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
17g.43082412G>ACA10593024BRCA1c.4349C>T (p.Ser1450Leu)
c.4223C>T (p.Ser1408Leu)
c.4343C>T (p.Ser1448Leu)
c.4271C>T (p.Ser1424Leu)
c.1037C>T (p.Ser346Leu)
c.899C>T (p.Ser300Leu)
c.3461C>T (p.Ser1154Leu)
c.4226C>T (p.Ser1409Leu)
c.4208C>T (p.Ser1403Leu)
c.914C>T (p.Ser305Leu)
c.959C>T (p.Ser320Leu)
c.670C>T
c.923C>T (p.Ser308Leu)
c.*4132C>T (n.*4132C>T)
c.643C>T
c.1040C>T (p.Ser347Leu)
c.662C>T (p.Ser221Leu)
c.665C>T (p.Ser222Leu)
c.5-18461C>T (n.5-18461C>T)
c.-43-7891C>T (n.-43-7891C>T)
c.-98-32222C>T (n.-98-32222C>T)
n.243C>T
n.4485C>T
n.4526C>T
 ClinVar dbSNP
17g.43082412G>CCA10589668BRCA1c.4349C>G (p.Ser1450Ter)
c.4223C>G (p.Ser1408Ter)
c.4343C>G (p.Ser1448Ter)
c.4271C>G (p.Ser1424Ter)
c.1037C>G (p.Ser346Ter)
c.899C>G (p.Ser300Ter)
c.3461C>G (p.Ser1154Ter)
c.4226C>G (p.Ser1409Ter)
c.4208C>G (p.Ser1403Ter)
c.914C>G (p.Ser305Ter)
c.959C>G (p.Ser320Ter)
c.670C>G
c.923C>G (p.Ser308Ter)
c.*4132C>G (n.*4132C>G)
c.643C>G
c.1040C>G (p.Ser347Ter)
c.662C>G (p.Ser221Ter)
c.665C>G (p.Ser222Ter)
c.5-18461C>G (n.5-18461C>G)
c.-43-7891C>G (n.-43-7891C>G)
c.-98-32222C>G (n.-98-32222C>G)
n.243C>G
n.4485C>G
n.4526C>G
 ClinVar dbSNP gnomAD v4
17g.43082412G=CA2260777956BRCA1c.4349C= (p.Ser1450=)
c.4223C= (p.Ser1408=)
c.4343C= (p.Ser1448=)
c.4271C= (p.Ser1424=)
c.1037C= (p.Ser346=)
c.899C= (p.Ser300=)
c.3461C= (p.Ser1154=)
c.4226C= (p.Ser1409=)
c.4208C= (p.Ser1403=)
c.914C= (p.Ser305=)
c.959C= (p.Ser320=)
c.670C=
c.923C= (p.Ser308=)
c.*4132C= (n.*4132C=)
c.643C=
c.1040C= (p.Ser347=)
c.662C= (p.Ser221=)
c.665C= (p.Ser222=)
c.5-18461C= (n.5-18461C=)
c.-43-7891C= (n.-43-7891C=)
c.-98-32222C= (n.-98-32222C=)
n.243C=
n.4485C=
n.4526C=
17g.43082412G>TCA10593025BRCA1c.4349C>A (p.Ser1450Ter)
c.4223C>A (p.Ser1408Ter)
c.4343C>A (p.Ser1448Ter)
c.4271C>A (p.Ser1424Ter)
c.1037C>A (p.Ser346Ter)
c.899C>A (p.Ser300Ter)
c.3461C>A (p.Ser1154Ter)
c.4226C>A (p.Ser1409Ter)
c.4208C>A (p.Ser1403Ter)
c.914C>A (p.Ser305Ter)
c.959C>A (p.Ser320Ter)
c.670C>A
c.923C>A (p.Ser308Ter)
c.*4132C>A (n.*4132C>A)
c.643C>A
c.1040C>A (p.Ser347Ter)
c.662C>A (p.Ser221Ter)
c.665C>A (p.Ser222Ter)
c.5-18461C>A (n.5-18461C>A)
c.-43-7891C>A (n.-43-7891C>A)
c.-98-32222C>A (n.-98-32222C>A)
n.243C>A
n.4485C>A
n.4526C>A
 dbSNP gnomAD v4
17g.43082412_43082413delinsGACA2260777957BRCA1c.4348_4349delinsTC (p.Ser1450=)
c.4222_4223delinsTC (p.Ser1408=)
c.4342_4343delinsTC (p.Ser1448=)
c.4270_4271delinsTC (p.Ser1424=)
c.1036_1037delinsTC (p.Ser346=)
c.898_899delinsTC (p.Ser300=)
c.3460_3461delinsTC (p.Ser1154=)
c.4225_4226delinsTC (p.Ser1409=)
c.4207_4208delinsTC (p.Ser1403=)
c.913_914delinsTC (p.Ser305=)
c.958_959delinsTC (p.Ser320=)
c.669_670delinsTC
c.922_923delinsTC (p.Ser308=)
c.*4131_*4132delinsTC (n.*4131_*4132delinsTC)
c.642_643delinsTC
c.1039_1040delinsTC (p.Ser347=)
c.661_662delinsTC (p.Ser221=)
c.664_665delinsTC (p.Ser222=)
c.5-18462_5-18461delinsTC (n.5-18462_5-18461delinsTC)
c.-43-7892_-43-7891delinsTC (n.-43-7892_-43-7891delinsTC)
c.-98-32223_-98-32222delinsTC (n.-98-32223_-98-32222delinsTC)
n.242_243delinsTC
n.4484_4485delinsTC
n.4525_4526delinsTC
17g.43082413delCA645373145BRCA1c.4348del (p.Ser1450GlnfsTer5)
c.4348del (p.Ser1450GlnfsTer6)
c.4222del (p.Ser1408GlnfsTer6)
c.4342del (p.Ser1448GlnfsTer6)
c.4270del (p.Ser1424GlnfsTer6)
c.1036del (p.Ser346GlnfsTer6)
c.898del (p.Ser300GlnfsTer6)
c.3460del (p.Ser1154GlnfsTer6)
c.4225del (p.Ser1409GlnfsTer6)
c.4348del (p.Ser1450GlnfsTer28)
c.4207del (p.Ser1403GlnfsTer6)
c.913del (p.Ser305GlnfsTer5)
c.958del (p.Ser320GlnfsTer5)
c.4348del (p.Ser1450GlnfsTer27)
c.669del
c.922del (p.Ser308GlnfsTer6)
c.*4131del (n.*4131del)
c.642del
c.1039del (p.Ser347GlnfsTer5)
c.661del (p.Ser221GlnfsTer6)
c.664del (p.Ser222GlnfsTer6)
c.5-18462del (n.5-18462del)
c.-43-7892del (n.-43-7892del)
c.-98-32223del (n.-98-32223del)
n.242del
n.4484del
n.4525del
 ClinVar dbSNP
17g.43082413A=CA2581308736BRCA1c.4348T= (p.Ser1450=)
c.4222T= (p.Ser1408=)
c.4342T= (p.Ser1448=)
c.4270T= (p.Ser1424=)
c.1036T= (p.Ser346=)
c.898T= (p.Ser300=)
c.3460T= (p.Ser1154=)
c.4225T= (p.Ser1409=)
c.4207T= (p.Ser1403=)
c.913T= (p.Ser305=)
c.958T= (p.Ser320=)
c.669T=
c.922T= (p.Ser308=)
c.*4131T= (n.*4131T=)
c.642T=
c.1039T= (p.Ser347=)
c.661T= (p.Ser221=)
c.664T= (p.Ser222=)
c.5-18462T= (n.5-18462T=)
c.-43-7892T= (n.-43-7892T=)
c.-98-32223T= (n.-98-32223T=)
n.242T=
n.4484T=
n.4525T=
17g.43082413A>CCA10593026BRCA1c.4348T>G (p.Ser1450Ala)
c.4222T>G (p.Ser1408Ala)
c.4342T>G (p.Ser1448Ala)
c.4270T>G (p.Ser1424Ala)
c.1036T>G (p.Ser346Ala)
c.898T>G (p.Ser300Ala)
c.3460T>G (p.Ser1154Ala)
c.4225T>G (p.Ser1409Ala)
c.4207T>G (p.Ser1403Ala)
c.913T>G (p.Ser305Ala)
c.958T>G (p.Ser320Ala)
c.669T>G
c.922T>G (p.Ser308Ala)
c.*4131T>G (n.*4131T>G)
c.642T>G
c.1039T>G (p.Ser347Ala)
c.661T>G (p.Ser221Ala)
c.664T>G (p.Ser222Ala)
c.5-18462T>G (n.5-18462T>G)
c.-43-7892T>G (n.-43-7892T>G)
c.-98-32223T>G (n.-98-32223T>G)
n.242T>G
n.4484T>G
n.4525T>G
17g.43082413A>GCA10593027BRCA1c.4348T>C (p.Ser1450Pro)
c.4222T>C (p.Ser1408Pro)
c.4342T>C (p.Ser1448Pro)
c.4270T>C (p.Ser1424Pro)
c.1036T>C (p.Ser346Pro)
c.898T>C (p.Ser300Pro)
c.3460T>C (p.Ser1154Pro)
c.4225T>C (p.Ser1409Pro)
c.4207T>C (p.Ser1403Pro)
c.913T>C (p.Ser305Pro)
c.958T>C (p.Ser320Pro)
c.669T>C
c.922T>C (p.Ser308Pro)
c.*4131T>C (n.*4131T>C)
c.642T>C
c.1039T>C (p.Ser347Pro)
c.661T>C (p.Ser221Pro)
c.664T>C (p.Ser222Pro)
c.5-18462T>C (n.5-18462T>C)
c.-43-7892T>C (n.-43-7892T>C)
c.-98-32223T>C (n.-98-32223T>C)
n.242T>C
n.4484T>C
n.4525T>C
17g.43082413A>TCA10593028BRCA1c.4348T>A (p.Ser1450Thr)
c.4222T>A (p.Ser1408Thr)
c.4342T>A (p.Ser1448Thr)
c.4270T>A (p.Ser1424Thr)
c.1036T>A (p.Ser346Thr)
c.898T>A (p.Ser300Thr)
c.3460T>A (p.Ser1154Thr)
c.4225T>A (p.Ser1409Thr)
c.4207T>A (p.Ser1403Thr)
c.913T>A (p.Ser305Thr)
c.958T>A (p.Ser320Thr)
c.669T>A
c.922T>A (p.Ser308Thr)
c.*4131T>A (n.*4131T>A)
c.642T>A
c.1039T>A (p.Ser347Thr)
c.661T>A (p.Ser221Thr)
c.664T>A (p.Ser222Thr)
c.5-18462T>A (n.5-18462T>A)
c.-43-7892T>A (n.-43-7892T>A)
c.-98-32223T>A (n.-98-32223T>A)
n.242T>A
n.4484T>A
n.4525T>A
 dbSNP gnomAD v4
17g.43082413dupCA002781BRCA1c.4348dup (p.Ser1450PhefsTer11)
c.4348dup (p.Ser1450PhefsTer12)
c.4222dup (p.Ser1408PhefsTer12)
c.4342dup (p.Ser1448PhefsTer12)
c.4270dup (p.Ser1424PhefsTer12)
c.1036dup (p.Ser346PhefsTer12)
c.898dup (p.Ser300PhefsTer12)
c.3460dup (p.Ser1154PhefsTer12)
c.4225dup (p.Ser1409PhefsTer12)
c.4348dup (p.Ser1450PhefsTer18)
c.4207dup (p.Ser1403PhefsTer12)
c.913dup (p.Ser305PhefsTer11)
c.958dup (p.Ser320PhefsTer11)
c.669dup
c.922dup (p.Ser308PhefsTer12)
c.*4131dup (n.*4131dup)
c.642dup
c.1039dup (p.Ser347PhefsTer11)
c.661dup (p.Ser221PhefsTer12)
c.664dup (p.Ser222PhefsTer12)
c.5-18462dup (n.5-18462dup)
c.-43-7892dup (n.-43-7892dup)
c.-98-32223dup (n.-98-32223dup)
n.242dup
n.4484dup
n.4525dup
 ClinVar dbSNP
17g.43082414T>ACA500148348BRCA1c.4347A>T (p.Thr1449=)
c.4221A>T (p.Thr1407=)
c.4341A>T (p.Thr1447=)
c.4269A>T (p.Thr1423=)
c.1035A>T (p.Thr345=)
c.897A>T (p.Thr299=)
c.3459A>T (p.Thr1153=)
c.4224A>T (p.Thr1408=)
c.4206A>T (p.Thr1402=)
c.912A>T (p.Thr304=)
c.957A>T (p.Thr319=)
c.668A>T
c.921A>T (p.Thr307=)
c.*4130A>T (n.*4130A>T)
c.641A>T
c.1038A>T (p.Thr346=)
c.660A>T (p.Thr220=)
c.663A>T (p.Thr221=)
c.5-18463A>T (n.5-18463A>T)
c.-43-7893A>T (n.-43-7893A>T)
c.-98-32224A>T (n.-98-32224A>T)
n.241A>T
n.4483A>T
n.4524A>T
 dbSNP
17g.43082414T>CCA002780BRCA1c.4347A>G (p.Thr1449=)
c.4221A>G (p.Thr1407=)
c.4341A>G (p.Thr1447=)
c.4269A>G (p.Thr1423=)
c.1035A>G (p.Thr345=)
c.897A>G (p.Thr299=)
c.3459A>G (p.Thr1153=)
c.4224A>G (p.Thr1408=)
c.4206A>G (p.Thr1402=)
c.912A>G (p.Thr304=)
c.957A>G (p.Thr319=)
c.668A>G
c.921A>G (p.Thr307=)
c.*4130A>G (n.*4130A>G)
c.641A>G
c.1038A>G (p.Thr346=)
c.660A>G (p.Thr220=)
c.663A>G (p.Thr221=)
c.5-18463A>G (n.5-18463A>G)
c.-43-7893A>G (n.-43-7893A>G)
c.-98-32224A>G (n.-98-32224A>G)
n.241A>G
n.4483A>G
n.4524A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082414T>GCA500148349BRCA1c.4347A>C (p.Thr1449=)
c.4221A>C (p.Thr1407=)
c.4341A>C (p.Thr1447=)
c.4269A>C (p.Thr1423=)
c.1035A>C (p.Thr345=)
c.897A>C (p.Thr299=)
c.3459A>C (p.Thr1153=)
c.4224A>C (p.Thr1408=)
c.4206A>C (p.Thr1402=)
c.912A>C (p.Thr304=)
c.957A>C (p.Thr319=)
c.668A>C
c.921A>C (p.Thr307=)
c.*4130A>C (n.*4130A>C)
c.641A>C
c.1038A>C (p.Thr346=)
c.660A>C (p.Thr220=)
c.663A>C (p.Thr221=)
c.5-18463A>C (n.5-18463A>C)
c.-43-7893A>C (n.-43-7893A>C)
c.-98-32224A>C (n.-98-32224A>C)
n.241A>C
n.4483A>C
n.4524A>C
 gnomAD v4
17g.43082414T=CA2260777958BRCA1c.4347A= (p.Thr1449=)
c.4221A= (p.Thr1407=)
c.4341A= (p.Thr1447=)
c.4269A= (p.Thr1423=)
c.1035A= (p.Thr345=)
c.897A= (p.Thr299=)
c.3459A= (p.Thr1153=)
c.4224A= (p.Thr1408=)
c.4206A= (p.Thr1402=)
c.912A= (p.Thr304=)
c.957A= (p.Thr319=)
c.668A=
c.921A= (p.Thr307=)
c.*4130A= (n.*4130A=)
c.641A=
c.1038A= (p.Thr346=)
c.660A= (p.Thr220=)
c.663A= (p.Thr221=)
c.5-18463A= (n.5-18463A=)
c.-43-7893A= (n.-43-7893A=)
c.-98-32224A= (n.-98-32224A=)
n.241A=
n.4483A=
n.4524A=
17g.43082415G>ACA10593029BRCA1c.4346C>T (p.Thr1449Ile)
c.4220C>T (p.Thr1407Ile)
c.4340C>T (p.Thr1447Ile)
c.4268C>T (p.Thr1423Ile)
c.1034C>T (p.Thr345Ile)
c.896C>T (p.Thr299Ile)
c.3458C>T (p.Thr1153Ile)
c.4223C>T (p.Thr1408Ile)
c.4205C>T (p.Thr1402Ile)
c.911C>T (p.Thr304Ile)
c.956C>T (p.Thr319Ile)
c.667C>T
c.920C>T (p.Thr307Ile)
c.*4129C>T (n.*4129C>T)
c.640C>T
c.1037C>T (p.Thr346Ile)
c.659C>T (p.Thr220Ile)
c.662C>T (p.Thr221Ile)
c.5-18464C>T (n.5-18464C>T)
c.-43-7894C>T (n.-43-7894C>T)
c.-98-32225C>T (n.-98-32225C>T)
n.240C>T
n.4482C>T
n.4523C>T
 ClinVar dbSNP
17g.43082415G>CCA10593030BRCA1c.4346C>G (p.Thr1449Arg)
c.4220C>G (p.Thr1407Arg)
c.4340C>G (p.Thr1447Arg)
c.4268C>G (p.Thr1423Arg)
c.1034C>G (p.Thr345Arg)
c.896C>G (p.Thr299Arg)
c.3458C>G (p.Thr1153Arg)
c.4223C>G (p.Thr1408Arg)
c.4205C>G (p.Thr1402Arg)
c.911C>G (p.Thr304Arg)
c.956C>G (p.Thr319Arg)
c.667C>G
c.920C>G (p.Thr307Arg)
c.*4129C>G (n.*4129C>G)
c.640C>G
c.1037C>G (p.Thr346Arg)
c.659C>G (p.Thr220Arg)
c.662C>G (p.Thr221Arg)
c.5-18464C>G (n.5-18464C>G)
c.-43-7894C>G (n.-43-7894C>G)
c.-98-32225C>G (n.-98-32225C>G)
n.240C>G
n.4482C>G
n.4523C>G
 dbSNP
17g.43082415G>TCA10593031BRCA1c.4346C>A (p.Thr1449Lys)
c.4220C>A (p.Thr1407Lys)
c.4340C>A (p.Thr1447Lys)
c.4268C>A (p.Thr1423Lys)
c.1034C>A (p.Thr345Lys)
c.896C>A (p.Thr299Lys)
c.3458C>A (p.Thr1153Lys)
c.4223C>A (p.Thr1408Lys)
c.4205C>A (p.Thr1402Lys)
c.911C>A (p.Thr304Lys)
c.956C>A (p.Thr319Lys)
c.667C>A
c.920C>A (p.Thr307Lys)
c.*4129C>A (n.*4129C>A)
c.640C>A
c.1037C>A (p.Thr346Lys)
c.659C>A (p.Thr220Lys)
c.662C>A (p.Thr221Lys)
c.5-18464C>A (n.5-18464C>A)
c.-43-7894C>A (n.-43-7894C>A)
c.-98-32225C>A (n.-98-32225C>A)
n.240C>A
n.4482C>A
n.4523C>A
 gnomAD v4
17g.43082416T>ACA10593032BRCA1c.4345A>T (p.Thr1449Ser)
c.4219A>T (p.Thr1407Ser)
c.4339A>T (p.Thr1447Ser)
c.4267A>T (p.Thr1423Ser)
c.1033A>T (p.Thr345Ser)
c.895A>T (p.Thr299Ser)
c.3457A>T (p.Thr1153Ser)
c.4222A>T (p.Thr1408Ser)
c.4204A>T (p.Thr1402Ser)
c.910A>T (p.Thr304Ser)
c.955A>T (p.Thr319Ser)
c.666A>T
c.919A>T (p.Thr307Ser)
c.*4128A>T (n.*4128A>T)
c.639A>T
c.1036A>T (p.Thr346Ser)
c.658A>T (p.Thr220Ser)
c.661A>T (p.Thr221Ser)
c.5-18465A>T (n.5-18465A>T)
c.-43-7895A>T (n.-43-7895A>T)
c.-98-32226A>T (n.-98-32226A>T)
n.239A>T
n.4481A>T
n.4522A>T
 dbSNP
17g.43082416T>CCA10593033BRCA1c.4345A>G (p.Thr1449Ala)
c.4219A>G (p.Thr1407Ala)
c.4339A>G (p.Thr1447Ala)
c.4267A>G (p.Thr1423Ala)
c.1033A>G (p.Thr345Ala)
c.895A>G (p.Thr299Ala)
c.3457A>G (p.Thr1153Ala)
c.4222A>G (p.Thr1408Ala)
c.4204A>G (p.Thr1402Ala)
c.910A>G (p.Thr304Ala)
c.955A>G (p.Thr319Ala)
c.666A>G
c.919A>G (p.Thr307Ala)
c.*4128A>G (n.*4128A>G)
c.639A>G
c.1036A>G (p.Thr346Ala)
c.658A>G (p.Thr220Ala)
c.661A>G (p.Thr221Ala)
c.5-18465A>G (n.5-18465A>G)
c.-43-7895A>G (n.-43-7895A>G)
c.-98-32226A>G (n.-98-32226A>G)
n.239A>G
n.4481A>G
n.4522A>G
 dbSNP
17g.43082416T>GCA10593034BRCA1c.4345A>C (p.Thr1449Pro)
c.4219A>C (p.Thr1407Pro)
c.4339A>C (p.Thr1447Pro)
c.4267A>C (p.Thr1423Pro)
c.1033A>C (p.Thr345Pro)
c.895A>C (p.Thr299Pro)
c.3457A>C (p.Thr1153Pro)
c.4222A>C (p.Thr1408Pro)
c.4204A>C (p.Thr1402Pro)
c.910A>C (p.Thr304Pro)
c.955A>C (p.Thr319Pro)
c.666A>C
c.919A>C (p.Thr307Pro)
c.*4128A>C (n.*4128A>C)
c.639A>C
c.1036A>C (p.Thr346Pro)
c.658A>C (p.Thr220Pro)
c.661A>C (p.Thr221Pro)
c.5-18465A>C (n.5-18465A>C)
c.-43-7895A>C (n.-43-7895A>C)
c.-98-32226A>C (n.-98-32226A>C)
n.239A>C
n.4481A>C
n.4522A>C
 ClinVar dbSNP
17g.43082417G>ACA500148350BRCA1c.4344C>T (p.Ser1448=)
c.4218C>T (p.Ser1406=)
c.4338C>T (p.Ser1446=)
c.4266C>T (p.Ser1422=)
c.1032C>T (p.Ser344=)
c.894C>T (p.Ser298=)
c.3456C>T (p.Ser1152=)
c.4221C>T (p.Ser1407=)
c.4203C>T (p.Ser1401=)
c.909C>T (p.Ser303=)
c.954C>T (p.Ser318=)
c.665C>T
c.918C>T (p.Ser306=)
c.*4127C>T (n.*4127C>T)
c.638C>T
c.1035C>T (p.Ser345=)
c.657C>T (p.Ser219=)
c.660C>T (p.Ser220=)
c.5-18466C>T (n.5-18466C>T)
c.-43-7896C>T (n.-43-7896C>T)
c.-98-32227C>T (n.-98-32227C>T)
n.238C>T
n.4480C>T
n.4521C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082417G>CCA10593035BRCA1c.4344C>G (p.Ser1448Arg)
c.4218C>G (p.Ser1406Arg)
c.4338C>G (p.Ser1446Arg)
c.4266C>G (p.Ser1422Arg)
c.1032C>G (p.Ser344Arg)
c.894C>G (p.Ser298Arg)
c.3456C>G (p.Ser1152Arg)
c.4221C>G (p.Ser1407Arg)
c.4203C>G (p.Ser1401Arg)
c.909C>G (p.Ser303Arg)
c.954C>G (p.Ser318Arg)
c.665C>G
c.918C>G (p.Ser306Arg)
c.*4127C>G (n.*4127C>G)
c.638C>G
c.1035C>G (p.Ser345Arg)
c.657C>G (p.Ser219Arg)
c.660C>G (p.Ser220Arg)
c.5-18466C>G (n.5-18466C>G)
c.-43-7896C>G (n.-43-7896C>G)
c.-98-32227C>G (n.-98-32227C>G)
n.238C>G
n.4480C>G
n.4521C>G
 ClinVar dbSNP
17g.43082417G=CA2260777959BRCA1c.4344C= (p.Ser1448=)
c.4218C= (p.Ser1406=)
c.4338C= (p.Ser1446=)
c.4266C= (p.Ser1422=)
c.1032C= (p.Ser344=)
c.894C= (p.Ser298=)
c.3456C= (p.Ser1152=)
c.4221C= (p.Ser1407=)
c.4203C= (p.Ser1401=)
c.909C= (p.Ser303=)
c.954C= (p.Ser318=)
c.665C=
c.918C= (p.Ser306=)
c.*4127C= (n.*4127C=)
c.638C=
c.1035C= (p.Ser345=)
c.657C= (p.Ser219=)
c.660C= (p.Ser220=)
c.5-18466C= (n.5-18466C=)
c.-43-7896C= (n.-43-7896C=)
c.-98-32227C= (n.-98-32227C=)
n.238C=
n.4480C=
n.4521C=
17g.43082417G>TCA10593036BRCA1c.4344C>A (p.Ser1448Arg)
c.4218C>A (p.Ser1406Arg)
c.4338C>A (p.Ser1446Arg)
c.4266C>A (p.Ser1422Arg)
c.1032C>A (p.Ser344Arg)
c.894C>A (p.Ser298Arg)
c.3456C>A (p.Ser1152Arg)
c.4221C>A (p.Ser1407Arg)
c.4203C>A (p.Ser1401Arg)
c.909C>A (p.Ser303Arg)
c.954C>A (p.Ser318Arg)
c.665C>A
c.918C>A (p.Ser306Arg)
c.*4127C>A (n.*4127C>A)
c.638C>A
c.1035C>A (p.Ser345Arg)
c.657C>A (p.Ser219Arg)
c.660C>A (p.Ser220Arg)
c.5-18466C>A (n.5-18466C>A)
c.-43-7896C>A (n.-43-7896C>A)
c.-98-32227C>A (n.-98-32227C>A)
n.238C>A
n.4480C>A
n.4521C>A
 dbSNP gnomAD v4
17g.43082418delCA2499224421BRCA1c.4343del (p.Ser1448ThrfsTer7)
c.4343del (p.Ser1448ThrfsTer8)
c.4217del (p.Ser1406ThrfsTer8)
c.4337del (p.Ser1446ThrfsTer8)
c.4265del (p.Ser1422ThrfsTer8)
c.1031del (p.Ser344ThrfsTer8)
c.893del (p.Ser298ThrfsTer8)
c.3455del (p.Ser1152ThrfsTer8)
c.4220del (p.Ser1407ThrfsTer8)
c.4343del (p.Ser1448ThrfsTer30)
c.4202del (p.Ser1401ThrfsTer8)
c.908del (p.Ser303ThrfsTer7)
c.953del (p.Ser318ThrfsTer7)
c.4343del (p.Ser1448ThrfsTer29)
c.664del
c.917del (p.Ser306ThrfsTer8)
c.*4126del (n.*4126del)
c.637del
c.1034del (p.Ser345ThrfsTer7)
c.656del (p.Ser219ThrfsTer8)
c.659del (p.Ser220ThrfsTer8)
c.5-18467del (n.5-18467del)
c.-43-7897del (n.-43-7897del)
c.-98-32228del (n.-98-32228del)
n.237del
n.4479del
n.4520del
17g.43082418C>ACA10593037BRCA1c.4343G>T (p.Ser1448Ile)
c.4217G>T (p.Ser1406Ile)
c.4337G>T (p.Ser1446Ile)
c.4265G>T (p.Ser1422Ile)
c.1031G>T (p.Ser344Ile)
c.893G>T (p.Ser298Ile)
c.3455G>T (p.Ser1152Ile)
c.4220G>T (p.Ser1407Ile)
c.4202G>T (p.Ser1401Ile)
c.908G>T (p.Ser303Ile)
c.953G>T (p.Ser318Ile)
c.664G>T
c.917G>T (p.Ser306Ile)
c.*4126G>T (n.*4126G>T)
c.637G>T
c.1034G>T (p.Ser345Ile)
c.656G>T (p.Ser219Ile)
c.659G>T (p.Ser220Ile)
c.5-18467G>T (n.5-18467G>T)
c.-43-7897G>T (n.-43-7897G>T)
c.-98-32228G>T (n.-98-32228G>T)
n.237G>T
n.4479G>T
n.4520G>T
 dbSNP
17g.43082418C=CA2260777960BRCA1c.4343G= (p.Ser1448=)
c.4217G= (p.Ser1406=)
c.4337G= (p.Ser1446=)
c.4265G= (p.Ser1422=)
c.1031G= (p.Ser344=)
c.893G= (p.Ser298=)
c.3455G= (p.Ser1152=)
c.4220G= (p.Ser1407=)
c.4202G= (p.Ser1401=)
c.908G= (p.Ser303=)
c.953G= (p.Ser318=)
c.664G=
c.917G= (p.Ser306=)
c.*4126G= (n.*4126G=)
c.637G=
c.1034G= (p.Ser345=)
c.656G= (p.Ser219=)
c.659G= (p.Ser220=)
c.5-18467G= (n.5-18467G=)
c.-43-7897G= (n.-43-7897G=)
c.-98-32228G= (n.-98-32228G=)
n.237G=
n.4479G=
n.4520G=
17g.43082418C>GCA002778BRCA1c.4343G>C (p.Ser1448Thr)
c.4217G>C (p.Ser1406Thr)
c.4337G>C (p.Ser1446Thr)
c.4265G>C (p.Ser1422Thr)
c.1031G>C (p.Ser344Thr)
c.893G>C (p.Ser298Thr)
c.3455G>C (p.Ser1152Thr)
c.4220G>C (p.Ser1407Thr)
c.4202G>C (p.Ser1401Thr)
c.908G>C (p.Ser303Thr)
c.953G>C (p.Ser318Thr)
c.664G>C
c.917G>C (p.Ser306Thr)
c.*4126G>C (n.*4126G>C)
c.637G>C
c.1034G>C (p.Ser345Thr)
c.656G>C (p.Ser219Thr)
c.659G>C (p.Ser220Thr)
c.5-18467G>C (n.5-18467G>C)
c.-43-7897G>C (n.-43-7897G>C)
c.-98-32228G>C (n.-98-32228G>C)
n.237G>C
n.4479G>C
n.4520G>C
 ClinVar dbSNP
17g.43082418C>TCA002777BRCA1c.4343G>A (p.Ser1448Asn)
c.4217G>A (p.Ser1406Asn)
c.4337G>A (p.Ser1446Asn)
c.4265G>A (p.Ser1422Asn)
c.1031G>A (p.Ser344Asn)
c.893G>A (p.Ser298Asn)
c.3455G>A (p.Ser1152Asn)
c.4220G>A (p.Ser1407Asn)
c.4202G>A (p.Ser1401Asn)
c.908G>A (p.Ser303Asn)
c.953G>A (p.Ser318Asn)
c.664G>A
c.917G>A (p.Ser306Asn)
c.*4126G>A (n.*4126G>A)
c.637G>A
c.1034G>A (p.Ser345Asn)
c.656G>A (p.Ser219Asn)
c.659G>A (p.Ser220Asn)
c.5-18467G>A (n.5-18467G>A)
c.-43-7897G>A (n.-43-7897G>A)
c.-98-32228G>A (n.-98-32228G>A)
n.237G>A
n.4479G>A
n.4520G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082419T>ACA10593038BRCA1c.4342A>T (p.Ser1448Cys)
c.4216A>T (p.Ser1406Cys)
c.4336A>T (p.Ser1446Cys)
c.4264A>T (p.Ser1422Cys)
c.1030A>T (p.Ser344Cys)
c.892A>T (p.Ser298Cys)
c.3454A>T (p.Ser1152Cys)
c.4219A>T (p.Ser1407Cys)
c.4201A>T (p.Ser1401Cys)
c.907A>T (p.Ser303Cys)
c.952A>T (p.Ser318Cys)
c.663A>T
c.916A>T (p.Ser306Cys)
c.*4125A>T (n.*4125A>T)
c.636A>T
c.1033A>T (p.Ser345Cys)
c.655A>T (p.Ser219Cys)
c.658A>T (p.Ser220Cys)
c.5-18468A>T (n.5-18468A>T)
c.-43-7898A>T (n.-43-7898A>T)
c.-98-32229A>T (n.-98-32229A>T)
n.236A>T
n.4478A>T
n.4519A>T
 dbSNP
17g.43082419T>CCA002776BRCA1c.4342A>G (p.Ser1448Gly)
c.4216A>G (p.Ser1406Gly)
c.4336A>G (p.Ser1446Gly)
c.4264A>G (p.Ser1422Gly)
c.1030A>G (p.Ser344Gly)
c.892A>G (p.Ser298Gly)
c.3454A>G (p.Ser1152Gly)
c.4219A>G (p.Ser1407Gly)
c.4201A>G (p.Ser1401Gly)
c.907A>G (p.Ser303Gly)
c.952A>G (p.Ser318Gly)
c.663A>G
c.916A>G (p.Ser306Gly)
c.*4125A>G (n.*4125A>G)
c.636A>G
c.1033A>G (p.Ser345Gly)
c.655A>G (p.Ser219Gly)
c.658A>G (p.Ser220Gly)
c.5-18468A>G (n.5-18468A>G)
c.-43-7898A>G (n.-43-7898A>G)
c.-98-32229A>G (n.-98-32229A>G)
n.236A>G
n.4478A>G
n.4519A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082419T>GCA10593039BRCA1c.4342A>C (p.Ser1448Arg)
c.4216A>C (p.Ser1406Arg)
c.4336A>C (p.Ser1446Arg)
c.4264A>C (p.Ser1422Arg)
c.1030A>C (p.Ser344Arg)
c.892A>C (p.Ser298Arg)
c.3454A>C (p.Ser1152Arg)
c.4219A>C (p.Ser1407Arg)
c.4201A>C (p.Ser1401Arg)
c.907A>C (p.Ser303Arg)
c.952A>C (p.Ser318Arg)
c.663A>C
c.916A>C (p.Ser306Arg)
c.*4125A>C (n.*4125A>C)
c.636A>C
c.1033A>C (p.Ser345Arg)
c.655A>C (p.Ser219Arg)
c.658A>C (p.Ser220Arg)
c.5-18468A>C (n.5-18468A>C)
c.-43-7898A>C (n.-43-7898A>C)
c.-98-32229A>C (n.-98-32229A>C)
n.236A>C
n.4478A>C
n.4519A>C
17g.43082419T=CA2260777961BRCA1c.4342A= (p.Ser1448=)
c.4216A= (p.Ser1406=)
c.4336A= (p.Ser1446=)
c.4264A= (p.Ser1422=)
c.1030A= (p.Ser344=)
c.892A= (p.Ser298=)
c.3454A= (p.Ser1152=)
c.4219A= (p.Ser1407=)
c.4201A= (p.Ser1401=)
c.907A= (p.Ser303=)
c.952A= (p.Ser318=)
c.663A=
c.916A= (p.Ser306=)
c.*4125A= (n.*4125A=)
c.636A=
c.1033A= (p.Ser345=)
c.655A= (p.Ser219=)
c.658A= (p.Ser220=)
c.5-18468A= (n.5-18468A=)
c.-43-7898A= (n.-43-7898A=)
c.-98-32229A= (n.-98-32229A=)
n.236A=
n.4478A=
n.4519A=
17g.43082421dupCA10589669BRCA1c.4342dup (p.Ser1448LysfsTer13)
c.4342dup (p.Ser1448LysfsTer14)
c.4216dup (p.Ser1406LysfsTer14)
c.4336dup (p.Ser1446LysfsTer14)
c.4264dup (p.Ser1422LysfsTer14)
c.1030dup (p.Ser344LysfsTer14)
c.892dup (p.Ser298LysfsTer14)
c.3454dup (p.Ser1152LysfsTer14)
c.4219dup (p.Ser1407LysfsTer14)
c.4342dup (p.Ser1448LysfsTer20)
c.4201dup (p.Ser1401LysfsTer14)
c.907dup (p.Ser303LysfsTer13)
c.952dup (p.Ser318LysfsTer13)
c.663dup
c.916dup (p.Ser306LysfsTer14)
c.*4125dup (n.*4125dup)
c.636dup
c.1033dup (p.Ser345LysfsTer13)
c.655dup (p.Ser219LysfsTer14)
c.658dup (p.Ser220LysfsTer14)
c.5-18468dup (n.5-18468dup)
c.-43-7898dup (n.-43-7898dup)
c.-98-32229dup (n.-98-32229dup)
n.236dup
n.4478dup
n.4519dup
 ClinVar dbSNP
17g.43082421delCA1139768331BRCA1c.4342del (p.Ser1448AlafsTer7)
c.4342del (p.Ser1448AlafsTer8)
c.4216del (p.Ser1406AlafsTer8)
c.4336del (p.Ser1446AlafsTer8)
c.4264del (p.Ser1422AlafsTer8)
c.1030del (p.Ser344AlafsTer8)
c.892del (p.Ser298AlafsTer8)
c.3454del (p.Ser1152AlafsTer8)
c.4219del (p.Ser1407AlafsTer8)
c.4342del (p.Ser1448AlafsTer30)
c.4201del (p.Ser1401AlafsTer8)
c.907del (p.Ser303AlafsTer7)
c.952del (p.Ser318AlafsTer7)
c.4342del (p.Ser1448AlafsTer29)
c.663del
c.916del (p.Ser306AlafsTer8)
c.*4125del (n.*4125del)
c.636del
c.1033del (p.Ser345AlafsTer7)
c.655del (p.Ser219AlafsTer8)
c.658del (p.Ser220AlafsTer8)
c.5-18468del (n.5-18468del)
c.-43-7898del (n.-43-7898del)
c.-98-32229del (n.-98-32229del)
n.236del
n.4478del
n.4519del
 ClinVar dbSNP
17g.43082420T>ACA10593040BRCA1c.4341A>T (p.Gln1447His)
c.4215A>T (p.Gln1405His)
c.4335A>T (p.Gln1445His)
c.4263A>T (p.Gln1421His)
c.1029A>T (p.Gln343His)
c.891A>T (p.Gln297His)
c.3453A>T (p.Gln1151His)
c.4218A>T (p.Gln1406His)
c.4200A>T (p.Gln1400His)
c.906A>T (p.Gln302His)
c.951A>T (p.Gln317His)
c.662A>T
c.915A>T (p.Gln305His)
c.*4124A>T (n.*4124A>T)
c.635A>T
c.1032A>T (p.Gln344His)
c.654A>T (p.Gln218His)
c.657A>T (p.Gln219His)
c.5-18469A>T (n.5-18469A>T)
c.-43-7899A>T (n.-43-7899A>T)
c.-98-32230A>T (n.-98-32230A>T)
n.235A>T
n.4477A>T
n.4518A>T
17g.43082420T>CCA500148351BRCA1c.4341A>G (p.Gln1447=)
c.4215A>G (p.Gln1405=)
c.4335A>G (p.Gln1445=)
c.4263A>G (p.Gln1421=)
c.1029A>G (p.Gln343=)
c.891A>G (p.Gln297=)
c.3453A>G (p.Gln1151=)
c.4218A>G (p.Gln1406=)
c.4200A>G (p.Gln1400=)
c.906A>G (p.Gln302=)
c.951A>G (p.Gln317=)
c.662A>G
c.915A>G (p.Gln305=)
c.*4124A>G (n.*4124A>G)
c.635A>G
c.1032A>G (p.Gln344=)
c.654A>G (p.Gln218=)
c.657A>G (p.Gln219=)
c.5-18469A>G (n.5-18469A>G)
c.-43-7899A>G (n.-43-7899A>G)
c.-98-32230A>G (n.-98-32230A>G)
n.235A>G
n.4477A>G
n.4518A>G
 dbSNP
17g.43082420T>GCA10593041BRCA1c.4341A>C (p.Gln1447His)
c.4215A>C (p.Gln1405His)
c.4335A>C (p.Gln1445His)
c.4263A>C (p.Gln1421His)
c.1029A>C (p.Gln343His)
c.891A>C (p.Gln297His)
c.3453A>C (p.Gln1151His)
c.4218A>C (p.Gln1406His)
c.4200A>C (p.Gln1400His)
c.906A>C (p.Gln302His)
c.951A>C (p.Gln317His)
c.662A>C
c.915A>C (p.Gln305His)
c.*4124A>C (n.*4124A>C)
c.635A>C
c.1032A>C (p.Gln344His)
c.654A>C (p.Gln218His)
c.657A>C (p.Gln219His)
c.5-18469A>C (n.5-18469A>C)
c.-43-7899A>C (n.-43-7899A>C)
c.-98-32230A>C (n.-98-32230A>C)
n.235A>C
n.4477A>C
n.4518A>C
17g.43082420T=CA2260777962BRCA1c.4341A= (p.Gln1447=)
c.4215A= (p.Gln1405=)
c.4335A= (p.Gln1445=)
c.4263A= (p.Gln1421=)
c.1029A= (p.Gln343=)
c.891A= (p.Gln297=)
c.3453A= (p.Gln1151=)
c.4218A= (p.Gln1406=)
c.4200A= (p.Gln1400=)
c.906A= (p.Gln302=)
c.951A= (p.Gln317=)
c.662A=
c.915A= (p.Gln305=)
c.*4124A= (n.*4124A=)
c.635A=
c.1032A= (p.Gln344=)
c.654A= (p.Gln218=)
c.657A= (p.Gln219=)
c.5-18469A= (n.5-18469A=)
c.-43-7899A= (n.-43-7899A=)
c.-98-32230A= (n.-98-32230A=)
n.235A=
n.4477A=
n.4518A=
17g.43082421T>ACA10593042BRCA1c.4340A>T (p.Gln1447Leu)
c.4214A>T (p.Gln1405Leu)
c.4334A>T (p.Gln1445Leu)
c.4262A>T (p.Gln1421Leu)
c.1028A>T (p.Gln343Leu)
c.890A>T (p.Gln297Leu)
c.3452A>T (p.Gln1151Leu)
c.4217A>T (p.Gln1406Leu)
c.4199A>T (p.Gln1400Leu)
c.905A>T (p.Gln302Leu)
c.950A>T (p.Gln317Leu)
c.661A>T
c.914A>T (p.Gln305Leu)
c.*4123A>T (n.*4123A>T)
c.634A>T
c.1031A>T (p.Gln344Leu)
c.653A>T (p.Gln218Leu)
c.656A>T (p.Gln219Leu)
c.5-18470A>T (n.5-18470A>T)
c.-43-7900A>T (n.-43-7900A>T)
c.-98-32231A>T (n.-98-32231A>T)
n.234A>T
n.4476A>T
n.4517A>T
 dbSNP
17g.43082421T>CCA10593043BRCA1c.4340A>G (p.Gln1447Arg)
c.4214A>G (p.Gln1405Arg)
c.4334A>G (p.Gln1445Arg)
c.4262A>G (p.Gln1421Arg)
c.1028A>G (p.Gln343Arg)
c.890A>G (p.Gln297Arg)
c.3452A>G (p.Gln1151Arg)
c.4217A>G (p.Gln1406Arg)
c.4199A>G (p.Gln1400Arg)
c.905A>G (p.Gln302Arg)
c.950A>G (p.Gln317Arg)
c.661A>G
c.914A>G (p.Gln305Arg)
c.*4123A>G (n.*4123A>G)
c.634A>G
c.1031A>G (p.Gln344Arg)
c.653A>G (p.Gln218Arg)
c.656A>G (p.Gln219Arg)
c.5-18470A>G (n.5-18470A>G)
c.-43-7900A>G (n.-43-7900A>G)
c.-98-32231A>G (n.-98-32231A>G)
n.234A>G
n.4476A>G
n.4517A>G
17g.43082421T>GCA10593044BRCA1c.4340A>C (p.Gln1447Pro)
c.4214A>C (p.Gln1405Pro)
c.4334A>C (p.Gln1445Pro)
c.4262A>C (p.Gln1421Pro)
c.1028A>C (p.Gln343Pro)
c.890A>C (p.Gln297Pro)
c.3452A>C (p.Gln1151Pro)
c.4217A>C (p.Gln1406Pro)
c.4199A>C (p.Gln1400Pro)
c.905A>C (p.Gln302Pro)
c.950A>C (p.Gln317Pro)
c.661A>C
c.914A>C (p.Gln305Pro)
c.*4123A>C (n.*4123A>C)
c.634A>C
c.1031A>C (p.Gln344Pro)
c.653A>C (p.Gln218Pro)
c.656A>C (p.Gln219Pro)
c.5-18470A>C (n.5-18470A>C)
c.-43-7900A>C (n.-43-7900A>C)
c.-98-32231A>C (n.-98-32231A>C)
n.234A>C
n.4476A>C
n.4517A>C
17g.43082421_43082422insTTCTCA919844474BRCA1c.4340_4341insGAAA (p.Ser1448LysfsTer14)
c.4340_4341insGAAA (p.Ser1448LysfsTer15)
c.4214_4215insGAAA (p.Ser1406LysfsTer15)
c.4334_4335insGAAA (p.Ser1446LysfsTer15)
c.4262_4263insGAAA (p.Ser1422LysfsTer15)
c.1028_1029insGAAA (p.Ser344LysfsTer15)
c.890_891insGAAA (p.Ser298LysfsTer15)
c.3452_3453insGAAA (p.Ser1152LysfsTer15)
c.4217_4218insGAAA (p.Ser1407LysfsTer15)
c.4340_4341insGAAA (p.Ser1448LysfsTer21)
c.4199_4200insGAAA (p.Ser1401LysfsTer15)
c.905_906insGAAA (p.Ser303LysfsTer14)
c.950_951insGAAA (p.Ser318LysfsTer14)
c.661_662insGAAA
c.914_915insGAAA (p.Ser306LysfsTer15)
c.*4123_*4124insGAAA (n.*4123_*4124insGAAA)
c.634_635insGAAA
c.1031_1032insGAAA (p.Ser345LysfsTer14)
c.653_654insGAAA (p.Ser219LysfsTer15)
c.656_657insGAAA (p.Ser220LysfsTer15)
c.5-18470_5-18469insGAAA (n.5-18470_5-18469insGAAA)
c.-43-7900_-43-7899insGAAA (n.-43-7900_-43-7899insGAAA)
c.-98-32231_-98-32230insGAAA (n.-98-32231_-98-32230insGAAA)
n.234_235insGAAA
n.4476_4477insGAAA
n.4517_4518insGAAA
 dbSNP
17g.43082421_43082422insTTTCCA2695225932BRCA1c.4339_4340insGAAA (p.Gln1447ArgfsTer15)
c.4339_4340insGAAA (p.Gln1447ArgfsTer16)
c.4213_4214insGAAA (p.Gln1405ArgfsTer16)
c.4333_4334insGAAA (p.Gln1445ArgfsTer16)
c.4261_4262insGAAA (p.Gln1421ArgfsTer16)
c.1027_1028insGAAA (p.Gln343ArgfsTer16)
c.889_890insGAAA (p.Gln297ArgfsTer16)
c.3451_3452insGAAA (p.Gln1151ArgfsTer16)
c.4216_4217insGAAA (p.Gln1406ArgfsTer16)
c.4339_4340insGAAA (p.Gln1447ArgfsTer22)
c.4198_4199insGAAA (p.Gln1400ArgfsTer16)
c.904_905insGAAA (p.Gln302ArgfsTer15)
c.949_950insGAAA (p.Gln317ArgfsTer15)
c.660_661insGAAA
c.913_914insGAAA (p.Gln305ArgfsTer16)
c.*4122_*4123insGAAA (n.*4122_*4123insGAAA)
c.633_634insGAAA
c.1030_1031insGAAA (p.Gln344ArgfsTer15)
c.652_653insGAAA (p.Gln218ArgfsTer16)
c.655_656insGAAA (p.Gln219ArgfsTer16)
c.5-18471_5-18470insGAAA (n.5-18471_5-18470insGAAA)
c.-43-7901_-43-7900insGAAA (n.-43-7901_-43-7900insGAAA)
c.-98-32232_-98-32231insGAAA (n.-98-32232_-98-32231insGAAA)
n.233_234insGAAA
n.4475_4476insGAAA
n.4516_4517insGAAA
17g.43082422G>ACA002775BRCA1c.4339C>T (p.Gln1447Ter)
c.4213C>T (p.Gln1405Ter)
c.4333C>T (p.Gln1445Ter)
c.4261C>T (p.Gln1421Ter)
c.1027C>T (p.Gln343Ter)
c.889C>T (p.Gln297Ter)
c.3451C>T (p.Gln1151Ter)
c.4216C>T (p.Gln1406Ter)
c.4198C>T (p.Gln1400Ter)
c.904C>T (p.Gln302Ter)
c.949C>T (p.Gln317Ter)
c.660C>T
c.913C>T (p.Gln305Ter)
c.*4122C>T (n.*4122C>T)
c.633C>T
c.1030C>T (p.Gln344Ter)
c.652C>T (p.Gln218Ter)
c.655C>T (p.Gln219Ter)
c.5-18471C>T (n.5-18471C>T)
c.-43-7901C>T (n.-43-7901C>T)
c.-98-32232C>T (n.-98-32232C>T)
n.233C>T
n.4475C>T
n.4516C>T
 ClinVar dbSNP
17g.43082422G>CCA10593045BRCA1c.4339C>G (p.Gln1447Glu)
c.4213C>G (p.Gln1405Glu)
c.4333C>G (p.Gln1445Glu)
c.4261C>G (p.Gln1421Glu)
c.1027C>G (p.Gln343Glu)
c.889C>G (p.Gln297Glu)
c.3451C>G (p.Gln1151Glu)
c.4216C>G (p.Gln1406Glu)
c.4198C>G (p.Gln1400Glu)
c.904C>G (p.Gln302Glu)
c.949C>G (p.Gln317Glu)
c.660C>G
c.913C>G (p.Gln305Glu)
c.*4122C>G (n.*4122C>G)
c.633C>G
c.1030C>G (p.Gln344Glu)
c.652C>G (p.Gln218Glu)
c.655C>G (p.Gln219Glu)
c.5-18471C>G (n.5-18471C>G)
c.-43-7901C>G (n.-43-7901C>G)
c.-98-32232C>G (n.-98-32232C>G)
n.233C>G
n.4475C>G
n.4516C>G
 dbSNP
17g.43082422G=CA2260777963BRCA1c.4339C= (p.Gln1447=)
c.4213C= (p.Gln1405=)
c.4333C= (p.Gln1445=)
c.4261C= (p.Gln1421=)
c.1027C= (p.Gln343=)
c.889C= (p.Gln297=)
c.3451C= (p.Gln1151=)
c.4216C= (p.Gln1406=)
c.4198C= (p.Gln1400=)
c.904C= (p.Gln302=)
c.949C= (p.Gln317=)
c.660C=
c.913C= (p.Gln305=)
c.*4122C= (n.*4122C=)
c.633C=
c.1030C= (p.Gln344=)
c.652C= (p.Gln218=)
c.655C= (p.Gln219=)
c.5-18471C= (n.5-18471C=)
c.-43-7901C= (n.-43-7901C=)
c.-98-32232C= (n.-98-32232C=)
n.233C=
n.4475C=
n.4516C=
17g.43082422G>TCA002774BRCA1c.4339C>A (p.Gln1447Lys)
c.4213C>A (p.Gln1405Lys)
c.4333C>A (p.Gln1445Lys)
c.4261C>A (p.Gln1421Lys)
c.1027C>A (p.Gln343Lys)
c.889C>A (p.Gln297Lys)
c.3451C>A (p.Gln1151Lys)
c.4216C>A (p.Gln1406Lys)
c.4198C>A (p.Gln1400Lys)
c.904C>A (p.Gln302Lys)
c.949C>A (p.Gln317Lys)
c.660C>A
c.913C>A (p.Gln305Lys)
c.*4122C>A (n.*4122C>A)
c.633C>A
c.1030C>A (p.Gln344Lys)
c.652C>A (p.Gln218Lys)
c.655C>A (p.Gln219Lys)
c.5-18471C>A (n.5-18471C>A)
c.-43-7901C>A (n.-43-7901C>A)
c.-98-32232C>A (n.-98-32232C>A)
n.233C>A
n.4475C>A
n.4516C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082422_43082425delCA2809539475BRCA1c.4336_4339del (p.Glu1446LysfsTer8)
c.4336_4339del (p.Glu1446LysfsTer9)
c.4210_4213del (p.Glu1404LysfsTer9)
c.4330_4333del (p.Glu1444LysfsTer9)
c.4258_4261del (p.Glu1420LysfsTer9)
c.1024_1027del (p.Glu342LysfsTer9)
c.886_889del (p.Glu296LysfsTer9)
c.3448_3451del (p.Glu1150LysfsTer9)
c.4213_4216del (p.Glu1405LysfsTer9)
c.4336_4339del (p.Glu1446LysfsTer?)
