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.43091678G>ACA10594256BRCA1c.3853C>T (p.Leu1285Phe)
c.3712C>T (p.Leu1238Phe)
c.788-646C>T (p.=)
n.3989C>T
n.4030C>T
c.671-646C>T (p.=)
c.*3636C>T (p.=)
n.147C>T
c.785-646C>T (p.=)
n.410-646C>T (p.=)
n.413-646C>T (p.=)
c.647-646C>T (p.=)
c.5-27727C>T (p.=)
c.-43-17157C>T (p.=)
c.-99+33593C>T (p.=)
17g.43091678G>CCA10594257BRCA1c.3853C>G (p.Leu1285Val)
c.3712C>G (p.Leu1238Val)
c.788-646C>G (p.=)
n.3989C>G
n.4030C>G
c.671-646C>G (p.=)
c.*3636C>G (p.=)
n.147C>G
c.785-646C>G (p.=)
n.410-646C>G (p.=)
n.413-646C>G (p.=)
c.647-646C>G (p.=)
c.5-27727C>G (p.=)
c.-43-17157C>G (p.=)
c.-99+33593C>G (p.=)
17g.43091678G>TCA10594258BRCA1c.3853C>A (p.Leu1285Ile)
c.3712C>A (p.Leu1238Ile)
c.788-646C>A (p.=)
n.3989C>A
n.4030C>A
c.671-646C>A (p.=)
c.*3636C>A (p.=)
n.147C>A
c.785-646C>A (p.=)
n.410-646C>A (p.=)
n.413-646C>A (p.=)
c.647-646C>A (p.=)
c.5-27727C>A (p.=)
c.-43-17157C>A (p.=)
c.-99+33593C>A (p.=)
17g.43091678delCA002483BRCA1c.3852del (p.Ser1286ValfsTer21)
c.3711del (p.Ser1239ValfsTer21)
c.788-647del (p.=)
n.3988del
n.4029del
c.671-647del (p.=)
c.*3635del (p.=)
n.146del
c.785-647del (p.=)
n.410-647del (p.=)
n.413-647del (p.=)
c.647-647del (p.=)
c.5-27728del (p.=)
c.-43-17158del (p.=)
c.-99+33592del (p.=)
ClinVar dbSNP dbSNP
17g.43091679G>ACA059148BRCA1c.3852C>T (p.His1284=)
c.3711C>T (p.His1237=)
c.788-647C>T (p.=)
n.3988C>T
n.4029C>T
c.671-647C>T (p.=)
c.*3635C>T (p.=)
n.146C>T
c.785-647C>T (p.=)
n.410-647C>T (p.=)
n.413-647C>T (p.=)
c.647-647C>T (p.=)
c.5-27728C>T (p.=)
c.-43-17158C>T (p.=)
c.-99+33592C>T (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091679G>CCA10594259BRCA1c.3852C>G (p.His1284Gln)
c.3711C>G (p.His1237Gln)
c.788-647C>G (p.=)
n.3988C>G
n.4029C>G
c.671-647C>G (p.=)
c.*3635C>G (p.=)
n.146C>G
c.785-647C>G (p.=)
n.410-647C>G (p.=)
n.413-647C>G (p.=)
c.647-647C>G (p.=)
c.5-27728C>G (p.=)
c.-43-17158C>G (p.=)
c.-99+33592C>G (p.=)
17g.43091679G>TCA10594260BRCA1c.3852C>A (p.His1284Gln)
c.3711C>A (p.His1237Gln)
c.788-647C>A (p.=)
n.3988C>A
n.4029C>A
c.671-647C>A (p.=)
c.*3635C>A (p.=)
n.146C>A
c.785-647C>A (p.=)
n.410-647C>A (p.=)
n.413-647C>A (p.=)
c.647-647C>A (p.=)
c.5-27728C>A (p.=)
c.-43-17158C>A (p.=)
c.-99+33592C>A (p.=)
gnomAD
17g.43091680_43091681dupCA002481BRCA1c.3851_3852dup (p.Leu1285ThrfsTer23)
