| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43084851_43094146del | CA645369660 | BRCA1 | c.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 |
| 17 | g.43091560_43092541dup | CA1139665610 | BRCA1 | c.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 |
| 17 | g.43091678del | CA002483 | BRCA1 | c.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 |
| 17 | g.43091679G>A | CA059148 | BRCA1 | c.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 |
| 17 | g.43091679G>C | CA10594259 | BRCA1 | c.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.=) | |
| 17 | g.43091679G>T | CA10594260 | BRCA1 | c.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.=) | ClinVar gnomAD |
| 17 | g.43091680_43091681dup | CA002481 | BRCA1 | c.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 |
| 17 | g.43091680T>A | CA10594261 | BRCA1 | c.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 |
| 17 | g.43091680T>C | CA002480 | BRCA1 | c.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 |
| 17 | g.43091680T>G | CA10594262 | BRCA1 | c.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.=) | |
| 17 | g.43091681G>A | CA10594263 | BRCA1 | c.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.=) | |
| 17 | g.43091681G>C | CA10594264 | BRCA1 | c.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.=) | |
| 17 | g.43091681G>T | CA10594265 | BRCA1 | c.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.=) | |
| 17 | g.43091681_43091691del | CA10589719 | BRCA1 | c.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 |
| 17 | g.43091682A>C | CA10594266 | BRCA1 | c.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.=) | |
| 17 | g.43091682A>G | CA500232158 | BRCA1 | c.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 |
| 17 | g.43091682A>T | CA10594267 | BRCA1 | c.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.=) | |
| 17 | g.43091683T>A | CA10594268 | BRCA1 | c.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.=) | |
| 17 | g.43091683T>C | CA002479 | BRCA1 | c.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 |
| 17 | g.43091683T>G | CA10594269 | BRCA1 | c.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.=) | |
| 17 | g.43091684G>A | CA10594270 | BRCA1 | c.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 |
| 17 | g.43091684G>C | CA10594271 | BRCA1 | c.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.=) | |
| 17 | g.43091684G>T | CA10594272 | BRCA1 | c.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.=) | |
| 17 | g.43091685T>A | CA10594273 | BRCA1 | c.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.=) | |
| 17 | g.43091685T>C | CA500232159 | BRCA1 | c.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 |
| 17 | g.43091685T>G | CA10594274 | BRCA1 | c.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.=) | |
| 17 | g.43091686T>A | CA002478 | BRCA1 | c.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 |
| 17 | g.43091686T>C | CA10594275 | BRCA1 | c.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.=) | |
| 17 | g.43091686T>G | CA10594276 | BRCA1 | c.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.=) | |
| 17 | g.43091687C>A | CA10594277 | BRCA1 | c.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.=) | |
| 17 | g.43091687C>G | CA10594278 | BRCA1 | c.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.=) | |
| 17 | g.43091687C>T | CA10594279 | BRCA1 | c.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.=) | |
| 17 | g.43091687del | CA002477 | BRCA1 | c.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 |
| 17 | g.43091688C>A | CA10594280 | BRCA1 | c.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 |
| 17 | g.43091688C>G | CA10594281 | BRCA1 | c.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.=) | |
| 17 | g.43091688C>T | CA500232160 | BRCA1 | c.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.=) | |
| 17 | g.43091688_43091690del | CA002474 | BRCA1 | c.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 |
| 17 | g.43091688_43091692del | CA10589720 | BRCA1 | c.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 |
| 17 | g.43091688_43091692delinsGCCT | CA002470 | BRCA1 | c.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 |
| 17 | g.43091689T>A | CA10594282 | BRCA1 | c.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.=) | |
| 17 | g.43091689T>C | CA10594283 | BRCA1 | c.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.=) | ClinVar |
| 17 | g.43091689T>G | CA002476 | BRCA1 | c.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 |
| 17 | g.43091689_43091690del | CA002472 | BRCA1 | c.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 |
| 17 | g.43091690G>A | CA002475 | BRCA1 | c.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 |
| 17 | g.43091690G>C | CA10594284 | BRCA1 | c.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 |
| 17 | g.43091690G>T | CA10594285 | BRCA1 | c.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.=) | |
| 17 | g.43091691A>C | CA500232161 | BRCA1 | c.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.=) | |
| 17 | g.43091691A>G | CA500232162 | BRCA1 | c.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.=) | |
| 17 | g.43091691A>T | CA500232163 | BRCA1 | c.3840T>A (p.Ser1280=) c.3699T>A (p.Ser1233=) c.788-659T>A (p.=) n.3976T>A n.4017T>A c.671-659T>A (p.=) c.*3623T>A (p.=) n.134T>A c.785-659T>A (p.=) n.410-659T>A (p.=) n.413-659T>A (p.=) c.647-659T>A (p.=) c.5-27740T>A (p.=) c.-43-17170T>A (p.=) c.-99+33580T>A (p.=) | |
| 17 | g.43091691_43091694del | CA10589721 | BRCA1 | c.3837_3840del (p.Ser1280ArgfsTer26) c.3696_3699del (p.Ser1233ArgfsTer26) c.788-662_788-659del (p.=) n.3973_3976del n.4014_4017del c.671-662_671-659del (p.=) c.*3620_*3623del (p.=) n.131_134del c.785-662_785-659del (p.=) n.410-662_410-659del (p.=) n.413-662_413-659del (p.=) c.647-662_647-659del (p.=) c.5-27743_5-27740del (p.=) c.-43-17173_-43-17170del (p.=) c.-99+33577_-99+33580del (p.=) | ClinVar dbSNP |