INTERRUPTION NOTICE:2020-11-25T06:00:00-0600 — 2020-11-25T08:00:00-0600
There will be a downtime Nov 25 to update Allele Registry services.
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There will be a downtime Nov 25 to update Allele Registry services.
A brief interruption is expected during this window.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093751_43094887del | CA10602596 | BRCA1 | c.671-26_1781del c.530-26_1640del c.671-26_787+994del n.807-26_1917del n.848-26_1958del c.670+960_670+2096del (p.=) n.22-26_1132del c.*454-26_*1564del c.593-26_1703del c.668-26_784+994del n.293-26_409+994del n.296-26_412+994del c.530-26_646+994del c.4+30296_5-29799del (p.=) c.-43-20365_-43-19229del (p.=) c.-99+30385_-99+31521del (p.=) c.548-26_1658del | ClinVar |
| 17 | g.43094518_43094581del | CA003981 | BRCA1 | c.952_1015del (p.His318ArgfsTer2) c.811_874del (p.His271ArgfsTer2) c.787+165_787+228del (p.=) n.1088_1151del n.1129_1192del c.670+1267_670+1330del (p.=) n.303_366del c.*735_*798del (p.=) n.549_612del c.874_937del (p.His292ArgfsTer2) c.784+165_784+228del (p.=) n.409+165_409+228del (p.=) n.412+165_412+228del (p.=) c.*888_*951del (p.=) c.646+165_646+228del (p.=) c.64_127del (p.His22ArgfsTer2) c.4+30603_5-30565del (p.=) c.-43-20058_-43-19995del (p.=) c.-99+30692_-99+30755del (p.=) c.829_892del (p.His277ArgfsTer2) | ClinVar dbSNP |
| 17 | g.43094523_43094535del | CA658656801 | BRCA1 | c.998_1010del (p.Thr333LysfsTer4) c.857_869del (p.Thr286LysfsTer4) c.787+211_787+223del (p.=) n.1134_1146del n.1175_1187del c.670+1313_670+1325del (p.=) n.349_361del c.*781_*793del (p.=) n.595_607del c.920_932del (p.Thr307LysfsTer4) c.784+211_784+223del (p.=) n.409+211_409+223del (p.=) n.412+211_412+223del (p.=) c.*934_*946del (p.=) c.646+211_646+223del (p.=) c.110_122del (p.Thr37LysfsTer4) c.5-30582_5-30570del (p.=) c.-43-20012_-43-20000del (p.=) c.-99+30738_-99+30750del (p.=) c.875_887del (p.Thr292LysfsTer4) | ClinVar dbSNP |
| 17 | g.43094524_43094587del | CA10589974 | BRCA1 | c.944_1007del (p.Arg315LysfsTer5) c.803_866del (p.Arg268LysfsTer5) c.787+157_787+220del (p.=) n.1080_1143del n.1121_1184del c.670+1259_670+1322del (p.=) n.295_358del c.*727_*790del (p.=) n.541_604del c.866_929del (p.Arg289LysfsTer5) c.784+157_784+220del (p.=) n.409+157_409+220del (p.=) n.412+157_412+220del (p.=) c.*880_*943del (p.=) c.646+157_646+220del (p.=) c.56_119del (p.Arg19LysfsTer5) c.4+30595_5-30573del (p.=) c.-43-20066_-43-20003del (p.=) c.-99+30684_-99+30747del (p.=) c.821_884del (p.Arg274LysfsTer5) | ClinVar dbSNP |
