Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.43078282_43084361dupCA16609627BRCA1c.4186-1783_4358-1668dup
c.4186-1783_4358-1665dup
c.4060-1783_4232-1665dup
c.4183-1786_4352-1665dup
c.4108-1783_4280-1665dup
c.874-1783_1046-1665dup
c.736-1783_908-1665dup
c.3298-1783_3470-1665dup
c.4063-1783_4235-1665dup
c.4186-1783_4423+1055dup
c.4045-1783_4217-1665dup
c.754-1786_923-1668dup
c.796-1783_968-1668dup
c.507-1783_744+1055dup
c.760-1783_932-1665dup
c.*3969-1783_*4141-1665dup
c.480-1783_652-1668dup
c.877-1783_1049-1668dup
c.499-1783_671-1665dup
c.502-1783_674-1665dup
c.5-20407_5-14328dup (n.5-20407_5-14328dup)
c.-43-9837_-43-3758dup (n.-43-9837_-43-3758dup)
c.-98-34168_-98-28089dup (n.-98-34168_-98-28089dup)
n.4322-1783_4494-1665dup
n.4363-1783_4535-1665dup
17g.43078305_43084385dupCA10602589BRCA1c.4186-1787_4358-1671dup
c.4186-1787_4358-1668dup
c.4060-1787_4232-1668dup
c.4183-1790_4352-1668dup
c.4108-1787_4280-1668dup
c.874-1787_1046-1668dup
c.736-1787_908-1668dup
c.3298-1787_3470-1668dup
c.4063-1787_4235-1668dup
c.4186-1787_4423+1052dup
c.4045-1787_4217-1668dup
c.754-1790_923-1671dup
c.796-1787_968-1671dup
c.507-1787_744+1052dup
c.760-1787_932-1668dup
c.*3969-1787_*4141-1668dup
c.480-1787_652-1671dup
c.877-1787_1049-1671dup
c.499-1787_671-1668dup
c.502-1787_674-1668dup
c.5-20411_5-14331dup (n.5-20411_5-14331dup)
c.-43-9841_-43-3761dup (n.-43-9841_-43-3761dup)
c.-98-34172_-98-28092dup (n.-98-34172_-98-28092dup)
n.4322-1787_4494-1668dup
n.4363-1787_4535-1668dup
17g.43079254_43082669dupCA2581463413BRCA1c.4186-93_4358-2642dup
c.4186-93_4358-2639dup
c.4060-93_4232-2639dup
c.4183-96_4352-2639dup
c.4108-93_4280-2639dup
c.874-93_1046-2639dup
c.736-93_908-2639dup
c.3298-93_3470-2639dup
c.4063-93_4235-2639dup
c.4186-93_4423+81dup
c.4045-93_4217-2639dup
c.754-96_923-2642dup
c.796-93_968-2642dup
c.507-93_744+81dup
c.760-93_932-2639dup
c.*3969-93_*4141-2639dup
c.480-93_652-2642dup
c.877-93_1049-2642dup
c.499-93_671-2639dup
c.502-93_674-2639dup
c.5-18717_5-15302dup (n.5-18717_5-15302dup)
c.-43-8147_-43-4732dup (n.-43-8147_-43-4732dup)
c.-98-32478_-98-29063dup (n.-98-32478_-98-29063dup)
n.79+14_252-2642dup
n.4322-93_4494-2639dup
n.4363-93_4535-2639dup
17g.43080387_43084221delCA10602590BRCA1c.4186-1643_4357+2020del
c.4060-1643_4231+2020del
c.4183-1646_4351+2020del
c.4108-1643_4279+2020del
c.874-1643_1045+2020del
c.736-1643_907+2020del
c.3298-1643_3469+2020del
c.4063-1643_4234+2020del
c.4186-1643_4358-985del
c.4045-1643_4216+2020del
c.754-1646_922+2020del
c.796-1643_967+2020del
c.507-1643_679-985del
c.760-1643_931+2020del
c.*3969-1643_*4140+2020del
c.480-1643_651+2020del
c.877-1643_1048+2020del
c.499-1643_670+2020del
c.502-1643_673+2020del
c.5-20267_5-16433del (n.5-20267_5-16433del)
c.-43-9697_-43-5863del (n.-43-9697_-43-5863del)
c.-98-34028_-98-30194del (n.-98-34028_-98-30194del)
n.4322-1643_4493+2020del
n.4363-1643_4534+2020del
 ClinVar
17g.43080468_43083426delCA10602591BRCA1c.4186-832_4357+1955del
c.4060-832_4231+1955del
c.4183-835_4351+1955del
c.4108-832_4279+1955del
c.874-832_1045+1955del
c.736-832_907+1955del
c.3298-832_3469+1955del
c.4063-832_4234+1955del
c.4186-832_4358-1050del
c.4045-832_4216+1955del
c.754-835_922+1955del
c.796-832_967+1955del
c.507-832_679-1050del
c.760-832_931+1955del
c.*3969-832_*4140+1955del
c.480-832_651+1955del
c.877-832_1048+1955del
c.499-832_670+1955del
c.502-832_673+1955del
c.5-19456_5-16498del (n.5-19456_5-16498del)
c.-43-8886_-43-5928del (n.-43-8886_-43-5928del)
c.-98-33217_-98-30259del (n.-98-33217_-98-30259del)
n.4322-832_4493+1955del
n.4363-832_4534+1955del
 ClinVar
17g.43082274_43082543dupCA273822BRCA1c.4218_4357+130dup
c.4092_4231+130dup
c.4212_4351+130dup
c.4140_4279+130dup
c.906_1045+130dup
c.768_907+130dup
c.3330_3469+130dup
c.4095_4234+130dup
c.4077_4216+130dup
c.783_922+130dup
c.828_967+130dup
c.539_678+130dup
c.792_931+130dup
c.*4001_*4140+130dup
c.512_651+130dup
c.909_1048+130dup
c.531_670+130dup
c.534_673+130dup
c.5-18592_5-18323dup (n.5-18592_5-18323dup)
c.-43-8022_-43-7753dup (n.-43-8022_-43-7753dup)
c.-98-32353_-98-32084dup (n.-98-32353_-98-32084dup)
n.112_251+130dup
n.4354_4493+130dup
n.4395_4534+130dup
17g.43082407_43082578dupCA658655494BRCA1c.4186_4357dup
c.4060_4231dup
c.4183-3_4351dup
c.4108_4279dup
c.874_1045dup
c.736_907dup
c.3298_3469dup
c.4063_4234dup
c.4045_4216dup
c.754-3_922dup
c.796_967dup
c.507_678dup
c.760_931dup
c.*3969_*4140dup
c.480_651dup
c.877_1048dup
c.499_670dup
c.502_673dup
c.5-18624_5-18453dup (n.5-18624_5-18453dup)
c.-43-8054_-43-7883dup (n.-43-8054_-43-7883dup)
c.-98-32385_-98-32214dup (n.-98-32385_-98-32214dup)
n.80_251dup
n.4322_4493dup
n.4363_4534dup
 ClinVar
17g.43082517_43082518insAGTTAGAAGGCTGGCTCCCATGCTGTTCTAACACAGCTTCA10602593BRCA1c.4281_4282insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4155_4156insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4275_4276insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4203_4204insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.969_970insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.831_832insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.3393_3394insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4158_4159insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.4140_4141insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.846_847insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.891_892insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.602_603insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.855_856insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.*4064_*4065insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.*4064_*4065insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.575_576insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.972_973insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.594_595insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.597_598insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
c.5-18529_5-18528insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.5-18529_5-18528insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.-43-7959_-43-7958insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.-43-7959_-43-7958insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
c.-98-32290_-98-32289insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC (n.-98-32290_-98-32289insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC)
n.175_176insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
n.4417_4418insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
n.4458_4459insTAAGCTGTGTTAGAACAGCATGGGAGCCAGCCTTCTAAC
 ClinVar dbSNP
17g.43082493_43082567delinsCTCCCATGCTGTTCTAACACAGCTTCTAGTTCAGCCATTTCCTGCTGGAGCTTTATCAGGTTATGTTGCATGGTACA2260778020BRCA1c.4194_4268delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1398=)
c.4068_4142delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1356=)
c.4188_4262delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1396=)
c.4116_4190delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1372=)
c.882_956delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp294=)
c.744_818delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp248=)
c.3306_3380delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1102=)
c.4071_4145delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1357=)
c.4053_4127delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp1351=)
c.759_833delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp253=)
c.804_878delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp268=)
c.515_589delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
c.768_842delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp256=)
c.*3977_*4051delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.*3977_*4051delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG)
c.488_562delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
c.885_959delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp295=)
c.507_581delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp169=)
c.510_584delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (p.Asp170=)
c.5-18616_5-18542delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.5-18616_5-18542delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG)
c.-43-8046_-43-7972delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.-43-8046_-43-7972delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG)
c.-98-32377_-98-32303delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG (n.-98-32377_-98-32303delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG)
n.88_162delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
n.4330_4404delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
n.4371_4445delinsTACCATGCAACATAACCTGATAAAGCTCCAGCAGGAAATGGCTGAACTAGAAGCTGTGTTAGAACAGCATGGGAG
17g.43082498_43082571delCA915950057BRCA1c.4194_4267del (p.Asp1398GlufsTer5)
c.4068_4141del (p.Asp1356GlufsTer5)
c.4188_4261del (p.Asp1396GlufsTer5)
c.4116_4189del (p.Asp1372GlufsTer5)
c.882_955del (p.Asp294GlufsTer5)
c.744_817del (p.Asp248GlufsTer5)
c.3306_3379del (p.Asp1102GlufsTer5)
c.4071_4144del (p.Asp1357GlufsTer5)
c.4053_4126del (p.Asp1351GlufsTer5)
c.759_832del (p.Asp253GlufsTer5)
c.804_877del (p.Asp268GlufsTer5)
c.515_588del
c.768_841del (p.Asp256GlufsTer5)
c.*3977_*4050del (n.*3977_*4050del)
c.488_561del
c.885_958del (p.Asp295GlufsTer5)
c.507_580del (p.Asp169GlufsTer5)
c.510_583del (p.Asp170GlufsTer5)
c.5-18616_5-18543del (n.5-18616_5-18543del)
c.-43-8046_-43-7973del (n.-43-8046_-43-7973del)
c.-98-32377_-98-32304del (n.-98-32377_-98-32304del)
n.88_161del
n.4330_4403del
n.4371_4444del
 ClinVar dbSNP
17g.43082502T>ACA10593203BRCA1c.4259A>T (p.Gln1420Leu)
c.4133A>T (p.Gln1378Leu)
c.4253A>T (p.Gln1418Leu)
c.4181A>T (p.Gln1394Leu)
c.947A>T (p.Gln316Leu)
c.809A>T (p.Gln270Leu)
c.3371A>T (p.Gln1124Leu)
c.4136A>T (p.Gln1379Leu)
c.4118A>T (p.Gln1373Leu)
c.824A>T (p.Gln275Leu)
c.869A>T (p.Gln290Leu)
c.580A>T
c.833A>T (p.Gln278Leu)
c.*4042A>T (n.*4042A>T)
c.553A>T
c.950A>T (p.Gln317Leu)
c.572A>T (p.Gln191Leu)
c.575A>T (p.Gln192Leu)
c.5-18551A>T (n.5-18551A>T)
c.-43-7981A>T (n.-43-7981A>T)
c.-98-32312A>T (n.-98-32312A>T)
n.153A>T
n.4395A>T
n.4436A>T
 dbSNP
17g.43082502T>CCA10593204BRCA1c.4259A>G (p.Gln1420Arg)
c.4133A>G (p.Gln1378Arg)
c.4253A>G (p.Gln1418Arg)
c.4181A>G (p.Gln1394Arg)
c.947A>G (p.Gln316Arg)
c.809A>G (p.Gln270Arg)
c.3371A>G (p.Gln1124Arg)
c.4136A>G (p.Gln1379Arg)
c.4118A>G (p.Gln1373Arg)
c.824A>G (p.Gln275Arg)
c.869A>G (p.Gln290Arg)
c.580A>G
c.833A>G (p.Gln278Arg)
c.*4042A>G (n.*4042A>G)
c.553A>G
c.950A>G (p.Gln317Arg)
c.572A>G (p.Gln191Arg)
c.575A>G (p.Gln192Arg)
c.5-18551A>G (n.5-18551A>G)
c.-43-7981A>G (n.-43-7981A>G)
c.-98-32312A>G (n.-98-32312A>G)
n.153A>G
n.4395A>G
n.4436A>G
17g.43082502T>GCA10593205BRCA1c.4259A>C (p.Gln1420Pro)
c.4133A>C (p.Gln1378Pro)
c.4253A>C (p.Gln1418Pro)
c.4181A>C (p.Gln1394Pro)
c.947A>C (p.Gln316Pro)
c.809A>C (p.Gln270Pro)
c.3371A>C (p.Gln1124Pro)
c.4136A>C (p.Gln1379Pro)
c.4118A>C (p.Gln1373Pro)
c.824A>C (p.Gln275Pro)
c.869A>C (p.Gln290Pro)
c.580A>C
c.833A>C (p.Gln278Pro)
c.*4042A>C (n.*4042A>C)
c.553A>C
c.950A>C (p.Gln317Pro)
c.572A>C (p.Gln191Pro)
c.575A>C (p.Gln192Pro)
c.5-18551A>C (n.5-18551A>C)
c.-43-7981A>C (n.-43-7981A>C)
c.-98-32312A>C (n.-98-32312A>C)
n.153A>C
n.4395A>C
n.4436A>C
17g.43082503delCA2697559867BRCA1c.4258del (p.Gln1420SerfsTer14)
c.4132del (p.Gln1378SerfsTer14)
c.4252del (p.Gln1418SerfsTer14)
c.4180del (p.Gln1394SerfsTer14)
c.946del (p.Gln316SerfsTer14)
c.808del (p.Gln270SerfsTer14)
c.3370del (p.Gln1124SerfsTer14)
c.4135del (p.Gln1379SerfsTer14)
c.4117del (p.Gln1373SerfsTer14)
c.823del (p.Gln275SerfsTer14)
c.868del (p.Gln290SerfsTer14)
c.579del
c.832del (p.Gln278SerfsTer14)
c.*4041del (n.*4041del)
c.552del
c.949del (p.Gln317SerfsTer14)
c.571del (p.Gln191SerfsTer14)
c.574del (p.Gln192SerfsTer14)
c.5-18552del (n.5-18552del)
c.-43-7982del (n.-43-7982del)
c.-98-32313del (n.-98-32313del)
n.152del
n.4394del
n.4435del
 ClinVar
17g.43082503G>ACA002737BRCA1c.4258C>T (p.Gln1420Ter)
c.4132C>T (p.Gln1378Ter)
c.4252C>T (p.Gln1418Ter)
c.4180C>T (p.Gln1394Ter)
c.946C>T (p.Gln316Ter)
c.808C>T (p.Gln270Ter)
c.3370C>T (p.Gln1124Ter)
c.4135C>T (p.Gln1379Ter)
c.4117C>T (p.Gln1373Ter)
c.823C>T (p.Gln275Ter)
c.868C>T (p.Gln290Ter)
c.579C>T
c.832C>T (p.Gln278Ter)
c.*4041C>T (n.*4041C>T)
c.552C>T
c.949C>T (p.Gln317Ter)
c.571C>T (p.Gln191Ter)
c.574C>T (p.Gln192Ter)
c.5-18552C>T (n.5-18552C>T)
c.-43-7982C>T (n.-43-7982C>T)
c.-98-32313C>T (n.-98-32313C>T)
n.152C>T
n.4394C>T
n.4435C>T
 ClinVar dbSNP
17g.43082503G>CCA10580528BRCA1c.4258C>G (p.Gln1420Glu)
c.4132C>G (p.Gln1378Glu)
c.4252C>G (p.Gln1418Glu)
c.4180C>G (p.Gln1394Glu)
c.946C>G (p.Gln316Glu)
c.808C>G (p.Gln270Glu)
c.3370C>G (p.Gln1124Glu)
c.4135C>G (p.Gln1379Glu)
c.4117C>G (p.Gln1373Glu)
c.823C>G (p.Gln275Glu)
c.868C>G (p.Gln290Glu)
c.579C>G
c.832C>G (p.Gln278Glu)
c.*4041C>G (n.*4041C>G)
c.552C>G
c.949C>G (p.Gln317Glu)
c.571C>G (p.Gln191Glu)
c.574C>G (p.Gln192Glu)
c.5-18552C>G (n.5-18552C>G)
c.-43-7982C>G (n.-43-7982C>G)
c.-98-32313C>G (n.-98-32313C>G)
n.152C>G
n.4394C>G
n.4435C>G
 ClinVar dbSNP gnomAD v4
17g.43082503G=CA2260778028BRCA1c.4258C= (p.Gln1420=)
c.4132C= (p.Gln1378=)
c.4252C= (p.Gln1418=)
c.4180C= (p.Gln1394=)
c.946C= (p.Gln316=)
c.808C= (p.Gln270=)
c.3370C= (p.Gln1124=)
c.4135C= (p.Gln1379=)
c.4117C= (p.Gln1373=)
c.823C= (p.Gln275=)
c.868C= (p.Gln290=)
c.579C=
c.832C= (p.Gln278=)
c.*4041C= (n.*4041C=)
c.552C=
c.949C= (p.Gln317=)
c.571C= (p.Gln191=)
c.574C= (p.Gln192=)
c.5-18552C= (n.5-18552C=)
c.-43-7982C= (n.-43-7982C=)
c.-98-32313C= (n.-98-32313C=)
n.152C=
n.4394C=
n.4435C=
17g.43082503G>TCA10593206BRCA1c.4258C>A (p.Gln1420Lys)
c.4132C>A (p.Gln1378Lys)
c.4252C>A (p.Gln1418Lys)
c.4180C>A (p.Gln1394Lys)
c.946C>A (p.Gln316Lys)
c.808C>A (p.Gln270Lys)
c.3370C>A (p.Gln1124Lys)
c.4135C>A (p.Gln1379Lys)
c.4117C>A (p.Gln1373Lys)
c.823C>A (p.Gln275Lys)
c.868C>A (p.Gln290Lys)
c.579C>A
c.832C>A (p.Gln278Lys)
c.*4041C>A (n.*4041C>A)
c.552C>A
c.949C>A (p.Gln317Lys)
c.571C>A (p.Gln191Lys)
c.574C>A (p.Gln192Lys)
c.5-18552C>A (n.5-18552C>A)
c.-43-7982C>A (n.-43-7982C>A)
c.-98-32313C>A (n.-98-32313C>A)
n.152C>A
n.4394C>A
n.4435C>A
17g.43082504T>ACA10593207BRCA1c.4257A>T (p.Glu1419Asp)
c.4131A>T (p.Glu1377Asp)
c.4251A>T (p.Glu1417Asp)
c.4179A>T (p.Glu1393Asp)
c.945A>T (p.Glu315Asp)
c.807A>T (p.Glu269Asp)
c.3369A>T (p.Glu1123Asp)
c.4134A>T (p.Glu1378Asp)
c.4116A>T (p.Glu1372Asp)
c.822A>T (p.Glu274Asp)
c.867A>T (p.Glu289Asp)
c.578A>T
c.831A>T (p.Glu277Asp)
c.*4040A>T (n.*4040A>T)
c.551A>T
c.948A>T (p.Glu316Asp)
c.570A>T (p.Glu190Asp)
c.573A>T (p.Glu191Asp)
c.5-18553A>T (n.5-18553A>T)
c.-43-7983A>T (n.-43-7983A>T)
c.-98-32314A>T (n.-98-32314A>T)
n.151A>T
n.4393A>T
n.4434A>T
 dbSNP
17g.43082504T>CCA500148402BRCA1c.4257A>G (p.Glu1419=)
c.4131A>G (p.Glu1377=)
c.4251A>G (p.Glu1417=)
c.4179A>G (p.Glu1393=)
c.945A>G (p.Glu315=)
c.807A>G (p.Glu269=)
c.3369A>G (p.Glu1123=)
c.4134A>G (p.Glu1378=)
c.4116A>G (p.Glu1372=)
c.822A>G (p.Glu274=)
c.867A>G (p.Glu289=)
c.578A>G
c.831A>G (p.Glu277=)
c.*4040A>G (n.*4040A>G)
c.551A>G
c.948A>G (p.Glu316=)
c.570A>G (p.Glu190=)
c.573A>G (p.Glu191=)
c.5-18553A>G (n.5-18553A>G)
c.-43-7983A>G (n.-43-7983A>G)
c.-98-32314A>G (n.-98-32314A>G)
n.151A>G
n.4393A>G
n.4434A>G
 ClinVar dbSNP gnomAD v4
17g.43082504T>GCA10593208BRCA1c.4257A>C (p.Glu1419Asp)
c.4131A>C (p.Glu1377Asp)
c.4251A>C (p.Glu1417Asp)
c.4179A>C (p.Glu1393Asp)
c.945A>C (p.Glu315Asp)
c.807A>C (p.Glu269Asp)
c.3369A>C (p.Glu1123Asp)
c.4134A>C (p.Glu1378Asp)
c.4116A>C (p.Glu1372Asp)
c.822A>C (p.Glu274Asp)
c.867A>C (p.Glu289Asp)
c.578A>C
c.831A>C (p.Glu277Asp)
c.*4040A>C (n.*4040A>C)
c.551A>C
c.948A>C (p.Glu316Asp)
c.570A>C (p.Glu190Asp)
c.573A>C (p.Glu191Asp)
c.5-18553A>C (n.5-18553A>C)
c.-43-7983A>C (n.-43-7983A>C)
c.-98-32314A>C (n.-98-32314A>C)
n.151A>C
n.4393A>C
n.4434A>C
 dbSNP
17g.43082505T>ACA10593209BRCA1c.4256A>T (p.Glu1419Val)
c.4130A>T (p.Glu1377Val)
c.4250A>T (p.Glu1417Val)
c.4178A>T (p.Glu1393Val)
c.944A>T (p.Glu315Val)
c.806A>T (p.Glu269Val)
c.3368A>T (p.Glu1123Val)
c.4133A>T (p.Glu1378Val)
c.4115A>T (p.Glu1372Val)
c.821A>T (p.Glu274Val)
c.866A>T (p.Glu289Val)
c.577A>T
c.830A>T (p.Glu277Val)
c.*4039A>T (n.*4039A>T)
c.550A>T
c.947A>T (p.Glu316Val)
c.569A>T (p.Glu190Val)
c.572A>T (p.Glu191Val)
c.5-18554A>T (n.5-18554A>T)
c.-43-7984A>T (n.-43-7984A>T)
c.-98-32315A>T (n.-98-32315A>T)
n.150A>T
n.4392A>T
n.4433A>T
 dbSNP
17g.43082505T>CCA10593210BRCA1c.4256A>G (p.Glu1419Gly)
c.4130A>G (p.Glu1377Gly)
c.4250A>G (p.Glu1417Gly)
c.4178A>G (p.Glu1393Gly)
c.944A>G (p.Glu315Gly)
c.806A>G (p.Glu269Gly)
c.3368A>G (p.Glu1123Gly)
c.4133A>G (p.Glu1378Gly)
c.4115A>G (p.Glu1372Gly)
c.821A>G (p.Glu274Gly)
c.866A>G (p.Glu289Gly)
c.577A>G
c.830A>G (p.Glu277Gly)
c.*4039A>G (n.*4039A>G)
c.550A>G
c.947A>G (p.Glu316Gly)
c.569A>G (p.Glu190Gly)
c.572A>G (p.Glu191Gly)
c.5-18554A>G (n.5-18554A>G)
c.-43-7984A>G (n.-43-7984A>G)
c.-98-32315A>G (n.-98-32315A>G)
n.150A>G
n.4392A>G
n.4433A>G
17g.43082505T>GCA10593211BRCA1c.4256A>C (p.Glu1419Ala)
c.4130A>C (p.Glu1377Ala)
c.4250A>C (p.Glu1417Ala)
c.4178A>C (p.Glu1393Ala)
c.944A>C (p.Glu315Ala)
c.806A>C (p.Glu269Ala)
c.3368A>C (p.Glu1123Ala)
c.4133A>C (p.Glu1378Ala)
c.4115A>C (p.Glu1372Ala)
c.821A>C (p.Glu274Ala)
c.866A>C (p.Glu289Ala)
c.577A>C
c.830A>C (p.Glu277Ala)
c.*4039A>C (n.*4039A>C)
c.550A>C
c.947A>C (p.Glu316Ala)
c.569A>C (p.Glu190Ala)
c.572A>C (p.Glu191Ala)
c.5-18554A>C (n.5-18554A>C)
c.-43-7984A>C (n.-43-7984A>C)
c.-98-32315A>C (n.-98-32315A>C)
n.150A>C
n.4392A>C
n.4433A>C
17g.43082506C>ACA10589675BRCA1c.4255G>T (p.Glu1419Ter)
c.4129G>T (p.Glu1377Ter)
c.4249G>T (p.Glu1417Ter)
c.4177G>T (p.Glu1393Ter)
c.943G>T (p.Glu315Ter)
c.805G>T (p.Glu269Ter)
c.3367G>T (p.Glu1123Ter)
c.4132G>T (p.Glu1378Ter)
c.4114G>T (p.Glu1372Ter)
c.820G>T (p.Glu274Ter)
c.865G>T (p.Glu289Ter)
c.576G>T
c.829G>T (p.Glu277Ter)
c.*4038G>T (n.*4038G>T)
c.549G>T
c.946G>T (p.Glu316Ter)
c.568G>T (p.Glu190Ter)
c.571G>T (p.Glu191Ter)
c.5-18555G>T (n.5-18555G>T)
c.-43-7985G>T (n.-43-7985G>T)
c.-98-32316G>T (n.-98-32316G>T)
n.149G>T
n.4391G>T
n.4432G>T
 ClinVar dbSNP gnomAD v4
17g.43082506C=CA2260778029BRCA1c.4255G= (p.Glu1419=)
c.4129G= (p.Glu1377=)
c.4249G= (p.Glu1417=)
c.4177G= (p.Glu1393=)
c.943G= (p.Glu315=)
c.805G= (p.Glu269=)
c.3367G= (p.Glu1123=)
c.4132G= (p.Glu1378=)
c.4114G= (p.Glu1372=)
c.820G= (p.Glu274=)
c.865G= (p.Glu289=)
c.576G=
c.829G= (p.Glu277=)
c.*4038G= (n.*4038G=)
c.549G=
c.946G= (p.Glu316=)
c.568G= (p.Glu190=)
c.571G= (p.Glu191=)
c.5-18555G= (n.5-18555G=)
c.-43-7985G= (n.-43-7985G=)
c.-98-32316G= (n.-98-32316G=)
n.149G=
n.4391G=
n.4432G=
17g.43082506C>GCA002735BRCA1c.4255G>C (p.Glu1419Gln)
c.4129G>C (p.Glu1377Gln)
c.4249G>C (p.Glu1417Gln)
c.4177G>C (p.Glu1393Gln)
c.943G>C (p.Glu315Gln)
c.805G>C (p.Glu269Gln)
c.3367G>C (p.Glu1123Gln)
c.4132G>C (p.Glu1378Gln)
c.4114G>C (p.Glu1372Gln)
c.820G>C (p.Glu274Gln)
c.865G>C (p.Glu289Gln)
c.576G>C
c.829G>C (p.Glu277Gln)
c.*4038G>C (n.*4038G>C)
c.549G>C
c.946G>C (p.Glu316Gln)
c.568G>C (p.Glu190Gln)
c.571G>C (p.Glu191Gln)
c.5-18555G>C (n.5-18555G>C)
c.-43-7985G>C (n.-43-7985G>C)
c.-98-32316G>C (n.-98-32316G>C)
n.149G>C
n.4391G>C
n.4432G>C
 ClinVar dbSNP gnomAD v4
17g.43082506C>TCA10593212BRCA1c.4255G>A (p.Glu1419Lys)
c.4129G>A (p.Glu1377Lys)
c.4249G>A (p.Glu1417Lys)
c.4177G>A (p.Glu1393Lys)
c.943G>A (p.Glu315Lys)
c.805G>A (p.Glu269Lys)
c.3367G>A (p.Glu1123Lys)
c.4132G>A (p.Glu1378Lys)
c.4114G>A (p.Glu1372Lys)
c.820G>A (p.Glu274Lys)
c.865G>A (p.Glu289Lys)
c.576G>A
c.829G>A (p.Glu277Lys)
c.*4038G>A (n.*4038G>A)
c.549G>A
c.946G>A (p.Glu316Lys)
c.568G>A (p.Glu190Lys)
c.571G>A (p.Glu191Lys)
c.5-18555G>A (n.5-18555G>A)
c.-43-7985G>A (n.-43-7985G>A)
c.-98-32316G>A (n.-98-32316G>A)
n.149G>A
n.4391G>A
n.4432G>A
 dbSNP gnomAD v4
17g.43082507T>ACA10593213BRCA1c.4254A>T (p.Leu1418Phe)
c.4128A>T (p.Leu1376Phe)
c.4248A>T (p.Leu1416Phe)
c.4176A>T (p.Leu1392Phe)
c.942A>T (p.Leu314Phe)
c.804A>T (p.Leu268Phe)
c.3366A>T (p.Leu1122Phe)
c.4131A>T (p.Leu1377Phe)
c.4113A>T (p.Leu1371Phe)
c.819A>T (p.Leu273Phe)
c.864A>T (p.Leu288Phe)
c.575A>T
c.828A>T (p.Leu276Phe)
c.*4037A>T (n.*4037A>T)
c.548A>T
c.945A>T (p.Leu315Phe)
c.567A>T (p.Leu189Phe)
c.570A>T (p.Leu190Phe)
c.5-18556A>T (n.5-18556A>T)
c.-43-7986A>T (n.-43-7986A>T)
c.-98-32317A>T (n.-98-32317A>T)
n.148A>T
n.4390A>T
n.4431A>T
 ClinVar dbSNP
17g.43082507T>CCA500148403BRCA1c.4254A>G (p.Leu1418=)
c.4128A>G (p.Leu1376=)
c.4248A>G (p.Leu1416=)
c.4176A>G (p.Leu1392=)
c.942A>G (p.Leu314=)
c.804A>G (p.Leu268=)
c.3366A>G (p.Leu1122=)
c.4131A>G (p.Leu1377=)
c.4113A>G (p.Leu1371=)
c.819A>G (p.Leu273=)
c.864A>G (p.Leu288=)
c.575A>G
c.828A>G (p.Leu276=)
c.*4037A>G (n.*4037A>G)
c.548A>G
c.945A>G (p.Leu315=)
c.567A>G (p.Leu189=)
c.570A>G (p.Leu190=)
c.5-18556A>G (n.5-18556A>G)
c.-43-7986A>G (n.-43-7986A>G)
c.-98-32317A>G (n.-98-32317A>G)
n.148A>G
n.4390A>G
n.4431A>G
 gnomAD v4
17g.43082507T>GCA10593214BRCA1c.4254A>C (p.Leu1418Phe)
c.4128A>C (p.Leu1376Phe)
c.4248A>C (p.Leu1416Phe)
c.4176A>C (p.Leu1392Phe)
c.942A>C (p.Leu314Phe)
c.804A>C (p.Leu268Phe)
c.3366A>C (p.Leu1122Phe)
c.4131A>C (p.Leu1377Phe)
c.4113A>C (p.Leu1371Phe)
c.819A>C (p.Leu273Phe)
c.864A>C (p.Leu288Phe)
c.575A>C
c.828A>C (p.Leu276Phe)
c.*4037A>C (n.*4037A>C)
c.548A>C
c.945A>C (p.Leu315Phe)
c.567A>C (p.Leu189Phe)
c.570A>C (p.Leu190Phe)
c.5-18556A>C (n.5-18556A>C)
c.-43-7986A>C (n.-43-7986A>C)
c.-98-32317A>C (n.-98-32317A>C)
n.148A>C
n.4390A>C
n.4431A>C
17g.43082507T=CA2260778030BRCA1c.4254A= (p.Leu1418=)
c.4128A= (p.Leu1376=)
c.4248A= (p.Leu1416=)
c.4176A= (p.Leu1392=)
c.942A= (p.Leu314=)
c.804A= (p.Leu268=)
c.3366A= (p.Leu1122=)
c.4131A= (p.Leu1377=)
c.4113A= (p.Leu1371=)
c.819A= (p.Leu273=)
c.864A= (p.Leu288=)
c.575A=
c.828A= (p.Leu276=)
c.*4037A= (n.*4037A=)
c.548A=
c.945A= (p.Leu315=)
c.567A= (p.Leu189=)
c.570A= (p.Leu190=)
c.5-18556A= (n.5-18556A=)
c.-43-7986A= (n.-43-7986A=)
c.-98-32317A= (n.-98-32317A=)
n.148A=
n.4390A=
n.4431A=
17g.43082508A=CA2260778032BRCA1c.4253T= (p.Leu1418=)
c.4127T= (p.Leu1376=)
c.4247T= (p.Leu1416=)
c.4175T= (p.Leu1392=)
c.941T= (p.Leu314=)
c.803T= (p.Leu268=)
c.3365T= (p.Leu1122=)
c.4130T= (p.Leu1377=)
c.4112T= (p.Leu1371=)
c.818T= (p.Leu273=)
c.863T= (p.Leu288=)
c.574T=
c.827T= (p.Leu276=)
c.*4036T= (n.*4036T=)
c.547T=
c.944T= (p.Leu315=)
c.566T= (p.Leu189=)
c.569T= (p.Leu190=)
c.5-18557T= (n.5-18557T=)
c.-43-7987T= (n.-43-7987T=)
c.-98-32318T= (n.-98-32318T=)
n.147T=
n.4389T=
n.4430T=
17g.43082508A>CCA002733BRCA1c.4253T>G (p.Leu1418Ter)
c.4127T>G (p.Leu1376Ter)
c.4247T>G (p.Leu1416Ter)
c.4175T>G (p.Leu1392Ter)
c.941T>G (p.Leu314Ter)
c.803T>G (p.Leu268Ter)
c.3365T>G (p.Leu1122Ter)
c.4130T>G (p.Leu1377Ter)
c.4112T>G (p.Leu1371Ter)
c.818T>G (p.Leu273Ter)
c.863T>G (p.Leu288Ter)
c.574T>G
c.827T>G (p.Leu276Ter)
c.*4036T>G (n.*4036T>G)
c.547T>G
c.944T>G (p.Leu315Ter)
c.566T>G (p.Leu189Ter)
c.569T>G (p.Leu190Ter)
c.5-18557T>G (n.5-18557T>G)
c.-43-7987T>G (n.-43-7987T>G)
c.-98-32318T>G (n.-98-32318T>G)
n.147T>G
n.4389T>G
n.4430T>G
 ClinVar dbSNP
17g.43082508A>GCA10584555BRCA1c.4253T>C (p.Leu1418Ser)
c.4127T>C (p.Leu1376Ser)
c.4247T>C (p.Leu1416Ser)
c.4175T>C (p.Leu1392Ser)
c.941T>C (p.Leu314Ser)
c.803T>C (p.Leu268Ser)
c.3365T>C (p.Leu1122Ser)
c.4130T>C (p.Leu1377Ser)
c.4112T>C (p.Leu1371Ser)
c.818T>C (p.Leu273Ser)
c.863T>C (p.Leu288Ser)
c.574T>C
c.827T>C (p.Leu276Ser)
c.*4036T>C (n.*4036T>C)
c.547T>C
c.944T>C (p.Leu315Ser)
c.566T>C (p.Leu189Ser)
c.569T>C (p.Leu190Ser)
c.5-18557T>C (n.5-18557T>C)
c.-43-7987T>C (n.-43-7987T>C)
c.-98-32318T>C (n.-98-32318T>C)
n.147T>C
n.4389T>C
n.4430T>C
 ClinVar dbSNP gnomAD v4
17g.43082508A>TCA10593215BRCA1c.4253T>A (p.Leu1418Ter)
c.4127T>A (p.Leu1376Ter)
c.4247T>A (p.Leu1416Ter)
c.4175T>A (p.Leu1392Ter)
c.941T>A (p.Leu314Ter)
c.803T>A (p.Leu268Ter)
c.3365T>A (p.Leu1122Ter)
c.4130T>A (p.Leu1377Ter)
c.4112T>A (p.Leu1371Ter)
c.818T>A (p.Leu273Ter)
c.863T>A (p.Leu288Ter)
c.574T>A
c.827T>A (p.Leu276Ter)
c.*4036T>A (n.*4036T>A)
c.547T>A
c.944T>A (p.Leu315Ter)
c.566T>A (p.Leu189Ter)
c.569T>A (p.Leu190Ter)
c.5-18557T>A (n.5-18557T>A)
c.-43-7987T>A (n.-43-7987T>A)
c.-98-32318T>A (n.-98-32318T>A)
n.147T>A
n.4389T>A
n.4430T>A
17g.43082509dupCA2580093808BRCA1c.4253dup (p.Leu1418PhefsTer10)
c.4127dup (p.Leu1376PhefsTer10)
c.4247dup (p.Leu1416PhefsTer10)
c.4175dup (p.Leu1392PhefsTer10)
c.941dup (p.Leu314PhefsTer10)
c.803dup (p.Leu268PhefsTer10)
c.3365dup (p.Leu1122PhefsTer10)
c.4130dup (p.Leu1377PhefsTer10)
c.4112dup (p.Leu1371PhefsTer10)
c.818dup (p.Leu273PhefsTer10)
c.863dup (p.Leu288PhefsTer10)
c.574dup
c.827dup (p.Leu276PhefsTer10)
c.*4036dup (n.*4036dup)
c.547dup
c.944dup (p.Leu315PhefsTer10)
c.566dup (p.Leu189PhefsTer10)
c.569dup (p.Leu190PhefsTer10)
c.5-18557dup (n.5-18557dup)
c.-43-7987dup (n.-43-7987dup)
c.-98-32318dup (n.-98-32318dup)
n.147dup
n.4389dup
n.4430dup
 ClinVar
17g.43082509delCA2499224426BRCA1c.4253del (p.Leu1418Ter)
c.4127del (p.Leu1376Ter)
c.4247del (p.Leu1416Ter)
c.4175del (p.Leu1392Ter)
c.941del (p.Leu314Ter)
c.803del (p.Leu268Ter)
c.3365del (p.Leu1122Ter)
c.4130del (p.Leu1377Ter)
c.4112del (p.Leu1371Ter)
c.818del (p.Leu273Ter)
c.863del (p.Leu288Ter)
c.574del
c.827del (p.Leu276Ter)
c.*4036del (n.*4036del)
c.547del
c.944del (p.Leu315Ter)
c.566del (p.Leu189Ter)
c.569del (p.Leu190Ter)
c.5-18557del (n.5-18557del)
c.-43-7987del (n.-43-7987del)
c.-98-32318del (n.-98-32318del)
n.147del
n.4389del
n.4430del
 ClinVar dbSNP
17g.43082508_43082510delinsAACCA2260778031BRCA1c.4251_4253delinsGTT (p.Val1417=)
c.4125_4127delinsGTT (p.Val1375=)
c.4245_4247delinsGTT (p.Val1415=)
c.4173_4175delinsGTT (p.Val1391=)
c.939_941delinsGTT (p.Val313=)
c.801_803delinsGTT (p.Val267=)
c.3363_3365delinsGTT (p.Val1121=)
c.4128_4130delinsGTT (p.Val1376=)
c.4110_4112delinsGTT (p.Val1370=)
c.816_818delinsGTT (p.Val272=)
c.861_863delinsGTT (p.Val287=)
c.572_574delinsGTT
c.825_827delinsGTT (p.Val275=)
c.*4034_*4036delinsGTT (n.*4034_*4036delinsGTT)
c.545_547delinsGTT
c.942_944delinsGTT (p.Val314=)
c.564_566delinsGTT (p.Val188=)
c.567_569delinsGTT (p.Val189=)
c.5-18559_5-18557delinsGTT (n.5-18559_5-18557delinsGTT)
c.-43-7989_-43-7987delinsGTT (n.-43-7989_-43-7987delinsGTT)
c.-98-32320_-98-32318delinsGTT (n.-98-32320_-98-32318delinsGTT)
n.145_147delinsGTT
n.4387_4389delinsGTT
n.4428_4430delinsGTT
17g.43082509A>CCA10593216BRCA1c.4252T>G (p.Leu1418Val)
c.4126T>G (p.Leu1376Val)
c.4246T>G (p.Leu1416Val)
c.4174T>G (p.Leu1392Val)
c.940T>G (p.Leu314Val)
c.802T>G (p.Leu268Val)
c.3364T>G (p.Leu1122Val)
c.4129T>G (p.Leu1377Val)
c.4111T>G (p.Leu1371Val)
c.817T>G (p.Leu273Val)
c.862T>G (p.Leu288Val)
c.573T>G
c.826T>G (p.Leu276Val)
c.*4035T>G (n.*4035T>G)
c.546T>G
c.943T>G (p.Leu315Val)
c.565T>G (p.Leu189Val)
c.568T>G (p.Leu190Val)
c.5-18558T>G (n.5-18558T>G)
c.-43-7988T>G (n.-43-7988T>G)
c.-98-32319T>G (n.-98-32319T>G)
n.146T>G
n.4388T>G
n.4429T>G
 dbSNP
17g.43082509A>GCA500148404BRCA1c.4252T>C (p.Leu1418=)
c.4126T>C (p.Leu1376=)
c.4246T>C (p.Leu1416=)
c.4174T>C (p.Leu1392=)
c.940T>C (p.Leu314=)
c.802T>C (p.Leu268=)
c.3364T>C (p.Leu1122=)
c.4129T>C (p.Leu1377=)
c.4111T>C (p.Leu1371=)
c.817T>C (p.Leu273=)
c.862T>C (p.Leu288=)
c.573T>C
c.826T>C (p.Leu276=)
c.*4035T>C (n.*4035T>C)
c.546T>C
c.943T>C (p.Leu315=)
c.565T>C (p.Leu189=)
c.568T>C (p.Leu190=)
c.5-18558T>C (n.5-18558T>C)
c.-43-7988T>C (n.-43-7988T>C)
c.-98-32319T>C (n.-98-32319T>C)
n.146T>C
n.4388T>C
n.4429T>C
 dbSNP
17g.43082509A>TCA10593217BRCA1c.4252T>A (p.Leu1418Ile)
c.4126T>A (p.Leu1376Ile)
c.4246T>A (p.Leu1416Ile)
c.4174T>A (p.Leu1392Ile)
c.940T>A (p.Leu314Ile)
c.802T>A (p.Leu268Ile)
c.3364T>A (p.Leu1122Ile)
c.4129T>A (p.Leu1377Ile)
c.4111T>A (p.Leu1371Ile)
c.817T>A (p.Leu273Ile)
c.862T>A (p.Leu288Ile)
c.573T>A
c.826T>A (p.Leu276Ile)
c.*4035T>A (n.*4035T>A)
c.546T>A
c.943T>A (p.Leu315Ile)
c.565T>A (p.Leu189Ile)
c.568T>A (p.Leu190Ile)
c.5-18558T>A (n.5-18558T>A)
c.-43-7988T>A (n.-43-7988T>A)
c.-98-32319T>A (n.-98-32319T>A)
n.146T>A
n.4388T>A
n.4429T>A
 dbSNP
17g.43082512_43082513delCA002731BRCA1c.4251_4252del (p.Leu1418ArgfsTer9)
c.4125_4126del (p.Leu1376ArgfsTer9)
c.4245_4246del (p.Leu1416ArgfsTer9)
c.4173_4174del (p.Leu1392ArgfsTer9)
c.939_940del (p.Leu314ArgfsTer9)
c.801_802del (p.Leu268ArgfsTer9)
c.3363_3364del (p.Leu1122ArgfsTer9)
c.4128_4129del (p.Leu1377ArgfsTer9)
c.4110_4111del (p.Leu1371ArgfsTer9)
c.816_817del (p.Leu273ArgfsTer9)
c.861_862del (p.Leu288ArgfsTer9)
c.572_573del
c.825_826del (p.Leu276ArgfsTer9)
c.*4034_*4035del (n.*4034_*4035del)
c.545_546del
c.942_943del (p.Leu315ArgfsTer9)
c.564_565del (p.Leu189ArgfsTer9)
c.567_568del (p.Leu190ArgfsTer9)
c.5-18559_5-18558del (n.5-18559_5-18558del)
c.-43-7989_-43-7988del (n.-43-7989_-43-7988del)
c.-98-32320_-98-32319del (n.-98-32320_-98-32319del)
n.145_146del
n.4387_4388del
n.4428_4429del
 ClinVar dbSNP
17g.43082510C>ACA500148405BRCA1c.4251G>T (p.Val1417=)
c.4125G>T (p.Val1375=)
c.4245G>T (p.Val1415=)
c.4173G>T (p.Val1391=)
c.939G>T (p.Val313=)
c.801G>T (p.Val267=)
c.3363G>T (p.Val1121=)
c.4128G>T (p.Val1376=)
c.4110G>T (p.Val1370=)
c.816G>T (p.Val272=)
c.861G>T (p.Val287=)
c.572G>T
c.825G>T (p.Val275=)
c.*4034G>T (n.*4034G>T)
c.545G>T
c.942G>T (p.Val314=)
c.564G>T (p.Val188=)
c.567G>T (p.Val189=)
c.5-18559G>T (n.5-18559G>T)
c.-43-7989G>T (n.-43-7989G>T)
c.-98-32320G>T (n.-98-32320G>T)
n.145G>T
n.4387G>T
n.4428G>T
17g.43082510C=CA2260778033BRCA1c.4251G= (p.Val1417=)
c.4125G= (p.Val1375=)
c.4245G= (p.Val1415=)
c.4173G= (p.Val1391=)
c.939G= (p.Val313=)
c.801G= (p.Val267=)
c.3363G= (p.Val1121=)
c.4128G= (p.Val1376=)
c.4110G= (p.Val1370=)
c.816G= (p.Val272=)
c.861G= (p.Val287=)
c.572G=
c.825G= (p.Val275=)
c.*4034G= (n.*4034G=)
c.545G=
c.942G= (p.Val314=)
c.564G= (p.Val188=)
c.567G= (p.Val189=)
c.5-18559G= (n.5-18559G=)
c.-43-7989G= (n.-43-7989G=)
c.-98-32320G= (n.-98-32320G=)
n.145G=
n.4387G=
n.4428G=
17g.43082510C>GCA500148406BRCA1c.4251G>C (p.Val1417=)
c.4125G>C (p.Val1375=)
c.4245G>C (p.Val1415=)
c.4173G>C (p.Val1391=)
c.939G>C (p.Val313=)
c.801G>C (p.Val267=)
c.3363G>C (p.Val1121=)
c.4128G>C (p.Val1376=)
c.4110G>C (p.Val1370=)
c.816G>C (p.Val272=)
c.861G>C (p.Val287=)
c.572G>C
c.825G>C (p.Val275=)
c.*4034G>C (n.*4034G>C)
c.545G>C
c.942G>C (p.Val314=)
c.564G>C (p.Val188=)
c.567G>C (p.Val189=)
c.5-18559G>C (n.5-18559G>C)
c.-43-7989G>C (n.-43-7989G>C)
c.-98-32320G>C (n.-98-32320G>C)
n.145G>C
n.4387G>C
n.4428G>C
 dbSNP
17g.43082510C>TCA002732BRCA1c.4251G>A (p.Val1417=)
c.4125G>A (p.Val1375=)