c.3710_3711dup (p.Leu1238ThrfsTer23)
c.788-648_788-647dup (p.=)
n.3987_3988dup
n.4028_4029dup
c.671-648_671-647dup (p.=)
c.*3634_*3635dup (p.=)
n.145_146dup
c.785-648_785-647dup (p.=)
n.410-648_410-647dup (p.=)
n.413-648_413-647dup (p.=)
c.647-648_647-647dup (p.=)
c.5-27729_5-27728dup (p.=)
c.-43-17159_-43-17158dup (p.=)
c.-99+33591_-99+33592dup (p.=)
ClinVar dbSNP
17g.43091680T>ACA10594261BRCA1c.3851A>T (p.His1284Leu)
c.3710A>T (p.His1237Leu)
c.788-648A>T (p.=)
n.3987A>T
n.4028A>T
c.671-648A>T (p.=)
c.*3634A>T (p.=)
n.145A>T
c.785-648A>T (p.=)
n.410-648A>T (p.=)
n.413-648A>T (p.=)
c.647-648A>T (p.=)
c.5-27729A>T (p.=)
c.-43-17159A>T (p.=)
c.-99+33591A>T (p.=)
ClinVar
17g.43091680T>CCA002480BRCA1c.3851A>G (p.His1284Arg)
c.3710A>G (p.His1237Arg)
c.788-648A>G (p.=)
n.3987A>G
n.4028A>G
c.671-648A>G (p.=)
c.*3634A>G (p.=)
n.145A>G
c.785-648A>G (p.=)
n.410-648A>G (p.=)
n.413-648A>G (p.=)
c.647-648A>G (p.=)
c.5-27729A>G (p.=)
c.-43-17159A>G (p.=)
c.-99+33591A>G (p.=)
ClinVar dbSNP
17g.43091680T>GCA10594262BRCA1c.3851A>C (p.His1284Pro)
c.3710A>C (p.His1237Pro)
c.788-648A>C (p.=)
n.3987A>C
n.4028A>C
c.671-648A>C (p.=)
c.*3634A>C (p.=)
n.145A>C
c.785-648A>C (p.=)
n.410-648A>C (p.=)
n.413-648A>C (p.=)
c.647-648A>C (p.=)
c.5-27729A>C (p.=)
c.-43-17159A>C (p.=)
c.-99+33591A>C (p.=)
17g.43091681G>ACA10594263BRCA1c.3850C>T (p.His1284Tyr)
c.3709C>T (p.His1237Tyr)
c.788-649C>T (p.=)
n.3986C>T
n.4027C>T
c.671-649C>T (p.=)
c.*3633C>T (p.=)
n.144C>T
c.785-649C>T (p.=)
n.410-649C>T (p.=)
n.413-649C>T (p.=)
c.647-649C>T (p.=)
c.5-27730C>T (p.=)
c.-43-17160C>T (p.=)
c.-99+33590C>T (p.=)
17g.43091681G>CCA10594264BRCA1c.3850C>G (p.His1284Asp)
c.3709C>G (p.His1237Asp)
c.788-649C>G (p.=)
n.3986C>G
n.4027C>G
c.671-649C>G (p.=)
c.*3633C>G (p.=)
n.144C>G
c.785-649C>G (p.=)
n.410-649C>G (p.=)
n.413-649C>G (p.=)
c.647-649C>G (p.=)
c.5-27730C>G (p.=)
c.-43-17160C>G (p.=)
c.-99+33590C>G (p.=)
17g.43091681G>TCA10594265BRCA1c.3850C>A (p.His1284Asn)
c.3709C>A (p.His1237Asn)
c.788-649C>A (p.=)
n.3986C>A
n.4027C>A
c.671-649C>A (p.=)
c.*3633C>A (p.=)
n.144C>A
c.785-649C>A (p.=)
n.410-649C>A (p.=)
n.413-649C>A (p.=)
c.647-649C>A (p.=)
c.5-27730C>A (p.=)
c.-43-17160C>A (p.=)
c.-99+33590C>A (p.=)
17g.43091681_43091691delCA10589719BRCA1c.3836_3846del (p.Gln1281ProfsTer2)
