Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084852_43094147delCA645369660BRCA1c.1385_4186-2276del
c.1244_4045-2276del
c.787+598_877-2276del
n.1521_4322-2276del
n.1562_4363-2276del
c.670+1700_760-2276del
c.*1168_*3969-2276del
c.784+598_874-2276del
n.409+598_499-2276del
n.412+598_502-2276del
c.646+598_736-2276del
c.5-30195_5-20900del (p.=)
c.-43-19625_-43-10330del (p.=)
c.-99+31125_-98-34661del (p.=)
ClinVar
17g.43091764_43091782delCA913190411BRCA1c.3751_3769del (p.Cys1251ArgfsTer7)
c.3610_3628del (p.Cys1204ArgfsTer7)
c.788-748_788-730del (p.=)
n.3887_3905del
n.3928_3946del
c.671-748_671-730del (p.=)
c.*3534_*3552del (p.=)
n.45_63del
c.785-748_785-730del (p.=)
n.410-748_410-730del (p.=)
n.413-748_413-730del (p.=)
c.647-748_647-730del (p.=)
c.5-27829_5-27811del (p.=)
c.-43-17259_-43-17241del (p.=)
c.-99+33491_-99+33509del (p.=)
ClinVar dbSNP
17g.43091771_43091772delCA002410BRCA1c.3759_3760del (p.Lys1254GlufsTer12)
c.3618_3619del (p.Lys1207GlufsTer12)
c.788-740_788-739del (p.=)
n.3895_3896del
n.3936_3937del
c.671-740_671-739del (p.=)
c.*3542_*3543del (p.=)
n.53_54del
c.785-740_785-739del (p.=)
n.410-740_410-739del (p.=)
n.413-740_413-739del (p.=)
c.647-740_647-739del (p.=)
c.5-27821_5-27820del (p.=)
c.-43-17251_-43-17250del (p.=)
c.-99+33499_-99+33500del (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.43091772delCA002412BRCA1c.3759del (p.Lys1254ArgfsTer10)
c.3618del (p.Lys1207ArgfsTer10)
c.788-740del (p.=)
n.3895del
n.3936del
c.671-740del (p.=)
c.*3542del (p.=)
n.53del
c.785-740del (p.=)
n.410-740del (p.=)
n.413-740del (p.=)
c.647-740del (p.=)
c.5-27821del (p.=)
c.-43-17251del (p.=)
c.-99+33499del (p.=)
ClinVar dbSNP
17g.43091772A>CCA002413BRCA1c.3759T>G (p.Ser1253=)
c.3618T>G (p.Ser1206=)
c.788-740T>G (p.=)
n.3895T>G
n.3936T>G
c.671-740T>G (p.=)
c.*3542T>G (p.=)
n.53T>G
c.785-740T>G (p.=)
n.410-740T>G (p.=)
n.413-740T>G (p.=)
c.647-740T>G (p.=)
c.5-27821T>G (p.=)
c.-43-17251T>G (p.=)
c.-99+33499T>G (p.=)
ClinVar dbSNP
17g.43091772A>GCA500232227BRCA1c.3759T>C (p.Ser1253=)
c.3618T>C (p.Ser1206=)
c.788-740T>C (p.=)
n.3895T>C
n.3936T>C
c.671-740T>C (p.=)
c.*3542T>C (p.=)
n.53T>C
c.785-740T>C (p.=)
n.410-740T>C (p.=)
n.413-740T>C (p.=)
c.647-740T>C (p.=)
c.5-27821T>C (p.=)
c.-43-17251T>C (p.=)
c.-99+33499T>C (p.=)
17g.43091772A>TCA500232228BRCA1c.3759T>A (p.Ser1253=)
c.3618T>A (p.Ser1206=)
c.788-740T>A (p.=)
n.3895T>A
n.3936T>A
c.671-740T>A (p.=)
c.*3542T>A (p.=)
n.53T>A
c.785-740T>A (p.=)
n.410-740T>A (p.=)
n.413-740T>A (p.=)
c.647-740T>A (p.=)
c.5-27821T>A (p.=)
c.-43-17251T>A (p.=)
c.-99+33499T>A (p.=)
17g.43091772dupCA002411BRCA1c.3759dup (p.Lys1254Ter)
c.3618dup (p.Lys1207Ter)
c.788-740dup (p.=)
n.3895dup
n.3936dup
c.671-740dup (p.=)
c.*3542dup (p.=)
n.53dup
c.785-740dup (p.=)
n.410-740dup (p.=)
n.413-740dup (p.=)
c.647-740dup (p.=)
c.5-27821dup (p.=)
c.-43-17251dup (p.=)
c.-99+33499dup (p.=)
ClinVar dbSNP
