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.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.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.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.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

Number of alleles fetched