| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093750_43094886del | CA10602596 | BRCA1 | c.671-27_1780del c.530-27_1639del c.671-27_787+993del n.807-27_1916del n.848-27_1957del c.670+959_670+2095del (p.=) n.22-27_1131del c.*454-27_*1563del c.593-27_1702del c.668-27_784+993del n.293-27_409+993del n.296-27_412+993del c.530-27_646+993del c.4+30295_5-29800del (p.=) c.-43-20366_-43-19230del (p.=) c.-99+30384_-99+31520del (p.=) c.548-27_1657del | ClinVar |
| 17 | g.43094513_43094886del | CA1139664799 | BRCA1 | c.671-26_1018del c.530-26_877del c.671-26_787+231del n.807-26_1154del n.848-26_1195del c.670+960_670+1333del (p.=) n.22-26_369del c.*454-26_*801del n.268-26_615del c.593-26_940del c.668-26_784+231del n.293-26_409+231del n.296-26_412+231del c.*607-26_*954del c.530-26_646+231del c.-218-26_130del c.4+30296_5-30562del (p.=) c.-43-20365_-43-19992del (p.=) c.-99+30385_-99+30758del (p.=) c.548-26_895del | ClinVar |
| 17 | g.43094521dup | CA000681 | BRCA1 | c.1016dup (p.Val340GlyfsTer6) c.875dup (p.Val293GlyfsTer6) c.787+229dup (p.=) n.1152dup n.1193dup c.670+1331dup (p.=) n.367dup c.*799dup (p.=) n.613dup c.938dup (p.Val314GlyfsTer6) c.784+229dup (p.=) n.409+229dup (p.=) n.412+229dup (p.=) c.*952dup (p.=) c.646+229dup (p.=) c.128dup (p.Val44GlyfsTer6) c.5-30564dup (p.=) c.-43-19994dup (p.=) c.-99+30756dup (p.=) c.893dup (p.Val299GlyfsTer6) | ClinVar dbSNP gnomAD |
| 17 | g.43094515del | CA000682 | BRCA1 | c.1010del (p.Lys339ArgfsTer2) c.869del (p.Lys292ArgfsTer2) c.787+223del (p.=) n.1146del n.1187del c.670+1325del (p.=) n.361del c.*793del (p.=) n.607del c.932del (p.Lys313ArgfsTer2) c.784+223del (p.=) n.409+223del (p.=) n.412+223del (p.=) c.*946del (p.=) c.646+223del (p.=) c.122del (p.Lys43ArgfsTer2) c.5-30570del (p.=) c.-43-20000del (p.=) c.-99+30750del (p.=) c.887del (p.Lys298ArgfsTer2) | ClinVar dbSNP dbSNP dbSNP COSMIC COSMIC |
| 17 | g.43094516_43094579del | CA003981 | BRCA1 | c.950_1013del (p.His318ArgfsTer2) c.809_872del (p.His271ArgfsTer2) c.787+163_787+226del (p.=) n.1086_1149del n.1127_1190del c.670+1265_670+1328del (p.=) n.301_364del c.*733_*796del (p.=) n.547_610del c.872_935del (p.His292ArgfsTer2) c.784+163_784+226del (p.=) n.409+163_409+226del (p.=) n.412+163_412+226del (p.=) c.*886_*949del (p.=) c.646+163_646+226del (p.=) c.62_125del (p.His22ArgfsTer2) c.4+30601_5-30567del (p.=) c.-43-20060_-43-19997del (p.=) c.-99+30690_-99+30753del (p.=) c.827_890del (p.His277ArgfsTer2) | ClinVar dbSNP |
| 17 | g.43094518T>A | CA10600033 | BRCA1 | c.1013A>T (p.Lys338Ile) c.872A>T (p.Lys291Ile) c.787+226A>T (p.=) n.1149A>T n.1190A>T c.670+1328A>T (p.=) n.364A>T c.*796A>T (p.=) n.610A>T c.935A>T (p.Lys312Ile) c.784+226A>T (p.=) n.409+226A>T (p.=) n.412+226A>T (p.=) c.*949A>T (p.=) c.646+226A>T (p.=) c.125A>T (p.Lys42Ile) c.5-30567A>T (p.=) c.-43-19997A>T (p.=) c.-99+30753A>T (p.=) c.890A>T (p.Lys297Ile) | |