| 17 | g.43094527C>A | CA10600053 | BRCA1 | c.1004G>T (p.Ser335Ile) c.863G>T (p.Ser288Ile) c.787+217G>T (p.=) n.1140G>T n.1181G>T c.670+1319G>T (p.=) n.355G>T c.*787G>T (p.=) n.601G>T c.926G>T (p.Ser309Ile) c.784+217G>T (p.=) n.409+217G>T (p.=) n.412+217G>T (p.=) c.*940G>T (p.=) c.646+217G>T (p.=) c.116G>T (p.Ser39Ile) c.5-30576G>T (p.=) c.-43-20006G>T (p.=) c.-99+30744G>T (p.=) c.881G>T (p.Ser294Ile) | COSMIC COSMIC |
| 17 | g.43094527C>G | CA10600054 | BRCA1 | c.1004G>C (p.Ser335Thr) c.863G>C (p.Ser288Thr) c.787+217G>C (p.=) n.1140G>C n.1181G>C c.670+1319G>C (p.=) n.355G>C c.*787G>C (p.=) n.601G>C c.926G>C (p.Ser309Thr) c.784+217G>C (p.=) n.409+217G>C (p.=) n.412+217G>C (p.=) c.*940G>C (p.=) c.646+217G>C (p.=) c.116G>C (p.Ser39Thr) c.5-30576G>C (p.=) c.-43-20006G>C (p.=) c.-99+30744G>C (p.=) c.881G>C (p.Ser294Thr) | |
| 17 | g.43094527C>T | CA10600055 | BRCA1 | c.1004G>A (p.Ser335Asn) c.863G>A (p.Ser288Asn) c.787+217G>A (p.=) n.1140G>A n.1181G>A c.670+1319G>A (p.=) n.355G>A c.*787G>A (p.=) n.601G>A c.926G>A (p.Ser309Asn) c.784+217G>A (p.=) n.409+217G>A (p.=) n.412+217G>A (p.=) c.*940G>A (p.=) c.646+217G>A (p.=) c.116G>A (p.Ser39Asn) c.5-30576G>A (p.=) c.-43-20006G>A (p.=) c.-99+30744G>A (p.=) c.881G>A (p.Ser294Asn) | COSMIC COSMIC |
| 17 | g.43094528T>A | CA10600056 | BRCA1 | c.1003A>T (p.Ser335Cys) c.862A>T (p.Ser288Cys) c.787+216A>T (p.=) n.1139A>T n.1180A>T c.670+1318A>T (p.=) n.354A>T c.*786A>T (p.=) n.600A>T c.925A>T (p.Ser309Cys) c.784+216A>T (p.=) n.409+216A>T (p.=) n.412+216A>T (p.=) c.*939A>T (p.=) c.646+216A>T (p.=) c.115A>T (p.Ser39Cys) c.5-30577A>T (p.=) c.-43-20007A>T (p.=) c.-99+30743A>T (p.=) c.880A>T (p.Ser294Cys) | |
| 17 | g.43094528T>C | CA10600057 | BRCA1 | c.1003A>G (p.Ser335Gly) c.862A>G (p.Ser288Gly) c.787+216A>G (p.=) n.1139A>G n.1180A>G c.670+1318A>G (p.=) n.354A>G c.*786A>G (p.=) n.600A>G c.925A>G (p.Ser309Gly) c.784+216A>G (p.=) n.409+216A>G (p.=) n.412+216A>G (p.=) c.*939A>G (p.=) c.646+216A>G (p.=) c.115A>G (p.Ser39Gly) c.5-30577A>G (p.=) c.-43-20007A>G (p.=) c.-99+30743A>G (p.=) c.880A>G (p.Ser294Gly) | |
| 17 | g.43094528T>G | CA10600058 | BRCA1 | c.1003A>C (p.Ser335Arg) c.862A>C (p.Ser288Arg) c.787+216A>C (p.=) n.1139A>C n.1180A>C c.670+1318A>C (p.=) n.354A>C c.*786A>C (p.=) n.600A>C c.925A>C (p.Ser309Arg) c.784+216A>C (p.=) n.409+216A>C (p.=) n.412+216A>C (p.=) c.*939A>C (p.=) c.646+216A>C (p.=) c.115A>C (p.Ser39Arg) c.5-30577A>C (p.=) c.-43-20007A>C (p.=) c.-99+30743A>C (p.=) c.880A>C (p.Ser294Arg) | |
| 17 | g.43094529G>A | CA500234042 | BRCA1 | c.1002C>T (p.Pro334=) c.861C>T (p.Pro287=) c.787+215C>T (p.=) n.1138C>T n.1179C>T c.670+1317C>T (p.=) n.353C>T c.*785C>T (p.=) n.599C>T c.924C>T (p.Pro308=) c.784+215C>T (p.=) n.409+215C>T (p.=) n.412+215C>T (p.=) c.*938C>T (p.=) c.646+215C>T (p.=) c.114C>T (p.Pro38=) c.5-30578C>T (p.=) c.-43-20008C>T (p.=) c.-99+30742C>T (p.=) c.879C>T (p.Pro293=) | ClinVar |
