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.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.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.43076516_43076520delinsTGGTACA2260775465BRCA1c.4449_4453delinsTACCA (p.Ser1483=)
c.4452_4456delinsTACCA (p.Ser1484=)
c.4326_4330delinsTACCA (p.Ser1442=)
c.4446_4450delinsTACCA (p.Ser1482=)
c.4374_4378delinsTACCA (p.Ser1458=)
c.1140_1144delinsTACCA (p.Ser380=)
c.1002_1006delinsTACCA (p.Ser334=)
c.3564_3568delinsTACCA (p.Ser1188=)
c.4329_4333delinsTACCA (p.Ser1443=)
c.4518_4522delinsTACCA (p.Ser1506=)
c.4311_4315delinsTACCA (p.Ser1437=)
c.1014_1018delinsTACCA (p.Ser338=)
c.1059_1063delinsTACCA (p.Ser353=)
c.4515_4519delinsTACCA (p.Ser1505=)
c.839_843delinsTACCA
c.1026_1030delinsTACCA (p.Ser342=)
c.*4235_*4239delinsTACCA (n.*4235_*4239delinsTACCA)
c.765_769delinsTACCA (p.Ser255=)
c.768_772delinsTACCA (p.Ser256=)
c.5-12569_5-12565delinsTACCA (n.5-12569_5-12565delinsTACCA)
c.-43-1999_-43-1995delinsTACCA (n.-43-1999_-43-1995delinsTACCA)
c.-98-26330_-98-26326delinsTACCA (n.-98-26330_-98-26326delinsTACCA)
n.343_347delinsTACCA
n.4588_4592delinsTACCA
n.4629_4633delinsTACCA
17g.43076518_43076521delCA002856BRCA1c.4449_4452del (p.Thr1484ValfsTer19)
c.4452_4455del (p.Thr1485ValfsTer19)
c.4326_4329del (p.Thr1443ValfsTer19)
c.4446_4449del (p.Thr1483ValfsTer19)
c.4374_4377del (p.Thr1459ValfsTer19)
c.1140_1143del (p.Thr381ValfsTer19)
c.1002_1005del (p.Thr335ValfsTer19)
c.3564_3567del (p.Thr1189ValfsTer19)
c.4329_4332del (p.Thr1444ValfsTer19)
c.4518_4521del (p.Thr1507ValfsTer19)
c.4311_4314del (p.Thr1438ValfsTer19)
c.1014_1017del (p.Thr339ValfsTer19)
c.1059_1062del (p.Thr354ValfsTer19)
c.4515_4518del (p.Thr1506ValfsTer19)
c.839_842del
c.1026_1029del (p.Thr343ValfsTer19)
c.*4235_*4238del (n.*4235_*4238del)
c.765_768del (p.Thr256ValfsTer19)
c.768_771del (p.Thr257ValfsTer?)
c.5-12569_5-12566del (n.5-12569_5-12566del)
c.-43-1999_-43-1996del (n.-43-1999_-43-1996del)
c.-98-26330_-98-26327del (n.-98-26330_-98-26327del)
n.343_346del
n.4588_4591del
n.4629_4632del
 ClinVar dbSNP
17g.43076518_43076519delinsCCA2695225919BRCA1c.4450_4451delinsG (p.Thr1484AlafsTer20)
c.4453_4454delinsG (p.Thr1485AlafsTer20)
c.4327_4328delinsG (p.Thr1443AlafsTer20)
c.4447_4448delinsG (p.Thr1483AlafsTer20)
c.4375_4376delinsG (p.Thr1459AlafsTer20)
c.1141_1142delinsG (p.Thr381AlafsTer20)
c.1003_1004delinsG (p.Thr335AlafsTer20)
c.3565_3566delinsG (p.Thr1189AlafsTer20)
c.4330_4331delinsG (p.Thr1444AlafsTer20)
c.4519_4520delinsG (p.Thr1507AlafsTer20)
c.4312_4313delinsG (p.Thr1438AlafsTer20)
c.1015_1016delinsG (p.Thr339AlafsTer20)
c.1060_1061delinsG (p.Thr354AlafsTer20)
c.4516_4517delinsG (p.Thr1506AlafsTer20)
c.840_841delinsG
c.1027_1028delinsG (p.Thr343AlafsTer20)
c.*4236_*4237delinsG (n.*4236_*4237delinsG)
c.766_767delinsG (p.Thr256AlafsTer20)
c.769_770delinsG (p.Thr257AlafsTer?)
