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.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.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
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
17g.43076506T>GCA10592600BRCA1c.4463A>C (p.Lys1488Thr)
c.4466A>C (p.Lys1489Thr)
c.4340A>C (p.Lys1447Thr)
c.4460A>C (p.Lys1487Thr)
c.4388A>C (p.Lys1463Thr)
c.1154A>C (p.Lys385Thr)
c.1016A>C (p.Lys339Thr)
c.3578A>C (p.Lys1193Thr)
c.4343A>C (p.Lys1448Thr)
c.4532A>C (p.Lys1511Thr)
c.4325A>C (p.Lys1442Thr)
c.1028A>C (p.Lys343Thr)
c.1073A>C (p.Lys358Thr)
c.4529A>C (p.Lys1510Thr)
c.853A>C
c.1040A>C (p.Lys347Thr)
c.*4249A>C (n.*4249A>C)
c.779A>C (p.Lys260Thr)
c.782A>C (p.Lys261Thr)
c.5-12555A>C (n.5-12555A>C)
c.-43-1985A>C (n.-43-1985A>C)
c.-98-26316A>C (n.-98-26316A>C)
n.357A>C
n.4602A>C
n.4643A>C
17g.43076506T=CA2260775455BRCA1c.4463A= (p.Lys1488=)
c.4466A= (p.Lys1489=)
c.4340A= (p.Lys1447=)
c.4460A= (p.Lys1487=)
c.4388A= (p.Lys1463=)
c.1154A= (p.Lys385=)
c.1016A= (p.Lys339=)
c.3578A= (p.Lys1193=)
c.4343A= (p.Lys1448=)
c.4532A= (p.Lys1511=)
c.4325A= (p.Lys1442=)
c.1028A= (p.Lys343=)
c.1073A= (p.Lys358=)
c.4529A= (p.Lys1510=)
c.853A=
c.1040A= (p.Lys347=)
c.*4249A= (n.*4249A=)
c.779A= (p.Lys260=)
c.782A= (p.Lys261=)
c.5-12555A= (n.5-12555A=)
c.-43-1985A= (n.-43-1985A=)
c.-98-26316A= (n.-98-26316A=)
n.357A=
n.4602A=
n.4643A=
17g.43076507T>ACA10592601BRCA1c.4462A>T (p.Lys1488Ter)
c.4465A>T (p.Lys1489Ter)
c.4339A>T (p.Lys1447Ter)
c.4459A>T (p.Lys1487Ter)
c.4387A>T (p.Lys1463Ter)
c.1153A>T (p.Lys385Ter)
c.1015A>T (p.Lys339Ter)
c.3577A>T (p.Lys1193Ter)
c.4342A>T (p.Lys1448Ter)
c.4531A>T (p.Lys1511Ter)
c.4324A>T (p.Lys1442Ter)
c.1027A>T (p.Lys343Ter)
c.1072A>T (p.Lys358Ter)
c.4528A>T (p.Lys1510Ter)
c.852A>T
c.1039A>T (p.Lys347Ter)
c.*4248A>T (n.*4248A>T)
c.778A>T (p.Lys260Ter)
c.781A>T (p.Lys261Ter)
c.5-12556A>T (n.5-12556A>T)
c.-43-1986A>T (n.-43-1986A>T)
c.-98-26317A>T (n.-98-26317A>T)
n.356A>T
n.4601A>T
n.4642A>T
17g.43076507T>CCA10592602BRCA1c.4462A>G (p.Lys1488Glu)
c.4465A>G (p.Lys1489Glu)