| 17 | g.43094529G>C | CA500234044 | BRCA1 | c.1002C>G (p.Pro334=) c.861C>G (p.Pro287=) c.787+215C>G (p.=) n.1138C>G n.1179C>G c.670+1317C>G (p.=) n.353C>G c.*785C>G (p.=) n.599C>G c.924C>G (p.Pro308=) c.784+215C>G (p.=) n.409+215C>G (p.=) n.412+215C>G (p.=) c.*938C>G (p.=) c.646+215C>G (p.=) c.114C>G (p.Pro38=) c.5-30578C>G (p.=) c.-43-20008C>G (p.=) c.-99+30742C>G (p.=) c.879C>G (p.Pro293=) | |
| 17 | g.43094529G>T | CA500234043 | BRCA1 | c.1002C>A (p.Pro334=) c.861C>A (p.Pro287=) c.787+215C>A (p.=) n.1138C>A n.1179C>A c.670+1317C>A (p.=) n.353C>A c.*785C>A (p.=) n.599C>A c.924C>A (p.Pro308=) c.784+215C>A (p.=) n.409+215C>A (p.=) n.412+215C>A (p.=) c.*938C>A (p.=) c.646+215C>A (p.=) c.114C>A (p.Pro38=) c.5-30578C>A (p.=) c.-43-20008C>A (p.=) c.-99+30742C>A (p.=) c.879C>A (p.Pro293=) | |
| 17 | g.43094531del | CA10580686 | BRCA1 | c.1002del (p.Ser335AlafsTer6) c.861del (p.Ser288AlafsTer6) c.787+215del (p.=) n.1138del n.1179del c.670+1317del (p.=) n.353del c.*785del (p.=) n.599del c.924del (p.Ser309AlafsTer6) c.784+215del (p.=) n.409+215del (p.=) n.412+215del (p.=) c.*938del (p.=) c.646+215del (p.=) c.114del (p.Ser39AlafsTer6) c.5-30578del (p.=) c.-43-20008del (p.=) c.-99+30742del (p.=) c.879del (p.Ser294AlafsTer6) | ClinVar dbSNP |
| 17 | g.43094530G>A | CA000679 | BRCA1 | c.1001C>T (p.Pro334Leu) c.860C>T (p.Pro287Leu) c.787+214C>T (p.=) n.1137C>T n.1178C>T c.670+1316C>T (p.=) n.352C>T c.*784C>T (p.=) n.598C>T c.923C>T (p.Pro308Leu) c.784+214C>T (p.=) n.409+214C>T (p.=) n.412+214C>T (p.=) c.*937C>T (p.=) c.646+214C>T (p.=) c.113C>T (p.Pro38Leu) c.5-30579C>T (p.=) c.-43-20009C>T (p.=) c.-99+30741C>T (p.=) c.878C>T (p.Pro293Leu) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094530G>C | CA10600059 | BRCA1 | c.1001C>G (p.Pro334Arg) c.860C>G (p.Pro287Arg) c.787+214C>G (p.=) n.1137C>G n.1178C>G c.670+1316C>G (p.=) n.352C>G c.*784C>G (p.=) n.598C>G c.923C>G (p.Pro308Arg) c.784+214C>G (p.=) n.409+214C>G (p.=) n.412+214C>G (p.=) c.*937C>G (p.=) c.646+214C>G (p.=) c.113C>G (p.Pro38Arg) c.5-30579C>G (p.=) c.-43-20009C>G (p.=) c.-99+30741C>G (p.=) c.878C>G (p.Pro293Arg) | |
| 17 | g.43094530G>T | CA000678 | BRCA1 | c.1001C>A (p.Pro334His) c.860C>A (p.Pro287His) c.787+214C>A (p.=) n.1137C>A n.1178C>A c.670+1316C>A (p.=) n.352C>A c.*784C>A (p.=) n.598C>A c.923C>A (p.Pro308His) c.784+214C>A (p.=) n.409+214C>A (p.=) n.412+214C>A (p.=) c.*937C>A (p.=) c.646+214C>A (p.=) c.113C>A (p.Pro38His) c.5-30579C>A (p.=) c.-43-20009C>A (p.=) c.-99+30741C>A (p.=) c.878C>A (p.Pro293His) | ClinVar dbSNP |
