His)
c.4391C>A (p.Pro1464His)
c.4265C>A (p.Pro1422His)
c.4385C>A (p.Pro1462His)
c.4313C>A (p.Pro1438His)
c.1079C>A (p.Pro360His)
c.941C>A (p.Pro314His)
c.3503C>A (p.Pro1168His)
c.4268C>A (p.Pro1423His)
c.4457C>A (p.Pro1486His)
c.4250C>A (p.Pro1417His)
c.953C>A (p.Pro318His)
c.998C>A (p.Pro333His)
c.4454C>A (p.Pro1485His)
c.778C>A
c.965C>A (p.Pro322His)
c.*4174C>A (n.*4174C>A)
c.682C>A
c.704C>A (p.Pro235His)
c.707C>A (p.Pro236His)
c.5-12630C>A (n.5-12630C>A)
c.-43-2060C>A (n.-43-2060C>A)
c.-98-26391C>A (n.-98-26391C>A)
n.282C>A
n.4527C>A
n.4568C>A
 dbSNP
17g.43076583dupCA327931BRCA1c.4388dup (p.Ile1464TyrfsTer11)
c.4391dup (p.Ile1465TyrfsTer11)
c.4265dup (p.Ile1423TyrfsTer11)
c.4385dup (p.Ile1463TyrfsTer11)
c.4313dup (p.Ile1439TyrfsTer11)
c.1079dup (p.Ile361TyrfsTer11)
c.941dup (p.Ile315TyrfsTer11)
c.3503dup (p.Ile1169TyrfsTer11)
c.4268dup (p.Ile1424TyrfsTer11)
c.4457dup (p.Ile1487TyrfsTer11)
c.4250dup (p.Ile1418TyrfsTer11)
c.953dup (p.Ile319TyrfsTer11)
c.998dup (p.Ile334TyrfsTer11)
c.4454dup (p.Ile1486TyrfsTer11)
c.778dup
c.965dup (p.Ile323TyrfsTer11)
c.*4174dup (n.*4174dup)
c.682dup
c.704dup (p.Ile236TyrfsTer11)
c.707dup (p.Ile237TyrfsTer11)
c.5-12630dup (n.5-12630dup)
c.-43-2060dup (n.-43-2060dup)
c.-98-26391dup (n.-98-26391dup)
n.282dup
n.4527dup
n.4568dup
 ClinVar dbSNP gnomAD v4
17g.43076583delCA002818BRCA1c.4388del (p.Pro1463LeufsTer2)
c.4391del (p.Pro1464LeufsTer2)
c.4265del (p.Pro1422LeufsTer2)
c.4385del (p.Pro1462LeufsTer2)
c.4313del (p.Pro1438LeufsTer2)
c.1079del (p.Pro360LeufsTer2)
c.941del (p.Pro314LeufsTer2)
c.3503del (p.Pro1168LeufsTer2)
c.4268del (p.Pro1423LeufsTer2)
c.4457del (p.Pro1486LeufsTer2)
c.4250del (p.Pro1417LeufsTer2)
c.953del (p.Pro318LeufsTer2)
c.998del (p.Pro333LeufsTer2)
c.4454del (p.Pro1485LeufsTer2)
c.778del
c.965del (p.Pro322LeufsTer2)
c.*4174del (n.*4174del)
c.682del
c.704del (p.Pro235LeufsTer2)
c.707del (p.Pro236LeufsTer2)
c.5-12630del (n.5-12630del)
c.-43-2060del (n.-43-2060del)
c.-98-26391del (n.-98-26391del)
n.282del
n.4527del
n.4568del
 ClinVar dbSNP
17g.43076582G>ACA10592756BRCA1c.4387C>T (p.Pro1463Ser)
c.4390C>T (p.Pro1464Ser)
c.4264C>T (p.Pro1422Ser)
c.4384C>T (p.Pro1462Ser)
c.4312C>T (p.Pro1438Ser)
c.1078C>T (p.Pro360Ser)
c.940C>T (p.Pro314Ser)
c.3502C>T (p.Pro1168Ser)
c.4267C>T (p.Pro1423Ser)
c.4456C>T (p.Pro1486Ser)
c.4249C>T (p.Pro1417Ser)
c.952C>T (p.Pro318Ser)
c.997C>T (p.Pro333Ser)
c.4453C>T (p.Pro1485Ser)
c.777C>T
c.964C>T (p.Pro322Ser)
c.*4173C>T (n.*4173C>T)
c.681C>T
c.703C>T (p.Pro235Ser)
c.706C>T (p.Pro236Ser)
c.5-12631C>T (n.5-12631C>T)
c.-43-2061C>T (n.-43-2061C>T)
c.-98-26392C>T (n.-98-26392C>T)
n.281C>T
n.4526C>T
n.4567C>T