c.3695_3705del (p.Gln1234ProfsTer2)
c.788-663_788-653del (p.=)
n.3972_3982del
n.4013_4023del
c.671-663_671-653del (p.=)
c.*3619_*3629del (p.=)
n.130_140del
c.785-663_785-653del (p.=)
n.410-663_410-653del (p.=)
n.413-663_413-653del (p.=)
c.647-663_647-653del (p.=)
c.5-27744_5-27734del (p.=)
c.-43-17174_-43-17164del (p.=)
c.-99+33576_-99+33586del (p.=)
ClinVar dbSNP
17g.43091682A>CCA10594266BRCA1c.3849T>G (p.His1283Gln)
c.3708T>G (p.His1236Gln)
c.788-650T>G (p.=)
n.3985T>G
n.4026T>G
c.671-650T>G (p.=)
c.*3632T>G (p.=)
n.143T>G
c.785-650T>G (p.=)
n.410-650T>G (p.=)
n.413-650T>G (p.=)
c.647-650T>G (p.=)
c.5-27731T>G (p.=)
c.-43-17161T>G (p.=)
c.-99+33589T>G (p.=)
17g.43091682A>GCA500232158BRCA1c.3849T>C (p.His1283=)
c.3708T>C (p.His1236=)
c.788-650T>C (p.=)
n.3985T>C
n.4026T>C
c.671-650T>C (p.=)
c.*3632T>C (p.=)
n.143T>C
c.785-650T>C (p.=)
n.410-650T>C (p.=)
n.413-650T>C (p.=)
c.647-650T>C (p.=)
c.5-27731T>C (p.=)
c.-43-17161T>C (p.=)
c.-99+33589T>C (p.=)
ClinVar
17g.43091682A>TCA10594267BRCA1c.3849T>A (p.His1283Gln)
c.3708T>A (p.His1236Gln)
c.788-650T>A (p.=)
n.3985T>A
n.4026T>A
c.671-650T>A (p.=)
c.*3632T>A (p.=)
n.143T>A
c.785-650T>A (p.=)
n.410-650T>A (p.=)
n.413-650T>A (p.=)
c.647-650T>A (p.=)
c.5-27731T>A (p.=)
c.-43-17161T>A (p.=)
c.-99+33589T>A (p.=)
17g.43091683T>ACA10594268BRCA1c.3848A>T (p.His1283Leu)
c.3707A>T (p.His1236Leu)
c.788-651A>T (p.=)
n.3984A>T
n.4025A>T
c.671-651A>T (p.=)
c.*3631A>T (p.=)
n.142A>T
c.785-651A>T (p.=)
n.410-651A>T (p.=)
n.413-651A>T (p.=)
c.647-651A>T (p.=)
c.5-27732A>T (p.=)
c.-43-17162A>T (p.=)
c.-99+33588A>T (p.=)
17g.43091683T>CCA002479BRCA1c.3848A>G (p.His1283Arg)
c.3707A>G (p.His1236Arg)
c.788-651A>G (p.=)
n.3984A>G
n.4025A>G
c.671-651A>G (p.=)
c.*3631A>G (p.=)
n.142A>G
c.785-651A>G (p.=)
n.410-651A>G (p.=)
n.413-651A>G (p.=)
c.647-651A>G (p.=)
c.5-27732A>G (p.=)
c.-43-17162A>G (p.=)
c.-99+33588A>G (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091683T>GCA10594269BRCA1c.3848A>C (p.His1283Pro)
c.3707A>C (p.His1236Pro)
c.788-651A>C (p.=)
n.3984A>C
n.4025A>C
c.671-651A>C (p.=)
c.*3631A>C (p.=)
n.142A>C
c.785-651A>C (p.=)
n.410-651A>C (p.=)
n.413-651A>C (p.=)
c.647-651A>C (p.=)
c.5-27732A>C (p.=)
c.-43-17162A>C (p.=)
c.-99+33588A>C (p.=)
17g.43091684G>ACA10594270BRCA1c.3847C>T (p.His1283Tyr)