c.5-12568_5-12567delinsG (n.5-12568_5-12567delinsG)
c.-43-1998_-43-1997delinsG (n.-43-1998_-43-1997delinsG)
c.-98-26329_-98-26328delinsG (n.-98-26329_-98-26328delinsG)
n.344_345delinsG
n.4589_4590delinsG
n.4630_4631delinsG
17g.43076519T>ACA10592627BRCA1c.4450A>T (p.Thr1484Ser)
c.4453A>T (p.Thr1485Ser)
c.4327A>T (p.Thr1443Ser)
c.4447A>T (p.Thr1483Ser)
c.4375A>T (p.Thr1459Ser)
c.1141A>T (p.Thr381Ser)
c.1003A>T (p.Thr335Ser)
c.3565A>T (p.Thr1189Ser)
c.4330A>T (p.Thr1444Ser)
c.4519A>T (p.Thr1507Ser)
c.4312A>T (p.Thr1438Ser)
c.1015A>T (p.Thr339Ser)
c.1060A>T (p.Thr354Ser)
c.4516A>T (p.Thr1506Ser)
c.840A>T
c.1027A>T (p.Thr343Ser)
c.*4236A>T (n.*4236A>T)
c.766A>T (p.Thr256Ser)
c.769A>T (p.Thr257Ser)
c.5-12568A>T (n.5-12568A>T)
c.-43-1998A>T (n.-43-1998A>T)
c.-98-26329A>T (n.-98-26329A>T)
n.344A>T
n.4589A>T
n.4630A>T
 dbSNP
17g.43076519T>CCA10592628BRCA1c.4450A>G (p.Thr1484Ala)
c.4453A>G (p.Thr1485Ala)
c.4327A>G (p.Thr1443Ala)
c.4447A>G (p.Thr1483Ala)
c.4375A>G (p.Thr1459Ala)
c.1141A>G (p.Thr381Ala)
c.1003A>G (p.Thr335Ala)
c.3565A>G (p.Thr1189Ala)
c.4330A>G (p.Thr1444Ala)
c.4519A>G (p.Thr1507Ala)
c.4312A>G (p.Thr1438Ala)
c.1015A>G (p.Thr339Ala)
c.1060A>G (p.Thr354Ala)
c.4516A>G (p.Thr1506Ala)
c.840A>G
c.1027A>G (p.Thr343Ala)
c.*4236A>G (n.*4236A>G)
c.766A>G (p.Thr256Ala)
c.769A>G (p.Thr257Ala)
c.5-12568A>G (n.5-12568A>G)
c.-43-1998A>G (n.-43-1998A>G)
c.-98-26329A>G (n.-98-26329A>G)
n.344A>G
n.4589A>G
n.4630A>G
 ClinVar dbSNP gnomAD v4
17g.43076519T>GCA10592629BRCA1c.4450A>C (p.Thr1484Pro)
c.4453A>C (p.Thr1485Pro)
c.4327A>C (p.Thr1443Pro)
c.4447A>C (p.Thr1483Pro)
c.4375A>C (p.Thr1459Pro)
c.1141A>C (p.Thr381Pro)
c.1003A>C (p.Thr335Pro)
c.3565A>C (p.Thr1189Pro)
c.4330A>C (p.Thr1444Pro)
c.4519A>C (p.Thr1507Pro)
c.4312A>C (p.Thr1438Pro)
c.1015A>C (p.Thr339Pro)
c.1060A>C (p.Thr354Pro)
c.4516A>C (p.Thr1506Pro)
c.840A>C
c.1027A>C (p.Thr343Pro)
c.*4236A>C (n.*4236A>C)
c.766A>C (p.Thr256Pro)
c.769A>C (p.Thr257Pro)
c.5-12568A>C (n.5-12568A>C)
c.-43-1998A>C (n.-43-1998A>C)
c.-98-26329A>C (n.-98-26329A>C)
n.344A>C
n.4589A>C
n.4630A>C
17g.43076520A>CCA500146794BRCA1c.4449T>G (p.Ser1483=)
c.4452T>G (p.Ser1484=)
c.4326T>G (p.Ser1442=)
c.4446T>G (p.Ser1482=)
c.4374T>G (p.Ser1458=)
c.1140T>G (p.Ser380=)
c.1002T>G (p.Ser334=)
c.3564T>G (p.Ser1188=)
c.4329T>G (p.Ser1443=)
c.4518T>G (p.Ser1506=)
c.4311T>G (p.Ser1437=)
c.1014T>G (p.Ser338=)
c.1059T>G (p.Ser353=)
c.4515T>G (p.Ser1505=)
c.839T>G
c.1026T>G (p.Ser342=)
c.*4235T>G (n.*4235T>G)
c.765T>G (p.Ser255=)
c.768T>G (p.Ser256=)
c.5-12569T>G (n.5-12569T>G)
c.-43-1999T>G (n.-43-1999T>G)
c.-98-26330T>G (n.-98-26330T>G)
n.343T>G
n.4588T>G
n.4629T>G
 ClinVar
17g.43076520A>GCA500146795BRCA1c.4449T>C (p.Ser1483=)
c.4452T>C (p.Ser1484=)
c.4326T>C (p.Ser1442=)
c.4446T>C (p.Ser1482=)
c.4374T>C (p.Ser1458=)
c.1140T>C (p.Ser380=)
c.1002T>C (p.Ser334=)
c.3564T>C (p.Ser1188=)
c.4329T>C (p.Ser1443=)
c.4518T>C (p.Ser1506=)
c.4311T>C (p.Ser1437=)
c.1014T>C (p.Ser338=)
c.1059T>C (p.Ser353=)
c.4515T>C (p.Ser1505=)
c.839T>C
c.1026T>C (p.Ser342=)
c.*4235T>C (n.*4235T>C)
c.765T>C (p.Ser255=)
c.768T>C (p.Ser256=)
c.5-12569T>C (n.5-12569T>C)
c.-43-1999T>C (n.-43-1999T>C)
c.-98-26330T>C (n.-98-26330T>C)
n.343T>C
n.4588T>C
n.4629T>C
17g.43076520A>TCA500146796BRCA1c.4449T>A (p.Ser1483=)
