Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43070208_43078359dupCA16043350BRCA1c.4358-1732_4983+736dup
c.4358-1729_4986+736dup
c.4232-1729_4860+736dup
c.4352-1729_4980+736dup
c.4280-1729_4908+736dup
c.1046-1729_1674+736dup
c.908-1729_1536+736dup
c.3470-1729_4098+736dup
c.4235-1729_4863+736dup
c.4423+991_5052+736dup
c.4217-1729_4845+736dup
c.923-1732_1548+736dup
c.4423+991_5049+736dup
c.744+991_1373+736dup
c.932-1729_1560+736dup
c.*4141-1729_*4769+736dup
c.1049-1732_1674+736dup
c.671-1729_1299+736dup
c.5-14392_5-6241dup (n.5-14392_5-6241dup)
c.-43-3822_459+736dup
c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup)
n.4494-1729_5122+736dup
n.4535-1729_5163+736dup
17g.43070192_43078360dupCA2580612611BRCA1c.4358-1749_4983+736dup
c.4358-1746_4986+736dup
c.4232-1746_4860+736dup
c.4352-1746_4980+736dup
c.4280-1746_4908+736dup
c.1046-1746_1674+736dup
c.908-1746_1536+736dup
c.3470-1746_4098+736dup
c.4235-1746_4863+736dup
c.4423+974_5052+736dup
c.4217-1746_4845+736dup
c.923-1749_1548+736dup
c.4423+974_5049+736dup
c.744+974_1373+736dup
c.932-1746_1560+736dup
c.*4141-1746_*4769+736dup
c.1049-1749_1674+736dup
c.671-1746_1299+736dup
c.5-14409_5-6241dup (n.5-14409_5-6241dup)
c.-43-3839_459+736dup
c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup)
n.4494-1746_5122+736dup
n.4535-1746_5163+736dup
17g.43074333_43082577delCA2581463402BRCA1c.4186_4672del
c.4186_4675del
c.4060_4549del
c.4183-3_4669del
c.4108_4597del
c.874_1363del
c.736_1225del
c.3298_3787del
c.4063_4552del
c.4186_4741del
c.4045_4534del
c.754-3_1237del
c.796_1282del
c.4186_4738del
c.507_1062del
c.760_1249del
c.*3969_*4458del
c.877_1363del
c.499_988del
c.5-18624_5-10380del (n.5-18624_5-10380del)
c.-43-8054_148del
c.-98-32385_-98-24141del (n.-98-32385_-98-24141del)
n.4322_4811del
n.4363_4852del
17g.43075650_43084252dupCA2580612642BRCA1c.4186-1676_4481+839dup
c.4186-1676_4484+839dup
c.4060-1676_4358+839dup
c.4183-1679_4478+839dup
c.4108-1676_4406+839dup
c.874-1676_1172+839dup
c.736-1676_1034+839dup
c.3298-1676_3596+839dup
c.4063-1676_4361+839dup
c.4186-1676_4550+839dup
c.4045-1676_4343+839dup
c.754-1679_1046+839dup
c.796-1676_1091+839dup
c.4186-1676_4547+839dup
c.507-1676_871+839dup
c.760-1676_1058+839dup
c.*3969-1676_*4267+839dup
c.877-1676_1172+839dup
c.499-1676_797+839dup
c.5-20300_5-11698dup (n.5-20300_5-11698dup)
c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup)
c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup)
n.4322-1676_4620+839dup
n.4363-1676_4661+839dup
17g.43075943_43080892delCA16609626BRCA1c.4357+1514_4481+547del
c.4357+1514_4484+547del
c.4231+1514_4358+547del
c.4351+1514_4478+547del
c.4279+1514_4406+547del
c.1045+1514_1172+547del
c.907+1514_1034+547del
c.3469+1514_3596+547del
c.4234+1514_4361+547del
c.4358-1491_4550+547del
c.4216+1514_4343+547del
c.922+1514_1046+547del
c.967+1514_1091+547del
c.4358-1491_4547+547del
c.679-1491_871+547del
c.931+1514_1058+547del
c.*4140+1514_*4267+547del
c.1048+1514_1172+547del
c.670+1514_797+547del
c.5-16939_5-11990del (n.5-16939_5-11990del)
c.-43-6369_-43-1420del (n.-43-6369_-43-1420del)
c.-98-30700_-98-25751del (n.-98-30700_-98-25751del)
n.4493+1514_4620+547del
n.4534+1514_4661+547del
 ClinVar
17g.43076486_43076615delCA2499224413BRCA1c.4358-4_4481+2del
c.4358-1_4484+2del
c.4232-1_4358+2del
c.4352-1_4478+2del
c.4280-1_4406+2del
c.1046-1_1172+2del
c.908-1_1034+2del
c.3470-1_3596+2del
c.4235-1_4361+2del
c.4424-1_4550+2del
c.4217-1_4343+2del
c.923-4_1046+2del
c.968-4_1091+2del
c.4424-4_4547+2del
c.745-1_871+2del
c.932-1_1058+2del
c.*4141-1_*4267+2del
c.1049-4_1172+2del
c.671-1_797+2del
c.5-12664_5-12535del (n.5-12664_5-12535del)
c.-43-2094_-43-1965del (n.-43-2094_-43-1965del)
c.-98-26425_-98-26296del (n.-98-26425_-98-26296del)
n.4494-1_4620+2del
n.4535-1_4661+2del
 ClinVar dbSNP
17g.43076492_43076618dupCA658653640BRCA1c.4358-3_4481dup
c.4358_4484dup
c.4232_4358dup
c.4352_4478dup
c.4280_4406dup
c.1046_1172dup
c.908_1034dup
c.3470_3596dup
c.4235_4361dup
c.4424_4550dup
c.4217_4343dup
c.923-3_1046dup
c.968-3_1091dup
c.4424-3_4547dup
c.745_871dup
c.932_1058dup
c.*4141_*4267dup
c.1049-3_1172dup
c.671_797dup
c.5-12663_5-12537dup (n.5-12663_5-12537dup)
c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup)
c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup)
n.4494_4620dup
n.4535_4661dup
17g.43076492_43076618delCA002799BRCA1c.4358-3_4481del
c.4358_4484del
c.4232_4358del
c.4352_4478del
c.4280_4406del
c.1046_1172del
c.908_1034del
c.3470_3596del
c.4235_4361del
c.4424_4550del
