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.43076497C>ACA10592580BRCA1c.4472G>T (p.Gly1491Val)
c.4475G>T (p.Gly1492Val)
c.4349G>T (p.Gly1450Val)
c.4469G>T (p.Gly1490Val)
c.4397G>T (p.Gly1466Val)
c.1163G>T (p.Gly388Val)
c.1025G>T (p.Gly342Val)
c.3587G>T (p.Gly1196Val)
c.4352G>T (p.Gly1451Val)
c.4541G>T (p.Gly1514Val)
c.4334G>T (p.Gly1445Val)
c.1037G>T (p.Gly346Val)
c.1082G>T (p.Gly361Val)
c.4538G>T (p.Gly1513Val)
c.862G>T
c.1049G>T (p.Gly350Val)
c.*4258G>T (n.*4258G>T)
c.788G>T (p.Gly263Val)
c.791G>T (p.Gly264Val)
c.5-12546G>T (n.5-12546G>T)
c.-43-1976G>T (n.-43-1976G>T)
c.-98-26307G>T (n.-98-26307G>T)
n.366G>T
n.4611G>T
n.4652G>T
 ClinVar dbSNP
17g.43076497C=CA2260775449BRCA1c.4472G= (p.Gly1491=)
c.4475G= (p.Gly1492=)
c.4349G= (p.Gly1450=)
c.4469G= (p.Gly1490=)
c.4397G= (p.Gly1466=)
c.1163G= (p.Gly388=)
c.1025G= (p.Gly342=)
c.3587G= (p.Gly1196=)
c.4352G= (p.Gly1451=)
c.4541G= (p.Gly1514=)
c.4334G= (p.Gly1445=)
c.1037G= (p.Gly346=)
c.1082G= (p.Gly361=)
c.4538G= (p.Gly1513=)
c.862G=
c.1049G= (p.Gly350=)
c.*4258G= (n.*4258G=)
c.788G= (p.Gly263=)
c.791G= (p.Gly264=)
c.5-12546G= (n.5-12546G=)
c.-43-1976G= (n.-43-1976G=)
c.-98-26307G= (n.-98-26307G=)
n.366G=
n.4611G=
n.4652G=
17g.43076497C>GCA10592581BRCA1c.4472G>C (p.Gly1491Ala)
c.4475G>C (p.Gly1492Ala)
c.4349G>C (p.Gly1450Ala)
c.4469G>C (p.Gly1490Ala)
c.4397G>C (p.Gly1466Ala)
c.1163G>C (p.Gly388Ala)
c.1025G>C (p.Gly342Ala)
c.3587G>C (p.Gly1196Ala)
c.4352G>C (p.Gly1451Ala)
c.4541G>C (p.Gly1514Ala)
c.4334G>C (p.Gly1445Ala)
c.1037G>C (p.Gly346Ala)
c.1082G>C (p.Gly361Ala)
c.4538G>C (p.Gly1513Ala)
c.862G>C
c.1049G>C (p.Gly350Ala)
c.*4258G>C (n.*4258G>C)
c.788G>C (p.Gly263Ala)
c.791G>C (p.Gly264Ala)
c.5-12546G>C (n.5-12546G>C)
c.-43-1976G>C (n.-43-1976G>C)
c.-98-26307G>C (n.-98-26307G>C)
n.366G>C
n.4611G>C
n.4652G>C
17g.43076497C>TCA10592582BRCA1c.4472G>A (p.Gly1491Glu)
c.4475G>A (p.Gly1492Glu)
c.4349G>A (p.Gly1450Glu)
c.4469G>A (p.Gly1490Glu)
c.4397G>A (p.Gly1466Glu)
c.1163G>A (p.Gly388Glu)
c.1025G>A (p.Gly342Glu)
c.3587G>A (p.Gly1196Glu)
c.4352G>A (p.Gly1451Glu)
c.4541G>A (p.Gly1514Glu)
c.4334G>A (p.Gly1445Glu)
c.1037G>A (p.Gly346Glu)
c.1082G>A (p.Gly361Glu)
c.4538G>A (p.Gly1513Glu)
c.862G>A
c.1049G>A (p.Gly350Glu)
c.*4258G>A (n.*4258G>A)
c.788G>A (p.Gly263Glu)
c.791G>A (p.Gly264Glu)
c.5-12546G>A (n.5-12546G>A)
c.-43-1976G>A (n.-43-1976G>A)
c.-98-26307G>A (n.-98-26307G>A)
n.366G>A
n.4611G>A
n.4652G>A
 ClinVar dbSNP
17g.43076497_43076519delinsCCTGGTTCTTTATTTTTACTGGTCA2260775448BRCA1c.4450_4472delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1484=)
c.4453_4475delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1485=)
c.4327_4349delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1443=)
c.4447_4469delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1483=)
c.4375_4397delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1459=)
c.1141_1163delinsACCAGTAAAAATAAAGAACCAGG (p.Thr381=)
c.1003_1025delinsACCAGTAAAAATAAAGAACCAGG (p.Thr335=)
c.3565_3587delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1189=)
c.4330_4352delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1444=)
c.4519_4541delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1507=)
c.4312_4334delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1438=)
c.1015_1037delinsACCAGTAAAAATAAAGAACCAGG (p.Thr339=)
c.1060_1082delinsACCAGTAAAAATAAAGAACCAGG (p.Thr354=)
c.4516_4538delinsACCAGTAAAAATAAAGAACCAGG (p.Thr1506=)
c.840_862delinsACCAGTAAAAATAAAGAACCAGG
c.1027_1049delinsACCAGTAAAAATAAAGAACCAGG (p.Thr343=)
c.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG (n.*4236_*4258delinsACCAGTAAAAATAAAGAACCAGG)
