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.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.43082529A=CA2260778049BRCA1c.4232T= (p.Met1411=)
c.4106T= (p.Met1369=)
c.4226T= (p.Met1409=)
c.4154T= (p.Met1385=)
c.920T= (p.Met307=)
c.782T= (p.Met261=)
c.3344T= (p.Met1115=)
c.4109T= (p.Met1370=)
c.4091T= (p.Met1364=)
c.797T= (p.Met266=)
c.842T= (p.Met281=)
c.553T=
c.806T= (p.Met269=)
c.*4015T= (n.*4015T=)
c.526T=
c.923T= (p.Met308=)
c.545T= (p.Met182=)
c.548T= (p.Met183=)
c.5-18578T= (n.5-18578T=)
c.-43-8008T= (n.-43-8008T=)
c.-98-32339T= (n.-98-32339T=)
n.126T=
n.4368T=
n.4409T=
17g.43082529A>CCA10593256BRCA1c.4232T>G (p.Met1411Arg)
c.4106T>G (p.Met1369Arg)
c.4226T>G (p.Met1409Arg)
c.4154T>G (p.Met1385Arg)
c.920T>G (p.Met307Arg)
c.782T>G (p.Met261Arg)
c.3344T>G (p.Met1115Arg)
c.4109T>G (p.Met1370Arg)
c.4091T>G (p.Met1364Arg)
c.797T>G (p.Met266Arg)
c.842T>G (p.Met281Arg)
c.553T>G
c.806T>G (p.Met269Arg)
c.*4015T>G (n.*4015T>G)
c.526T>G
c.923T>G (p.Met308Arg)
c.545T>G (p.Met182Arg)
c.548T>G (p.Met183Arg)
c.5-18578T>G (n.5-18578T>G)
c.-43-8008T>G (n.-43-8008T>G)
c.-98-32339T>G (n.-98-32339T>G)
n.126T>G
n.4368T>G
n.4409T>G
 dbSNP
17g.43082529A>GCA002723BRCA1c.4232T>C (p.Met1411Thr)
c.4106T>C (p.Met1369Thr)
c.4226T>C (p.Met1409Thr)
c.4154T>C (p.Met1385Thr)
c.920T>C (p.Met307Thr)
c.782T>C (p.Met261Thr)
c.3344T>C (p.Met1115Thr)
c.4109T>C (p.Met1370Thr)
c.4091T>C (p.Met1364Thr)
c.797T>C (p.Met266Thr)
c.842T>C (p.Met281Thr)
c.553T>C
c.806T>C (p.Met269Thr)
c.*4015T>C (n.*4015T>C)
c.526T>C
c.923T>C (p.Met308Thr)
c.545T>C (p.Met182Thr)
c.548T>C (p.Met183Thr)
c.5-18578T>C (n.5-18578T>C)
c.-43-8008T>C (n.-43-8008T>C)
c.-98-32339T>C (n.-98-32339T>C)
n.126T>C
n.4368T>C
n.4409T>C
 ClinVar dbSNP
17g.43082529A>TCA10593257BRCA1c.4232T>A (p.Met1411Lys)
c.4106T>A (p.Met1369Lys)
c.4226T>A (p.Met1409Lys)
c.4154T>A (p.Met1385Lys)
c.920T>A (p.Met307Lys)
c.782T>A (p.Met261Lys)
c.3344T>A (p.Met1115Lys)
c.4109T>A (p.Met1370Lys)
c.4091T>A (p.Met1364Lys)
c.797T>A (p.Met266Lys)
c.842T>A (p.Met281Lys)
c.553T>A
c.806T>A (p.Met269Lys)
c.*4015T>A (n.*4015T>A)
c.526T>A
c.923T>A (p.Met308Lys)
c.545T>A (p.Met182Lys)
c.548T>A (p.Met183Lys)
c.5-18578T>A (n.5-18578T>A)
c.-43-8008T>A (n.-43-8008T>A)
c.-98-32339T>A (n.-98-32339T>A)
n.126T>A
n.4368T>A
n.4409T>A
 dbSNP
17g.43082530T>ACA10593258BRCA1c.4231A>T (p.Met1411Leu)
c.4105A>T (p.Met1369Leu)
c.4225A>T (p.Met1409Leu)
c.4153A>T (p.Met1385Leu)
c.919A>T (p.Met307Leu)
c.781A>T (p.Met261Leu)
c.3343A>T (p.Met1115Leu)
c.4108A>T (p.Met1370Leu)
c.4090A>T (p.Met1364Leu)
c.796A>T (p.Met266Leu)
c.841A>T (p.Met281Leu)
c.552A>T
c.805A>T (p.Met269Leu)
c.*4014A>T (n.*4014A>T)
c.525A>T
c.922A>T (p.Met308Leu)
c.544A>T (p.Met182Leu)
c.547A>T (p.Met183Leu)
c.5-18579A>T (n.5-18579A>T)
c.-43-8009A>T (n.-43-8009A>T)
c.-98-32340A>T (n.-98-32340A>T)
n.125A>T
n.4367A>T
