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.43082500G>ACA002739BRCA1c.4261C>T (p.His1421Tyr)
c.4135C>T (p.His1379Tyr)
c.4255C>T (p.His1419Tyr)
c.4183C>T (p.His1395Tyr)
c.949C>T (p.His317Tyr)
c.811C>T (p.His271Tyr)
c.3373C>T (p.His1125Tyr)
c.4138C>T (p.His1380Tyr)
c.4120C>T (p.His1374Tyr)
c.826C>T (p.His276Tyr)
c.871C>T (p.His291Tyr)
c.582C>T
c.835C>T (p.His279Tyr)
c.*4044C>T (n.*4044C>T)
c.555C>T
c.952C>T (p.His318Tyr)
c.574C>T (p.His192Tyr)
c.577C>T (p.His193Tyr)
c.5-18549C>T (n.5-18549C>T)
c.-43-7979C>T (n.-43-7979C>T)
c.-98-32310C>T (n.-98-32310C>T)
n.155C>T
n.4397C>T
n.4438C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082500G>CCA10593199BRCA1c.4261C>G (p.His1421Asp)
c.4135C>G (p.His1379Asp)
c.4255C>G (p.His1419Asp)
c.4183C>G (p.His1395Asp)
c.949C>G (p.His317Asp)
c.811C>G (p.His271Asp)
c.3373C>G (p.His1125Asp)
c.4138C>G (p.His1380Asp)
c.4120C>G (p.His1374Asp)
c.826C>G (p.His276Asp)
c.871C>G (p.His291Asp)
c.582C>G
c.835C>G (p.His279Asp)
c.*4044C>G (n.*4044C>G)
c.555C>G
c.952C>G (p.His318Asp)
c.574C>G (p.His192Asp)
c.577C>G (p.His193Asp)
c.5-18549C>G (n.5-18549C>G)
c.-43-7979C>G (n.-43-7979C>G)
c.-98-32310C>G (n.-98-32310C>G)
n.155C>G
n.4397C>G
n.4438C>G
 dbSNP
17g.43082500G=CA2260778026BRCA1c.4261C= (p.His1421=)
c.4135C= (p.His1379=)
c.4255C= (p.His1419=)
c.4183C= (p.His1395=)
c.949C= (p.His317=)
c.811C= (p.His271=)
c.3373C= (p.His1125=)
c.4138C= (p.His1380=)
c.4120C= (p.His1374=)
c.826C= (p.His276=)
c.871C= (p.His291=)
c.582C=
c.835C= (p.His279=)
c.*4044C= (n.*4044C=)
c.555C=
c.952C= (p.His318=)
c.574C= (p.His192=)
c.577C= (p.His193=)
c.5-18549C= (n.5-18549C=)
c.-43-7979C= (n.-43-7979C=)
c.-98-32310C= (n.-98-32310C=)
n.155C=
n.4397C=
n.4438C=
17g.43082500G>TCA10593200BRCA1c.4261C>A (p.His1421Asn)
c.4135C>A (p.His1379Asn)
c.4255C>A (p.His1419Asn)
c.4183C>A (p.His1395Asn)
c.949C>A (p.His317Asn)
c.811C>A (p.His271Asn)
c.3373C>A (p.His1125Asn)
c.4138C>A (p.His1380Asn)
c.4120C>A (p.His1374Asn)
c.826C>A (p.His276Asn)
c.871C>A (p.His291Asn)
c.582C>A
c.835C>A (p.His279Asn)
c.*4044C>A (n.*4044C>A)
c.555C>A
c.952C>A (p.His318Asn)
c.574C>A (p.His192Asn)
c.577C>A (p.His193Asn)
c.5-18549C>A (n.5-18549C>A)
c.-43-7979C>A (n.-43-7979C>A)
c.-98-32310C>A (n.-98-32310C>A)
n.155C>A
n.4397C>A