c.766_788delinsACCAGTAAAAATAAAGAACCAGG (p.Thr256=)
c.769_791delinsACCAGTAAAAATAAAGAACCAGG (p.Thr257=)
c.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG (n.5-12568_5-12546delinsACCAGTAAAAATAAAGAACCAGG)
c.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG (n.-43-1998_-43-1976delinsACCAGTAAAAATAAAGAACCAGG)
c.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG (n.-98-26329_-98-26307delinsACCAGTAAAAATAAAGAACCAGG)
n.344_366delinsACCAGTAAAAATAAAGAACCAGG
n.4589_4611delinsACCAGTAAAAATAAAGAACCAGG
n.4630_4652delinsACCAGTAAAAATAAAGAACCAGG
17g.43076498C>ACA337710BRCA1c.4471G>T (p.Gly1491Ter)
c.4474G>T (p.Gly1492Ter)
c.4348G>T (p.Gly1450Ter)
c.4468G>T (p.Gly1490Ter)
c.4396G>T (p.Gly1466Ter)
c.1162G>T (p.Gly388Ter)
c.1024G>T (p.Gly342Ter)
c.3586G>T (p.Gly1196Ter)
c.4351G>T (p.Gly1451Ter)
c.4540G>T (p.Gly1514Ter)
c.4333G>T (p.Gly1445Ter)
c.1036G>T (p.Gly346Ter)
c.1081G>T (p.Gly361Ter)
c.4537G>T (p.Gly1513Ter)
c.861G>T
c.1048G>T (p.Gly350Ter)
c.*4257G>T (n.*4257G>T)
c.787G>T (p.Gly263Ter)
c.790G>T (p.Gly264Ter)
c.5-12547G>T (n.5-12547G>T)
c.-43-1977G>T (n.-43-1977G>T)
c.-98-26308G>T (n.-98-26308G>T)
n.365G>T
n.4610G>T
n.4651G>T
 ClinVar dbSNP
17g.43076498C=CA2260775450BRCA1c.4471G= (p.Gly1491=)
c.4474G= (p.Gly1492=)
c.4348G= (p.Gly1450=)
c.4468G= (p.Gly1490=)
c.4396G= (p.Gly1466=)
c.1162G= (p.Gly388=)
c.1024G= (p.Gly342=)
c.3586G= (p.Gly1196=)
c.4351G= (p.Gly1451=)
c.4540G= (p.Gly1514=)
c.4333G= (p.Gly1445=)
c.1036G= (p.Gly346=)
c.1081G= (p.Gly361=)
c.4537G= (p.Gly1513=)
c.861G=
c.1048G= (p.Gly350=)
c.*4257G= (n.*4257G=)
c.787G= (p.Gly263=)
c.790G= (p.Gly264=)
c.5-12547G= (n.5-12547G=)
c.-43-1977G= (n.-43-1977G=)
c.-98-26308G= (n.-98-26308G=)
n.365G=
n.4610G=
n.4651G=
17g.43076498C>GCA10592583BRCA1c.4471G>C (p.Gly1491Arg)
c.4474G>C (p.Gly1492Arg)
c.4348G>C (p.Gly1450Arg)
c.4468G>C (p.Gly1490Arg)
c.4396G>C (p.Gly1466Arg)
c.1162G>C (p.Gly388Arg)
c.1024G>C (p.Gly342Arg)
c.3586G>C (p.Gly1196Arg)
c.4351G>C (p.Gly1451Arg)
c.4540G>C (p.Gly1514Arg)
c.4333G>C (p.Gly1445Arg)
c.1036G>C (p.Gly346Arg)
c.1081G>C (p.Gly361Arg)
c.4537G>C (p.Gly1513Arg)
c.861G>C
c.1048G>C (p.Gly350Arg)
c.*4257G>C (n.*4257G>C)
c.787G>C (p.Gly263Arg)
c.790G>C (p.Gly264Arg)
c.5-12547G>C (n.5-12547G>C)
c.-43-1977G>C (n.-43-1977G>C)
c.-98-26308G>C (n.-98-26308G>C)
n.365G>C
n.4610G>C
n.4651G>C
 dbSNP
17g.43076498C>TCA10592584BRCA1c.4471G>A (p.Gly1491Arg)
c.4474G>A (p.Gly1492Arg)
c.4348G>A (p.Gly1450Arg)
c.4468G>A (p.Gly1490Arg)
c.4396G>A (p.Gly1466Arg)
c.1162G>A (p.Gly388Arg)
c.1024G>A (p.Gly342Arg)
c.3586G>A (p.Gly1196Arg)
c.4351G>A (p.Gly1451Arg)
c.4540G>A (p.Gly1514Arg)
c.4333G>A (p.Gly1445Arg)
c.1036G>A (p.Gly346Arg)
c.1081G>A (p.Gly361Arg)
c.4537G>A (p.Gly1513Arg)
c.861G>A
c.1048G>A (p.Gly350Arg)
c.*4257G>A (n.*4257G>A)
c.787G>A (p.Gly263Arg)
c.790G>A (p.Gly264Arg)
c.5-12547G>A (n.5-12547G>A)
c.-43-1977G>A (n.-43-1977G>A)
c.-98-26308G>A (n.-98-26308G>A)
n.365G>A
n.4610G>A
n.4651G>A
 ClinVar dbSNP
17g.43076498_43076519delCA10589662BRCA1c.4450_4471del (p.Thr1484GlufsTer13)
c.4453_4474del (p.Thr1485GlufsTer13)
c.4327_4348del (p.Thr1443GlufsTer13)
c.4447_4468del (p.Thr1483GlufsTer13)
c.4375_4396del (p.Thr1459GlufsTer13)
c.1141_1162del (p.Thr381GlufsTer13)
c.1003_1024del (p.Thr335GlufsTer13)
c.3565_3586del (p.Thr1189GlufsTer13)
c.4330_4351del (p.Thr1444GlufsTer13)
c.4519_4540del (p.Thr1507GlufsTer13)
c.4312_4333del (p.Thr1438GlufsTer13)
c.1015_1036del (p.Thr339GlufsTer13)
c.1060_1081del (p.Thr354GlufsTer13)
c.4516_4537del (p.Thr1506GlufsTer13)
c.840_861del
c.1027_1048del (p.Thr343GlufsTer13)
c.*4236_*4257del (n.*4236_*4257del)
c.766_787del (p.Thr256GlufsTer13)
c.769_790del (p.Thr257GlufsTer?)