c.4195_4198del (p.Glu1399LysfsTer9)
c.901_904del (p.Glu301LysfsTer8)
c.946_949del (p.Glu316LysfsTer8)
c.4336_4339del (p.Glu1446LysfsTer30)
c.657_660del
c.910_913del (p.Glu304LysfsTer9)
c.*4119_*4122del (n.*4119_*4122del)
c.630_633del
c.1027_1030del (p.Glu343LysfsTer8)
c.649_652del (p.Glu217LysfsTer9)
c.652_655del (p.Glu218LysfsTer9)
c.5-18474_5-18471del (n.5-18474_5-18471del)
c.-43-7904_-43-7901del (n.-43-7904_-43-7901del)
c.-98-32235_-98-32232del (n.-98-32235_-98-32232del)
n.230_233del
n.4472_4475del
n.4513_4516del
17g.43082422_43082430delinsGTTCTGGATCA2260777964BRCA1c.4331_4339delinsATCCAGAAC (p.Asn1444=)
c.4205_4213delinsATCCAGAAC (p.Asn1402=)
c.4325_4333delinsATCCAGAAC (p.Asn1442=)
c.4253_4261delinsATCCAGAAC (p.Asn1418=)
c.1019_1027delinsATCCAGAAC (p.Asn340=)
c.881_889delinsATCCAGAAC (p.Asn294=)
c.3443_3451delinsATCCAGAAC (p.Asn1148=)
c.4208_4216delinsATCCAGAAC (p.Asn1403=)
c.4190_4198delinsATCCAGAAC (p.Asn1397=)
c.896_904delinsATCCAGAAC (p.Asn299=)
c.941_949delinsATCCAGAAC (p.Asn314=)
c.652_660delinsATCCAGAAC
c.905_913delinsATCCAGAAC (p.Asn302=)
c.*4114_*4122delinsATCCAGAAC (n.*4114_*4122delinsATCCAGAAC)
c.625_633delinsATCCAGAAC
c.1022_1030delinsATCCAGAAC (p.Asn341=)
c.644_652delinsATCCAGAAC (p.Asn215=)
c.647_655delinsATCCAGAAC (p.Asn216=)
c.5-18479_5-18471delinsATCCAGAAC (n.5-18479_5-18471delinsATCCAGAAC)
c.-43-7909_-43-7901delinsATCCAGAAC (n.-43-7909_-43-7901delinsATCCAGAAC)
c.-98-32240_-98-32232delinsATCCAGAAC (n.-98-32240_-98-32232delinsATCCAGAAC)
n.225_233delinsATCCAGAAC
n.4467_4475delinsATCCAGAAC
n.4508_4516delinsATCCAGAAC
17g.43082423T>ACA10593046BRCA1c.4338A>T (p.Glu1446Asp)
c.4212A>T (p.Glu1404Asp)
c.4332A>T (p.Glu1444Asp)
c.4260A>T (p.Glu1420Asp)
c.1026A>T (p.Glu342Asp)
c.888A>T (p.Glu296Asp)
c.3450A>T (p.Glu1150Asp)
c.4215A>T (p.Glu1405Asp)
c.4197A>T (p.Glu1399Asp)
c.903A>T (p.Glu301Asp)
c.948A>T (p.Glu316Asp)
c.659A>T
c.912A>T (p.Glu304Asp)
c.*4121A>T (n.*4121A>T)
c.632A>T
c.1029A>T (p.Glu343Asp)
c.651A>T (p.Glu217Asp)
c.654A>T (p.Glu218Asp)
c.5-18472A>T (n.5-18472A>T)
c.-43-7902A>T (n.-43-7902A>T)
c.-98-32233A>T (n.-98-32233A>T)
n.232A>T
n.4474A>T
n.4515A>T
 ClinVar dbSNP
17g.43082423T>CCA500148352BRCA1c.4338A>G (p.Glu1446=)
c.4212A>G (p.Glu1404=)
c.4332A>G (p.Glu1444=)
c.4260A>G (p.Glu1420=)
c.1026A>G (p.Glu342=)
c.888A>G (p.Glu296=)
c.3450A>G (p.Glu1150=)
c.4215A>G (p.Glu1405=)
c.4197A>G (p.Glu1399=)
c.903A>G (p.Glu301=)
c.948A>G (p.Glu316=)
c.659A>G
c.912A>G (p.Glu304=)
c.*4121A>G (n.*4121A>G)
c.632A>G
c.1029A>G (p.Glu343=)
c.651A>G (p.Glu217=)
c.654A>G (p.Glu218=)
c.5-18472A>G (n.5-18472A>G)
c.-43-7902A>G (n.-43-7902A>G)
c.-98-32233A>G (n.-98-32233A>G)
n.232A>G
n.4474A>G
n.4515A>G
 ClinVar dbSNP gnomAD v4
17g.43082423T>GCA10593047BRCA1c.4338A>C (p.Glu1446Asp)
c.4212A>C (p.Glu1404Asp)
c.4332A>C (p.Glu1444Asp)
c.4260A>C (p.Glu1420Asp)
c.1026A>C (p.Glu342Asp)
c.888A>C (p.Glu296Asp)
c.3450A>C (p.Glu1150Asp)
c.4215A>C (p.Glu1405Asp)
c.4197A>C (p.Glu1399Asp)
c.903A>C (p.Glu301Asp)
c.948A>C (p.Glu316Asp)
c.659A>C
c.912A>C (p.Glu304Asp)
c.*4121A>C (n.*4121A>C)
c.632A>C
c.1029A>C (p.Glu343Asp)
c.651A>C (p.Glu217Asp)
c.654A>C (p.Glu218Asp)
c.5-18472A>C (n.5-18472A>C)
c.-43-7902A>C (n.-43-7902A>C)
c.-98-32233A>C (n.-98-32233A>C)
n.232A>C
n.4474A>C
n.4515A>C
 dbSNP
17g.43082423T=CA2260777965BRCA1c.4338A= (p.Glu1446=)
c.4212A= (p.Glu1404=)
c.4332A= (p.Glu1444=)
c.4260A= (p.Glu1420=)
c.1026A= (p.Glu342=)
c.888A= (p.Glu296=)
c.3450A= (p.Glu1150=)
c.4215A= (p.Glu1405=)
c.4197A= (p.Glu1399=)
c.903A= (p.Glu301=)
c.948A= (p.Glu316=)
c.659A=
c.912A= (p.Glu304=)
c.*4121A= (n.*4121A=)
c.632A=
c.1029A= (p.Glu343=)
c.651A= (p.Glu217=)
c.654A= (p.Glu218=)
c.5-18472A= (n.5-18472A=)
c.-43-7902A= (n.-43-7902A=)
c.-98-32233A= (n.-98-32233A=)
n.232A=
n.4474A=
n.4515A=
17g.43082424_43082425insGATTCA2695225934BRCA1c.4338_4339insTCAA (p.Gln1447SerfsTer15)
c.4338_4339insTCAA (p.Gln1447SerfsTer16)
c.4212_4213insTCAA (p.Gln1405SerfsTer16)
c.4332_4333insTCAA (p.Gln1445SerfsTer16)
c.4260_4261insTCAA (p.Gln1421SerfsTer16)
c.1026_1027insTCAA (p.Gln343SerfsTer16)
c.888_889insTCAA (p.Gln297SerfsTer16)
c.3450_3451insTCAA (p.Gln1151SerfsTer16)
c.4215_4216insTCAA (p.Gln1406SerfsTer16)
c.4338_4339insTCAA (p.Gln1447SerfsTer22)
c.4197_4198insTCAA (p.Gln1400SerfsTer16)
c.903_904insTCAA (p.Gln302SerfsTer15)
c.948_949insTCAA (p.Gln317SerfsTer15)
c.659_660insTCAA
c.912_913insTCAA (p.Gln305SerfsTer16)
c.*4121_*4122insTCAA (n.*4121_*4122insTCAA)
c.632_633insTCAA
c.1029_1030insTCAA (p.Gln344SerfsTer15)
c.651_652insTCAA (p.Gln218SerfsTer16)
c.654_655insTCAA (p.Gln219SerfsTer16)
c.5-18472_5-18471insTCAA (n.5-18472_5-18471insTCAA)
c.-43-7902_-43-7901insTCAA (n.-43-7902_-43-7901insTCAA)
c.-98-32233_-98-32232insTCAA (n.-98-32233_-98-32232insTCAA)
n.232_233insTCAA
n.4474_4475insTCAA
n.4515_4516insTCAA
17g.43082424delCA2695225933BRCA1c.4338del (p.Glu1446AspfsTer9)
c.4338del (p.Glu1446AspfsTer10)
c.4212del (p.Glu1404AspfsTer10)
c.4332del (p.Glu1444AspfsTer10)
c.4260del (p.Glu1420AspfsTer10)
c.1026del (p.Glu342AspfsTer10)
c.888del (p.Glu296AspfsTer10)
c.3450del (p.Glu1150AspfsTer10)
c.4215del (p.Glu1405AspfsTer10)
c.4338del (p.Glu1446AspfsTer?)
c.4197del (p.Glu1399AspfsTer10)
c.903del (p.Glu301AspfsTer9)
c.948del (p.Glu316AspfsTer9)
c.659del
c.912del (p.Glu304AspfsTer10)
c.*4121del (n.*4121del)
c.632del
c.1029del (p.Glu343AspfsTer9)
c.651del (p.Glu217AspfsTer10)
c.654del (p.Glu218AspfsTer10)
c.5-18472del (n.5-18472del)
c.-43-7902del (n.-43-7902del)
c.-98-32233del (n.-98-32233del)
n.232del
n.4474del
n.4515del
17g.43082423_43082426dupCA198447BRCA1c.4335_4338dup (p.Gln1447ArgfsTer15)
c.4335_4338dup (p.Gln1447ArgfsTer16)
c.4209_4212dup (p.Gln1405ArgfsTer16)
c.4329_4332dup (p.Gln1445ArgfsTer16)
c.4257_4260dup (p.Gln1421ArgfsTer16)
c.1023_1026dup (p.Gln343ArgfsTer16)
c.885_888dup (p.Gln297ArgfsTer16)
c.3447_3450dup (p.Gln1151ArgfsTer16)
c.4212_4215dup (p.Gln1406ArgfsTer16)
c.4335_4338dup (p.Gln1447ArgfsTer22)
c.4194_4197dup (p.Gln1400ArgfsTer16)
c.900_903dup (p.Gln302ArgfsTer15)
c.945_948dup (p.Gln317ArgfsTer15)
c.656_659dup
c.909_912dup (p.Gln305ArgfsTer16)
c.*4118_*4121dup (n.*4118_*4121dup)
c.629_632dup
c.1026_1029dup (p.Gln344ArgfsTer15)
c.648_651dup (p.Gln218ArgfsTer16)
c.651_654dup (p.Gln219ArgfsTer16)
c.5-18475_5-18472dup (n.5-18475_5-18472dup)
c.-43-7905_-43-7902dup (n.-43-7905_-43-7902dup)
c.-98-32236_-98-32233dup (n.-98-32236_-98-32233dup)
n.229_232dup
n.4471_4474dup
n.4512_4515dup
 ClinVar dbSNP
17g.43082426_43082433delCA002773BRCA1c.4331_4338del (p.Asn1444ThrfsTer14)
c.4331_4338del (p.Asn1444ThrfsTer15)
c.4205_4212del (p.Asn1402ThrfsTer15)
c.4325_4332del (p.Asn1442ThrfsTer15)
c.4253_4260del (p.Asn1418ThrfsTer15)
c.1019_1026del (p.Asn340ThrfsTer15)
c.881_888del (p.Asn294ThrfsTer15)
c.3443_3450del (p.Asn1148ThrfsTer15)
c.4208_4215del (p.Asn1403ThrfsTer15)
c.4331_4338del (p.Asn1444ThrfsTer21)
c.4190_4197del (p.Asn1397ThrfsTer15)
c.896_903del (p.Asn299ThrfsTer14)
c.941_948del (p.Asn314ThrfsTer14)
c.652_659del
c.905_912del (p.Asn302ThrfsTer15)
c.*4114_*4121del (n.*4114_*4121del)
c.625_632del
c.1022_1029del (p.Asn341ThrfsTer14)
c.644_651del (p.Asn215ThrfsTer15)
c.647_654del (p.Asn216ThrfsTer15)
c.5-18479_5-18472del (n.5-18479_5-18472del)
c.-43-7909_-43-7902del (n.-43-7909_-43-7902del)
c.-98-32240_-98-32233del (n.-98-32240_-98-32233del)
n.225_232del
n.4467_4474del
n.4508_4515del
 ClinVar dbSNP
17g.43082424T>ACA10593048BRCA1c.4337A>T (p.Glu1446Val)
c.4211A>T (p.Glu1404Val)
c.4331A>T (p.Glu1444Val)
c.4259A>T (p.Glu1420Val)
c.1025A>T (p.Glu342Val)
c.887A>T (p.Glu296Val)
c.3449A>T (p.Glu1150Val)
c.4214A>T (p.Glu1405Val)
c.4196A>T (p.Glu1399Val)
c.902A>T (p.Glu301Val)
c.947A>T (p.Glu316Val)
c.658A>T
c.911A>T (p.Glu304Val)
c.*4120A>T (n.*4120A>T)
c.631A>T
c.1028A>T (p.Glu343Val)
c.650A>T (p.Glu217Val)
c.653A>T (p.Glu218Val)
c.5-18473A>T (n.5-18473A>T)
c.-43-7903A>T (n.-43-7903A>T)
c.-98-32234A>T (n.-98-32234A>T)
n.231A>T
n.4473A>T
n.4514A>T
 dbSNP gnomAD v2 gnomAD v4
17g.43082424T>CCA10593049BRCA1c.4337A>G (p.Glu1446Gly)
c.4211A>G (p.Glu1404Gly)
c.4331A>G (p.Glu1444Gly)
c.4259A>G (p.Glu1420Gly)
c.1025A>G (p.Glu342Gly)
c.887A>G (p.Glu296Gly)
c.3449A>G (p.Glu1150Gly)
c.4214A>G (p.Glu1405Gly)
c.4196A>G (p.Glu1399Gly)
c.902A>G (p.Glu301Gly)
c.947A>G (p.Glu316Gly)
c.658A>G
c.911A>G (p.Glu304Gly)
c.*4120A>G (n.*4120A>G)
c.631A>G
c.1028A>G (p.Glu343Gly)
c.650A>G (p.Glu217Gly)
c.653A>G (p.Glu218Gly)
c.5-18473A>G (n.5-18473A>G)
c.-43-7903A>G (n.-43-7903A>G)
c.-98-32234A>G (n.-98-32234A>G)
n.231A>G
n.4473A>G
n.4514A>G
 ClinVar dbSNP gnomAD v4
17g.43082424T>GCA10593050BRCA1c.4337A>C (p.Glu1446Ala)
c.4211A>C (p.Glu1404Ala)
c.4331A>C (p.Glu1444Ala)
c.4259A>C (p.Glu1420Ala)
c.1025A>C (p.Glu342Ala)
c.887A>C (p.Glu296Ala)
c.3449A>C (p.Glu1150Ala)
c.4214A>C (p.Glu1405Ala)
c.4196A>C (p.Glu1399Ala)
c.902A>C (p.Glu301Ala)
c.947A>C (p.Glu316Ala)
c.658A>C
c.911A>C (p.Glu304Ala)
c.*4120A>C (n.*4120A>C)
c.631A>C
c.1028A>C (p.Glu343Ala)
c.650A>C (p.Glu217Ala)
c.653A>C (p.Glu218Ala)
c.5-18473A>C (n.5-18473A>C)
c.-43-7903A>C (n.-43-7903A>C)
c.-98-32234A>C (n.-98-32234A>C)
n.231A>C
n.4473A>C
n.4514A>C
 ClinVar dbSNP
17g.43082424T=CA2260777966BRCA1c.4337A= (p.Glu1446=)
c.4211A= (p.Glu1404=)
c.4331A= (p.Glu1444=)
c.4259A= (p.Glu1420=)
c.1025A= (p.Glu342=)
c.887A= (p.Glu296=)
c.3449A= (p.Glu1150=)
c.4214A= (p.Glu1405=)
c.4196A= (p.Glu1399=)
c.902A= (p.Glu301=)
c.947A= (p.Glu316=)
c.658A=
c.911A= (p.Glu304=)
c.*4120A= (n.*4120A=)
c.631A=
c.1028A= (p.Glu343=)
c.650A= (p.Glu217=)
c.653A= (p.Glu218=)
c.5-18473A= (n.5-18473A=)
c.-43-7903A= (n.-43-7903A=)
c.-98-32234A= (n.-98-32234A=)
n.231A=
n.4473A=
n.4514A=
17g.43082425C>ACA10593051BRCA1c.4336G>T (p.Glu1446Ter)
c.4210G>T (p.Glu1404Ter)
c.4330G>T (p.Glu1444Ter)
c.4258G>T (p.Glu1420Ter)
c.1024G>T (p.Glu342Ter)
c.886G>T (p.Glu296Ter)
c.3448G>T (p.Glu1150Ter)
c.4213G>T (p.Glu1405Ter)
c.4195G>T (p.Glu1399Ter)
c.901G>T (p.Glu301Ter)
c.946G>T (p.Glu316Ter)
c.657G>T
c.910G>T (p.Glu304Ter)
c.*4119G>T (n.*4119G>T)
c.630G>T
c.1027G>T (p.Glu343Ter)
c.649G>T (p.Glu217Ter)
c.652G>T (p.Glu218Ter)
c.5-18474G>T (n.5-18474G>T)
c.-43-7904G>T (n.-43-7904G>T)
c.-98-32235G>T (n.-98-32235G>T)
n.230G>T
n.4472G>T
n.4513G>T
 ClinVar dbSNP
17g.43082425C>GCA10593052BRCA1c.4336G>C (p.Glu1446Gln)
c.4210G>C (p.Glu1404Gln)
c.4330G>C (p.Glu1444Gln)
c.4258G>C (p.Glu1420Gln)
c.1024G>C (p.Glu342Gln)
c.886G>C (p.Glu296Gln)
c.3448G>C (p.Glu1150Gln)
c.4213G>C (p.Glu1405Gln)
c.4195G>C (p.Glu1399Gln)
c.901G>C (p.Glu301Gln)
c.946G>C (p.Glu316Gln)
c.657G>C
c.910G>C (p.Glu304Gln)
c.*4119G>C (n.*4119G>C)
c.630G>C
c.1027G>C (p.Glu343Gln)
c.649G>C (p.Glu217Gln)
c.652G>C (p.Glu218Gln)
c.5-18474G>C (n.5-18474G>C)
c.-43-7904G>C (n.-43-7904G>C)
c.-98-32235G>C (n.-98-32235G>C)
n.230G>C
n.4472G>C
n.4513G>C
 dbSNP
17g.43082425C>TCA10593053BRCA1c.4336G>A (p.Glu1446Lys)
c.4210G>A (p.Glu1404Lys)
c.4330G>A (p.Glu1444Lys)
c.4258G>A (p.Glu1420Lys)
c.1024G>A (p.Glu342Lys)
c.886G>A (p.Glu296Lys)
c.3448G>A (p.Glu1150Lys)
c.4213G>A (p.Glu1405Lys)
c.4195G>A (p.Glu1399Lys)
c.901G>A (p.Glu301Lys)
c.946G>A (p.Glu316Lys)
c.657G>A
c.910G>A (p.Glu304Lys)
c.*4119G>A (n.*4119G>A)
c.630G>A
c.1027G>A (p.Glu343Lys)
c.649G>A (p.Glu217Lys)
c.652G>A (p.Glu218Lys)
c.5-18474G>A (n.5-18474G>A)
c.-43-7904G>A (n.-43-7904G>A)
c.-98-32235G>A (n.-98-32235G>A)
n.230G>A
n.4472G>A
n.4513G>A
 dbSNP
17g.43082426T>ACA500148353BRCA1c.4335A>T (p.Pro1445=)
c.4209A>T (p.Pro1403=)
c.4329A>T (p.Pro1443=)
c.4257A>T (p.Pro1419=)
c.1023A>T (p.Pro341=)
c.885A>T (p.Pro295=)
c.3447A>T (p.Pro1149=)
c.4212A>T (p.Pro1404=)
c.4194A>T (p.Pro1398=)
c.900A>T (p.Pro300=)
c.945A>T (p.Pro315=)
c.656A>T
c.909A>T (p.Pro303=)
c.*4118A>T (n.*4118A>T)
c.629A>T
c.1026A>T (p.Pro342=)
c.648A>T (p.Pro216=)
c.651A>T (p.Pro217=)
c.5-18475A>T (n.5-18475A>T)
c.-43-7905A>T (n.-43-7905A>T)
c.-98-32236A>T (n.-98-32236A>T)
n.229A>T
n.4471A>T
n.4512A>T
17g.43082426T>CCA500148354BRCA1c.4335A>G (p.Pro1445=)
c.4209A>G (p.Pro1403=)
c.4329A>G (p.Pro1443=)
c.4257A>G (p.Pro1419=)
c.1023A>G (p.Pro341=)
c.885A>G (p.Pro295=)
c.3447A>G (p.Pro1149=)
c.4212A>G (p.Pro1404=)
c.4194A>G (p.Pro1398=)
c.900A>G (p.Pro300=)
c.945A>G (p.Pro315=)
c.656A>G
c.909A>G (p.Pro303=)
c.*4118A>G (n.*4118A>G)
c.629A>G
c.1026A>G (p.Pro342=)
c.648A>G (p.Pro216=)
c.651A>G (p.Pro217=)
c.5-18475A>G (n.5-18475A>G)
c.-43-7905A>G (n.-43-7905A>G)
c.-98-32236A>G (n.-98-32236A>G)
n.229A>G
n.4471A>G
n.4512A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43082426T>GCA500148355BRCA1c.4335A>C (p.Pro1445=)
c.4209A>C (p.Pro1403=)
c.4329A>C (p.Pro1443=)
c.4257A>C (p.Pro1419=)
c.1023A>C (p.Pro341=)
c.885A>C (p.Pro295=)
c.3447A>C (p.Pro1149=)
c.4212A>C (p.Pro1404=)
c.4194A>C (p.Pro1398=)
c.900A>C (p.Pro300=)
c.945A>C (p.Pro315=)
c.656A>C
c.909A>C (p.Pro303=)
c.*4118A>C (n.*4118A>C)
c.629A>C
c.1026A>C (p.Pro342=)
c.648A>C (p.Pro216=)
c.651A>C (p.Pro217=)
c.5-18475A>C (n.5-18475A>C)
c.-43-7905A>C (n.-43-7905A>C)
c.-98-32236A>C (n.-98-32236A>C)
n.229A>C
n.4471A>C
n.4512A>C
 ClinVar dbSNP gnomAD v4
17g.43082426T=CA2260777967BRCA1c.4335A= (p.Pro1445=)
c.4209A= (p.Pro1403=)
c.4329A= (p.Pro1443=)
c.4257A= (p.Pro1419=)
c.1023A= (p.Pro341=)
c.885A= (p.Pro295=)
c.3447A= (p.Pro1149=)
c.4212A= (p.Pro1404=)
c.4194A= (p.Pro1398=)
c.900A= (p.Pro300=)
c.945A= (p.Pro315=)
c.656A=
c.909A= (p.Pro303=)
c.*4118A= (n.*4118A=)
c.629A=
c.1026A= (p.Pro342=)
c.648A= (p.Pro216=)
c.651A= (p.Pro217=)
c.5-18475A= (n.5-18475A=)
c.-43-7905A= (n.-43-7905A=)
c.-98-32236A= (n.-98-32236A=)
n.229A=
n.4471A=
n.4512A=
17g.43082427G>ACA10593054BRCA1c.4334C>T (p.Pro1445Leu)
c.4208C>T (p.Pro1403Leu)
c.4328C>T (p.Pro1443Leu)
c.4256C>T (p.Pro1419Leu)
c.1022C>T (p.Pro341Leu)
c.884C>T (p.Pro295Leu)
c.3446C>T (p.Pro1149Leu)
c.4211C>T (p.Pro1404Leu)
c.4193C>T (p.Pro1398Leu)
c.899C>T (p.Pro300Leu)
c.944C>T (p.Pro315Leu)
c.655C>T
c.908C>T (p.Pro303Leu)
c.*4117C>T (n.*4117C>T)
c.628C>T
c.1025C>T (p.Pro342Leu)
c.647C>T (p.Pro216Leu)
c.650C>T (p.Pro217Leu)
c.5-18476C>T (n.5-18476C>T)
c.-43-7906C>T (n.-43-7906C>T)
c.-98-32237C>T (n.-98-32237C>T)
n.228C>T
n.4470C>T
n.4511C>T
 dbSNP
17g.43082427G>CCA10593055BRCA1c.4334C>G (p.Pro1445Arg)
c.4208C>G (p.Pro1403Arg)
c.4328C>G (p.Pro1443Arg)
c.4256C>G (p.Pro1419Arg)
c.1022C>G (p.Pro341Arg)
c.884C>G (p.Pro295Arg)
c.3446C>G (p.Pro1149Arg)
c.4211C>G (p.Pro1404Arg)
c.4193C>G (p.Pro1398Arg)
c.899C>G (p.Pro300Arg)
c.944C>G (p.Pro315Arg)
c.655C>G
c.908C>G (p.Pro303Arg)
c.*4117C>G (n.*4117C>G)
c.628C>G
c.1025C>G (p.Pro342Arg)
c.647C>G (p.Pro216Arg)
c.650C>G (p.Pro217Arg)
c.5-18476C>G (n.5-18476C>G)
c.-43-7906C>G (n.-43-7906C>G)
c.-98-32237C>G (n.-98-32237C>G)
n.228C>G
n.4470C>G
n.4511C>G
 ClinVar dbSNP
17g.43082427G>TCA10593056BRCA1c.4334C>A (p.Pro1445Gln)
c.4208C>A (p.Pro1403Gln)
c.4328C>A (p.Pro1443Gln)
c.4256C>A (p.Pro1419Gln)
c.1022C>A (p.Pro341Gln)
c.884C>A (p.Pro295Gln)
c.3446C>A (p.Pro1149Gln)
c.4211C>A (p.Pro1404Gln)
c.4193C>A (p.Pro1398Gln)
c.899C>A (p.Pro300Gln)
c.944C>A (p.Pro315Gln)
c.655C>A
c.908C>A (p.Pro303Gln)
c.*4117C>A (n.*4117C>A)
c.628C>A
c.1025C>A (p.Pro342Gln)
c.647C>A (p.Pro216Gln)
c.650C>A (p.Pro217Gln)
c.5-18476C>A (n.5-18476C>A)
c.-43-7906C>A (n.-43-7906C>A)
c.-98-32237C>A (n.-98-32237C>A)
n.228C>A
n.4470C>A
n.4511C>A
 dbSNP
17g.43082428G>ACA10593057BRCA1c.4333C>T (p.Pro1445Ser)
c.4207C>T (p.Pro1403Ser)
c.4327C>T (p.Pro1443Ser)
c.4255C>T (p.Pro1419Ser)
c.1021C>T (p.Pro341Ser)
c.883C>T (p.Pro295Ser)
c.3445C>T (p.Pro1149Ser)
c.4210C>T (p.Pro1404Ser)
c.4192C>T (p.Pro1398Ser)
c.898C>T (p.Pro300Ser)
c.943C>T (p.Pro315Ser)
c.654C>T
c.907C>T (p.Pro303Ser)
c.*4116C>T (n.*4116C>T)
c.627C>T
c.1024C>T (p.Pro342Ser)
c.646C>T (p.Pro216Ser)
c.649C>T (p.Pro217Ser)
c.5-18477C>T (n.5-18477C>T)
c.-43-7907C>T (n.-43-7907C>T)
c.-98-32238C>T (n.-98-32238C>T)
n.227C>T
n.4469C>T
n.4510C>T
 ClinVar dbSNP
17g.43082428G>CCA10593058BRCA1c.4333C>G (p.Pro1445Ala)
c.4207C>G (p.Pro1403Ala)
c.4327C>G (p.Pro1443Ala)
c.4255C>G (p.Pro1419Ala)
c.1021C>G (p.Pro341Ala)
c.883C>G (p.Pro295Ala)
c.3445C>G (p.Pro1149Ala)
c.4210C>G (p.Pro1404Ala)
c.4192C>G (p.Pro1398Ala)
c.898C>G (p.Pro300Ala)
c.943C>G (p.Pro315Ala)
c.654C>G
c.907C>G (p.Pro303Ala)
c.*4116C>G (n.*4116C>G)
c.627C>G
c.1024C>G (p.Pro342Ala)
c.646C>G (p.Pro216Ala)
c.649C>G (p.Pro217Ala)
c.5-18477C>G (n.5-18477C>G)
c.-43-7907C>G (n.-43-7907C>G)
c.-98-32238C>G (n.-98-32238C>G)
n.227C>G
n.4469C>G
n.4510C>G
 ClinVar dbSNP
17g.43082428G=CA2260777969BRCA1c.4333C= (p.Pro1445=)
c.4207C= (p.Pro1403=)
c.4327C= (p.Pro1443=)
c.4255C= (p.Pro1419=)
c.1021C= (p.Pro341=)
c.883C= (p.Pro295=)
c.3445C= (p.Pro1149=)
c.4210C= (p.Pro1404=)
c.4192C= (p.Pro1398=)
c.898C= (p.Pro300=)
c.943C= (p.Pro315=)
c.654C=
c.907C= (p.Pro303=)
c.*4116C= (n.*4116C=)
c.627C=
c.1024C= (p.Pro342=)
c.646C= (p.Pro216=)
c.649C= (p.Pro217=)
c.5-18477C= (n.5-18477C=)
c.-43-7907C= (n.-43-7907C=)
c.-98-32238C= (n.-98-32238C=)
n.227C=
n.4469C=
n.4510C=
17g.43082428G>TCA10580524BRCA1c.4333C>A (p.Pro1445Thr)
c.4207C>A (p.Pro1403Thr)
c.4327C>A (p.Pro1443Thr)
c.4255C>A (p.Pro1419Thr)
c.1021C>A (p.Pro341Thr)
c.883C>A (p.Pro295Thr)
c.3445C>A (p.Pro1149Thr)
c.4210C>A (p.Pro1404Thr)
c.4192C>A (p.Pro1398Thr)
c.898C>A (p.Pro300Thr)
c.943C>A (p.Pro315Thr)
c.654C>A
c.907C>A (p.Pro303Thr)
c.*4116C>A (n.*4116C>A)
c.627C>A
c.1024C>A (p.Pro342Thr)
c.646C>A (p.Pro216Thr)
c.649C>A (p.Pro217Thr)
c.5-18477C>A (n.5-18477C>A)
c.-43-7907C>A (n.-43-7907C>A)
c.-98-32238C>A (n.-98-32238C>A)
n.227C>A
n.4469C>A
n.4510C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082428_43082430delinsGATCA2260777968BRCA1c.4331_4333delinsATC (p.Asn1444=)
c.4205_4207delinsATC (p.Asn1402=)
c.4325_4327delinsATC (p.Asn1442=)
c.4253_4255delinsATC (p.Asn1418=)
c.1019_1021delinsATC (p.Asn340=)
c.881_883delinsATC (p.Asn294=)
c.3443_3445delinsATC (p.Asn1148=)
c.4208_4210delinsATC (p.Asn1403=)
c.4190_4192delinsATC (p.Asn1397=)
c.896_898delinsATC (p.Asn299=)
c.941_943delinsATC (p.Asn314=)
c.652_654delinsATC
c.905_907delinsATC (p.Asn302=)
c.*4114_*4116delinsATC (n.*4114_*4116delinsATC)
c.625_627delinsATC
c.1022_1024delinsATC (p.Asn341=)
c.644_646delinsATC (p.Asn215=)
c.647_649delinsATC (p.Asn216=)
c.5-18479_5-18477delinsATC (n.5-18479_5-18477delinsATC)
c.-43-7909_-43-7907delinsATC (n.-43-7909_-43-7907delinsATC)
c.-98-32240_-98-32238delinsATC (n.-98-32240_-98-32238delinsATC)
n.225_227delinsATC
n.4467_4469delinsATC
n.4508_4510delinsATC
17g.43082429A=CA2260777970BRCA1c.4332T= (p.Asn1444=)
c.4206T= (p.Asn1402=)
c.4326T= (p.Asn1442=)
c.4254T= (p.Asn1418=)
c.1020T= (p.Asn340=)
c.882T= (p.Asn294=)
c.3444T= (p.Asn1148=)
c.4209T= (p.Asn1403=)
c.4191T= (p.Asn1397=)
c.897T= (p.Asn299=)
c.942T= (p.Asn314=)
c.653T=
c.906T= (p.Asn302=)
c.*4115T= (n.*4115T=)
c.626T=
c.1023T= (p.Asn341=)
c.645T= (p.Asn215=)
c.648T= (p.Asn216=)
c.5-18478T= (n.5-18478T=)
c.-43-7908T= (n.-43-7908T=)
c.-98-32239T= (n.-98-32239T=)
n.226T=
n.4468T=
n.4509T=
17g.43082429A>CCA10593059BRCA1c.4332T>G (p.Asn1444Lys)
c.4206T>G (p.Asn1402Lys)
c.4326T>G (p.Asn1442Lys)
c.4254T>G (p.Asn1418Lys)
c.1020T>G (p.Asn340Lys)
c.882T>G (p.Asn294Lys)
c.3444T>G (p.Asn1148Lys)
c.4209T>G (p.Asn1403Lys)
c.4191T>G (p.Asn1397Lys)
c.897T>G (p.Asn299Lys)
c.942T>G (p.Asn314Lys)
c.653T>G
c.906T>G (p.Asn302Lys)
c.*4115T>G (n.*4115T>G)
c.626T>G
c.1023T>G (p.Asn341Lys)
c.645T>G (p.Asn215Lys)
c.648T>G (p.Asn216Lys)
c.5-18478T>G (n.5-18478T>G)
c.-43-7908T>G (n.-43-7908T>G)
c.-98-32239T>G (n.-98-32239T>G)
n.226T>G
n.4468T>G
n.4509T>G
17g.43082429A>GCA059939BRCA1c.4332T>C (p.Asn1444=)
c.4206T>C (p.Asn1402=)
c.4326T>C (p.Asn1442=)
c.4254T>C (p.Asn1418=)
c.1020T>C (p.Asn340=)
c.882T>C (p.Asn294=)
c.3444T>C (p.Asn1148=)
c.4209T>C (p.Asn1403=)
c.4191T>C (p.Asn1397=)
c.897T>C (p.Asn299=)
c.942T>C (p.Asn314=)
c.653T>C
c.906T>C (p.Asn302=)
c.*4115T>C (n.*4115T>C)
c.626T>C
c.1023T>C (p.Asn341=)
c.645T>C (p.Asn215=)
c.648T>C (p.Asn216=)
c.5-18478T>C (n.5-18478T>C)
c.-43-7908T>C (n.-43-7908T>C)
c.-98-32239T>C (n.-98-32239T>C)
n.226T>C
n.4468T>C
n.4509T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082429A>TCA10593060BRCA1c.4332T>A (p.Asn1444Lys)
c.4206T>A (p.Asn1402Lys)
c.4326T>A (p.Asn1442Lys)
c.4254T>A (p.Asn1418Lys)
c.1020T>A (p.Asn340Lys)
c.882T>A (p.Asn294Lys)
c.3444T>A (p.Asn1148Lys)
c.4209T>A (p.Asn1403Lys)
c.4191T>A (p.Asn1397Lys)
c.897T>A (p.Asn299Lys)
c.942T>A (p.Asn314Lys)
c.653T>A
c.906T>A (p.Asn302Lys)
c.*4115T>A (n.*4115T>A)
c.626T>A
c.1023T>A (p.Asn341Lys)
c.645T>A (p.Asn215Lys)
c.648T>A (p.Asn216Lys)
c.5-18478T>A (n.5-18478T>A)
c.-43-7908T>A (n.-43-7908T>A)
c.-98-32239T>A (n.-98-32239T>A)
n.226T>A
n.4468T>A
n.4509T>A
17g.43082429_43082430delCA002772BRCA1c.4331_4332del (p.Asn1444ThrfsTer16)
c.4331_4332del (p.Asn1444ThrfsTer17)
c.4205_4206del (p.Asn1402ThrfsTer17)
c.4325_4326del (p.Asn1442ThrfsTer17)
c.4253_4254del (p.Asn1418ThrfsTer17)
c.1019_1020del (p.Asn340ThrfsTer17)
c.881_882del (p.Asn294ThrfsTer17)
c.3443_3444del (p.Asn1148ThrfsTer17)
c.4208_4209del (p.Asn1403ThrfsTer17)
c.4331_4332del (p.Asn1444ThrfsTer23)
c.4190_4191del (p.Asn1397ThrfsTer17)
c.896_897del (p.Asn299ThrfsTer16)
c.941_942del (p.Asn314ThrfsTer16)
c.652_653del
c.905_906del (p.Asn302ThrfsTer17)
c.*4114_*4115del (n.*4114_*4115del)
c.625_626del
c.1022_1023del (p.Asn341ThrfsTer16)
c.644_645del (p.Asn215ThrfsTer17)
c.647_648del (p.Asn216ThrfsTer17)
c.5-18479_5-18478del (n.5-18479_5-18478del)
c.-43-7909_-43-7908del (n.-43-7909_-43-7908del)
c.-98-32240_-98-32239del (n.-98-32240_-98-32239del)
n.225_226del
n.4467_4468del
n.4508_4509del
 ClinVar dbSNP
17g.43082430T>ACA10593061BRCA1c.4331A>T (p.Asn1444Ile)
c.4205A>T (p.Asn1402Ile)
c.4325A>T (p.Asn1442Ile)
c.4253A>T (p.Asn1418Ile)
c.1019A>T (p.Asn340Ile)
c.881A>T (p.Asn294Ile)
c.3443A>T (p.Asn1148Ile)
c.4208A>T (p.Asn1403Ile)
c.4190A>T (p.Asn1397Ile)
c.896A>T (p.Asn299Ile)
c.941A>T (p.Asn314Ile)
c.652A>T
c.905A>T (p.Asn302Ile)
c.*4114A>T (n.*4114A>T)
c.625A>T
c.1022A>T (p.Asn341Ile)
c.644A>T (p.Asn215Ile)
c.647A>T (p.Asn216Ile)
c.5-18479A>T (n.5-18479A>T)
c.-43-7909A>T (n.-43-7909A>T)
c.-98-32240A>T (n.-98-32240A>T)
n.225A>T
n.4467A>T
n.4508A>T
 ClinVar dbSNP
17g.43082430T>CCA10593062BRCA1c.4331A>G (p.Asn1444Ser)
c.4205A>G (p.Asn1402Ser)
c.4325A>G (p.Asn1442Ser)
c.4253A>G (p.Asn1418Ser)
c.1019A>G (p.Asn340Ser)
c.881A>G (p.Asn294Ser)
c.3443A>G (p.Asn1148Ser)
c.4208A>G (p.Asn1403Ser)
c.4190A>G (p.Asn1397Ser)
c.896A>G (p.Asn299Ser)
c.941A>G (p.Asn314Ser)
c.652A>G
c.905A>G (p.Asn302Ser)
c.*4114A>G (n.*4114A>G)
c.625A>G
c.1022A>G (p.Asn341Ser)
c.644A>G (p.Asn215Ser)
c.647A>G (p.Asn216Ser)
c.5-18479A>G (n.5-18479A>G)
c.-43-7909A>G (n.-43-7909A>G)
c.-98-32240A>G (n.-98-32240A>G)
n.225A>G
n.4467A>G
n.4508A>G
17g.43082430T>GCA10593063BRCA1c.4331A>C (p.Asn1444Thr)
c.4205A>C (p.Asn1402Thr)
c.4325A>C (p.Asn1442Thr)
c.4253A>C (p.Asn1418Thr)
c.1019A>C (p.Asn340Thr)
c.881A>C (p.Asn294Thr)
c.3443A>C (p.Asn1148Thr)
c.4208A>C (p.Asn1403Thr)
c.4190A>C (p.Asn1397Thr)
c.896A>C (p.Asn299Thr)
c.941A>C (p.Asn314Thr)
c.652A>C
c.905A>C (p.Asn302Thr)
c.*4114A>C (n.*4114A>C)
c.625A>C
c.1022A>C (p.Asn341Thr)
c.644A>C (p.Asn215Thr)
c.647A>C (p.Asn216Thr)
c.5-18479A>C (n.5-18479A>C)
c.-43-7909A>C (n.-43-7909A>C)
c.-98-32240A>C (n.-98-32240A>C)
n.225A>C
n.4467A>C
n.4508A>C
17g.43082430T=CA2260777971BRCA1c.4331A= (p.Asn1444=)
c.4205A= (p.Asn1402=)
c.4325A= (p.Asn1442=)
c.4253A= (p.Asn1418=)
c.1019A= (p.Asn340=)
c.881A= (p.Asn294=)
c.3443A= (p.Asn1148=)
c.4208A= (p.Asn1403=)
c.4190A= (p.Asn1397=)
c.896A= (p.Asn299=)
c.941A= (p.Asn314=)
c.652A=
c.905A= (p.Asn302=)
c.*4114A= (n.*4114A=)
c.625A=
c.1022A= (p.Asn341=)
c.644A= (p.Asn215=)
c.647A= (p.Asn216=)
c.5-18479A= (n.5-18479A=)
c.-43-7909A= (n.-43-7909A=)
c.-98-32240A= (n.-98-32240A=)
n.225A=
n.4467A=
n.4508A=
17g.43082431T>ACA10593064BRCA1c.4330A>T (p.Asn1444Tyr)
c.4204A>T (p.Asn1402Tyr)
c.4324A>T (p.Asn1442Tyr)
c.4252A>T (p.Asn1418Tyr)
c.1018A>T (p.Asn340Tyr)
c.880A>T (p.Asn294Tyr)
c.3442A>T (p.Asn1148Tyr)
c.4207A>T (p.Asn1403Tyr)
c.4189A>T (p.Asn1397Tyr)
c.895A>T (p.Asn299Tyr)
c.940A>T (p.Asn314Tyr)
c.651A>T
c.904A>T (p.Asn302Tyr)
c.*4113A>T (n.*4113A>T)
c.624A>T
c.1021A>T (p.Asn341Tyr)
c.643A>T (p.Asn215Tyr)
c.646A>T (p.Asn216Tyr)
c.5-18480A>T (n.5-18480A>T)
c.-43-7910A>T (n.-43-7910A>T)
c.-98-32241A>T (n.-98-32241A>T)
n.224A>T
n.4466A>T
n.4507A>T
 dbSNP
17g.43082431T>CCA10593065BRCA1c.4330A>G (p.Asn1444Asp)
c.4204A>G (p.Asn1402Asp)
c.4324A>G (p.Asn1442Asp)
c.4252A>G (p.Asn1418Asp)
c.1018A>G (p.Asn340Asp)
c.880A>G (p.Asn294Asp)
c.3442A>G (p.Asn1148Asp)
c.4207A>G (p.Asn1403Asp)
c.4189A>G (p.Asn1397Asp)
c.895A>G (p.Asn299Asp)
c.940A>G (p.Asn314Asp)
c.651A>G
c.904A>G (p.Asn302Asp)
c.*4113A>G (n.*4113A>G)
c.624A>G
c.1021A>G (p.Asn341Asp)
c.643A>G (p.Asn215Asp)
c.646A>G (p.Asn216Asp)
c.5-18480A>G (n.5-18480A>G)
c.-43-7910A>G (n.-43-7910A>G)
c.-98-32241A>G (n.-98-32241A>G)
n.224A>G
n.4466A>G
n.4507A>G
 dbSNP
17g.43082431T>GCA10593066BRCA1c.4330A>C (p.Asn1444His)
c.4204A>C (p.Asn1402His)
c.4324A>C (p.Asn1442His)
c.4252A>C (p.Asn1418His)
c.1018A>C (p.Asn340His)
c.880A>C (p.Asn294His)
c.3442A>C (p.Asn1148His)
c.4207A>C (p.Asn1403His)
c.4189A>C (p.Asn1397His)
c.895A>C (p.Asn299His)
c.940A>C (p.Asn314His)
c.651A>C
c.904A>C (p.Asn302His)
c.*4113A>C (n.*4113A>C)
c.624A>C
c.1021A>C (p.Asn341His)
c.643A>C (p.Asn215His)
c.646A>C (p.Asn216His)
c.5-18480A>C (n.5-18480A>C)
c.-43-7910A>C (n.-43-7910A>C)
c.-98-32241A>C (n.-98-32241A>C)
n.224A>C
n.4466A>C
n.4507A>C
 ClinVar
17g.43082432T>ACA500148358BRCA1c.4329A>T (p.Arg1443=)
c.4203A>T (p.Arg1401=)
c.4323A>T (p.Arg1441=)
c.4251A>T (p.Arg1417=)
c.1017A>T (p.Arg339=)
c.879A>T (p.Arg293=)
c.3441A>T (p.Arg1147=)
c.4206A>T (p.Arg1402=)
c.4188A>T (p.Arg1396=)
c.894A>T (p.Arg298=)
c.939A>T (p.Arg313=)
c.650A>T
c.903A>T (p.Arg301=)
c.*4112A>T (n.*4112A>T)
c.623A>T
c.1020A>T (p.Arg340=)
c.642A>T (p.Arg214=)
c.645A>T (p.Arg215=)
c.5-18481A>T (n.5-18481A>T)
c.-43-7911A>T (n.-43-7911A>T)
c.-98-32242A>T (n.-98-32242A>T)
n.223A>T
n.4465A>T
n.4506A>T
 dbSNP
17g.43082432T>CCA500148356BRCA1c.4329A>G (p.Arg1443=)
c.4203A>G (p.Arg1401=)
c.4323A>G (p.Arg1441=)
c.4251A>G (p.Arg1417=)
c.1017A>G (p.Arg339=)
c.879A>G (p.Arg293=)
c.3441A>G (p.Arg1147=)
c.4206A>G (p.Arg1402=)
c.4188A>G (p.Arg1396=)
c.894A>G (p.Arg298=)
c.939A>G (p.Arg313=)
c.650A>G
c.903A>G (p.Arg301=)
c.*4112A>G (n.*4112A>G)
c.623A>G
c.1020A>G (p.Arg340=)
c.642A>G (p.Arg214=)
c.645A>G (p.Arg215=)
c.5-18481A>G (n.5-18481A>G)
c.-43-7911A>G (n.-43-7911A>G)
c.-98-32242A>G (n.-98-32242A>G)
n.223A>G
n.4465A>G
n.4506A>G
 dbSNP gnomAD v4
17g.43082432T>GCA500148357BRCA1c.4329A>C (p.Arg1443=)
c.4203A>C (p.Arg1401=)
c.4323A>C (p.Arg1441=)
c.4251A>C (p.Arg1417=)
c.1017A>C (p.Arg339=)
c.879A>C (p.Arg293=)
c.3441A>C (p.Arg1147=)
c.4206A>C (p.Arg1402=)
c.4188A>C (p.Arg1396=)
c.894A>C (p.Arg298=)
c.939A>C (p.Arg313=)
c.650A>C
c.903A>C (p.Arg301=)
c.*4112A>C (n.*4112A>C)
c.623A>C
c.1020A>C (p.Arg340=)
c.642A>C (p.Arg214=)
c.645A>C (p.Arg215=)
c.5-18481A>C (n.5-18481A>C)
c.-43-7911A>C (n.-43-7911A>C)
c.-98-32242A>C (n.-98-32242A>C)
n.223A>C
n.4465A>C
n.4506A>C
17g.43082434_43082440delCA2499224422BRCA1c.4323_4329del (p.Asp1441GlufsTer12)
c.4323_4329del (p.Asp1441GlufsTer13)
c.4197_4203del (p.Asp1399GlufsTer13)
c.4317_4323del (p.Asp1439GlufsTer13)
c.4245_4251del (p.Asp1415GlufsTer13)
c.1011_1017del (p.Asp337GlufsTer13)
c.873_879del (p.Asp291GlufsTer13)
c.3435_3441del (p.Asp1145GlufsTer13)
c.4200_4206del (p.Asp1400GlufsTer13)
c.4323_4329del (p.Asp1441GlufsTer?)