 ClinVar dbSNP
17g.43076582G>CCA10592757BRCA1c.4387C>G (p.Pro1463Ala)
c.4390C>G (p.Pro1464Ala)
c.4264C>G (p.Pro1422Ala)
c.4384C>G (p.Pro1462Ala)
c.4312C>G (p.Pro1438Ala)
c.1078C>G (p.Pro360Ala)
c.940C>G (p.Pro314Ala)
c.3502C>G (p.Pro1168Ala)
c.4267C>G (p.Pro1423Ala)
c.4456C>G (p.Pro1486Ala)
c.4249C>G (p.Pro1417Ala)
c.952C>G (p.Pro318Ala)
c.997C>G (p.Pro333Ala)
c.4453C>G (p.Pro1485Ala)
c.777C>G
c.964C>G (p.Pro322Ala)
c.*4173C>G (n.*4173C>G)
c.681C>G
c.703C>G (p.Pro235Ala)
c.706C>G (p.Pro236Ala)
c.5-12631C>G (n.5-12631C>G)
c.-43-2061C>G (n.-43-2061C>G)
c.-98-26392C>G (n.-98-26392C>G)
n.281C>G
n.4526C>G
n.4567C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076582G=CA2260775529BRCA1c.4387C= (p.Pro1463=)
c.4390C= (p.Pro1464=)
c.4264C= (p.Pro1422=)
c.4384C= (p.Pro1462=)
c.4312C= (p.Pro1438=)
c.1078C= (p.Pro360=)
c.940C= (p.Pro314=)
c.3502C= (p.Pro1168=)
c.4267C= (p.Pro1423=)
c.4456C= (p.Pro1486=)
c.4249C= (p.Pro1417=)
c.952C= (p.Pro318=)
c.997C= (p.Pro333=)
c.4453C= (p.Pro1485=)
c.777C=
c.964C= (p.Pro322=)
c.*4173C= (n.*4173C=)
c.681C=
c.703C= (p.Pro235=)
c.706C= (p.Pro236=)
c.5-12631C= (n.5-12631C=)
c.-43-2061C= (n.-43-2061C=)
c.-98-26392C= (n.-98-26392C=)
n.281C=
n.4526C=
n.4567C=
17g.43076582G>TCA10592758BRCA1c.4387C>A (p.Pro1463Thr)
c.4390C>A (p.Pro1464Thr)
c.4264C>A (p.Pro1422Thr)
c.4384C>A (p.Pro1462Thr)
c.4312C>A (p.Pro1438Thr)
c.1078C>A (p.Pro360Thr)
c.940C>A (p.Pro314Thr)
c.3502C>A (p.Pro1168Thr)
c.4267C>A (p.Pro1423Thr)
c.4456C>A (p.Pro1486Thr)
c.4249C>A (p.Pro1417Thr)
c.952C>A (p.Pro318Thr)
c.997C>A (p.Pro333Thr)
c.4453C>A (p.Pro1485Thr)
c.777C>A
c.964C>A (p.Pro322Thr)
c.*4173C>A (n.*4173C>A)
c.681C>A
c.703C>A (p.Pro235Thr)
c.706C>A (p.Pro236Thr)
c.5-12631C>A (n.5-12631C>A)
c.-43-2061C>A (n.-43-2061C>A)
c.-98-26392C>A (n.-98-26392C>A)
n.281C>A
n.4526C>A
n.4567C>A
 ClinVar dbSNP
17g.43076582_43076599delinsGGTATTCACTACTTTTCTCA2260775528BRCA1c.4370_4387delinsAGAAAAGTAGTGAATACC (p.Gln1457=)
c.4373_4390delinsAGAAAAGTAGTGAATACC (p.Gln1458=)
c.4247_4264delinsAGAAAAGTAGTGAATACC (p.Gln1416=)
c.4367_4384delinsAGAAAAGTAGTGAATACC (p.Gln1456=)
c.4295_4312delinsAGAAAAGTAGTGAATACC (p.Gln1432=)
c.1061_1078delinsAGAAAAGTAGTGAATACC (p.Gln354=)
c.923_940delinsAGAAAAGTAGTGAATACC (p.Gln308=)
c.3485_3502delinsAGAAAAGTAGTGAATACC (p.Gln1162=)
c.4250_4267delinsAGAAAAGTAGTGAATACC (p.Gln1417=)
c.4439_4456delinsAGAAAAGTAGTGAATACC (p.Gln1480=)
c.4232_4249delinsAGAAAAGTAGTGAATACC (p.Gln1411=)
c.935_952delinsAGAAAAGTAGTGAATACC (p.Gln312=)
c.980_997delinsAGAAAAGTAGTGAATACC (p.Gln327=)
c.4436_4453delinsAGAAAAGTAGTGAATACC (p.Gln1479=)
c.760_777delinsAGAAAAGTAGTGAATACC
c.947_964delinsAGAAAAGTAGTGAATACC (p.Gln316=)