n.4408A>T
17g.43082530T>CCA002722BRCA1c.4231A>G (p.Met1411Val)
c.4105A>G (p.Met1369Val)
c.4225A>G (p.Met1409Val)
c.4153A>G (p.Met1385Val)
c.919A>G (p.Met307Val)
c.781A>G (p.Met261Val)
c.3343A>G (p.Met1115Val)
c.4108A>G (p.Met1370Val)
c.4090A>G (p.Met1364Val)
c.796A>G (p.Met266Val)
c.841A>G (p.Met281Val)
c.552A>G
c.805A>G (p.Met269Val)
c.*4014A>G (n.*4014A>G)
c.525A>G
c.922A>G (p.Met308Val)
c.544A>G (p.Met182Val)
c.547A>G (p.Met183Val)
c.5-18579A>G (n.5-18579A>G)
c.-43-8009A>G (n.-43-8009A>G)
c.-98-32340A>G (n.-98-32340A>G)
n.125A>G
n.4367A>G
n.4408A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082530T>GCA10593259BRCA1c.4231A>C (p.Met1411Leu)
c.4105A>C (p.Met1369Leu)
c.4225A>C (p.Met1409Leu)
c.4153A>C (p.Met1385Leu)
c.919A>C (p.Met307Leu)
c.781A>C (p.Met261Leu)
c.3343A>C (p.Met1115Leu)
c.4108A>C (p.Met1370Leu)
c.4090A>C (p.Met1364Leu)
c.796A>C (p.Met266Leu)
c.841A>C (p.Met281Leu)
c.552A>C
c.805A>C (p.Met269Leu)
c.*4014A>C (n.*4014A>C)
c.525A>C
c.922A>C (p.Met308Leu)
c.544A>C (p.Met182Leu)
c.547A>C (p.Met183Leu)
c.5-18579A>C (n.5-18579A>C)
c.-43-8009A>C (n.-43-8009A>C)
c.-98-32340A>C (n.-98-32340A>C)
n.125A>C
n.4367A>C
n.4408A>C
17g.43082530T=CA2260778050BRCA1c.4231A= (p.Met1411=)
c.4105A= (p.Met1369=)
c.4225A= (p.Met1409=)
c.4153A= (p.Met1385=)
c.919A= (p.Met307=)
c.781A= (p.Met261=)
c.3343A= (p.Met1115=)
c.4108A= (p.Met1370=)
c.4090A= (p.Met1364=)
c.796A= (p.Met266=)
c.841A= (p.Met281=)
c.552A=
c.805A= (p.Met269=)
c.*4014A= (n.*4014A=)
c.525A=
c.922A= (p.Met308=)
c.544A= (p.Met182=)
c.547A= (p.Met183=)
c.5-18579A= (n.5-18579A=)
c.-43-8009A= (n.-43-8009A=)
c.-98-32340A= (n.-98-32340A=)
n.125A=
n.4367A=
n.4408A=
17g.43082530_43082532delinsCCCA2499224427BRCA1c.4229_4231delinsGG (p.Glu1410GlyfsTer5)
c.4103_4105delinsGG (p.Glu1368GlyfsTer5)
c.4223_4225delinsGG (p.Glu1408GlyfsTer5)
c.4151_4153delinsGG (p.Glu1384GlyfsTer5)
c.917_919delinsGG (p.Glu306GlyfsTer5)
c.779_781delinsGG (p.Glu260GlyfsTer5)
c.3341_3343delinsGG (p.Glu1114GlyfsTer5)
c.4106_4108delinsGG (p.Glu1369GlyfsTer5)
c.4088_4090delinsGG (p.Glu1363GlyfsTer5)
c.794_796delinsGG (p.Glu265GlyfsTer5)
c.839_841delinsGG (p.Glu280GlyfsTer5)
c.550_552delinsGG
c.803_805delinsGG (p.Glu268GlyfsTer5)
c.*4012_*4014delinsGG (n.*4012_*4014delinsGG)
c.523_525delinsGG
c.920_922delinsGG (p.Glu307GlyfsTer5)
c.542_544delinsGG (p.Glu181GlyfsTer5)
c.545_547delinsGG (p.Glu182GlyfsTer5)
c.5-18581_5-18579delinsGG (n.5-18581_5-18579delinsGG)
c.-43-8011_-43-8009delinsGG (n.-43-8011_-43-8009delinsGG)
c.-98-32342_-98-32340delinsGG (n.-98-32342_-98-32340delinsGG)
n.123_125delinsGG
n.4365_4367delinsGG
n.4406_4408delinsGG
17g.43082532delCA2580612621BRCA1c.4231del (p.Met1411TrpfsTer4)
c.4105del (p.Met1369TrpfsTer4)
c.4225del (p.Met1409TrpfsTer4)
c.4153del (p.Met1385TrpfsTer4)
c.919del (p.Met307TrpfsTer4)
c.781del (p.Met261TrpfsTer4)
