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.43082507T>ACA10593213BRCA1c.4254A>T (p.Leu1418Phe)
c.4128A>T (p.Leu1376Phe)
c.4248A>T (p.Leu1416Phe)
c.4176A>T (p.Leu1392Phe)
c.942A>T (p.Leu314Phe)
c.804A>T (p.Leu268Phe)
c.3366A>T (p.Leu1122Phe)
c.4131A>T (p.Leu1377Phe)
c.4113A>T (p.Leu1371Phe)
c.819A>T (p.Leu273Phe)
c.864A>T (p.Leu288Phe)
c.575A>T
c.828A>T (p.Leu276Phe)
c.*4037A>T (n.*4037A>T)
c.548A>T
c.945A>T (p.Leu315Phe)
c.567A>T (p.Leu189Phe)
c.570A>T (p.Leu190Phe)
c.5-18556A>T (n.5-18556A>T)
c.-43-7986A>T (n.-43-7986A>T)
c.-98-32317A>T (n.-98-32317A>T)
n.148A>T
n.4390A>T
n.4431A>T
 ClinVar dbSNP
17g.43082507T>CCA500148403BRCA1c.4254A>G (p.Leu1418=)
c.4128A>G (p.Leu1376=)
c.4248A>G (p.Leu1416=)
c.4176A>G (p.Leu1392=)
c.942A>G (p.Leu314=)
c.804A>G (p.Leu268=)
c.3366A>G (p.Leu1122=)
c.4131A>G (p.Leu1377=)
c.4113A>G (p.Leu1371=)
c.819A>G (p.Leu273=)
c.864A>G (p.Leu288=)
c.575A>G
c.828A>G (p.Leu276=)
c.*4037A>G (n.*4037A>G)
c.548A>G
c.945A>G (p.Leu315=)
c.567A>G (p.Leu189=)
c.570A>G (p.Leu190=)
c.5-18556A>G (n.5-18556A>G)
c.-43-7986A>G (n.-43-7986A>G)
c.-98-32317A>G (n.-98-32317A>G)
n.148A>G
n.4390A>G
n.4431A>G
 gnomAD v4
17g.43082507T>GCA10593214BRCA1c.4254A>C (p.Leu1418Phe)
c.4128A>C (p.Leu1376Phe)
c.4248A>C (p.Leu1416Phe)
c.4176A>C (p.Leu1392Phe)
c.942A>C (p.Leu314Phe)
c.804A>C (p.Leu268Phe)
c.3366A>C (p.Leu1122Phe)
c.4131A>C (p.Leu1377Phe)
c.4113A>C (p.Leu1371Phe)
c.819A>C (p.Leu273Phe)
c.864A>C (p.Leu288Phe)
c.575A>C
c.828A>C (p.Leu276Phe)
c.*4037A>C (n.*4037A>C)
c.548A>C
c.945A>C (p.Leu315Phe)
c.567A>C (p.Leu189Phe)
c.570A>C (p.Leu190Phe)
c.5-18556A>C (n.5-18556A>C)
c.-43-7986A>C (n.-43-7986A>C)
c.-98-32317A>C (n.-98-32317A>C)
n.148A>C
n.4390A>C
n.4431A>C
17g.43082507T=CA2260778030BRCA1c.4254A= (p.Leu1418=)
c.4128A= (p.Leu1376=)
c.4248A= (p.Leu1416=)
c.4176A= (p.Leu1392=)
c.942A= (p.Leu314=)
c.804A= (p.Leu268=)
c.3366A= (p.Leu1122=)
c.4131A= (p.Leu1377=)
c.4113A= (p.Leu1371=)
c.819A= (p.Leu273=)
c.864A= (p.Leu288=)
c.575A=
c.828A= (p.Leu276=)
c.*4037A= (n.*4037A=)
c.548A=
c.945A= (p.Leu315=)
c.567A= (p.Leu189=)
c.570A= (p.Leu190=)
c.5-18556A= (n.5-18556A=)
c.-43-7986A= (n.-43-7986A=)
c.-98-32317A= (n.-98-32317A=)
n.148A=
n.4390A=
n.4431A=
17g.43082508A=CA2260778032BRCA1c.4253T= (p.Leu1418=)
c.4127T= (p.Leu1376=)
c.4247T= (p.Leu1416=)
c.4175T= (p.Leu1392=)
c.941T= (p.Leu314=)
c.803T= (p.Leu268=)
c.3365T= (p.Leu1122=)
c.4130T= (p.Leu1377=)
c.4112T= (p.Leu1371=)
c.818T= (p.Leu273=)
c.863T= (p.Leu288=)
c.574T=
c.827T= (p.Leu276=)
c.*4036T= (n.*4036T=)
c.547T=
c.944T= (p.Leu315=)
c.566T= (p.Leu189=)
c.569T= (p.Leu190=)
c.5-18557T= (n.5-18557T=)
c.-43-7987T= (n.-43-7987T=)
c.-98-32318T= (n.-98-32318T=)
n.147T=
n.4389T=
n.4430T=
17g.43082508A>CCA002733BRCA1c.4253T>G (p.Leu1418Ter)