c.*4156_*4173delinsAGAAAAGTAGTGAATACC (n.*4156_*4173delinsAGAAAAGTAGTGAATACC)
c.664_681delinsAGAAAAGTAGTGAATACC
c.686_703delinsAGAAAAGTAGTGAATACC (p.Gln229=)
c.689_706delinsAGAAAAGTAGTGAATACC (p.Gln230=)
c.5-12648_5-12631delinsAGAAAAGTAGTGAATACC (n.5-12648_5-12631delinsAGAAAAGTAGTGAATACC)
c.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC (n.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC)
c.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC (n.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC)
n.264_281delinsAGAAAAGTAGTGAATACC
n.4509_4526delinsAGAAAAGTAGTGAATACC
n.4550_4567delinsAGAAAAGTAGTGAATACC
17g.43076583G>ACA060200BRCA1c.4386C>T (p.Tyr1462=)
c.4389C>T (p.Tyr1463=)
c.4263C>T (p.Tyr1421=)
c.4383C>T (p.Tyr1461=)
c.4311C>T (p.Tyr1437=)
c.1077C>T (p.Tyr359=)
c.939C>T (p.Tyr313=)
c.3501C>T (p.Tyr1167=)
c.4266C>T (p.Tyr1422=)
c.4455C>T (p.Tyr1485=)
c.4248C>T (p.Tyr1416=)
c.951C>T (p.Tyr317=)
c.996C>T (p.Tyr332=)
c.4452C>T (p.Tyr1484=)
c.776C>T
c.963C>T (p.Tyr321=)
c.*4172C>T (n.*4172C>T)
c.680C>T
c.702C>T (p.Tyr234=)
c.705C>T (p.Tyr235=)
c.5-12632C>T (n.5-12632C>T)
c.-43-2062C>T (n.-43-2062C>T)
c.-98-26393C>T (n.-98-26393C>T)
n.280C>T
n.4525C>T
n.4566C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076583G>CCA002814BRCA1c.4386C>G (p.Tyr1462Ter)
c.4389C>G (p.Tyr1463Ter)
c.4263C>G (p.Tyr1421Ter)
c.4383C>G (p.Tyr1461Ter)
c.4311C>G (p.Tyr1437Ter)
c.1077C>G (p.Tyr359Ter)
c.939C>G (p.Tyr313Ter)
c.3501C>G (p.Tyr1167Ter)
c.4266C>G (p.Tyr1422Ter)
c.4455C>G (p.Tyr1485Ter)
c.4248C>G (p.Tyr1416Ter)
c.951C>G (p.Tyr317Ter)
c.996C>G (p.Tyr332Ter)
c.4452C>G (p.Tyr1484Ter)
c.776C>G
c.963C>G (p.Tyr321Ter)
c.*4172C>G (n.*4172C>G)
c.680C>G
c.702C>G (p.Tyr234Ter)
c.705C>G (p.Tyr235Ter)
c.5-12632C>G (n.5-12632C>G)
c.-43-2062C>G (n.-43-2062C>G)
c.-98-26393C>G (n.-98-26393C>G)
n.280C>G
n.4525C>G
n.4566C>G
 ClinVar dbSNP
17g.43076583G=CA2260775530BRCA1c.4386C= (p.Tyr1462=)
c.4389C= (p.Tyr1463=)
c.4263C= (p.Tyr1421=)
c.4383C= (p.Tyr1461=)
c.4311C= (p.Tyr1437=)
c.1077C= (p.Tyr359=)
c.939C= (p.Tyr313=)
c.3501C= (p.Tyr1167=)
c.4266C= (p.Tyr1422=)
c.4455C= (p.Tyr1485=)
c.4248C= (p.Tyr1416=)
c.951C= (p.Tyr317=)
c.996C= (p.Tyr332=)
c.4452C= (p.Tyr1484=)
c.776C=
c.963C= (p.Tyr321=)
c.*4172C= (n.*4172C=)
c.680C=
c.702C= (p.Tyr234=)
c.705C= (p.Tyr235=)
c.5-12632C= (n.5-12632C=)
c.-43-2062C= (n.-43-2062C=)
c.-98-26393C= (n.-98-26393C=)
n.280C=
n.4525C=
n.4566C=
17g.43076583G>TCA002813BRCA1c.4386C>A (p.Tyr1462Ter)
c.4389C>A (p.Tyr1463Ter)
c.4263C>A (p.Tyr1421Ter)
c.4383C>A (p.Tyr1461Ter)
c.4311C>A (p.Tyr1437Ter)
c.1077C>A (p.Tyr359Ter)
c.939C>A (p.Tyr313Ter)
c.3501C>A (p.Tyr1167Ter)