c.3343del (p.Met1115TrpfsTer4)
c.4108del (p.Met1370TrpfsTer4)
c.4090del (p.Met1364TrpfsTer4)
c.796del (p.Met266TrpfsTer4)
c.841del (p.Met281TrpfsTer4)
c.552del
c.805del (p.Met269TrpfsTer4)
c.*4014del (n.*4014del)
c.525del
c.922del (p.Met308TrpfsTer4)
c.544del (p.Met182TrpfsTer4)
c.547del (p.Met183TrpfsTer4)
c.5-18579del (n.5-18579del)
c.-43-8009del (n.-43-8009del)
c.-98-32340del (n.-98-32340del)
n.125del
n.4367del
n.4408del
 ClinVar
17g.43082531_43082538delCA2499224428BRCA1c.4224_4231del (p.Gln1408HisfsTer3)
c.4098_4105del (p.Gln1366HisfsTer3)
c.4218_4225del (p.Gln1406HisfsTer3)
c.4146_4153del (p.Gln1382HisfsTer3)
c.912_919del (p.Gln304HisfsTer3)
c.774_781del (p.Gln258HisfsTer3)
c.3336_3343del (p.Gln1112HisfsTer3)
c.4101_4108del (p.Gln1367HisfsTer3)
c.4083_4090del (p.Gln1361HisfsTer3)
c.789_796del (p.Gln263HisfsTer3)
c.834_841del (p.Gln278HisfsTer3)
c.545_552del
c.798_805del (p.Gln266HisfsTer3)
c.*4007_*4014del (n.*4007_*4014del)
c.518_525del
c.915_922del (p.Gln305HisfsTer3)
c.537_544del (p.Gln179HisfsTer3)
c.540_547del (p.Gln180HisfsTer3)
c.5-18586_5-18579del (n.5-18586_5-18579del)
c.-43-8016_-43-8009del (n.-43-8016_-43-8009del)
c.-98-32347_-98-32340del (n.-98-32347_-98-32340del)
n.118_125del
n.4360_4367del
n.4401_4408del
17g.43082531T>ACA10593260BRCA1c.4230A>T (p.Glu1410Asp)
c.4104A>T (p.Glu1368Asp)
c.4224A>T (p.Glu1408Asp)
c.4152A>T (p.Glu1384Asp)
c.918A>T (p.Glu306Asp)
c.780A>T (p.Glu260Asp)
c.3342A>T (p.Glu1114Asp)
c.4107A>T (p.Glu1369Asp)
c.4089A>T (p.Glu1363Asp)
c.795A>T (p.Glu265Asp)
c.840A>T (p.Glu280Asp)
c.551A>T
c.804A>T (p.Glu268Asp)
c.*4013A>T (n.*4013A>T)
c.524A>T
c.921A>T (p.Glu307Asp)
c.543A>T (p.Glu181Asp)
c.546A>T (p.Glu182Asp)
c.5-18580A>T (n.5-18580A>T)
c.-43-8010A>T (n.-43-8010A>T)
c.-98-32341A>T (n.-98-32341A>T)
n.124A>T
n.4366A>T
n.4407A>T
 dbSNP
17g.43082531T>CCA500148417BRCA1c.4230A>G (p.Glu1410=)
c.4104A>G (p.Glu1368=)
c.4224A>G (p.Glu1408=)
c.4152A>G (p.Glu1384=)
c.918A>G (p.Glu306=)
c.780A>G (p.Glu260=)
c.3342A>G (p.Glu1114=)
c.4107A>G (p.Glu1369=)
c.4089A>G (p.Glu1363=)
c.795A>G (p.Glu265=)
c.840A>G (p.Glu280=)
c.551A>G
c.804A>G (p.Glu268=)
c.*4013A>G (n.*4013A>G)
c.524A>G
c.921A>G (p.Glu307=)
c.543A>G (p.Glu181=)
c.546A>G (p.Glu182=)
c.5-18580A>G (n.5-18580A>G)
c.-43-8010A>G (n.-43-8010A>G)
c.-98-32341A>G (n.-98-32341A>G)
n.124A>G
n.4366A>G
n.4407A>G
 ClinVar dbSNP gnomAD v4
17g.43082531T>GCA10593261BRCA1c.4230A>C (p.Glu1410Asp)
c.4104A>C (p.Glu1368Asp)
c.4224A>C (p.Glu1408Asp)
c.4152A>C (p.Glu1384Asp)
c.918A>C (p.Glu306Asp)
c.780A>C (p.Glu260Asp)
c.3342A>C (p.Glu1114Asp)
c.4107A>C (p.Glu1369Asp)
c.4089A>C (p.Glu1363Asp)
c.795A>C (p.Glu265Asp)
c.840A>C (p.Glu280Asp)
c.551A>C
c.804A>C (p.Glu268Asp)
c.*4013A>C (n.*4013A>C)
c.524A>C
c.921A>C (p.Glu307Asp)
c.543A>C (p.Glu181Asp)
c.546A>C (p.Glu182Asp)
c.5-18580A>C (n.5-18580A>C)
