| 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.43091556_43091583dup | CA891842294 | BRCA1 | c.3949_3976dup (p.His1326LeufsTer13) c.3808_3835dup (p.His1279LeufsTer13) c.788-550_788-523dup (p.=) n.4085_4112dup n.4126_4153dup c.671-550_671-523dup (p.=) c.*3732_*3759dup (p.=) n.243_270dup c.785-550_785-523dup (p.=) n.410-550_410-523dup (p.=) n.413-550_413-523dup (p.=) c.647-550_647-523dup (p.=) c.5-27631_5-27604dup (p.=) c.-43-17061_-43-17034dup (p.=) c.-99+33689_-99+33716dup (p.=) | ClinVar dbSNP |
| 17 | g.43091581_43091584del | CA10589712 | BRCA1 | c.3944_3947del (p.Phe1316Ter) c.3803_3806del (p.Phe1269Ter) c.788-555_788-552del (p.=) n.4080_4083del n.4121_4124del c.671-555_671-552del (p.=) c.*3727_*3730del (p.=) n.238_241del c.785-555_785-552del (p.=) n.410-555_410-552del (p.=) n.413-555_413-552del (p.=) c.647-555_647-552del (p.=) c.5-27636_5-27633del (p.=) c.-43-17066_-43-17063del (p.=) c.-99+33684_-99+33687del (p.=) | ClinVar dbSNP |
| 17 | g.43091583del | CA919844492 | BRCA1 | c.3948del (p.Leu1317Ter) c.3807del (p.Leu1270Ter) c.788-551del (p.=) n.4084del n.4125del c.671-551del (p.=) c.*3731del (p.=) n.242del c.785-551del (p.=) n.410-551del (p.=) n.413-551del (p.=) c.647-551del (p.=) c.5-27632del (p.=) c.-43-17062del (p.=) c.-99+33688del (p.=) | dbSNP |
| 17 | g.43091583G>A | CA500232108 | BRCA1 | c.3948C>T (p.Phe1316=) c.3807C>T (p.Phe1269=) c.788-551C>T (p.=) n.4084C>T n.4125C>T c.671-551C>T (p.=) c.*3731C>T (p.=) n.242C>T c.785-551C>T (p.=) n.410-551C>T (p.=) n.413-551C>T (p.=) c.647-551C>T (p.=) c.5-27632C>T (p.=) c.-43-17062C>T (p.=) c.-99+33688C>T (p.=) | |
| 17 | g.43091583G>C | CA10594065 | BRCA1 | c.3948C>G (p.Phe1316Leu) c.3807C>G (p.Phe1269Leu) c.788-551C>G (p.=) n.4084C>G n.4125C>G c.671-551C>G (p.=) c.*3731C>G (p.=) n.242C>G c.785-551C>G (p.=) n.410-551C>G (p.=) n.413-551C>G (p.=) c.647-551C>G (p.=) c.5-27632C>G (p.=) c.-43-17062C>G (p.=) c.-99+33688C>G (p.=) | |
| 17 | g.43091583G>T | CA10594066 | BRCA1 | c.3948C>A (p.Phe1316Leu) c.3807C>A (p.Phe1269Leu) c.788-551C>A (p.=) n.4084C>A n.4125C>A c.671-551C>A (p.=) c.*3731C>A (p.=) n.242C>A c.785-551C>A (p.=) n.410-551C>A (p.=) n.413-551C>A (p.=) c.647-551C>A (p.=) c.5-27632C>A (p.=) c.-43-17062C>A (p.=) c.-99+33688C>A (p.=) | |