c.4245G>A (p.Val1415=)
c.4173G>A (p.Val1391=)
c.939G>A (p.Val313=)
c.801G>A (p.Val267=)
c.3363G>A (p.Val1121=)
c.4128G>A (p.Val1376=)
c.4110G>A (p.Val1370=)
c.816G>A (p.Val272=)
c.861G>A (p.Val287=)
c.572G>A
c.825G>A (p.Val275=)
c.*4034G>A (n.*4034G>A)
c.545G>A
c.942G>A (p.Val314=)
c.564G>A (p.Val188=)
c.567G>A (p.Val189=)
c.5-18559G>A (n.5-18559G>A)
c.-43-7989G>A (n.-43-7989G>A)
c.-98-32320G>A (n.-98-32320G>A)
n.145G>A
n.4387G>A
n.4428G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082510_43082511delinsCACA2260778034BRCA1c.4250_4251delinsTG (p.Val1417=)
c.4124_4125delinsTG (p.Val1375=)
c.4244_4245delinsTG (p.Val1415=)
c.4172_4173delinsTG (p.Val1391=)
c.938_939delinsTG (p.Val313=)
c.800_801delinsTG (p.Val267=)
c.3362_3363delinsTG (p.Val1121=)
c.4127_4128delinsTG (p.Val1376=)
c.4109_4110delinsTG (p.Val1370=)
c.815_816delinsTG (p.Val272=)
c.860_861delinsTG (p.Val287=)
c.571_572delinsTG
c.824_825delinsTG (p.Val275=)
c.*4033_*4034delinsTG (n.*4033_*4034delinsTG)
c.544_545delinsTG
c.941_942delinsTG (p.Val314=)
c.563_564delinsTG (p.Val188=)
c.566_567delinsTG (p.Val189=)
c.5-18560_5-18559delinsTG (n.5-18560_5-18559delinsTG)
c.-43-7990_-43-7989delinsTG (n.-43-7990_-43-7989delinsTG)
c.-98-32321_-98-32320delinsTG (n.-98-32321_-98-32320delinsTG)
n.144_145delinsTG
n.4386_4387delinsTG
n.4427_4428delinsTG
17g.43082511delCA002730BRCA1c.4250del (p.Val1417GlyfsTer2)
c.4124del (p.Val1375GlyfsTer2)
c.4244del (p.Val1415GlyfsTer2)
c.4172del (p.Val1391GlyfsTer2)
c.938del (p.Val313GlyfsTer2)
c.800del (p.Val267GlyfsTer2)
c.3362del (p.Val1121GlyfsTer2)
c.4127del (p.Val1376GlyfsTer2)
c.4109del (p.Val1370GlyfsTer2)
c.815del (p.Val272GlyfsTer2)
c.860del (p.Val287GlyfsTer2)
c.571del
c.824del (p.Val275GlyfsTer2)
c.*4033del (n.*4033del)
c.544del
c.941del (p.Val314GlyfsTer2)
c.563del (p.Val188GlyfsTer2)
c.566del (p.Val189GlyfsTer2)
c.5-18560del (n.5-18560del)
c.-43-7990del (n.-43-7990del)
c.-98-32321del (n.-98-32321del)
n.144del
n.4386del
n.4427del
 ClinVar dbSNP
17g.43082511A>CCA10593218BRCA1c.4250T>G (p.Val1417Gly)
c.4124T>G (p.Val1375Gly)
c.4244T>G (p.Val1415Gly)
c.4172T>G (p.Val1391Gly)
c.938T>G (p.Val313Gly)
c.800T>G (p.Val267Gly)
c.3362T>G (p.Val1121Gly)
c.4127T>G (p.Val1376Gly)
c.4109T>G (p.Val1370Gly)
c.815T>G (p.Val272Gly)
c.860T>G (p.Val287Gly)
c.571T>G
c.824T>G (p.Val275Gly)
c.*4033T>G (n.*4033T>G)
c.544T>G
c.941T>G (p.Val314Gly)
c.563T>G (p.Val188Gly)
c.566T>G (p.Val189Gly)
c.5-18560T>G (n.5-18560T>G)
c.-43-7990T>G (n.-43-7990T>G)
c.-98-32321T>G (n.-98-32321T>G)
n.144T>G
n.4386T>G
n.4427T>G
 dbSNP
17g.43082511A>GCA10593219BRCA1c.4250T>C (p.Val1417Ala)
c.4124T>C (p.Val1375Ala)
c.4244T>C (p.Val1415Ala)
c.4172T>C (p.Val1391Ala)
c.938T>C (p.Val313Ala)
c.800T>C (p.Val267Ala)
c.3362T>C (p.Val1121Ala)
c.4127T>C (p.Val1376Ala)
c.4109T>C (p.Val1370Ala)
c.815T>C (p.Val272Ala)
c.860T>C (p.Val287Ala)
c.571T>C
c.824T>C (p.Val275Ala)
c.*4033T>C (n.*4033T>C)
c.544T>C
c.941T>C (p.Val314Ala)
c.563T>C (p.Val188Ala)
c.566T>C (p.Val189Ala)
c.5-18560T>C (n.5-18560T>C)
c.-43-7990T>C (n.-43-7990T>C)
c.-98-32321T>C (n.-98-32321T>C)
n.144T>C
n.4386T>C
n.4427T>C
 dbSNP
17g.43082511A>TCA10593220BRCA1c.4250T>A (p.Val1417Glu)
c.4124T>A (p.Val1375Glu)
c.4244T>A (p.Val1415Glu)
c.4172T>A (p.Val1391Glu)
c.938T>A (p.Val313Glu)
c.800T>A (p.Val267Glu)
c.3362T>A (p.Val1121Glu)
c.4127T>A (p.Val1376Glu)
c.4109T>A (p.Val1370Glu)
c.815T>A (p.Val272Glu)
c.860T>A (p.Val287Glu)
c.571T>A
c.824T>A (p.Val275Glu)
c.*4033T>A (n.*4033T>A)
c.544T>A
c.941T>A (p.Val314Glu)
c.563T>A (p.Val188Glu)
c.566T>A (p.Val189Glu)
c.5-18560T>A (n.5-18560T>A)
c.-43-7990T>A (n.-43-7990T>A)
c.-98-32321T>A (n.-98-32321T>A)
n.144T>A
n.4386T>A
n.4427T>A
 dbSNP
17g.43082512C>ACA10593221BRCA1c.4249G>T (p.Val1417Leu)
c.4123G>T (p.Val1375Leu)
c.4243G>T (p.Val1415Leu)
c.4171G>T (p.Val1391Leu)
c.937G>T (p.Val313Leu)
c.799G>T (p.Val267Leu)
c.3361G>T (p.Val1121Leu)
c.4126G>T (p.Val1376Leu)
c.4108G>T (p.Val1370Leu)
c.814G>T (p.Val272Leu)
c.859G>T (p.Val287Leu)
c.570G>T
c.823G>T (p.Val275Leu)
c.*4032G>T (n.*4032G>T)
c.543G>T
c.940G>T (p.Val314Leu)
c.562G>T (p.Val188Leu)
c.565G>T (p.Val189Leu)
c.5-18561G>T (n.5-18561G>T)
c.-43-7991G>T (n.-43-7991G>T)
c.-98-32322G>T (n.-98-32322G>T)
n.143G>T
n.4385G>T
n.4426G>T
 ClinVar dbSNP
17g.43082512C=CA2260778035BRCA1c.4249G= (p.Val1417=)
c.4123G= (p.Val1375=)
c.4243G= (p.Val1415=)
c.4171G= (p.Val1391=)
c.937G= (p.Val313=)
c.799G= (p.Val267=)
c.3361G= (p.Val1121=)
c.4126G= (p.Val1376=)
c.4108G= (p.Val1370=)
c.814G= (p.Val272=)
c.859G= (p.Val287=)
c.570G=
c.823G= (p.Val275=)
c.*4032G= (n.*4032G=)
c.543G=
c.940G= (p.Val314=)
c.562G= (p.Val188=)
c.565G= (p.Val189=)
c.5-18561G= (n.5-18561G=)
c.-43-7991G= (n.-43-7991G=)
c.-98-32322G= (n.-98-32322G=)
n.143G=
n.4385G=
n.4426G=
17g.43082512C>GCA10593222BRCA1c.4249G>C (p.Val1417Leu)
c.4123G>C (p.Val1375Leu)
c.4243G>C (p.Val1415Leu)
c.4171G>C (p.Val1391Leu)
c.937G>C (p.Val313Leu)
c.799G>C (p.Val267Leu)
c.3361G>C (p.Val1121Leu)
c.4126G>C (p.Val1376Leu)
c.4108G>C (p.Val1370Leu)
c.814G>C (p.Val272Leu)
c.859G>C (p.Val287Leu)
c.570G>C
c.823G>C (p.Val275Leu)
c.*4032G>C (n.*4032G>C)
c.543G>C
c.940G>C (p.Val314Leu)
c.562G>C (p.Val188Leu)
c.565G>C (p.Val189Leu)
c.5-18561G>C (n.5-18561G>C)
c.-43-7991G>C (n.-43-7991G>C)
c.-98-32322G>C (n.-98-32322G>C)
n.143G>C
n.4385G>C
n.4426G>C
 dbSNP
17g.43082512C>TCA10593223BRCA1c.4249G>A (p.Val1417Met)
c.4123G>A (p.Val1375Met)
c.4243G>A (p.Val1415Met)
c.4171G>A (p.Val1391Met)
c.937G>A (p.Val313Met)
c.799G>A (p.Val267Met)
c.3361G>A (p.Val1121Met)
c.4126G>A (p.Val1376Met)
c.4108G>A (p.Val1370Met)
c.814G>A (p.Val272Met)
c.859G>A (p.Val287Met)
c.570G>A
c.823G>A (p.Val275Met)
c.*4032G>A (n.*4032G>A)
c.543G>A
c.940G>A (p.Val314Met)
c.562G>A (p.Val188Met)
c.565G>A (p.Val189Met)
c.5-18561G>A (n.5-18561G>A)
c.-43-7991G>A (n.-43-7991G>A)
c.-98-32322G>A (n.-98-32322G>A)
n.143G>A
n.4385G>A
n.4426G>A
 ClinVar dbSNP
17g.43082513A>CCA500148407BRCA1c.4248T>G (p.Ala1416=)
c.4122T>G (p.Ala1374=)
c.4242T>G (p.Ala1414=)
c.4170T>G (p.Ala1390=)
c.936T>G (p.Ala312=)
c.798T>G (p.Ala266=)
c.3360T>G (p.Ala1120=)
c.4125T>G (p.Ala1375=)
c.4107T>G (p.Ala1369=)
c.813T>G (p.Ala271=)
c.858T>G (p.Ala286=)
c.569T>G
c.822T>G (p.Ala274=)
c.*4031T>G (n.*4031T>G)
c.542T>G
c.939T>G (p.Ala313=)
c.561T>G (p.Ala187=)
c.564T>G (p.Ala188=)
c.5-18562T>G (n.5-18562T>G)
c.-43-7992T>G (n.-43-7992T>G)
c.-98-32323T>G (n.-98-32323T>G)
n.142T>G
n.4384T>G
n.4425T>G
17g.43082513A>GCA500148408BRCA1c.4248T>C (p.Ala1416=)
c.4122T>C (p.Ala1374=)
c.4242T>C (p.Ala1414=)
c.4170T>C (p.Ala1390=)
c.936T>C (p.Ala312=)
c.798T>C (p.Ala266=)
c.3360T>C (p.Ala1120=)
c.4125T>C (p.Ala1375=)
c.4107T>C (p.Ala1369=)
c.813T>C (p.Ala271=)
c.858T>C (p.Ala286=)
c.569T>C
c.822T>C (p.Ala274=)
c.*4031T>C (n.*4031T>C)
c.542T>C
c.939T>C (p.Ala313=)
c.561T>C (p.Ala187=)
c.564T>C (p.Ala188=)
c.5-18562T>C (n.5-18562T>C)
c.-43-7992T>C (n.-43-7992T>C)
c.-98-32323T>C (n.-98-32323T>C)
n.142T>C
n.4384T>C
n.4425T>C
 ClinVar dbSNP
17g.43082513A>TCA500148409BRCA1c.4248T>A (p.Ala1416=)
c.4122T>A (p.Ala1374=)
c.4242T>A (p.Ala1414=)
c.4170T>A (p.Ala1390=)
c.936T>A (p.Ala312=)
c.798T>A (p.Ala266=)
c.3360T>A (p.Ala1120=)
c.4125T>A (p.Ala1375=)
c.4107T>A (p.Ala1369=)
c.813T>A (p.Ala271=)
c.858T>A (p.Ala286=)
c.569T>A
c.822T>A (p.Ala274=)
c.*4031T>A (n.*4031T>A)
c.542T>A
c.939T>A (p.Ala313=)
c.561T>A (p.Ala187=)
c.564T>A (p.Ala188=)
c.5-18562T>A (n.5-18562T>A)
c.-43-7992T>A (n.-43-7992T>A)
c.-98-32323T>A (n.-98-32323T>A)
n.142T>A
n.4384T>A
n.4425T>A
 dbSNP
17g.43082514G>ACA10593224BRCA1c.4247C>T (p.Ala1416Val)
c.4121C>T (p.Ala1374Val)
c.4241C>T (p.Ala1414Val)
c.4169C>T (p.Ala1390Val)
c.935C>T (p.Ala312Val)
c.797C>T (p.Ala266Val)
c.3359C>T (p.Ala1120Val)
c.4124C>T (p.Ala1375Val)
c.4106C>T (p.Ala1369Val)
c.812C>T (p.Ala271Val)
c.857C>T (p.Ala286Val)
c.568C>T
c.821C>T (p.Ala274Val)
c.*4030C>T (n.*4030C>T)
c.541C>T
c.938C>T (p.Ala313Val)
c.560C>T (p.Ala187Val)
c.563C>T (p.Ala188Val)
c.5-18563C>T (n.5-18563C>T)
c.-43-7993C>T (n.-43-7993C>T)
c.-98-32324C>T (n.-98-32324C>T)
n.141C>T
n.4383C>T
n.4424C>T
 dbSNP
17g.43082514G>CCA10593225BRCA1c.4247C>G (p.Ala1416Gly)
c.4121C>G (p.Ala1374Gly)
c.4241C>G (p.Ala1414Gly)
c.4169C>G (p.Ala1390Gly)
c.935C>G (p.Ala312Gly)
c.797C>G (p.Ala266Gly)
c.3359C>G (p.Ala1120Gly)
c.4124C>G (p.Ala1375Gly)
c.4106C>G (p.Ala1369Gly)
c.812C>G (p.Ala271Gly)
c.857C>G (p.Ala286Gly)
c.568C>G
c.821C>G (p.Ala274Gly)
c.*4030C>G (n.*4030C>G)
c.541C>G
c.938C>G (p.Ala313Gly)
c.560C>G (p.Ala187Gly)
c.563C>G (p.Ala188Gly)
c.5-18563C>G (n.5-18563C>G)
c.-43-7993C>G (n.-43-7993C>G)
c.-98-32324C>G (n.-98-32324C>G)
n.141C>G
n.4383C>G
n.4424C>G
 ClinVar dbSNP
17g.43082514G=CA2260778036BRCA1c.4247C= (p.Ala1416=)
c.4121C= (p.Ala1374=)
c.4241C= (p.Ala1414=)
c.4169C= (p.Ala1390=)
c.935C= (p.Ala312=)
c.797C= (p.Ala266=)
c.3359C= (p.Ala1120=)
c.4124C= (p.Ala1375=)
c.4106C= (p.Ala1369=)
c.812C= (p.Ala271=)
c.857C= (p.Ala286=)
c.568C=
c.821C= (p.Ala274=)
c.*4030C= (n.*4030C=)
c.541C=
c.938C= (p.Ala313=)
c.560C= (p.Ala187=)
c.563C= (p.Ala188=)
c.5-18563C= (n.5-18563C=)
c.-43-7993C= (n.-43-7993C=)
c.-98-32324C= (n.-98-32324C=)
n.141C=
n.4383C=
n.4424C=
17g.43082514G>TCA10593226BRCA1c.4247C>A (p.Ala1416Asp)
c.4121C>A (p.Ala1374Asp)
c.4241C>A (p.Ala1414Asp)
c.4169C>A (p.Ala1390Asp)
c.935C>A (p.Ala312Asp)
c.797C>A (p.Ala266Asp)
c.3359C>A (p.Ala1120Asp)
c.4124C>A (p.Ala1375Asp)
c.4106C>A (p.Ala1369Asp)
c.812C>A (p.Ala271Asp)
c.857C>A (p.Ala286Asp)
c.568C>A
c.821C>A (p.Ala274Asp)
c.*4030C>A (n.*4030C>A)
c.541C>A
c.938C>A (p.Ala313Asp)
c.560C>A (p.Ala187Asp)
c.563C>A (p.Ala188Asp)
c.5-18563C>A (n.5-18563C>A)
c.-43-7993C>A (n.-43-7993C>A)
c.-98-32324C>A (n.-98-32324C>A)
n.141C>A
n.4383C>A
n.4424C>A
17g.43082515C>ACA10593227BRCA1c.4246G>T (p.Ala1416Ser)
c.4120G>T (p.Ala1374Ser)
c.4240G>T (p.Ala1414Ser)
c.4168G>T (p.Ala1390Ser)
c.934G>T (p.Ala312Ser)
c.796G>T (p.Ala266Ser)
c.3358G>T (p.Ala1120Ser)
c.4123G>T (p.Ala1375Ser)
c.4105G>T (p.Ala1369Ser)
c.811G>T (p.Ala271Ser)
c.856G>T (p.Ala286Ser)
c.567G>T
c.820G>T (p.Ala274Ser)
c.*4029G>T (n.*4029G>T)
c.540G>T
c.937G>T (p.Ala313Ser)
c.559G>T (p.Ala187Ser)
c.562G>T (p.Ala188Ser)
c.5-18564G>T (n.5-18564G>T)
c.-43-7994G>T (n.-43-7994G>T)
c.-98-32325G>T (n.-98-32325G>T)
n.140G>T
n.4382G>T
n.4423G>T
 dbSNP
17g.43082515C=CA2260778037BRCA1c.4246G= (p.Ala1416=)
c.4120G= (p.Ala1374=)
c.4240G= (p.Ala1414=)
c.4168G= (p.Ala1390=)
c.934G= (p.Ala312=)
c.796G= (p.Ala266=)
c.3358G= (p.Ala1120=)
c.4123G= (p.Ala1375=)
c.4105G= (p.Ala1369=)
c.811G= (p.Ala271=)
c.856G= (p.Ala286=)
c.567G=
c.820G= (p.Ala274=)
c.*4029G= (n.*4029G=)
c.540G=
c.937G= (p.Ala313=)
c.559G= (p.Ala187=)
c.562G= (p.Ala188=)
c.5-18564G= (n.5-18564G=)
c.-43-7994G= (n.-43-7994G=)
c.-98-32325G= (n.-98-32325G=)
n.140G=
n.4382G=
n.4423G=
17g.43082515C>GCA10593228BRCA1c.4246G>C (p.Ala1416Pro)
c.4120G>C (p.Ala1374Pro)
c.4240G>C (p.Ala1414Pro)
c.4168G>C (p.Ala1390Pro)
c.934G>C (p.Ala312Pro)
c.796G>C (p.Ala266Pro)
c.3358G>C (p.Ala1120Pro)
c.4123G>C (p.Ala1375Pro)
c.4105G>C (p.Ala1369Pro)
c.811G>C (p.Ala271Pro)
c.856G>C (p.Ala286Pro)
c.567G>C
c.820G>C (p.Ala274Pro)
c.*4029G>C (n.*4029G>C)
c.540G>C
c.937G>C (p.Ala313Pro)
c.559G>C (p.Ala187Pro)
c.562G>C (p.Ala188Pro)
c.5-18564G>C (n.5-18564G>C)
c.-43-7994G>C (n.-43-7994G>C)
c.-98-32325G>C (n.-98-32325G>C)
n.140G>C
n.4382G>C
n.4423G>C
 dbSNP
17g.43082515C>TCA10593229BRCA1c.4246G>A (p.Ala1416Thr)
c.4120G>A (p.Ala1374Thr)
c.4240G>A (p.Ala1414Thr)
c.4168G>A (p.Ala1390Thr)
c.934G>A (p.Ala312Thr)
c.796G>A (p.Ala266Thr)
c.3358G>A (p.Ala1120Thr)
c.4123G>A (p.Ala1375Thr)
c.4105G>A (p.Ala1369Thr)
c.811G>A (p.Ala271Thr)
c.856G>A (p.Ala286Thr)
c.567G>A
c.820G>A (p.Ala274Thr)
c.*4029G>A (n.*4029G>A)
c.540G>A
c.937G>A (p.Ala313Thr)
c.559G>A (p.Ala187Thr)
c.562G>A (p.Ala188Thr)
c.5-18564G>A (n.5-18564G>A)
c.-43-7994G>A (n.-43-7994G>A)
c.-98-32325G>A (n.-98-32325G>A)
n.140G>A
n.4382G>A
n.4423G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082516T>ACA10593230BRCA1c.4245A>T (p.Glu1415Asp)
c.4119A>T (p.Glu1373Asp)
c.4239A>T (p.Glu1413Asp)
c.4167A>T (p.Glu1389Asp)
c.933A>T (p.Glu311Asp)
c.795A>T (p.Glu265Asp)
c.3357A>T (p.Glu1119Asp)
c.4122A>T (p.Glu1374Asp)
c.4104A>T (p.Glu1368Asp)
c.810A>T (p.Glu270Asp)
c.855A>T (p.Glu285Asp)
c.566A>T
c.819A>T (p.Glu273Asp)
c.*4028A>T (n.*4028A>T)
c.539A>T
c.936A>T (p.Glu312Asp)
c.558A>T (p.Glu186Asp)
c.561A>T (p.Glu187Asp)
c.5-18565A>T (n.5-18565A>T)
c.-43-7995A>T (n.-43-7995A>T)
c.-98-32326A>T (n.-98-32326A>T)
n.139A>T
n.4381A>T
n.4422A>T
 dbSNP
17g.43082516T>CCA002728BRCA1c.4245A>G (p.Glu1415=)
c.4119A>G (p.Glu1373=)
c.4239A>G (p.Glu1413=)
c.4167A>G (p.Glu1389=)
c.933A>G (p.Glu311=)
c.795A>G (p.Glu265=)
c.3357A>G (p.Glu1119=)
c.4122A>G (p.Glu1374=)
c.4104A>G (p.Glu1368=)
c.810A>G (p.Glu270=)
c.855A>G (p.Glu285=)
c.566A>G
c.819A>G (p.Glu273=)
c.*4028A>G (n.*4028A>G)
c.539A>G
c.936A>G (p.Glu312=)
c.558A>G (p.Glu186=)
c.561A>G (p.Glu187=)
c.5-18565A>G (n.5-18565A>G)
c.-43-7995A>G (n.-43-7995A>G)
c.-98-32326A>G (n.-98-32326A>G)
n.139A>G
n.4381A>G
n.4422A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082516T>GCA10593231BRCA1c.4245A>C (p.Glu1415Asp)
c.4119A>C (p.Glu1373Asp)
c.4239A>C (p.Glu1413Asp)
c.4167A>C (p.Glu1389Asp)
c.933A>C (p.Glu311Asp)
c.795A>C (p.Glu265Asp)
c.3357A>C (p.Glu1119Asp)
c.4122A>C (p.Glu1374Asp)
c.4104A>C (p.Glu1368Asp)
c.810A>C (p.Glu270Asp)
c.855A>C (p.Glu285Asp)
c.566A>C
c.819A>C (p.Glu273Asp)
c.*4028A>C (n.*4028A>C)
c.539A>C
c.936A>C (p.Glu312Asp)
c.558A>C (p.Glu186Asp)
c.561A>C (p.Glu187Asp)
c.5-18565A>C (n.5-18565A>C)
c.-43-7995A>C (n.-43-7995A>C)
c.-98-32326A>C (n.-98-32326A>C)
n.139A>C
n.4381A>C
n.4422A>C
17g.43082516T=CA2260778038BRCA1c.4245A= (p.Glu1415=)
c.4119A= (p.Glu1373=)
c.4239A= (p.Glu1413=)
c.4167A= (p.Glu1389=)
c.933A= (p.Glu311=)
c.795A= (p.Glu265=)
c.3357A= (p.Glu1119=)
c.4122A= (p.Glu1374=)
c.4104A= (p.Glu1368=)
c.810A= (p.Glu270=)
c.855A= (p.Glu285=)
c.566A=
c.819A= (p.Glu273=)
c.*4028A= (n.*4028A=)
c.539A=
c.936A= (p.Glu312=)
c.558A= (p.Glu186=)
c.561A= (p.Glu187=)
c.5-18565A= (n.5-18565A=)
c.-43-7995A= (n.-43-7995A=)
c.-98-32326A= (n.-98-32326A=)
n.139A=
n.4381A=
n.4422A=
17g.43082517T>ACA10593232BRCA1c.4244A>T (p.Glu1415Val)
c.4118A>T (p.Glu1373Val)
c.4238A>T (p.Glu1413Val)
c.4166A>T (p.Glu1389Val)
c.932A>T (p.Glu311Val)
c.794A>T (p.Glu265Val)
c.3356A>T (p.Glu1119Val)
c.4121A>T (p.Glu1374Val)
c.4103A>T (p.Glu1368Val)
c.809A>T (p.Glu270Val)
c.854A>T (p.Glu285Val)
c.565A>T
c.818A>T (p.Glu273Val)
c.*4027A>T (n.*4027A>T)
c.538A>T
c.935A>T (p.Glu312Val)
c.557A>T (p.Glu186Val)
c.560A>T (p.Glu187Val)
c.5-18566A>T (n.5-18566A>T)
c.-43-7996A>T (n.-43-7996A>T)
c.-98-32327A>T (n.-98-32327A>T)
n.138A>T
n.4380A>T
n.4421A>T
17g.43082517T>CCA10593233BRCA1c.4244A>G (p.Glu1415Gly)
c.4118A>G (p.Glu1373Gly)
c.4238A>G (p.Glu1413Gly)
c.4166A>G (p.Glu1389Gly)
c.932A>G (p.Glu311Gly)
c.794A>G (p.Glu265Gly)
c.3356A>G (p.Glu1119Gly)
c.4121A>G (p.Glu1374Gly)
c.4103A>G (p.Glu1368Gly)
c.809A>G (p.Glu270Gly)
c.854A>G (p.Glu285Gly)
c.565A>G
c.818A>G (p.Glu273Gly)
c.*4027A>G (n.*4027A>G)
c.538A>G
c.935A>G (p.Glu312Gly)
c.557A>G (p.Glu186Gly)
c.560A>G (p.Glu187Gly)
c.5-18566A>G (n.5-18566A>G)
c.-43-7996A>G (n.-43-7996A>G)
c.-98-32327A>G (n.-98-32327A>G)
n.138A>G
n.4380A>G
n.4421A>G
17g.43082517T>GCA10593234BRCA1c.4244A>C (p.Glu1415Ala)
c.4118A>C (p.Glu1373Ala)
c.4238A>C (p.Glu1413Ala)
c.4166A>C (p.Glu1389Ala)
c.932A>C (p.Glu311Ala)
c.794A>C (p.Glu265Ala)
c.3356A>C (p.Glu1119Ala)
c.4121A>C (p.Glu1374Ala)
c.4103A>C (p.Glu1368Ala)
c.809A>C (p.Glu270Ala)
c.854A>C (p.Glu285Ala)
c.565A>C
c.818A>C (p.Glu273Ala)
c.*4027A>C (n.*4027A>C)
c.538A>C
c.935A>C (p.Glu312Ala)
c.557A>C (p.Glu186Ala)
c.560A>C (p.Glu187Ala)
c.5-18566A>C (n.5-18566A>C)
c.-43-7996A>C (n.-43-7996A>C)
c.-98-32327A>C (n.-98-32327A>C)
n.138A>C
n.4380A>C
n.4421A>C
17g.43082517T=CA2260778040BRCA1c.4244A= (p.Glu1415=)
c.4118A= (p.Glu1373=)
c.4238A= (p.Glu1413=)
c.4166A= (p.Glu1389=)
c.932A= (p.Glu311=)
c.794A= (p.Glu265=)
c.3356A= (p.Glu1119=)
c.4121A= (p.Glu1374=)
c.4103A= (p.Glu1368=)
c.809A= (p.Glu270=)
c.854A= (p.Glu285=)
c.565A=
c.818A= (p.Glu273=)
c.*4027A= (n.*4027A=)
c.538A=
c.935A= (p.Glu312=)
c.557A= (p.Glu186=)
c.560A= (p.Glu187=)
c.5-18566A= (n.5-18566A=)
c.-43-7996A= (n.-43-7996A=)
c.-98-32327A= (n.-98-32327A=)
n.138A=
n.4380A=
n.4421A=
17g.43082517_43082518delinsTCCA2260778039BRCA1c.4243_4244delinsGA (p.Glu1415=)
c.4117_4118delinsGA (p.Glu1373=)
c.4237_4238delinsGA (p.Glu1413=)
c.4165_4166delinsGA (p.Glu1389=)
c.931_932delinsGA (p.Glu311=)
c.793_794delinsGA (p.Glu265=)
c.3355_3356delinsGA (p.Glu1119=)
c.4120_4121delinsGA (p.Glu1374=)
c.4102_4103delinsGA (p.Glu1368=)
c.808_809delinsGA (p.Glu270=)
c.853_854delinsGA (p.Glu285=)
c.564_565delinsGA
c.817_818delinsGA (p.Glu273=)
c.*4026_*4027delinsGA (n.*4026_*4027delinsGA)
c.537_538delinsGA
c.934_935delinsGA (p.Glu312=)
c.556_557delinsGA (p.Glu186=)
c.559_560delinsGA (p.Glu187=)
c.5-18567_5-18566delinsGA (n.5-18567_5-18566delinsGA)
c.-43-7997_-43-7996delinsGA (n.-43-7997_-43-7996delinsGA)
c.-98-32328_-98-32327delinsGA (n.-98-32328_-98-32327delinsGA)
n.137_138delinsGA
n.4379_4380delinsGA
n.4420_4421delinsGA
17g.43082517_43082518insACA658825021BRCA1c.4243_4244insT (p.Glu1415ValfsTer13)
c.4117_4118insT (p.Glu1373ValfsTer13)
c.4237_4238insT (p.Glu1413ValfsTer13)
c.4165_4166insT (p.Glu1389ValfsTer13)
c.931_932insT (p.Glu311ValfsTer13)
c.793_794insT (p.Glu265ValfsTer13)
c.3355_3356insT (p.Glu1119ValfsTer13)
c.4120_4121insT (p.Glu1374ValfsTer13)
c.4102_4103insT (p.Glu1368ValfsTer13)
c.808_809insT (p.Glu270ValfsTer13)
c.853_854insT (p.Glu285ValfsTer13)
c.564_565insT
c.817_818insT (p.Glu273ValfsTer13)
c.*4026_*4027insT (n.*4026_*4027insT)
c.537_538insT
c.934_935insT (p.Glu312ValfsTer13)
c.556_557insT (p.Glu186ValfsTer13)
c.559_560insT (p.Glu187ValfsTer13)
c.5-18567_5-18566insT (n.5-18567_5-18566insT)
c.-43-7997_-43-7996insT (n.-43-7997_-43-7996insT)
c.-98-32328_-98-32327insT (n.-98-32328_-98-32327insT)
n.137_138insT
n.4379_4380insT
n.4420_4421insT
 ClinVar dbSNP
17g.43082518delCA002727BRCA1c.4243del (p.Glu1415LysfsTer4)
c.4117del (p.Glu1373LysfsTer4)
c.4237del (p.Glu1413LysfsTer4)
c.4165del (p.Glu1389LysfsTer4)
c.931del (p.Glu311LysfsTer4)
c.793del (p.Glu265LysfsTer4)
c.3355del (p.Glu1119LysfsTer4)
c.4120del (p.Glu1374LysfsTer4)
c.4102del (p.Glu1368LysfsTer4)
c.808del (p.Glu270LysfsTer4)
c.853del (p.Glu285LysfsTer4)
c.564del
c.817del (p.Glu273LysfsTer4)
c.*4026del (n.*4026del)
c.537del
c.934del (p.Glu312LysfsTer4)
c.556del (p.Glu186LysfsTer4)
c.559del (p.Glu187LysfsTer4)
c.5-18567del (n.5-18567del)
c.-43-7997del (n.-43-7997del)
c.-98-32328del (n.-98-32328del)
n.137del
n.4379del
n.4420del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082518C>ACA10593235BRCA1c.4243G>T (p.Glu1415Ter)
c.4117G>T (p.Glu1373Ter)
c.4237G>T (p.Glu1413Ter)
c.4165G>T (p.Glu1389Ter)
c.931G>T (p.Glu311Ter)
c.793G>T (p.Glu265Ter)
c.3355G>T (p.Glu1119Ter)
c.4120G>T (p.Glu1374Ter)
c.4102G>T (p.Glu1368Ter)
c.808G>T (p.Glu270Ter)
c.853G>T (p.Glu285Ter)
c.564G>T
c.817G>T (p.Glu273Ter)
c.*4026G>T (n.*4026G>T)
c.537G>T
c.934G>T (p.Glu312Ter)
c.556G>T (p.Glu186Ter)
c.559G>T (p.Glu187Ter)
c.5-18567G>T (n.5-18567G>T)
c.-43-7997G>T (n.-43-7997G>T)
c.-98-32328G>T (n.-98-32328G>T)
n.137G>T
n.4379G>T
n.4420G>T
 ClinVar dbSNP
17g.43082518C=CA2260778041BRCA1c.4243G= (p.Glu1415=)
c.4117G= (p.Glu1373=)
c.4237G= (p.Glu1413=)
c.4165G= (p.Glu1389=)
c.931G= (p.Glu311=)
c.793G= (p.Glu265=)
c.3355G= (p.Glu1119=)
c.4120G= (p.Glu1374=)
c.4102G= (p.Glu1368=)
c.808G= (p.Glu270=)
c.853G= (p.Glu285=)
c.564G=
c.817G= (p.Glu273=)
c.*4026G= (n.*4026G=)
c.537G=
c.934G= (p.Glu312=)
c.556G= (p.Glu186=)
c.559G= (p.Glu187=)
c.5-18567G= (n.5-18567G=)
c.-43-7997G= (n.-43-7997G=)
c.-98-32328G= (n.-98-32328G=)
n.137G=
n.4379G=
n.4420G=
17g.43082518C>GCA10593236BRCA1c.4243G>C (p.Glu1415Gln)
c.4117G>C (p.Glu1373Gln)
c.4237G>C (p.Glu1413Gln)
c.4165G>C (p.Glu1389Gln)
c.931G>C (p.Glu311Gln)
c.793G>C (p.Glu265Gln)
c.3355G>C (p.Glu1119Gln)
c.4120G>C (p.Glu1374Gln)
c.4102G>C (p.Glu1368Gln)
c.808G>C (p.Glu270Gln)
c.853G>C (p.Glu285Gln)
c.564G>C
c.817G>C (p.Glu273Gln)
c.*4026G>C (n.*4026G>C)
c.537G>C
c.934G>C (p.Glu312Gln)
c.556G>C (p.Glu186Gln)
c.559G>C (p.Glu187Gln)
c.5-18567G>C (n.5-18567G>C)
c.-43-7997G>C (n.-43-7997G>C)
c.-98-32328G>C (n.-98-32328G>C)
n.137G>C
n.4379G>C
n.4420G>C
 ClinVar dbSNP
17g.43082518C>TCA10593237BRCA1c.4243G>A (p.Glu1415Lys)
c.4117G>A (p.Glu1373Lys)
c.4237G>A (p.Glu1413Lys)
c.4165G>A (p.Glu1389Lys)
c.931G>A (p.Glu311Lys)
c.793G>A (p.Glu265Lys)
c.3355G>A (p.Glu1119Lys)
c.4120G>A (p.Glu1374Lys)
c.4102G>A (p.Glu1368Lys)
c.808G>A (p.Glu270Lys)
c.853G>A (p.Glu285Lys)
c.564G>A
c.817G>A (p.Glu273Lys)
c.*4026G>A (n.*4026G>A)
c.537G>A
c.934G>A (p.Glu312Lys)
c.556G>A (p.Glu186Lys)
c.559G>A (p.Glu187Lys)
c.5-18567G>A (n.5-18567G>A)
c.-43-7997G>A (n.-43-7997G>A)
c.-98-32328G>A (n.-98-32328G>A)
n.137G>A
n.4379G>A
n.4420G>A
 ClinVar dbSNP gnomAD v4
17g.43082518_43082519insACA002726BRCA1c.4242_4243insT (p.Glu1415Ter)
c.4116_4117insT (p.Glu1373Ter)
c.4236_4237insT (p.Glu1413Ter)
c.4164_4165insT (p.Glu1389Ter)
c.930_931insT (p.Glu311Ter)
c.792_793insT (p.Glu265Ter)
c.3354_3355insT (p.Glu1119Ter)
c.4119_4120insT (p.Glu1374Ter)
c.4101_4102insT (p.Glu1368Ter)
c.807_808insT (p.Glu270Ter)
c.852_853insT (p.Glu285Ter)
c.563_564insT
c.816_817insT (p.Glu273Ter)
c.*4025_*4026insT (n.*4025_*4026insT)
c.536_537insT
c.933_934insT (p.Glu312Ter)
c.555_556insT (p.Glu186Ter)
c.558_559insT (p.Glu187Ter)
c.5-18568_5-18567insT (n.5-18568_5-18567insT)
c.-43-7998_-43-7997insT (n.-43-7998_-43-7997insT)
c.-98-32329_-98-32328insT (n.-98-32329_-98-32328insT)
n.136_137insT
n.4378_4379insT
n.4419_4420insT
 ClinVar dbSNP
17g.43082519T>ACA500148410BRCA1c.4242A>T (p.Leu1414=)
c.4116A>T (p.Leu1372=)
c.4236A>T (p.Leu1412=)
c.4164A>T (p.Leu1388=)
c.930A>T (p.Leu310=)
c.792A>T (p.Leu264=)
c.3354A>T (p.Leu1118=)
c.4119A>T (p.Leu1373=)
c.4101A>T (p.Leu1367=)
c.807A>T (p.Leu269=)
c.852A>T (p.Leu284=)
c.563A>T
c.816A>T (p.Leu272=)
c.*4025A>T (n.*4025A>T)
c.536A>T
c.933A>T (p.Leu311=)
c.555A>T (p.Leu185=)
c.558A>T (p.Leu186=)
c.5-18568A>T (n.5-18568A>T)
c.-43-7998A>T (n.-43-7998A>T)
c.-98-32329A>T (n.-98-32329A>T)
n.136A>T
n.4378A>T
n.4419A>T
 dbSNP
17g.43082519T>CCA16607260BRCA1c.4242A>G (p.Leu1414=)
c.4116A>G (p.Leu1372=)
c.4236A>G (p.Leu1412=)
c.4164A>G (p.Leu1388=)
c.930A>G (p.Leu310=)
c.792A>G (p.Leu264=)
c.3354A>G (p.Leu1118=)
c.4119A>G (p.Leu1373=)
c.4101A>G (p.Leu1367=)
c.807A>G (p.Leu269=)
c.852A>G (p.Leu284=)
c.563A>G
c.816A>G (p.Leu272=)
c.*4025A>G (n.*4025A>G)
c.536A>G
c.933A>G (p.Leu311=)
c.555A>G (p.Leu185=)
c.558A>G (p.Leu186=)
c.5-18568A>G (n.5-18568A>G)
c.-43-7998A>G (n.-43-7998A>G)
c.-98-32329A>G (n.-98-32329A>G)
n.136A>G
n.4378A>G
n.4419A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082519T>GCA500148411BRCA1c.4242A>C (p.Leu1414=)
c.4116A>C (p.Leu1372=)
c.4236A>C (p.Leu1412=)
c.4164A>C (p.Leu1388=)
c.930A>C (p.Leu310=)
c.792A>C (p.Leu264=)
c.3354A>C (p.Leu1118=)
c.4119A>C (p.Leu1373=)
c.4101A>C (p.Leu1367=)
c.807A>C (p.Leu269=)
c.852A>C (p.Leu284=)
c.563A>C
c.816A>C (p.Leu272=)
c.*4025A>C (n.*4025A>C)
c.536A>C
c.933A>C (p.Leu311=)
c.555A>C (p.Leu185=)
c.558A>C (p.Leu186=)
c.5-18568A>C (n.5-18568A>C)
c.-43-7998A>C (n.-43-7998A>C)
c.-98-32329A>C (n.-98-32329A>C)
n.136A>C
n.4378A>C
n.4419A>C
17g.43082519T=CA2260778042BRCA1c.4242A= (p.Leu1414=)
c.4116A= (p.Leu1372=)
c.4236A= (p.Leu1412=)
c.4164A= (p.Leu1388=)
c.930A= (p.Leu310=)
c.792A= (p.Leu264=)
c.3354A= (p.Leu1118=)
c.4119A= (p.Leu1373=)
c.4101A= (p.Leu1367=)
c.807A= (p.Leu269=)
c.852A= (p.Leu284=)
c.563A=
c.816A= (p.Leu272=)
c.*4025A= (n.*4025A=)
c.536A=
c.933A= (p.Leu311=)
c.555A= (p.Leu185=)
c.558A= (p.Leu186=)
c.5-18568A= (n.5-18568A=)
c.-43-7998A= (n.-43-7998A=)
c.-98-32329A= (n.-98-32329A=)
n.136A=
n.4378A=
n.4419A=
17g.43082519dupCA2695201339BRCA1c.4242dup (p.Glu1415ArgfsTer13)
c.4116dup (p.Glu1373ArgfsTer13)
c.4236dup (p.Glu1413ArgfsTer13)
c.4164dup (p.Glu1389ArgfsTer13)
c.930dup (p.Glu311ArgfsTer13)
c.792dup (p.Glu265ArgfsTer13)
c.3354dup (p.Glu1119ArgfsTer13)
c.4119dup (p.Glu1374ArgfsTer13)
c.4101dup (p.Glu1368ArgfsTer13)
c.807dup (p.Glu270ArgfsTer13)
c.852dup (p.Glu285ArgfsTer13)
c.563dup
c.816dup (p.Glu273ArgfsTer13)
c.*4025dup (n.*4025dup)
c.536dup
c.933dup (p.Glu312ArgfsTer13)
c.555dup (p.Glu186ArgfsTer13)
c.558dup (p.Glu187ArgfsTer13)
c.5-18568dup (n.5-18568dup)
c.-43-7998dup (n.-43-7998dup)
c.-98-32329dup (n.-98-32329dup)
n.136dup
n.4378dup
n.4419dup
 ClinVar
17g.43082520A=CA2260778043BRCA1c.4241T= (p.Leu1414=)
c.4115T= (p.Leu1372=)
c.4235T= (p.Leu1412=)
c.4163T= (p.Leu1388=)
c.929T= (p.Leu310=)
c.791T= (p.Leu264=)
c.3353T= (p.Leu1118=)
c.4118T= (p.Leu1373=)
c.4100T= (p.Leu1367=)
c.806T= (p.Leu269=)
c.851T= (p.Leu284=)
c.562T=
c.815T= (p.Leu272=)
c.*4024T= (n.*4024T=)
c.535T=
c.932T= (p.Leu311=)
c.554T= (p.Leu185=)
c.557T= (p.Leu186=)
c.5-18569T= (n.5-18569T=)
c.-43-7999T= (n.-43-7999T=)
c.-98-32330T= (n.-98-32330T=)
n.135T=
n.4377T=
n.4418T=
17g.43082520A>CCA10584556BRCA1c.4241T>G (p.Leu1414Arg)
c.4115T>G (p.Leu1372Arg)
c.4235T>G (p.Leu1412Arg)
c.4163T>G (p.Leu1388Arg)
c.929T>G (p.Leu310Arg)
c.791T>G (p.Leu264Arg)
c.3353T>G (p.Leu1118Arg)
c.4118T>G (p.Leu1373Arg)
c.4100T>G (p.Leu1367Arg)
c.806T>G (p.Leu269Arg)
c.851T>G (p.Leu284Arg)
c.562T>G
c.815T>G (p.Leu272Arg)
c.*4024T>G (n.*4024T>G)
c.535T>G
c.932T>G (p.Leu311Arg)
c.554T>G (p.Leu185Arg)
c.557T>G (p.Leu186Arg)
c.5-18569T>G (n.5-18569T>G)
c.-43-7999T>G (n.-43-7999T>G)
c.-98-32330T>G (n.-98-32330T>G)
n.135T>G
n.4377T>G
n.4418T>G
 ClinVar dbSNP
17g.43082520A>GCA10583561BRCA1c.4241T>C (p.Leu1414Pro)
c.4115T>C (p.Leu1372Pro)
c.4235T>C (p.Leu1412Pro)
c.4163T>C (p.Leu1388Pro)
c.929T>C (p.Leu310Pro)
c.791T>C (p.Leu264Pro)
c.3353T>C (p.Leu1118Pro)
c.4118T>C (p.Leu1373Pro)
c.4100T>C (p.Leu1367Pro)
c.806T>C (p.Leu269Pro)
c.851T>C (p.Leu284Pro)
c.562T>C
c.815T>C (p.Leu272Pro)
c.*4024T>C (n.*4024T>C)
c.535T>C
c.932T>C (p.Leu311Pro)
c.554T>C (p.Leu185Pro)
c.557T>C (p.Leu186Pro)
c.5-18569T>C (n.5-18569T>C)
c.-43-7999T>C (n.-43-7999T>C)
c.-98-32330T>C (n.-98-32330T>C)
n.135T>C
n.4377T>C
n.4418T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082520A>TCA10593238BRCA1c.4241T>A (p.Leu1414Gln)
c.4115T>A (p.Leu1372Gln)
c.4235T>A (p.Leu1412Gln)
c.4163T>A (p.Leu1388Gln)
c.929T>A (p.Leu310Gln)
c.791T>A (p.Leu264Gln)
c.3353T>A (p.Leu1118Gln)
c.4118T>A (p.Leu1373Gln)
c.4100T>A (p.Leu1367Gln)
c.806T>A (p.Leu269Gln)
c.851T>A (p.Leu284Gln)
c.562T>A
c.815T>A (p.Leu272Gln)
c.*4024T>A (n.*4024T>A)
c.535T>A
c.932T>A (p.Leu311Gln)
c.554T>A (p.Leu185Gln)
c.557T>A (p.Leu186Gln)
c.5-18569T>A (n.5-18569T>A)
c.-43-7999T>A (n.-43-7999T>A)
c.-98-32330T>A (n.-98-32330T>A)
n.135T>A
n.4377T>A
n.4418T>A
 dbSNP
17g.43082521G>ACA500148412BRCA1c.4240C>T (p.Leu1414=)
c.4114C>T (p.Leu1372=)
c.4234C>T (p.Leu1412=)
c.4162C>T (p.Leu1388=)
c.928C>T (p.Leu310=)
c.790C>T (p.Leu264=)
c.3352C>T (p.Leu1118=)
c.4117C>T (p.Leu1373=)
c.4099C>T (p.Leu1367=)
c.805C>T (p.Leu269=)
c.850C>T (p.Leu284=)
c.561C>T
c.814C>T (p.Leu272=)
c.*4023C>T (n.*4023C>T)
c.534C>T
c.931C>T (p.Leu311=)
c.553C>T (p.Leu185=)
c.556C>T (p.Leu186=)
c.5-18570C>T (n.5-18570C>T)
c.-43-8000C>T (n.-43-8000C>T)
c.-98-32331C>T (n.-98-32331C>T)
n.134C>T
n.4376C>T
n.4417C>T
 dbSNP
17g.43082521G>CCA10593239BRCA1c.4240C>G (p.Leu1414Val)
c.4114C>G (p.Leu1372Val)
c.4234C>G (p.Leu1412Val)
c.4162C>G (p.Leu1388Val)
c.928C>G (p.Leu310Val)
c.790C>G (p.Leu264Val)
c.3352C>G (p.Leu1118Val)
c.4117C>G (p.Leu1373Val)
c.4099C>G (p.Leu1367Val)
c.805C>G (p.Leu269Val)
c.850C>G (p.Leu284Val)
c.561C>G
c.814C>G (p.Leu272Val)
c.*4023C>G (n.*4023C>G)
c.534C>G
c.931C>G (p.Leu311Val)
c.553C>G (p.Leu185Val)
c.556C>G (p.Leu186Val)
c.5-18570C>G (n.5-18570C>G)
c.-43-8000C>G (n.-43-8000C>G)
c.-98-32331C>G (n.-98-32331C>G)
n.134C>G
n.4376C>G
n.4417C>G
 ClinVar dbSNP
17g.43082521G=CA2260778045BRCA1c.4240C= (p.Leu1414=)
c.4114C= (p.Leu1372=)
c.4234C= (p.Leu1412=)
c.4162C= (p.Leu1388=)
c.928C= (p.Leu310=)
c.790C= (p.Leu264=)
c.3352C= (p.Leu1118=)
c.4117C= (p.Leu1373=)
c.4099C= (p.Leu1367=)
c.805C= (p.Leu269=)
c.850C= (p.Leu284=)
c.561C=
c.814C= (p.Leu272=)
c.*4023C= (n.*4023C=)
c.534C=
c.931C= (p.Leu311=)
c.553C= (p.Leu185=)
c.556C= (p.Leu186=)
c.5-18570C= (n.5-18570C=)
c.-43-8000C= (n.-43-8000C=)
c.-98-32331C= (n.-98-32331C=)
n.134C=
n.4376C=
n.4417C=
17g.43082521G>TCA10593240BRCA1c.4240C>A (p.Leu1414Ile)
c.4114C>A (p.Leu1372Ile)
c.4234C>A (p.Leu1412Ile)
c.4162C>A (p.Leu1388Ile)
c.928C>A (p.Leu310Ile)
c.790C>A (p.Leu264Ile)
c.3352C>A (p.Leu1118Ile)
c.4117C>A (p.Leu1373Ile)
c.4099C>A (p.Leu1367Ile)
c.805C>A (p.Leu269Ile)
c.850C>A (p.Leu284Ile)
c.561C>A
c.814C>A (p.Leu272Ile)
c.*4023C>A (n.*4023C>A)
c.534C>A
c.931C>A (p.Leu311Ile)
c.553C>A (p.Leu185Ile)
c.556C>A (p.Leu186Ile)
c.5-18570C>A (n.5-18570C>A)
c.-43-8000C>A (n.-43-8000C>A)
c.-98-32331C>A (n.-98-32331C>A)
n.134C>A
n.4376C>A
n.4417C>A
17g.43082521dupCA327921BRCA1c.4240dup (p.Leu1414ProfsTer14)
c.4114dup (p.Leu1372ProfsTer14)
c.4234dup (p.Leu1412ProfsTer14)
c.4162dup (p.Leu1388ProfsTer14)
c.928dup (p.Leu310ProfsTer14)
c.790dup (p.Leu264ProfsTer14)
c.3352dup (p.Leu1118ProfsTer14)
c.4117dup (p.Leu1373ProfsTer14)
c.4099dup (p.Leu1367ProfsTer14)
c.805dup (p.Leu269ProfsTer14)
c.850dup (p.Leu284ProfsTer14)
c.561dup
c.814dup (p.Leu272ProfsTer14)
c.*4023dup (n.*4023dup)
c.534dup
c.931dup (p.Leu311ProfsTer14)
c.553dup (p.Leu185ProfsTer14)
c.556dup (p.Leu186ProfsTer14)
c.5-18570dup (n.5-18570dup)
c.-43-8000dup (n.-43-8000dup)
c.-98-32331dup (n.-98-32331dup)
n.134dup
n.4376dup
n.4417dup
 ClinVar dbSNP
17g.43082521_43082522delinsGTCA2260778044BRCA1c.4239_4240delinsAC (p.Glu1413=)
c.4113_4114delinsAC (p.Glu1371=)
c.4233_4234delinsAC (p.Glu1411=)
c.4161_4162delinsAC (p.Glu1387=)
c.927_928delinsAC (p.Glu309=)
c.789_790delinsAC (p.Glu263=)
c.3351_3352delinsAC (p.Glu1117=)
c.4116_4117delinsAC (p.Glu1372=)
c.4098_4099delinsAC (p.Glu1366=)
c.804_805delinsAC (p.Glu268=)
c.849_850delinsAC (p.Glu283=)
c.560_561delinsAC
c.813_814delinsAC (p.Glu271=)
c.*4022_*4023delinsAC (n.*4022_*4023delinsAC)
c.533_534delinsAC
c.930_931delinsAC (p.Glu310=)
c.552_553delinsAC (p.Glu184=)
c.555_556delinsAC (p.Glu185=)
c.5-18571_5-18570delinsAC (n.5-18571_5-18570delinsAC)
c.-43-8001_-43-8000delinsAC (n.-43-8001_-43-8000delinsAC)
c.-98-32332_-98-32331delinsAC (n.-98-32332_-98-32331delinsAC)
n.133_134delinsAC
n.4375_4376delinsAC
n.4416_4417delinsAC
17g.43082522T>ACA10593241BRCA1c.4239A>T (p.Glu1413Asp)