c.4452T>A (p.Ser1484=)
c.4326T>A (p.Ser1442=)
c.4446T>A (p.Ser1482=)
c.4374T>A (p.Ser1458=)
c.1140T>A (p.Ser380=)
c.1002T>A (p.Ser334=)
c.3564T>A (p.Ser1188=)
c.4329T>A (p.Ser1443=)
c.4518T>A (p.Ser1506=)
c.4311T>A (p.Ser1437=)
c.1014T>A (p.Ser338=)
c.1059T>A (p.Ser353=)
c.4515T>A (p.Ser1505=)
c.839T>A
c.1026T>A (p.Ser342=)
c.*4235T>A (n.*4235T>A)
c.765T>A (p.Ser255=)
c.768T>A (p.Ser256=)
c.5-12569T>A (n.5-12569T>A)
c.-43-1999T>A (n.-43-1999T>A)
c.-98-26330T>A (n.-98-26330T>A)
n.343T>A
n.4588T>A
n.4629T>A
 ClinVar
17g.43076521G>ACA10592630BRCA1c.4448C>T (p.Ser1483Phe)
c.4451C>T (p.Ser1484Phe)
c.4325C>T (p.Ser1442Phe)
c.4445C>T (p.Ser1482Phe)
c.4373C>T (p.Ser1458Phe)
c.1139C>T (p.Ser380Phe)
c.1001C>T (p.Ser334Phe)
c.3563C>T (p.Ser1188Phe)
c.4328C>T (p.Ser1443Phe)
c.4517C>T (p.Ser1506Phe)
c.4310C>T (p.Ser1437Phe)
c.1013C>T (p.Ser338Phe)
c.1058C>T (p.Ser353Phe)
c.4514C>T (p.Ser1505Phe)
c.838C>T
c.1025C>T (p.Ser342Phe)
c.*4234C>T (n.*4234C>T)
c.764C>T (p.Ser255Phe)
c.767C>T (p.Ser256Phe)
c.5-12570C>T (n.5-12570C>T)
c.-43-2000C>T (n.-43-2000C>T)
c.-98-26331C>T (n.-98-26331C>T)
n.342C>T
n.4587C>T
n.4628C>T
 dbSNP
17g.43076521G>CCA10592631BRCA1c.4448C>G (p.Ser1483Cys)
c.4451C>G (p.Ser1484Cys)
c.4325C>G (p.Ser1442Cys)
c.4445C>G (p.Ser1482Cys)
c.4373C>G (p.Ser1458Cys)
c.1139C>G (p.Ser380Cys)
c.1001C>G (p.Ser334Cys)
c.3563C>G (p.Ser1188Cys)
c.4328C>G (p.Ser1443Cys)
c.4517C>G (p.Ser1506Cys)
c.4310C>G (p.Ser1437Cys)
c.1013C>G (p.Ser338Cys)
c.1058C>G (p.Ser353Cys)
c.4514C>G (p.Ser1505Cys)
c.838C>G
c.1025C>G (p.Ser342Cys)
c.*4234C>G (n.*4234C>G)
c.764C>G (p.Ser255Cys)
c.767C>G (p.Ser256Cys)
c.5-12570C>G (n.5-12570C>G)
c.-43-2000C>G (n.-43-2000C>G)
c.-98-26331C>G (n.-98-26331C>G)
n.342C>G
n.4587C>G
n.4628C>G
 dbSNP
17g.43076521G=CA2260775467BRCA1c.4448C= (p.Ser1483=)
c.4451C= (p.Ser1484=)
c.4325C= (p.Ser1442=)
c.4445C= (p.Ser1482=)
c.4373C= (p.Ser1458=)
c.1139C= (p.Ser380=)
c.1001C= (p.Ser334=)
c.3563C= (p.Ser1188=)
c.4328C= (p.Ser1443=)
c.4517C= (p.Ser1506=)
c.4310C= (p.Ser1437=)
c.1013C= (p.Ser338=)
c.1058C= (p.Ser353=)
c.4514C= (p.Ser1505=)
c.838C=
c.1025C= (p.Ser342=)
c.*4234C= (n.*4234C=)
c.764C= (p.Ser255=)
c.767C= (p.Ser256=)
c.5-12570C= (n.5-12570C=)
c.-43-2000C= (n.-43-2000C=)
c.-98-26331C= (n.-98-26331C=)
n.342C=
n.4587C=
n.4628C=
17g.43076521G>TCA10592632BRCA1c.4448C>A (p.Ser1483Tyr)
c.4451C>A (p.Ser1484Tyr)
c.4325C>A (p.Ser1442Tyr)
c.4445C>A (p.Ser1482Tyr)
c.4373C>A (p.Ser1458Tyr)
c.1139C>A (p.Ser380Tyr)
c.1001C>A (p.Ser334Tyr)
c.3563C>A (p.Ser1188Tyr)
c.4328C>A (p.Ser1443Tyr)
c.4517C>A (p.Ser1506Tyr)
c.4310C>A (p.Ser1437Tyr)
c.1013C>A (p.Ser338Tyr)
c.1058C>A (p.Ser353Tyr)
c.4514C>A (p.Ser1505Tyr)
c.838C>A
c.1025C>A (p.Ser342Tyr)
c.*4234C>A (n.*4234C>A)
c.764C>A (p.Ser255Tyr)
c.767C>A (p.Ser256Tyr)
c.5-12570C>A (n.5-12570C>A)
c.-43-2000C>A (n.-43-2000C>A)
c.-98-26331C>A (n.-98-26331C>A)
n.342C>A
n.4587C>A
n.4628C>A
17g.43076522A=CA2260775468BRCA1c.4447T= (p.Ser1483=)
c.4450T= (p.Ser1484=)
c.4324T= (p.Ser1442=)
c.4444T= (p.Ser1482=)
c.4372T= (p.Ser1458=)
c.1138T= (p.Ser380=)
c.1000T= (p.Ser334=)
c.3562T= (p.Ser1188=)
c.4327T= (p.Ser1443=)
c.4516T= (p.Ser1506=)
c.4309T= (p.Ser1437=)
c.1012T= (p.Ser338=)
c.1057T= (p.Ser353=)
c.4513T= (p.Ser1505=)
c.837T=