| 17 | g.43091584A>C | CA10594067 | BRCA1 | c.3947T>G (p.Phe1316Cys) c.3806T>G (p.Phe1269Cys) c.788-552T>G (p.=) n.4083T>G n.4124T>G c.671-552T>G (p.=) c.*3730T>G (p.=) n.241T>G c.785-552T>G (p.=) n.410-552T>G (p.=) n.413-552T>G (p.=) c.647-552T>G (p.=) c.5-27633T>G (p.=) c.-43-17063T>G (p.=) c.-99+33687T>G (p.=) | |
| 17 | g.43091584A>G | CA10594068 | BRCA1 | c.3947T>C (p.Phe1316Ser) c.3806T>C (p.Phe1269Ser) c.788-552T>C (p.=) n.4083T>C n.4124T>C c.671-552T>C (p.=) c.*3730T>C (p.=) n.241T>C c.785-552T>C (p.=) n.410-552T>C (p.=) n.413-552T>C (p.=) c.647-552T>C (p.=) c.5-27633T>C (p.=) c.-43-17063T>C (p.=) c.-99+33687T>C (p.=) | |
| 17 | g.43091584A>T | CA10594069 | BRCA1 | c.3947T>A (p.Phe1316Tyr) c.3806T>A (p.Phe1269Tyr) c.788-552T>A (p.=) n.4083T>A n.4124T>A c.671-552T>A (p.=) c.*3730T>A (p.=) n.241T>A c.785-552T>A (p.=) n.410-552T>A (p.=) n.413-552T>A (p.=) c.647-552T>A (p.=) c.5-27633T>A (p.=) c.-43-17063T>A (p.=) c.-99+33687T>A (p.=) | |
| 17 | g.43091585A>C | CA10594070 | BRCA1 | c.3946T>G (p.Phe1316Val) c.3805T>G (p.Phe1269Val) c.788-553T>G (p.=) n.4082T>G n.4123T>G c.671-553T>G (p.=) c.*3729T>G (p.=) n.240T>G c.785-553T>G (p.=) n.410-553T>G (p.=) n.413-553T>G (p.=) c.647-553T>G (p.=) c.5-27634T>G (p.=) c.-43-17064T>G (p.=) c.-99+33686T>G (p.=) | |
| 17 | g.43091585A>G | CA10594071 | BRCA1 | c.3946T>C (p.Phe1316Leu) c.3805T>C (p.Phe1269Leu) c.788-553T>C (p.=) n.4082T>C n.4123T>C c.671-553T>C (p.=) c.*3729T>C (p.=) n.240T>C c.785-553T>C (p.=) n.410-553T>C (p.=) n.413-553T>C (p.=) c.647-553T>C (p.=) c.5-27634T>C (p.=) c.-43-17064T>C (p.=) c.-99+33686T>C (p.=) | |
| 17 | g.43091585A>T | CA10594072 | BRCA1 | c.3946T>A (p.Phe1316Ile) c.3805T>A (p.Phe1269Ile) c.788-553T>A (p.=) n.4082T>A n.4123T>A c.671-553T>A (p.=) c.*3729T>A (p.=) n.240T>A c.785-553T>A (p.=) n.410-553T>A (p.=) n.413-553T>A (p.=) c.647-553T>A (p.=) c.5-27634T>A (p.=) c.-43-17064T>A (p.=) c.-99+33686T>A (p.=) | |
| 17 | g.43091586A>C | CA500232109 | BRCA1 | c.3945T>G (p.Pro1315=) c.3804T>G (p.Pro1268=) c.788-554T>G (p.=) n.4081T>G n.4122T>G c.671-554T>G (p.=) c.*3728T>G (p.=) n.239T>G c.785-554T>G (p.=) n.410-554T>G (p.=) n.413-554T>G (p.=) c.647-554T>G (p.=) c.5-27635T>G (p.=) c.-43-17065T>G (p.=) c.-99+33685T>G (p.=) | |
| 17 | g.43091586A>G | CA500232110 | BRCA1 | c.3945T>C (p.Pro1315=) c.3804T>C (p.Pro1268=) c.788-554T>C (p.=) n.4081T>C n.4122T>C c.671-554T>C (p.=) c.*3728T>C (p.=) n.239T>C c.785-554T>C (p.=) n.410-554T>C (p.=) n.413-554T>C (p.=) c.647-554T>C (p.=) c.5-27635T>C (p.=) c.-43-17065T>C (p.=) c.-99+33685T>C (p.=) | |