c.4339A>G (p.Lys1447Glu)
c.4459A>G (p.Lys1487Glu)
c.4387A>G (p.Lys1463Glu)
c.1153A>G (p.Lys385Glu)
c.1015A>G (p.Lys339Glu)
c.3577A>G (p.Lys1193Glu)
c.4342A>G (p.Lys1448Glu)
c.4531A>G (p.Lys1511Glu)
c.4324A>G (p.Lys1442Glu)
c.1027A>G (p.Lys343Glu)
c.1072A>G (p.Lys358Glu)
c.4528A>G (p.Lys1510Glu)
c.852A>G
c.1039A>G (p.Lys347Glu)
c.*4248A>G (n.*4248A>G)
c.778A>G (p.Lys260Glu)
c.781A>G (p.Lys261Glu)
c.5-12556A>G (n.5-12556A>G)
c.-43-1986A>G (n.-43-1986A>G)
c.-98-26317A>G (n.-98-26317A>G)
n.356A>G
n.4601A>G
n.4642A>G
ClinVar dbSNP gnomAD v4
17g.43076507T>GCA10592603BRCA1c.4462A>C (p.Lys1488Gln)
c.4465A>C (p.Lys1489Gln)
c.4339A>C (p.Lys1447Gln)
c.4459A>C (p.Lys1487Gln)
c.4387A>C (p.Lys1463Gln)
c.1153A>C (p.Lys385Gln)
c.1015A>C (p.Lys339Gln)
c.3577A>C (p.Lys1193Gln)
c.4342A>C (p.Lys1448Gln)
c.4531A>C (p.Lys1511Gln)
c.4324A>C (p.Lys1442Gln)
c.1027A>C (p.Lys343Gln)
c.1072A>C (p.Lys358Gln)
c.4528A>C (p.Lys1510Gln)
c.852A>C
c.1039A>C (p.Lys347Gln)
c.*4248A>C (n.*4248A>C)
c.778A>C (p.Lys260Gln)
c.781A>C (p.Lys261Gln)
c.5-12556A>C (n.5-12556A>C)
c.-43-1986A>C (n.-43-1986A>C)
c.-98-26317A>C (n.-98-26317A>C)
n.356A>C
n.4601A>C
n.4642A>C
17g.43076507T=CA2260775456BRCA1c.4462A= (p.Lys1488=)
c.4465A= (p.Lys1489=)
c.4339A= (p.Lys1447=)
c.4459A= (p.Lys1487=)
c.4387A= (p.Lys1463=)
c.1153A= (p.Lys385=)
c.1015A= (p.Lys339=)
c.3577A= (p.Lys1193=)
c.4342A= (p.Lys1448=)
c.4531A= (p.Lys1511=)
c.4324A= (p.Lys1442=)
c.1027A= (p.Lys343=)
c.1072A= (p.Lys358=)
c.4528A= (p.Lys1510=)
c.852A=
c.1039A= (p.Lys347=)
c.*4248A= (n.*4248A=)
c.778A= (p.Lys260=)
c.781A= (p.Lys261=)
c.5-12556A= (n.5-12556A=)
c.-43-1986A= (n.-43-1986A=)
c.-98-26317A= (n.-98-26317A=)
n.356A=
n.4601A=
n.4642A=
17g.43076508A=CA2260775457BRCA1c.4461T= (p.Asn1487=)
c.4464T= (p.Asn1488=)
c.4338T= (p.Asn1446=)
c.4458T= (p.Asn1486=)
c.4386T= (p.Asn1462=)
c.1152T= (p.Asn384=)
c.1014T= (p.Asn338=)
c.3576T= (p.Asn1192=)
c.4341T= (p.Asn1447=)
c.4530T= (p.Asn1510=)
c.4323T= (p.Asn1441=)
c.1026T= (p.Asn342=)
c.1071T= (p.Asn357=)
c.4527T= (p.Asn1509=)
c.851T=