| 17 | g.43094531G>A | CA10600060 | BRCA1 | c.1000C>T (p.Pro334Ser) c.859C>T (p.Pro287Ser) c.787+213C>T (p.=) n.1136C>T n.1177C>T c.670+1315C>T (p.=) n.351C>T c.*783C>T (p.=) n.597C>T c.922C>T (p.Pro308Ser) c.784+213C>T (p.=) n.409+213C>T (p.=) n.412+213C>T (p.=) c.*936C>T (p.=) c.646+213C>T (p.=) c.112C>T (p.Pro38Ser) c.5-30580C>T (p.=) c.-43-20010C>T (p.=) c.-99+30740C>T (p.=) c.877C>T (p.Pro293Ser) | |
| 17 | g.43094531G>C | CA10600061 | BRCA1 | c.1000C>G (p.Pro334Ala) c.859C>G (p.Pro287Ala) c.787+213C>G (p.=) n.1136C>G n.1177C>G c.670+1315C>G (p.=) n.351C>G c.*783C>G (p.=) n.597C>G c.922C>G (p.Pro308Ala) c.784+213C>G (p.=) n.409+213C>G (p.=) n.412+213C>G (p.=) c.*936C>G (p.=) c.646+213C>G (p.=) c.112C>G (p.Pro38Ala) c.5-30580C>G (p.=) c.-43-20010C>G (p.=) c.-99+30740C>G (p.=) c.877C>G (p.Pro293Ala) | |
| 17 | g.43094531G>T | CA10600062 | BRCA1 | c.1000C>A (p.Pro334Thr) c.859C>A (p.Pro287Thr) c.787+213C>A (p.=) n.1136C>A n.1177C>A c.670+1315C>A (p.=) n.351C>A c.*783C>A (p.=) n.597C>A c.922C>A (p.Pro308Thr) c.784+213C>A (p.=) n.409+213C>A (p.=) n.412+213C>A (p.=) c.*936C>A (p.=) c.646+213C>A (p.=) c.112C>A (p.Pro38Thr) c.5-30580C>A (p.=) c.-43-20010C>A (p.=) c.-99+30740C>A (p.=) c.877C>A (p.Pro293Thr) | ClinVar |
| 17 | g.43094532A>C | CA500234045 | BRCA1 | c.999T>G (p.Thr333=) c.858T>G (p.Thr286=) c.787+212T>G (p.=) n.1135T>G n.1176T>G c.670+1314T>G (p.=) n.350T>G c.*782T>G (p.=) n.596T>G c.921T>G (p.Thr307=) c.784+212T>G (p.=) n.409+212T>G (p.=) n.412+212T>G (p.=) c.*935T>G (p.=) c.646+212T>G (p.=) c.111T>G (p.Thr37=) c.5-30581T>G (p.=) c.-43-20011T>G (p.=) c.-99+30739T>G (p.=) c.876T>G (p.Thr292=) | |
| 17 | g.43094532A>G | CA500234046 | BRCA1 | c.999T>C (p.Thr333=) c.858T>C (p.Thr286=) c.787+212T>C (p.=) n.1135T>C n.1176T>C c.670+1314T>C (p.=) n.350T>C c.*782T>C (p.=) n.596T>C c.921T>C (p.Thr307=) c.784+212T>C (p.=) n.409+212T>C (p.=) n.412+212T>C (p.=) c.*935T>C (p.=) c.646+212T>C (p.=) c.111T>C (p.Thr37=) c.5-30581T>C (p.=) c.-43-20011T>C (p.=) c.-99+30739T>C (p.=) c.876T>C (p.Thr292=) | |
| 17 | g.43094532A>T | CA500234047 | BRCA1 | c.999T>A (p.Thr333=) c.858T>A (p.Thr286=) c.787+212T>A (p.=) n.1135T>A n.1176T>A c.670+1314T>A (p.=) n.350T>A c.*782T>A (p.=) n.596T>A c.921T>A (p.Thr307=) c.784+212T>A (p.=) n.409+212T>A (p.=) n.412+212T>A (p.=) c.*935T>A (p.=) c.646+212T>A (p.=) c.111T>A (p.Thr37=) c.5-30581T>A (p.=) c.-43-20011T>A (p.=) c.-99+30739T>A (p.=) c.876T>A (p.Thr292=) | ClinVar |
| 17 | g.43094533G>A | CA004008 | BRCA1 | c.998C>T (p.Thr333Ile) c.857C>T (p.Thr286Ile) c.787+211C>T (p.=) n.1134C>T n.1175C>T c.670+1313C>T (p.=) n.349C>T c.*781C>T (p.=) n.595C>T c.920C>T (p.Thr307Ile) c.784+211C>T (p.=) n.409+211C>T (p.=) n.412+211C>T (p.=) c.*934C>T (p.=) c.646+211C>T (p.=) c.110C>T (p.Thr37Ile) c.5-30582C>T (p.=) c.-43-20012C>T (p.=) c.-99+30738C>T (p.=) c.875C>T (p.Thr292Ile) | ClinVar dbSNP gnomAD |