c.4182_4188del (p.Asp1394GlufsTer13)
c.888_894del (p.Asp296GlufsTer12)
c.933_939del (p.Asp311GlufsTer12)
c.644_650del
c.897_903del (p.Asp299GlufsTer13)
c.*4106_*4112del (n.*4106_*4112del)
c.617_623del
c.1014_1020del (p.Asp338GlufsTer12)
c.636_642del (p.Asp212GlufsTer13)
c.639_645del (p.Asp213GlufsTer13)
c.5-18487_5-18481del (n.5-18487_5-18481del)
c.-43-7917_-43-7911del (n.-43-7917_-43-7911del)
c.-98-32248_-98-32242del (n.-98-32248_-98-32242del)
n.217_223del
n.4459_4465del
n.4500_4506del
17g.43082433C>ACA10593067BRCA1c.4328G>T (p.Arg1443Leu)
c.4202G>T (p.Arg1401Leu)
c.4322G>T (p.Arg1441Leu)
c.4250G>T (p.Arg1417Leu)
c.1016G>T (p.Arg339Leu)
c.878G>T (p.Arg293Leu)
c.3440G>T (p.Arg1147Leu)
c.4205G>T (p.Arg1402Leu)
c.4187G>T (p.Arg1396Leu)
c.893G>T (p.Arg298Leu)
c.938G>T (p.Arg313Leu)
c.649G>T
c.902G>T (p.Arg301Leu)
c.*4111G>T (n.*4111G>T)
c.622G>T
c.1019G>T (p.Arg340Leu)
c.641G>T (p.Arg214Leu)
c.644G>T (p.Arg215Leu)
c.5-18482G>T (n.5-18482G>T)
c.-43-7912G>T (n.-43-7912G>T)
c.-98-32243G>T (n.-98-32243G>T)
n.222G>T
n.4464G>T
n.4505G>T
 ClinVar dbSNP
17g.43082433C=CA2260777972BRCA1c.4328G= (p.Arg1443=)
c.4202G= (p.Arg1401=)
c.4322G= (p.Arg1441=)
c.4250G= (p.Arg1417=)
c.1016G= (p.Arg339=)
c.878G= (p.Arg293=)
c.3440G= (p.Arg1147=)
c.4205G= (p.Arg1402=)
c.4187G= (p.Arg1396=)
c.893G= (p.Arg298=)
c.938G= (p.Arg313=)
c.649G=
c.902G= (p.Arg301=)
c.*4111G= (n.*4111G=)
c.622G=
c.1019G= (p.Arg340=)
c.641G= (p.Arg214=)
c.644G= (p.Arg215=)
c.5-18482G= (n.5-18482G=)
c.-43-7912G= (n.-43-7912G=)
c.-98-32243G= (n.-98-32243G=)
n.222G=
n.4464G=
n.4505G=
17g.43082433C>GCA10593068BRCA1c.4328G>C (p.Arg1443Pro)
c.4202G>C (p.Arg1401Pro)
c.4322G>C (p.Arg1441Pro)
c.4250G>C (p.Arg1417Pro)
c.1016G>C (p.Arg339Pro)
c.878G>C (p.Arg293Pro)
c.3440G>C (p.Arg1147Pro)
c.4205G>C (p.Arg1402Pro)
c.4187G>C (p.Arg1396Pro)
c.893G>C (p.Arg298Pro)
c.938G>C (p.Arg313Pro)
c.649G>C
c.902G>C (p.Arg301Pro)
c.*4111G>C (n.*4111G>C)
c.622G>C
c.1019G>C (p.Arg340Pro)
c.641G>C (p.Arg214Pro)
c.644G>C (p.Arg215Pro)
c.5-18482G>C (n.5-18482G>C)
c.-43-7912G>C (n.-43-7912G>C)
c.-98-32243G>C (n.-98-32243G>C)
n.222G>C
n.4464G>C
n.4505G>C
 dbSNP
17g.43082433C>TCA002771BRCA1c.4328G>A (p.Arg1443Gln)
c.4202G>A (p.Arg1401Gln)
c.4322G>A (p.Arg1441Gln)
c.4250G>A (p.Arg1417Gln)
c.1016G>A (p.Arg339Gln)
c.878G>A (p.Arg293Gln)
c.3440G>A (p.Arg1147Gln)
c.4205G>A (p.Arg1402Gln)
c.4187G>A (p.Arg1396Gln)
c.893G>A (p.Arg298Gln)
c.938G>A (p.Arg313Gln)
c.649G>A
c.902G>A (p.Arg301Gln)
c.*4111G>A (n.*4111G>A)
c.622G>A
c.1019G>A (p.Arg340Gln)
c.641G>A (p.Arg214Gln)
c.644G>A (p.Arg215Gln)
c.5-18482G>A (n.5-18482G>A)
c.-43-7912G>A (n.-43-7912G>A)
c.-98-32243G>A (n.-98-32243G>A)
n.222G>A
n.4464G>A
n.4505G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082434G>ACA002769BRCA1c.4327C>T (p.Arg1443Ter)
c.4201C>T (p.Arg1401Ter)
c.4321C>T (p.Arg1441Ter)
c.4249C>T (p.Arg1417Ter)
c.1015C>T (p.Arg339Ter)
c.877C>T (p.Arg293Ter)
c.3439C>T (p.Arg1147Ter)
c.4204C>T (p.Arg1402Ter)
c.4186C>T (p.Arg1396Ter)
c.892C>T (p.Arg298Ter)
c.937C>T (p.Arg313Ter)
c.648C>T
c.901C>T (p.Arg301Ter)
c.*4110C>T (n.*4110C>T)
c.621C>T
c.1018C>T (p.Arg340Ter)
c.640C>T (p.Arg214Ter)
c.643C>T (p.Arg215Ter)
c.5-18483C>T (n.5-18483C>T)
c.-43-7913C>T (n.-43-7913C>T)
c.-98-32244C>T (n.-98-32244C>T)
n.221C>T
n.4463C>T
n.4504C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43082434G>CCA002768BRCA1c.4327C>G (p.Arg1443Gly)
c.4201C>G (p.Arg1401Gly)
c.4321C>G (p.Arg1441Gly)
c.4249C>G (p.Arg1417Gly)
c.1015C>G (p.Arg339Gly)
c.877C>G (p.Arg293Gly)
c.3439C>G (p.Arg1147Gly)
c.4204C>G (p.Arg1402Gly)
c.4186C>G (p.Arg1396Gly)
c.892C>G (p.Arg298Gly)
c.937C>G (p.Arg313Gly)
c.648C>G
c.901C>G (p.Arg301Gly)
c.*4110C>G (n.*4110C>G)
c.621C>G
c.1018C>G (p.Arg340Gly)
c.640C>G (p.Arg214Gly)
c.643C>G (p.Arg215Gly)
c.5-18483C>G (n.5-18483C>G)
c.-43-7913C>G (n.-43-7913C>G)
c.-98-32244C>G (n.-98-32244C>G)
n.221C>G
n.4463C>G
n.4504C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082434G=CA2260777973BRCA1c.4327C= (p.Arg1443=)
c.4201C= (p.Arg1401=)
c.4321C= (p.Arg1441=)
c.4249C= (p.Arg1417=)
c.1015C= (p.Arg339=)
c.877C= (p.Arg293=)
c.3439C= (p.Arg1147=)
c.4204C= (p.Arg1402=)
c.4186C= (p.Arg1396=)
c.892C= (p.Arg298=)
c.937C= (p.Arg313=)
c.648C=
c.901C= (p.Arg301=)
c.*4110C= (n.*4110C=)
c.621C=
c.1018C= (p.Arg340=)
c.640C= (p.Arg214=)
c.643C= (p.Arg215=)
c.5-18483C= (n.5-18483C=)
c.-43-7913C= (n.-43-7913C=)
c.-98-32244C= (n.-98-32244C=)
n.221C=
n.4463C=
n.4504C=
17g.43082434G>TCA500148359BRCA1c.4327C>A (p.Arg1443=)
c.4201C>A (p.Arg1401=)
c.4321C>A (p.Arg1441=)
c.4249C>A (p.Arg1417=)
c.1015C>A (p.Arg339=)
c.877C>A (p.Arg293=)
c.3439C>A (p.Arg1147=)
c.4204C>A (p.Arg1402=)
c.4186C>A (p.Arg1396=)
c.892C>A (p.Arg298=)
c.937C>A (p.Arg313=)
c.648C>A
c.901C>A (p.Arg301=)
c.*4110C>A (n.*4110C>A)
c.621C>A
c.1018C>A (p.Arg340=)
c.640C>A (p.Arg214=)
c.643C>A (p.Arg215=)
c.5-18483C>A (n.5-18483C>A)
c.-43-7913C>A (n.-43-7913C>A)
c.-98-32244C>A (n.-98-32244C>A)
n.221C>A
n.4463C>A
n.4504C>A
 dbSNP
17g.43082435C>ACA500148360BRCA1c.4326G>T (p.Leu1442=)
c.4200G>T (p.Leu1400=)
c.4320G>T (p.Leu1440=)
c.4248G>T (p.Leu1416=)
c.1014G>T (p.Leu338=)
c.876G>T (p.Leu292=)
c.3438G>T (p.Leu1146=)
c.4203G>T (p.Leu1401=)
c.4185G>T (p.Leu1395=)
c.891G>T (p.Leu297=)
c.936G>T (p.Leu312=)
c.647G>T
c.900G>T (p.Leu300=)
c.*4109G>T (n.*4109G>T)
c.620G>T
c.1017G>T (p.Leu339=)
c.639G>T (p.Leu213=)
c.642G>T (p.Leu214=)
c.5-18484G>T (n.5-18484G>T)
c.-43-7914G>T (n.-43-7914G>T)
c.-98-32245G>T (n.-98-32245G>T)
n.220G>T
n.4462G>T
n.4503G>T
 ClinVar dbSNP
17g.43082435C>GCA500148361BRCA1c.4326G>C (p.Leu1442=)
c.4200G>C (p.Leu1400=)
c.4320G>C (p.Leu1440=)
c.4248G>C (p.Leu1416=)
c.1014G>C (p.Leu338=)
c.876G>C (p.Leu292=)
c.3438G>C (p.Leu1146=)
c.4203G>C (p.Leu1401=)
c.4185G>C (p.Leu1395=)
c.891G>C (p.Leu297=)
c.936G>C (p.Leu312=)
c.647G>C
c.900G>C (p.Leu300=)
c.*4109G>C (n.*4109G>C)
c.620G>C
c.1017G>C (p.Leu339=)
c.639G>C (p.Leu213=)
c.642G>C (p.Leu214=)
c.5-18484G>C (n.5-18484G>C)
c.-43-7914G>C (n.-43-7914G>C)
c.-98-32245G>C (n.-98-32245G>C)
n.220G>C
n.4462G>C
n.4503G>C
 ClinVar dbSNP
17g.43082435C>TCA500148362BRCA1c.4326G>A (p.Leu1442=)
c.4200G>A (p.Leu1400=)
c.4320G>A (p.Leu1440=)
c.4248G>A (p.Leu1416=)
c.1014G>A (p.Leu338=)
c.876G>A (p.Leu292=)
c.3438G>A (p.Leu1146=)
c.4203G>A (p.Leu1401=)
c.4185G>A (p.Leu1395=)
c.891G>A (p.Leu297=)
c.936G>A (p.Leu312=)
c.647G>A
c.900G>A (p.Leu300=)
c.*4109G>A (n.*4109G>A)
c.620G>A
c.1017G>A (p.Leu339=)
c.639G>A (p.Leu213=)
c.642G>A (p.Leu214=)
c.5-18484G>A (n.5-18484G>A)
c.-43-7914G>A (n.-43-7914G>A)
c.-98-32245G>A (n.-98-32245G>A)
n.220G>A
n.4462G>A
n.4503G>A
 ClinVar dbSNP
17g.43082436A>CCA10593069BRCA1c.4325T>G (p.Leu1442Arg)
c.4199T>G (p.Leu1400Arg)
c.4319T>G (p.Leu1440Arg)
c.4247T>G (p.Leu1416Arg)
c.1013T>G (p.Leu338Arg)
c.875T>G (p.Leu292Arg)
c.3437T>G (p.Leu1146Arg)
c.4202T>G (p.Leu1401Arg)
c.4184T>G (p.Leu1395Arg)
c.890T>G (p.Leu297Arg)
c.935T>G (p.Leu312Arg)
c.646T>G
c.899T>G (p.Leu300Arg)
c.*4108T>G (n.*4108T>G)
c.619T>G
c.1016T>G (p.Leu339Arg)
c.638T>G (p.Leu213Arg)
c.641T>G (p.Leu214Arg)
c.5-18485T>G (n.5-18485T>G)
c.-43-7915T>G (n.-43-7915T>G)
c.-98-32246T>G (n.-98-32246T>G)
n.219T>G
n.4461T>G
n.4502T>G
 dbSNP
17g.43082436A>GCA10593070BRCA1c.4325T>C (p.Leu1442Pro)
c.4199T>C (p.Leu1400Pro)
c.4319T>C (p.Leu1440Pro)
c.4247T>C (p.Leu1416Pro)
c.1013T>C (p.Leu338Pro)
c.875T>C (p.Leu292Pro)
c.3437T>C (p.Leu1146Pro)
c.4202T>C (p.Leu1401Pro)
c.4184T>C (p.Leu1395Pro)
c.890T>C (p.Leu297Pro)
c.935T>C (p.Leu312Pro)
c.646T>C
c.899T>C (p.Leu300Pro)
c.*4108T>C (n.*4108T>C)
c.619T>C
c.1016T>C (p.Leu339Pro)
c.638T>C (p.Leu213Pro)
c.641T>C (p.Leu214Pro)
c.5-18485T>C (n.5-18485T>C)
c.-43-7915T>C (n.-43-7915T>C)
c.-98-32246T>C (n.-98-32246T>C)
n.219T>C
n.4461T>C
n.4502T>C
 dbSNP
17g.43082436A>TCA10593071BRCA1c.4325T>A (p.Leu1442Gln)
c.4199T>A (p.Leu1400Gln)
c.4319T>A (p.Leu1440Gln)
c.4247T>A (p.Leu1416Gln)
c.1013T>A (p.Leu338Gln)
c.875T>A (p.Leu292Gln)
c.3437T>A (p.Leu1146Gln)
c.4202T>A (p.Leu1401Gln)
c.4184T>A (p.Leu1395Gln)
c.890T>A (p.Leu297Gln)
c.935T>A (p.Leu312Gln)
c.646T>A
c.899T>A (p.Leu300Gln)
c.*4108T>A (n.*4108T>A)
c.619T>A
c.1016T>A (p.Leu339Gln)
c.638T>A (p.Leu213Gln)
c.641T>A (p.Leu214Gln)
c.5-18485T>A (n.5-18485T>A)
c.-43-7915T>A (n.-43-7915T>A)
c.-98-32246T>A (n.-98-32246T>A)
n.219T>A
n.4461T>A
n.4502T>A
 ClinVar dbSNP
17g.43082436_43082437delinsAGCA2260777974BRCA1c.4324_4325delinsCT (p.Leu1442=)
c.4198_4199delinsCT (p.Leu1400=)
c.4318_4319delinsCT (p.Leu1440=)
c.4246_4247delinsCT (p.Leu1416=)
c.1012_1013delinsCT (p.Leu338=)
c.874_875delinsCT (p.Leu292=)
c.3436_3437delinsCT (p.Leu1146=)
c.4201_4202delinsCT (p.Leu1401=)
c.4183_4184delinsCT (p.Leu1395=)
c.889_890delinsCT (p.Leu297=)
c.934_935delinsCT (p.Leu312=)
c.645_646delinsCT
c.898_899delinsCT (p.Leu300=)
c.*4107_*4108delinsCT (n.*4107_*4108delinsCT)
c.618_619delinsCT
c.1015_1016delinsCT (p.Leu339=)
c.637_638delinsCT (p.Leu213=)
c.640_641delinsCT (p.Leu214=)
c.5-18486_5-18485delinsCT (n.5-18486_5-18485delinsCT)
c.-43-7916_-43-7915delinsCT (n.-43-7916_-43-7915delinsCT)
c.-98-32247_-98-32246delinsCT (n.-98-32247_-98-32246delinsCT)
n.218_219delinsCT
n.4460_4461delinsCT
n.4501_4502delinsCT
17g.43082437G>ACA500148363BRCA1c.4324C>T (p.Leu1442=)
c.4198C>T (p.Leu1400=)
c.4318C>T (p.Leu1440=)
c.4246C>T (p.Leu1416=)
c.1012C>T (p.Leu338=)
c.874C>T (p.Leu292=)
c.3436C>T (p.Leu1146=)
c.4201C>T (p.Leu1401=)
c.4183C>T (p.Leu1395=)
c.889C>T (p.Leu297=)
c.934C>T (p.Leu312=)
c.645C>T
c.898C>T (p.Leu300=)
c.*4107C>T (n.*4107C>T)
c.618C>T
c.1015C>T (p.Leu339=)
c.637C>T (p.Leu213=)
c.640C>T (p.Leu214=)
c.5-18486C>T (n.5-18486C>T)
c.-43-7916C>T (n.-43-7916C>T)
c.-98-32247C>T (n.-98-32247C>T)
n.218C>T
n.4460C>T
n.4501C>T
 dbSNP COSMIC
17g.43082437G>CCA10593072BRCA1c.4324C>G (p.Leu1442Val)
c.4198C>G (p.Leu1400Val)
c.4318C>G (p.Leu1440Val)
c.4246C>G (p.Leu1416Val)
c.1012C>G (p.Leu338Val)
c.874C>G (p.Leu292Val)
c.3436C>G (p.Leu1146Val)
c.4201C>G (p.Leu1401Val)
c.4183C>G (p.Leu1395Val)
c.889C>G (p.Leu297Val)
c.934C>G (p.Leu312Val)
c.645C>G
c.898C>G (p.Leu300Val)
c.*4107C>G (n.*4107C>G)
c.618C>G
c.1015C>G (p.Leu339Val)
c.637C>G (p.Leu213Val)
c.640C>G (p.Leu214Val)
c.5-18486C>G (n.5-18486C>G)
c.-43-7916C>G (n.-43-7916C>G)
c.-98-32247C>G (n.-98-32247C>G)
n.218C>G
n.4460C>G
n.4501C>G
 dbSNP
17g.43082437G>TCA10593073BRCA1c.4324C>A (p.Leu1442Met)
c.4198C>A (p.Leu1400Met)
c.4318C>A (p.Leu1440Met)
c.4246C>A (p.Leu1416Met)
c.1012C>A (p.Leu338Met)
c.874C>A (p.Leu292Met)
c.3436C>A (p.Leu1146Met)
c.4201C>A (p.Leu1401Met)
c.4183C>A (p.Leu1395Met)
c.889C>A (p.Leu297Met)
c.934C>A (p.Leu312Met)
c.645C>A
c.898C>A (p.Leu300Met)
c.*4107C>A (n.*4107C>A)
c.618C>A
c.1015C>A (p.Leu339Met)
c.637C>A (p.Leu213Met)
c.640C>A (p.Leu214Met)
c.5-18486C>A (n.5-18486C>A)
c.-43-7916C>A (n.-43-7916C>A)
c.-98-32247C>A (n.-98-32247C>A)
n.218C>A
n.4460C>A
n.4501C>A
 dbSNP gnomAD v4
17g.43082438delCA2260777975BRCA1c.4324del (p.Leu1442CysfsTer13)
c.4324del (p.Leu1442CysfsTer14)
c.4198del (p.Leu1400CysfsTer14)
c.4318del (p.Leu1440CysfsTer14)
c.4246del (p.Leu1416CysfsTer14)
c.1012del (p.Leu338CysfsTer14)
c.874del (p.Leu292CysfsTer14)
c.3436del (p.Leu1146CysfsTer14)
c.4201del (p.Leu1401CysfsTer14)
c.4324del (p.Leu1442CysfsTer?)
c.4183del (p.Leu1395CysfsTer14)
c.889del (p.Leu297CysfsTer13)
c.934del (p.Leu312CysfsTer13)
c.645del
c.898del (p.Leu300CysfsTer14)
c.*4107del (n.*4107del)
c.618del
c.1015del (p.Leu339CysfsTer13)
c.637del (p.Leu213CysfsTer14)
c.640del (p.Leu214CysfsTer14)
c.5-18486del (n.5-18486del)
c.-43-7916del (n.-43-7916del)
c.-98-32247del (n.-98-32247del)
n.218del
n.4460del
n.4501del
 dbSNP
17g.43082437_43082440delCA2831039458BRCA1c.4321_4324del (p.Asp1441CysfsTer13)
c.4321_4324del (p.Asp1441CysfsTer14)
c.4195_4198del (p.Asp1399CysfsTer14)
c.4315_4318del (p.Asp1439CysfsTer14)
c.4243_4246del (p.Asp1415CysfsTer14)
c.1009_1012del (p.Asp337CysfsTer14)
c.871_874del (p.Asp291CysfsTer14)
c.3433_3436del (p.Asp1145CysfsTer14)
c.4198_4201del (p.Asp1400CysfsTer14)
c.4321_4324del (p.Asp1441CysfsTer?)
c.4180_4183del (p.Asp1394CysfsTer14)
c.886_889del (p.Asp296CysfsTer13)
c.931_934del (p.Asp311CysfsTer13)
c.642_645del
c.895_898del (p.Asp299CysfsTer14)
c.*4104_*4107del (n.*4104_*4107del)
c.615_618del
c.1012_1015del (p.Asp338CysfsTer13)
c.634_637del (p.Asp212CysfsTer14)
c.637_640del (p.Asp213CysfsTer14)
c.5-18489_5-18486del (n.5-18489_5-18486del)
c.-43-7919_-43-7916del (n.-43-7919_-43-7916del)
c.-98-32250_-98-32247del (n.-98-32250_-98-32247del)
n.215_218del
n.4457_4460del
n.4498_4501del
17g.43082438G>ACA16607611BRCA1c.4323C>T (p.Asp1441=)
c.4197C>T (p.Asp1399=)
c.4317C>T (p.Asp1439=)
c.4245C>T (p.Asp1415=)
c.1011C>T (p.Asp337=)
c.873C>T (p.Asp291=)
c.3435C>T (p.Asp1145=)
c.4200C>T (p.Asp1400=)
c.4182C>T (p.Asp1394=)
c.888C>T (p.Asp296=)
c.933C>T (p.Asp311=)
c.644C>T
c.897C>T (p.Asp299=)
c.*4106C>T (n.*4106C>T)
c.617C>T
c.1014C>T (p.Asp338=)
c.636C>T (p.Asp212=)
c.639C>T (p.Asp213=)
c.5-18487C>T (n.5-18487C>T)
c.-43-7917C>T (n.-43-7917C>T)
c.-98-32248C>T (n.-98-32248C>T)
n.217C>T
n.4459C>T
n.4500C>T
 ClinVar dbSNP
17g.43082438G>CCA10593074BRCA1c.4323C>G (p.Asp1441Glu)
c.4197C>G (p.Asp1399Glu)
c.4317C>G (p.Asp1439Glu)
c.4245C>G (p.Asp1415Glu)
c.1011C>G (p.Asp337Glu)
c.873C>G (p.Asp291Glu)
c.3435C>G (p.Asp1145Glu)
c.4200C>G (p.Asp1400Glu)
c.4182C>G (p.Asp1394Glu)
c.888C>G (p.Asp296Glu)
c.933C>G (p.Asp311Glu)
c.644C>G
c.897C>G (p.Asp299Glu)
c.*4106C>G (n.*4106C>G)
c.617C>G
c.1014C>G (p.Asp338Glu)
c.636C>G (p.Asp212Glu)
c.639C>G (p.Asp213Glu)
c.5-18487C>G (n.5-18487C>G)
c.-43-7917C>G (n.-43-7917C>G)
c.-98-32248C>G (n.-98-32248C>G)
n.217C>G
n.4459C>G
n.4500C>G
 dbSNP
17g.43082438G=CA2260777976BRCA1c.4323C= (p.Asp1441=)
c.4197C= (p.Asp1399=)
c.4317C= (p.Asp1439=)
c.4245C= (p.Asp1415=)
c.1011C= (p.Asp337=)
c.873C= (p.Asp291=)
c.3435C= (p.Asp1145=)
c.4200C= (p.Asp1400=)
c.4182C= (p.Asp1394=)
c.888C= (p.Asp296=)
c.933C= (p.Asp311=)
c.644C=
c.897C= (p.Asp299=)
c.*4106C= (n.*4106C=)
c.617C=
c.1014C= (p.Asp338=)
c.636C= (p.Asp212=)
c.639C= (p.Asp213=)
c.5-18487C= (n.5-18487C=)
c.-43-7917C= (n.-43-7917C=)
c.-98-32248C= (n.-98-32248C=)
n.217C=
n.4459C=
n.4500C=
17g.43082438G>TCA10593075BRCA1c.4323C>A (p.Asp1441Glu)
c.4197C>A (p.Asp1399Glu)
c.4317C>A (p.Asp1439Glu)
c.4245C>A (p.Asp1415Glu)
c.1011C>A (p.Asp337Glu)
c.873C>A (p.Asp291Glu)
c.3435C>A (p.Asp1145Glu)
c.4200C>A (p.Asp1400Glu)
c.4182C>A (p.Asp1394Glu)
c.888C>A (p.Asp296Glu)
c.933C>A (p.Asp311Glu)
c.644C>A
c.897C>A (p.Asp299Glu)
c.*4106C>A (n.*4106C>A)
c.617C>A
c.1014C>A (p.Asp338Glu)
c.636C>A (p.Asp212Glu)
c.639C>A (p.Asp213Glu)
c.5-18487C>A (n.5-18487C>A)
c.-43-7917C>A (n.-43-7917C>A)
c.-98-32248C>A (n.-98-32248C>A)
n.217C>A
n.4459C>A
n.4500C>A
 ClinVar dbSNP
17g.43082438_43082439delinsAAATCCA2825002471BRCA1c.4322_4323delinsGATTT (p.Asp1441delinsGlyPhe)
c.4196_4197delinsGATTT (p.Asp1399delinsGlyPhe)
c.4316_4317delinsGATTT (p.Asp1439delinsGlyPhe)
c.4244_4245delinsGATTT (p.Asp1415delinsGlyPhe)
c.1010_1011delinsGATTT (p.Asp337delinsGlyPhe)
c.872_873delinsGATTT (p.Asp291delinsGlyPhe)
c.3434_3435delinsGATTT (p.Asp1145delinsGlyPhe)
c.4199_4200delinsGATTT (p.Asp1400delinsGlyPhe)
c.4181_4182delinsGATTT (p.Asp1394delinsGlyPhe)
c.887_888delinsGATTT (p.Asp296delinsGlyPhe)
c.932_933delinsGATTT (p.Asp311delinsGlyPhe)
c.643_644delinsGATTT
c.896_897delinsGATTT (p.Asp299delinsGlyPhe)
c.*4105_*4106delinsGATTT (n.*4105_*4106delinsGATTT)
c.616_617delinsGATTT
c.1013_1014delinsGATTT (p.Asp338delinsGlyPhe)
c.635_636delinsGATTT (p.Asp212delinsGlyPhe)
c.638_639delinsGATTT (p.Asp213delinsGlyPhe)
c.5-18488_5-18487delinsGATTT (n.5-18488_5-18487delinsGATTT)
c.-43-7918_-43-7917delinsGATTT (n.-43-7918_-43-7917delinsGATTT)
c.-98-32249_-98-32248delinsGATTT (n.-98-32249_-98-32248delinsGATTT)
n.216_217delinsGATTT
n.4458_4459delinsGATTT
n.4499_4500delinsGATTT
 ClinVar
17g.43082439T>ACA10593076BRCA1c.4322A>T (p.Asp1441Val)
c.4196A>T (p.Asp1399Val)
c.4316A>T (p.Asp1439Val)
c.4244A>T (p.Asp1415Val)
c.1010A>T (p.Asp337Val)
c.872A>T (p.Asp291Val)
c.3434A>T (p.Asp1145Val)
c.4199A>T (p.Asp1400Val)
c.4181A>T (p.Asp1394Val)
c.887A>T (p.Asp296Val)
c.932A>T (p.Asp311Val)
c.643A>T
c.896A>T (p.Asp299Val)
c.*4105A>T (n.*4105A>T)
c.616A>T
c.1013A>T (p.Asp338Val)
c.635A>T (p.Asp212Val)
c.638A>T (p.Asp213Val)
c.5-18488A>T (n.5-18488A>T)
c.-43-7918A>T (n.-43-7918A>T)
c.-98-32249A>T (n.-98-32249A>T)
n.216A>T
n.4458A>T
n.4499A>T
 dbSNP
17g.43082439T>CCA10593077BRCA1c.4322A>G (p.Asp1441Gly)
c.4196A>G (p.Asp1399Gly)
c.4316A>G (p.Asp1439Gly)
c.4244A>G (p.Asp1415Gly)
c.1010A>G (p.Asp337Gly)
c.872A>G (p.Asp291Gly)
c.3434A>G (p.Asp1145Gly)
c.4199A>G (p.Asp1400Gly)
c.4181A>G (p.Asp1394Gly)
c.887A>G (p.Asp296Gly)
c.932A>G (p.Asp311Gly)
c.643A>G
c.896A>G (p.Asp299Gly)
c.*4105A>G (n.*4105A>G)
c.616A>G
c.1013A>G (p.Asp338Gly)
c.635A>G (p.Asp212Gly)
c.638A>G (p.Asp213Gly)
c.5-18488A>G (n.5-18488A>G)
c.-43-7918A>G (n.-43-7918A>G)
c.-98-32249A>G (n.-98-32249A>G)
n.216A>G
n.4458A>G
n.4499A>G
 dbSNP
17g.43082439T>GCA10593078BRCA1c.4322A>C (p.Asp1441Ala)
c.4196A>C (p.Asp1399Ala)
c.4316A>C (p.Asp1439Ala)
c.4244A>C (p.Asp1415Ala)
c.1010A>C (p.Asp337Ala)
c.872A>C (p.Asp291Ala)
c.3434A>C (p.Asp1145Ala)
c.4199A>C (p.Asp1400Ala)
c.4181A>C (p.Asp1394Ala)
c.887A>C (p.Asp296Ala)
c.932A>C (p.Asp311Ala)
c.643A>C
c.896A>C (p.Asp299Ala)
c.*4105A>C (n.*4105A>C)
c.616A>C
c.1013A>C (p.Asp338Ala)
c.635A>C (p.Asp212Ala)
c.638A>C (p.Asp213Ala)
c.5-18488A>C (n.5-18488A>C)
c.-43-7918A>C (n.-43-7918A>C)
c.-98-32249A>C (n.-98-32249A>C)
n.216A>C
n.4458A>C
n.4499A>C
 dbSNP
17g.43082439_43082440delinsTCCA2260777977BRCA1c.4321_4322delinsGA (p.Asp1441=)
c.4195_4196delinsGA (p.Asp1399=)
c.4315_4316delinsGA (p.Asp1439=)
c.4243_4244delinsGA (p.Asp1415=)
c.1009_1010delinsGA (p.Asp337=)
c.871_872delinsGA (p.Asp291=)
c.3433_3434delinsGA (p.Asp1145=)
c.4198_4199delinsGA (p.Asp1400=)
c.4180_4181delinsGA (p.Asp1394=)
c.886_887delinsGA (p.Asp296=)
c.931_932delinsGA (p.Asp311=)
c.642_643delinsGA
c.895_896delinsGA (p.Asp299=)
c.*4104_*4105delinsGA (n.*4104_*4105delinsGA)
c.615_616delinsGA
c.1012_1013delinsGA (p.Asp338=)
c.634_635delinsGA (p.Asp212=)
c.637_638delinsGA (p.Asp213=)
c.5-18489_5-18488delinsGA (n.5-18489_5-18488delinsGA)
c.-43-7919_-43-7918delinsGA (n.-43-7919_-43-7918delinsGA)
c.-98-32250_-98-32249delinsGA (n.-98-32250_-98-32249delinsGA)
n.215_216delinsGA
n.4457_4458delinsGA
n.4498_4499delinsGA
17g.43082440C>ACA10593079BRCA1c.4321G>T (p.Asp1441Tyr)
c.4195G>T (p.Asp1399Tyr)
c.4315G>T (p.Asp1439Tyr)
c.4243G>T (p.Asp1415Tyr)
c.1009G>T (p.Asp337Tyr)
c.871G>T (p.Asp291Tyr)
c.3433G>T (p.Asp1145Tyr)
c.4198G>T (p.Asp1400Tyr)
c.4180G>T (p.Asp1394Tyr)
c.886G>T (p.Asp296Tyr)
c.931G>T (p.Asp311Tyr)
c.642G>T
c.895G>T (p.Asp299Tyr)
c.*4104G>T (n.*4104G>T)
c.615G>T
c.1012G>T (p.Asp338Tyr)
c.634G>T (p.Asp212Tyr)
c.637G>T (p.Asp213Tyr)
c.5-18489G>T (n.5-18489G>T)
c.-43-7919G>T (n.-43-7919G>T)
c.-98-32250G>T (n.-98-32250G>T)
n.215G>T
n.4457G>T
n.4498G>T
 dbSNP
17g.43082440C=CA2260777978BRCA1c.4321G= (p.Asp1441=)
c.4195G= (p.Asp1399=)
c.4315G= (p.Asp1439=)
c.4243G= (p.Asp1415=)
c.1009G= (p.Asp337=)
c.871G= (p.Asp291=)
c.3433G= (p.Asp1145=)
c.4198G= (p.Asp1400=)
c.4180G= (p.Asp1394=)
c.886G= (p.Asp296=)
c.931G= (p.Asp311=)
c.642G=
c.895G= (p.Asp299=)
c.*4104G= (n.*4104G=)
c.615G=
c.1012G= (p.Asp338=)
c.634G= (p.Asp212=)
c.637G= (p.Asp213=)
c.5-18489G= (n.5-18489G=)
c.-43-7919G= (n.-43-7919G=)
c.-98-32250G= (n.-98-32250G=)
n.215G=
n.4457G=
n.4498G=
17g.43082440C>GCA10593080BRCA1c.4321G>C (p.Asp1441His)
c.4195G>C (p.Asp1399His)
c.4315G>C (p.Asp1439His)
c.4243G>C (p.Asp1415His)
c.1009G>C (p.Asp337His)
c.871G>C (p.Asp291His)
c.3433G>C (p.Asp1145His)
c.4198G>C (p.Asp1400His)
c.4180G>C (p.Asp1394His)
c.886G>C (p.Asp296His)
c.931G>C (p.Asp311His)
c.642G>C
c.895G>C (p.Asp299His)
c.*4104G>C (n.*4104G>C)
c.615G>C
c.1012G>C (p.Asp338His)
c.634G>C (p.Asp212His)
c.637G>C (p.Asp213His)
c.5-18489G>C (n.5-18489G>C)
c.-43-7919G>C (n.-43-7919G>C)
c.-98-32250G>C (n.-98-32250G>C)
n.215G>C
n.4457G>C
n.4498G>C
 dbSNP
17g.43082440C>TCA059914BRCA1c.4321G>A (p.Asp1441Asn)
c.4195G>A (p.Asp1399Asn)
c.4315G>A (p.Asp1439Asn)
c.4243G>A (p.Asp1415Asn)
c.1009G>A (p.Asp337Asn)
c.871G>A (p.Asp291Asn)
c.3433G>A (p.Asp1145Asn)
c.4198G>A (p.Asp1400Asn)
c.4180G>A (p.Asp1394Asn)
c.886G>A (p.Asp296Asn)
c.931G>A (p.Asp311Asn)
c.642G>A
c.895G>A (p.Asp299Asn)
c.*4104G>A (n.*4104G>A)
c.615G>A
c.1012G>A (p.Asp338Asn)
c.634G>A (p.Asp212Asn)
c.637G>A (p.Asp213Asn)
c.5-18489G>A (n.5-18489G>A)
c.-43-7919G>A (n.-43-7919G>A)
c.-98-32250G>A (n.-98-32250G>A)
n.215G>A
n.4457G>A
n.4498G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082441dupCA002767BRCA1c.4321dup (p.Asp1441GlyfsTer20)
c.4321dup (p.Asp1441GlyfsTer21)
c.4195dup (p.Asp1399GlyfsTer21)
c.4315dup (p.Asp1439GlyfsTer21)
c.4243dup (p.Asp1415GlyfsTer21)
c.1009dup (p.Asp337GlyfsTer21)
c.871dup (p.Asp291GlyfsTer21)
c.3433dup (p.Asp1145GlyfsTer21)
c.4198dup (p.Asp1400GlyfsTer21)
c.4321dup (p.Asp1441GlyfsTer27)
c.4180dup (p.Asp1394GlyfsTer21)
c.886dup (p.Asp296GlyfsTer20)
c.931dup (p.Asp311GlyfsTer20)
c.642dup
c.895dup (p.Asp299GlyfsTer21)
c.*4104dup (n.*4104dup)
c.615dup
c.1012dup (p.Asp338GlyfsTer20)
c.634dup (p.Asp212GlyfsTer21)
c.637dup (p.Asp213GlyfsTer21)
c.5-18489dup (n.5-18489dup)
c.-43-7919dup (n.-43-7919dup)
c.-98-32250dup (n.-98-32250dup)
n.215dup
n.4457dup
n.4498dup
 ClinVar dbSNP
17g.43082441delCA915950055BRCA1c.4321del (p.Asp1441ThrfsTer14)
c.4321del (p.Asp1441ThrfsTer15)
c.4195del (p.Asp1399ThrfsTer15)
c.4315del (p.Asp1439ThrfsTer15)
c.4243del (p.Asp1415ThrfsTer15)
c.1009del (p.Asp337ThrfsTer15)
c.871del (p.Asp291ThrfsTer15)
c.3433del (p.Asp1145ThrfsTer15)
c.4198del (p.Asp1400ThrfsTer15)
c.4321del (p.Asp1441ThrfsTer?)
c.4180del (p.Asp1394ThrfsTer15)
c.886del (p.Asp296ThrfsTer14)
c.931del (p.Asp311ThrfsTer14)
c.642del
c.895del (p.Asp299ThrfsTer15)
c.*4104del (n.*4104del)
c.615del
c.1012del (p.Asp338ThrfsTer14)
c.634del (p.Asp212ThrfsTer15)
c.637del (p.Asp213ThrfsTer15)
c.5-18489del (n.5-18489del)
c.-43-7919del (n.-43-7919del)
c.-98-32250del (n.-98-32250del)
n.215del
n.4457del
n.4498del
 ClinVar dbSNP
17g.43082441C>ACA10593081BRCA1c.4320G>T (p.Glu1440Asp)
c.4194G>T (p.Glu1398Asp)
c.4314G>T (p.Glu1438Asp)
c.4242G>T (p.Glu1414Asp)
c.1008G>T (p.Glu336Asp)
c.870G>T (p.Glu290Asp)
c.3432G>T (p.Glu1144Asp)
c.4197G>T (p.Glu1399Asp)
c.4179G>T (p.Glu1393Asp)
c.885G>T (p.Glu295Asp)
c.930G>T (p.Glu310Asp)
c.641G>T
c.894G>T (p.Glu298Asp)
c.*4103G>T (n.*4103G>T)
c.614G>T
c.1011G>T (p.Glu337Asp)
c.633G>T (p.Glu211Asp)
c.636G>T (p.Glu212Asp)
c.5-18490G>T (n.5-18490G>T)
c.-43-7920G>T (n.-43-7920G>T)
c.-98-32251G>T (n.-98-32251G>T)
n.214G>T
n.4456G>T
n.4497G>T
 dbSNP
17g.43082441C>GCA10593082BRCA1c.4320G>C (p.Glu1440Asp)
c.4194G>C (p.Glu1398Asp)
c.4314G>C (p.Glu1438Asp)
c.4242G>C (p.Glu1414Asp)
c.1008G>C (p.Glu336Asp)
c.870G>C (p.Glu290Asp)
c.3432G>C (p.Glu1144Asp)
c.4197G>C (p.Glu1399Asp)
c.4179G>C (p.Glu1393Asp)
c.885G>C (p.Glu295Asp)
c.930G>C (p.Glu310Asp)
c.641G>C
c.894G>C (p.Glu298Asp)
c.*4103G>C (n.*4103G>C)
c.614G>C
c.1011G>C (p.Glu337Asp)
c.633G>C (p.Glu211Asp)
c.636G>C (p.Glu212Asp)
c.5-18490G>C (n.5-18490G>C)
c.-43-7920G>C (n.-43-7920G>C)
c.-98-32251G>C (n.-98-32251G>C)
n.214G>C
n.4456G>C
n.4497G>C
 dbSNP
17g.43082441C>TCA500148364BRCA1c.4320G>A (p.Glu1440=)
c.4194G>A (p.Glu1398=)
c.4314G>A (p.Glu1438=)
c.4242G>A (p.Glu1414=)
c.1008G>A (p.Glu336=)
c.870G>A (p.Glu290=)
c.3432G>A (p.Glu1144=)
c.4197G>A (p.Glu1399=)
c.4179G>A (p.Glu1393=)
c.885G>A (p.Glu295=)
c.930G>A (p.Glu310=)
c.641G>A
c.894G>A (p.Glu298=)
c.*4103G>A (n.*4103G>A)
c.614G>A
c.1011G>A (p.Glu337=)
c.633G>A (p.Glu211=)
c.636G>A (p.Glu212=)
c.5-18490G>A (n.5-18490G>A)
c.-43-7920G>A (n.-43-7920G>A)
c.-98-32251G>A (n.-98-32251G>A)
n.214G>A
n.4456G>A
n.4497G>A
 dbSNP gnomAD v4
17g.43082442T>ACA10593083BRCA1c.4319A>T (p.Glu1440Val)
c.4193A>T (p.Glu1398Val)
c.4313A>T (p.Glu1438Val)
c.4241A>T (p.Glu1414Val)
c.1007A>T (p.Glu336Val)
c.869A>T (p.Glu290Val)
c.3431A>T (p.Glu1144Val)
c.4196A>T (p.Glu1399Val)
c.4178A>T (p.Glu1393Val)
c.884A>T (p.Glu295Val)
c.929A>T (p.Glu310Val)
c.640A>T
c.893A>T (p.Glu298Val)
c.*4102A>T (n.*4102A>T)
c.613A>T
c.1010A>T (p.Glu337Val)
c.632A>T (p.Glu211Val)
c.635A>T (p.Glu212Val)
c.5-18491A>T (n.5-18491A>T)
c.-43-7921A>T (n.-43-7921A>T)
c.-98-32252A>T (n.-98-32252A>T)
n.213A>T
n.4455A>T
n.4496A>T
 dbSNP
17g.43082442T>CCA002765BRCA1c.4319A>G (p.Glu1440Gly)
c.4193A>G (p.Glu1398Gly)
c.4313A>G (p.Glu1438Gly)
c.4241A>G (p.Glu1414Gly)
c.1007A>G (p.Glu336Gly)
c.869A>G (p.Glu290Gly)
c.3431A>G (p.Glu1144Gly)
c.4196A>G (p.Glu1399Gly)
c.4178A>G (p.Glu1393Gly)
c.884A>G (p.Glu295Gly)
c.929A>G (p.Glu310Gly)
c.640A>G
c.893A>G (p.Glu298Gly)
c.*4102A>G (n.*4102A>G)
c.613A>G
c.1010A>G (p.Glu337Gly)
c.632A>G (p.Glu211Gly)
c.635A>G (p.Glu212Gly)
c.5-18491A>G (n.5-18491A>G)
c.-43-7921A>G (n.-43-7921A>G)
c.-98-32252A>G (n.-98-32252A>G)
n.213A>G
n.4455A>G
n.4496A>G
 ClinVar dbSNP
17g.43082442T>GCA10593084BRCA1c.4319A>C (p.Glu1440Ala)
c.4193A>C (p.Glu1398Ala)
c.4313A>C (p.Glu1438Ala)
c.4241A>C (p.Glu1414Ala)
c.1007A>C (p.Glu336Ala)
c.869A>C (p.Glu290Ala)
c.3431A>C (p.Glu1144Ala)
c.4196A>C (p.Glu1399Ala)
c.4178A>C (p.Glu1393Ala)
c.884A>C (p.Glu295Ala)
c.929A>C (p.Glu310Ala)
c.640A>C
c.893A>C (p.Glu298Ala)
c.*4102A>C (n.*4102A>C)
c.613A>C
c.1010A>C (p.Glu337Ala)
c.632A>C (p.Glu211Ala)
c.635A>C (p.Glu212Ala)
c.5-18491A>C (n.5-18491A>C)
c.-43-7921A>C (n.-43-7921A>C)
c.-98-32252A>C (n.-98-32252A>C)
n.213A>C
n.4455A>C
n.4496A>C
17g.43082442T=CA2260777979BRCA1c.4319A= (p.Glu1440=)
c.4193A= (p.Glu1398=)
c.4313A= (p.Glu1438=)
c.4241A= (p.Glu1414=)
c.1007A= (p.Glu336=)
c.869A= (p.Glu290=)
c.3431A= (p.Glu1144=)
c.4196A= (p.Glu1399=)
c.4178A= (p.Glu1393=)
c.884A= (p.Glu295=)
c.929A= (p.Glu310=)
c.640A=
c.893A= (p.Glu298=)
c.*4102A= (n.*4102A=)
c.613A=
c.1010A= (p.Glu337=)
c.632A= (p.Glu211=)
c.635A= (p.Glu212=)
c.5-18491A= (n.5-18491A=)
c.-43-7921A= (n.-43-7921A=)
c.-98-32252A= (n.-98-32252A=)
n.213A=
n.4455A=
n.4496A=
17g.43082443C>ACA10593085BRCA1c.4318G>T (p.Glu1440Ter)
c.4192G>T (p.Glu1398Ter)
c.4312G>T (p.Glu1438Ter)
c.4240G>T (p.Glu1414Ter)
c.1006G>T (p.Glu336Ter)
c.868G>T (p.Glu290Ter)
c.3430G>T (p.Glu1144Ter)
c.4195G>T (p.Glu1399Ter)
c.4177G>T (p.Glu1393Ter)
c.883G>T (p.Glu295Ter)
c.928G>T (p.Glu310Ter)
c.639G>T
c.892G>T (p.Glu298Ter)
c.*4101G>T (n.*4101G>T)
c.612G>T
c.1009G>T (p.Glu337Ter)
c.631G>T (p.Glu211Ter)
c.634G>T (p.Glu212Ter)
c.5-18492G>T (n.5-18492G>T)
c.-43-7922G>T (n.-43-7922G>T)
c.-98-32253G>T (n.-98-32253G>T)
n.212G>T
n.4454G>T
n.4495G>T
 dbSNP
17g.43082443C=CA2260777980BRCA1c.4318G= (p.Glu1440=)
c.4192G= (p.Glu1398=)
c.4312G= (p.Glu1438=)
c.4240G= (p.Glu1414=)
c.1006G= (p.Glu336=)
c.868G= (p.Glu290=)
c.3430G= (p.Glu1144=)
c.4195G= (p.Glu1399=)
c.4177G= (p.Glu1393=)
c.883G= (p.Glu295=)
c.928G= (p.Glu310=)
c.639G=
c.892G= (p.Glu298=)
c.*4101G= (n.*4101G=)
c.612G=
c.1009G= (p.Glu337=)
c.631G= (p.Glu211=)
c.634G= (p.Glu212=)
c.5-18492G= (n.5-18492G=)
c.-43-7922G= (n.-43-7922G=)
c.-98-32253G= (n.-98-32253G=)
n.212G=
n.4454G=
n.4495G=
17g.43082443C>GCA10593086BRCA1c.4318G>C (p.Glu1440Gln)
c.4192G>C (p.Glu1398Gln)
c.4312G>C (p.Glu1438Gln)
c.4240G>C (p.Glu1414Gln)
c.1006G>C (p.Glu336Gln)
c.868G>C (p.Glu290Gln)
c.3430G>C (p.Glu1144Gln)
c.4195G>C (p.Glu1399Gln)
c.4177G>C (p.Glu1393Gln)
c.883G>C (p.Glu295Gln)
c.928G>C (p.Glu310Gln)
c.639G>C
c.892G>C (p.Glu298Gln)
c.*4101G>C (n.*4101G>C)
c.612G>C
c.1009G>C (p.Glu337Gln)
c.631G>C (p.Glu211Gln)
c.634G>C (p.Glu212Gln)
c.5-18492G>C (n.5-18492G>C)
c.-43-7922G>C (n.-43-7922G>C)
c.-98-32253G>C (n.-98-32253G>C)
n.212G>C
n.4454G>C
n.4495G>C
 ClinVar dbSNP
17g.43082443C>TCA10593087BRCA1c.4318G>A (p.Glu1440Lys)
c.4192G>A (p.Glu1398Lys)
c.4312G>A (p.Glu1438Lys)
c.4240G>A (p.Glu1414Lys)
c.1006G>A (p.Glu336Lys)
c.868G>A (p.Glu290Lys)
c.3430G>A (p.Glu1144Lys)
c.4195G>A (p.Glu1399Lys)
c.4177G>A (p.Glu1393Lys)
c.883G>A (p.Glu295Lys)
c.928G>A (p.Glu310Lys)
c.639G>A
c.892G>A (p.Glu298Lys)
c.*4101G>A (n.*4101G>A)
c.612G>A
c.1009G>A (p.Glu337Lys)
c.631G>A (p.Glu211Lys)
c.634G>A (p.Glu212Lys)
c.5-18492G>A (n.5-18492G>A)
c.-43-7922G>A (n.-43-7922G>A)
c.-98-32253G>A (n.-98-32253G>A)
n.212G>A
n.4454G>A
n.4495G>A
 ClinVar dbSNP
17g.43082444A>CCA500148365BRCA1c.4317T>G (p.Leu1439=)
c.4191T>G (p.Leu1397=)
c.4311T>G (p.Leu1437=)
c.4239T>G (p.Leu1413=)
c.1005T>G (p.Leu335=)
c.867T>G (p.Leu289=)
c.3429T>G (p.Leu1143=)
c.4194T>G (p.Leu1398=)
c.4176T>G (p.Leu1392=)
c.882T>G (p.Leu294=)
c.927T>G (p.Leu309=)
c.638T>G
c.891T>G (p.Leu297=)
c.*4100T>G (n.*4100T>G)
c.611T>G
c.1008T>G (p.Leu336=)
c.630T>G (p.Leu210=)
c.633T>G (p.Leu211=)
c.5-18493T>G (n.5-18493T>G)
c.-43-7923T>G (n.-43-7923T>G)
c.-98-32254T>G (n.-98-32254T>G)
n.211T>G
n.4453T>G
n.4494T>G
17g.43082444A>GCA500148366BRCA1c.4317T>C (p.Leu1439=)
c.4191T>C (p.Leu1397=)
c.4311T>C (p.Leu1437=)
c.4239T>C (p.Leu1413=)
c.1005T>C (p.Leu335=)
c.867T>C (p.Leu289=)
c.3429T>C (p.Leu1143=)
c.4194T>C (p.Leu1398=)
c.4176T>C (p.Leu1392=)
c.882T>C (p.Leu294=)
c.927T>C (p.Leu309=)
c.638T>C
c.891T>C (p.Leu297=)
c.*4100T>C (n.*4100T>C)
c.611T>C
c.1008T>C (p.Leu336=)
c.630T>C (p.Leu210=)
c.633T>C (p.Leu211=)
c.5-18493T>C (n.5-18493T>C)
c.-43-7923T>C (n.-43-7923T>C)
c.-98-32254T>C (n.-98-32254T>C)
n.211T>C
n.4453T>C
n.4494T>C
 ClinVar dbSNP gnomAD v4
17g.43082444A>TCA500148367BRCA1c.4317T>A (p.Leu1439=)
c.4191T>A (p.Leu1397=)
c.4311T>A (p.Leu1437=)
c.4239T>A (p.Leu1413=)
c.1005T>A (p.Leu335=)
c.867T>A (p.Leu289=)
c.3429T>A (p.Leu1143=)
c.4194T>A (p.Leu1398=)
c.4176T>A (p.Leu1392=)
c.882T>A (p.Leu294=)
c.927T>A (p.Leu309=)
c.638T>A
c.891T>A (p.Leu297=)
c.*4100T>A (n.*4100T>A)
c.611T>A
c.1008T>A (p.Leu336=)
c.630T>A (p.Leu210=)
c.633T>A (p.Leu211=)
c.5-18493T>A (n.5-18493T>A)
c.-43-7923T>A (n.-43-7923T>A)
c.-98-32254T>A (n.-98-32254T>A)
n.211T>A
n.4453T>A
n.4494T>A
 dbSNP
17g.43082445dupCA2580612615BRCA1c.4317dup (p.Glu1440Ter)
c.4191dup (p.Glu1398Ter)
c.4311dup (p.Glu1438Ter)
c.4239dup (p.Glu1414Ter)
c.1005dup (p.Glu336Ter)
c.867dup (p.Glu290Ter)
c.3429dup (p.Glu1144Ter)
c.4194dup (p.Glu1399Ter)
c.4176dup (p.Glu1393Ter)
c.882dup (p.Glu295Ter)
c.927dup (p.Glu310Ter)
c.638dup
c.891dup (p.Glu298Ter)
c.*4100dup (n.*4100dup)
c.611dup
c.1008dup (p.Glu337Ter)
c.630dup (p.Glu211Ter)
c.633dup (p.Glu212Ter)
c.5-18493dup (n.5-18493dup)
c.-43-7923dup (n.-43-7923dup)
c.-98-32254dup (n.-98-32254dup)
n.211dup
n.4453dup
n.4494dup
 ClinVar
17g.43082445A>CCA10593088BRCA1c.4316T>G (p.Leu1439Arg)
c.4190T>G (p.Leu1397Arg)
c.4310T>G (p.Leu1437Arg)
c.4238T>G (p.Leu1413Arg)
c.1004T>G (p.Leu335Arg)
c.866T>G (p.Leu289Arg)
c.3428T>G (p.Leu1143Arg)
c.4193T>G (p.Leu1398Arg)
c.4175T>G (p.Leu1392Arg)
c.881T>G (p.Leu294Arg)
c.926T>G (p.Leu309Arg)
c.637T>G
c.890T>G (p.Leu297Arg)
c.*4099T>G (n.*4099T>G)
c.610T>G
c.1007T>G (p.Leu336Arg)
c.629T>G (p.Leu210Arg)
c.632T>G (p.Leu211Arg)
c.5-18494T>G (n.5-18494T>G)
c.-43-7924T>G (n.-43-7924T>G)
c.-98-32255T>G (n.-98-32255T>G)
n.210T>G
n.4452T>G
n.4493T>G
17g.43082445A>GCA10593089BRCA1c.4316T>C (p.Leu1439Pro)
c.4190T>C (p.Leu1397Pro)
c.4310T>C (p.Leu1437Pro)
c.4238T>C (p.Leu1413Pro)
c.1004T>C (p.Leu335Pro)
c.866T>C (p.Leu289Pro)
c.3428T>C (p.Leu1143Pro)
c.4193T>C (p.Leu1398Pro)
c.4175T>C (p.Leu1392Pro)
c.881T>C (p.Leu294Pro)
c.926T>C (p.Leu309Pro)
c.637T>C
c.890T>C (p.Leu297Pro)
c.*4099T>C (n.*4099T>C)
c.610T>C
c.1007T>C (p.Leu336Pro)
c.629T>C (p.Leu210Pro)
c.632T>C (p.Leu211Pro)
c.5-18494T>C (n.5-18494T>C)
c.-43-7924T>C (n.-43-7924T>C)
c.-98-32255T>C (n.-98-32255T>C)
n.210T>C
n.4452T>C
n.4493T>C
 ClinVar dbSNP
17g.43082445A>TCA10593090BRCA1c.4316T>A (p.Leu1439His)
c.4190T>A (p.Leu1397His)
c.4310T>A (p.Leu1437His)
c.4238T>A (p.Leu1413His)
c.1004T>A (p.Leu335His)
c.866T>A (p.Leu289His)
c.3428T>A (p.Leu1143His)
c.4193T>A (p.Leu1398His)
c.4175T>A (p.Leu1392His)
c.881T>A (p.Leu294His)
c.926T>A (p.Leu309His)
c.637T>A
c.890T>A (p.Leu297His)
c.*4099T>A (n.*4099T>A)
c.610T>A
c.1007T>A (p.Leu336His)
c.629T>A (p.Leu210His)
c.632T>A (p.Leu211His)
c.5-18494T>A (n.5-18494T>A)
c.-43-7924T>A (n.-43-7924T>A)
c.-98-32255T>A (n.-98-32255T>A)
n.210T>A
n.4452T>A
n.4493T>A
 dbSNP
17g.43082446G>ACA059903BRCA1c.4315C>T (p.Leu1439Phe)
c.4189C>T (p.Leu1397Phe)
c.4309C>T (p.Leu1437Phe)
c.4237C>T (p.Leu1413Phe)
c.1003C>T (p.Leu335Phe)
c.865C>T (p.Leu289Phe)
c.3427C>T (p.Leu1143Phe)
c.4192C>T (p.Leu1398Phe)
c.4174C>T (p.Leu1392Phe)
c.880C>T (p.Leu294Phe)
c.925C>T (p.Leu309Phe)
c.636C>T
c.889C>T (p.Leu297Phe)
c.*4098C>T (n.*4098C>T)
c.609C>T
c.1006C>T (p.Leu336Phe)
c.628C>T (p.Leu210Phe)
c.631C>T (p.Leu211Phe)
c.5-18495C>T (n.5-18495C>T)
c.-43-7925C>T (n.-43-7925C>T)
c.-98-32256C>T (n.-98-32256C>T)
n.209C>T
n.4451C>T
n.4492C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.43082446G>CCA10593091BRCA1c.4315C>G (p.Leu1439Val)
c.4189C>G (p.Leu1397Val)
c.4309C>G (p.Leu1437Val)
c.4237C>G (p.Leu1413Val)
c.1003C>G (p.Leu335Val)
c.865C>G (p.Leu289Val)
c.3427C>G (p.Leu1143Val)
c.4192C>G (p.Leu1398Val)
c.4174C>G (p.Leu1392Val)
c.880C>G (p.Leu294Val)
c.925C>G (p.Leu309Val)
c.636C>G
c.889C>G (p.Leu297Val)
c.*4098C>G (n.*4098C>G)
c.609C>G
c.1006C>G (p.Leu336Val)
c.628C>G (p.Leu210Val)
c.631C>G (p.Leu211Val)
c.5-18495C>G (n.5-18495C>G)
c.-43-7925C>G (n.-43-7925C>G)
c.-98-32256C>G (n.-98-32256C>G)
n.209C>G
n.4451C>G
n.4492C>G
 ClinVar dbSNP
17g.43082446G=CA2260777981BRCA1c.4315C= (p.Leu1439=)
c.4189C= (p.Leu1397=)
c.4309C= (p.Leu1437=)
c.4237C= (p.Leu1413=)
c.1003C= (p.Leu335=)
c.865C= (p.Leu289=)
c.3427C= (p.Leu1143=)
c.4192C= (p.Leu1398=)
c.4174C= (p.Leu1392=)
c.880C= (p.Leu294=)
c.925C= (p.Leu309=)
c.636C=
c.889C= (p.Leu297=)
c.*4098C= (n.*4098C=)
c.609C=
c.1006C= (p.Leu336=)
c.628C= (p.Leu210=)
c.631C= (p.Leu211=)
c.5-18495C= (n.5-18495C=)
c.-43-7925C= (n.-43-7925C=)
c.-98-32256C= (n.-98-32256C=)
n.209C=
n.4451C=
n.4492C=
17g.43082446G>TCA10593092BRCA1c.4315C>A (p.Leu1439Ile)
c.4189C>A (p.Leu1397Ile)
c.4309C>A (p.Leu1437Ile)
c.4237C>A (p.Leu1413Ile)
c.1003C>A (p.Leu335Ile)
c.865C>A (p.Leu289Ile)
c.3427C>A (p.Leu1143Ile)
c.4192C>A (p.Leu1398Ile)
c.4174C>A (p.Leu1392Ile)
c.880C>A (p.Leu294Ile)
c.925C>A (p.Leu309Ile)
c.636C>A
c.889C>A (p.Leu297Ile)
c.*4098C>A (n.*4098C>A)
c.609C>A
c.1006C>A (p.Leu336Ile)
c.628C>A (p.Leu210Ile)
c.631C>A (p.Leu211Ile)
c.5-18495C>A (n.5-18495C>A)
c.-43-7925C>A (n.-43-7925C>A)
c.-98-32256C>A (n.-98-32256C>A)
n.209C>A
n.4451C>A
n.4492C>A
 dbSNP
17g.43082448delCA501073BRCA1c.4315del (p.Glu1440ArgfsTer15)
c.4315del (p.Glu1440ArgfsTer16)
c.4189del (p.Glu1398ArgfsTer16)
c.4309del (p.Glu1438ArgfsTer16)
c.4237del (p.Glu1414ArgfsTer16)
c.1003del (p.Glu336ArgfsTer16)
c.865del (p.Glu290ArgfsTer16)
c.3427del (p.Glu1144ArgfsTer16)
c.4192del (p.Glu1399ArgfsTer16)
c.4315del (p.Glu1440ArgfsTer?)