| 17 | g.43091586A>T | CA500232111 | BRCA1 | c.3945T>A (p.Pro1315=) c.3804T>A (p.Pro1268=) c.788-554T>A (p.=) n.4081T>A n.4122T>A c.671-554T>A (p.=) c.*3728T>A (p.=) n.239T>A c.785-554T>A (p.=) n.410-554T>A (p.=) n.413-554T>A (p.=) c.647-554T>A (p.=) c.5-27635T>A (p.=) c.-43-17065T>A (p.=) c.-99+33685T>A (p.=) | |
| 17 | g.43091587G>A | CA10594073 | BRCA1 | c.3944C>T (p.Pro1315Leu) c.3803C>T (p.Pro1268Leu) c.788-555C>T (p.=) n.4080C>T n.4121C>T c.671-555C>T (p.=) c.*3727C>T (p.=) n.238C>T c.785-555C>T (p.=) n.410-555C>T (p.=) n.413-555C>T (p.=) c.647-555C>T (p.=) c.5-27636C>T (p.=) c.-43-17066C>T (p.=) c.-99+33684C>T (p.=) | |
| 17 | g.43091587G>C | CA002530 | BRCA1 | c.3944C>G (p.Pro1315Arg) c.3803C>G (p.Pro1268Arg) c.788-555C>G (p.=) n.4080C>G n.4121C>G c.671-555C>G (p.=) c.*3727C>G (p.=) n.238C>G c.785-555C>G (p.=) n.410-555C>G (p.=) n.413-555C>G (p.=) c.647-555C>G (p.=) c.5-27636C>G (p.=) c.-43-17066C>G (p.=) c.-99+33684C>G (p.=) | ClinVar dbSNP gnomAD |
| 17 | g.43091587G>T | CA002529 | BRCA1 | c.3944C>A (p.Pro1315His) c.3803C>A (p.Pro1268His) c.788-555C>A (p.=) n.4080C>A n.4121C>A c.671-555C>A (p.=) c.*3727C>A (p.=) n.238C>A c.785-555C>A (p.=) n.410-555C>A (p.=) n.413-555C>A (p.=) c.647-555C>A (p.=) c.5-27636C>A (p.=) c.-43-17066C>A (p.=) c.-99+33684C>A (p.=) | ClinVar dbSNP |
| 17 | g.43091588G>A | CA10594074 | BRCA1 | c.3943C>T (p.Pro1315Ser) c.3802C>T (p.Pro1268Ser) c.788-556C>T (p.=) n.4079C>T n.4120C>T c.671-556C>T (p.=) c.*3726C>T (p.=) n.237C>T c.785-556C>T (p.=) n.410-556C>T (p.=) n.413-556C>T (p.=) c.647-556C>T (p.=) c.5-27637C>T (p.=) c.-43-17067C>T (p.=) c.-99+33683C>T (p.=) | |
| 17 | g.43091588G>C | CA10594075 | BRCA1 | c.3943C>G (p.Pro1315Ala) c.3802C>G (p.Pro1268Ala) c.788-556C>G (p.=) n.4079C>G n.4120C>G c.671-556C>G (p.=) c.*3726C>G (p.=) n.237C>G c.785-556C>G (p.=) n.410-556C>G (p.=) n.413-556C>G (p.=) c.647-556C>G (p.=) c.5-27637C>G (p.=) c.-43-17067C>G (p.=) c.-99+33683C>G (p.=) | |
| 17 | g.43091588G>T | CA10594076 | BRCA1 | c.3943C>A (p.Pro1315Thr) c.3802C>A (p.Pro1268Thr) c.788-556C>A (p.=) n.4079C>A n.4120C>A c.671-556C>A (p.=) c.*3726C>A (p.=) n.237C>A c.785-556C>A (p.=) n.410-556C>A (p.=) n.413-556C>A (p.=) c.647-556C>A (p.=) c.5-27637C>A (p.=) c.-43-17067C>A (p.=) c.-99+33683C>A (p.=) | |