| 17 | g.43094533G>C | CA10600063 | BRCA1 | c.998C>G (p.Thr333Ser) c.857C>G (p.Thr286Ser) c.787+211C>G (p.=) n.1134C>G n.1175C>G c.670+1313C>G (p.=) n.349C>G c.*781C>G (p.=) n.595C>G c.920C>G (p.Thr307Ser) c.784+211C>G (p.=) n.409+211C>G (p.=) n.412+211C>G (p.=) c.*934C>G (p.=) c.646+211C>G (p.=) c.110C>G (p.Thr37Ser) c.5-30582C>G (p.=) c.-43-20012C>G (p.=) c.-99+30738C>G (p.=) c.875C>G (p.Thr292Ser) | ClinVar |
| 17 | g.43094533G>T | CA10600064 | BRCA1 | c.998C>A (p.Thr333Asn) c.857C>A (p.Thr286Asn) c.787+211C>A (p.=) n.1134C>A n.1175C>A c.670+1313C>A (p.=) n.349C>A c.*781C>A (p.=) n.595C>A c.920C>A (p.Thr307Asn) c.784+211C>A (p.=) n.409+211C>A (p.=) n.412+211C>A (p.=) c.*934C>A (p.=) c.646+211C>A (p.=) c.110C>A (p.Thr37Asn) c.5-30582C>A (p.=) c.-43-20012C>A (p.=) c.-99+30738C>A (p.=) c.875C>A (p.Thr292Asn) | |
| 17 | g.43094534T>A | CA10600065 | BRCA1 | c.997A>T (p.Thr333Ser) c.856A>T (p.Thr286Ser) c.787+210A>T (p.=) n.1133A>T n.1174A>T c.670+1312A>T (p.=) n.348A>T c.*780A>T (p.=) n.594A>T c.919A>T (p.Thr307Ser) c.784+210A>T (p.=) n.409+210A>T (p.=) n.412+210A>T (p.=) c.*933A>T (p.=) c.646+210A>T (p.=) c.109A>T (p.Thr37Ser) c.5-30583A>T (p.=) c.-43-20013A>T (p.=) c.-99+30737A>T (p.=) c.874A>T (p.Thr292Ser) | |
| 17 | g.43094534T>C | CA004007 | BRCA1 | c.997A>G (p.Thr333Ala) c.856A>G (p.Thr286Ala) c.787+210A>G (p.=) n.1133A>G n.1174A>G c.670+1312A>G (p.=) n.348A>G c.*780A>G (p.=) n.594A>G c.919A>G (p.Thr307Ala) c.784+210A>G (p.=) n.409+210A>G (p.=) n.412+210A>G (p.=) c.*933A>G (p.=) c.646+210A>G (p.=) c.109A>G (p.Thr37Ala) c.5-30583A>G (p.=) c.-43-20013A>G (p.=) c.-99+30737A>G (p.=) c.874A>G (p.Thr292Ala) | ClinVar dbSNP |
| 17 | g.43094534T>G | CA10600066 | BRCA1 | c.997A>C (p.Thr333Pro) c.856A>C (p.Thr286Pro) c.787+210A>C (p.=) n.1133A>C n.1174A>C c.670+1312A>C (p.=) n.348A>C c.*780A>C (p.=) n.594A>C c.919A>C (p.Thr307Pro) c.784+210A>C (p.=) n.409+210A>C (p.=) n.412+210A>C (p.=) c.*933A>C (p.=) c.646+210A>C (p.=) c.109A>C (p.Thr37Pro) c.5-30583A>C (p.=) c.-43-20013A>C (p.=) c.-99+30737A>C (p.=) c.874A>C (p.Thr292Pro) | |
| 17 | g.43094535C>A | CA004006 | BRCA1 | c.996G>T (p.Arg332=) c.855G>T (p.Arg285=) c.787+209G>T (p.=) n.1132G>T n.1173G>T c.670+1311G>T (p.=) n.347G>T c.*779G>T (p.=) n.593G>T c.918G>T (p.Arg306=) c.784+209G>T (p.=) n.409+209G>T (p.=) n.412+209G>T (p.=) c.*932G>T (p.=) c.646+209G>T (p.=) c.108G>T (p.Arg36=) c.5-30584G>T (p.=) c.-43-20014G>T (p.=) c.-99+30736G>T (p.=) c.873G>T (p.Arg291=) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094535C>G | CA500234048 | BRCA1 | c.996G>C (p.Arg332=) c.855G>C (p.Arg285=) c.787+209G>C (p.=) n.1132G>C n.1173G>C c.670+1311G>C (p.=) n.347G>C c.*779G>C (p.=) n.593G>C c.918G>C (p.Arg306=) c.784+209G>C (p.=) n.409+209G>C (p.=) n.412+209G>C (p.=) c.*932G>C (p.=) c.646+209G>C (p.=) c.108G>C (p.Arg36=) c.5-30584G>C (p.=) c.-43-20014G>C (p.=) c.-99+30736G>C (p.=) c.873G>C (p.Arg291=) | |