c.4217_4343del
c.923-3_1046del
c.968-3_1091del
c.4424-3_4547del
c.745_871del
c.932_1058del
c.*4141_*4267del
c.1049-3_1172del
c.671_797del
c.674_800del
c.5-12663_5-12537del (n.5-12663_5-12537del)
c.-43-2093_-43-1967del (n.-43-2093_-43-1967del)
c.-98-26424_-98-26298del (n.-98-26424_-98-26298del)
n.252-3_375del
n.4494_4620del
n.4535_4661del
 ClinVar
17g.43076551_43079399delCA10590062BRCA1c.4358-2788_4418del
c.4358-2785_4421del
c.4232-2785_4295del
c.4352-2785_4415del
c.4280-2785_4343del
c.1046-2785_1109del
c.908-2785_971del
c.3470-2785_3533del
c.4235-2785_4298del
c.4358_4487del
c.4217-2785_4280del
c.923-2788_983del
c.968-2788_1028del
c.4358_4484del
c.679_808del
c.932-2785_995del
c.*4141-2785_*4204del
c.652-2788_712del
c.1049-2788_1109del
c.671-2785_734del
c.674-2785_737del
c.5-15448_5-12600del (n.5-15448_5-12600del)
c.-43-4878_-43-2030del (n.-43-4878_-43-2030del)
c.-98-29209_-98-26361del (n.-98-29209_-98-26361del)
n.252-2788_312del
n.4494-2785_4557del
n.4535-2785_4598del
17g.43076568_43076581delinsATTCTGGCTTATAGCA2260775512BRCA1c.4388_4401delinsCTATAAGCCAGAAT (p.Pro1463=)
c.4391_4404delinsCTATAAGCCAGAAT (p.Pro1464=)
c.4265_4278delinsCTATAAGCCAGAAT (p.Pro1422=)
c.4385_4398delinsCTATAAGCCAGAAT (p.Pro1462=)
c.4313_4326delinsCTATAAGCCAGAAT (p.Pro1438=)
c.1079_1092delinsCTATAAGCCAGAAT (p.Pro360=)
c.941_954delinsCTATAAGCCAGAAT (p.Pro314=)
c.3503_3516delinsCTATAAGCCAGAAT (p.Pro1168=)
c.4268_4281delinsCTATAAGCCAGAAT (p.Pro1423=)
c.4457_4470delinsCTATAAGCCAGAAT (p.Pro1486=)
c.4250_4263delinsCTATAAGCCAGAAT (p.Pro1417=)
c.953_966delinsCTATAAGCCAGAAT (p.Pro318=)
c.998_1011delinsCTATAAGCCAGAAT (p.Pro333=)
c.4454_4467delinsCTATAAGCCAGAAT (p.Pro1485=)
c.778_791delinsCTATAAGCCAGAAT
c.965_978delinsCTATAAGCCAGAAT (p.Pro322=)
c.*4174_*4187delinsCTATAAGCCAGAAT (n.*4174_*4187delinsCTATAAGCCAGAAT)
c.682_695delinsCTATAAGCCAGAAT
c.704_717delinsCTATAAGCCAGAAT (p.Pro235=)
c.707_720delinsCTATAAGCCAGAAT (p.Pro236=)
c.5-12630_5-12617delinsCTATAAGCCAGAAT (n.5-12630_5-12617delinsCTATAAGCCAGAAT)
c.-43-2060_-43-2047delinsCTATAAGCCAGAAT (n.-43-2060_-43-2047delinsCTATAAGCCAGAAT)
c.-98-26391_-98-26378delinsCTATAAGCCAGAAT (n.-98-26391_-98-26378delinsCTATAAGCCAGAAT)
n.282_295delinsCTATAAGCCAGAAT
n.4527_4540delinsCTATAAGCCAGAAT
n.4568_4581delinsCTATAAGCCAGAAT
17g.43076569_43076581delinsAACA002817BRCA1c.4388_4400delinsTT (p.Pro1463LeufsTer8)
c.4391_4403delinsTT (p.Pro1464LeufsTer8)
c.4265_4277delinsTT (p.Pro1422LeufsTer8)
c.4385_4397delinsTT (p.Pro1462LeufsTer8)
c.4313_4325delinsTT (p.Pro1438LeufsTer8)
c.1079_1091delinsTT (p.Pro360LeufsTer8)
c.941_953delinsTT (p.Pro314LeufsTer8)
c.3503_3515delinsTT (p.Pro1168LeufsTer8)
c.4268_4280delinsTT (p.Pro1423LeufsTer8)
c.4457_4469delinsTT (p.Pro1486LeufsTer8)
c.4250_4262delinsTT (p.Pro1417LeufsTer8)
c.953_965delinsTT (p.Pro318LeufsTer8)
c.998_1010delinsTT (p.Pro333LeufsTer8)
c.4454_4466delinsTT (p.Pro1485LeufsTer8)
c.778_790delinsTT
c.965_977delinsTT (p.Pro322LeufsTer8)
c.*4174_*4186delinsTT (n.*4174_*4186delinsTT)
c.682_694delinsTT
c.704_716delinsTT (p.Pro235LeufsTer8)
c.707_719delinsTT (p.Pro236LeufsTer8)
c.5-12630_5-12618delinsTT (n.5-12630_5-12618delinsTT)
c.-43-2060_-43-2048delinsTT (n.-43-2060_-43-2048delinsTT)
c.-98-26391_-98-26379delinsTT (n.-98-26391_-98-26379delinsTT)
n.282_294delinsTT
n.4527_4539delinsTT
n.4568_4580delinsTT
 ClinVar dbSNP
17g.43076578_43076579delinsATCA2260775522BRCA1c.4390_4391delinsAT (p.Ile1464=)
c.4393_4394delinsAT (p.Ile1465=)
c.4267_4268delinsAT (p.Ile1423=)
c.4387_4388delinsAT (p.Ile1463=)
c.4315_4316delinsAT (p.Ile1439=)
c.1081_1082delinsAT (p.Ile361=)
c.943_944delinsAT (p.Ile315=)
c.3505_3506delinsAT (p.Ile1169=)
c.4270_4271delinsAT (p.Ile1424=)
c.4459_4460delinsAT (p.Ile1487=)
c.4252_4253delinsAT (p.Ile1418=)
c.955_956delinsAT (p.Ile319=)
c.1000_1001delinsAT (p.Ile334=)
c.4456_4457delinsAT (p.Ile1486=)
c.780_781delinsAT
c.967_968delinsAT (p.Ile323=)
c.*4176_*4177delinsAT (n.*4176_*4177delinsAT)
c.684_685delinsAT
c.706_707delinsAT (p.Ile236=)
c.709_710delinsAT (p.Ile237=)
c.5-12628_5-12627delinsAT (n.5-12628_5-12627delinsAT)
c.-43-2058_-43-2057delinsAT (n.-43-2058_-43-2057delinsAT)
c.-98-26389_-98-26388delinsAT (n.-98-26389_-98-26388delinsAT)
n.284_285delinsAT
n.4529_4530delinsAT
n.4570_4571delinsAT
17g.43076578_43076581delinsATAGCA2260775521BRCA1c.4388_4391delinsCTAT (p.Pro1463=)
c.4391_4394delinsCTAT (p.Pro1464=)
c.4265_4268delinsCTAT (p.Pro1422=)
c.4385_4388delinsCTAT (p.Pro1462=)
c.4313_4316delinsCTAT (p.Pro1438=)
c.1079_1082delinsCTAT (p.Pro360=)