c.4174del (p.Glu1393ArgfsTer16)
c.880del (p.Glu295ArgfsTer15)
c.925del (p.Glu310ArgfsTer15)
c.636del
c.889del (p.Glu298ArgfsTer16)
c.*4098del (n.*4098del)
c.609del
c.1006del (p.Glu337ArgfsTer15)
c.628del (p.Glu211ArgfsTer16)
c.631del (p.Glu212ArgfsTer16)
c.5-18495del (n.5-18495del)
c.-43-7925del (n.-43-7925del)
c.-98-32256del (n.-98-32256del)
n.209del
n.4451del
n.4492del
17g.43082447G>ACA500148368BRCA1c.4314C>T (p.Ala1438=)
c.4188C>T (p.Ala1396=)
c.4308C>T (p.Ala1436=)
c.4236C>T (p.Ala1412=)
c.1002C>T (p.Ala334=)
c.864C>T (p.Ala288=)
c.3426C>T (p.Ala1142=)
c.4191C>T (p.Ala1397=)
c.4173C>T (p.Ala1391=)
c.879C>T (p.Ala293=)
c.924C>T (p.Ala308=)
c.635C>T
c.888C>T (p.Ala296=)
c.*4097C>T (n.*4097C>T)
c.608C>T
c.1005C>T (p.Ala335=)
c.627C>T (p.Ala209=)
c.630C>T (p.Ala210=)
c.5-18496C>T (n.5-18496C>T)
c.-43-7926C>T (n.-43-7926C>T)
c.-98-32257C>T (n.-98-32257C>T)
n.208C>T
n.4450C>T
n.4491C>T
 dbSNP
17g.43082447G>CCA002764BRCA1c.4314C>G (p.Ala1438=)
c.4188C>G (p.Ala1396=)
c.4308C>G (p.Ala1436=)
c.4236C>G (p.Ala1412=)
c.1002C>G (p.Ala334=)
c.864C>G (p.Ala288=)
c.3426C>G (p.Ala1142=)
c.4191C>G (p.Ala1397=)
c.4173C>G (p.Ala1391=)
c.879C>G (p.Ala293=)
c.924C>G (p.Ala308=)
c.635C>G
c.888C>G (p.Ala296=)
c.*4097C>G (n.*4097C>G)
c.608C>G
c.1005C>G (p.Ala335=)
c.627C>G (p.Ala209=)
c.630C>G (p.Ala210=)
c.5-18496C>G (n.5-18496C>G)
c.-43-7926C>G (n.-43-7926C>G)
c.-98-32257C>G (n.-98-32257C>G)
n.208C>G
n.4450C>G
n.4491C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43082447G=CA2260777982BRCA1c.4314C= (p.Ala1438=)
c.4188C= (p.Ala1396=)
c.4308C= (p.Ala1436=)
c.4236C= (p.Ala1412=)
c.1002C= (p.Ala334=)
c.864C= (p.Ala288=)
c.3426C= (p.Ala1142=)
c.4191C= (p.Ala1397=)
c.4173C= (p.Ala1391=)
c.879C= (p.Ala293=)
c.924C= (p.Ala308=)
c.635C=
c.888C= (p.Ala296=)
c.*4097C= (n.*4097C=)
c.608C=
c.1005C= (p.Ala335=)
c.627C= (p.Ala209=)
c.630C= (p.Ala210=)
c.5-18496C= (n.5-18496C=)
c.-43-7926C= (n.-43-7926C=)
c.-98-32257C= (n.-98-32257C=)
n.208C=
n.4450C=
n.4491C=
17g.43082447G>TCA500148369BRCA1c.4314C>A (p.Ala1438=)
c.4188C>A (p.Ala1396=)
c.4308C>A (p.Ala1436=)
c.4236C>A (p.Ala1412=)
c.1002C>A (p.Ala334=)
c.864C>A (p.Ala288=)
c.3426C>A (p.Ala1142=)
c.4191C>A (p.Ala1397=)
c.4173C>A (p.Ala1391=)
c.879C>A (p.Ala293=)
c.924C>A (p.Ala308=)
c.635C>A
c.888C>A (p.Ala296=)
c.*4097C>A (n.*4097C>A)
c.608C>A
c.1005C>A (p.Ala335=)
c.627C>A (p.Ala209=)
c.630C>A (p.Ala210=)
c.5-18496C>A (n.5-18496C>A)
c.-43-7926C>A (n.-43-7926C>A)
c.-98-32257C>A (n.-98-32257C>A)
n.208C>A
n.4450C>A
n.4491C>A
 ClinVar dbSNP
17g.43082448G>ACA10593093BRCA1c.4313C>T (p.Ala1438Val)
c.4187C>T (p.Ala1396Val)
c.4307C>T (p.Ala1436Val)
c.4235C>T (p.Ala1412Val)
c.1001C>T (p.Ala334Val)
c.863C>T (p.Ala288Val)
c.3425C>T (p.Ala1142Val)
c.4190C>T (p.Ala1397Val)
c.4172C>T (p.Ala1391Val)
c.878C>T (p.Ala293Val)
c.923C>T (p.Ala308Val)
c.634C>T
c.887C>T (p.Ala296Val)
c.*4096C>T (n.*4096C>T)
c.607C>T
c.1004C>T (p.Ala335Val)
c.626C>T (p.Ala209Val)
c.629C>T (p.Ala210Val)
c.5-18497C>T (n.5-18497C>T)
c.-43-7927C>T (n.-43-7927C>T)
c.-98-32258C>T (n.-98-32258C>T)
n.207C>T
n.4449C>T
n.4490C>T
 ClinVar dbSNP
17g.43082448G>CCA10593094BRCA1c.4313C>G (p.Ala1438Gly)
c.4187C>G (p.Ala1396Gly)
c.4307C>G (p.Ala1436Gly)
c.4235C>G (p.Ala1412Gly)
c.1001C>G (p.Ala334Gly)
c.863C>G (p.Ala288Gly)
c.3425C>G (p.Ala1142Gly)
c.4190C>G (p.Ala1397Gly)
c.4172C>G (p.Ala1391Gly)
c.878C>G (p.Ala293Gly)
c.923C>G (p.Ala308Gly)
c.634C>G
c.887C>G (p.Ala296Gly)
c.*4096C>G (n.*4096C>G)
c.607C>G
c.1004C>G (p.Ala335Gly)
c.626C>G (p.Ala209Gly)
c.629C>G (p.Ala210Gly)
c.5-18497C>G (n.5-18497C>G)
c.-43-7927C>G (n.-43-7927C>G)
c.-98-32258C>G (n.-98-32258C>G)
n.207C>G
n.4449C>G
n.4490C>G
 dbSNP
17g.43082448G>TCA10593095BRCA1c.4313C>A (p.Ala1438Asp)
c.4187C>A (p.Ala1396Asp)
c.4307C>A (p.Ala1436Asp)
c.4235C>A (p.Ala1412Asp)
c.1001C>A (p.Ala334Asp)
c.863C>A (p.Ala288Asp)
c.3425C>A (p.Ala1142Asp)
c.4190C>A (p.Ala1397Asp)
c.4172C>A (p.Ala1391Asp)
c.878C>A (p.Ala293Asp)
c.923C>A (p.Ala308Asp)
c.634C>A
c.887C>A (p.Ala296Asp)
c.*4096C>A (n.*4096C>A)
c.607C>A
c.1004C>A (p.Ala335Asp)
c.626C>A (p.Ala209Asp)
c.629C>A (p.Ala210Asp)
c.5-18497C>A (n.5-18497C>A)
c.-43-7927C>A (n.-43-7927C>A)
c.-98-32258C>A (n.-98-32258C>A)
n.207C>A
n.4449C>A
n.4490C>A
 dbSNP
17g.43082449C>ACA10593096BRCA1c.4312G>T (p.Ala1438Ser)
c.4186G>T (p.Ala1396Ser)
c.4306G>T (p.Ala1436Ser)
c.4234G>T (p.Ala1412Ser)
c.1000G>T (p.Ala334Ser)
c.862G>T (p.Ala288Ser)
c.3424G>T (p.Ala1142Ser)
c.4189G>T (p.Ala1397Ser)
c.4171G>T (p.Ala1391Ser)
c.877G>T (p.Ala293Ser)
c.922G>T (p.Ala308Ser)
c.633G>T
c.886G>T (p.Ala296Ser)
c.*4095G>T (n.*4095G>T)
c.606G>T
c.1003G>T (p.Ala335Ser)
c.625G>T (p.Ala209Ser)
c.628G>T (p.Ala210Ser)
c.5-18498G>T (n.5-18498G>T)
c.-43-7928G>T (n.-43-7928G>T)
c.-98-32259G>T (n.-98-32259G>T)
n.206G>T
n.4448G>T
n.4489G>T
 dbSNP
17g.43082449C=CA2260777983BRCA1c.4312G= (p.Ala1438=)
c.4186G= (p.Ala1396=)
c.4306G= (p.Ala1436=)
c.4234G= (p.Ala1412=)
c.1000G= (p.Ala334=)
c.862G= (p.Ala288=)
c.3424G= (p.Ala1142=)
c.4189G= (p.Ala1397=)
c.4171G= (p.Ala1391=)
c.877G= (p.Ala293=)
c.922G= (p.Ala308=)
c.633G=
c.886G= (p.Ala296=)
c.*4095G= (n.*4095G=)
c.606G=
c.1003G= (p.Ala335=)
c.625G= (p.Ala209=)
c.628G= (p.Ala210=)
c.5-18498G= (n.5-18498G=)
c.-43-7928G= (n.-43-7928G=)
c.-98-32259G= (n.-98-32259G=)
n.206G=
n.4448G=
n.4489G=
17g.43082449C>GCA10593097BRCA1c.4312G>C (p.Ala1438Pro)
c.4186G>C (p.Ala1396Pro)
c.4306G>C (p.Ala1436Pro)
c.4234G>C (p.Ala1412Pro)
c.1000G>C (p.Ala334Pro)
c.862G>C (p.Ala288Pro)
c.3424G>C (p.Ala1142Pro)
c.4189G>C (p.Ala1397Pro)
c.4171G>C (p.Ala1391Pro)
c.877G>C (p.Ala293Pro)
c.922G>C (p.Ala308Pro)
c.633G>C
c.886G>C (p.Ala296Pro)
c.*4095G>C (n.*4095G>C)
c.606G>C
c.1003G>C (p.Ala335Pro)
c.625G>C (p.Ala209Pro)
c.628G>C (p.Ala210Pro)
c.5-18498G>C (n.5-18498G>C)
c.-43-7928G>C (n.-43-7928G>C)
c.-98-32259G>C (n.-98-32259G>C)
n.206G>C
n.4448G>C
n.4489G>C
 dbSNP
17g.43082449C>TCA10593098BRCA1c.4312G>A (p.Ala1438Thr)
c.4186G>A (p.Ala1396Thr)
c.4306G>A (p.Ala1436Thr)
c.4234G>A (p.Ala1412Thr)
c.1000G>A (p.Ala334Thr)
c.862G>A (p.Ala288Thr)
c.3424G>A (p.Ala1142Thr)
c.4189G>A (p.Ala1397Thr)
c.4171G>A (p.Ala1391Thr)
c.877G>A (p.Ala293Thr)
c.922G>A (p.Ala308Thr)
c.633G>A
c.886G>A (p.Ala296Thr)
c.*4095G>A (n.*4095G>A)
c.606G>A
c.1003G>A (p.Ala335Thr)
c.625G>A (p.Ala209Thr)
c.628G>A (p.Ala210Thr)
c.5-18498G>A (n.5-18498G>A)
c.-43-7928G>A (n.-43-7928G>A)
c.-98-32259G>A (n.-98-32259G>A)
n.206G>A
n.4448G>A
n.4489G>A
 ClinVar dbSNP
17g.43082450A=CA2260777985BRCA1c.4311T= (p.Ser1437=)
c.4185T= (p.Ser1395=)
c.4305T= (p.Ser1435=)
c.4233T= (p.Ser1411=)
c.999T= (p.Ser333=)
c.861T= (p.Ser287=)
c.3423T= (p.Ser1141=)
c.4188T= (p.Ser1396=)
c.4170T= (p.Ser1390=)
c.876T= (p.Ser292=)
c.921T= (p.Ser307=)
c.632T=
c.885T= (p.Ser295=)
c.*4094T= (n.*4094T=)
c.605T=
c.1002T= (p.Ser334=)
c.624T= (p.Ser208=)
c.627T= (p.Ser209=)
c.5-18499T= (n.5-18499T=)
c.-43-7929T= (n.-43-7929T=)
c.-98-32260T= (n.-98-32260T=)
n.205T=
n.4447T=
n.4488T=
17g.43082450A>CCA500148370BRCA1c.4311T>G (p.Ser1437=)
c.4185T>G (p.Ser1395=)
c.4305T>G (p.Ser1435=)
c.4233T>G (p.Ser1411=)
c.999T>G (p.Ser333=)
c.861T>G (p.Ser287=)
c.3423T>G (p.Ser1141=)
c.4188T>G (p.Ser1396=)
c.4170T>G (p.Ser1390=)
c.876T>G (p.Ser292=)
c.921T>G (p.Ser307=)
c.632T>G
c.885T>G (p.Ser295=)
c.*4094T>G (n.*4094T>G)
c.605T>G
c.1002T>G (p.Ser334=)
c.624T>G (p.Ser208=)
c.627T>G (p.Ser209=)
c.5-18499T>G (n.5-18499T>G)
c.-43-7929T>G (n.-43-7929T>G)
c.-98-32260T>G (n.-98-32260T>G)
n.205T>G
n.4447T>G
n.4488T>G
 ClinVar
17g.43082450A>GCA500148372BRCA1c.4311T>C (p.Ser1437=)
c.4185T>C (p.Ser1395=)
c.4305T>C (p.Ser1435=)
c.4233T>C (p.Ser1411=)
c.999T>C (p.Ser333=)
c.861T>C (p.Ser287=)
c.3423T>C (p.Ser1141=)
c.4188T>C (p.Ser1396=)
c.4170T>C (p.Ser1390=)
c.876T>C (p.Ser292=)
c.921T>C (p.Ser307=)
c.632T>C
c.885T>C (p.Ser295=)
c.*4094T>C (n.*4094T>C)
c.605T>C
c.1002T>C (p.Ser334=)
c.624T>C (p.Ser208=)
c.627T>C (p.Ser209=)
c.5-18499T>C (n.5-18499T>C)
c.-43-7929T>C (n.-43-7929T>C)
c.-98-32260T>C (n.-98-32260T>C)
n.205T>C
n.4447T>C
n.4488T>C
 ClinVar dbSNP
17g.43082450A>TCA500148371BRCA1c.4311T>A (p.Ser1437=)
c.4185T>A (p.Ser1395=)
c.4305T>A (p.Ser1435=)
c.4233T>A (p.Ser1411=)
c.999T>A (p.Ser333=)
c.861T>A (p.Ser287=)
c.3423T>A (p.Ser1141=)
c.4188T>A (p.Ser1396=)
c.4170T>A (p.Ser1390=)
c.876T>A (p.Ser292=)
c.921T>A (p.Ser307=)
c.632T>A
c.885T>A (p.Ser295=)
c.*4094T>A (n.*4094T>A)
c.605T>A
c.1002T>A (p.Ser334=)
c.624T>A (p.Ser208=)
c.627T>A (p.Ser209=)
c.5-18499T>A (n.5-18499T>A)
c.-43-7929T>A (n.-43-7929T>A)
c.-98-32260T>A (n.-98-32260T>A)
n.205T>A
n.4447T>A
n.4488T>A
 dbSNP
17g.43082450_43082451delinsAGCA2260777984BRCA1c.4310_4311delinsCT (p.Ser1437=)
c.4184_4185delinsCT (p.Ser1395=)
c.4304_4305delinsCT (p.Ser1435=)
c.4232_4233delinsCT (p.Ser1411=)
c.998_999delinsCT (p.Ser333=)
c.860_861delinsCT (p.Ser287=)
c.3422_3423delinsCT (p.Ser1141=)
c.4187_4188delinsCT (p.Ser1396=)
c.4169_4170delinsCT (p.Ser1390=)
c.875_876delinsCT (p.Ser292=)
c.920_921delinsCT (p.Ser307=)
c.631_632delinsCT
c.884_885delinsCT (p.Ser295=)
c.*4093_*4094delinsCT (n.*4093_*4094delinsCT)
c.604_605delinsCT
c.1001_1002delinsCT (p.Ser334=)
c.623_624delinsCT (p.Ser208=)
c.626_627delinsCT (p.Ser209=)
c.5-18500_5-18499delinsCT (n.5-18500_5-18499delinsCT)
c.-43-7930_-43-7929delinsCT (n.-43-7930_-43-7929delinsCT)
c.-98-32261_-98-32260delinsCT (n.-98-32261_-98-32260delinsCT)
n.204_205delinsCT
n.4446_4447delinsCT
n.4487_4488delinsCT
17g.43082451delCA645373146BRCA1c.4310del (p.Ser1437LeufsTer18)
c.4310del (p.Ser1437LeufsTer19)
c.4184del (p.Ser1395LeufsTer19)
c.4304del (p.Ser1435LeufsTer19)
c.4232del (p.Ser1411LeufsTer19)
c.998del (p.Ser333LeufsTer19)
c.860del (p.Ser287LeufsTer19)
c.3422del (p.Ser1141LeufsTer19)
c.4187del (p.Ser1396LeufsTer19)
c.4310del (p.Ser1437LeufsTer?)
c.4169del (p.Ser1390LeufsTer19)
c.875del (p.Ser292LeufsTer18)
c.920del (p.Ser307LeufsTer18)
c.631del
c.884del (p.Ser295LeufsTer19)
c.*4093del (n.*4093del)
c.604del
c.1001del (p.Ser334LeufsTer18)
c.623del (p.Ser208LeufsTer19)
c.626del (p.Ser209LeufsTer19)
c.5-18500del (n.5-18500del)
c.-43-7930del (n.-43-7930del)
c.-98-32261del (n.-98-32261del)
n.204del
n.4446del
n.4487del
 ClinVar dbSNP
17g.43082451G>ACA10593099BRCA1c.4310C>T (p.Ser1437Phe)
c.4184C>T (p.Ser1395Phe)
c.4304C>T (p.Ser1435Phe)
c.4232C>T (p.Ser1411Phe)
c.998C>T (p.Ser333Phe)
c.860C>T (p.Ser287Phe)
c.3422C>T (p.Ser1141Phe)
c.4187C>T (p.Ser1396Phe)
c.4169C>T (p.Ser1390Phe)
c.875C>T (p.Ser292Phe)
c.920C>T (p.Ser307Phe)
c.631C>T
c.884C>T (p.Ser295Phe)
c.*4093C>T (n.*4093C>T)
c.604C>T
c.1001C>T (p.Ser334Phe)
c.623C>T (p.Ser208Phe)
c.626C>T (p.Ser209Phe)
c.5-18500C>T (n.5-18500C>T)
c.-43-7930C>T (n.-43-7930C>T)
c.-98-32261C>T (n.-98-32261C>T)
n.204C>T
n.4446C>T
n.4487C>T
 ClinVar dbSNP
17g.43082451G>CCA10593100BRCA1c.4310C>G (p.Ser1437Cys)
c.4184C>G (p.Ser1395Cys)
c.4304C>G (p.Ser1435Cys)
c.4232C>G (p.Ser1411Cys)
c.998C>G (p.Ser333Cys)
c.860C>G (p.Ser287Cys)
c.3422C>G (p.Ser1141Cys)
c.4187C>G (p.Ser1396Cys)
c.4169C>G (p.Ser1390Cys)
c.875C>G (p.Ser292Cys)
c.920C>G (p.Ser307Cys)
c.631C>G
c.884C>G (p.Ser295Cys)
c.*4093C>G (n.*4093C>G)
c.604C>G
c.1001C>G (p.Ser334Cys)
c.623C>G (p.Ser208Cys)
c.626C>G (p.Ser209Cys)
c.5-18500C>G (n.5-18500C>G)
c.-43-7930C>G (n.-43-7930C>G)
c.-98-32261C>G (n.-98-32261C>G)
n.204C>G
n.4446C>G
n.4487C>G
 dbSNP
17g.43082451G=CA2260777987BRCA1c.4310C= (p.Ser1437=)
c.4184C= (p.Ser1395=)
c.4304C= (p.Ser1435=)
c.4232C= (p.Ser1411=)
c.998C= (p.Ser333=)
c.860C= (p.Ser287=)
c.3422C= (p.Ser1141=)
c.4187C= (p.Ser1396=)
c.4169C= (p.Ser1390=)
c.875C= (p.Ser292=)
c.920C= (p.Ser307=)
c.631C=
c.884C= (p.Ser295=)
c.*4093C= (n.*4093C=)
c.604C=
c.1001C= (p.Ser334=)
c.623C= (p.Ser208=)
c.626C= (p.Ser209=)
c.5-18500C= (n.5-18500C=)
c.-43-7930C= (n.-43-7930C=)
c.-98-32261C= (n.-98-32261C=)
n.204C=
n.4446C=
n.4487C=
17g.43082451G>TCA10593101BRCA1c.4310C>A (p.Ser1437Tyr)
c.4184C>A (p.Ser1395Tyr)
c.4304C>A (p.Ser1435Tyr)
c.4232C>A (p.Ser1411Tyr)
c.998C>A (p.Ser333Tyr)
c.860C>A (p.Ser287Tyr)
c.3422C>A (p.Ser1141Tyr)
c.4187C>A (p.Ser1396Tyr)
c.4169C>A (p.Ser1390Tyr)
c.875C>A (p.Ser292Tyr)
c.920C>A (p.Ser307Tyr)
c.631C>A
c.884C>A (p.Ser295Tyr)
c.*4093C>A (n.*4093C>A)
c.604C>A
c.1001C>A (p.Ser334Tyr)
c.623C>A (p.Ser208Tyr)
c.626C>A (p.Ser209Tyr)
c.5-18500C>A (n.5-18500C>A)
c.-43-7930C>A (n.-43-7930C>A)
c.-98-32261C>A (n.-98-32261C>A)
n.204C>A
n.4446C>A
n.4487C>A
17g.43082451_43082452delinsGACA2260777986BRCA1c.4309_4310delinsTC (p.Ser1437=)
c.4183_4184delinsTC (p.Ser1395=)
c.4303_4304delinsTC (p.Ser1435=)
c.4231_4232delinsTC (p.Ser1411=)
c.997_998delinsTC (p.Ser333=)
c.859_860delinsTC (p.Ser287=)
c.3421_3422delinsTC (p.Ser1141=)
c.4186_4187delinsTC (p.Ser1396=)
c.4168_4169delinsTC (p.Ser1390=)
c.874_875delinsTC (p.Ser292=)
c.919_920delinsTC (p.Ser307=)
c.630_631delinsTC
c.883_884delinsTC (p.Ser295=)
c.*4092_*4093delinsTC (n.*4092_*4093delinsTC)
c.603_604delinsTC
c.1000_1001delinsTC (p.Ser334=)
c.622_623delinsTC (p.Ser208=)
c.625_626delinsTC (p.Ser209=)
c.5-18501_5-18500delinsTC (n.5-18501_5-18500delinsTC)
c.-43-7931_-43-7930delinsTC (n.-43-7931_-43-7930delinsTC)
c.-98-32262_-98-32261delinsTC (n.-98-32262_-98-32261delinsTC)
n.203_204delinsTC
n.4445_4446delinsTC
n.4486_4487delinsTC
17g.43082452A>CCA10593102BRCA1c.4309T>G (p.Ser1437Ala)
c.4183T>G (p.Ser1395Ala)
c.4303T>G (p.Ser1435Ala)
c.4231T>G (p.Ser1411Ala)
c.997T>G (p.Ser333Ala)
c.859T>G (p.Ser287Ala)
c.3421T>G (p.Ser1141Ala)
c.4186T>G (p.Ser1396Ala)
c.4168T>G (p.Ser1390Ala)
c.874T>G (p.Ser292Ala)
c.919T>G (p.Ser307Ala)
c.630T>G
c.883T>G (p.Ser295Ala)
c.*4092T>G (n.*4092T>G)
c.603T>G
c.1000T>G (p.Ser334Ala)
c.622T>G (p.Ser208Ala)
c.625T>G (p.Ser209Ala)
c.5-18501T>G (n.5-18501T>G)
c.-43-7931T>G (n.-43-7931T>G)
c.-98-32262T>G (n.-98-32262T>G)
n.203T>G
n.4445T>G
n.4486T>G
17g.43082452A>GCA10593103BRCA1c.4309T>C (p.Ser1437Pro)
c.4183T>C (p.Ser1395Pro)
c.4303T>C (p.Ser1435Pro)
c.4231T>C (p.Ser1411Pro)
c.997T>C (p.Ser333Pro)
c.859T>C (p.Ser287Pro)
c.3421T>C (p.Ser1141Pro)
c.4186T>C (p.Ser1396Pro)
c.4168T>C (p.Ser1390Pro)
c.874T>C (p.Ser292Pro)
c.919T>C (p.Ser307Pro)
c.630T>C
c.883T>C (p.Ser295Pro)
c.*4092T>C (n.*4092T>C)
c.603T>C
c.1000T>C (p.Ser334Pro)
c.622T>C (p.Ser208Pro)
c.625T>C (p.Ser209Pro)
c.5-18501T>C (n.5-18501T>C)
c.-43-7931T>C (n.-43-7931T>C)
c.-98-32262T>C (n.-98-32262T>C)
n.203T>C
n.4445T>C
n.4486T>C
17g.43082452A>TCA10593104BRCA1c.4309T>A (p.Ser1437Thr)
c.4183T>A (p.Ser1395Thr)
c.4303T>A (p.Ser1435Thr)
c.4231T>A (p.Ser1411Thr)
c.997T>A (p.Ser333Thr)
c.859T>A (p.Ser287Thr)
c.3421T>A (p.Ser1141Thr)
c.4186T>A (p.Ser1396Thr)
c.4168T>A (p.Ser1390Thr)
c.874T>A (p.Ser292Thr)
c.919T>A (p.Ser307Thr)
c.630T>A
c.883T>A (p.Ser295Thr)
c.*4092T>A (n.*4092T>A)
c.603T>A
c.1000T>A (p.Ser334Thr)
c.622T>A (p.Ser208Thr)
c.625T>A (p.Ser209Thr)
c.5-18501T>A (n.5-18501T>A)
c.-43-7931T>A (n.-43-7931T>A)
c.-98-32262T>A (n.-98-32262T>A)
n.203T>A
n.4445T>A
n.4486T>A
 dbSNP
17g.43082452_43082453delCA2573154021BRCA1c.4308_4309del (p.Ser1437CysfsTer3)
c.4182_4183del (p.Ser1395CysfsTer3)
c.4302_4303del (p.Ser1435CysfsTer3)
c.4230_4231del (p.Ser1411CysfsTer3)
c.996_997del (p.Ser333CysfsTer3)
c.858_859del (p.Ser287CysfsTer3)
c.3420_3421del (p.Ser1141CysfsTer3)
c.4185_4186del (p.Ser1396CysfsTer3)
c.4167_4168del (p.Ser1390CysfsTer3)
c.873_874del (p.Ser292CysfsTer3)
c.918_919del (p.Ser307CysfsTer3)
c.629_630del
c.882_883del (p.Ser295CysfsTer3)
c.*4091_*4092del (n.*4091_*4092del)
c.602_603del
c.999_1000del (p.Ser334CysfsTer3)
c.621_622del (p.Ser208CysfsTer3)
c.624_625del (p.Ser209CysfsTer3)
c.5-18502_5-18501del (n.5-18502_5-18501del)
c.-43-7932_-43-7931del (n.-43-7932_-43-7931del)
c.-98-32263_-98-32262del (n.-98-32263_-98-32262del)
n.202_203del
n.4444_4445del
n.4485_4486del
 ClinVar dbSNP
17g.43082453dupCA2580093802BRCA1c.4309dup (p.Ser1437PhefsTer4)
c.4183dup (p.Ser1395PhefsTer4)
c.4303dup (p.Ser1435PhefsTer4)
c.4231dup (p.Ser1411PhefsTer4)
c.997dup (p.Ser333PhefsTer4)
c.859dup (p.Ser287PhefsTer4)
c.3421dup (p.Ser1141PhefsTer4)
c.4186dup (p.Ser1396PhefsTer4)
c.4168dup (p.Ser1390PhefsTer4)
c.874dup (p.Ser292PhefsTer4)
c.919dup (p.Ser307PhefsTer4)
c.630dup
c.883dup (p.Ser295PhefsTer4)
c.*4092dup (n.*4092dup)
c.603dup
c.1000dup (p.Ser334PhefsTer4)
c.622dup (p.Ser208PhefsTer4)
c.625dup (p.Ser209PhefsTer4)
c.5-18501dup (n.5-18501dup)
c.-43-7931dup (n.-43-7931dup)
c.-98-32262dup (n.-98-32262dup)
n.203dup
n.4445dup
n.4486dup
 ClinVar
17g.43082453delCA10589670BRCA1c.4309del (p.Ser1437LeufsTer18)
c.4309del (p.Ser1437LeufsTer19)
c.4183del (p.Ser1395LeufsTer19)
c.4303del (p.Ser1435LeufsTer19)
c.4231del (p.Ser1411LeufsTer19)
c.997del (p.Ser333LeufsTer19)
c.859del (p.Ser287LeufsTer19)
c.3421del (p.Ser1141LeufsTer19)
c.4186del (p.Ser1396LeufsTer19)
c.4309del (p.Ser1437LeufsTer?)