c.4266C>A (p.Tyr1422Ter)
c.4455C>A (p.Tyr1485Ter)
c.4248C>A (p.Tyr1416Ter)
c.951C>A (p.Tyr317Ter)
c.996C>A (p.Tyr332Ter)
c.4452C>A (p.Tyr1484Ter)
c.776C>A
c.963C>A (p.Tyr321Ter)
c.*4172C>A (n.*4172C>A)
c.680C>A
c.702C>A (p.Tyr234Ter)
c.705C>A (p.Tyr235Ter)
c.5-12632C>A (n.5-12632C>A)
c.-43-2062C>A (n.-43-2062C>A)
c.-98-26393C>A (n.-98-26393C>A)
n.280C>A
n.4525C>A
n.4566C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076585_43076601delCA002804BRCA1c.4370_4386del (p.Gln1457ProfsTer12)
c.4373_4389del (p.Gln1458ProfsTer12)
c.4247_4263del (p.Gln1416ProfsTer12)
c.4367_4383del (p.Gln1456ProfsTer12)
c.4295_4311del (p.Gln1432ProfsTer12)
c.1061_1077del (p.Gln354ProfsTer12)
c.923_939del (p.Gln308ProfsTer12)
c.3485_3501del (p.Gln1162ProfsTer12)
c.4250_4266del (p.Gln1417ProfsTer12)
c.4439_4455del (p.Gln1480ProfsTer12)
c.4232_4248del (p.Gln1411ProfsTer12)
c.935_951del (p.Gln312ProfsTer12)
c.980_996del (p.Gln327ProfsTer12)
c.4436_4452del (p.Gln1479ProfsTer12)
c.760_776del
c.947_963del (p.Gln316ProfsTer12)
c.*4156_*4172del (n.*4156_*4172del)
c.664_680del
c.686_702del (p.Gln229ProfsTer12)
c.689_705del (p.Gln230ProfsTer12)
c.5-12648_5-12632del (n.5-12648_5-12632del)
c.-43-2078_-43-2062del (n.-43-2078_-43-2062del)
c.-98-26409_-98-26393del (n.-98-26409_-98-26393del)
n.264_280del
n.4509_4525del
n.4550_4566del
 ClinVar dbSNP
17g.43076584T>ACA10592759BRCA1c.4385A>T (p.Tyr1462Phe)
c.4388A>T (p.Tyr1463Phe)
c.4262A>T (p.Tyr1421Phe)
c.4382A>T (p.Tyr1461Phe)
c.4310A>T (p.Tyr1437Phe)
c.1076A>T (p.Tyr359Phe)
c.938A>T (p.Tyr313Phe)
c.3500A>T (p.Tyr1167Phe)
c.4265A>T (p.Tyr1422Phe)
c.4454A>T (p.Tyr1485Phe)
c.4247A>T (p.Tyr1416Phe)
c.950A>T (p.Tyr317Phe)
c.995A>T (p.Tyr332Phe)
c.4451A>T (p.Tyr1484Phe)
c.775A>T
c.962A>T (p.Tyr321Phe)
c.*4171A>T (n.*4171A>T)
c.679A>T
c.701A>T (p.Tyr234Phe)
c.704A>T (p.Tyr235Phe)
c.5-12633A>T (n.5-12633A>T)
c.-43-2063A>T (n.-43-2063A>T)
c.-98-26394A>T (n.-98-26394A>T)
n.279A>T
n.4524A>T
n.4565A>T
 ClinVar dbSNP
17g.43076584T>CCA10592760BRCA1c.4385A>G (p.Tyr1462Cys)
c.4388A>G (p.Tyr1463Cys)
c.4262A>G (p.Tyr1421Cys)
c.4382A>G (p.Tyr1461Cys)
c.4310A>G (p.Tyr1437Cys)
c.1076A>G (p.Tyr359Cys)
c.938A>G (p.Tyr313Cys)
c.3500A>G (p.Tyr1167Cys)
c.4265A>G (p.Tyr1422Cys)
c.4454A>G (p.Tyr1485Cys)
c.4247A>G (p.Tyr1416Cys)
c.950A>G (p.Tyr317Cys)
c.995A>G (p.Tyr332Cys)
c.4451A>G (p.Tyr1484Cys)
c.775A>G
c.962A>G (p.Tyr321Cys)
c.*4171A>G (n.*4171A>G)
c.679A>G
c.701A>G (p.Tyr234Cys)
c.704A>G (p.Tyr235Cys)
c.5-12633A>G (n.5-12633A>G)
c.-43-2063A>G (n.-43-2063A>G)
c.-98-26394A>G (n.-98-26394A>G)
n.279A>G
n.4524A>G
n.4565A>G
17g.43076584T>GCA10592761BRCA1c.4385A>C (p.Tyr1462Ser)
