Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084851_43094146delCA645369660BRCA1c.1384_4186-2277del
c.1243_4045-2277del
c.787+597_877-2277del
n.1520_4322-2277del
n.1561_4363-2277del
c.670+1699_760-2277del
c.*1167_*3969-2277del
c.784+597_874-2277del
n.409+597_499-2277del
n.412+597_502-2277del
c.646+597_736-2277del
c.5-30196_5-20901del (p.=)
c.-43-19626_-43-10331del (p.=)
c.-99+31124_-98-34662del (p.=)
ClinVar
17g.43091560_43092541dupCA1139665610BRCA1c.2990_3971dup (p.Met1324IlefsTer8)
c.2849_3830dup (p.Met1277IlefsTer8)
c.788-1509_788-528dup (p.=)
n.3126_4107dup
n.3167_4148dup
c.671-1509_671-528dup (p.=)
c.*2773_*3754dup (p.=)
c.785-1509_785-528dup (p.=)
n.410-1509_410-528dup (p.=)
n.413-1509_413-528dup (p.=)
c.647-1509_647-528dup (p.=)
c.5-28590_5-27609dup (p.=)
c.-43-18020_-43-17039dup (p.=)
c.-99+32730_-99+33711dup (p.=)
ClinVar
17g.43091762_43091780delCA913190411BRCA1c.3749_3767del (p.Cys1251ArgfsTer7)
c.3608_3626del (p.Cys1204ArgfsTer7)
c.788-750_788-732del (p.=)
n.3885_3903del
n.3926_3944del
c.671-750_671-732del (p.=)
c.*3532_*3550del (p.=)
n.43_61del
c.785-750_785-732del (p.=)
n.410-750_410-732del (p.=)
n.413-750_413-732del (p.=)
c.647-750_647-732del (p.=)
c.5-27831_5-27813del (p.=)
c.-43-17261_-43-17243del (p.=)
c.-99+33489_-99+33507del (p.=)
ClinVar dbSNP
17g.43091771_43091775delCA10589725BRCA1c.3756_3760del (p.Ser1253GlufsTer12)
c.3615_3619del (p.Ser1206GlufsTer12)
c.788-743_788-739del (p.=)
n.3892_3896del
n.3933_3937del
c.671-743_671-739del (p.=)
c.*3539_*3543del (p.=)
n.50_54del
c.785-743_785-739del (p.=)
n.410-743_410-739del (p.=)
n.413-743_413-739del (p.=)
c.647-743_647-739del (p.=)
c.5-27824_5-27820del (p.=)
c.-43-17254_-43-17250del (p.=)
c.-99+33496_-99+33500del (p.=)
ClinVar dbSNP
17g.43091772_43091773delCA658761215BRCA1c.3757_3758del (p.Ser1253Ter)
c.3616_3617del (p.Ser1206Ter)
c.788-742_788-741del (p.=)
n.3893_3894del
n.3934_3935del
c.671-742_671-741del (p.=)
c.*3540_*3541del (p.=)
n.51_52del
c.785-742_785-741del (p.=)
n.410-742_410-741del (p.=)
n.413-742_413-741del (p.=)
c.647-742_647-741del (p.=)
c.5-27823_5-27822del (p.=)
c.-43-17253_-43-17252del (p.=)
c.-99+33497_-99+33498del (p.=)
ClinVar dbSNP
17g.43091772_43091775delCA002407BRCA1c.3751_3754del (p.Ser1253ArgfsTer10)
c.3610_3613del (p.Ser1206ArgfsTer10)
c.788-748_788-745del (p.=)
n.3887_3890del
n.3928_3931del
c.671-748_671-745del (p.=)
c.*3534_*3537del (p.=)
n.45_48del
c.785-748_785-745del (p.=)
n.410-748_410-745del (p.=)