c.1024T= (p.Ser342=)
c.*4233T= (n.*4233T=)
c.763T= (p.Ser255=)
c.766T= (p.Ser256=)
c.5-12571T= (n.5-12571T=)
c.-43-2001T= (n.-43-2001T=)
c.-98-26332T= (n.-98-26332T=)
n.341T=
n.4586T=
n.4627T=
17g.43076522A>CCA10592633BRCA1c.4447T>G (p.Ser1483Ala)
c.4450T>G (p.Ser1484Ala)
c.4324T>G (p.Ser1442Ala)
c.4444T>G (p.Ser1482Ala)
c.4372T>G (p.Ser1458Ala)
c.1138T>G (p.Ser380Ala)
c.1000T>G (p.Ser334Ala)
c.3562T>G (p.Ser1188Ala)
c.4327T>G (p.Ser1443Ala)
c.4516T>G (p.Ser1506Ala)
c.4309T>G (p.Ser1437Ala)
c.1012T>G (p.Ser338Ala)
c.1057T>G (p.Ser353Ala)
c.4513T>G (p.Ser1505Ala)
c.837T>G
c.1024T>G (p.Ser342Ala)
c.*4233T>G (n.*4233T>G)
c.763T>G (p.Ser255Ala)
c.766T>G (p.Ser256Ala)
c.5-12571T>G (n.5-12571T>G)
c.-43-2001T>G (n.-43-2001T>G)
c.-98-26332T>G (n.-98-26332T>G)
n.341T>G
n.4586T>G
n.4627T>G
 ClinVar dbSNP
17g.43076522A>GCA10592634BRCA1c.4447T>C (p.Ser1483Pro)
c.4450T>C (p.Ser1484Pro)
c.4324T>C (p.Ser1442Pro)
c.4444T>C (p.Ser1482Pro)
c.4372T>C (p.Ser1458Pro)
c.1138T>C (p.Ser380Pro)
c.1000T>C (p.Ser334Pro)
c.3562T>C (p.Ser1188Pro)
c.4327T>C (p.Ser1443Pro)
c.4516T>C (p.Ser1506Pro)
c.4309T>C (p.Ser1437Pro)
c.1012T>C (p.Ser338Pro)
c.1057T>C (p.Ser353Pro)
c.4513T>C (p.Ser1505Pro)
c.837T>C
c.1024T>C (p.Ser342Pro)
c.*4233T>C (n.*4233T>C)
c.763T>C (p.Ser255Pro)
c.766T>C (p.Ser256Pro)
c.5-12571T>C (n.5-12571T>C)
c.-43-2001T>C (n.-43-2001T>C)
c.-98-26332T>C (n.-98-26332T>C)
n.341T>C
n.4586T>C
n.4627T>C
17g.43076522A>TCA002855BRCA1c.4447T>A (p.Ser1483Thr)
c.4450T>A (p.Ser1484Thr)
c.4324T>A (p.Ser1442Thr)
c.4444T>A (p.Ser1482Thr)
c.4372T>A (p.Ser1458Thr)
c.1138T>A (p.Ser380Thr)
c.1000T>A (p.Ser334Thr)
c.3562T>A (p.Ser1188Thr)
c.4327T>A (p.Ser1443Thr)
c.4516T>A (p.Ser1506Thr)
c.4309T>A (p.Ser1437Thr)
c.1012T>A (p.Ser338Thr)
c.1057T>A (p.Ser353Thr)
c.4513T>A (p.Ser1505Thr)
c.837T>A
c.1024T>A (p.Ser342Thr)
c.*4233T>A (n.*4233T>A)
c.763T>A (p.Ser255Thr)
c.766T>A (p.Ser256Thr)
c.5-12571T>A (n.5-12571T>A)
c.-43-2001T>A (n.-43-2001T>A)
c.-98-26332T>A (n.-98-26332T>A)
n.341T>A
n.4586T>A
n.4627T>A
 ClinVar dbSNP
17g.43076523dupCA919844292BRCA1c.4447dup (p.Ser1483PhefsTer4)
c.4450dup (p.Ser1484PhefsTer4)
c.4324dup (p.Ser1442PhefsTer4)
c.4444dup (p.Ser1482PhefsTer4)
c.4372dup (p.Ser1458PhefsTer4)
c.1138dup (p.Ser380PhefsTer4)
c.1000dup (p.Ser334PhefsTer4)
c.3562dup (p.Ser1188PhefsTer4)
c.4327dup (p.Ser1443PhefsTer4)
c.4516dup (p.Ser1506PhefsTer4)
c.4309dup (p.Ser1437PhefsTer4)
c.1012dup (p.Ser338PhefsTer4)
c.1057dup (p.Ser353PhefsTer4)
c.4513dup (p.Ser1505PhefsTer4)
c.837dup
c.1024dup (p.Ser342PhefsTer4)
c.*4233dup (n.*4233dup)
c.763dup (p.Ser255PhefsTer4)
c.766dup (p.Ser256PhefsTer4)
c.5-12571dup (n.5-12571dup)
c.-43-2001dup (n.-43-2001dup)
c.-98-26332dup (n.-98-26332dup)
n.341dup
n.4586dup
n.4627dup
 dbSNP
17g.43076523_43076526dupCA2573153990BRCA1c.4444_4447dup (p.Ser1483Ter)
c.4447_4450dup (p.Ser1484Ter)
c.4321_4324dup (p.Ser1442Ter)
c.4441_4444dup (p.Ser1482Ter)
c.4369_4372dup (p.Ser1458Ter)
c.1135_1138dup (p.Ser380Ter)
c.997_1000dup (p.Ser334Ter)
c.3559_3562dup (p.Ser1188Ter)
c.4324_4327dup (p.Ser1443Ter)
c.4513_4516dup (p.Ser1506Ter)
c.4306_4309dup (p.Ser1437Ter)
c.1009_1012dup (p.Ser338Ter)
c.1054_1057dup (p.Ser353Ter)
c.4510_4513dup (p.Ser1505Ter)
c.834_837dup
c.1021_1024dup (p.Ser342Ter)