| 17 | g.43091589A>C | CA10594077 | BRCA1 | c.3942T>G (p.Asp1314Glu) c.3801T>G (p.Asp1267Glu) c.788-557T>G (p.=) n.4078T>G n.4119T>G c.671-557T>G (p.=) c.*3725T>G (p.=) n.236T>G c.785-557T>G (p.=) n.410-557T>G (p.=) n.413-557T>G (p.=) c.647-557T>G (p.=) c.5-27638T>G (p.=) c.-43-17068T>G (p.=) c.-99+33682T>G (p.=) | |
| 17 | g.43091589A>G | CA500232112 | BRCA1 | c.3942T>C (p.Asp1314=) c.3801T>C (p.Asp1267=) c.788-557T>C (p.=) n.4078T>C n.4119T>C c.671-557T>C (p.=) c.*3725T>C (p.=) n.236T>C c.785-557T>C (p.=) n.410-557T>C (p.=) n.413-557T>C (p.=) c.647-557T>C (p.=) c.5-27638T>C (p.=) c.-43-17068T>C (p.=) c.-99+33682T>C (p.=) | |
| 17 | g.43091589A>T | CA10594078 | BRCA1 | c.3942T>A (p.Asp1314Glu) c.3801T>A (p.Asp1267Glu) c.788-557T>A (p.=) n.4078T>A n.4119T>A c.671-557T>A (p.=) c.*3725T>A (p.=) n.236T>A c.785-557T>A (p.=) n.410-557T>A (p.=) n.413-557T>A (p.=) c.647-557T>A (p.=) c.5-27638T>A (p.=) c.-43-17068T>A (p.=) c.-99+33682T>A (p.=) | |
| 17 | g.43091590T>A | CA059098 | BRCA1 | c.3941A>T (p.Asp1314Val) c.3800A>T (p.Asp1267Val) c.788-558A>T (p.=) n.4077A>T n.4118A>T c.671-558A>T (p.=) c.*3724A>T (p.=) n.235A>T c.785-558A>T (p.=) n.410-558A>T (p.=) n.413-558A>T (p.=) c.647-558A>T (p.=) c.5-27639A>T (p.=) c.-43-17069A>T (p.=) c.-99+33681A>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43091590T>C | CA10594079 | BRCA1 | c.3941A>G (p.Asp1314Gly) c.3800A>G (p.Asp1267Gly) c.788-558A>G (p.=) n.4077A>G n.4118A>G c.671-558A>G (p.=) c.*3724A>G (p.=) n.235A>G c.785-558A>G (p.=) n.410-558A>G (p.=) n.413-558A>G (p.=) c.647-558A>G (p.=) c.5-27639A>G (p.=) c.-43-17069A>G (p.=) c.-99+33681A>G (p.=) | |
| 17 | g.43091590T>G | CA10594080 | BRCA1 | c.3941A>C (p.Asp1314Ala) c.3800A>C (p.Asp1267Ala) c.788-558A>C (p.=) n.4077A>C n.4118A>C c.671-558A>C (p.=) c.*3724A>C (p.=) n.235A>C c.785-558A>C (p.=) n.410-558A>C (p.=) n.413-558A>C (p.=) c.647-558A>C (p.=) c.5-27639A>C (p.=) c.-43-17069A>C (p.=) c.-99+33681A>C (p.=) | |
| 17 | g.43091591C>A | CA10594081 | BRCA1 | c.3940G>T (p.Asp1314Tyr) c.3799G>T (p.Asp1267Tyr) c.788-559G>T (p.=) n.4076G>T n.4117G>T c.671-559G>T (p.=) c.*3723G>T (p.=) n.234G>T c.785-559G>T (p.=) n.410-559G>T (p.=) n.413-559G>T (p.=) c.647-559G>T (p.=) c.5-27640G>T (p.=) c.-43-17070G>T (p.=) c.-99+33680G>T (p.=) | |