n.413-748_413-745del (p.=)
c.647-748_647-745del (p.=)
c.5-27829_5-27826del (p.=)
c.-43-17259_-43-17256del (p.=)
c.-99+33491_-99+33494del (p.=)
ClinVar dbSNP dbSNP ExAC gnomAD
17g.43091774A>CCA10594458BRCA1c.3757T>G (p.Ser1253Ala)
c.3616T>G (p.Ser1206Ala)
c.788-742T>G (p.=)
n.3893T>G
n.3934T>G
c.671-742T>G (p.=)
c.*3540T>G (p.=)
n.51T>G
c.785-742T>G (p.=)
n.410-742T>G (p.=)
n.413-742T>G (p.=)
c.647-742T>G (p.=)
c.5-27823T>G (p.=)
c.-43-17253T>G (p.=)
c.-99+33497T>G (p.=)
17g.43091774A>GCA10594459BRCA1c.3757T>C (p.Ser1253Pro)
c.3616T>C (p.Ser1206Pro)
c.788-742T>C (p.=)
n.3893T>C
n.3934T>C
c.671-742T>C (p.=)
c.*3540T>C (p.=)
n.51T>C
c.785-742T>C (p.=)
n.410-742T>C (p.=)
n.413-742T>C (p.=)
c.647-742T>C (p.=)
c.5-27823T>C (p.=)
c.-43-17253T>C (p.=)
c.-99+33497T>C (p.=)
17g.43091774A>TCA10594460BRCA1c.3757T>A (p.Ser1253Thr)
c.3616T>A (p.Ser1206Thr)
c.788-742T>A (p.=)
n.3893T>A
n.3934T>A
c.671-742T>A (p.=)
c.*3540T>A (p.=)
n.51T>A
c.785-742T>A (p.=)
n.410-742T>A (p.=)
n.413-742T>A (p.=)
c.647-742T>A (p.=)
c.5-27823T>A (p.=)
c.-43-17253T>A (p.=)
c.-99+33497T>A (p.=)
17g.43091774_43091775delCA002406BRCA1c.3755_3756del (p.Ser1253Ter)
c.3614_3615del (p.Ser1206Ter)
c.788-744_788-743del (p.=)
n.3891_3892del
n.3932_3933del
c.671-744_671-743del (p.=)
c.*3538_*3539del (p.=)
n.49_50del
c.785-744_785-743del (p.=)
n.410-744_410-743del (p.=)
n.413-744_413-743del (p.=)
c.647-744_647-743del (p.=)
c.5-27825_5-27824del (p.=)
c.-43-17255_-43-17254del (p.=)
c.-99+33495_-99+33496del (p.=)
ClinVar dbSNP
17g.43091775C>ACA500232230BRCA1c.3756G>T (p.Leu1252=)
c.3615G>T (p.Leu1205=)
c.788-743G>T (p.=)
n.3892G>T
n.3933G>T
c.671-743G>T (p.=)
c.*3539G>T (p.=)
n.50G>T
c.785-743G>T (p.=)
n.410-743G>T (p.=)
n.413-743G>T (p.=)
c.647-743G>T (p.=)
c.5-27824G>T (p.=)
c.-43-17254G>T (p.=)
c.-99+33496G>T (p.=)
17g.43091775C>GCA059211BRCA1c.3756G>C (p.Leu1252=)
c.3615G>C (p.Leu1205=)
c.788-743G>C (p.=)
n.3892G>C
n.3933G>C
c.671-743G>C (p.=)
c.*3539G>C (p.=)
n.50G>C
c.785-743G>C (p.=)
n.410-743G>C (p.=)
n.413-743G>C (p.=)
c.647-743G>C (p.=)
c.5-27824G>C (p.=)
c.-43-17254G>C (p.=)
c.-99+33496G>C (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091775C>TCA16615387BRCA1c.3756G>A (p.Leu1252=)
c.3615G>A (p.Leu1205=)
c.788-743G>A (p.=)
n.3892G>A
n.3933G>A
c.671-743G>A (p.=)
c.*3539G>A (p.=)
n.50G>A
c.785-743G>A (p.=)
n.410-743G>A (p.=)
n.413-743G>A (p.=)
c.647-743G>A (p.=)
c.5-27824G>A (p.=)
c.-43-17254G>A (p.=)
c.-99+33496G>A (p.=)
ClinVar