c.*4230_*4233dup (n.*4230_*4233dup)
c.760_763dup (p.Ser255Ter)
c.763_766dup (p.Ser256Ter)
c.5-12574_5-12571dup (n.5-12574_5-12571dup)
c.-43-2004_-43-2001dup (n.-43-2004_-43-2001dup)
c.-98-26335_-98-26332dup (n.-98-26335_-98-26332dup)
n.338_341dup
n.4583_4586dup
n.4624_4627dup
 ClinVar dbSNP
17g.43076523A=CA2260775469BRCA1c.4446T= (p.Ser1482=)
c.4449T= (p.Ser1483=)
c.4323T= (p.Ser1441=)
c.4443T= (p.Ser1481=)
c.4371T= (p.Ser1457=)
c.1137T= (p.Ser379=)
c.999T= (p.Ser333=)
c.3561T= (p.Ser1187=)
c.4326T= (p.Ser1442=)
c.4515T= (p.Ser1505=)
c.4308T= (p.Ser1436=)
c.1011T= (p.Ser337=)
c.1056T= (p.Ser352=)
c.4512T= (p.Ser1504=)
c.836T=
c.1023T= (p.Ser341=)
c.*4232T= (n.*4232T=)
c.762T= (p.Ser254=)
c.765T= (p.Ser255=)
c.5-12572T= (n.5-12572T=)
c.-43-2002T= (n.-43-2002T=)
c.-98-26333T= (n.-98-26333T=)
n.340T=
n.4585T=
n.4626T=
17g.43076523A>CCA10592635BRCA1c.4446T>G (p.Ser1482Arg)
c.4449T>G (p.Ser1483Arg)
c.4323T>G (p.Ser1441Arg)
c.4443T>G (p.Ser1481Arg)
c.4371T>G (p.Ser1457Arg)
c.1137T>G (p.Ser379Arg)
c.999T>G (p.Ser333Arg)
c.3561T>G (p.Ser1187Arg)
c.4326T>G (p.Ser1442Arg)
c.4515T>G (p.Ser1505Arg)
c.4308T>G (p.Ser1436Arg)
c.1011T>G (p.Ser337Arg)
c.1056T>G (p.Ser352Arg)
c.4512T>G (p.Ser1504Arg)
c.836T>G
c.1023T>G (p.Ser341Arg)
c.*4232T>G (n.*4232T>G)
c.762T>G (p.Ser254Arg)
c.765T>G (p.Ser255Arg)
c.5-12572T>G (n.5-12572T>G)
c.-43-2002T>G (n.-43-2002T>G)
c.-98-26333T>G (n.-98-26333T>G)
n.340T>G
n.4585T>G
n.4626T>G
17g.43076523A>GCA500146797BRCA1c.4446T>C (p.Ser1482=)
c.4449T>C (p.Ser1483=)
c.4323T>C (p.Ser1441=)
c.4443T>C (p.Ser1481=)
c.4371T>C (p.Ser1457=)
c.1137T>C (p.Ser379=)
c.999T>C (p.Ser333=)
c.3561T>C (p.Ser1187=)
c.4326T>C (p.Ser1442=)
c.4515T>C (p.Ser1505=)
c.4308T>C (p.Ser1436=)
c.1011T>C (p.Ser337=)
c.1056T>C (p.Ser352=)
c.4512T>C (p.Ser1504=)
c.836T>C
c.1023T>C (p.Ser341=)
c.*4232T>C (n.*4232T>C)
c.762T>C (p.Ser254=)
c.765T>C (p.Ser255=)
c.5-12572T>C (n.5-12572T>C)
c.-43-2002T>C (n.-43-2002T>C)
c.-98-26333T>C (n.-98-26333T>C)
n.340T>C
n.4585T>C
n.4626T>C
17g.43076523A>TCA10592636BRCA1c.4446T>A (p.Ser1482Arg)
c.4449T>A (p.Ser1483Arg)
c.4323T>A (p.Ser1441Arg)
c.4443T>A (p.Ser1481Arg)
c.4371T>A (p.Ser1457Arg)
c.1137T>A (p.Ser379Arg)
c.999T>A (p.Ser333Arg)
c.3561T>A (p.Ser1187Arg)
c.4326T>A (p.Ser1442Arg)
c.4515T>A (p.Ser1505Arg)
c.4308T>A (p.Ser1436Arg)
c.1011T>A (p.Ser337Arg)
c.1056T>A (p.Ser352Arg)
c.4512T>A (p.Ser1504Arg)
c.836T>A
c.1023T>A (p.Ser341Arg)
c.*4232T>A (n.*4232T>A)
c.762T>A (p.Ser254Arg)
c.765T>A (p.Ser255Arg)
c.5-12572T>A (n.5-12572T>A)
c.-43-2002T>A (n.-43-2002T>A)
c.-98-26333T>A (n.-98-26333T>A)
n.340T>A
n.4585T>A
n.4626T>A
 ClinVar dbSNP gnomAD v4
17g.43076524C>ACA10592637BRCA1c.4445G>T (p.Ser1482Ile)
c.4448G>T (p.Ser1483Ile)
c.4322G>T (p.Ser1441Ile)
c.4442G>T (p.Ser1481Ile)
c.4370G>T (p.Ser1457Ile)
c.1136G>T (p.Ser379Ile)
c.998G>T (p.Ser333Ile)
c.3560G>T (p.Ser1187Ile)
c.4325G>T (p.Ser1442Ile)
c.4514G>T (p.Ser1505Ile)
c.4307G>T (p.Ser1436Ile)
c.1010G>T (p.Ser337Ile)
c.1055G>T (p.Ser352Ile)
c.4511G>T (p.Ser1504Ile)
c.835G>T
c.1022G>T (p.Ser341Ile)
c.*4231G>T (n.*4231G>T)
c.761G>T (p.Ser254Ile)
c.764G>T (p.Ser255Ile)
c.5-12573G>T (n.5-12573G>T)
c.-43-2003G>T (n.-43-2003G>T)
c.-98-26334G>T (n.-98-26334G>T)
n.339G>T
n.4584G>T
n.4625G>T
17g.43076524C=CA2260775471BRCA1c.4445G= (p.Ser1482=)
c.4448G= (p.Ser1483=)
c.4322G= (p.Ser1441=)
c.4442G= (p.Ser1481=)
c.4370G= (p.Ser1457=)
c.1136G= (p.Ser379=)
c.998G= (p.Ser333=)
c.3560G= (p.Ser1187=)
c.4325G= (p.Ser1442=)
c.4514G= (p.Ser1505=)
c.4307G= (p.Ser1436=)
c.1010G= (p.Ser337=)
c.1055G= (p.Ser352=)
c.4511G= (p.Ser1504=)
c.835G=
c.1022G= (p.Ser341=)
c.*4231G= (n.*4231G=)
c.761G= (p.Ser254=)
c.764G= (p.Ser255=)
c.5-12573G= (n.5-12573G=)
c.-43-2003G= (n.-43-2003G=)
c.-98-26334G= (n.-98-26334G=)
n.339G=
n.4584G=
n.4625G=
17g.43076524C>GCA10592638BRCA1c.4445G>C (p.Ser1482Thr)
c.4448G>C (p.Ser1483Thr)
c.4322G>C (p.Ser1441Thr)
c.4442G>C (p.Ser1481Thr)
c.4370G>C (p.Ser1457Thr)
c.1136G>C (p.Ser379Thr)
c.998G>C (p.Ser333Thr)
c.3560G>C (p.Ser1187Thr)
c.4325G>C (p.Ser1442Thr)
c.4514G>C (p.Ser1505Thr)
c.4307G>C (p.Ser1436Thr)
c.1010G>C (p.Ser337Thr)
c.1055G>C (p.Ser352Thr)
c.4511G>C (p.Ser1504Thr)
c.835G>C
c.1022G>C (p.Ser341Thr)
c.*4231G>C (n.*4231G>C)
c.761G>C (p.Ser254Thr)
c.764G>C (p.Ser255Thr)
c.5-12573G>C (n.5-12573G>C)
c.-43-2003G>C (n.-43-2003G>C)
c.-98-26334G>C (n.-98-26334G>C)
n.339G>C
n.4584G>C
n.4625G>C
 dbSNP gnomAD v4
17g.43076524C>TCA10592639BRCA1c.4445G>A (p.Ser1482Asn)
c.4448G>A (p.Ser1483Asn)
c.4322G>A (p.Ser1441Asn)
c.4442G>A (p.Ser1481Asn)
c.4370G>A (p.Ser1457Asn)
c.1136G>A (p.Ser379Asn)
c.998G>A (p.Ser333Asn)
c.3560G>A (p.Ser1187Asn)
c.4325G>A (p.Ser1442Asn)
c.4514G>A (p.Ser1505Asn)
c.4307G>A (p.Ser1436Asn)
c.1010G>A (p.Ser337Asn)
c.1055G>A (p.Ser352Asn)
c.4511G>A (p.Ser1504Asn)
c.835G>A
c.1022G>A (p.Ser341Asn)
c.*4231G>A (n.*4231G>A)
c.761G>A (p.Ser254Asn)
c.764G>A (p.Ser255Asn)
c.5-12573G>A (n.5-12573G>A)
c.-43-2003G>A (n.-43-2003G>A)
c.-98-26334G>A (n.-98-26334G>A)
n.339G>A
n.4584G>A
n.4625G>A
 dbSNP
17g.43076524_43076525delinsCTCA2260775470BRCA1c.4444_4445delinsAG (p.Ser1482=)
c.4447_4448delinsAG (p.Ser1483=)
c.4321_4322delinsAG (p.Ser1441=)
c.4441_4442delinsAG (p.Ser1481=)
c.4369_4370delinsAG (p.Ser1457=)
c.1135_1136delinsAG (p.Ser379=)
c.997_998delinsAG (p.Ser333=)
c.3559_3560delinsAG (p.Ser1187=)
c.4324_4325delinsAG (p.Ser1442=)
c.4513_4514delinsAG (p.Ser1505=)
c.4306_4307delinsAG (p.Ser1436=)
c.1009_1010delinsAG (p.Ser337=)
c.1054_1055delinsAG (p.Ser352=)
c.4510_4511delinsAG (p.Ser1504=)
c.834_835delinsAG
c.1021_1022delinsAG (p.Ser341=)
c.*4230_*4231delinsAG (n.*4230_*4231delinsAG)
c.760_761delinsAG (p.Ser254=)
c.763_764delinsAG (p.Ser255=)
c.5-12574_5-12573delinsAG (n.5-12574_5-12573delinsAG)
c.-43-2004_-43-2003delinsAG (n.-43-2004_-43-2003delinsAG)
c.-98-26335_-98-26334delinsAG (n.-98-26335_-98-26334delinsAG)
n.338_339delinsAG
n.4583_4584delinsAG
n.4624_4625delinsAG
17g.43076525delCA002854BRCA1c.4444del (p.Ser1482ValfsTer22)
c.4447del (p.Ser1483ValfsTer22)
c.4321del (p.Ser1441ValfsTer22)
c.4441del (p.Ser1481ValfsTer22)
c.4369del (p.Ser1457ValfsTer22)
c.1135del (p.Ser379ValfsTer22)
c.997del (p.Ser333ValfsTer22)
c.3559del (p.Ser1187ValfsTer22)
c.4324del (p.Ser1442ValfsTer22)
c.4513del (p.Ser1505ValfsTer22)
c.4306del (p.Ser1436ValfsTer22)
c.1009del (p.Ser337ValfsTer22)
c.1054del (p.Ser352ValfsTer22)
c.4510del (p.Ser1504ValfsTer22)
c.834del
c.1021del (p.Ser341ValfsTer22)
c.*4230del (n.*4230del)
c.760del (p.Ser254ValfsTer22)
c.763del (p.Ser255ValfsTer?)