| 17 | g.43091591C>G | CA10594082 | BRCA1 | c.3940G>C (p.Asp1314His) c.3799G>C (p.Asp1267His) c.788-559G>C (p.=) n.4076G>C n.4117G>C c.671-559G>C (p.=) c.*3723G>C (p.=) n.234G>C c.785-559G>C (p.=) n.410-559G>C (p.=) n.413-559G>C (p.=) c.647-559G>C (p.=) c.5-27640G>C (p.=) c.-43-17070G>C (p.=) c.-99+33680G>C (p.=) | |
| 17 | g.43091591C>T | CA002528 | BRCA1 | c.3940G>A (p.Asp1314Asn) c.3799G>A (p.Asp1267Asn) c.788-559G>A (p.=) n.4076G>A n.4117G>A c.671-559G>A (p.=) c.*3723G>A (p.=) n.234G>A c.785-559G>A (p.=) n.410-559G>A (p.=) n.413-559G>A (p.=) c.647-559G>A (p.=) c.5-27640G>A (p.=) c.-43-17070G>A (p.=) c.-99+33680G>A (p.=) | ClinVar dbSNP |
| 17 | g.43091592C>A | CA10594083 | BRCA1 | c.3939G>T (p.Gln1313His) c.3798G>T (p.Gln1266His) c.788-560G>T (p.=) n.4075G>T n.4116G>T c.671-560G>T (p.=) c.*3722G>T (p.=) n.233G>T c.785-560G>T (p.=) n.410-560G>T (p.=) n.413-560G>T (p.=) c.647-560G>T (p.=) c.5-27641G>T (p.=) c.-43-17071G>T (p.=) c.-99+33679G>T (p.=) | |
| 17 | g.43091592C>G | CA10594084 | BRCA1 | c.3939G>C (p.Gln1313His) c.3798G>C (p.Gln1266His) c.788-560G>C (p.=) n.4075G>C n.4116G>C c.671-560G>C (p.=) c.*3722G>C (p.=) n.233G>C c.785-560G>C (p.=) n.410-560G>C (p.=) n.413-560G>C (p.=) c.647-560G>C (p.=) c.5-27641G>C (p.=) c.-43-17071G>C (p.=) c.-99+33679G>C (p.=) | |
| 17 | g.43091592C>T | CA500232113 | BRCA1 | c.3939G>A (p.Gln1313=) c.3798G>A (p.Gln1266=) c.788-560G>A (p.=) n.4075G>A n.4116G>A c.671-560G>A (p.=) c.*3722G>A (p.=) n.233G>A c.785-560G>A (p.=) n.410-560G>A (p.=) n.413-560G>A (p.=) c.647-560G>A (p.=) c.5-27641G>A (p.=) c.-43-17071G>A (p.=) c.-99+33679G>A (p.=) | |
| 17 | g.43091593T>A | CA10594085 | BRCA1 | c.3938A>T (p.Gln1313Leu) c.3797A>T (p.Gln1266Leu) c.788-561A>T (p.=) n.4074A>T n.4115A>T c.671-561A>T (p.=) c.*3721A>T (p.=) n.232A>T c.785-561A>T (p.=) n.410-561A>T (p.=) n.413-561A>T (p.=) c.647-561A>T (p.=) c.5-27642A>T (p.=) c.-43-17072A>T (p.=) c.-99+33678A>T (p.=) | |
| 17 | g.43091593T>C | CA059105 | BRCA1 | c.3938A>G (p.Gln1313Arg) c.3797A>G (p.Gln1266Arg) c.788-561A>G (p.=) n.4074A>G n.4115A>G c.671-561A>G (p.=) c.*3721A>G (p.=) n.232A>G c.785-561A>G (p.=) n.410-561A>G (p.=) n.413-561A>G (p.=) c.647-561A>G (p.=) c.5-27642A>G (p.=) c.-43-17072A>G (p.=) c.-99+33678A>G (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43091593T>G | CA10594086 | BRCA1 | c.3938A>C (p.Gln1313Pro) c.3797A>C (p.Gln1266Pro) c.788-561A>C (p.=) n.4074A>C n.4115A>C c.671-561A>C (p.=) c.*3721A>C (p.=) n.232A>C c.785-561A>C (p.=) n.410-561A>C (p.=) n.413-561A>C (p.=) c.647-561A>C (p.=) c.5-27642A>C (p.=) c.-43-17072A>C (p.=) c.-99+33678A>C (p.=) | |