17g.43091776A>CCA10594461BRCA1c.3755T>G (p.Leu1252Arg)
c.3614T>G (p.Leu1205Arg)
c.788-744T>G (p.=)
n.3891T>G
n.3932T>G
c.671-744T>G (p.=)
c.*3538T>G (p.=)
n.49T>G
c.785-744T>G (p.=)
n.410-744T>G (p.=)
n.413-744T>G (p.=)
c.647-744T>G (p.=)
c.5-27825T>G (p.=)
c.-43-17255T>G (p.=)
c.-99+33495T>G (p.=)
17g.43091776A>GCA10594462BRCA1c.3755T>C (p.Leu1252Pro)
c.3614T>C (p.Leu1205Pro)
c.788-744T>C (p.=)
n.3891T>C
n.3932T>C
c.671-744T>C (p.=)
c.*3538T>C (p.=)
n.49T>C
c.785-744T>C (p.=)
n.410-744T>C (p.=)
n.413-744T>C (p.=)
c.647-744T>C (p.=)
c.5-27825T>C (p.=)
c.-43-17255T>C (p.=)
c.-99+33495T>C (p.=)
ClinVar
17g.43091776A>TCA10594463BRCA1c.3755T>A (p.Leu1252Gln)
c.3614T>A (p.Leu1205Gln)
c.788-744T>A (p.=)
n.3891T>A
n.3932T>A
c.671-744T>A (p.=)
c.*3538T>A (p.=)
n.49T>A
c.785-744T>A (p.=)
n.410-744T>A (p.=)
n.413-744T>A (p.=)
c.647-744T>A (p.=)
c.5-27825T>A (p.=)
c.-43-17255T>A (p.=)
c.-99+33495T>A (p.=)
COSMIC COSMIC
17g.43091776_43091777delCA645373174BRCA1c.3753_3754del (p.Leu1252ValfsTer2)
c.3612_3613del (p.Leu1205ValfsTer2)
c.788-746_788-745del (p.=)
n.3889_3890del
n.3930_3931del
c.671-746_671-745del (p.=)
c.*3536_*3537del (p.=)
n.47_48del
c.785-746_785-745del (p.=)
n.410-746_410-745del (p.=)
n.413-746_413-745del (p.=)
c.647-746_647-745del (p.=)
c.5-27827_5-27826del (p.=)
c.-43-17257_-43-17256del (p.=)
c.-99+33493_-99+33494del (p.=)
ClinVar dbSNP
17g.43091777G>ACA290834549BRCA1c.3754C>T (p.Leu1252=)
c.3613C>T (p.Leu1205=)
c.788-745C>T (p.=)
n.3890C>T
n.3931C>T
c.671-745C>T (p.=)
c.*3537C>T (p.=)
n.48C>T
c.785-745C>T (p.=)
n.410-745C>T (p.=)
n.413-745C>T (p.=)
c.647-745C>T (p.=)
c.5-27826C>T (p.=)
c.-43-17256C>T (p.=)
c.-99+33494C>T (p.=)
dbSNP
17g.43091777G>CCA10594464BRCA1c.3754C>G (p.Leu1252Val)
c.3613C>G (p.Leu1205Val)
c.788-745C>G (p.=)
n.3890C>G
n.3931C>G
c.671-745C>G (p.=)
c.*3537C>G (p.=)
n.48C>G
c.785-745C>G (p.=)
n.410-745C>G (p.=)
n.413-745C>G (p.=)
c.647-745C>G (p.=)
c.5-27826C>G (p.=)
c.-43-17256C>G (p.=)
c.-99+33494C>G (p.=)
17g.43091777G>TCA10594465BRCA1c.3754C>A (p.Leu1252Met)
c.3613C>A (p.Leu1205Met)
c.788-745C>A (p.=)
n.3890C>A
n.3931C>A
c.671-745C>A (p.=)
c.*3537C>A (p.=)
n.48C>A
c.785-745C>A (p.=)
n.410-745C>A (p.=)
n.413-745C>A (p.=)
c.647-745C>A (p.=)
c.5-27826C>A (p.=)
c.-43-17256C>A (p.=)
c.-99+33494C>A (p.=)
17g.43091778A>CCA10594466BRCA1c.3753T>G (p.Cys1251Trp)
c.3612T>G (p.Cys1204Trp)
c.788-746T>G (p.=)
n.3889T>G
n.3930T>G
c.671-746T>G (p.=)
c.*3536T>G (p.=)
n.47T>G
c.785-746T>G (p.=)