c.1038T= (p.Asn346=)
c.*4247T= (n.*4247T=)
c.777T= (p.Asn259=)
c.780T= (p.Asn260=)
c.5-12557T= (n.5-12557T=)
c.-43-1987T= (n.-43-1987T=)
c.-98-26318T= (n.-98-26318T=)
n.355T=
n.4600T=
n.4641T=
17g.43076508A>CCA10592604BRCA1c.4461T>G (p.Asn1487Lys)
c.4464T>G (p.Asn1488Lys)
c.4338T>G (p.Asn1446Lys)
c.4458T>G (p.Asn1486Lys)
c.4386T>G (p.Asn1462Lys)
c.1152T>G (p.Asn384Lys)
c.1014T>G (p.Asn338Lys)
c.3576T>G (p.Asn1192Lys)
c.4341T>G (p.Asn1447Lys)
c.4530T>G (p.Asn1510Lys)
c.4323T>G (p.Asn1441Lys)
c.1026T>G (p.Asn342Lys)
c.1071T>G (p.Asn357Lys)
c.4527T>G (p.Asn1509Lys)
c.851T>G
c.1038T>G (p.Asn346Lys)
c.*4247T>G (n.*4247T>G)
c.777T>G (p.Asn259Lys)
c.780T>G (p.Asn260Lys)
c.5-12557T>G (n.5-12557T>G)
c.-43-1987T>G (n.-43-1987T>G)
c.-98-26318T>G (n.-98-26318T>G)
n.355T>G
n.4600T>G
n.4641T>G
17g.43076508A>GCA500146788BRCA1c.4461T>C (p.Asn1487=)
c.4464T>C (p.Asn1488=)
c.4338T>C (p.Asn1446=)
c.4458T>C (p.Asn1486=)
c.4386T>C (p.Asn1462=)
c.1152T>C (p.Asn384=)
c.1014T>C (p.Asn338=)
c.3576T>C (p.Asn1192=)
c.4341T>C (p.Asn1447=)
c.4530T>C (p.Asn1510=)
c.4323T>C (p.Asn1441=)
c.1026T>C (p.Asn342=)
c.1071T>C (p.Asn357=)
c.4527T>C (p.Asn1509=)
c.851T>C
c.1038T>C (p.Asn346=)
c.*4247T>C (n.*4247T>C)
c.777T>C (p.Asn259=)
c.780T>C (p.Asn260=)
c.5-12557T>C (n.5-12557T>C)
c.-43-1987T>C (n.-43-1987T>C)
c.-98-26318T>C (n.-98-26318T>C)
n.355T>C
n.4600T>C
n.4641T>C
17g.43076508A>TCA10592605BRCA1c.4461T>A (p.Asn1487Lys)
c.4464T>A (p.Asn1488Lys)
c.4338T>A (p.Asn1446Lys)
c.4458T>A (p.Asn1486Lys)
c.4386T>A (p.Asn1462Lys)
c.1152T>A (p.Asn384Lys)
c.1014T>A (p.Asn338Lys)
c.3576T>A (p.Asn1192Lys)
c.4341T>A (p.Asn1447Lys)
c.4530T>A (p.Asn1510Lys)
c.4323T>A (p.Asn1441Lys)
c.1026T>A (p.Asn342Lys)
c.1071T>A (p.Asn357Lys)
c.4527T>A (p.Asn1509Lys)
c.851T>A
c.1038T>A (p.Asn346Lys)
c.*4247T>A (n.*4247T>A)
c.777T>A (p.Asn259Lys)
c.780T>A (p.Asn260Lys)
c.5-12557T>A (n.5-12557T>A)
c.-43-1987T>A (n.-43-1987T>A)
c.-98-26318T>A (n.-98-26318T>A)
n.355T>A
n.4600T>A
n.4641T>A
17g.43076509T>ACA10592606BRCA1c.4460A>T (p.Asn1487Ile)
c.4463A>T (p.Asn1488Ile)