c.-43-8010A>C (n.-43-8010A>C)
c.-98-32341A>C (n.-98-32341A>C)
n.124A>C
n.4366A>C
n.4407A>C
17g.43082531T=CA2260778051BRCA1c.4230A= (p.Glu1410=)
c.4104A= (p.Glu1368=)
c.4224A= (p.Glu1408=)
c.4152A= (p.Glu1384=)
c.918A= (p.Glu306=)
c.780A= (p.Glu260=)
c.3342A= (p.Glu1114=)
c.4107A= (p.Glu1369=)
c.4089A= (p.Glu1363=)
c.795A= (p.Glu265=)
c.840A= (p.Glu280=)
c.551A=
c.804A= (p.Glu268=)
c.*4013A= (n.*4013A=)
c.524A=
c.921A= (p.Glu307=)
c.543A= (p.Glu181=)
c.546A= (p.Glu182=)
c.5-18580A= (n.5-18580A=)
c.-43-8010A= (n.-43-8010A=)
c.-98-32341A= (n.-98-32341A=)
n.124A=
n.4366A=
n.4407A=
17g.43082532T>ACA10593262BRCA1c.4229A>T (p.Glu1410Val)
c.4103A>T (p.Glu1368Val)
c.4223A>T (p.Glu1408Val)
c.4151A>T (p.Glu1384Val)
c.917A>T (p.Glu306Val)
c.779A>T (p.Glu260Val)
c.3341A>T (p.Glu1114Val)
c.4106A>T (p.Glu1369Val)
c.4088A>T (p.Glu1363Val)
c.794A>T (p.Glu265Val)
c.839A>T (p.Glu280Val)
c.550A>T
c.803A>T (p.Glu268Val)
c.*4012A>T (n.*4012A>T)
c.523A>T
c.920A>T (p.Glu307Val)
c.542A>T (p.Glu181Val)
c.545A>T (p.Glu182Val)
c.5-18581A>T (n.5-18581A>T)
c.-43-8011A>T (n.-43-8011A>T)
c.-98-32342A>T (n.-98-32342A>T)
n.123A>T
n.4365A>T
n.4406A>T
 ClinVar dbSNP
17g.43082532T>CCA10593263BRCA1c.4229A>G (p.Glu1410Gly)
c.4103A>G (p.Glu1368Gly)
c.4223A>G (p.Glu1408Gly)
c.4151A>G (p.Glu1384Gly)
c.917A>G (p.Glu306Gly)
c.779A>G (p.Glu260Gly)
c.3341A>G (p.Glu1114Gly)
c.4106A>G (p.Glu1369Gly)
c.4088A>G (p.Glu1363Gly)
c.794A>G (p.Glu265Gly)
c.839A>G (p.Glu280Gly)
c.550A>G
c.803A>G (p.Glu268Gly)
c.*4012A>G (n.*4012A>G)
c.523A>G
c.920A>G (p.Glu307Gly)
c.542A>G (p.Glu181Gly)
c.545A>G (p.Glu182Gly)
c.5-18581A>G (n.5-18581A>G)
c.-43-8011A>G (n.-43-8011A>G)
c.-98-32342A>G (n.-98-32342A>G)
n.123A>G
n.4365A>G
n.4406A>G
17g.43082532T>GCA10593264BRCA1c.4229A>C (p.Glu1410Ala)
c.4103A>C (p.Glu1368Ala)
c.4223A>C (p.Glu1408Ala)
c.4151A>C (p.Glu1384Ala)
c.917A>C (p.Glu306Ala)
c.779A>C (p.Glu260Ala)
c.3341A>C (p.Glu1114Ala)
c.4106A>C (p.Glu1369Ala)
c.4088A>C (p.Glu1363Ala)
c.794A>C (p.Glu265Ala)
c.839A>C (p.Glu280Ala)
c.550A>C
c.803A>C (p.Glu268Ala)
c.*4012A>C (n.*4012A>C)
c.523A>C
c.920A>C (p.Glu307Ala)
c.542A>C (p.Glu181Ala)
c.545A>C (p.Glu182Ala)
c.5-18581A>C (n.5-18581A>C)
c.-43-8011A>C (n.-43-8011A>C)
c.-98-32342A>C (n.-98-32342A>C)
n.123A>C
n.4365A>C
n.4406A>C
17g.43082532T=CA2260778052BRCA1c.4229A= (p.Glu1410=)
c.4103A= (p.Glu1368=)
c.4223A= (p.Glu1408=)
c.4151A= (p.Glu1384=)
c.917A= (p.Glu306=)
c.779A= (p.Glu260=)
c.3341A= (p.Glu1114=)
c.4106A= (p.Glu1369=)
c.4088A= (p.Glu1363=)
c.794A= (p.Glu265=)
c.839A= (p.Glu280=)
c.550A=
c.803A= (p.Glu268=)
c.*4012A= (n.*4012A=)
c.523A=
c.920A= (p.Glu307=)
c.542A= (p.Glu181=)
c.545A= (p.Glu182=)
c.5-18581A= (n.5-18581A=)
c.-43-8011A= (n.-43-8011A=)
c.-98-32342A= (n.-98-32342A=)
n.123A=
n.4365A=
n.4406A=
17g.43082533_43082535dupCA913187500BRCA1c.4227_4229dup (p.Glu1410_Met1411insGlu)