c.5-12568_5-12547del (n.5-12568_5-12547del)
c.-43-1998_-43-1977del (n.-43-1998_-43-1977del)
c.-98-26329_-98-26308del (n.-98-26329_-98-26308del)
n.344_365del
n.4589_4610del
n.4630_4651del
 ClinVar dbSNP
17g.43076499T>ACA500146783BRCA1c.4470A>T (p.Pro1490=)
c.4473A>T (p.Pro1491=)
c.4347A>T (p.Pro1449=)
c.4467A>T (p.Pro1489=)
c.4395A>T (p.Pro1465=)
c.1161A>T (p.Pro387=)
c.1023A>T (p.Pro341=)
c.3585A>T (p.Pro1195=)
c.4350A>T (p.Pro1450=)
c.4539A>T (p.Pro1513=)
c.4332A>T (p.Pro1444=)
c.1035A>T (p.Pro345=)
c.1080A>T (p.Pro360=)
c.4536A>T (p.Pro1512=)
c.860A>T
c.1047A>T (p.Pro349=)
c.*4256A>T (n.*4256A>T)
c.786A>T (p.Pro262=)
c.789A>T (p.Pro263=)
c.5-12548A>T (n.5-12548A>T)
c.-43-1978A>T (n.-43-1978A>T)
c.-98-26309A>T (n.-98-26309A>T)
n.364A>T
n.4609A>T
n.4650A>T
17g.43076499T>CCA500146784BRCA1c.4470A>G (p.Pro1490=)
c.4473A>G (p.Pro1491=)
c.4347A>G (p.Pro1449=)
c.4467A>G (p.Pro1489=)
c.4395A>G (p.Pro1465=)
c.1161A>G (p.Pro387=)
c.1023A>G (p.Pro341=)
c.3585A>G (p.Pro1195=)
c.4350A>G (p.Pro1450=)
c.4539A>G (p.Pro1513=)
c.4332A>G (p.Pro1444=)
c.1035A>G (p.Pro345=)
c.1080A>G (p.Pro360=)
c.4536A>G (p.Pro1512=)
c.860A>G
c.1047A>G (p.Pro349=)
c.*4256A>G (n.*4256A>G)
c.786A>G (p.Pro262=)
c.789A>G (p.Pro263=)
c.5-12548A>G (n.5-12548A>G)
c.-43-1978A>G (n.-43-1978A>G)
c.-98-26309A>G (n.-98-26309A>G)
n.364A>G
n.4609A>G
n.4650A>G
 ClinVar dbSNP
17g.43076499T>GCA500146785BRCA1c.4470A>C (p.Pro1490=)
c.4473A>C (p.Pro1491=)
c.4347A>C (p.Pro1449=)
c.4467A>C (p.Pro1489=)
c.4395A>C (p.Pro1465=)
c.1161A>C (p.Pro387=)
c.1023A>C (p.Pro341=)
c.3585A>C (p.Pro1195=)
c.4350A>C (p.Pro1450=)
c.4539A>C (p.Pro1513=)
c.4332A>C (p.Pro1444=)
c.1035A>C (p.Pro345=)
c.1080A>C (p.Pro360=)
c.4536A>C (p.Pro1512=)
c.860A>C
c.1047A>C (p.Pro349=)
c.*4256A>C (n.*4256A>C)
c.786A>C (p.Pro262=)
c.789A>C (p.Pro263=)
c.5-12548A>C (n.5-12548A>C)
c.-43-1978A>C (n.-43-1978A>C)
c.-98-26309A>C (n.-98-26309A>C)
n.364A>C
n.4609A>C
n.4650A>C
17g.43076500_43076503delCA2580094428BRCA1c.4467_4470del (p.Pro1490GlufsTer13)
c.4470_4473del (p.Pro1491GlufsTer13)
c.4344_4347del (p.Pro1449GlufsTer13)
c.4464_4467del (p.Pro1489GlufsTer13)
c.4392_4395del (p.Pro1465GlufsTer13)
c.1158_1161del (p.Pro387GlufsTer13)
c.1020_1023del (p.Pro341GlufsTer13)
c.3582_3585del (p.Pro1195GlufsTer13)
c.4347_4350del (p.Pro1450GlufsTer13)
c.4536_4539del (p.Pro1513GlufsTer13)
c.4329_4332del (p.Pro1444GlufsTer13)
c.1032_1035del (p.Pro345GlufsTer13)
c.1077_1080del (p.Pro360GlufsTer13)
c.4533_4536del (p.Pro1512GlufsTer13)
c.857_860del
c.1044_1047del (p.Pro349GlufsTer13)
c.*4253_*4256del (n.*4253_*4256del)
c.783_786del (p.Pro262GlufsTer13)
c.786_789del (p.Pro263GlufsTer?)
c.5-12551_5-12548del (n.5-12551_5-12548del)
c.-43-1981_-43-1978del (n.-43-1981_-43-1978del)
c.-98-26312_-98-26309del (n.-98-26312_-98-26309del)
n.361_364del
n.4606_4609del
n.4647_4650del
 ClinVar
17g.43076500G>ACA10592585BRCA1c.4469C>T (p.Pro1490Leu)
c.4472C>T (p.Pro1491Leu)
c.4346C>T (p.Pro1449Leu)
c.4466C>T (p.Pro1489Leu)
c.4394C>T (p.Pro1465Leu)
c.1160C>T (p.Pro387Leu)
c.1022C>T (p.Pro341Leu)
c.3584C>T (p.Pro1195Leu)
c.4349C>T (p.Pro1450Leu)
c.4538C>T (p.Pro1513Leu)
c.4331C>T (p.Pro1444Leu)
c.1034C>T (p.Pro345Leu)
c.1079C>T (p.Pro360Leu)
c.4535C>T (p.Pro1512Leu)
c.859C>T
c.1046C>T (p.Pro349Leu)
c.*4255C>T (n.*4255C>T)
c.785C>T (p.Pro262Leu)
c.788C>T (p.Pro263Leu)
c.5-12549C>T (n.5-12549C>T)
c.-43-1979C>T (n.-43-1979C>T)
c.-98-26310C>T (n.-98-26310C>T)
n.363C>T
n.4608C>T
n.4649C>T
 ClinVar dbSNP
17g.43076500G>CCA10592586BRCA1c.4469C>G (p.Pro1490Arg)
c.4472C>G (p.Pro1491Arg)
c.4346C>G (p.Pro1449Arg)
