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.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.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
17g.43076513T>GCA10592618BRCA1c.4456A>C (p.Lys1486Gln)
c.4459A>C (p.Lys1487Gln)
c.4333A>C (p.Lys1445Gln)
c.4453A>C (p.Lys1485Gln)
c.4381A>C (p.Lys1461Gln)
c.1147A>C (p.Lys383Gln)
c.1009A>C (p.Lys337Gln)
c.3571A>C (p.Lys1191Gln)
c.4336A>C (p.Lys1446Gln)
c.4525A>C (p.Lys1509Gln)
c.4318A>C (p.Lys1440Gln)
c.1021A>C (p.Lys341Gln)
c.1066A>C (p.Lys356Gln)
c.4522A>C (p.Lys1508Gln)
c.846A>C
c.1033A>C (p.Lys345Gln)
c.*4242A>C (n.*4242A>C)
c.772A>C (p.Lys258Gln)
c.775A>C (p.Lys259Gln)
c.5-12562A>C (n.5-12562A>C)
c.-43-1992A>C (n.-43-1992A>C)
c.-98-26323A>C (n.-98-26323A>C)
n.350A>C
n.4595A>C
n.4636A>C
17g.43076514A=CA2260775461BRCA1c.4455T= (p.Ser1485=)
c.4458T= (p.Ser1486=)
c.4332T= (p.Ser1444=)
c.4452T= (p.Ser1484=)
c.4380T= (p.Ser1460=)
c.1146T= (p.Ser382=)
c.1008T= (p.Ser336=)
c.3570T= (p.Ser1190=)
c.4335T= (p.Ser1445=)
c.4524T= (p.Ser1508=)
c.4317T= (p.Ser1439=)
c.1020T= (p.Ser340=)
c.1065T= (p.Ser355=)
c.4521T= (p.Ser1507=)
c.845T=
c.1032T= (p.Ser344=)
c.*4241T= (n.*4241T=)
c.771T= (p.Ser257=)
c.774T= (p.Ser258=)
c.5-12563T= (n.5-12563T=)
c.-43-1993T= (n.-43-1993T=)
c.-98-26324T= (n.-98-26324T=)
n.349T=
n.4594T=
n.4635T=
17g.43076514A>CCA10585913BRCA1c.4455T>G (p.Ser1485Arg)
c.4458T>G (p.Ser1486Arg)
c.4332T>G (p.Ser1444Arg)
c.4452T>G (p.Ser1484Arg)
c.4380T>G (p.Ser1460Arg)
c.1146T>G (p.Ser382Arg)
c.1008T>G (p.Ser336Arg)
c.3570T>G (p.Ser1190Arg)
c.4335T>G (p.Ser1445Arg)
c.4524T>G (p.Ser1508Arg)
c.4317T>G (p.Ser1439Arg)
c.1020T>G (p.Ser340Arg)
c.1065T>G (p.Ser355Arg)
c.4521T>G (p.Ser1507Arg)
c.845T>G
c.1032T>G (p.Ser344Arg)
c.*4241T>G (n.*4241T>G)
c.771T>G (p.Ser257Arg)
c.774T>G (p.Ser258Arg)
c.5-12563T>G (n.5-12563T>G)
c.-43-1993T>G (n.-43-1993T>G)
c.-98-26324T>G (n.-98-26324T>G)
n.349T>G
n.4594T>G
n.4635T>G
 ClinVar dbSNP
17g.43076514A>GCA500146790BRCA1c.4455T>C (p.Ser1485=)
c.4458T>C (p.Ser1486=)
c.4332T>C (p.Ser1444=)
c.4452T>C (p.Ser1484=)
c.4380T>C (p.Ser1460=)
c.1146T>C (p.Ser382=)
c.1008T>C (p.Ser336=)
c.3570T>C (p.Ser1190=)
c.4335T>C (p.Ser1445=)
c.4524T>C (p.Ser1508=)
c.4317T>C (p.Ser1439=)
c.1020T>C (p.Ser340=)
c.1065T>C (p.Ser355=)
c.4521T>C (p.Ser1507=)
c.845T>C
c.1032T>C (p.Ser344=)