c.941_944delinsCTAT (p.Pro314=)
c.3503_3506delinsCTAT (p.Pro1168=)
c.4268_4271delinsCTAT (p.Pro1423=)
c.4457_4460delinsCTAT (p.Pro1486=)
c.4250_4253delinsCTAT (p.Pro1417=)
c.953_956delinsCTAT (p.Pro318=)
c.998_1001delinsCTAT (p.Pro333=)
c.4454_4457delinsCTAT (p.Pro1485=)
c.778_781delinsCTAT
c.965_968delinsCTAT (p.Pro322=)
c.*4174_*4177delinsCTAT (n.*4174_*4177delinsCTAT)
c.682_685delinsCTAT
c.704_707delinsCTAT (p.Pro235=)
c.707_710delinsCTAT (p.Pro236=)
c.5-12630_5-12627delinsCTAT (n.5-12630_5-12627delinsCTAT)
c.-43-2060_-43-2057delinsCTAT (n.-43-2060_-43-2057delinsCTAT)
c.-98-26391_-98-26388delinsCTAT (n.-98-26391_-98-26388delinsCTAT)
n.282_285delinsCTAT
n.4527_4530delinsCTAT
n.4568_4571delinsCTAT
17g.43076579delCA002820BRCA1c.4390del (p.Ile1464Ter)
c.4393del (p.Ile1465Ter)
c.4267del (p.Ile1423Ter)
c.4387del (p.Ile1463Ter)
c.4315del (p.Ile1439Ter)
c.1081del (p.Ile361Ter)
c.943del (p.Ile315Ter)
c.3505del (p.Ile1169Ter)
c.4270del (p.Ile1424Ter)
c.4459del (p.Ile1487Ter)
c.4252del (p.Ile1418Ter)
c.955del (p.Ile319Ter)
c.1000del (p.Ile334Ter)
c.4456del (p.Ile1486Ter)
c.780del
c.967del (p.Ile323Ter)
c.*4176del (n.*4176del)
c.684del
c.706del (p.Ile236Ter)
c.709del (p.Ile237Ter)
c.5-12628del (n.5-12628del)
c.-43-2058del (n.-43-2058del)
c.-98-26389del (n.-98-26389del)
n.284del
n.4529del
n.4570del
 ClinVar dbSNP
17g.43076579T>ACA10592750BRCA1c.4390A>T (p.Ile1464Leu)
c.4393A>T (p.Ile1465Leu)
c.4267A>T (p.Ile1423Leu)
c.4387A>T (p.Ile1463Leu)
c.4315A>T (p.Ile1439Leu)
c.1081A>T (p.Ile361Leu)
c.943A>T (p.Ile315Leu)
c.3505A>T (p.Ile1169Leu)
c.4270A>T (p.Ile1424Leu)
c.4459A>T (p.Ile1487Leu)
c.4252A>T (p.Ile1418Leu)
c.955A>T (p.Ile319Leu)
c.1000A>T (p.Ile334Leu)
c.4456A>T (p.Ile1486Leu)
c.780A>T
c.967A>T (p.Ile323Leu)
c.*4176A>T (n.*4176A>T)
c.684A>T
c.706A>T (p.Ile236Leu)
c.709A>T (p.Ile237Leu)
c.5-12628A>T (n.5-12628A>T)
c.-43-2058A>T (n.-43-2058A>T)
c.-98-26389A>T (n.-98-26389A>T)
n.284A>T
n.4529A>T
n.4570A>T
 dbSNP
17g.43076579T>CCA10592751BRCA1c.4390A>G (p.Ile1464Val)
c.4393A>G (p.Ile1465Val)
c.4267A>G (p.Ile1423Val)
c.4387A>G (p.Ile1463Val)
c.4315A>G (p.Ile1439Val)
c.1081A>G (p.Ile361Val)
c.943A>G (p.Ile315Val)
c.3505A>G (p.Ile1169Val)
c.4270A>G (p.Ile1424Val)
c.4459A>G (p.Ile1487Val)
c.4252A>G (p.Ile1418Val)
c.955A>G (p.Ile319Val)
c.1000A>G (p.Ile334Val)
c.4456A>G (p.Ile1486Val)
c.780A>G
c.967A>G (p.Ile323Val)
c.*4176A>G (n.*4176A>G)
c.684A>G
c.706A>G (p.Ile236Val)
c.709A>G (p.Ile237Val)
c.5-12628A>G (n.5-12628A>G)
c.-43-2058A>G (n.-43-2058A>G)
c.-98-26389A>G (n.-98-26389A>G)
n.284A>G
n.4529A>G
n.4570A>G
 ClinVar dbSNP gnomAD v4
17g.43076579T>GCA10592752BRCA1c.4390A>C (p.Ile1464Leu)
c.4393A>C (p.Ile1465Leu)
c.4267A>C (p.Ile1423Leu)
c.4387A>C (p.Ile1463Leu)
c.4315A>C (p.Ile1439Leu)
c.1081A>C (p.Ile361Leu)
c.943A>C (p.Ile315Leu)
c.3505A>C (p.Ile1169Leu)
c.4270A>C (p.Ile1424Leu)
c.4459A>C (p.Ile1487Leu)
c.4252A>C (p.Ile1418Leu)
c.955A>C (p.Ile319Leu)
c.1000A>C (p.Ile334Leu)
c.4456A>C (p.Ile1486Leu)
c.780A>C
c.967A>C (p.Ile323Leu)
c.*4176A>C (n.*4176A>C)
c.684A>C
c.706A>C (p.Ile236Leu)
c.709A>C (p.Ile237Leu)
c.5-12628A>C (n.5-12628A>C)
c.-43-2058A>C (n.-43-2058A>C)
c.-98-26389A>C (n.-98-26389A>C)
n.284A>C
n.4529A>C
n.4570A>C
 ClinVar dbSNP
17g.43076579T=CA2260775523BRCA1c.4390A= (p.Ile1464=)
c.4393A= (p.Ile1465=)
c.4267A= (p.Ile1423=)
c.4387A= (p.Ile1463=)
c.4315A= (p.Ile1439=)
c.1081A= (p.Ile361=)
c.943A= (p.Ile315=)
c.3505A= (p.Ile1169=)
c.4270A= (p.Ile1424=)
c.4459A= (p.Ile1487=)
c.4252A= (p.Ile1418=)
c.955A= (p.Ile319=)
c.1000A= (p.Ile334=)
c.4456A= (p.Ile1486=)
c.780A=
c.967A= (p.Ile323=)
c.*4176A= (n.*4176A=)
c.684A=
c.706A= (p.Ile236=)
c.709A= (p.Ile237=)
c.5-12628A= (n.5-12628A=)
c.-43-2058A= (n.-43-2058A=)
c.-98-26389A= (n.-98-26389A=)
n.284A=
n.4529A=
n.4570A=
17g.43076579_43076580delinsTACA2260775524BRCA1c.4389_4390delinsTA (p.Pro1463=)
c.4392_4393delinsTA (p.Pro1464=)
c.4266_4267delinsTA (p.Pro1422=)
c.4386_4387delinsTA (p.Pro1462=)
c.4314_4315delinsTA (p.Pro1438=)
c.1080_1081delinsTA (p.Pro360=)
c.942_943delinsTA (p.Pro314=)
c.3504_3505delinsTA (p.Pro1168=)
c.4269_4270delinsTA (p.Pro1423=)
c.4458_4459delinsTA (p.Pro1486=)
c.4251_4252delinsTA (p.Pro1417=)
c.954_955delinsTA (p.Pro318=)
c.999_1000delinsTA (p.Pro333=)
c.4455_4456delinsTA (p.Pro1485=)
c.779_780delinsTA
c.966_967delinsTA (p.Pro322=)
c.*4175_*4176delinsTA (n.*4175_*4176delinsTA)
c.683_684delinsTA
c.705_706delinsTA (p.Pro235=)
c.708_709delinsTA (p.Pro236=)
c.5-12629_5-12628delinsTA (n.5-12629_5-12628delinsTA)