c.4388A>C (p.Tyr1463Ser)
c.4262A>C (p.Tyr1421Ser)
c.4382A>C (p.Tyr1461Ser)
c.4310A>C (p.Tyr1437Ser)
c.1076A>C (p.Tyr359Ser)
c.938A>C (p.Tyr313Ser)
c.3500A>C (p.Tyr1167Ser)
c.4265A>C (p.Tyr1422Ser)
c.4454A>C (p.Tyr1485Ser)
c.4247A>C (p.Tyr1416Ser)
c.950A>C (p.Tyr317Ser)
c.995A>C (p.Tyr332Ser)
c.4451A>C (p.Tyr1484Ser)
c.775A>C
c.962A>C (p.Tyr321Ser)
c.*4171A>C (n.*4171A>C)
c.679A>C
c.701A>C (p.Tyr234Ser)
c.704A>C (p.Tyr235Ser)
c.5-12633A>C (n.5-12633A>C)
c.-43-2063A>C (n.-43-2063A>C)
c.-98-26394A>C (n.-98-26394A>C)
n.279A>C
n.4524A>C
n.4565A>C
 dbSNP
17g.43076584T=CA2260775532BRCA1c.4385A= (p.Tyr1462=)
c.4388A= (p.Tyr1463=)
c.4262A= (p.Tyr1421=)
c.4382A= (p.Tyr1461=)
c.4310A= (p.Tyr1437=)
c.1076A= (p.Tyr359=)
c.938A= (p.Tyr313=)
c.3500A= (p.Tyr1167=)
c.4265A= (p.Tyr1422=)
c.4454A= (p.Tyr1485=)
c.4247A= (p.Tyr1416=)
c.950A= (p.Tyr317=)
c.995A= (p.Tyr332=)
c.4451A= (p.Tyr1484=)
c.775A=
c.962A= (p.Tyr321=)
c.*4171A= (n.*4171A=)
c.679A=
c.701A= (p.Tyr234=)
c.704A= (p.Tyr235=)
c.5-12633A= (n.5-12633A=)
c.-43-2063A= (n.-43-2063A=)
c.-98-26394A= (n.-98-26394A=)
n.279A=
n.4524A=
n.4565A=
17g.43076584_43076585delinsTACA2260775531BRCA1c.4384_4385delinsTA (p.Tyr1462=)
c.4387_4388delinsTA (p.Tyr1463=)
c.4261_4262delinsTA (p.Tyr1421=)
c.4381_4382delinsTA (p.Tyr1461=)
c.4309_4310delinsTA (p.Tyr1437=)
c.1075_1076delinsTA (p.Tyr359=)
c.937_938delinsTA (p.Tyr313=)
c.3499_3500delinsTA (p.Tyr1167=)
c.4264_4265delinsTA (p.Tyr1422=)
c.4453_4454delinsTA (p.Tyr1485=)
c.4246_4247delinsTA (p.Tyr1416=)
c.949_950delinsTA (p.Tyr317=)
c.994_995delinsTA (p.Tyr332=)
c.4450_4451delinsTA (p.Tyr1484=)
c.774_775delinsTA
c.961_962delinsTA (p.Tyr321=)
c.*4170_*4171delinsTA (n.*4170_*4171delinsTA)
c.678_679delinsTA
c.700_701delinsTA (p.Tyr234=)
c.703_704delinsTA (p.Tyr235=)
c.5-12634_5-12633delinsTA (n.5-12634_5-12633delinsTA)
c.-43-2064_-43-2063delinsTA (n.-43-2064_-43-2063delinsTA)
c.-98-26395_-98-26394delinsTA (n.-98-26395_-98-26394delinsTA)
n.278_279delinsTA
n.4523_4524delinsTA
n.4564_4565delinsTA
17g.43076585_43076587dupCA919844319BRCA1c.4383_4385dup (p.Tyr1462Ter)
c.4386_4388dup (p.Tyr1463Ter)
c.4260_4262dup (p.Tyr1421Ter)
c.4380_4382dup (p.Tyr1461Ter)
c.4308_4310dup (p.Tyr1437Ter)
c.1074_1076dup (p.Tyr359Ter)
c.936_938dup (p.Tyr313Ter)
c.3498_3500dup (p.Tyr1167Ter)
c.4263_4265dup (p.Tyr1422Ter)
c.4452_4454dup (p.Tyr1485Ter)
c.4245_4247dup (p.Tyr1416Ter)
c.948_950dup (p.Tyr317Ter)
c.993_995dup (p.Tyr332Ter)
c.4449_4451dup (p.Tyr1484Ter)
c.773_775dup
c.960_962dup (p.Tyr321Ter)
c.*4169_*4171dup (n.*4169_*4171dup)
c.677_679dup
c.699_701dup (p.Tyr234Ter)
c.702_704dup (p.Tyr235Ter)
c.5-12635_5-12633dup (n.5-12635_5-12633dup)