c.4113A>T (p.Glu1371Asp)
c.4233A>T (p.Glu1411Asp)
c.4161A>T (p.Glu1387Asp)
c.927A>T (p.Glu309Asp)
c.789A>T (p.Glu263Asp)
c.3351A>T (p.Glu1117Asp)
c.4116A>T (p.Glu1372Asp)
c.4098A>T (p.Glu1366Asp)
c.804A>T (p.Glu268Asp)
c.849A>T (p.Glu283Asp)
c.560A>T
c.813A>T (p.Glu271Asp)
c.*4022A>T (n.*4022A>T)
c.533A>T
c.930A>T (p.Glu310Asp)
c.552A>T (p.Glu184Asp)
c.555A>T (p.Glu185Asp)
c.5-18571A>T (n.5-18571A>T)
c.-43-8001A>T (n.-43-8001A>T)
c.-98-32332A>T (n.-98-32332A>T)
n.133A>T
n.4375A>T
n.4416A>T
 dbSNP
17g.43082522T>CCA500148413BRCA1c.4239A>G (p.Glu1413=)
c.4113A>G (p.Glu1371=)
c.4233A>G (p.Glu1411=)
c.4161A>G (p.Glu1387=)
c.927A>G (p.Glu309=)
c.789A>G (p.Glu263=)
c.3351A>G (p.Glu1117=)
c.4116A>G (p.Glu1372=)
c.4098A>G (p.Glu1366=)
c.804A>G (p.Glu268=)
c.849A>G (p.Glu283=)
c.560A>G
c.813A>G (p.Glu271=)
c.*4022A>G (n.*4022A>G)
c.533A>G
c.930A>G (p.Glu310=)
c.552A>G (p.Glu184=)
c.555A>G (p.Glu185=)
c.5-18571A>G (n.5-18571A>G)
c.-43-8001A>G (n.-43-8001A>G)
c.-98-32332A>G (n.-98-32332A>G)
n.133A>G
n.4375A>G
n.4416A>G
 dbSNP gnomAD v4
17g.43082522T>GCA10593242BRCA1c.4239A>C (p.Glu1413Asp)
c.4113A>C (p.Glu1371Asp)
c.4233A>C (p.Glu1411Asp)
c.4161A>C (p.Glu1387Asp)
c.927A>C (p.Glu309Asp)
c.789A>C (p.Glu263Asp)
c.3351A>C (p.Glu1117Asp)
c.4116A>C (p.Glu1372Asp)
c.4098A>C (p.Glu1366Asp)
c.804A>C (p.Glu268Asp)
c.849A>C (p.Glu283Asp)
c.560A>C
c.813A>C (p.Glu271Asp)
c.*4022A>C (n.*4022A>C)
c.533A>C
c.930A>C (p.Glu310Asp)
c.552A>C (p.Glu184Asp)
c.555A>C (p.Glu185Asp)
c.5-18571A>C (n.5-18571A>C)
c.-43-8001A>C (n.-43-8001A>C)
c.-98-32332A>C (n.-98-32332A>C)
n.133A>C
n.4375A>C
n.4416A>C
17g.43082523delCA10589676BRCA1c.4239del (p.Glu1413AspfsTer2)
c.4113del (p.Glu1371AspfsTer2)
c.4233del (p.Glu1411AspfsTer2)
c.4161del (p.Glu1387AspfsTer2)
c.927del (p.Glu309AspfsTer2)
c.789del (p.Glu263AspfsTer2)
c.3351del (p.Glu1117AspfsTer2)
c.4116del (p.Glu1372AspfsTer2)
c.4098del (p.Glu1366AspfsTer2)
c.804del (p.Glu268AspfsTer2)
c.849del (p.Glu283AspfsTer2)
c.560del
c.813del (p.Glu271AspfsTer2)
c.*4022del (n.*4022del)
c.533del
c.930del (p.Glu310AspfsTer2)
c.552del (p.Glu184AspfsTer2)
c.555del (p.Glu185AspfsTer2)
c.5-18571del (n.5-18571del)
c.-43-8001del (n.-43-8001del)
c.-98-32332del (n.-98-32332del)
n.133del
n.4375del
n.4416del
 ClinVar dbSNP
17g.43082523T>ACA10593243BRCA1c.4238A>T (p.Glu1413Val)
c.4112A>T (p.Glu1371Val)
c.4232A>T (p.Glu1411Val)
c.4160A>T (p.Glu1387Val)
c.926A>T (p.Glu309Val)
c.788A>T (p.Glu263Val)
c.3350A>T (p.Glu1117Val)
c.4115A>T (p.Glu1372Val)
c.4097A>T (p.Glu1366Val)
c.803A>T (p.Glu268Val)
c.848A>T (p.Glu283Val)
c.559A>T
c.812A>T (p.Glu271Val)
c.*4021A>T (n.*4021A>T)
c.532A>T
c.929A>T (p.Glu310Val)
c.551A>T (p.Glu184Val)
c.554A>T (p.Glu185Val)
c.5-18572A>T (n.5-18572A>T)
c.-43-8002A>T (n.-43-8002A>T)
c.-98-32333A>T (n.-98-32333A>T)
n.132A>T
n.4374A>T
n.4415A>T
 dbSNP
17g.43082523T>CCA10593244BRCA1c.4238A>G (p.Glu1413Gly)
c.4112A>G (p.Glu1371Gly)
c.4232A>G (p.Glu1411Gly)
c.4160A>G (p.Glu1387Gly)
c.926A>G (p.Glu309Gly)
c.788A>G (p.Glu263Gly)
c.3350A>G (p.Glu1117Gly)
c.4115A>G (p.Glu1372Gly)
c.4097A>G (p.Glu1366Gly)
c.803A>G (p.Glu268Gly)
c.848A>G (p.Glu283Gly)
c.559A>G
c.812A>G (p.Glu271Gly)
c.*4021A>G (n.*4021A>G)
c.532A>G
c.929A>G (p.Glu310Gly)
c.551A>G (p.Glu184Gly)
c.554A>G (p.Glu185Gly)
c.5-18572A>G (n.5-18572A>G)
c.-43-8002A>G (n.-43-8002A>G)
c.-98-32333A>G (n.-98-32333A>G)
n.132A>G
n.4374A>G
n.4415A>G
 dbSNP
17g.43082523T>GCA10593245BRCA1c.4238A>C (p.Glu1413Ala)
c.4112A>C (p.Glu1371Ala)
c.4232A>C (p.Glu1411Ala)
c.4160A>C (p.Glu1387Ala)
c.926A>C (p.Glu309Ala)
c.788A>C (p.Glu263Ala)
c.3350A>C (p.Glu1117Ala)
c.4115A>C (p.Glu1372Ala)
c.4097A>C (p.Glu1366Ala)
c.803A>C (p.Glu268Ala)
c.848A>C (p.Glu283Ala)
c.559A>C
c.812A>C (p.Glu271Ala)
c.*4021A>C (n.*4021A>C)
c.532A>C
c.929A>C (p.Glu310Ala)
c.551A>C (p.Glu184Ala)
c.554A>C (p.Glu185Ala)
c.5-18572A>C (n.5-18572A>C)
c.-43-8002A>C (n.-43-8002A>C)
c.-98-32333A>C (n.-98-32333A>C)
n.132A>C
n.4374A>C
n.4415A>C
17g.43082524delCA2573154027BRCA1c.4237del (p.Glu1413AsnfsTer2)
c.4111del (p.Glu1371AsnfsTer2)
c.4231del (p.Glu1411AsnfsTer2)
c.4159del (p.Glu1387AsnfsTer2)
c.925del (p.Glu309AsnfsTer2)
c.787del (p.Glu263AsnfsTer2)
c.3349del (p.Glu1117AsnfsTer2)
c.4114del (p.Glu1372AsnfsTer2)
c.4096del (p.Glu1366AsnfsTer2)
c.802del (p.Glu268AsnfsTer2)
c.847del (p.Glu283AsnfsTer2)
c.558del
c.811del (p.Glu271AsnfsTer2)
c.*4020del (n.*4020del)
c.531del
c.928del (p.Glu310AsnfsTer2)
c.550del (p.Glu184AsnfsTer2)
c.553del (p.Glu185AsnfsTer2)
c.5-18573del (n.5-18573del)
c.-43-8003del (n.-43-8003del)
c.-98-32334del (n.-98-32334del)
n.131del
n.4373del
n.4414del
 ClinVar dbSNP
17g.43082524C>ACA002724BRCA1c.4237G>T (p.Glu1413Ter)
c.4111G>T (p.Glu1371Ter)
c.4231G>T (p.Glu1411Ter)
c.4159G>T (p.Glu1387Ter)
c.925G>T (p.Glu309Ter)
c.787G>T (p.Glu263Ter)
c.3349G>T (p.Glu1117Ter)
c.4114G>T (p.Glu1372Ter)
c.4096G>T (p.Glu1366Ter)
c.802G>T (p.Glu268Ter)
c.847G>T (p.Glu283Ter)
c.558G>T
c.811G>T (p.Glu271Ter)
c.*4020G>T (n.*4020G>T)
c.531G>T
c.928G>T (p.Glu310Ter)
c.550G>T (p.Glu184Ter)
c.553G>T (p.Glu185Ter)
c.5-18573G>T (n.5-18573G>T)
c.-43-8003G>T (n.-43-8003G>T)
c.-98-32334G>T (n.-98-32334G>T)
n.131G>T
n.4373G>T
n.4414G>T
 ClinVar dbSNP
17g.43082524C=CA2260778046BRCA1c.4237G= (p.Glu1413=)
c.4111G= (p.Glu1371=)
c.4231G= (p.Glu1411=)
c.4159G= (p.Glu1387=)
c.925G= (p.Glu309=)
c.787G= (p.Glu263=)
c.3349G= (p.Glu1117=)
c.4114G= (p.Glu1372=)
c.4096G= (p.Glu1366=)
c.802G= (p.Glu268=)
c.847G= (p.Glu283=)
c.558G=
c.811G= (p.Glu271=)
c.*4020G= (n.*4020G=)
c.531G=
c.928G= (p.Glu310=)
c.550G= (p.Glu184=)
c.553G= (p.Glu185=)
c.5-18573G= (n.5-18573G=)
c.-43-8003G= (n.-43-8003G=)
c.-98-32334G= (n.-98-32334G=)
n.131G=
n.4373G=
n.4414G=
17g.43082524C>GCA10593246BRCA1c.4237G>C (p.Glu1413Gln)
c.4111G>C (p.Glu1371Gln)
c.4231G>C (p.Glu1411Gln)
c.4159G>C (p.Glu1387Gln)
c.925G>C (p.Glu309Gln)
c.787G>C (p.Glu263Gln)
c.3349G>C (p.Glu1117Gln)
c.4114G>C (p.Glu1372Gln)
c.4096G>C (p.Glu1366Gln)
c.802G>C (p.Glu268Gln)
c.847G>C (p.Glu283Gln)
c.558G>C
c.811G>C (p.Glu271Gln)
c.*4020G>C (n.*4020G>C)
c.531G>C
c.928G>C (p.Glu310Gln)
c.550G>C (p.Glu184Gln)
c.553G>C (p.Glu185Gln)
c.5-18573G>C (n.5-18573G>C)
c.-43-8003G>C (n.-43-8003G>C)
c.-98-32334G>C (n.-98-32334G>C)
n.131G>C
n.4373G>C
n.4414G>C
 ClinVar dbSNP gnomAD v4
17g.43082524C>TCA10593247BRCA1c.4237G>A (p.Glu1413Lys)
c.4111G>A (p.Glu1371Lys)
c.4231G>A (p.Glu1411Lys)
c.4159G>A (p.Glu1387Lys)
c.925G>A (p.Glu309Lys)
c.787G>A (p.Glu263Lys)
c.3349G>A (p.Glu1117Lys)
c.4114G>A (p.Glu1372Lys)
c.4096G>A (p.Glu1366Lys)
c.802G>A (p.Glu268Lys)
c.847G>A (p.Glu283Lys)
c.558G>A
c.811G>A (p.Glu271Lys)
c.*4020G>A (n.*4020G>A)
c.531G>A
c.928G>A (p.Glu310Lys)
c.550G>A (p.Glu184Lys)
c.553G>A (p.Glu185Lys)
c.5-18573G>A (n.5-18573G>A)
c.-43-8003G>A (n.-43-8003G>A)
c.-98-32334G>A (n.-98-32334G>A)
n.131G>A
n.4373G>A
n.4414G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082525A>CCA500148414BRCA1c.4236T>G (p.Ala1412=)
c.4110T>G (p.Ala1370=)
c.4230T>G (p.Ala1410=)
c.4158T>G (p.Ala1386=)
c.924T>G (p.Ala308=)
c.786T>G (p.Ala262=)
c.3348T>G (p.Ala1116=)
c.4113T>G (p.Ala1371=)
c.4095T>G (p.Ala1365=)
c.801T>G (p.Ala267=)
c.846T>G (p.Ala282=)
c.557T>G
c.810T>G (p.Ala270=)
c.*4019T>G (n.*4019T>G)
c.530T>G
c.927T>G (p.Ala309=)
c.549T>G (p.Ala183=)
c.552T>G (p.Ala184=)
c.5-18574T>G (n.5-18574T>G)
c.-43-8004T>G (n.-43-8004T>G)
c.-98-32335T>G (n.-98-32335T>G)
n.130T>G
n.4372T>G
n.4413T>G
17g.43082525A>GCA500148415BRCA1c.4236T>C (p.Ala1412=)
c.4110T>C (p.Ala1370=)
c.4230T>C (p.Ala1410=)
c.4158T>C (p.Ala1386=)
c.924T>C (p.Ala308=)
c.786T>C (p.Ala262=)
c.3348T>C (p.Ala1116=)
c.4113T>C (p.Ala1371=)
c.4095T>C (p.Ala1365=)
c.801T>C (p.Ala267=)
c.846T>C (p.Ala282=)
c.557T>C
c.810T>C (p.Ala270=)
c.*4019T>C (n.*4019T>C)
c.530T>C
c.927T>C (p.Ala309=)
c.549T>C (p.Ala183=)
c.552T>C (p.Ala184=)
c.5-18574T>C (n.5-18574T>C)
c.-43-8004T>C (n.-43-8004T>C)
c.-98-32335T>C (n.-98-32335T>C)
n.130T>C
n.4372T>C
n.4413T>C
17g.43082525A>TCA500148416BRCA1c.4236T>A (p.Ala1412=)
c.4110T>A (p.Ala1370=)
c.4230T>A (p.Ala1410=)
c.4158T>A (p.Ala1386=)
c.924T>A (p.Ala308=)
c.786T>A (p.Ala262=)
c.3348T>A (p.Ala1116=)
c.4113T>A (p.Ala1371=)
c.4095T>A (p.Ala1365=)
c.801T>A (p.Ala267=)
c.846T>A (p.Ala282=)
c.557T>A
c.810T>A (p.Ala270=)
c.*4019T>A (n.*4019T>A)
c.530T>A
c.927T>A (p.Ala309=)
c.549T>A (p.Ala183=)
c.552T>A (p.Ala184=)
c.5-18574T>A (n.5-18574T>A)
c.-43-8004T>A (n.-43-8004T>A)
c.-98-32335T>A (n.-98-32335T>A)
n.130T>A
n.4372T>A
n.4413T>A
 dbSNP
17g.43082526G>ACA10593248BRCA1c.4235C>T (p.Ala1412Val)
c.4109C>T (p.Ala1370Val)
c.4229C>T (p.Ala1410Val)
c.4157C>T (p.Ala1386Val)
c.923C>T (p.Ala308Val)
c.785C>T (p.Ala262Val)
c.3347C>T (p.Ala1116Val)
c.4112C>T (p.Ala1371Val)
c.4094C>T (p.Ala1365Val)
c.800C>T (p.Ala267Val)
c.845C>T (p.Ala282Val)
c.556C>T
c.809C>T (p.Ala270Val)
c.*4018C>T (n.*4018C>T)
c.529C>T
c.926C>T (p.Ala309Val)
c.548C>T (p.Ala183Val)
c.551C>T (p.Ala184Val)
c.5-18575C>T (n.5-18575C>T)
c.-43-8005C>T (n.-43-8005C>T)
c.-98-32336C>T (n.-98-32336C>T)
n.129C>T
n.4371C>T
n.4412C>T
17g.43082526G>CCA10593249BRCA1c.4235C>G (p.Ala1412Gly)
c.4109C>G (p.Ala1370Gly)
c.4229C>G (p.Ala1410Gly)
c.4157C>G (p.Ala1386Gly)
c.923C>G (p.Ala308Gly)
c.785C>G (p.Ala262Gly)
c.3347C>G (p.Ala1116Gly)
c.4112C>G (p.Ala1371Gly)
c.4094C>G (p.Ala1365Gly)
c.800C>G (p.Ala267Gly)
c.845C>G (p.Ala282Gly)
c.556C>G
c.809C>G (p.Ala270Gly)
c.*4018C>G (n.*4018C>G)
c.529C>G
c.926C>G (p.Ala309Gly)
c.548C>G (p.Ala183Gly)
c.551C>G (p.Ala184Gly)
c.5-18575C>G (n.5-18575C>G)
c.-43-8005C>G (n.-43-8005C>G)
c.-98-32336C>G (n.-98-32336C>G)
n.129C>G
n.4371C>G
n.4412C>G
17g.43082526G>TCA10593250BRCA1c.4235C>A (p.Ala1412Asp)
c.4109C>A (p.Ala1370Asp)
c.4229C>A (p.Ala1410Asp)
c.4157C>A (p.Ala1386Asp)
c.923C>A (p.Ala308Asp)
c.785C>A (p.Ala262Asp)
c.3347C>A (p.Ala1116Asp)
c.4112C>A (p.Ala1371Asp)
c.4094C>A (p.Ala1365Asp)
c.800C>A (p.Ala267Asp)
c.845C>A (p.Ala282Asp)
c.556C>A
c.809C>A (p.Ala270Asp)
c.*4018C>A (n.*4018C>A)
c.529C>A
c.926C>A (p.Ala309Asp)
c.548C>A (p.Ala183Asp)
c.551C>A (p.Ala184Asp)
c.5-18575C>A (n.5-18575C>A)
c.-43-8005C>A (n.-43-8005C>A)
c.-98-32336C>A (n.-98-32336C>A)
n.129C>A
n.4371C>A
n.4412C>A
17g.43082527C>ACA10593251BRCA1c.4234G>T (p.Ala1412Ser)
c.4108G>T (p.Ala1370Ser)
c.4228G>T (p.Ala1410Ser)
c.4156G>T (p.Ala1386Ser)
c.922G>T (p.Ala308Ser)
c.784G>T (p.Ala262Ser)
c.3346G>T (p.Ala1116Ser)
c.4111G>T (p.Ala1371Ser)
c.4093G>T (p.Ala1365Ser)
c.799G>T (p.Ala267Ser)
c.844G>T (p.Ala282Ser)
c.555G>T
c.808G>T (p.Ala270Ser)
c.*4017G>T (n.*4017G>T)
c.528G>T
c.925G>T (p.Ala309Ser)
c.547G>T (p.Ala183Ser)
c.550G>T (p.Ala184Ser)
c.5-18576G>T (n.5-18576G>T)
c.-43-8006G>T (n.-43-8006G>T)
c.-98-32337G>T (n.-98-32337G>T)
n.128G>T
n.4370G>T
n.4411G>T
 ClinVar dbSNP
17g.43082527C=CA2260778047BRCA1c.4234G= (p.Ala1412=)
c.4108G= (p.Ala1370=)
c.4228G= (p.Ala1410=)
c.4156G= (p.Ala1386=)
c.922G= (p.Ala308=)
c.784G= (p.Ala262=)
c.3346G= (p.Ala1116=)
c.4111G= (p.Ala1371=)
c.4093G= (p.Ala1365=)
c.799G= (p.Ala267=)
c.844G= (p.Ala282=)
c.555G=
c.808G= (p.Ala270=)
c.*4017G= (n.*4017G=)
c.528G=
c.925G= (p.Ala309=)
c.547G= (p.Ala183=)
c.550G= (p.Ala184=)
c.5-18576G= (n.5-18576G=)
c.-43-8006G= (n.-43-8006G=)
c.-98-32337G= (n.-98-32337G=)
n.128G=
n.4370G=
n.4411G=
17g.43082527C>GCA10593252BRCA1c.4234G>C (p.Ala1412Pro)
c.4108G>C (p.Ala1370Pro)
c.4228G>C (p.Ala1410Pro)
c.4156G>C (p.Ala1386Pro)
c.922G>C (p.Ala308Pro)
c.784G>C (p.Ala262Pro)
c.3346G>C (p.Ala1116Pro)
c.4111G>C (p.Ala1371Pro)
c.4093G>C (p.Ala1365Pro)
c.799G>C (p.Ala267Pro)
c.844G>C (p.Ala282Pro)
c.555G>C
c.808G>C (p.Ala270Pro)
c.*4017G>C (n.*4017G>C)
c.528G>C
c.925G>C (p.Ala309Pro)
c.547G>C (p.Ala183Pro)
c.550G>C (p.Ala184Pro)
c.5-18576G>C (n.5-18576G>C)
c.-43-8006G>C (n.-43-8006G>C)
c.-98-32337G>C (n.-98-32337G>C)
n.128G>C
n.4370G>C
n.4411G>C
 ClinVar dbSNP
17g.43082527C>TCA059717BRCA1c.4234G>A (p.Ala1412Thr)
c.4108G>A (p.Ala1370Thr)
c.4228G>A (p.Ala1410Thr)
c.4156G>A (p.Ala1386Thr)
c.922G>A (p.Ala308Thr)
c.784G>A (p.Ala262Thr)
c.3346G>A (p.Ala1116Thr)
c.4111G>A (p.Ala1371Thr)
c.4093G>A (p.Ala1365Thr)
c.799G>A (p.Ala267Thr)
c.844G>A (p.Ala282Thr)
c.555G>A
c.808G>A (p.Ala270Thr)
c.*4017G>A (n.*4017G>A)
c.528G>A
c.925G>A (p.Ala309Thr)
c.547G>A (p.Ala183Thr)
c.550G>A (p.Ala184Thr)
c.5-18576G>A (n.5-18576G>A)
c.-43-8006G>A (n.-43-8006G>A)
c.-98-32337G>A (n.-98-32337G>A)
n.128G>A
n.4370G>A
n.4411G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082528C>ACA10593253BRCA1c.4233G>T (p.Met1411Ile)
c.4107G>T (p.Met1369Ile)
c.4227G>T (p.Met1409Ile)
c.4155G>T (p.Met1385Ile)
c.921G>T (p.Met307Ile)
c.783G>T (p.Met261Ile)
c.3345G>T (p.Met1115Ile)
c.4110G>T (p.Met1370Ile)
c.4092G>T (p.Met1364Ile)
c.798G>T (p.Met266Ile)
c.843G>T (p.Met281Ile)
c.554G>T
c.807G>T (p.Met269Ile)
c.*4016G>T (n.*4016G>T)
c.527G>T
c.924G>T (p.Met308Ile)
c.546G>T (p.Met182Ile)
c.549G>T (p.Met183Ile)
c.5-18577G>T (n.5-18577G>T)
c.-43-8007G>T (n.-43-8007G>T)
c.-98-32338G>T (n.-98-32338G>T)
n.127G>T
n.4369G>T
n.4410G>T
17g.43082528C=CA2260778048BRCA1c.4233G= (p.Met1411=)
c.4107G= (p.Met1369=)
c.4227G= (p.Met1409=)
c.4155G= (p.Met1385=)
c.921G= (p.Met307=)
c.783G= (p.Met261=)
c.3345G= (p.Met1115=)
c.4110G= (p.Met1370=)
c.4092G= (p.Met1364=)
c.798G= (p.Met266=)
c.843G= (p.Met281=)
c.554G=
c.807G= (p.Met269=)
c.*4016G= (n.*4016G=)
c.527G=
c.924G= (p.Met308=)
c.546G= (p.Met182=)
c.549G= (p.Met183=)
c.5-18577G= (n.5-18577G=)
c.-43-8007G= (n.-43-8007G=)
c.-98-32338G= (n.-98-32338G=)
n.127G=
n.4369G=
n.4410G=
17g.43082528C>GCA10593254BRCA1c.4233G>C (p.Met1411Ile)
c.4107G>C (p.Met1369Ile)
c.4227G>C (p.Met1409Ile)
c.4155G>C (p.Met1385Ile)
c.921G>C (p.Met307Ile)
c.783G>C (p.Met261Ile)
c.3345G>C (p.Met1115Ile)
c.4110G>C (p.Met1370Ile)
c.4092G>C (p.Met1364Ile)
c.798G>C (p.Met266Ile)
c.843G>C (p.Met281Ile)
c.554G>C
c.807G>C (p.Met269Ile)
c.*4016G>C (n.*4016G>C)
c.527G>C
c.924G>C (p.Met308Ile)
c.546G>C (p.Met182Ile)
c.549G>C (p.Met183Ile)
c.5-18577G>C (n.5-18577G>C)
c.-43-8007G>C (n.-43-8007G>C)
c.-98-32338G>C (n.-98-32338G>C)
n.127G>C
n.4369G>C
n.4410G>C
 dbSNP
17g.43082528C>TCA10593255BRCA1c.4233G>A (p.Met1411Ile)
c.4107G>A (p.Met1369Ile)
c.4227G>A (p.Met1409Ile)
c.4155G>A (p.Met1385Ile)
c.921G>A (p.Met307Ile)
c.783G>A (p.Met261Ile)
c.3345G>A (p.Met1115Ile)
c.4110G>A (p.Met1370Ile)
c.4092G>A (p.Met1364Ile)
c.798G>A (p.Met266Ile)
c.843G>A (p.Met281Ile)
c.554G>A
c.807G>A (p.Met269Ile)
c.*4016G>A (n.*4016G>A)
c.527G>A
c.924G>A (p.Met308Ile)
c.546G>A (p.Met182Ile)
c.549G>A (p.Met183Ile)
c.5-18577G>A (n.5-18577G>A)
c.-43-8007G>A (n.-43-8007G>A)
c.-98-32338G>A (n.-98-32338G>A)
n.127G>A
n.4369G>A
n.4410G>A
 ClinVar dbSNP
17g.43082529A=CA2260778049BRCA1c.4232T= (p.Met1411=)
c.4106T= (p.Met1369=)
c.4226T= (p.Met1409=)
c.4154T= (p.Met1385=)
c.920T= (p.Met307=)
c.782T= (p.Met261=)
c.3344T= (p.Met1115=)
c.4109T= (p.Met1370=)
c.4091T= (p.Met1364=)
c.797T= (p.Met266=)
c.842T= (p.Met281=)
c.553T=
c.806T= (p.Met269=)
c.*4015T= (n.*4015T=)
c.526T=
c.923T= (p.Met308=)
c.545T= (p.Met182=)
c.548T= (p.Met183=)
c.5-18578T= (n.5-18578T=)
c.-43-8008T= (n.-43-8008T=)
c.-98-32339T= (n.-98-32339T=)
n.126T=
n.4368T=
n.4409T=
17g.43082529A>CCA10593256BRCA1c.4232T>G (p.Met1411Arg)
c.4106T>G (p.Met1369Arg)
c.4226T>G (p.Met1409Arg)
c.4154T>G (p.Met1385Arg)
c.920T>G (p.Met307Arg)
c.782T>G (p.Met261Arg)
c.3344T>G (p.Met1115Arg)
c.4109T>G (p.Met1370Arg)
c.4091T>G (p.Met1364Arg)
c.797T>G (p.Met266Arg)
c.842T>G (p.Met281Arg)
c.553T>G
c.806T>G (p.Met269Arg)
c.*4015T>G (n.*4015T>G)
c.526T>G
c.923T>G (p.Met308Arg)
c.545T>G (p.Met182Arg)
c.548T>G (p.Met183Arg)
c.5-18578T>G (n.5-18578T>G)
c.-43-8008T>G (n.-43-8008T>G)
c.-98-32339T>G (n.-98-32339T>G)
n.126T>G
n.4368T>G
n.4409T>G
 dbSNP
17g.43082529A>GCA002723BRCA1c.4232T>C (p.Met1411Thr)
c.4106T>C (p.Met1369Thr)
c.4226T>C (p.Met1409Thr)
c.4154T>C (p.Met1385Thr)
c.920T>C (p.Met307Thr)
c.782T>C (p.Met261Thr)
c.3344T>C (p.Met1115Thr)
c.4109T>C (p.Met1370Thr)
c.4091T>C (p.Met1364Thr)
c.797T>C (p.Met266Thr)
c.842T>C (p.Met281Thr)
c.553T>C
c.806T>C (p.Met269Thr)
c.*4015T>C (n.*4015T>C)
c.526T>C
c.923T>C (p.Met308Thr)
c.545T>C (p.Met182Thr)
c.548T>C (p.Met183Thr)
c.5-18578T>C (n.5-18578T>C)
c.-43-8008T>C (n.-43-8008T>C)
c.-98-32339T>C (n.-98-32339T>C)
n.126T>C
n.4368T>C
n.4409T>C
 ClinVar dbSNP
17g.43082529A>TCA10593257BRCA1c.4232T>A (p.Met1411Lys)
c.4106T>A (p.Met1369Lys)
c.4226T>A (p.Met1409Lys)
c.4154T>A (p.Met1385Lys)
c.920T>A (p.Met307Lys)
c.782T>A (p.Met261Lys)
c.3344T>A (p.Met1115Lys)
c.4109T>A (p.Met1370Lys)
c.4091T>A (p.Met1364Lys)
c.797T>A (p.Met266Lys)
c.842T>A (p.Met281Lys)
c.553T>A
c.806T>A (p.Met269Lys)
c.*4015T>A (n.*4015T>A)
c.526T>A
c.923T>A (p.Met308Lys)
c.545T>A (p.Met182Lys)
c.548T>A (p.Met183Lys)
c.5-18578T>A (n.5-18578T>A)
c.-43-8008T>A (n.-43-8008T>A)
c.-98-32339T>A (n.-98-32339T>A)
n.126T>A
n.4368T>A
n.4409T>A
 dbSNP
17g.43082530T>ACA10593258BRCA1c.4231A>T (p.Met1411Leu)
c.4105A>T (p.Met1369Leu)
c.4225A>T (p.Met1409Leu)
c.4153A>T (p.Met1385Leu)
c.919A>T (p.Met307Leu)
c.781A>T (p.Met261Leu)
c.3343A>T (p.Met1115Leu)
c.4108A>T (p.Met1370Leu)
c.4090A>T (p.Met1364Leu)
c.796A>T (p.Met266Leu)
c.841A>T (p.Met281Leu)
c.552A>T
c.805A>T (p.Met269Leu)
c.*4014A>T (n.*4014A>T)
c.525A>T
c.922A>T (p.Met308Leu)
c.544A>T (p.Met182Leu)
c.547A>T (p.Met183Leu)
c.5-18579A>T (n.5-18579A>T)
c.-43-8009A>T (n.-43-8009A>T)
c.-98-32340A>T (n.-98-32340A>T)
n.125A>T
n.4367A>T
n.4408A>T
17g.43082530T>CCA002722BRCA1c.4231A>G (p.Met1411Val)
c.4105A>G (p.Met1369Val)
c.4225A>G (p.Met1409Val)
c.4153A>G (p.Met1385Val)
c.919A>G (p.Met307Val)
c.781A>G (p.Met261Val)
c.3343A>G (p.Met1115Val)
c.4108A>G (p.Met1370Val)
c.4090A>G (p.Met1364Val)
c.796A>G (p.Met266Val)
c.841A>G (p.Met281Val)
c.552A>G
c.805A>G (p.Met269Val)
c.*4014A>G (n.*4014A>G)
c.525A>G
c.922A>G (p.Met308Val)
c.544A>G (p.Met182Val)
c.547A>G (p.Met183Val)
c.5-18579A>G (n.5-18579A>G)
c.-43-8009A>G (n.-43-8009A>G)
c.-98-32340A>G (n.-98-32340A>G)
n.125A>G
n.4367A>G
n.4408A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082530T>GCA10593259BRCA1c.4231A>C (p.Met1411Leu)
c.4105A>C (p.Met1369Leu)
c.4225A>C (p.Met1409Leu)
c.4153A>C (p.Met1385Leu)
c.919A>C (p.Met307Leu)
c.781A>C (p.Met261Leu)
c.3343A>C (p.Met1115Leu)
c.4108A>C (p.Met1370Leu)
c.4090A>C (p.Met1364Leu)
c.796A>C (p.Met266Leu)
c.841A>C (p.Met281Leu)
c.552A>C
c.805A>C (p.Met269Leu)
c.*4014A>C (n.*4014A>C)
c.525A>C
c.922A>C (p.Met308Leu)
c.544A>C (p.Met182Leu)
c.547A>C (p.Met183Leu)
c.5-18579A>C (n.5-18579A>C)
c.-43-8009A>C (n.-43-8009A>C)
c.-98-32340A>C (n.-98-32340A>C)
n.125A>C
n.4367A>C
n.4408A>C
17g.43082530T=CA2260778050BRCA1c.4231A= (p.Met1411=)
c.4105A= (p.Met1369=)
c.4225A= (p.Met1409=)
c.4153A= (p.Met1385=)
c.919A= (p.Met307=)
c.781A= (p.Met261=)
c.3343A= (p.Met1115=)
c.4108A= (p.Met1370=)
c.4090A= (p.Met1364=)
c.796A= (p.Met266=)
c.841A= (p.Met281=)
c.552A=
c.805A= (p.Met269=)
c.*4014A= (n.*4014A=)
c.525A=
c.922A= (p.Met308=)
c.544A= (p.Met182=)
c.547A= (p.Met183=)
c.5-18579A= (n.5-18579A=)
c.-43-8009A= (n.-43-8009A=)
c.-98-32340A= (n.-98-32340A=)
n.125A=
n.4367A=
n.4408A=
17g.43082530_43082532delinsCCCA2499224427BRCA1c.4229_4231delinsGG (p.Glu1410GlyfsTer5)
c.4103_4105delinsGG (p.Glu1368GlyfsTer5)
c.4223_4225delinsGG (p.Glu1408GlyfsTer5)
c.4151_4153delinsGG (p.Glu1384GlyfsTer5)
c.917_919delinsGG (p.Glu306GlyfsTer5)
c.779_781delinsGG (p.Glu260GlyfsTer5)
c.3341_3343delinsGG (p.Glu1114GlyfsTer5)
c.4106_4108delinsGG (p.Glu1369GlyfsTer5)
c.4088_4090delinsGG (p.Glu1363GlyfsTer5)
c.794_796delinsGG (p.Glu265GlyfsTer5)
c.839_841delinsGG (p.Glu280GlyfsTer5)
c.550_552delinsGG
c.803_805delinsGG (p.Glu268GlyfsTer5)
c.*4012_*4014delinsGG (n.*4012_*4014delinsGG)
c.523_525delinsGG
c.920_922delinsGG (p.Glu307GlyfsTer5)
c.542_544delinsGG (p.Glu181GlyfsTer5)
c.545_547delinsGG (p.Glu182GlyfsTer5)
c.5-18581_5-18579delinsGG (n.5-18581_5-18579delinsGG)
c.-43-8011_-43-8009delinsGG (n.-43-8011_-43-8009delinsGG)
c.-98-32342_-98-32340delinsGG (n.-98-32342_-98-32340delinsGG)
n.123_125delinsGG
n.4365_4367delinsGG
n.4406_4408delinsGG
17g.43082532delCA2580612621BRCA1c.4231del (p.Met1411TrpfsTer4)
c.4105del (p.Met1369TrpfsTer4)
c.4225del (p.Met1409TrpfsTer4)
c.4153del (p.Met1385TrpfsTer4)
c.919del (p.Met307TrpfsTer4)
c.781del (p.Met261TrpfsTer4)
c.3343del (p.Met1115TrpfsTer4)
c.4108del (p.Met1370TrpfsTer4)
c.4090del (p.Met1364TrpfsTer4)
c.796del (p.Met266TrpfsTer4)
c.841del (p.Met281TrpfsTer4)
c.552del
c.805del (p.Met269TrpfsTer4)
c.*4014del (n.*4014del)
c.525del
c.922del (p.Met308TrpfsTer4)
c.544del (p.Met182TrpfsTer4)
c.547del (p.Met183TrpfsTer4)
c.5-18579del (n.5-18579del)
c.-43-8009del (n.-43-8009del)
c.-98-32340del (n.-98-32340del)
n.125del
n.4367del
n.4408del
 ClinVar
17g.43082531_43082538delCA2499224428BRCA1c.4224_4231del (p.Gln1408HisfsTer3)
c.4098_4105del (p.Gln1366HisfsTer3)
c.4218_4225del (p.Gln1406HisfsTer3)
c.4146_4153del (p.Gln1382HisfsTer3)
c.912_919del (p.Gln304HisfsTer3)
c.774_781del (p.Gln258HisfsTer3)
c.3336_3343del (p.Gln1112HisfsTer3)
c.4101_4108del (p.Gln1367HisfsTer3)
c.4083_4090del (p.Gln1361HisfsTer3)
c.789_796del (p.Gln263HisfsTer3)
c.834_841del (p.Gln278HisfsTer3)
c.545_552del
c.798_805del (p.Gln266HisfsTer3)
c.*4007_*4014del (n.*4007_*4014del)
c.518_525del
c.915_922del (p.Gln305HisfsTer3)
c.537_544del (p.Gln179HisfsTer3)
c.540_547del (p.Gln180HisfsTer3)
c.5-18586_5-18579del (n.5-18586_5-18579del)
c.-43-8016_-43-8009del (n.-43-8016_-43-8009del)
c.-98-32347_-98-32340del (n.-98-32347_-98-32340del)
n.118_125del
n.4360_4367del
n.4401_4408del
17g.43082531T>ACA10593260BRCA1c.4230A>T (p.Glu1410Asp)
c.4104A>T (p.Glu1368Asp)
c.4224A>T (p.Glu1408Asp)
c.4152A>T (p.Glu1384Asp)
c.918A>T (p.Glu306Asp)
c.780A>T (p.Glu260Asp)
c.3342A>T (p.Glu1114Asp)
c.4107A>T (p.Glu1369Asp)
c.4089A>T (p.Glu1363Asp)
c.795A>T (p.Glu265Asp)
c.840A>T (p.Glu280Asp)
c.551A>T
c.804A>T (p.Glu268Asp)
c.*4013A>T (n.*4013A>T)
c.524A>T
c.921A>T (p.Glu307Asp)
c.543A>T (p.Glu181Asp)
c.546A>T (p.Glu182Asp)
c.5-18580A>T (n.5-18580A>T)
c.-43-8010A>T (n.-43-8010A>T)
c.-98-32341A>T (n.-98-32341A>T)
n.124A>T
n.4366A>T
n.4407A>T
 dbSNP
17g.43082531T>CCA500148417BRCA1c.4230A>G (p.Glu1410=)
c.4104A>G (p.Glu1368=)
c.4224A>G (p.Glu1408=)
c.4152A>G (p.Glu1384=)
c.918A>G (p.Glu306=)
c.780A>G (p.Glu260=)
c.3342A>G (p.Glu1114=)
c.4107A>G (p.Glu1369=)
c.4089A>G (p.Glu1363=)
c.795A>G (p.Glu265=)
c.840A>G (p.Glu280=)
c.551A>G
c.804A>G (p.Glu268=)
c.*4013A>G (n.*4013A>G)
c.524A>G
c.921A>G (p.Glu307=)
c.543A>G (p.Glu181=)
c.546A>G (p.Glu182=)
c.5-18580A>G (n.5-18580A>G)
c.-43-8010A>G (n.-43-8010A>G)
c.-98-32341A>G (n.-98-32341A>G)
n.124A>G
n.4366A>G
n.4407A>G
 ClinVar dbSNP gnomAD v4
17g.43082531T>GCA10593261BRCA1c.4230A>C (p.Glu1410Asp)
c.4104A>C (p.Glu1368Asp)
c.4224A>C (p.Glu1408Asp)
c.4152A>C (p.Glu1384Asp)
c.918A>C (p.Glu306Asp)
c.780A>C (p.Glu260Asp)
c.3342A>C (p.Glu1114Asp)
c.4107A>C (p.Glu1369Asp)
c.4089A>C (p.Glu1363Asp)
c.795A>C (p.Glu265Asp)
c.840A>C (p.Glu280Asp)
c.551A>C
c.804A>C (p.Glu268Asp)
c.*4013A>C (n.*4013A>C)
c.524A>C
c.921A>C (p.Glu307Asp)
c.543A>C (p.Glu181Asp)
c.546A>C (p.Glu182Asp)
c.5-18580A>C (n.5-18580A>C)
c.-43-8010A>C (n.-43-8010A>C)
c.-98-32341A>C (n.-98-32341A>C)
n.124A>C
n.4366A>C
n.4407A>C
17g.43082531T=CA2260778051BRCA1c.4230A= (p.Glu1410=)
c.4104A= (p.Glu1368=)
c.4224A= (p.Glu1408=)
c.4152A= (p.Glu1384=)
c.918A= (p.Glu306=)
c.780A= (p.Glu260=)
c.3342A= (p.Glu1114=)
c.4107A= (p.Glu1369=)
c.4089A= (p.Glu1363=)
c.795A= (p.Glu265=)
c.840A= (p.Glu280=)
c.551A=
c.804A= (p.Glu268=)
c.*4013A= (n.*4013A=)
c.524A=
c.921A= (p.Glu307=)
c.543A= (p.Glu181=)
c.546A= (p.Glu182=)
c.5-18580A= (n.5-18580A=)
c.-43-8010A= (n.-43-8010A=)
c.-98-32341A= (n.-98-32341A=)
n.124A=
n.4366A=
n.4407A=
17g.43082532T>ACA10593262BRCA1c.4229A>T (p.Glu1410Val)
c.4103A>T (p.Glu1368Val)
c.4223A>T (p.Glu1408Val)
c.4151A>T (p.Glu1384Val)
c.917A>T (p.Glu306Val)
c.779A>T (p.Glu260Val)
c.3341A>T (p.Glu1114Val)
c.4106A>T (p.Glu1369Val)
c.4088A>T (p.Glu1363Val)
c.794A>T (p.Glu265Val)
c.839A>T (p.Glu280Val)
c.550A>T
c.803A>T (p.Glu268Val)
c.*4012A>T (n.*4012A>T)
c.523A>T
c.920A>T (p.Glu307Val)
c.542A>T (p.Glu181Val)
c.545A>T (p.Glu182Val)
c.5-18581A>T (n.5-18581A>T)
c.-43-8011A>T (n.-43-8011A>T)
c.-98-32342A>T (n.-98-32342A>T)
n.123A>T
n.4365A>T
n.4406A>T
 ClinVar dbSNP
17g.43082532T>CCA10593263BRCA1c.4229A>G (p.Glu1410Gly)
c.4103A>G (p.Glu1368Gly)
c.4223A>G (p.Glu1408Gly)
c.4151A>G (p.Glu1384Gly)
c.917A>G (p.Glu306Gly)
c.779A>G (p.Glu260Gly)
c.3341A>G (p.Glu1114Gly)
c.4106A>G (p.Glu1369Gly)
c.4088A>G (p.Glu1363Gly)
c.794A>G (p.Glu265Gly)
c.839A>G (p.Glu280Gly)
c.550A>G
c.803A>G (p.Glu268Gly)
c.*4012A>G (n.*4012A>G)
c.523A>G
c.920A>G (p.Glu307Gly)
c.542A>G (p.Glu181Gly)
c.545A>G (p.Glu182Gly)
c.5-18581A>G (n.5-18581A>G)
c.-43-8011A>G (n.-43-8011A>G)
c.-98-32342A>G (n.-98-32342A>G)
n.123A>G
n.4365A>G
n.4406A>G
17g.43082532T>GCA10593264BRCA1c.4229A>C (p.Glu1410Ala)
c.4103A>C (p.Glu1368Ala)
c.4223A>C (p.Glu1408Ala)
c.4151A>C (p.Glu1384Ala)
c.917A>C (p.Glu306Ala)
c.779A>C (p.Glu260Ala)
c.3341A>C (p.Glu1114Ala)
c.4106A>C (p.Glu1369Ala)
c.4088A>C (p.Glu1363Ala)
c.794A>C (p.Glu265Ala)
c.839A>C (p.Glu280Ala)
c.550A>C
c.803A>C (p.Glu268Ala)
c.*4012A>C (n.*4012A>C)
c.523A>C
c.920A>C (p.Glu307Ala)
c.542A>C (p.Glu181Ala)
c.545A>C (p.Glu182Ala)
c.5-18581A>C (n.5-18581A>C)
c.-43-8011A>C (n.-43-8011A>C)
c.-98-32342A>C (n.-98-32342A>C)
n.123A>C
n.4365A>C
n.4406A>C
17g.43082532T=CA2260778052BRCA1c.4229A= (p.Glu1410=)
c.4103A= (p.Glu1368=)
c.4223A= (p.Glu1408=)
c.4151A= (p.Glu1384=)
c.917A= (p.Glu306=)
c.779A= (p.Glu260=)
c.3341A= (p.Glu1114=)
c.4106A= (p.Glu1369=)
c.4088A= (p.Glu1363=)
c.794A= (p.Glu265=)
c.839A= (p.Glu280=)
c.550A=
c.803A= (p.Glu268=)
c.*4012A= (n.*4012A=)
c.523A=
c.920A= (p.Glu307=)
c.542A= (p.Glu181=)
c.545A= (p.Glu182=)
c.5-18581A= (n.5-18581A=)
c.-43-8011A= (n.-43-8011A=)
c.-98-32342A= (n.-98-32342A=)
n.123A=
n.4365A=
n.4406A=
17g.43082533_43082535dupCA913187500BRCA1c.4227_4229dup (p.Glu1410_Met1411insGlu)
c.4101_4103dup (p.Glu1368_Met1369insGlu)
c.4221_4223dup (p.Glu1408_Met1409insGlu)
c.4149_4151dup (p.Glu1384_Met1385insGlu)
c.915_917dup (p.Glu306_Met307insGlu)
c.777_779dup (p.Glu260_Met261insGlu)
c.3339_3341dup (p.Glu1114_Met1115insGlu)
c.4104_4106dup (p.Glu1369_Met1370insGlu)
c.4086_4088dup (p.Glu1363_Met1364insGlu)
c.792_794dup (p.Glu265_Met266insGlu)
c.837_839dup (p.Glu280_Met281insGlu)
c.548_550dup
c.801_803dup (p.Glu268_Met269insGlu)
c.*4010_*4012dup (n.*4010_*4012dup)
c.521_523dup
c.918_920dup (p.Glu307_Met308insGlu)
c.540_542dup (p.Glu181_Met182insGlu)
c.543_545dup (p.Glu182_Met183insGlu)
c.5-18583_5-18581dup (n.5-18583_5-18581dup)
c.-43-8013_-43-8011dup (n.-43-8013_-43-8011dup)
c.-98-32344_-98-32342dup (n.-98-32344_-98-32342dup)
n.121_123dup
n.4363_4365dup
n.4404_4406dup
 ClinVar dbSNP
17g.43082533C>ACA002721BRCA1c.4228G>T (p.Glu1410Ter)
c.4102G>T (p.Glu1368Ter)
c.4222G>T (p.Glu1408Ter)
c.4150G>T (p.Glu1384Ter)
c.916G>T (p.Glu306Ter)
c.778G>T (p.Glu260Ter)
c.3340G>T (p.Glu1114Ter)
c.4105G>T (p.Glu1369Ter)
c.4087G>T (p.Glu1363Ter)
c.793G>T (p.Glu265Ter)
c.838G>T (p.Glu280Ter)
c.549G>T
c.802G>T (p.Glu268Ter)
c.*4011G>T (n.*4011G>T)
c.522G>T
c.919G>T (p.Glu307Ter)
c.541G>T (p.Glu181Ter)
c.544G>T (p.Glu182Ter)
c.5-18582G>T (n.5-18582G>T)
c.-43-8012G>T (n.-43-8012G>T)
c.-98-32343G>T (n.-98-32343G>T)
n.122G>T
n.4364G>T
n.4405G>T
 ClinVar dbSNP
17g.43082533C=CA2260778053BRCA1c.4228G= (p.Glu1410=)
c.4102G= (p.Glu1368=)
c.4222G= (p.Glu1408=)
c.4150G= (p.Glu1384=)
c.916G= (p.Glu306=)
c.778G= (p.Glu260=)
c.3340G= (p.Glu1114=)
c.4105G= (p.Glu1369=)
c.4087G= (p.Glu1363=)
c.793G= (p.Glu265=)
c.838G= (p.Glu280=)
c.549G=
c.802G= (p.Glu268=)
c.*4011G= (n.*4011G=)
c.522G=
c.919G= (p.Glu307=)
c.541G= (p.Glu181=)
c.544G= (p.Glu182=)
c.5-18582G= (n.5-18582G=)
c.-43-8012G= (n.-43-8012G=)
c.-98-32343G= (n.-98-32343G=)
n.122G=
n.4364G=
n.4405G=
17g.43082533C>GCA10593265BRCA1c.4228G>C (p.Glu1410Gln)
c.4102G>C (p.Glu1368Gln)
c.4222G>C (p.Glu1408Gln)
c.4150G>C (p.Glu1384Gln)
c.916G>C (p.Glu306Gln)
c.778G>C (p.Glu260Gln)
c.3340G>C (p.Glu1114Gln)
c.4105G>C (p.Glu1369Gln)
c.4087G>C (p.Glu1363Gln)
c.793G>C (p.Glu265Gln)
c.838G>C (p.Glu280Gln)
c.549G>C
c.802G>C (p.Glu268Gln)
c.*4011G>C (n.*4011G>C)
c.522G>C
c.919G>C (p.Glu307Gln)
c.541G>C (p.Glu181Gln)
c.544G>C (p.Glu182Gln)
c.5-18582G>C (n.5-18582G>C)
c.-43-8012G>C (n.-43-8012G>C)
c.-98-32343G>C (n.-98-32343G>C)
n.122G>C
n.4364G>C
n.4405G>C
 dbSNP
17g.43082533C>TCA10593266BRCA1c.4228G>A (p.Glu1410Lys)
c.4102G>A (p.Glu1368Lys)
c.4222G>A (p.Glu1408Lys)
c.4150G>A (p.Glu1384Lys)
c.916G>A (p.Glu306Lys)
c.778G>A (p.Glu260Lys)
c.3340G>A (p.Glu1114Lys)
c.4105G>A (p.Glu1369Lys)
c.4087G>A (p.Glu1363Lys)
c.793G>A (p.Glu265Lys)
c.838G>A (p.Glu280Lys)
c.549G>A
c.802G>A (p.Glu268Lys)
c.*4011G>A (n.*4011G>A)
c.522G>A
c.919G>A (p.Glu307Lys)
c.541G>A (p.Glu181Lys)
c.544G>A (p.Glu182Lys)
c.5-18582G>A (n.5-18582G>A)
c.-43-8012G>A (n.-43-8012G>A)
c.-98-32343G>A (n.-98-32343G>A)
n.122G>A
n.4364G>A
n.4405G>A
 dbSNP
17g.43082534delCA658761228BRCA1c.4228del (p.Glu1410LysfsTer5)
c.4102del (p.Glu1368LysfsTer5)
c.4222del (p.Glu1408LysfsTer5)
c.4150del (p.Glu1384LysfsTer5)
c.916del (p.Glu306LysfsTer5)
c.778del (p.Glu260LysfsTer5)
c.3340del (p.Glu1114LysfsTer5)
c.4105del (p.Glu1369LysfsTer5)
c.4087del (p.Glu1363LysfsTer5)
c.793del (p.Glu265LysfsTer5)
c.838del (p.Glu280LysfsTer5)
c.549del
c.802del (p.Glu268LysfsTer5)
c.*4011del (n.*4011del)
c.522del
c.919del (p.Glu307LysfsTer5)
c.541del (p.Glu181LysfsTer5)
c.544del (p.Glu182LysfsTer5)
c.5-18582del (n.5-18582del)
c.-43-8012del (n.-43-8012del)
c.-98-32343del (n.-98-32343del)
n.122del
n.4364del
n.4405del
17g.43082534C>ACA10593267BRCA1c.4227G>T (p.Gln1409His)
c.4101G>T (p.Gln1367His)
c.4221G>T (p.Gln1407His)
c.4149G>T (p.Gln1383His)
c.915G>T (p.Gln305His)
c.777G>T (p.Gln259His)
c.3339G>T (p.Gln1113His)
c.4104G>T (p.Gln1368His)
c.4086G>T (p.Gln1362His)
c.792G>T (p.Gln264His)
c.837G>T (p.Gln279His)
c.548G>T
c.801G>T (p.Gln267His)
c.*4010G>T (n.*4010G>T)
c.521G>T
c.918G>T (p.Gln306His)
c.540G>T (p.Gln180His)
c.543G>T (p.Gln181His)
c.5-18583G>T (n.5-18583G>T)
c.-43-8013G>T (n.-43-8013G>T)
c.-98-32344G>T (n.-98-32344G>T)
n.121G>T
n.4363G>T
n.4404G>T
17g.43082534C=CA2260778054BRCA1c.4227G= (p.Gln1409=)
c.4101G= (p.Gln1367=)
c.4221G= (p.Gln1407=)
c.4149G= (p.Gln1383=)
c.915G= (p.Gln305=)
c.777G= (p.Gln259=)
c.3339G= (p.Gln1113=)
c.4104G= (p.Gln1368=)
c.4086G= (p.Gln1362=)
c.792G= (p.Gln264=)
c.837G= (p.Gln279=)
c.548G=
c.801G= (p.Gln267=)
c.*4010G= (n.*4010G=)
c.521G=
c.918G= (p.Gln306=)
c.540G= (p.Gln180=)
c.543G= (p.Gln181=)
c.5-18583G= (n.5-18583G=)