c.4466C>G (p.Pro1489Arg)
c.4394C>G (p.Pro1465Arg)
c.1160C>G (p.Pro387Arg)
c.1022C>G (p.Pro341Arg)
c.3584C>G (p.Pro1195Arg)
c.4349C>G (p.Pro1450Arg)
c.4538C>G (p.Pro1513Arg)
c.4331C>G (p.Pro1444Arg)
c.1034C>G (p.Pro345Arg)
c.1079C>G (p.Pro360Arg)
c.4535C>G (p.Pro1512Arg)
c.859C>G
c.1046C>G (p.Pro349Arg)
c.*4255C>G (n.*4255C>G)
c.785C>G (p.Pro262Arg)
c.788C>G (p.Pro263Arg)
c.5-12549C>G (n.5-12549C>G)
c.-43-1979C>G (n.-43-1979C>G)
c.-98-26310C>G (n.-98-26310C>G)
n.363C>G
n.4608C>G
n.4649C>G
 ClinVar dbSNP
17g.43076500G=CA2260775451BRCA1c.4469C= (p.Pro1490=)
c.4472C= (p.Pro1491=)
c.4346C= (p.Pro1449=)
c.4466C= (p.Pro1489=)
c.4394C= (p.Pro1465=)
c.1160C= (p.Pro387=)
c.1022C= (p.Pro341=)
c.3584C= (p.Pro1195=)
c.4349C= (p.Pro1450=)
c.4538C= (p.Pro1513=)
c.4331C= (p.Pro1444=)
c.1034C= (p.Pro345=)
c.1079C= (p.Pro360=)
c.4535C= (p.Pro1512=)
c.859C=
c.1046C= (p.Pro349=)
c.*4255C= (n.*4255C=)
c.785C= (p.Pro262=)
c.788C= (p.Pro263=)
c.5-12549C= (n.5-12549C=)
c.-43-1979C= (n.-43-1979C=)
c.-98-26310C= (n.-98-26310C=)
n.363C=
n.4608C=
n.4649C=
17g.43076500G>TCA10592587BRCA1c.4469C>A (p.Pro1490Gln)
c.4472C>A (p.Pro1491Gln)
c.4346C>A (p.Pro1449Gln)
c.4466C>A (p.Pro1489Gln)
c.4394C>A (p.Pro1465Gln)
c.1160C>A (p.Pro387Gln)
c.1022C>A (p.Pro341Gln)
c.3584C>A (p.Pro1195Gln)
c.4349C>A (p.Pro1450Gln)
c.4538C>A (p.Pro1513Gln)
c.4331C>A (p.Pro1444Gln)
c.1034C>A (p.Pro345Gln)
c.1079C>A (p.Pro360Gln)
c.4535C>A (p.Pro1512Gln)
c.859C>A
c.1046C>A (p.Pro349Gln)
c.*4255C>A (n.*4255C>A)
c.785C>A (p.Pro262Gln)
c.788C>A (p.Pro263Gln)
c.5-12549C>A (n.5-12549C>A)
c.-43-1979C>A (n.-43-1979C>A)
c.-98-26310C>A (n.-98-26310C>A)
n.363C>A
n.4608C>A
n.4649C>A
 dbSNP
17g.43076501G>ACA10592588BRCA1c.4468C>T (p.Pro1490Ser)
c.4471C>T (p.Pro1491Ser)
c.4345C>T (p.Pro1449Ser)
c.4465C>T (p.Pro1489Ser)
c.4393C>T (p.Pro1465Ser)
c.1159C>T (p.Pro387Ser)
c.1021C>T (p.Pro341Ser)
c.3583C>T (p.Pro1195Ser)
c.4348C>T (p.Pro1450Ser)
c.4537C>T (p.Pro1513Ser)
c.4330C>T (p.Pro1444Ser)
c.1033C>T (p.Pro345Ser)
c.1078C>T (p.Pro360Ser)
c.4534C>T (p.Pro1512Ser)
c.858C>T
c.1045C>T (p.Pro349Ser)
c.*4254C>T (n.*4254C>T)
c.784C>T (p.Pro262Ser)
c.787C>T (p.Pro263Ser)
c.5-12550C>T (n.5-12550C>T)
c.-43-1980C>T (n.-43-1980C>T)
c.-98-26311C>T (n.-98-26311C>T)
n.362C>T
n.4607C>T
n.4648C>T
 ClinVar dbSNP gnomAD v4
17g.43076501G>CCA002866BRCA1c.4468C>G (p.Pro1490Ala)
c.4471C>G (p.Pro1491Ala)
c.4345C>G (p.Pro1449Ala)
c.4465C>G (p.Pro1489Ala)
c.4393C>G (p.Pro1465Ala)
c.1159C>G (p.Pro387Ala)
c.1021C>G (p.Pro341Ala)
c.3583C>G (p.Pro1195Ala)
c.4348C>G (p.Pro1450Ala)
c.4537C>G (p.Pro1513Ala)
c.4330C>G (p.Pro1444Ala)
c.1033C>G (p.Pro345Ala)
c.1078C>G (p.Pro360Ala)
c.4534C>G (p.Pro1512Ala)
c.858C>G
c.1045C>G (p.Pro349Ala)
c.*4254C>G (n.*4254C>G)
c.784C>G (p.Pro262Ala)
c.787C>G (p.Pro263Ala)
c.5-12550C>G (n.5-12550C>G)
c.-43-1980C>G (n.-43-1980C>G)
c.-98-26311C>G (n.-98-26311C>G)
n.362C>G
n.4607C>G
n.4648C>G
 ClinVar dbSNP
17g.43076501G=CA2260775452BRCA1c.4468C= (p.Pro1490=)
c.4471C= (p.Pro1491=)
c.4345C= (p.Pro1449=)
c.4465C= (p.Pro1489=)
c.4393C= (p.Pro1465=)
c.1159C= (p.Pro387=)
c.1021C= (p.Pro341=)
c.3583C= (p.Pro1195=)
c.4348C= (p.Pro1450=)
c.4537C= (p.Pro1513=)
c.4330C= (p.Pro1444=)
c.1033C= (p.Pro345=)
c.1078C= (p.Pro360=)
c.4534C= (p.Pro1512=)
c.858C=
c.1045C= (p.Pro349=)
c.*4254C= (n.*4254C=)
c.784C= (p.Pro262=)
c.787C= (p.Pro263=)
c.5-12550C= (n.5-12550C=)
c.-43-1980C= (n.-43-1980C=)
c.-98-26311C= (n.-98-26311C=)
n.362C=
n.4607C=
n.4648C=
17g.43076501G>TCA10592589BRCA1c.4468C>A (p.Pro1490Thr)
c.4471C>A (p.Pro1491Thr)
c.4345C>A (p.Pro1449Thr)
