| 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.43091576_43091579del | CA10589711 | BRCA1 | c.3949_3952del (p.Ile1318ValfsTer6) c.3808_3811del (p.Ile1271ValfsTer6) c.788-550_788-547del (p.=) n.4085_4088del n.4126_4129del c.671-550_671-547del (p.=) c.*3732_*3735del (p.=) n.243_246del c.785-550_785-547del (p.=) n.410-550_410-547del (p.=) n.413-550_413-547del (p.=) c.647-550_647-547del (p.=) c.5-27631_5-27628del (p.=) c.-43-17061_-43-17058del (p.=) c.-99+33689_-99+33692del (p.=) | ClinVar dbSNP |
| 17 | g.43091578dup | CA658656672 | BRCA1 | c.3954dup (p.Gly1319TrpfsTer11) c.3813dup (p.Gly1272TrpfsTer11) c.788-545dup (p.=) n.4090dup n.4131dup c.671-545dup (p.=) c.*3737dup (p.=) n.248dup c.785-545dup (p.=) n.410-545dup (p.=) n.413-545dup (p.=) c.647-545dup (p.=) c.5-27626dup (p.=) c.-43-17056dup (p.=) c.-99+33694dup (p.=) | ClinVar dbSNP |
| 17 | g.43091577del | CA645373169 | BRCA1 | c.3953del (p.Ile1318MetfsTer7) c.3812del (p.Ile1271MetfsTer7) c.788-546del (p.=) n.4089del n.4130del c.671-546del (p.=) c.*3736del (p.=) n.247del c.785-546del (p.=) n.410-546del (p.=) n.413-546del (p.=) c.647-546del (p.=) c.5-27627del (p.=) c.-43-17057del (p.=) c.-99+33693del (p.=) | ClinVar dbSNP |
| 17 | g.43091578A>C | CA10594053 | BRCA1 | c.3953T>G (p.Ile1318Ser) c.3812T>G (p.Ile1271Ser) c.788-546T>G (p.=) n.4089T>G n.4130T>G c.671-546T>G (p.=) c.*3736T>G (p.=) n.247T>G c.785-546T>G (p.=) n.410-546T>G (p.=) n.413-546T>G (p.=) c.647-546T>G (p.=) c.5-27627T>G (p.=) c.-43-17057T>G (p.=) c.-99+33693T>G (p.=) | |
| 17 | g.43091578A>G | CA10594054 | BRCA1 | c.3953T>C (p.Ile1318Thr) c.3812T>C (p.Ile1271Thr) c.788-546T>C (p.=) n.4089T>C n.4130T>C c.671-546T>C (p.=) c.*3736T>C (p.=) n.247T>C c.785-546T>C (p.=) n.410-546T>C (p.=) n.413-546T>C (p.=) c.647-546T>C (p.=) c.5-27627T>C (p.=) c.-43-17057T>C (p.=) c.-99+33693T>C (p.=) | ClinVar gnomAD COSMIC COSMIC |
| 17 | g.43091578A>T | CA10594055 | BRCA1 | c.3953T>A (p.Ile1318Asn) c.3812T>A (p.Ile1271Asn) c.788-546T>A (p.=) n.4089T>A n.4130T>A c.671-546T>A (p.=) c.*3736T>A (p.=) n.247T>A c.785-546T>A (p.=) n.410-546T>A (p.=) n.413-546T>A (p.=) c.647-546T>A (p.=) c.5-27627T>A (p.=) c.-43-17057T>A (p.=) c.-99+33693T>A (p.=) | |
| 17 | g.43091579T>A | CA10594056 | BRCA1 | c.3952A>T (p.Ile1318Phe) c.3811A>T (p.Ile1271Phe) c.788-547A>T (p.=) n.4088A>T n.4129A>T c.671-547A>T (p.=) c.*3735A>T (p.=) n.246A>T c.785-547A>T (p.=) n.410-547A>T (p.=) n.413-547A>T (p.=) c.647-547A>T (p.=) c.5-27628A>T (p.=) c.-43-17058A>T (p.=) c.-99+33692A>T (p.=) | |
| 17 | g.43091579T>C | CA002531 | BRCA1 | c.3952A>G (p.Ile1318Val) c.3811A>G (p.Ile1271Val) c.788-547A>G (p.=) n.4088A>G n.4129A>G c.671-547A>G (p.=) c.*3735A>G (p.=) n.246A>G c.785-547A>G (p.=) n.410-547A>G (p.=) n.413-547A>G (p.=) c.647-547A>G (p.=) c.5-27628A>G (p.=) c.-43-17058A>G (p.=) c.-99+33692A>G (p.=) | ClinVar dbSNP |
| 17 | g.43091579T>G | CA10594057 | BRCA1 | c.3952A>C (p.Ile1318Leu) c.3811A>C (p.Ile1271Leu) c.788-547A>C (p.=) n.4088A>C n.4129A>C c.671-547A>C (p.=) c.*3735A>C (p.=) n.246A>C c.785-547A>C (p.=) n.410-547A>C (p.=) n.413-547A>C (p.=) c.647-547A>C (p.=) c.5-27628A>C (p.=) c.-43-17058A>C (p.=) c.-99+33692A>C (p.=) | |