c.-43-8013G= (n.-43-8013G=)
c.-98-32344G= (n.-98-32344G=)
n.121G=
n.4363G=
n.4404G=
17g.43082534C>GCA10593268BRCA1c.4227G>C (p.Gln1409His)
c.4101G>C (p.Gln1367His)
c.4221G>C (p.Gln1407His)
c.4149G>C (p.Gln1383His)
c.915G>C (p.Gln305His)
c.777G>C (p.Gln259His)
c.3339G>C (p.Gln1113His)
c.4104G>C (p.Gln1368His)
c.4086G>C (p.Gln1362His)
c.792G>C (p.Gln264His)
c.837G>C (p.Gln279His)
c.548G>C
c.801G>C (p.Gln267His)
c.*4010G>C (n.*4010G>C)
c.521G>C
c.918G>C (p.Gln306His)
c.540G>C (p.Gln180His)
c.543G>C (p.Gln181His)
c.5-18583G>C (n.5-18583G>C)
c.-43-8013G>C (n.-43-8013G>C)
c.-98-32344G>C (n.-98-32344G>C)
n.121G>C
n.4363G>C
n.4404G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082534C>TCA002720BRCA1c.4227G>A (p.Gln1409=)
c.4101G>A (p.Gln1367=)
c.4221G>A (p.Gln1407=)
c.4149G>A (p.Gln1383=)
c.915G>A (p.Gln305=)
c.777G>A (p.Gln259=)
c.3339G>A (p.Gln1113=)
c.4104G>A (p.Gln1368=)
c.4086G>A (p.Gln1362=)
c.792G>A (p.Gln264=)
c.837G>A (p.Gln279=)
c.548G>A
c.801G>A (p.Gln267=)
c.*4010G>A (n.*4010G>A)
c.521G>A
c.918G>A (p.Gln306=)
c.540G>A (p.Gln180=)
c.543G>A (p.Gln181=)
c.5-18583G>A (n.5-18583G>A)
c.-43-8013G>A (n.-43-8013G>A)
c.-98-32344G>A (n.-98-32344G>A)
n.121G>A
n.4363G>A
n.4404G>A
 ClinVar dbSNP
17g.43082535T>ACA10593269BRCA1c.4226A>T (p.Gln1409Leu)
c.4100A>T (p.Gln1367Leu)
c.4220A>T (p.Gln1407Leu)
c.4148A>T (p.Gln1383Leu)
c.914A>T (p.Gln305Leu)
c.776A>T (p.Gln259Leu)
c.3338A>T (p.Gln1113Leu)
c.4103A>T (p.Gln1368Leu)
c.4085A>T (p.Gln1362Leu)
c.791A>T (p.Gln264Leu)
c.836A>T (p.Gln279Leu)
c.547A>T
c.800A>T (p.Gln267Leu)
c.*4009A>T (n.*4009A>T)
c.520A>T
c.917A>T (p.Gln306Leu)
c.539A>T (p.Gln180Leu)
c.542A>T (p.Gln181Leu)
c.5-18584A>T (n.5-18584A>T)
c.-43-8014A>T (n.-43-8014A>T)
c.-98-32345A>T (n.-98-32345A>T)
n.120A>T
n.4362A>T
n.4403A>T
 ClinVar dbSNP
17g.43082535T>CCA10593270BRCA1c.4226A>G (p.Gln1409Arg)
c.4100A>G (p.Gln1367Arg)
c.4220A>G (p.Gln1407Arg)
c.4148A>G (p.Gln1383Arg)
c.914A>G (p.Gln305Arg)
c.776A>G (p.Gln259Arg)
c.3338A>G (p.Gln1113Arg)
c.4103A>G (p.Gln1368Arg)
c.4085A>G (p.Gln1362Arg)
c.791A>G (p.Gln264Arg)
c.836A>G (p.Gln279Arg)
c.547A>G
c.800A>G (p.Gln267Arg)
c.*4009A>G (n.*4009A>G)
c.520A>G
c.917A>G (p.Gln306Arg)
c.539A>G (p.Gln180Arg)
c.542A>G (p.Gln181Arg)
c.5-18584A>G (n.5-18584A>G)
c.-43-8014A>G (n.-43-8014A>G)
c.-98-32345A>G (n.-98-32345A>G)
n.120A>G
n.4362A>G
n.4403A>G
17g.43082535T>GCA10593271BRCA1c.4226A>C (p.Gln1409Pro)
c.4100A>C (p.Gln1367Pro)
c.4220A>C (p.Gln1407Pro)
c.4148A>C (p.Gln1383Pro)
c.914A>C (p.Gln305Pro)
c.776A>C (p.Gln259Pro)
c.3338A>C (p.Gln1113Pro)
c.4103A>C (p.Gln1368Pro)
c.4085A>C (p.Gln1362Pro)
c.791A>C (p.Gln264Pro)
c.836A>C (p.Gln279Pro)
c.547A>C
c.800A>C (p.Gln267Pro)
c.*4009A>C (n.*4009A>C)
c.520A>C
c.917A>C (p.Gln306Pro)
c.539A>C (p.Gln180Pro)
c.542A>C (p.Gln181Pro)
c.5-18584A>C (n.5-18584A>C)
c.-43-8014A>C (n.-43-8014A>C)
c.-98-32345A>C (n.-98-32345A>C)
n.120A>C
n.4362A>C
n.4403A>C
 ClinVar
17g.43082535T=CA2260778055BRCA1c.4226A= (p.Gln1409=)
c.4100A= (p.Gln1367=)
c.4220A= (p.Gln1407=)
c.4148A= (p.Gln1383=)
c.914A= (p.Gln305=)
c.776A= (p.Gln259=)
c.3338A= (p.Gln1113=)
c.4103A= (p.Gln1368=)
c.4085A= (p.Gln1362=)
c.791A= (p.Gln264=)
c.836A= (p.Gln279=)
c.547A=
c.800A= (p.Gln267=)
c.*4009A= (n.*4009A=)
c.520A=
c.917A= (p.Gln306=)
c.539A= (p.Gln180=)
c.542A= (p.Gln181=)
c.5-18584A= (n.5-18584A=)
c.-43-8014A= (n.-43-8014A=)
c.-98-32345A= (n.-98-32345A=)
n.120A=
n.4362A=
n.4403A=
17g.43082536G>ACA10589677BRCA1c.4225C>T (p.Gln1409Ter)
c.4099C>T (p.Gln1367Ter)
c.4219C>T (p.Gln1407Ter)
c.4147C>T (p.Gln1383Ter)
c.913C>T (p.Gln305Ter)
c.775C>T (p.Gln259Ter)
c.3337C>T (p.Gln1113Ter)
c.4102C>T (p.Gln1368Ter)
c.4084C>T (p.Gln1362Ter)
c.790C>T (p.Gln264Ter)
c.835C>T (p.Gln279Ter)
c.546C>T
c.799C>T (p.Gln267Ter)
c.*4008C>T (n.*4008C>T)
c.519C>T
c.916C>T (p.Gln306Ter)
c.538C>T (p.Gln180Ter)
c.541C>T (p.Gln181Ter)
c.5-18585C>T (n.5-18585C>T)
c.-43-8015C>T (n.-43-8015C>T)
c.-98-32346C>T (n.-98-32346C>T)
n.119C>T
n.4361C>T
n.4402C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43082536G>CCA10593272BRCA1c.4225C>G (p.Gln1409Glu)
c.4099C>G (p.Gln1367Glu)
c.4219C>G (p.Gln1407Glu)
c.4147C>G (p.Gln1383Glu)
c.913C>G (p.Gln305Glu)
c.775C>G (p.Gln259Glu)
c.3337C>G (p.Gln1113Glu)
c.4102C>G (p.Gln1368Glu)
c.4084C>G (p.Gln1362Glu)
c.790C>G (p.Gln264Glu)
c.835C>G (p.Gln279Glu)
c.546C>G
c.799C>G (p.Gln267Glu)
c.*4008C>G (n.*4008C>G)
c.519C>G
c.916C>G (p.Gln306Glu)
c.538C>G (p.Gln180Glu)
c.541C>G (p.Gln181Glu)
c.5-18585C>G (n.5-18585C>G)
c.-43-8015C>G (n.-43-8015C>G)
c.-98-32346C>G (n.-98-32346C>G)
n.119C>G
n.4361C>G
n.4402C>G
 dbSNP gnomAD v4
17g.43082536G=CA2260778056BRCA1c.4225C= (p.Gln1409=)
c.4099C= (p.Gln1367=)
c.4219C= (p.Gln1407=)
c.4147C= (p.Gln1383=)
c.913C= (p.Gln305=)
c.775C= (p.Gln259=)
c.3337C= (p.Gln1113=)
c.4102C= (p.Gln1368=)
c.4084C= (p.Gln1362=)
c.790C= (p.Gln264=)
c.835C= (p.Gln279=)
c.546C=
c.799C= (p.Gln267=)
c.*4008C= (n.*4008C=)
c.519C=
c.916C= (p.Gln306=)
c.538C= (p.Gln180=)
c.541C= (p.Gln181=)
c.5-18585C= (n.5-18585C=)
c.-43-8015C= (n.-43-8015C=)
c.-98-32346C= (n.-98-32346C=)
n.119C=
n.4361C=
n.4402C=
17g.43082536G>TCA10593273BRCA1c.4225C>A (p.Gln1409Lys)
c.4099C>A (p.Gln1367Lys)
c.4219C>A (p.Gln1407Lys)
c.4147C>A (p.Gln1383Lys)
c.913C>A (p.Gln305Lys)
c.775C>A (p.Gln259Lys)
c.3337C>A (p.Gln1113Lys)
c.4102C>A (p.Gln1368Lys)
c.4084C>A (p.Gln1362Lys)
c.790C>A (p.Gln264Lys)
c.835C>A (p.Gln279Lys)
c.546C>A
c.799C>A (p.Gln267Lys)
c.*4008C>A (n.*4008C>A)
c.519C>A
c.916C>A (p.Gln306Lys)
c.538C>A (p.Gln180Lys)
c.541C>A (p.Gln181Lys)
c.5-18585C>A (n.5-18585C>A)
c.-43-8015C>A (n.-43-8015C>A)
c.-98-32346C>A (n.-98-32346C>A)
n.119C>A
n.4361C>A
n.4402C>A
17g.43082537C>ACA10593274BRCA1c.4224G>T (p.Gln1408His)
c.4098G>T (p.Gln1366His)
c.4218G>T (p.Gln1406His)
c.4146G>T (p.Gln1382His)
c.912G>T (p.Gln304His)
c.774G>T (p.Gln258His)
c.3336G>T (p.Gln1112His)
c.4101G>T (p.Gln1367His)
c.4083G>T (p.Gln1361His)
c.789G>T (p.Gln263His)
c.834G>T (p.Gln278His)
c.545G>T
c.798G>T (p.Gln266His)
c.*4007G>T (n.*4007G>T)
c.518G>T
c.915G>T (p.Gln305His)
c.537G>T (p.Gln179His)
c.540G>T (p.Gln180His)
c.5-18586G>T (n.5-18586G>T)
c.-43-8016G>T (n.-43-8016G>T)
c.-98-32347G>T (n.-98-32347G>T)
n.118G>T
n.4360G>T
n.4401G>T
17g.43082537C=CA2260778057BRCA1c.4224G= (p.Gln1408=)
c.4098G= (p.Gln1366=)
c.4218G= (p.Gln1406=)
c.4146G= (p.Gln1382=)
c.912G= (p.Gln304=)
c.774G= (p.Gln258=)
c.3336G= (p.Gln1112=)
c.4101G= (p.Gln1367=)
c.4083G= (p.Gln1361=)
c.789G= (p.Gln263=)
c.834G= (p.Gln278=)
c.545G=
c.798G= (p.Gln266=)
c.*4007G= (n.*4007G=)
c.518G=
c.915G= (p.Gln305=)
c.537G= (p.Gln179=)
c.540G= (p.Gln180=)
c.5-18586G= (n.5-18586G=)
c.-43-8016G= (n.-43-8016G=)
c.-98-32347G= (n.-98-32347G=)
n.118G=
n.4360G=
n.4401G=
17g.43082537C>GCA10593275BRCA1c.4224G>C (p.Gln1408His)
c.4098G>C (p.Gln1366His)
c.4218G>C (p.Gln1406His)
c.4146G>C (p.Gln1382His)
c.912G>C (p.Gln304His)
c.774G>C (p.Gln258His)
c.3336G>C (p.Gln1112His)
c.4101G>C (p.Gln1367His)
c.4083G>C (p.Gln1361His)
c.789G>C (p.Gln263His)
c.834G>C (p.Gln278His)
c.545G>C
c.798G>C (p.Gln266His)
c.*4007G>C (n.*4007G>C)
c.518G>C
c.915G>C (p.Gln305His)
c.537G>C (p.Gln179His)
c.540G>C (p.Gln180His)
c.5-18586G>C (n.5-18586G>C)
c.-43-8016G>C (n.-43-8016G>C)
c.-98-32347G>C (n.-98-32347G>C)
n.118G>C
n.4360G>C
n.4401G>C
 ClinVar dbSNP
17g.43082537C>TCA500148418BRCA1c.4224G>A (p.Gln1408=)
c.4098G>A (p.Gln1366=)
c.4218G>A (p.Gln1406=)
c.4146G>A (p.Gln1382=)
c.912G>A (p.Gln304=)
c.774G>A (p.Gln258=)
c.3336G>A (p.Gln1112=)
c.4101G>A (p.Gln1367=)
c.4083G>A (p.Gln1361=)
c.789G>A (p.Gln263=)
c.834G>A (p.Gln278=)
c.545G>A
c.798G>A (p.Gln266=)
c.*4007G>A (n.*4007G>A)
c.518G>A
c.915G>A (p.Gln305=)
c.537G>A (p.Gln179=)
c.540G>A (p.Gln180=)
c.5-18586G>A (n.5-18586G>A)
c.-43-8016G>A (n.-43-8016G>A)
c.-98-32347G>A (n.-98-32347G>A)
n.118G>A
n.4360G>A
n.4401G>A
 dbSNP
17g.43082538T>ACA10593276BRCA1c.4223A>T (p.Gln1408Leu)
c.4097A>T (p.Gln1366Leu)
c.4217A>T (p.Gln1406Leu)
c.4145A>T (p.Gln1382Leu)
c.911A>T (p.Gln304Leu)
c.773A>T (p.Gln258Leu)
c.3335A>T (p.Gln1112Leu)
c.4100A>T (p.Gln1367Leu)
c.4082A>T (p.Gln1361Leu)
c.788A>T (p.Gln263Leu)
c.833A>T (p.Gln278Leu)
c.544A>T
c.797A>T (p.Gln266Leu)
c.*4006A>T (n.*4006A>T)
c.517A>T
c.914A>T (p.Gln305Leu)
c.536A>T (p.Gln179Leu)
c.539A>T (p.Gln180Leu)
c.5-18587A>T (n.5-18587A>T)
c.-43-8017A>T (n.-43-8017A>T)
c.-98-32348A>T (n.-98-32348A>T)
n.117A>T
n.4359A>T
n.4400A>T
17g.43082538T>CCA10593277BRCA1c.4223A>G (p.Gln1408Arg)
c.4097A>G (p.Gln1366Arg)
c.4217A>G (p.Gln1406Arg)
c.4145A>G (p.Gln1382Arg)
c.911A>G (p.Gln304Arg)
c.773A>G (p.Gln258Arg)
c.3335A>G (p.Gln1112Arg)
c.4100A>G (p.Gln1367Arg)
c.4082A>G (p.Gln1361Arg)
c.788A>G (p.Gln263Arg)
c.833A>G (p.Gln278Arg)
c.544A>G
c.797A>G (p.Gln266Arg)
c.*4006A>G (n.*4006A>G)
c.517A>G
c.914A>G (p.Gln305Arg)
c.536A>G (p.Gln179Arg)
c.539A>G (p.Gln180Arg)
c.5-18587A>G (n.5-18587A>G)
c.-43-8017A>G (n.-43-8017A>G)
c.-98-32348A>G (n.-98-32348A>G)
n.117A>G
n.4359A>G
n.4400A>G
 ClinVar dbSNP
17g.43082538T>GCA10593278BRCA1c.4223A>C (p.Gln1408Pro)
c.4097A>C (p.Gln1366Pro)
c.4217A>C (p.Gln1406Pro)
c.4145A>C (p.Gln1382Pro)
c.911A>C (p.Gln304Pro)
c.773A>C (p.Gln258Pro)
c.3335A>C (p.Gln1112Pro)
c.4100A>C (p.Gln1367Pro)
c.4082A>C (p.Gln1361Pro)
c.788A>C (p.Gln263Pro)
c.833A>C (p.Gln278Pro)
c.544A>C
c.797A>C (p.Gln266Pro)
c.*4006A>C (n.*4006A>C)
c.517A>C
c.914A>C (p.Gln305Pro)
c.536A>C (p.Gln179Pro)
c.539A>C (p.Gln180Pro)
c.5-18587A>C (n.5-18587A>C)
c.-43-8017A>C (n.-43-8017A>C)
c.-98-32348A>C (n.-98-32348A>C)
n.117A>C
n.4359A>C
n.4400A>C
 ClinVar dbSNP gnomAD v4
17g.43082538T=CA2260778058BRCA1c.4223A= (p.Gln1408=)
c.4097A= (p.Gln1366=)
c.4217A= (p.Gln1406=)
c.4145A= (p.Gln1382=)
c.911A= (p.Gln304=)
c.773A= (p.Gln258=)
c.3335A= (p.Gln1112=)
c.4100A= (p.Gln1367=)
c.4082A= (p.Gln1361=)
c.788A= (p.Gln263=)
c.833A= (p.Gln278=)
c.544A=
c.797A= (p.Gln266=)
c.*4006A= (n.*4006A=)
c.517A=
c.914A= (p.Gln305=)
c.536A= (p.Gln179=)
c.539A= (p.Gln180=)
c.5-18587A= (n.5-18587A=)
c.-43-8017A= (n.-43-8017A=)
c.-98-32348A= (n.-98-32348A=)
n.117A=
n.4359A=
n.4400A=
17g.43082539G>ACA002719BRCA1c.4222C>T (p.Gln1408Ter)
c.4096C>T (p.Gln1366Ter)
c.4216C>T (p.Gln1406Ter)
c.4144C>T (p.Gln1382Ter)
c.910C>T (p.Gln304Ter)
c.772C>T (p.Gln258Ter)
c.3334C>T (p.Gln1112Ter)
c.4099C>T (p.Gln1367Ter)
c.4081C>T (p.Gln1361Ter)
c.787C>T (p.Gln263Ter)
c.832C>T (p.Gln278Ter)
c.543C>T
c.796C>T (p.Gln266Ter)
c.*4005C>T (n.*4005C>T)
c.516C>T
c.913C>T (p.Gln305Ter)
c.535C>T (p.Gln179Ter)
c.538C>T (p.Gln180Ter)
c.5-18588C>T (n.5-18588C>T)
c.-43-8018C>T (n.-43-8018C>T)
c.-98-32349C>T (n.-98-32349C>T)
n.116C>T
n.4358C>T
n.4399C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082539G>CCA10593279BRCA1c.4222C>G (p.Gln1408Glu)
c.4096C>G (p.Gln1366Glu)
c.4216C>G (p.Gln1406Glu)
c.4144C>G (p.Gln1382Glu)
c.910C>G (p.Gln304Glu)
c.772C>G (p.Gln258Glu)
c.3334C>G (p.Gln1112Glu)
c.4099C>G (p.Gln1367Glu)
c.4081C>G (p.Gln1361Glu)
c.787C>G (p.Gln263Glu)
c.832C>G (p.Gln278Glu)
c.543C>G
c.796C>G (p.Gln266Glu)
c.*4005C>G (n.*4005C>G)
c.516C>G
c.913C>G (p.Gln305Glu)
c.535C>G (p.Gln179Glu)
c.538C>G (p.Gln180Glu)
c.5-18588C>G (n.5-18588C>G)
c.-43-8018C>G (n.-43-8018C>G)
c.-98-32349C>G (n.-98-32349C>G)
n.116C>G
n.4358C>G
n.4399C>G
 dbSNP
17g.43082539G=CA2260778059BRCA1c.4222C= (p.Gln1408=)
c.4096C= (p.Gln1366=)
c.4216C= (p.Gln1406=)
c.4144C= (p.Gln1382=)
c.910C= (p.Gln304=)
c.772C= (p.Gln258=)
c.3334C= (p.Gln1112=)
c.4099C= (p.Gln1367=)
c.4081C= (p.Gln1361=)
c.787C= (p.Gln263=)
c.832C= (p.Gln278=)
c.543C=
c.796C= (p.Gln266=)
c.*4005C= (n.*4005C=)
c.516C=
c.913C= (p.Gln305=)
c.535C= (p.Gln179=)
c.538C= (p.Gln180=)
c.5-18588C= (n.5-18588C=)
c.-43-8018C= (n.-43-8018C=)
c.-98-32349C= (n.-98-32349C=)
n.116C=
n.4358C=
n.4399C=
17g.43082539G>TCA10593280BRCA1c.4222C>A (p.Gln1408Lys)
c.4096C>A (p.Gln1366Lys)
c.4216C>A (p.Gln1406Lys)
c.4144C>A (p.Gln1382Lys)
c.910C>A (p.Gln304Lys)
c.772C>A (p.Gln258Lys)
c.3334C>A (p.Gln1112Lys)
c.4099C>A (p.Gln1367Lys)
c.4081C>A (p.Gln1361Lys)
c.787C>A (p.Gln263Lys)
c.832C>A (p.Gln278Lys)
c.543C>A
c.796C>A (p.Gln266Lys)
c.*4005C>A (n.*4005C>A)
c.516C>A
c.913C>A (p.Gln305Lys)
c.535C>A (p.Gln179Lys)
c.538C>A (p.Gln180Lys)
c.5-18588C>A (n.5-18588C>A)
c.-43-8018C>A (n.-43-8018C>A)
c.-98-32349C>A (n.-98-32349C>A)
n.116C>A
n.4358C>A
n.4399C>A
 dbSNP
17g.43082540G>ACA500148419BRCA1c.4221C>T (p.Leu1407=)
c.4095C>T (p.Leu1365=)
c.4215C>T (p.Leu1405=)
c.4143C>T (p.Leu1381=)
c.909C>T (p.Leu303=)
c.771C>T (p.Leu257=)
c.3333C>T (p.Leu1111=)
c.4098C>T (p.Leu1366=)
c.4080C>T (p.Leu1360=)
c.786C>T (p.Leu262=)
c.831C>T (p.Leu277=)
c.542C>T
c.795C>T (p.Leu265=)
c.*4004C>T (n.*4004C>T)
c.515C>T
c.912C>T (p.Leu304=)
c.534C>T (p.Leu178=)
c.537C>T (p.Leu179=)
c.5-18589C>T (n.5-18589C>T)
c.-43-8019C>T (n.-43-8019C>T)
c.-98-32350C>T (n.-98-32350C>T)
n.115C>T
n.4357C>T
n.4398C>T
 dbSNP
17g.43082540G>CCA500148420BRCA1c.4221C>G (p.Leu1407=)
c.4095C>G (p.Leu1365=)
c.4215C>G (p.Leu1405=)
c.4143C>G (p.Leu1381=)
c.909C>G (p.Leu303=)
c.771C>G (p.Leu257=)
c.3333C>G (p.Leu1111=)
c.4098C>G (p.Leu1366=)
c.4080C>G (p.Leu1360=)
c.786C>G (p.Leu262=)
c.831C>G (p.Leu277=)
c.542C>G
c.795C>G (p.Leu265=)
c.*4004C>G (n.*4004C>G)
c.515C>G
c.912C>G (p.Leu304=)
c.534C>G (p.Leu178=)
c.537C>G (p.Leu179=)
c.5-18589C>G (n.5-18589C>G)
c.-43-8019C>G (n.-43-8019C>G)
c.-98-32350C>G (n.-98-32350C>G)
n.115C>G
n.4357C>G
n.4398C>G
 dbSNP
17g.43082540G>TCA500148421BRCA1c.4221C>A (p.Leu1407=)
c.4095C>A (p.Leu1365=)
c.4215C>A (p.Leu1405=)
c.4143C>A (p.Leu1381=)
c.909C>A (p.Leu303=)
c.771C>A (p.Leu257=)
c.3333C>A (p.Leu1111=)
c.4098C>A (p.Leu1366=)
c.4080C>A (p.Leu1360=)
c.786C>A (p.Leu262=)
c.831C>A (p.Leu277=)
c.542C>A
c.795C>A (p.Leu265=)
c.*4004C>A (n.*4004C>A)
c.515C>A
c.912C>A (p.Leu304=)
c.534C>A (p.Leu178=)
c.537C>A (p.Leu179=)
c.5-18589C>A (n.5-18589C>A)
c.-43-8019C>A (n.-43-8019C>A)
c.-98-32350C>A (n.-98-32350C>A)
n.115C>A
n.4357C>A
n.4398C>A
17g.43082541A=CA2260778060BRCA1c.4220T= (p.Leu1407=)
c.4094T= (p.Leu1365=)
c.4214T= (p.Leu1405=)
c.4142T= (p.Leu1381=)
c.908T= (p.Leu303=)
c.770T= (p.Leu257=)
c.3332T= (p.Leu1111=)
c.4097T= (p.Leu1366=)
c.4079T= (p.Leu1360=)
c.785T= (p.Leu262=)
c.830T= (p.Leu277=)
c.541T=
c.794T= (p.Leu265=)
c.*4003T= (n.*4003T=)
c.514T=
c.911T= (p.Leu304=)
c.533T= (p.Leu178=)
c.536T= (p.Leu179=)
c.5-18590T= (n.5-18590T=)
c.-43-8020T= (n.-43-8020T=)
c.-98-32351T= (n.-98-32351T=)
n.114T=
n.4356T=
n.4397T=
17g.43082541A>CCA10593281BRCA1c.4220T>G (p.Leu1407Arg)
c.4094T>G (p.Leu1365Arg)
c.4214T>G (p.Leu1405Arg)
c.4142T>G (p.Leu1381Arg)
c.908T>G (p.Leu303Arg)
c.770T>G (p.Leu257Arg)
c.3332T>G (p.Leu1111Arg)
c.4097T>G (p.Leu1366Arg)
c.4079T>G (p.Leu1360Arg)
c.785T>G (p.Leu262Arg)
c.830T>G (p.Leu277Arg)
c.541T>G
c.794T>G (p.Leu265Arg)
c.*4003T>G (n.*4003T>G)
c.514T>G
c.911T>G (p.Leu304Arg)
c.533T>G (p.Leu178Arg)
c.536T>G (p.Leu179Arg)
c.5-18590T>G (n.5-18590T>G)
c.-43-8020T>G (n.-43-8020T>G)
c.-98-32351T>G (n.-98-32351T>G)
n.114T>G
n.4356T>G
n.4397T>G
 ClinVar dbSNP
17g.43082541A>GCA002718BRCA1c.4220T>C (p.Leu1407Pro)
c.4094T>C (p.Leu1365Pro)
c.4214T>C (p.Leu1405Pro)
c.4142T>C (p.Leu1381Pro)
c.908T>C (p.Leu303Pro)
c.770T>C (p.Leu257Pro)
c.3332T>C (p.Leu1111Pro)
c.4097T>C (p.Leu1366Pro)
c.4079T>C (p.Leu1360Pro)
c.785T>C (p.Leu262Pro)
c.830T>C (p.Leu277Pro)
c.541T>C
c.794T>C (p.Leu265Pro)
c.*4003T>C (n.*4003T>C)
c.514T>C
c.911T>C (p.Leu304Pro)
c.533T>C (p.Leu178Pro)
c.536T>C (p.Leu179Pro)
c.5-18590T>C (n.5-18590T>C)
c.-43-8020T>C (n.-43-8020T>C)
c.-98-32351T>C (n.-98-32351T>C)
n.114T>C
n.4356T>C
n.4397T>C
 ClinVar dbSNP
17g.43082541A>TCA059665BRCA1c.4220T>A (p.Leu1407His)
c.4094T>A (p.Leu1365His)
c.4214T>A (p.Leu1405His)
c.4142T>A (p.Leu1381His)
c.908T>A (p.Leu303His)
c.770T>A (p.Leu257His)
c.3332T>A (p.Leu1111His)
c.4097T>A (p.Leu1366His)
c.4079T>A (p.Leu1360His)
c.785T>A (p.Leu262His)
c.830T>A (p.Leu277His)
c.541T>A
c.794T>A (p.Leu265His)
c.*4003T>A (n.*4003T>A)
c.514T>A
c.911T>A (p.Leu304His)
c.533T>A (p.Leu178His)
c.536T>A (p.Leu179His)
c.5-18590T>A (n.5-18590T>A)
c.-43-8020T>A (n.-43-8020T>A)
c.-98-32351T>A (n.-98-32351T>A)
n.114T>A
n.4356T>A
n.4397T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082542G>ACA10593282BRCA1c.4219C>T (p.Leu1407Phe)
c.4093C>T (p.Leu1365Phe)
c.4213C>T (p.Leu1405Phe)
c.4141C>T (p.Leu1381Phe)
c.907C>T (p.Leu303Phe)
c.769C>T (p.Leu257Phe)
c.3331C>T (p.Leu1111Phe)
c.4096C>T (p.Leu1366Phe)
c.4078C>T (p.Leu1360Phe)
c.784C>T (p.Leu262Phe)
c.829C>T (p.Leu277Phe)
c.540C>T
c.793C>T (p.Leu265Phe)
c.*4002C>T (n.*4002C>T)
c.513C>T
c.910C>T (p.Leu304Phe)
c.532C>T (p.Leu178Phe)
c.535C>T (p.Leu179Phe)
c.5-18591C>T (n.5-18591C>T)
c.-43-8021C>T (n.-43-8021C>T)
c.-98-32352C>T (n.-98-32352C>T)
n.113C>T
n.4355C>T
n.4396C>T
 dbSNP
17g.43082542G>CCA002717BRCA1c.4219C>G (p.Leu1407Val)
c.4093C>G (p.Leu1365Val)
c.4213C>G (p.Leu1405Val)
c.4141C>G (p.Leu1381Val)
c.907C>G (p.Leu303Val)
c.769C>G (p.Leu257Val)
c.3331C>G (p.Leu1111Val)
c.4096C>G (p.Leu1366Val)
c.4078C>G (p.Leu1360Val)
c.784C>G (p.Leu262Val)
c.829C>G (p.Leu277Val)
c.540C>G
c.793C>G (p.Leu265Val)
c.*4002C>G (n.*4002C>G)
c.513C>G
c.910C>G (p.Leu304Val)
c.532C>G (p.Leu178Val)
c.535C>G (p.Leu179Val)
c.5-18591C>G (n.5-18591C>G)
c.-43-8021C>G (n.-43-8021C>G)
c.-98-32352C>G (n.-98-32352C>G)
n.113C>G
n.4355C>G
n.4396C>G
 ClinVar dbSNP
17g.43082542G=CA2260778061BRCA1c.4219C= (p.Leu1407=)
c.4093C= (p.Leu1365=)
c.4213C= (p.Leu1405=)
c.4141C= (p.Leu1381=)
c.907C= (p.Leu303=)
c.769C= (p.Leu257=)
c.3331C= (p.Leu1111=)
c.4096C= (p.Leu1366=)
c.4078C= (p.Leu1360=)
c.784C= (p.Leu262=)
c.829C= (p.Leu277=)
c.540C=
c.793C= (p.Leu265=)
c.*4002C= (n.*4002C=)
c.513C=
c.910C= (p.Leu304=)
c.532C= (p.Leu178=)
c.535C= (p.Leu179=)
c.5-18591C= (n.5-18591C=)
c.-43-8021C= (n.-43-8021C=)
c.-98-32352C= (n.-98-32352C=)
n.113C=
n.4355C=
n.4396C=
17g.43082542G>TCA10593283BRCA1c.4219C>A (p.Leu1407Ile)
c.4093C>A (p.Leu1365Ile)
c.4213C>A (p.Leu1405Ile)
c.4141C>A (p.Leu1381Ile)
c.907C>A (p.Leu303Ile)
c.769C>A (p.Leu257Ile)
c.3331C>A (p.Leu1111Ile)
c.4096C>A (p.Leu1366Ile)
c.4078C>A (p.Leu1360Ile)
c.784C>A (p.Leu262Ile)
c.829C>A (p.Leu277Ile)
c.540C>A
c.793C>A (p.Leu265Ile)
c.*4002C>A (n.*4002C>A)
c.513C>A
c.910C>A (p.Leu304Ile)
c.532C>A (p.Leu178Ile)
c.535C>A (p.Leu179Ile)
c.5-18591C>A (n.5-18591C>A)
c.-43-8021C>A (n.-43-8021C>A)
c.-98-32352C>A (n.-98-32352C>A)
n.113C>A
n.4355C>A
n.4396C>A
17g.43082542_43082543delinsGCCA2260778062BRCA1c.4218_4219delinsGC (p.Lys1406=)
c.4092_4093delinsGC (p.Lys1364=)
c.4212_4213delinsGC (p.Lys1404=)
c.4140_4141delinsGC (p.Lys1380=)
c.906_907delinsGC (p.Lys302=)
c.768_769delinsGC (p.Lys256=)
c.3330_3331delinsGC (p.Lys1110=)
c.4095_4096delinsGC (p.Lys1365=)
c.4077_4078delinsGC (p.Lys1359=)
c.783_784delinsGC (p.Lys261=)
c.828_829delinsGC (p.Lys276=)
c.539_540delinsGC
c.792_793delinsGC (p.Lys264=)
c.*4001_*4002delinsGC (n.*4001_*4002delinsGC)
c.512_513delinsGC
c.909_910delinsGC (p.Lys303=)
c.531_532delinsGC (p.Lys177=)
c.534_535delinsGC (p.Lys178=)
c.5-18592_5-18591delinsGC (n.5-18592_5-18591delinsGC)
c.-43-8022_-43-8021delinsGC (n.-43-8022_-43-8021delinsGC)
c.-98-32353_-98-32352delinsGC (n.-98-32353_-98-32352delinsGC)
n.112_113delinsGC
n.4354_4355delinsGC
n.4395_4396delinsGC
17g.43082543delCA10589678BRCA1c.4218del (p.Lys1406AsnfsTer9)
c.4092del (p.Lys1364AsnfsTer9)
c.4212del (p.Lys1404AsnfsTer9)
c.4140del (p.Lys1380AsnfsTer9)
c.906del (p.Lys302AsnfsTer9)
c.768del (p.Lys256AsnfsTer9)
c.3330del (p.Lys1110AsnfsTer9)
c.4095del (p.Lys1365AsnfsTer9)
c.4077del (p.Lys1359AsnfsTer9)
c.783del (p.Lys261AsnfsTer9)
c.828del (p.Lys276AsnfsTer9)
c.539del
c.792del (p.Lys264AsnfsTer9)
c.*4001del (n.*4001del)
c.512del
c.909del (p.Lys303AsnfsTer9)
c.531del (p.Lys177AsnfsTer9)
c.534del (p.Lys178AsnfsTer9)
c.5-18592del (n.5-18592del)
c.-43-8022del (n.-43-8022del)
c.-98-32353del (n.-98-32353del)
n.112del
n.4354del
n.4395del
 ClinVar dbSNP
17g.43082543C>ACA10593284BRCA1c.4218G>T (p.Lys1406Asn)
c.4092G>T (p.Lys1364Asn)
c.4212G>T (p.Lys1404Asn)
c.4140G>T (p.Lys1380Asn)
c.906G>T (p.Lys302Asn)
c.768G>T (p.Lys256Asn)
c.3330G>T (p.Lys1110Asn)
c.4095G>T (p.Lys1365Asn)
c.4077G>T (p.Lys1359Asn)
c.783G>T (p.Lys261Asn)
c.828G>T (p.Lys276Asn)
c.539G>T
c.792G>T (p.Lys264Asn)
c.*4001G>T (n.*4001G>T)
c.512G>T
c.909G>T (p.Lys303Asn)
c.531G>T (p.Lys177Asn)
c.534G>T (p.Lys178Asn)
c.5-18592G>T (n.5-18592G>T)
c.-43-8022G>T (n.-43-8022G>T)
c.-98-32353G>T (n.-98-32353G>T)
n.112G>T
n.4354G>T
n.4395G>T
 ClinVar dbSNP gnomAD v4
17g.43082543C=CA2260778063BRCA1c.4218G= (p.Lys1406=)
c.4092G= (p.Lys1364=)
c.4212G= (p.Lys1404=)
c.4140G= (p.Lys1380=)
c.906G= (p.Lys302=)
c.768G= (p.Lys256=)
c.3330G= (p.Lys1110=)
c.4095G= (p.Lys1365=)
c.4077G= (p.Lys1359=)
c.783G= (p.Lys261=)
c.828G= (p.Lys276=)
c.539G=
c.792G= (p.Lys264=)
c.*4001G= (n.*4001G=)
c.512G=
c.909G= (p.Lys303=)
c.531G= (p.Lys177=)
c.534G= (p.Lys178=)
c.5-18592G= (n.5-18592G=)
c.-43-8022G= (n.-43-8022G=)
c.-98-32353G= (n.-98-32353G=)
n.112G=
n.4354G=
n.4395G=
17g.43082543C>GCA10593285BRCA1c.4218G>C (p.Lys1406Asn)
c.4092G>C (p.Lys1364Asn)
c.4212G>C (p.Lys1404Asn)
c.4140G>C (p.Lys1380Asn)
c.906G>C (p.Lys302Asn)
c.768G>C (p.Lys256Asn)
c.3330G>C (p.Lys1110Asn)
c.4095G>C (p.Lys1365Asn)
c.4077G>C (p.Lys1359Asn)
c.783G>C (p.Lys261Asn)
c.828G>C (p.Lys276Asn)
c.539G>C
c.792G>C (p.Lys264Asn)
c.*4001G>C (n.*4001G>C)
c.512G>C
c.909G>C (p.Lys303Asn)
c.531G>C (p.Lys177Asn)
c.534G>C (p.Lys178Asn)
c.5-18592G>C (n.5-18592G>C)
c.-43-8022G>C (n.-43-8022G>C)
c.-98-32353G>C (n.-98-32353G>C)
n.112G>C
n.4354G>C
n.4395G>C
 ClinVar
17g.43082543C>TCA500148422BRCA1c.4218G>A (p.Lys1406=)
c.4092G>A (p.Lys1364=)
c.4212G>A (p.Lys1404=)
c.4140G>A (p.Lys1380=)
c.906G>A (p.Lys302=)
c.768G>A (p.Lys256=)
c.3330G>A (p.Lys1110=)
c.4095G>A (p.Lys1365=)
c.4077G>A (p.Lys1359=)
c.783G>A (p.Lys261=)
c.828G>A (p.Lys276=)
c.539G>A
c.792G>A (p.Lys264=)
c.*4001G>A (n.*4001G>A)
c.512G>A
c.909G>A (p.Lys303=)
c.531G>A (p.Lys177=)
c.534G>A (p.Lys178=)
c.5-18592G>A (n.5-18592G>A)
c.-43-8022G>A (n.-43-8022G>A)
c.-98-32353G>A (n.-98-32353G>A)
n.112G>A
n.4354G>A
n.4395G>A
 ClinVar dbSNP
17g.43082544T>ACA10593286BRCA1c.4217A>T (p.Lys1406Met)
c.4091A>T (p.Lys1364Met)
c.4211A>T (p.Lys1404Met)
c.4139A>T (p.Lys1380Met)
c.905A>T (p.Lys302Met)
c.767A>T (p.Lys256Met)
c.3329A>T (p.Lys1110Met)
c.4094A>T (p.Lys1365Met)
c.4076A>T (p.Lys1359Met)
c.782A>T (p.Lys261Met)
c.827A>T (p.Lys276Met)
c.538A>T
c.791A>T (p.Lys264Met)
c.*4000A>T (n.*4000A>T)
c.511A>T
c.908A>T (p.Lys303Met)
c.530A>T (p.Lys177Met)
c.533A>T (p.Lys178Met)
c.5-18593A>T (n.5-18593A>T)
c.-43-8023A>T (n.-43-8023A>T)
c.-98-32354A>T (n.-98-32354A>T)
n.111A>T
n.4353A>T
n.4394A>T
17g.43082544T>CCA10593287BRCA1c.4217A>G (p.Lys1406Arg)
c.4091A>G (p.Lys1364Arg)
c.4211A>G (p.Lys1404Arg)
c.4139A>G (p.Lys1380Arg)
c.905A>G (p.Lys302Arg)
c.767A>G (p.Lys256Arg)
c.3329A>G (p.Lys1110Arg)
c.4094A>G (p.Lys1365Arg)
c.4076A>G (p.Lys1359Arg)
c.782A>G (p.Lys261Arg)
c.827A>G (p.Lys276Arg)
c.538A>G
c.791A>G (p.Lys264Arg)
c.*4000A>G (n.*4000A>G)
c.511A>G
c.908A>G (p.Lys303Arg)
c.530A>G (p.Lys177Arg)
c.533A>G (p.Lys178Arg)
c.5-18593A>G (n.5-18593A>G)
c.-43-8023A>G (n.-43-8023A>G)
c.-98-32354A>G (n.-98-32354A>G)
n.111A>G
n.4353A>G
n.4394A>G
17g.43082544T>GCA10593288BRCA1c.4217A>C (p.Lys1406Thr)
c.4091A>C (p.Lys1364Thr)
c.4211A>C (p.Lys1404Thr)
c.4139A>C (p.Lys1380Thr)
c.905A>C (p.Lys302Thr)
c.767A>C (p.Lys256Thr)
c.3329A>C (p.Lys1110Thr)
c.4094A>C (p.Lys1365Thr)
c.4076A>C (p.Lys1359Thr)
c.782A>C (p.Lys261Thr)
c.827A>C (p.Lys276Thr)
c.538A>C
c.791A>C (p.Lys264Thr)
c.*4000A>C (n.*4000A>C)
c.511A>C
c.908A>C (p.Lys303Thr)
c.530A>C (p.Lys177Thr)
c.533A>C (p.Lys178Thr)
c.5-18593A>C (n.5-18593A>C)
c.-43-8023A>C (n.-43-8023A>C)
c.-98-32354A>C (n.-98-32354A>C)
n.111A>C
n.4353A>C
n.4394A>C
 ClinVar dbSNP
17g.43082546dupCA2573154029BRCA1c.4217dup (p.Leu1407AlafsTer7)
c.4091dup (p.Leu1365AlafsTer7)
c.4211dup (p.Leu1405AlafsTer7)
c.4139dup (p.Leu1381AlafsTer7)
c.905dup (p.Leu303AlafsTer7)
c.767dup (p.Leu257AlafsTer7)
c.3329dup (p.Leu1111AlafsTer7)
c.4094dup (p.Leu1366AlafsTer7)
c.4076dup (p.Leu1360AlafsTer7)
c.782dup (p.Leu262AlafsTer7)
c.827dup (p.Leu277AlafsTer7)
c.538dup
c.791dup (p.Leu265AlafsTer7)
c.*4000dup (n.*4000dup)
c.511dup
c.908dup (p.Leu304AlafsTer7)
c.530dup (p.Leu178AlafsTer7)
c.533dup (p.Leu179AlafsTer7)
c.5-18593dup (n.5-18593dup)
c.-43-8023dup (n.-43-8023dup)
c.-98-32354dup (n.-98-32354dup)
n.111dup
n.4353dup
n.4394dup
 ClinVar dbSNP
17g.43082545T>ACA10589679BRCA1c.4216A>T (p.Lys1406Ter)
c.4090A>T (p.Lys1364Ter)
c.4210A>T (p.Lys1404Ter)
c.4138A>T (p.Lys1380Ter)
c.904A>T (p.Lys302Ter)
c.766A>T (p.Lys256Ter)
c.3328A>T (p.Lys1110Ter)
c.4093A>T (p.Lys1365Ter)
c.4075A>T (p.Lys1359Ter)
c.781A>T (p.Lys261Ter)
c.826A>T (p.Lys276Ter)
c.537A>T
c.790A>T (p.Lys264Ter)
c.*3999A>T (n.*3999A>T)
c.510A>T
c.907A>T (p.Lys303Ter)
c.529A>T (p.Lys177Ter)
c.532A>T (p.Lys178Ter)
c.5-18594A>T (n.5-18594A>T)
c.-43-8024A>T (n.-43-8024A>T)
c.-98-32355A>T (n.-98-32355A>T)
n.110A>T
n.4352A>T
n.4393A>T
 ClinVar dbSNP
17g.43082545T>CCA10593289BRCA1c.4216A>G (p.Lys1406Glu)
c.4090A>G (p.Lys1364Glu)
c.4210A>G (p.Lys1404Glu)
c.4138A>G (p.Lys1380Glu)
c.904A>G (p.Lys302Glu)
c.766A>G (p.Lys256Glu)
c.3328A>G (p.Lys1110Glu)
c.4093A>G (p.Lys1365Glu)
c.4075A>G (p.Lys1359Glu)
c.781A>G (p.Lys261Glu)
c.826A>G (p.Lys276Glu)
c.537A>G
c.790A>G (p.Lys264Glu)
c.*3999A>G (n.*3999A>G)
c.510A>G
c.907A>G (p.Lys303Glu)
c.529A>G (p.Lys177Glu)
c.532A>G (p.Lys178Glu)
c.5-18594A>G (n.5-18594A>G)
c.-43-8024A>G (n.-43-8024A>G)
c.-98-32355A>G (n.-98-32355A>G)
n.110A>G
n.4352A>G
n.4393A>G
17g.43082545T>GCA10593290BRCA1c.4216A>C (p.Lys1406Gln)
c.4090A>C (p.Lys1364Gln)
c.4210A>C (p.Lys1404Gln)
c.4138A>C (p.Lys1380Gln)
c.904A>C (p.Lys302Gln)
c.766A>C (p.Lys256Gln)
c.3328A>C (p.Lys1110Gln)
c.4093A>C (p.Lys1365Gln)
c.4075A>C (p.Lys1359Gln)
c.781A>C (p.Lys261Gln)
c.826A>C (p.Lys276Gln)
c.537A>C
c.790A>C (p.Lys264Gln)
c.*3999A>C (n.*3999A>C)
c.510A>C
c.907A>C (p.Lys303Gln)
c.529A>C (p.Lys177Gln)
c.532A>C (p.Lys178Gln)
c.5-18594A>C (n.5-18594A>C)
c.-43-8024A>C (n.-43-8024A>C)
c.-98-32355A>C (n.-98-32355A>C)
n.110A>C
n.4352A>C
n.4393A>C
 ClinVar
17g.43082545T=CA2260778064BRCA1c.4216A= (p.Lys1406=)
c.4090A= (p.Lys1364=)
c.4210A= (p.Lys1404=)
c.4138A= (p.Lys1380=)
c.904A= (p.Lys302=)
c.766A= (p.Lys256=)
c.3328A= (p.Lys1110=)
c.4093A= (p.Lys1365=)
c.4075A= (p.Lys1359=)
c.781A= (p.Lys261=)
c.826A= (p.Lys276=)
c.537A=
c.790A= (p.Lys264=)
c.*3999A= (n.*3999A=)
c.510A=
c.907A= (p.Lys303=)
c.529A= (p.Lys177=)
c.532A= (p.Lys178=)
c.5-18594A= (n.5-18594A=)
c.-43-8024A= (n.-43-8024A=)
c.-98-32355A= (n.-98-32355A=)
n.110A=
n.4352A=
n.4393A=
17g.43082546T>ACA500148423BRCA1c.4215A>T (p.Ile1405=)
c.4089A>T (p.Ile1363=)
c.4209A>T (p.Ile1403=)
c.4137A>T (p.Ile1379=)
c.903A>T (p.Ile301=)
c.765A>T (p.Ile255=)
c.3327A>T (p.Ile1109=)
c.4092A>T (p.Ile1364=)
c.4074A>T (p.Ile1358=)
c.780A>T (p.Ile260=)
c.825A>T (p.Ile275=)
c.536A>T
c.789A>T (p.Ile263=)
c.*3998A>T (n.*3998A>T)
c.509A>T
c.906A>T (p.Ile302=)
c.528A>T (p.Ile176=)
c.531A>T (p.Ile177=)
c.5-18595A>T (n.5-18595A>T)
c.-43-8025A>T (n.-43-8025A>T)
c.-98-32356A>T (n.-98-32356A>T)
n.109A>T
n.4351A>T
n.4392A>T
 ClinVar dbSNP
17g.43082546T>CCA10593291BRCA1c.4215A>G (p.Ile1405Met)
c.4089A>G (p.Ile1363Met)
c.4209A>G (p.Ile1403Met)
c.4137A>G (p.Ile1379Met)
c.903A>G (p.Ile301Met)
c.765A>G (p.Ile255Met)
c.3327A>G (p.Ile1109Met)
c.4092A>G (p.Ile1364Met)
c.4074A>G (p.Ile1358Met)
c.780A>G (p.Ile260Met)
c.825A>G (p.Ile275Met)
c.536A>G
c.789A>G (p.Ile263Met)
c.*3998A>G (n.*3998A>G)
c.509A>G
c.906A>G (p.Ile302Met)
c.528A>G (p.Ile176Met)
c.531A>G (p.Ile177Met)
c.5-18595A>G (n.5-18595A>G)
c.-43-8025A>G (n.-43-8025A>G)
c.-98-32356A>G (n.-98-32356A>G)
n.109A>G
n.4351A>G
n.4392A>G
17g.43082546T>GCA500148424BRCA1c.4215A>C (p.Ile1405=)
c.4089A>C (p.Ile1363=)
c.4209A>C (p.Ile1403=)
c.4137A>C (p.Ile1379=)
c.903A>C (p.Ile301=)
c.765A>C (p.Ile255=)
c.3327A>C (p.Ile1109=)
c.4092A>C (p.Ile1364=)
c.4074A>C (p.Ile1358=)
c.780A>C (p.Ile260=)
c.825A>C (p.Ile275=)
c.536A>C
c.789A>C (p.Ile263=)
c.*3998A>C (n.*3998A>C)
c.509A>C
c.906A>C (p.Ile302=)
c.528A>C (p.Ile176=)
c.531A>C (p.Ile177=)
c.5-18595A>C (n.5-18595A>C)
c.-43-8025A>C (n.-43-8025A>C)
c.-98-32356A>C (n.-98-32356A>C)
n.109A>C
n.4351A>C
n.4392A>C
17g.43082546T=CA2260778066BRCA1c.4215A= (p.Ile1405=)
c.4089A= (p.Ile1363=)
c.4209A= (p.Ile1403=)
c.4137A= (p.Ile1379=)
c.903A= (p.Ile301=)
c.765A= (p.Ile255=)
c.3327A= (p.Ile1109=)
c.4092A= (p.Ile1364=)
c.4074A= (p.Ile1358=)
c.780A= (p.Ile260=)
c.825A= (p.Ile275=)
c.536A=
c.789A= (p.Ile263=)
c.*3998A= (n.*3998A=)
c.509A=
c.906A= (p.Ile302=)
c.528A= (p.Ile176=)
c.531A= (p.Ile177=)
c.5-18595A= (n.5-18595A=)
c.-43-8025A= (n.-43-8025A=)
c.-98-32356A= (n.-98-32356A=)
n.109A=
n.4351A=
n.4392A=
17g.43082546_43082547delinsTACA2260778065BRCA1c.4214_4215delinsTA (p.Ile1405=)
c.4088_4089delinsTA (p.Ile1363=)
c.4208_4209delinsTA (p.Ile1403=)
c.4136_4137delinsTA (p.Ile1379=)
c.902_903delinsTA (p.Ile301=)
c.764_765delinsTA (p.Ile255=)
c.3326_3327delinsTA (p.Ile1109=)
c.4091_4092delinsTA (p.Ile1364=)
c.4073_4074delinsTA (p.Ile1358=)
c.779_780delinsTA (p.Ile260=)
c.824_825delinsTA (p.Ile275=)
c.535_536delinsTA
c.788_789delinsTA (p.Ile263=)
c.*3997_*3998delinsTA (n.*3997_*3998delinsTA)
c.508_509delinsTA
c.905_906delinsTA (p.Ile302=)
c.527_528delinsTA (p.Ile176=)
c.530_531delinsTA (p.Ile177=)
c.5-18596_5-18595delinsTA (n.5-18596_5-18595delinsTA)
c.-43-8026_-43-8025delinsTA (n.-43-8026_-43-8025delinsTA)
c.-98-32357_-98-32356delinsTA (n.-98-32357_-98-32356delinsTA)
n.108_109delinsTA
n.4350_4351delinsTA
n.4391_4392delinsTA
17g.43082547delCA002715BRCA1c.4214del (p.Ile1405LysfsTer10)
c.4088del (p.Ile1363LysfsTer10)
c.4208del (p.Ile1403LysfsTer10)
c.4136del (p.Ile1379LysfsTer10)
c.902del (p.Ile301LysfsTer10)
c.764del (p.Ile255LysfsTer10)
c.3326del (p.Ile1109LysfsTer10)
c.4091del (p.Ile1364LysfsTer10)
c.4073del (p.Ile1358LysfsTer10)
c.779del (p.Ile260LysfsTer10)
c.824del (p.Ile275LysfsTer10)
c.535del
c.788del (p.Ile263LysfsTer10)
c.*3997del (n.*3997del)
c.508del
c.905del (p.Ile302LysfsTer10)
c.527del (p.Ile176LysfsTer10)
c.530del (p.Ile177LysfsTer10)
c.5-18596del (n.5-18596del)
c.-43-8026del (n.-43-8026del)
c.-98-32357del (n.-98-32357del)
n.108del
n.4350del
n.4391del
 ClinVar dbSNP
17g.43082547A>CCA10593292BRCA1c.4214T>G (p.Ile1405Arg)
c.4088T>G (p.Ile1363Arg)
c.4208T>G (p.Ile1403Arg)
c.4136T>G (p.Ile1379Arg)
c.902T>G (p.Ile301Arg)
c.764T>G (p.Ile255Arg)
c.3326T>G (p.Ile1109Arg)
c.4091T>G (p.Ile1364Arg)
c.4073T>G (p.Ile1358Arg)
c.779T>G (p.Ile260Arg)
c.824T>G (p.Ile275Arg)