c.-43-2059_-43-2058delinsTA (n.-43-2059_-43-2058delinsTA)
c.-98-26390_-98-26389delinsTA (n.-98-26390_-98-26389delinsTA)
n.283_284delinsTA
n.4528_4529delinsTA
n.4569_4570delinsTA
17g.43076579_43076581delinsAACA002815BRCA1c.4388_4390delinsTT (p.Pro1463LeufsTer2)
c.4391_4393delinsTT (p.Pro1464LeufsTer2)
c.4265_4267delinsTT (p.Pro1422LeufsTer2)
c.4385_4387delinsTT (p.Pro1462LeufsTer2)
c.4313_4315delinsTT (p.Pro1438LeufsTer2)
c.1079_1081delinsTT (p.Pro360LeufsTer2)
c.941_943delinsTT (p.Pro314LeufsTer2)
c.3503_3505delinsTT (p.Pro1168LeufsTer2)
c.4268_4270delinsTT (p.Pro1423LeufsTer2)
c.4457_4459delinsTT (p.Pro1486LeufsTer2)
c.4250_4252delinsTT (p.Pro1417LeufsTer2)
c.953_955delinsTT (p.Pro318LeufsTer2)
c.998_1000delinsTT (p.Pro333LeufsTer2)
c.4454_4456delinsTT (p.Pro1485LeufsTer2)
c.778_780delinsTT
c.965_967delinsTT (p.Pro322LeufsTer2)
c.*4174_*4176delinsTT (n.*4174_*4176delinsTT)
c.682_684delinsTT
c.704_706delinsTT (p.Pro235LeufsTer2)
c.707_709delinsTT (p.Pro236LeufsTer2)
c.5-12630_5-12628delinsTT (n.5-12630_5-12628delinsTT)
c.-43-2060_-43-2058delinsTT (n.-43-2060_-43-2058delinsTT)
c.-98-26391_-98-26389delinsTT (n.-98-26391_-98-26389delinsTT)
n.282_284delinsTT
n.4527_4529delinsTT
n.4568_4570delinsTT
 ClinVar dbSNP
17g.43076580delCA16620425BRCA1c.4389del (p.Ile1464Ter)
c.4392del (p.Ile1465Ter)
c.4266del (p.Ile1423Ter)
c.4386del (p.Ile1463Ter)
c.4314del (p.Ile1439Ter)
c.1080del (p.Ile361Ter)
c.942del (p.Ile315Ter)
c.3504del (p.Ile1169Ter)
c.4269del (p.Ile1424Ter)
c.4458del (p.Ile1487Ter)
c.4251del (p.Ile1418Ter)
c.954del (p.Ile319Ter)
c.999del (p.Ile334Ter)
c.4455del (p.Ile1486Ter)
c.779del
c.966del (p.Ile323Ter)
c.*4175del (n.*4175del)
c.683del
c.705del (p.Ile236Ter)
c.708del (p.Ile237Ter)
c.5-12629del (n.5-12629del)
c.-43-2059del (n.-43-2059del)
c.-98-26390del (n.-98-26390del)
n.283del
n.4528del
n.4569del
 ClinVar dbSNP
17g.43076580A=CA2260775525BRCA1c.4389T= (p.Pro1463=)
c.4392T= (p.Pro1464=)
c.4266T= (p.Pro1422=)
c.4386T= (p.Pro1462=)
c.4314T= (p.Pro1438=)
c.1080T= (p.Pro360=)
c.942T= (p.Pro314=)
c.3504T= (p.Pro1168=)
c.4269T= (p.Pro1423=)
c.4458T= (p.Pro1486=)
c.4251T= (p.Pro1417=)
c.954T= (p.Pro318=)
c.999T= (p.Pro333=)
c.4455T= (p.Pro1485=)
c.779T=
c.966T= (p.Pro322=)
c.*4175T= (n.*4175T=)
c.683T=
c.705T= (p.Pro235=)
c.708T= (p.Pro236=)
c.5-12629T= (n.5-12629T=)
c.-43-2059T= (n.-43-2059T=)
c.-98-26390T= (n.-98-26390T=)
n.283T=
n.4528T=
n.4569T=
17g.43076580A>CCA500146847BRCA1c.4389T>G (p.Pro1463=)
c.4392T>G (p.Pro1464=)
c.4266T>G (p.Pro1422=)
c.4386T>G (p.Pro1462=)
c.4314T>G (p.Pro1438=)
c.1080T>G (p.Pro360=)
c.942T>G (p.Pro314=)
c.3504T>G (p.Pro1168=)
c.4269T>G (p.Pro1423=)
c.4458T>G (p.Pro1486=)
c.4251T>G (p.Pro1417=)
c.954T>G (p.Pro318=)
c.999T>G (p.Pro333=)
c.4455T>G (p.Pro1485=)
c.779T>G
c.966T>G (p.Pro322=)
c.*4175T>G (n.*4175T>G)
c.683T>G
c.705T>G (p.Pro235=)
c.708T>G (p.Pro236=)
c.5-12629T>G (n.5-12629T>G)
c.-43-2059T>G (n.-43-2059T>G)
c.-98-26390T>G (n.-98-26390T>G)
n.283T>G
n.4528T>G
n.4569T>G
 ClinVar
17g.43076580A>GCA500146848BRCA1c.4389T>C (p.Pro1463=)
c.4392T>C (p.Pro1464=)
c.4266T>C (p.Pro1422=)
c.4386T>C (p.Pro1462=)
c.4314T>C (p.Pro1438=)
c.1080T>C (p.Pro360=)
c.942T>C (p.Pro314=)
c.3504T>C (p.Pro1168=)
c.4269T>C (p.Pro1423=)
c.4458T>C (p.Pro1486=)
c.4251T>C (p.Pro1417=)
c.954T>C (p.Pro318=)
c.999T>C (p.Pro333=)
c.4455T>C (p.Pro1485=)
c.779T>C
c.966T>C (p.Pro322=)
c.*4175T>C (n.*4175T>C)
c.683T>C
c.705T>C (p.Pro235=)
c.708T>C (p.Pro236=)
c.5-12629T>C (n.5-12629T>C)
c.-43-2059T>C (n.-43-2059T>C)
c.-98-26390T>C (n.-98-26390T>C)
n.283T>C
n.4528T>C
n.4569T>C
 dbSNP
17g.43076580A>TCA002819BRCA1c.4389T>A (p.Pro1463=)
c.4392T>A (p.Pro1464=)
c.4266T>A (p.Pro1422=)
c.4386T>A (p.Pro1462=)
c.4314T>A (p.Pro1438=)
c.1080T>A (p.Pro360=)
c.942T>A (p.Pro314=)
c.3504T>A (p.Pro1168=)
c.4269T>A (p.Pro1423=)
c.4458T>A (p.Pro1486=)
c.4251T>A (p.Pro1417=)
c.954T>A (p.Pro318=)
c.999T>A (p.Pro333=)
c.4455T>A (p.Pro1485=)
c.779T>A
c.966T>A (p.Pro322=)
c.*4175T>A (n.*4175T>A)
c.683T>A
c.705T>A (p.Pro235=)
c.708T>A (p.Pro236=)
c.5-12629T>A (n.5-12629T>A)
c.-43-2059T>A (n.-43-2059T>A)
c.-98-26390T>A (n.-98-26390T>A)
n.283T>A
n.4528T>A
n.4569T>A
 ClinVar dbSNP gnomAD v4
17g.43076580_43076581delinsAGCA2260775526BRCA1c.4388_4389delinsCT (p.Pro1463=)
c.4391_4392delinsCT (p.Pro1464=)
c.4265_4266delinsCT (p.Pro1422=)
c.4385_4386delinsCT (p.Pro1462=)
c.4313_4314delinsCT (p.Pro1438=)
c.1079_1080delinsCT (p.Pro360=)
c.941_942delinsCT (p.Pro314=)
c.3503_3504delinsCT (p.Pro1168=)
c.4268_4269delinsCT (p.Pro1423=)
c.4457_4458delinsCT (p.Pro1486=)
