| 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.43091762_43091780del | CA913190411 | BRCA1 | c.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 |
| 17 | g.43091771_43091772del | CA002410 | BRCA1 | c.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 |
| 17 | g.43091771_43091775del | CA10589725 | BRCA1 | c.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 |
| 17 | g.43091772del | CA002412 | BRCA1 | c.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 |
| 17 | g.43091772A>C | CA002413 | BRCA1 | c.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 |
| 17 | g.43091772A>G | CA500232227 | BRCA1 | c.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.=) | |
| 17 | g.43091772A>T | CA500232228 | BRCA1 | c.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.=) | |
| 17 | g.43091772dup | CA002411 | BRCA1 | c.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 |
| 17 | g.43091772_43091773del | CA658761215 | BRCA1 | c.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 |
| 17 | g.43091772_43091775del | CA002407 | BRCA1 | c.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 |
| 17 | g.43091773G>A | CA10594457 | BRCA1 | c.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.=) | |
| 17 | g.43091773G>C | CA002409 | BRCA1 | c.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 |
| 17 | g.43091773G>T | CA002408 | BRCA1 | c.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 |
| 17 | g.43091774A>C | CA10594458 | BRCA1 | c.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.=) | |
| 17 | g.43091774A>G | CA10594459 | BRCA1 | c.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.=) | |
| 17 | g.43091774A>T | CA10594460 | BRCA1 | c.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.=) | |
| 17 | g.43091774_43091775del | CA002406 | BRCA1 | c.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 |
| 17 | g.43091775C>A | CA500232230 | BRCA1 | c.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.=) | |
| 17 | g.43091775C>G | CA059211 | BRCA1 | c.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 |
| 17 | g.43091775C>T | CA16615387 | BRCA1 | c.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 |
| 17 | g.43091776A>C | CA10594461 | BRCA1 | c.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.=) | |
| 17 | g.43091776A>G | CA10594462 | BRCA1 | c.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 |
| 17 | g.43091776A>T | CA10594463 | BRCA1 | c.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 |
| 17 | g.43091776_43091777del | CA645373174 | BRCA1 | c.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 |
| 17 | g.43091777G>A | CA290834549 | BRCA1 | c.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 |
| 17 | g.43091777G>C | CA10594464 | BRCA1 | c.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.=) | |
| 17 | g.43091777G>T | CA10594465 | BRCA1 | c.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.=) | |
| 17 | g.43091778A>C | CA10594466 | BRCA1 | c.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 |
| 17 | g.43091778A>G | CA500232232 | BRCA1 | c.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.=) | |
| 17 | g.43091778A>T | CA002405 | BRCA1 | c.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 |
| 17 | g.43091779C>A | CA10594467 | BRCA1 | c.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.=) | |
| 17 | g.43091779C>G | CA10594468 | BRCA1 | c.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.=) | |
| 17 | g.43091779C>T | CA10584559 | BRCA1 | c.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 |
| 17 | g.43091780A>C | CA10594469 | BRCA1 | c.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.=) | |
| 17 | g.43091780A>G | CA059212 | BRCA1 | c.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 |
| 17 | g.43091780A>T | CA10594470 | BRCA1 | c.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.=) | |
| 17 | g.43091780dup | CA658761216 | BRCA1 | c.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.=) | |
| 17 | g.43091781del | CA10589726 | BRCA1 | c.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 |
| 17 | g.43091781C>A | CA10594471 | BRCA1 | c.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 |
| 17 | g.43091781C>G | CA002403 | BRCA1 | c.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 |
| 17 | g.43091781C>T | CA10580551 | BRCA1 | c.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 |
| 17 | g.43091782T>A | CA10594472 | BRCA1 | c.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.=) | |
| 17 | g.43091782T>C | CA10594473 | BRCA1 | c.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.=) | |
| 17 | g.43091782T>G | CA10594474 | BRCA1 | c.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.=) | |
| 17 | g.43091782_43091783insG | CA658823947 | BRCA1 | c.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 |
| 17 | g.43091783C>A | CA002402 | BRCA1 | c.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 |
| 17 | g.43091783C>G | CA10594475 | BRCA1 | c.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.=) | |
| 17 | g.43091783C>T | CA002401 | BRCA1 | c.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 |
| 17 | g.43091784G>A | CA002400 | BRCA1 | c.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 |