c.4465C>A (p.Pro1489Thr)
c.4393C>A (p.Pro1465Thr)
c.1159C>A (p.Pro387Thr)
c.1021C>A (p.Pro341Thr)
c.3583C>A (p.Pro1195Thr)
c.4348C>A (p.Pro1450Thr)
c.4537C>A (p.Pro1513Thr)
c.4330C>A (p.Pro1444Thr)
c.1033C>A (p.Pro345Thr)
c.1078C>A (p.Pro360Thr)
c.4534C>A (p.Pro1512Thr)
c.858C>A
c.1045C>A (p.Pro349Thr)
c.*4254C>A (n.*4254C>A)
c.784C>A (p.Pro262Thr)
c.787C>A (p.Pro263Thr)
c.5-12550C>A (n.5-12550C>A)
c.-43-1980C>A (n.-43-1980C>A)
c.-98-26311C>A (n.-98-26311C>A)
n.362C>A
n.4607C>A
n.4648C>A
 ClinVar dbSNP
17g.43076502T>ACA10592590BRCA1c.4467A>T (p.Glu1489Asp)
c.4470A>T (p.Glu1490Asp)
c.4344A>T (p.Glu1448Asp)
c.4464A>T (p.Glu1488Asp)
c.4392A>T (p.Glu1464Asp)
c.1158A>T (p.Glu386Asp)
c.1020A>T (p.Glu340Asp)
c.3582A>T (p.Glu1194Asp)
c.4347A>T (p.Glu1449Asp)
c.4536A>T (p.Glu1512Asp)
c.4329A>T (p.Glu1443Asp)
c.1032A>T (p.Glu344Asp)
c.1077A>T (p.Glu359Asp)
c.4533A>T (p.Glu1511Asp)
c.857A>T
c.1044A>T (p.Glu348Asp)
c.*4253A>T (n.*4253A>T)
c.783A>T (p.Glu261Asp)
c.786A>T (p.Glu262Asp)
c.5-12551A>T (n.5-12551A>T)
c.-43-1981A>T (n.-43-1981A>T)
c.-98-26312A>T (n.-98-26312A>T)
n.361A>T
n.4606A>T
n.4647A>T
 ClinVar dbSNP
17g.43076502T>CCA500146786BRCA1c.4467A>G (p.Glu1489=)
c.4470A>G (p.Glu1490=)
c.4344A>G (p.Glu1448=)
c.4464A>G (p.Glu1488=)
c.4392A>G (p.Glu1464=)
c.1158A>G (p.Glu386=)
c.1020A>G (p.Glu340=)
c.3582A>G (p.Glu1194=)
c.4347A>G (p.Glu1449=)
c.4536A>G (p.Glu1512=)
c.4329A>G (p.Glu1443=)
c.1032A>G (p.Glu344=)
c.1077A>G (p.Glu359=)
c.4533A>G (p.Glu1511=)
c.857A>G
c.1044A>G (p.Glu348=)
c.*4253A>G (n.*4253A>G)
c.783A>G (p.Glu261=)
c.786A>G (p.Glu262=)
c.5-12551A>G (n.5-12551A>G)
c.-43-1981A>G (n.-43-1981A>G)
c.-98-26312A>G (n.-98-26312A>G)
n.361A>G
n.4606A>G
n.4647A>G
 ClinVar dbSNP
17g.43076502T>GCA10592591BRCA1c.4467A>C (p.Glu1489Asp)
c.4470A>C (p.Glu1490Asp)
c.4344A>C (p.Glu1448Asp)
c.4464A>C (p.Glu1488Asp)
c.4392A>C (p.Glu1464Asp)
c.1158A>C (p.Glu386Asp)
c.1020A>C (p.Glu340Asp)
c.3582A>C (p.Glu1194Asp)
c.4347A>C (p.Glu1449Asp)
c.4536A>C (p.Glu1512Asp)
c.4329A>C (p.Glu1443Asp)
c.1032A>C (p.Glu344Asp)
c.1077A>C (p.Glu359Asp)
c.4533A>C (p.Glu1511Asp)
c.857A>C
c.1044A>C (p.Glu348Asp)
c.*4253A>C (n.*4253A>C)
c.783A>C (p.Glu261Asp)
c.786A>C (p.Glu262Asp)
c.5-12551A>C (n.5-12551A>C)
c.-43-1981A>C (n.-43-1981A>C)
c.-98-26312A>C (n.-98-26312A>C)
n.361A>C
n.4606A>C
n.4647A>C
17g.43076502T=CA2260775453BRCA1c.4467A= (p.Glu1489=)
c.4470A= (p.Glu1490=)
c.4344A= (p.Glu1448=)
c.4464A= (p.Glu1488=)
c.4392A= (p.Glu1464=)
c.1158A= (p.Glu386=)
c.1020A= (p.Glu340=)
c.3582A= (p.Glu1194=)
c.4347A= (p.Glu1449=)
c.4536A= (p.Glu1512=)
c.4329A= (p.Glu1443=)
c.1032A= (p.Glu344=)
c.1077A= (p.Glu359=)
c.4533A= (p.Glu1511=)
c.857A=
c.1044A= (p.Glu348=)
c.*4253A= (n.*4253A=)
c.783A= (p.Glu261=)
c.786A= (p.Glu262=)
c.5-12551A= (n.5-12551A=)
c.-43-1981A= (n.-43-1981A=)
c.-98-26312A= (n.-98-26312A=)
n.361A=
n.4606A=
n.4647A=
17g.43076504_43076507delCA2580094430BRCA1c.4464_4467del (p.Lys1488AsnfsTer15)
c.4467_4470del (p.Lys1489AsnfsTer15)
c.4341_4344del (p.Lys1447AsnfsTer15)
c.4461_4464del (p.Lys1487AsnfsTer15)
c.4389_4392del (p.Lys1463AsnfsTer15)
c.1155_1158del (p.Lys385AsnfsTer15)
c.1017_1020del (p.Lys339AsnfsTer15)
c.3579_3582del (p.Lys1193AsnfsTer15)
c.4344_4347del (p.Lys1448AsnfsTer15)
c.4533_4536del (p.Lys1511AsnfsTer15)
c.4326_4329del (p.Lys1442AsnfsTer15)
c.1029_1032del (p.Lys343AsnfsTer15)
c.1074_1077del (p.Lys358AsnfsTer15)
c.4530_4533del (p.Lys1510AsnfsTer15)
c.854_857del
c.1041_1044del (p.Lys347AsnfsTer15)
c.*4250_*4253del (n.*4250_*4253del)
c.780_783del (p.Lys260AsnfsTer15)
c.783_786del (p.Lys261AsnfsTer?)