c.4168del (p.Ser1390LeufsTer19)
c.874del (p.Ser292LeufsTer18)
c.919del (p.Ser307LeufsTer18)
c.630del
c.883del (p.Ser295LeufsTer19)
c.*4092del (n.*4092del)
c.603del
c.1000del (p.Ser334LeufsTer18)
c.622del (p.Ser208LeufsTer19)
c.625del (p.Ser209LeufsTer19)
c.5-18501del (n.5-18501del)
c.-43-7931del (n.-43-7931del)
c.-98-32262del (n.-98-32262del)
n.203del
n.4445del
n.4486del
 ClinVar dbSNP
17g.43082452_43082454delinsAAGCA2260777988BRCA1c.4307_4309delinsCTT (p.Ser1436=)
c.4181_4183delinsCTT (p.Ser1394=)
c.4301_4303delinsCTT (p.Ser1434=)
c.4229_4231delinsCTT (p.Ser1410=)
c.995_997delinsCTT (p.Ser332=)
c.857_859delinsCTT (p.Ser286=)
c.3419_3421delinsCTT (p.Ser1140=)
c.4184_4186delinsCTT (p.Ser1395=)
c.4166_4168delinsCTT (p.Ser1389=)
c.872_874delinsCTT (p.Ser291=)
c.917_919delinsCTT (p.Ser306=)
c.628_630delinsCTT
c.881_883delinsCTT (p.Ser294=)
c.*4090_*4092delinsCTT (n.*4090_*4092delinsCTT)
c.601_603delinsCTT
c.998_1000delinsCTT (p.Ser333=)
c.620_622delinsCTT (p.Ser207=)
c.623_625delinsCTT (p.Ser208=)
c.5-18503_5-18501delinsCTT (n.5-18503_5-18501delinsCTT)
c.-43-7933_-43-7931delinsCTT (n.-43-7933_-43-7931delinsCTT)
c.-98-32264_-98-32262delinsCTT (n.-98-32264_-98-32262delinsCTT)
n.201_203delinsCTT
n.4443_4445delinsCTT
n.4484_4486delinsCTT
17g.43082453A=CA2260777989BRCA1c.4308T= (p.Ser1436=)
c.4182T= (p.Ser1394=)
c.4302T= (p.Ser1434=)
c.4230T= (p.Ser1410=)
c.996T= (p.Ser332=)
c.858T= (p.Ser286=)
c.3420T= (p.Ser1140=)
c.4185T= (p.Ser1395=)
c.4167T= (p.Ser1389=)
c.873T= (p.Ser291=)
c.918T= (p.Ser306=)
c.629T=
c.882T= (p.Ser294=)
c.*4091T= (n.*4091T=)
c.602T=
c.999T= (p.Ser333=)
c.621T= (p.Ser207=)
c.624T= (p.Ser208=)
c.5-18502T= (n.5-18502T=)
c.-43-7932T= (n.-43-7932T=)
c.-98-32263T= (n.-98-32263T=)
n.202T=
n.4444T=
n.4485T=
17g.43082453A>CCA500148373BRCA1c.4308T>G (p.Ser1436=)
c.4182T>G (p.Ser1394=)
c.4302T>G (p.Ser1434=)
c.4230T>G (p.Ser1410=)
c.996T>G (p.Ser332=)
c.858T>G (p.Ser286=)
c.3420T>G (p.Ser1140=)
c.4185T>G (p.Ser1395=)
c.4167T>G (p.Ser1389=)
c.873T>G (p.Ser291=)
c.918T>G (p.Ser306=)
c.629T>G
c.882T>G (p.Ser294=)
c.*4091T>G (n.*4091T>G)
c.602T>G
c.999T>G (p.Ser333=)
c.621T>G (p.Ser207=)
c.624T>G (p.Ser208=)
c.5-18502T>G (n.5-18502T>G)
c.-43-7932T>G (n.-43-7932T>G)
c.-98-32263T>G (n.-98-32263T>G)
n.202T>G
n.4444T>G
n.4485T>G
 ClinVar dbSNP
17g.43082453A>GCA002763BRCA1c.4308T>C (p.Ser1436=)
c.4182T>C (p.Ser1394=)
c.4302T>C (p.Ser1434=)
c.4230T>C (p.Ser1410=)
c.996T>C (p.Ser332=)
c.858T>C (p.Ser286=)
c.3420T>C (p.Ser1140=)
c.4185T>C (p.Ser1395=)
c.4167T>C (p.Ser1389=)
c.873T>C (p.Ser291=)
c.918T>C (p.Ser306=)
c.629T>C
c.882T>C (p.Ser294=)
c.*4091T>C (n.*4091T>C)
c.602T>C
c.999T>C (p.Ser333=)
c.621T>C (p.Ser207=)
c.624T>C (p.Ser208=)
c.5-18502T>C (n.5-18502T>C)
c.-43-7932T>C (n.-43-7932T>C)
c.-98-32263T>C (n.-98-32263T>C)
n.202T>C
n.4444T>C
n.4485T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082453A>TCA500148374BRCA1c.4308T>A (p.Ser1436=)
c.4182T>A (p.Ser1394=)
c.4302T>A (p.Ser1434=)
c.4230T>A (p.Ser1410=)
c.996T>A (p.Ser332=)
c.858T>A (p.Ser286=)
c.3420T>A (p.Ser1140=)
c.4185T>A (p.Ser1395=)
c.4167T>A (p.Ser1389=)
c.873T>A (p.Ser291=)
c.918T>A (p.Ser306=)
c.629T>A
c.882T>A (p.Ser294=)
c.*4091T>A (n.*4091T>A)
c.602T>A
c.999T>A (p.Ser333=)
c.621T>A (p.Ser207=)
c.624T>A (p.Ser208=)
c.5-18502T>A (n.5-18502T>A)
c.-43-7932T>A (n.-43-7932T>A)
c.-98-32263T>A (n.-98-32263T>A)
n.202T>A
n.4444T>A
n.4485T>A
 ClinVar dbSNP
17g.43082455_43082456delCA002762BRCA1c.4307_4308del (p.Ser1436PhefsTer4)
c.4181_4182del (p.Ser1394PhefsTer4)
c.4301_4302del (p.Ser1434PhefsTer4)
c.4229_4230del (p.Ser1410PhefsTer4)
c.995_996del (p.Ser332PhefsTer4)
c.857_858del (p.Ser286PhefsTer4)
c.3419_3420del (p.Ser1140PhefsTer4)
c.4184_4185del (p.Ser1395PhefsTer4)
c.4166_4167del (p.Ser1389PhefsTer4)
c.872_873del (p.Ser291PhefsTer4)
c.917_918del (p.Ser306PhefsTer4)
c.628_629del
c.881_882del (p.Ser294PhefsTer4)
c.*4090_*4091del (n.*4090_*4091del)
c.601_602del
c.998_999del (p.Ser333PhefsTer4)
c.620_621del (p.Ser207PhefsTer4)
c.623_624del (p.Ser208PhefsTer4)
c.5-18503_5-18502del (n.5-18503_5-18502del)
c.-43-7933_-43-7932del (n.-43-7933_-43-7932del)
c.-98-32264_-98-32263del (n.-98-32264_-98-32263del)
n.201_202del
n.4443_4444del
n.4484_4485del
 ClinVar dbSNP
17g.43082454G>ACA059893BRCA1c.4307C>T (p.Ser1436Phe)
c.4181C>T (p.Ser1394Phe)
c.4301C>T (p.Ser1434Phe)
c.4229C>T (p.Ser1410Phe)
c.995C>T (p.Ser332Phe)
c.857C>T (p.Ser286Phe)
c.3419C>T (p.Ser1140Phe)
c.4184C>T (p.Ser1395Phe)
c.4166C>T (p.Ser1389Phe)
c.872C>T (p.Ser291Phe)
c.917C>T (p.Ser306Phe)
c.628C>T
c.881C>T (p.Ser294Phe)
c.*4090C>T (n.*4090C>T)
c.601C>T
c.998C>T (p.Ser333Phe)
c.620C>T (p.Ser207Phe)
c.623C>T (p.Ser208Phe)
c.5-18503C>T (n.5-18503C>T)
c.-43-7933C>T (n.-43-7933C>T)
c.-98-32264C>T (n.-98-32264C>T)
n.201C>T
n.4443C>T
n.4484C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082454G>CCA10593105BRCA1c.4307C>G (p.Ser1436Cys)
c.4181C>G (p.Ser1394Cys)
c.4301C>G (p.Ser1434Cys)
c.4229C>G (p.Ser1410Cys)
c.995C>G (p.Ser332Cys)
c.857C>G (p.Ser286Cys)
c.3419C>G (p.Ser1140Cys)
c.4184C>G (p.Ser1395Cys)
c.4166C>G (p.Ser1389Cys)
c.872C>G (p.Ser291Cys)
c.917C>G (p.Ser306Cys)
c.628C>G
c.881C>G (p.Ser294Cys)
c.*4090C>G (n.*4090C>G)
c.601C>G
c.998C>G (p.Ser333Cys)
c.620C>G (p.Ser207Cys)
c.623C>G (p.Ser208Cys)
c.5-18503C>G (n.5-18503C>G)
c.-43-7933C>G (n.-43-7933C>G)
c.-98-32264C>G (n.-98-32264C>G)
n.201C>G
n.4443C>G
n.4484C>G
 dbSNP
17g.43082454G=CA2260777990BRCA1c.4307C= (p.Ser1436=)
c.4181C= (p.Ser1394=)
c.4301C= (p.Ser1434=)
c.4229C= (p.Ser1410=)
c.995C= (p.Ser332=)
c.857C= (p.Ser286=)
c.3419C= (p.Ser1140=)
c.4184C= (p.Ser1395=)
c.4166C= (p.Ser1389=)
c.872C= (p.Ser291=)
c.917C= (p.Ser306=)
c.628C=
c.881C= (p.Ser294=)
c.*4090C= (n.*4090C=)
c.601C=
c.998C= (p.Ser333=)
c.620C= (p.Ser207=)
c.623C= (p.Ser208=)
c.5-18503C= (n.5-18503C=)
c.-43-7933C= (n.-43-7933C=)
c.-98-32264C= (n.-98-32264C=)
n.201C=
n.4443C=
n.4484C=
17g.43082454G>TCA10593106BRCA1c.4307C>A (p.Ser1436Tyr)
c.4181C>A (p.Ser1394Tyr)
c.4301C>A (p.Ser1434Tyr)
c.4229C>A (p.Ser1410Tyr)
c.995C>A (p.Ser332Tyr)
c.857C>A (p.Ser286Tyr)
c.3419C>A (p.Ser1140Tyr)
c.4184C>A (p.Ser1395Tyr)
c.4166C>A (p.Ser1389Tyr)
c.872C>A (p.Ser291Tyr)
c.917C>A (p.Ser306Tyr)
c.628C>A
c.881C>A (p.Ser294Tyr)
c.*4090C>A (n.*4090C>A)
c.601C>A
c.998C>A (p.Ser333Tyr)
c.620C>A (p.Ser207Tyr)
c.623C>A (p.Ser208Tyr)
c.5-18503C>A (n.5-18503C>A)
c.-43-7933C>A (n.-43-7933C>A)
c.-98-32264C>A (n.-98-32264C>A)
n.201C>A
n.4443C>A
n.4484C>A
 dbSNP
17g.43082455A>CCA10593107BRCA1c.4306T>G (p.Ser1436Ala)
c.4180T>G (p.Ser1394Ala)
c.4300T>G (p.Ser1434Ala)
c.4228T>G (p.Ser1410Ala)
c.994T>G (p.Ser332Ala)
c.856T>G (p.Ser286Ala)
c.3418T>G (p.Ser1140Ala)
c.4183T>G (p.Ser1395Ala)
c.4165T>G (p.Ser1389Ala)
c.871T>G (p.Ser291Ala)
c.916T>G (p.Ser306Ala)
c.627T>G
c.880T>G (p.Ser294Ala)
c.*4089T>G (n.*4089T>G)
c.600T>G
c.997T>G (p.Ser333Ala)
c.619T>G (p.Ser207Ala)
c.622T>G (p.Ser208Ala)
c.5-18504T>G (n.5-18504T>G)
c.-43-7934T>G (n.-43-7934T>G)
c.-98-32265T>G (n.-98-32265T>G)
n.200T>G
n.4442T>G
n.4483T>G
17g.43082455A>GCA10593108BRCA1c.4306T>C (p.Ser1436Pro)
c.4180T>C (p.Ser1394Pro)
c.4300T>C (p.Ser1434Pro)
c.4228T>C (p.Ser1410Pro)
c.994T>C (p.Ser332Pro)
c.856T>C (p.Ser286Pro)
c.3418T>C (p.Ser1140Pro)
c.4183T>C (p.Ser1395Pro)
c.4165T>C (p.Ser1389Pro)
c.871T>C (p.Ser291Pro)
c.916T>C (p.Ser306Pro)
c.627T>C
c.880T>C (p.Ser294Pro)
c.*4089T>C (n.*4089T>C)
c.600T>C
c.997T>C (p.Ser333Pro)
c.619T>C (p.Ser207Pro)
c.622T>C (p.Ser208Pro)
c.5-18504T>C (n.5-18504T>C)
c.-43-7934T>C (n.-43-7934T>C)
c.-98-32265T>C (n.-98-32265T>C)
n.200T>C
n.4442T>C
n.4483T>C
 gnomAD v3 gnomAD v4
17g.43082455A>TCA10593109BRCA1c.4306T>A (p.Ser1436Thr)
c.4180T>A (p.Ser1394Thr)
c.4300T>A (p.Ser1434Thr)
c.4228T>A (p.Ser1410Thr)
c.994T>A (p.Ser332Thr)
c.856T>A (p.Ser286Thr)
c.3418T>A (p.Ser1140Thr)
c.4183T>A (p.Ser1395Thr)
c.4165T>A (p.Ser1389Thr)
c.871T>A (p.Ser291Thr)
c.916T>A (p.Ser306Thr)
c.627T>A
c.880T>A (p.Ser294Thr)
c.*4089T>A (n.*4089T>A)
c.600T>A
c.997T>A (p.Ser333Thr)
c.619T>A (p.Ser207Thr)
c.622T>A (p.Ser208Thr)
c.5-18504T>A (n.5-18504T>A)
c.-43-7934T>A (n.-43-7934T>A)
c.-98-32265T>A (n.-98-32265T>A)
n.200T>A
n.4442T>A
n.4483T>A
 dbSNP
17g.43082456G>ACA002760BRCA1c.4305C>T (p.Asp1435=)
c.4179C>T (p.Asp1393=)
c.4299C>T (p.Asp1433=)
c.4227C>T (p.Asp1409=)
c.993C>T (p.Asp331=)
c.855C>T (p.Asp285=)
c.3417C>T (p.Asp1139=)
c.4182C>T (p.Asp1394=)
c.4164C>T (p.Asp1388=)
c.870C>T (p.Asp290=)
c.915C>T (p.Asp305=)
c.626C>T
c.879C>T (p.Asp293=)
c.*4088C>T (n.*4088C>T)
c.599C>T
c.996C>T (p.Asp332=)
c.618C>T (p.Asp206=)
c.621C>T (p.Asp207=)
c.5-18505C>T (n.5-18505C>T)
c.-43-7935C>T (n.-43-7935C>T)
c.-98-32266C>T (n.-98-32266C>T)
n.199C>T
n.4441C>T
n.4482C>T
 ClinVar dbSNP
17g.43082456G>CCA002759BRCA1c.4305C>G (p.Asp1435Glu)
c.4179C>G (p.Asp1393Glu)
c.4299C>G (p.Asp1433Glu)
c.4227C>G (p.Asp1409Glu)
c.993C>G (p.Asp331Glu)
c.855C>G (p.Asp285Glu)
c.3417C>G (p.Asp1139Glu)
c.4182C>G (p.Asp1394Glu)
c.4164C>G (p.Asp1388Glu)
c.870C>G (p.Asp290Glu)
c.915C>G (p.Asp305Glu)
c.626C>G
c.879C>G (p.Asp293Glu)
c.*4088C>G (n.*4088C>G)
c.599C>G
c.996C>G (p.Asp332Glu)
c.618C>G (p.Asp206Glu)
c.621C>G (p.Asp207Glu)
c.5-18505C>G (n.5-18505C>G)
c.-43-7935C>G (n.-43-7935C>G)
c.-98-32266C>G (n.-98-32266C>G)
n.199C>G
n.4441C>G
n.4482C>G
 ClinVar dbSNP
17g.43082456G=CA2260777991BRCA1c.4305C= (p.Asp1435=)
c.4179C= (p.Asp1393=)
c.4299C= (p.Asp1433=)
c.4227C= (p.Asp1409=)
c.993C= (p.Asp331=)
c.855C= (p.Asp285=)
c.3417C= (p.Asp1139=)
c.4182C= (p.Asp1394=)
c.4164C= (p.Asp1388=)
c.870C= (p.Asp290=)
c.915C= (p.Asp305=)
c.626C=
c.879C= (p.Asp293=)
c.*4088C= (n.*4088C=)
c.599C=
c.996C= (p.Asp332=)
c.618C= (p.Asp206=)
c.621C= (p.Asp207=)
c.5-18505C= (n.5-18505C=)
c.-43-7935C= (n.-43-7935C=)
c.-98-32266C= (n.-98-32266C=)
n.199C=
n.4441C=
n.4482C=
17g.43082456G>TCA10593110BRCA1c.4305C>A (p.Asp1435Glu)
c.4179C>A (p.Asp1393Glu)
c.4299C>A (p.Asp1433Glu)
c.4227C>A (p.Asp1409Glu)
c.993C>A (p.Asp331Glu)
c.855C>A (p.Asp285Glu)
c.3417C>A (p.Asp1139Glu)
c.4182C>A (p.Asp1394Glu)
c.4164C>A (p.Asp1388Glu)
c.870C>A (p.Asp290Glu)
c.915C>A (p.Asp305Glu)
c.626C>A
c.879C>A (p.Asp293Glu)
c.*4088C>A (n.*4088C>A)
c.599C>A
c.996C>A (p.Asp332Glu)
c.618C>A (p.Asp206Glu)
c.621C>A (p.Asp207Glu)
c.5-18505C>A (n.5-18505C>A)
c.-43-7935C>A (n.-43-7935C>A)
c.-98-32266C>A (n.-98-32266C>A)
n.199C>A
n.4441C>A
n.4482C>A
17g.43082457T>ACA10593111BRCA1c.4304A>T (p.Asp1435Val)
c.4178A>T (p.Asp1393Val)
c.4298A>T (p.Asp1433Val)
c.4226A>T (p.Asp1409Val)
c.992A>T (p.Asp331Val)
c.854A>T (p.Asp285Val)
c.3416A>T (p.Asp1139Val)
c.4181A>T (p.Asp1394Val)
c.4163A>T (p.Asp1388Val)
c.869A>T (p.Asp290Val)
c.914A>T (p.Asp305Val)
c.625A>T
c.878A>T (p.Asp293Val)
c.*4087A>T (n.*4087A>T)
c.598A>T
c.995A>T (p.Asp332Val)
c.617A>T (p.Asp206Val)
c.620A>T (p.Asp207Val)
c.5-18506A>T (n.5-18506A>T)
c.-43-7936A>T (n.-43-7936A>T)
c.-98-32267A>T (n.-98-32267A>T)
n.198A>T
n.4440A>T
n.4481A>T
 ClinVar dbSNP
17g.43082457T>CCA10580525BRCA1c.4304A>G (p.Asp1435Gly)
c.4178A>G (p.Asp1393Gly)
c.4298A>G (p.Asp1433Gly)
c.4226A>G (p.Asp1409Gly)
c.992A>G (p.Asp331Gly)
c.854A>G (p.Asp285Gly)
c.3416A>G (p.Asp1139Gly)
c.4181A>G (p.Asp1394Gly)
c.4163A>G (p.Asp1388Gly)
c.869A>G (p.Asp290Gly)
c.914A>G (p.Asp305Gly)
c.625A>G
c.878A>G (p.Asp293Gly)
c.*4087A>G (n.*4087A>G)
c.598A>G
c.995A>G (p.Asp332Gly)
c.617A>G (p.Asp206Gly)
c.620A>G (p.Asp207Gly)
c.5-18506A>G (n.5-18506A>G)
c.-43-7936A>G (n.-43-7936A>G)
c.-98-32267A>G (n.-98-32267A>G)
n.198A>G
n.4440A>G
n.4481A>G
 ClinVar dbSNP gnomAD v4
17g.43082457T>GCA10593112BRCA1c.4304A>C (p.Asp1435Ala)
c.4178A>C (p.Asp1393Ala)
c.4298A>C (p.Asp1433Ala)
c.4226A>C (p.Asp1409Ala)
c.992A>C (p.Asp331Ala)
c.854A>C (p.Asp285Ala)
c.3416A>C (p.Asp1139Ala)
c.4181A>C (p.Asp1394Ala)
c.4163A>C (p.Asp1388Ala)
c.869A>C (p.Asp290Ala)
c.914A>C (p.Asp305Ala)
c.625A>C
c.878A>C (p.Asp293Ala)
c.*4087A>C (n.*4087A>C)
c.598A>C
c.995A>C (p.Asp332Ala)
c.617A>C (p.Asp206Ala)
c.620A>C (p.Asp207Ala)
c.5-18506A>C (n.5-18506A>C)
c.-43-7936A>C (n.-43-7936A>C)
c.-98-32267A>C (n.-98-32267A>C)
n.198A>C
n.4440A>C
n.4481A>C
 dbSNP
17g.43082457T=CA2260777992BRCA1c.4304A= (p.Asp1435=)
c.4178A= (p.Asp1393=)
c.4298A= (p.Asp1433=)
c.4226A= (p.Asp1409=)
c.992A= (p.Asp331=)
c.854A= (p.Asp285=)
c.3416A= (p.Asp1139=)
c.4181A= (p.Asp1394=)
c.4163A= (p.Asp1388=)
c.869A= (p.Asp290=)
c.914A= (p.Asp305=)
c.625A=
c.878A= (p.Asp293=)
c.*4087A= (n.*4087A=)
c.598A=
c.995A= (p.Asp332=)
c.617A= (p.Asp206=)
c.620A= (p.Asp207=)
c.5-18506A= (n.5-18506A=)
c.-43-7936A= (n.-43-7936A=)
c.-98-32267A= (n.-98-32267A=)
n.198A=
n.4440A=
n.4481A=
17g.43082458C>ACA10593113BRCA1c.4303G>T (p.Asp1435Tyr)
c.4177G>T (p.Asp1393Tyr)
c.4297G>T (p.Asp1433Tyr)
c.4225G>T (p.Asp1409Tyr)
c.991G>T (p.Asp331Tyr)
c.853G>T (p.Asp285Tyr)
c.3415G>T (p.Asp1139Tyr)
c.4180G>T (p.Asp1394Tyr)
c.4162G>T (p.Asp1388Tyr)
c.868G>T (p.Asp290Tyr)
c.913G>T (p.Asp305Tyr)
c.624G>T
c.877G>T (p.Asp293Tyr)
c.*4086G>T (n.*4086G>T)
c.597G>T
c.994G>T (p.Asp332Tyr)
c.616G>T (p.Asp206Tyr)
c.619G>T (p.Asp207Tyr)
c.5-18507G>T (n.5-18507G>T)
c.-43-7937G>T (n.-43-7937G>T)
c.-98-32268G>T (n.-98-32268G>T)
n.197G>T
n.4439G>T
n.4480G>T
17g.43082458C>GCA10593114BRCA1c.4303G>C (p.Asp1435His)
c.4177G>C (p.Asp1393His)
c.4297G>C (p.Asp1433His)
c.4225G>C (p.Asp1409His)
c.991G>C (p.Asp331His)
c.853G>C (p.Asp285His)
c.3415G>C (p.Asp1139His)
c.4180G>C (p.Asp1394His)
c.4162G>C (p.Asp1388His)
c.868G>C (p.Asp290His)
c.913G>C (p.Asp305His)
c.624G>C
c.877G>C (p.Asp293His)
c.*4086G>C (n.*4086G>C)
c.597G>C
c.994G>C (p.Asp332His)
c.616G>C (p.Asp206His)
c.619G>C (p.Asp207His)
c.5-18507G>C (n.5-18507G>C)
c.-43-7937G>C (n.-43-7937G>C)
c.-98-32268G>C (n.-98-32268G>C)
n.197G>C
n.4439G>C
n.4480G>C
17g.43082458C>TCA10593115BRCA1c.4303G>A (p.Asp1435Asn)
c.4177G>A (p.Asp1393Asn)
c.4297G>A (p.Asp1433Asn)
c.4225G>A (p.Asp1409Asn)
c.991G>A (p.Asp331Asn)
c.853G>A (p.Asp285Asn)
c.3415G>A (p.Asp1139Asn)
c.4180G>A (p.Asp1394Asn)
c.4162G>A (p.Asp1388Asn)
c.868G>A (p.Asp290Asn)
c.913G>A (p.Asp305Asn)
c.624G>A
c.877G>A (p.Asp293Asn)
c.*4086G>A (n.*4086G>A)
c.597G>A
c.994G>A (p.Asp332Asn)
c.616G>A (p.Asp206Asn)
c.619G>A (p.Asp207Asn)
c.5-18507G>A (n.5-18507G>A)
c.-43-7937G>A (n.-43-7937G>A)
c.-98-32268G>A (n.-98-32268G>A)
n.197G>A
n.4439G>A
n.4480G>A
 dbSNP
17g.43082459A>CCA10593116BRCA1c.4302T>G (p.Ser1434Arg)
c.4176T>G (p.Ser1392Arg)
c.4296T>G (p.Ser1432Arg)
c.4224T>G (p.Ser1408Arg)
c.990T>G (p.Ser330Arg)
c.852T>G (p.Ser284Arg)
c.3414T>G (p.Ser1138Arg)
c.4179T>G (p.Ser1393Arg)
c.4161T>G (p.Ser1387Arg)
c.867T>G (p.Ser289Arg)
c.912T>G (p.Ser304Arg)
c.623T>G
c.876T>G (p.Ser292Arg)
c.*4085T>G (n.*4085T>G)
c.596T>G
c.993T>G (p.Ser331Arg)
c.615T>G (p.Ser205Arg)
c.618T>G (p.Ser206Arg)
c.5-18508T>G (n.5-18508T>G)
c.-43-7938T>G (n.-43-7938T>G)
c.-98-32269T>G (n.-98-32269T>G)
n.196T>G
n.4438T>G
n.4479T>G
17g.43082459A>GCA500148375BRCA1c.4302T>C (p.Ser1434=)
c.4176T>C (p.Ser1392=)
c.4296T>C (p.Ser1432=)
c.4224T>C (p.Ser1408=)
c.990T>C (p.Ser330=)
c.852T>C (p.Ser284=)
c.3414T>C (p.Ser1138=)
c.4179T>C (p.Ser1393=)
c.4161T>C (p.Ser1387=)
c.867T>C (p.Ser289=)
c.912T>C (p.Ser304=)
c.623T>C
c.876T>C (p.Ser292=)
c.*4085T>C (n.*4085T>C)
c.596T>C
c.993T>C (p.Ser331=)
c.615T>C (p.Ser205=)
c.618T>C (p.Ser206=)
c.5-18508T>C (n.5-18508T>C)
c.-43-7938T>C (n.-43-7938T>C)
c.-98-32269T>C (n.-98-32269T>C)
n.196T>C
n.4438T>C
n.4479T>C
17g.43082459A>TCA10593117BRCA1c.4302T>A (p.Ser1434Arg)
c.4176T>A (p.Ser1392Arg)
c.4296T>A (p.Ser1432Arg)
c.4224T>A (p.Ser1408Arg)
c.990T>A (p.Ser330Arg)
c.852T>A (p.Ser284Arg)
c.3414T>A (p.Ser1138Arg)
c.4179T>A (p.Ser1393Arg)
c.4161T>A (p.Ser1387Arg)
c.867T>A (p.Ser289Arg)
c.912T>A (p.Ser304Arg)
c.623T>A
c.876T>A (p.Ser292Arg)
c.*4085T>A (n.*4085T>A)
c.596T>A
c.993T>A (p.Ser331Arg)
c.615T>A (p.Ser205Arg)
c.618T>A (p.Ser206Arg)
c.5-18508T>A (n.5-18508T>A)
c.-43-7938T>A (n.-43-7938T>A)
c.-98-32269T>A (n.-98-32269T>A)
n.196T>A
n.4438T>A
n.4479T>A
 ClinVar dbSNP gnomAD v4
17g.43082460delCA2499224423BRCA1c.4301del (p.Ser1434MetfsTer21)
c.4301del (p.Ser1434MetfsTer22)
c.4175del (p.Ser1392MetfsTer22)
c.4295del (p.Ser1432MetfsTer22)
c.4223del (p.Ser1408MetfsTer22)
c.989del (p.Ser330MetfsTer22)
c.851del (p.Ser284MetfsTer22)
c.3413del (p.Ser1138MetfsTer22)
c.4178del (p.Ser1393MetfsTer22)
c.4301del (p.Ser1434MetfsTer?)
c.4160del (p.Ser1387MetfsTer22)
c.866del (p.Ser289MetfsTer21)
c.911del (p.Ser304MetfsTer21)
c.622del
c.875del (p.Ser292MetfsTer22)
c.*4084del (n.*4084del)
c.595del
c.992del (p.Ser331MetfsTer21)
c.614del (p.Ser205MetfsTer22)
c.617del (p.Ser206MetfsTer22)
c.5-18509del (n.5-18509del)
c.-43-7939del (n.-43-7939del)
c.-98-32270del (n.-98-32270del)
n.195del
n.4437del
n.4478del
 ClinVar
17g.43082460C>ACA10593118BRCA1c.4301G>T (p.Ser1434Ile)
c.4175G>T (p.Ser1392Ile)
c.4295G>T (p.Ser1432Ile)
c.4223G>T (p.Ser1408Ile)
c.989G>T (p.Ser330Ile)
c.851G>T (p.Ser284Ile)
c.3413G>T (p.Ser1138Ile)
c.4178G>T (p.Ser1393Ile)
c.4160G>T (p.Ser1387Ile)
c.866G>T (p.Ser289Ile)
c.911G>T (p.Ser304Ile)
c.622G>T
c.875G>T (p.Ser292Ile)
c.*4084G>T (n.*4084G>T)
c.595G>T
c.992G>T (p.Ser331Ile)
c.614G>T (p.Ser205Ile)
c.617G>T (p.Ser206Ile)
c.5-18509G>T (n.5-18509G>T)
c.-43-7939G>T (n.-43-7939G>T)
c.-98-32270G>T (n.-98-32270G>T)
n.195G>T
n.4437G>T
n.4478G>T
17g.43082460C=CA2260777993BRCA1c.4301G= (p.Ser1434=)
c.4175G= (p.Ser1392=)
c.4295G= (p.Ser1432=)
c.4223G= (p.Ser1408=)
c.989G= (p.Ser330=)
c.851G= (p.Ser284=)
c.3413G= (p.Ser1138=)
c.4178G= (p.Ser1393=)
c.4160G= (p.Ser1387=)
c.866G= (p.Ser289=)
c.911G= (p.Ser304=)
c.622G=
c.875G= (p.Ser292=)
c.*4084G= (n.*4084G=)
c.595G=
c.992G= (p.Ser331=)
c.614G= (p.Ser205=)
c.617G= (p.Ser206=)
c.5-18509G= (n.5-18509G=)
c.-43-7939G= (n.-43-7939G=)
c.-98-32270G= (n.-98-32270G=)
n.195G=
n.4437G=
n.4478G=
17g.43082460C>GCA10593119BRCA1c.4301G>C (p.Ser1434Thr)
c.4175G>C (p.Ser1392Thr)
c.4295G>C (p.Ser1432Thr)
c.4223G>C (p.Ser1408Thr)
c.989G>C (p.Ser330Thr)
c.851G>C (p.Ser284Thr)
c.3413G>C (p.Ser1138Thr)
c.4178G>C (p.Ser1393Thr)
c.4160G>C (p.Ser1387Thr)
c.866G>C (p.Ser289Thr)
c.911G>C (p.Ser304Thr)
c.622G>C
c.875G>C (p.Ser292Thr)
c.*4084G>C (n.*4084G>C)
c.595G>C
c.992G>C (p.Ser331Thr)
c.614G>C (p.Ser205Thr)
c.617G>C (p.Ser206Thr)
c.5-18509G>C (n.5-18509G>C)
c.-43-7939G>C (n.-43-7939G>C)
c.-98-32270G>C (n.-98-32270G>C)
n.195G>C
n.4437G>C
n.4478G>C
17g.43082460C>TCA10593120BRCA1c.4301G>A (p.Ser1434Asn)
c.4175G>A (p.Ser1392Asn)
c.4295G>A (p.Ser1432Asn)
c.4223G>A (p.Ser1408Asn)
c.989G>A (p.Ser330Asn)
c.851G>A (p.Ser284Asn)
c.3413G>A (p.Ser1138Asn)
c.4178G>A (p.Ser1393Asn)
c.4160G>A (p.Ser1387Asn)
c.866G>A (p.Ser289Asn)
c.911G>A (p.Ser304Asn)
c.622G>A
c.875G>A (p.Ser292Asn)
c.*4084G>A (n.*4084G>A)
c.595G>A
c.992G>A (p.Ser331Asn)
c.614G>A (p.Ser205Asn)
c.617G>A (p.Ser206Asn)
c.5-18509G>A (n.5-18509G>A)
c.-43-7939G>A (n.-43-7939G>A)
c.-98-32270G>A (n.-98-32270G>A)
n.195G>A
n.4437G>A
n.4478G>A
17g.43082461T>ACA10593121BRCA1c.4300A>T (p.Ser1434Cys)
c.4174A>T (p.Ser1392Cys)
c.4294A>T (p.Ser1432Cys)
c.4222A>T (p.Ser1408Cys)
c.988A>T (p.Ser330Cys)
c.850A>T (p.Ser284Cys)
c.3412A>T (p.Ser1138Cys)
c.4177A>T (p.Ser1393Cys)
c.4159A>T (p.Ser1387Cys)
c.865A>T (p.Ser289Cys)
c.910A>T (p.Ser304Cys)
c.621A>T
c.874A>T (p.Ser292Cys)
c.*4083A>T (n.*4083A>T)
c.594A>T
c.991A>T (p.Ser331Cys)
c.613A>T (p.Ser205Cys)
c.616A>T (p.Ser206Cys)
c.5-18510A>T (n.5-18510A>T)
c.-43-7940A>T (n.-43-7940A>T)
c.-98-32271A>T (n.-98-32271A>T)
n.194A>T
n.4436A>T
n.4477A>T
 dbSNP
17g.43082461T>CCA10593122BRCA1c.4300A>G (p.Ser1434Gly)
c.4174A>G (p.Ser1392Gly)
c.4294A>G (p.Ser1432Gly)
c.4222A>G (p.Ser1408Gly)
c.988A>G (p.Ser330Gly)
c.850A>G (p.Ser284Gly)
c.3412A>G (p.Ser1138Gly)
c.4177A>G (p.Ser1393Gly)
c.4159A>G (p.Ser1387Gly)
c.865A>G (p.Ser289Gly)
c.910A>G (p.Ser304Gly)
c.621A>G
c.874A>G (p.Ser292Gly)
c.*4083A>G (n.*4083A>G)
c.594A>G
c.991A>G (p.Ser331Gly)
c.613A>G (p.Ser205Gly)
c.616A>G (p.Ser206Gly)
c.5-18510A>G (n.5-18510A>G)
c.-43-7940A>G (n.-43-7940A>G)
c.-98-32271A>G (n.-98-32271A>G)
n.194A>G
n.4436A>G
n.4477A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082461T>GCA10593123BRCA1c.4300A>C (p.Ser1434Arg)
c.4174A>C (p.Ser1392Arg)
c.4294A>C (p.Ser1432Arg)
c.4222A>C (p.Ser1408Arg)
c.988A>C (p.Ser330Arg)
c.850A>C (p.Ser284Arg)
c.3412A>C (p.Ser1138Arg)
c.4177A>C (p.Ser1393Arg)
c.4159A>C (p.Ser1387Arg)
c.865A>C (p.Ser289Arg)
c.910A>C (p.Ser304Arg)
c.621A>C
c.874A>C (p.Ser292Arg)
c.*4083A>C (n.*4083A>C)
c.594A>C
c.991A>C (p.Ser331Arg)
c.613A>C (p.Ser205Arg)
c.616A>C (p.Ser206Arg)
c.5-18510A>C (n.5-18510A>C)
c.-43-7940A>C (n.-43-7940A>C)
c.-98-32271A>C (n.-98-32271A>C)
n.194A>C
n.4436A>C
n.4477A>C
17g.43082461T=CA2260777994BRCA1c.4300A= (p.Ser1434=)
c.4174A= (p.Ser1392=)
c.4294A= (p.Ser1432=)
c.4222A= (p.Ser1408=)
c.988A= (p.Ser330=)
c.850A= (p.Ser284=)
c.3412A= (p.Ser1138=)
c.4177A= (p.Ser1393=)
c.4159A= (p.Ser1387=)
c.865A= (p.Ser289=)
c.910A= (p.Ser304=)
c.621A=
c.874A= (p.Ser292=)
c.*4083A= (n.*4083A=)
c.594A=
c.991A= (p.Ser331=)
c.613A= (p.Ser205=)
c.616A= (p.Ser206=)
c.5-18510A= (n.5-18510A=)
c.-43-7940A= (n.-43-7940A=)
c.-98-32271A= (n.-98-32271A=)
n.194A=
n.4436A=
n.4477A=
17g.43082462dupCA002758BRCA1c.4300dup (p.Ser1434LysfsTer2)
c.4174dup (p.Ser1392LysfsTer2)
c.4294dup (p.Ser1432LysfsTer2)
c.4222dup (p.Ser1408LysfsTer2)
c.988dup (p.Ser330LysfsTer2)
c.850dup (p.Ser284LysfsTer2)
c.3412dup (p.Ser1138LysfsTer2)
c.4177dup (p.Ser1393LysfsTer2)
c.4159dup (p.Ser1387LysfsTer2)
c.865dup (p.Ser289LysfsTer2)
c.910dup (p.Ser304LysfsTer2)
c.621dup
c.874dup (p.Ser292LysfsTer2)
c.*4083dup (n.*4083dup)
c.594dup
c.991dup (p.Ser331LysfsTer2)
c.613dup (p.Ser205LysfsTer2)
c.616dup (p.Ser206LysfsTer2)
c.5-18510dup (n.5-18510dup)
c.-43-7940dup (n.-43-7940dup)
c.-98-32271dup (n.-98-32271dup)
n.194dup
n.4436dup
n.4477dup
 ClinVar dbSNP ExAC gnomAD v2
17g.43082462delCA2695225936BRCA1c.4300del (p.Ser1434ValfsTer21)
c.4300del (p.Ser1434ValfsTer22)
c.4174del (p.Ser1392ValfsTer22)
c.4294del (p.Ser1432ValfsTer22)
c.4222del (p.Ser1408ValfsTer22)
c.988del (p.Ser330ValfsTer22)
c.850del (p.Ser284ValfsTer22)
c.3412del (p.Ser1138ValfsTer22)
c.4177del (p.Ser1393ValfsTer22)
c.4300del (p.Ser1434ValfsTer?)
c.4159del (p.Ser1387ValfsTer22)
c.865del (p.Ser289ValfsTer21)
c.910del (p.Ser304ValfsTer21)
c.621del
c.874del (p.Ser292ValfsTer22)
c.*4083del (n.*4083del)
c.594del
c.991del (p.Ser331ValfsTer21)
c.613del (p.Ser205ValfsTer22)
c.616del (p.Ser206ValfsTer22)
c.5-18510del (n.5-18510del)
c.-43-7940del (n.-43-7940del)
c.-98-32271del (n.-98-32271del)
n.194del
n.4436del
n.4477del
17g.43082462T>ACA500148376BRCA1c.4299A>T (p.Ile1433=)
c.4173A>T (p.Ile1391=)
c.4293A>T (p.Ile1431=)
c.4221A>T (p.Ile1407=)
c.987A>T (p.Ile329=)
c.849A>T (p.Ile283=)
c.3411A>T (p.Ile1137=)
c.4176A>T (p.Ile1392=)
c.4158A>T (p.Ile1386=)
c.864A>T (p.Ile288=)
c.909A>T (p.Ile303=)
c.620A>T
c.873A>T (p.Ile291=)
c.*4082A>T (n.*4082A>T)
c.593A>T
c.990A>T (p.Ile330=)
c.612A>T (p.Ile204=)
c.615A>T (p.Ile205=)
c.5-18511A>T (n.5-18511A>T)
c.-43-7941A>T (n.-43-7941A>T)
c.-98-32272A>T (n.-98-32272A>T)
n.193A>T
n.4435A>T
n.4476A>T
 dbSNP
17g.43082462T>CCA10593124BRCA1c.4299A>G (p.Ile1433Met)
c.4173A>G (p.Ile1391Met)
c.4293A>G (p.Ile1431Met)
c.4221A>G (p.Ile1407Met)
c.987A>G (p.Ile329Met)
c.849A>G (p.Ile283Met)
c.3411A>G (p.Ile1137Met)
c.4176A>G (p.Ile1392Met)
c.4158A>G (p.Ile1386Met)
c.864A>G (p.Ile288Met)
c.909A>G (p.Ile303Met)
c.620A>G
c.873A>G (p.Ile291Met)
c.*4082A>G (n.*4082A>G)
c.593A>G
c.990A>G (p.Ile330Met)
c.612A>G (p.Ile204Met)
c.615A>G (p.Ile205Met)
c.5-18511A>G (n.5-18511A>G)
c.-43-7941A>G (n.-43-7941A>G)
c.-98-32272A>G (n.-98-32272A>G)
n.193A>G
n.4435A>G
n.4476A>G
17g.43082462T>GCA500148377BRCA1c.4299A>C (p.Ile1433=)
c.4173A>C (p.Ile1391=)
c.4293A>C (p.Ile1431=)
c.4221A>C (p.Ile1407=)
c.987A>C (p.Ile329=)
c.849A>C (p.Ile283=)
c.3411A>C (p.Ile1137=)
c.4176A>C (p.Ile1392=)
c.4158A>C (p.Ile1386=)
c.864A>C (p.Ile288=)
c.909A>C (p.Ile303=)
c.620A>C
c.873A>C (p.Ile291=)
c.*4082A>C (n.*4082A>C)
c.593A>C
c.990A>C (p.Ile330=)
c.612A>C (p.Ile204=)
c.615A>C (p.Ile205=)
c.5-18511A>C (n.5-18511A>C)
c.-43-7941A>C (n.-43-7941A>C)
c.-98-32272A>C (n.-98-32272A>C)
n.193A>C
n.4435A>C
n.4476A>C
17g.43082463A=CA2260777995BRCA1c.4298T= (p.Ile1433=)
c.4172T= (p.Ile1391=)
c.4292T= (p.Ile1431=)
c.4220T= (p.Ile1407=)
c.986T= (p.Ile329=)
c.848T= (p.Ile283=)
c.3410T= (p.Ile1137=)
c.4175T= (p.Ile1392=)
c.4157T= (p.Ile1386=)
c.863T= (p.Ile288=)
c.908T= (p.Ile303=)
c.619T=
c.872T= (p.Ile291=)
c.*4081T= (n.*4081T=)
c.592T=
c.989T= (p.Ile330=)
c.611T= (p.Ile204=)
c.614T= (p.Ile205=)
c.5-18512T= (n.5-18512T=)
c.-43-7942T= (n.-43-7942T=)
c.-98-32273T= (n.-98-32273T=)
n.192T=
n.4434T=
n.4475T=
17g.43082463A>CCA10593125BRCA1c.4298T>G (p.Ile1433Arg)
c.4172T>G (p.Ile1391Arg)
c.4292T>G (p.Ile1431Arg)
c.4220T>G (p.Ile1407Arg)
c.986T>G (p.Ile329Arg)
c.848T>G (p.Ile283Arg)
c.3410T>G (p.Ile1137Arg)
c.4175T>G (p.Ile1392Arg)
c.4157T>G (p.Ile1386Arg)
c.863T>G (p.Ile288Arg)
c.908T>G (p.Ile303Arg)
c.619T>G
c.872T>G (p.Ile291Arg)
c.*4081T>G (n.*4081T>G)
c.592T>G
c.989T>G (p.Ile330Arg)
c.611T>G (p.Ile204Arg)
c.614T>G (p.Ile205Arg)
c.5-18512T>G (n.5-18512T>G)
c.-43-7942T>G (n.-43-7942T>G)
c.-98-32273T>G (n.-98-32273T>G)
n.192T>G
n.4434T>G
n.4475T>G
 dbSNP
17g.43082463A>GCA10593126BRCA1c.4298T>C (p.Ile1433Thr)
c.4172T>C (p.Ile1391Thr)
c.4292T>C (p.Ile1431Thr)
c.4220T>C (p.Ile1407Thr)
c.986T>C (p.Ile329Thr)
c.848T>C (p.Ile283Thr)
c.3410T>C (p.Ile1137Thr)
c.4175T>C (p.Ile1392Thr)
c.4157T>C (p.Ile1386Thr)
c.863T>C (p.Ile288Thr)
c.908T>C (p.Ile303Thr)
c.619T>C
c.872T>C (p.Ile291Thr)
c.*4081T>C (n.*4081T>C)
c.592T>C
c.989T>C (p.Ile330Thr)
c.611T>C (p.Ile204Thr)
c.614T>C (p.Ile205Thr)
c.5-18512T>C (n.5-18512T>C)
c.-43-7942T>C (n.-43-7942T>C)
c.-98-32273T>C (n.-98-32273T>C)
n.192T>C
n.4434T>C
n.4475T>C
 ClinVar dbSNP
17g.43082463A>TCA10593127BRCA1c.4298T>A (p.Ile1433Lys)
c.4172T>A (p.Ile1391Lys)
c.4292T>A (p.Ile1431Lys)
c.4220T>A (p.Ile1407Lys)
c.986T>A (p.Ile329Lys)
c.848T>A (p.Ile283Lys)
c.3410T>A (p.Ile1137Lys)
c.4175T>A (p.Ile1392Lys)
c.4157T>A (p.Ile1386Lys)
c.863T>A (p.Ile288Lys)
c.908T>A (p.Ile303Lys)
c.619T>A
c.872T>A (p.Ile291Lys)
c.*4081T>A (n.*4081T>A)
c.592T>A
c.989T>A (p.Ile330Lys)
c.611T>A (p.Ile204Lys)
c.614T>A (p.Ile205Lys)
c.5-18512T>A (n.5-18512T>A)
c.-43-7942T>A (n.-43-7942T>A)
c.-98-32273T>A (n.-98-32273T>A)
n.192T>A
n.4434T>A
n.4475T>A
 dbSNP
17g.43082464delCA2499224424BRCA1c.4297del (p.Ile1433Ter)
c.4171del (p.Ile1391Ter)
c.4291del (p.Ile1431Ter)
c.4219del (p.Ile1407Ter)
c.985del (p.Ile329Ter)
c.847del (p.Ile283Ter)
c.3409del (p.Ile1137Ter)
c.4174del (p.Ile1392Ter)
c.4156del (p.Ile1386Ter)
c.862del (p.Ile288Ter)
c.907del (p.Ile303Ter)
c.618del
c.871del (p.Ile291Ter)
c.*4080del (n.*4080del)
c.591del
c.988del (p.Ile330Ter)
c.610del (p.Ile204Ter)
c.613del (p.Ile205Ter)
c.5-18513del (n.5-18513del)
c.-43-7943del (n.-43-7943del)
c.-98-32274del (n.-98-32274del)
n.191del
n.4433del
n.4474del
 ClinVar dbSNP
17g.43082464T>ACA10593128BRCA1c.4297A>T (p.Ile1433Leu)
c.4171A>T (p.Ile1391Leu)
c.4291A>T (p.Ile1431Leu)
c.4219A>T (p.Ile1407Leu)
c.985A>T (p.Ile329Leu)
c.847A>T (p.Ile283Leu)
c.3409A>T (p.Ile1137Leu)
c.4174A>T (p.Ile1392Leu)
c.4156A>T (p.Ile1386Leu)
c.862A>T (p.Ile288Leu)
c.907A>T (p.Ile303Leu)
c.618A>T
c.871A>T (p.Ile291Leu)
c.*4080A>T (n.*4080A>T)
c.591A>T
c.988A>T (p.Ile330Leu)
c.610A>T (p.Ile204Leu)
c.613A>T (p.Ile205Leu)
c.5-18513A>T (n.5-18513A>T)
c.-43-7943A>T (n.-43-7943A>T)
c.-98-32274A>T (n.-98-32274A>T)
n.191A>T
n.4433A>T
n.4474A>T
 gnomAD v4
17g.43082464T>CCA002754BRCA1c.4297A>G (p.Ile1433Val)
c.4171A>G (p.Ile1391Val)
c.4291A>G (p.Ile1431Val)
c.4219A>G (p.Ile1407Val)
c.985A>G (p.Ile329Val)
c.847A>G (p.Ile283Val)
c.3409A>G (p.Ile1137Val)
c.4174A>G (p.Ile1392Val)
c.4156A>G (p.Ile1386Val)
c.862A>G (p.Ile288Val)
c.907A>G (p.Ile303Val)
c.618A>G
c.871A>G (p.Ile291Val)
c.*4080A>G (n.*4080A>G)
c.591A>G
c.988A>G (p.Ile330Val)
c.610A>G (p.Ile204Val)
c.613A>G (p.Ile205Val)
c.5-18513A>G (n.5-18513A>G)
c.-43-7943A>G (n.-43-7943A>G)
c.-98-32274A>G (n.-98-32274A>G)
n.191A>G
n.4433A>G
n.4474A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082464T>GCA10593129BRCA1c.4297A>C (p.Ile1433Leu)
c.4171A>C (p.Ile1391Leu)
c.4291A>C (p.Ile1431Leu)
c.4219A>C (p.Ile1407Leu)
c.985A>C (p.Ile329Leu)
c.847A>C (p.Ile283Leu)
c.3409A>C (p.Ile1137Leu)
c.4174A>C (p.Ile1392Leu)
c.4156A>C (p.Ile1386Leu)
c.862A>C (p.Ile288Leu)
c.907A>C (p.Ile303Leu)
c.618A>C
c.871A>C (p.Ile291Leu)
c.*4080A>C (n.*4080A>C)
c.591A>C
c.988A>C (p.Ile330Leu)
c.610A>C (p.Ile204Leu)
c.613A>C (p.Ile205Leu)
c.5-18513A>C (n.5-18513A>C)
c.-43-7943A>C (n.-43-7943A>C)
c.-98-32274A>C (n.-98-32274A>C)
n.191A>C
n.4433A>C
n.4474A>C
17g.43082464T=CA2260777997BRCA1c.4297A= (p.Ile1433=)
c.4171A= (p.Ile1391=)
c.4291A= (p.Ile1431=)
c.4219A= (p.Ile1407=)
c.985A= (p.Ile329=)
c.847A= (p.Ile283=)
c.3409A= (p.Ile1137=)
c.4174A= (p.Ile1392=)
c.4156A= (p.Ile1386=)
c.862A= (p.Ile288=)
c.907A= (p.Ile303=)
c.618A=
c.871A= (p.Ile291=)
c.*4080A= (n.*4080A=)
c.591A=
c.988A= (p.Ile330=)
c.610A= (p.Ile204=)
c.613A= (p.Ile205=)
c.5-18513A= (n.5-18513A=)
c.-43-7943A= (n.-43-7943A=)
c.-98-32274A= (n.-98-32274A=)
n.191A=
n.4433A=
n.4474A=
17g.43082464_43082471delinsTGATGGAACA2260777996BRCA1c.4290_4297delinsTTCCATCA (p.Pro1430=)
c.4164_4171delinsTTCCATCA (p.Pro1388=)
c.4284_4291delinsTTCCATCA (p.Pro1428=)
c.4212_4219delinsTTCCATCA (p.Pro1404=)
c.978_985delinsTTCCATCA (p.Pro326=)
c.840_847delinsTTCCATCA (p.Pro280=)
c.3402_3409delinsTTCCATCA (p.Pro1134=)
c.4167_4174delinsTTCCATCA (p.Pro1389=)
c.4149_4156delinsTTCCATCA (p.Pro1383=)
c.855_862delinsTTCCATCA (p.Pro285=)
c.900_907delinsTTCCATCA (p.Pro300=)
c.611_618delinsTTCCATCA
c.864_871delinsTTCCATCA (p.Pro288=)
c.*4073_*4080delinsTTCCATCA (n.*4073_*4080delinsTTCCATCA)
c.584_591delinsTTCCATCA
c.981_988delinsTTCCATCA (p.Pro327=)
c.603_610delinsTTCCATCA (p.Pro201=)
c.606_613delinsTTCCATCA (p.Pro202=)
c.5-18520_5-18513delinsTTCCATCA (n.5-18520_5-18513delinsTTCCATCA)
c.-43-7950_-43-7943delinsTTCCATCA (n.-43-7950_-43-7943delinsTTCCATCA)