c.535T>G
c.788T>G (p.Ile263Arg)
c.*3997T>G (n.*3997T>G)
c.508T>G
c.905T>G (p.Ile302Arg)
c.527T>G (p.Ile176Arg)
c.530T>G (p.Ile177Arg)
c.5-18596T>G (n.5-18596T>G)
c.-43-8026T>G (n.-43-8026T>G)
c.-98-32357T>G (n.-98-32357T>G)
n.108T>G
n.4350T>G
n.4391T>G
17g.43082547A>GCA10593293BRCA1c.4214T>C (p.Ile1405Thr)
c.4088T>C (p.Ile1363Thr)
c.4208T>C (p.Ile1403Thr)
c.4136T>C (p.Ile1379Thr)
c.902T>C (p.Ile301Thr)
c.764T>C (p.Ile255Thr)
c.3326T>C (p.Ile1109Thr)
c.4091T>C (p.Ile1364Thr)
c.4073T>C (p.Ile1358Thr)
c.779T>C (p.Ile260Thr)
c.824T>C (p.Ile275Thr)
c.535T>C
c.788T>C (p.Ile263Thr)
c.*3997T>C (n.*3997T>C)
c.508T>C
c.905T>C (p.Ile302Thr)
c.527T>C (p.Ile176Thr)
c.530T>C (p.Ile177Thr)
c.5-18596T>C (n.5-18596T>C)
c.-43-8026T>C (n.-43-8026T>C)
c.-98-32357T>C (n.-98-32357T>C)
n.108T>C
n.4350T>C
n.4391T>C
 gnomAD v4
17g.43082547A>TCA10593294BRCA1c.4214T>A (p.Ile1405Lys)
c.4088T>A (p.Ile1363Lys)
c.4208T>A (p.Ile1403Lys)
c.4136T>A (p.Ile1379Lys)
c.902T>A (p.Ile301Lys)
c.764T>A (p.Ile255Lys)
c.3326T>A (p.Ile1109Lys)
c.4091T>A (p.Ile1364Lys)
c.4073T>A (p.Ile1358Lys)
c.779T>A (p.Ile260Lys)
c.824T>A (p.Ile275Lys)
c.535T>A
c.788T>A (p.Ile263Lys)
c.*3997T>A (n.*3997T>A)
c.508T>A
c.905T>A (p.Ile302Lys)
c.527T>A (p.Ile176Lys)
c.530T>A (p.Ile177Lys)
c.5-18596T>A (n.5-18596T>A)
c.-43-8026T>A (n.-43-8026T>A)
c.-98-32357T>A (n.-98-32357T>A)
n.108T>A
n.4350T>A
n.4391T>A
 dbSNP
17g.43082547dupCA915950063BRCA1c.4214dup (p.Leu1407AlafsTer7)
c.4088dup (p.Leu1365AlafsTer7)
c.4208dup (p.Leu1405AlafsTer7)
c.4136dup (p.Leu1381AlafsTer7)
c.902dup (p.Leu303AlafsTer7)
c.764dup (p.Leu257AlafsTer7)
c.3326dup (p.Leu1111AlafsTer7)
c.4091dup (p.Leu1366AlafsTer7)
c.4073dup (p.Leu1360AlafsTer7)
c.779dup (p.Leu262AlafsTer7)
c.824dup (p.Leu277AlafsTer7)
c.535dup
c.788dup (p.Leu265AlafsTer7)
c.*3997dup (n.*3997dup)
c.508dup
c.905dup (p.Leu304AlafsTer7)
c.527dup (p.Leu178AlafsTer7)
c.530dup (p.Leu179AlafsTer7)
c.5-18596dup (n.5-18596dup)
c.-43-8026dup (n.-43-8026dup)
c.-98-32357dup (n.-98-32357dup)
n.108dup
n.4350dup
n.4391dup
 ClinVar dbSNP
17g.43082548T>ACA10593295BRCA1c.4213A>T (p.Ile1405Leu)
c.4087A>T (p.Ile1363Leu)
c.4207A>T (p.Ile1403Leu)
c.4135A>T (p.Ile1379Leu)
c.901A>T (p.Ile301Leu)
c.763A>T (p.Ile255Leu)
c.3325A>T (p.Ile1109Leu)
c.4090A>T (p.Ile1364Leu)
c.4072A>T (p.Ile1358Leu)
c.778A>T (p.Ile260Leu)
c.823A>T (p.Ile275Leu)
c.534A>T
c.787A>T (p.Ile263Leu)
c.*3996A>T (n.*3996A>T)
c.507A>T
c.904A>T (p.Ile302Leu)
c.526A>T (p.Ile176Leu)
c.529A>T (p.Ile177Leu)
c.5-18597A>T (n.5-18597A>T)
c.-43-8027A>T (n.-43-8027A>T)
c.-98-32358A>T (n.-98-32358A>T)
n.107A>T
n.4349A>T
n.4390A>T
 dbSNP
17g.43082548T>CCA002714BRCA1c.4213A>G (p.Ile1405Val)
c.4087A>G (p.Ile1363Val)
c.4207A>G (p.Ile1403Val)
c.4135A>G (p.Ile1379Val)
c.901A>G (p.Ile301Val)
c.763A>G (p.Ile255Val)
c.3325A>G (p.Ile1109Val)
c.4090A>G (p.Ile1364Val)
c.4072A>G (p.Ile1358Val)
c.778A>G (p.Ile260Val)
c.823A>G (p.Ile275Val)
c.534A>G
c.787A>G (p.Ile263Val)
c.*3996A>G (n.*3996A>G)
c.507A>G
c.904A>G (p.Ile302Val)
c.526A>G (p.Ile176Val)
c.529A>G (p.Ile177Val)
c.5-18597A>G (n.5-18597A>G)
c.-43-8027A>G (n.-43-8027A>G)
c.-98-32358A>G (n.-98-32358A>G)
n.107A>G
n.4349A>G
n.4390A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082548T>GCA10593296BRCA1c.4213A>C (p.Ile1405Leu)
c.4087A>C (p.Ile1363Leu)
c.4207A>C (p.Ile1403Leu)
c.4135A>C (p.Ile1379Leu)
c.901A>C (p.Ile301Leu)
c.763A>C (p.Ile255Leu)
c.3325A>C (p.Ile1109Leu)
c.4090A>C (p.Ile1364Leu)
c.4072A>C (p.Ile1358Leu)
c.778A>C (p.Ile260Leu)
c.823A>C (p.Ile275Leu)
c.534A>C
c.787A>C (p.Ile263Leu)
c.*3996A>C (n.*3996A>C)
c.507A>C
c.904A>C (p.Ile302Leu)
c.526A>C (p.Ile176Leu)
c.529A>C (p.Ile177Leu)
c.5-18597A>C (n.5-18597A>C)
c.-43-8027A>C (n.-43-8027A>C)
c.-98-32358A>C (n.-98-32358A>C)
n.107A>C
n.4349A>C
n.4390A>C
17g.43082548T=CA2260778067BRCA1c.4213A= (p.Ile1405=)
c.4087A= (p.Ile1363=)
c.4207A= (p.Ile1403=)
c.4135A= (p.Ile1379=)
c.901A= (p.Ile301=)
c.763A= (p.Ile255=)
c.3325A= (p.Ile1109=)
c.4090A= (p.Ile1364=)
c.4072A= (p.Ile1358=)
c.778A= (p.Ile260=)
c.823A= (p.Ile275=)
c.534A=
c.787A= (p.Ile263=)
c.*3996A= (n.*3996A=)
c.507A=
c.904A= (p.Ile302=)
c.526A= (p.Ile176=)
c.529A= (p.Ile177=)
c.5-18597A= (n.5-18597A=)
c.-43-8027A= (n.-43-8027A=)
c.-98-32358A= (n.-98-32358A=)
n.107A=
n.4349A=
n.4390A=
17g.43082548_43082570dupCA2580093814BRCA1c.4191_4213dup (p.Ile1405ArgfsTer8)
c.4065_4087dup (p.Ile1363ArgfsTer8)
c.4185_4207dup (p.Ile1403ArgfsTer8)
c.4113_4135dup (p.Ile1379ArgfsTer8)
c.879_901dup (p.Ile301ArgfsTer8)
c.741_763dup (p.Ile255ArgfsTer8)
c.3303_3325dup (p.Ile1109ArgfsTer8)
c.4068_4090dup (p.Ile1364ArgfsTer8)
c.4050_4072dup (p.Ile1358ArgfsTer8)
c.756_778dup (p.Ile260ArgfsTer8)
c.801_823dup (p.Ile275ArgfsTer8)
c.512_534dup
c.765_787dup (p.Ile263ArgfsTer8)
c.*3974_*3996dup (n.*3974_*3996dup)
c.485_507dup
c.882_904dup (p.Ile302ArgfsTer8)
c.504_526dup (p.Ile176ArgfsTer8)
c.507_529dup (p.Ile177ArgfsTer8)
c.5-18619_5-18597dup (n.5-18619_5-18597dup)
c.-43-8049_-43-8027dup (n.-43-8049_-43-8027dup)
c.-98-32380_-98-32358dup (n.-98-32380_-98-32358dup)
n.85_107dup
n.4327_4349dup
n.4368_4390dup
 ClinVar
17g.43082549C>ACA500148425BRCA1c.4212G>T (p.Leu1404=)
c.4086G>T (p.Leu1362=)
c.4206G>T (p.Leu1402=)
c.4134G>T (p.Leu1378=)
c.900G>T (p.Leu300=)
c.762G>T (p.Leu254=)
c.3324G>T (p.Leu1108=)
c.4089G>T (p.Leu1363=)
c.4071G>T (p.Leu1357=)
c.777G>T (p.Leu259=)
c.822G>T (p.Leu274=)
c.533G>T
c.786G>T (p.Leu262=)
c.*3995G>T (n.*3995G>T)
c.506G>T
c.903G>T (p.Leu301=)
c.525G>T (p.Leu175=)
c.528G>T (p.Leu176=)
c.5-18598G>T (n.5-18598G>T)
c.-43-8028G>T (n.-43-8028G>T)
c.-98-32359G>T (n.-98-32359G>T)
n.106G>T
n.4348G>T
n.4389G>T
 ClinVar dbSNP
17g.43082549C=CA2260778069BRCA1c.4212G= (p.Leu1404=)
c.4086G= (p.Leu1362=)
c.4206G= (p.Leu1402=)
c.4134G= (p.Leu1378=)
c.900G= (p.Leu300=)
c.762G= (p.Leu254=)
c.3324G= (p.Leu1108=)
c.4089G= (p.Leu1363=)
c.4071G= (p.Leu1357=)
c.777G= (p.Leu259=)
c.822G= (p.Leu274=)
c.533G=
c.786G= (p.Leu262=)
c.*3995G= (n.*3995G=)
c.506G=
c.903G= (p.Leu301=)
c.525G= (p.Leu175=)
c.528G= (p.Leu176=)
c.5-18598G= (n.5-18598G=)
c.-43-8028G= (n.-43-8028G=)
c.-98-32359G= (n.-98-32359G=)
n.106G=
n.4348G=
n.4389G=
17g.43082549C>GCA500148426BRCA1c.4212G>C (p.Leu1404=)
c.4086G>C (p.Leu1362=)
c.4206G>C (p.Leu1402=)
c.4134G>C (p.Leu1378=)
c.900G>C (p.Leu300=)
c.762G>C (p.Leu254=)
c.3324G>C (p.Leu1108=)
c.4089G>C (p.Leu1363=)
c.4071G>C (p.Leu1357=)
c.777G>C (p.Leu259=)
c.822G>C (p.Leu274=)
c.533G>C
c.786G>C (p.Leu262=)
c.*3995G>C (n.*3995G>C)
c.506G>C
c.903G>C (p.Leu301=)
c.525G>C (p.Leu175=)
c.528G>C (p.Leu176=)
c.5-18598G>C (n.5-18598G>C)
c.-43-8028G>C (n.-43-8028G>C)
c.-98-32359G>C (n.-98-32359G>C)
n.106G>C
n.4348G>C
n.4389G>C
 ClinVar dbSNP
17g.43082549C>TCA500148427BRCA1c.4212G>A (p.Leu1404=)
c.4086G>A (p.Leu1362=)
c.4206G>A (p.Leu1402=)
c.4134G>A (p.Leu1378=)
c.900G>A (p.Leu300=)
c.762G>A (p.Leu254=)
c.3324G>A (p.Leu1108=)
c.4089G>A (p.Leu1363=)
c.4071G>A (p.Leu1357=)
c.777G>A (p.Leu259=)
c.822G>A (p.Leu274=)
c.533G>A
c.786G>A (p.Leu262=)
c.*3995G>A (n.*3995G>A)
c.506G>A
c.903G>A (p.Leu301=)
c.525G>A (p.Leu175=)
c.528G>A (p.Leu176=)
c.5-18598G>A (n.5-18598G>A)
c.-43-8028G>A (n.-43-8028G>A)
c.-98-32359G>A (n.-98-32359G>A)
n.106G>A
n.4348G>A
n.4389G>A
 ClinVar dbSNP
17g.43082549_43082550delinsCACA2260778068BRCA1c.4211_4212delinsTG (p.Leu1404=)
c.4085_4086delinsTG (p.Leu1362=)
c.4205_4206delinsTG (p.Leu1402=)
c.4133_4134delinsTG (p.Leu1378=)
c.899_900delinsTG (p.Leu300=)
c.761_762delinsTG (p.Leu254=)
c.3323_3324delinsTG (p.Leu1108=)
c.4088_4089delinsTG (p.Leu1363=)
c.4070_4071delinsTG (p.Leu1357=)
c.776_777delinsTG (p.Leu259=)
c.821_822delinsTG (p.Leu274=)
c.532_533delinsTG
c.785_786delinsTG (p.Leu262=)
c.*3994_*3995delinsTG (n.*3994_*3995delinsTG)
c.505_506delinsTG
c.902_903delinsTG (p.Leu301=)
c.524_525delinsTG (p.Leu175=)
c.527_528delinsTG (p.Leu176=)
c.5-18599_5-18598delinsTG (n.5-18599_5-18598delinsTG)
c.-43-8029_-43-8028delinsTG (n.-43-8029_-43-8028delinsTG)
c.-98-32360_-98-32359delinsTG (n.-98-32360_-98-32359delinsTG)
n.105_106delinsTG
n.4347_4348delinsTG
n.4388_4389delinsTG
17g.43082549_43082550insTCCTTCTGCA626221291BRCA1c.4211_4212insCAGAAGGA (p.Ile1405ArgfsTer4)
c.4085_4086insCAGAAGGA (p.Ile1363ArgfsTer4)
c.4205_4206insCAGAAGGA (p.Ile1403ArgfsTer4)
c.4133_4134insCAGAAGGA (p.Ile1379ArgfsTer4)
c.899_900insCAGAAGGA (p.Ile301ArgfsTer4)
c.761_762insCAGAAGGA (p.Ile255ArgfsTer4)
c.3323_3324insCAGAAGGA (p.Ile1109ArgfsTer4)
c.4088_4089insCAGAAGGA (p.Ile1364ArgfsTer4)
c.4070_4071insCAGAAGGA (p.Ile1358ArgfsTer4)
c.776_777insCAGAAGGA (p.Ile260ArgfsTer4)
c.821_822insCAGAAGGA (p.Ile275ArgfsTer4)
c.532_533insCAGAAGGA
c.785_786insCAGAAGGA (p.Ile263ArgfsTer4)
c.*3994_*3995insCAGAAGGA (n.*3994_*3995insCAGAAGGA)
c.505_506insCAGAAGGA
c.902_903insCAGAAGGA (p.Ile302ArgfsTer4)
c.524_525insCAGAAGGA (p.Ile176ArgfsTer4)
c.527_528insCAGAAGGA (p.Ile177ArgfsTer4)
c.5-18599_5-18598insCAGAAGGA (n.5-18599_5-18598insCAGAAGGA)
c.-43-8029_-43-8028insCAGAAGGA (n.-43-8029_-43-8028insCAGAAGGA)
c.-98-32360_-98-32359insCAGAAGGA (n.-98-32360_-98-32359insCAGAAGGA)
n.105_106insCAGAAGGA
n.4347_4348insCAGAAGGA
n.4388_4389insCAGAAGGA
 gnomAD v2
17g.43082549_43082550insTCCTTCTGACA626221292BRCA1c.4211_4212insTCAGAAGGA (p.Leu1404_Ile1405insGlnLysGlu)
c.4085_4086insTCAGAAGGA (p.Leu1362_Ile1363insGlnLysGlu)
c.4205_4206insTCAGAAGGA (p.Leu1402_Ile1403insGlnLysGlu)
c.4133_4134insTCAGAAGGA (p.Leu1378_Ile1379insGlnLysGlu)
c.899_900insTCAGAAGGA (p.Leu300_Ile301insGlnLysGlu)
c.761_762insTCAGAAGGA (p.Leu254_Ile255insGlnLysGlu)
c.3323_3324insTCAGAAGGA (p.Leu1108_Ile1109insGlnLysGlu)
c.4088_4089insTCAGAAGGA (p.Leu1363_Ile1364insGlnLysGlu)
c.4070_4071insTCAGAAGGA (p.Leu1357_Ile1358insGlnLysGlu)
c.776_777insTCAGAAGGA (p.Leu259_Ile260insGlnLysGlu)
c.821_822insTCAGAAGGA (p.Leu274_Ile275insGlnLysGlu)
c.532_533insTCAGAAGGA
c.785_786insTCAGAAGGA (p.Leu262_Ile263insGlnLysGlu)
c.*3994_*3995insTCAGAAGGA (n.*3994_*3995insTCAGAAGGA)
c.505_506insTCAGAAGGA
c.902_903insTCAGAAGGA (p.Leu301_Ile302insGlnLysGlu)
c.524_525insTCAGAAGGA (p.Leu175_Ile176insGlnLysGlu)
c.527_528insTCAGAAGGA (p.Leu176_Ile177insGlnLysGlu)
c.5-18599_5-18598insTCAGAAGGA (n.5-18599_5-18598insTCAGAAGGA)
c.-43-8029_-43-8028insTCAGAAGGA (n.-43-8029_-43-8028insTCAGAAGGA)
c.-98-32360_-98-32359insTCAGAAGGA (n.-98-32360_-98-32359insTCAGAAGGA)
n.105_106insTCAGAAGGA
n.4347_4348insTCAGAAGGA
n.4388_4389insTCAGAAGGA
 gnomAD v2
17g.43082550delCA658684087BRCA1c.4211del (p.Leu1404ArgfsTer2)
c.4085del (p.Leu1362ArgfsTer2)
c.4205del (p.Leu1402ArgfsTer2)
c.4133del (p.Leu1378ArgfsTer2)
c.899del (p.Leu300ArgfsTer2)
c.761del (p.Leu254ArgfsTer2)
c.3323del (p.Leu1108ArgfsTer2)
c.4088del (p.Leu1363ArgfsTer2)
c.4070del (p.Leu1357ArgfsTer2)
c.776del (p.Leu259ArgfsTer2)
c.821del (p.Leu274ArgfsTer2)
c.532del
c.785del (p.Leu262ArgfsTer2)
c.*3994del (n.*3994del)
c.505del
c.902del (p.Leu301ArgfsTer2)
c.524del (p.Leu175ArgfsTer2)
c.527del (p.Leu176ArgfsTer2)
c.5-18599del (n.5-18599del)
c.-43-8029del (n.-43-8029del)
c.-98-32360del (n.-98-32360del)
n.105del
n.4347del
n.4388del
 ClinVar dbSNP
17g.43082550A=CA2260778070BRCA1c.4211T= (p.Leu1404=)
c.4085T= (p.Leu1362=)
c.4205T= (p.Leu1402=)
c.4133T= (p.Leu1378=)
c.899T= (p.Leu300=)
c.761T= (p.Leu254=)
c.3323T= (p.Leu1108=)
c.4088T= (p.Leu1363=)
c.4070T= (p.Leu1357=)
c.776T= (p.Leu259=)
c.821T= (p.Leu274=)
c.532T=
c.785T= (p.Leu262=)
c.*3994T= (n.*3994T=)
c.505T=
c.902T= (p.Leu301=)
c.524T= (p.Leu175=)
c.527T= (p.Leu176=)
c.5-18599T= (n.5-18599T=)
c.-43-8029T= (n.-43-8029T=)
c.-98-32360T= (n.-98-32360T=)
n.105T=
n.4347T=
n.4388T=
17g.43082550A>CCA059655BRCA1c.4211T>G (p.Leu1404Arg)
c.4085T>G (p.Leu1362Arg)
c.4205T>G (p.Leu1402Arg)
c.4133T>G (p.Leu1378Arg)
c.899T>G (p.Leu300Arg)
c.761T>G (p.Leu254Arg)
c.3323T>G (p.Leu1108Arg)
c.4088T>G (p.Leu1363Arg)
c.4070T>G (p.Leu1357Arg)
c.776T>G (p.Leu259Arg)
c.821T>G (p.Leu274Arg)
c.532T>G
c.785T>G (p.Leu262Arg)
c.*3994T>G (n.*3994T>G)
c.505T>G
c.902T>G (p.Leu301Arg)
c.524T>G (p.Leu175Arg)
c.527T>G (p.Leu176Arg)
c.5-18599T>G (n.5-18599T>G)
c.-43-8029T>G (n.-43-8029T>G)
c.-98-32360T>G (n.-98-32360T>G)
n.105T>G
n.4347T>G
n.4388T>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43082550A>GCA002713BRCA1c.4211T>C (p.Leu1404Pro)
c.4085T>C (p.Leu1362Pro)
c.4205T>C (p.Leu1402Pro)
c.4133T>C (p.Leu1378Pro)
c.899T>C (p.Leu300Pro)
c.761T>C (p.Leu254Pro)
c.3323T>C (p.Leu1108Pro)
c.4088T>C (p.Leu1363Pro)
c.4070T>C (p.Leu1357Pro)
c.776T>C (p.Leu259Pro)
c.821T>C (p.Leu274Pro)
c.532T>C
c.785T>C (p.Leu262Pro)
c.*3994T>C (n.*3994T>C)
c.505T>C
c.902T>C (p.Leu301Pro)
c.524T>C (p.Leu175Pro)
c.527T>C (p.Leu176Pro)
c.5-18599T>C (n.5-18599T>C)
c.-43-8029T>C (n.-43-8029T>C)
c.-98-32360T>C (n.-98-32360T>C)
n.105T>C
n.4347T>C
n.4388T>C
 ClinVar dbSNP gnomAD v4
17g.43082550A>TCA10593297BRCA1c.4211T>A (p.Leu1404Gln)
c.4085T>A (p.Leu1362Gln)
c.4205T>A (p.Leu1402Gln)
c.4133T>A (p.Leu1378Gln)
c.899T>A (p.Leu300Gln)
c.761T>A (p.Leu254Gln)
c.3323T>A (p.Leu1108Gln)
c.4088T>A (p.Leu1363Gln)
c.4070T>A (p.Leu1357Gln)
c.776T>A (p.Leu259Gln)
c.821T>A (p.Leu274Gln)
c.532T>A
c.785T>A (p.Leu262Gln)
c.*3994T>A (n.*3994T>A)
c.505T>A
c.902T>A (p.Leu301Gln)
c.524T>A (p.Leu175Gln)
c.527T>A (p.Leu176Gln)
c.5-18599T>A (n.5-18599T>A)
c.-43-8029T>A (n.-43-8029T>A)
c.-98-32360T>A (n.-98-32360T>A)
n.105T>A
n.4347T>A
n.4388T>A
 dbSNP
17g.43082550_43082551delinsAGCA2260778071BRCA1c.4210_4211delinsCT (p.Leu1404=)
c.4084_4085delinsCT (p.Leu1362=)
c.4204_4205delinsCT (p.Leu1402=)
c.4132_4133delinsCT (p.Leu1378=)
c.898_899delinsCT (p.Leu300=)
c.760_761delinsCT (p.Leu254=)
c.3322_3323delinsCT (p.Leu1108=)
c.4087_4088delinsCT (p.Leu1363=)
c.4069_4070delinsCT (p.Leu1357=)
c.775_776delinsCT (p.Leu259=)
c.820_821delinsCT (p.Leu274=)
c.531_532delinsCT
c.784_785delinsCT (p.Leu262=)
c.*3993_*3994delinsCT (n.*3993_*3994delinsCT)
c.504_505delinsCT
c.901_902delinsCT (p.Leu301=)
c.523_524delinsCT (p.Leu175=)
c.526_527delinsCT (p.Leu176=)
c.5-18600_5-18599delinsCT (n.5-18600_5-18599delinsCT)
c.-43-8030_-43-8029delinsCT (n.-43-8030_-43-8029delinsCT)
c.-98-32361_-98-32360delinsCT (n.-98-32361_-98-32360delinsCT)
n.104_105delinsCT
n.4346_4347delinsCT
n.4387_4388delinsCT
17g.43082551G>ACA500148428BRCA1c.4210C>T (p.Leu1404=)
c.4084C>T (p.Leu1362=)
c.4204C>T (p.Leu1402=)
c.4132C>T (p.Leu1378=)
c.898C>T (p.Leu300=)
c.760C>T (p.Leu254=)
c.3322C>T (p.Leu1108=)
c.4087C>T (p.Leu1363=)
c.4069C>T (p.Leu1357=)
c.775C>T (p.Leu259=)
c.820C>T (p.Leu274=)
c.531C>T
c.784C>T (p.Leu262=)
c.*3993C>T (n.*3993C>T)
c.504C>T
c.901C>T (p.Leu301=)
c.523C>T (p.Leu175=)
c.526C>T (p.Leu176=)
c.5-18600C>T (n.5-18600C>T)
c.-43-8030C>T (n.-43-8030C>T)
c.-98-32361C>T (n.-98-32361C>T)
n.104C>T
n.4346C>T
n.4387C>T
 ClinVar dbSNP
17g.43082551G>CCA10593298BRCA1c.4210C>G (p.Leu1404Val)
c.4084C>G (p.Leu1362Val)
c.4204C>G (p.Leu1402Val)
c.4132C>G (p.Leu1378Val)
c.898C>G (p.Leu300Val)
c.760C>G (p.Leu254Val)
c.3322C>G (p.Leu1108Val)
c.4087C>G (p.Leu1363Val)
c.4069C>G (p.Leu1357Val)
c.775C>G (p.Leu259Val)
c.820C>G (p.Leu274Val)
c.531C>G
c.784C>G (p.Leu262Val)
c.*3993C>G (n.*3993C>G)
c.504C>G
c.901C>G (p.Leu301Val)
c.523C>G (p.Leu175Val)
c.526C>G (p.Leu176Val)
c.5-18600C>G (n.5-18600C>G)
c.-43-8030C>G (n.-43-8030C>G)
c.-98-32361C>G (n.-98-32361C>G)
n.104C>G
n.4346C>G
n.4387C>G
 dbSNP
17g.43082551G>TCA10593299BRCA1c.4210C>A (p.Leu1404Met)
c.4084C>A (p.Leu1362Met)
c.4204C>A (p.Leu1402Met)
c.4132C>A (p.Leu1378Met)
c.898C>A (p.Leu300Met)
c.760C>A (p.Leu254Met)
c.3322C>A (p.Leu1108Met)
c.4087C>A (p.Leu1363Met)
c.4069C>A (p.Leu1357Met)
c.775C>A (p.Leu259Met)
c.820C>A (p.Leu274Met)
c.531C>A
c.784C>A (p.Leu262Met)
c.*3993C>A (n.*3993C>A)
c.504C>A
c.901C>A (p.Leu301Met)
c.523C>A (p.Leu175Met)
c.526C>A (p.Leu176Met)
c.5-18600C>A (n.5-18600C>A)
c.-43-8030C>A (n.-43-8030C>A)
c.-98-32361C>A (n.-98-32361C>A)
n.104C>A
n.4346C>A
n.4387C>A
17g.43082552delCA002712BRCA1c.4210del (p.Leu1404Ter)
c.4084del (p.Leu1362Ter)
c.4204del (p.Leu1402Ter)
c.4132del (p.Leu1378Ter)
c.898del (p.Leu300Ter)
c.760del (p.Leu254Ter)
c.3322del (p.Leu1108Ter)
c.4087del (p.Leu1363Ter)
c.4069del (p.Leu1357Ter)
c.775del (p.Leu259Ter)
c.820del (p.Leu274Ter)
c.531del
c.784del (p.Leu262Ter)
c.*3993del (n.*3993del)
c.504del
c.901del (p.Leu301Ter)
c.523del (p.Leu175Ter)
c.526del (p.Leu176Ter)
c.5-18600del (n.5-18600del)
c.-43-8030del (n.-43-8030del)
c.-98-32361del (n.-98-32361del)
n.104del
n.4346del
n.4387del
 ClinVar dbSNP
17g.43082552G>ACA002709BRCA1c.4209C>T (p.Asn1403=)
c.4083C>T (p.Asn1361=)
c.4203C>T (p.Asn1401=)
c.4131C>T (p.Asn1377=)
c.897C>T (p.Asn299=)
c.759C>T (p.Asn253=)
c.3321C>T (p.Asn1107=)
c.4086C>T (p.Asn1362=)
c.4068C>T (p.Asn1356=)
c.774C>T (p.Asn258=)
c.819C>T (p.Asn273=)
c.530C>T
c.783C>T (p.Asn261=)
c.*3992C>T (n.*3992C>T)
c.503C>T
c.900C>T (p.Asn300=)
c.522C>T (p.Asn174=)
c.525C>T (p.Asn175=)
c.5-18601C>T (n.5-18601C>T)
c.-43-8031C>T (n.-43-8031C>T)
c.-98-32362C>T (n.-98-32362C>T)
n.103C>T
n.4345C>T
n.4386C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082552G>CCA10593300BRCA1c.4209C>G (p.Asn1403Lys)
c.4083C>G (p.Asn1361Lys)
c.4203C>G (p.Asn1401Lys)
c.4131C>G (p.Asn1377Lys)
c.897C>G (p.Asn299Lys)
c.759C>G (p.Asn253Lys)
c.3321C>G (p.Asn1107Lys)
c.4086C>G (p.Asn1362Lys)
c.4068C>G (p.Asn1356Lys)
c.774C>G (p.Asn258Lys)
c.819C>G (p.Asn273Lys)
c.530C>G
c.783C>G (p.Asn261Lys)
c.*3992C>G (n.*3992C>G)
c.503C>G
c.900C>G (p.Asn300Lys)
c.522C>G (p.Asn174Lys)
c.525C>G (p.Asn175Lys)
c.5-18601C>G (n.5-18601C>G)
c.-43-8031C>G (n.-43-8031C>G)
c.-98-32362C>G (n.-98-32362C>G)
n.103C>G
n.4345C>G
n.4386C>G
17g.43082552G=CA2260778072BRCA1c.4209C= (p.Asn1403=)
c.4083C= (p.Asn1361=)
c.4203C= (p.Asn1401=)
c.4131C= (p.Asn1377=)
c.897C= (p.Asn299=)
c.759C= (p.Asn253=)
c.3321C= (p.Asn1107=)
c.4086C= (p.Asn1362=)
c.4068C= (p.Asn1356=)
c.774C= (p.Asn258=)
c.819C= (p.Asn273=)
c.530C=
c.783C= (p.Asn261=)
c.*3992C= (n.*3992C=)
c.503C=
c.900C= (p.Asn300=)
c.522C= (p.Asn174=)
c.525C= (p.Asn175=)
c.5-18601C= (n.5-18601C=)
c.-43-8031C= (n.-43-8031C=)
c.-98-32362C= (n.-98-32362C=)
n.103C=
n.4345C=
n.4386C=
17g.43082552G>TCA10593301BRCA1c.4209C>A (p.Asn1403Lys)
c.4083C>A (p.Asn1361Lys)
c.4203C>A (p.Asn1401Lys)
c.4131C>A (p.Asn1377Lys)
c.897C>A (p.Asn299Lys)
c.759C>A (p.Asn253Lys)
c.3321C>A (p.Asn1107Lys)
c.4086C>A (p.Asn1362Lys)
c.4068C>A (p.Asn1356Lys)
c.774C>A (p.Asn258Lys)
c.819C>A (p.Asn273Lys)
c.530C>A
c.783C>A (p.Asn261Lys)
c.*3992C>A (n.*3992C>A)
c.503C>A
c.900C>A (p.Asn300Lys)
c.522C>A (p.Asn174Lys)
c.525C>A (p.Asn175Lys)
c.5-18601C>A (n.5-18601C>A)
c.-43-8031C>A (n.-43-8031C>A)
c.-98-32362C>A (n.-98-32362C>A)
n.103C>A
n.4345C>A
n.4386C>A
17g.43082553T>ACA10593302BRCA1c.4208A>T (p.Asn1403Ile)
c.4082A>T (p.Asn1361Ile)
c.4202A>T (p.Asn1401Ile)
c.4130A>T (p.Asn1377Ile)
c.896A>T (p.Asn299Ile)
c.758A>T (p.Asn253Ile)
c.3320A>T (p.Asn1107Ile)
c.4085A>T (p.Asn1362Ile)
c.4067A>T (p.Asn1356Ile)
c.773A>T (p.Asn258Ile)
c.818A>T (p.Asn273Ile)
c.529A>T
c.782A>T (p.Asn261Ile)
c.*3991A>T (n.*3991A>T)
c.502A>T
c.899A>T (p.Asn300Ile)
c.521A>T (p.Asn174Ile)
c.524A>T (p.Asn175Ile)
c.5-18602A>T (n.5-18602A>T)
c.-43-8032A>T (n.-43-8032A>T)
c.-98-32363A>T (n.-98-32363A>T)
n.102A>T
n.4344A>T
n.4385A>T
 dbSNP
17g.43082553T>CCA10593303BRCA1c.4208A>G (p.Asn1403Ser)
c.4082A>G (p.Asn1361Ser)
c.4202A>G (p.Asn1401Ser)
c.4130A>G (p.Asn1377Ser)
c.896A>G (p.Asn299Ser)
c.758A>G (p.Asn253Ser)
c.3320A>G (p.Asn1107Ser)
c.4085A>G (p.Asn1362Ser)
c.4067A>G (p.Asn1356Ser)
c.773A>G (p.Asn258Ser)
c.818A>G (p.Asn273Ser)
c.529A>G
c.782A>G (p.Asn261Ser)
c.*3991A>G (n.*3991A>G)
c.502A>G
c.899A>G (p.Asn300Ser)
c.521A>G (p.Asn174Ser)
c.524A>G (p.Asn175Ser)
c.5-18602A>G (n.5-18602A>G)
c.-43-8032A>G (n.-43-8032A>G)
c.-98-32363A>G (n.-98-32363A>G)
n.102A>G
n.4344A>G
n.4385A>G
 COSMIC COSMIC
17g.43082553T>GCA10593304BRCA1c.4208A>C (p.Asn1403Thr)
c.4082A>C (p.Asn1361Thr)
c.4202A>C (p.Asn1401Thr)
c.4130A>C (p.Asn1377Thr)
c.896A>C (p.Asn299Thr)
c.758A>C (p.Asn253Thr)
c.3320A>C (p.Asn1107Thr)
c.4085A>C (p.Asn1362Thr)
c.4067A>C (p.Asn1356Thr)
c.773A>C (p.Asn258Thr)
c.818A>C (p.Asn273Thr)
c.529A>C
c.782A>C (p.Asn261Thr)
c.*3991A>C (n.*3991A>C)
c.502A>C
c.899A>C (p.Asn300Thr)
c.521A>C (p.Asn174Thr)
c.524A>C (p.Asn175Thr)
c.5-18602A>C (n.5-18602A>C)
c.-43-8032A>C (n.-43-8032A>C)
c.-98-32363A>C (n.-98-32363A>C)
n.102A>C
n.4344A>C
n.4385A>C
17g.43082553_43082555delinsTTACA2260778073BRCA1c.4206_4208delinsTAA (p.His1402=)
c.4080_4082delinsTAA (p.His1360=)
c.4200_4202delinsTAA (p.His1400=)
c.4128_4130delinsTAA (p.His1376=)
c.894_896delinsTAA (p.His298=)
c.756_758delinsTAA (p.His252=)
c.3318_3320delinsTAA (p.His1106=)
c.4083_4085delinsTAA (p.His1361=)
c.4065_4067delinsTAA (p.His1355=)
c.771_773delinsTAA (p.His257=)
c.816_818delinsTAA (p.His272=)
c.527_529delinsTAA
c.780_782delinsTAA (p.His260=)
c.*3989_*3991delinsTAA (n.*3989_*3991delinsTAA)
c.500_502delinsTAA
c.897_899delinsTAA (p.His299=)
c.519_521delinsTAA (p.His173=)
c.522_524delinsTAA (p.His174=)
c.5-18604_5-18602delinsTAA (n.5-18604_5-18602delinsTAA)
c.-43-8034_-43-8032delinsTAA (n.-43-8034_-43-8032delinsTAA)
c.-98-32365_-98-32363delinsTAA (n.-98-32365_-98-32363delinsTAA)
n.100_102delinsTAA
n.4342_4344delinsTAA
n.4383_4385delinsTAA
17g.43082554T>ACA10593305BRCA1c.4207A>T (p.Asn1403Tyr)
c.4081A>T (p.Asn1361Tyr)
c.4201A>T (p.Asn1401Tyr)
c.4129A>T (p.Asn1377Tyr)
c.895A>T (p.Asn299Tyr)
c.757A>T (p.Asn253Tyr)
c.3319A>T (p.Asn1107Tyr)
c.4084A>T (p.Asn1362Tyr)
c.4066A>T (p.Asn1356Tyr)
c.772A>T (p.Asn258Tyr)
c.817A>T (p.Asn273Tyr)
c.528A>T
c.781A>T (p.Asn261Tyr)
c.*3990A>T (n.*3990A>T)
c.501A>T
c.898A>T (p.Asn300Tyr)
c.520A>T (p.Asn174Tyr)
c.523A>T (p.Asn175Tyr)
c.5-18603A>T (n.5-18603A>T)
c.-43-8033A>T (n.-43-8033A>T)
c.-98-32364A>T (n.-98-32364A>T)
n.101A>T
n.4343A>T
n.4384A>T
 dbSNP
17g.43082554T>CCA10593306BRCA1c.4207A>G (p.Asn1403Asp)
c.4081A>G (p.Asn1361Asp)
c.4201A>G (p.Asn1401Asp)
c.4129A>G (p.Asn1377Asp)
c.895A>G (p.Asn299Asp)
c.757A>G (p.Asn253Asp)
c.3319A>G (p.Asn1107Asp)
c.4084A>G (p.Asn1362Asp)
c.4066A>G (p.Asn1356Asp)
c.772A>G (p.Asn258Asp)
c.817A>G (p.Asn273Asp)
c.528A>G
c.781A>G (p.Asn261Asp)
c.*3990A>G (n.*3990A>G)
c.501A>G
c.898A>G (p.Asn300Asp)
c.520A>G (p.Asn174Asp)
c.523A>G (p.Asn175Asp)
c.5-18603A>G (n.5-18603A>G)
c.-43-8033A>G (n.-43-8033A>G)
c.-98-32364A>G (n.-98-32364A>G)
n.101A>G
n.4343A>G
n.4384A>G
 dbSNP
17g.43082554T>GCA10593307BRCA1c.4207A>C (p.Asn1403His)
c.4081A>C (p.Asn1361His)
c.4201A>C (p.Asn1401His)
c.4129A>C (p.Asn1377His)
c.895A>C (p.Asn299His)
c.757A>C (p.Asn253His)
c.3319A>C (p.Asn1107His)
c.4084A>C (p.Asn1362His)
c.4066A>C (p.Asn1356His)
c.772A>C (p.Asn258His)
c.817A>C (p.Asn273His)
c.528A>C
c.781A>C (p.Asn261His)
c.*3990A>C (n.*3990A>C)
c.501A>C
c.898A>C (p.Asn300His)
c.520A>C (p.Asn174His)
c.523A>C (p.Asn175His)
c.5-18603A>C (n.5-18603A>C)
c.-43-8033A>C (n.-43-8033A>C)
c.-98-32364A>C (n.-98-32364A>C)
n.101A>C
n.4343A>C
n.4384A>C
17g.43082555_43082556delCA10589680BRCA1c.4206_4207del (p.His1402GlnfsTer11)
c.4080_4081del (p.His1360GlnfsTer11)
c.4200_4201del (p.His1400GlnfsTer11)
c.4128_4129del (p.His1376GlnfsTer11)
c.894_895del (p.His298GlnfsTer11)
c.756_757del (p.His252GlnfsTer11)
c.3318_3319del (p.His1106GlnfsTer11)
c.4083_4084del (p.His1361GlnfsTer11)
c.4065_4066del (p.His1355GlnfsTer11)
c.771_772del (p.His257GlnfsTer11)
c.816_817del (p.His272GlnfsTer11)
c.527_528del
c.780_781del (p.His260GlnfsTer11)
c.*3989_*3990del (n.*3989_*3990del)
c.500_501del
c.897_898del (p.His299GlnfsTer11)
c.519_520del (p.His173GlnfsTer11)
c.522_523del (p.His174GlnfsTer11)
c.5-18604_5-18603del (n.5-18604_5-18603del)
c.-43-8034_-43-8033del (n.-43-8034_-43-8033del)
c.-98-32365_-98-32364del (n.-98-32365_-98-32364del)
n.100_101del
n.4342_4343del
n.4383_4384del
 ClinVar dbSNP
17g.43082555A>CCA10593308BRCA1c.4206T>G (p.His1402Gln)
c.4080T>G (p.His1360Gln)
c.4200T>G (p.His1400Gln)
c.4128T>G (p.His1376Gln)
c.894T>G (p.His298Gln)
c.756T>G (p.His252Gln)
c.3318T>G (p.His1106Gln)
c.4083T>G (p.His1361Gln)
c.4065T>G (p.His1355Gln)
c.771T>G (p.His257Gln)
c.816T>G (p.His272Gln)
c.527T>G
c.780T>G (p.His260Gln)
c.*3989T>G (n.*3989T>G)
c.500T>G
c.897T>G (p.His299Gln)
c.519T>G (p.His173Gln)
c.522T>G (p.His174Gln)
c.5-18604T>G (n.5-18604T>G)
c.-43-8034T>G (n.-43-8034T>G)
c.-98-32365T>G (n.-98-32365T>G)
n.100T>G
n.4342T>G
n.4383T>G
17g.43082555A>GCA500148429BRCA1c.4206T>C (p.His1402=)
c.4080T>C (p.His1360=)
c.4200T>C (p.His1400=)
c.4128T>C (p.His1376=)
c.894T>C (p.His298=)
c.756T>C (p.His252=)
c.3318T>C (p.His1106=)
c.4083T>C (p.His1361=)
c.4065T>C (p.His1355=)
c.771T>C (p.His257=)
c.816T>C (p.His272=)
c.527T>C
c.780T>C (p.His260=)
c.*3989T>C (n.*3989T>C)
c.500T>C
c.897T>C (p.His299=)
c.519T>C (p.His173=)
c.522T>C (p.His174=)
c.5-18604T>C (n.5-18604T>C)
c.-43-8034T>C (n.-43-8034T>C)
c.-98-32365T>C (n.-98-32365T>C)
n.100T>C
n.4342T>C
n.4383T>C
17g.43082555A>TCA10593309BRCA1c.4206T>A (p.His1402Gln)
c.4080T>A (p.His1360Gln)
c.4200T>A (p.His1400Gln)
c.4128T>A (p.His1376Gln)
c.894T>A (p.His298Gln)
c.756T>A (p.His252Gln)
c.3318T>A (p.His1106Gln)
c.4083T>A (p.His1361Gln)
c.4065T>A (p.His1355Gln)
c.771T>A (p.His257Gln)
c.816T>A (p.His272Gln)
c.527T>A
c.780T>A (p.His260Gln)
c.*3989T>A (n.*3989T>A)
c.500T>A
c.897T>A (p.His299Gln)
c.519T>A (p.His173Gln)
c.522T>A (p.His174Gln)
c.5-18604T>A (n.5-18604T>A)
c.-43-8034T>A (n.-43-8034T>A)
c.-98-32365T>A (n.-98-32365T>A)
n.100T>A
n.4342T>A
n.4383T>A
17g.43082555_43082556delinsATCA2260778074BRCA1c.4205_4206delinsAT (p.His1402=)
c.4079_4080delinsAT (p.His1360=)
c.4199_4200delinsAT (p.His1400=)
c.4127_4128delinsAT (p.His1376=)
c.893_894delinsAT (p.His298=)
c.755_756delinsAT (p.His252=)
c.3317_3318delinsAT (p.His1106=)
c.4082_4083delinsAT (p.His1361=)
c.4064_4065delinsAT (p.His1355=)
c.770_771delinsAT (p.His257=)
c.815_816delinsAT (p.His272=)
c.526_527delinsAT
c.779_780delinsAT (p.His260=)
c.*3988_*3989delinsAT (n.*3988_*3989delinsAT)
c.499_500delinsAT
c.896_897delinsAT (p.His299=)
c.518_519delinsAT (p.His173=)
c.521_522delinsAT (p.His174=)
c.5-18605_5-18604delinsAT (n.5-18605_5-18604delinsAT)
c.-43-8035_-43-8034delinsAT (n.-43-8035_-43-8034delinsAT)
c.-98-32366_-98-32365delinsAT (n.-98-32366_-98-32365delinsAT)
n.99_100delinsAT
n.4341_4342delinsAT
n.4382_4383delinsAT
17g.43082556delCA10589681BRCA1c.4205del (p.His1402LeufsTer3)
c.4079del (p.His1360LeufsTer3)
c.4199del (p.His1400LeufsTer3)
c.4127del (p.His1376LeufsTer3)
c.893del (p.His298LeufsTer3)
c.755del (p.His252LeufsTer3)
c.3317del (p.His1106LeufsTer3)
c.4082del (p.His1361LeufsTer3)
c.4064del (p.His1355LeufsTer3)
c.770del (p.His257LeufsTer3)
c.815del (p.His272LeufsTer3)
c.526del
c.779del (p.His260LeufsTer3)
c.*3988del (n.*3988del)
c.499del
c.896del (p.His299LeufsTer3)
c.518del (p.His173LeufsTer3)
c.521del (p.His174LeufsTer3)
c.5-18605del (n.5-18605del)
c.-43-8035del (n.-43-8035del)
c.-98-32366del (n.-98-32366del)
n.99del
n.4341del
n.4382del
 ClinVar dbSNP
17g.43082556T>ACA10593310BRCA1c.4205A>T (p.His1402Leu)
c.4079A>T (p.His1360Leu)
c.4199A>T (p.His1400Leu)
c.4127A>T (p.His1376Leu)
c.893A>T (p.His298Leu)
c.755A>T (p.His252Leu)
c.3317A>T (p.His1106Leu)
c.4082A>T (p.His1361Leu)
c.4064A>T (p.His1355Leu)
c.770A>T (p.His257Leu)
c.815A>T (p.His272Leu)
c.526A>T
c.779A>T (p.His260Leu)
c.*3988A>T (n.*3988A>T)
c.499A>T
c.896A>T (p.His299Leu)
c.518A>T (p.His173Leu)
c.521A>T (p.His174Leu)
c.5-18605A>T (n.5-18605A>T)
c.-43-8035A>T (n.-43-8035A>T)
c.-98-32366A>T (n.-98-32366A>T)
n.99A>T
n.4341A>T
n.4382A>T
 dbSNP
17g.43082556T>CCA002708BRCA1c.4205A>G (p.His1402Arg)
c.4079A>G (p.His1360Arg)
c.4199A>G (p.His1400Arg)
c.4127A>G (p.His1376Arg)
c.893A>G (p.His298Arg)
c.755A>G (p.His252Arg)
c.3317A>G (p.His1106Arg)
c.4082A>G (p.His1361Arg)
c.4064A>G (p.His1355Arg)
c.770A>G (p.His257Arg)
c.815A>G (p.His272Arg)
c.526A>G
c.779A>G (p.His260Arg)
c.*3988A>G (n.*3988A>G)
c.499A>G
c.896A>G (p.His299Arg)
c.518A>G (p.His173Arg)
c.521A>G (p.His174Arg)
c.5-18605A>G (n.5-18605A>G)
c.-43-8035A>G (n.-43-8035A>G)
c.-98-32366A>G (n.-98-32366A>G)
n.99A>G
n.4341A>G
n.4382A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082556T>GCA10583562BRCA1c.4205A>C (p.His1402Pro)
c.4079A>C (p.His1360Pro)
c.4199A>C (p.His1400Pro)
c.4127A>C (p.His1376Pro)
c.893A>C (p.His298Pro)
c.755A>C (p.His252Pro)
c.3317A>C (p.His1106Pro)
c.4082A>C (p.His1361Pro)
c.4064A>C (p.His1355Pro)
c.770A>C (p.His257Pro)
c.815A>C (p.His272Pro)
c.526A>C
c.779A>C (p.His260Pro)
c.*3988A>C (n.*3988A>C)
c.499A>C
c.896A>C (p.His299Pro)
c.518A>C (p.His173Pro)
c.521A>C (p.His174Pro)
c.5-18605A>C (n.5-18605A>C)
c.-43-8035A>C (n.-43-8035A>C)
c.-98-32366A>C (n.-98-32366A>C)
n.99A>C
n.4341A>C
n.4382A>C
 ClinVar dbSNP
17g.43082556T=CA2260778075BRCA1c.4205A= (p.His1402=)
c.4079A= (p.His1360=)
c.4199A= (p.His1400=)
c.4127A= (p.His1376=)
c.893A= (p.His298=)
c.755A= (p.His252=)
c.3317A= (p.His1106=)
c.4082A= (p.His1361=)
c.4064A= (p.His1355=)
c.770A= (p.His257=)
c.815A= (p.His272=)
c.526A=
c.779A= (p.His260=)
c.*3988A= (n.*3988A=)
c.499A=
c.896A= (p.His299=)
c.518A= (p.His173=)
c.521A= (p.His174=)
c.5-18605A= (n.5-18605A=)
c.-43-8035A= (n.-43-8035A=)
c.-98-32366A= (n.-98-32366A=)
n.99A=
n.4341A=
n.4382A=
17g.43082557G>ACA002707BRCA1c.4204C>T (p.His1402Tyr)
c.4078C>T (p.His1360Tyr)
c.4198C>T (p.His1400Tyr)
c.4126C>T (p.His1376Tyr)
c.892C>T (p.His298Tyr)
c.754C>T (p.His252Tyr)
c.3316C>T (p.His1106Tyr)
c.4081C>T (p.His1361Tyr)
c.4063C>T (p.His1355Tyr)
c.769C>T (p.His257Tyr)
c.814C>T (p.His272Tyr)
c.525C>T
c.778C>T (p.His260Tyr)
c.*3987C>T (n.*3987C>T)
c.498C>T
c.895C>T (p.His299Tyr)
c.517C>T (p.His173Tyr)
c.520C>T (p.His174Tyr)
c.5-18606C>T (n.5-18606C>T)
c.-43-8036C>T (n.-43-8036C>T)
c.-98-32367C>T (n.-98-32367C>T)
n.98C>T
n.4340C>T
n.4381C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082557G>CCA10593311BRCA1c.4204C>G (p.His1402Asp)
c.4078C>G (p.His1360Asp)
c.4198C>G (p.His1400Asp)
c.4126C>G (p.His1376Asp)
c.892C>G (p.His298Asp)
c.754C>G (p.His252Asp)
c.3316C>G (p.His1106Asp)
c.4081C>G (p.His1361Asp)
c.4063C>G (p.His1355Asp)
c.769C>G (p.His257Asp)
c.814C>G (p.His272Asp)
c.525C>G
c.778C>G (p.His260Asp)
c.*3987C>G (n.*3987C>G)
c.498C>G
c.895C>G (p.His299Asp)
c.517C>G (p.His173Asp)
c.520C>G (p.His174Asp)
c.5-18606C>G (n.5-18606C>G)
c.-43-8036C>G (n.-43-8036C>G)
c.-98-32367C>G (n.-98-32367C>G)
n.98C>G
n.4340C>G
n.4381C>G
 dbSNP
17g.43082557G=CA2260778076BRCA1c.4204C= (p.His1402=)
c.4078C= (p.His1360=)
c.4198C= (p.His1400=)
c.4126C= (p.His1376=)
c.892C= (p.His298=)
c.754C= (p.His252=)
c.3316C= (p.His1106=)
c.4081C= (p.His1361=)
c.4063C= (p.His1355=)
c.769C= (p.His257=)
c.814C= (p.His272=)
c.525C=
c.778C= (p.His260=)