n.410-746T>G (p.=)
n.413-746T>G (p.=)
c.647-746T>G (p.=)
c.5-27827T>G (p.=)
c.-43-17257T>G (p.=)
c.-99+33493T>G (p.=)
ClinVar
17g.43091778A>GCA500232232BRCA1c.3753T>C (p.Cys1251=)
c.3612T>C (p.Cys1204=)
c.788-746T>C (p.=)
n.3889T>C
n.3930T>C
c.671-746T>C (p.=)
c.*3536T>C (p.=)
n.47T>C
c.785-746T>C (p.=)
n.410-746T>C (p.=)
n.413-746T>C (p.=)
c.647-746T>C (p.=)
c.5-27827T>C (p.=)
c.-43-17257T>C (p.=)
c.-99+33493T>C (p.=)
17g.43091778A>TCA002405BRCA1c.3753T>A (p.Cys1251Ter)
c.3612T>A (p.Cys1204Ter)
c.788-746T>A (p.=)
n.3889T>A
n.3930T>A
c.671-746T>A (p.=)
c.*3536T>A (p.=)
n.47T>A
c.785-746T>A (p.=)
n.410-746T>A (p.=)
n.413-746T>A (p.=)
c.647-746T>A (p.=)
c.5-27827T>A (p.=)
c.-43-17257T>A (p.=)
c.-99+33493T>A (p.=)
ClinVar dbSNP
17g.43091779C>ACA10594467BRCA1c.3752G>T (p.Cys1251Phe)
c.3611G>T (p.Cys1204Phe)
c.788-747G>T (p.=)
n.3888G>T
n.3929G>T
c.671-747G>T (p.=)
c.*3535G>T (p.=)
n.46G>T
c.785-747G>T (p.=)
n.410-747G>T (p.=)
n.413-747G>T (p.=)
c.647-747G>T (p.=)
c.5-27828G>T (p.=)
c.-43-17258G>T (p.=)
c.-99+33492G>T (p.=)
17g.43091779C>GCA10594468BRCA1c.3752G>C (p.Cys1251Ser)
c.3611G>C (p.Cys1204Ser)
c.788-747G>C (p.=)
n.3888G>C
n.3929G>C
c.671-747G>C (p.=)
c.*3535G>C (p.=)
n.46G>C
c.785-747G>C (p.=)
n.410-747G>C (p.=)
n.413-747G>C (p.=)
c.647-747G>C (p.=)
c.5-27828G>C (p.=)
c.-43-17258G>C (p.=)
c.-99+33492G>C (p.=)
17g.43091779C>TCA10584559BRCA1c.3752G>A (p.Cys1251Tyr)
c.3611G>A (p.Cys1204Tyr)
c.788-747G>A (p.=)
n.3888G>A
n.3929G>A
c.671-747G>A (p.=)
c.*3535G>A (p.=)
n.46G>A
c.785-747G>A (p.=)
n.410-747G>A (p.=)
n.413-747G>A (p.=)
c.647-747G>A (p.=)
c.5-27828G>A (p.=)
c.-43-17258G>A (p.=)
c.-99+33492G>A (p.=)
ClinVar dbSNP
17g.43091779_43091782delCA1139665614BRCA1c.3748_3751del (p.Glu1250ValfsTer13)
c.3607_3610del (p.Glu1203ValfsTer13)
c.788-751_788-748del (p.=)
n.3884_3887del
n.3925_3928del
c.671-751_671-748del (p.=)
c.*3531_*3534del (p.=)
n.42_45del
c.785-751_785-748del (p.=)
n.410-751_410-748del (p.=)
n.413-751_413-748del (p.=)
c.647-751_647-748del (p.=)
c.5-27832_5-27829del (p.=)
c.-43-17262_-43-17259del (p.=)
c.-99+33488_-99+33491del (p.=)
ClinVar
17g.43091780A>CCA10594469BRCA1c.3751T>G (p.Cys1251Gly)
c.3610T>G (p.Cys1204Gly)
c.788-748T>G (p.=)
n.3887T>G
n.3928T>G
c.671-748T>G (p.=)
c.*3534T>G (p.=)
n.45T>G
c.785-748T>G (p.=)
n.410-748T>G (p.=)
n.413-748T>G (p.=)
c.647-748T>G (p.=)
c.5-27829T>G (p.=)
c.-43-17259T>G (p.=)
c.-99+33491T>G (p.=)
17g.43091780A>GCA059212BRCA1c.3751T>C (p.Cys1251Arg)