c.*4241T>C (n.*4241T>C)
c.771T>C (p.Ser257=)
c.774T>C (p.Ser258=)
c.5-12563T>C (n.5-12563T>C)
c.-43-1993T>C (n.-43-1993T>C)
c.-98-26324T>C (n.-98-26324T>C)
n.349T>C
n.4594T>C
n.4635T>C
17g.43076514A>TCA10592619BRCA1c.4455T>A (p.Ser1485Arg)
c.4458T>A (p.Ser1486Arg)
c.4332T>A (p.Ser1444Arg)
c.4452T>A (p.Ser1484Arg)
c.4380T>A (p.Ser1460Arg)
c.1146T>A (p.Ser382Arg)
c.1008T>A (p.Ser336Arg)
c.3570T>A (p.Ser1190Arg)
c.4335T>A (p.Ser1445Arg)
c.4524T>A (p.Ser1508Arg)
c.4317T>A (p.Ser1439Arg)
c.1020T>A (p.Ser340Arg)
c.1065T>A (p.Ser355Arg)
c.4521T>A (p.Ser1507Arg)
c.845T>A
c.1032T>A (p.Ser344Arg)
c.*4241T>A (n.*4241T>A)
c.771T>A (p.Ser257Arg)
c.774T>A (p.Ser258Arg)
c.5-12563T>A (n.5-12563T>A)
c.-43-1993T>A (n.-43-1993T>A)
c.-98-26324T>A (n.-98-26324T>A)
n.349T>A
n.4594T>A
n.4635T>A
 dbSNP
17g.43076514_43076515delinsACCA2260775460BRCA1c.4454_4455delinsGT (p.Ser1485=)
c.4457_4458delinsGT (p.Ser1486=)
c.4331_4332delinsGT (p.Ser1444=)
c.4451_4452delinsGT (p.Ser1484=)
c.4379_4380delinsGT (p.Ser1460=)
c.1145_1146delinsGT (p.Ser382=)
c.1007_1008delinsGT (p.Ser336=)
c.3569_3570delinsGT (p.Ser1190=)
c.4334_4335delinsGT (p.Ser1445=)
c.4523_4524delinsGT (p.Ser1508=)
c.4316_4317delinsGT (p.Ser1439=)
c.1019_1020delinsGT (p.Ser340=)
c.1064_1065delinsGT (p.Ser355=)
c.4520_4521delinsGT (p.Ser1507=)
c.844_845delinsGT
c.1031_1032delinsGT (p.Ser344=)
c.*4240_*4241delinsGT (n.*4240_*4241delinsGT)
c.770_771delinsGT (p.Ser257=)
c.773_774delinsGT (p.Ser258=)
c.5-12564_5-12563delinsGT (n.5-12564_5-12563delinsGT)
c.-43-1994_-43-1993delinsGT (n.-43-1994_-43-1993delinsGT)
c.-98-26325_-98-26324delinsGT (n.-98-26325_-98-26324delinsGT)
n.348_349delinsGT
n.4593_4594delinsGT
n.4634_4635delinsGT
17g.43076515delCA002860BRCA1c.4454del (p.Ser1485IlefsTer19)
c.4457del (p.Ser1486IlefsTer19)
c.4331del (p.Ser1444IlefsTer19)
c.4451del (p.Ser1484IlefsTer19)
c.4379del (p.Ser1460IlefsTer19)
c.1145del (p.Ser382IlefsTer19)
c.1007del (p.Ser336IlefsTer19)
c.3569del (p.Ser1190IlefsTer19)
c.4334del (p.Ser1445IlefsTer19)
c.4523del (p.Ser1508IlefsTer19)
c.4316del (p.Ser1439IlefsTer19)
c.1019del (p.Ser340IlefsTer19)
c.1064del (p.Ser355IlefsTer19)
c.4520del (p.Ser1507IlefsTer19)
c.844del
c.1031del (p.Ser344IlefsTer19)
c.*4240del (n.*4240del)
c.770del (p.Ser257IlefsTer19)
c.773del (p.Ser258IlefsTer?)