c.*3987C= (n.*3987C=)
c.498C=
c.895C= (p.His299=)
c.517C= (p.His173=)
c.520C= (p.His174=)
c.5-18606C= (n.5-18606C=)
c.-43-8036C= (n.-43-8036C=)
c.-98-32367C= (n.-98-32367C=)
n.98C=
n.4340C=
n.4381C=
17g.43082557G>TCA10593312BRCA1c.4204C>A (p.His1402Asn)
c.4078C>A (p.His1360Asn)
c.4198C>A (p.His1400Asn)
c.4126C>A (p.His1376Asn)
c.892C>A (p.His298Asn)
c.754C>A (p.His252Asn)
c.3316C>A (p.His1106Asn)
c.4081C>A (p.His1361Asn)
c.4063C>A (p.His1355Asn)
c.769C>A (p.His257Asn)
c.814C>A (p.His272Asn)
c.525C>A
c.778C>A (p.His260Asn)
c.*3987C>A (n.*3987C>A)
c.498C>A
c.895C>A (p.His299Asn)
c.517C>A (p.His173Asn)
c.520C>A (p.His174Asn)
c.5-18606C>A (n.5-18606C>A)
c.-43-8036C>A (n.-43-8036C>A)
c.-98-32367C>A (n.-98-32367C>A)
n.98C>A
n.4340C>A
n.4381C>A
17g.43082558T>ACA10593313BRCA1c.4203A>T (p.Gln1401His)
c.4077A>T (p.Gln1359His)
c.4197A>T (p.Gln1399His)
c.4125A>T (p.Gln1375His)
c.891A>T (p.Gln297His)
c.753A>T (p.Gln251His)
c.3315A>T (p.Gln1105His)
c.4080A>T (p.Gln1360His)
c.4062A>T (p.Gln1354His)
c.768A>T (p.Gln256His)
c.813A>T (p.Gln271His)
c.524A>T
c.777A>T (p.Gln259His)
c.*3986A>T (n.*3986A>T)
c.497A>T
c.894A>T (p.Gln298His)
c.516A>T (p.Gln172His)
c.519A>T (p.Gln173His)
c.5-18607A>T (n.5-18607A>T)
c.-43-8037A>T (n.-43-8037A>T)
c.-98-32368A>T (n.-98-32368A>T)
n.97A>T
n.4339A>T
n.4380A>T
 ClinVar dbSNP
17g.43082558T>CCA500148430BRCA1c.4203A>G (p.Gln1401=)
c.4077A>G (p.Gln1359=)
c.4197A>G (p.Gln1399=)
c.4125A>G (p.Gln1375=)
c.891A>G (p.Gln297=)
c.753A>G (p.Gln251=)
c.3315A>G (p.Gln1105=)
c.4080A>G (p.Gln1360=)
c.4062A>G (p.Gln1354=)
c.768A>G (p.Gln256=)
c.813A>G (p.Gln271=)
c.524A>G
c.777A>G (p.Gln259=)
c.*3986A>G (n.*3986A>G)
c.497A>G
c.894A>G (p.Gln298=)
c.516A>G (p.Gln172=)
c.519A>G (p.Gln173=)
c.5-18607A>G (n.5-18607A>G)
c.-43-8037A>G (n.-43-8037A>G)
c.-98-32368A>G (n.-98-32368A>G)
n.97A>G
n.4339A>G
n.4380A>G
 ClinVar dbSNP
17g.43082558T>GCA10593314BRCA1c.4203A>C (p.Gln1401His)
c.4077A>C (p.Gln1359His)
c.4197A>C (p.Gln1399His)
c.4125A>C (p.Gln1375His)
c.891A>C (p.Gln297His)
c.753A>C (p.Gln251His)
c.3315A>C (p.Gln1105His)
c.4080A>C (p.Gln1360His)
c.4062A>C (p.Gln1354His)
c.768A>C (p.Gln256His)
c.813A>C (p.Gln271His)
c.524A>C
c.777A>C (p.Gln259His)
c.*3986A>C (n.*3986A>C)
c.497A>C
c.894A>C (p.Gln298His)
c.516A>C (p.Gln172His)
c.519A>C (p.Gln173His)
c.5-18607A>C (n.5-18607A>C)
c.-43-8037A>C (n.-43-8037A>C)
c.-98-32368A>C (n.-98-32368A>C)
n.97A>C
n.4339A>C
n.4380A>C
17g.43082558T=CA2260778077BRCA1c.4203A= (p.Gln1401=)
c.4077A= (p.Gln1359=)
c.4197A= (p.Gln1399=)
c.4125A= (p.Gln1375=)
c.891A= (p.Gln297=)
c.753A= (p.Gln251=)
c.3315A= (p.Gln1105=)
c.4080A= (p.Gln1360=)
c.4062A= (p.Gln1354=)
c.768A= (p.Gln256=)
c.813A= (p.Gln271=)
c.524A=
c.777A= (p.Gln259=)
c.*3986A= (n.*3986A=)
c.497A=
c.894A= (p.Gln298=)
c.516A= (p.Gln172=)
c.519A= (p.Gln173=)
c.5-18607A= (n.5-18607A=)
c.-43-8037A= (n.-43-8037A=)
c.-98-32368A= (n.-98-32368A=)
n.97A=
n.4339A=
n.4380A=
17g.43082558_43082559delCA2580093817BRCA1c.4202_4203del (p.Gln1401ProfsTer2)
c.4076_4077del (p.Gln1359ProfsTer2)
c.4196_4197del (p.Gln1399ProfsTer2)
c.4124_4125del (p.Gln1375ProfsTer2)
c.890_891del (p.Gln297ProfsTer2)
c.752_753del (p.Gln251ProfsTer2)
c.3314_3315del (p.Gln1105ProfsTer2)
c.4079_4080del (p.Gln1360ProfsTer2)
c.4061_4062del (p.Gln1354ProfsTer2)
c.767_768del (p.Gln256ProfsTer2)
c.812_813del (p.Gln271ProfsTer2)
c.523_524del
c.776_777del (p.Gln259ProfsTer2)
c.*3985_*3986del (n.*3985_*3986del)
c.496_497del
c.893_894del (p.Gln298ProfsTer2)
c.515_516del (p.Gln172ProfsTer2)
c.518_519del (p.Gln173ProfsTer2)
c.5-18608_5-18607del (n.5-18608_5-18607del)
c.-43-8038_-43-8037del (n.-43-8038_-43-8037del)
c.-98-32369_-98-32368del (n.-98-32369_-98-32368del)
n.96_97del
n.4338_4339del
n.4379_4380del
 ClinVar
17g.43082559delCA2697559870BRCA1c.4203del (p.Gln1401HisfsTer4)
c.4077del (p.Gln1359HisfsTer4)
c.4197del (p.Gln1399HisfsTer4)
c.4125del (p.Gln1375HisfsTer4)
c.891del (p.Gln297HisfsTer4)
c.753del (p.Gln251HisfsTer4)
c.3315del (p.Gln1105HisfsTer4)
c.4080del (p.Gln1360HisfsTer4)
c.4062del (p.Gln1354HisfsTer4)
c.768del (p.Gln256HisfsTer4)
c.813del (p.Gln271HisfsTer4)
c.524del
c.777del (p.Gln259HisfsTer4)
c.*3986del (n.*3986del)
c.497del
c.894del (p.Gln298HisfsTer4)
c.516del (p.Gln172HisfsTer4)
c.519del (p.Gln173HisfsTer4)
c.5-18607del (n.5-18607del)
c.-43-8037del (n.-43-8037del)
c.-98-32368del (n.-98-32368del)
n.97del
n.4339del
n.4380del
 ClinVar
17g.43082559T>ACA10593315BRCA1c.4202A>T (p.Gln1401Leu)
c.4076A>T (p.Gln1359Leu)
c.4196A>T (p.Gln1399Leu)
c.4124A>T (p.Gln1375Leu)
c.890A>T (p.Gln297Leu)
c.752A>T (p.Gln251Leu)
c.3314A>T (p.Gln1105Leu)
c.4079A>T (p.Gln1360Leu)
c.4061A>T (p.Gln1354Leu)
c.767A>T (p.Gln256Leu)
c.812A>T (p.Gln271Leu)
c.523A>T
c.776A>T (p.Gln259Leu)
c.*3985A>T (n.*3985A>T)
c.496A>T
c.893A>T (p.Gln298Leu)
c.515A>T (p.Gln172Leu)
c.518A>T (p.Gln173Leu)
c.5-18608A>T (n.5-18608A>T)
c.-43-8038A>T (n.-43-8038A>T)
c.-98-32369A>T (n.-98-32369A>T)
n.96A>T
n.4338A>T
n.4379A>T
 dbSNP
17g.43082559T>CCA10593316BRCA1c.4202A>G (p.Gln1401Arg)
c.4076A>G (p.Gln1359Arg)
c.4196A>G (p.Gln1399Arg)
c.4124A>G (p.Gln1375Arg)
c.890A>G (p.Gln297Arg)
c.752A>G (p.Gln251Arg)
c.3314A>G (p.Gln1105Arg)
c.4079A>G (p.Gln1360Arg)
c.4061A>G (p.Gln1354Arg)
c.767A>G (p.Gln256Arg)
c.812A>G (p.Gln271Arg)
c.523A>G
c.776A>G (p.Gln259Arg)
c.*3985A>G (n.*3985A>G)
c.496A>G
c.893A>G (p.Gln298Arg)
c.515A>G (p.Gln172Arg)
c.518A>G (p.Gln173Arg)
c.5-18608A>G (n.5-18608A>G)
c.-43-8038A>G (n.-43-8038A>G)
c.-98-32369A>G (n.-98-32369A>G)
n.96A>G
n.4338A>G
n.4379A>G
17g.43082559T>GCA10593317BRCA1c.4202A>C (p.Gln1401Pro)
c.4076A>C (p.Gln1359Pro)
c.4196A>C (p.Gln1399Pro)
c.4124A>C (p.Gln1375Pro)
c.890A>C (p.Gln297Pro)
c.752A>C (p.Gln251Pro)
c.3314A>C (p.Gln1105Pro)
c.4079A>C (p.Gln1360Pro)
c.4061A>C (p.Gln1354Pro)
c.767A>C (p.Gln256Pro)
c.812A>C (p.Gln271Pro)
c.523A>C
c.776A>C (p.Gln259Pro)
c.*3985A>C (n.*3985A>C)
c.496A>C
c.893A>C (p.Gln298Pro)
c.515A>C (p.Gln172Pro)
c.518A>C (p.Gln173Pro)
c.5-18608A>C (n.5-18608A>C)
c.-43-8038A>C (n.-43-8038A>C)
c.-98-32369A>C (n.-98-32369A>C)
n.96A>C
n.4338A>C
n.4379A>C
17g.43082560G>ACA002705BRCA1c.4201C>T (p.Gln1401Ter)
c.4075C>T (p.Gln1359Ter)
c.4195C>T (p.Gln1399Ter)
c.4123C>T (p.Gln1375Ter)
c.889C>T (p.Gln297Ter)
c.751C>T (p.Gln251Ter)
c.3313C>T (p.Gln1105Ter)
c.4078C>T (p.Gln1360Ter)
c.4060C>T (p.Gln1354Ter)
c.766C>T (p.Gln256Ter)
c.811C>T (p.Gln271Ter)
c.522C>T
c.775C>T (p.Gln259Ter)
c.*3984C>T (n.*3984C>T)
c.495C>T
c.892C>T (p.Gln298Ter)
c.514C>T (p.Gln172Ter)
c.517C>T (p.Gln173Ter)
c.5-18609C>T (n.5-18609C>T)
c.-43-8039C>T (n.-43-8039C>T)
c.-98-32370C>T (n.-98-32370C>T)
n.95C>T
n.4337C>T
n.4378C>T
 ClinVar dbSNP
17g.43082560G>CCA10593318BRCA1c.4201C>G (p.Gln1401Glu)
c.4075C>G (p.Gln1359Glu)
c.4195C>G (p.Gln1399Glu)
c.4123C>G (p.Gln1375Glu)
c.889C>G (p.Gln297Glu)
c.751C>G (p.Gln251Glu)
c.3313C>G (p.Gln1105Glu)
c.4078C>G (p.Gln1360Glu)
c.4060C>G (p.Gln1354Glu)
c.766C>G (p.Gln256Glu)
c.811C>G (p.Gln271Glu)
c.522C>G
c.775C>G (p.Gln259Glu)
c.*3984C>G (n.*3984C>G)
c.495C>G
c.892C>G (p.Gln298Glu)
c.514C>G (p.Gln172Glu)
c.517C>G (p.Gln173Glu)
c.5-18609C>G (n.5-18609C>G)
c.-43-8039C>G (n.-43-8039C>G)
c.-98-32370C>G (n.-98-32370C>G)
n.95C>G
n.4337C>G
n.4378C>G
17g.43082560G=CA2260778078BRCA1c.4201C= (p.Gln1401=)
c.4075C= (p.Gln1359=)
c.4195C= (p.Gln1399=)
c.4123C= (p.Gln1375=)
c.889C= (p.Gln297=)
c.751C= (p.Gln251=)
c.3313C= (p.Gln1105=)
c.4078C= (p.Gln1360=)
c.4060C= (p.Gln1354=)
c.766C= (p.Gln256=)
c.811C= (p.Gln271=)
c.522C=
c.775C= (p.Gln259=)
c.*3984C= (n.*3984C=)
c.495C=
c.892C= (p.Gln298=)
c.514C= (p.Gln172=)
c.517C= (p.Gln173=)
c.5-18609C= (n.5-18609C=)
c.-43-8039C= (n.-43-8039C=)
c.-98-32370C= (n.-98-32370C=)
n.95C=
n.4337C=
n.4378C=
17g.43082560G>TCA10593319BRCA1c.4201C>A (p.Gln1401Lys)
c.4075C>A (p.Gln1359Lys)
c.4195C>A (p.Gln1399Lys)
c.4123C>A (p.Gln1375Lys)
c.889C>A (p.Gln297Lys)
c.751C>A (p.Gln251Lys)
c.3313C>A (p.Gln1105Lys)
c.4078C>A (p.Gln1360Lys)
c.4060C>A (p.Gln1354Lys)
c.766C>A (p.Gln256Lys)
c.811C>A (p.Gln271Lys)
c.522C>A
c.775C>A (p.Gln259Lys)
c.*3984C>A (n.*3984C>A)
c.495C>A
c.892C>A (p.Gln298Lys)
c.514C>A (p.Gln172Lys)
c.517C>A (p.Gln173Lys)
c.5-18609C>A (n.5-18609C>A)
c.-43-8039C>A (n.-43-8039C>A)
c.-98-32370C>A (n.-98-32370C>A)
n.95C>A
n.4337C>A
n.4378C>A
 ClinVar
17g.43082561C>ACA10593320BRCA1c.4200G>T (p.Met1400Ile)
c.4074G>T (p.Met1358Ile)
c.4194G>T (p.Met1398Ile)
c.4122G>T (p.Met1374Ile)
c.888G>T (p.Met296Ile)
c.750G>T (p.Met250Ile)
c.3312G>T (p.Met1104Ile)
c.4077G>T (p.Met1359Ile)
c.4059G>T (p.Met1353Ile)
c.765G>T (p.Met255Ile)
c.810G>T (p.Met270Ile)
c.521G>T
c.774G>T (p.Met258Ile)
c.*3983G>T (n.*3983G>T)
c.494G>T
c.891G>T (p.Met297Ile)
c.513G>T (p.Met171Ile)
c.516G>T (p.Met172Ile)
c.5-18610G>T (n.5-18610G>T)
c.-43-8040G>T (n.-43-8040G>T)
c.-98-32371G>T (n.-98-32371G>T)
n.94G>T
n.4336G>T
n.4377G>T
 dbSNP
17g.43082561C=CA2260778079BRCA1c.4200G= (p.Met1400=)
c.4074G= (p.Met1358=)
c.4194G= (p.Met1398=)
c.4122G= (p.Met1374=)
c.888G= (p.Met296=)
c.750G= (p.Met250=)
c.3312G= (p.Met1104=)
c.4077G= (p.Met1359=)
c.4059G= (p.Met1353=)
c.765G= (p.Met255=)
c.810G= (p.Met270=)
c.521G=
c.774G= (p.Met258=)
c.*3983G= (n.*3983G=)
c.494G=
c.891G= (p.Met297=)
c.513G= (p.Met171=)
c.516G= (p.Met172=)
c.5-18610G= (n.5-18610G=)
c.-43-8040G= (n.-43-8040G=)
c.-98-32371G= (n.-98-32371G=)
n.94G=
n.4336G=
n.4377G=
17g.43082561C>GCA10593321BRCA1c.4200G>C (p.Met1400Ile)
c.4074G>C (p.Met1358Ile)
c.4194G>C (p.Met1398Ile)
c.4122G>C (p.Met1374Ile)
c.888G>C (p.Met296Ile)
c.750G>C (p.Met250Ile)
c.3312G>C (p.Met1104Ile)
c.4077G>C (p.Met1359Ile)
c.4059G>C (p.Met1353Ile)
c.765G>C (p.Met255Ile)
c.810G>C (p.Met270Ile)
c.521G>C
c.774G>C (p.Met258Ile)
c.*3983G>C (n.*3983G>C)
c.494G>C
c.891G>C (p.Met297Ile)
c.513G>C (p.Met171Ile)
c.516G>C (p.Met172Ile)
c.5-18610G>C (n.5-18610G>C)
c.-43-8040G>C (n.-43-8040G>C)
c.-98-32371G>C (n.-98-32371G>C)
n.94G>C
n.4336G>C
n.4377G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082561C>TCA10593322BRCA1c.4200G>A (p.Met1400Ile)
c.4074G>A (p.Met1358Ile)
c.4194G>A (p.Met1398Ile)
c.4122G>A (p.Met1374Ile)
c.888G>A (p.Met296Ile)
c.750G>A (p.Met250Ile)
c.3312G>A (p.Met1104Ile)
c.4077G>A (p.Met1359Ile)
c.4059G>A (p.Met1353Ile)
c.765G>A (p.Met255Ile)
c.810G>A (p.Met270Ile)
c.521G>A
c.774G>A (p.Met258Ile)
c.*3983G>A (n.*3983G>A)
c.494G>A
c.891G>A (p.Met297Ile)
c.513G>A (p.Met171Ile)
c.516G>A (p.Met172Ile)
c.5-18610G>A (n.5-18610G>A)
c.-43-8040G>A (n.-43-8040G>A)
c.-98-32371G>A (n.-98-32371G>A)
n.94G>A
n.4336G>A
n.4377G>A
 dbSNP
17g.43082562A=CA2260778080BRCA1c.4199T= (p.Met1400=)
c.4073T= (p.Met1358=)
c.4193T= (p.Met1398=)
c.4121T= (p.Met1374=)
c.887T= (p.Met296=)
c.749T= (p.Met250=)
c.3311T= (p.Met1104=)
c.4076T= (p.Met1359=)
c.4058T= (p.Met1353=)
c.764T= (p.Met255=)
c.809T= (p.Met270=)
c.520T=
c.773T= (p.Met258=)
c.*3982T= (n.*3982T=)
c.493T=
c.890T= (p.Met297=)
c.512T= (p.Met171=)
c.515T= (p.Met172=)
c.5-18611T= (n.5-18611T=)
c.-43-8041T= (n.-43-8041T=)
c.-98-32372T= (n.-98-32372T=)
n.93T=
n.4335T=
n.4376T=
17g.43082562A>CCA10593323BRCA1c.4199T>G (p.Met1400Arg)
c.4073T>G (p.Met1358Arg)
c.4193T>G (p.Met1398Arg)
c.4121T>G (p.Met1374Arg)
c.887T>G (p.Met296Arg)
c.749T>G (p.Met250Arg)
c.3311T>G (p.Met1104Arg)
c.4076T>G (p.Met1359Arg)
c.4058T>G (p.Met1353Arg)
c.764T>G (p.Met255Arg)
c.809T>G (p.Met270Arg)
c.520T>G
c.773T>G (p.Met258Arg)
c.*3982T>G (n.*3982T>G)
c.493T>G
c.890T>G (p.Met297Arg)
c.512T>G (p.Met171Arg)
c.515T>G (p.Met172Arg)
c.5-18611T>G (n.5-18611T>G)
c.-43-8041T>G (n.-43-8041T>G)
c.-98-32372T>G (n.-98-32372T>G)
n.93T>G
n.4335T>G
n.4376T>G
17g.43082562A>GCA002704BRCA1c.4199T>C (p.Met1400Thr)
c.4073T>C (p.Met1358Thr)
c.4193T>C (p.Met1398Thr)
c.4121T>C (p.Met1374Thr)
c.887T>C (p.Met296Thr)
c.749T>C (p.Met250Thr)
c.3311T>C (p.Met1104Thr)
c.4076T>C (p.Met1359Thr)
c.4058T>C (p.Met1353Thr)
c.764T>C (p.Met255Thr)
c.809T>C (p.Met270Thr)
c.520T>C
c.773T>C (p.Met258Thr)
c.*3982T>C (n.*3982T>C)
c.493T>C
c.890T>C (p.Met297Thr)
c.512T>C (p.Met171Thr)
c.515T>C (p.Met172Thr)
c.5-18611T>C (n.5-18611T>C)
c.-43-8041T>C (n.-43-8041T>C)
c.-98-32372T>C (n.-98-32372T>C)
n.93T>C
n.4335T>C
n.4376T>C
 ClinVar dbSNP
17g.43082562A>TCA10593324BRCA1c.4199T>A (p.Met1400Lys)
c.4073T>A (p.Met1358Lys)
c.4193T>A (p.Met1398Lys)
c.4121T>A (p.Met1374Lys)
c.887T>A (p.Met296Lys)
c.749T>A (p.Met250Lys)
c.3311T>A (p.Met1104Lys)
c.4076T>A (p.Met1359Lys)
c.4058T>A (p.Met1353Lys)
c.764T>A (p.Met255Lys)
c.809T>A (p.Met270Lys)
c.520T>A
c.773T>A (p.Met258Lys)
c.*3982T>A (n.*3982T>A)
c.493T>A
c.890T>A (p.Met297Lys)
c.512T>A (p.Met171Lys)
c.515T>A (p.Met172Lys)
c.5-18611T>A (n.5-18611T>A)
c.-43-8041T>A (n.-43-8041T>A)
c.-98-32372T>A (n.-98-32372T>A)
n.93T>A
n.4335T>A
n.4376T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082563T>ACA10593325BRCA1c.4198A>T (p.Met1400Leu)
c.4072A>T (p.Met1358Leu)
c.4192A>T (p.Met1398Leu)
c.4120A>T (p.Met1374Leu)
c.886A>T (p.Met296Leu)
c.748A>T (p.Met250Leu)
c.3310A>T (p.Met1104Leu)
c.4075A>T (p.Met1359Leu)
c.4057A>T (p.Met1353Leu)
c.763A>T (p.Met255Leu)
c.808A>T (p.Met270Leu)
c.519A>T
c.772A>T (p.Met258Leu)
c.*3981A>T (n.*3981A>T)
c.492A>T
c.889A>T (p.Met297Leu)
c.511A>T (p.Met171Leu)
c.514A>T (p.Met172Leu)
c.5-18612A>T (n.5-18612A>T)
c.-43-8042A>T (n.-43-8042A>T)
c.-98-32373A>T (n.-98-32373A>T)
n.92A>T
n.4334A>T
n.4375A>T
17g.43082563T>CCA002703BRCA1c.4198A>G (p.Met1400Val)
c.4072A>G (p.Met1358Val)
c.4192A>G (p.Met1398Val)
c.4120A>G (p.Met1374Val)
c.886A>G (p.Met296Val)
c.748A>G (p.Met250Val)
c.3310A>G (p.Met1104Val)
c.4075A>G (p.Met1359Val)
c.4057A>G (p.Met1353Val)
c.763A>G (p.Met255Val)
c.808A>G (p.Met270Val)
c.519A>G
c.772A>G (p.Met258Val)
c.*3981A>G (n.*3981A>G)
c.492A>G
c.889A>G (p.Met297Val)
c.511A>G (p.Met171Val)
c.514A>G (p.Met172Val)
c.5-18612A>G (n.5-18612A>G)
c.-43-8042A>G (n.-43-8042A>G)
c.-98-32373A>G (n.-98-32373A>G)
n.92A>G
n.4334A>G
n.4375A>G
 ClinVar dbSNP gnomAD v4
17g.43082563T>GCA10593326BRCA1c.4198A>C (p.Met1400Leu)
c.4072A>C (p.Met1358Leu)
c.4192A>C (p.Met1398Leu)
c.4120A>C (p.Met1374Leu)
c.886A>C (p.Met296Leu)
c.748A>C (p.Met250Leu)
c.3310A>C (p.Met1104Leu)
c.4075A>C (p.Met1359Leu)
c.4057A>C (p.Met1353Leu)
c.763A>C (p.Met255Leu)
c.808A>C (p.Met270Leu)
c.519A>C
c.772A>C (p.Met258Leu)
c.*3981A>C (n.*3981A>C)
c.492A>C
c.889A>C (p.Met297Leu)
c.511A>C (p.Met171Leu)
c.514A>C (p.Met172Leu)
c.5-18612A>C (n.5-18612A>C)
c.-43-8042A>C (n.-43-8042A>C)
c.-98-32373A>C (n.-98-32373A>C)
n.92A>C
n.4334A>C
n.4375A>C
17g.43082563T=CA2260778081BRCA1c.4198A= (p.Met1400=)
c.4072A= (p.Met1358=)
c.4192A= (p.Met1398=)
c.4120A= (p.Met1374=)
c.886A= (p.Met296=)
c.748A= (p.Met250=)
c.3310A= (p.Met1104=)
c.4075A= (p.Met1359=)
c.4057A= (p.Met1353=)
c.763A= (p.Met255=)
c.808A= (p.Met270=)
c.519A=
c.772A= (p.Met258=)
c.*3981A= (n.*3981A=)
c.492A=
c.889A= (p.Met297=)
c.511A= (p.Met171=)
c.514A= (p.Met172=)
c.5-18612A= (n.5-18612A=)
c.-43-8042A= (n.-43-8042A=)
c.-98-32373A= (n.-98-32373A=)
n.92A=
n.4334A=
n.4375A=
17g.43082563_43082565delinsTGGCA2260778082BRCA1c.4196_4198delinsCCA (p.Thr1399=)
c.4070_4072delinsCCA (p.Thr1357=)
c.4190_4192delinsCCA (p.Thr1397=)
c.4118_4120delinsCCA (p.Thr1373=)
c.884_886delinsCCA (p.Thr295=)
c.746_748delinsCCA (p.Thr249=)
c.3308_3310delinsCCA (p.Thr1103=)
c.4073_4075delinsCCA (p.Thr1358=)
c.4055_4057delinsCCA (p.Thr1352=)
c.761_763delinsCCA (p.Thr254=)
c.806_808delinsCCA (p.Thr269=)
c.517_519delinsCCA
c.770_772delinsCCA (p.Thr257=)
c.*3979_*3981delinsCCA (n.*3979_*3981delinsCCA)
c.490_492delinsCCA
c.887_889delinsCCA (p.Thr296=)
c.509_511delinsCCA (p.Thr170=)
c.512_514delinsCCA (p.Thr171=)
c.5-18614_5-18612delinsCCA (n.5-18614_5-18612delinsCCA)
c.-43-8044_-43-8042delinsCCA (n.-43-8044_-43-8042delinsCCA)
c.-98-32375_-98-32373delinsCCA (n.-98-32375_-98-32373delinsCCA)
n.90_92delinsCCA
n.4332_4334delinsCCA
n.4373_4375delinsCCA
17g.43082564G>ACA500148431BRCA1c.4197C>T (p.Thr1399=)
c.4071C>T (p.Thr1357=)
c.4191C>T (p.Thr1397=)
c.4119C>T (p.Thr1373=)
c.885C>T (p.Thr295=)
c.747C>T (p.Thr249=)
c.3309C>T (p.Thr1103=)
c.4074C>T (p.Thr1358=)
c.4056C>T (p.Thr1352=)
c.762C>T (p.Thr254=)
c.807C>T (p.Thr269=)
c.518C>T
c.771C>T (p.Thr257=)
c.*3980C>T (n.*3980C>T)
c.491C>T
c.888C>T (p.Thr296=)
c.510C>T (p.Thr170=)
c.513C>T (p.Thr171=)
c.5-18613C>T (n.5-18613C>T)
c.-43-8043C>T (n.-43-8043C>T)
c.-98-32374C>T (n.-98-32374C>T)
n.91C>T
n.4333C>T
n.4374C>T
17g.43082564G>CCA10580529BRCA1c.4197C>G (p.Thr1399=)
c.4071C>G (p.Thr1357=)
c.4191C>G (p.Thr1397=)
c.4119C>G (p.Thr1373=)
c.885C>G (p.Thr295=)
c.747C>G (p.Thr249=)
c.3309C>G (p.Thr1103=)
c.4074C>G (p.Thr1358=)
c.4056C>G (p.Thr1352=)
c.762C>G (p.Thr254=)
c.807C>G (p.Thr269=)
c.518C>G
c.771C>G (p.Thr257=)
c.*3980C>G (n.*3980C>G)
c.491C>G
c.888C>G (p.Thr296=)
c.510C>G (p.Thr170=)
c.513C>G (p.Thr171=)
c.5-18613C>G (n.5-18613C>G)
c.-43-8043C>G (n.-43-8043C>G)
c.-98-32374C>G (n.-98-32374C>G)
n.91C>G
n.4333C>G
n.4374C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082564G=CA2260778084BRCA1c.4197C= (p.Thr1399=)
c.4071C= (p.Thr1357=)
c.4191C= (p.Thr1397=)
c.4119C= (p.Thr1373=)
c.885C= (p.Thr295=)
c.747C= (p.Thr249=)
c.3309C= (p.Thr1103=)
c.4074C= (p.Thr1358=)
c.4056C= (p.Thr1352=)
c.762C= (p.Thr254=)
c.807C= (p.Thr269=)
c.518C=
c.771C= (p.Thr257=)
c.*3980C= (n.*3980C=)
c.491C=
c.888C= (p.Thr296=)
c.510C= (p.Thr170=)
c.513C= (p.Thr171=)
c.5-18613C= (n.5-18613C=)
c.-43-8043C= (n.-43-8043C=)
c.-98-32374C= (n.-98-32374C=)
n.91C=
n.4333C=
n.4374C=
17g.43082564G>TCA500148432BRCA1c.4197C>A (p.Thr1399=)
c.4071C>A (p.Thr1357=)
c.4191C>A (p.Thr1397=)
c.4119C>A (p.Thr1373=)
c.885C>A (p.Thr295=)
c.747C>A (p.Thr249=)
c.3309C>A (p.Thr1103=)
c.4074C>A (p.Thr1358=)
c.4056C>A (p.Thr1352=)
c.762C>A (p.Thr254=)
c.807C>A (p.Thr269=)
c.518C>A
c.771C>A (p.Thr257=)
c.*3980C>A (n.*3980C>A)
c.491C>A
c.888C>A (p.Thr296=)
c.510C>A (p.Thr170=)
c.513C>A (p.Thr171=)
c.5-18613C>A (n.5-18613C>A)
c.-43-8043C>A (n.-43-8043C>A)
c.-98-32374C>A (n.-98-32374C>A)
n.91C>A
n.4333C>A
n.4374C>A
17g.43082564_43082565delinsACA891844426BRCA1c.4196_4197delinsT (p.Thr1399IlefsTer6)
c.4070_4071delinsT (p.Thr1357IlefsTer6)
c.4190_4191delinsT (p.Thr1397IlefsTer6)
c.4118_4119delinsT (p.Thr1373IlefsTer6)
c.884_885delinsT (p.Thr295IlefsTer6)
c.746_747delinsT (p.Thr249IlefsTer6)
c.3308_3309delinsT (p.Thr1103IlefsTer6)
c.4073_4074delinsT (p.Thr1358IlefsTer6)
c.4055_4056delinsT (p.Thr1352IlefsTer6)
c.761_762delinsT (p.Thr254IlefsTer6)
c.806_807delinsT (p.Thr269IlefsTer6)
c.517_518delinsT
c.770_771delinsT (p.Thr257IlefsTer6)
c.*3979_*3980delinsT (n.*3979_*3980delinsT)
c.490_491delinsT
c.887_888delinsT (p.Thr296IlefsTer6)
c.509_510delinsT (p.Thr170IlefsTer6)
c.512_513delinsT (p.Thr171IlefsTer6)
c.5-18614_5-18613delinsT (n.5-18614_5-18613delinsT)
c.-43-8044_-43-8043delinsT (n.-43-8044_-43-8043delinsT)
c.-98-32375_-98-32374delinsT (n.-98-32375_-98-32374delinsT)
n.90_91delinsT
n.4332_4333delinsT
n.4373_4374delinsT
 ClinVar dbSNP
17g.43082565delCA10589682BRCA1c.4197del (p.Met1400CysfsTer5)
c.4071del (p.Met1358CysfsTer5)
c.4191del (p.Met1398CysfsTer5)
c.4119del (p.Met1374CysfsTer5)
c.885del (p.Met296CysfsTer5)
c.747del (p.Met250CysfsTer5)
c.3309del (p.Met1104CysfsTer5)
c.4074del (p.Met1359CysfsTer5)
c.4056del (p.Met1353CysfsTer5)
c.762del (p.Met255CysfsTer5)
c.807del (p.Met270CysfsTer5)
c.518del
c.771del (p.Met258CysfsTer5)
c.*3980del (n.*3980del)
c.491del
c.888del (p.Met297CysfsTer5)
c.510del (p.Met171CysfsTer5)
c.513del (p.Met172CysfsTer5)
c.5-18613del (n.5-18613del)
c.-43-8043del (n.-43-8043del)
c.-98-32374del (n.-98-32374del)
n.91del
n.4333del
n.4374del
 ClinVar dbSNP
17g.43082564_43082566delinsGGTCA2260778083BRCA1c.4195_4197delinsACC (p.Thr1399=)
c.4069_4071delinsACC (p.Thr1357=)
c.4189_4191delinsACC (p.Thr1397=)
c.4117_4119delinsACC (p.Thr1373=)
c.883_885delinsACC (p.Thr295=)
c.745_747delinsACC (p.Thr249=)
c.3307_3309delinsACC (p.Thr1103=)
c.4072_4074delinsACC (p.Thr1358=)
c.4054_4056delinsACC (p.Thr1352=)
c.760_762delinsACC (p.Thr254=)
c.805_807delinsACC (p.Thr269=)
c.516_518delinsACC
c.769_771delinsACC (p.Thr257=)
c.*3978_*3980delinsACC (n.*3978_*3980delinsACC)
c.489_491delinsACC
c.886_888delinsACC (p.Thr296=)
c.508_510delinsACC (p.Thr170=)
c.511_513delinsACC (p.Thr171=)
c.5-18615_5-18613delinsACC (n.5-18615_5-18613delinsACC)
c.-43-8045_-43-8043delinsACC (n.-43-8045_-43-8043delinsACC)
c.-98-32376_-98-32374delinsACC (n.-98-32376_-98-32374delinsACC)
n.89_91delinsACC
n.4331_4333delinsACC
n.4372_4374delinsACC
17g.43082565G>ACA10593327BRCA1c.4196C>T (p.Thr1399Ile)
c.4070C>T (p.Thr1357Ile)
c.4190C>T (p.Thr1397Ile)
c.4118C>T (p.Thr1373Ile)
c.884C>T (p.Thr295Ile)
c.746C>T (p.Thr249Ile)
c.3308C>T (p.Thr1103Ile)
c.4073C>T (p.Thr1358Ile)
c.4055C>T (p.Thr1352Ile)
c.761C>T (p.Thr254Ile)
c.806C>T (p.Thr269Ile)
c.517C>T
c.770C>T (p.Thr257Ile)
c.*3979C>T (n.*3979C>T)
c.490C>T
c.887C>T (p.Thr296Ile)
c.509C>T (p.Thr170Ile)
c.512C>T (p.Thr171Ile)
c.5-18614C>T (n.5-18614C>T)
c.-43-8044C>T (n.-43-8044C>T)
c.-98-32375C>T (n.-98-32375C>T)
n.90C>T
n.4332C>T
n.4373C>T
 dbSNP
17g.43082565G>CCA10580530BRCA1c.4196C>G (p.Thr1399Ser)
c.4070C>G (p.Thr1357Ser)
c.4190C>G (p.Thr1397Ser)
c.4118C>G (p.Thr1373Ser)
c.884C>G (p.Thr295Ser)
c.746C>G (p.Thr249Ser)
c.3308C>G (p.Thr1103Ser)
c.4073C>G (p.Thr1358Ser)
c.4055C>G (p.Thr1352Ser)
c.761C>G (p.Thr254Ser)
c.806C>G (p.Thr269Ser)
c.517C>G
c.770C>G (p.Thr257Ser)
c.*3979C>G (n.*3979C>G)
c.490C>G
c.887C>G (p.Thr296Ser)
c.509C>G (p.Thr170Ser)
c.512C>G (p.Thr171Ser)
c.5-18614C>G (n.5-18614C>G)
c.-43-8044C>G (n.-43-8044C>G)
c.-98-32375C>G (n.-98-32375C>G)
n.90C>G
n.4332C>G
n.4373C>G
 ClinVar dbSNP COSMIC COSMIC
17g.43082565G=CA2260778086BRCA1c.4196C= (p.Thr1399=)
c.4070C= (p.Thr1357=)
c.4190C= (p.Thr1397=)
c.4118C= (p.Thr1373=)
c.884C= (p.Thr295=)
c.746C= (p.Thr249=)
c.3308C= (p.Thr1103=)
c.4073C= (p.Thr1358=)
c.4055C= (p.Thr1352=)
c.761C= (p.Thr254=)
c.806C= (p.Thr269=)
c.517C=
c.770C= (p.Thr257=)
c.*3979C= (n.*3979C=)
c.490C=
c.887C= (p.Thr296=)
c.509C= (p.Thr170=)
c.512C= (p.Thr171=)
c.5-18614C= (n.5-18614C=)
c.-43-8044C= (n.-43-8044C=)
c.-98-32375C= (n.-98-32375C=)
n.90C=
n.4332C=
n.4373C=
17g.43082565G>TCA10593328BRCA1c.4196C>A (p.Thr1399Asn)
c.4070C>A (p.Thr1357Asn)
c.4190C>A (p.Thr1397Asn)
c.4118C>A (p.Thr1373Asn)
c.884C>A (p.Thr295Asn)
c.746C>A (p.Thr249Asn)
c.3308C>A (p.Thr1103Asn)
c.4073C>A (p.Thr1358Asn)
c.4055C>A (p.Thr1352Asn)
c.761C>A (p.Thr254Asn)
c.806C>A (p.Thr269Asn)
c.517C>A
c.770C>A (p.Thr257Asn)
c.*3979C>A (n.*3979C>A)
c.490C>A
c.887C>A (p.Thr296Asn)
c.509C>A (p.Thr170Asn)
c.512C>A (p.Thr171Asn)
c.5-18614C>A (n.5-18614C>A)
c.-43-8044C>A (n.-43-8044C>A)
c.-98-32375C>A (n.-98-32375C>A)
n.90C>A
n.4332C>A
n.4373C>A
17g.43082565_43082566delCA002702BRCA1c.4195_4196del (p.Thr1399HisfsTer4)
c.4069_4070del (p.Thr1357HisfsTer4)
c.4189_4190del (p.Thr1397HisfsTer4)
c.4117_4118del (p.Thr1373HisfsTer4)
c.883_884del (p.Thr295HisfsTer4)
c.745_746del (p.Thr249HisfsTer4)
c.3307_3308del (p.Thr1103HisfsTer4)
c.4072_4073del (p.Thr1358HisfsTer4)
c.4054_4055del (p.Thr1352HisfsTer4)
c.760_761del (p.Thr254HisfsTer4)
c.805_806del (p.Thr269HisfsTer4)
c.516_517del
c.769_770del (p.Thr257HisfsTer4)
c.*3978_*3979del (n.*3978_*3979del)
c.489_490del
c.886_887del (p.Thr296HisfsTer4)
c.508_509del (p.Thr170HisfsTer4)
c.511_512del (p.Thr171HisfsTer4)
c.5-18615_5-18614del (n.5-18615_5-18614del)
c.-43-8045_-43-8044del (n.-43-8045_-43-8044del)
c.-98-32376_-98-32375del (n.-98-32376_-98-32375del)
n.89_90del
n.4331_4332del
n.4372_4373del
 ClinVar dbSNP
17g.43082565_43082566delinsGTCA2260778085BRCA1c.4195_4196delinsAC (p.Thr1399=)
c.4069_4070delinsAC (p.Thr1357=)
c.4189_4190delinsAC (p.Thr1397=)
c.4117_4118delinsAC (p.Thr1373=)
c.883_884delinsAC (p.Thr295=)
c.745_746delinsAC (p.Thr249=)
c.3307_3308delinsAC (p.Thr1103=)
c.4072_4073delinsAC (p.Thr1358=)
c.4054_4055delinsAC (p.Thr1352=)
c.760_761delinsAC (p.Thr254=)
c.805_806delinsAC (p.Thr269=)
c.516_517delinsAC
c.769_770delinsAC (p.Thr257=)
c.*3978_*3979delinsAC (n.*3978_*3979delinsAC)
c.489_490delinsAC
c.886_887delinsAC (p.Thr296=)
c.508_509delinsAC (p.Thr170=)
c.511_512delinsAC (p.Thr171=)
c.5-18615_5-18614delinsAC (n.5-18615_5-18614delinsAC)
c.-43-8045_-43-8044delinsAC (n.-43-8045_-43-8044delinsAC)
c.-98-32376_-98-32375delinsAC (n.-98-32376_-98-32375delinsAC)
n.89_90delinsAC
n.4331_4332delinsAC
n.4372_4373delinsAC
17g.43082566delCA891844427BRCA1c.4195del (p.Thr1399ProfsTer6)
c.4069del (p.Thr1357ProfsTer6)
c.4189del (p.Thr1397ProfsTer6)
c.4117del (p.Thr1373ProfsTer6)
c.883del (p.Thr295ProfsTer6)
c.745del (p.Thr249ProfsTer6)
c.3307del (p.Thr1103ProfsTer6)
c.4072del (p.Thr1358ProfsTer6)
c.4054del (p.Thr1352ProfsTer6)
c.760del (p.Thr254ProfsTer6)
c.805del (p.Thr269ProfsTer6)
c.516del
c.769del (p.Thr257ProfsTer6)
c.*3978del (n.*3978del)
c.489del
c.886del (p.Thr296ProfsTer6)
c.508del (p.Thr170ProfsTer6)
c.511del (p.Thr171ProfsTer6)
c.5-18615del (n.5-18615del)
c.-43-8045del (n.-43-8045del)
c.-98-32376del (n.-98-32376del)
n.89del
n.4331del
n.4372del
 ClinVar dbSNP
17g.43082566T>ACA10593329BRCA1c.4195A>T (p.Thr1399Ser)
c.4069A>T (p.Thr1357Ser)
c.4189A>T (p.Thr1397Ser)
c.4117A>T (p.Thr1373Ser)
c.883A>T (p.Thr295Ser)
c.745A>T (p.Thr249Ser)
c.3307A>T (p.Thr1103Ser)
c.4072A>T (p.Thr1358Ser)
c.4054A>T (p.Thr1352Ser)
c.760A>T (p.Thr254Ser)
c.805A>T (p.Thr269Ser)
c.516A>T
c.769A>T (p.Thr257Ser)
c.*3978A>T (n.*3978A>T)
c.489A>T
c.886A>T (p.Thr296Ser)
c.508A>T (p.Thr170Ser)
c.511A>T (p.Thr171Ser)
c.5-18615A>T (n.5-18615A>T)
c.-43-8045A>T (n.-43-8045A>T)
c.-98-32376A>T (n.-98-32376A>T)
n.89A>T
n.4331A>T
n.4372A>T
17g.43082566T>CCA10593330BRCA1c.4195A>G (p.Thr1399Ala)
c.4069A>G (p.Thr1357Ala)
c.4189A>G (p.Thr1397Ala)
c.4117A>G (p.Thr1373Ala)
c.883A>G (p.Thr295Ala)
c.745A>G (p.Thr249Ala)
c.3307A>G (p.Thr1103Ala)
c.4072A>G (p.Thr1358Ala)
c.4054A>G (p.Thr1352Ala)
c.760A>G (p.Thr254Ala)
c.805A>G (p.Thr269Ala)
c.516A>G
c.769A>G (p.Thr257Ala)
c.*3978A>G (n.*3978A>G)
c.489A>G
c.886A>G (p.Thr296Ala)
c.508A>G (p.Thr170Ala)
c.511A>G (p.Thr171Ala)
c.5-18615A>G (n.5-18615A>G)
c.-43-8045A>G (n.-43-8045A>G)
c.-98-32376A>G (n.-98-32376A>G)
n.89A>G
n.4331A>G
n.4372A>G
 ClinVar dbSNP
17g.43082566T>GCA10593331BRCA1c.4195A>C (p.Thr1399Pro)
c.4069A>C (p.Thr1357Pro)
c.4189A>C (p.Thr1397Pro)
c.4117A>C (p.Thr1373Pro)
c.883A>C (p.Thr295Pro)
c.745A>C (p.Thr249Pro)
c.3307A>C (p.Thr1103Pro)
c.4072A>C (p.Thr1358Pro)
c.4054A>C (p.Thr1352Pro)
c.760A>C (p.Thr254Pro)
c.805A>C (p.Thr269Pro)
c.516A>C
c.769A>C (p.Thr257Pro)
c.*3978A>C (n.*3978A>C)
c.489A>C
c.886A>C (p.Thr296Pro)
c.508A>C (p.Thr170Pro)
c.511A>C (p.Thr171Pro)
c.5-18615A>C (n.5-18615A>C)
c.-43-8045A>C (n.-43-8045A>C)
c.-98-32376A>C (n.-98-32376A>C)
n.89A>C
n.4331A>C
n.4372A>C
17g.43082566T=CA2260778087BRCA1c.4195A= (p.Thr1399=)
c.4069A= (p.Thr1357=)
c.4189A= (p.Thr1397=)
c.4117A= (p.Thr1373=)
c.883A= (p.Thr295=)
c.745A= (p.Thr249=)
c.3307A= (p.Thr1103=)
c.4072A= (p.Thr1358=)
c.4054A= (p.Thr1352=)
c.760A= (p.Thr254=)
c.805A= (p.Thr269=)
c.516A=
c.769A= (p.Thr257=)
c.*3978A= (n.*3978A=)
c.489A=
c.886A= (p.Thr296=)
c.508A= (p.Thr170=)
c.511A= (p.Thr171=)
c.5-18615A= (n.5-18615A=)
c.-43-8045A= (n.-43-8045A=)
c.-98-32376A= (n.-98-32376A=)
n.89A=
n.4331A=
n.4372A=
17g.43082566_43082567insCCCA658825022BRCA1c.4194_4195insGG (p.Thr1399GlyfsTer7)
c.4068_4069insGG (p.Thr1357GlyfsTer7)
c.4188_4189insGG (p.Thr1397GlyfsTer7)
c.4116_4117insGG (p.Thr1373GlyfsTer7)
c.882_883insGG (p.Thr295GlyfsTer7)
c.744_745insGG (p.Thr249GlyfsTer7)
c.3306_3307insGG (p.Thr1103GlyfsTer7)
c.4071_4072insGG (p.Thr1358GlyfsTer7)
c.4053_4054insGG (p.Thr1352GlyfsTer7)
c.759_760insGG (p.Thr254GlyfsTer7)
c.804_805insGG (p.Thr269GlyfsTer7)
c.515_516insGG
c.768_769insGG (p.Thr257GlyfsTer7)
c.*3977_*3978insGG (n.*3977_*3978insGG)
c.488_489insGG
c.885_886insGG (p.Thr296GlyfsTer7)
c.507_508insGG (p.Thr170GlyfsTer7)
c.510_511insGG (p.Thr171GlyfsTer7)
c.5-18616_5-18615insGG (n.5-18616_5-18615insGG)
c.-43-8046_-43-8045insGG (n.-43-8046_-43-8045insGG)
c.-98-32377_-98-32376insGG (n.-98-32377_-98-32376insGG)
n.88_89insGG
n.4330_4331insGG
n.4371_4372insGG
 ClinVar dbSNP
17g.43082567A=CA2260778088BRCA1c.4194T= (p.Asp1398=)
c.4068T= (p.Asp1356=)
c.4188T= (p.Asp1396=)
c.4116T= (p.Asp1372=)
c.882T= (p.Asp294=)
c.744T= (p.Asp248=)
c.3306T= (p.Asp1102=)
c.4071T= (p.Asp1357=)
c.4053T= (p.Asp1351=)
c.759T= (p.Asp253=)
c.804T= (p.Asp268=)
c.515T=
c.768T= (p.Asp256=)
c.*3977T= (n.*3977T=)
c.488T=
c.885T= (p.Asp295=)
c.507T= (p.Asp169=)
c.510T= (p.Asp170=)
c.5-18616T= (n.5-18616T=)
c.-43-8046T= (n.-43-8046T=)
c.-98-32377T= (n.-98-32377T=)
n.88T=
n.4330T=
n.4371T=
17g.43082567A>CCA10593332BRCA1c.4194T>G (p.Asp1398Glu)
c.4068T>G (p.Asp1356Glu)
c.4188T>G (p.Asp1396Glu)
c.4116T>G (p.Asp1372Glu)
c.882T>G (p.Asp294Glu)
c.744T>G (p.Asp248Glu)
c.3306T>G (p.Asp1102Glu)
c.4071T>G (p.Asp1357Glu)
c.4053T>G (p.Asp1351Glu)
c.759T>G (p.Asp253Glu)
c.804T>G (p.Asp268Glu)
c.515T>G
c.768T>G (p.Asp256Glu)
c.*3977T>G (n.*3977T>G)
c.488T>G
c.885T>G (p.Asp295Glu)
c.507T>G (p.Asp169Glu)
c.510T>G (p.Asp170Glu)
c.5-18616T>G (n.5-18616T>G)
c.-43-8046T>G (n.-43-8046T>G)
c.-98-32377T>G (n.-98-32377T>G)
n.88T>G
n.4330T>G
n.4371T>G
 dbSNP
17g.43082567A>GCA500148433BRCA1c.4194T>C (p.Asp1398=)
c.4068T>C (p.Asp1356=)
c.4188T>C (p.Asp1396=)
c.4116T>C (p.Asp1372=)
c.882T>C (p.Asp294=)
c.744T>C (p.Asp248=)
c.3306T>C (p.Asp1102=)
c.4071T>C (p.Asp1357=)
c.4053T>C (p.Asp1351=)
c.759T>C (p.Asp253=)
c.804T>C (p.Asp268=)
c.515T>C
c.768T>C (p.Asp256=)
c.*3977T>C (n.*3977T>C)
c.488T>C
c.885T>C (p.Asp295=)
c.507T>C (p.Asp169=)
c.510T>C (p.Asp170=)
c.5-18616T>C (n.5-18616T>C)
c.-43-8046T>C (n.-43-8046T>C)
c.-98-32377T>C (n.-98-32377T>C)
n.88T>C
n.4330T>C
n.4371T>C
17g.43082567A>TCA10593333BRCA1c.4194T>A (p.Asp1398Glu)
c.4068T>A (p.Asp1356Glu)
c.4188T>A (p.Asp1396Glu)
c.4116T>A (p.Asp1372Glu)
c.882T>A (p.Asp294Glu)
c.744T>A (p.Asp248Glu)
c.3306T>A (p.Asp1102Glu)
c.4071T>A (p.Asp1357Glu)
c.4053T>A (p.Asp1351Glu)
c.759T>A (p.Asp253Glu)
c.804T>A (p.Asp268Glu)
c.515T>A
c.768T>A (p.Asp256Glu)
c.*3977T>A (n.*3977T>A)
c.488T>A
c.885T>A (p.Asp295Glu)
c.507T>A (p.Asp169Glu)
c.510T>A (p.Asp170Glu)
c.5-18616T>A (n.5-18616T>A)
c.-43-8046T>A (n.-43-8046T>A)
c.-98-32377T>A (n.-98-32377T>A)
n.88T>A
n.4330T>A
n.4371T>A
 dbSNP
17g.43082567_43082568insCCCA10586610BRCA1c.4193_4194insGG (p.Asp1398GlufsTer8)
c.4067_4068insGG (p.Asp1356GlufsTer8)
c.4187_4188insGG (p.Asp1396GlufsTer8)
c.4115_4116insGG (p.Asp1372GlufsTer8)
c.881_882insGG (p.Asp294GlufsTer8)
c.743_744insGG (p.Asp248GlufsTer8)
c.3305_3306insGG (p.Asp1102GlufsTer8)
c.4070_4071insGG (p.Asp1357GlufsTer8)