c.3706C>T (p.His1236Tyr)
c.788-652C>T (p.=)
n.3983C>T
n.4024C>T
c.671-652C>T (p.=)
c.*3630C>T (p.=)
n.141C>T
c.785-652C>T (p.=)
n.410-652C>T (p.=)
n.413-652C>T (p.=)
c.647-652C>T (p.=)
c.5-27733C>T (p.=)
c.-43-17163C>T (p.=)
c.-99+33587C>T (p.=)
ClinVar
17g.43091684G>CCA10594271BRCA1c.3847C>G (p.His1283Asp)
c.3706C>G (p.His1236Asp)
c.788-652C>G (p.=)
n.3983C>G
n.4024C>G
c.671-652C>G (p.=)
c.*3630C>G (p.=)
n.141C>G
c.785-652C>G (p.=)
n.410-652C>G (p.=)
n.413-652C>G (p.=)
c.647-652C>G (p.=)
c.5-27733C>G (p.=)
c.-43-17163C>G (p.=)
c.-99+33587C>G (p.=)
17g.43091684G>TCA10594272BRCA1c.3847C>A (p.His1283Asn)
c.3706C>A (p.His1236Asn)
c.788-652C>A (p.=)
n.3983C>A
n.4024C>A
c.671-652C>A (p.=)
c.*3630C>A (p.=)
n.141C>A
c.785-652C>A (p.=)
n.410-652C>A (p.=)
n.413-652C>A (p.=)
c.647-652C>A (p.=)
c.5-27733C>A (p.=)
c.-43-17163C>A (p.=)
c.-99+33587C>A (p.=)
17g.43091685T>ACA10594273BRCA1c.3846A>T (p.Glu1282Asp)
c.3705A>T (p.Glu1235Asp)
c.788-653A>T (p.=)
n.3982A>T
n.4023A>T
c.671-653A>T (p.=)
c.*3629A>T (p.=)
n.140A>T
c.785-653A>T (p.=)
n.410-653A>T (p.=)
n.413-653A>T (p.=)
c.647-653A>T (p.=)
c.5-27734A>T (p.=)
c.-43-17164A>T (p.=)
c.-99+33586A>T (p.=)
17g.43091685T>CCA500232159BRCA1c.3846A>G (p.Glu1282=)
c.3705A>G (p.Glu1235=)
c.788-653A>G (p.=)
n.3982A>G
n.4023A>G
c.671-653A>G (p.=)
c.*3629A>G (p.=)
n.140A>G
c.785-653A>G (p.=)
n.410-653A>G (p.=)
n.413-653A>G (p.=)
c.647-653A>G (p.=)
c.5-27734A>G (p.=)
c.-43-17164A>G (p.=)
c.-99+33586A>G (p.=)
ClinVar
17g.43091685T>GCA10594274BRCA1c.3846A>C (p.Glu1282Asp)
c.3705A>C (p.Glu1235Asp)
c.788-653A>C (p.=)
n.3982A>C
n.4023A>C
c.671-653A>C (p.=)
c.*3629A>C (p.=)
n.140A>C
c.785-653A>C (p.=)
n.410-653A>C (p.=)
n.413-653A>C (p.=)
c.647-653A>C (p.=)
c.5-27734A>C (p.=)
c.-43-17164A>C (p.=)
c.-99+33586A>C (p.=)
17g.43091686T>ACA002478BRCA1c.3845A>T (p.Glu1282Val)
c.3704A>T (p.Glu1235Val)
c.788-654A>T (p.=)
n.3981A>T
n.4022A>T
c.671-654A>T (p.=)
c.*3628A>T (p.=)
n.139A>T
c.785-654A>T (p.=)
n.410-654A>T (p.=)
n.413-654A>T (p.=)
c.647-654A>T (p.=)
c.5-27735A>T (p.=)
c.-43-17165A>T (p.=)
c.-99+33585A>T (p.=)
ClinVar dbSNP gnomAD
17g.43091686T>CCA10594275BRCA1c.3845A>G (p.Glu1282Gly)
c.3704A>G (p.Glu1235Gly)
c.788-654A>G (p.=)
n.3981A>G
n.4022A>G
c.671-654A>G (p.=)
c.*3628A>G (p.=)
n.139A>G
c.785-654A>G (p.=)
n.410-654A>G (p.=)