c.4127T>G (p.Leu1376Ter)
c.4247T>G (p.Leu1416Ter)
c.4175T>G (p.Leu1392Ter)
c.941T>G (p.Leu314Ter)
c.803T>G (p.Leu268Ter)
c.3365T>G (p.Leu1122Ter)
c.4130T>G (p.Leu1377Ter)
c.4112T>G (p.Leu1371Ter)
c.818T>G (p.Leu273Ter)
c.863T>G (p.Leu288Ter)
c.574T>G
c.827T>G (p.Leu276Ter)
c.*4036T>G (n.*4036T>G)
c.547T>G
c.944T>G (p.Leu315Ter)
c.566T>G (p.Leu189Ter)
c.569T>G (p.Leu190Ter)
c.5-18557T>G (n.5-18557T>G)
c.-43-7987T>G (n.-43-7987T>G)
c.-98-32318T>G (n.-98-32318T>G)
n.147T>G
n.4389T>G
n.4430T>G
 ClinVar dbSNP
17g.43082508A>GCA10584555BRCA1c.4253T>C (p.Leu1418Ser)
c.4127T>C (p.Leu1376Ser)
c.4247T>C (p.Leu1416Ser)
c.4175T>C (p.Leu1392Ser)
c.941T>C (p.Leu314Ser)
c.803T>C (p.Leu268Ser)
c.3365T>C (p.Leu1122Ser)
c.4130T>C (p.Leu1377Ser)
c.4112T>C (p.Leu1371Ser)
c.818T>C (p.Leu273Ser)
c.863T>C (p.Leu288Ser)
c.574T>C
c.827T>C (p.Leu276Ser)
c.*4036T>C (n.*4036T>C)
c.547T>C
c.944T>C (p.Leu315Ser)
c.566T>C (p.Leu189Ser)
c.569T>C (p.Leu190Ser)
c.5-18557T>C (n.5-18557T>C)
c.-43-7987T>C (n.-43-7987T>C)
c.-98-32318T>C (n.-98-32318T>C)
n.147T>C
n.4389T>C
n.4430T>C
 ClinVar dbSNP gnomAD v4
17g.43082508A>TCA10593215BRCA1c.4253T>A (p.Leu1418Ter)
c.4127T>A (p.Leu1376Ter)
c.4247T>A (p.Leu1416Ter)
c.4175T>A (p.Leu1392Ter)
c.941T>A (p.Leu314Ter)
c.803T>A (p.Leu268Ter)
c.3365T>A (p.Leu1122Ter)
c.4130T>A (p.Leu1377Ter)
c.4112T>A (p.Leu1371Ter)
c.818T>A (p.Leu273Ter)
c.863T>A (p.Leu288Ter)
c.574T>A
c.827T>A (p.Leu276Ter)
c.*4036T>A (n.*4036T>A)
c.547T>A
c.944T>A (p.Leu315Ter)
c.566T>A (p.Leu189Ter)
c.569T>A (p.Leu190Ter)
c.5-18557T>A (n.5-18557T>A)
c.-43-7987T>A (n.-43-7987T>A)
c.-98-32318T>A (n.-98-32318T>A)
n.147T>A
n.4389T>A
n.4430T>A
17g.43082509dupCA2580093808BRCA1c.4253dup (p.Leu1418PhefsTer10)
c.4127dup (p.Leu1376PhefsTer10)
c.4247dup (p.Leu1416PhefsTer10)
c.4175dup (p.Leu1392PhefsTer10)
c.941dup (p.Leu314PhefsTer10)
c.803dup (p.Leu268PhefsTer10)
c.3365dup (p.Leu1122PhefsTer10)
c.4130dup (p.Leu1377PhefsTer10)
c.4112dup (p.Leu1371PhefsTer10)
c.818dup (p.Leu273PhefsTer10)
c.863dup (p.Leu288PhefsTer10)
c.574dup
c.827dup (p.Leu276PhefsTer10)
c.*4036dup (n.*4036dup)
c.547dup
c.944dup (p.Leu315PhefsTer10)
c.566dup (p.Leu189PhefsTer10)
c.569dup (p.Leu190PhefsTer10)
c.5-18557dup (n.5-18557dup)
c.-43-7987dup (n.-43-7987dup)
c.-98-32318dup (n.-98-32318dup)
n.147dup
n.4389dup
n.4430dup
 ClinVar
17g.43082509delCA2499224426BRCA1c.4253del (p.Leu1418Ter)
c.4127del (p.Leu1376Ter)
c.4247del (p.Leu1416Ter)
c.4175del (p.Leu1392Ter)
c.941del (p.Leu314Ter)
c.803del (p.Leu268Ter)
c.3365del (p.Leu1122Ter)
c.4130del (p.Leu1377Ter)
c.4112del (p.Leu1371Ter)
c.818del (p.Leu273Ter)
c.863del (p.Leu288Ter)
c.574del
c.827del (p.Leu276Ter)
c.*4036del (n.*4036del)
c.547del
c.944del (p.Leu315Ter)
c.566del (p.Leu189Ter)