c.-98-32281_-98-32274delinsTTCCATCA (n.-98-32281_-98-32274delinsTTCCATCA)
n.184_191delinsTTCCATCA
n.4426_4433delinsTTCCATCA
n.4467_4474delinsTTCCATCA
17g.43082465G>ACA500148378BRCA1c.4296C>T (p.Ile1432=)
c.4170C>T (p.Ile1390=)
c.4290C>T (p.Ile1430=)
c.4218C>T (p.Ile1406=)
c.984C>T (p.Ile328=)
c.846C>T (p.Ile282=)
c.3408C>T (p.Ile1136=)
c.4173C>T (p.Ile1391=)
c.4155C>T (p.Ile1385=)
c.861C>T (p.Ile287=)
c.906C>T (p.Ile302=)
c.617C>T
c.870C>T (p.Ile290=)
c.*4079C>T (n.*4079C>T)
c.590C>T
c.987C>T (p.Ile329=)
c.609C>T (p.Ile203=)
c.612C>T (p.Ile204=)
c.5-18514C>T (n.5-18514C>T)
c.-43-7944C>T (n.-43-7944C>T)
c.-98-32275C>T (n.-98-32275C>T)
n.190C>T
n.4432C>T
n.4473C>T
 dbSNP
17g.43082465G>CCA10593130BRCA1c.4296C>G (p.Ile1432Met)
c.4170C>G (p.Ile1390Met)
c.4290C>G (p.Ile1430Met)
c.4218C>G (p.Ile1406Met)
c.984C>G (p.Ile328Met)
c.846C>G (p.Ile282Met)
c.3408C>G (p.Ile1136Met)
c.4173C>G (p.Ile1391Met)
c.4155C>G (p.Ile1385Met)
c.861C>G (p.Ile287Met)
c.906C>G (p.Ile302Met)
c.617C>G
c.870C>G (p.Ile290Met)
c.*4079C>G (n.*4079C>G)
c.590C>G
c.987C>G (p.Ile329Met)
c.609C>G (p.Ile203Met)
c.612C>G (p.Ile204Met)
c.5-18514C>G (n.5-18514C>G)
c.-43-7944C>G (n.-43-7944C>G)
c.-98-32275C>G (n.-98-32275C>G)
n.190C>G
n.4432C>G
n.4473C>G
 dbSNP
17g.43082465G>TCA500148379BRCA1c.4296C>A (p.Ile1432=)
c.4170C>A (p.Ile1390=)
c.4290C>A (p.Ile1430=)
c.4218C>A (p.Ile1406=)
c.984C>A (p.Ile328=)
c.846C>A (p.Ile282=)
c.3408C>A (p.Ile1136=)
c.4173C>A (p.Ile1391=)
c.4155C>A (p.Ile1385=)
c.861C>A (p.Ile287=)
c.906C>A (p.Ile302=)
c.617C>A
c.870C>A (p.Ile290=)
c.*4079C>A (n.*4079C>A)
c.590C>A
c.987C>A (p.Ile329=)
c.609C>A (p.Ile203=)
c.612C>A (p.Ile204=)
c.5-18514C>A (n.5-18514C>A)
c.-43-7944C>A (n.-43-7944C>A)
c.-98-32275C>A (n.-98-32275C>A)
n.190C>A
n.4432C>A
n.4473C>A
17g.43082466_43082472delCA10589671BRCA1c.4290_4296del (p.Ser1431Ter)
c.4164_4170del (p.Ser1389Ter)
c.4284_4290del (p.Ser1429Ter)
c.4212_4218del (p.Ser1405Ter)
c.978_984del (p.Ser327Ter)
c.840_846del (p.Ser281Ter)
c.3402_3408del (p.Ser1135Ter)
c.4167_4173del (p.Ser1390Ter)
c.4149_4155del (p.Ser1384Ter)
c.855_861del (p.Ser286Ter)
c.900_906del (p.Ser301Ter)
c.611_617del
c.864_870del (p.Ser289Ter)
c.*4073_*4079del (n.*4073_*4079del)
c.584_590del
c.981_987del (p.Ser328Ter)
c.603_609del (p.Ser202Ter)
c.606_612del (p.Ser203Ter)
c.5-18520_5-18514del (n.5-18520_5-18514del)
c.-43-7950_-43-7944del (n.-43-7950_-43-7944del)
c.-98-32281_-98-32275del (n.-98-32281_-98-32275del)
n.184_190del
n.4426_4432del
n.4467_4473del
 ClinVar dbSNP
17g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCTCA2260777998BRCA1c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1424=)
c.4145_4170delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1382=)
c.4265_4290delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1422=)
c.4193_4218delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1398=)
c.959_984delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln320=)
c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln274=)
c.3383_3408delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1128=)
c.4148_4173delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1383=)
c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln1377=)
c.836_861delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln279=)
c.881_906delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln294=)
c.592_617delinsAGCCTTCTAACAGCTACCCTTCCATC
c.845_870delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln282=)
c.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC (n.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.565_590delinsAGCCTTCTAACAGCTACCCTTCCATC
c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln321=)
c.584_609delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln195=)
c.587_612delinsAGCCTTCTAACAGCTACCCTTCCATC (p.Gln196=)
c.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC (n.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC)
c.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC (n.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC)
n.165_190delinsAGCCTTCTAACAGCTACCCTTCCATC
n.4407_4432delinsAGCCTTCTAACAGCTACCCTTCCATC
n.4448_4473delinsAGCCTTCTAACAGCTACCCTTCCATC
17g.43082466A>CCA10593131BRCA1c.4295T>G (p.Ile1432Ser)
c.4169T>G (p.Ile1390Ser)
c.4289T>G (p.Ile1430Ser)
c.4217T>G (p.Ile1406Ser)
c.983T>G (p.Ile328Ser)
c.845T>G (p.Ile282Ser)
c.3407T>G (p.Ile1136Ser)
c.4172T>G (p.Ile1391Ser)
c.4154T>G (p.Ile1385Ser)
c.860T>G (p.Ile287Ser)
c.905T>G (p.Ile302Ser)
c.616T>G
c.869T>G (p.Ile290Ser)
c.*4078T>G (n.*4078T>G)
c.589T>G
c.986T>G (p.Ile329Ser)
c.608T>G (p.Ile203Ser)
c.611T>G (p.Ile204Ser)
c.5-18515T>G (n.5-18515T>G)
c.-43-7945T>G (n.-43-7945T>G)
c.-98-32276T>G (n.-98-32276T>G)
n.189T>G
n.4431T>G
n.4472T>G
17g.43082466A>GCA10593132BRCA1c.4295T>C (p.Ile1432Thr)
c.4169T>C (p.Ile1390Thr)
c.4289T>C (p.Ile1430Thr)
c.4217T>C (p.Ile1406Thr)
c.983T>C (p.Ile328Thr)
c.845T>C (p.Ile282Thr)
c.3407T>C (p.Ile1136Thr)
c.4172T>C (p.Ile1391Thr)
c.4154T>C (p.Ile1385Thr)
c.860T>C (p.Ile287Thr)
c.905T>C (p.Ile302Thr)
c.616T>C
c.869T>C (p.Ile290Thr)
c.*4078T>C (n.*4078T>C)
c.589T>C
c.986T>C (p.Ile329Thr)
c.608T>C (p.Ile203Thr)
c.611T>C (p.Ile204Thr)
c.5-18515T>C (n.5-18515T>C)
c.-43-7945T>C (n.-43-7945T>C)
c.-98-32276T>C (n.-98-32276T>C)
n.189T>C
n.4431T>C
n.4472T>C
 dbSNP
17g.43082466A>TCA10593133BRCA1c.4295T>A (p.Ile1432Asn)
c.4169T>A (p.Ile1390Asn)
c.4289T>A (p.Ile1430Asn)
c.4217T>A (p.Ile1406Asn)
c.983T>A (p.Ile328Asn)
c.845T>A (p.Ile282Asn)
c.3407T>A (p.Ile1136Asn)
c.4172T>A (p.Ile1391Asn)
c.4154T>A (p.Ile1385Asn)
c.860T>A (p.Ile287Asn)
c.905T>A (p.Ile302Asn)
c.616T>A
c.869T>A (p.Ile290Asn)
c.*4078T>A (n.*4078T>A)
c.589T>A
c.986T>A (p.Ile329Asn)
c.608T>A (p.Ile203Asn)
c.611T>A (p.Ile204Asn)
c.5-18515T>A (n.5-18515T>A)
c.-43-7945T>A (n.-43-7945T>A)
c.-98-32276T>A (n.-98-32276T>A)
n.189T>A
n.4431T>A
n.4472T>A
 dbSNP
17g.43082466_43082490delCA1139665594BRCA1c.4271_4295del (p.Gln1424ProfsTer2)
c.4145_4169del (p.Gln1382ProfsTer2)
c.4265_4289del (p.Gln1422ProfsTer2)
c.4193_4217del (p.Gln1398ProfsTer2)
c.959_983del (p.Gln320ProfsTer2)
c.821_845del (p.Gln274ProfsTer2)
c.3383_3407del (p.Gln1128ProfsTer2)
c.4148_4172del (p.Gln1383ProfsTer2)
c.4130_4154del (p.Gln1377ProfsTer2)
c.836_860del (p.Gln279ProfsTer2)
c.881_905del (p.Gln294ProfsTer2)
c.592_616del
c.845_869del (p.Gln282ProfsTer2)
c.*4054_*4078del (n.*4054_*4078del)
c.565_589del
c.962_986del (p.Gln321ProfsTer2)
c.584_608del (p.Gln195ProfsTer2)
c.587_611del (p.Gln196ProfsTer2)
c.5-18539_5-18515del (n.5-18539_5-18515del)
c.-43-7969_-43-7945del (n.-43-7969_-43-7945del)
c.-98-32300_-98-32276del (n.-98-32300_-98-32276del)
n.165_189del
n.4407_4431del
n.4448_4472del
 ClinVar dbSNP
17g.43082467T>ACA10593134BRCA1c.4294A>T (p.Ile1432Phe)
c.4168A>T (p.Ile1390Phe)
c.4288A>T (p.Ile1430Phe)
c.4216A>T (p.Ile1406Phe)
c.982A>T (p.Ile328Phe)
c.844A>T (p.Ile282Phe)
c.3406A>T (p.Ile1136Phe)
c.4171A>T (p.Ile1391Phe)
c.4153A>T (p.Ile1385Phe)
c.859A>T (p.Ile287Phe)
c.904A>T (p.Ile302Phe)
c.615A>T
c.868A>T (p.Ile290Phe)
c.*4077A>T (n.*4077A>T)
c.588A>T
c.985A>T (p.Ile329Phe)
c.607A>T (p.Ile203Phe)
c.610A>T (p.Ile204Phe)
c.5-18516A>T (n.5-18516A>T)
c.-43-7946A>T (n.-43-7946A>T)
c.-98-32277A>T (n.-98-32277A>T)
n.188A>T
n.4430A>T
n.4471A>T
17g.43082467T>CCA10593135BRCA1c.4294A>G (p.Ile1432Val)
c.4168A>G (p.Ile1390Val)
c.4288A>G (p.Ile1430Val)
c.4216A>G (p.Ile1406Val)
c.982A>G (p.Ile328Val)
c.844A>G (p.Ile282Val)
c.3406A>G (p.Ile1136Val)
c.4171A>G (p.Ile1391Val)
c.4153A>G (p.Ile1385Val)
c.859A>G (p.Ile287Val)
c.904A>G (p.Ile302Val)
c.615A>G
c.868A>G (p.Ile290Val)
c.*4077A>G (n.*4077A>G)
c.588A>G
c.985A>G (p.Ile329Val)
c.607A>G (p.Ile203Val)
c.610A>G (p.Ile204Val)
c.5-18516A>G (n.5-18516A>G)
c.-43-7946A>G (n.-43-7946A>G)
c.-98-32277A>G (n.-98-32277A>G)
n.188A>G
n.4430A>G
n.4471A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43082467T>GCA002753BRCA1c.4294A>C (p.Ile1432Leu)
c.4168A>C (p.Ile1390Leu)
c.4288A>C (p.Ile1430Leu)
c.4216A>C (p.Ile1406Leu)
c.982A>C (p.Ile328Leu)
c.844A>C (p.Ile282Leu)
c.3406A>C (p.Ile1136Leu)
c.4171A>C (p.Ile1391Leu)
c.4153A>C (p.Ile1385Leu)
c.859A>C (p.Ile287Leu)
c.904A>C (p.Ile302Leu)
c.615A>C
c.868A>C (p.Ile290Leu)
c.*4077A>C (n.*4077A>C)
c.588A>C
c.985A>C (p.Ile329Leu)
c.607A>C (p.Ile203Leu)
c.610A>C (p.Ile204Leu)
c.5-18516A>C (n.5-18516A>C)
c.-43-7946A>C (n.-43-7946A>C)
c.-98-32277A>C (n.-98-32277A>C)
n.188A>C
n.4430A>C
n.4471A>C
 ClinVar dbSNP
17g.43082467T=CA2260777999BRCA1c.4294A= (p.Ile1432=)
c.4168A= (p.Ile1390=)
c.4288A= (p.Ile1430=)
c.4216A= (p.Ile1406=)
c.982A= (p.Ile328=)
c.844A= (p.Ile282=)
c.3406A= (p.Ile1136=)
c.4171A= (p.Ile1391=)
c.4153A= (p.Ile1385=)
c.859A= (p.Ile287=)
c.904A= (p.Ile302=)
c.615A=
c.868A= (p.Ile290=)
c.*4077A= (n.*4077A=)
c.588A=
c.985A= (p.Ile329=)
c.607A= (p.Ile203=)
c.610A= (p.Ile204=)
c.5-18516A= (n.5-18516A=)
c.-43-7946A= (n.-43-7946A=)
c.-98-32277A= (n.-98-32277A=)
n.188A=
n.4430A=
n.4471A=
17g.43082468G>ACA500148380BRCA1c.4293C>T (p.Ser1431=)
c.4167C>T (p.Ser1389=)
c.4287C>T (p.Ser1429=)
c.4215C>T (p.Ser1405=)
c.981C>T (p.Ser327=)
c.843C>T (p.Ser281=)
c.3405C>T (p.Ser1135=)
c.4170C>T (p.Ser1390=)
c.4152C>T (p.Ser1384=)
c.858C>T (p.Ser286=)
c.903C>T (p.Ser301=)
c.614C>T
c.867C>T (p.Ser289=)
c.*4076C>T (n.*4076C>T)
c.587C>T
c.984C>T (p.Ser328=)
c.606C>T (p.Ser202=)
c.609C>T (p.Ser203=)
c.5-18517C>T (n.5-18517C>T)
c.-43-7947C>T (n.-43-7947C>T)
c.-98-32278C>T (n.-98-32278C>T)
n.187C>T
n.4429C>T
n.4470C>T
 dbSNP
17g.43082468G>CCA500148381BRCA1c.4293C>G (p.Ser1431=)
c.4167C>G (p.Ser1389=)
c.4287C>G (p.Ser1429=)
c.4215C>G (p.Ser1405=)
c.981C>G (p.Ser327=)
c.843C>G (p.Ser281=)
c.3405C>G (p.Ser1135=)
c.4170C>G (p.Ser1390=)
c.4152C>G (p.Ser1384=)
c.858C>G (p.Ser286=)
c.903C>G (p.Ser301=)
c.614C>G
c.867C>G (p.Ser289=)
c.*4076C>G (n.*4076C>G)
c.587C>G
c.984C>G (p.Ser328=)
c.606C>G (p.Ser202=)
c.609C>G (p.Ser203=)
c.5-18517C>G (n.5-18517C>G)
c.-43-7947C>G (n.-43-7947C>G)
c.-98-32278C>G (n.-98-32278C>G)
n.187C>G
n.4429C>G
n.4470C>G
 dbSNP
17g.43082468G>TCA500148382BRCA1c.4293C>A (p.Ser1431=)
c.4167C>A (p.Ser1389=)
c.4287C>A (p.Ser1429=)
c.4215C>A (p.Ser1405=)
c.981C>A (p.Ser327=)
c.843C>A (p.Ser281=)
c.3405C>A (p.Ser1135=)
c.4170C>A (p.Ser1390=)
c.4152C>A (p.Ser1384=)
c.858C>A (p.Ser286=)
c.903C>A (p.Ser301=)
c.614C>A
c.867C>A (p.Ser289=)
c.*4076C>A (n.*4076C>A)
c.587C>A
c.984C>A (p.Ser328=)
c.606C>A (p.Ser202=)
c.609C>A (p.Ser203=)
c.5-18517C>A (n.5-18517C>A)
c.-43-7947C>A (n.-43-7947C>A)
c.-98-32278C>A (n.-98-32278C>A)
n.187C>A
n.4429C>A
n.4470C>A
17g.43082469G>ACA059831BRCA1c.4292C>T (p.Ser1431Phe)
c.4166C>T (p.Ser1389Phe)
c.4286C>T (p.Ser1429Phe)
c.4214C>T (p.Ser1405Phe)
c.980C>T (p.Ser327Phe)
c.842C>T (p.Ser281Phe)
c.3404C>T (p.Ser1135Phe)
c.4169C>T (p.Ser1390Phe)
c.4151C>T (p.Ser1384Phe)
c.857C>T (p.Ser286Phe)
c.902C>T (p.Ser301Phe)
c.613C>T
c.866C>T (p.Ser289Phe)
c.*4075C>T (n.*4075C>T)
c.586C>T
c.983C>T (p.Ser328Phe)
c.605C>T (p.Ser202Phe)
c.608C>T (p.Ser203Phe)
c.5-18518C>T (n.5-18518C>T)
c.-43-7948C>T (n.-43-7948C>T)
c.-98-32279C>T (n.-98-32279C>T)
n.186C>T
n.4428C>T
n.4469C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082469G>CCA10593136BRCA1c.4292C>G (p.Ser1431Cys)
c.4166C>G (p.Ser1389Cys)
c.4286C>G (p.Ser1429Cys)
c.4214C>G (p.Ser1405Cys)
c.980C>G (p.Ser327Cys)
c.842C>G (p.Ser281Cys)
c.3404C>G (p.Ser1135Cys)
c.4169C>G (p.Ser1390Cys)
c.4151C>G (p.Ser1384Cys)
c.857C>G (p.Ser286Cys)
c.902C>G (p.Ser301Cys)
c.613C>G
c.866C>G (p.Ser289Cys)
c.*4075C>G (n.*4075C>G)
c.586C>G
c.983C>G (p.Ser328Cys)
c.605C>G (p.Ser202Cys)
c.608C>G (p.Ser203Cys)
c.5-18518C>G (n.5-18518C>G)
c.-43-7948C>G (n.-43-7948C>G)
c.-98-32279C>G (n.-98-32279C>G)
n.186C>G
n.4428C>G
n.4469C>G
17g.43082469G=CA2260778000BRCA1c.4292C= (p.Ser1431=)
c.4166C= (p.Ser1389=)
c.4286C= (p.Ser1429=)
c.4214C= (p.Ser1405=)
c.980C= (p.Ser327=)
c.842C= (p.Ser281=)
c.3404C= (p.Ser1135=)
c.4169C= (p.Ser1390=)
c.4151C= (p.Ser1384=)
c.857C= (p.Ser286=)
c.902C= (p.Ser301=)
c.613C=
c.866C= (p.Ser289=)
c.*4075C= (n.*4075C=)
c.586C=
c.983C= (p.Ser328=)
c.605C= (p.Ser202=)
c.608C= (p.Ser203=)
c.5-18518C= (n.5-18518C=)
c.-43-7948C= (n.-43-7948C=)
c.-98-32279C= (n.-98-32279C=)
n.186C=
n.4428C=
n.4469C=
17g.43082469G>TCA10593137BRCA1c.4292C>A (p.Ser1431Tyr)
c.4166C>A (p.Ser1389Tyr)
c.4286C>A (p.Ser1429Tyr)
c.4214C>A (p.Ser1405Tyr)
c.980C>A (p.Ser327Tyr)
c.842C>A (p.Ser281Tyr)
c.3404C>A (p.Ser1135Tyr)
c.4169C>A (p.Ser1390Tyr)
c.4151C>A (p.Ser1384Tyr)
c.857C>A (p.Ser286Tyr)
c.902C>A (p.Ser301Tyr)
c.613C>A
c.866C>A (p.Ser289Tyr)
c.*4075C>A (n.*4075C>A)
c.586C>A
c.983C>A (p.Ser328Tyr)
c.605C>A (p.Ser202Tyr)
c.608C>A (p.Ser203Tyr)
c.5-18518C>A (n.5-18518C>A)
c.-43-7948C>A (n.-43-7948C>A)
c.-98-32279C>A (n.-98-32279C>A)
n.186C>A
n.4428C>A
n.4469C>A
17g.43082470A>CCA10593138BRCA1c.4291T>G (p.Ser1431Ala)
c.4165T>G (p.Ser1389Ala)
c.4285T>G (p.Ser1429Ala)
c.4213T>G (p.Ser1405Ala)
c.979T>G (p.Ser327Ala)
c.841T>G (p.Ser281Ala)
c.3403T>G (p.Ser1135Ala)
c.4168T>G (p.Ser1390Ala)
c.4150T>G (p.Ser1384Ala)
c.856T>G (p.Ser286Ala)
c.901T>G (p.Ser301Ala)
c.612T>G
c.865T>G (p.Ser289Ala)
c.*4074T>G (n.*4074T>G)
c.585T>G
c.982T>G (p.Ser328Ala)
c.604T>G (p.Ser202Ala)
c.607T>G (p.Ser203Ala)
c.5-18519T>G (n.5-18519T>G)
c.-43-7949T>G (n.-43-7949T>G)
c.-98-32280T>G (n.-98-32280T>G)
n.185T>G
n.4427T>G
n.4468T>G
17g.43082470A>GCA10593139BRCA1c.4291T>C (p.Ser1431Pro)
c.4165T>C (p.Ser1389Pro)
c.4285T>C (p.Ser1429Pro)
c.4213T>C (p.Ser1405Pro)
c.979T>C (p.Ser327Pro)
c.841T>C (p.Ser281Pro)
c.3403T>C (p.Ser1135Pro)
c.4168T>C (p.Ser1390Pro)
c.4150T>C (p.Ser1384Pro)
c.856T>C (p.Ser286Pro)
c.901T>C (p.Ser301Pro)
c.612T>C
c.865T>C (p.Ser289Pro)
c.*4074T>C (n.*4074T>C)
c.585T>C
c.982T>C (p.Ser328Pro)
c.604T>C (p.Ser202Pro)
c.607T>C (p.Ser203Pro)
c.5-18519T>C (n.5-18519T>C)
c.-43-7949T>C (n.-43-7949T>C)
c.-98-32280T>C (n.-98-32280T>C)
n.185T>C
n.4427T>C
n.4468T>C
17g.43082470A>TCA10593140BRCA1c.4291T>A (p.Ser1431Thr)
c.4165T>A (p.Ser1389Thr)
c.4285T>A (p.Ser1429Thr)
c.4213T>A (p.Ser1405Thr)
c.979T>A (p.Ser327Thr)
c.841T>A (p.Ser281Thr)
c.3403T>A (p.Ser1135Thr)
c.4168T>A (p.Ser1390Thr)
c.4150T>A (p.Ser1384Thr)
c.856T>A (p.Ser286Thr)
c.901T>A (p.Ser301Thr)
c.612T>A
c.865T>A (p.Ser289Thr)
c.*4074T>A (n.*4074T>A)
c.585T>A
c.982T>A (p.Ser328Thr)
c.604T>A (p.Ser202Thr)
c.607T>A (p.Ser203Thr)
c.5-18519T>A (n.5-18519T>A)
c.-43-7949T>A (n.-43-7949T>A)
c.-98-32280T>A (n.-98-32280T>A)
n.185T>A
n.4427T>A
n.4468T>A
 dbSNP
17g.43082471A=CA2260778001BRCA1c.4290T= (p.Pro1430=)
c.4164T= (p.Pro1388=)
c.4284T= (p.Pro1428=)
c.4212T= (p.Pro1404=)
c.978T= (p.Pro326=)
c.840T= (p.Pro280=)
c.3402T= (p.Pro1134=)
c.4167T= (p.Pro1389=)
c.4149T= (p.Pro1383=)
c.855T= (p.Pro285=)
c.900T= (p.Pro300=)
c.611T=
c.864T= (p.Pro288=)
c.*4073T= (n.*4073T=)
c.584T=
c.981T= (p.Pro327=)
c.603T= (p.Pro201=)
c.606T= (p.Pro202=)
c.5-18520T= (n.5-18520T=)
c.-43-7950T= (n.-43-7950T=)
c.-98-32281T= (n.-98-32281T=)
n.184T=
n.4426T=
n.4467T=
17g.43082471A>CCA500148383BRCA1c.4290T>G (p.Pro1430=)
c.4164T>G (p.Pro1388=)
c.4284T>G (p.Pro1428=)
c.4212T>G (p.Pro1404=)
c.978T>G (p.Pro326=)
c.840T>G (p.Pro280=)
c.3402T>G (p.Pro1134=)
c.4167T>G (p.Pro1389=)
c.4149T>G (p.Pro1383=)
c.855T>G (p.Pro285=)
c.900T>G (p.Pro300=)
c.611T>G
c.864T>G (p.Pro288=)
c.*4073T>G (n.*4073T>G)
c.584T>G
c.981T>G (p.Pro327=)
c.603T>G (p.Pro201=)
c.606T>G (p.Pro202=)
c.5-18520T>G (n.5-18520T>G)
c.-43-7950T>G (n.-43-7950T>G)
c.-98-32281T>G (n.-98-32281T>G)
n.184T>G
n.4426T>G
n.4467T>G
17g.43082471A>GCA500148384BRCA1c.4290T>C (p.Pro1430=)
c.4164T>C (p.Pro1388=)
c.4284T>C (p.Pro1428=)
c.4212T>C (p.Pro1404=)
c.978T>C (p.Pro326=)
c.840T>C (p.Pro280=)
c.3402T>C (p.Pro1134=)
c.4167T>C (p.Pro1389=)
c.4149T>C (p.Pro1383=)
c.855T>C (p.Pro285=)
c.900T>C (p.Pro300=)
c.611T>C
c.864T>C (p.Pro288=)
c.*4073T>C (n.*4073T>C)
c.584T>C
c.981T>C (p.Pro327=)
c.603T>C (p.Pro201=)
c.606T>C (p.Pro202=)
c.5-18520T>C (n.5-18520T>C)
c.-43-7950T>C (n.-43-7950T>C)
c.-98-32281T>C (n.-98-32281T>C)
n.184T>C
n.4426T>C
n.4467T>C
 ClinVar dbSNP
17g.43082471A>TCA500148385BRCA1c.4290T>A (p.Pro1430=)
c.4164T>A (p.Pro1388=)
c.4284T>A (p.Pro1428=)
c.4212T>A (p.Pro1404=)
c.978T>A (p.Pro326=)
c.840T>A (p.Pro280=)
c.3402T>A (p.Pro1134=)
c.4167T>A (p.Pro1389=)
c.4149T>A (p.Pro1383=)
c.855T>A (p.Pro285=)
c.900T>A (p.Pro300=)
c.611T>A
c.864T>A (p.Pro288=)
c.*4073T>A (n.*4073T>A)
c.584T>A
c.981T>A (p.Pro327=)
c.603T>A (p.Pro201=)
c.606T>A (p.Pro202=)
c.5-18520T>A (n.5-18520T>A)
c.-43-7950T>A (n.-43-7950T>A)
c.-98-32281T>A (n.-98-32281T>A)
n.184T>A
n.4426T>A
n.4467T>A
17g.43082473_43082477delCA2499224425BRCA1c.4286_4290del (p.Tyr1429PhefsTer5)
c.4160_4164del (p.Tyr1387PhefsTer5)
c.4280_4284del (p.Tyr1427PhefsTer5)
c.4208_4212del (p.Tyr1403PhefsTer5)
c.974_978del (p.Tyr325PhefsTer5)
c.836_840del (p.Tyr279PhefsTer5)
c.3398_3402del (p.Tyr1133PhefsTer5)
c.4163_4167del (p.Tyr1388PhefsTer5)
c.4145_4149del (p.Tyr1382PhefsTer5)
c.851_855del (p.Tyr284PhefsTer5)
c.896_900del (p.Tyr299PhefsTer5)
c.607_611del
c.860_864del (p.Tyr287PhefsTer5)
c.*4069_*4073del (n.*4069_*4073del)
c.580_584del
c.977_981del (p.Tyr326PhefsTer5)
c.599_603del (p.Tyr200PhefsTer5)
c.602_606del (p.Tyr201PhefsTer5)
c.5-18524_5-18520del (n.5-18524_5-18520del)
c.-43-7954_-43-7950del (n.-43-7954_-43-7950del)
c.-98-32285_-98-32281del (n.-98-32285_-98-32281del)
n.180_184del
n.4422_4426del
n.4463_4467del
17g.43082472G>ACA10593141BRCA1c.4289C>T (p.Pro1430Leu)
c.4163C>T (p.Pro1388Leu)
c.4283C>T (p.Pro1428Leu)
c.4211C>T (p.Pro1404Leu)
c.977C>T (p.Pro326Leu)
c.839C>T (p.Pro280Leu)
c.3401C>T (p.Pro1134Leu)
c.4166C>T (p.Pro1389Leu)
c.4148C>T (p.Pro1383Leu)
c.854C>T (p.Pro285Leu)
c.899C>T (p.Pro300Leu)
c.610C>T
c.863C>T (p.Pro288Leu)
c.*4072C>T (n.*4072C>T)
c.583C>T
c.980C>T (p.Pro327Leu)
c.602C>T (p.Pro201Leu)
c.605C>T (p.Pro202Leu)
c.5-18521C>T (n.5-18521C>T)
c.-43-7951C>T (n.-43-7951C>T)
c.-98-32282C>T (n.-98-32282C>T)
n.183C>T
n.4425C>T
n.4466C>T
 ClinVar dbSNP gnomAD v4
17g.43082472G>CCA10593142BRCA1c.4289C>G (p.Pro1430Arg)
c.4163C>G (p.Pro1388Arg)
c.4283C>G (p.Pro1428Arg)
c.4211C>G (p.Pro1404Arg)
c.977C>G (p.Pro326Arg)
c.839C>G (p.Pro280Arg)
c.3401C>G (p.Pro1134Arg)
c.4166C>G (p.Pro1389Arg)
c.4148C>G (p.Pro1383Arg)
c.854C>G (p.Pro285Arg)
c.899C>G (p.Pro300Arg)
c.610C>G
c.863C>G (p.Pro288Arg)
c.*4072C>G (n.*4072C>G)
c.583C>G
c.980C>G (p.Pro327Arg)
c.602C>G (p.Pro201Arg)
c.605C>G (p.Pro202Arg)
c.5-18521C>G (n.5-18521C>G)
c.-43-7951C>G (n.-43-7951C>G)
c.-98-32282C>G (n.-98-32282C>G)
n.183C>G
n.4425C>G
n.4466C>G
 ClinVar dbSNP
17g.43082472G=CA2260778002BRCA1c.4289C= (p.Pro1430=)
c.4163C= (p.Pro1388=)
c.4283C= (p.Pro1428=)
c.4211C= (p.Pro1404=)
c.977C= (p.Pro326=)
c.839C= (p.Pro280=)
c.3401C= (p.Pro1134=)
c.4166C= (p.Pro1389=)
c.4148C= (p.Pro1383=)
c.854C= (p.Pro285=)
c.899C= (p.Pro300=)
c.610C=
c.863C= (p.Pro288=)
c.*4072C= (n.*4072C=)
c.583C=
c.980C= (p.Pro327=)
c.602C= (p.Pro201=)
c.605C= (p.Pro202=)
c.5-18521C= (n.5-18521C=)
c.-43-7951C= (n.-43-7951C=)
c.-98-32282C= (n.-98-32282C=)
n.183C=
n.4425C=
n.4466C=
17g.43082472G>TCA10593143BRCA1c.4289C>A (p.Pro1430His)
c.4163C>A (p.Pro1388His)
c.4283C>A (p.Pro1428His)
c.4211C>A (p.Pro1404His)
c.977C>A (p.Pro326His)
c.839C>A (p.Pro280His)
c.3401C>A (p.Pro1134His)
c.4166C>A (p.Pro1389His)
c.4148C>A (p.Pro1383His)
c.854C>A (p.Pro285His)
c.899C>A (p.Pro300His)
c.610C>A
c.863C>A (p.Pro288His)
c.*4072C>A (n.*4072C>A)
c.583C>A
c.980C>A (p.Pro327His)
c.602C>A (p.Pro201His)
c.605C>A (p.Pro202His)
c.5-18521C>A (n.5-18521C>A)
c.-43-7951C>A (n.-43-7951C>A)
c.-98-32282C>A (n.-98-32282C>A)
n.183C>A
n.4425C>A
n.4466C>A
 dbSNP
17g.43082474dupCA002751BRCA1c.4289dup (p.Ser1431PhefsTer5)
c.4163dup (p.Ser1389PhefsTer5)
c.4283dup (p.Ser1429PhefsTer5)
c.4211dup (p.Ser1405PhefsTer5)
c.977dup (p.Ser327PhefsTer5)
c.839dup (p.Ser281PhefsTer5)
c.3401dup (p.Ser1135PhefsTer5)
c.4166dup (p.Ser1390PhefsTer5)
c.4148dup (p.Ser1384PhefsTer5)
c.854dup (p.Ser286PhefsTer5)
c.899dup (p.Ser301PhefsTer5)
c.610dup
c.863dup (p.Ser289PhefsTer5)
c.*4072dup (n.*4072dup)
c.583dup
c.980dup (p.Ser328PhefsTer5)
c.602dup (p.Ser202PhefsTer5)
c.605dup (p.Ser203PhefsTer5)
c.5-18521dup (n.5-18521dup)
c.-43-7951dup (n.-43-7951dup)
c.-98-32282dup (n.-98-32282dup)
n.183dup
n.4425dup
n.4466dup
 ClinVar dbSNP
17g.43082474delCA2697559866BRCA1c.4289del (p.Pro1430LeufsTer4)
c.4163del (p.Pro1388LeufsTer4)
c.4283del (p.Pro1428LeufsTer4)
c.4211del (p.Pro1404LeufsTer4)
c.977del (p.Pro326LeufsTer4)
c.839del (p.Pro280LeufsTer4)
c.3401del (p.Pro1134LeufsTer4)
c.4166del (p.Pro1389LeufsTer4)
c.4148del (p.Pro1383LeufsTer4)
c.854del (p.Pro285LeufsTer4)
c.899del (p.Pro300LeufsTer4)
c.610del
c.863del (p.Pro288LeufsTer4)
c.*4072del (n.*4072del)
c.583del
c.980del (p.Pro327LeufsTer4)
c.602del (p.Pro201LeufsTer4)
c.605del (p.Pro202LeufsTer4)
c.5-18521del (n.5-18521del)
c.-43-7951del (n.-43-7951del)
c.-98-32282del (n.-98-32282del)
n.183del
n.4425del
n.4466del
 ClinVar
17g.43082473G>ACA002750BRCA1c.4288C>T (p.Pro1430Ser)
c.4162C>T (p.Pro1388Ser)
c.4282C>T (p.Pro1428Ser)
c.4210C>T (p.Pro1404Ser)
c.976C>T (p.Pro326Ser)
c.838C>T (p.Pro280Ser)
c.3400C>T (p.Pro1134Ser)
c.4165C>T (p.Pro1389Ser)
c.4147C>T (p.Pro1383Ser)
c.853C>T (p.Pro285Ser)
c.898C>T (p.Pro300Ser)
c.609C>T
c.862C>T (p.Pro288Ser)
c.*4071C>T (n.*4071C>T)
c.582C>T
c.979C>T (p.Pro327Ser)
c.601C>T (p.Pro201Ser)
c.604C>T (p.Pro202Ser)
c.5-18522C>T (n.5-18522C>T)
c.-43-7952C>T (n.-43-7952C>T)
c.-98-32283C>T (n.-98-32283C>T)
n.182C>T
n.4424C>T
n.4465C>T
 ClinVar dbSNP gnomAD v4
17g.43082473G>CCA10593144BRCA1c.4288C>G (p.Pro1430Ala)
c.4162C>G (p.Pro1388Ala)
c.4282C>G (p.Pro1428Ala)
c.4210C>G (p.Pro1404Ala)
c.976C>G (p.Pro326Ala)
c.838C>G (p.Pro280Ala)
c.3400C>G (p.Pro1134Ala)
c.4165C>G (p.Pro1389Ala)
c.4147C>G (p.Pro1383Ala)
c.853C>G (p.Pro285Ala)
c.898C>G (p.Pro300Ala)
c.609C>G
c.862C>G (p.Pro288Ala)
c.*4071C>G (n.*4071C>G)
c.582C>G
c.979C>G (p.Pro327Ala)
c.601C>G (p.Pro201Ala)
c.604C>G (p.Pro202Ala)
c.5-18522C>G (n.5-18522C>G)
c.-43-7952C>G (n.-43-7952C>G)
c.-98-32283C>G (n.-98-32283C>G)
n.182C>G
n.4424C>G
n.4465C>G
 ClinVar dbSNP gnomAD v4
17g.43082473G=CA2260778003BRCA1c.4288C= (p.Pro1430=)
c.4162C= (p.Pro1388=)
c.4282C= (p.Pro1428=)
c.4210C= (p.Pro1404=)
c.976C= (p.Pro326=)
c.838C= (p.Pro280=)
c.3400C= (p.Pro1134=)
c.4165C= (p.Pro1389=)
c.4147C= (p.Pro1383=)
c.853C= (p.Pro285=)
c.898C= (p.Pro300=)
c.609C=
c.862C= (p.Pro288=)
c.*4071C= (n.*4071C=)
c.582C=
c.979C= (p.Pro327=)
c.601C= (p.Pro201=)
c.604C= (p.Pro202=)
c.5-18522C= (n.5-18522C=)
c.-43-7952C= (n.-43-7952C=)
c.-98-32283C= (n.-98-32283C=)
n.182C=
n.4424C=
n.4465C=
17g.43082473G>TCA10593145BRCA1c.4288C>A (p.Pro1430Thr)
c.4162C>A (p.Pro1388Thr)
c.4282C>A (p.Pro1428Thr)
c.4210C>A (p.Pro1404Thr)
c.976C>A (p.Pro326Thr)
c.838C>A (p.Pro280Thr)
c.3400C>A (p.Pro1134Thr)
c.4165C>A (p.Pro1389Thr)
c.4147C>A (p.Pro1383Thr)
c.853C>A (p.Pro285Thr)
c.898C>A (p.Pro300Thr)
c.609C>A
c.862C>A (p.Pro288Thr)
c.*4071C>A (n.*4071C>A)
c.582C>A
c.979C>A (p.Pro327Thr)
c.601C>A (p.Pro201Thr)
c.604C>A (p.Pro202Thr)
c.5-18522C>A (n.5-18522C>A)
c.-43-7952C>A (n.-43-7952C>A)
c.-98-32283C>A (n.-98-32283C>A)
n.182C>A
n.4424C>A
n.4465C>A
 dbSNP
17g.43082474G>ACA500148386BRCA1c.4287C>T (p.Tyr1429=)
c.4161C>T (p.Tyr1387=)
c.4281C>T (p.Tyr1427=)
c.4209C>T (p.Tyr1403=)
c.975C>T (p.Tyr325=)
c.837C>T (p.Tyr279=)
c.3399C>T (p.Tyr1133=)
c.4164C>T (p.Tyr1388=)
c.4146C>T (p.Tyr1382=)
c.852C>T (p.Tyr284=)
c.897C>T (p.Tyr299=)
c.608C>T
c.861C>T (p.Tyr287=)
c.*4070C>T (n.*4070C>T)
c.581C>T
c.978C>T (p.Tyr326=)
c.600C>T (p.Tyr200=)
c.603C>T (p.Tyr201=)
c.5-18523C>T (n.5-18523C>T)
c.-43-7953C>T (n.-43-7953C>T)
c.-98-32284C>T (n.-98-32284C>T)
n.181C>T
n.4423C>T
n.4464C>T
 ClinVar dbSNP
17g.43082474G>CCA10593146BRCA1c.4287C>G (p.Tyr1429Ter)
c.4161C>G (p.Tyr1387Ter)
c.4281C>G (p.Tyr1427Ter)
c.4209C>G (p.Tyr1403Ter)
c.975C>G (p.Tyr325Ter)
c.837C>G (p.Tyr279Ter)
c.3399C>G (p.Tyr1133Ter)
c.4164C>G (p.Tyr1388Ter)
c.4146C>G (p.Tyr1382Ter)
c.852C>G (p.Tyr284Ter)
c.897C>G (p.Tyr299Ter)
c.608C>G
c.861C>G (p.Tyr287Ter)
c.*4070C>G (n.*4070C>G)
c.581C>G
c.978C>G (p.Tyr326Ter)
c.600C>G (p.Tyr200Ter)
c.603C>G (p.Tyr201Ter)
c.5-18523C>G (n.5-18523C>G)
c.-43-7953C>G (n.-43-7953C>G)
c.-98-32284C>G (n.-98-32284C>G)
n.181C>G
n.4423C>G
n.4464C>G
 dbSNP
17g.43082474G=CA2260778004BRCA1c.4287C= (p.Tyr1429=)
c.4161C= (p.Tyr1387=)
c.4281C= (p.Tyr1427=)
c.4209C= (p.Tyr1403=)
c.975C= (p.Tyr325=)
c.837C= (p.Tyr279=)
c.3399C= (p.Tyr1133=)
c.4164C= (p.Tyr1388=)
c.4146C= (p.Tyr1382=)
c.852C= (p.Tyr284=)
c.897C= (p.Tyr299=)
c.608C=
c.861C= (p.Tyr287=)
c.*4070C= (n.*4070C=)
c.581C=
c.978C= (p.Tyr326=)
c.600C= (p.Tyr200=)
c.603C= (p.Tyr201=)
c.5-18523C= (n.5-18523C=)
c.-43-7953C= (n.-43-7953C=)
c.-98-32284C= (n.-98-32284C=)
n.181C=
n.4423C=
n.4464C=
17g.43082474G>TCA002749BRCA1c.4287C>A (p.Tyr1429Ter)
c.4161C>A (p.Tyr1387Ter)
c.4281C>A (p.Tyr1427Ter)
c.4209C>A (p.Tyr1403Ter)
c.975C>A (p.Tyr325Ter)
c.837C>A (p.Tyr279Ter)
c.3399C>A (p.Tyr1133Ter)
c.4164C>A (p.Tyr1388Ter)
c.4146C>A (p.Tyr1382Ter)
c.852C>A (p.Tyr284Ter)
c.897C>A (p.Tyr299Ter)
c.608C>A
c.861C>A (p.Tyr287Ter)
c.*4070C>A (n.*4070C>A)
c.581C>A
c.978C>A (p.Tyr326Ter)
c.600C>A (p.Tyr200Ter)
c.603C>A (p.Tyr201Ter)
c.5-18523C>A (n.5-18523C>A)
c.-43-7953C>A (n.-43-7953C>A)
c.-98-32284C>A (n.-98-32284C>A)
n.181C>A
n.4423C>A
n.4464C>A
 ClinVar dbSNP
17g.43082474_43082475insCCA658825018BRCA1c.4286_4287insG (p.Tyr1429Ter)
c.4160_4161insG (p.Tyr1387Ter)
c.4280_4281insG (p.Tyr1427Ter)
c.4208_4209insG (p.Tyr1403Ter)
c.974_975insG (p.Tyr325Ter)
c.836_837insG (p.Tyr279Ter)
c.3398_3399insG (p.Tyr1133Ter)
c.4163_4164insG (p.Tyr1388Ter)
c.4145_4146insG (p.Tyr1382Ter)
c.851_852insG (p.Tyr284Ter)
c.896_897insG (p.Tyr299Ter)
c.607_608insG
c.860_861insG (p.Tyr287Ter)
c.*4069_*4070insG (n.*4069_*4070insG)
c.580_581insG
c.977_978insG (p.Tyr326Ter)
c.599_600insG (p.Tyr200Ter)
c.602_603insG (p.Tyr201Ter)
c.5-18524_5-18523insG (n.5-18524_5-18523insG)
c.-43-7954_-43-7953insG (n.-43-7954_-43-7953insG)
c.-98-32285_-98-32284insG (n.-98-32285_-98-32284insG)
n.180_181insG
n.4422_4423insG
n.4463_4464insG
 ClinVar dbSNP
17g.43082475T>ACA10593147BRCA1c.4286A>T (p.Tyr1429Phe)
c.4160A>T (p.Tyr1387Phe)
c.4280A>T (p.Tyr1427Phe)
c.4208A>T (p.Tyr1403Phe)
c.974A>T (p.Tyr325Phe)
c.836A>T (p.Tyr279Phe)
c.3398A>T (p.Tyr1133Phe)
c.4163A>T (p.Tyr1388Phe)
c.4145A>T (p.Tyr1382Phe)
c.851A>T (p.Tyr284Phe)
c.896A>T (p.Tyr299Phe)
c.607A>T
c.860A>T (p.Tyr287Phe)
c.*4069A>T (n.*4069A>T)
c.580A>T
c.977A>T (p.Tyr326Phe)
c.599A>T (p.Tyr200Phe)
c.602A>T (p.Tyr201Phe)
c.5-18524A>T (n.5-18524A>T)
c.-43-7954A>T (n.-43-7954A>T)
c.-98-32285A>T (n.-98-32285A>T)
n.180A>T
n.4422A>T
n.4463A>T
 dbSNP
17g.43082475T>CCA10580526BRCA1c.4286A>G (p.Tyr1429Cys)
c.4160A>G (p.Tyr1387Cys)
c.4280A>G (p.Tyr1427Cys)
c.4208A>G (p.Tyr1403Cys)
c.974A>G (p.Tyr325Cys)
c.836A>G (p.Tyr279Cys)
c.3398A>G (p.Tyr1133Cys)
c.4163A>G (p.Tyr1388Cys)
c.4145A>G (p.Tyr1382Cys)
c.851A>G (p.Tyr284Cys)
c.896A>G (p.Tyr299Cys)
c.607A>G
c.860A>G (p.Tyr287Cys)
c.*4069A>G (n.*4069A>G)
c.580A>G
c.977A>G (p.Tyr326Cys)
c.599A>G (p.Tyr200Cys)
c.602A>G (p.Tyr201Cys)
c.5-18524A>G (n.5-18524A>G)
c.-43-7954A>G (n.-43-7954A>G)
c.-98-32285A>G (n.-98-32285A>G)
n.180A>G
n.4422A>G
n.4463A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43082475T>GCA10593148BRCA1c.4286A>C (p.Tyr1429Ser)
c.4160A>C (p.Tyr1387Ser)
c.4280A>C (p.Tyr1427Ser)
c.4208A>C (p.Tyr1403Ser)
c.974A>C (p.Tyr325Ser)
c.836A>C (p.Tyr279Ser)
c.3398A>C (p.Tyr1133Ser)
c.4163A>C (p.Tyr1388Ser)
c.4145A>C (p.Tyr1382Ser)
c.851A>C (p.Tyr284Ser)
c.896A>C (p.Tyr299Ser)
c.607A>C
c.860A>C (p.Tyr287Ser)
c.*4069A>C (n.*4069A>C)
c.580A>C
c.977A>C (p.Tyr326Ser)
c.599A>C (p.Tyr200Ser)
c.602A>C (p.Tyr201Ser)
c.5-18524A>C (n.5-18524A>C)
c.-43-7954A>C (n.-43-7954A>C)
c.-98-32285A>C (n.-98-32285A>C)
n.180A>C
n.4422A>C
n.4463A>C
 dbSNP
17g.43082475T=CA2260778005BRCA1c.4286A= (p.Tyr1429=)
c.4160A= (p.Tyr1387=)
c.4280A= (p.Tyr1427=)
c.4208A= (p.Tyr1403=)
c.974A= (p.Tyr325=)
c.836A= (p.Tyr279=)
c.3398A= (p.Tyr1133=)
c.4163A= (p.Tyr1388=)
c.4145A= (p.Tyr1382=)
c.851A= (p.Tyr284=)
c.896A= (p.Tyr299=)
c.607A=
c.860A= (p.Tyr287=)
c.*4069A= (n.*4069A=)
c.580A=
c.977A= (p.Tyr326=)
c.599A= (p.Tyr200=)
c.602A= (p.Tyr201=)
c.5-18524A= (n.5-18524A=)
c.-43-7954A= (n.-43-7954A=)
c.-98-32285A= (n.-98-32285A=)
n.180A=
n.4422A=
n.4463A=
17g.43082475_43082477delinsTAGCA2260778006BRCA1c.4284_4286delinsCTA (p.Ser1428=)
c.4158_4160delinsCTA (p.Ser1386=)
c.4278_4280delinsCTA (p.Ser1426=)
c.4206_4208delinsCTA (p.Ser1402=)
c.972_974delinsCTA (p.Ser324=)
c.834_836delinsCTA (p.Ser278=)
c.3396_3398delinsCTA (p.Ser1132=)
c.4161_4163delinsCTA (p.Ser1387=)
c.4143_4145delinsCTA (p.Ser1381=)
c.849_851delinsCTA (p.Ser283=)
c.894_896delinsCTA (p.Ser298=)
c.605_607delinsCTA
c.858_860delinsCTA (p.Ser286=)
c.*4067_*4069delinsCTA (n.*4067_*4069delinsCTA)
c.578_580delinsCTA
c.975_977delinsCTA (p.Ser325=)
c.597_599delinsCTA (p.Ser199=)
c.600_602delinsCTA (p.Ser200=)
c.5-18526_5-18524delinsCTA (n.5-18526_5-18524delinsCTA)
c.-43-7956_-43-7954delinsCTA (n.-43-7956_-43-7954delinsCTA)
c.-98-32287_-98-32285delinsCTA (n.-98-32287_-98-32285delinsCTA)
n.178_180delinsCTA
n.4420_4422delinsCTA
n.4461_4463delinsCTA
17g.43082475_43082476insCCA002748BRCA1c.4285_4286insG (p.Tyr1429Ter)
c.4159_4160insG (p.Tyr1387Ter)
c.4279_4280insG (p.Tyr1427Ter)
c.4207_4208insG (p.Tyr1403Ter)
c.973_974insG (p.Tyr325Ter)
c.835_836insG (p.Tyr279Ter)
c.3397_3398insG (p.Tyr1133Ter)
c.4162_4163insG (p.Tyr1388Ter)
c.4144_4145insG (p.Tyr1382Ter)
c.850_851insG (p.Tyr284Ter)
c.895_896insG (p.Tyr299Ter)
c.606_607insG
c.859_860insG (p.Tyr287Ter)
c.*4068_*4069insG (n.*4068_*4069insG)
c.579_580insG
c.976_977insG (p.Tyr326Ter)
c.598_599insG (p.Tyr200Ter)
c.601_602insG (p.Tyr201Ter)
c.5-18525_5-18524insG (n.5-18525_5-18524insG)
c.-43-7955_-43-7954insG (n.-43-7955_-43-7954insG)
c.-98-32286_-98-32285insG (n.-98-32286_-98-32285insG)