n.413-654A>G (p.=)
c.647-654A>G (p.=)
c.5-27735A>G (p.=)
c.-43-17165A>G (p.=)
c.-99+33585A>G (p.=)
17g.43091686T>GCA10594276BRCA1c.3845A>C (p.Glu1282Ala)
c.3704A>C (p.Glu1235Ala)
c.788-654A>C (p.=)
n.3981A>C
n.4022A>C
c.671-654A>C (p.=)
c.*3628A>C (p.=)
n.139A>C
c.785-654A>C (p.=)
n.410-654A>C (p.=)
n.413-654A>C (p.=)
c.647-654A>C (p.=)
c.5-27735A>C (p.=)
c.-43-17165A>C (p.=)
c.-99+33585A>C (p.=)
17g.43091687C>ACA10594277BRCA1c.3844G>T (p.Glu1282Ter)
c.3703G>T (p.Glu1235Ter)
c.788-655G>T (p.=)
n.3980G>T
n.4021G>T
c.671-655G>T (p.=)
c.*3627G>T (p.=)
n.138G>T
c.785-655G>T (p.=)
n.410-655G>T (p.=)
n.413-655G>T (p.=)
c.647-655G>T (p.=)
c.5-27736G>T (p.=)
c.-43-17166G>T (p.=)
c.-99+33584G>T (p.=)
17g.43091687C>GCA10594278BRCA1c.3844G>C (p.Glu1282Gln)
c.3703G>C (p.Glu1235Gln)
c.788-655G>C (p.=)
n.3980G>C
n.4021G>C
c.671-655G>C (p.=)
c.*3627G>C (p.=)
n.138G>C
c.785-655G>C (p.=)
n.410-655G>C (p.=)
n.413-655G>C (p.=)
c.647-655G>C (p.=)
c.5-27736G>C (p.=)
c.-43-17166G>C (p.=)
c.-99+33584G>C (p.=)
17g.43091687C>TCA10594279BRCA1c.3844G>A (p.Glu1282Lys)
c.3703G>A (p.Glu1235Lys)
c.788-655G>A (p.=)
n.3980G>A
n.4021G>A
c.671-655G>A (p.=)
c.*3627G>A (p.=)
n.138G>A
c.785-655G>A (p.=)
n.410-655G>A (p.=)
n.413-655G>A (p.=)
c.647-655G>A (p.=)
c.5-27736G>A (p.=)
c.-43-17166G>A (p.=)
c.-99+33584G>A (p.=)
17g.43091687delCA002477BRCA1c.3843del (p.Glu1282AsnfsTer25)
c.3702del (p.Glu1235AsnfsTer25)
c.788-656del (p.=)
n.3979del
n.4020del
c.671-656del (p.=)
c.*3626del (p.=)
n.137del
c.785-656del (p.=)
n.410-656del (p.=)
n.413-656del (p.=)
c.647-656del (p.=)
c.5-27737del (p.=)
c.-43-17167del (p.=)
c.-99+33583del (p.=)
ClinVar dbSNP
17g.43091688C>ACA10594280BRCA1c.3843G>T (p.Gln1281His)
c.3702G>T (p.Gln1234His)
c.788-656G>T (p.=)
n.3979G>T
n.4020G>T
c.671-656G>T (p.=)
c.*3626G>T (p.=)
n.137G>T
c.785-656G>T (p.=)
n.410-656G>T (p.=)
n.413-656G>T (p.=)
c.647-656G>T (p.=)
c.5-27737G>T (p.=)
c.-43-17167G>T (p.=)
c.-99+33583G>T (p.=)
ClinVar
17g.43091688C>GCA10594281BRCA1c.3843G>C (p.Gln1281His)
c.3702G>C (p.Gln1234His)
c.788-656G>C (p.=)
n.3979G>C
n.4020G>C
c.671-656G>C (p.=)
c.*3626G>C (p.=)
n.137G>C
c.785-656G>C (p.=)
n.410-656G>C (p.=)
n.413-656G>C (p.=)
c.647-656G>C (p.=)
c.5-27737G>C (p.=)
c.-43-17167G>C (p.=)
c.-99+33583G>C (p.=)
17g.43091688C>TCA500232160BRCA1c.3843G>A (p.Gln1281=)