| 17 | g.43091580C>A | CA10594058 | BRCA1 | c.3951G>T (p.Leu1317Phe) c.3810G>T (p.Leu1270Phe) c.788-548G>T (p.=) n.4087G>T n.4128G>T c.671-548G>T (p.=) c.*3734G>T (p.=) n.245G>T c.785-548G>T (p.=) n.410-548G>T (p.=) n.413-548G>T (p.=) c.647-548G>T (p.=) c.5-27629G>T (p.=) c.-43-17059G>T (p.=) c.-99+33691G>T (p.=) | |
| 17 | g.43091580C>G | CA10594059 | BRCA1 | c.3951G>C (p.Leu1317Phe) c.3810G>C (p.Leu1270Phe) c.788-548G>C (p.=) n.4087G>C n.4128G>C c.671-548G>C (p.=) c.*3734G>C (p.=) n.245G>C c.785-548G>C (p.=) n.410-548G>C (p.=) n.413-548G>C (p.=) c.647-548G>C (p.=) c.5-27629G>C (p.=) c.-43-17059G>C (p.=) c.-99+33691G>C (p.=) | |
| 17 | g.43091580C>T | CA16615386 | BRCA1 | c.3951G>A (p.Leu1317=) c.3810G>A (p.Leu1270=) c.788-548G>A (p.=) n.4087G>A n.4128G>A c.671-548G>A (p.=) c.*3734G>A (p.=) n.245G>A c.785-548G>A (p.=) n.410-548G>A (p.=) n.413-548G>A (p.=) c.647-548G>A (p.=) c.5-27629G>A (p.=) c.-43-17059G>A (p.=) c.-99+33691G>A (p.=) | ClinVar |
| 17 | g.43091581A>C | CA10594060 | BRCA1 | c.3950T>G (p.Leu1317Trp) c.3809T>G (p.Leu1270Trp) c.788-549T>G (p.=) n.4086T>G n.4127T>G c.671-549T>G (p.=) c.*3733T>G (p.=) n.244T>G c.785-549T>G (p.=) n.410-549T>G (p.=) n.413-549T>G (p.=) c.647-549T>G (p.=) c.5-27630T>G (p.=) c.-43-17060T>G (p.=) c.-99+33690T>G (p.=) | |
| 17 | g.43091581A>G | CA10594061 | BRCA1 | c.3950T>C (p.Leu1317Ser) c.3809T>C (p.Leu1270Ser) c.788-549T>C (p.=) n.4086T>C n.4127T>C c.671-549T>C (p.=) c.*3733T>C (p.=) n.244T>C c.785-549T>C (p.=) n.410-549T>C (p.=) n.413-549T>C (p.=) c.647-549T>C (p.=) c.5-27630T>C (p.=) c.-43-17060T>C (p.=) c.-99+33690T>C (p.=) | |
| 17 | g.43091581A>T | CA10594062 | BRCA1 | c.3950T>A (p.Leu1317Ter) c.3809T>A (p.Leu1270Ter) c.788-549T>A (p.=) n.4086T>A n.4127T>A c.671-549T>A (p.=) c.*3733T>A (p.=) n.244T>A c.785-549T>A (p.=) n.410-549T>A (p.=) n.413-549T>A (p.=) c.647-549T>A (p.=) c.5-27630T>A (p.=) c.-43-17060T>A (p.=) c.-99+33690T>A (p.=) | |
| 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.43091582A>C | CA10594063 | BRCA1 | c.3949T>G (p.Leu1317Val) c.3808T>G (p.Leu1270Val) c.788-550T>G (p.=) n.4085T>G n.4126T>G c.671-550T>G (p.=) c.*3732T>G (p.=) n.243T>G c.785-550T>G (p.=) n.410-550T>G (p.=) n.413-550T>G (p.=) c.647-550T>G (p.=) c.5-27631T>G (p.=) c.-43-17061T>G (p.=) c.-99+33689T>G (p.=) | |
| 17 | g.43091582A>G | CA500232107 | BRCA1 | c.3949T>C (p.Leu1317=) c.3808T>C (p.Leu1270=) c.788-550T>C (p.=) n.4085T>C n.4126T>C c.671-550T>C (p.=) c.*3732T>C (p.=) n.243T>C c.785-550T>C (p.=) n.410-550T>C (p.=) n.413-550T>C (p.=) c.647-550T>C (p.=) c.5-27631T>C (p.=) c.-43-17061T>C (p.=) c.-99+33689T>C (p.=) | |
| 17 | g.43091582A>T | CA10594064 | BRCA1 | c.3949T>A (p.Leu1317Met) c.3808T>A (p.Leu1270Met) c.788-550T>A (p.=) n.4085T>A n.4126T>A c.671-550T>A (p.=) c.*3732T>A (p.=) n.243T>A c.785-550T>A (p.=) n.410-550T>A (p.=) n.413-550T>A (p.=) c.647-550T>A (p.=) c.5-27631T>A (p.=) c.-43-17061T>A (p.=) c.-99+33689T>A (p.=) | |
| 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.=) |