c.5-12564del (n.5-12564del)
c.-43-1994del (n.-43-1994del)
c.-98-26325del (n.-98-26325del)
n.348del
n.4593del
n.4634del
 ClinVar dbSNP
17g.43076515C>ACA10592620BRCA1c.4454G>T (p.Ser1485Ile)
c.4457G>T (p.Ser1486Ile)
c.4331G>T (p.Ser1444Ile)
c.4451G>T (p.Ser1484Ile)
c.4379G>T (p.Ser1460Ile)
c.1145G>T (p.Ser382Ile)
c.1007G>T (p.Ser336Ile)
c.3569G>T (p.Ser1190Ile)
c.4334G>T (p.Ser1445Ile)
c.4523G>T (p.Ser1508Ile)
c.4316G>T (p.Ser1439Ile)
c.1019G>T (p.Ser340Ile)
c.1064G>T (p.Ser355Ile)
c.4520G>T (p.Ser1507Ile)
c.844G>T
c.1031G>T (p.Ser344Ile)
c.*4240G>T (n.*4240G>T)
c.770G>T (p.Ser257Ile)
c.773G>T (p.Ser258Ile)
c.5-12564G>T (n.5-12564G>T)
c.-43-1994G>T (n.-43-1994G>T)
c.-98-26325G>T (n.-98-26325G>T)
n.348G>T
n.4593G>T
n.4634G>T
17g.43076515C=CA2260775462BRCA1c.4454G= (p.Ser1485=)
c.4457G= (p.Ser1486=)
c.4331G= (p.Ser1444=)
c.4451G= (p.Ser1484=)
c.4379G= (p.Ser1460=)
c.1145G= (p.Ser382=)
c.1007G= (p.Ser336=)
c.3569G= (p.Ser1190=)
c.4334G= (p.Ser1445=)
c.4523G= (p.Ser1508=)
c.4316G= (p.Ser1439=)
c.1019G= (p.Ser340=)
c.1064G= (p.Ser355=)
c.4520G= (p.Ser1507=)
c.844G=
c.1031G= (p.Ser344=)
c.*4240G= (n.*4240G=)
c.770G= (p.Ser257=)
c.773G= (p.Ser258=)
c.5-12564G= (n.5-12564G=)
c.-43-1994G= (n.-43-1994G=)
c.-98-26325G= (n.-98-26325G=)
n.348G=
n.4593G=
n.4634G=
17g.43076515C>GCA10592621BRCA1c.4454G>C (p.Ser1485Thr)
c.4457G>C (p.Ser1486Thr)
c.4331G>C (p.Ser1444Thr)
c.4451G>C (p.Ser1484Thr)
c.4379G>C (p.Ser1460Thr)
c.1145G>C (p.Ser382Thr)
c.1007G>C (p.Ser336Thr)
c.3569G>C (p.Ser1190Thr)
c.4334G>C (p.Ser1445Thr)
c.4523G>C (p.Ser1508Thr)
c.4316G>C (p.Ser1439Thr)
c.1019G>C (p.Ser340Thr)
c.1064G>C (p.Ser355Thr)
c.4520G>C (p.Ser1507Thr)
c.844G>C
c.1031G>C (p.Ser344Thr)
c.*4240G>C (n.*4240G>C)
c.770G>C (p.Ser257Thr)
c.773G>C (p.Ser258Thr)
c.5-12564G>C (n.5-12564G>C)
c.-43-1994G>C (n.-43-1994G>C)
c.-98-26325G>C (n.-98-26325G>C)
n.348G>C
n.4593G>C
n.4634G>C
 dbSNP
17g.43076515C>TCA10592622BRCA1c.4454G>A (p.Ser1485Asn)
c.4457G>A (p.Ser1486Asn)
c.4331G>A (p.Ser1444Asn)
c.4451G>A (p.Ser1484Asn)