c.4337A>T (p.Asn1446Ile)
c.4457A>T (p.Asn1486Ile)
c.4385A>T (p.Asn1462Ile)
c.1151A>T (p.Asn384Ile)
c.1013A>T (p.Asn338Ile)
c.3575A>T (p.Asn1192Ile)
c.4340A>T (p.Asn1447Ile)
c.4529A>T (p.Asn1510Ile)
c.4322A>T (p.Asn1441Ile)
c.1025A>T (p.Asn342Ile)
c.1070A>T (p.Asn357Ile)
c.4526A>T (p.Asn1509Ile)
c.850A>T
c.1037A>T (p.Asn346Ile)
c.*4246A>T (n.*4246A>T)
c.776A>T (p.Asn259Ile)
c.779A>T (p.Asn260Ile)
c.5-12558A>T (n.5-12558A>T)
c.-43-1988A>T (n.-43-1988A>T)
c.-98-26319A>T (n.-98-26319A>T)
n.354A>T
n.4599A>T
n.4640A>T
17g.43076509T>CCA10592607BRCA1c.4460A>G (p.Asn1487Ser)
c.4463A>G (p.Asn1488Ser)
c.4337A>G (p.Asn1446Ser)
c.4457A>G (p.Asn1486Ser)
c.4385A>G (p.Asn1462Ser)
c.1151A>G (p.Asn384Ser)
c.1013A>G (p.Asn338Ser)
c.3575A>G (p.Asn1192Ser)
c.4340A>G (p.Asn1447Ser)
c.4529A>G (p.Asn1510Ser)
c.4322A>G (p.Asn1441Ser)
c.1025A>G (p.Asn342Ser)
c.1070A>G (p.Asn357Ser)
c.4526A>G (p.Asn1509Ser)
c.850A>G
c.1037A>G (p.Asn346Ser)
c.*4246A>G (n.*4246A>G)
c.776A>G (p.Asn259Ser)
c.779A>G (p.Asn260Ser)
c.5-12558A>G (n.5-12558A>G)
c.-43-1988A>G (n.-43-1988A>G)
c.-98-26319A>G (n.-98-26319A>G)
n.354A>G
n.4599A>G
n.4640A>G
17g.43076509T>GCA10592608BRCA1c.4460A>C (p.Asn1487Thr)
c.4463A>C (p.Asn1488Thr)
c.4337A>C (p.Asn1446Thr)
c.4457A>C (p.Asn1486Thr)
c.4385A>C (p.Asn1462Thr)
c.1151A>C (p.Asn384Thr)
c.1013A>C (p.Asn338Thr)
c.3575A>C (p.Asn1192Thr)
c.4340A>C (p.Asn1447Thr)
c.4529A>C (p.Asn1510Thr)
c.4322A>C (p.Asn1441Thr)
c.1025A>C (p.Asn342Thr)
c.1070A>C (p.Asn357Thr)
c.4526A>C (p.Asn1509Thr)
c.850A>C
c.1037A>C (p.Asn346Thr)
c.*4246A>C (n.*4246A>C)
c.776A>C (p.Asn259Thr)
c.779A>C (p.Asn260Thr)
c.5-12558A>C (n.5-12558A>C)
c.-43-1988A>C (n.-43-1988A>C)
c.-98-26319A>C (n.-98-26319A>C)
n.354A>C
n.4599A>C
n.4640A>C
ClinVar dbSNP
17g.43076509T=CA2260775458BRCA1c.4460A= (p.Asn1487=)
c.4463A= (p.Asn1488=)
c.4337A= (p.Asn1446=)
c.4457A= (p.Asn1486=)
c.4385A= (p.Asn1462=)
c.1151A= (p.Asn384=)
c.1013A= (p.Asn338=)
c.3575A= (p.Asn1192=)
c.4340A= (p.Asn1447=)
c.4529A= (p.Asn1510=)
c.4322A= (p.Asn1441=)
c.1025A= (p.Asn342=)