n.179_180insG
n.4421_4422insG
n.4462_4463insG
 ClinVar dbSNP
17g.43082476A=CA2260778007BRCA1c.4285T= (p.Tyr1429=)
c.4159T= (p.Tyr1387=)
c.4279T= (p.Tyr1427=)
c.4207T= (p.Tyr1403=)
c.973T= (p.Tyr325=)
c.835T= (p.Tyr279=)
c.3397T= (p.Tyr1133=)
c.4162T= (p.Tyr1388=)
c.4144T= (p.Tyr1382=)
c.850T= (p.Tyr284=)
c.895T= (p.Tyr299=)
c.606T=
c.859T= (p.Tyr287=)
c.*4068T= (n.*4068T=)
c.579T=
c.976T= (p.Tyr326=)
c.598T= (p.Tyr200=)
c.601T= (p.Tyr201=)
c.5-18525T= (n.5-18525T=)
c.-43-7955T= (n.-43-7955T=)
c.-98-32286T= (n.-98-32286T=)
n.179T=
n.4421T=
n.4462T=
17g.43082476A>CCA10593149BRCA1c.4285T>G (p.Tyr1429Asp)
c.4159T>G (p.Tyr1387Asp)
c.4279T>G (p.Tyr1427Asp)
c.4207T>G (p.Tyr1403Asp)
c.973T>G (p.Tyr325Asp)
c.835T>G (p.Tyr279Asp)
c.3397T>G (p.Tyr1133Asp)
c.4162T>G (p.Tyr1388Asp)
c.4144T>G (p.Tyr1382Asp)
c.850T>G (p.Tyr284Asp)
c.895T>G (p.Tyr299Asp)
c.606T>G
c.859T>G (p.Tyr287Asp)
c.*4068T>G (n.*4068T>G)
c.579T>G
c.976T>G (p.Tyr326Asp)
c.598T>G (p.Tyr200Asp)
c.601T>G (p.Tyr201Asp)
c.5-18525T>G (n.5-18525T>G)
c.-43-7955T>G (n.-43-7955T>G)
c.-98-32286T>G (n.-98-32286T>G)
n.179T>G
n.4421T>G
n.4462T>G
17g.43082476A>GCA10593150BRCA1c.4285T>C (p.Tyr1429His)
c.4159T>C (p.Tyr1387His)
c.4279T>C (p.Tyr1427His)
c.4207T>C (p.Tyr1403His)
c.973T>C (p.Tyr325His)
c.835T>C (p.Tyr279His)
c.3397T>C (p.Tyr1133His)
c.4162T>C (p.Tyr1388His)
c.4144T>C (p.Tyr1382His)
c.850T>C (p.Tyr284His)
c.895T>C (p.Tyr299His)
c.606T>C
c.859T>C (p.Tyr287His)
c.*4068T>C (n.*4068T>C)
c.579T>C
c.976T>C (p.Tyr326His)
c.598T>C (p.Tyr200His)
c.601T>C (p.Tyr201His)
c.5-18525T>C (n.5-18525T>C)
c.-43-7955T>C (n.-43-7955T>C)
c.-98-32286T>C (n.-98-32286T>C)
n.179T>C
n.4421T>C
n.4462T>C
 ClinVar dbSNP
17g.43082476A>TCA10593151BRCA1c.4285T>A (p.Tyr1429Asn)
c.4159T>A (p.Tyr1387Asn)
c.4279T>A (p.Tyr1427Asn)
c.4207T>A (p.Tyr1403Asn)
c.973T>A (p.Tyr325Asn)
c.835T>A (p.Tyr279Asn)
c.3397T>A (p.Tyr1133Asn)
c.4162T>A (p.Tyr1388Asn)
c.4144T>A (p.Tyr1382Asn)
c.850T>A (p.Tyr284Asn)
c.895T>A (p.Tyr299Asn)
c.606T>A
c.859T>A (p.Tyr287Asn)
c.*4068T>A (n.*4068T>A)
c.579T>A
c.976T>A (p.Tyr326Asn)
c.598T>A (p.Tyr200Asn)
c.601T>A (p.Tyr201Asn)
c.5-18525T>A (n.5-18525T>A)
c.-43-7955T>A (n.-43-7955T>A)
c.-98-32286T>A (n.-98-32286T>A)
n.179T>A
n.4421T>A
n.4462T>A
 dbSNP
17g.43082476dupCA10589673BRCA1c.4285dup (p.Tyr1429LeufsTer7)
c.4159dup (p.Tyr1387LeufsTer7)
c.4279dup (p.Tyr1427LeufsTer7)
c.4207dup (p.Tyr1403LeufsTer7)
c.973dup (p.Tyr325LeufsTer7)
c.835dup (p.Tyr279LeufsTer7)
c.3397dup (p.Tyr1133LeufsTer7)
c.4162dup (p.Tyr1388LeufsTer7)
c.4144dup (p.Tyr1382LeufsTer7)
c.850dup (p.Tyr284LeufsTer7)
c.895dup (p.Tyr299LeufsTer7)
c.606dup
c.859dup (p.Tyr287LeufsTer7)
c.*4068dup (n.*4068dup)
c.579dup
c.976dup (p.Tyr326LeufsTer7)
c.598dup (p.Tyr200LeufsTer7)
c.601dup (p.Tyr201LeufsTer7)
c.5-18525dup (n.5-18525dup)
c.-43-7955dup (n.-43-7955dup)
c.-98-32286dup (n.-98-32286dup)
n.179dup
n.4421dup
n.4462dup
 ClinVar dbSNP
17g.43082476_43082477delCA1139770770BRCA1c.4284_4285del (p.Ser1428ArgfsTer7)
c.4158_4159del (p.Ser1386ArgfsTer7)
c.4278_4279del (p.Ser1426ArgfsTer7)
c.4206_4207del (p.Ser1402ArgfsTer7)
c.972_973del (p.Ser324ArgfsTer7)
c.834_835del (p.Ser278ArgfsTer7)
c.3396_3397del (p.Ser1132ArgfsTer7)
c.4161_4162del (p.Ser1387ArgfsTer7)
c.4143_4144del (p.Ser1381ArgfsTer7)
c.849_850del (p.Ser283ArgfsTer7)
c.894_895del (p.Ser298ArgfsTer7)
c.605_606del
c.858_859del (p.Ser286ArgfsTer7)
c.*4067_*4068del (n.*4067_*4068del)
c.578_579del
c.975_976del (p.Ser325ArgfsTer7)
c.597_598del (p.Ser199ArgfsTer7)
c.600_601del (p.Ser200ArgfsTer7)
c.5-18526_5-18525del (n.5-18526_5-18525del)
c.-43-7956_-43-7955del (n.-43-7956_-43-7955del)
c.-98-32287_-98-32286del (n.-98-32287_-98-32286del)
n.178_179del
n.4420_4421del
n.4461_4462del
17g.43082476_43082477delinsCCA10589672BRCA1c.4284_4285delinsG (p.Ser1428ArgfsTer6)
c.4158_4159delinsG (p.Ser1386ArgfsTer6)
c.4278_4279delinsG (p.Ser1426ArgfsTer6)
c.4206_4207delinsG (p.Ser1402ArgfsTer6)
c.972_973delinsG (p.Ser324ArgfsTer6)
c.834_835delinsG (p.Ser278ArgfsTer6)
c.3396_3397delinsG (p.Ser1132ArgfsTer6)
c.4161_4162delinsG (p.Ser1387ArgfsTer6)
c.4143_4144delinsG (p.Ser1381ArgfsTer6)
c.849_850delinsG (p.Ser283ArgfsTer6)
c.894_895delinsG (p.Ser298ArgfsTer6)
c.605_606delinsG
c.858_859delinsG (p.Ser286ArgfsTer6)
c.*4067_*4068delinsG (n.*4067_*4068delinsG)
c.578_579delinsG
c.975_976delinsG (p.Ser325ArgfsTer6)
c.597_598delinsG (p.Ser199ArgfsTer6)
c.600_601delinsG (p.Ser200ArgfsTer6)
c.5-18526_5-18525delinsG (n.5-18526_5-18525delinsG)
c.-43-7956_-43-7955delinsG (n.-43-7956_-43-7955delinsG)
c.-98-32287_-98-32286delinsG (n.-98-32287_-98-32286delinsG)
n.178_179delinsG
n.4420_4421delinsG
n.4461_4462delinsG
 ClinVar dbSNP
17g.43082476_43082477insCCA658825019BRCA1c.4284_4285insG (p.Tyr1429ValfsTer7)
c.4158_4159insG (p.Tyr1387ValfsTer7)
c.4278_4279insG (p.Tyr1427ValfsTer7)
c.4206_4207insG (p.Tyr1403ValfsTer7)
c.972_973insG (p.Tyr325ValfsTer7)
c.834_835insG (p.Tyr279ValfsTer7)
c.3396_3397insG (p.Tyr1133ValfsTer7)
c.4161_4162insG (p.Tyr1388ValfsTer7)
c.4143_4144insG (p.Tyr1382ValfsTer7)
c.849_850insG (p.Tyr284ValfsTer7)
c.894_895insG (p.Tyr299ValfsTer7)
c.605_606insG
c.858_859insG (p.Tyr287ValfsTer7)
c.*4067_*4068insG (n.*4067_*4068insG)
c.578_579insG
c.975_976insG (p.Tyr326ValfsTer7)
c.597_598insG (p.Tyr200ValfsTer7)
c.600_601insG (p.Tyr201ValfsTer7)
c.5-18526_5-18525insG (n.5-18526_5-18525insG)
c.-43-7956_-43-7955insG (n.-43-7956_-43-7955insG)
c.-98-32287_-98-32286insG (n.-98-32287_-98-32286insG)
n.178_179insG
n.4420_4421insG
n.4461_4462insG
 ClinVar dbSNP
17g.43082477G>ACA500148388BRCA1c.4284C>T (p.Ser1428=)
c.4158C>T (p.Ser1386=)
c.4278C>T (p.Ser1426=)
c.4206C>T (p.Ser1402=)
c.972C>T (p.Ser324=)
c.834C>T (p.Ser278=)
c.3396C>T (p.Ser1132=)
c.4161C>T (p.Ser1387=)
c.4143C>T (p.Ser1381=)
c.849C>T (p.Ser283=)
c.894C>T (p.Ser298=)
c.605C>T
c.858C>T (p.Ser286=)
c.*4067C>T (n.*4067C>T)
c.578C>T
c.975C>T (p.Ser325=)
c.597C>T (p.Ser199=)
c.600C>T (p.Ser200=)
c.5-18526C>T (n.5-18526C>T)
c.-43-7956C>T (n.-43-7956C>T)
c.-98-32287C>T (n.-98-32287C>T)
n.178C>T
n.4420C>T
n.4461C>T
 dbSNP
17g.43082477G>CCA10593152BRCA1c.4284C>G (p.Ser1428Arg)
c.4158C>G (p.Ser1386Arg)
c.4278C>G (p.Ser1426Arg)
c.4206C>G (p.Ser1402Arg)
c.972C>G (p.Ser324Arg)
c.834C>G (p.Ser278Arg)
c.3396C>G (p.Ser1132Arg)
c.4161C>G (p.Ser1387Arg)
c.4143C>G (p.Ser1381Arg)
c.849C>G (p.Ser283Arg)
c.894C>G (p.Ser298Arg)
c.605C>G
c.858C>G (p.Ser286Arg)
c.*4067C>G (n.*4067C>G)
c.578C>G
c.975C>G (p.Ser325Arg)
c.597C>G (p.Ser199Arg)
c.600C>G (p.Ser200Arg)
c.5-18526C>G (n.5-18526C>G)
c.-43-7956C>G (n.-43-7956C>G)
c.-98-32287C>G (n.-98-32287C>G)
n.178C>G
n.4420C>G
n.4461C>G
 dbSNP
17g.43082477G=CA2260778009BRCA1c.4284C= (p.Ser1428=)
c.4158C= (p.Ser1386=)
c.4278C= (p.Ser1426=)
c.4206C= (p.Ser1402=)
c.972C= (p.Ser324=)
c.834C= (p.Ser278=)
c.3396C= (p.Ser1132=)
c.4161C= (p.Ser1387=)
c.4143C= (p.Ser1381=)
c.849C= (p.Ser283=)
c.894C= (p.Ser298=)
c.605C=
c.858C= (p.Ser286=)
c.*4067C= (n.*4067C=)
c.578C=
c.975C= (p.Ser325=)
c.597C= (p.Ser199=)
c.600C= (p.Ser200=)
c.5-18526C= (n.5-18526C=)
c.-43-7956C= (n.-43-7956C=)
c.-98-32287C= (n.-98-32287C=)
n.178C=
n.4420C=
n.4461C=
17g.43082477G>TCA10593153BRCA1c.4284C>A (p.Ser1428Arg)
c.4158C>A (p.Ser1386Arg)
c.4278C>A (p.Ser1426Arg)
c.4206C>A (p.Ser1402Arg)
c.972C>A (p.Ser324Arg)
c.834C>A (p.Ser278Arg)
c.3396C>A (p.Ser1132Arg)
c.4161C>A (p.Ser1387Arg)
c.4143C>A (p.Ser1381Arg)
c.849C>A (p.Ser283Arg)
c.894C>A (p.Ser298Arg)
c.605C>A
c.858C>A (p.Ser286Arg)
c.*4067C>A (n.*4067C>A)
c.578C>A
c.975C>A (p.Ser325Arg)
c.597C>A (p.Ser199Arg)
c.600C>A (p.Ser200Arg)
c.5-18526C>A (n.5-18526C>A)
c.-43-7956C>A (n.-43-7956C>A)
c.-98-32287C>A (n.-98-32287C>A)
n.178C>A
n.4420C>A
n.4461C>A
17g.43082477_43082479delinsGCTCA2260778008BRCA1c.4282_4284delinsAGC (p.Ser1428=)
c.4156_4158delinsAGC (p.Ser1386=)
c.4276_4278delinsAGC (p.Ser1426=)
c.4204_4206delinsAGC (p.Ser1402=)
c.970_972delinsAGC (p.Ser324=)
c.832_834delinsAGC (p.Ser278=)
c.3394_3396delinsAGC (p.Ser1132=)
c.4159_4161delinsAGC (p.Ser1387=)
c.4141_4143delinsAGC (p.Ser1381=)
c.847_849delinsAGC (p.Ser283=)
c.892_894delinsAGC (p.Ser298=)
c.603_605delinsAGC
c.856_858delinsAGC (p.Ser286=)
c.*4065_*4067delinsAGC (n.*4065_*4067delinsAGC)
c.576_578delinsAGC
c.973_975delinsAGC (p.Ser325=)
c.595_597delinsAGC (p.Ser199=)
c.598_600delinsAGC (p.Ser200=)
c.5-18528_5-18526delinsAGC (n.5-18528_5-18526delinsAGC)
c.-43-7958_-43-7956delinsAGC (n.-43-7958_-43-7956delinsAGC)
c.-98-32289_-98-32287delinsAGC (n.-98-32289_-98-32287delinsAGC)
n.176_178delinsAGC
n.4418_4420delinsAGC
n.4459_4461delinsAGC
17g.43082478C>ACA10593154BRCA1c.4283G>T (p.Ser1428Ile)
c.4157G>T (p.Ser1386Ile)
c.4277G>T (p.Ser1426Ile)
c.4205G>T (p.Ser1402Ile)
c.971G>T (p.Ser324Ile)
c.833G>T (p.Ser278Ile)
c.3395G>T (p.Ser1132Ile)
c.4160G>T (p.Ser1387Ile)
c.4142G>T (p.Ser1381Ile)
c.848G>T (p.Ser283Ile)
c.893G>T (p.Ser298Ile)
c.604G>T
c.857G>T (p.Ser286Ile)
c.*4066G>T (n.*4066G>T)
c.577G>T
c.974G>T (p.Ser325Ile)
c.596G>T (p.Ser199Ile)
c.599G>T (p.Ser200Ile)
c.5-18527G>T (n.5-18527G>T)
c.-43-7957G>T (n.-43-7957G>T)
c.-98-32288G>T (n.-98-32288G>T)
n.177G>T
n.4419G>T
n.4460G>T
 dbSNP
17g.43082478C>GCA10593155BRCA1c.4283G>C (p.Ser1428Thr)
c.4157G>C (p.Ser1386Thr)
c.4277G>C (p.Ser1426Thr)
c.4205G>C (p.Ser1402Thr)
c.971G>C (p.Ser324Thr)
c.833G>C (p.Ser278Thr)
c.3395G>C (p.Ser1132Thr)
c.4160G>C (p.Ser1387Thr)
c.4142G>C (p.Ser1381Thr)
c.848G>C (p.Ser283Thr)
c.893G>C (p.Ser298Thr)
c.604G>C
c.857G>C (p.Ser286Thr)
c.*4066G>C (n.*4066G>C)
c.577G>C
c.974G>C (p.Ser325Thr)
c.596G>C (p.Ser199Thr)
c.599G>C (p.Ser200Thr)
c.5-18527G>C (n.5-18527G>C)
c.-43-7957G>C (n.-43-7957G>C)
c.-98-32288G>C (n.-98-32288G>C)
n.177G>C
n.4419G>C
n.4460G>C
 dbSNP
17g.43082478C>TCA10593156BRCA1c.4283G>A (p.Ser1428Asn)
c.4157G>A (p.Ser1386Asn)
c.4277G>A (p.Ser1426Asn)
c.4205G>A (p.Ser1402Asn)
c.971G>A (p.Ser324Asn)
c.833G>A (p.Ser278Asn)
c.3395G>A (p.Ser1132Asn)
c.4160G>A (p.Ser1387Asn)
c.4142G>A (p.Ser1381Asn)
c.848G>A (p.Ser283Asn)
c.893G>A (p.Ser298Asn)
c.604G>A
c.857G>A (p.Ser286Asn)
c.*4066G>A (n.*4066G>A)
c.577G>A
c.974G>A (p.Ser325Asn)
c.596G>A (p.Ser199Asn)
c.599G>A (p.Ser200Asn)
c.5-18527G>A (n.5-18527G>A)
c.-43-7957G>A (n.-43-7957G>A)
c.-98-32288G>A (n.-98-32288G>A)
n.177G>A
n.4419G>A
n.4460G>A
 dbSNP
17g.43082478dupCA645373147BRCA1c.4283dup (p.Ser1428ArgfsTer8)
c.4157dup (p.Ser1386ArgfsTer8)
c.4277dup (p.Ser1426ArgfsTer8)
c.4205dup (p.Ser1402ArgfsTer8)
c.971dup (p.Ser324ArgfsTer8)
c.833dup (p.Ser278ArgfsTer8)
c.3395dup (p.Ser1132ArgfsTer8)
c.4160dup (p.Ser1387ArgfsTer8)
c.4142dup (p.Ser1381ArgfsTer8)
c.848dup (p.Ser283ArgfsTer8)
c.893dup (p.Ser298ArgfsTer8)
c.604dup
c.857dup (p.Ser286ArgfsTer8)
c.*4066dup (n.*4066dup)
c.577dup
c.974dup (p.Ser325ArgfsTer8)
c.596dup (p.Ser199ArgfsTer8)
c.599dup (p.Ser200ArgfsTer8)
c.5-18527dup (n.5-18527dup)
c.-43-7957dup (n.-43-7957dup)
c.-98-32288dup (n.-98-32288dup)
n.177dup
n.4419dup
n.4460dup
 ClinVar dbSNP
17g.43082478_43082479delCA002747BRCA1c.4282_4283del (p.Ser1428LeufsTer7)
c.4156_4157del (p.Ser1386LeufsTer7)
c.4276_4277del (p.Ser1426LeufsTer7)
c.4204_4205del (p.Ser1402LeufsTer7)
c.970_971del (p.Ser324LeufsTer7)
c.832_833del (p.Ser278LeufsTer7)
c.3394_3395del (p.Ser1132LeufsTer7)
c.4159_4160del (p.Ser1387LeufsTer7)
c.4141_4142del (p.Ser1381LeufsTer7)
c.847_848del (p.Ser283LeufsTer7)
c.892_893del (p.Ser298LeufsTer7)
c.603_604del
c.856_857del (p.Ser286LeufsTer7)
c.*4065_*4066del (n.*4065_*4066del)
c.576_577del
c.973_974del (p.Ser325LeufsTer7)
c.595_596del (p.Ser199LeufsTer7)
c.598_599del (p.Ser200LeufsTer7)
c.5-18528_5-18527del (n.5-18528_5-18527del)
c.-43-7958_-43-7957del (n.-43-7958_-43-7957del)
c.-98-32289_-98-32288del (n.-98-32289_-98-32288del)
n.176_177del
n.4418_4419del
n.4459_4460del
 ClinVar dbSNP
17g.43082478_43082479delinsCTCA2260778010BRCA1c.4282_4283delinsAG (p.Ser1428=)
c.4156_4157delinsAG (p.Ser1386=)
c.4276_4277delinsAG (p.Ser1426=)
c.4204_4205delinsAG (p.Ser1402=)
c.970_971delinsAG (p.Ser324=)
c.832_833delinsAG (p.Ser278=)
c.3394_3395delinsAG (p.Ser1132=)
c.4159_4160delinsAG (p.Ser1387=)
c.4141_4142delinsAG (p.Ser1381=)
c.847_848delinsAG (p.Ser283=)
c.892_893delinsAG (p.Ser298=)
c.603_604delinsAG
c.856_857delinsAG (p.Ser286=)
c.*4065_*4066delinsAG (n.*4065_*4066delinsAG)
c.576_577delinsAG
c.973_974delinsAG (p.Ser325=)
c.595_596delinsAG (p.Ser199=)
c.598_599delinsAG (p.Ser200=)
c.5-18528_5-18527delinsAG (n.5-18528_5-18527delinsAG)
c.-43-7958_-43-7957delinsAG (n.-43-7958_-43-7957delinsAG)
c.-98-32289_-98-32288delinsAG (n.-98-32289_-98-32288delinsAG)
n.176_177delinsAG
n.4418_4419delinsAG
n.4459_4460delinsAG
17g.43082479delCA658656655BRCA1c.4282del (p.Ser1428AlafsTer6)
c.4156del (p.Ser1386AlafsTer6)
c.4276del (p.Ser1426AlafsTer6)
c.4204del (p.Ser1402AlafsTer6)
c.970del (p.Ser324AlafsTer6)
c.832del (p.Ser278AlafsTer6)
c.3394del (p.Ser1132AlafsTer6)
c.4159del (p.Ser1387AlafsTer6)
c.4141del (p.Ser1381AlafsTer6)
c.847del (p.Ser283AlafsTer6)
c.892del (p.Ser298AlafsTer6)
c.603del
c.856del (p.Ser286AlafsTer6)
c.*4065del (n.*4065del)
c.576del
c.973del (p.Ser325AlafsTer6)
c.595del (p.Ser199AlafsTer6)
c.598del (p.Ser200AlafsTer6)
c.5-18528del (n.5-18528del)
c.-43-7958del (n.-43-7958del)
c.-98-32289del (n.-98-32289del)
n.176del
n.4418del
n.4459del
 ClinVar dbSNP
17g.43082479T>ACA10593157BRCA1c.4282A>T (p.Ser1428Cys)
c.4156A>T (p.Ser1386Cys)
c.4276A>T (p.Ser1426Cys)
c.4204A>T (p.Ser1402Cys)
c.970A>T (p.Ser324Cys)
c.832A>T (p.Ser278Cys)
c.3394A>T (p.Ser1132Cys)
c.4159A>T (p.Ser1387Cys)
c.4141A>T (p.Ser1381Cys)
c.847A>T (p.Ser283Cys)
c.892A>T (p.Ser298Cys)
c.603A>T
c.856A>T (p.Ser286Cys)
c.*4065A>T (n.*4065A>T)
c.576A>T
c.973A>T (p.Ser325Cys)
c.595A>T (p.Ser199Cys)
c.598A>T (p.Ser200Cys)
c.5-18528A>T (n.5-18528A>T)
c.-43-7958A>T (n.-43-7958A>T)
c.-98-32289A>T (n.-98-32289A>T)
n.176A>T
n.4418A>T
n.4459A>T
17g.43082479T>CCA10593158BRCA1c.4282A>G (p.Ser1428Gly)
c.4156A>G (p.Ser1386Gly)
c.4276A>G (p.Ser1426Gly)
c.4204A>G (p.Ser1402Gly)
c.970A>G (p.Ser324Gly)
c.832A>G (p.Ser278Gly)
c.3394A>G (p.Ser1132Gly)
c.4159A>G (p.Ser1387Gly)
c.4141A>G (p.Ser1381Gly)
c.847A>G (p.Ser283Gly)
c.892A>G (p.Ser298Gly)
c.603A>G
c.856A>G (p.Ser286Gly)
c.*4065A>G (n.*4065A>G)
c.576A>G
c.973A>G (p.Ser325Gly)
c.595A>G (p.Ser199Gly)
c.598A>G (p.Ser200Gly)
c.5-18528A>G (n.5-18528A>G)
c.-43-7958A>G (n.-43-7958A>G)
c.-98-32289A>G (n.-98-32289A>G)
n.176A>G
n.4418A>G
n.4459A>G
 dbSNP
17g.43082479T>GCA10593159BRCA1c.4282A>C (p.Ser1428Arg)
c.4156A>C (p.Ser1386Arg)
c.4276A>C (p.Ser1426Arg)
c.4204A>C (p.Ser1402Arg)
c.970A>C (p.Ser324Arg)
c.832A>C (p.Ser278Arg)
c.3394A>C (p.Ser1132Arg)
c.4159A>C (p.Ser1387Arg)
c.4141A>C (p.Ser1381Arg)
c.847A>C (p.Ser283Arg)
c.892A>C (p.Ser298Arg)
c.603A>C
c.856A>C (p.Ser286Arg)
c.*4065A>C (n.*4065A>C)
c.576A>C
c.973A>C (p.Ser325Arg)
c.595A>C (p.Ser199Arg)
c.598A>C (p.Ser200Arg)
c.5-18528A>C (n.5-18528A>C)
c.-43-7958A>C (n.-43-7958A>C)
c.-98-32289A>C (n.-98-32289A>C)
n.176A>C
n.4418A>C
n.4459A>C
17g.43082479T=CA2260778011BRCA1c.4282A= (p.Ser1428=)
c.4156A= (p.Ser1386=)
c.4276A= (p.Ser1426=)
c.4204A= (p.Ser1402=)
c.970A= (p.Ser324=)
c.832A= (p.Ser278=)
c.3394A= (p.Ser1132=)
c.4159A= (p.Ser1387=)
c.4141A= (p.Ser1381=)
c.847A= (p.Ser283=)
c.892A= (p.Ser298=)
c.603A=
c.856A= (p.Ser286=)
c.*4065A= (n.*4065A=)
c.576A=
c.973A= (p.Ser325=)
c.595A= (p.Ser199=)
c.598A= (p.Ser200=)
c.5-18528A= (n.5-18528A=)
c.-43-7958A= (n.-43-7958A=)
c.-98-32289A= (n.-98-32289A=)
n.176A=
n.4418A=
n.4459A=
17g.43082480G>ACA500148390BRCA1c.4281C>T (p.Asn1427=)
c.4155C>T (p.Asn1385=)
c.4275C>T (p.Asn1425=)
c.4203C>T (p.Asn1401=)
c.969C>T (p.Asn323=)
c.831C>T (p.Asn277=)
c.3393C>T (p.Asn1131=)
c.4158C>T (p.Asn1386=)
c.4140C>T (p.Asn1380=)
c.846C>T (p.Asn282=)
c.891C>T (p.Asn297=)
c.602C>T
c.855C>T (p.Asn285=)
c.*4064C>T (n.*4064C>T)
c.575C>T
c.972C>T (p.Asn324=)
c.594C>T (p.Asn198=)
c.597C>T (p.Asn199=)
c.5-18529C>T (n.5-18529C>T)
c.-43-7959C>T (n.-43-7959C>T)
c.-98-32290C>T (n.-98-32290C>T)
n.175C>T
n.4417C>T
n.4458C>T
 ClinVar dbSNP gnomAD v4
17g.43082480G>CCA10593160BRCA1c.4281C>G (p.Asn1427Lys)
c.4155C>G (p.Asn1385Lys)
c.4275C>G (p.Asn1425Lys)
c.4203C>G (p.Asn1401Lys)
c.969C>G (p.Asn323Lys)
c.831C>G (p.Asn277Lys)
c.3393C>G (p.Asn1131Lys)
c.4158C>G (p.Asn1386Lys)
c.4140C>G (p.Asn1380Lys)
c.846C>G (p.Asn282Lys)
c.891C>G (p.Asn297Lys)
c.602C>G
c.855C>G (p.Asn285Lys)
c.*4064C>G (n.*4064C>G)
c.575C>G
c.972C>G (p.Asn324Lys)
c.594C>G (p.Asn198Lys)
c.597C>G (p.Asn199Lys)
c.5-18529C>G (n.5-18529C>G)
c.-43-7959C>G (n.-43-7959C>G)
c.-98-32290C>G (n.-98-32290C>G)
n.175C>G
n.4417C>G
n.4458C>G
 ClinVar dbSNP
17g.43082480G=CA2260778012BRCA1c.4281C= (p.Asn1427=)
c.4155C= (p.Asn1385=)
c.4275C= (p.Asn1425=)
c.4203C= (p.Asn1401=)
c.969C= (p.Asn323=)
c.831C= (p.Asn277=)
c.3393C= (p.Asn1131=)
c.4158C= (p.Asn1386=)
c.4140C= (p.Asn1380=)
c.846C= (p.Asn282=)
c.891C= (p.Asn297=)
c.602C=
c.855C= (p.Asn285=)
c.*4064C= (n.*4064C=)
c.575C=
c.972C= (p.Asn324=)
c.594C= (p.Asn198=)
c.597C= (p.Asn199=)
c.5-18529C= (n.5-18529C=)
c.-43-7959C= (n.-43-7959C=)
c.-98-32290C= (n.-98-32290C=)
n.175C=
n.4417C=
n.4458C=
17g.43082480G>TCA10593161BRCA1c.4281C>A (p.Asn1427Lys)
c.4155C>A (p.Asn1385Lys)
c.4275C>A (p.Asn1425Lys)
c.4203C>A (p.Asn1401Lys)
c.969C>A (p.Asn323Lys)
c.831C>A (p.Asn277Lys)
c.3393C>A (p.Asn1131Lys)
c.4158C>A (p.Asn1386Lys)
c.4140C>A (p.Asn1380Lys)
c.846C>A (p.Asn282Lys)
c.891C>A (p.Asn297Lys)
c.602C>A
c.855C>A (p.Asn285Lys)
c.*4064C>A (n.*4064C>A)
c.575C>A
c.972C>A (p.Asn324Lys)
c.594C>A (p.Asn198Lys)
c.597C>A (p.Asn199Lys)
c.5-18529C>A (n.5-18529C>A)
c.-43-7959C>A (n.-43-7959C>A)
c.-98-32290C>A (n.-98-32290C>A)
n.175C>A
n.4417C>A
n.4458C>A
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.43082481T>ACA10593162BRCA1c.4280A>T (p.Asn1427Ile)
c.4154A>T (p.Asn1385Ile)
c.4274A>T (p.Asn1425Ile)
c.4202A>T (p.Asn1401Ile)
c.968A>T (p.Asn323Ile)
c.830A>T (p.Asn277Ile)
c.3392A>T (p.Asn1131Ile)
c.4157A>T (p.Asn1386Ile)
c.4139A>T (p.Asn1380Ile)
c.845A>T (p.Asn282Ile)
c.890A>T (p.Asn297Ile)
c.601A>T
c.854A>T (p.Asn285Ile)
c.*4063A>T (n.*4063A>T)
c.574A>T
c.971A>T (p.Asn324Ile)
c.593A>T (p.Asn198Ile)
c.596A>T (p.Asn199Ile)
c.5-18530A>T (n.5-18530A>T)
c.-43-7960A>T (n.-43-7960A>T)
c.-98-32291A>T (n.-98-32291A>T)
n.174A>T
n.4416A>T
n.4457A>T
 dbSNP
17g.43082481T>CCA10593163BRCA1c.4280A>G (p.Asn1427Ser)
c.4154A>G (p.Asn1385Ser)
c.4274A>G (p.Asn1425Ser)
c.4202A>G (p.Asn1401Ser)
c.968A>G (p.Asn323Ser)
c.830A>G (p.Asn277Ser)
c.3392A>G (p.Asn1131Ser)
c.4157A>G (p.Asn1386Ser)
c.4139A>G (p.Asn1380Ser)
c.845A>G (p.Asn282Ser)
c.890A>G (p.Asn297Ser)
c.601A>G
c.854A>G (p.Asn285Ser)
c.*4063A>G (n.*4063A>G)
c.574A>G
c.971A>G (p.Asn324Ser)
c.593A>G (p.Asn198Ser)
c.596A>G (p.Asn199Ser)
c.5-18530A>G (n.5-18530A>G)
c.-43-7960A>G (n.-43-7960A>G)
c.-98-32291A>G (n.-98-32291A>G)
n.174A>G
n.4416A>G
n.4457A>G
 dbSNP
17g.43082481T>GCA10593164BRCA1c.4280A>C (p.Asn1427Thr)
c.4154A>C (p.Asn1385Thr)
c.4274A>C (p.Asn1425Thr)
c.4202A>C (p.Asn1401Thr)
c.968A>C (p.Asn323Thr)
c.830A>C (p.Asn277Thr)
c.3392A>C (p.Asn1131Thr)
c.4157A>C (p.Asn1386Thr)
c.4139A>C (p.Asn1380Thr)
c.845A>C (p.Asn282Thr)
c.890A>C (p.Asn297Thr)
c.601A>C
c.854A>C (p.Asn285Thr)
c.*4063A>C (n.*4063A>C)
c.574A>C
c.971A>C (p.Asn324Thr)
c.593A>C (p.Asn198Thr)
c.596A>C (p.Asn199Thr)
c.5-18530A>C (n.5-18530A>C)
c.-43-7960A>C (n.-43-7960A>C)
c.-98-32291A>C (n.-98-32291A>C)
n.174A>C
n.4416A>C
n.4457A>C
 dbSNP
17g.43082482delCA2809539548BRCA1c.4280del (p.Asn1427ThrfsTer7)
c.4154del (p.Asn1385ThrfsTer7)
c.4274del (p.Asn1425ThrfsTer7)
c.4202del (p.Asn1401ThrfsTer7)
c.968del (p.Asn323ThrfsTer7)
c.830del (p.Asn277ThrfsTer7)
c.3392del (p.Asn1131ThrfsTer7)
c.4157del (p.Asn1386ThrfsTer7)
c.4139del (p.Asn1380ThrfsTer7)
c.845del (p.Asn282ThrfsTer7)
c.890del (p.Asn297ThrfsTer7)
c.601del
c.854del (p.Asn285ThrfsTer7)
c.*4063del (n.*4063del)
c.574del
c.971del (p.Asn324ThrfsTer7)
c.593del (p.Asn198ThrfsTer7)
c.596del (p.Asn199ThrfsTer7)
c.5-18530del (n.5-18530del)
c.-43-7960del (n.-43-7960del)
c.-98-32291del (n.-98-32291del)
n.174del
n.4416del
n.4457del
17g.43082482T>ACA10593165BRCA1c.4279A>T (p.Asn1427Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4273A>T (p.Asn1425Tyr)
c.4201A>T (p.Asn1401Tyr)
c.967A>T (p.Asn323Tyr)
c.829A>T (p.Asn277Tyr)
c.3391A>T (p.Asn1131Tyr)
c.4156A>T (p.Asn1386Tyr)
c.4138A>T (p.Asn1380Tyr)
c.844A>T (p.Asn282Tyr)
c.889A>T (p.Asn297Tyr)
c.600A>T
c.853A>T (p.Asn285Tyr)
c.*4062A>T (n.*4062A>T)
c.573A>T
c.970A>T (p.Asn324Tyr)
c.592A>T (p.Asn198Tyr)
c.595A>T (p.Asn199Tyr)
c.5-18531A>T (n.5-18531A>T)
c.-43-7961A>T (n.-43-7961A>T)
c.-98-32292A>T (n.-98-32292A>T)
n.173A>T
n.4415A>T
n.4456A>T
 dbSNP
17g.43082482T>CCA10593166BRCA1c.4279A>G (p.Asn1427Asp)
c.4153A>G (p.Asn1385Asp)
c.4273A>G (p.Asn1425Asp)
c.4201A>G (p.Asn1401Asp)
c.967A>G (p.Asn323Asp)
c.829A>G (p.Asn277Asp)
c.3391A>G (p.Asn1131Asp)
c.4156A>G (p.Asn1386Asp)
c.4138A>G (p.Asn1380Asp)
c.844A>G (p.Asn282Asp)
c.889A>G (p.Asn297Asp)
c.600A>G
c.853A>G (p.Asn285Asp)
c.*4062A>G (n.*4062A>G)
c.573A>G
c.970A>G (p.Asn324Asp)
c.592A>G (p.Asn198Asp)
c.595A>G (p.Asn199Asp)
c.5-18531A>G (n.5-18531A>G)
c.-43-7961A>G (n.-43-7961A>G)
c.-98-32292A>G (n.-98-32292A>G)
n.173A>G
n.4415A>G
n.4456A>G
 dbSNP
17g.43082482T>GCA10593167BRCA1c.4279A>C (p.Asn1427His)
c.4153A>C (p.Asn1385His)
c.4273A>C (p.Asn1425His)
c.4201A>C (p.Asn1401His)
c.967A>C (p.Asn323His)
c.829A>C (p.Asn277His)
c.3391A>C (p.Asn1131His)
c.4156A>C (p.Asn1386His)
c.4138A>C (p.Asn1380His)
c.844A>C (p.Asn282His)
c.889A>C (p.Asn297His)
c.600A>C
c.853A>C (p.Asn285His)
c.*4062A>C (n.*4062A>C)
c.573A>C
c.970A>C (p.Asn324His)
c.592A>C (p.Asn198His)
c.595A>C (p.Asn199His)
c.5-18531A>C (n.5-18531A>C)
c.-43-7961A>C (n.-43-7961A>C)
c.-98-32292A>C (n.-98-32292A>C)
n.173A>C
n.4415A>C
n.4456A>C
 dbSNP
17g.43082483A>CCA500148391BRCA1c.4278T>G (p.Ser1426=)
c.4152T>G (p.Ser1384=)
c.4272T>G (p.Ser1424=)
c.4200T>G (p.Ser1400=)
c.966T>G (p.Ser322=)
c.828T>G (p.Ser276=)
c.3390T>G (p.Ser1130=)
c.4155T>G (p.Ser1385=)
c.4137T>G (p.Ser1379=)
c.843T>G (p.Ser281=)
c.888T>G (p.Ser296=)
c.599T>G
c.852T>G (p.Ser284=)
c.*4061T>G (n.*4061T>G)
c.572T>G
c.969T>G (p.Ser323=)
c.591T>G (p.Ser197=)
c.594T>G (p.Ser198=)
c.5-18532T>G (n.5-18532T>G)
c.-43-7962T>G (n.-43-7962T>G)
c.-98-32293T>G (n.-98-32293T>G)
n.172T>G
n.4414T>G
n.4455T>G
17g.43082483A>GCA500148392BRCA1c.4278T>C (p.Ser1426=)
c.4152T>C (p.Ser1384=)
c.4272T>C (p.Ser1424=)
c.4200T>C (p.Ser1400=)
c.966T>C (p.Ser322=)
c.828T>C (p.Ser276=)
c.3390T>C (p.Ser1130=)
c.4155T>C (p.Ser1385=)
c.4137T>C (p.Ser1379=)
c.843T>C (p.Ser281=)
c.888T>C (p.Ser296=)
c.599T>C
c.852T>C (p.Ser284=)
c.*4061T>C (n.*4061T>C)
c.572T>C
c.969T>C (p.Ser323=)
c.591T>C (p.Ser197=)
c.594T>C (p.Ser198=)
c.5-18532T>C (n.5-18532T>C)
c.-43-7962T>C (n.-43-7962T>C)
c.-98-32293T>C (n.-98-32293T>C)
n.172T>C
n.4414T>C
n.4455T>C
17g.43082483A>TCA500148393BRCA1c.4278T>A (p.Ser1426=)
c.4152T>A (p.Ser1384=)
c.4272T>A (p.Ser1424=)
c.4200T>A (p.Ser1400=)
c.966T>A (p.Ser322=)
c.828T>A (p.Ser276=)
c.3390T>A (p.Ser1130=)
c.4155T>A (p.Ser1385=)
c.4137T>A (p.Ser1379=)
c.843T>A (p.Ser281=)
c.888T>A (p.Ser296=)
c.599T>A
c.852T>A (p.Ser284=)
c.*4061T>A (n.*4061T>A)
c.572T>A
c.969T>A (p.Ser323=)
c.591T>A (p.Ser197=)
c.594T>A (p.Ser198=)
c.5-18532T>A (n.5-18532T>A)
c.-43-7962T>A (n.-43-7962T>A)
c.-98-32293T>A (n.-98-32293T>A)
n.172T>A
n.4414T>A
n.4455T>A
17g.43082484G>ACA10593168BRCA1c.4277C>T (p.Ser1426Phe)
c.4151C>T (p.Ser1384Phe)
c.4271C>T (p.Ser1424Phe)
c.4199C>T (p.Ser1400Phe)
c.965C>T (p.Ser322Phe)
c.827C>T (p.Ser276Phe)
c.3389C>T (p.Ser1130Phe)
c.4154C>T (p.Ser1385Phe)
c.4136C>T (p.Ser1379Phe)
c.842C>T (p.Ser281Phe)
c.887C>T (p.Ser296Phe)
c.598C>T
c.851C>T (p.Ser284Phe)
c.*4060C>T (n.*4060C>T)
c.571C>T
c.968C>T (p.Ser323Phe)
c.590C>T (p.Ser197Phe)
c.593C>T (p.Ser198Phe)
c.5-18533C>T (n.5-18533C>T)
c.-43-7963C>T (n.-43-7963C>T)
c.-98-32294C>T (n.-98-32294C>T)
n.171C>T
n.4413C>T
n.4454C>T
 dbSNP
17g.43082484G>CCA10593169BRCA1c.4277C>G (p.Ser1426Cys)
c.4151C>G (p.Ser1384Cys)
c.4271C>G (p.Ser1424Cys)
c.4199C>G (p.Ser1400Cys)
c.965C>G (p.Ser322Cys)
c.827C>G (p.Ser276Cys)
c.3389C>G (p.Ser1130Cys)
c.4154C>G (p.Ser1385Cys)
c.4136C>G (p.Ser1379Cys)
c.842C>G (p.Ser281Cys)
c.887C>G (p.Ser296Cys)
c.598C>G
c.851C>G (p.Ser284Cys)
c.*4060C>G (n.*4060C>G)
c.571C>G
c.968C>G (p.Ser323Cys)
c.590C>G (p.Ser197Cys)
c.593C>G (p.Ser198Cys)
c.5-18533C>G (n.5-18533C>G)
c.-43-7963C>G (n.-43-7963C>G)
c.-98-32294C>G (n.-98-32294C>G)
n.171C>G
n.4413C>G
n.4454C>G
 dbSNP
17g.43082484G>TCA10593170BRCA1c.4277C>A (p.Ser1426Tyr)
c.4151C>A (p.Ser1384Tyr)
c.4271C>A (p.Ser1424Tyr)
c.4199C>A (p.Ser1400Tyr)
c.965C>A (p.Ser322Tyr)
c.827C>A (p.Ser276Tyr)
c.3389C>A (p.Ser1130Tyr)
c.4154C>A (p.Ser1385Tyr)
c.4136C>A (p.Ser1379Tyr)
c.842C>A (p.Ser281Tyr)
c.887C>A (p.Ser296Tyr)
c.598C>A
c.851C>A (p.Ser284Tyr)
c.*4060C>A (n.*4060C>A)
c.571C>A
c.968C>A (p.Ser323Tyr)
c.590C>A (p.Ser197Tyr)
c.593C>A (p.Ser198Tyr)
c.5-18533C>A (n.5-18533C>A)
c.-43-7963C>A (n.-43-7963C>A)
c.-98-32294C>A (n.-98-32294C>A)
n.171C>A
n.4413C>A
n.4454C>A
 dbSNP
17g.43082484_43082485delinsGACA2260778013BRCA1c.4276_4277delinsTC (p.Ser1426=)
c.4150_4151delinsTC (p.Ser1384=)
c.4270_4271delinsTC (p.Ser1424=)
c.4198_4199delinsTC (p.Ser1400=)
c.964_965delinsTC (p.Ser322=)
c.826_827delinsTC (p.Ser276=)
c.3388_3389delinsTC (p.Ser1130=)
c.4153_4154delinsTC (p.Ser1385=)
c.4135_4136delinsTC (p.Ser1379=)
c.841_842delinsTC (p.Ser281=)
c.886_887delinsTC (p.Ser296=)
c.597_598delinsTC
c.850_851delinsTC (p.Ser284=)
c.*4059_*4060delinsTC (n.*4059_*4060delinsTC)
c.570_571delinsTC
c.967_968delinsTC (p.Ser323=)
c.589_590delinsTC (p.Ser197=)
c.592_593delinsTC (p.Ser198=)
c.5-18534_5-18533delinsTC (n.5-18534_5-18533delinsTC)
c.-43-7964_-43-7963delinsTC (n.-43-7964_-43-7963delinsTC)
c.-98-32295_-98-32294delinsTC (n.-98-32295_-98-32294delinsTC)
n.170_171delinsTC
n.4412_4413delinsTC
n.4453_4454delinsTC
17g.43082485A>CCA10593171BRCA1c.4276T>G (p.Ser1426Ala)
c.4150T>G (p.Ser1384Ala)
c.4270T>G (p.Ser1424Ala)
c.4198T>G (p.Ser1400Ala)
c.964T>G (p.Ser322Ala)
c.826T>G (p.Ser276Ala)
c.3388T>G (p.Ser1130Ala)
c.4153T>G (p.Ser1385Ala)
c.4135T>G (p.Ser1379Ala)
c.841T>G (p.Ser281Ala)
c.886T>G (p.Ser296Ala)
c.597T>G
c.850T>G (p.Ser284Ala)
c.*4059T>G (n.*4059T>G)
c.570T>G
c.967T>G (p.Ser323Ala)
c.589T>G (p.Ser197Ala)
c.592T>G (p.Ser198Ala)
c.5-18534T>G (n.5-18534T>G)
c.-43-7964T>G (n.-43-7964T>G)
c.-98-32295T>G (n.-98-32295T>G)
n.170T>G
n.4412T>G
n.4453T>G
17g.43082485A>GCA10593172BRCA1c.4276T>C (p.Ser1426Pro)
c.4150T>C (p.Ser1384Pro)
c.4270T>C (p.Ser1424Pro)
c.4198T>C (p.Ser1400Pro)
c.964T>C (p.Ser322Pro)
c.826T>C (p.Ser276Pro)
c.3388T>C (p.Ser1130Pro)
c.4153T>C (p.Ser1385Pro)
c.4135T>C (p.Ser1379Pro)
c.841T>C (p.Ser281Pro)
c.886T>C (p.Ser296Pro)
c.597T>C
c.850T>C (p.Ser284Pro)
c.*4059T>C (n.*4059T>C)
c.570T>C
c.967T>C (p.Ser323Pro)
c.589T>C (p.Ser197Pro)
c.592T>C (p.Ser198Pro)
c.5-18534T>C (n.5-18534T>C)
c.-43-7964T>C (n.-43-7964T>C)
c.-98-32295T>C (n.-98-32295T>C)
n.170T>C
n.4412T>C
n.4453T>C
17g.43082485A>TCA10593173BRCA1c.4276T>A (p.Ser1426Thr)
c.4150T>A (p.Ser1384Thr)
c.4270T>A (p.Ser1424Thr)
c.4198T>A (p.Ser1400Thr)
c.964T>A (p.Ser322Thr)
c.826T>A (p.Ser276Thr)
c.3388T>A (p.Ser1130Thr)
c.4153T>A (p.Ser1385Thr)
c.4135T>A (p.Ser1379Thr)
c.841T>A (p.Ser281Thr)
c.886T>A (p.Ser296Thr)
c.597T>A
c.850T>A (p.Ser284Thr)
c.*4059T>A (n.*4059T>A)
c.570T>A
c.967T>A (p.Ser323Thr)
c.589T>A (p.Ser197Thr)
c.592T>A (p.Ser198Thr)
c.5-18534T>A (n.5-18534T>A)
c.-43-7964T>A (n.-43-7964T>A)
c.-98-32295T>A (n.-98-32295T>A)
n.170T>A
n.4412T>A
n.4453T>A
 dbSNP
17g.43082486delCA1139665595BRCA1c.4276del (p.Ser1426LeufsTer8)
c.4150del (p.Ser1384LeufsTer8)
c.4270del (p.Ser1424LeufsTer8)
c.4198del (p.Ser1400LeufsTer8)
c.964del (p.Ser322LeufsTer8)
c.826del (p.Ser276LeufsTer8)
c.3388del (p.Ser1130LeufsTer8)
c.4153del (p.Ser1385LeufsTer8)
c.4135del (p.Ser1379LeufsTer8)
c.841del (p.Ser281LeufsTer8)
c.886del (p.Ser296LeufsTer8)
c.597del
c.850del (p.Ser284LeufsTer8)
c.*4059del (n.*4059del)
c.570del
c.967del (p.Ser323LeufsTer8)
c.589del (p.Ser197LeufsTer8)
c.592del (p.Ser198LeufsTer8)
c.5-18534del (n.5-18534del)
c.-43-7964del (n.-43-7964del)
c.-98-32295del (n.-98-32295del)
n.170del
n.4412del
n.4453del
 ClinVar dbSNP
17g.43082486A>CCA500148394BRCA1c.4275T>G (p.Pro1425=)
c.4149T>G (p.Pro1383=)
c.4269T>G (p.Pro1423=)
c.4197T>G (p.Pro1399=)
c.963T>G (p.Pro321=)
c.825T>G (p.Pro275=)
c.3387T>G (p.Pro1129=)
c.4152T>G (p.Pro1384=)
c.4134T>G (p.Pro1378=)
c.840T>G (p.Pro280=)
c.885T>G (p.Pro295=)
c.596T>G
c.849T>G (p.Pro283=)
c.*4058T>G (n.*4058T>G)
c.569T>G
c.966T>G (p.Pro322=)
c.588T>G (p.Pro196=)
c.591T>G (p.Pro197=)
c.5-18535T>G (n.5-18535T>G)
c.-43-7965T>G (n.-43-7965T>G)
c.-98-32296T>G (n.-98-32296T>G)
n.169T>G
n.4411T>G
n.4452T>G
17g.43082486A>GCA500148395BRCA1c.4275T>C (p.Pro1425=)
c.4149T>C (p.Pro1383=)
c.4269T>C (p.Pro1423=)
c.4197T>C (p.Pro1399=)
c.963T>C (p.Pro321=)
c.825T>C (p.Pro275=)
c.3387T>C (p.Pro1129=)
c.4152T>C (p.Pro1384=)
c.4134T>C (p.Pro1378=)
c.840T>C (p.Pro280=)
c.885T>C (p.Pro295=)
c.596T>C
c.849T>C (p.Pro283=)
c.*4058T>C (n.*4058T>C)
c.569T>C
c.966T>C (p.Pro322=)
c.588T>C (p.Pro196=)
c.591T>C (p.Pro197=)
c.5-18535T>C (n.5-18535T>C)
c.-43-7965T>C (n.-43-7965T>C)
c.-98-32296T>C (n.-98-32296T>C)
n.169T>C
n.4411T>C
n.4452T>C
17g.43082486A>TCA500148396BRCA1c.4275T>A (p.Pro1425=)
c.4149T>A (p.Pro1383=)
c.4269T>A (p.Pro1423=)
c.4197T>A (p.Pro1399=)
c.963T>A (p.Pro321=)
c.825T>A (p.Pro275=)
c.3387T>A (p.Pro1129=)
c.4152T>A (p.Pro1384=)
c.4134T>A (p.Pro1378=)
c.840T>A (p.Pro280=)
c.885T>A (p.Pro295=)
c.596T>A
c.849T>A (p.Pro283=)
c.*4058T>A (n.*4058T>A)
c.569T>A
c.966T>A (p.Pro322=)
c.588T>A (p.Pro196=)
c.591T>A (p.Pro197=)
c.5-18535T>A (n.5-18535T>A)
c.-43-7965T>A (n.-43-7965T>A)
c.-98-32296T>A (n.-98-32296T>A)
n.169T>A
n.4411T>A
n.4452T>A
17g.43082487G>ACA10593174BRCA1c.4274C>T (p.Pro1425Leu)
c.4148C>T (p.Pro1383Leu)
c.4268C>T (p.Pro1423Leu)