c.4379G>A (p.Ser1460Asn)
c.1145G>A (p.Ser382Asn)
c.1007G>A (p.Ser336Asn)
c.3569G>A (p.Ser1190Asn)
c.4334G>A (p.Ser1445Asn)
c.4523G>A (p.Ser1508Asn)
c.4316G>A (p.Ser1439Asn)
c.1019G>A (p.Ser340Asn)
c.1064G>A (p.Ser355Asn)
c.4520G>A (p.Ser1507Asn)
c.844G>A
c.1031G>A (p.Ser344Asn)
c.*4240G>A (n.*4240G>A)
c.770G>A (p.Ser257Asn)
c.773G>A (p.Ser258Asn)
c.5-12564G>A (n.5-12564G>A)
c.-43-1994G>A (n.-43-1994G>A)
c.-98-26325G>A (n.-98-26325G>A)
n.348G>A
n.4593G>A
n.4634G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076515_43076516delinsCTCA2260775463BRCA1c.4453_4454delinsAG (p.Ser1485=)
c.4456_4457delinsAG (p.Ser1486=)
c.4330_4331delinsAG (p.Ser1444=)
c.4450_4451delinsAG (p.Ser1484=)
c.4378_4379delinsAG (p.Ser1460=)
c.1144_1145delinsAG (p.Ser382=)
c.1006_1007delinsAG (p.Ser336=)
c.3568_3569delinsAG (p.Ser1190=)
c.4333_4334delinsAG (p.Ser1445=)
c.4522_4523delinsAG (p.Ser1508=)
c.4315_4316delinsAG (p.Ser1439=)
c.1018_1019delinsAG (p.Ser340=)
c.1063_1064delinsAG (p.Ser355=)
c.4519_4520delinsAG (p.Ser1507=)
c.843_844delinsAG
c.1030_1031delinsAG (p.Ser344=)
c.*4239_*4240delinsAG (n.*4239_*4240delinsAG)
c.769_770delinsAG (p.Ser257=)
c.772_773delinsAG (p.Ser258=)
c.5-12565_5-12564delinsAG (n.5-12565_5-12564delinsAG)
c.-43-1995_-43-1994delinsAG (n.-43-1995_-43-1994delinsAG)
c.-98-26326_-98-26325delinsAG (n.-98-26326_-98-26325delinsAG)
n.347_348delinsAG
n.4592_4593delinsAG
n.4633_4634delinsAG
17g.43076516delCA002859BRCA1c.4453del (p.Ser1485ValfsTer19)
c.4456del (p.Ser1486ValfsTer19)
c.4330del (p.Ser1444ValfsTer19)
c.4450del (p.Ser1484ValfsTer19)
c.4378del (p.Ser1460ValfsTer19)
c.1144del (p.Ser382ValfsTer19)
c.1006del (p.Ser336ValfsTer19)
c.3568del (p.Ser1190ValfsTer19)
c.4333del (p.Ser1445ValfsTer19)
c.4522del (p.Ser1508ValfsTer19)
c.4315del (p.Ser1439ValfsTer19)
c.1018del (p.Ser340ValfsTer19)
c.1063del (p.Ser355ValfsTer19)
c.4519del (p.Ser1507ValfsTer19)
c.843del
c.1030del (p.Ser344ValfsTer19)
c.*4239del (n.*4239del)
c.769del (p.Ser257ValfsTer19)
c.772del (p.Ser258ValfsTer?)