c.569del (p.Leu190Ter)
c.5-18557del (n.5-18557del)
c.-43-7987del (n.-43-7987del)
c.-98-32318del (n.-98-32318del)
n.147del
n.4389del
n.4430del
 ClinVar dbSNP
17g.43082508_43082510delinsAACCA2260778031BRCA1c.4251_4253delinsGTT (p.Val1417=)
c.4125_4127delinsGTT (p.Val1375=)
c.4245_4247delinsGTT (p.Val1415=)
c.4173_4175delinsGTT (p.Val1391=)
c.939_941delinsGTT (p.Val313=)
c.801_803delinsGTT (p.Val267=)
c.3363_3365delinsGTT (p.Val1121=)
c.4128_4130delinsGTT (p.Val1376=)
c.4110_4112delinsGTT (p.Val1370=)
c.816_818delinsGTT (p.Val272=)
c.861_863delinsGTT (p.Val287=)
c.572_574delinsGTT
c.825_827delinsGTT (p.Val275=)
c.*4034_*4036delinsGTT (n.*4034_*4036delinsGTT)
c.545_547delinsGTT
c.942_944delinsGTT (p.Val314=)
c.564_566delinsGTT (p.Val188=)
c.567_569delinsGTT (p.Val189=)
c.5-18559_5-18557delinsGTT (n.5-18559_5-18557delinsGTT)
c.-43-7989_-43-7987delinsGTT (n.-43-7989_-43-7987delinsGTT)
c.-98-32320_-98-32318delinsGTT (n.-98-32320_-98-32318delinsGTT)
n.145_147delinsGTT
n.4387_4389delinsGTT
n.4428_4430delinsGTT
17g.43082509A>CCA10593216BRCA1c.4252T>G (p.Leu1418Val)
c.4126T>G (p.Leu1376Val)
c.4246T>G (p.Leu1416Val)
c.4174T>G (p.Leu1392Val)
c.940T>G (p.Leu314Val)
c.802T>G (p.Leu268Val)
c.3364T>G (p.Leu1122Val)
c.4129T>G (p.Leu1377Val)
c.4111T>G (p.Leu1371Val)
c.817T>G (p.Leu273Val)
c.862T>G (p.Leu288Val)
c.573T>G
c.826T>G (p.Leu276Val)
c.*4035T>G (n.*4035T>G)
c.546T>G
c.943T>G (p.Leu315Val)
c.565T>G (p.Leu189Val)
c.568T>G (p.Leu190Val)
c.5-18558T>G (n.5-18558T>G)
c.-43-7988T>G (n.-43-7988T>G)
c.-98-32319T>G (n.-98-32319T>G)
n.146T>G
n.4388T>G
n.4429T>G
 dbSNP
17g.43082509A>GCA500148404BRCA1c.4252T>C (p.Leu1418=)
c.4126T>C (p.Leu1376=)
c.4246T>C (p.Leu1416=)
c.4174T>C (p.Leu1392=)
c.940T>C (p.Leu314=)
c.802T>C (p.Leu268=)
c.3364T>C (p.Leu1122=)
c.4129T>C (p.Leu1377=)
c.4111T>C (p.Leu1371=)
c.817T>C (p.Leu273=)
c.862T>C (p.Leu288=)
c.573T>C
c.826T>C (p.Leu276=)
c.*4035T>C (n.*4035T>C)
c.546T>C
c.943T>C (p.Leu315=)
c.565T>C (p.Leu189=)
c.568T>C (p.Leu190=)
c.5-18558T>C (n.5-18558T>C)
c.-43-7988T>C (n.-43-7988T>C)
c.-98-32319T>C (n.-98-32319T>C)
n.146T>C
n.4388T>C
n.4429T>C
 dbSNP
17g.43082509A>TCA10593217BRCA1c.4252T>A (p.Leu1418Ile)
c.4126T>A (p.Leu1376Ile)
c.4246T>A (p.Leu1416Ile)
c.4174T>A (p.Leu1392Ile)
c.940T>A (p.Leu314Ile)
c.802T>A (p.Leu268Ile)
c.3364T>A (p.Leu1122Ile)
c.4129T>A (p.Leu1377Ile)
c.4111T>A (p.Leu1371Ile)
c.817T>A (p.Leu273Ile)
c.862T>A (p.Leu288Ile)
c.573T>A
c.826T>A (p.Leu276Ile)
c.*4035T>A (n.*4035T>A)
c.546T>A
c.943T>A (p.Leu315Ile)
c.565T>A (p.Leu189Ile)
c.568T>A (p.Leu190Ile)
c.5-18558T>A (n.5-18558T>A)
c.-43-7988T>A (n.-43-7988T>A)
c.-98-32319T>A (n.-98-32319T>A)
n.146T>A
n.4388T>A
n.4429T>A
 dbSNP
17g.43082512_43082513delCA002731BRCA1c.4251_4252del (p.Leu1418ArgfsTer9)
c.4125_4126del (p.Leu1376ArgfsTer9)
c.4245_4246del (p.Leu1416ArgfsTer9)
c.4173_4174del (p.Leu1392ArgfsTer9)
c.939_940del (p.Leu314ArgfsTer9)
c.801_802del (p.Leu268ArgfsTer9)
c.3363_3364del (p.Leu1122ArgfsTer9)
c.4128_4129del (p.Leu1377ArgfsTer9)
c.4110_4111del (p.Leu1371ArgfsTer9)
c.816_817del (p.Leu273ArgfsTer9)
c.861_862del (p.Leu288ArgfsTer9)
c.572_573del
c.825_826del (p.Leu276ArgfsTer9)
c.*4034_*4035del (n.*4034_*4035del)
c.545_546del
c.942_943del (p.Leu315ArgfsTer9)
c.564_565del (p.Leu189ArgfsTer9)
c.567_568del (p.Leu190ArgfsTer9)
c.5-18559_5-18558del (n.5-18559_5-18558del)
c.-43-7989_-43-7988del (n.-43-7989_-43-7988del)
c.-98-32320_-98-32319del (n.-98-32320_-98-32319del)
n.145_146del
n.4387_4388del
n.4428_4429del
 ClinVar dbSNP
17g.43082510C>ACA500148405BRCA1c.4251G>T (p.Val1417=)
c.4125G>T (p.Val1375=)
c.4245G>T (p.Val1415=)
c.4173G>T (p.Val1391=)
c.939G>T (p.Val313=)
c.801G>T (p.Val267=)
c.3363G>T (p.Val1121=)
c.4128G>T (p.Val1376=)
c.4110G>T (p.Val1370=)
c.816G>T (p.Val272=)
c.861G>T (p.Val287=)
c.572G>T
c.825G>T (p.Val275=)
c.*4034G>T (n.*4034G>T)
c.545G>T
c.942G>T (p.Val314=)
c.564G>T (p.Val188=)
c.567G>T (p.Val189=)
c.5-18559G>T (n.5-18559G>T)
c.-43-7989G>T (n.-43-7989G>T)
c.-98-32320G>T (n.-98-32320G>T)
n.145G>T
n.4387G>T
n.4428G>T
17g.43082510C=CA2260778033BRCA1c.4251G= (p.Val1417=)
c.4125G= (p.Val1375=)
c.4245G= (p.Val1415=)
c.4173G= (p.Val1391=)
c.939G= (p.Val313=)
c.801G= (p.Val267=)
c.3363G= (p.Val1121=)
c.4128G= (p.Val1376=)
c.4110G= (p.Val1370=)
c.816G= (p.Val272=)
c.861G= (p.Val287=)
c.572G=
c.825G= (p.Val275=)
c.*4034G= (n.*4034G=)
c.545G=
c.942G= (p.Val314=)
c.564G= (p.Val188=)
c.567G= (p.Val189=)
c.5-18559G= (n.5-18559G=)
c.-43-7989G= (n.-43-7989G=)
c.-98-32320G= (n.-98-32320G=)
n.145G=
n.4387G=
n.4428G=
17g.43082510C>GCA500148406BRCA1c.4251G>C (p.Val1417=)
c.4125G>C (p.Val1375=)
c.4245G>C (p.Val1415=)
c.4173G>C (p.Val1391=)
c.939G>C (p.Val313=)
c.801G>C (p.Val267=)
c.3363G>C (p.Val1121=)
c.4128G>C (p.Val1376=)
c.4110G>C (p.Val1370=)
c.816G>C (p.Val272=)
c.861G>C (p.Val287=)
c.572G>C
c.825G>C (p.Val275=)
c.*4034G>C (n.*4034G>C)
c.545G>C
c.942G>C (p.Val314=)
c.564G>C (p.Val188=)
c.567G>C (p.Val189=)
c.5-18559G>C (n.5-18559G>C)
c.-43-7989G>C (n.-43-7989G>C)
c.-98-32320G>C (n.-98-32320G>C)
n.145G>C
n.4387G>C
n.4428G>C
 dbSNP
17g.43082510C>TCA002732BRCA1c.4251G>A (p.Val1417=)
c.4125G>A (p.Val1375=)
c.4245G>A (p.Val1415=)
c.4173G>A (p.Val1391=)
c.939G>A (p.Val313=)
c.801G>A (p.Val267=)
c.3363G>A (p.Val1121=)
c.4128G>A (p.Val1376=)
c.4110G>A (p.Val1370=)
c.816G>A (p.Val272=)
c.861G>A (p.Val287=)
c.572G>A
c.825G>A (p.Val275=)
c.*4034G>A (n.*4034G>A)
c.545G>A
c.942G>A (p.Val314=)
c.564G>A (p.Val188=)
c.567G>A (p.Val189=)
c.5-18559G>A (n.5-18559G>A)
c.-43-7989G>A (n.-43-7989G>A)
c.-98-32320G>A (n.-98-32320G>A)
n.145G>A
n.4387G>A
n.4428G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082510_43082511delinsCACA2260778034BRCA1c.4250_4251delinsTG (p.Val1417=)
c.4124_4125delinsTG (p.Val1375=)
c.4244_4245delinsTG (p.Val1415=)
c.4172_4173delinsTG (p.Val1391=)
c.938_939delinsTG (p.Val313=)
c.800_801delinsTG (p.Val267=)
c.3362_3363delinsTG (p.Val1121=)
c.4127_4128delinsTG (p.Val1376=)
c.4109_4110delinsTG (p.Val1370=)
c.815_816delinsTG (p.Val272=)
c.860_861delinsTG (p.Val287=)
c.571_572delinsTG
c.824_825delinsTG (p.Val275=)
c.*4033_*4034delinsTG (n.*4033_*4034delinsTG)
c.544_545delinsTG
c.941_942delinsTG (p.Val314=)
c.563_564delinsTG (p.Val188=)
c.566_567delinsTG (p.Val189=)
c.5-18560_5-18559delinsTG (n.5-18560_5-18559delinsTG)
c.-43-7990_-43-7989delinsTG (n.-43-7990_-43-7989delinsTG)
c.-98-32321_-98-32320delinsTG (n.-98-32321_-98-32320delinsTG)
n.144_145delinsTG
n.4386_4387delinsTG
n.4427_4428delinsTG
17g.43082511delCA002730BRCA1c.4250del (p.Val1417GlyfsTer2)
c.4124del (p.Val1375GlyfsTer2)
c.4244del (p.Val1415GlyfsTer2)
c.4172del (p.Val1391GlyfsTer2)
c.938del (p.Val313GlyfsTer2)
c.800del (p.Val267GlyfsTer2)
c.3362del (p.Val1121GlyfsTer2)
c.4127del (p.Val1376GlyfsTer2)
c.4109del (p.Val1370GlyfsTer2)
c.815del (p.Val272GlyfsTer2)
c.860del (p.Val287GlyfsTer2)
c.571del
c.824del (p.Val275GlyfsTer2)
c.*4033del (n.*4033del)
c.544del
c.941del (p.Val314GlyfsTer2)
c.563del (p.Val188GlyfsTer2)
c.566del (p.Val189GlyfsTer2)
c.5-18560del (n.5-18560del)
c.-43-7990del (n.-43-7990del)
c.-98-32321del (n.-98-32321del)
n.144del
n.4386del
n.4427del
 ClinVar dbSNP
17g.43082511A>CCA10593218BRCA1c.4250T>G (p.Val1417Gly)
c.4124T>G (p.Val1375Gly)
c.4244T>G (p.Val1415Gly)
c.4172T>G (p.Val1391Gly)
c.938T>G (p.Val313Gly)
c.800T>G (p.Val267Gly)
c.3362T>G (p.Val1121Gly)
c.4127T>G (p.Val1376Gly)
c.4109T>G (p.Val1370Gly)
c.815T>G (p.Val272Gly)
c.860T>G (p.Val287Gly)
c.571T>G
c.824T>G (p.Val275Gly)
c.*4033T>G (n.*4033T>G)
c.544T>G
c.941T>G (p.Val314Gly)
c.563T>G (p.Val188Gly)
c.566T>G (p.Val189Gly)
c.5-18560T>G (n.5-18560T>G)
c.-43-7990T>G (n.-43-7990T>G)
c.-98-32321T>G (n.-98-32321T>G)
n.144T>G
n.4386T>G
n.4427T>G
 dbSNP
17g.43082511A>GCA10593219BRCA1c.4250T>C (p.Val1417Ala)
c.4124T>C (p.Val1375Ala)
c.4244T>C (p.Val1415Ala)
c.4172T>C (p.Val1391Ala)
c.938T>C (p.Val313Ala)
c.800T>C (p.Val267Ala)
c.3362T>C (p.Val1121Ala)
c.4127T>C (p.Val1376Ala)
c.4109T>C (p.Val1370Ala)
c.815T>C (p.Val272Ala)
c.860T>C (p.Val287Ala)
c.571T>C
c.824T>C (p.Val275Ala)
c.*4033T>C (n.*4033T>C)
c.544T>C
c.941T>C (p.Val314Ala)
c.563T>C (p.Val188Ala)
c.566T>C (p.Val189Ala)
c.5-18560T>C (n.5-18560T>C)
c.-43-7990T>C (n.-43-7990T>C)
c.-98-32321T>C (n.-98-32321T>C)
n.144T>C
n.4386T>C
n.4427T>C
 dbSNP
17g.43082511A>TCA10593220BRCA1c.4250T>A (p.Val1417Glu)
c.4124T>A (p.Val1375Glu)
c.4244T>A (p.Val1415Glu)
c.4172T>A (p.Val1391Glu)
c.938T>A (p.Val313Glu)
c.800T>A (p.Val267Glu)
c.3362T>A (p.Val1121Glu)
c.4127T>A (p.Val1376Glu)
c.4109T>A (p.Val1370Glu)
c.815T>A (p.Val272Glu)
c.860T>A (p.Val287Glu)
c.571T>A
c.824T>A (p.Val275Glu)
c.*4033T>A (n.*4033T>A)
c.544T>A
c.941T>A (p.Val314Glu)
c.563T>A (p.Val188Glu)
c.566T>A (p.Val189Glu)
c.5-18560T>A (n.5-18560T>A)
c.-43-7990T>A (n.-43-7990T>A)
c.-98-32321T>A (n.-98-32321T>A)
n.144T>A
n.4386T>A
n.4427T>A
 dbSNP
17g.43082512C>ACA10593221BRCA1c.4249G>T (p.Val1417Leu)
c.4123G>T (p.Val1375Leu)
c.4243G>T (p.Val1415Leu)
c.4171G>T (p.Val1391Leu)
c.937G>T (p.Val313Leu)
c.799G>T (p.Val267Leu)
c.3361G>T (p.Val1121Leu)
c.4126G>T (p.Val1376Leu)
c.4108G>T (p.Val1370Leu)
c.814G>T (p.Val272Leu)
c.859G>T (p.Val287Leu)
c.570G>T
c.823G>T (p.Val275Leu)
c.*4032G>T (n.*4032G>T)
c.543G>T
c.940G>T (p.Val314Leu)
c.562G>T (p.Val188Leu)
c.565G>T (p.Val189Leu)
c.5-18561G>T (n.5-18561G>T)
c.-43-7991G>T (n.-43-7991G>T)
c.-98-32322G>T (n.-98-32322G>T)
n.143G>T
n.4385G>T
n.4426G>T
 ClinVar dbSNP
17g.43082512C=CA2260778035BRCA1c.4249G= (p.Val1417=)
c.4123G= (p.Val1375=)
c.4243G= (p.Val1415=)
c.4171G= (p.Val1391=)
c.937G= (p.Val313=)
c.799G= (p.Val267=)
c.3361G= (p.Val1121=)
c.4126G= (p.Val1376=)
c.4108G= (p.Val1370=)
c.814G= (p.Val272=)
c.859G= (p.Val287=)
c.570G=
c.823G= (p.Val275=)
c.*4032G= (n.*4032G=)
c.543G=
c.940G= (p.Val314=)
c.562G= (p.Val188=)
c.565G= (p.Val189=)
c.5-18561G= (n.5-18561G=)
c.-43-7991G= (n.-43-7991G=)
c.-98-32322G= (n.-98-32322G=)
n.143G=
n.4385G=
n.4426G=
17g.43082512C>GCA10593222BRCA1c.4249G>C (p.Val1417Leu)
c.4123G>C (p.Val1375Leu)
c.4243G>C (p.Val1415Leu)
c.4171G>C (p.Val1391Leu)
c.937G>C (p.Val313Leu)
c.799G>C (p.Val267Leu)
c.3361G>C (p.Val1121Leu)
c.4126G>C (p.Val1376Leu)
c.4108G>C (p.Val1370Leu)
c.814G>C (p.Val272Leu)
c.859G>C (p.Val287Leu)
c.570G>C
c.823G>C (p.Val275Leu)
c.*4032G>C (n.*4032G>C)
c.543G>C
c.940G>C (p.Val314Leu)
c.562G>C (p.Val188Leu)
c.565G>C (p.Val189Leu)
c.5-18561G>C (n.5-18561G>C)
c.-43-7991G>C (n.-43-7991G>C)
c.-98-32322G>C (n.-98-32322G>C)
n.143G>C
n.4385G>C
n.4426G>C
 dbSNP
17g.43082512C>TCA10593223BRCA1c.4249G>A (p.Val1417Met)
c.4123G>A (p.Val1375Met)
c.4243G>A (p.Val1415Met)
c.4171G>A (p.Val1391Met)
c.937G>A (p.Val313Met)
c.799G>A (p.Val267Met)
c.3361G>A (p.Val1121Met)
c.4126G>A (p.Val1376Met)
c.4108G>A (p.Val1370Met)
c.814G>A (p.Val272Met)
c.859G>A (p.Val287Met)
c.570G>A
c.823G>A (p.Val275Met)
c.*4032G>A (n.*4032G>A)
c.543G>A
c.940G>A (p.Val314Met)
c.562G>A (p.Val188Met)
c.565G>A (p.Val189Met)
c.5-18561G>A (n.5-18561G>A)
c.-43-7991G>A (n.-43-7991G>A)
c.-98-32322G>A (n.-98-32322G>A)