c.-43-2065_-43-2063dup (n.-43-2065_-43-2063dup)
c.-98-26396_-98-26394dup (n.-98-26396_-98-26394dup)
n.277_279dup
n.4522_4524dup
n.4563_4565dup
 dbSNP
17g.43076586_43076592dupCA891844424BRCA1c.4379_4385dup (p.Tyr1462Ter)
c.4382_4388dup (p.Tyr1463Ter)
c.4256_4262dup (p.Tyr1421Ter)
c.4376_4382dup (p.Tyr1461Ter)
c.4304_4310dup (p.Tyr1437Ter)
c.1070_1076dup (p.Tyr359Ter)
c.932_938dup (p.Tyr313Ter)
c.3494_3500dup (p.Tyr1167Ter)
c.4259_4265dup (p.Tyr1422Ter)
c.4448_4454dup (p.Tyr1485Ter)
c.4241_4247dup (p.Tyr1416Ter)
c.944_950dup (p.Tyr317Ter)
c.989_995dup (p.Tyr332Ter)
c.4445_4451dup (p.Tyr1484Ter)
c.769_775dup
c.956_962dup (p.Tyr321Ter)
c.*4165_*4171dup (n.*4165_*4171dup)
c.673_679dup
c.695_701dup (p.Tyr234Ter)
c.698_704dup (p.Tyr235Ter)
c.5-12639_5-12633dup (n.5-12639_5-12633dup)
c.-43-2069_-43-2063dup (n.-43-2069_-43-2063dup)
c.-98-26400_-98-26394dup (n.-98-26400_-98-26394dup)
n.273_279dup
n.4518_4524dup
n.4559_4565dup
 ClinVar dbSNP
17g.43076585delCA002812BRCA1c.4384del (p.Tyr1462ThrfsTer3)
c.4387del (p.Tyr1463ThrfsTer3)
c.4261del (p.Tyr1421ThrfsTer3)
c.4381del (p.Tyr1461ThrfsTer3)
c.4309del (p.Tyr1437ThrfsTer3)
c.1075del (p.Tyr359ThrfsTer3)
c.937del (p.Tyr313ThrfsTer3)
c.3499del (p.Tyr1167ThrfsTer3)
c.4264del (p.Tyr1422ThrfsTer3)
c.4453del (p.Tyr1485ThrfsTer3)
c.4246del (p.Tyr1416ThrfsTer3)
c.949del (p.Tyr317ThrfsTer3)
c.994del (p.Tyr332ThrfsTer3)
c.4450del (p.Tyr1484ThrfsTer3)
c.774del
c.961del (p.Tyr321ThrfsTer3)
c.*4170del (n.*4170del)
c.678del
c.700del (p.Tyr234ThrfsTer3)
c.703del (p.Tyr235ThrfsTer3)
c.5-12634del (n.5-12634del)
c.-43-2064del (n.-43-2064del)
c.-98-26395del (n.-98-26395del)
n.278del
n.4523del
n.4564del
 ClinVar dbSNP
17g.43076585A=CA2260775533BRCA1c.4384T= (p.Tyr1462=)
c.4387T= (p.Tyr1463=)
c.4261T= (p.Tyr1421=)
c.4381T= (p.Tyr1461=)
c.4309T= (p.Tyr1437=)
c.1075T= (p.Tyr359=)
c.937T= (p.Tyr313=)
c.3499T= (p.Tyr1167=)
c.4264T= (p.Tyr1422=)
c.4453T= (p.Tyr1485=)
c.4246T= (p.Tyr1416=)
c.949T= (p.Tyr317=)
c.994T= (p.Tyr332=)
c.4450T= (p.Tyr1484=)
c.774T=
c.961T= (p.Tyr321=)
c.*4170T= (n.*4170T=)
c.678T=
c.700T= (p.Tyr234=)
c.703T= (p.Tyr235=)
c.5-12634T= (n.5-12634T=)
c.-43-2064T= (n.-43-2064T=)
c.-98-26395T= (n.-98-26395T=)
n.278T=
n.4523T=
n.4564T=
17g.43076585A>CCA10592762BRCA1c.4384T>G (p.Tyr1462Asp)
c.4387T>G (p.Tyr1463Asp)
c.4261T>G (p.Tyr1421Asp)
c.4381T>G (p.Tyr1461Asp)
c.4309T>G (p.Tyr1437Asp)
c.1075T>G (p.Tyr359Asp)
c.937T>G (p.Tyr313Asp)
c.3499T>G (p.Tyr1167Asp)
c.4264T>G (p.Tyr1422Asp)
c.4453T>G (p.Tyr1485Asp)
c.4246T>G (p.Tyr1416Asp)
c.949T>G (p.Tyr317Asp)
c.994T>G (p.Tyr332Asp)
c.4450T>G (p.Tyr1484Asp)
c.774T>G
c.961T>G (p.Tyr321Asp)
c.*4170T>G (n.*4170T>G)
