| 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.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.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.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.43091779_43091782del | CA1139665614 | BRCA1 | c.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 |
| 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 |
| 17 | g.43091784G>C | CA500232239 | BRCA1 | c.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 |
| 17 | g.43091784G>T | CA290834605 | BRCA1 | c.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 |
| 17 | g.43091785dup | CA645373175 | BRCA1 | c.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 |
| 17 | g.43091784_43091817del | CA10586619 | BRCA1 | c.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 |
| 17 | g.43091784_43091826dup | CA274940 | BRCA1 | c.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 |
| 17 | g.43091785G>A | CA10594476 | BRCA1 | c.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.=) | |
| 17 | g.43091785G>C | CA002399 | BRCA1 | c.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 |
| 17 | g.43091785G>T | CA10594477 | BRCA1 | c.3746C>A (p.Thr1249Asn) c.3605C>A (p.Thr1202Asn) c.788-753C>A (p.=) n.3882C>A n.3923C>A c.671-753C>A (p.=) c.*3529C>A (p.=) n.40C>A c.785-753C>A (p.=) n.410-753C>A (p.=) n.413-753C>A (p.=) c.647-753C>A (p.=) c.5-27834C>A (p.=) c.-43-17264C>A (p.=) c.-99+33486C>A (p.=) | |
| 17 | g.43091786T>A | CA10594478 | BRCA1 | c.3745A>T (p.Thr1249Ser) c.3604A>T (p.Thr1202Ser) c.788-754A>T (p.=) n.3881A>T n.3922A>T c.671-754A>T (p.=) c.*3528A>T (p.=) n.39A>T c.785-754A>T (p.=) n.410-754A>T (p.=) n.413-754A>T (p.=) c.647-754A>T (p.=) c.5-27835A>T (p.=) c.-43-17265A>T (p.=) c.-99+33485A>T (p.=) | |
| 17 | g.43091786T>C | CA10594479 | BRCA1 | c.3745A>G (p.Thr1249Ala) c.3604A>G (p.Thr1202Ala) c.788-754A>G (p.=) n.3881A>G n.3922A>G c.671-754A>G (p.=) c.*3528A>G (p.=) n.39A>G c.785-754A>G (p.=) n.410-754A>G (p.=) n.413-754A>G (p.=) c.647-754A>G (p.=) c.5-27835A>G (p.=) c.-43-17265A>G (p.=) c.-99+33485A>G (p.=) | ClinVar |
| 17 | g.43091786T>G | CA063315 | BRCA1 | c.3745A>C (p.Thr1249Pro) c.3604A>C (p.Thr1202Pro) c.788-754A>C (p.=) n.3881A>C n.3922A>C c.671-754A>C (p.=) c.*3528A>C (p.=) n.39A>C c.785-754A>C (p.=) n.410-754A>C (p.=) n.413-754A>C (p.=) c.647-754A>C (p.=) c.5-27835A>C (p.=) c.-43-17265A>C (p.=) c.-99+33485A>C (p.=) | COSMIC COSMIC |
| 17 | g.43091787A>C | CA500232244 | BRCA1 | c.3744T>G (p.Ala1248=) c.3603T>G (p.Ala1201=) c.788-755T>G (p.=) n.3880T>G n.3921T>G c.671-755T>G (p.=) c.*3527T>G (p.=) n.38T>G c.785-755T>G (p.=) n.410-755T>G (p.=) n.413-755T>G (p.=) c.647-755T>G (p.=) c.5-27836T>G (p.=) c.-43-17266T>G (p.=) c.-99+33484T>G (p.=) | |
| 17 | g.43091787A>G | CA500232242 | BRCA1 | c.3744T>C (p.Ala1248=) c.3603T>C (p.Ala1201=) c.788-755T>C (p.=) n.3880T>C n.3921T>C c.671-755T>C (p.=) c.*3527T>C (p.=) n.38T>C c.785-755T>C (p.=) n.410-755T>C (p.=) n.413-755T>C (p.=) c.647-755T>C (p.=) c.5-27836T>C (p.=) c.-43-17266T>C (p.=) c.-99+33484T>C (p.=) | |
| 17 | g.43091787A>T | CA500232243 | BRCA1 | c.3744T>A (p.Ala1248=) c.3603T>A (p.Ala1201=) c.788-755T>A (p.=) n.3880T>A n.3921T>A c.671-755T>A (p.=) c.*3527T>A (p.=) n.38T>A c.785-755T>A (p.=) n.410-755T>A (p.=) n.413-755T>A (p.=) c.647-755T>A (p.=) c.5-27836T>A (p.=) c.-43-17266T>A (p.=) c.-99+33484T>A (p.=) | ClinVar |
| 17 | g.43091788G>A | CA10594480 | BRCA1 | c.3743C>T (p.Ala1248Val) c.3602C>T (p.Ala1201Val) c.788-756C>T (p.=) n.3879C>T n.3920C>T c.671-756C>T (p.=) c.*3526C>T (p.=) n.37C>T c.785-756C>T (p.=) n.410-756C>T (p.=) n.413-756C>T (p.=) c.647-756C>T (p.=) c.5-27837C>T (p.=) c.-43-17267C>T (p.=) c.-99+33483C>T (p.=) | gnomAD |