c.4052_4053insGG (p.Asp1351GlufsTer8)
c.758_759insGG (p.Asp253GlufsTer8)
c.803_804insGG (p.Asp268GlufsTer8)
c.514_515insGG
c.767_768insGG (p.Asp256GlufsTer8)
c.*3976_*3977insGG (n.*3976_*3977insGG)
c.487_488insGG
c.884_885insGG (p.Asp295GlufsTer8)
c.506_507insGG (p.Asp169GlufsTer8)
c.509_510insGG (p.Asp170GlufsTer8)
c.5-18617_5-18616insGG (n.5-18617_5-18616insGG)
c.-43-8047_-43-8046insGG (n.-43-8047_-43-8046insGG)
c.-98-32378_-98-32377insGG (n.-98-32378_-98-32377insGG)
n.87_88insGG
n.4329_4330insGG
n.4370_4371insGG
 ClinVar dbSNP
17g.43082568T>ACA059645BRCA1c.4193A>T (p.Asp1398Val)
c.4067A>T (p.Asp1356Val)
c.4187A>T (p.Asp1396Val)
c.4115A>T (p.Asp1372Val)
c.881A>T (p.Asp294Val)
c.743A>T (p.Asp248Val)
c.3305A>T (p.Asp1102Val)
c.4070A>T (p.Asp1357Val)
c.4052A>T (p.Asp1351Val)
c.758A>T (p.Asp253Val)
c.803A>T (p.Asp268Val)
c.514A>T
c.767A>T (p.Asp256Val)
c.*3976A>T (n.*3976A>T)
c.487A>T
c.884A>T (p.Asp295Val)
c.506A>T (p.Asp169Val)
c.509A>T (p.Asp170Val)
c.5-18617A>T (n.5-18617A>T)
c.-43-8047A>T (n.-43-8047A>T)
c.-98-32378A>T (n.-98-32378A>T)
n.87A>T
n.4329A>T
n.4370A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082568T>CCA336261BRCA1c.4193A>G (p.Asp1398Gly)
c.4067A>G (p.Asp1356Gly)
c.4187A>G (p.Asp1396Gly)
c.4115A>G (p.Asp1372Gly)
c.881A>G (p.Asp294Gly)
c.743A>G (p.Asp248Gly)
c.3305A>G (p.Asp1102Gly)
c.4070A>G (p.Asp1357Gly)
c.4052A>G (p.Asp1351Gly)
c.758A>G (p.Asp253Gly)
c.803A>G (p.Asp268Gly)
c.514A>G
c.767A>G (p.Asp256Gly)
c.*3976A>G (n.*3976A>G)
c.487A>G
c.884A>G (p.Asp295Gly)
c.506A>G (p.Asp169Gly)
c.509A>G (p.Asp170Gly)
c.5-18617A>G (n.5-18617A>G)
c.-43-8047A>G (n.-43-8047A>G)
c.-98-32378A>G (n.-98-32378A>G)
n.87A>G
n.4329A>G
n.4370A>G
 ClinVar dbSNP gnomAD v4
17g.43082568T>GCA10593334BRCA1c.4193A>C (p.Asp1398Ala)
c.4067A>C (p.Asp1356Ala)
c.4187A>C (p.Asp1396Ala)
c.4115A>C (p.Asp1372Ala)
c.881A>C (p.Asp294Ala)
c.743A>C (p.Asp248Ala)
c.3305A>C (p.Asp1102Ala)
c.4070A>C (p.Asp1357Ala)
c.4052A>C (p.Asp1351Ala)
c.758A>C (p.Asp253Ala)
c.803A>C (p.Asp268Ala)
c.514A>C
c.767A>C (p.Asp256Ala)
c.*3976A>C (n.*3976A>C)
c.487A>C
c.884A>C (p.Asp295Ala)
c.506A>C (p.Asp169Ala)
c.509A>C (p.Asp170Ala)
c.5-18617A>C (n.5-18617A>C)
c.-43-8047A>C (n.-43-8047A>C)
c.-98-32378A>C (n.-98-32378A>C)
n.87A>C
n.4329A>C
n.4370A>C
17g.43082568T=CA2260778089BRCA1c.4193A= (p.Asp1398=)
c.4067A= (p.Asp1356=)
c.4187A= (p.Asp1396=)
c.4115A= (p.Asp1372=)
c.881A= (p.Asp294=)
c.743A= (p.Asp248=)
c.3305A= (p.Asp1102=)
c.4070A= (p.Asp1357=)
c.4052A= (p.Asp1351=)
c.758A= (p.Asp253=)
c.803A= (p.Asp268=)
c.514A=
c.767A= (p.Asp256=)
c.*3976A= (n.*3976A=)
c.487A=
c.884A= (p.Asp295=)
c.506A= (p.Asp169=)
c.509A= (p.Asp170=)
c.5-18617A= (n.5-18617A=)
c.-43-8047A= (n.-43-8047A=)
c.-98-32378A= (n.-98-32378A=)
n.87A=
n.4329A=
n.4370A=
17g.43082568dupCA2499224429BRCA1c.4193dup (p.Asp1398GlufsTer6)
c.4067dup (p.Asp1356GlufsTer6)
c.4187dup (p.Asp1396GlufsTer6)
c.4115dup (p.Asp1372GlufsTer6)
c.881dup (p.Asp294GlufsTer6)
c.743dup (p.Asp248GlufsTer6)
c.3305dup (p.Asp1102GlufsTer6)
c.4070dup (p.Asp1357GlufsTer6)
c.4052dup (p.Asp1351GlufsTer6)
c.758dup (p.Asp253GlufsTer6)
c.803dup (p.Asp268GlufsTer6)
c.514dup
c.767dup (p.Asp256GlufsTer6)
c.*3976dup (n.*3976dup)
c.487dup
c.884dup (p.Asp295GlufsTer6)
c.506dup (p.Asp169GlufsTer6)
c.509dup (p.Asp170GlufsTer6)
c.5-18617dup (n.5-18617dup)
c.-43-8047dup (n.-43-8047dup)
c.-98-32378dup (n.-98-32378dup)
n.87dup
n.4329dup
n.4370dup
17g.43082569C>ACA10580531BRCA1c.4192G>T (p.Asp1398Tyr)
c.4066G>T (p.Asp1356Tyr)
c.4186G>T (p.Asp1396Tyr)
c.4114G>T (p.Asp1372Tyr)
c.880G>T (p.Asp294Tyr)
c.742G>T (p.Asp248Tyr)
c.3304G>T (p.Asp1102Tyr)
c.4069G>T (p.Asp1357Tyr)
c.4051G>T (p.Asp1351Tyr)
c.757G>T (p.Asp253Tyr)
c.802G>T (p.Asp268Tyr)
c.513G>T
c.766G>T (p.Asp256Tyr)
c.*3975G>T (n.*3975G>T)
c.486G>T
c.883G>T (p.Asp295Tyr)
c.505G>T (p.Asp169Tyr)
c.508G>T (p.Asp170Tyr)
c.5-18618G>T (n.5-18618G>T)
c.-43-8048G>T (n.-43-8048G>T)
c.-98-32379G>T (n.-98-32379G>T)
n.86G>T
n.4328G>T
n.4369G>T
 ClinVar dbSNP
17g.43082569C=CA2260778090BRCA1c.4192G= (p.Asp1398=)
c.4066G= (p.Asp1356=)
c.4186G= (p.Asp1396=)
c.4114G= (p.Asp1372=)
c.880G= (p.Asp294=)
c.742G= (p.Asp248=)
c.3304G= (p.Asp1102=)
c.4069G= (p.Asp1357=)
c.4051G= (p.Asp1351=)
c.757G= (p.Asp253=)
c.802G= (p.Asp268=)
c.513G=
c.766G= (p.Asp256=)
c.*3975G= (n.*3975G=)
c.486G=
c.883G= (p.Asp295=)
c.505G= (p.Asp169=)
c.508G= (p.Asp170=)
c.5-18618G= (n.5-18618G=)
c.-43-8048G= (n.-43-8048G=)
c.-98-32379G= (n.-98-32379G=)
n.86G=
n.4328G=
n.4369G=
17g.43082569C>GCA10593335BRCA1c.4192G>C (p.Asp1398His)
c.4066G>C (p.Asp1356His)
c.4186G>C (p.Asp1396His)
c.4114G>C (p.Asp1372His)
c.880G>C (p.Asp294His)
c.742G>C (p.Asp248His)
c.3304G>C (p.Asp1102His)
c.4069G>C (p.Asp1357His)
c.4051G>C (p.Asp1351His)
c.757G>C (p.Asp253His)
c.802G>C (p.Asp268His)
c.513G>C
c.766G>C (p.Asp256His)
c.*3975G>C (n.*3975G>C)
c.486G>C
c.883G>C (p.Asp295His)
c.505G>C (p.Asp169His)
c.508G>C (p.Asp170His)
c.5-18618G>C (n.5-18618G>C)
c.-43-8048G>C (n.-43-8048G>C)
c.-98-32379G>C (n.-98-32379G>C)
n.86G>C
n.4328G>C
n.4369G>C
17g.43082569C>TCA10593336BRCA1c.4192G>A (p.Asp1398Asn)
c.4066G>A (p.Asp1356Asn)
c.4186G>A (p.Asp1396Asn)
c.4114G>A (p.Asp1372Asn)
c.880G>A (p.Asp294Asn)
c.742G>A (p.Asp248Asn)
c.3304G>A (p.Asp1102Asn)
c.4069G>A (p.Asp1357Asn)
c.4051G>A (p.Asp1351Asn)
c.757G>A (p.Asp253Asn)
c.802G>A (p.Asp268Asn)
c.513G>A
c.766G>A (p.Asp256Asn)
c.*3975G>A (n.*3975G>A)
c.486G>A
c.883G>A (p.Asp295Asn)
c.505G>A (p.Asp169Asn)
c.508G>A (p.Asp170Asn)
c.5-18618G>A (n.5-18618G>A)
c.-43-8048G>A (n.-43-8048G>A)
c.-98-32379G>A (n.-98-32379G>A)
n.86G>A
n.4328G>A
n.4369G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082571delCA2695201340BRCA1c.4192del (p.Asp1398IlefsTer7)
c.4066del (p.Asp1356IlefsTer7)
c.4186del (p.Asp1396IlefsTer7)
c.4114del (p.Asp1372IlefsTer7)
c.880del (p.Asp294IlefsTer7)
c.742del (p.Asp248IlefsTer7)
c.3304del (p.Asp1102IlefsTer7)
c.4069del (p.Asp1357IlefsTer7)
c.4051del (p.Asp1351IlefsTer7)
c.757del (p.Asp253IlefsTer7)
c.802del (p.Asp268IlefsTer7)
c.513del
c.766del (p.Asp256IlefsTer7)
c.*3975del (n.*3975del)
c.486del
c.883del (p.Asp295IlefsTer7)
c.505del (p.Asp169IlefsTer7)
c.508del (p.Asp170IlefsTer7)
c.5-18618del (n.5-18618del)
c.-43-8048del (n.-43-8048del)
c.-98-32379del (n.-98-32379del)
n.86del
n.4328del
n.4369del
 ClinVar
17g.43082570C>ACA10593337BRCA1c.4191G>T (p.Arg1397Ser)
c.4065G>T (p.Arg1355Ser)
c.4185G>T (p.Arg1395Ser)
c.4113G>T (p.Arg1371Ser)
c.879G>T (p.Arg293Ser)
c.741G>T (p.Arg247Ser)
c.3303G>T (p.Arg1101Ser)
c.4068G>T (p.Arg1356Ser)
c.4050G>T (p.Arg1350Ser)
c.756G>T (p.Arg252Ser)
c.801G>T (p.Arg267Ser)
c.512G>T
c.765G>T (p.Arg255Ser)
c.*3974G>T (n.*3974G>T)
c.485G>T
c.882G>T (p.Arg294Ser)
c.504G>T (p.Arg168Ser)
c.507G>T (p.Arg169Ser)
c.5-18619G>T (n.5-18619G>T)
c.-43-8049G>T (n.-43-8049G>T)
c.-98-32380G>T (n.-98-32380G>T)
n.85G>T
n.4327G>T
n.4368G>T
 ClinVar dbSNP
17g.43082570C=CA2260778091BRCA1c.4191G= (p.Arg1397=)
c.4065G= (p.Arg1355=)
c.4185G= (p.Arg1395=)
c.4113G= (p.Arg1371=)
c.879G= (p.Arg293=)
c.741G= (p.Arg247=)
c.3303G= (p.Arg1101=)
c.4068G= (p.Arg1356=)
c.4050G= (p.Arg1350=)
c.756G= (p.Arg252=)
c.801G= (p.Arg267=)
c.512G=
c.765G= (p.Arg255=)
c.*3974G= (n.*3974G=)
c.485G=
c.882G= (p.Arg294=)
c.504G= (p.Arg168=)
c.507G= (p.Arg169=)
c.5-18619G= (n.5-18619G=)
c.-43-8049G= (n.-43-8049G=)
c.-98-32380G= (n.-98-32380G=)
n.85G=
n.4327G=
n.4368G=
17g.43082570C>GCA10593338BRCA1c.4191G>C (p.Arg1397Ser)
c.4065G>C (p.Arg1355Ser)
c.4185G>C (p.Arg1395Ser)
c.4113G>C (p.Arg1371Ser)
c.879G>C (p.Arg293Ser)
c.741G>C (p.Arg247Ser)
c.3303G>C (p.Arg1101Ser)
c.4068G>C (p.Arg1356Ser)
c.4050G>C (p.Arg1350Ser)
c.756G>C (p.Arg252Ser)
c.801G>C (p.Arg267Ser)
c.512G>C
c.765G>C (p.Arg255Ser)
c.*3974G>C (n.*3974G>C)
c.485G>C
c.882G>C (p.Arg294Ser)
c.504G>C (p.Arg168Ser)
c.507G>C (p.Arg169Ser)
c.5-18619G>C (n.5-18619G>C)
c.-43-8049G>C (n.-43-8049G>C)
c.-98-32380G>C (n.-98-32380G>C)
n.85G>C
n.4327G>C
n.4368G>C
 dbSNP
17g.43082570C>TCA500148434BRCA1c.4191G>A (p.Arg1397=)
c.4065G>A (p.Arg1355=)
c.4185G>A (p.Arg1395=)
c.4113G>A (p.Arg1371=)
c.879G>A (p.Arg293=)
c.741G>A (p.Arg247=)
c.3303G>A (p.Arg1101=)
c.4068G>A (p.Arg1356=)
c.4050G>A (p.Arg1350=)
c.756G>A (p.Arg252=)
c.801G>A (p.Arg267=)
c.512G>A
c.765G>A (p.Arg255=)
c.*3974G>A (n.*3974G>A)
c.485G>A
c.882G>A (p.Arg294=)
c.504G>A (p.Arg168=)
c.507G>A (p.Arg169=)
c.5-18619G>A (n.5-18619G>A)
c.-43-8049G>A (n.-43-8049G>A)
c.-98-32380G>A (n.-98-32380G>A)
n.85G>A
n.4327G>A
n.4368G>A
 ClinVar dbSNP
17g.43082571C>ACA10593339BRCA1c.4190G>T (p.Arg1397Met)
c.4064G>T (p.Arg1355Met)
c.4184G>T (p.Arg1395Met)
c.4112G>T (p.Arg1371Met)
c.878G>T (p.Arg293Met)
c.740G>T (p.Arg247Met)
c.3302G>T (p.Arg1101Met)
c.4067G>T (p.Arg1356Met)
c.4049G>T (p.Arg1350Met)
c.755G>T (p.Arg252Met)
c.800G>T (p.Arg267Met)
c.511G>T
c.764G>T (p.Arg255Met)
c.*3973G>T (n.*3973G>T)
c.484G>T
c.881G>T (p.Arg294Met)
c.503G>T (p.Arg168Met)
c.506G>T (p.Arg169Met)
c.5-18620G>T (n.5-18620G>T)
c.-43-8050G>T (n.-43-8050G>T)
c.-98-32381G>T (n.-98-32381G>T)
n.84G>T
n.4326G>T
n.4367G>T
 dbSNP COSMIC COSMIC
17g.43082571C=CA2260778093BRCA1c.4190G= (p.Arg1397=)
c.4064G= (p.Arg1355=)
c.4184G= (p.Arg1395=)
c.4112G= (p.Arg1371=)
c.878G= (p.Arg293=)
c.740G= (p.Arg247=)
c.3302G= (p.Arg1101=)
c.4067G= (p.Arg1356=)
c.4049G= (p.Arg1350=)
c.755G= (p.Arg252=)
c.800G= (p.Arg267=)
c.511G=
c.764G= (p.Arg255=)
c.*3973G= (n.*3973G=)
c.484G=
c.881G= (p.Arg294=)
c.503G= (p.Arg168=)
c.506G= (p.Arg169=)
c.5-18620G= (n.5-18620G=)
c.-43-8050G= (n.-43-8050G=)
c.-98-32381G= (n.-98-32381G=)
n.84G=
n.4326G=
n.4367G=
17g.43082571C>GCA10593340BRCA1c.4190G>C (p.Arg1397Thr)
c.4064G>C (p.Arg1355Thr)
c.4184G>C (p.Arg1395Thr)
c.4112G>C (p.Arg1371Thr)
c.878G>C (p.Arg293Thr)
c.740G>C (p.Arg247Thr)
c.3302G>C (p.Arg1101Thr)
c.4067G>C (p.Arg1356Thr)
c.4049G>C (p.Arg1350Thr)
c.755G>C (p.Arg252Thr)
c.800G>C (p.Arg267Thr)
c.511G>C
c.764G>C (p.Arg255Thr)
c.*3973G>C (n.*3973G>C)
c.484G>C
c.881G>C (p.Arg294Thr)
c.503G>C (p.Arg168Thr)
c.506G>C (p.Arg169Thr)
c.5-18620G>C (n.5-18620G>C)
c.-43-8050G>C (n.-43-8050G>C)
c.-98-32381G>C (n.-98-32381G>C)
n.84G>C
n.4326G>C
n.4367G>C
 dbSNP
17g.43082571C>TCA059639BRCA1c.4190G>A (p.Arg1397Lys)
c.4064G>A (p.Arg1355Lys)
c.4184G>A (p.Arg1395Lys)
c.4112G>A (p.Arg1371Lys)
c.878G>A (p.Arg293Lys)
c.740G>A (p.Arg247Lys)
c.3302G>A (p.Arg1101Lys)
c.4067G>A (p.Arg1356Lys)
c.4049G>A (p.Arg1350Lys)
c.755G>A (p.Arg252Lys)
c.800G>A (p.Arg267Lys)
c.511G>A
c.764G>A (p.Arg255Lys)
c.*3973G>A (n.*3973G>A)
c.484G>A
c.881G>A (p.Arg294Lys)
c.503G>A (p.Arg168Lys)
c.506G>A (p.Arg169Lys)
c.5-18620G>A (n.5-18620G>A)
c.-43-8050G>A (n.-43-8050G>A)
c.-98-32381G>A (n.-98-32381G>A)
n.84G>A
n.4326G>A
n.4367G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082571_43082574delinsCTCTCA2260778092BRCA1c.4187_4190delinsAGAG (p.Gln1396=)
c.4061_4064delinsAGAG (p.Gln1354=)
c.4183-2_4184delinsAGAG
c.4109_4112delinsAGAG (p.Gln1370=)
c.875_878delinsAGAG (p.Gln292=)
c.737_740delinsAGAG (p.Gln246=)
c.3299_3302delinsAGAG (p.Gln1100=)
c.4064_4067delinsAGAG (p.Gln1355=)
c.4046_4049delinsAGAG (p.Gln1349=)
c.754-2_755delinsAGAG
c.797_800delinsAGAG (p.Gln266=)
c.508_511delinsAGAG
c.761_764delinsAGAG (p.Gln254=)
c.*3970_*3973delinsAGAG (n.*3970_*3973delinsAGAG)
c.481_484delinsAGAG
c.878_881delinsAGAG (p.Gln293=)
c.500_503delinsAGAG (p.Gln167=)
c.503_506delinsAGAG (p.Gln168=)
c.5-18623_5-18620delinsAGAG (n.5-18623_5-18620delinsAGAG)
c.-43-8053_-43-8050delinsAGAG (n.-43-8053_-43-8050delinsAGAG)
c.-98-32384_-98-32381delinsAGAG (n.-98-32384_-98-32381delinsAGAG)
n.81_84delinsAGAG
n.4323_4326delinsAGAG
n.4364_4367delinsAGAG
17g.43082572T>ACA10593341BRCA1c.4189A>T (p.Arg1397Trp)
c.4063A>T (p.Arg1355Trp)
c.4183A>T (p.Arg1395Trp)
c.4111A>T (p.Arg1371Trp)
c.877A>T (p.Arg293Trp)
c.739A>T (p.Arg247Trp)
c.3301A>T (p.Arg1101Trp)
c.4066A>T (p.Arg1356Trp)
c.4048A>T (p.Arg1350Trp)
c.754A>T (p.Arg252Trp)
c.799A>T (p.Arg267Trp)
c.510A>T
c.763A>T (p.Arg255Trp)
c.*3972A>T (n.*3972A>T)
c.483A>T
c.880A>T (p.Arg294Trp)
c.502A>T (p.Arg168Trp)
c.505A>T (p.Arg169Trp)
c.5-18621A>T (n.5-18621A>T)
c.-43-8051A>T (n.-43-8051A>T)
c.-98-32382A>T (n.-98-32382A>T)
n.83A>T
n.4325A>T
n.4366A>T
 dbSNP
17g.43082572T>CCA10593342BRCA1c.4189A>G (p.Arg1397Gly)
c.4063A>G (p.Arg1355Gly)
c.4183A>G (p.Arg1395Gly)
c.4111A>G (p.Arg1371Gly)
c.877A>G (p.Arg293Gly)
c.739A>G (p.Arg247Gly)
c.3301A>G (p.Arg1101Gly)
c.4066A>G (p.Arg1356Gly)
c.4048A>G (p.Arg1350Gly)
c.754A>G (p.Arg252Gly)
c.799A>G (p.Arg267Gly)
c.510A>G
c.763A>G (p.Arg255Gly)
c.*3972A>G (n.*3972A>G)
c.483A>G
c.880A>G (p.Arg294Gly)
c.502A>G (p.Arg168Gly)
c.505A>G (p.Arg169Gly)
c.5-18621A>G (n.5-18621A>G)
c.-43-8051A>G (n.-43-8051A>G)
c.-98-32382A>G (n.-98-32382A>G)
n.83A>G
n.4325A>G
n.4366A>G
 ClinVar dbSNP gnomAD v4
17g.43082572T>GCA10575943BRCA1c.4189A>C (p.Arg1397=)
c.4063A>C (p.Arg1355=)
c.4183A>C (p.Arg1395=)
c.4111A>C (p.Arg1371=)
c.877A>C (p.Arg293=)
c.739A>C (p.Arg247=)
c.3301A>C (p.Arg1101=)
c.4066A>C (p.Arg1356=)
c.4048A>C (p.Arg1350=)
c.754A>C (p.Arg252=)
c.799A>C (p.Arg267=)
c.510A>C
c.763A>C (p.Arg255=)
c.*3972A>C (n.*3972A>C)
c.483A>C
c.880A>C (p.Arg294=)
c.502A>C (p.Arg168=)
c.505A>C (p.Arg169=)
c.5-18621A>C (n.5-18621A>C)
c.-43-8051A>C (n.-43-8051A>C)
c.-98-32382A>C (n.-98-32382A>C)
n.83A>C
n.4325A>C
n.4366A>C
 ClinVar dbSNP
17g.43082572T=CA2260778094BRCA1c.4189A= (p.Arg1397=)
c.4063A= (p.Arg1355=)
c.4183A= (p.Arg1395=)
c.4111A= (p.Arg1371=)
c.877A= (p.Arg293=)
c.739A= (p.Arg247=)
c.3301A= (p.Arg1101=)
c.4066A= (p.Arg1356=)
c.4048A= (p.Arg1350=)
c.754A= (p.Arg252=)
c.799A= (p.Arg267=)
c.510A=
c.763A= (p.Arg255=)
c.*3972A= (n.*3972A=)
c.483A=
c.880A= (p.Arg294=)
c.502A= (p.Arg168=)
c.505A= (p.Arg169=)
c.5-18621A= (n.5-18621A=)
c.-43-8051A= (n.-43-8051A=)
c.-98-32382A= (n.-98-32382A=)
n.83A=
n.4325A=
n.4366A=
17g.43082572_43082574delCA002701BRCA1c.4187_4189del (p.Gln1396del)
c.4061_4063del (p.Gln1354del)
c.4183-2_4183del
c.4109_4111del (p.Gln1370del)
c.875_877del (p.Gln292del)
c.737_739del (p.Gln246del)
c.3299_3301del (p.Gln1100del)
c.4064_4066del (p.Gln1355del)
c.4046_4048del (p.Gln1349del)
c.754-2_754del
c.797_799del (p.Gln266del)
c.508_510del
c.761_763del (p.Gln254del)
c.*3970_*3972del (n.*3970_*3972del)
c.481_483del
c.878_880del (p.Gln293del)
c.500_502del (p.Gln167del)
c.503_505del (p.Gln168del)
c.5-18623_5-18621del (n.5-18623_5-18621del)
c.-43-8053_-43-8051del (n.-43-8053_-43-8051del)
c.-98-32384_-98-32382del (n.-98-32384_-98-32382del)
n.81_83del
n.4323_4325del
n.4364_4366del
 ClinVar dbSNP
17g.43082573C>ACA10593343BRCA1c.4188G>T (p.Gln1396His)
c.4062G>T (p.Gln1354His)
c.4183-1G>T (n.4183-1G>T)
c.4110G>T (p.Gln1370His)
c.876G>T (p.Gln292His)
c.738G>T (p.Gln246His)
c.3300G>T (p.Gln1100His)
c.4065G>T (p.Gln1355His)
c.4047G>T (p.Gln1349His)
c.754-1G>T (n.754-1G>T)
c.798G>T (p.Gln266His)
c.509G>T
c.762G>T (p.Gln254His)
c.*3971G>T (n.*3971G>T)
c.482G>T
c.879G>T (p.Gln293His)
c.501G>T (p.Gln167His)
c.504G>T (p.Gln168His)
c.5-18622G>T (n.5-18622G>T)
c.-43-8052G>T (n.-43-8052G>T)
c.-98-32383G>T (n.-98-32383G>T)
n.82G>T
n.4324G>T
n.4365G>T
 dbSNP
17g.43082573C>GCA10593344BRCA1c.4188G>C (p.Gln1396His)
c.4062G>C (p.Gln1354His)
c.4183-1G>C (n.4183-1G>C)
c.4110G>C (p.Gln1370His)
c.876G>C (p.Gln292His)
c.738G>C (p.Gln246His)
c.3300G>C (p.Gln1100His)
c.4065G>C (p.Gln1355His)
c.4047G>C (p.Gln1349His)
c.754-1G>C (n.754-1G>C)
c.798G>C (p.Gln266His)
c.509G>C
c.762G>C (p.Gln254His)
c.*3971G>C (n.*3971G>C)
c.482G>C
c.879G>C (p.Gln293His)
c.501G>C (p.Gln167His)
c.504G>C (p.Gln168His)
c.5-18622G>C (n.5-18622G>C)
c.-43-8052G>C (n.-43-8052G>C)
c.-98-32383G>C (n.-98-32383G>C)
n.82G>C
n.4324G>C
n.4365G>C
 dbSNP COSMIC COSMIC
17g.43082573C>TCA500148435BRCA1c.4188G>A (p.Gln1396=)
c.4062G>A (p.Gln1354=)
c.4183-1G>A (n.4183-1G>A)
c.4110G>A (p.Gln1370=)
c.876G>A (p.Gln292=)
c.738G>A (p.Gln246=)
c.3300G>A (p.Gln1100=)
c.4065G>A (p.Gln1355=)
c.4047G>A (p.Gln1349=)
c.754-1G>A (n.754-1G>A)
c.798G>A (p.Gln266=)
c.509G>A
c.762G>A (p.Gln254=)
c.*3971G>A (n.*3971G>A)
c.482G>A
c.879G>A (p.Gln293=)
c.501G>A (p.Gln167=)
c.504G>A (p.Gln168=)
c.5-18622G>A (n.5-18622G>A)
c.-43-8052G>A (n.-43-8052G>A)
c.-98-32383G>A (n.-98-32383G>A)
n.82G>A
n.4324G>A
n.4365G>A
17g.43082574T>ACA10593345BRCA1c.4187A>T (p.Gln1396Leu)
c.4061A>T (p.Gln1354Leu)
c.4183-2A>T (n.4183-2A>T)
c.4109A>T (p.Gln1370Leu)
c.875A>T (p.Gln292Leu)
c.737A>T (p.Gln246Leu)
c.3299A>T (p.Gln1100Leu)
c.4064A>T (p.Gln1355Leu)
c.4046A>T (p.Gln1349Leu)
c.754-2A>T (n.754-2A>T)
c.797A>T (p.Gln266Leu)
c.508A>T
c.761A>T (p.Gln254Leu)
c.*3970A>T (n.*3970A>T)
c.481A>T
c.878A>T (p.Gln293Leu)
c.500A>T (p.Gln167Leu)
c.503A>T (p.Gln168Leu)
c.5-18623A>T (n.5-18623A>T)
c.-43-8053A>T (n.-43-8053A>T)
c.-98-32384A>T (n.-98-32384A>T)
n.81A>T
n.4323A>T
n.4364A>T
 dbSNP
17g.43082574T>CCA059635BRCA1c.4187A>G (p.Gln1396Arg)
c.4061A>G (p.Gln1354Arg)
c.4183-2A>G (n.4183-2A>G)
c.4109A>G (p.Gln1370Arg)
c.875A>G (p.Gln292Arg)
c.737A>G (p.Gln246Arg)
c.3299A>G (p.Gln1100Arg)
c.4064A>G (p.Gln1355Arg)
c.4046A>G (p.Gln1349Arg)
c.754-2A>G (n.754-2A>G)
c.797A>G (p.Gln266Arg)
c.508A>G
c.761A>G (p.Gln254Arg)
c.*3970A>G (n.*3970A>G)
c.481A>G
c.878A>G (p.Gln293Arg)
c.500A>G (p.Gln167Arg)
c.503A>G (p.Gln168Arg)
c.5-18623A>G (n.5-18623A>G)
c.-43-8053A>G (n.-43-8053A>G)
c.-98-32384A>G (n.-98-32384A>G)
n.81A>G
n.4323A>G
n.4364A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082574T>GCA10593346BRCA1c.4187A>C (p.Gln1396Pro)
c.4061A>C (p.Gln1354Pro)
c.4183-2A>C (n.4183-2A>C)
c.4109A>C (p.Gln1370Pro)
c.875A>C (p.Gln292Pro)
c.737A>C (p.Gln246Pro)
c.3299A>C (p.Gln1100Pro)
c.4064A>C (p.Gln1355Pro)
c.4046A>C (p.Gln1349Pro)
c.754-2A>C (n.754-2A>C)
c.797A>C (p.Gln266Pro)
c.508A>C
c.761A>C (p.Gln254Pro)
c.*3970A>C (n.*3970A>C)
c.481A>C
c.878A>C (p.Gln293Pro)
c.500A>C (p.Gln167Pro)
c.503A>C (p.Gln168Pro)
c.5-18623A>C (n.5-18623A>C)
c.-43-8053A>C (n.-43-8053A>C)
c.-98-32384A>C (n.-98-32384A>C)
n.81A>C
n.4323A>C
n.4364A>C
 dbSNP gnomAD v3 gnomAD v4
17g.43082574T=CA2260778095BRCA1c.4187A= (p.Gln1396=)
c.4061A= (p.Gln1354=)
c.4183-2A= (n.4183-2A=)
c.4109A= (p.Gln1370=)
c.875A= (p.Gln292=)
c.737A= (p.Gln246=)
c.3299A= (p.Gln1100=)
c.4064A= (p.Gln1355=)
c.4046A= (p.Gln1349=)
c.754-2A= (n.754-2A=)
c.797A= (p.Gln266=)
c.508A=
c.761A= (p.Gln254=)
c.*3970A= (n.*3970A=)
c.481A=
c.878A= (p.Gln293=)
c.500A= (p.Gln167=)
c.503A= (p.Gln168=)
c.5-18623A= (n.5-18623A=)
c.-43-8053A= (n.-43-8053A=)
c.-98-32384A= (n.-98-32384A=)
n.81A=
n.4323A=
n.4364A=
17g.43082575G>ACA002700BRCA1c.4186C>T (p.Gln1396Ter)
c.4060C>T (p.Gln1354Ter)
c.4183-3C>T (n.4183-3C>T)
c.4108C>T (p.Gln1370Ter)
c.874C>T (p.Gln292Ter)
c.736C>T (p.Gln246Ter)
c.3298C>T (p.Gln1100Ter)
c.4063C>T (p.Gln1355Ter)
c.4045C>T (p.Gln1349Ter)
c.754-3C>T (n.754-3C>T)
c.796C>T (p.Gln266Ter)
c.507C>T
c.760C>T (p.Gln254Ter)
c.*3969C>T (n.*3969C>T)
c.480C>T
c.877C>T (p.Gln293Ter)
c.499C>T (p.Gln167Ter)
c.502C>T (p.Gln168Ter)
c.5-18624C>T (n.5-18624C>T)
c.-43-8054C>T (n.-43-8054C>T)
c.-98-32385C>T (n.-98-32385C>T)
n.80C>T
n.4322C>T
n.4363C>T
 ClinVar dbSNP
17g.43082575G>CCA10593347BRCA1c.4186C>G (p.Gln1396Glu)
c.4060C>G (p.Gln1354Glu)
c.4183-3C>G (n.4183-3C>G)
c.4108C>G (p.Gln1370Glu)
c.874C>G (p.Gln292Glu)
c.736C>G (p.Gln246Glu)
c.3298C>G (p.Gln1100Glu)
c.4063C>G (p.Gln1355Glu)
c.4045C>G (p.Gln1349Glu)
c.754-3C>G (n.754-3C>G)
c.796C>G (p.Gln266Glu)
c.507C>G
c.760C>G (p.Gln254Glu)
c.*3969C>G (n.*3969C>G)
c.480C>G
c.877C>G (p.Gln293Glu)
c.499C>G (p.Gln167Glu)
c.502C>G (p.Gln168Glu)
c.5-18624C>G (n.5-18624C>G)
c.-43-8054C>G (n.-43-8054C>G)
c.-98-32385C>G (n.-98-32385C>G)
n.80C>G
n.4322C>G
n.4363C>G
 ClinVar dbSNP
17g.43082575G=CA2260778096BRCA1c.4186C= (p.Gln1396=)
c.4060C= (p.Gln1354=)
c.4183-3C= (n.4183-3C=)
c.4108C= (p.Gln1370=)
c.874C= (p.Gln292=)
c.736C= (p.Gln246=)
c.3298C= (p.Gln1100=)
c.4063C= (p.Gln1355=)
c.4045C= (p.Gln1349=)
c.754-3C= (n.754-3C=)
c.796C= (p.Gln266=)
c.507C=
c.760C= (p.Gln254=)
c.*3969C= (n.*3969C=)
c.480C=
c.877C= (p.Gln293=)
c.499C= (p.Gln167=)
c.502C= (p.Gln168=)
c.5-18624C= (n.5-18624C=)
c.-43-8054C= (n.-43-8054C=)
c.-98-32385C= (n.-98-32385C=)
n.80C=
n.4322C=
n.4363C=
17g.43082575G>TCA002699BRCA1c.4186C>A (p.Gln1396Lys)
c.4060C>A (p.Gln1354Lys)
c.4183-3C>A (n.4183-3C>A)
c.4108C>A (p.Gln1370Lys)
c.874C>A (p.Gln292Lys)
c.736C>A (p.Gln246Lys)
c.3298C>A (p.Gln1100Lys)
c.4063C>A (p.Gln1355Lys)
c.4045C>A (p.Gln1349Lys)
c.754-3C>A (n.754-3C>A)
c.796C>A (p.Gln266Lys)
c.507C>A
c.760C>A (p.Gln254Lys)
c.*3969C>A (n.*3969C>A)
c.480C>A
c.877C>A (p.Gln293Lys)
c.499C>A (p.Gln167Lys)
c.502C>A (p.Gln168Lys)
c.5-18624C>A (n.5-18624C>A)
c.-43-8054C>A (n.-43-8054C>A)
c.-98-32385C>A (n.-98-32385C>A)
n.80C>A
n.4322C>A
n.4363C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082576C>ACA10593348BRCA1c.4186-1G>T (n.4186-1G>T)
c.4060-1G>T (n.4060-1G>T)
c.4183-4G>T (n.4183-4G>T)
c.4108-1G>T (n.4108-1G>T)
c.874-1G>T (n.874-1G>T)
c.736-1G>T (n.736-1G>T)
c.3298-1G>T (n.3298-1G>T)
c.4063-1G>T (n.4063-1G>T)
c.4045-1G>T (n.4045-1G>T)
c.754-4G>T (n.754-4G>T)
c.796-1G>T (n.796-1G>T)
c.507-1G>T
c.760-1G>T (n.760-1G>T)
c.*3969-1G>T (n.*3969-1G>T)
c.480-1G>T
c.877-1G>T (n.877-1G>T)
c.499-1G>T (n.499-1G>T)
c.502-1G>T (n.502-1G>T)
c.5-18625G>T (n.5-18625G>T)
c.-43-8055G>T (n.-43-8055G>T)
c.-98-32386G>T (n.-98-32386G>T)
n.80-1G>T
n.4322-1G>T
n.4363-1G>T
 ClinVar dbSNP
17g.43082576C=CA2260778097BRCA1c.4186-1G= (n.4186-1G=)
c.4060-1G= (n.4060-1G=)
c.4183-4G= (n.4183-4G=)
c.4108-1G= (n.4108-1G=)
c.874-1G= (n.874-1G=)
c.736-1G= (n.736-1G=)
c.3298-1G= (n.3298-1G=)
c.4063-1G= (n.4063-1G=)
c.4045-1G= (n.4045-1G=)
c.754-4G= (n.754-4G=)
c.796-1G= (n.796-1G=)
c.507-1G=
c.760-1G= (n.760-1G=)
c.*3969-1G= (n.*3969-1G=)
c.480-1G=
c.877-1G= (n.877-1G=)
c.499-1G= (n.499-1G=)
c.502-1G= (n.502-1G=)
c.5-18625G= (n.5-18625G=)
c.-43-8055G= (n.-43-8055G=)
c.-98-32386G= (n.-98-32386G=)
n.80-1G=
n.4322-1G=
n.4363-1G=
17g.43082576C>GCA10593349BRCA1c.4186-1G>C (n.4186-1G>C)
c.4060-1G>C (n.4060-1G>C)
c.4183-4G>C (n.4183-4G>C)
c.4108-1G>C (n.4108-1G>C)
c.874-1G>C (n.874-1G>C)
c.736-1G>C (n.736-1G>C)
c.3298-1G>C (n.3298-1G>C)
c.4063-1G>C (n.4063-1G>C)
c.4045-1G>C (n.4045-1G>C)
c.754-4G>C (n.754-4G>C)
c.796-1G>C (n.796-1G>C)
c.507-1G>C
c.760-1G>C (n.760-1G>C)
c.*3969-1G>C (n.*3969-1G>C)
c.480-1G>C
c.877-1G>C (n.877-1G>C)
c.499-1G>C (n.499-1G>C)
c.502-1G>C (n.502-1G>C)
c.5-18625G>C (n.5-18625G>C)
c.-43-8055G>C (n.-43-8055G>C)
c.-98-32386G>C (n.-98-32386G>C)
n.80-1G>C
n.4322-1G>C
n.4363-1G>C
 dbSNP
17g.43082576C>TCA002696BRCA1c.4186-1G>A (n.4186-1G>A)
c.4060-1G>A (n.4060-1G>A)
c.4183-4G>A (n.4183-4G>A)
c.4108-1G>A (n.4108-1G>A)
c.874-1G>A (n.874-1G>A)
c.736-1G>A (n.736-1G>A)
c.3298-1G>A (n.3298-1G>A)
c.4063-1G>A (n.4063-1G>A)
c.4045-1G>A (n.4045-1G>A)
c.754-4G>A (n.754-4G>A)
c.796-1G>A (n.796-1G>A)
c.507-1G>A
c.760-1G>A (n.760-1G>A)
c.*3969-1G>A (n.*3969-1G>A)
c.480-1G>A
c.877-1G>A (n.877-1G>A)
c.499-1G>A (n.499-1G>A)
c.502-1G>A (n.502-1G>A)
c.5-18625G>A (n.5-18625G>A)
c.-43-8055G>A (n.-43-8055G>A)
c.-98-32386G>A (n.-98-32386G>A)
n.80-1G>A
n.4322-1G>A
n.4363-1G>A
 ClinVar dbSNP gnomAD v4
17g.43082577T>ACA10593350BRCA1c.4186-2A>T (n.4186-2A>T)
c.4060-2A>T (n.4060-2A>T)
c.4183-5A>T (n.4183-5A>T)
c.4108-2A>T (n.4108-2A>T)
c.874-2A>T (n.874-2A>T)
c.736-2A>T (n.736-2A>T)
c.3298-2A>T (n.3298-2A>T)
c.4063-2A>T (n.4063-2A>T)
c.4045-2A>T (n.4045-2A>T)
c.754-5A>T (n.754-5A>T)
c.796-2A>T (n.796-2A>T)
c.507-2A>T
c.760-2A>T (n.760-2A>T)
c.*3969-2A>T (n.*3969-2A>T)
c.480-2A>T
c.877-2A>T (n.877-2A>T)
c.499-2A>T (n.499-2A>T)
c.502-2A>T (n.502-2A>T)
c.5-18626A>T (n.5-18626A>T)
c.-43-8056A>T (n.-43-8056A>T)
c.-98-32387A>T (n.-98-32387A>T)
n.80-2A>T
n.4322-2A>T
n.4363-2A>T
 dbSNP
17g.43082577T>CCA10583563BRCA1c.4186-2A>G (n.4186-2A>G)
c.4060-2A>G (n.4060-2A>G)
c.4183-5A>G (n.4183-5A>G)
c.4108-2A>G (n.4108-2A>G)
c.874-2A>G (n.874-2A>G)
c.736-2A>G (n.736-2A>G)
c.3298-2A>G (n.3298-2A>G)
c.4063-2A>G (n.4063-2A>G)
c.4045-2A>G (n.4045-2A>G)
c.754-5A>G (n.754-5A>G)
c.796-2A>G (n.796-2A>G)
c.507-2A>G
c.760-2A>G (n.760-2A>G)
c.*3969-2A>G (n.*3969-2A>G)
c.480-2A>G
c.877-2A>G (n.877-2A>G)
c.499-2A>G (n.499-2A>G)
c.502-2A>G (n.502-2A>G)
c.5-18626A>G (n.5-18626A>G)
c.-43-8056A>G (n.-43-8056A>G)
c.-98-32387A>G (n.-98-32387A>G)
n.80-2A>G
n.4322-2A>G
n.4363-2A>G
 ClinVar dbSNP
17g.43082577T>GCA10593351BRCA1c.4186-2A>C (n.4186-2A>C)
c.4060-2A>C (n.4060-2A>C)
c.4183-5A>C (n.4183-5A>C)
c.4108-2A>C (n.4108-2A>C)
c.874-2A>C (n.874-2A>C)
c.736-2A>C (n.736-2A>C)
c.3298-2A>C (n.3298-2A>C)
c.4063-2A>C (n.4063-2A>C)
c.4045-2A>C (n.4045-2A>C)
c.754-5A>C (n.754-5A>C)
c.796-2A>C (n.796-2A>C)
c.507-2A>C
c.760-2A>C (n.760-2A>C)
c.*3969-2A>C (n.*3969-2A>C)
c.480-2A>C
c.877-2A>C (n.877-2A>C)
c.499-2A>C (n.499-2A>C)
c.502-2A>C (n.502-2A>C)
c.5-18626A>C (n.5-18626A>C)
c.-43-8056A>C (n.-43-8056A>C)
c.-98-32387A>C (n.-98-32387A>C)
n.80-2A>C
n.4322-2A>C
n.4363-2A>C
17g.43082577T=CA2260778098BRCA1c.4186-2A= (n.4186-2A=)
c.4060-2A= (n.4060-2A=)
c.4183-5A= (n.4183-5A=)
c.4108-2A= (n.4108-2A=)
c.874-2A= (n.874-2A=)
c.736-2A= (n.736-2A=)
c.3298-2A= (n.3298-2A=)
c.4063-2A= (n.4063-2A=)
c.4045-2A= (n.4045-2A=)
c.754-5A= (n.754-5A=)
c.796-2A= (n.796-2A=)
c.507-2A=
c.760-2A= (n.760-2A=)
c.*3969-2A= (n.*3969-2A=)
c.480-2A=
c.877-2A= (n.877-2A=)
c.499-2A= (n.499-2A=)
c.502-2A= (n.502-2A=)
c.5-18626A= (n.5-18626A=)
c.-43-8056A= (n.-43-8056A=)
c.-98-32387A= (n.-98-32387A=)
n.80-2A=
n.4322-2A=
n.4363-2A=
17g.43082578T>ACA2733643958BRCA1c.4186-3A>T (n.4186-3A>T)
c.4060-3A>T (n.4060-3A>T)
c.4183-6A>T (n.4183-6A>T)
c.4108-3A>T (n.4108-3A>T)
c.874-3A>T (n.874-3A>T)
c.736-3A>T (n.736-3A>T)
c.3298-3A>T (n.3298-3A>T)
c.4063-3A>T (n.4063-3A>T)
c.4045-3A>T (n.4045-3A>T)
c.754-6A>T (n.754-6A>T)
c.796-3A>T (n.796-3A>T)
c.507-3A>T
c.760-3A>T (n.760-3A>T)
c.*3969-3A>T (n.*3969-3A>T)
c.480-3A>T
c.877-3A>T (n.877-3A>T)
c.499-3A>T (n.499-3A>T)
c.502-3A>T (n.502-3A>T)
c.5-18627A>T (n.5-18627A>T)
c.-43-8057A>T (n.-43-8057A>T)
c.-98-32388A>T (n.-98-32388A>T)
n.80-3A>T
n.4322-3A>T
n.4363-3A>T
 dbSNP
17g.43082578T>CCA002697BRCA1c.4186-3A>G (n.4186-3A>G)
c.4060-3A>G (n.4060-3A>G)
c.4183-6A>G (n.4183-6A>G)
c.4108-3A>G (n.4108-3A>G)
c.874-3A>G (n.874-3A>G)
c.736-3A>G (n.736-3A>G)
c.3298-3A>G (n.3298-3A>G)
c.4063-3A>G (n.4063-3A>G)
c.4045-3A>G (n.4045-3A>G)
c.754-6A>G (n.754-6A>G)
c.796-3A>G (n.796-3A>G)
c.507-3A>G
c.760-3A>G (n.760-3A>G)
c.*3969-3A>G (n.*3969-3A>G)
c.480-3A>G
c.877-3A>G (n.877-3A>G)
c.499-3A>G (n.499-3A>G)
c.502-3A>G (n.502-3A>G)
c.5-18627A>G (n.5-18627A>G)
c.-43-8057A>G (n.-43-8057A>G)
c.-98-32388A>G (n.-98-32388A>G)
n.80-3A>G
n.4322-3A>G
n.4363-3A>G
 ClinVar dbSNP
17g.43082578T=CA2260778099BRCA1c.4186-3A= (n.4186-3A=)
c.4060-3A= (n.4060-3A=)
c.4183-6A= (n.4183-6A=)
c.4108-3A= (n.4108-3A=)
c.874-3A= (n.874-3A=)
c.736-3A= (n.736-3A=)
c.3298-3A= (n.3298-3A=)
c.4063-3A= (n.4063-3A=)
c.4045-3A= (n.4045-3A=)
c.754-6A= (n.754-6A=)
c.796-3A= (n.796-3A=)
c.507-3A=
c.760-3A= (n.760-3A=)
c.*3969-3A= (n.*3969-3A=)
c.480-3A=
c.877-3A= (n.877-3A=)
c.499-3A= (n.499-3A=)
c.502-3A= (n.502-3A=)
c.5-18627A= (n.5-18627A=)
c.-43-8057A= (n.-43-8057A=)
c.-98-32388A= (n.-98-32388A=)
n.80-3A=
n.4322-3A=
n.4363-3A=
17g.43082580A>GCA2733908946BRCA1c.4186-5T>C (n.4186-5T>C)
c.4060-5T>C (n.4060-5T>C)
c.4183-8T>C (n.4183-8T>C)
c.4108-5T>C (n.4108-5T>C)
c.874-5T>C (n.874-5T>C)
c.736-5T>C (n.736-5T>C)
c.3298-5T>C (n.3298-5T>C)
c.4063-5T>C (n.4063-5T>C)
c.4045-5T>C (n.4045-5T>C)
c.754-8T>C (n.754-8T>C)
c.796-5T>C (n.796-5T>C)
c.507-5T>C
c.760-5T>C (n.760-5T>C)
c.*3969-5T>C (n.*3969-5T>C)
c.480-5T>C
c.877-5T>C (n.877-5T>C)
c.499-5T>C (n.499-5T>C)
c.502-5T>C (n.502-5T>C)
c.5-18629T>C (n.5-18629T>C)
c.-43-8059T>C (n.-43-8059T>C)
c.-98-32390T>C (n.-98-32390T>C)
n.80-5T>C
n.4322-5T>C
n.4363-5T>C
 dbSNP
17g.43082584dupCA2580093822BRCA1c.4186-5dup (n.4186-5dup)
c.4060-5dup (n.4060-5dup)
c.4183-8dup (n.4183-8dup)
c.4108-5dup (n.4108-5dup)
c.874-5dup (n.874-5dup)
c.736-5dup (n.736-5dup)
c.3298-5dup (n.3298-5dup)
c.4063-5dup (n.4063-5dup)
c.4045-5dup (n.4045-5dup)
c.754-8dup (n.754-8dup)
c.796-5dup (n.796-5dup)
c.507-5dup
c.760-5dup (n.760-5dup)
c.*3969-5dup (n.*3969-5dup)
c.480-5dup
c.877-5dup (n.877-5dup)
c.499-5dup (n.499-5dup)
c.502-5dup (n.502-5dup)
c.5-18629dup (n.5-18629dup)
c.-43-8059dup (n.-43-8059dup)
c.-98-32390dup (n.-98-32390dup)
n.80-5dup
n.4322-5dup
n.4363-5dup
 ClinVar dbSNP
17g.43082581A=CA2260778100BRCA1c.4186-6T= (n.4186-6T=)
c.4060-6T= (n.4060-6T=)
c.4183-9T= (n.4183-9T=)
c.4108-6T= (n.4108-6T=)
c.874-6T= (n.874-6T=)
c.736-6T= (n.736-6T=)
c.3298-6T= (n.3298-6T=)
c.4063-6T= (n.4063-6T=)
c.4045-6T= (n.4045-6T=)
c.754-9T= (n.754-9T=)
c.796-6T= (n.796-6T=)
c.507-6T=
c.760-6T= (n.760-6T=)
c.*3969-6T= (n.*3969-6T=)
c.480-6T=
c.877-6T= (n.877-6T=)
c.499-6T= (n.499-6T=)
c.502-6T= (n.502-6T=)
c.5-18630T= (n.5-18630T=)
c.-43-8060T= (n.-43-8060T=)
c.-98-32391T= (n.-98-32391T=)
n.80-6T=
n.4322-6T=
n.4363-6T=
17g.43082581A>GCA2260778101BRCA1c.4186-6T>C (n.4186-6T>C)
c.4060-6T>C (n.4060-6T>C)
c.4183-9T>C (n.4183-9T>C)
c.4108-6T>C (n.4108-6T>C)
c.874-6T>C (n.874-6T>C)
c.736-6T>C (n.736-6T>C)
c.3298-6T>C (n.3298-6T>C)
c.4063-6T>C (n.4063-6T>C)
c.4045-6T>C (n.4045-6T>C)
c.754-9T>C (n.754-9T>C)
c.796-6T>C (n.796-6T>C)
c.507-6T>C
c.760-6T>C (n.760-6T>C)
c.*3969-6T>C (n.*3969-6T>C)
c.480-6T>C
c.877-6T>C (n.877-6T>C)
c.499-6T>C (n.499-6T>C)
c.502-6T>C (n.502-6T>C)
c.5-18630T>C (n.5-18630T>C)
c.-43-8060T>C (n.-43-8060T>C)
c.-98-32391T>C (n.-98-32391T>C)
n.80-6T>C
n.4322-6T>C
n.4363-6T>C
 ClinVar dbSNP gnomAD v4
17g.43082582A>GCA2733908951BRCA1c.4186-7T>C (n.4186-7T>C)
c.4060-7T>C (n.4060-7T>C)
c.4183-10T>C (n.4183-10T>C)
c.4108-7T>C (n.4108-7T>C)
c.874-7T>C (n.874-7T>C)
c.736-7T>C (n.736-7T>C)
c.3298-7T>C (n.3298-7T>C)
c.4063-7T>C (n.4063-7T>C)
c.4045-7T>C (n.4045-7T>C)
c.754-10T>C (n.754-10T>C)
c.796-7T>C (n.796-7T>C)
c.507-7T>C
c.760-7T>C (n.760-7T>C)
c.*3969-7T>C (n.*3969-7T>C)
c.480-7T>C
c.877-7T>C (n.877-7T>C)
c.499-7T>C (n.499-7T>C)
c.502-7T>C (n.502-7T>C)
c.5-18631T>C (n.5-18631T>C)
c.-43-8061T>C (n.-43-8061T>C)
c.-98-32392T>C (n.-98-32392T>C)
n.80-7T>C
n.4322-7T>C
n.4363-7T>C
 dbSNP
17g.43082583A>GCA2733908952BRCA1c.4186-8T>C (n.4186-8T>C)
c.4060-8T>C (n.4060-8T>C)
c.4183-11T>C (n.4183-11T>C)
c.4108-8T>C (n.4108-8T>C)
c.874-8T>C (n.874-8T>C)
c.736-8T>C (n.736-8T>C)
c.3298-8T>C (n.3298-8T>C)
c.4063-8T>C (n.4063-8T>C)
c.4045-8T>C (n.4045-8T>C)
c.754-11T>C (n.754-11T>C)
c.796-8T>C (n.796-8T>C)
c.507-8T>C
c.760-8T>C (n.760-8T>C)
c.*3969-8T>C (n.*3969-8T>C)
c.480-8T>C
c.877-8T>C (n.877-8T>C)
c.499-8T>C (n.499-8T>C)
c.502-8T>C (n.502-8T>C)