c.5-12554_5-12551del (n.5-12554_5-12551del)
c.-43-1984_-43-1981del (n.-43-1984_-43-1981del)
c.-98-26315_-98-26312del (n.-98-26315_-98-26312del)
n.358_361del
n.4603_4606del
n.4644_4647del
 ClinVar
17g.43076503T>ACA10592592BRCA1c.4466A>T (p.Glu1489Val)
c.4469A>T (p.Glu1490Val)
c.4343A>T (p.Glu1448Val)
c.4463A>T (p.Glu1488Val)
c.4391A>T (p.Glu1464Val)
c.1157A>T (p.Glu386Val)
c.1019A>T (p.Glu340Val)
c.3581A>T (p.Glu1194Val)
c.4346A>T (p.Glu1449Val)
c.4535A>T (p.Glu1512Val)
c.4328A>T (p.Glu1443Val)
c.1031A>T (p.Glu344Val)
c.1076A>T (p.Glu359Val)
c.4532A>T (p.Glu1511Val)
c.856A>T
c.1043A>T (p.Glu348Val)
c.*4252A>T (n.*4252A>T)
c.782A>T (p.Glu261Val)
c.785A>T (p.Glu262Val)
c.5-12552A>T (n.5-12552A>T)
c.-43-1982A>T (n.-43-1982A>T)
c.-98-26313A>T (n.-98-26313A>T)
n.360A>T
n.4605A>T
n.4646A>T
17g.43076503T>CCA10592593BRCA1c.4466A>G (p.Glu1489Gly)
c.4469A>G (p.Glu1490Gly)
c.4343A>G (p.Glu1448Gly)
c.4463A>G (p.Glu1488Gly)
c.4391A>G (p.Glu1464Gly)
c.1157A>G (p.Glu386Gly)
c.1019A>G (p.Glu340Gly)
c.3581A>G (p.Glu1194Gly)
c.4346A>G (p.Glu1449Gly)
c.4535A>G (p.Glu1512Gly)
c.4328A>G (p.Glu1443Gly)
c.1031A>G (p.Glu344Gly)
c.1076A>G (p.Glu359Gly)
c.4532A>G (p.Glu1511Gly)
c.856A>G
c.1043A>G (p.Glu348Gly)
c.*4252A>G (n.*4252A>G)
c.782A>G (p.Glu261Gly)
c.785A>G (p.Glu262Gly)
c.5-12552A>G (n.5-12552A>G)
c.-43-1982A>G (n.-43-1982A>G)
c.-98-26313A>G (n.-98-26313A>G)
n.360A>G
n.4605A>G
n.4646A>G
17g.43076503T>GCA10592594BRCA1c.4466A>C (p.Glu1489Ala)
c.4469A>C (p.Glu1490Ala)
c.4343A>C (p.Glu1448Ala)
c.4463A>C (p.Glu1488Ala)
c.4391A>C (p.Glu1464Ala)
c.1157A>C (p.Glu386Ala)
c.1019A>C (p.Glu340Ala)
c.3581A>C (p.Glu1194Ala)
c.4346A>C (p.Glu1449Ala)
c.4535A>C (p.Glu1512Ala)
c.4328A>C (p.Glu1443Ala)
c.1031A>C (p.Glu344Ala)
c.1076A>C (p.Glu359Ala)
c.4532A>C (p.Glu1511Ala)
c.856A>C
c.1043A>C (p.Glu348Ala)
c.*4252A>C (n.*4252A>C)
c.782A>C (p.Glu261Ala)
c.785A>C (p.Glu262Ala)
c.5-12552A>C (n.5-12552A>C)
c.-43-1982A>C (n.-43-1982A>C)
c.-98-26313A>C (n.-98-26313A>C)
n.360A>C
n.4605A>C
n.4646A>C
17g.43076504C>ACA002864BRCA1c.4465G>T (p.Glu1489Ter)
c.4468G>T (p.Glu1490Ter)
c.4342G>T (p.Glu1448Ter)
c.4462G>T (p.Glu1488Ter)
c.4390G>T (p.Glu1464Ter)
c.1156G>T (p.Glu386Ter)
c.1018G>T (p.Glu340Ter)
c.3580G>T (p.Glu1194Ter)
c.4345G>T (p.Glu1449Ter)
c.4534G>T (p.Glu1512Ter)
c.4327G>T (p.Glu1443Ter)
c.1030G>T (p.Glu344Ter)
c.1075G>T (p.Glu359Ter)
c.4531G>T (p.Glu1511Ter)
c.855G>T
c.1042G>T (p.Glu348Ter)
c.*4251G>T (n.*4251G>T)
c.781G>T (p.Glu261Ter)
c.784G>T (p.Glu262Ter)
c.5-12553G>T (n.5-12553G>T)
c.-43-1983G>T (n.-43-1983G>T)
c.-98-26314G>T (n.-98-26314G>T)
n.359G>T
n.4604G>T
n.4645G>T
 ClinVar dbSNP
17g.43076504C=CA2260775454BRCA1c.4465G= (p.Glu1489=)
c.4468G= (p.Glu1490=)
c.4342G= (p.Glu1448=)
c.4462G= (p.Glu1488=)
c.4390G= (p.Glu1464=)
c.1156G= (p.Glu386=)
c.1018G= (p.Glu340=)
c.3580G= (p.Glu1194=)
c.4345G= (p.Glu1449=)
c.4534G= (p.Glu1512=)
c.4327G= (p.Glu1443=)
c.1030G= (p.Glu344=)
c.1075G= (p.Glu359=)
c.4531G= (p.Glu1511=)
c.855G=
c.1042G= (p.Glu348=)
c.*4251G= (n.*4251G=)
c.781G= (p.Glu261=)
c.784G= (p.Glu262=)
c.5-12553G= (n.5-12553G=)
c.-43-1983G= (n.-43-1983G=)
c.-98-26314G= (n.-98-26314G=)
n.359G=
n.4604G=
n.4645G=
17g.43076504C>GCA10592595BRCA1c.4465G>C (p.Glu1489Gln)
c.4468G>C (p.Glu1490Gln)
c.4342G>C (p.Glu1448Gln)
c.4462G>C (p.Glu1488Gln)
c.4390G>C (p.Glu1464Gln)
c.1156G>C (p.Glu386Gln)
c.1018G>C (p.Glu340Gln)
c.3580G>C (p.Glu1194Gln)