c.678T>G
c.700T>G (p.Tyr234Asp)
c.703T>G (p.Tyr235Asp)
c.5-12634T>G (n.5-12634T>G)
c.-43-2064T>G (n.-43-2064T>G)
c.-98-26395T>G (n.-98-26395T>G)
n.278T>G
n.4523T>G
n.4564T>G
17g.43076585A>GCA10592763BRCA1c.4384T>C (p.Tyr1462His)
c.4387T>C (p.Tyr1463His)
c.4261T>C (p.Tyr1421His)
c.4381T>C (p.Tyr1461His)
c.4309T>C (p.Tyr1437His)
c.1075T>C (p.Tyr359His)
c.937T>C (p.Tyr313His)
c.3499T>C (p.Tyr1167His)
c.4264T>C (p.Tyr1422His)
c.4453T>C (p.Tyr1485His)
c.4246T>C (p.Tyr1416His)
c.949T>C (p.Tyr317His)
c.994T>C (p.Tyr332His)
c.4450T>C (p.Tyr1484His)
c.774T>C
c.961T>C (p.Tyr321His)
c.*4170T>C (n.*4170T>C)
c.678T>C
c.700T>C (p.Tyr234His)
c.703T>C (p.Tyr235His)
c.5-12634T>C (n.5-12634T>C)
c.-43-2064T>C (n.-43-2064T>C)
c.-98-26395T>C (n.-98-26395T>C)
n.278T>C
n.4523T>C
n.4564T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076585A>TCA10592764BRCA1c.4384T>A (p.Tyr1462Asn)
c.4387T>A (p.Tyr1463Asn)
c.4261T>A (p.Tyr1421Asn)
c.4381T>A (p.Tyr1461Asn)
c.4309T>A (p.Tyr1437Asn)
c.1075T>A (p.Tyr359Asn)
c.937T>A (p.Tyr313Asn)
c.3499T>A (p.Tyr1167Asn)
c.4264T>A (p.Tyr1422Asn)
c.4453T>A (p.Tyr1485Asn)
c.4246T>A (p.Tyr1416Asn)
c.949T>A (p.Tyr317Asn)
c.994T>A (p.Tyr332Asn)
c.4450T>A (p.Tyr1484Asn)
c.774T>A
c.961T>A (p.Tyr321Asn)
c.*4170T>A (n.*4170T>A)
c.678T>A
c.700T>A (p.Tyr234Asn)
c.703T>A (p.Tyr235Asn)
c.5-12634T>A (n.5-12634T>A)
c.-43-2064T>A (n.-43-2064T>A)
c.-98-26395T>A (n.-98-26395T>A)
n.278T>A
n.4523T>A
n.4564T>A
 ClinVar dbSNP
17g.43076586T>ACA10592765BRCA1c.4383A>T (p.Glu1461Asp)
c.4386A>T (p.Glu1462Asp)
c.4260A>T (p.Glu1420Asp)
c.4380A>T (p.Glu1460Asp)
c.4308A>T (p.Glu1436Asp)
c.1074A>T (p.Glu358Asp)
c.936A>T (p.Glu312Asp)
c.3498A>T (p.Glu1166Asp)
c.4263A>T (p.Glu1421Asp)
c.4452A>T (p.Glu1484Asp)
c.4245A>T (p.Glu1415Asp)
c.948A>T (p.Glu316Asp)
c.993A>T (p.Glu331Asp)
c.4449A>T (p.Glu1483Asp)
c.773A>T
c.960A>T (p.Glu320Asp)
c.*4169A>T (n.*4169A>T)
c.677A>T
c.699A>T (p.Glu233Asp)
c.702A>T (p.Glu234Asp)
c.5-12635A>T (n.5-12635A>T)
c.-43-2065A>T (n.-43-2065A>T)
c.-98-26396A>T (n.-98-26396A>T)
n.277A>T
n.4522A>T
n.4563A>T
17g.43076586T>CCA500146856BRCA1c.4383A>G (p.Glu1461=)
c.4386A>G (p.Glu1462=)
c.4260A>G (p.Glu1420=)
c.4380A>G (p.Glu1460=)
c.4308A>G (p.Glu1436=)
c.1074A>G (p.Glu358=)
c.936A>G (p.Glu312=)
c.3498A>G (p.Glu1166=)
c.4263A>G (p.Glu1421=)
c.4452A>G (p.Glu1484=)
c.4245A>G (p.Glu1415=)
c.948A>G (p.Glu316=)
c.993A>G (p.Glu331=)
c.4449A>G (p.Glu1483=)
c.773A>G
c.960A>G (p.Glu320=)
c.*4169A>G (n.*4169A>G)
c.677A>G
c.699A>G (p.Glu233=)
c.702A>G (p.Glu234=)
c.5-12635A>G (n.5-12635A>G)
c.-43-2065A>G (n.-43-2065A>G)
c.-98-26396A>G (n.-98-26396A>G)
n.277A>G
n.4522A>G
n.4563A>G