c.3610T>C (p.Cys1204Arg)
c.788-748T>C (p.=)
n.3887T>C
n.3928T>C
c.671-748T>C (p.=)
c.*3534T>C (p.=)
n.45T>C
c.785-748T>C (p.=)
n.410-748T>C (p.=)
n.413-748T>C (p.=)
c.647-748T>C (p.=)
c.5-27829T>C (p.=)
c.-43-17259T>C (p.=)
c.-99+33491T>C (p.=)
dbSNP ExAC gnomAD
17g.43091780A>TCA10594470BRCA1c.3751T>A (p.Cys1251Ser)
c.3610T>A (p.Cys1204Ser)
c.788-748T>A (p.=)
n.3887T>A
n.3928T>A
c.671-748T>A (p.=)
c.*3534T>A (p.=)
n.45T>A
c.785-748T>A (p.=)
n.410-748T>A (p.=)
n.413-748T>A (p.=)
c.647-748T>A (p.=)
c.5-27829T>A (p.=)
c.-43-17259T>A (p.=)
c.-99+33491T>A (p.=)
17g.43091780dupCA658761216BRCA1c.3751dup (p.Cys1251LeufsTer4)
c.3610dup (p.Cys1204LeufsTer4)
c.788-748dup (p.=)
n.3887dup
n.3928dup
c.671-748dup (p.=)
c.*3534dup (p.=)
n.45dup
c.785-748dup (p.=)
n.410-748dup (p.=)
n.413-748dup (p.=)
c.647-748dup (p.=)
c.5-27829dup (p.=)
c.-43-17259dup (p.=)
c.-99+33491dup (p.=)
17g.43091781delCA10589726BRCA1c.3750del (p.Glu1250AspfsTer14)
c.3609del (p.Glu1203AspfsTer14)
c.788-749del (p.=)
n.3886del
n.3927del
c.671-749del (p.=)
c.*3533del (p.=)
n.44del
c.785-749del (p.=)
n.410-749del (p.=)
n.413-749del (p.=)
c.647-749del (p.=)
c.5-27830del (p.=)
c.-43-17260del (p.=)
c.-99+33490del (p.=)
ClinVar dbSNP
17g.43091781C>ACA10594471BRCA1c.3750G>T (p.Glu1250Asp)
c.3609G>T (p.Glu1203Asp)
c.788-749G>T (p.=)
n.3886G>T
n.3927G>T
c.671-749G>T (p.=)
c.*3533G>T (p.=)
n.44G>T
c.785-749G>T (p.=)
n.410-749G>T (p.=)
n.413-749G>T (p.=)
c.647-749G>T (p.=)
c.5-27830G>T (p.=)
c.-43-17260G>T (p.=)
c.-99+33490G>T (p.=)
ClinVar
17g.43091781C>GCA002403BRCA1c.3750G>C (p.Glu1250Asp)
c.3609G>C (p.Glu1203Asp)
c.788-749G>C (p.=)
n.3886G>C
n.3927G>C
c.671-749G>C (p.=)
c.*3533G>C (p.=)
n.44G>C
c.785-749G>C (p.=)
n.410-749G>C (p.=)
n.413-749G>C (p.=)
c.647-749G>C (p.=)
c.5-27830G>C (p.=)
c.-43-17260G>C (p.=)
c.-99+33490G>C (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091781C>TCA10580551BRCA1c.3750G>A (p.Glu1250=)
c.3609G>A (p.Glu1203=)
c.788-749G>A (p.=)
n.3886G>A
n.3927G>A
c.671-749G>A (p.=)
c.*3533G>A (p.=)
n.44G>A
c.785-749G>A (p.=)
n.410-749G>A (p.=)
n.413-749G>A (p.=)
c.647-749G>A (p.=)
c.5-27830G>A (p.=)
c.-43-17260G>A (p.=)
c.-99+33490G>A (p.=)
ClinVar dbSNP gnomAD
17g.43091782T>ACA10594472BRCA1c.3749A>T (p.Glu1250Val)
c.3608A>T (p.Glu1203Val)
c.788-750A>T (p.=)
n.3885A>T
n.3926A>T
c.671-750A>T (p.=)
c.*3532A>T (p.=)
n.43A>T
c.785-750A>T (p.=)
n.410-750A>T (p.=)
n.413-750A>T (p.=)
c.647-750A>T (p.=)
c.5-27831A>T (p.=)