c.4345G>C (p.Glu1449Gln)
c.4534G>C (p.Glu1512Gln)
c.4327G>C (p.Glu1443Gln)
c.1030G>C (p.Glu344Gln)
c.1075G>C (p.Glu359Gln)
c.4531G>C (p.Glu1511Gln)
c.855G>C
c.1042G>C (p.Glu348Gln)
c.*4251G>C (n.*4251G>C)
c.781G>C (p.Glu261Gln)
c.784G>C (p.Glu262Gln)
c.5-12553G>C (n.5-12553G>C)
c.-43-1983G>C (n.-43-1983G>C)
c.-98-26314G>C (n.-98-26314G>C)
n.359G>C
n.4604G>C
n.4645G>C
17g.43076504C>TCA10592596BRCA1c.4465G>A (p.Glu1489Lys)
c.4468G>A (p.Glu1490Lys)
c.4342G>A (p.Glu1448Lys)
c.4462G>A (p.Glu1488Lys)
c.4390G>A (p.Glu1464Lys)
c.1156G>A (p.Glu386Lys)
c.1018G>A (p.Glu340Lys)
c.3580G>A (p.Glu1194Lys)
c.4345G>A (p.Glu1449Lys)
c.4534G>A (p.Glu1512Lys)
c.4327G>A (p.Glu1443Lys)
c.1030G>A (p.Glu344Lys)
c.1075G>A (p.Glu359Lys)
c.4531G>A (p.Glu1511Lys)
c.855G>A
c.1042G>A (p.Glu348Lys)
c.*4251G>A (n.*4251G>A)
c.781G>A (p.Glu261Lys)
c.784G>A (p.Glu262Lys)
c.5-12553G>A (n.5-12553G>A)
c.-43-1983G>A (n.-43-1983G>A)
c.-98-26314G>A (n.-98-26314G>A)
n.359G>A
n.4604G>A
n.4645G>A
 dbSNP gnomAD v2 gnomAD v4
17g.43076505T>ACA10592597BRCA1c.4464A>T (p.Lys1488Asn)
c.4467A>T (p.Lys1489Asn)
c.4341A>T (p.Lys1447Asn)
c.4461A>T (p.Lys1487Asn)
c.4389A>T (p.Lys1463Asn)
c.1155A>T (p.Lys385Asn)
c.1017A>T (p.Lys339Asn)
c.3579A>T (p.Lys1193Asn)
c.4344A>T (p.Lys1448Asn)
c.4533A>T (p.Lys1511Asn)
c.4326A>T (p.Lys1442Asn)
c.1029A>T (p.Lys343Asn)
c.1074A>T (p.Lys358Asn)
c.4530A>T (p.Lys1510Asn)
c.854A>T
c.1041A>T (p.Lys347Asn)
c.*4250A>T (n.*4250A>T)
c.780A>T (p.Lys260Asn)
c.783A>T (p.Lys261Asn)
c.5-12554A>T (n.5-12554A>T)
c.-43-1984A>T (n.-43-1984A>T)
c.-98-26315A>T (n.-98-26315A>T)
n.358A>T
n.4603A>T
n.4644A>T
 dbSNP
17g.43076505T>CCA500146787BRCA1c.4464A>G (p.Lys1488=)
c.4467A>G (p.Lys1489=)
c.4341A>G (p.Lys1447=)
c.4461A>G (p.Lys1487=)
c.4389A>G (p.Lys1463=)
c.1155A>G (p.Lys385=)
c.1017A>G (p.Lys339=)
c.3579A>G (p.Lys1193=)
c.4344A>G (p.Lys1448=)
c.4533A>G (p.Lys1511=)
c.4326A>G (p.Lys1442=)
c.1029A>G (p.Lys343=)
c.1074A>G (p.Lys358=)
c.4530A>G (p.Lys1510=)
c.854A>G
c.1041A>G (p.Lys347=)
c.*4250A>G (n.*4250A>G)
c.780A>G (p.Lys260=)
c.783A>G (p.Lys261=)
c.5-12554A>G (n.5-12554A>G)
c.-43-1984A>G (n.-43-1984A>G)
c.-98-26315A>G (n.-98-26315A>G)
n.358A>G
n.4603A>G
n.4644A>G
 dbSNP
17g.43076505T>GCA10592598BRCA1c.4464A>C (p.Lys1488Asn)
c.4467A>C (p.Lys1489Asn)
c.4341A>C (p.Lys1447Asn)
c.4461A>C (p.Lys1487Asn)
c.4389A>C (p.Lys1463Asn)
c.1155A>C (p.Lys385Asn)
c.1017A>C (p.Lys339Asn)
c.3579A>C (p.Lys1193Asn)
c.4344A>C (p.Lys1448Asn)
c.4533A>C (p.Lys1511Asn)
c.4326A>C (p.Lys1442Asn)
c.1029A>C (p.Lys343Asn)
c.1074A>C (p.Lys358Asn)
c.4530A>C (p.Lys1510Asn)
c.854A>C
c.1041A>C (p.Lys347Asn)
c.*4250A>C (n.*4250A>C)
c.780A>C (p.Lys260Asn)
c.783A>C (p.Lys261Asn)
c.5-12554A>C (n.5-12554A>C)
c.-43-1984A>C (n.-43-1984A>C)
c.-98-26315A>C (n.-98-26315A>C)
n.358A>C
n.4603A>C
n.4644A>C
17g.43076507dupCA1139768279BRCA1c.4464dup (p.Glu1489ArgfsTer11)
c.4467dup (p.Glu1490ArgfsTer11)
c.4341dup (p.Glu1448ArgfsTer11)
c.4461dup (p.Glu1488ArgfsTer11)
c.4389dup (p.Glu1464ArgfsTer11)
c.1155dup (p.Glu386ArgfsTer11)
c.1017dup (p.Glu340ArgfsTer11)
c.3579dup (p.Glu1194ArgfsTer11)
c.4344dup (p.Glu1449ArgfsTer11)
c.4533dup (p.Glu1512ArgfsTer11)
c.4326dup (p.Glu1443ArgfsTer11)
c.1029dup (p.Glu344ArgfsTer11)
c.1074dup (p.Glu359ArgfsTer11)
c.4530dup (p.Glu1511ArgfsTer11)
c.854dup
c.1041dup (p.Glu348ArgfsTer11)
c.*4250dup (n.*4250dup)
c.780dup (p.Glu261ArgfsTer11)
c.783dup (p.Glu262ArgfsTer?)