17g.43091773_43091774delCA658761215BRCA1c.3758_3759del (p.Ser1253Ter)
c.3617_3618del (p.Ser1206Ter)
c.788-741_788-740del (p.=)
n.3894_3895del
n.3935_3936del
c.671-741_671-740del (p.=)
c.*3541_*3542del (p.=)
n.52_53del
c.785-741_785-740del (p.=)
n.410-741_410-740del (p.=)
n.413-741_413-740del (p.=)
c.647-741_647-740del (p.=)
c.5-27822_5-27821del (p.=)
c.-43-17252_-43-17251del (p.=)
c.-99+33498_-99+33499del (p.=)
ClinVar dbSNP
17g.43091777_43091780delCA002407BRCA1c.3756_3759del (p.Ser1253ArgfsTer10)
c.3615_3618del (p.Ser1206ArgfsTer10)
c.788-743_788-740del (p.=)
n.3892_3895del
n.3933_3936del
c.671-743_671-740del (p.=)
c.*3539_*3542del (p.=)
n.50_53del
c.785-743_785-740del (p.=)
n.410-743_410-740del (p.=)
n.413-743_413-740del (p.=)
c.647-743_647-740del (p.=)
c.5-27824_5-27821del (p.=)
c.-43-17254_-43-17251del (p.=)
c.-99+33496_-99+33499del (p.=)
ClinVar dbSNP dbSNP ExAC gnomAD
17g.43091773G>ACA10594457BRCA1c.3758C>T (p.Ser1253Phe)
c.3617C>T (p.Ser1206Phe)
c.788-741C>T (p.=)
n.3894C>T
n.3935C>T
c.671-741C>T (p.=)
c.*3541C>T (p.=)
n.52C>T
c.785-741C>T (p.=)
n.410-741C>T (p.=)
n.413-741C>T (p.=)
c.647-741C>T (p.=)
c.5-27822C>T (p.=)
c.-43-17252C>T (p.=)
c.-99+33498C>T (p.=)
17g.43091773G>CCA002409BRCA1c.3758C>G (p.Ser1253Cys)
c.3617C>G (p.Ser1206Cys)
c.788-741C>G (p.=)
n.3894C>G
n.3935C>G
c.671-741C>G (p.=)
c.*3541C>G (p.=)
n.52C>G
c.785-741C>G (p.=)
n.410-741C>G (p.=)
n.413-741C>G (p.=)
c.647-741C>G (p.=)
c.5-27822C>G (p.=)
c.-43-17252C>G (p.=)
c.-99+33498C>G (p.=)
ClinVar dbSNP gnomAD
17g.43091773G>TCA002408BRCA1c.3758C>A (p.Ser1253Tyr)
c.3617C>A (p.Ser1206Tyr)
c.788-741C>A (p.=)
n.3894C>A
n.3935C>A
c.671-741C>A (p.=)
c.*3541C>A (p.=)
n.52C>A
c.785-741C>A (p.=)
n.410-741C>A (p.=)
n.413-741C>A (p.=)
c.647-741C>A (p.=)
c.5-27822C>A (p.=)
c.-43-17252C>A (p.=)
c.-99+33498C>A (p.=)
ClinVar dbSNP
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.43091775_43091776delCA002406BRCA1c.3756_3757del (p.Ser1253Ter)
c.3615_3616del (p.Ser1206Ter)
c.788-743_788-742del (p.=)
n.3892_3893del
n.3933_3934del
c.671-743_671-742del (p.=)
c.*3539_*3540del (p.=)
n.50_51del
c.785-743_785-742del (p.=)
n.410-743_410-742del (p.=)
n.413-743_413-742del (p.=)
c.647-743_647-742del (p.=)
c.5-27824_5-27823del (p.=)
c.-43-17254_-43-17253del (p.=)
c.-99+33496_-99+33497del (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.43091777_43091778delCA645373174BRCA1c.3754_3755del (p.Leu1252ValfsTer2)
c.3613_3614del (p.Leu1205ValfsTer2)
c.788-745_788-744del (p.=)
n.3890_3891del
n.3931_3932del
c.671-745_671-744del (p.=)
c.*3537_*3538del (p.=)
n.48_49del
c.785-745_785-744del (p.=)
n.410-745_410-744del (p.=)
n.413-745_413-744del (p.=)
c.647-745_647-744del (p.=)
c.5-27826_5-27825del (p.=)
c.-43-17256_-43-17255del (p.=)
c.-99+33494_-99+33495del (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.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

Number of alleles fetched