c.3702G>A (p.Gln1234=)
c.788-656G>A (p.=)
n.3979G>A
n.4020G>A
c.671-656G>A (p.=)
c.*3626G>A (p.=)
n.137G>A
c.785-656G>A (p.=)
n.410-656G>A (p.=)
n.413-656G>A (p.=)
c.647-656G>A (p.=)
c.5-27737G>A (p.=)
c.-43-17167G>A (p.=)
c.-99+33583G>A (p.=)
17g.43091688_43091690delCA002474BRCA1c.3841_3843del (p.Gln1281del)
c.3700_3702del (p.Gln1234del)
c.788-658_788-656del (p.=)
n.3977_3979del
n.4018_4020del
c.671-658_671-656del (p.=)
c.*3624_*3626del (p.=)
n.135_137del
c.785-658_785-656del (p.=)
n.410-658_410-656del (p.=)
n.413-658_413-656del (p.=)
c.647-658_647-656del (p.=)
c.5-27739_5-27737del (p.=)
c.-43-17169_-43-17167del (p.=)
c.-99+33581_-99+33583del (p.=)
ClinVar dbSNP
17g.43091688_43091692delCA10589720BRCA1c.3839_3843del (p.Ser1280Ter)
c.3698_3702del (p.Ser1233Ter)
c.788-660_788-656del (p.=)
n.3975_3979del
n.4016_4020del
c.671-660_671-656del (p.=)
c.*3622_*3626del (p.=)
n.133_137del
c.785-660_785-656del (p.=)
n.410-660_410-656del (p.=)
n.413-660_413-656del (p.=)
c.647-660_647-656del (p.=)
c.5-27741_5-27737del (p.=)
c.-43-17171_-43-17167del (p.=)
c.-99+33579_-99+33583del (p.=)
ClinVar dbSNP
17g.43091688_43091692delinsGCCTCA002470BRCA1c.3839_3843delinsAGGC (p.Ser1280Ter)
c.3698_3702delinsAGGC (p.Ser1233Ter)
c.788-660_788-656delinsAGGC (p.=)
n.3975_3979delinsAGGC
n.4016_4020delinsAGGC
c.671-660_671-656delinsAGGC (p.=)
c.*3622_*3626delinsAGGC (p.=)
n.133_137delinsAGGC
c.785-660_785-656delinsAGGC (p.=)
n.410-660_410-656delinsAGGC (p.=)
n.413-660_413-656delinsAGGC (p.=)
c.647-660_647-656delinsAGGC (p.=)
c.5-27741_5-27737delinsAGGC (p.=)
c.-43-17171_-43-17167delinsAGGC (p.=)
c.-99+33579_-99+33583delinsAGGC (p.=)
ClinVar dbSNP
17g.43091689T>ACA10594282BRCA1c.3842A>T (p.Gln1281Leu)
c.3701A>T (p.Gln1234Leu)
c.788-657A>T (p.=)
n.3978A>T
n.4019A>T
c.671-657A>T (p.=)
c.*3625A>T (p.=)
n.136A>T
c.785-657A>T (p.=)
n.410-657A>T (p.=)
n.413-657A>T (p.=)
c.647-657A>T (p.=)
c.5-27738A>T (p.=)
c.-43-17168A>T (p.=)
c.-99+33582A>T (p.=)
17g.43091689T>CCA10594283BRCA1c.3842A>G (p.Gln1281Arg)
c.3701A>G (p.Gln1234Arg)
c.788-657A>G (p.=)
n.3978A>G
n.4019A>G
c.671-657A>G (p.=)
c.*3625A>G (p.=)
n.136A>G
c.785-657A>G (p.=)
n.410-657A>G (p.=)
n.413-657A>G (p.=)
c.647-657A>G (p.=)
c.5-27738A>G (p.=)
c.-43-17168A>G (p.=)
c.-99+33582A>G (p.=)
17g.43091689T>GCA002476BRCA1c.3842A>C (p.Gln1281Pro)