| 17 | g.43094535C>T | CA500234049 | BRCA1 | c.996G>A (p.Arg332=) c.855G>A (p.Arg285=) c.787+209G>A (p.=) n.1132G>A n.1173G>A c.670+1311G>A (p.=) n.347G>A c.*779G>A (p.=) n.593G>A c.918G>A (p.Arg306=) c.784+209G>A (p.=) n.409+209G>A (p.=) n.412+209G>A (p.=) c.*932G>A (p.=) c.646+209G>A (p.=) c.108G>A (p.Arg36=) c.5-30584G>A (p.=) c.-43-20014G>A (p.=) c.-99+30736G>A (p.=) c.873G>A (p.Arg291=) | |
| 17 | g.43094536C>A | CA10600067 | BRCA1 | c.995G>T (p.Arg332Leu) c.854G>T (p.Arg285Leu) c.787+208G>T (p.=) n.1131G>T n.1172G>T c.670+1310G>T (p.=) n.346G>T c.*778G>T (p.=) n.592G>T c.917G>T (p.Arg306Leu) c.784+208G>T (p.=) n.409+208G>T (p.=) n.412+208G>T (p.=) c.*931G>T (p.=) c.646+208G>T (p.=) c.107G>T (p.Arg36Leu) c.5-30585G>T (p.=) c.-43-20015G>T (p.=) c.-99+30735G>T (p.=) c.872G>T (p.Arg291Leu) | |
| 17 | g.43094536C>G | CA10600068 | BRCA1 | c.995G>C (p.Arg332Pro) c.854G>C (p.Arg285Pro) c.787+208G>C (p.=) n.1131G>C n.1172G>C c.670+1310G>C (p.=) n.346G>C c.*778G>C (p.=) n.592G>C c.917G>C (p.Arg306Pro) c.784+208G>C (p.=) n.409+208G>C (p.=) n.412+208G>C (p.=) c.*931G>C (p.=) c.646+208G>C (p.=) c.107G>C (p.Arg36Pro) c.5-30585G>C (p.=) c.-43-20015G>C (p.=) c.-99+30735G>C (p.=) c.872G>C (p.Arg291Pro) | |
| 17 | g.43094536C>T | CA004005 | BRCA1 | c.995G>A (p.Arg332Gln) c.854G>A (p.Arg285Gln) c.787+208G>A (p.=) n.1131G>A n.1172G>A c.670+1310G>A (p.=) n.346G>A c.*778G>A (p.=) n.592G>A c.917G>A (p.Arg306Gln) c.784+208G>A (p.=) n.409+208G>A (p.=) n.412+208G>A (p.=) c.*931G>A (p.=) c.646+208G>A (p.=) c.107G>A (p.Arg36Gln) c.5-30585G>A (p.=) c.-43-20015G>A (p.=) c.-99+30735G>A (p.=) c.872G>A (p.Arg291Gln) | ClinVar dbSNP ExAC gnomAD COSMIC COSMIC |
| 17 | g.43094537G>A | CA004004 | BRCA1 | c.994C>T (p.Arg332Trp) c.853C>T (p.Arg285Trp) c.787+207C>T (p.=) n.1130C>T n.1171C>T c.670+1309C>T (p.=) n.345C>T c.*777C>T (p.=) n.591C>T c.916C>T (p.Arg306Trp) c.784+207C>T (p.=) n.409+207C>T (p.=) n.412+207C>T (p.=) c.*930C>T (p.=) c.646+207C>T (p.=) c.106C>T (p.Arg36Trp) c.5-30586C>T (p.=) c.-43-20016C>T (p.=) c.-99+30734C>T (p.=) c.871C>T (p.Arg291Trp) | ClinVar dbSNP gnomAD COSMIC COSMIC |
| 17 | g.43094537G>C | CA10600069 | BRCA1 | c.994C>G (p.Arg332Gly) c.853C>G (p.Arg285Gly) c.787+207C>G (p.=) n.1130C>G n.1171C>G c.670+1309C>G (p.=) n.345C>G c.*777C>G (p.=) n.591C>G c.916C>G (p.Arg306Gly) c.784+207C>G (p.=) n.409+207C>G (p.=) n.412+207C>G (p.=) c.*930C>G (p.=) c.646+207C>G (p.=) c.106C>G (p.Arg36Gly) c.5-30586C>G (p.=) c.-43-20016C>G (p.=) c.-99+30734C>G (p.=) c.871C>G (p.Arg291Gly) | ClinVar |