c.1070A= (p.Asn357=)
c.4526A= (p.Asn1509=)
c.850A=
c.1037A= (p.Asn346=)
c.*4246A= (n.*4246A=)
c.776A= (p.Asn259=)
c.779A= (p.Asn260=)
c.5-12558A= (n.5-12558A=)
c.-43-1988A= (n.-43-1988A=)
c.-98-26319A= (n.-98-26319A=)
n.354A=
n.4599A=
n.4640A=
17g.43076513dupCA002862BRCA1c.4460dup (p.Asn1487LysfsTer2)
c.4463dup (p.Asn1488LysfsTer2)
c.4337dup (p.Asn1446LysfsTer2)
c.4457dup (p.Asn1486LysfsTer2)
c.4385dup (p.Asn1462LysfsTer2)
c.1151dup (p.Asn384LysfsTer2)
c.1013dup (p.Asn338LysfsTer2)
c.3575dup (p.Asn1192LysfsTer2)
c.4340dup (p.Asn1447LysfsTer2)
c.4529dup (p.Asn1510LysfsTer2)
c.4322dup (p.Asn1441LysfsTer2)
c.1025dup (p.Asn342LysfsTer2)
c.1070dup (p.Asn357LysfsTer2)
c.4526dup (p.Asn1509LysfsTer2)
c.850dup
c.1037dup (p.Asn346LysfsTer2)
c.*4246dup (n.*4246dup)
c.776dup (p.Asn259LysfsTer2)
c.779dup (p.Asn260LysfsTer2)
c.5-12558dup (n.5-12558dup)
c.-43-1988dup (n.-43-1988dup)
c.-98-26319dup (n.-98-26319dup)
n.354dup
n.4599dup
n.4640dup
ClinVar dbSNP
17g.43076510T>ACA10592609BRCA1c.4459A>T (p.Asn1487Tyr)
c.4462A>T (p.Asn1488Tyr)
c.4336A>T (p.Asn1446Tyr)
c.4456A>T (p.Asn1486Tyr)
c.4384A>T (p.Asn1462Tyr)
c.1150A>T (p.Asn384Tyr)
c.1012A>T (p.Asn338Tyr)
c.3574A>T (p.Asn1192Tyr)
c.4339A>T (p.Asn1447Tyr)
c.4528A>T (p.Asn1510Tyr)
c.4321A>T (p.Asn1441Tyr)
c.1024A>T (p.Asn342Tyr)
c.1069A>T (p.Asn357Tyr)
c.4525A>T (p.Asn1509Tyr)
c.849A>T
c.1036A>T (p.Asn346Tyr)
c.*4245A>T (n.*4245A>T)
c.775A>T (p.Asn259Tyr)
c.778A>T (p.Asn260Tyr)
c.5-12559A>T (n.5-12559A>T)
c.-43-1989A>T (n.-43-1989A>T)
c.-98-26320A>T (n.-98-26320A>T)
n.353A>T
n.4598A>T
n.4639A>T
17g.43076510T>CCA10592610BRCA1c.4459A>G (p.Asn1487Asp)
c.4462A>G (p.Asn1488Asp)
c.4336A>G (p.Asn1446Asp)
c.4456A>G (p.Asn1486Asp)
c.4384A>G (p.Asn1462Asp)
c.1150A>G (p.Asn384Asp)
c.1012A>G (p.Asn338Asp)
c.3574A>G (p.Asn1192Asp)
c.4339A>G (p.Asn1447Asp)
c.4528A>G (p.Asn1510Asp)
c.4321A>G (p.Asn1441Asp)
c.1024A>G (p.Asn342Asp)
c.1069A>G (p.Asn357Asp)
c.4525A>G (p.Asn1509Asp)
c.849A>G
c.1036A>G (p.Asn346Asp)
c.*4245A>G (n.*4245A>G)
c.775A>G (p.Asn259Asp)