c.-43-17261A>T (p.=)
c.-99+33489A>T (p.=)
17g.43091782T>CCA10594473BRCA1c.3749A>G (p.Glu1250Gly)
c.3608A>G (p.Glu1203Gly)
c.788-750A>G (p.=)
n.3885A>G
n.3926A>G
c.671-750A>G (p.=)
c.*3532A>G (p.=)
n.43A>G
c.785-750A>G (p.=)
n.410-750A>G (p.=)
n.413-750A>G (p.=)
c.647-750A>G (p.=)
c.5-27831A>G (p.=)
c.-43-17261A>G (p.=)
c.-99+33489A>G (p.=)
17g.43091782T>GCA10594474BRCA1c.3749A>C (p.Glu1250Ala)
c.3608A>C (p.Glu1203Ala)
c.788-750A>C (p.=)
n.3885A>C
n.3926A>C
c.671-750A>C (p.=)
c.*3532A>C (p.=)
n.43A>C
c.785-750A>C (p.=)
n.410-750A>C (p.=)
n.413-750A>C (p.=)
c.647-750A>C (p.=)
c.5-27831A>C (p.=)
c.-43-17261A>C (p.=)
c.-99+33489A>C (p.=)
17g.43091782_43091783insGCA658823947BRCA1c.3748_3749insC (p.Glu1250AlafsTer5)
c.3607_3608insC (p.Glu1203AlafsTer5)
c.788-751_788-750insC (p.=)
n.3884_3885insC
n.3925_3926insC
c.671-751_671-750insC (p.=)
c.*3531_*3532insC (p.=)
n.42_43insC
c.785-751_785-750insC (p.=)
n.410-751_410-750insC (p.=)
n.413-751_413-750insC (p.=)
c.647-751_647-750insC (p.=)
c.5-27832_5-27831insC (p.=)
c.-43-17262_-43-17261insC (p.=)
c.-99+33488_-99+33489insC (p.=)
ClinVar dbSNP
17g.43091783C>ACA002402BRCA1c.3748G>T (p.Glu1250Ter)
c.3607G>T (p.Glu1203Ter)
c.788-751G>T (p.=)
n.3884G>T
n.3925G>T
c.671-751G>T (p.=)
c.*3531G>T (p.=)
n.42G>T
c.785-751G>T (p.=)
n.410-751G>T (p.=)
n.413-751G>T (p.=)
c.647-751G>T (p.=)
c.5-27832G>T (p.=)
c.-43-17262G>T (p.=)
c.-99+33488G>T (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091783C>GCA10594475BRCA1c.3748G>C (p.Glu1250Gln)
c.3607G>C (p.Glu1203Gln)
c.788-751G>C (p.=)
n.3884G>C
n.3925G>C
c.671-751G>C (p.=)
c.*3531G>C (p.=)
n.42G>C
c.785-751G>C (p.=)
n.410-751G>C (p.=)
n.413-751G>C (p.=)
c.647-751G>C (p.=)
c.5-27832G>C (p.=)
c.-43-17262G>C (p.=)
c.-99+33488G>C (p.=)
17g.43091783C>TCA002401BRCA1c.3748G>A (p.Glu1250Lys)
c.3607G>A (p.Glu1203Lys)
c.788-751G>A (p.=)
n.3884G>A
n.3925G>A
c.671-751G>A (p.=)
c.*3531G>A (p.=)
n.42G>A
c.785-751G>A (p.=)
n.410-751G>A (p.=)
n.413-751G>A (p.=)
c.647-751G>A (p.=)
c.5-27832G>A (p.=)
c.-43-17262G>A (p.=)
c.-99+33488G>A (p.=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
17g.43091784G>ACA002400BRCA1c.3747C>T (p.Thr1249=)
c.3606C>T (p.Thr1202=)
c.788-752C>T (p.=)
n.3883C>T
n.3924C>T
c.671-752C>T (p.=)
c.*3530C>T (p.=)
n.41C>T
c.785-752C>T (p.=)
n.410-752C>T (p.=)
n.413-752C>T (p.=)
c.647-752C>T (p.=)
c.5-27833C>T (p.=)
c.-43-17263C>T (p.=)
c.-99+33487C>T (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091784G>CCA500232239BRCA1c.3747C>G (p.Thr1249=)
