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.43082494T>ACA10593188BRCA1c.4267A>T (p.Ser1423Cys)
c.4141A>T (p.Ser1381Cys)
c.4261A>T (p.Ser1421Cys)
c.4189A>T (p.Ser1397Cys)
c.955A>T (p.Ser319Cys)
c.817A>T (p.Ser273Cys)
c.3379A>T (p.Ser1127Cys)
c.4144A>T (p.Ser1382Cys)
c.4126A>T (p.Ser1376Cys)
c.832A>T (p.Ser278Cys)
c.877A>T (p.Ser293Cys)
c.588A>T
c.841A>T (p.Ser281Cys)
c.*4050A>T (n.*4050A>T)
c.561A>T
c.958A>T (p.Ser320Cys)
c.580A>T (p.Ser194Cys)
c.583A>T (p.Ser195Cys)
c.5-18543A>T (n.5-18543A>T)
c.-43-7973A>T (n.-43-7973A>T)
c.-98-32304A>T (n.-98-32304A>T)
n.161A>T
n.4403A>T
n.4444A>T
17g.43082494T>CCA10593189BRCA1c.4267A>G (p.Ser1423Gly)
c.4141A>G (p.Ser1381Gly)
c.4261A>G (p.Ser1421Gly)
c.4189A>G (p.Ser1397Gly)
c.955A>G (p.Ser319Gly)
c.817A>G (p.Ser273Gly)
c.3379A>G (p.Ser1127Gly)
c.4144A>G (p.Ser1382Gly)
c.4126A>G (p.Ser1376Gly)
c.832A>G (p.Ser278Gly)
c.877A>G (p.Ser293Gly)
c.588A>G
c.841A>G (p.Ser281Gly)
c.*4050A>G (n.*4050A>G)
c.561A>G
c.958A>G (p.Ser320Gly)
c.580A>G (p.Ser194Gly)
c.583A>G (p.Ser195Gly)
c.5-18543A>G (n.5-18543A>G)
c.-43-7973A>G (n.-43-7973A>G)
c.-98-32304A>G (n.-98-32304A>G)
n.161A>G
n.4403A>G
n.4444A>G
17g.43082494T>GCA10593190BRCA1c.4267A>C (p.Ser1423Arg)
c.4141A>C (p.Ser1381Arg)
c.4261A>C (p.Ser1421Arg)
c.4189A>C (p.Ser1397Arg)
c.955A>C (p.Ser319Arg)
c.817A>C (p.Ser273Arg)
c.3379A>C (p.Ser1127Arg)
c.4144A>C (p.Ser1382Arg)
c.4126A>C (p.Ser1376Arg)
c.832A>C (p.Ser278Arg)
c.877A>C (p.Ser293Arg)
c.588A>C
c.841A>C (p.Ser281Arg)
c.*4050A>C (n.*4050A>C)
c.561A>C
c.958A>C (p.Ser320Arg)
c.580A>C (p.Ser194Arg)
c.583A>C (p.Ser195Arg)
c.5-18543A>C (n.5-18543A>C)
c.-43-7973A>C (n.-43-7973A>C)
c.-98-32304A>C (n.-98-32304A>C)
n.161A>C
n.4403A>C
n.4444A>C
17g.43082494_43082495delinsTCCA2260778021BRCA1c.4266_4267delinsGA (p.Gly1422=)
c.4140_4141delinsGA (p.Gly1380=)
c.4260_4261delinsGA (p.Gly1420=)
c.4188_4189delinsGA (p.Gly1396=)
c.954_955delinsGA (p.Gly318=)
c.816_817delinsGA (p.Gly272=)
c.3378_3379delinsGA (p.Gly1126=)
c.4143_4144delinsGA (p.Gly1381=)
c.4125_4126delinsGA (p.Gly1375=)
c.831_832delinsGA (p.Gly277=)
c.876_877delinsGA (p.Gly292=)
c.587_588delinsGA
c.840_841delinsGA (p.Gly280=)
c.*4049_*4050delinsGA (n.*4049_*4050delinsGA)
c.560_561delinsGA
c.957_958delinsGA (p.Gly319=)
c.579_580delinsGA (p.Gly193=)
c.582_583delinsGA (p.Gly194=)
c.5-18544_5-18543delinsGA (n.5-18544_5-18543delinsGA)
c.-43-7974_-43-7973delinsGA (n.-43-7974_-43-7973delinsGA)
c.-98-32305_-98-32304delinsGA (n.-98-32305_-98-32304delinsGA)
n.160_161delinsGA
n.4402_4403delinsGA
n.4443_4444delinsGA
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.43082495C>ACA500148397BRCA1c.4266G>T (p.Gly1422=)
c.4140G>T (p.Gly1380=)
c.4260G>T (p.Gly1420=)
c.4188G>T (p.Gly1396=)
c.954G>T (p.Gly318=)
c.816G>T (p.Gly272=)
c.3378G>T (p.Gly1126=)
c.4143G>T (p.Gly1381=)
c.4125G>T (p.Gly1375=)
c.831G>T (p.Gly277=)
c.876G>T (p.Gly292=)
c.587G>T
c.840G>T (p.Gly280=)
c.*4049G>T (n.*4049G>T)
c.560G>T
c.957G>T (p.Gly319=)
c.579G>T (p.Gly193=)
c.582G>T (p.Gly194=)
c.5-18544G>T (n.5-18544G>T)
c.-43-7974G>T (n.-43-7974G>T)
c.-98-32305G>T (n.-98-32305G>T)
n.160G>T
n.4402G>T
n.4443G>T
 ClinVar
17g.43082495C=CA2260778022BRCA1c.4266G= (p.Gly1422=)
c.4140G= (p.Gly1380=)
c.4260G= (p.Gly1420=)
c.4188G= (p.Gly1396=)
c.954G= (p.Gly318=)
c.816G= (p.Gly272=)
c.3378G= (p.Gly1126=)
c.4143G= (p.Gly1381=)
c.4125G= (p.Gly1375=)
c.831G= (p.Gly277=)
c.876G= (p.Gly292=)
c.587G=
c.840G= (p.Gly280=)
c.*4049G= (n.*4049G=)
c.560G=
c.957G= (p.Gly319=)
c.579G= (p.Gly193=)
c.582G= (p.Gly194=)
c.5-18544G= (n.5-18544G=)
c.-43-7974G= (n.-43-7974G=)
c.-98-32305G= (n.-98-32305G=)
n.160G=
n.4402G=
n.4443G=
17g.43082495C>GCA500148398BRCA1c.4266G>C (p.Gly1422=)
c.4140G>C (p.Gly1380=)
c.4260G>C (p.Gly1420=)
c.4188G>C (p.Gly1396=)
c.954G>C (p.Gly318=)
c.816G>C (p.Gly272=)
c.3378G>C (p.Gly1126=)
c.4143G>C (p.Gly1381=)
c.4125G>C (p.Gly1375=)
c.831G>C (p.Gly277=)
c.876G>C (p.Gly292=)
c.587G>C
c.840G>C (p.Gly280=)
c.*4049G>C (n.*4049G>C)
c.560G>C
c.957G>C (p.Gly319=)
c.579G>C (p.Gly193=)
c.582G>C (p.Gly194=)
c.5-18544G>C (n.5-18544G>C)
c.-43-7974G>C (n.-43-7974G>C)
c.-98-32305G>C (n.-98-32305G>C)
n.160G>C
n.4402G>C
n.4443G>C
 dbSNP
17g.43082495C>TCA500148399BRCA1c.4266G>A (p.Gly1422=)
c.4140G>A (p.Gly1380=)
c.4260G>A (p.Gly1420=)
c.4188G>A (p.Gly1396=)
c.954G>A (p.Gly318=)
c.816G>A (p.Gly272=)
c.3378G>A (p.Gly1126=)
c.4143G>A (p.Gly1381=)
c.4125G>A (p.Gly1375=)
c.831G>A (p.Gly277=)
c.876G>A (p.Gly292=)
c.587G>A
c.840G>A (p.Gly280=)
c.*4049G>A (n.*4049G>A)
c.560G>A
c.957G>A (p.Gly319=)
c.579G>A (p.Gly193=)
c.582G>A (p.Gly194=)
c.5-18544G>A (n.5-18544G>A)
c.-43-7974G>A (n.-43-7974G>A)
c.-98-32305G>A (n.-98-32305G>A)
n.160G>A
n.4402G>A
n.4443G>A
 ClinVar dbSNP
17g.43082495_43082496delinsAACA645578310BRCA1c.4265_4266delinsTT (p.Gly1422Val)
c.4139_4140delinsTT (p.Gly1380Val)
c.4259_4260delinsTT (p.Gly1420Val)
c.4187_4188delinsTT (p.Gly1396Val)
c.953_954delinsTT (p.Gly318Val)
c.815_816delinsTT (p.Gly272Val)
c.3377_3378delinsTT (p.Gly1126Val)
c.4142_4143delinsTT (p.Gly1381Val)
c.4124_4125delinsTT (p.Gly1375Val)
c.830_831delinsTT (p.Gly277Val)
c.875_876delinsTT (p.Gly292Val)
c.586_587delinsTT
c.839_840delinsTT (p.Gly280Val)
c.*4048_*4049delinsTT (n.*4048_*4049delinsTT)
c.559_560delinsTT
c.956_957delinsTT (p.Gly319Val)
c.578_579delinsTT (p.Gly193Val)
c.581_582delinsTT (p.Gly194Val)
c.5-18545_5-18544delinsTT (n.5-18545_5-18544delinsTT)
c.-43-7975_-43-7974delinsTT (n.-43-7975_-43-7974delinsTT)
c.-98-32306_-98-32305delinsTT (n.-98-32306_-98-32305delinsTT)
n.159_160delinsTT
n.4401_4402delinsTT
n.4442_4443delinsTT
 COSMIC COSMIC
17g.43082497dupCA327926BRCA1c.4266dup (p.Ser1423GlufsTer5)
c.4140dup (p.Ser1381GlufsTer5)
c.4260dup (p.Ser1421GlufsTer5)
c.4188dup (p.Ser1397GlufsTer5)
c.954dup (p.Ser319GlufsTer5)
c.816dup (p.Ser273GlufsTer5)
c.3378dup (p.Ser1127GlufsTer5)
c.4143dup (p.Ser1382GlufsTer5)
c.4125dup (p.Ser1376GlufsTer5)
c.831dup (p.Ser278GlufsTer5)
c.876dup (p.Ser293GlufsTer5)
c.587dup
c.840dup (p.Ser281GlufsTer5)
c.*4049dup (n.*4049dup)
c.560dup
c.957dup (p.Ser320GlufsTer5)
c.579dup (p.Ser194GlufsTer5)
c.582dup (p.Ser195GlufsTer5)
c.5-18544dup (n.5-18544dup)
c.-43-7974dup (n.-43-7974dup)
c.-98-32305dup (n.-98-32305dup)
n.160dup
n.4402dup
n.4443dup
 ClinVar dbSNP
17g.43082497delCA658825020BRCA1c.4266del (p.Ser1423AlafsTer11)
c.4140del (p.Ser1381AlafsTer11)
c.4260del (p.Ser1421AlafsTer11)
c.4188del (p.Ser1397AlafsTer11)
c.954del (p.Ser319AlafsTer11)
c.816del (p.Ser273AlafsTer11)
c.3378del (p.Ser1127AlafsTer11)
c.4143del (p.Ser1382AlafsTer11)
c.4125del (p.Ser1376AlafsTer11)
c.831del (p.Ser278AlafsTer11)
c.876del (p.Ser293AlafsTer11)
c.587del
c.840del (p.Ser281AlafsTer11)
c.*4049del (n.*4049del)
c.560del
c.957del (p.Ser320AlafsTer11)
c.579del (p.Ser194AlafsTer11)
c.582del (p.Ser195AlafsTer11)
c.5-18544del (n.5-18544del)
c.-43-7974del (n.-43-7974del)
c.-98-32305del (n.-98-32305del)
n.160del
n.4402del
n.4443del
 ClinVar dbSNP
17g.43082496C>ACA10593191BRCA1c.4265G>T (p.Gly1422Val)
c.4139G>T (p.Gly1380Val)
c.4259G>T (p.Gly1420Val)
c.4187G>T (p.Gly1396Val)
c.953G>T (p.Gly318Val)
c.815G>T (p.Gly272Val)
c.3377G>T (p.Gly1126Val)
c.4142G>T (p.Gly1381Val)
c.4124G>T (p.Gly1375Val)
c.830G>T (p.Gly277Val)
c.875G>T (p.Gly292Val)
c.586G>T
c.839G>T (p.Gly280Val)
c.*4048G>T (n.*4048G>T)
c.559G>T
c.956G>T (p.Gly319Val)
c.578G>T (p.Gly193Val)
c.581G>T (p.Gly194Val)
c.5-18545G>T (n.5-18545G>T)
c.-43-7975G>T (n.-43-7975G>T)
c.-98-32306G>T (n.-98-32306G>T)
n.159G>T
n.4401G>T
n.4442G>T
 dbSNP
17g.43082496C=CA2260778023BRCA1c.4265G= (p.Gly1422=)
c.4139G= (p.Gly1380=)
c.4259G= (p.Gly1420=)
c.4187G= (p.Gly1396=)
c.953G= (p.Gly318=)
c.815G= (p.Gly272=)
c.3377G= (p.Gly1126=)
c.4142G= (p.Gly1381=)
c.4124G= (p.Gly1375=)
c.830G= (p.Gly277=)
c.875G= (p.Gly292=)
c.586G=
c.839G= (p.Gly280=)
c.*4048G= (n.*4048G=)
c.559G=
c.956G= (p.Gly319=)
c.578G= (p.Gly193=)
c.581G= (p.Gly194=)
c.5-18545G= (n.5-18545G=)
c.-43-7975G= (n.-43-7975G=)
c.-98-32306G= (n.-98-32306G=)
n.159G=
n.4401G=
n.4442G=
17g.43082496C>GCA10593192BRCA1c.4265G>C (p.Gly1422Ala)
c.4139G>C (p.Gly1380Ala)
c.4259G>C (p.Gly1420Ala)
c.4187G>C (p.Gly1396Ala)
c.953G>C (p.Gly318Ala)
c.815G>C (p.Gly272Ala)
c.3377G>C (p.Gly1126Ala)
c.4142G>C (p.Gly1381Ala)
c.4124G>C (p.Gly1375Ala)
c.830G>C (p.Gly277Ala)
c.875G>C (p.Gly292Ala)
c.586G>C
c.839G>C (p.Gly280Ala)
c.*4048G>C (n.*4048G>C)
c.559G>C
c.956G>C (p.Gly319Ala)
c.578G>C (p.Gly193Ala)
c.581G>C (p.Gly194Ala)
c.5-18545G>C (n.5-18545G>C)
c.-43-7975G>C (n.-43-7975G>C)
c.-98-32306G>C (n.-98-32306G>C)
n.159G>C
n.4401G>C
n.4442G>C
 dbSNP
17g.43082496C>TCA059798BRCA1c.4265G>A (p.Gly1422Glu)
c.4139G>A (p.Gly1380Glu)
c.4259G>A (p.Gly1420Glu)
c.4187G>A (p.Gly1396Glu)
c.953G>A (p.Gly318Glu)
c.815G>A (p.Gly272Glu)
c.3377G>A (p.Gly1126Glu)
c.4142G>A (p.Gly1381Glu)
c.4124G>A (p.Gly1375Glu)
c.830G>A (p.Gly277Glu)
c.875G>A (p.Gly292Glu)
c.586G>A
c.839G>A (p.Gly280Glu)
c.*4048G>A (n.*4048G>A)
c.559G>A
c.956G>A (p.Gly319Glu)
c.578G>A (p.Gly193Glu)
c.581G>A (p.Gly194Glu)
c.5-18545G>A (n.5-18545G>A)
c.-43-7975G>A (n.-43-7975G>A)
c.-98-32306G>A (n.-98-32306G>A)
n.159G>A
n.4401G>A
n.4442G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082497C>ACA10593193BRCA1c.4264G>T (p.Gly1422Trp)
c.4138G>T (p.Gly1380Trp)
c.4258G>T (p.Gly1420Trp)
c.4186G>T (p.Gly1396Trp)
c.952G>T (p.Gly318Trp)
c.814G>T (p.Gly272Trp)
c.3376G>T (p.Gly1126Trp)
c.4141G>T (p.Gly1381Trp)
c.4123G>T (p.Gly1375Trp)
c.829G>T (p.Gly277Trp)
c.874G>T (p.Gly292Trp)
c.585G>T
c.838G>T (p.Gly280Trp)
c.*4047G>T (n.*4047G>T)
c.558G>T
c.955G>T (p.Gly319Trp)
c.577G>T (p.Gly193Trp)
c.580G>T (p.Gly194Trp)
c.5-18546G>T (n.5-18546G>T)
c.-43-7976G>T (n.-43-7976G>T)
c.-98-32307G>T (n.-98-32307G>T)
n.158G>T
n.4400G>T
n.4441G>T
 dbSNP
17g.43082497C>GCA10593194BRCA1c.4264G>C (p.Gly1422Arg)
c.4138G>C (p.Gly1380Arg)
c.4258G>C (p.Gly1420Arg)
c.4186G>C (p.Gly1396Arg)
c.952G>C (p.Gly318Arg)
c.814G>C (p.Gly272Arg)
c.3376G>C (p.Gly1126Arg)
c.4141G>C (p.Gly1381Arg)
c.4123G>C (p.Gly1375Arg)
c.829G>C (p.Gly277Arg)
c.874G>C (p.Gly292Arg)
c.585G>C
c.838G>C (p.Gly280Arg)
c.*4047G>C (n.*4047G>C)
c.558G>C
c.955G>C (p.Gly319Arg)
c.577G>C (p.Gly193Arg)
c.580G>C (p.Gly194Arg)
c.5-18546G>C (n.5-18546G>C)
c.-43-7976G>C (n.-43-7976G>C)
c.-98-32307G>C (n.-98-32307G>C)
n.158G>C
n.4400G>C
n.4441G>C
17g.43082497C>TCA10593195BRCA1c.4264G>A (p.Gly1422Arg)
c.4138G>A (p.Gly1380Arg)
c.4258G>A (p.Gly1420Arg)
c.4186G>A (p.Gly1396Arg)
c.952G>A (p.Gly318Arg)
c.814G>A (p.Gly272Arg)
c.3376G>A (p.Gly1126Arg)
c.4141G>A (p.Gly1381Arg)
c.4123G>A (p.Gly1375Arg)
c.829G>A (p.Gly277Arg)
c.874G>A (p.Gly292Arg)
c.585G>A
c.838G>A (p.Gly280Arg)
c.*4047G>A (n.*4047G>A)
c.558G>A
c.955G>A (p.Gly319Arg)
c.577G>A (p.Gly193Arg)
c.580G>A (p.Gly194Arg)
c.5-18546G>A (n.5-18546G>A)
c.-43-7976G>A (n.-43-7976G>A)
c.-98-32307G>A (n.-98-32307G>A)
n.158G>A
n.4400G>A
n.4441G>A
 dbSNP
17g.43082498A=CA2260778024BRCA1c.4263T= (p.His1421=)
c.4137T= (p.His1379=)
c.4257T= (p.His1419=)
c.4185T= (p.His1395=)
c.951T= (p.His317=)
c.813T= (p.His271=)
c.3375T= (p.His1125=)
c.4140T= (p.His1380=)
c.4122T= (p.His1374=)
c.828T= (p.His276=)
c.873T= (p.His291=)
c.584T=
c.837T= (p.His279=)
c.*4046T= (n.*4046T=)
c.557T=
c.954T= (p.His318=)
c.576T= (p.His192=)
c.579T= (p.His193=)
c.5-18547T= (n.5-18547T=)
c.-43-7977T= (n.-43-7977T=)
c.-98-32308T= (n.-98-32308T=)
n.157T=
n.4399T=
n.4440T=
17g.43082498A>CCA10593196BRCA1c.4263T>G (p.His1421Gln)
c.4137T>G (p.His1379Gln)
c.4257T>G (p.His1419Gln)
c.4185T>G (p.His1395Gln)
c.951T>G (p.His317Gln)
c.813T>G (p.His271Gln)
c.3375T>G (p.His1125Gln)
c.4140T>G (p.His1380Gln)
c.4122T>G (p.His1374Gln)
c.828T>G (p.His276Gln)
c.873T>G (p.His291Gln)
c.584T>G
c.837T>G (p.His279Gln)
c.*4046T>G (n.*4046T>G)
c.557T>G
c.954T>G (p.His318Gln)
c.576T>G (p.His192Gln)
c.579T>G (p.His193Gln)
c.5-18547T>G (n.5-18547T>G)
c.-43-7977T>G (n.-43-7977T>G)
c.-98-32308T>G (n.-98-32308T>G)
n.157T>G
n.4399T>G
n.4440T>G
17g.43082498A>GCA500148400BRCA1c.4263T>C (p.His1421=)
c.4137T>C (p.His1379=)
c.4257T>C (p.His1419=)
c.4185T>C (p.His1395=)
c.951T>C (p.His317=)
c.813T>C (p.His271=)
c.3375T>C (p.His1125=)
c.4140T>C (p.His1380=)
c.4122T>C (p.His1374=)
c.828T>C (p.His276=)
c.873T>C (p.His291=)
c.584T>C
c.837T>C (p.His279=)
c.*4046T>C (n.*4046T>C)
c.557T>C
c.954T>C (p.His318=)
c.576T>C (p.His192=)
c.579T>C (p.His193=)
c.5-18547T>C (n.5-18547T>C)
c.-43-7977T>C (n.-43-7977T>C)
c.-98-32308T>C (n.-98-32308T>C)
n.157T>C
n.4399T>C
n.4440T>C
 ClinVar dbSNP
17g.43082498A>TCA10593197BRCA1c.4263T>A (p.His1421Gln)
c.4137T>A (p.His1379Gln)
c.4257T>A (p.His1419Gln)
c.4185T>A (p.His1395Gln)
c.951T>A (p.His317Gln)
c.813T>A (p.His271Gln)
c.3375T>A (p.His1125Gln)
c.4140T>A (p.His1380Gln)
c.4122T>A (p.His1374Gln)
c.828T>A (p.His276Gln)
c.873T>A (p.His291Gln)
c.584T>A
c.837T>A (p.His279Gln)
c.*4046T>A (n.*4046T>A)
c.557T>A
c.954T>A (p.His318Gln)
c.576T>A (p.His192Gln)
c.579T>A (p.His193Gln)
c.5-18547T>A (n.5-18547T>A)
c.-43-7977T>A (n.-43-7977T>A)
c.-98-32308T>A (n.-98-32308T>A)
n.157T>A
n.4399T>A
n.4440T>A
 dbSNP gnomAD v4
17g.43082499T>ACA002741BRCA1c.4262A>T (p.His1421Leu)
c.4136A>T (p.His1379Leu)
c.4256A>T (p.His1419Leu)
c.4184A>T (p.His1395Leu)
c.950A>T (p.His317Leu)
c.812A>T (p.His271Leu)
c.3374A>T (p.His1125Leu)
c.4139A>T (p.His1380Leu)
c.4121A>T (p.His1374Leu)
c.827A>T (p.His276Leu)
c.872A>T (p.His291Leu)
c.583A>T
c.836A>T (p.His279Leu)
c.*4045A>T (n.*4045A>T)
c.556A>T
c.953A>T (p.His318Leu)
c.575A>T (p.His192Leu)
c.578A>T (p.His193Leu)
c.5-18548A>T (n.5-18548A>T)
c.-43-7978A>T (n.-43-7978A>T)
c.-98-32309A>T (n.-98-32309A>T)
n.156A>T
n.4398A>T
n.4439A>T
 ClinVar dbSNP
17g.43082499T>CCA002740BRCA1c.4262A>G (p.His1421Arg)
c.4136A>G (p.His1379Arg)
c.4256A>G (p.His1419Arg)
c.4184A>G (p.His1395Arg)
c.950A>G (p.His317Arg)
c.812A>G (p.His271Arg)
c.3374A>G (p.His1125Arg)
c.4139A>G (p.His1380Arg)
c.4121A>G (p.His1374Arg)
c.827A>G (p.His276Arg)
c.872A>G (p.His291Arg)
c.583A>G
c.836A>G (p.His279Arg)
c.*4045A>G (n.*4045A>G)
c.556A>G
c.953A>G (p.His318Arg)
c.575A>G (p.His192Arg)
c.578A>G (p.His193Arg)
c.5-18548A>G (n.5-18548A>G)
c.-43-7978A>G (n.-43-7978A>G)
c.-98-32309A>G (n.-98-32309A>G)
n.156A>G
n.4398A>G
n.4439A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082499T>GCA10593198BRCA1c.4262A>C (p.His1421Pro)
c.4136A>C (p.His1379Pro)
c.4256A>C (p.His1419Pro)
c.4184A>C (p.His1395Pro)
c.950A>C (p.His317Pro)
c.812A>C (p.His271Pro)
c.3374A>C (p.His1125Pro)
c.4139A>C (p.His1380Pro)
c.4121A>C (p.His1374Pro)
c.827A>C (p.His276Pro)
c.872A>C (p.His291Pro)
c.583A>C
c.836A>C (p.His279Pro)
c.*4045A>C (n.*4045A>C)
c.556A>C
c.953A>C (p.His318Pro)
c.575A>C (p.His192Pro)
c.578A>C (p.His193Pro)
c.5-18548A>C (n.5-18548A>C)
c.-43-7978A>C (n.-43-7978A>C)
c.-98-32309A>C (n.-98-32309A>C)
n.156A>C
n.4398A>C
n.4439A>C
 ClinVar dbSNP
17g.43082499T=CA2260778025BRCA1c.4262A= (p.His1421=)
c.4136A= (p.His1379=)
c.4256A= (p.His1419=)
c.4184A= (p.His1395=)
c.950A= (p.His317=)
c.812A= (p.His271=)
c.3374A= (p.His1125=)
c.4139A= (p.His1380=)
c.4121A= (p.His1374=)
c.827A= (p.His276=)
c.872A= (p.His291=)
c.583A=
c.836A= (p.His279=)
c.*4045A= (n.*4045A=)
c.556A=
c.953A= (p.His318=)
c.575A= (p.His192=)
c.578A= (p.His193=)
c.5-18548A= (n.5-18548A=)
c.-43-7978A= (n.-43-7978A=)
c.-98-32309A= (n.-98-32309A=)
n.156A=
n.4398A=
n.4439A=
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

Number of alleles fetched