c.5-12574del (n.5-12574del)
c.-43-2004del (n.-43-2004del)
c.-98-26335del (n.-98-26335del)
n.338del
n.4583del
n.4624del
 ClinVar dbSNP
17g.43076525T>ACA10592640BRCA1c.4444A>T (p.Ser1482Cys)
c.4447A>T (p.Ser1483Cys)
c.4321A>T (p.Ser1441Cys)
c.4441A>T (p.Ser1481Cys)
c.4369A>T (p.Ser1457Cys)
c.1135A>T (p.Ser379Cys)
c.997A>T (p.Ser333Cys)
c.3559A>T (p.Ser1187Cys)
c.4324A>T (p.Ser1442Cys)
c.4513A>T (p.Ser1505Cys)
c.4306A>T (p.Ser1436Cys)
c.1009A>T (p.Ser337Cys)
c.1054A>T (p.Ser352Cys)
c.4510A>T (p.Ser1504Cys)
c.834A>T
c.1021A>T (p.Ser341Cys)
c.*4230A>T (n.*4230A>T)
c.760A>T (p.Ser254Cys)
c.763A>T (p.Ser255Cys)
c.5-12574A>T (n.5-12574A>T)
c.-43-2004A>T (n.-43-2004A>T)
c.-98-26335A>T (n.-98-26335A>T)
n.338A>T
n.4583A>T
n.4624A>T
 dbSNP COSMIC COSMIC
17g.43076525T>CCA10592641BRCA1c.4444A>G (p.Ser1482Gly)
c.4447A>G (p.Ser1483Gly)
c.4321A>G (p.Ser1441Gly)
c.4441A>G (p.Ser1481Gly)
c.4369A>G (p.Ser1457Gly)
c.1135A>G (p.Ser379Gly)
c.997A>G (p.Ser333Gly)
c.3559A>G (p.Ser1187Gly)
c.4324A>G (p.Ser1442Gly)
c.4513A>G (p.Ser1505Gly)
c.4306A>G (p.Ser1436Gly)
c.1009A>G (p.Ser337Gly)
c.1054A>G (p.Ser352Gly)
c.4510A>G (p.Ser1504Gly)
c.834A>G
c.1021A>G (p.Ser341Gly)
c.*4230A>G (n.*4230A>G)
c.760A>G (p.Ser254Gly)
c.763A>G (p.Ser255Gly)
c.5-12574A>G (n.5-12574A>G)
c.-43-2004A>G (n.-43-2004A>G)
c.-98-26335A>G (n.-98-26335A>G)
n.338A>G
n.4583A>G
n.4624A>G
17g.43076525T>GCA10592642BRCA1c.4444A>C (p.Ser1482Arg)
c.4447A>C (p.Ser1483Arg)
c.4321A>C (p.Ser1441Arg)
c.4441A>C (p.Ser1481Arg)
c.4369A>C (p.Ser1457Arg)
c.1135A>C (p.Ser379Arg)
c.997A>C (p.Ser333Arg)
c.3559A>C (p.Ser1187Arg)
c.4324A>C (p.Ser1442Arg)
c.4513A>C (p.Ser1505Arg)
c.4306A>C (p.Ser1436Arg)
c.1009A>C (p.Ser337Arg)
c.1054A>C (p.Ser352Arg)
c.4510A>C (p.Ser1504Arg)
c.834A>C
c.1021A>C (p.Ser341Arg)
c.*4230A>C (n.*4230A>C)
c.760A>C (p.Ser254Arg)
c.763A>C (p.Ser255Arg)
c.5-12574A>C (n.5-12574A>C)
c.-43-2004A>C (n.-43-2004A>C)
c.-98-26335A>C (n.-98-26335A>C)
n.338A>C
n.4583A>C
n.4624A>C
 ClinVar dbSNP gnomAD v4
17g.43076525T=CA2260775472BRCA1c.4444A= (p.Ser1482=)
c.4447A= (p.Ser1483=)
c.4321A= (p.Ser1441=)
c.4441A= (p.Ser1481=)
c.4369A= (p.Ser1457=)
c.1135A= (p.Ser379=)
c.997A= (p.Ser333=)
c.3559A= (p.Ser1187=)
c.4324A= (p.Ser1442=)
c.4513A= (p.Ser1505=)
c.4306A= (p.Ser1436=)
c.1009A= (p.Ser337=)
c.1054A= (p.Ser352=)
c.4510A= (p.Ser1504=)
c.834A=
c.1021A= (p.Ser341=)
c.*4230A= (n.*4230A=)
c.760A= (p.Ser254=)
c.763A= (p.Ser255=)
c.5-12574A= (n.5-12574A=)
c.-43-2004A= (n.-43-2004A=)
c.-98-26335A= (n.-98-26335A=)
n.338A=
n.4583A=
n.4624A=
17g.43076526A=CA2260775473BRCA1c.4443T= (p.Asp1481=)
c.4446T= (p.Asp1482=)
c.4320T= (p.Asp1440=)
c.4440T= (p.Asp1480=)
c.4368T= (p.Asp1456=)
c.1134T= (p.Asp378=)
c.996T= (p.Asp332=)
c.3558T= (p.Asp1186=)
c.4323T= (p.Asp1441=)
c.4512T= (p.Asp1504=)
c.4305T= (p.Asp1435=)
c.1008T= (p.Asp336=)
c.1053T= (p.Asp351=)
c.4509T= (p.Asp1503=)
c.833T=
c.1020T= (p.Asp340=)
c.*4229T= (n.*4229T=)
c.759T= (p.Asp253=)
c.762T= (p.Asp254=)
c.5-12575T= (n.5-12575T=)
c.-43-2005T= (n.-43-2005T=)
c.-98-26336T= (n.-98-26336T=)
n.337T=
n.4582T=
n.4623T=
17g.43076526A>CCA10592643BRCA1c.4443T>G (p.Asp1481Glu)
c.4446T>G (p.Asp1482Glu)
c.4320T>G (p.Asp1440Glu)
c.4440T>G (p.Asp1480Glu)
c.4368T>G (p.Asp1456Glu)
c.1134T>G (p.Asp378Glu)
c.996T>G (p.Asp332Glu)
c.3558T>G (p.Asp1186Glu)
c.4323T>G (p.Asp1441Glu)
c.4512T>G (p.Asp1504Glu)
c.4305T>G (p.Asp1435Glu)
c.1008T>G (p.Asp336Glu)
c.1053T>G (p.Asp351Glu)
c.4509T>G (p.Asp1503Glu)
c.833T>G
c.1020T>G (p.Asp340Glu)
c.*4229T>G (n.*4229T>G)
c.759T>G (p.Asp253Glu)
c.762T>G (p.Asp254Glu)
c.5-12575T>G (n.5-12575T>G)
c.-43-2005T>G (n.-43-2005T>G)
c.-98-26336T>G (n.-98-26336T>G)
n.337T>G
n.4582T>G
n.4623T>G
 ClinVar dbSNP
17g.43076526A>GCA500146798BRCA1c.4443T>C (p.Asp1481=)
c.4446T>C (p.Asp1482=)
c.4320T>C (p.Asp1440=)
c.4440T>C (p.Asp1480=)
c.4368T>C (p.Asp1456=)
c.1134T>C (p.Asp378=)
c.996T>C (p.Asp332=)
c.3558T>C (p.Asp1186=)
c.4323T>C (p.Asp1441=)
c.4512T>C (p.Asp1504=)
c.4305T>C (p.Asp1435=)
c.1008T>C (p.Asp336=)