n.143G>A
n.4385G>A
n.4426G>A
 ClinVar dbSNP
17g.43082513A>CCA500148407BRCA1c.4248T>G (p.Ala1416=)
c.4122T>G (p.Ala1374=)
c.4242T>G (p.Ala1414=)
c.4170T>G (p.Ala1390=)
c.936T>G (p.Ala312=)
c.798T>G (p.Ala266=)
c.3360T>G (p.Ala1120=)
c.4125T>G (p.Ala1375=)
c.4107T>G (p.Ala1369=)
c.813T>G (p.Ala271=)
c.858T>G (p.Ala286=)
c.569T>G
c.822T>G (p.Ala274=)
c.*4031T>G (n.*4031T>G)
c.542T>G
c.939T>G (p.Ala313=)
c.561T>G (p.Ala187=)
c.564T>G (p.Ala188=)
c.5-18562T>G (n.5-18562T>G)
c.-43-7992T>G (n.-43-7992T>G)
c.-98-32323T>G (n.-98-32323T>G)
n.142T>G
n.4384T>G
n.4425T>G
17g.43082513A>GCA500148408BRCA1c.4248T>C (p.Ala1416=)
c.4122T>C (p.Ala1374=)
c.4242T>C (p.Ala1414=)
c.4170T>C (p.Ala1390=)
c.936T>C (p.Ala312=)
c.798T>C (p.Ala266=)
c.3360T>C (p.Ala1120=)
c.4125T>C (p.Ala1375=)
c.4107T>C (p.Ala1369=)
c.813T>C (p.Ala271=)
c.858T>C (p.Ala286=)
c.569T>C
c.822T>C (p.Ala274=)
c.*4031T>C (n.*4031T>C)
c.542T>C
c.939T>C (p.Ala313=)
c.561T>C (p.Ala187=)
c.564T>C (p.Ala188=)
c.5-18562T>C (n.5-18562T>C)
c.-43-7992T>C (n.-43-7992T>C)
c.-98-32323T>C (n.-98-32323T>C)
n.142T>C
n.4384T>C
n.4425T>C
 ClinVar dbSNP
17g.43082513A>TCA500148409BRCA1c.4248T>A (p.Ala1416=)
c.4122T>A (p.Ala1374=)
c.4242T>A (p.Ala1414=)
c.4170T>A (p.Ala1390=)
c.936T>A (p.Ala312=)
c.798T>A (p.Ala266=)
c.3360T>A (p.Ala1120=)
c.4125T>A (p.Ala1375=)
c.4107T>A (p.Ala1369=)
c.813T>A (p.Ala271=)
c.858T>A (p.Ala286=)
c.569T>A
c.822T>A (p.Ala274=)
c.*4031T>A (n.*4031T>A)
c.542T>A
c.939T>A (p.Ala313=)
c.561T>A (p.Ala187=)
c.564T>A (p.Ala188=)
c.5-18562T>A (n.5-18562T>A)
c.-43-7992T>A (n.-43-7992T>A)
c.-98-32323T>A (n.-98-32323T>A)
n.142T>A
n.4384T>A
n.4425T>A
 dbSNP
17g.43082514G>ACA10593224BRCA1c.4247C>T (p.Ala1416Val)
c.4121C>T (p.Ala1374Val)
c.4241C>T (p.Ala1414Val)
c.4169C>T (p.Ala1390Val)
c.935C>T (p.Ala312Val)
c.797C>T (p.Ala266Val)
c.3359C>T (p.Ala1120Val)
c.4124C>T (p.Ala1375Val)
c.4106C>T (p.Ala1369Val)
c.812C>T (p.Ala271Val)
c.857C>T (p.Ala286Val)
c.568C>T
c.821C>T (p.Ala274Val)
c.*4030C>T (n.*4030C>T)
c.541C>T
c.938C>T (p.Ala313Val)
c.560C>T (p.Ala187Val)
c.563C>T (p.Ala188Val)
c.5-18563C>T (n.5-18563C>T)
c.-43-7993C>T (n.-43-7993C>T)
c.-98-32324C>T (n.-98-32324C>T)
n.141C>T
n.4383C>T
n.4424C>T
 dbSNP
17g.43082514G>CCA10593225BRCA1c.4247C>G (p.Ala1416Gly)
c.4121C>G (p.Ala1374Gly)
c.4241C>G (p.Ala1414Gly)
c.4169C>G (p.Ala1390Gly)
c.935C>G (p.Ala312Gly)
c.797C>G (p.Ala266Gly)
c.3359C>G (p.Ala1120Gly)
c.4124C>G (p.Ala1375Gly)
c.4106C>G (p.Ala1369Gly)
c.812C>G (p.Ala271Gly)
c.857C>G (p.Ala286Gly)
c.568C>G
c.821C>G (p.Ala274Gly)
c.*4030C>G (n.*4030C>G)
c.541C>G
c.938C>G (p.Ala313Gly)
c.560C>G (p.Ala187Gly)
c.563C>G (p.Ala188Gly)
c.5-18563C>G (n.5-18563C>G)
c.-43-7993C>G (n.-43-7993C>G)
c.-98-32324C>G (n.-98-32324C>G)