c.778A>G (p.Asn260Asp)
c.5-12559A>G (n.5-12559A>G)
c.-43-1989A>G (n.-43-1989A>G)
c.-98-26320A>G (n.-98-26320A>G)
n.353A>G
n.4598A>G
n.4639A>G
17g.43076510T>GCA10592611BRCA1c.4459A>C (p.Asn1487His)
c.4462A>C (p.Asn1488His)
c.4336A>C (p.Asn1446His)
c.4456A>C (p.Asn1486His)
c.4384A>C (p.Asn1462His)
c.1150A>C (p.Asn384His)
c.1012A>C (p.Asn338His)
c.3574A>C (p.Asn1192His)
c.4339A>C (p.Asn1447His)
c.4528A>C (p.Asn1510His)
c.4321A>C (p.Asn1441His)
c.1024A>C (p.Asn342His)
c.1069A>C (p.Asn357His)
c.4525A>C (p.Asn1509His)
c.849A>C
c.1036A>C (p.Asn346His)
c.*4245A>C (n.*4245A>C)
c.775A>C (p.Asn259His)
c.778A>C (p.Asn260His)
c.5-12559A>C (n.5-12559A>C)
c.-43-1989A>C (n.-43-1989A>C)
c.-98-26320A>C (n.-98-26320A>C)
n.353A>C
n.4598A>C
n.4639A>C
17g.43076511T>ACA10592612BRCA1c.4458A>T (p.Lys1486Asn)
c.4461A>T (p.Lys1487Asn)
c.4335A>T (p.Lys1445Asn)
c.4455A>T (p.Lys1485Asn)
c.4383A>T (p.Lys1461Asn)
c.1149A>T (p.Lys383Asn)
c.1011A>T (p.Lys337Asn)
c.3573A>T (p.Lys1191Asn)
c.4338A>T (p.Lys1446Asn)
c.4527A>T (p.Lys1509Asn)
c.4320A>T (p.Lys1440Asn)
c.1023A>T (p.Lys341Asn)
c.1068A>T (p.Lys356Asn)
c.4524A>T (p.Lys1508Asn)
c.848A>T
c.1035A>T (p.Lys345Asn)
c.*4244A>T (n.*4244A>T)
c.774A>T (p.Lys258Asn)
c.777A>T (p.Lys259Asn)
c.5-12560A>T (n.5-12560A>T)
c.-43-1990A>T (n.-43-1990A>T)
c.-98-26321A>T (n.-98-26321A>T)
n.352A>T
n.4597A>T
n.4638A>T
17g.43076511T>CCA500146789BRCA1c.4458A>G (p.Lys1486=)
c.4461A>G (p.Lys1487=)
c.4335A>G (p.Lys1445=)
c.4455A>G (p.Lys1485=)
c.4383A>G (p.Lys1461=)
c.1149A>G (p.Lys383=)
c.1011A>G (p.Lys337=)
c.3573A>G (p.Lys1191=)
c.4338A>G (p.Lys1446=)
c.4527A>G (p.Lys1509=)
c.4320A>G (p.Lys1440=)
c.1023A>G (p.Lys341=)
c.1068A>G (p.Lys356=)
c.4524A>G (p.Lys1508=)
c.848A>G
c.1035A>G (p.Lys345=)
c.*4244A>G (n.*4244A>G)
c.774A>G (p.Lys258=)
c.777A>G (p.Lys259=)
c.5-12560A>G (n.5-12560A>G)
c.-43-1990A>G (n.-43-1990A>G)
c.-98-26321A>G (n.-98-26321A>G)
n.352A>G
n.4597A>G
n.4638A>G
17g.43076511T>GCA10592613BRCA1c.4458A>C (p.Lys1486Asn)
c.4461A>C (p.Lys1487Asn)
c.4335A>C (p.Lys1445Asn)
c.4455A>C (p.Lys1485Asn)