c.1053T>C (p.Asp351=)
c.4509T>C (p.Asp1503=)
c.833T>C
c.1020T>C (p.Asp340=)
c.*4229T>C (n.*4229T>C)
c.759T>C (p.Asp253=)
c.762T>C (p.Asp254=)
c.5-12575T>C (n.5-12575T>C)
c.-43-2005T>C (n.-43-2005T>C)
c.-98-26336T>C (n.-98-26336T>C)
n.337T>C
n.4582T>C
n.4623T>C
 ClinVar dbSNP
17g.43076526A>TCA10592644BRCA1c.4443T>A (p.Asp1481Glu)
c.4446T>A (p.Asp1482Glu)
c.4320T>A (p.Asp1440Glu)
c.4440T>A (p.Asp1480Glu)
c.4368T>A (p.Asp1456Glu)
c.1134T>A (p.Asp378Glu)
c.996T>A (p.Asp332Glu)
c.3558T>A (p.Asp1186Glu)
c.4323T>A (p.Asp1441Glu)
c.4512T>A (p.Asp1504Glu)
c.4305T>A (p.Asp1435Glu)
c.1008T>A (p.Asp336Glu)
c.1053T>A (p.Asp351Glu)
c.4509T>A (p.Asp1503Glu)
c.833T>A
c.1020T>A (p.Asp340Glu)
c.*4229T>A (n.*4229T>A)
c.759T>A (p.Asp253Glu)
c.762T>A (p.Asp254Glu)
c.5-12575T>A (n.5-12575T>A)
c.-43-2005T>A (n.-43-2005T>A)
c.-98-26336T>A (n.-98-26336T>A)
n.337T>A
n.4582T>A
n.4623T>A
 ClinVar dbSNP
17g.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCTCA2562367312BRCA1c.4442_4443insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1481GlufsTer6)
c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1482GlufsTer6)
c.4319_4320insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1440GlufsTer6)
c.4439_4440insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1480GlufsTer6)
c.4367_4368insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1456GlufsTer6)
c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp378GlufsTer6)
c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp332GlufsTer6)
c.3557_3558insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1186GlufsTer6)
c.4322_4323insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1441GlufsTer6)
c.4511_4512insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1504GlufsTer6)
c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1435GlufsTer6)
c.1007_1008insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp336GlufsTer6)
c.1052_1053insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp351GlufsTer6)
c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1503GlufsTer6)
c.832_833insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
c.1019_1020insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp340GlufsTer6)
c.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.758_759insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp253GlufsTer6)
c.761_762insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp254GlufsTer6)
c.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
n.336_337insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
n.4581_4582insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
n.4622_4623insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
17g.43076527T>ACA052298BRCA1c.4442A>T (p.Asp1481Val)
c.4445A>T (p.Asp1482Val)
c.4319A>T (p.Asp1440Val)
c.4439A>T (p.Asp1480Val)
c.4367A>T (p.Asp1456Val)
c.1133A>T (p.Asp378Val)
c.995A>T (p.Asp332Val)
c.3557A>T (p.Asp1186Val)
c.4322A>T (p.Asp1441Val)
c.4511A>T (p.Asp1504Val)
c.4304A>T (p.Asp1435Val)
c.1007A>T (p.Asp336Val)
c.1052A>T (p.Asp351Val)
c.4508A>T (p.Asp1503Val)
c.832A>T
c.1019A>T (p.Asp340Val)
c.*4228A>T (n.*4228A>T)
c.758A>T (p.Asp253Val)
c.761A>T (p.Asp254Val)
c.5-12576A>T (n.5-12576A>T)
c.-43-2006A>T (n.-43-2006A>T)
c.-98-26337A>T (n.-98-26337A>T)
n.336A>T
n.4581A>T
n.4622A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076527T>CCA10592645BRCA1c.4442A>G (p.Asp1481Gly)
c.4445A>G (p.Asp1482Gly)
c.4319A>G (p.Asp1440Gly)
c.4439A>G (p.Asp1480Gly)
c.4367A>G (p.Asp1456Gly)
c.1133A>G (p.Asp378Gly)
c.995A>G (p.Asp332Gly)
c.3557A>G (p.Asp1186Gly)
c.4322A>G (p.Asp1441Gly)
c.4511A>G (p.Asp1504Gly)
c.4304A>G (p.Asp1435Gly)
c.1007A>G (p.Asp336Gly)
c.1052A>G (p.Asp351Gly)
c.4508A>G (p.Asp1503Gly)
c.832A>G
c.1019A>G (p.Asp340Gly)
c.*4228A>G (n.*4228A>G)
c.758A>G (p.Asp253Gly)
c.761A>G (p.Asp254Gly)
c.5-12576A>G (n.5-12576A>G)
c.-43-2006A>G (n.-43-2006A>G)
c.-98-26337A>G (n.-98-26337A>G)
n.336A>G
n.4581A>G
n.4622A>G
 ClinVar dbSNP

Number of alleles fetched