c.3701A>C (p.Gln1234Pro)
c.788-657A>C (p.=)
n.3978A>C
n.4019A>C
c.671-657A>C (p.=)
c.*3625A>C (p.=)
n.136A>C
c.785-657A>C (p.=)
n.410-657A>C (p.=)
n.413-657A>C (p.=)
c.647-657A>C (p.=)
c.5-27738A>C (p.=)
c.-43-17168A>C (p.=)
c.-99+33582A>C (p.=)
ClinVar dbSNP ExAC gnomAD
17g.43091689_43091690delCA002472BRCA1c.3841_3842del (p.Gln1281GlyfsTer5)
c.3700_3701del (p.Gln1234GlyfsTer5)
c.788-658_788-657del (p.=)
n.3977_3978del
n.4018_4019del
c.671-658_671-657del (p.=)
c.*3624_*3625del (p.=)
n.135_136del
c.785-658_785-657del (p.=)
n.410-658_410-657del (p.=)
n.413-658_413-657del (p.=)
c.647-658_647-657del (p.=)
c.5-27739_5-27738del (p.=)
c.-43-17169_-43-17168del (p.=)
c.-99+33581_-99+33582del (p.=)
ClinVar dbSNP
17g.43091690G>ACA002475BRCA1c.3841C>T (p.Gln1281Ter)
c.3700C>T (p.Gln1234Ter)
c.788-658C>T (p.=)
n.3977C>T
n.4018C>T
c.671-658C>T (p.=)
c.*3624C>T (p.=)
n.135C>T
c.785-658C>T (p.=)
n.410-658C>T (p.=)
n.413-658C>T (p.=)
c.647-658C>T (p.=)
c.5-27739C>T (p.=)
c.-43-17169C>T (p.=)
c.-99+33581C>T (p.=)
ClinVar dbSNP COSMIC
17g.43091690G>CCA10594284BRCA1c.3841C>G (p.Gln1281Glu)
c.3700C>G (p.Gln1234Glu)
c.788-658C>G (p.=)
n.3977C>G
n.4018C>G
c.671-658C>G (p.=)
c.*3624C>G (p.=)
n.135C>G
c.785-658C>G (p.=)
n.410-658C>G (p.=)
n.413-658C>G (p.=)
c.647-658C>G (p.=)
c.5-27739C>G (p.=)
c.-43-17169C>G (p.=)
c.-99+33581C>G (p.=)
ClinVar
17g.43091690G>TCA10594285BRCA1c.3841C>A (p.Gln1281Lys)
c.3700C>A (p.Gln1234Lys)
c.788-658C>A (p.=)
n.3977C>A
n.4018C>A
c.671-658C>A (p.=)
c.*3624C>A (p.=)
n.135C>A
c.785-658C>A (p.=)
n.410-658C>A (p.=)
n.413-658C>A (p.=)
c.647-658C>A (p.=)
c.5-27739C>A (p.=)
c.-43-17169C>A (p.=)
c.-99+33581C>A (p.=)
17g.43091691A>CCA500232161BRCA1c.3840T>G (p.Ser1280=)
c.3699T>G (p.Ser1233=)
c.788-659T>G (p.=)
n.3976T>G
n.4017T>G
c.671-659T>G (p.=)
c.*3623T>G (p.=)
n.134T>G
c.785-659T>G (p.=)
n.410-659T>G (p.=)
n.413-659T>G (p.=)
c.647-659T>G (p.=)
c.5-27740T>G (p.=)
c.-43-17170T>G (p.=)
c.-99+33580T>G (p.=)
17g.43091691A>GCA500232162BRCA1c.3840T>C (p.Ser1280=)
c.3699T>C (p.Ser1233=)
c.788-659T>C (p.=)
n.3976T>C
n.4017T>C
c.671-659T>C (p.=)
c.*3623T>C (p.=)
n.134T>C
c.785-659T>C (p.=)
n.410-659T>C (p.=)
n.413-659T>C (p.=)
c.647-659T>C (p.=)
c.5-27740T>C (p.=)
c.-43-17170T>C (p.=)
c.-99+33580T>C (p.=)

Number of alleles fetched