c.4101_4103dup (p.Glu1368_Met1369insGlu)
c.4221_4223dup (p.Glu1408_Met1409insGlu)
c.4149_4151dup (p.Glu1384_Met1385insGlu)
c.915_917dup (p.Glu306_Met307insGlu)
c.777_779dup (p.Glu260_Met261insGlu)
c.3339_3341dup (p.Glu1114_Met1115insGlu)
c.4104_4106dup (p.Glu1369_Met1370insGlu)
c.4086_4088dup (p.Glu1363_Met1364insGlu)
c.792_794dup (p.Glu265_Met266insGlu)
c.837_839dup (p.Glu280_Met281insGlu)
c.548_550dup
c.801_803dup (p.Glu268_Met269insGlu)
c.*4010_*4012dup (n.*4010_*4012dup)
c.521_523dup
c.918_920dup (p.Glu307_Met308insGlu)
c.540_542dup (p.Glu181_Met182insGlu)
c.543_545dup (p.Glu182_Met183insGlu)
c.5-18583_5-18581dup (n.5-18583_5-18581dup)
c.-43-8013_-43-8011dup (n.-43-8013_-43-8011dup)
c.-98-32344_-98-32342dup (n.-98-32344_-98-32342dup)
n.121_123dup
n.4363_4365dup
n.4404_4406dup
 ClinVar dbSNP
17g.43082533C>ACA002721BRCA1c.4228G>T (p.Glu1410Ter)
c.4102G>T (p.Glu1368Ter)
c.4222G>T (p.Glu1408Ter)
c.4150G>T (p.Glu1384Ter)
c.916G>T (p.Glu306Ter)
c.778G>T (p.Glu260Ter)
c.3340G>T (p.Glu1114Ter)
c.4105G>T (p.Glu1369Ter)
c.4087G>T (p.Glu1363Ter)
c.793G>T (p.Glu265Ter)
c.838G>T (p.Glu280Ter)
c.549G>T
c.802G>T (p.Glu268Ter)
c.*4011G>T (n.*4011G>T)
c.522G>T
c.919G>T (p.Glu307Ter)
c.541G>T (p.Glu181Ter)
c.544G>T (p.Glu182Ter)
c.5-18582G>T (n.5-18582G>T)
c.-43-8012G>T (n.-43-8012G>T)
c.-98-32343G>T (n.-98-32343G>T)
n.122G>T
n.4364G>T
n.4405G>T
 ClinVar dbSNP
17g.43082533C=CA2260778053BRCA1c.4228G= (p.Glu1410=)
c.4102G= (p.Glu1368=)
c.4222G= (p.Glu1408=)
c.4150G= (p.Glu1384=)
c.916G= (p.Glu306=)
c.778G= (p.Glu260=)
c.3340G= (p.Glu1114=)
c.4105G= (p.Glu1369=)
c.4087G= (p.Glu1363=)
c.793G= (p.Glu265=)
c.838G= (p.Glu280=)
c.549G=
c.802G= (p.Glu268=)
c.*4011G= (n.*4011G=)
c.522G=
c.919G= (p.Glu307=)
c.541G= (p.Glu181=)
c.544G= (p.Glu182=)
c.5-18582G= (n.5-18582G=)
c.-43-8012G= (n.-43-8012G=)
c.-98-32343G= (n.-98-32343G=)
n.122G=
n.4364G=
n.4405G=
17g.43082533C>GCA10593265BRCA1c.4228G>C (p.Glu1410Gln)
c.4102G>C (p.Glu1368Gln)
c.4222G>C (p.Glu1408Gln)
c.4150G>C (p.Glu1384Gln)
c.916G>C (p.Glu306Gln)
c.778G>C (p.Glu260Gln)
c.3340G>C (p.Glu1114Gln)
c.4105G>C (p.Glu1369Gln)
c.4087G>C (p.Glu1363Gln)
c.793G>C (p.Glu265Gln)
c.838G>C (p.Glu280Gln)
c.549G>C
c.802G>C (p.Glu268Gln)
c.*4011G>C (n.*4011G>C)
c.522G>C
c.919G>C (p.Glu307Gln)
c.541G>C (p.Glu181Gln)
c.544G>C (p.Glu182Gln)
c.5-18582G>C (n.5-18582G>C)
c.-43-8012G>C (n.-43-8012G>C)
c.-98-32343G>C (n.-98-32343G>C)
n.122G>C
n.4364G>C
n.4405G>C
 dbSNP
17g.43082533C>TCA10593266BRCA1c.4228G>A (p.Glu1410Lys)
c.4102G>A (p.Glu1368Lys)
c.4222G>A (p.Glu1408Lys)
c.4150G>A (p.Glu1384Lys)
c.916G>A (p.Glu306Lys)
c.778G>A (p.Glu260Lys)
c.3340G>A (p.Glu1114Lys)
c.4105G>A (p.Glu1369Lys)
c.4087G>A (p.Glu1363Lys)
c.793G>A (p.Glu265Lys)
c.838G>A (p.Glu280Lys)
c.549G>A
c.802G>A (p.Glu268Lys)
c.*4011G>A (n.*4011G>A)
c.522G>A
c.919G>A (p.Glu307Lys)