c.5-18632T>C (n.5-18632T>C)
c.-43-8062T>C (n.-43-8062T>C)
c.-98-32393T>C (n.-98-32393T>C)
n.80-8T>C
n.4322-8T>C
n.4363-8T>C
 dbSNP
17g.43082583A>TCA2733908961BRCA1c.4186-8T>A (n.4186-8T>A)
c.4060-8T>A (n.4060-8T>A)
c.4183-11T>A (n.4183-11T>A)
c.4108-8T>A (n.4108-8T>A)
c.874-8T>A (n.874-8T>A)
c.736-8T>A (n.736-8T>A)
c.3298-8T>A (n.3298-8T>A)
c.4063-8T>A (n.4063-8T>A)
c.4045-8T>A (n.4045-8T>A)
c.754-11T>A (n.754-11T>A)
c.796-8T>A (n.796-8T>A)
c.507-8T>A
c.760-8T>A (n.760-8T>A)
c.*3969-8T>A (n.*3969-8T>A)
c.480-8T>A
c.877-8T>A (n.877-8T>A)
c.499-8T>A (n.499-8T>A)
c.502-8T>A (n.502-8T>A)
c.5-18632T>A (n.5-18632T>A)
c.-43-8062T>A (n.-43-8062T>A)
c.-98-32393T>A (n.-98-32393T>A)
n.80-8T>A
n.4322-8T>A
n.4363-8T>A
 dbSNP
17g.43082584A>CCA2733909018BRCA1c.4186-9T>G (n.4186-9T>G)
c.4060-9T>G (n.4060-9T>G)
c.4183-12T>G (n.4183-12T>G)
c.4108-9T>G (n.4108-9T>G)
c.874-9T>G (n.874-9T>G)
c.736-9T>G (n.736-9T>G)
c.3298-9T>G (n.3298-9T>G)
c.4063-9T>G (n.4063-9T>G)
c.4045-9T>G (n.4045-9T>G)
c.754-12T>G (n.754-12T>G)
c.796-9T>G (n.796-9T>G)
c.507-9T>G
c.760-9T>G (n.760-9T>G)
c.*3969-9T>G (n.*3969-9T>G)
c.480-9T>G
c.877-9T>G (n.877-9T>G)
c.499-9T>G (n.499-9T>G)
c.502-9T>G (n.502-9T>G)
c.5-18633T>G (n.5-18633T>G)
c.-43-8063T>G (n.-43-8063T>G)
c.-98-32394T>G (n.-98-32394T>G)
n.80-9T>G
n.4322-9T>G
n.4363-9T>G
 dbSNP
17g.43082584A>GCA2733908962BRCA1c.4186-9T>C (n.4186-9T>C)
c.4060-9T>C (n.4060-9T>C)
c.4183-12T>C (n.4183-12T>C)
c.4108-9T>C (n.4108-9T>C)
c.874-9T>C (n.874-9T>C)
c.736-9T>C (n.736-9T>C)
c.3298-9T>C (n.3298-9T>C)
c.4063-9T>C (n.4063-9T>C)
c.4045-9T>C (n.4045-9T>C)
c.754-12T>C (n.754-12T>C)
c.796-9T>C (n.796-9T>C)
c.507-9T>C
c.760-9T>C (n.760-9T>C)
c.*3969-9T>C (n.*3969-9T>C)
c.480-9T>C
c.877-9T>C (n.877-9T>C)
c.499-9T>C (n.499-9T>C)
c.502-9T>C (n.502-9T>C)
c.5-18633T>C (n.5-18633T>C)
c.-43-8063T>C (n.-43-8063T>C)
c.-98-32394T>C (n.-98-32394T>C)
n.80-9T>C
n.4322-9T>C
n.4363-9T>C
 dbSNP
17g.43082584A>TCA2733908964BRCA1c.4186-9T>A (n.4186-9T>A)
c.4060-9T>A (n.4060-9T>A)
c.4183-12T>A (n.4183-12T>A)
c.4108-9T>A (n.4108-9T>A)
c.874-9T>A (n.874-9T>A)
c.736-9T>A (n.736-9T>A)
c.3298-9T>A (n.3298-9T>A)
c.4063-9T>A (n.4063-9T>A)
c.4045-9T>A (n.4045-9T>A)
c.754-12T>A (n.754-12T>A)
c.796-9T>A (n.796-9T>A)
c.507-9T>A
c.760-9T>A (n.760-9T>A)
c.*3969-9T>A (n.*3969-9T>A)
c.480-9T>A
c.877-9T>A (n.877-9T>A)
c.499-9T>A (n.499-9T>A)
c.502-9T>A (n.502-9T>A)
c.5-18633T>A (n.5-18633T>A)
c.-43-8063T>A (n.-43-8063T>A)
c.-98-32394T>A (n.-98-32394T>A)
n.80-9T>A
n.4322-9T>A
n.4363-9T>A
 dbSNP
17g.43082585C>ACA2733641850BRCA1c.4186-10G>T (n.4186-10G>T)
c.4060-10G>T (n.4060-10G>T)
c.4183-13G>T (n.4183-13G>T)
c.4108-10G>T (n.4108-10G>T)
c.874-10G>T (n.874-10G>T)
c.736-10G>T (n.736-10G>T)
c.3298-10G>T (n.3298-10G>T)
c.4063-10G>T (n.4063-10G>T)
c.4045-10G>T (n.4045-10G>T)
c.754-13G>T (n.754-13G>T)
c.796-10G>T (n.796-10G>T)
c.507-10G>T
c.760-10G>T (n.760-10G>T)
c.*3969-10G>T (n.*3969-10G>T)
c.480-10G>T
c.877-10G>T (n.877-10G>T)
c.499-10G>T (n.499-10G>T)
c.502-10G>T (n.502-10G>T)
c.5-18634G>T (n.5-18634G>T)
c.-43-8064G>T (n.-43-8064G>T)
c.-98-32395G>T (n.-98-32395G>T)
n.80-10G>T
n.4322-10G>T
n.4363-10G>T
 dbSNP
17g.43082585C=CA2260778102BRCA1c.4186-10G= (n.4186-10G=)
c.4060-10G= (n.4060-10G=)
c.4183-13G= (n.4183-13G=)
c.4108-10G= (n.4108-10G=)
c.874-10G= (n.874-10G=)
c.736-10G= (n.736-10G=)
c.3298-10G= (n.3298-10G=)
c.4063-10G= (n.4063-10G=)
c.4045-10G= (n.4045-10G=)
c.754-13G= (n.754-13G=)
c.796-10G= (n.796-10G=)
c.507-10G=
c.760-10G= (n.760-10G=)
c.*3969-10G= (n.*3969-10G=)
c.480-10G=
c.877-10G= (n.877-10G=)
c.499-10G= (n.499-10G=)
c.502-10G= (n.502-10G=)
c.5-18634G= (n.5-18634G=)
c.-43-8064G= (n.-43-8064G=)
c.-98-32395G= (n.-98-32395G=)
n.80-10G=
n.4322-10G=
n.4363-10G=
17g.43082585C>GCA2733641848BRCA1c.4186-10G>C (n.4186-10G>C)
c.4060-10G>C (n.4060-10G>C)
c.4183-13G>C (n.4183-13G>C)
c.4108-10G>C (n.4108-10G>C)
c.874-10G>C (n.874-10G>C)
c.736-10G>C (n.736-10G>C)
c.3298-10G>C (n.3298-10G>C)
c.4063-10G>C (n.4063-10G>C)
c.4045-10G>C (n.4045-10G>C)
c.754-13G>C (n.754-13G>C)
c.796-10G>C (n.796-10G>C)
c.507-10G>C
c.760-10G>C (n.760-10G>C)
c.*3969-10G>C (n.*3969-10G>C)
c.480-10G>C
c.877-10G>C (n.877-10G>C)
c.499-10G>C (n.499-10G>C)
c.502-10G>C (n.502-10G>C)
c.5-18634G>C (n.5-18634G>C)
c.-43-8064G>C (n.-43-8064G>C)
c.-98-32395G>C (n.-98-32395G>C)
n.80-10G>C
n.4322-10G>C
n.4363-10G>C
 dbSNP
17g.43082585C>TCA002693BRCA1c.4186-10G>A (n.4186-10G>A)
c.4060-10G>A (n.4060-10G>A)
c.4183-13G>A (n.4183-13G>A)
c.4108-10G>A (n.4108-10G>A)
c.874-10G>A (n.874-10G>A)
c.736-10G>A (n.736-10G>A)
c.3298-10G>A (n.3298-10G>A)
c.4063-10G>A (n.4063-10G>A)
c.4045-10G>A (n.4045-10G>A)
c.754-13G>A (n.754-13G>A)
c.796-10G>A (n.796-10G>A)
c.507-10G>A
c.760-10G>A (n.760-10G>A)
c.*3969-10G>A (n.*3969-10G>A)
c.480-10G>A
c.877-10G>A (n.877-10G>A)
c.499-10G>A (n.499-10G>A)
c.502-10G>A (n.502-10G>A)
c.5-18634G>A (n.5-18634G>A)
c.-43-8064G>A (n.-43-8064G>A)
c.-98-32395G>A (n.-98-32395G>A)
n.80-10G>A
n.4322-10G>A
n.4363-10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082586G>ACA002694BRCA1c.4186-11C>T (n.4186-11C>T)
c.4060-11C>T (n.4060-11C>T)
c.4183-14C>T (n.4183-14C>T)
c.4108-11C>T (n.4108-11C>T)
c.874-11C>T (n.874-11C>T)
c.736-11C>T (n.736-11C>T)
c.3298-11C>T (n.3298-11C>T)
c.4063-11C>T (n.4063-11C>T)
c.4045-11C>T (n.4045-11C>T)
c.754-14C>T (n.754-14C>T)
c.796-11C>T (n.796-11C>T)
c.507-11C>T
c.760-11C>T (n.760-11C>T)
c.*3969-11C>T (n.*3969-11C>T)
c.480-11C>T
c.877-11C>T (n.877-11C>T)
c.499-11C>T (n.499-11C>T)
c.502-11C>T (n.502-11C>T)
c.5-18635C>T (n.5-18635C>T)
c.-43-8065C>T (n.-43-8065C>T)
c.-98-32396C>T (n.-98-32396C>T)
n.80-11C>T
n.4322-11C>T
n.4363-11C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082586G>CCA2733641851BRCA1c.4186-11C>G (n.4186-11C>G)
c.4060-11C>G (n.4060-11C>G)
c.4183-14C>G (n.4183-14C>G)
c.4108-11C>G (n.4108-11C>G)
c.874-11C>G (n.874-11C>G)
c.736-11C>G (n.736-11C>G)
c.3298-11C>G (n.3298-11C>G)
c.4063-11C>G (n.4063-11C>G)
c.4045-11C>G (n.4045-11C>G)
c.754-14C>G (n.754-14C>G)
c.796-11C>G (n.796-11C>G)
c.507-11C>G
c.760-11C>G (n.760-11C>G)
c.*3969-11C>G (n.*3969-11C>G)
c.480-11C>G
c.877-11C>G (n.877-11C>G)
c.499-11C>G (n.499-11C>G)
c.502-11C>G (n.502-11C>G)
c.5-18635C>G (n.5-18635C>G)
c.-43-8065C>G (n.-43-8065C>G)
c.-98-32396C>G (n.-98-32396C>G)
n.80-11C>G
n.4322-11C>G
n.4363-11C>G
 dbSNP
17g.43082586G=CA2260778103BRCA1c.4186-11C= (n.4186-11C=)
c.4060-11C= (n.4060-11C=)
c.4183-14C= (n.4183-14C=)
c.4108-11C= (n.4108-11C=)
c.874-11C= (n.874-11C=)
c.736-11C= (n.736-11C=)
c.3298-11C= (n.3298-11C=)
c.4063-11C= (n.4063-11C=)
c.4045-11C= (n.4045-11C=)
c.754-14C= (n.754-14C=)
c.796-11C= (n.796-11C=)
c.507-11C=
c.760-11C= (n.760-11C=)
c.*3969-11C= (n.*3969-11C=)
c.480-11C=
c.877-11C= (n.877-11C=)
c.499-11C= (n.499-11C=)
c.502-11C= (n.502-11C=)
c.5-18635C= (n.5-18635C=)
c.-43-8065C= (n.-43-8065C=)
c.-98-32396C= (n.-98-32396C=)
n.80-11C=
n.4322-11C=
n.4363-11C=
17g.43082586G>TCA2580093823BRCA1c.4186-11C>A (n.4186-11C>A)
c.4060-11C>A (n.4060-11C>A)
c.4183-14C>A (n.4183-14C>A)
c.4108-11C>A (n.4108-11C>A)
c.874-11C>A (n.874-11C>A)
c.736-11C>A (n.736-11C>A)
c.3298-11C>A (n.3298-11C>A)
c.4063-11C>A (n.4063-11C>A)
c.4045-11C>A (n.4045-11C>A)
c.754-14C>A (n.754-14C>A)
c.796-11C>A (n.796-11C>A)
c.507-11C>A
c.760-11C>A (n.760-11C>A)
c.*3969-11C>A (n.*3969-11C>A)
c.480-11C>A
c.877-11C>A (n.877-11C>A)
c.499-11C>A (n.499-11C>A)
c.502-11C>A (n.502-11C>A)
c.5-18635C>A (n.5-18635C>A)
c.-43-8065C>A (n.-43-8065C>A)
c.-98-32396C>A (n.-98-32396C>A)
n.80-11C>A
n.4322-11C>A
n.4363-11C>A
 ClinVar
17g.43082587A>GCA2499224430BRCA1c.4186-12T>C (n.4186-12T>C)
c.4060-12T>C (n.4060-12T>C)
c.4183-15T>C (n.4183-15T>C)
c.4108-12T>C (n.4108-12T>C)
c.874-12T>C (n.874-12T>C)
c.736-12T>C (n.736-12T>C)
c.3298-12T>C (n.3298-12T>C)
c.4063-12T>C (n.4063-12T>C)
c.4045-12T>C (n.4045-12T>C)
c.754-15T>C (n.754-15T>C)
c.796-12T>C (n.796-12T>C)
c.507-12T>C
c.760-12T>C (n.760-12T>C)
c.*3969-12T>C (n.*3969-12T>C)
c.480-12T>C
c.877-12T>C (n.877-12T>C)
c.499-12T>C (n.499-12T>C)
c.502-12T>C (n.502-12T>C)
c.5-18636T>C (n.5-18636T>C)
c.-43-8066T>C (n.-43-8066T>C)
c.-98-32397T>C (n.-98-32397T>C)
n.80-12T>C
n.4322-12T>C
n.4363-12T>C
 ClinVar dbSNP
17g.43082588T>CCA2580093825BRCA1c.4186-13A>G (n.4186-13A>G)
c.4060-13A>G (n.4060-13A>G)
c.4183-16A>G (n.4183-16A>G)
c.4108-13A>G (n.4108-13A>G)
c.874-13A>G (n.874-13A>G)
c.736-13A>G (n.736-13A>G)
c.3298-13A>G (n.3298-13A>G)
c.4063-13A>G (n.4063-13A>G)
c.4045-13A>G (n.4045-13A>G)
c.754-16A>G (n.754-16A>G)
c.796-13A>G (n.796-13A>G)
c.507-13A>G
c.760-13A>G (n.760-13A>G)
c.*3969-13A>G (n.*3969-13A>G)
c.480-13A>G
c.877-13A>G (n.877-13A>G)
c.499-13A>G (n.499-13A>G)
c.502-13A>G (n.502-13A>G)
c.5-18637A>G (n.5-18637A>G)
c.-43-8067A>G (n.-43-8067A>G)
c.-98-32398A>G (n.-98-32398A>G)
n.80-13A>G
n.4322-13A>G
n.4363-13A>G
 ClinVar
17g.43082591delCA2739265601BRCA1c.4186-14del (n.4186-14del)
c.4060-14del (n.4060-14del)
c.4183-17del (n.4183-17del)
c.4108-14del (n.4108-14del)
c.874-14del (n.874-14del)
c.736-14del (n.736-14del)
c.3298-14del (n.3298-14del)
c.4063-14del (n.4063-14del)
c.4045-14del (n.4045-14del)
c.754-17del (n.754-17del)
c.796-14del (n.796-14del)
c.507-14del
c.760-14del (n.760-14del)
c.*3969-14del (n.*3969-14del)
c.480-14del
c.877-14del (n.877-14del)
c.499-14del (n.499-14del)
c.502-14del (n.502-14del)
c.5-18638del (n.5-18638del)
c.-43-8068del (n.-43-8068del)
c.-98-32399del (n.-98-32399del)
n.80-14del
n.4322-14del
n.4363-14del
 ClinVar
17g.43082590A>CCA2573154031BRCA1c.4186-15T>G (n.4186-15T>G)
c.4060-15T>G (n.4060-15T>G)
c.4183-18T>G (n.4183-18T>G)
c.4108-15T>G (n.4108-15T>G)
c.874-15T>G (n.874-15T>G)
c.736-15T>G (n.736-15T>G)
c.3298-15T>G (n.3298-15T>G)
c.4063-15T>G (n.4063-15T>G)
c.4045-15T>G (n.4045-15T>G)
c.754-18T>G (n.754-18T>G)
c.796-15T>G (n.796-15T>G)
c.507-15T>G
c.760-15T>G (n.760-15T>G)
c.*3969-15T>G (n.*3969-15T>G)
c.480-15T>G
c.877-15T>G (n.877-15T>G)
c.499-15T>G (n.499-15T>G)
c.502-15T>G (n.502-15T>G)
c.5-18639T>G (n.5-18639T>G)
c.-43-8069T>G (n.-43-8069T>G)
c.-98-32400T>G (n.-98-32400T>G)
n.80-15T>G
n.4322-15T>G
n.4363-15T>G
 ClinVar dbSNP
17g.43082590A>TCA2733909057BRCA1c.4186-15T>A (n.4186-15T>A)
c.4060-15T>A (n.4060-15T>A)
c.4183-18T>A (n.4183-18T>A)
c.4108-15T>A (n.4108-15T>A)
c.874-15T>A (n.874-15T>A)
c.736-15T>A (n.736-15T>A)
c.3298-15T>A (n.3298-15T>A)
c.4063-15T>A (n.4063-15T>A)
c.4045-15T>A (n.4045-15T>A)
c.754-18T>A (n.754-18T>A)
c.796-15T>A (n.796-15T>A)
c.507-15T>A
c.760-15T>A (n.760-15T>A)
c.*3969-15T>A (n.*3969-15T>A)
c.480-15T>A
c.877-15T>A (n.877-15T>A)
c.499-15T>A (n.499-15T>A)
c.502-15T>A (n.502-15T>A)
c.5-18639T>A (n.5-18639T>A)
c.-43-8069T>A (n.-43-8069T>A)
c.-98-32400T>A (n.-98-32400T>A)
n.80-15T>A
n.4322-15T>A
n.4363-15T>A
 dbSNP
17g.43082591A>GCA2499224431BRCA1c.4186-16T>C (n.4186-16T>C)
c.4060-16T>C (n.4060-16T>C)
c.4183-19T>C (n.4183-19T>C)
c.4108-16T>C (n.4108-16T>C)
c.874-16T>C (n.874-16T>C)
c.736-16T>C (n.736-16T>C)
c.3298-16T>C (n.3298-16T>C)
c.4063-16T>C (n.4063-16T>C)
c.4045-16T>C (n.4045-16T>C)
c.754-19T>C (n.754-19T>C)
c.796-16T>C (n.796-16T>C)
c.507-16T>C
c.760-16T>C (n.760-16T>C)
c.*3969-16T>C (n.*3969-16T>C)
c.480-16T>C
c.877-16T>C (n.877-16T>C)
c.499-16T>C (n.499-16T>C)
c.502-16T>C (n.502-16T>C)
c.5-18640T>C (n.5-18640T>C)
c.-43-8070T>C (n.-43-8070T>C)
c.-98-32401T>C (n.-98-32401T>C)
n.80-16T>C
n.4322-16T>C
n.4363-16T>C
 ClinVar dbSNP
17g.43082592T>ACA2733909074BRCA1c.4186-17A>T (n.4186-17A>T)
c.4060-17A>T (n.4060-17A>T)
c.4183-20A>T (n.4183-20A>T)
c.4108-17A>T (n.4108-17A>T)
c.874-17A>T (n.874-17A>T)
c.736-17A>T (n.736-17A>T)
c.3298-17A>T (n.3298-17A>T)
c.4063-17A>T (n.4063-17A>T)
c.4045-17A>T (n.4045-17A>T)
c.754-20A>T (n.754-20A>T)
c.796-17A>T (n.796-17A>T)
c.507-17A>T
c.760-17A>T (n.760-17A>T)
c.*3969-17A>T (n.*3969-17A>T)
c.480-17A>T
c.877-17A>T (n.877-17A>T)
c.499-17A>T (n.499-17A>T)
c.502-17A>T (n.502-17A>T)
c.5-18641A>T (n.5-18641A>T)
c.-43-8071A>T (n.-43-8071A>T)
c.-98-32402A>T (n.-98-32402A>T)
n.80-17A>T
n.4322-17A>T
n.4363-17A>T
 dbSNP
17g.43082593G>ACA10586109BRCA1c.4186-18C>T (n.4186-18C>T)
c.4060-18C>T (n.4060-18C>T)
c.4183-21C>T (n.4183-21C>T)
c.4108-18C>T (n.4108-18C>T)
c.874-18C>T (n.874-18C>T)
c.736-18C>T (n.736-18C>T)
c.3298-18C>T (n.3298-18C>T)
c.4063-18C>T (n.4063-18C>T)
c.4045-18C>T (n.4045-18C>T)
c.754-21C>T (n.754-21C>T)
c.796-18C>T (n.796-18C>T)
c.507-18C>T
c.760-18C>T (n.760-18C>T)
c.*3969-18C>T (n.*3969-18C>T)
c.480-18C>T
c.877-18C>T (n.877-18C>T)
c.499-18C>T (n.499-18C>T)
c.502-18C>T (n.502-18C>T)
c.5-18642C>T (n.5-18642C>T)
c.-43-8072C>T (n.-43-8072C>T)
c.-98-32403C>T (n.-98-32403C>T)
n.80-18C>T
n.4322-18C>T
n.4363-18C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082593G>CCA2733648405BRCA1c.4186-18C>G (n.4186-18C>G)
c.4060-18C>G (n.4060-18C>G)
c.4183-21C>G (n.4183-21C>G)
c.4108-18C>G (n.4108-18C>G)
c.874-18C>G (n.874-18C>G)
c.736-18C>G (n.736-18C>G)
c.3298-18C>G (n.3298-18C>G)
c.4063-18C>G (n.4063-18C>G)
c.4045-18C>G (n.4045-18C>G)
c.754-21C>G (n.754-21C>G)
c.796-18C>G (n.796-18C>G)
c.507-18C>G
c.760-18C>G (n.760-18C>G)
c.*3969-18C>G (n.*3969-18C>G)
c.480-18C>G
c.877-18C>G (n.877-18C>G)
c.499-18C>G (n.499-18C>G)
c.502-18C>G (n.502-18C>G)
c.5-18642C>G (n.5-18642C>G)
c.-43-8072C>G (n.-43-8072C>G)
c.-98-32403C>G (n.-98-32403C>G)
n.80-18C>G
n.4322-18C>G
n.4363-18C>G
 dbSNP
17g.43082593G=CA2260778104BRCA1c.4186-18C= (n.4186-18C=)
c.4060-18C= (n.4060-18C=)
c.4183-21C= (n.4183-21C=)
c.4108-18C= (n.4108-18C=)
c.874-18C= (n.874-18C=)
c.736-18C= (n.736-18C=)
c.3298-18C= (n.3298-18C=)
c.4063-18C= (n.4063-18C=)
c.4045-18C= (n.4045-18C=)
c.754-21C= (n.754-21C=)
c.796-18C= (n.796-18C=)
c.507-18C=
c.760-18C= (n.760-18C=)
c.*3969-18C= (n.*3969-18C=)
c.480-18C=
c.877-18C= (n.877-18C=)
c.499-18C= (n.499-18C=)
c.502-18C= (n.502-18C=)
c.5-18642C= (n.5-18642C=)
c.-43-8072C= (n.-43-8072C=)
c.-98-32403C= (n.-98-32403C=)
n.80-18C=
n.4322-18C=
n.4363-18C=
17g.43082593G>TCA2733648403BRCA1c.4186-18C>A (n.4186-18C>A)
c.4060-18C>A (n.4060-18C>A)
c.4183-21C>A (n.4183-21C>A)
c.4108-18C>A (n.4108-18C>A)
c.874-18C>A (n.874-18C>A)
c.736-18C>A (n.736-18C>A)
c.3298-18C>A (n.3298-18C>A)
c.4063-18C>A (n.4063-18C>A)
c.4045-18C>A (n.4045-18C>A)
c.754-21C>A (n.754-21C>A)
c.796-18C>A (n.796-18C>A)
c.507-18C>A
c.760-18C>A (n.760-18C>A)
c.*3969-18C>A (n.*3969-18C>A)
c.480-18C>A
c.877-18C>A (n.877-18C>A)
c.499-18C>A (n.499-18C>A)
c.502-18C>A (n.502-18C>A)
c.5-18642C>A (n.5-18642C>A)
c.-43-8072C>A (n.-43-8072C>A)
c.-98-32403C>A (n.-98-32403C>A)
n.80-18C>A
n.4322-18C>A
n.4363-18C>A
 dbSNP
17g.43082594G>ACA002695BRCA1c.4186-19C>T (n.4186-19C>T)
c.4060-19C>T (n.4060-19C>T)
c.4183-22C>T (n.4183-22C>T)
c.4108-19C>T (n.4108-19C>T)
c.874-19C>T (n.874-19C>T)
c.736-19C>T (n.736-19C>T)
c.3298-19C>T (n.3298-19C>T)
c.4063-19C>T (n.4063-19C>T)
c.4045-19C>T (n.4045-19C>T)
c.754-22C>T (n.754-22C>T)
c.796-19C>T (n.796-19C>T)
c.507-19C>T
c.760-19C>T (n.760-19C>T)
c.*3969-19C>T (n.*3969-19C>T)
c.480-19C>T
c.877-19C>T (n.877-19C>T)
c.499-19C>T (n.499-19C>T)
c.502-19C>T (n.502-19C>T)
c.5-18643C>T (n.5-18643C>T)
c.-43-8073C>T (n.-43-8073C>T)
c.-98-32404C>T (n.-98-32404C>T)
n.80-19C>T
n.4322-19C>T
n.4363-19C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082594G>CCA913188888BRCA1c.4186-19C>G (n.4186-19C>G)
c.4060-19C>G (n.4060-19C>G)
c.4183-22C>G (n.4183-22C>G)
c.4108-19C>G (n.4108-19C>G)
c.874-19C>G (n.874-19C>G)
c.736-19C>G (n.736-19C>G)
c.3298-19C>G (n.3298-19C>G)
c.4063-19C>G (n.4063-19C>G)
c.4045-19C>G (n.4045-19C>G)
c.754-22C>G (n.754-22C>G)
c.796-19C>G (n.796-19C>G)
c.507-19C>G
c.760-19C>G (n.760-19C>G)
c.*3969-19C>G (n.*3969-19C>G)
c.480-19C>G
c.877-19C>G (n.877-19C>G)
c.499-19C>G (n.499-19C>G)
c.502-19C>G (n.502-19C>G)
c.5-18643C>G (n.5-18643C>G)
c.-43-8073C>G (n.-43-8073C>G)
c.-98-32404C>G (n.-98-32404C>G)
n.80-19C>G
n.4322-19C>G
n.4363-19C>G
 ClinVar dbSNP
17g.43082594G=CA2260778105BRCA1c.4186-19C= (n.4186-19C=)
c.4060-19C= (n.4060-19C=)
c.4183-22C= (n.4183-22C=)
c.4108-19C= (n.4108-19C=)
c.874-19C= (n.874-19C=)
c.736-19C= (n.736-19C=)
c.3298-19C= (n.3298-19C=)
c.4063-19C= (n.4063-19C=)
c.4045-19C= (n.4045-19C=)
c.754-22C= (n.754-22C=)
c.796-19C= (n.796-19C=)
c.507-19C=
c.760-19C= (n.760-19C=)
c.*3969-19C= (n.*3969-19C=)
c.480-19C=
c.877-19C= (n.877-19C=)
c.499-19C= (n.499-19C=)
c.502-19C= (n.502-19C=)
c.5-18643C= (n.5-18643C=)
c.-43-8073C= (n.-43-8073C=)
c.-98-32404C= (n.-98-32404C=)
n.80-19C=
n.4322-19C=
n.4363-19C=
17g.43082594G>TCA2739265603BRCA1c.4186-19C>A (n.4186-19C>A)
c.4060-19C>A (n.4060-19C>A)
c.4183-22C>A (n.4183-22C>A)
c.4108-19C>A (n.4108-19C>A)
c.874-19C>A (n.874-19C>A)
c.736-19C>A (n.736-19C>A)
c.3298-19C>A (n.3298-19C>A)
c.4063-19C>A (n.4063-19C>A)
c.4045-19C>A (n.4045-19C>A)
c.754-22C>A (n.754-22C>A)
c.796-19C>A (n.796-19C>A)
c.507-19C>A
c.760-19C>A (n.760-19C>A)
c.*3969-19C>A (n.*3969-19C>A)
c.480-19C>A
c.877-19C>A (n.877-19C>A)
c.499-19C>A (n.499-19C>A)
c.502-19C>A (n.502-19C>A)
c.5-18643C>A (n.5-18643C>A)
c.-43-8073C>A (n.-43-8073C>A)
c.-98-32404C>A (n.-98-32404C>A)
n.80-19C>A
n.4322-19C>A
n.4363-19C>A
 ClinVar
17g.43082595C>ACA2733909075BRCA1c.4186-20G>T (n.4186-20G>T)
c.4060-20G>T (n.4060-20G>T)
c.4183-23G>T (n.4183-23G>T)
c.4108-20G>T (n.4108-20G>T)
c.874-20G>T (n.874-20G>T)
c.736-20G>T (n.736-20G>T)
c.3298-20G>T (n.3298-20G>T)
c.4063-20G>T (n.4063-20G>T)
c.4045-20G>T (n.4045-20G>T)
c.754-23G>T (n.754-23G>T)
c.796-20G>T (n.796-20G>T)
c.507-20G>T
c.760-20G>T (n.760-20G>T)
c.*3969-20G>T (n.*3969-20G>T)
c.480-20G>T
c.877-20G>T (n.877-20G>T)
c.499-20G>T (n.499-20G>T)
c.502-20G>T (n.502-20G>T)
c.5-18644G>T (n.5-18644G>T)
c.-43-8074G>T (n.-43-8074G>T)
c.-98-32405G>T (n.-98-32405G>T)
n.80-20G>T
n.4322-20G>T
n.4363-20G>T
 dbSNP
17g.43082595C>GCA2733909076BRCA1c.4186-20G>C (n.4186-20G>C)
c.4060-20G>C (n.4060-20G>C)
c.4183-23G>C (n.4183-23G>C)
c.4108-20G>C (n.4108-20G>C)
c.874-20G>C (n.874-20G>C)
c.736-20G>C (n.736-20G>C)
c.3298-20G>C (n.3298-20G>C)
c.4063-20G>C (n.4063-20G>C)
c.4045-20G>C (n.4045-20G>C)
c.754-23G>C (n.754-23G>C)
c.796-20G>C (n.796-20G>C)
c.507-20G>C
c.760-20G>C (n.760-20G>C)
c.*3969-20G>C (n.*3969-20G>C)
c.480-20G>C
c.877-20G>C (n.877-20G>C)
c.499-20G>C (n.499-20G>C)
c.502-20G>C (n.502-20G>C)
c.5-18644G>C (n.5-18644G>C)
c.-43-8074G>C (n.-43-8074G>C)
c.-98-32405G>C (n.-98-32405G>C)
n.80-20G>C
n.4322-20G>C
n.4363-20G>C
 dbSNP
17g.43082595C>TCA2733909079BRCA1c.4186-20G>A (n.4186-20G>A)
c.4060-20G>A (n.4060-20G>A)
c.4183-23G>A (n.4183-23G>A)
c.4108-20G>A (n.4108-20G>A)
c.874-20G>A (n.874-20G>A)
c.736-20G>A (n.736-20G>A)
c.3298-20G>A (n.3298-20G>A)
c.4063-20G>A (n.4063-20G>A)
c.4045-20G>A (n.4045-20G>A)
c.754-23G>A (n.754-23G>A)
c.796-20G>A (n.796-20G>A)
c.507-20G>A
c.760-20G>A (n.760-20G>A)
c.*3969-20G>A (n.*3969-20G>A)
c.480-20G>A
c.877-20G>A (n.877-20G>A)
c.499-20G>A (n.499-20G>A)
c.502-20G>A (n.502-20G>A)
c.5-18644G>A (n.5-18644G>A)
c.-43-8074G>A (n.-43-8074G>A)
c.-98-32405G>A (n.-98-32405G>A)
n.80-20G>A
n.4322-20G>A
n.4363-20G>A
 dbSNP
17g.43082597C>ACA2733667402BRCA1c.4186-22G>T (n.4186-22G>T)
c.4060-22G>T (n.4060-22G>T)
c.4183-25G>T (n.4183-25G>T)
c.4108-22G>T (n.4108-22G>T)
c.874-22G>T (n.874-22G>T)
c.736-22G>T (n.736-22G>T)
c.3298-22G>T (n.3298-22G>T)
c.4063-22G>T (n.4063-22G>T)
c.4045-22G>T (n.4045-22G>T)
c.754-25G>T (n.754-25G>T)
c.796-22G>T (n.796-22G>T)
c.507-22G>T
c.760-22G>T (n.760-22G>T)
c.*3969-22G>T (n.*3969-22G>T)
c.480-22G>T
c.877-22G>T (n.877-22G>T)
c.499-22G>T (n.499-22G>T)
c.502-22G>T (n.502-22G>T)
c.5-18646G>T (n.5-18646G>T)
c.-43-8076G>T (n.-43-8076G>T)
c.-98-32407G>T (n.-98-32407G>T)
n.80-22G>T
n.4322-22G>T
n.4363-22G>T
 dbSNP
17g.43082597C=CA2260778106BRCA1c.4186-22G= (n.4186-22G=)
c.4060-22G= (n.4060-22G=)
c.4183-25G= (n.4183-25G=)
c.4108-22G= (n.4108-22G=)
c.874-22G= (n.874-22G=)
c.736-22G= (n.736-22G=)
c.3298-22G= (n.3298-22G=)
c.4063-22G= (n.4063-22G=)
c.4045-22G= (n.4045-22G=)
c.754-25G= (n.754-25G=)
c.796-22G= (n.796-22G=)
c.507-22G=
c.760-22G= (n.760-22G=)
c.*3969-22G= (n.*3969-22G=)
c.480-22G=
c.877-22G= (n.877-22G=)
c.499-22G= (n.499-22G=)
c.502-22G= (n.502-22G=)
c.5-18646G= (n.5-18646G=)
c.-43-8076G= (n.-43-8076G=)
c.-98-32407G= (n.-98-32407G=)
n.80-22G=
n.4322-22G=
n.4363-22G=
17g.43082597C>GCA2733667403BRCA1c.4186-22G>C (n.4186-22G>C)
c.4060-22G>C (n.4060-22G>C)
c.4183-25G>C (n.4183-25G>C)
c.4108-22G>C (n.4108-22G>C)
c.874-22G>C (n.874-22G>C)
c.736-22G>C (n.736-22G>C)
c.3298-22G>C (n.3298-22G>C)
c.4063-22G>C (n.4063-22G>C)
c.4045-22G>C (n.4045-22G>C)
c.754-25G>C (n.754-25G>C)
c.796-22G>C (n.796-22G>C)
c.507-22G>C
c.760-22G>C (n.760-22G>C)
c.*3969-22G>C (n.*3969-22G>C)
c.480-22G>C
c.877-22G>C (n.877-22G>C)
c.499-22G>C (n.499-22G>C)
c.502-22G>C (n.502-22G>C)
c.5-18646G>C (n.5-18646G>C)
c.-43-8076G>C (n.-43-8076G>C)
c.-98-32407G>C (n.-98-32407G>C)
n.80-22G>C
n.4322-22G>C
n.4363-22G>C
 dbSNP
17g.43082597C>TCA626084099BRCA1c.4186-22G>A (n.4186-22G>A)
c.4060-22G>A (n.4060-22G>A)
c.4183-25G>A (n.4183-25G>A)
c.4108-22G>A (n.4108-22G>A)
c.874-22G>A (n.874-22G>A)
c.736-22G>A (n.736-22G>A)
c.3298-22G>A (n.3298-22G>A)
c.4063-22G>A (n.4063-22G>A)
c.4045-22G>A (n.4045-22G>A)
c.754-25G>A (n.754-25G>A)
c.796-22G>A (n.796-22G>A)
c.507-22G>A
c.760-22G>A (n.760-22G>A)
c.*3969-22G>A (n.*3969-22G>A)
c.480-22G>A
c.877-22G>A (n.877-22G>A)
c.499-22G>A (n.499-22G>A)
c.502-22G>A (n.502-22G>A)
c.5-18646G>A (n.5-18646G>A)
c.-43-8076G>A (n.-43-8076G>A)
c.-98-32407G>A (n.-98-32407G>A)
n.80-22G>A
n.4322-22G>A
n.4363-22G>A
 dbSNP gnomAD v2 gnomAD v4
17g.43082598C>ACA2733693199BRCA1c.4186-23G>T (n.4186-23G>T)
c.4060-23G>T (n.4060-23G>T)
c.4183-26G>T (n.4183-26G>T)
c.4108-23G>T (n.4108-23G>T)
c.874-23G>T (n.874-23G>T)
c.736-23G>T (n.736-23G>T)
c.3298-23G>T (n.3298-23G>T)
c.4063-23G>T (n.4063-23G>T)
c.4045-23G>T (n.4045-23G>T)
c.754-26G>T (n.754-26G>T)
c.796-23G>T (n.796-23G>T)
c.507-23G>T
c.760-23G>T (n.760-23G>T)
c.*3969-23G>T (n.*3969-23G>T)
c.480-23G>T
c.877-23G>T (n.877-23G>T)
c.499-23G>T (n.499-23G>T)
c.502-23G>T (n.502-23G>T)
c.5-18647G>T (n.5-18647G>T)
c.-43-8077G>T (n.-43-8077G>T)
c.-98-32408G>T (n.-98-32408G>T)
n.80-23G>T
n.4322-23G>T
n.4363-23G>T
 dbSNP
17g.43082598C=CA2260778107BRCA1c.4186-23G= (n.4186-23G=)
c.4060-23G= (n.4060-23G=)
c.4183-26G= (n.4183-26G=)
c.4108-23G= (n.4108-23G=)
c.874-23G= (n.874-23G=)
c.736-23G= (n.736-23G=)
c.3298-23G= (n.3298-23G=)
c.4063-23G= (n.4063-23G=)
c.4045-23G= (n.4045-23G=)
c.754-26G= (n.754-26G=)
c.796-23G= (n.796-23G=)
c.507-23G=
c.760-23G= (n.760-23G=)
c.*3969-23G= (n.*3969-23G=)
c.480-23G=
c.877-23G= (n.877-23G=)
c.499-23G= (n.499-23G=)
c.502-23G= (n.502-23G=)
c.5-18647G= (n.5-18647G=)
c.-43-8077G= (n.-43-8077G=)
c.-98-32408G= (n.-98-32408G=)
n.80-23G=
n.4322-23G=
n.4363-23G=
17g.43082598C>GCA2638063484BRCA1c.4186-23G>C (n.4186-23G>C)
c.4060-23G>C (n.4060-23G>C)
c.4183-26G>C (n.4183-26G>C)
c.4108-23G>C (n.4108-23G>C)
c.874-23G>C (n.874-23G>C)
c.736-23G>C (n.736-23G>C)
c.3298-23G>C (n.3298-23G>C)
c.4063-23G>C (n.4063-23G>C)
c.4045-23G>C (n.4045-23G>C)
c.754-26G>C (n.754-26G>C)
c.796-23G>C (n.796-23G>C)
c.507-23G>C
c.760-23G>C (n.760-23G>C)
c.*3969-23G>C (n.*3969-23G>C)
c.480-23G>C
c.877-23G>C (n.877-23G>C)
c.499-23G>C (n.499-23G>C)
c.502-23G>C (n.502-23G>C)
c.5-18647G>C (n.5-18647G>C)
c.-43-8077G>C (n.-43-8077G>C)
c.-98-32408G>C (n.-98-32408G>C)
n.80-23G>C
n.4322-23G>C
n.4363-23G>C
 dbSNP gnomAD v4
17g.43082598C>TCA983880384BRCA1c.4186-23G>A (n.4186-23G>A)
c.4060-23G>A (n.4060-23G>A)
c.4183-26G>A (n.4183-26G>A)
c.4108-23G>A (n.4108-23G>A)
c.874-23G>A (n.874-23G>A)
c.736-23G>A (n.736-23G>A)
c.3298-23G>A (n.3298-23G>A)
c.4063-23G>A (n.4063-23G>A)
c.4045-23G>A (n.4045-23G>A)
c.754-26G>A (n.754-26G>A)
c.796-23G>A (n.796-23G>A)
c.507-23G>A
c.760-23G>A (n.760-23G>A)
c.*3969-23G>A (n.*3969-23G>A)
c.480-23G>A
c.877-23G>A (n.877-23G>A)
c.499-23G>A (n.499-23G>A)
c.502-23G>A (n.502-23G>A)
c.5-18647G>A (n.5-18647G>A)
c.-43-8077G>A (n.-43-8077G>A)
c.-98-32408G>A (n.-98-32408G>A)
n.80-23G>A
n.4322-23G>A
n.4363-23G>A
 dbSNP gnomAD v3 gnomAD v4
17g.43082600A=CA2260778108BRCA1c.4186-25T= (n.4186-25T=)
c.4060-25T= (n.4060-25T=)
c.4183-28T= (n.4183-28T=)
c.4108-25T= (n.4108-25T=)
c.874-25T= (n.874-25T=)
c.736-25T= (n.736-25T=)
c.3298-25T= (n.3298-25T=)
c.4063-25T= (n.4063-25T=)
c.4045-25T= (n.4045-25T=)
c.754-28T= (n.754-28T=)
c.796-25T= (n.796-25T=)
c.507-25T=
c.760-25T= (n.760-25T=)
c.*3969-25T= (n.*3969-25T=)
c.480-25T=
c.877-25T= (n.877-25T=)
c.499-25T= (n.499-25T=)
c.502-25T= (n.502-25T=)
c.5-18649T= (n.5-18649T=)
c.-43-8079T= (n.-43-8079T=)
c.-98-32410T= (n.-98-32410T=)
n.80-25T=
n.4322-25T=
n.4363-25T=
17g.43082600A>CCA772180395BRCA1c.4186-25T>G (n.4186-25T>G)
c.4060-25T>G (n.4060-25T>G)
c.4183-28T>G (n.4183-28T>G)
c.4108-25T>G (n.4108-25T>G)
c.874-25T>G (n.874-25T>G)
c.736-25T>G (n.736-25T>G)
c.3298-25T>G (n.3298-25T>G)
c.4063-25T>G (n.4063-25T>G)
c.4045-25T>G (n.4045-25T>G)
c.754-28T>G (n.754-28T>G)
c.796-25T>G (n.796-25T>G)
c.507-25T>G
c.760-25T>G (n.760-25T>G)
c.*3969-25T>G (n.*3969-25T>G)
c.480-25T>G
c.877-25T>G (n.877-25T>G)
c.499-25T>G (n.499-25T>G)
c.502-25T>G (n.502-25T>G)
c.5-18649T>G (n.5-18649T>G)
c.-43-8079T>G (n.-43-8079T>G)
c.-98-32410T>G (n.-98-32410T>G)
n.80-25T>G
n.4322-25T>G
n.4363-25T>G
 dbSNP
17g.43082601G>CCA2733646692BRCA1c.4186-26C>G (n.4186-26C>G)
c.4060-26C>G (n.4060-26C>G)
c.4183-29C>G (n.4183-29C>G)
c.4108-26C>G (n.4108-26C>G)
c.874-26C>G (n.874-26C>G)
c.736-26C>G (n.736-26C>G)
c.3298-26C>G (n.3298-26C>G)
c.4063-26C>G (n.4063-26C>G)
c.4045-26C>G (n.4045-26C>G)
c.754-29C>G (n.754-29C>G)
c.796-26C>G (n.796-26C>G)
c.507-26C>G
c.760-26C>G (n.760-26C>G)
c.*3969-26C>G (n.*3969-26C>G)
c.480-26C>G
c.877-26C>G (n.877-26C>G)
c.499-26C>G (n.499-26C>G)
c.502-26C>G (n.502-26C>G)
c.5-18650C>G (n.5-18650C>G)
c.-43-8080C>G (n.-43-8080C>G)
c.-98-32411C>G (n.-98-32411C>G)
n.80-26C>G
n.4322-26C>G
n.4363-26C>G
 dbSNP
17g.43082601G=CA2260778109BRCA1c.4186-26C= (n.4186-26C=)
c.4060-26C= (n.4060-26C=)
c.4183-29C= (n.4183-29C=)
c.4108-26C= (n.4108-26C=)
c.874-26C= (n.874-26C=)
c.736-26C= (n.736-26C=)
c.3298-26C= (n.3298-26C=)
c.4063-26C= (n.4063-26C=)
c.4045-26C= (n.4045-26C=)
c.754-29C= (n.754-29C=)
c.796-26C= (n.796-26C=)
c.507-26C=
c.760-26C= (n.760-26C=)
c.*3969-26C= (n.*3969-26C=)
c.480-26C=
c.877-26C= (n.877-26C=)
c.499-26C= (n.499-26C=)
c.502-26C= (n.502-26C=)
c.5-18650C= (n.5-18650C=)
c.-43-8080C= (n.-43-8080C=)
c.-98-32411C= (n.-98-32411C=)
n.80-26C=
n.4322-26C=
n.4363-26C=
17g.43082601G>TCA059618BRCA1c.4186-26C>A (n.4186-26C>A)
c.4060-26C>A (n.4060-26C>A)
c.4183-29C>A (n.4183-29C>A)
c.4108-26C>A (n.4108-26C>A)
c.874-26C>A (n.874-26C>A)
c.736-26C>A (n.736-26C>A)
c.3298-26C>A (n.3298-26C>A)
c.4063-26C>A (n.4063-26C>A)
c.4045-26C>A (n.4045-26C>A)
c.754-29C>A (n.754-29C>A)
c.796-26C>A (n.796-26C>A)
c.507-26C>A
c.760-26C>A (n.760-26C>A)
c.*3969-26C>A (n.*3969-26C>A)
c.480-26C>A
c.877-26C>A (n.877-26C>A)
c.499-26C>A (n.499-26C>A)
c.502-26C>A (n.502-26C>A)
c.5-18650C>A (n.5-18650C>A)
c.-43-8080C>A (n.-43-8080C>A)
c.-98-32411C>A (n.-98-32411C>A)
n.80-26C>A
n.4322-26C>A
n.4363-26C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082602A=CA2260778110BRCA1c.4186-27T= (n.4186-27T=)
c.4060-27T= (n.4060-27T=)
c.4183-30T= (n.4183-30T=)
c.4108-27T= (n.4108-27T=)
c.874-27T= (n.874-27T=)
c.736-27T= (n.736-27T=)
c.3298-27T= (n.3298-27T=)
c.4063-27T= (n.4063-27T=)
c.4045-27T= (n.4045-27T=)
c.754-30T= (n.754-30T=)
c.796-27T= (n.796-27T=)
c.507-27T=
c.760-27T= (n.760-27T=)
c.*3969-27T= (n.*3969-27T=)
c.480-27T=
c.877-27T= (n.877-27T=)
c.499-27T= (n.499-27T=)
c.502-27T= (n.502-27T=)
c.5-18651T= (n.5-18651T=)
c.-43-8081T= (n.-43-8081T=)
c.-98-32412T= (n.-98-32412T=)
n.80-27T=
n.4322-27T=
n.4363-27T=
17g.43082602A>TCA626084100BRCA1c.4186-27T>A (n.4186-27T>A)
c.4060-27T>A (n.4060-27T>A)
c.4183-30T>A (n.4183-30T>A)
c.4108-27T>A (n.4108-27T>A)
c.874-27T>A (n.874-27T>A)
c.736-27T>A (n.736-27T>A)
c.3298-27T>A (n.3298-27T>A)
c.4063-27T>A (n.4063-27T>A)
c.4045-27T>A (n.4045-27T>A)
c.754-30T>A (n.754-30T>A)
c.796-27T>A (n.796-27T>A)
c.507-27T>A
c.760-27T>A (n.760-27T>A)
c.*3969-27T>A (n.*3969-27T>A)
c.480-27T>A
c.877-27T>A (n.877-27T>A)
c.499-27T>A (n.499-27T>A)
c.502-27T>A (n.502-27T>A)
c.5-18651T>A (n.5-18651T>A)
c.-43-8081T>A (n.-43-8081T>A)
c.-98-32412T>A (n.-98-32412T>A)
n.80-27T>A
n.4322-27T>A
n.4363-27T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082605delCA2638063496BRCA1c.4186-27del (n.4186-27del)
c.4060-27del (n.4060-27del)
c.4183-30del (n.4183-30del)
c.4108-27del (n.4108-27del)
c.874-27del (n.874-27del)
c.736-27del (n.736-27del)
c.3298-27del (n.3298-27del)
c.4063-27del (n.4063-27del)
c.4045-27del (n.4045-27del)
c.754-30del (n.754-30del)
c.796-27del (n.796-27del)
c.507-27del
c.760-27del (n.760-27del)
c.*3969-27del (n.*3969-27del)
c.480-27del
c.877-27del (n.877-27del)
c.499-27del (n.499-27del)
c.502-27del (n.502-27del)
c.5-18651del (n.5-18651del)
c.-43-8081del (n.-43-8081del)
c.-98-32412del (n.-98-32412del)
n.80-27del
n.4322-27del
n.4363-27del
 gnomAD v4
17g.43082602_43082611delinsAAAATGAAATCA2260778111BRCA1c.4186-36_4186-27delinsATTTCATTTT (n.4186-36_4186-27delinsATTTCATTTT)
c.4060-36_4060-27delinsATTTCATTTT (n.4060-36_4060-27delinsATTTCATTTT)
c.4183-39_4183-30delinsATTTCATTTT (n.4183-39_4183-30delinsATTTCATTTT)
c.4108-36_4108-27delinsATTTCATTTT (n.4108-36_4108-27delinsATTTCATTTT)
c.874-36_874-27delinsATTTCATTTT (n.874-36_874-27delinsATTTCATTTT)
c.736-36_736-27delinsATTTCATTTT (n.736-36_736-27delinsATTTCATTTT)
c.3298-36_3298-27delinsATTTCATTTT (n.3298-36_3298-27delinsATTTCATTTT)
c.4063-36_4063-27delinsATTTCATTTT (n.4063-36_4063-27delinsATTTCATTTT)
c.4045-36_4045-27delinsATTTCATTTT (n.4045-36_4045-27delinsATTTCATTTT)
c.754-39_754-30delinsATTTCATTTT (n.754-39_754-30delinsATTTCATTTT)
c.796-36_796-27delinsATTTCATTTT (n.796-36_796-27delinsATTTCATTTT)
c.507-36_507-27delinsATTTCATTTT
c.760-36_760-27delinsATTTCATTTT (n.760-36_760-27delinsATTTCATTTT)
c.*3969-36_*3969-27delinsATTTCATTTT (n.*3969-36_*3969-27delinsATTTCATTTT)
c.480-36_480-27delinsATTTCATTTT
c.877-36_877-27delinsATTTCATTTT (n.877-36_877-27delinsATTTCATTTT)
c.499-36_499-27delinsATTTCATTTT (n.499-36_499-27delinsATTTCATTTT)
c.502-36_502-27delinsATTTCATTTT (n.502-36_502-27delinsATTTCATTTT)
c.5-18660_5-18651delinsATTTCATTTT (n.5-18660_5-18651delinsATTTCATTTT)
c.-43-8090_-43-8081delinsATTTCATTTT (n.-43-8090_-43-8081delinsATTTCATTTT)
c.-98-32421_-98-32412delinsATTTCATTTT (n.-98-32421_-98-32412delinsATTTCATTTT)
n.80-36_80-27delinsATTTCATTTT
n.4322-36_4322-27delinsATTTCATTTT
n.4363-36_4363-27delinsATTTCATTTT

Number of alleles fetched