c.3606C>G (p.Thr1202=)
c.788-752C>G (p.=)
n.3883C>G
n.3924C>G
c.671-752C>G (p.=)
c.*3530C>G (p.=)
n.41C>G
c.785-752C>G (p.=)
n.410-752C>G (p.=)
n.413-752C>G (p.=)
c.647-752C>G (p.=)
c.5-27833C>G (p.=)
c.-43-17263C>G (p.=)
c.-99+33487C>G (p.=)
ClinVar
17g.43091784G>TCA290834605BRCA1c.3747C>A (p.Thr1249=)
c.3606C>A (p.Thr1202=)
c.788-752C>A (p.=)
n.3883C>A
n.3924C>A
c.671-752C>A (p.=)
c.*3530C>A (p.=)
n.41C>A
c.785-752C>A (p.=)
n.410-752C>A (p.=)
n.413-752C>A (p.=)
c.647-752C>A (p.=)
c.5-27833C>A (p.=)
c.-43-17263C>A (p.=)
c.-99+33487C>A (p.=)
ClinVar dbSNP
17g.43091785dupCA645373175BRCA1c.3747dup (p.Glu1250ArgfsTer5)
c.3606dup (p.Glu1203ArgfsTer5)
c.788-752dup (p.=)
n.3883dup
n.3924dup
c.671-752dup (p.=)
c.*3530dup (p.=)
n.41dup
c.785-752dup (p.=)
n.410-752dup (p.=)
n.413-752dup (p.=)
c.647-752dup (p.=)
c.5-27833dup (p.=)
c.-43-17263dup (p.=)
c.-99+33487dup (p.=)
ClinVar dbSNP
17g.43091784_43091817delCA10586619BRCA1c.3710_3743del (p.Gln1240ValfsTer13)
c.3569_3602del (p.Gln1193ValfsTer13)
c.788-789_788-756del (p.=)
n.3846_3879del
n.3887_3920del
c.671-789_671-756del (p.=)
c.*3493_*3526del (p.=)
n.4_37del
c.785-789_785-756del (p.=)
n.410-789_410-756del (p.=)
n.413-789_413-756del (p.=)
c.647-789_647-756del (p.=)
c.5-27870_5-27837del (p.=)
c.-43-17300_-43-17267del (p.=)
c.-99+33450_-99+33483del (p.=)
ClinVar dbSNP
17g.43091784_43091826dupCA274940BRCA1c.3705_3747dup (p.Glu1250GlnfsTer8)
c.3564_3606dup (p.Glu1203GlnfsTer8)
c.788-794_788-752dup (p.=)
n.3841_3883dup
n.3882_3924dup
c.671-794_671-752dup (p.=)
c.*3488_*3530dup (p.=)
c.785-794_785-752dup (p.=)
n.410-794_410-752dup (p.=)
n.413-794_413-752dup (p.=)
c.647-794_647-752dup (p.=)
c.5-27875_5-27833dup (p.=)
c.-43-17305_-43-17263dup (p.=)
c.-99+33445_-99+33487dup (p.=)
ClinVar dbSNP
17g.43091785G>ACA10594476BRCA1c.3746C>T (p.Thr1249Ile)
c.3605C>T (p.Thr1202Ile)
c.788-753C>T (p.=)
n.3882C>T
n.3923C>T
c.671-753C>T (p.=)
c.*3529C>T (p.=)
n.40C>T
c.785-753C>T (p.=)
n.410-753C>T (p.=)
n.413-753C>T (p.=)
c.647-753C>T (p.=)
c.5-27834C>T (p.=)
c.-43-17264C>T (p.=)
c.-99+33486C>T (p.=)
17g.43091785G>CCA002399BRCA1c.3746C>G (p.Thr1249Ser)
c.3605C>G (p.Thr1202Ser)
c.788-753C>G (p.=)
n.3882C>G
n.3923C>G
c.671-753C>G (p.=)
c.*3529C>G (p.=)
n.40C>G
c.785-753C>G (p.=)
n.410-753C>G (p.=)
n.413-753C>G (p.=)
c.647-753C>G (p.=)
c.5-27834C>G (p.=)
c.-43-17264C>G (p.=)
c.-99+33486C>G (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched