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.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

Number of alleles fetched