| 17 | g.43094537G>T | CA500234050 | BRCA1 | c.994C>A (p.Arg332=) c.853C>A (p.Arg285=) c.787+207C>A (p.=) n.1130C>A n.1171C>A c.670+1309C>A (p.=) n.345C>A c.*777C>A (p.=) n.591C>A c.916C>A (p.Arg306=) c.784+207C>A (p.=) n.409+207C>A (p.=) n.412+207C>A (p.=) c.*930C>A (p.=) c.646+207C>A (p.=) c.106C>A (p.Arg36=) c.5-30586C>A (p.=) c.-43-20016C>A (p.=) c.-99+30734C>A (p.=) c.871C>A (p.Arg291=) | |
| 17 | g.43094538C>A | CA10600070 | BRCA1 | c.993G>T (p.Arg331Ser) c.852G>T (p.Arg284Ser) c.787+206G>T (p.=) n.1129G>T n.1170G>T c.670+1308G>T (p.=) n.344G>T c.*776G>T (p.=) n.590G>T c.915G>T (p.Arg305Ser) c.784+206G>T (p.=) n.409+206G>T (p.=) n.412+206G>T (p.=) c.*929G>T (p.=) c.646+206G>T (p.=) c.105G>T (p.Arg35Ser) c.5-30587G>T (p.=) c.-43-20017G>T (p.=) c.-99+30733G>T (p.=) c.870G>T (p.Arg290Ser) | |
| 17 | g.43094538C>G | CA004003 | BRCA1 | c.993G>C (p.Arg331Ser) c.852G>C (p.Arg284Ser) c.787+206G>C (p.=) n.1129G>C n.1170G>C c.670+1308G>C (p.=) n.344G>C c.*776G>C (p.=) n.590G>C c.915G>C (p.Arg305Ser) c.784+206G>C (p.=) n.409+206G>C (p.=) n.412+206G>C (p.=) c.*929G>C (p.=) c.646+206G>C (p.=) c.105G>C (p.Arg35Ser) c.5-30587G>C (p.=) c.-43-20017G>C (p.=) c.-99+30733G>C (p.=) c.870G>C (p.Arg290Ser) | ClinVar dbSNP |
| 17 | g.43094538C>T | CA500234051 | BRCA1 | c.993G>A (p.Arg331=) c.852G>A (p.Arg284=) c.787+206G>A (p.=) n.1129G>A n.1170G>A c.670+1308G>A (p.=) n.344G>A c.*776G>A (p.=) n.590G>A c.915G>A (p.Arg305=) c.784+206G>A (p.=) n.409+206G>A (p.=) n.412+206G>A (p.=) c.*929G>A (p.=) c.646+206G>A (p.=) c.105G>A (p.Arg35=) c.5-30587G>A (p.=) c.-43-20017G>A (p.=) c.-99+30733G>A (p.=) c.870G>A (p.Arg290=) | |
| 17 | g.43094539C>A | CA10600071 | BRCA1 | c.992G>T (p.Arg331Met) c.851G>T (p.Arg284Met) c.787+205G>T (p.=) n.1128G>T n.1169G>T c.670+1307G>T (p.=) n.343G>T c.*775G>T (p.=) n.589G>T c.914G>T (p.Arg305Met) c.784+205G>T (p.=) n.409+205G>T (p.=) n.412+205G>T (p.=) c.*928G>T (p.=) c.646+205G>T (p.=) c.104G>T (p.Arg35Met) c.5-30588G>T (p.=) c.-43-20018G>T (p.=) c.-99+30732G>T (p.=) c.869G>T (p.Arg290Met) | |
| 17 | g.43094539C>G | CA10600072 | BRCA1 | c.992G>C (p.Arg331Thr) c.851G>C (p.Arg284Thr) c.787+205G>C (p.=) n.1128G>C n.1169G>C c.670+1307G>C (p.=) n.343G>C c.*775G>C (p.=) n.589G>C c.914G>C (p.Arg305Thr) c.784+205G>C (p.=) n.409+205G>C (p.=) n.412+205G>C (p.=) c.*928G>C (p.=) c.646+205G>C (p.=) c.104G>C (p.Arg35Thr) c.5-30588G>C (p.=) c.-43-20018G>C (p.=) c.-99+30732G>C (p.=) c.869G>C (p.Arg290Thr) | |