c.4250_4251delinsCT (p.Pro1417=)
c.953_954delinsCT (p.Pro318=)
c.998_999delinsCT (p.Pro333=)
c.4454_4455delinsCT (p.Pro1485=)
c.778_779delinsCT
c.965_966delinsCT (p.Pro322=)
c.*4174_*4175delinsCT (n.*4174_*4175delinsCT)
c.682_683delinsCT
c.704_705delinsCT (p.Pro235=)
c.707_708delinsCT (p.Pro236=)
c.5-12630_5-12629delinsCT (n.5-12630_5-12629delinsCT)
c.-43-2060_-43-2059delinsCT (n.-43-2060_-43-2059delinsCT)
c.-98-26391_-98-26390delinsCT (n.-98-26391_-98-26390delinsCT)
n.282_283delinsCT
n.4527_4528delinsCT
n.4568_4569delinsCT
17g.43076580_43076583dupCA10585914BRCA1c.4386_4389dup (p.Ile1464ProfsTer12)
c.4389_4392dup (p.Ile1465ProfsTer12)
c.4263_4266dup (p.Ile1423ProfsTer12)
c.4383_4386dup (p.Ile1463ProfsTer12)
c.4311_4314dup (p.Ile1439ProfsTer12)
c.1077_1080dup (p.Ile361ProfsTer12)
c.939_942dup (p.Ile315ProfsTer12)
c.3501_3504dup (p.Ile1169ProfsTer12)
c.4266_4269dup (p.Ile1424ProfsTer12)
c.4455_4458dup (p.Ile1487ProfsTer12)
c.4248_4251dup (p.Ile1418ProfsTer12)
c.951_954dup (p.Ile319ProfsTer12)
c.996_999dup (p.Ile334ProfsTer12)
c.4452_4455dup (p.Ile1486ProfsTer12)
c.776_779dup
c.963_966dup (p.Ile323ProfsTer12)
c.*4172_*4175dup (n.*4172_*4175dup)
c.680_683dup
c.702_705dup (p.Ile236ProfsTer12)
c.705_708dup (p.Ile237ProfsTer12)
c.5-12632_5-12629dup (n.5-12632_5-12629dup)
c.-43-2062_-43-2059dup (n.-43-2062_-43-2059dup)
c.-98-26393_-98-26390dup (n.-98-26393_-98-26390dup)
n.280_283dup
n.4525_4528dup
n.4566_4569dup
 ClinVar dbSNP
17g.43076580_43076593delinsTGGGTATTCACTATCA2695225926BRCA1c.4376_4389delinsATAGTGAATACCCA (p.Ser1459Asn)
c.4379_4392delinsATAGTGAATACCCA (p.Ser1460Asn)
c.4253_4266delinsATAGTGAATACCCA (p.Ser1418Asn)
c.4373_4386delinsATAGTGAATACCCA (p.Ser1458Asn)
c.4301_4314delinsATAGTGAATACCCA (p.Ser1434Asn)
c.1067_1080delinsATAGTGAATACCCA (p.Ser356Asn)
c.929_942delinsATAGTGAATACCCA (p.Ser310Asn)
c.3491_3504delinsATAGTGAATACCCA (p.Ser1164Asn)
c.4256_4269delinsATAGTGAATACCCA (p.Ser1419Asn)
c.4445_4458delinsATAGTGAATACCCA (p.Ser1482Asn)
c.4238_4251delinsATAGTGAATACCCA (p.Ser1413Asn)
c.941_954delinsATAGTGAATACCCA (p.Ser314Asn)
c.986_999delinsATAGTGAATACCCA (p.Ser329Asn)
c.4442_4455delinsATAGTGAATACCCA (p.Ser1481Asn)
c.766_779delinsATAGTGAATACCCA
c.953_966delinsATAGTGAATACCCA (p.Ser318Asn)
c.*4162_*4175delinsATAGTGAATACCCA (n.*4162_*4175delinsATAGTGAATACCCA)
c.670_683delinsATAGTGAATACCCA
c.692_705delinsATAGTGAATACCCA (p.Ser231Asn)
c.695_708delinsATAGTGAATACCCA (p.Ser232Asn)
c.5-12642_5-12629delinsATAGTGAATACCCA (n.5-12642_5-12629delinsATAGTGAATACCCA)
c.-43-2072_-43-2059delinsATAGTGAATACCCA (n.-43-2072_-43-2059delinsATAGTGAATACCCA)
c.-98-26403_-98-26390delinsATAGTGAATACCCA (n.-98-26403_-98-26390delinsATAGTGAATACCCA)
n.270_283delinsATAGTGAATACCCA
n.4515_4528delinsATAGTGAATACCCA
n.4556_4569delinsATAGTGAATACCCA
17g.43076581G>ACA10592753BRCA1c.4388C>T (p.Pro1463Leu)
c.4391C>T (p.Pro1464Leu)
c.4265C>T (p.Pro1422Leu)
c.4385C>T (p.Pro1462Leu)
c.4313C>T (p.Pro1438Leu)
c.1079C>T (p.Pro360Leu)
c.941C>T (p.Pro314Leu)
c.3503C>T (p.Pro1168Leu)
c.4268C>T (p.Pro1423Leu)
c.4457C>T (p.Pro1486Leu)
c.4250C>T (p.Pro1417Leu)
c.953C>T (p.Pro318Leu)
c.998C>T (p.Pro333Leu)
c.4454C>T (p.Pro1485Leu)
c.778C>T
c.965C>T (p.Pro322Leu)
c.*4174C>T (n.*4174C>T)
c.682C>T
c.704C>T (p.Pro235Leu)
c.707C>T (p.Pro236Leu)
c.5-12630C>T (n.5-12630C>T)
c.-43-2060C>T (n.-43-2060C>T)
c.-98-26391C>T (n.-98-26391C>T)
n.282C>T
n.4527C>T
n.4568C>T
 ClinVar dbSNP gnomAD v4
17g.43076581G>CCA10592754BRCA1c.4388C>G (p.Pro1463Arg)
c.4391C>G (p.Pro1464Arg)
c.4265C>G (p.Pro1422Arg)
c.4385C>G (p.Pro1462Arg)
c.4313C>G (p.Pro1438Arg)
c.1079C>G (p.Pro360Arg)
c.941C>G (p.Pro314Arg)
c.3503C>G (p.Pro1168Arg)
c.4268C>G (p.Pro1423Arg)
c.4457C>G (p.Pro1486Arg)
c.4250C>G (p.Pro1417Arg)
c.953C>G (p.Pro318Arg)
c.998C>G (p.Pro333Arg)
c.4454C>G (p.Pro1485Arg)
c.778C>G
c.965C>G (p.Pro322Arg)
c.*4174C>G (n.*4174C>G)
c.682C>G
c.704C>G (p.Pro235Arg)
c.707C>G (p.Pro236Arg)
c.5-12630C>G (n.5-12630C>G)
c.-43-2060C>G (n.-43-2060C>G)
c.-98-26391C>G (n.-98-26391C>G)
n.282C>G
n.4527C>G
n.4568C>G
 ClinVar dbSNP
17g.43076581G=CA2260775527BRCA1c.4388C= (p.Pro1463=)
c.4391C= (p.Pro1464=)
c.4265C= (p.Pro1422=)
c.4385C= (p.Pro1462=)
c.4313C= (p.Pro1438=)
c.1079C= (p.Pro360=)
c.941C= (p.Pro314=)
c.3503C= (p.Pro1168=)
c.4268C= (p.Pro1423=)
c.4457C= (p.Pro1486=)
c.4250C= (p.Pro1417=)
c.953C= (p.Pro318=)
c.998C= (p.Pro333=)
c.4454C= (p.Pro1485=)
c.778C=
c.965C= (p.Pro322=)
c.*4174C= (n.*4174C=)
c.682C=
c.704C= (p.Pro235=)
c.707C= (p.Pro236=)
c.5-12630C= (n.5-12630C=)
c.-43-2060C= (n.-43-2060C=)