| 17 | g.43091788G>C | CA10594481 | BRCA1 | c.3743C>G (p.Ala1248Gly) c.3602C>G (p.Ala1201Gly) c.788-756C>G (p.=) n.3879C>G n.3920C>G c.671-756C>G (p.=) c.*3526C>G (p.=) n.37C>G c.785-756C>G (p.=) n.410-756C>G (p.=) n.413-756C>G (p.=) c.647-756C>G (p.=) c.5-27837C>G (p.=) c.-43-17267C>G (p.=) c.-99+33483C>G (p.=) | |
| 17 | g.43091788G>T | CA10594482 | BRCA1 | c.3743C>A (p.Ala1248Asp) c.3602C>A (p.Ala1201Asp) c.788-756C>A (p.=) n.3879C>A n.3920C>A c.671-756C>A (p.=) c.*3526C>A (p.=) n.37C>A c.785-756C>A (p.=) n.410-756C>A (p.=) n.413-756C>A (p.=) c.647-756C>A (p.=) c.5-27837C>A (p.=) c.-43-17267C>A (p.=) c.-99+33483C>A (p.=) | |
| 17 | g.43091788_43091800del | CA10589727 | BRCA1 | c.3729_3741del (p.His1244LeufsTer16) c.3588_3600del (p.His1197LeufsTer16) c.788-770_788-758del (p.=) n.3865_3877del n.3906_3918del c.671-770_671-758del (p.=) c.*3512_*3524del (p.=) n.23_35del c.785-770_785-758del (p.=) n.410-770_410-758del (p.=) n.413-770_413-758del (p.=) c.647-770_647-758del (p.=) c.5-27851_5-27839del (p.=) c.-43-17281_-43-17269del (p.=) c.-99+33469_-99+33481del (p.=) | ClinVar dbSNP |
| 17 | g.43091789C>A | CA10594483 | BRCA1 | c.3742G>T (p.Ala1248Ser) c.3601G>T (p.Ala1201Ser) c.788-757G>T (p.=) n.3878G>T n.3919G>T c.671-757G>T (p.=) c.*3525G>T (p.=) n.36G>T c.785-757G>T (p.=) n.410-757G>T (p.=) n.413-757G>T (p.=) c.647-757G>T (p.=) c.5-27838G>T (p.=) c.-43-17268G>T (p.=) c.-99+33482G>T (p.=) | |
| 17 | g.43091789C>G | CA10594484 | BRCA1 | c.3742G>C (p.Ala1248Pro) c.3601G>C (p.Ala1201Pro) c.788-757G>C (p.=) n.3878G>C n.3919G>C c.671-757G>C (p.=) c.*3525G>C (p.=) n.36G>C c.785-757G>C (p.=) n.410-757G>C (p.=) n.413-757G>C (p.=) c.647-757G>C (p.=) c.5-27838G>C (p.=) c.-43-17268G>C (p.=) c.-99+33482G>C (p.=) | |
| 17 | g.43091789C>T | CA10594485 | BRCA1 | c.3742G>A (p.Ala1248Thr) c.3601G>A (p.Ala1201Thr) c.788-757G>A (p.=) n.3878G>A n.3919G>A c.671-757G>A (p.=) c.*3525G>A (p.=) n.36G>A c.785-757G>A (p.=) n.410-757G>A (p.=) n.413-757G>A (p.=) c.647-757G>A (p.=) c.5-27838G>A (p.=) c.-43-17268G>A (p.=) c.-99+33482G>A (p.=) | |
| 17 | g.43091790A>C | CA500232248 | BRCA1 | c.3741T>G (p.Val1247=) c.3600T>G (p.Val1200=) c.788-758T>G (p.=) n.3877T>G n.3918T>G c.671-758T>G (p.=) c.*3524T>G (p.=) n.35T>G c.785-758T>G (p.=) n.410-758T>G (p.=) n.413-758T>G (p.=) c.647-758T>G (p.=) c.5-27839T>G (p.=) c.-43-17269T>G (p.=) c.-99+33481T>G (p.=) | |
| 17 | g.43091790A>G | CA500232249 | BRCA1 | c.3741T>C (p.Val1247=) c.3600T>C (p.Val1200=) c.788-758T>C (p.=) n.3877T>C n.3918T>C c.671-758T>C (p.=) c.*3524T>C (p.=) n.35T>C c.785-758T>C (p.=) n.410-758T>C (p.=) n.413-758T>C (p.=) c.647-758T>C (p.=) c.5-27839T>C (p.=) c.-43-17269T>C (p.=) c.-99+33481T>C (p.=) | |
| 17 | g.43091790A>T | CA500232250 | BRCA1 | c.3741T>A (p.Val1247=) c.3600T>A (p.Val1200=) c.788-758T>A (p.=) n.3877T>A n.3918T>A c.671-758T>A (p.=) c.*3524T>A (p.=) n.35T>A c.785-758T>A (p.=) n.410-758T>A (p.=) n.413-758T>A (p.=) c.647-758T>A (p.=) c.5-27839T>A (p.=) c.-43-17269T>A (p.=) c.-99+33481T>A (p.=) | |
| 17 | g.43091791A>C | CA10594486 | BRCA1 | c.3740T>G (p.Val1247Gly) c.3599T>G (p.Val1200Gly) c.788-759T>G (p.=) n.3876T>G n.3917T>G c.671-759T>G (p.=) c.*3523T>G (p.=) n.34T>G c.785-759T>G (p.=) n.410-759T>G (p.=) n.413-759T>G (p.=) c.647-759T>G (p.=) c.5-27840T>G (p.=) c.-43-17270T>G (p.=) c.-99+33480T>G (p.=) | |
| 17 | g.43091791A>G | CA10594487 | BRCA1 | c.3740T>C (p.Val1247Ala) c.3599T>C (p.Val1200Ala) c.788-759T>C (p.=) n.3876T>C n.3917T>C c.671-759T>C (p.=) c.*3523T>C (p.=) n.34T>C c.785-759T>C (p.=) n.410-759T>C (p.=) n.413-759T>C (p.=) c.647-759T>C (p.=) c.5-27840T>C (p.=) c.-43-17270T>C (p.=) c.-99+33480T>C (p.=) | ClinVar |