c.541G>A (p.Glu181Lys)
c.544G>A (p.Glu182Lys)
c.5-18582G>A (n.5-18582G>A)
c.-43-8012G>A (n.-43-8012G>A)
c.-98-32343G>A (n.-98-32343G>A)
n.122G>A
n.4364G>A
n.4405G>A
 dbSNP
17g.43082534delCA658761228BRCA1c.4228del (p.Glu1410LysfsTer5)
c.4102del (p.Glu1368LysfsTer5)
c.4222del (p.Glu1408LysfsTer5)
c.4150del (p.Glu1384LysfsTer5)
c.916del (p.Glu306LysfsTer5)
c.778del (p.Glu260LysfsTer5)
c.3340del (p.Glu1114LysfsTer5)
c.4105del (p.Glu1369LysfsTer5)
c.4087del (p.Glu1363LysfsTer5)
c.793del (p.Glu265LysfsTer5)
c.838del (p.Glu280LysfsTer5)
c.549del
c.802del (p.Glu268LysfsTer5)
c.*4011del (n.*4011del)
c.522del
c.919del (p.Glu307LysfsTer5)
c.541del (p.Glu181LysfsTer5)
c.544del (p.Glu182LysfsTer5)
c.5-18582del (n.5-18582del)
c.-43-8012del (n.-43-8012del)
c.-98-32343del (n.-98-32343del)
n.122del
n.4364del
n.4405del
17g.43082534C>ACA10593267BRCA1c.4227G>T (p.Gln1409His)
c.4101G>T (p.Gln1367His)
c.4221G>T (p.Gln1407His)
c.4149G>T (p.Gln1383His)
c.915G>T (p.Gln305His)
c.777G>T (p.Gln259His)
c.3339G>T (p.Gln1113His)
c.4104G>T (p.Gln1368His)
c.4086G>T (p.Gln1362His)
c.792G>T (p.Gln264His)
c.837G>T (p.Gln279His)
c.548G>T
c.801G>T (p.Gln267His)
c.*4010G>T (n.*4010G>T)
c.521G>T
c.918G>T (p.Gln306His)
c.540G>T (p.Gln180His)
c.543G>T (p.Gln181His)
c.5-18583G>T (n.5-18583G>T)
c.-43-8013G>T (n.-43-8013G>T)
c.-98-32344G>T (n.-98-32344G>T)
n.121G>T
n.4363G>T
n.4404G>T
17g.43082534C=CA2260778054BRCA1c.4227G= (p.Gln1409=)
c.4101G= (p.Gln1367=)
c.4221G= (p.Gln1407=)
c.4149G= (p.Gln1383=)
c.915G= (p.Gln305=)
c.777G= (p.Gln259=)
c.3339G= (p.Gln1113=)
c.4104G= (p.Gln1368=)
c.4086G= (p.Gln1362=)
c.792G= (p.Gln264=)
c.837G= (p.Gln279=)
c.548G=
c.801G= (p.Gln267=)
c.*4010G= (n.*4010G=)
c.521G=
c.918G= (p.Gln306=)
c.540G= (p.Gln180=)
c.543G= (p.Gln181=)
c.5-18583G= (n.5-18583G=)
c.-43-8013G= (n.-43-8013G=)
c.-98-32344G= (n.-98-32344G=)
n.121G=
n.4363G=
n.4404G=
17g.43082534C>GCA10593268BRCA1c.4227G>C (p.Gln1409His)
c.4101G>C (p.Gln1367His)
c.4221G>C (p.Gln1407His)
c.4149G>C (p.Gln1383His)
c.915G>C (p.Gln305His)
c.777G>C (p.Gln259His)
c.3339G>C (p.Gln1113His)
c.4104G>C (p.Gln1368His)
c.4086G>C (p.Gln1362His)
c.792G>C (p.Gln264His)
c.837G>C (p.Gln279His)
c.548G>C
c.801G>C (p.Gln267His)
c.*4010G>C (n.*4010G>C)
c.521G>C
c.918G>C (p.Gln306His)
c.540G>C (p.Gln180His)
c.543G>C (p.Gln181His)
c.5-18583G>C (n.5-18583G>C)
c.-43-8013G>C (n.-43-8013G>C)
c.-98-32344G>C (n.-98-32344G>C)
n.121G>C
n.4363G>C
n.4404G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082534C>TCA002720BRCA1c.4227G>A (p.Gln1409=)
c.4101G>A (p.Gln1367=)
c.4221G>A (p.Gln1407=)
c.4149G>A (p.Gln1383=)
c.915G>A (p.Gln305=)
c.777G>A (p.Gln259=)
c.3339G>A (p.Gln1113=)
c.4104G>A (p.Gln1368=)
c.4086G>A (p.Gln1362=)
c.792G>A (p.Gln264=)
c.837G>A (p.Gln279=)
c.548G>A
c.801G>A (p.Gln267=)
c.*4010G>A (n.*4010G>A)
c.521G>A
c.918G>A (p.Gln306=)
c.540G>A (p.Gln180=)
c.543G>A (p.Gln181=)
c.5-18583G>A (n.5-18583G>A)
c.-43-8013G>A (n.-43-8013G>A)
c.-98-32344G>A (n.-98-32344G>A)
n.121G>A
n.4363G>A
n.4404G>A
 ClinVar dbSNP
17g.43082535T>ACA10593269BRCA1c.4226A>T (p.Gln1409Leu)
c.4100A>T (p.Gln1367Leu)
c.4220A>T (p.Gln1407Leu)
c.4148A>T (p.Gln1383Leu)
c.914A>T (p.Gln305Leu)
c.776A>T (p.Gln259Leu)
c.3338A>T (p.Gln1113Leu)
c.4103A>T (p.Gln1368Leu)
c.4085A>T (p.Gln1362Leu)
c.791A>T (p.Gln264Leu)
c.836A>T (p.Gln279Leu)
c.547A>T
c.800A>T (p.Gln267Leu)
c.*4009A>T (n.*4009A>T)
c.520A>T
c.917A>T (p.Gln306Leu)
c.539A>T (p.Gln180Leu)
c.542A>T (p.Gln181Leu)
c.5-18584A>T (n.5-18584A>T)
c.-43-8014A>T (n.-43-8014A>T)
c.-98-32345A>T (n.-98-32345A>T)
n.120A>T
n.4362A>T
n.4403A>T
 ClinVar dbSNP
17g.43082535T>CCA10593270BRCA1c.4226A>G (p.Gln1409Arg)
c.4100A>G (p.Gln1367Arg)
c.4220A>G (p.Gln1407Arg)
c.4148A>G (p.Gln1383Arg)
c.914A>G (p.Gln305Arg)
c.776A>G (p.Gln259Arg)
c.3338A>G (p.Gln1113Arg)
c.4103A>G (p.Gln1368Arg)
c.4085A>G (p.Gln1362Arg)
c.791A>G (p.Gln264Arg)
c.836A>G (p.Gln279Arg)
c.547A>G
c.800A>G (p.Gln267Arg)
c.*4009A>G (n.*4009A>G)
c.520A>G
c.917A>G (p.Gln306Arg)
c.539A>G (p.Gln180Arg)
c.542A>G (p.Gln181Arg)
c.5-18584A>G (n.5-18584A>G)
c.-43-8014A>G (n.-43-8014A>G)
c.-98-32345A>G (n.-98-32345A>G)
n.120A>G
n.4362A>G
n.4403A>G
17g.43082535T>GCA10593271BRCA1c.4226A>C (p.Gln1409Pro)
c.4100A>C (p.Gln1367Pro)
c.4220A>C (p.Gln1407Pro)
c.4148A>C (p.Gln1383Pro)
c.914A>C (p.Gln305Pro)
c.776A>C (p.Gln259Pro)
c.3338A>C (p.Gln1113Pro)
c.4103A>C (p.Gln1368Pro)
c.4085A>C (p.Gln1362Pro)
c.791A>C (p.Gln264Pro)
c.836A>C (p.Gln279Pro)
c.547A>C
c.800A>C (p.Gln267Pro)
c.*4009A>C (n.*4009A>C)
c.520A>C
c.917A>C (p.Gln306Pro)
c.539A>C (p.Gln180Pro)
c.542A>C (p.Gln181Pro)
c.5-18584A>C (n.5-18584A>C)
c.-43-8014A>C (n.-43-8014A>C)
c.-98-32345A>C (n.-98-32345A>C)
n.120A>C
n.4362A>C
n.4403A>C
 ClinVar
17g.43082535T=CA2260778055BRCA1c.4226A= (p.Gln1409=)
c.4100A= (p.Gln1367=)
c.4220A= (p.Gln1407=)
c.4148A= (p.Gln1383=)
c.914A= (p.Gln305=)
c.776A= (p.Gln259=)
c.3338A= (p.Gln1113=)
c.4103A= (p.Gln1368=)
c.4085A= (p.Gln1362=)
c.791A= (p.Gln264=)
c.836A= (p.Gln279=)
c.547A=
c.800A= (p.Gln267=)
c.*4009A= (n.*4009A=)
c.520A=
c.917A= (p.Gln306=)
c.539A= (p.Gln180=)
c.542A= (p.Gln181=)
c.5-18584A= (n.5-18584A=)
c.-43-8014A= (n.-43-8014A=)
c.-98-32345A= (n.-98-32345A=)
n.120A=
n.4362A=
n.4403A=
17g.43082536G>ACA10589677BRCA1c.4225C>T (p.Gln1409Ter)
c.4099C>T (p.Gln1367Ter)
c.4219C>T (p.Gln1407Ter)
c.4147C>T (p.Gln1383Ter)
c.913C>T (p.Gln305Ter)
c.775C>T (p.Gln259Ter)
c.3337C>T (p.Gln1113Ter)
c.4102C>T (p.Gln1368Ter)
c.4084C>T (p.Gln1362Ter)
c.790C>T (p.Gln264Ter)
c.835C>T (p.Gln279Ter)
c.546C>T
c.799C>T (p.Gln267Ter)
c.*4008C>T (n.*4008C>T)
c.519C>T
c.916C>T (p.Gln306Ter)
c.538C>T (p.Gln180Ter)
c.541C>T (p.Gln181Ter)
c.5-18585C>T (n.5-18585C>T)