c.-98-26391C= (n.-98-26391C=)
n.282C=
n.4527C=
n.4568C=
17g.43076581G>TCA10592755BRCA1c.4388C>A (p.Pro1463His)
c.4391C>A (p.Pro1464His)
c.4265C>A (p.Pro1422His)
c.4385C>A (p.Pro1462His)
c.4313C>A (p.Pro1438His)
c.1079C>A (p.Pro360His)
c.941C>A (p.Pro314His)
c.3503C>A (p.Pro1168His)
c.4268C>A (p.Pro1423His)
c.4457C>A (p.Pro1486His)
c.4250C>A (p.Pro1417His)
c.953C>A (p.Pro318His)
c.998C>A (p.Pro333His)
c.4454C>A (p.Pro1485His)
c.778C>A
c.965C>A (p.Pro322His)
c.*4174C>A (n.*4174C>A)
c.682C>A
c.704C>A (p.Pro235His)
c.707C>A (p.Pro236His)
c.5-12630C>A (n.5-12630C>A)
c.-43-2060C>A (n.-43-2060C>A)
c.-98-26391C>A (n.-98-26391C>A)
n.282C>A
n.4527C>A
n.4568C>A
 dbSNP
17g.43076583dupCA327931BRCA1c.4388dup (p.Ile1464TyrfsTer11)
c.4391dup (p.Ile1465TyrfsTer11)
c.4265dup (p.Ile1423TyrfsTer11)
c.4385dup (p.Ile1463TyrfsTer11)
c.4313dup (p.Ile1439TyrfsTer11)
c.1079dup (p.Ile361TyrfsTer11)
c.941dup (p.Ile315TyrfsTer11)
c.3503dup (p.Ile1169TyrfsTer11)
c.4268dup (p.Ile1424TyrfsTer11)
c.4457dup (p.Ile1487TyrfsTer11)
c.4250dup (p.Ile1418TyrfsTer11)
c.953dup (p.Ile319TyrfsTer11)
c.998dup (p.Ile334TyrfsTer11)
c.4454dup (p.Ile1486TyrfsTer11)
c.778dup
c.965dup (p.Ile323TyrfsTer11)
c.*4174dup (n.*4174dup)
c.682dup
c.704dup (p.Ile236TyrfsTer11)
c.707dup (p.Ile237TyrfsTer11)
c.5-12630dup (n.5-12630dup)
c.-43-2060dup (n.-43-2060dup)
c.-98-26391dup (n.-98-26391dup)
n.282dup
n.4527dup
n.4568dup
 ClinVar dbSNP gnomAD v4
17g.43076583delCA002818BRCA1c.4388del (p.Pro1463LeufsTer2)
c.4391del (p.Pro1464LeufsTer2)
c.4265del (p.Pro1422LeufsTer2)
c.4385del (p.Pro1462LeufsTer2)
c.4313del (p.Pro1438LeufsTer2)
c.1079del (p.Pro360LeufsTer2)
c.941del (p.Pro314LeufsTer2)
c.3503del (p.Pro1168LeufsTer2)
c.4268del (p.Pro1423LeufsTer2)
c.4457del (p.Pro1486LeufsTer2)
c.4250del (p.Pro1417LeufsTer2)
c.953del (p.Pro318LeufsTer2)
c.998del (p.Pro333LeufsTer2)
c.4454del (p.Pro1485LeufsTer2)
c.778del
c.965del (p.Pro322LeufsTer2)
c.*4174del (n.*4174del)
c.682del
c.704del (p.Pro235LeufsTer2)
c.707del (p.Pro236LeufsTer2)
c.5-12630del (n.5-12630del)
c.-43-2060del (n.-43-2060del)
c.-98-26391del (n.-98-26391del)
n.282del
n.4527del
n.4568del
 ClinVar dbSNP
17g.43076582G>ACA10592756BRCA1c.4387C>T (p.Pro1463Ser)
c.4390C>T (p.Pro1464Ser)
c.4264C>T (p.Pro1422Ser)
c.4384C>T (p.Pro1462Ser)
c.4312C>T (p.Pro1438Ser)
c.1078C>T (p.Pro360Ser)
c.940C>T (p.Pro314Ser)
c.3502C>T (p.Pro1168Ser)
c.4267C>T (p.Pro1423Ser)
c.4456C>T (p.Pro1486Ser)
c.4249C>T (p.Pro1417Ser)
c.952C>T (p.Pro318Ser)
c.997C>T (p.Pro333Ser)
c.4453C>T (p.Pro1485Ser)
c.777C>T
c.964C>T (p.Pro322Ser)
c.*4173C>T (n.*4173C>T)
c.681C>T
c.703C>T (p.Pro235Ser)
c.706C>T (p.Pro236Ser)
c.5-12631C>T (n.5-12631C>T)
c.-43-2061C>T (n.-43-2061C>T)
c.-98-26392C>T (n.-98-26392C>T)
n.281C>T
n.4526C>T
n.4567C>T
 ClinVar dbSNP
17g.43076582G>CCA10592757BRCA1c.4387C>G (p.Pro1463Ala)
c.4390C>G (p.Pro1464Ala)
c.4264C>G (p.Pro1422Ala)
c.4384C>G (p.Pro1462Ala)
c.4312C>G (p.Pro1438Ala)
c.1078C>G (p.Pro360Ala)
c.940C>G (p.Pro314Ala)
c.3502C>G (p.Pro1168Ala)
c.4267C>G (p.Pro1423Ala)
c.4456C>G (p.Pro1486Ala)
c.4249C>G (p.Pro1417Ala)
c.952C>G (p.Pro318Ala)
c.997C>G (p.Pro333Ala)
c.4453C>G (p.Pro1485Ala)
c.777C>G
c.964C>G (p.Pro322Ala)
c.*4173C>G (n.*4173C>G)
c.681C>G
c.703C>G (p.Pro235Ala)
c.706C>G (p.Pro236Ala)
c.5-12631C>G (n.5-12631C>G)
c.-43-2061C>G (n.-43-2061C>G)
c.-98-26392C>G (n.-98-26392C>G)
n.281C>G
n.4526C>G
n.4567C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076582G=CA2260775529BRCA1c.4387C= (p.Pro1463=)
c.4390C= (p.Pro1464=)
c.4264C= (p.Pro1422=)
c.4384C= (p.Pro1462=)
c.4312C= (p.Pro1438=)
c.1078C= (p.Pro360=)
c.940C= (p.Pro314=)
c.3502C= (p.Pro1168=)
c.4267C= (p.Pro1423=)
c.4456C= (p.Pro1486=)
c.4249C= (p.Pro1417=)
c.952C= (p.Pro318=)
c.997C= (p.Pro333=)
c.4453C= (p.Pro1485=)
c.777C=
c.964C= (p.Pro322=)
c.*4173C= (n.*4173C=)
c.681C=
c.703C= (p.Pro235=)
c.706C= (p.Pro236=)
c.5-12631C= (n.5-12631C=)
c.-43-2061C= (n.-43-2061C=)
c.-98-26392C= (n.-98-26392C=)
n.281C=
n.4526C=
n.4567C=
17g.43076582G>TCA10592758BRCA1c.4387C>A (p.Pro1463Thr)
c.4390C>A (p.Pro1464Thr)
c.4264C>A (p.Pro1422Thr)
c.4384C>A (p.Pro1462Thr)
c.4312C>A (p.Pro1438Thr)
c.1078C>A (p.Pro360Thr)
c.940C>A (p.Pro314Thr)
c.3502C>A (p.Pro1168Thr)
c.4267C>A (p.Pro1423Thr)
c.4456C>A (p.Pro1486Thr)
c.4249C>A (p.Pro1417Thr)
c.952C>A (p.Pro318Thr)
c.997C>A (p.Pro333Thr)
c.4453C>A (p.Pro1485Thr)
c.777C>A
c.964C>A (p.Pro322Thr)
c.*4173C>A (n.*4173C>A)
c.681C>A
c.703C>A (p.Pro235Thr)
c.706C>A (p.Pro236Thr)
c.5-12631C>A (n.5-12631C>A)