| 17 | g.43091594G>A | CA002527 | BRCA1 | c.3937C>T (p.Gln1313Ter) c.3796C>T (p.Gln1266Ter) c.788-562C>T (p.=) n.4073C>T n.4114C>T c.671-562C>T (p.=) c.*3720C>T (p.=) n.231C>T c.785-562C>T (p.=) n.410-562C>T (p.=) n.413-562C>T (p.=) c.647-562C>T (p.=) c.5-27643C>T (p.=) c.-43-17073C>T (p.=) c.-99+33677C>T (p.=) | ClinVar dbSNP |
| 17 | g.43091594G>C | CA10594087 | BRCA1 | c.3937C>G (p.Gln1313Glu) c.3796C>G (p.Gln1266Glu) c.788-562C>G (p.=) n.4073C>G n.4114C>G c.671-562C>G (p.=) c.*3720C>G (p.=) n.231C>G c.785-562C>G (p.=) n.410-562C>G (p.=) n.413-562C>G (p.=) c.647-562C>G (p.=) c.5-27643C>G (p.=) c.-43-17073C>G (p.=) c.-99+33677C>G (p.=) | |
| 17 | g.43091594G>T | CA10594088 | BRCA1 | c.3937C>A (p.Gln1313Lys) c.3796C>A (p.Gln1266Lys) c.788-562C>A (p.=) n.4073C>A n.4114C>A c.671-562C>A (p.=) c.*3720C>A (p.=) n.231C>A c.785-562C>A (p.=) n.410-562C>A (p.=) n.413-562C>A (p.=) c.647-562C>A (p.=) c.5-27643C>A (p.=) c.-43-17073C>A (p.=) c.-99+33677C>A (p.=) | |
| 17 | g.43091595G>A | CA059110 | BRCA1 | c.3936C>T (p.Thr1312=) c.3795C>T (p.Thr1265=) c.788-563C>T (p.=) n.4072C>T n.4113C>T c.671-563C>T (p.=) c.*3719C>T (p.=) n.230C>T c.785-563C>T (p.=) n.410-563C>T (p.=) n.413-563C>T (p.=) c.647-563C>T (p.=) c.5-27644C>T (p.=) c.-43-17074C>T (p.=) c.-99+33676C>T (p.=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43091595G>C | CA500232114 | BRCA1 | c.3936C>G (p.Thr1312=) c.3795C>G (p.Thr1265=) c.788-563C>G (p.=) n.4072C>G n.4113C>G c.671-563C>G (p.=) c.*3719C>G (p.=) n.230C>G c.785-563C>G (p.=) n.410-563C>G (p.=) n.413-563C>G (p.=) c.647-563C>G (p.=) c.5-27644C>G (p.=) c.-43-17074C>G (p.=) c.-99+33676C>G (p.=) | |
| 17 | g.43091595G>T | CA500232115 | BRCA1 | c.3936C>A (p.Thr1312=) c.3795C>A (p.Thr1265=) c.788-563C>A (p.=) n.4072C>A n.4113C>A c.671-563C>A (p.=) c.*3719C>A (p.=) n.230C>A c.785-563C>A (p.=) n.410-563C>A (p.=) n.413-563C>A (p.=) c.647-563C>A (p.=) c.5-27644C>A (p.=) c.-43-17074C>A (p.=) c.-99+33676C>A (p.=) | |