c.5-12565del (n.5-12565del)
c.-43-1995del (n.-43-1995del)
c.-98-26326del (n.-98-26326del)
n.347del
n.4592del
n.4633del
 ClinVar dbSNP
17g.43076516T>ACA002858BRCA1c.4453A>T (p.Ser1485Cys)
c.4456A>T (p.Ser1486Cys)
c.4330A>T (p.Ser1444Cys)
c.4450A>T (p.Ser1484Cys)
c.4378A>T (p.Ser1460Cys)
c.1144A>T (p.Ser382Cys)
c.1006A>T (p.Ser336Cys)
c.3568A>T (p.Ser1190Cys)
c.4333A>T (p.Ser1445Cys)
c.4522A>T (p.Ser1508Cys)
c.4315A>T (p.Ser1439Cys)
c.1018A>T (p.Ser340Cys)
c.1063A>T (p.Ser355Cys)
c.4519A>T (p.Ser1507Cys)
c.843A>T
c.1030A>T (p.Ser344Cys)
c.*4239A>T (n.*4239A>T)
c.769A>T (p.Ser257Cys)
c.772A>T (p.Ser258Cys)
c.5-12565A>T (n.5-12565A>T)
c.-43-1995A>T (n.-43-1995A>T)
c.-98-26326A>T (n.-98-26326A>T)
n.347A>T
n.4592A>T
n.4633A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076516T>CCA10592623BRCA1c.4453A>G (p.Ser1485Gly)
c.4456A>G (p.Ser1486Gly)
c.4330A>G (p.Ser1444Gly)
c.4450A>G (p.Ser1484Gly)
c.4378A>G (p.Ser1460Gly)
c.1144A>G (p.Ser382Gly)
c.1006A>G (p.Ser336Gly)
c.3568A>G (p.Ser1190Gly)
c.4333A>G (p.Ser1445Gly)
c.4522A>G (p.Ser1508Gly)
c.4315A>G (p.Ser1439Gly)
c.1018A>G (p.Ser340Gly)
c.1063A>G (p.Ser355Gly)
c.4519A>G (p.Ser1507Gly)
c.843A>G
c.1030A>G (p.Ser344Gly)
c.*4239A>G (n.*4239A>G)
c.769A>G (p.Ser257Gly)
c.772A>G (p.Ser258Gly)
c.5-12565A>G (n.5-12565A>G)
c.-43-1995A>G (n.-43-1995A>G)
c.-98-26326A>G (n.-98-26326A>G)
n.347A>G
n.4592A>G
n.4633A>G
17g.43076516T>GCA10592624BRCA1c.4453A>C (p.Ser1485Arg)
c.4456A>C (p.Ser1486Arg)
c.4330A>C (p.Ser1444Arg)
c.4450A>C (p.Ser1484Arg)
c.4378A>C (p.Ser1460Arg)
c.1144A>C (p.Ser382Arg)
c.1006A>C (p.Ser336Arg)
c.3568A>C (p.Ser1190Arg)
c.4333A>C (p.Ser1445Arg)
c.4522A>C (p.Ser1508Arg)
c.4315A>C (p.Ser1439Arg)
c.1018A>C (p.Ser340Arg)
c.1063A>C (p.Ser355Arg)
c.4519A>C (p.Ser1507Arg)
c.843A>C
c.1030A>C (p.Ser344Arg)
c.*4239A>C (n.*4239A>C)
c.769A>C (p.Ser257Arg)
c.772A>C (p.Ser258Arg)
c.5-12565A>C (n.5-12565A>C)
c.-43-1995A>C (n.-43-1995A>C)
c.-98-26326A>C (n.-98-26326A>C)
n.347A>C
n.4592A>C
n.4633A>C
17g.43076516T=CA2260775464BRCA1c.4453A= (p.Ser1485=)
c.4456A= (p.Ser1486=)
c.4330A= (p.Ser1444=)
c.4450A= (p.Ser1484=)
c.4378A= (p.Ser1460=)
c.1144A= (p.Ser382=)
c.1006A= (p.Ser336=)
c.3568A= (p.Ser1190=)
c.4333A= (p.Ser1445=)
c.4522A= (p.Ser1508=)
c.4315A= (p.Ser1439=)
c.1018A= (p.Ser340=)
c.1063A= (p.Ser355=)
c.4519A= (p.Ser1507=)
c.843A=
c.1030A= (p.Ser344=)
c.*4239A= (n.*4239A=)
c.769A= (p.Ser257=)
c.772A= (p.Ser258=)
c.5-12565A= (n.5-12565A=)
c.-43-1995A= (n.-43-1995A=)