c.-43-2061C>A (n.-43-2061C>A)
c.-98-26392C>A (n.-98-26392C>A)
n.281C>A
n.4526C>A
n.4567C>A
 ClinVar dbSNP
17g.43076582_43076599delinsGGTATTCACTACTTTTCTCA2260775528BRCA1c.4370_4387delinsAGAAAAGTAGTGAATACC (p.Gln1457=)
c.4373_4390delinsAGAAAAGTAGTGAATACC (p.Gln1458=)
c.4247_4264delinsAGAAAAGTAGTGAATACC (p.Gln1416=)
c.4367_4384delinsAGAAAAGTAGTGAATACC (p.Gln1456=)
c.4295_4312delinsAGAAAAGTAGTGAATACC (p.Gln1432=)
c.1061_1078delinsAGAAAAGTAGTGAATACC (p.Gln354=)
c.923_940delinsAGAAAAGTAGTGAATACC (p.Gln308=)
c.3485_3502delinsAGAAAAGTAGTGAATACC (p.Gln1162=)
c.4250_4267delinsAGAAAAGTAGTGAATACC (p.Gln1417=)
c.4439_4456delinsAGAAAAGTAGTGAATACC (p.Gln1480=)
c.4232_4249delinsAGAAAAGTAGTGAATACC (p.Gln1411=)
c.935_952delinsAGAAAAGTAGTGAATACC (p.Gln312=)
c.980_997delinsAGAAAAGTAGTGAATACC (p.Gln327=)
c.4436_4453delinsAGAAAAGTAGTGAATACC (p.Gln1479=)
c.760_777delinsAGAAAAGTAGTGAATACC
c.947_964delinsAGAAAAGTAGTGAATACC (p.Gln316=)
c.*4156_*4173delinsAGAAAAGTAGTGAATACC (n.*4156_*4173delinsAGAAAAGTAGTGAATACC)
c.664_681delinsAGAAAAGTAGTGAATACC
c.686_703delinsAGAAAAGTAGTGAATACC (p.Gln229=)
c.689_706delinsAGAAAAGTAGTGAATACC (p.Gln230=)
c.5-12648_5-12631delinsAGAAAAGTAGTGAATACC (n.5-12648_5-12631delinsAGAAAAGTAGTGAATACC)
c.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC (n.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC)
c.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC (n.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC)
n.264_281delinsAGAAAAGTAGTGAATACC
n.4509_4526delinsAGAAAAGTAGTGAATACC
n.4550_4567delinsAGAAAAGTAGTGAATACC
17g.43076583G>ACA060200BRCA1c.4386C>T (p.Tyr1462=)
c.4389C>T (p.Tyr1463=)
c.4263C>T (p.Tyr1421=)
c.4383C>T (p.Tyr1461=)
c.4311C>T (p.Tyr1437=)
c.1077C>T (p.Tyr359=)
c.939C>T (p.Tyr313=)
c.3501C>T (p.Tyr1167=)
c.4266C>T (p.Tyr1422=)
c.4455C>T (p.Tyr1485=)
c.4248C>T (p.Tyr1416=)
c.951C>T (p.Tyr317=)
c.996C>T (p.Tyr332=)
c.4452C>T (p.Tyr1484=)
c.776C>T
c.963C>T (p.Tyr321=)
c.*4172C>T (n.*4172C>T)
c.680C>T
c.702C>T (p.Tyr234=)
c.705C>T (p.Tyr235=)
c.5-12632C>T (n.5-12632C>T)
c.-43-2062C>T (n.-43-2062C>T)
c.-98-26393C>T (n.-98-26393C>T)
n.280C>T
n.4525C>T
n.4566C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076583G>CCA002814BRCA1c.4386C>G (p.Tyr1462Ter)
c.4389C>G (p.Tyr1463Ter)
c.4263C>G (p.Tyr1421Ter)
c.4383C>G (p.Tyr1461Ter)
c.4311C>G (p.Tyr1437Ter)
c.1077C>G (p.Tyr359Ter)
c.939C>G (p.Tyr313Ter)
c.3501C>G (p.Tyr1167Ter)
c.4266C>G (p.Tyr1422Ter)
c.4455C>G (p.Tyr1485Ter)
c.4248C>G (p.Tyr1416Ter)
c.951C>G (p.Tyr317Ter)
c.996C>G (p.Tyr332Ter)
c.4452C>G (p.Tyr1484Ter)
c.776C>G
c.963C>G (p.Tyr321Ter)
c.*4172C>G (n.*4172C>G)
c.680C>G
c.702C>G (p.Tyr234Ter)
c.705C>G (p.Tyr235Ter)
c.5-12632C>G (n.5-12632C>G)
c.-43-2062C>G (n.-43-2062C>G)
c.-98-26393C>G (n.-98-26393C>G)
n.280C>G
n.4525C>G
n.4566C>G
 ClinVar dbSNP
17g.43076583G=CA2260775530BRCA1c.4386C= (p.Tyr1462=)
c.4389C= (p.Tyr1463=)
c.4263C= (p.Tyr1421=)
c.4383C= (p.Tyr1461=)
c.4311C= (p.Tyr1437=)
c.1077C= (p.Tyr359=)
c.939C= (p.Tyr313=)
c.3501C= (p.Tyr1167=)
c.4266C= (p.Tyr1422=)
c.4455C= (p.Tyr1485=)
c.4248C= (p.Tyr1416=)
c.951C= (p.Tyr317=)
c.996C= (p.Tyr332=)
c.4452C= (p.Tyr1484=)
c.776C=
c.963C= (p.Tyr321=)
c.*4172C= (n.*4172C=)
c.680C=
c.702C= (p.Tyr234=)
c.705C= (p.Tyr235=)
c.5-12632C= (n.5-12632C=)
c.-43-2062C= (n.-43-2062C=)
c.-98-26393C= (n.-98-26393C=)
n.280C=
n.4525C=
n.4566C=
17g.43076583G>TCA002813BRCA1c.4386C>A (p.Tyr1462Ter)
c.4389C>A (p.Tyr1463Ter)
c.4263C>A (p.Tyr1421Ter)
c.4383C>A (p.Tyr1461Ter)
c.4311C>A (p.Tyr1437Ter)
c.1077C>A (p.Tyr359Ter)
c.939C>A (p.Tyr313Ter)
c.3501C>A (p.Tyr1167Ter)
c.4266C>A (p.Tyr1422Ter)
c.4455C>A (p.Tyr1485Ter)
c.4248C>A (p.Tyr1416Ter)
c.951C>A (p.Tyr317Ter)
c.996C>A (p.Tyr332Ter)
c.4452C>A (p.Tyr1484Ter)
c.776C>A
c.963C>A (p.Tyr321Ter)
c.*4172C>A (n.*4172C>A)
c.680C>A
c.702C>A (p.Tyr234Ter)
c.705C>A (p.Tyr235Ter)
c.5-12632C>A (n.5-12632C>A)
c.-43-2062C>A (n.-43-2062C>A)
c.-98-26393C>A (n.-98-26393C>A)
n.280C>A
n.4525C>A
n.4566C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076585_43076601delCA002804BRCA1c.4370_4386del (p.Gln1457ProfsTer12)
c.4373_4389del (p.Gln1458ProfsTer12)
c.4247_4263del (p.Gln1416ProfsTer12)
c.4367_4383del (p.Gln1456ProfsTer12)
c.4295_4311del (p.Gln1432ProfsTer12)
c.1061_1077del (p.Gln354ProfsTer12)
c.923_939del (p.Gln308ProfsTer12)
c.3485_3501del (p.Gln1162ProfsTer12)
c.4250_4266del (p.Gln1417ProfsTer12)
c.4439_4455del (p.Gln1480ProfsTer12)
c.4232_4248del (p.Gln1411ProfsTer12)
c.935_951del (p.Gln312ProfsTer12)
c.980_996del (p.Gln327ProfsTer12)