c.4196C>T (p.Pro1399Leu)
c.962C>T (p.Pro321Leu)
c.824C>T (p.Pro275Leu)
c.3386C>T (p.Pro1129Leu)
c.4151C>T (p.Pro1384Leu)
c.4133C>T (p.Pro1378Leu)
c.839C>T (p.Pro280Leu)
c.884C>T (p.Pro295Leu)
c.595C>T
c.848C>T (p.Pro283Leu)
c.*4057C>T (n.*4057C>T)
c.568C>T
c.965C>T (p.Pro322Leu)
c.587C>T (p.Pro196Leu)
c.590C>T (p.Pro197Leu)
c.5-18536C>T (n.5-18536C>T)
c.-43-7966C>T (n.-43-7966C>T)
c.-98-32297C>T (n.-98-32297C>T)
n.168C>T
n.4410C>T
n.4451C>T
 ClinVar
17g.43082487G>CCA10593175BRCA1c.4274C>G (p.Pro1425Arg)
c.4148C>G (p.Pro1383Arg)
c.4268C>G (p.Pro1423Arg)
c.4196C>G (p.Pro1399Arg)
c.962C>G (p.Pro321Arg)
c.824C>G (p.Pro275Arg)
c.3386C>G (p.Pro1129Arg)
c.4151C>G (p.Pro1384Arg)
c.4133C>G (p.Pro1378Arg)
c.839C>G (p.Pro280Arg)
c.884C>G (p.Pro295Arg)
c.595C>G
c.848C>G (p.Pro283Arg)
c.*4057C>G (n.*4057C>G)
c.568C>G
c.965C>G (p.Pro322Arg)
c.587C>G (p.Pro196Arg)
c.590C>G (p.Pro197Arg)
c.5-18536C>G (n.5-18536C>G)
c.-43-7966C>G (n.-43-7966C>G)
c.-98-32297C>G (n.-98-32297C>G)
n.168C>G
n.4410C>G
n.4451C>G
 dbSNP
17g.43082487G>TCA10593176BRCA1c.4274C>A (p.Pro1425His)
c.4148C>A (p.Pro1383His)
c.4268C>A (p.Pro1423His)
c.4196C>A (p.Pro1399His)
c.962C>A (p.Pro321His)
c.824C>A (p.Pro275His)
c.3386C>A (p.Pro1129His)
c.4151C>A (p.Pro1384His)
c.4133C>A (p.Pro1378His)
c.839C>A (p.Pro280His)
c.884C>A (p.Pro295His)
c.595C>A
c.848C>A (p.Pro283His)
c.*4057C>A (n.*4057C>A)
c.568C>A
c.965C>A (p.Pro322His)
c.587C>A (p.Pro196His)
c.590C>A (p.Pro197His)
c.5-18536C>A (n.5-18536C>A)
c.-43-7966C>A (n.-43-7966C>A)
c.-98-32297C>A (n.-98-32297C>A)
n.168C>A
n.4410C>A
n.4451C>A
17g.43082488G>ACA059807BRCA1c.4273C>T (p.Pro1425Ser)
c.4147C>T (p.Pro1383Ser)
c.4267C>T (p.Pro1423Ser)
c.4195C>T (p.Pro1399Ser)
c.961C>T (p.Pro321Ser)
c.823C>T (p.Pro275Ser)
c.3385C>T (p.Pro1129Ser)
c.4150C>T (p.Pro1384Ser)
c.4132C>T (p.Pro1378Ser)
c.838C>T (p.Pro280Ser)
c.883C>T (p.Pro295Ser)
c.594C>T
c.847C>T (p.Pro283Ser)
c.*4056C>T (n.*4056C>T)
c.567C>T
c.964C>T (p.Pro322Ser)
c.586C>T (p.Pro196Ser)
c.589C>T (p.Pro197Ser)
c.5-18537C>T (n.5-18537C>T)
c.-43-7967C>T (n.-43-7967C>T)
c.-98-32298C>T (n.-98-32298C>T)
n.167C>T
n.4409C>T
n.4450C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43082488G>CCA10585915BRCA1c.4273C>G (p.Pro1425Ala)
c.4147C>G (p.Pro1383Ala)
c.4267C>G (p.Pro1423Ala)
c.4195C>G (p.Pro1399Ala)
c.961C>G (p.Pro321Ala)
c.823C>G (p.Pro275Ala)
c.3385C>G (p.Pro1129Ala)
c.4150C>G (p.Pro1384Ala)
c.4132C>G (p.Pro1378Ala)
c.838C>G (p.Pro280Ala)
c.883C>G (p.Pro295Ala)
c.594C>G
c.847C>G (p.Pro283Ala)
c.*4056C>G (n.*4056C>G)
c.567C>G
c.964C>G (p.Pro322Ala)
c.586C>G (p.Pro196Ala)
c.589C>G (p.Pro197Ala)
c.5-18537C>G (n.5-18537C>G)
c.-43-7967C>G (n.-43-7967C>G)
c.-98-32298C>G (n.-98-32298C>G)
n.167C>G
n.4409C>G
n.4450C>G
 ClinVar dbSNP
17g.43082488G=CA2260778014BRCA1c.4273C= (p.Pro1425=)
c.4147C= (p.Pro1383=)
c.4267C= (p.Pro1423=)
c.4195C= (p.Pro1399=)
c.961C= (p.Pro321=)
c.823C= (p.Pro275=)
c.3385C= (p.Pro1129=)
c.4150C= (p.Pro1384=)
c.4132C= (p.Pro1378=)
c.838C= (p.Pro280=)
c.883C= (p.Pro295=)
c.594C=
c.847C= (p.Pro283=)
c.*4056C= (n.*4056C=)
c.567C=
c.964C= (p.Pro322=)
c.586C= (p.Pro196=)
c.589C= (p.Pro197=)
c.5-18537C= (n.5-18537C=)
c.-43-7967C= (n.-43-7967C=)
c.-98-32298C= (n.-98-32298C=)
n.167C=
n.4409C=
n.4450C=
17g.43082488G>TCA10593177BRCA1c.4273C>A (p.Pro1425Thr)
c.4147C>A (p.Pro1383Thr)
c.4267C>A (p.Pro1423Thr)
c.4195C>A (p.Pro1399Thr)
c.961C>A (p.Pro321Thr)
c.823C>A (p.Pro275Thr)
c.3385C>A (p.Pro1129Thr)
c.4150C>A (p.Pro1384Thr)
c.4132C>A (p.Pro1378Thr)
c.838C>A (p.Pro280Thr)
c.883C>A (p.Pro295Thr)
c.594C>A
c.847C>A (p.Pro283Thr)
c.*4056C>A (n.*4056C>A)
c.567C>A
c.964C>A (p.Pro322Thr)
c.586C>A (p.Pro196Thr)
c.589C>A (p.Pro197Thr)
c.5-18537C>A (n.5-18537C>A)
c.-43-7967C>A (n.-43-7967C>A)
c.-98-32298C>A (n.-98-32298C>A)
n.167C>A
n.4409C>A
n.4450C>A
 dbSNP
17g.43082489C>ACA10593178BRCA1c.4272G>T (p.Gln1424His)
c.4146G>T (p.Gln1382His)
c.4266G>T (p.Gln1422His)
c.4194G>T (p.Gln1398His)
c.960G>T (p.Gln320His)
c.822G>T (p.Gln274His)
c.3384G>T (p.Gln1128His)
c.4149G>T (p.Gln1383His)
c.4131G>T (p.Gln1377His)
c.837G>T (p.Gln279His)
c.882G>T (p.Gln294His)
c.593G>T
c.846G>T (p.Gln282His)
c.*4055G>T (n.*4055G>T)
c.566G>T
c.963G>T (p.Gln321His)
c.585G>T (p.Gln195His)
c.588G>T (p.Gln196His)
c.5-18538G>T (n.5-18538G>T)
c.-43-7968G>T (n.-43-7968G>T)
c.-98-32299G>T (n.-98-32299G>T)
n.166G>T
n.4408G>T
n.4449G>T
 dbSNP
17g.43082489C=CA2260778015BRCA1c.4272G= (p.Gln1424=)
c.4146G= (p.Gln1382=)
c.4266G= (p.Gln1422=)
c.4194G= (p.Gln1398=)
c.960G= (p.Gln320=)
c.822G= (p.Gln274=)
c.3384G= (p.Gln1128=)
c.4149G= (p.Gln1383=)
c.4131G= (p.Gln1377=)
c.837G= (p.Gln279=)
c.882G= (p.Gln294=)
c.593G=
c.846G= (p.Gln282=)
c.*4055G= (n.*4055G=)
c.566G=
c.963G= (p.Gln321=)
c.585G= (p.Gln195=)
c.588G= (p.Gln196=)
c.5-18538G= (n.5-18538G=)
c.-43-7968G= (n.-43-7968G=)
c.-98-32299G= (n.-98-32299G=)
n.166G=
n.4408G=
n.4449G=
17g.43082489C>GCA002744BRCA1c.4272G>C (p.Gln1424His)
c.4146G>C (p.Gln1382His)
c.4266G>C (p.Gln1422His)
c.4194G>C (p.Gln1398His)
c.960G>C (p.Gln320His)
c.822G>C (p.Gln274His)
c.3384G>C (p.Gln1128His)
c.4149G>C (p.Gln1383His)
c.4131G>C (p.Gln1377His)
c.837G>C (p.Gln279His)
c.882G>C (p.Gln294His)
c.593G>C
c.846G>C (p.Gln282His)
c.*4055G>C (n.*4055G>C)
c.566G>C
c.963G>C (p.Gln321His)
c.585G>C (p.Gln195His)
c.588G>C (p.Gln196His)
c.5-18538G>C (n.5-18538G>C)
c.-43-7968G>C (n.-43-7968G>C)
c.-98-32299G>C (n.-98-32299G>C)
n.166G>C
n.4408G>C
n.4449G>C
 ClinVar dbSNP
17g.43082489C>TCA059801BRCA1c.4272G>A (p.Gln1424=)
c.4146G>A (p.Gln1382=)
c.4266G>A (p.Gln1422=)
c.4194G>A (p.Gln1398=)
c.960G>A (p.Gln320=)
c.822G>A (p.Gln274=)
c.3384G>A (p.Gln1128=)
c.4149G>A (p.Gln1383=)
c.4131G>A (p.Gln1377=)
c.837G>A (p.Gln279=)
c.882G>A (p.Gln294=)
c.593G>A
c.846G>A (p.Gln282=)
c.*4055G>A (n.*4055G>A)
c.566G>A
c.963G>A (p.Gln321=)
c.585G>A (p.Gln195=)
c.588G>A (p.Gln196=)
c.5-18538G>A (n.5-18538G>A)
c.-43-7968G>A (n.-43-7968G>A)
c.-98-32299G>A (n.-98-32299G>A)
n.166G>A
n.4408G>A
n.4449G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43082490T>ACA10593179BRCA1c.4271A>T (p.Gln1424Leu)
c.4145A>T (p.Gln1382Leu)
c.4265A>T (p.Gln1422Leu)
c.4193A>T (p.Gln1398Leu)
c.959A>T (p.Gln320Leu)
c.821A>T (p.Gln274Leu)
c.3383A>T (p.Gln1128Leu)
c.4148A>T (p.Gln1383Leu)
c.4130A>T (p.Gln1377Leu)
c.836A>T (p.Gln279Leu)
c.881A>T (p.Gln294Leu)
c.592A>T
c.845A>T (p.Gln282Leu)
c.*4054A>T (n.*4054A>T)
c.565A>T
c.962A>T (p.Gln321Leu)
c.584A>T (p.Gln195Leu)
c.587A>T (p.Gln196Leu)
c.5-18539A>T (n.5-18539A>T)
c.-43-7969A>T (n.-43-7969A>T)
c.-98-32300A>T (n.-98-32300A>T)
n.165A>T
n.4407A>T
n.4448A>T
 dbSNP
17g.43082490T>CCA10593180BRCA1c.4271A>G (p.Gln1424Arg)
c.4145A>G (p.Gln1382Arg)
c.4265A>G (p.Gln1422Arg)
c.4193A>G (p.Gln1398Arg)
c.959A>G (p.Gln320Arg)
c.821A>G (p.Gln274Arg)
c.3383A>G (p.Gln1128Arg)
c.4148A>G (p.Gln1383Arg)
c.4130A>G (p.Gln1377Arg)
c.836A>G (p.Gln279Arg)
c.881A>G (p.Gln294Arg)
c.592A>G
c.845A>G (p.Gln282Arg)
c.*4054A>G (n.*4054A>G)
c.565A>G
c.962A>G (p.Gln321Arg)
c.584A>G (p.Gln195Arg)
c.587A>G (p.Gln196Arg)
c.5-18539A>G (n.5-18539A>G)
c.-43-7969A>G (n.-43-7969A>G)
c.-98-32300A>G (n.-98-32300A>G)
n.165A>G
n.4407A>G
n.4448A>G
 ClinVar dbSNP
17g.43082490T>GCA10593181BRCA1c.4271A>C (p.Gln1424Pro)
c.4145A>C (p.Gln1382Pro)
c.4265A>C (p.Gln1422Pro)
c.4193A>C (p.Gln1398Pro)
c.959A>C (p.Gln320Pro)
c.821A>C (p.Gln274Pro)
c.3383A>C (p.Gln1128Pro)
c.4148A>C (p.Gln1383Pro)
c.4130A>C (p.Gln1377Pro)
c.836A>C (p.Gln279Pro)
c.881A>C (p.Gln294Pro)
c.592A>C
c.845A>C (p.Gln282Pro)
c.*4054A>C (n.*4054A>C)
c.565A>C
c.962A>C (p.Gln321Pro)
c.584A>C (p.Gln195Pro)
c.587A>C (p.Gln196Pro)
c.5-18539A>C (n.5-18539A>C)
c.-43-7969A>C (n.-43-7969A>C)
c.-98-32300A>C (n.-98-32300A>C)
n.165A>C
n.4407A>C
n.4448A>C
 gnomAD v4
17g.43082490T=CA2260778016BRCA1c.4271A= (p.Gln1424=)
c.4145A= (p.Gln1382=)
c.4265A= (p.Gln1422=)
c.4193A= (p.Gln1398=)
c.959A= (p.Gln320=)
c.821A= (p.Gln274=)
c.3383A= (p.Gln1128=)
c.4148A= (p.Gln1383=)
c.4130A= (p.Gln1377=)
c.836A= (p.Gln279=)
c.881A= (p.Gln294=)
c.592A=
c.845A= (p.Gln282=)
c.*4054A= (n.*4054A=)
c.565A=
c.962A= (p.Gln321=)
c.584A= (p.Gln195=)
c.587A= (p.Gln196=)
c.5-18539A= (n.5-18539A=)
c.-43-7969A= (n.-43-7969A=)
c.-98-32300A= (n.-98-32300A=)
n.165A=
n.4407A=
n.4448A=
17g.43082491G>ACA10589674BRCA1c.4270C>T (p.Gln1424Ter)
c.4144C>T (p.Gln1382Ter)
c.4264C>T (p.Gln1422Ter)
c.4192C>T (p.Gln1398Ter)
c.958C>T (p.Gln320Ter)
c.820C>T (p.Gln274Ter)
c.3382C>T (p.Gln1128Ter)
c.4147C>T (p.Gln1383Ter)
c.4129C>T (p.Gln1377Ter)
c.835C>T (p.Gln279Ter)
c.880C>T (p.Gln294Ter)
c.591C>T
c.844C>T (p.Gln282Ter)
c.*4053C>T (n.*4053C>T)
c.564C>T
c.961C>T (p.Gln321Ter)
c.583C>T (p.Gln195Ter)
c.586C>T (p.Gln196Ter)
c.5-18540C>T (n.5-18540C>T)
c.-43-7970C>T (n.-43-7970C>T)
c.-98-32301C>T (n.-98-32301C>T)
n.164C>T
n.4406C>T
n.4447C>T
 ClinVar dbSNP
17g.43082491G>CCA10593182BRCA1c.4270C>G (p.Gln1424Glu)
c.4144C>G (p.Gln1382Glu)
c.4264C>G (p.Gln1422Glu)
c.4192C>G (p.Gln1398Glu)
c.958C>G (p.Gln320Glu)
c.820C>G (p.Gln274Glu)
c.3382C>G (p.Gln1128Glu)
c.4147C>G (p.Gln1383Glu)
c.4129C>G (p.Gln1377Glu)
c.835C>G (p.Gln279Glu)
c.880C>G (p.Gln294Glu)
c.591C>G
c.844C>G (p.Gln282Glu)
c.*4053C>G (n.*4053C>G)
c.564C>G
c.961C>G (p.Gln321Glu)
c.583C>G (p.Gln195Glu)
c.586C>G (p.Gln196Glu)
c.5-18540C>G (n.5-18540C>G)
c.-43-7970C>G (n.-43-7970C>G)
c.-98-32301C>G (n.-98-32301C>G)
n.164C>G
n.4406C>G
n.4447C>G
 dbSNP
17g.43082491G=CA2260778017BRCA1c.4270C= (p.Gln1424=)
c.4144C= (p.Gln1382=)
c.4264C= (p.Gln1422=)
c.4192C= (p.Gln1398=)
c.958C= (p.Gln320=)
c.820C= (p.Gln274=)
c.3382C= (p.Gln1128=)
c.4147C= (p.Gln1383=)
c.4129C= (p.Gln1377=)
c.835C= (p.Gln279=)
c.880C= (p.Gln294=)
c.591C=
c.844C= (p.Gln282=)
c.*4053C= (n.*4053C=)
c.564C=
c.961C= (p.Gln321=)
c.583C= (p.Gln195=)
c.586C= (p.Gln196=)
c.5-18540C= (n.5-18540C=)
c.-43-7970C= (n.-43-7970C=)
c.-98-32301C= (n.-98-32301C=)
n.164C=
n.4406C=
n.4447C=
17g.43082491G>TCA10593183BRCA1c.4270C>A (p.Gln1424Lys)
c.4144C>A (p.Gln1382Lys)
c.4264C>A (p.Gln1422Lys)
c.4192C>A (p.Gln1398Lys)
c.958C>A (p.Gln320Lys)
c.820C>A (p.Gln274Lys)
c.3382C>A (p.Gln1128Lys)
c.4147C>A (p.Gln1383Lys)
c.4129C>A (p.Gln1377Lys)
c.835C>A (p.Gln279Lys)
c.880C>A (p.Gln294Lys)
c.591C>A
c.844C>A (p.Gln282Lys)
c.*4053C>A (n.*4053C>A)
c.564C>A
c.961C>A (p.Gln321Lys)
c.583C>A (p.Gln195Lys)
c.586C>A (p.Gln196Lys)
c.5-18540C>A (n.5-18540C>A)
c.-43-7970C>A (n.-43-7970C>A)
c.-98-32301C>A (n.-98-32301C>A)
n.164C>A
n.4406C>A
n.4447C>A
 dbSNP
17g.43082492G>ACA002742BRCA1c.4269C>T (p.Ser1423=)
c.4143C>T (p.Ser1381=)
c.4263C>T (p.Ser1421=)
c.4191C>T (p.Ser1397=)
c.957C>T (p.Ser319=)
c.819C>T (p.Ser273=)
c.3381C>T (p.Ser1127=)
c.4146C>T (p.Ser1382=)
c.4128C>T (p.Ser1376=)
c.834C>T (p.Ser278=)
c.879C>T (p.Ser293=)
c.590C>T
c.843C>T (p.Ser281=)
c.*4052C>T (n.*4052C>T)
c.563C>T
c.960C>T (p.Ser320=)
c.582C>T (p.Ser194=)
c.585C>T (p.Ser195=)
c.5-18541C>T (n.5-18541C>T)
c.-43-7971C>T (n.-43-7971C>T)
c.-98-32302C>T (n.-98-32302C>T)
n.163C>T
n.4405C>T
n.4446C>T
 ClinVar dbSNP
17g.43082492G>CCA10593184BRCA1c.4269C>G (p.Ser1423Arg)
c.4143C>G (p.Ser1381Arg)
c.4263C>G (p.Ser1421Arg)
c.4191C>G (p.Ser1397Arg)
c.957C>G (p.Ser319Arg)
c.819C>G (p.Ser273Arg)
c.3381C>G (p.Ser1127Arg)
c.4146C>G (p.Ser1382Arg)
c.4128C>G (p.Ser1376Arg)
c.834C>G (p.Ser278Arg)
c.879C>G (p.Ser293Arg)
c.590C>G
c.843C>G (p.Ser281Arg)
c.*4052C>G (n.*4052C>G)
c.563C>G
c.960C>G (p.Ser320Arg)
c.582C>G (p.Ser194Arg)
c.585C>G (p.Ser195Arg)
c.5-18541C>G (n.5-18541C>G)
c.-43-7971C>G (n.-43-7971C>G)
c.-98-32302C>G (n.-98-32302C>G)
n.163C>G
n.4405C>G
n.4446C>G
 dbSNP COSMIC
17g.43082492G=CA2260778018BRCA1c.4269C= (p.Ser1423=)
c.4143C= (p.Ser1381=)
c.4263C= (p.Ser1421=)
c.4191C= (p.Ser1397=)
c.957C= (p.Ser319=)
c.819C= (p.Ser273=)
c.3381C= (p.Ser1127=)
c.4146C= (p.Ser1382=)
c.4128C= (p.Ser1376=)
c.834C= (p.Ser278=)
c.879C= (p.Ser293=)
c.590C=
c.843C= (p.Ser281=)
c.*4052C= (n.*4052C=)
c.563C=
c.960C= (p.Ser320=)
c.582C= (p.Ser194=)
c.585C= (p.Ser195=)
c.5-18541C= (n.5-18541C=)
c.-43-7971C= (n.-43-7971C=)
c.-98-32302C= (n.-98-32302C=)
n.163C=
n.4405C=
n.4446C=
17g.43082492G>TCA10593185BRCA1c.4269C>A (p.Ser1423Arg)
c.4143C>A (p.Ser1381Arg)
c.4263C>A (p.Ser1421Arg)
c.4191C>A (p.Ser1397Arg)
c.957C>A (p.Ser319Arg)
c.819C>A (p.Ser273Arg)
c.3381C>A (p.Ser1127Arg)
c.4146C>A (p.Ser1382Arg)
c.4128C>A (p.Ser1376Arg)
c.834C>A (p.Ser278Arg)
c.879C>A (p.Ser293Arg)
c.590C>A
c.843C>A (p.Ser281Arg)
c.*4052C>A (n.*4052C>A)
c.563C>A
c.960C>A (p.Ser320Arg)
c.582C>A (p.Ser194Arg)
c.585C>A (p.Ser195Arg)
c.5-18541C>A (n.5-18541C>A)
c.-43-7971C>A (n.-43-7971C>A)
c.-98-32302C>A (n.-98-32302C>A)
n.163C>A
n.4405C>A
n.4446C>A
 dbSNP
17g.43082493C>ACA10580527BRCA1c.4268G>T (p.Ser1423Ile)
c.4142G>T (p.Ser1381Ile)
c.4262G>T (p.Ser1421Ile)
c.4190G>T (p.Ser1397Ile)
c.956G>T (p.Ser319Ile)
c.818G>T (p.Ser273Ile)
c.3380G>T (p.Ser1127Ile)
c.4145G>T (p.Ser1382Ile)
c.4127G>T (p.Ser1376Ile)
c.833G>T (p.Ser278Ile)
c.878G>T (p.Ser293Ile)
c.589G>T
c.842G>T (p.Ser281Ile)
c.*4051G>T (n.*4051G>T)
c.562G>T
c.959G>T (p.Ser320Ile)
c.581G>T (p.Ser194Ile)
c.584G>T (p.Ser195Ile)
c.5-18542G>T (n.5-18542G>T)
c.-43-7972G>T (n.-43-7972G>T)
c.-98-32303G>T (n.-98-32303G>T)
n.162G>T
n.4404G>T
n.4445G>T
 ClinVar dbSNP gnomAD v4
17g.43082493C=CA2260778019BRCA1c.4268G= (p.Ser1423=)
c.4142G= (p.Ser1381=)
c.4262G= (p.Ser1421=)
c.4190G= (p.Ser1397=)
c.956G= (p.Ser319=)
c.818G= (p.Ser273=)
c.3380G= (p.Ser1127=)
c.4145G= (p.Ser1382=)
c.4127G= (p.Ser1376=)
c.833G= (p.Ser278=)
c.878G= (p.Ser293=)
c.589G=
c.842G= (p.Ser281=)
c.*4051G= (n.*4051G=)
c.562G=
c.959G= (p.Ser320=)
c.581G= (p.Ser194=)
c.584G= (p.Ser195=)
c.5-18542G= (n.5-18542G=)
c.-43-7972G= (n.-43-7972G=)
c.-98-32303G= (n.-98-32303G=)
n.162G=
n.4404G=
n.4445G=
17g.43082493C>GCA10593186BRCA1c.4268G>C (p.Ser1423Thr)
c.4142G>C (p.Ser1381Thr)
c.4262G>C (p.Ser1421Thr)
c.4190G>C (p.Ser1397Thr)
c.956G>C (p.Ser319Thr)
c.818G>C (p.Ser273Thr)
c.3380G>C (p.Ser1127Thr)
c.4145G>C (p.Ser1382Thr)
c.4127G>C (p.Ser1376Thr)
c.833G>C (p.Ser278Thr)
c.878G>C (p.Ser293Thr)
c.589G>C
c.842G>C (p.Ser281Thr)
c.*4051G>C (n.*4051G>C)
c.562G>C
c.959G>C (p.Ser320Thr)
c.581G>C (p.Ser194Thr)
c.584G>C (p.Ser195Thr)
c.5-18542G>C (n.5-18542G>C)
c.-43-7972G>C (n.-43-7972G>C)
c.-98-32303G>C (n.-98-32303G>C)
n.162G>C
n.4404G>C
n.4445G>C
 dbSNP
17g.43082493C>TCA10593187BRCA1c.4268G>A (p.Ser1423Asn)
c.4142G>A (p.Ser1381Asn)
c.4262G>A (p.Ser1421Asn)
c.4190G>A (p.Ser1397Asn)
c.956G>A (p.Ser319Asn)
c.818G>A (p.Ser273Asn)
c.3380G>A (p.Ser1127Asn)
c.4145G>A (p.Ser1382Asn)
c.4127G>A (p.Ser1376Asn)
c.833G>A (p.Ser278Asn)
c.878G>A (p.Ser293Asn)
c.589G>A
c.842G>A (p.Ser281Asn)
c.*4051G>A (n.*4051G>A)
c.562G>A
c.959G>A (p.Ser320Asn)
c.581G>A (p.Ser194Asn)
c.584G>A (p.Ser195Asn)
c.5-18542G>A (n.5-18542G>A)
c.-43-7972G>A (n.-43-7972G>A)
c.-98-32303G>A (n.-98-32303G>A)
n.162G>A
n.4404G>A
n.4445G>A
 ClinVar dbSNP gnomAD v4
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
 ClinVar 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
 ClinVar
17g.43082503G>ACA002737BRCA1c.4258C>T (p.Gln1420Ter)
c.4132C>T (p.Gln1378Ter)
c.4252C>T (p.Gln1418Ter)
c.4180C>T (p.Gln1394Ter)
c.946C>T (p.Gln316Ter)
c.808C>T (p.Gln270Ter)
c.3370C>T (p.Gln1124Ter)
c.4135C>T (p.Gln1379Ter)
c.4117C>T (p.Gln1373Ter)
c.823C>T (p.Gln275Ter)
c.868C>T (p.Gln290Ter)
c.579C>T
c.832C>T (p.Gln278Ter)
c.*4041C>T (n.*4041C>T)
c.552C>T
c.949C>T (p.Gln317Ter)
c.571C>T (p.Gln191Ter)
c.574C>T (p.Gln192Ter)
c.5-18552C>T (n.5-18552C>T)
c.-43-7982C>T (n.-43-7982C>T)
c.-98-32313C>T (n.-98-32313C>T)
n.152C>T
n.4394C>T
n.4435C>T
 ClinVar dbSNP
17g.43082503G>CCA10580528BRCA1c.4258C>G (p.Gln1420Glu)
c.4132C>G (p.Gln1378Glu)
c.4252C>G (p.Gln1418Glu)
c.4180C>G (p.Gln1394Glu)
c.946C>G (p.Gln316Glu)
c.808C>G (p.Gln270Glu)
c.3370C>G (p.Gln1124Glu)
c.4135C>G (p.Gln1379Glu)
c.4117C>G (p.Gln1373Glu)
c.823C>G (p.Gln275Glu)
c.868C>G (p.Gln290Glu)
c.579C>G
c.832C>G (p.Gln278Glu)
c.*4041C>G (n.*4041C>G)
c.552C>G
c.949C>G (p.Gln317Glu)
c.571C>G (p.Gln191Glu)
c.574C>G (p.Gln192Glu)
c.5-18552C>G (n.5-18552C>G)
c.-43-7982C>G (n.-43-7982C>G)
c.-98-32313C>G (n.-98-32313C>G)
n.152C>G
n.4394C>G
n.4435C>G
 ClinVar dbSNP gnomAD v4
17g.43082503G=CA2260778028BRCA1c.4258C= (p.Gln1420=)
c.4132C= (p.Gln1378=)
c.4252C= (p.Gln1418=)
c.4180C= (p.Gln1394=)
c.946C= (p.Gln316=)
c.808C= (p.Gln270=)
c.3370C= (p.Gln1124=)
c.4135C= (p.Gln1379=)
c.4117C= (p.Gln1373=)
c.823C= (p.Gln275=)
c.868C= (p.Gln290=)
c.579C=
c.832C= (p.Gln278=)
c.*4041C= (n.*4041C=)
c.552C=
c.949C= (p.Gln317=)
c.571C= (p.Gln191=)
c.574C= (p.Gln192=)
c.5-18552C= (n.5-18552C=)
c.-43-7982C= (n.-43-7982C=)
c.-98-32313C= (n.-98-32313C=)
n.152C=
n.4394C=
n.4435C=
17g.43082503G>TCA10593206BRCA1c.4258C>A (p.Gln1420Lys)
c.4132C>A (p.Gln1378Lys)
c.4252C>A (p.Gln1418Lys)
c.4180C>A (p.Gln1394Lys)
c.946C>A (p.Gln316Lys)
c.808C>A (p.Gln270Lys)
c.3370C>A (p.Gln1124Lys)
c.4135C>A (p.Gln1379Lys)
c.4117C>A (p.Gln1373Lys)
c.823C>A (p.Gln275Lys)
c.868C>A (p.Gln290Lys)
c.579C>A
c.832C>A (p.Gln278Lys)
c.*4041C>A (n.*4041C>A)
c.552C>A
c.949C>A (p.Gln317Lys)
c.571C>A (p.Gln191Lys)
c.574C>A (p.Gln192Lys)
c.5-18552C>A (n.5-18552C>A)
c.-43-7982C>A (n.-43-7982C>A)
c.-98-32313C>A (n.-98-32313C>A)
n.152C>A
n.4394C>A
n.4435C>A
17g.43082504T>ACA10593207BRCA1c.4257A>T (p.Glu1419Asp)
c.4131A>T (p.Glu1377Asp)
c.4251A>T (p.Glu1417Asp)
c.4179A>T (p.Glu1393Asp)
c.945A>T (p.Glu315Asp)
c.807A>T (p.Glu269Asp)
c.3369A>T (p.Glu1123Asp)
c.4134A>T (p.Glu1378Asp)
c.4116A>T (p.Glu1372Asp)
c.822A>T (p.Glu274Asp)
c.867A>T (p.Glu289Asp)
c.578A>T
c.831A>T (p.Glu277Asp)
c.*4040A>T (n.*4040A>T)
c.551A>T
c.948A>T (p.Glu316Asp)
c.570A>T (p.Glu190Asp)
c.573A>T (p.Glu191Asp)
c.5-18553A>T (n.5-18553A>T)
c.-43-7983A>T (n.-43-7983A>T)
c.-98-32314A>T (n.-98-32314A>T)
n.151A>T
n.4393A>T
n.4434A>T
 dbSNP
17g.43082504T>CCA500148402BRCA1c.4257A>G (p.Glu1419=)
c.4131A>G (p.Glu1377=)
c.4251A>G (p.Glu1417=)
c.4179A>G (p.Glu1393=)
c.945A>G (p.Glu315=)
c.807A>G (p.Glu269=)
c.3369A>G (p.Glu1123=)
c.4134A>G (p.Glu1378=)
c.4116A>G (p.Glu1372=)
c.822A>G (p.Glu274=)
c.867A>G (p.Glu289=)
c.578A>G
c.831A>G (p.Glu277=)
c.*4040A>G (n.*4040A>G)
c.551A>G
c.948A>G (p.Glu316=)
c.570A>G (p.Glu190=)
c.573A>G (p.Glu191=)
c.5-18553A>G (n.5-18553A>G)
c.-43-7983A>G (n.-43-7983A>G)
c.-98-32314A>G (n.-98-32314A>G)
n.151A>G
n.4393A>G
n.4434A>G
 ClinVar dbSNP gnomAD v4
17g.43082504T>GCA10593208BRCA1c.4257A>C (p.Glu1419Asp)
c.4131A>C (p.Glu1377Asp)
c.4251A>C (p.Glu1417Asp)
c.4179A>C (p.Glu1393Asp)
c.945A>C (p.Glu315Asp)
c.807A>C (p.Glu269Asp)
c.3369A>C (p.Glu1123Asp)
c.4134A>C (p.Glu1378Asp)
c.4116A>C (p.Glu1372Asp)
c.822A>C (p.Glu274Asp)
c.867A>C (p.Glu289Asp)
c.578A>C
c.831A>C (p.Glu277Asp)
c.*4040A>C (n.*4040A>C)
c.551A>C
c.948A>C (p.Glu316Asp)
c.570A>C (p.Glu190Asp)
c.573A>C (p.Glu191Asp)
c.5-18553A>C (n.5-18553A>C)
c.-43-7983A>C (n.-43-7983A>C)
c.-98-32314A>C (n.-98-32314A>C)
n.151A>C
n.4393A>C
n.4434A>C
 dbSNP
17g.43082505T>ACA10593209BRCA1c.4256A>T (p.Glu1419Val)
c.4130A>T (p.Glu1377Val)
c.4250A>T (p.Glu1417Val)
c.4178A>T (p.Glu1393Val)
c.944A>T (p.Glu315Val)
c.806A>T (p.Glu269Val)
c.3368A>T (p.Glu1123Val)
c.4133A>T (p.Glu1378Val)
c.4115A>T (p.Glu1372Val)
c.821A>T (p.Glu274Val)
c.866A>T (p.Glu289Val)
c.577A>T
c.830A>T (p.Glu277Val)
c.*4039A>T (n.*4039A>T)
c.550A>T
c.947A>T (p.Glu316Val)
c.569A>T (p.Glu190Val)
c.572A>T (p.Glu191Val)
c.5-18554A>T (n.5-18554A>T)
c.-43-7984A>T (n.-43-7984A>T)
c.-98-32315A>T (n.-98-32315A>T)
n.150A>T
n.4392A>T
n.4433A>T
 dbSNP
17g.43082505T>CCA10593210BRCA1c.4256A>G (p.Glu1419Gly)
c.4130A>G (p.Glu1377Gly)
c.4250A>G (p.Glu1417Gly)
c.4178A>G (p.Glu1393Gly)
c.944A>G (p.Glu315Gly)
c.806A>G (p.Glu269Gly)
c.3368A>G (p.Glu1123Gly)
c.4133A>G (p.Glu1378Gly)
c.4115A>G (p.Glu1372Gly)
c.821A>G (p.Glu274Gly)
c.866A>G (p.Glu289Gly)
c.577A>G
c.830A>G (p.Glu277Gly)
c.*4039A>G (n.*4039A>G)
c.550A>G
c.947A>G (p.Glu316Gly)
c.569A>G (p.Glu190Gly)
c.572A>G (p.Glu191Gly)
c.5-18554A>G (n.5-18554A>G)
c.-43-7984A>G (n.-43-7984A>G)
c.-98-32315A>G (n.-98-32315A>G)
n.150A>G
n.4392A>G
n.4433A>G
17g.43082505T>GCA10593211BRCA1c.4256A>C (p.Glu1419Ala)
c.4130A>C (p.Glu1377Ala)
c.4250A>C (p.Glu1417Ala)
c.4178A>C (p.Glu1393Ala)
c.944A>C (p.Glu315Ala)
c.806A>C (p.Glu269Ala)
c.3368A>C (p.Glu1123Ala)
c.4133A>C (p.Glu1378Ala)
c.4115A>C (p.Glu1372Ala)
c.821A>C (p.Glu274Ala)
c.866A>C (p.Glu289Ala)
c.577A>C
c.830A>C (p.Glu277Ala)
c.*4039A>C (n.*4039A>C)
c.550A>C
c.947A>C (p.Glu316Ala)
c.569A>C (p.Glu190Ala)
c.572A>C (p.Glu191Ala)
c.5-18554A>C (n.5-18554A>C)
c.-43-7984A>C (n.-43-7984A>C)
c.-98-32315A>C (n.-98-32315A>C)
n.150A>C
n.4392A>C
n.4433A>C
17g.43082506C>ACA10589675BRCA1c.4255G>T (p.Glu1419Ter)
c.4129G>T (p.Glu1377Ter)
c.4249G>T (p.Glu1417Ter)
c.4177G>T (p.Glu1393Ter)
c.943G>T (p.Glu315Ter)
c.805G>T (p.Glu269Ter)
c.3367G>T (p.Glu1123Ter)
c.4132G>T (p.Glu1378Ter)
c.4114G>T (p.Glu1372Ter)
c.820G>T (p.Glu274Ter)
c.865G>T (p.Glu289Ter)
c.576G>T
c.829G>T (p.Glu277Ter)
c.*4038G>T (n.*4038G>T)
c.549G>T
c.946G>T (p.Glu316Ter)
c.568G>T (p.Glu190Ter)
c.571G>T (p.Glu191Ter)
c.5-18555G>T (n.5-18555G>T)
c.-43-7985G>T (n.-43-7985G>T)
c.-98-32316G>T (n.-98-32316G>T)
n.149G>T
n.4391G>T
n.4432G>T
 ClinVar dbSNP gnomAD v4
17g.43082506C=CA2260778029BRCA1c.4255G= (p.Glu1419=)
c.4129G= (p.Glu1377=)
c.4249G= (p.Glu1417=)
c.4177G= (p.Glu1393=)
c.943G= (p.Glu315=)
c.805G= (p.Glu269=)
c.3367G= (p.Glu1123=)
c.4132G= (p.Glu1378=)
c.4114G= (p.Glu1372=)
c.820G= (p.Glu274=)
c.865G= (p.Glu289=)
c.576G=
c.829G= (p.Glu277=)
c.*4038G= (n.*4038G=)
c.549G=
c.946G= (p.Glu316=)
c.568G= (p.Glu190=)
c.571G= (p.Glu191=)
c.5-18555G= (n.5-18555G=)
c.-43-7985G= (n.-43-7985G=)
c.-98-32316G= (n.-98-32316G=)
n.149G=
n.4391G=
n.4432G=
17g.43082506C>GCA002735BRCA1c.4255G>C (p.Glu1419Gln)
c.4129G>C (p.Glu1377Gln)
c.4249G>C (p.Glu1417Gln)
c.4177G>C (p.Glu1393Gln)
c.943G>C (p.Glu315Gln)
c.805G>C (p.Glu269Gln)
c.3367G>C (p.Glu1123Gln)
c.4132G>C (p.Glu1378Gln)
c.4114G>C (p.Glu1372Gln)
c.820G>C (p.Glu274Gln)
c.865G>C (p.Glu289Gln)
c.576G>C
c.829G>C (p.Glu277Gln)
c.*4038G>C (n.*4038G>C)
c.549G>C
c.946G>C (p.Glu316Gln)
c.568G>C (p.Glu190Gln)
c.571G>C (p.Glu191Gln)
c.5-18555G>C (n.5-18555G>C)
c.-43-7985G>C (n.-43-7985G>C)
c.-98-32316G>C (n.-98-32316G>C)
n.149G>C
n.4391G>C
n.4432G>C
 ClinVar dbSNP gnomAD v4
17g.43082506C>TCA10593212BRCA1c.4255G>A (p.Glu1419Lys)
c.4129G>A (p.Glu1377Lys)
c.4249G>A (p.Glu1417Lys)
c.4177G>A (p.Glu1393Lys)
c.943G>A (p.Glu315Lys)
c.805G>A (p.Glu269Lys)
c.3367G>A (p.Glu1123Lys)
c.4132G>A (p.Glu1378Lys)
c.4114G>A (p.Glu1372Lys)
c.820G>A (p.Glu274Lys)
c.865G>A (p.Glu289Lys)
c.576G>A
c.829G>A (p.Glu277Lys)
c.*4038G>A (n.*4038G>A)
c.549G>A
c.946G>A (p.Glu316Lys)
c.568G>A (p.Glu190Lys)
c.571G>A (p.Glu191Lys)
c.5-18555G>A (n.5-18555G>A)
c.-43-7985G>A (n.-43-7985G>A)
c.-98-32316G>A (n.-98-32316G>A)
n.149G>A
n.4391G>A
n.4432G>A
 dbSNP gnomAD v4
17g.43082507T>ACA10593213BRCA1c.4254A>T (p.Leu1418Phe)
c.4128A>T (p.Leu1376Phe)
c.4248A>T (p.Leu1416Phe)
c.4176A>T (p.Leu1392Phe)
c.942A>T (p.Leu314Phe)
c.804A>T (p.Leu268Phe)
c.3366A>T (p.Leu1122Phe)
c.4131A>T (p.Leu1377Phe)
c.4113A>T (p.Leu1371Phe)
c.819A>T (p.Leu273Phe)
c.864A>T (p.Leu288Phe)
c.575A>T
c.828A>T (p.Leu276Phe)
c.*4037A>T (n.*4037A>T)
c.548A>T
c.945A>T (p.Leu315Phe)
c.567A>T (p.Leu189Phe)
c.570A>T (p.Leu190Phe)
c.5-18556A>T (n.5-18556A>T)
c.-43-7986A>T (n.-43-7986A>T)
c.-98-32317A>T (n.-98-32317A>T)
n.148A>T
n.4390A>T
n.4431A>T
 ClinVar dbSNP
17g.43082507T>CCA500148403BRCA1c.4254A>G (p.Leu1418=)
c.4128A>G (p.Leu1376=)
c.4248A>G (p.Leu1416=)
c.4176A>G (p.Leu1392=)
c.942A>G (p.Leu314=)
c.804A>G (p.Leu268=)
c.3366A>G (p.Leu1122=)
c.4131A>G (p.Leu1377=)
c.4113A>G (p.Leu1371=)
c.819A>G (p.Leu273=)
c.864A>G (p.Leu288=)
c.575A>G
c.828A>G (p.Leu276=)
c.*4037A>G (n.*4037A>G)
c.548A>G
c.945A>G (p.Leu315=)
c.567A>G (p.Leu189=)
c.570A>G (p.Leu190=)
c.5-18556A>G (n.5-18556A>G)
c.-43-7986A>G (n.-43-7986A>G)
c.-98-32317A>G (n.-98-32317A>G)
n.148A>G
n.4390A>G
n.4431A>G
 gnomAD v4
17g.43082507T>GCA10593214BRCA1c.4254A>C (p.Leu1418Phe)
c.4128A>C (p.Leu1376Phe)
c.4248A>C (p.Leu1416Phe)
c.4176A>C (p.Leu1392Phe)
c.942A>C (p.Leu314Phe)
c.804A>C (p.Leu268Phe)
c.3366A>C (p.Leu1122Phe)
c.4131A>C (p.Leu1377Phe)
c.4113A>C (p.Leu1371Phe)
c.819A>C (p.Leu273Phe)
c.864A>C (p.Leu288Phe)
c.575A>C
c.828A>C (p.Leu276Phe)
c.*4037A>C (n.*4037A>C)
c.548A>C
c.945A>C (p.Leu315Phe)
c.567A>C (p.Leu189Phe)
c.570A>C (p.Leu190Phe)
c.5-18556A>C (n.5-18556A>C)
c.-43-7986A>C (n.-43-7986A>C)
c.-98-32317A>C (n.-98-32317A>C)
n.148A>C
n.4390A>C
n.4431A>C
17g.43082507T=CA2260778030BRCA1c.4254A= (p.Leu1418=)
c.4128A= (p.Leu1376=)
c.4248A= (p.Leu1416=)
c.4176A= (p.Leu1392=)
c.942A= (p.Leu314=)
c.804A= (p.Leu268=)
c.3366A= (p.Leu1122=)
c.4131A= (p.Leu1377=)
c.4113A= (p.Leu1371=)
c.819A= (p.Leu273=)
c.864A= (p.Leu288=)
c.575A=
c.828A= (p.Leu276=)
c.*4037A= (n.*4037A=)
c.548A=
c.945A= (p.Leu315=)
c.567A= (p.Leu189=)
c.570A= (p.Leu190=)
c.5-18556A= (n.5-18556A=)
c.-43-7986A= (n.-43-7986A=)
c.-98-32317A= (n.-98-32317A=)
n.148A=
n.4390A=
n.4431A=
17g.43082508A=CA2260778032BRCA1c.4253T= (p.Leu1418=)
c.4127T= (p.Leu1376=)
c.4247T= (p.Leu1416=)
c.4175T= (p.Leu1392=)
c.941T= (p.Leu314=)
c.803T= (p.Leu268=)
c.3365T= (p.Leu1122=)
c.4130T= (p.Leu1377=)
c.4112T= (p.Leu1371=)
c.818T= (p.Leu273=)
c.863T= (p.Leu288=)
c.574T=
c.827T= (p.Leu276=)
c.*4036T= (n.*4036T=)
c.547T=
c.944T= (p.Leu315=)
c.566T= (p.Leu189=)
c.569T= (p.Leu190=)
c.5-18557T= (n.5-18557T=)
c.-43-7987T= (n.-43-7987T=)
c.-98-32318T= (n.-98-32318T=)
n.147T=
n.4389T=
n.4430T=
17g.43082508A>CCA002733BRCA1c.4253T>G (p.Leu1418Ter)
c.4127T>G (p.Leu1376Ter)
c.4247T>G (p.Leu1416Ter)
c.4175T>G (p.Leu1392Ter)
c.941T>G (p.Leu314Ter)
c.803T>G (p.Leu268Ter)
c.3365T>G (p.Leu1122Ter)
c.4130T>G (p.Leu1377Ter)
c.4112T>G (p.Leu1371Ter)
c.818T>G (p.Leu273Ter)
c.863T>G (p.Leu288Ter)
c.574T>G
c.827T>G (p.Leu276Ter)
c.*4036T>G (n.*4036T>G)
c.547T>G
c.944T>G (p.Leu315Ter)
c.566T>G (p.Leu189Ter)
c.569T>G (p.Leu190Ter)
c.5-18557T>G (n.5-18557T>G)
c.-43-7987T>G (n.-43-7987T>G)
c.-98-32318T>G (n.-98-32318T>G)
n.147T>G
n.4389T>G
n.4430T>G
 ClinVar dbSNP
17g.43082508A>GCA10584555BRCA1c.4253T>C (p.Leu1418Ser)
c.4127T>C (p.Leu1376Ser)
c.4247T>C (p.Leu1416Ser)
c.4175T>C (p.Leu1392Ser)
c.941T>C (p.Leu314Ser)
c.803T>C (p.Leu268Ser)
c.3365T>C (p.Leu1122Ser)
c.4130T>C (p.Leu1377Ser)
c.4112T>C (p.Leu1371Ser)
c.818T>C (p.Leu273Ser)
c.863T>C (p.Leu288Ser)
c.574T>C
c.827T>C (p.Leu276Ser)
c.*4036T>C (n.*4036T>C)
c.547T>C
c.944T>C (p.Leu315Ser)
c.566T>C (p.Leu189Ser)
c.569T>C (p.Leu190Ser)
c.5-18557T>C (n.5-18557T>C)
c.-43-7987T>C (n.-43-7987T>C)
c.-98-32318T>C (n.-98-32318T>C)
n.147T>C
n.4389T>C
n.4430T>C
 ClinVar dbSNP gnomAD v4
17g.43082508A>TCA10593215BRCA1c.4253T>A (p.Leu1418Ter)
c.4127T>A (p.Leu1376Ter)
c.4247T>A (p.Leu1416Ter)
c.4175T>A (p.Leu1392Ter)
c.941T>A (p.Leu314Ter)
c.803T>A (p.Leu268Ter)
c.3365T>A (p.Leu1122Ter)
c.4130T>A (p.Leu1377Ter)
c.4112T>A (p.Leu1371Ter)
c.818T>A (p.Leu273Ter)
c.863T>A (p.Leu288Ter)
c.574T>A
c.827T>A (p.Leu276Ter)
c.*4036T>A (n.*4036T>A)
c.547T>A
c.944T>A (p.Leu315Ter)
c.566T>A (p.Leu189Ter)
c.569T>A (p.Leu190Ter)
c.5-18557T>A (n.5-18557T>A)
c.-43-7987T>A (n.-43-7987T>A)
c.-98-32318T>A (n.-98-32318T>A)
n.147T>A
n.4389T>A
n.4430T>A
17g.43082509dupCA2580093808BRCA1c.4253dup (p.Leu1418PhefsTer10)
c.4127dup (p.Leu1376PhefsTer10)
c.4247dup (p.Leu1416PhefsTer10)
c.4175dup (p.Leu1392PhefsTer10)
c.941dup (p.Leu314PhefsTer10)
c.803dup (p.Leu268PhefsTer10)
c.3365dup (p.Leu1122PhefsTer10)
c.4130dup (p.Leu1377PhefsTer10)
c.4112dup (p.Leu1371PhefsTer10)
c.818dup (p.Leu273PhefsTer10)
c.863dup (p.Leu288PhefsTer10)
c.574dup
c.827dup (p.Leu276PhefsTer10)
c.*4036dup (n.*4036dup)
c.547dup
c.944dup (p.Leu315PhefsTer10)
c.566dup (p.Leu189PhefsTer10)
c.569dup (p.Leu190PhefsTer10)
c.5-18557dup (n.5-18557dup)
c.-43-7987dup (n.-43-7987dup)
c.-98-32318dup (n.-98-32318dup)
n.147dup
n.4389dup
n.4430dup
 ClinVar
17g.43082509delCA2499224426BRCA1c.4253del (p.Leu1418Ter)
c.4127del (p.Leu1376Ter)
c.4247del (p.Leu1416Ter)
c.4175del (p.Leu1392Ter)
c.941del (p.Leu314Ter)
c.803del (p.Leu268Ter)
c.3365del (p.Leu1122Ter)
c.4130del (p.Leu1377Ter)
c.4112del (p.Leu1371Ter)
c.818del (p.Leu273Ter)
c.863del (p.Leu288Ter)
c.574del
c.827del (p.Leu276Ter)
c.*4036del (n.*4036del)
c.547del
c.944del (p.Leu315Ter)
c.566del (p.Leu189Ter)
c.569del (p.Leu190Ter)
c.5-18557del (n.5-18557del)
c.-43-7987del (n.-43-7987del)
c.-98-32318del (n.-98-32318del)
n.147del
n.4389del
n.4430del
 ClinVar dbSNP
17g.43082508_43082510delinsAACCA2260778031BRCA1c.4251_4253delinsGTT (p.Val1417=)
c.4125_4127delinsGTT (p.Val1375=)
c.4245_4247delinsGTT (p.Val1415=)
c.4173_4175delinsGTT (p.Val1391=)
c.939_941delinsGTT (p.Val313=)
c.801_803delinsGTT (p.Val267=)
c.3363_3365delinsGTT (p.Val1121=)
c.4128_4130delinsGTT (p.Val1376=)
c.4110_4112delinsGTT (p.Val1370=)
c.816_818delinsGTT (p.Val272=)
c.861_863delinsGTT (p.Val287=)
c.572_574delinsGTT
c.825_827delinsGTT (p.Val275=)
c.*4034_*4036delinsGTT (n.*4034_*4036delinsGTT)
c.545_547delinsGTT
c.942_944delinsGTT (p.Val314=)
c.564_566delinsGTT (p.Val188=)
c.567_569delinsGTT (p.Val189=)
c.5-18559_5-18557delinsGTT (n.5-18559_5-18557delinsGTT)
c.-43-7989_-43-7987delinsGTT (n.-43-7989_-43-7987delinsGTT)
c.-98-32320_-98-32318delinsGTT (n.-98-32320_-98-32318delinsGTT)
n.145_147delinsGTT
n.4387_4389delinsGTT
n.4428_4430delinsGTT
17g.43082509A>CCA10593216BRCA1c.4252T>G (p.Leu1418Val)
c.4126T>G (p.Leu1376Val)
c.4246T>G (p.Leu1416Val)
c.4174T>G (p.Leu1392Val)
c.940T>G (p.Leu314Val)
c.802T>G (p.Leu268Val)
c.3364T>G (p.Leu1122Val)
c.4129T>G (p.Leu1377Val)
c.4111T>G (p.Leu1371Val)
c.817T>G (p.Leu273Val)
c.862T>G (p.Leu288Val)
c.573T>G
c.826T>G (p.Leu276Val)
c.*4035T>G (n.*4035T>G)
c.546T>G
c.943T>G (p.Leu315Val)
c.565T>G (p.Leu189Val)
c.568T>G (p.Leu190Val)
c.5-18558T>G (n.5-18558T>G)
c.-43-7988T>G (n.-43-7988T>G)
c.-98-32319T>G (n.-98-32319T>G)
n.146T>G
n.4388T>G
n.4429T>G
 dbSNP
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

Number of alleles fetched