c.4383A>C (p.Lys1461Asn)
c.1149A>C (p.Lys383Asn)
c.1011A>C (p.Lys337Asn)
c.3573A>C (p.Lys1191Asn)
c.4338A>C (p.Lys1446Asn)
c.4527A>C (p.Lys1509Asn)
c.4320A>C (p.Lys1440Asn)
c.1023A>C (p.Lys341Asn)
c.1068A>C (p.Lys356Asn)
c.4524A>C (p.Lys1508Asn)
c.848A>C
c.1035A>C (p.Lys345Asn)
c.*4244A>C (n.*4244A>C)
c.774A>C (p.Lys258Asn)
c.777A>C (p.Lys259Asn)
c.5-12560A>C (n.5-12560A>C)
c.-43-1990A>C (n.-43-1990A>C)
c.-98-26321A>C (n.-98-26321A>C)
n.352A>C
n.4597A>C
n.4638A>C
17g.43076512T>ACA10592614BRCA1c.4457A>T (p.Lys1486Ile)
c.4460A>T (p.Lys1487Ile)
c.4334A>T (p.Lys1445Ile)
c.4454A>T (p.Lys1485Ile)
c.4382A>T (p.Lys1461Ile)
c.1148A>T (p.Lys383Ile)
c.1010A>T (p.Lys337Ile)
c.3572A>T (p.Lys1191Ile)
c.4337A>T (p.Lys1446Ile)
c.4526A>T (p.Lys1509Ile)
c.4319A>T (p.Lys1440Ile)
c.1022A>T (p.Lys341Ile)
c.1067A>T (p.Lys356Ile)
c.4523A>T (p.Lys1508Ile)
c.847A>T
c.1034A>T (p.Lys345Ile)
c.*4243A>T (n.*4243A>T)
c.773A>T (p.Lys258Ile)
c.776A>T (p.Lys259Ile)
c.5-12561A>T (n.5-12561A>T)
c.-43-1991A>T (n.-43-1991A>T)
c.-98-26322A>T (n.-98-26322A>T)
n.351A>T
n.4596A>T
n.4637A>T
dbSNP
17g.43076512T>CCA002861BRCA1c.4457A>G (p.Lys1486Arg)
c.4460A>G (p.Lys1487Arg)
c.4334A>G (p.Lys1445Arg)
c.4454A>G (p.Lys1485Arg)
c.4382A>G (p.Lys1461Arg)
c.1148A>G (p.Lys383Arg)
c.1010A>G (p.Lys337Arg)
c.3572A>G (p.Lys1191Arg)
c.4337A>G (p.Lys1446Arg)
c.4526A>G (p.Lys1509Arg)
c.4319A>G (p.Lys1440Arg)
c.1022A>G (p.Lys341Arg)
c.1067A>G (p.Lys356Arg)
c.4523A>G (p.Lys1508Arg)
c.847A>G
c.1034A>G (p.Lys345Arg)
c.*4243A>G (n.*4243A>G)
c.773A>G (p.Lys258Arg)
c.776A>G (p.Lys259Arg)
c.5-12561A>G (n.5-12561A>G)
c.-43-1991A>G (n.-43-1991A>G)
c.-98-26322A>G (n.-98-26322A>G)
n.351A>G
n.4596A>G
n.4637A>G
ClinVar dbSNP
17g.43076512T>GCA10592615BRCA1c.4457A>C (p.Lys1486Thr)
c.4460A>C (p.Lys1487Thr)
c.4334A>C (p.Lys1445Thr)
c.4454A>C (p.Lys1485Thr)
c.4382A>C (p.Lys1461Thr)
c.1148A>C (p.Lys383Thr)
c.1010A>C (p.Lys337Thr)
c.3572A>C (p.Lys1191Thr)
c.4337A>C (p.Lys1446Thr)
c.4526A>C (p.Lys1509Thr)
c.4319A>C (p.Lys1440Thr)
c.1022A>C (p.Lys341Thr)
c.1067A>C (p.Lys356Thr)