| 17 | g.43091596G>A | CA10594089 | BRCA1 | c.3935C>T (p.Thr1312Ile) c.3794C>T (p.Thr1265Ile) c.788-564C>T (p.=) n.4071C>T n.4112C>T c.671-564C>T (p.=) c.*3718C>T (p.=) n.229C>T c.785-564C>T (p.=) n.410-564C>T (p.=) n.413-564C>T (p.=) c.647-564C>T (p.=) c.5-27645C>T (p.=) c.-43-17075C>T (p.=) c.-99+33675C>T (p.=) | |
| 17 | g.43091596G>C | CA10594090 | BRCA1 | c.3935C>G (p.Thr1312Ser) c.3794C>G (p.Thr1265Ser) c.788-564C>G (p.=) n.4071C>G n.4112C>G c.671-564C>G (p.=) c.*3718C>G (p.=) n.229C>G c.785-564C>G (p.=) n.410-564C>G (p.=) n.413-564C>G (p.=) c.647-564C>G (p.=) c.5-27645C>G (p.=) c.-43-17075C>G (p.=) c.-99+33675C>G (p.=) | ClinVar |
| 17 | g.43091596G>T | CA10594091 | BRCA1 | c.3935C>A (p.Thr1312Asn) c.3794C>A (p.Thr1265Asn) c.788-564C>A (p.=) n.4071C>A n.4112C>A c.671-564C>A (p.=) c.*3718C>A (p.=) n.229C>A c.785-564C>A (p.=) n.410-564C>A (p.=) n.413-564C>A (p.=) c.647-564C>A (p.=) c.5-27645C>A (p.=) c.-43-17075C>A (p.=) c.-99+33675C>A (p.=) | |
| 17 | g.43091597T>A | CA10594092 | BRCA1 | c.3934A>T (p.Thr1312Ser) c.3793A>T (p.Thr1265Ser) c.788-565A>T (p.=) n.4070A>T n.4111A>T c.671-565A>T (p.=) c.*3717A>T (p.=) n.228A>T c.785-565A>T (p.=) n.410-565A>T (p.=) n.413-565A>T (p.=) c.647-565A>T (p.=) c.5-27646A>T (p.=) c.-43-17076A>T (p.=) c.-99+33674A>T (p.=) | |
| 17 | g.43091597T>C | CA10594093 | BRCA1 | c.3934A>G (p.Thr1312Ala) c.3793A>G (p.Thr1265Ala) c.788-565A>G (p.=) n.4070A>G n.4111A>G c.671-565A>G (p.=) c.*3717A>G (p.=) n.228A>G c.785-565A>G (p.=) n.410-565A>G (p.=) n.413-565A>G (p.=) c.647-565A>G (p.=) c.5-27646A>G (p.=) c.-43-17076A>G (p.=) c.-99+33674A>G (p.=) | dbSNP |
| 17 | g.43091597T>G | CA10594094 | BRCA1 | c.3934A>C (p.Thr1312Pro) c.3793A>C (p.Thr1265Pro) c.788-565A>C (p.=) n.4070A>C n.4111A>C c.671-565A>C (p.=) c.*3717A>C (p.=) n.228A>C c.785-565A>C (p.=) n.410-565A>C (p.=) n.413-565A>C (p.=) c.647-565A>C (p.=) c.5-27646A>C (p.=) c.-43-17076A>C (p.=) c.-99+33674A>C (p.=) | |
| 17 | g.43091600_43091603dup | CA10580543 | BRCA1 | c.3931_3934dup (p.Thr1312LysfsTer19) c.3790_3793dup (p.Thr1265LysfsTer19) c.788-568_788-565dup (p.=) n.4067_4070dup n.4108_4111dup c.671-568_671-565dup (p.=) c.*3714_*3717dup (p.=) n.225_228dup c.785-568_785-565dup (p.=) n.410-568_410-565dup (p.=) n.413-568_413-565dup (p.=) c.647-568_647-565dup (p.=) c.5-27649_5-27646dup (p.=) c.-43-17079_-43-17076dup (p.=) c.-99+33671_-99+33674dup (p.=) | ClinVar dbSNP dbSNP |