n.4438C>A
 dbSNP
17g.43082501C>ACA10593201BRCA1c.4260G>T (p.Gln1420His)
c.4134G>T (p.Gln1378His)
c.4254G>T (p.Gln1418His)
c.4182G>T (p.Gln1394His)
c.948G>T (p.Gln316His)
c.810G>T (p.Gln270His)
c.3372G>T (p.Gln1124His)
c.4137G>T (p.Gln1379His)
c.4119G>T (p.Gln1373His)
c.825G>T (p.Gln275His)
c.870G>T (p.Gln290His)
c.581G>T
c.834G>T (p.Gln278His)
c.*4043G>T (n.*4043G>T)
c.554G>T
c.951G>T (p.Gln317His)
c.573G>T (p.Gln191His)
c.576G>T (p.Gln192His)
c.5-18550G>T (n.5-18550G>T)
c.-43-7980G>T (n.-43-7980G>T)
c.-98-32311G>T (n.-98-32311G>T)
n.154G>T
n.4396G>T
n.4437G>T
 ClinVar dbSNP
17g.43082501C=CA2260778027BRCA1c.4260G= (p.Gln1420=)
c.4134G= (p.Gln1378=)
c.4254G= (p.Gln1418=)
c.4182G= (p.Gln1394=)
c.948G= (p.Gln316=)
c.810G= (p.Gln270=)
c.3372G= (p.Gln1124=)
c.4137G= (p.Gln1379=)
c.4119G= (p.Gln1373=)
c.825G= (p.Gln275=)
c.870G= (p.Gln290=)
c.581G=
c.834G= (p.Gln278=)
c.*4043G= (n.*4043G=)
c.554G=
c.951G= (p.Gln317=)
c.573G= (p.Gln191=)
c.576G= (p.Gln192=)
c.5-18550G= (n.5-18550G=)
c.-43-7980G= (n.-43-7980G=)
c.-98-32311G= (n.-98-32311G=)
n.154G=
n.4396G=
n.4437G=
17g.43082501C>GCA10593202BRCA1c.4260G>C (p.Gln1420His)
c.4134G>C (p.Gln1378His)
c.4254G>C (p.Gln1418His)
c.4182G>C (p.Gln1394His)
c.948G>C (p.Gln316His)
c.810G>C (p.Gln270His)
c.3372G>C (p.Gln1124His)
c.4137G>C (p.Gln1379His)
c.4119G>C (p.Gln1373His)
c.825G>C (p.Gln275His)
c.870G>C (p.Gln290His)
c.581G>C
c.834G>C (p.Gln278His)
c.*4043G>C (n.*4043G>C)
c.554G>C
c.951G>C (p.Gln317His)
c.573G>C (p.Gln191His)
c.576G>C (p.Gln192His)
c.5-18550G>C (n.5-18550G>C)
c.-43-7980G>C (n.-43-7980G>C)
c.-98-32311G>C (n.-98-32311G>C)
n.154G>C
n.4396G>C
n.4437G>C
 dbSNP
17g.43082501C>TCA500148401BRCA1c.4260G>A (p.Gln1420=)
c.4134G>A (p.Gln1378=)
c.4254G>A (p.Gln1418=)
c.4182G>A (p.Gln1394=)
c.948G>A (p.Gln316=)
c.810G>A (p.Gln270=)
c.3372G>A (p.Gln1124=)
c.4137G>A (p.Gln1379=)
c.4119G>A (p.Gln1373=)
c.825G>A (p.Gln275=)
c.870G>A (p.Gln290=)
c.581G>A
c.834G>A (p.Gln278=)
c.*4043G>A (n.*4043G>A)
c.554G>A
c.951G>A (p.Gln317=)
c.573G>A (p.Gln191=)
c.576G>A (p.Gln192=)
c.5-18550G>A (n.5-18550G>A)
c.-43-7980G>A (n.-43-7980G>A)
c.-98-32311G>A (n.-98-32311G>A)
n.154G>A
n.4396G>A
n.4437G>A
 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

Number of alleles fetched