c.-98-26326A= (n.-98-26326A=)
n.347A=
n.4592A=
n.4633A=
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.43076517G>ACA500146791BRCA1c.4452C>T (p.Thr1484=)
c.4455C>T (p.Thr1485=)
c.4329C>T (p.Thr1443=)
c.4449C>T (p.Thr1483=)
c.4377C>T (p.Thr1459=)
c.1143C>T (p.Thr381=)
c.1005C>T (p.Thr335=)
c.3567C>T (p.Thr1189=)
c.4332C>T (p.Thr1444=)
c.4521C>T (p.Thr1507=)
c.4314C>T (p.Thr1438=)
c.1017C>T (p.Thr339=)
c.1062C>T (p.Thr354=)
c.4518C>T (p.Thr1506=)
c.842C>T
c.1029C>T (p.Thr343=)
c.*4238C>T (n.*4238C>T)
c.768C>T (p.Thr256=)
c.771C>T (p.Thr257=)
c.5-12566C>T (n.5-12566C>T)
c.-43-1996C>T (n.-43-1996C>T)
c.-98-26327C>T (n.-98-26327C>T)
n.346C>T
n.4591C>T
n.4632C>T
 ClinVar dbSNP
17g.43076517G>CCA500146792BRCA1c.4452C>G (p.Thr1484=)
c.4455C>G (p.Thr1485=)
c.4329C>G (p.Thr1443=)
c.4449C>G (p.Thr1483=)
c.4377C>G (p.Thr1459=)
c.1143C>G (p.Thr381=)
c.1005C>G (p.Thr335=)
c.3567C>G (p.Thr1189=)
c.4332C>G (p.Thr1444=)
c.4521C>G (p.Thr1507=)
c.4314C>G (p.Thr1438=)
c.1017C>G (p.Thr339=)
c.1062C>G (p.Thr354=)
c.4518C>G (p.Thr1506=)
c.842C>G
c.1029C>G (p.Thr343=)
c.*4238C>G (n.*4238C>G)
c.768C>G (p.Thr256=)
c.771C>G (p.Thr257=)
c.5-12566C>G (n.5-12566C>G)
c.-43-1996C>G (n.-43-1996C>G)
c.-98-26327C>G (n.-98-26327C>G)
n.346C>G
n.4591C>G
n.4632C>G
 dbSNP
17g.43076517G>TCA500146793BRCA1c.4452C>A (p.Thr1484=)
c.4455C>A (p.Thr1485=)
c.4329C>A (p.Thr1443=)
c.4449C>A (p.Thr1483=)
c.4377C>A (p.Thr1459=)
c.1143C>A (p.Thr381=)
c.1005C>A (p.Thr335=)
c.3567C>A (p.Thr1189=)
c.4332C>A (p.Thr1444=)
c.4521C>A (p.Thr1507=)
c.4314C>A (p.Thr1438=)
c.1017C>A (p.Thr339=)
c.1062C>A (p.Thr354=)
c.4518C>A (p.Thr1506=)
c.842C>A
c.1029C>A (p.Thr343=)
c.*4238C>A (n.*4238C>A)
c.768C>A (p.Thr256=)
c.771C>A (p.Thr257=)
c.5-12566C>A (n.5-12566C>A)
c.-43-1996C>A (n.-43-1996C>A)
c.-98-26327C>A (n.-98-26327C>A)
n.346C>A
n.4591C>A
n.4632C>A
 dbSNP
17g.43076518delCA2733915916BRCA1c.4452del (p.Ser1485ValfsTer19)
c.4455del (p.Ser1486ValfsTer19)
c.4329del (p.Ser1444ValfsTer19)
c.4449del (p.Ser1484ValfsTer19)
c.4377del (p.Ser1460ValfsTer19)
c.1143del (p.Ser382ValfsTer19)
c.1005del (p.Ser336ValfsTer19)
c.3567del (p.Ser1190ValfsTer19)
c.4332del (p.Ser1445ValfsTer19)
c.4521del (p.Ser1508ValfsTer19)
c.4314del (p.Ser1439ValfsTer19)
c.1017del (p.Ser340ValfsTer19)
c.1062del (p.Ser355ValfsTer19)
c.4518del (p.Ser1507ValfsTer19)
c.842del
c.1029del (p.Ser344ValfsTer19)
c.*4238del (n.*4238del)
c.768del (p.Ser257ValfsTer19)
c.771del (p.Ser258ValfsTer?)