c.-43-8015C>T (n.-43-8015C>T)
c.-98-32346C>T (n.-98-32346C>T)
n.119C>T
n.4361C>T
n.4402C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43082536G>CCA10593272BRCA1c.4225C>G (p.Gln1409Glu)
c.4099C>G (p.Gln1367Glu)
c.4219C>G (p.Gln1407Glu)
c.4147C>G (p.Gln1383Glu)
c.913C>G (p.Gln305Glu)
c.775C>G (p.Gln259Glu)
c.3337C>G (p.Gln1113Glu)
c.4102C>G (p.Gln1368Glu)
c.4084C>G (p.Gln1362Glu)
c.790C>G (p.Gln264Glu)
c.835C>G (p.Gln279Glu)
c.546C>G
c.799C>G (p.Gln267Glu)
c.*4008C>G (n.*4008C>G)
c.519C>G
c.916C>G (p.Gln306Glu)
c.538C>G (p.Gln180Glu)
c.541C>G (p.Gln181Glu)
c.5-18585C>G (n.5-18585C>G)
c.-43-8015C>G (n.-43-8015C>G)
c.-98-32346C>G (n.-98-32346C>G)
n.119C>G
n.4361C>G
n.4402C>G
 dbSNP gnomAD v4
17g.43082536G=CA2260778056BRCA1c.4225C= (p.Gln1409=)
c.4099C= (p.Gln1367=)
c.4219C= (p.Gln1407=)
c.4147C= (p.Gln1383=)
c.913C= (p.Gln305=)
c.775C= (p.Gln259=)
c.3337C= (p.Gln1113=)
c.4102C= (p.Gln1368=)
c.4084C= (p.Gln1362=)
c.790C= (p.Gln264=)
c.835C= (p.Gln279=)
c.546C=
c.799C= (p.Gln267=)
c.*4008C= (n.*4008C=)
c.519C=
c.916C= (p.Gln306=)
c.538C= (p.Gln180=)
c.541C= (p.Gln181=)
c.5-18585C= (n.5-18585C=)
c.-43-8015C= (n.-43-8015C=)
c.-98-32346C= (n.-98-32346C=)
n.119C=
n.4361C=
n.4402C=
17g.43082536G>TCA10593273BRCA1c.4225C>A (p.Gln1409Lys)
c.4099C>A (p.Gln1367Lys)
c.4219C>A (p.Gln1407Lys)
c.4147C>A (p.Gln1383Lys)
c.913C>A (p.Gln305Lys)
c.775C>A (p.Gln259Lys)
c.3337C>A (p.Gln1113Lys)
c.4102C>A (p.Gln1368Lys)
c.4084C>A (p.Gln1362Lys)
c.790C>A (p.Gln264Lys)
c.835C>A (p.Gln279Lys)
c.546C>A
c.799C>A (p.Gln267Lys)
c.*4008C>A (n.*4008C>A)
c.519C>A
c.916C>A (p.Gln306Lys)
c.538C>A (p.Gln180Lys)
c.541C>A (p.Gln181Lys)
c.5-18585C>A (n.5-18585C>A)
c.-43-8015C>A (n.-43-8015C>A)
c.-98-32346C>A (n.-98-32346C>A)
n.119C>A
n.4361C>A
n.4402C>A
17g.43082537C>ACA10593274BRCA1c.4224G>T (p.Gln1408His)
c.4098G>T (p.Gln1366His)
c.4218G>T (p.Gln1406His)
c.4146G>T (p.Gln1382His)
c.912G>T (p.Gln304His)
c.774G>T (p.Gln258His)
c.3336G>T (p.Gln1112His)
c.4101G>T (p.Gln1367His)
c.4083G>T (p.Gln1361His)
c.789G>T (p.Gln263His)
c.834G>T (p.Gln278His)
c.545G>T
c.798G>T (p.Gln266His)
c.*4007G>T (n.*4007G>T)
c.518G>T
c.915G>T (p.Gln305His)
c.537G>T (p.Gln179His)
c.540G>T (p.Gln180His)
c.5-18586G>T (n.5-18586G>T)
c.-43-8016G>T (n.-43-8016G>T)
c.-98-32347G>T (n.-98-32347G>T)
n.118G>T
n.4360G>T
n.4401G>T
17g.43082537C=CA2260778057BRCA1c.4224G= (p.Gln1408=)
c.4098G= (p.Gln1366=)
c.4218G= (p.Gln1406=)
c.4146G= (p.Gln1382=)
c.912G= (p.Gln304=)
c.774G= (p.Gln258=)
c.3336G= (p.Gln1112=)
c.4101G= (p.Gln1367=)
c.4083G= (p.Gln1361=)
c.789G= (p.Gln263=)
c.834G= (p.Gln278=)
c.545G=
c.798G= (p.Gln266=)
c.*4007G= (n.*4007G=)
c.518G=
c.915G= (p.Gln305=)
c.537G= (p.Gln179=)
c.540G= (p.Gln180=)
c.5-18586G= (n.5-18586G=)
c.-43-8016G= (n.-43-8016G=)
c.-98-32347G= (n.-98-32347G=)
n.118G=
n.4360G=
n.4401G=

Number of alleles fetched