c.4436_4452del (p.Gln1479ProfsTer12)
c.760_776del
c.947_963del (p.Gln316ProfsTer12)
c.*4156_*4172del (n.*4156_*4172del)
c.664_680del
c.686_702del (p.Gln229ProfsTer12)
c.689_705del (p.Gln230ProfsTer12)
c.5-12648_5-12632del (n.5-12648_5-12632del)
c.-43-2078_-43-2062del (n.-43-2078_-43-2062del)
c.-98-26409_-98-26393del (n.-98-26409_-98-26393del)
n.264_280del
n.4509_4525del
n.4550_4566del
 ClinVar dbSNP
17g.43076584T>ACA10592759BRCA1c.4385A>T (p.Tyr1462Phe)
c.4388A>T (p.Tyr1463Phe)
c.4262A>T (p.Tyr1421Phe)
c.4382A>T (p.Tyr1461Phe)
c.4310A>T (p.Tyr1437Phe)
c.1076A>T (p.Tyr359Phe)
c.938A>T (p.Tyr313Phe)
c.3500A>T (p.Tyr1167Phe)
c.4265A>T (p.Tyr1422Phe)
c.4454A>T (p.Tyr1485Phe)
c.4247A>T (p.Tyr1416Phe)
c.950A>T (p.Tyr317Phe)
c.995A>T (p.Tyr332Phe)
c.4451A>T (p.Tyr1484Phe)
c.775A>T
c.962A>T (p.Tyr321Phe)
c.*4171A>T (n.*4171A>T)
c.679A>T
c.701A>T (p.Tyr234Phe)
c.704A>T (p.Tyr235Phe)
c.5-12633A>T (n.5-12633A>T)
c.-43-2063A>T (n.-43-2063A>T)
c.-98-26394A>T (n.-98-26394A>T)
n.279A>T
n.4524A>T
n.4565A>T
 ClinVar dbSNP
17g.43076584T>CCA10592760BRCA1c.4385A>G (p.Tyr1462Cys)
c.4388A>G (p.Tyr1463Cys)
c.4262A>G (p.Tyr1421Cys)
c.4382A>G (p.Tyr1461Cys)
c.4310A>G (p.Tyr1437Cys)
c.1076A>G (p.Tyr359Cys)
c.938A>G (p.Tyr313Cys)
c.3500A>G (p.Tyr1167Cys)
c.4265A>G (p.Tyr1422Cys)
c.4454A>G (p.Tyr1485Cys)
c.4247A>G (p.Tyr1416Cys)
c.950A>G (p.Tyr317Cys)
c.995A>G (p.Tyr332Cys)
c.4451A>G (p.Tyr1484Cys)
c.775A>G
c.962A>G (p.Tyr321Cys)
c.*4171A>G (n.*4171A>G)
c.679A>G
c.701A>G (p.Tyr234Cys)
c.704A>G (p.Tyr235Cys)
c.5-12633A>G (n.5-12633A>G)
c.-43-2063A>G (n.-43-2063A>G)
c.-98-26394A>G (n.-98-26394A>G)
n.279A>G
n.4524A>G
n.4565A>G
17g.43076584T>GCA10592761BRCA1c.4385A>C (p.Tyr1462Ser)
c.4388A>C (p.Tyr1463Ser)
c.4262A>C (p.Tyr1421Ser)
c.4382A>C (p.Tyr1461Ser)
c.4310A>C (p.Tyr1437Ser)
c.1076A>C (p.Tyr359Ser)
c.938A>C (p.Tyr313Ser)
c.3500A>C (p.Tyr1167Ser)
c.4265A>C (p.Tyr1422Ser)
c.4454A>C (p.Tyr1485Ser)
c.4247A>C (p.Tyr1416Ser)
c.950A>C (p.Tyr317Ser)
c.995A>C (p.Tyr332Ser)
c.4451A>C (p.Tyr1484Ser)
c.775A>C
c.962A>C (p.Tyr321Ser)
c.*4171A>C (n.*4171A>C)
c.679A>C
c.701A>C (p.Tyr234Ser)
c.704A>C (p.Tyr235Ser)
c.5-12633A>C (n.5-12633A>C)
c.-43-2063A>C (n.-43-2063A>C)
c.-98-26394A>C (n.-98-26394A>C)
n.279A>C
n.4524A>C
n.4565A>C
 dbSNP
17g.43076584T=CA2260775532BRCA1c.4385A= (p.Tyr1462=)
c.4388A= (p.Tyr1463=)
c.4262A= (p.Tyr1421=)
c.4382A= (p.Tyr1461=)
c.4310A= (p.Tyr1437=)
c.1076A= (p.Tyr359=)
c.938A= (p.Tyr313=)
c.3500A= (p.Tyr1167=)
c.4265A= (p.Tyr1422=)
c.4454A= (p.Tyr1485=)
c.4247A= (p.Tyr1416=)
c.950A= (p.Tyr317=)
c.995A= (p.Tyr332=)
c.4451A= (p.Tyr1484=)
c.775A=
c.962A= (p.Tyr321=)
c.*4171A= (n.*4171A=)
c.679A=
c.701A= (p.Tyr234=)
c.704A= (p.Tyr235=)
c.5-12633A= (n.5-12633A=)
c.-43-2063A= (n.-43-2063A=)
c.-98-26394A= (n.-98-26394A=)
n.279A=
n.4524A=
n.4565A=
17g.43076584_43076585delinsTACA2260775531BRCA1c.4384_4385delinsTA (p.Tyr1462=)
c.4387_4388delinsTA (p.Tyr1463=)
c.4261_4262delinsTA (p.Tyr1421=)
c.4381_4382delinsTA (p.Tyr1461=)
c.4309_4310delinsTA (p.Tyr1437=)
c.1075_1076delinsTA (p.Tyr359=)
c.937_938delinsTA (p.Tyr313=)
c.3499_3500delinsTA (p.Tyr1167=)
c.4264_4265delinsTA (p.Tyr1422=)
c.4453_4454delinsTA (p.Tyr1485=)
c.4246_4247delinsTA (p.Tyr1416=)
c.949_950delinsTA (p.Tyr317=)
c.994_995delinsTA (p.Tyr332=)
c.4450_4451delinsTA (p.Tyr1484=)
c.774_775delinsTA
c.961_962delinsTA (p.Tyr321=)
c.*4170_*4171delinsTA (n.*4170_*4171delinsTA)
c.678_679delinsTA
c.700_701delinsTA (p.Tyr234=)
c.703_704delinsTA (p.Tyr235=)
c.5-12634_5-12633delinsTA (n.5-12634_5-12633delinsTA)
c.-43-2064_-43-2063delinsTA (n.-43-2064_-43-2063delinsTA)
c.-98-26395_-98-26394delinsTA (n.-98-26395_-98-26394delinsTA)
n.278_279delinsTA
n.4523_4524delinsTA
n.4564_4565delinsTA
17g.43076585_43076587dupCA919844319BRCA1c.4383_4385dup (p.Tyr1462Ter)
c.4386_4388dup (p.Tyr1463Ter)
c.4260_4262dup (p.Tyr1421Ter)
c.4380_4382dup (p.Tyr1461Ter)
c.4308_4310dup (p.Tyr1437Ter)
c.1074_1076dup (p.Tyr359Ter)
c.936_938dup (p.Tyr313Ter)
c.3498_3500dup (p.Tyr1167Ter)
c.4263_4265dup (p.Tyr1422Ter)
c.4452_4454dup (p.Tyr1485Ter)
c.4245_4247dup (p.Tyr1416Ter)
c.948_950dup (p.Tyr317Ter)
c.993_995dup (p.Tyr332Ter)
c.4449_4451dup (p.Tyr1484Ter)
c.773_775dup
c.960_962dup (p.Tyr321Ter)
c.*4169_*4171dup (n.*4169_*4171dup)
c.677_679dup
c.699_701dup (p.Tyr234Ter)
c.702_704dup (p.Tyr235Ter)
c.5-12635_5-12633dup (n.5-12635_5-12633dup)
c.-43-2065_-43-2063dup (n.-43-2065_-43-2063dup)
c.-98-26396_-98-26394dup (n.-98-26396_-98-26394dup)
n.277_279dup
n.4522_4524dup
n.4563_4565dup
 dbSNP

Number of alleles fetched