c.5-12566del (n.5-12566del)
c.-43-1996del (n.-43-1996del)
c.-98-26327del (n.-98-26327del)
n.346del
n.4591del
n.4632del
 dbSNP
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.43076518G>ACA002857BRCA1c.4451C>T (p.Thr1484Ile)
c.4454C>T (p.Thr1485Ile)
c.4328C>T (p.Thr1443Ile)
c.4448C>T (p.Thr1483Ile)
c.4376C>T (p.Thr1459Ile)
c.1142C>T (p.Thr381Ile)
c.1004C>T (p.Thr335Ile)
c.3566C>T (p.Thr1189Ile)
c.4331C>T (p.Thr1444Ile)
c.4520C>T (p.Thr1507Ile)
c.4313C>T (p.Thr1438Ile)
c.1016C>T (p.Thr339Ile)
c.1061C>T (p.Thr354Ile)
c.4517C>T (p.Thr1506Ile)
c.841C>T
c.1028C>T (p.Thr343Ile)
c.*4237C>T (n.*4237C>T)
c.767C>T (p.Thr256Ile)
c.770C>T (p.Thr257Ile)
c.5-12567C>T (n.5-12567C>T)
c.-43-1997C>T (n.-43-1997C>T)
c.-98-26328C>T (n.-98-26328C>T)
n.345C>T
n.4590C>T
n.4631C>T
 ClinVar dbSNP gnomAD v4
17g.43076518G>CCA10592625BRCA1c.4451C>G (p.Thr1484Ser)
c.4454C>G (p.Thr1485Ser)
c.4328C>G (p.Thr1443Ser)
c.4448C>G (p.Thr1483Ser)
c.4376C>G (p.Thr1459Ser)
c.1142C>G (p.Thr381Ser)
c.1004C>G (p.Thr335Ser)
c.3566C>G (p.Thr1189Ser)
c.4331C>G (p.Thr1444Ser)
c.4520C>G (p.Thr1507Ser)
c.4313C>G (p.Thr1438Ser)
c.1016C>G (p.Thr339Ser)
c.1061C>G (p.Thr354Ser)
c.4517C>G (p.Thr1506Ser)
c.841C>G
c.1028C>G (p.Thr343Ser)
c.*4237C>G (n.*4237C>G)
c.767C>G (p.Thr256Ser)
c.770C>G (p.Thr257Ser)
c.5-12567C>G (n.5-12567C>G)
c.-43-1997C>G (n.-43-1997C>G)
c.-98-26328C>G (n.-98-26328C>G)
n.345C>G
n.4590C>G
n.4631C>G
 ClinVar dbSNP
17g.43076518G=CA2260775466BRCA1c.4451C= (p.Thr1484=)
c.4454C= (p.Thr1485=)
c.4328C= (p.Thr1443=)
c.4448C= (p.Thr1483=)
c.4376C= (p.Thr1459=)
c.1142C= (p.Thr381=)
c.1004C= (p.Thr335=)
c.3566C= (p.Thr1189=)
c.4331C= (p.Thr1444=)
c.4520C= (p.Thr1507=)
c.4313C= (p.Thr1438=)
c.1016C= (p.Thr339=)
c.1061C= (p.Thr354=)
c.4517C= (p.Thr1506=)
c.841C=
c.1028C= (p.Thr343=)
c.*4237C= (n.*4237C=)
c.767C= (p.Thr256=)
c.770C= (p.Thr257=)
c.5-12567C= (n.5-12567C=)
c.-43-1997C= (n.-43-1997C=)
c.-98-26328C= (n.-98-26328C=)
n.345C=
n.4590C=
n.4631C=

Number of alleles fetched