c.4523A>C (p.Lys1508Thr)
c.847A>C
c.1034A>C (p.Lys345Thr)
c.*4243A>C (n.*4243A>C)
c.773A>C (p.Lys258Thr)
c.776A>C (p.Lys259Thr)
c.5-12561A>C (n.5-12561A>C)
c.-43-1991A>C (n.-43-1991A>C)
c.-98-26322A>C (n.-98-26322A>C)
n.351A>C
n.4596A>C
n.4637A>C
17g.43076512T=CA2260775459BRCA1c.4457A= (p.Lys1486=)
c.4460A= (p.Lys1487=)
c.4334A= (p.Lys1445=)
c.4454A= (p.Lys1485=)
c.4382A= (p.Lys1461=)
c.1148A= (p.Lys383=)
c.1010A= (p.Lys337=)
c.3572A= (p.Lys1191=)
c.4337A= (p.Lys1446=)
c.4526A= (p.Lys1509=)
c.4319A= (p.Lys1440=)
c.1022A= (p.Lys341=)
c.1067A= (p.Lys356=)
c.4523A= (p.Lys1508=)
c.847A=
c.1034A= (p.Lys345=)
c.*4243A= (n.*4243A=)
c.773A= (p.Lys258=)
c.776A= (p.Lys259=)
c.5-12561A= (n.5-12561A=)
c.-43-1991A= (n.-43-1991A=)
c.-98-26322A= (n.-98-26322A=)
n.351A=
n.4596A=
n.4637A=
17g.43076513T>ACA10592616BRCA1c.4456A>T (p.Lys1486Ter)
c.4459A>T (p.Lys1487Ter)
c.4333A>T (p.Lys1445Ter)
c.4453A>T (p.Lys1485Ter)
c.4381A>T (p.Lys1461Ter)
c.1147A>T (p.Lys383Ter)
c.1009A>T (p.Lys337Ter)
c.3571A>T (p.Lys1191Ter)
c.4336A>T (p.Lys1446Ter)
c.4525A>T (p.Lys1509Ter)
c.4318A>T (p.Lys1440Ter)
c.1021A>T (p.Lys341Ter)
c.1066A>T (p.Lys356Ter)
c.4522A>T (p.Lys1508Ter)
c.846A>T
c.1033A>T (p.Lys345Ter)
c.*4242A>T (n.*4242A>T)
c.772A>T (p.Lys258Ter)
c.775A>T (p.Lys259Ter)
c.5-12562A>T (n.5-12562A>T)
c.-43-1992A>T (n.-43-1992A>T)
c.-98-26323A>T (n.-98-26323A>T)
n.350A>T
n.4595A>T
n.4636A>T
17g.43076513T>CCA10592617BRCA1c.4456A>G (p.Lys1486Glu)
c.4459A>G (p.Lys1487Glu)
c.4333A>G (p.Lys1445Glu)
c.4453A>G (p.Lys1485Glu)
c.4381A>G (p.Lys1461Glu)
c.1147A>G (p.Lys383Glu)
c.1009A>G (p.Lys337Glu)
c.3571A>G (p.Lys1191Glu)
c.4336A>G (p.Lys1446Glu)
c.4525A>G (p.Lys1509Glu)
c.4318A>G (p.Lys1440Glu)
c.1021A>G (p.Lys341Glu)
c.1066A>G (p.Lys356Glu)
c.4522A>G (p.Lys1508Glu)
c.846A>G
c.1033A>G (p.Lys345Glu)
c.*4242A>G (n.*4242A>G)
c.772A>G (p.Lys258Glu)
c.775A>G (p.Lys259Glu)
c.5-12562A>G (n.5-12562A>G)
c.-43-1992A>G (n.-43-1992A>G)
c.-98-26323A>G (n.-98-26323A>G)
n.350A>G
n.4595A>G
n.4636A>G
ClinVar

Number of alleles fetched