c.5-12554dup (n.5-12554dup)
c.-43-1984dup (n.-43-1984dup)
c.-98-26315dup (n.-98-26315dup)
n.358dup
n.4603dup
n.4644dup
 ClinVar
17g.43076507delCA2573153988BRCA1c.4464del (p.Glu1489AsnfsTer15)
c.4467del (p.Glu1490AsnfsTer15)
c.4341del (p.Glu1448AsnfsTer15)
c.4461del (p.Glu1488AsnfsTer15)
c.4389del (p.Glu1464AsnfsTer15)
c.1155del (p.Glu386AsnfsTer15)
c.1017del (p.Glu340AsnfsTer15)
c.3579del (p.Glu1194AsnfsTer15)
c.4344del (p.Glu1449AsnfsTer15)
c.4533del (p.Glu1512AsnfsTer15)
c.4326del (p.Glu1443AsnfsTer15)
c.1029del (p.Glu344AsnfsTer15)
c.1074del (p.Glu359AsnfsTer15)
c.4530del (p.Glu1511AsnfsTer15)
c.854del
c.1041del (p.Glu348AsnfsTer15)
c.*4250del (n.*4250del)
c.780del (p.Glu261AsnfsTer15)
c.783del (p.Glu262AsnfsTer?)
c.5-12554del (n.5-12554del)
c.-43-1984del (n.-43-1984del)
c.-98-26315del (n.-98-26315del)
n.358del
n.4603del
n.4644del
 ClinVar dbSNP
17g.43076508_43076512dupCA2499224414BRCA1c.4460_4464dup (p.Glu1489IlefsTer17)
c.4463_4467dup (p.Glu1490IlefsTer17)
c.4337_4341dup (p.Glu1448IlefsTer17)
c.4457_4461dup (p.Glu1488IlefsTer17)
c.4385_4389dup (p.Glu1464IlefsTer17)
c.1151_1155dup (p.Glu386IlefsTer17)
c.1013_1017dup (p.Glu340IlefsTer17)
c.3575_3579dup (p.Glu1194IlefsTer17)
c.4340_4344dup (p.Glu1449IlefsTer17)
c.4529_4533dup (p.Glu1512IlefsTer17)
c.4322_4326dup (p.Glu1443IlefsTer17)
c.1025_1029dup (p.Glu344IlefsTer17)
c.1070_1074dup (p.Glu359IlefsTer17)
c.4526_4530dup (p.Glu1511IlefsTer17)
c.850_854dup
c.1037_1041dup (p.Glu348IlefsTer17)
c.*4246_*4250dup (n.*4246_*4250dup)
c.776_780dup (p.Glu261IlefsTer17)
c.779_783dup (p.Glu262IlefsTer?)
c.5-12558_5-12554dup (n.5-12558_5-12554dup)
c.-43-1988_-43-1984dup (n.-43-1988_-43-1984dup)
c.-98-26319_-98-26315dup (n.-98-26319_-98-26315dup)
n.354_358dup
n.4599_4603dup
n.4640_4644dup
 ClinVar dbSNP
17g.43076506T>ACA10592599BRCA1c.4463A>T (p.Lys1488Ile)
c.4466A>T (p.Lys1489Ile)
c.4340A>T (p.Lys1447Ile)
c.4460A>T (p.Lys1487Ile)
c.4388A>T (p.Lys1463Ile)
c.1154A>T (p.Lys385Ile)
c.1016A>T (p.Lys339Ile)
c.3578A>T (p.Lys1193Ile)
c.4343A>T (p.Lys1448Ile)
c.4532A>T (p.Lys1511Ile)
c.4325A>T (p.Lys1442Ile)
c.1028A>T (p.Lys343Ile)
c.1073A>T (p.Lys358Ile)
c.4529A>T (p.Lys1510Ile)
c.853A>T
c.1040A>T (p.Lys347Ile)
c.*4249A>T (n.*4249A>T)
c.779A>T (p.Lys260Ile)
c.782A>T (p.Lys261Ile)
c.5-12555A>T (n.5-12555A>T)
c.-43-1985A>T (n.-43-1985A>T)
c.-98-26316A>T (n.-98-26316A>T)
n.357A>T
n.4602A>T
n.4643A>T
 ClinVar dbSNP
17g.43076506T>CCA002863BRCA1c.4463A>G (p.Lys1488Arg)
c.4466A>G (p.Lys1489Arg)
c.4340A>G (p.Lys1447Arg)
c.4460A>G (p.Lys1487Arg)
c.4388A>G (p.Lys1463Arg)
c.1154A>G (p.Lys385Arg)
c.1016A>G (p.Lys339Arg)
c.3578A>G (p.Lys1193Arg)
c.4343A>G (p.Lys1448Arg)
c.4532A>G (p.Lys1511Arg)
c.4325A>G (p.Lys1442Arg)
c.1028A>G (p.Lys343Arg)
c.1073A>G (p.Lys358Arg)
c.4529A>G (p.Lys1510Arg)
c.853A>G
c.1040A>G (p.Lys347Arg)
c.*4249A>G (n.*4249A>G)
c.779A>G (p.Lys260Arg)
c.782A>G (p.Lys261Arg)
c.5-12555A>G (n.5-12555A>G)
c.-43-1985A>G (n.-43-1985A>G)
c.-98-26316A>G (n.-98-26316A>G)
n.357A>G
n.4602A>G
n.4643A>G
 ClinVar dbSNP

Number of alleles fetched