 dbSNP gnomAD v4
17g.43076586T>GCA10592766BRCA1c.4383A>C (p.Glu1461Asp)
c.4386A>C (p.Glu1462Asp)
c.4260A>C (p.Glu1420Asp)
c.4380A>C (p.Glu1460Asp)
c.4308A>C (p.Glu1436Asp)
c.1074A>C (p.Glu358Asp)
c.936A>C (p.Glu312Asp)
c.3498A>C (p.Glu1166Asp)
c.4263A>C (p.Glu1421Asp)
c.4452A>C (p.Glu1484Asp)
c.4245A>C (p.Glu1415Asp)
c.948A>C (p.Glu316Asp)
c.993A>C (p.Glu331Asp)
c.4449A>C (p.Glu1483Asp)
c.773A>C
c.960A>C (p.Glu320Asp)
c.*4169A>C (n.*4169A>C)
c.677A>C
c.699A>C (p.Glu233Asp)
c.702A>C (p.Glu234Asp)
c.5-12635A>C (n.5-12635A>C)
c.-43-2065A>C (n.-43-2065A>C)
c.-98-26396A>C (n.-98-26396A>C)
n.277A>C
n.4522A>C
n.4563A>C
17g.43076586T=CA2260775534BRCA1c.4383A= (p.Glu1461=)
c.4386A= (p.Glu1462=)
c.4260A= (p.Glu1420=)
c.4380A= (p.Glu1460=)
c.4308A= (p.Glu1436=)
c.1074A= (p.Glu358=)
c.936A= (p.Glu312=)
c.3498A= (p.Glu1166=)
c.4263A= (p.Glu1421=)
c.4452A= (p.Glu1484=)
c.4245A= (p.Glu1415=)
c.948A= (p.Glu316=)
c.993A= (p.Glu331=)
c.4449A= (p.Glu1483=)
c.773A=
c.960A= (p.Glu320=)
c.*4169A= (n.*4169A=)
c.677A=
c.699A= (p.Glu233=)
c.702A= (p.Glu234=)
c.5-12635A= (n.5-12635A=)
c.-43-2065A= (n.-43-2065A=)
c.-98-26396A= (n.-98-26396A=)
n.277A=
n.4522A=
n.4563A=
17g.43076587dupCA273823BRCA1c.4383dup (p.Tyr1462IlefsTer13)
c.4386dup (p.Tyr1463IlefsTer13)
c.4260dup (p.Tyr1421IlefsTer13)
c.4380dup (p.Tyr1461IlefsTer13)
c.4308dup (p.Tyr1437IlefsTer13)
c.1074dup (p.Tyr359IlefsTer13)
c.936dup (p.Tyr313IlefsTer13)
c.3498dup (p.Tyr1167IlefsTer13)
c.4263dup (p.Tyr1422IlefsTer13)
c.4452dup (p.Tyr1485IlefsTer13)
c.4245dup (p.Tyr1416IlefsTer13)
c.948dup (p.Tyr317IlefsTer13)
c.993dup (p.Tyr332IlefsTer13)
c.4449dup (p.Tyr1484IlefsTer13)
c.773dup
c.960dup (p.Tyr321IlefsTer13)
c.*4169dup (n.*4169dup)
c.677dup
c.699dup (p.Tyr234IlefsTer13)
c.702dup (p.Tyr235IlefsTer13)
c.5-12635dup (n.5-12635dup)
c.-43-2065dup (n.-43-2065dup)
c.-98-26396dup (n.-98-26396dup)
n.277dup
n.4522dup
n.4563dup
 ClinVar dbSNP
17g.43076587delCA2695225927BRCA1c.4383del (p.Glu1461AspfsTer4)
c.4386del (p.Glu1462AspfsTer4)
c.4260del (p.Glu1420AspfsTer4)
c.4380del (p.Glu1460AspfsTer4)
c.4308del (p.Glu1436AspfsTer4)
c.1074del (p.Glu358AspfsTer4)
c.936del (p.Glu312AspfsTer4)
c.3498del (p.Glu1166AspfsTer4)
c.4263del (p.Glu1421AspfsTer4)
c.4452del (p.Glu1484AspfsTer4)
c.4245del (p.Glu1415AspfsTer4)
c.948del (p.Glu316AspfsTer4)
c.993del (p.Glu331AspfsTer4)
c.4449del (p.Glu1483AspfsTer4)
c.773del
c.960del (p.Glu320AspfsTer4)
c.*4169del (n.*4169del)
c.677del
c.699del (p.Glu233AspfsTer4)
c.702del (p.Glu234AspfsTer4)
c.5-12635del (n.5-12635del)
c.-43-2065del (n.-43-2065del)
c.-98-26396del (n.-98-26396del)
n.277del
n.4522del
n.4563del

Number of alleles fetched