| 17 | g.43094539C>T | CA10600073 | BRCA1 | c.992G>A (p.Arg331Lys) c.851G>A (p.Arg284Lys) c.787+205G>A (p.=) n.1128G>A n.1169G>A c.670+1307G>A (p.=) n.343G>A c.*775G>A (p.=) n.589G>A c.914G>A (p.Arg305Lys) c.784+205G>A (p.=) n.409+205G>A (p.=) n.412+205G>A (p.=) c.*928G>A (p.=) c.646+205G>A (p.=) c.104G>A (p.Arg35Lys) c.5-30588G>A (p.=) c.-43-20018G>A (p.=) c.-99+30732G>A (p.=) c.869G>A (p.Arg290Lys) | |
| 17 | g.43094540T>A | CA10600074 | BRCA1 | c.991A>T (p.Arg331Trp) c.850A>T (p.Arg284Trp) c.787+204A>T (p.=) n.1127A>T n.1168A>T c.670+1306A>T (p.=) n.342A>T c.*774A>T (p.=) n.588A>T c.913A>T (p.Arg305Trp) c.784+204A>T (p.=) n.409+204A>T (p.=) n.412+204A>T (p.=) c.*927A>T (p.=) c.646+204A>T (p.=) c.103A>T (p.Arg35Trp) c.5-30589A>T (p.=) c.-43-20019A>T (p.=) c.-99+30731A>T (p.=) c.868A>T (p.Arg290Trp) | |
| 17 | g.43094540T>C | CA10600075 | BRCA1 | c.991A>G (p.Arg331Gly) c.850A>G (p.Arg284Gly) c.787+204A>G (p.=) n.1127A>G n.1168A>G c.670+1306A>G (p.=) n.342A>G c.*774A>G (p.=) n.588A>G c.913A>G (p.Arg305Gly) c.784+204A>G (p.=) n.409+204A>G (p.=) n.412+204A>G (p.=) c.*927A>G (p.=) c.646+204A>G (p.=) c.103A>G (p.Arg35Gly) c.5-30589A>G (p.=) c.-43-20019A>G (p.=) c.-99+30731A>G (p.=) c.868A>G (p.Arg290Gly) | COSMIC COSMIC |
| 17 | g.43094540T>G | CA500234052 | BRCA1 | c.991A>C (p.Arg331=) c.850A>C (p.Arg284=) c.787+204A>C (p.=) n.1127A>C n.1168A>C c.670+1306A>C (p.=) n.342A>C c.*774A>C (p.=) n.588A>C c.913A>C (p.Arg305=) c.784+204A>C (p.=) n.409+204A>C (p.=) n.412+204A>C (p.=) c.*927A>C (p.=) c.646+204A>C (p.=) c.103A>C (p.Arg35=) c.5-30589A>C (p.=) c.-43-20019A>C (p.=) c.-99+30731A>C (p.=) c.868A>C (p.Arg290=) | |
| 17 | g.43094541A>C | CA10600076 | BRCA1 | c.990T>G (p.Asp330Glu) c.849T>G (p.Asp283Glu) c.787+203T>G (p.=) n.1126T>G n.1167T>G c.670+1305T>G (p.=) n.341T>G c.*773T>G (p.=) n.587T>G c.912T>G (p.Asp304Glu) c.784+203T>G (p.=) n.409+203T>G (p.=) n.412+203T>G (p.=) c.*926T>G (p.=) c.646+203T>G (p.=) c.102T>G (p.Asp34Glu) c.5-30590T>G (p.=) c.-43-20020T>G (p.=) c.-99+30730T>G (p.=) c.867T>G (p.Asp289Glu) | |
| 17 | g.43094541A>G | CA290846361 | BRCA1 | c.990T>C (p.Asp330=) c.849T>C (p.Asp283=) c.787+203T>C (p.=) n.1126T>C n.1167T>C c.670+1305T>C (p.=) n.341T>C c.*773T>C (p.=) n.587T>C c.912T>C (p.Asp304=) c.784+203T>C (p.=) n.409+203T>C (p.=) n.412+203T>C (p.=) c.*926T>C (p.=) c.646+203T>C (p.=) c.102T>C (p.Asp34=) c.5-30590T>C (p.=) c.-43-20020T>C (p.=) c.-99+30730T>C (p.=) c.867T>C (p.Asp289=) | ClinVar dbSNP gnomAD |
| 17 | g.43094541A>T | CA10600077 | BRCA1 | c.990T>A (p.Asp330Glu) c.849T>A (p.Asp283Glu) c.787+203T>A (p.=) n.1126T>A n.1167T>A c.670+1305T>A (p.=) n.341T>A c.*773T>A (p.=) n.587T>A c.912T>A (p.Asp304Glu) c.784+203T>A (p.=) n.409+203T>A (p.=) n.412+203T>A (p.=) c.*926T>A (p.=) c.646+203T>A (p.=) c.102T>A (p.Asp34Glu) c.5-30590T>A (p.=) c.-43-20020T>A (p.=) c.-99+30730T>A (p.=) c.867T>A (p.Asp289Glu) |