n.141C>G
n.4383C>G
n.4424C>G
 ClinVar dbSNP
17g.43082514G=CA2260778036BRCA1c.4247C= (p.Ala1416=)
c.4121C= (p.Ala1374=)
c.4241C= (p.Ala1414=)
c.4169C= (p.Ala1390=)
c.935C= (p.Ala312=)
c.797C= (p.Ala266=)
c.3359C= (p.Ala1120=)
c.4124C= (p.Ala1375=)
c.4106C= (p.Ala1369=)
c.812C= (p.Ala271=)
c.857C= (p.Ala286=)
c.568C=
c.821C= (p.Ala274=)
c.*4030C= (n.*4030C=)
c.541C=
c.938C= (p.Ala313=)
c.560C= (p.Ala187=)
c.563C= (p.Ala188=)
c.5-18563C= (n.5-18563C=)
c.-43-7993C= (n.-43-7993C=)
c.-98-32324C= (n.-98-32324C=)
n.141C=
n.4383C=
n.4424C=
17g.43082514G>TCA10593226BRCA1c.4247C>A (p.Ala1416Asp)
c.4121C>A (p.Ala1374Asp)
c.4241C>A (p.Ala1414Asp)
c.4169C>A (p.Ala1390Asp)
c.935C>A (p.Ala312Asp)
c.797C>A (p.Ala266Asp)
c.3359C>A (p.Ala1120Asp)
c.4124C>A (p.Ala1375Asp)
c.4106C>A (p.Ala1369Asp)
c.812C>A (p.Ala271Asp)
c.857C>A (p.Ala286Asp)
c.568C>A
c.821C>A (p.Ala274Asp)
c.*4030C>A (n.*4030C>A)
c.541C>A
c.938C>A (p.Ala313Asp)
c.560C>A (p.Ala187Asp)
c.563C>A (p.Ala188Asp)
c.5-18563C>A (n.5-18563C>A)
c.-43-7993C>A (n.-43-7993C>A)
c.-98-32324C>A (n.-98-32324C>A)
n.141C>A
n.4383C>A
n.4424C>A
17g.43082515C>ACA10593227BRCA1c.4246G>T (p.Ala1416Ser)
c.4120G>T (p.Ala1374Ser)
c.4240G>T (p.Ala1414Ser)
c.4168G>T (p.Ala1390Ser)
c.934G>T (p.Ala312Ser)
c.796G>T (p.Ala266Ser)
c.3358G>T (p.Ala1120Ser)
c.4123G>T (p.Ala1375Ser)
c.4105G>T (p.Ala1369Ser)
c.811G>T (p.Ala271Ser)
c.856G>T (p.Ala286Ser)
c.567G>T
c.820G>T (p.Ala274Ser)
c.*4029G>T (n.*4029G>T)
c.540G>T
c.937G>T (p.Ala313Ser)
c.559G>T (p.Ala187Ser)
c.562G>T (p.Ala188Ser)
c.5-18564G>T (n.5-18564G>T)
c.-43-7994G>T (n.-43-7994G>T)
c.-98-32325G>T (n.-98-32325G>T)
n.140G>T
n.4382G>T
n.4423G>T
 dbSNP
17g.43082515C=CA2260778037BRCA1c.4246G= (p.Ala1416=)
c.4120G= (p.Ala1374=)
c.4240G= (p.Ala1414=)
c.4168G= (p.Ala1390=)
c.934G= (p.Ala312=)
c.796G= (p.Ala266=)
c.3358G= (p.Ala1120=)
c.4123G= (p.Ala1375=)
c.4105G= (p.Ala1369=)
c.811G= (p.Ala271=)
c.856G= (p.Ala286=)
c.567G=
c.820G= (p.Ala274=)
c.*4029G= (n.*4029G=)
c.540G=
c.937G= (p.Ala313=)
c.559G= (p.Ala187=)
c.562G= (p.Ala188=)
c.5-18564G= (n.5-18564G=)
c.-43-7994G= (n.-43-7994G=)
c.-98-32325G= (n.-98-32325G=)
n.140G=
n.4382G=
n.4423G=
17g.43082515C>GCA10593228BRCA1c.4246G>C (p.Ala1416Pro)
c.4120G>C (p.Ala1374Pro)
c.4240G>C (p.Ala1414Pro)
c.4168G>C (p.Ala1390Pro)
c.934G>C (p.Ala312Pro)
c.796G>C (p.Ala266Pro)
c.3358G>C (p.Ala1120Pro)
c.4123G>C (p.Ala1375Pro)
c.4105G>C (p.Ala1369Pro)
c.811G>C (p.Ala271Pro)
c.856G>C (p.Ala286Pro)
c.567G>C
c.820G>C (p.Ala274Pro)
c.*4029G>C (n.*4029G>C)
c.540G>C
c.937G>C (p.Ala313Pro)
c.559G>C (p.Ala187Pro)
c.562G>C (p.Ala188Pro)
c.5-18564G>C (n.5-18564G>C)
c.-43-7994G>C (n.-43-7994G>C)
c.-98-32325G>C (n.-98-32325G>C)
n.140G>C
n.4382G>C
n.4423G>C
 dbSNP

Number of alleles fetched