| 17 | g.43094518T>C | CA10600034 | BRCA1 | c.1013A>G (p.Lys338Arg) c.872A>G (p.Lys291Arg) c.787+226A>G (p.=) n.1149A>G n.1190A>G c.670+1328A>G (p.=) n.364A>G c.*796A>G (p.=) n.610A>G c.935A>G (p.Lys312Arg) c.784+226A>G (p.=) n.409+226A>G (p.=) n.412+226A>G (p.=) c.*949A>G (p.=) c.646+226A>G (p.=) c.125A>G (p.Lys42Arg) c.5-30567A>G (p.=) c.-43-19997A>G (p.=) c.-99+30753A>G (p.=) c.890A>G (p.Lys297Arg) | |
| 17 | g.43094518T>G | CA10600035 | BRCA1 | c.1013A>C (p.Lys338Thr) c.872A>C (p.Lys291Thr) c.787+226A>C (p.=) n.1149A>C n.1190A>C c.670+1328A>C (p.=) n.364A>C c.*796A>C (p.=) n.610A>C c.935A>C (p.Lys312Thr) c.784+226A>C (p.=) n.409+226A>C (p.=) n.412+226A>C (p.=) c.*949A>C (p.=) c.646+226A>C (p.=) c.125A>C (p.Lys42Thr) c.5-30567A>C (p.=) c.-43-19997A>C (p.=) c.-99+30753A>C (p.=) c.890A>C (p.Lys297Thr) | |
| 17 | g.43094519T>A | CA000683 | BRCA1 | c.1012A>T (p.Lys338Ter) c.871A>T (p.Lys291Ter) c.787+225A>T (p.=) n.1148A>T n.1189A>T c.670+1327A>T (p.=) n.363A>T c.*795A>T (p.=) n.609A>T c.934A>T (p.Lys312Ter) c.784+225A>T (p.=) n.409+225A>T (p.=) n.412+225A>T (p.=) c.*948A>T (p.=) c.646+225A>T (p.=) c.124A>T (p.Lys42Ter) c.5-30568A>T (p.=) c.-43-19998A>T (p.=) c.-99+30752A>T (p.=) c.889A>T (p.Lys297Ter) | ClinVar dbSNP |
| 17 | g.43094519T>C | CA10600036 | BRCA1 | c.1012A>G (p.Lys338Glu) c.871A>G (p.Lys291Glu) c.787+225A>G (p.=) n.1148A>G n.1189A>G c.670+1327A>G (p.=) n.363A>G c.*795A>G (p.=) n.609A>G c.934A>G (p.Lys312Glu) c.784+225A>G (p.=) n.409+225A>G (p.=) n.412+225A>G (p.=) c.*948A>G (p.=) c.646+225A>G (p.=) c.124A>G (p.Lys42Glu) c.5-30568A>G (p.=) c.-43-19998A>G (p.=) c.-99+30752A>G (p.=) c.889A>G (p.Lys297Glu) | ClinVar |
| 17 | g.43094519T>G | CA10600037 | BRCA1 | c.1012A>C (p.Lys338Gln) c.871A>C (p.Lys291Gln) c.787+225A>C (p.=) n.1148A>C n.1189A>C c.670+1327A>C (p.=) n.363A>C c.*795A>C (p.=) n.609A>C c.934A>C (p.Lys312Gln) c.784+225A>C (p.=) n.409+225A>C (p.=) n.412+225A>C (p.=) c.*948A>C (p.=) c.646+225A>C (p.=) c.124A>C (p.Lys42Gln) c.5-30568A>C (p.=) c.-43-19998A>C (p.=) c.-99+30752A>C (p.=) c.889A>C (p.Lys297Gln) | |
| 17 | g.43094520T>A | CA10600038 | BRCA1 | c.1011A>T (p.Glu337Asp) c.870A>T (p.Glu290Asp) c.787+224A>T (p.=) n.1147A>T n.1188A>T c.670+1326A>T (p.=) n.362A>T c.*794A>T (p.=) n.608A>T c.933A>T (p.Glu311Asp) c.784+224A>T (p.=) n.409+224A>T (p.=) n.412+224A>T (p.=) c.*947A>T (p.=) c.646+224A>T (p.=) c.123A>T (p.Glu41Asp) c.5-30569A>T (p.=) c.-43-19999A>T (p.=) c.-99+30751A>T (p.=) c.888A>T (p.Glu296Asp) | |
| 17 | g.43094520T>C | CA500234038 | BRCA1 | c.1011A>G (p.Glu337=) c.870A>G (p.Glu290=) c.787+224A>G (p.=) n.1147A>G n.1188A>G c.670+1326A>G (p.=) n.362A>G c.*794A>G (p.=) n.608A>G c.933A>G (p.Glu311=) c.784+224A>G (p.=) n.409+224A>G (p.=) n.412+224A>G (p.=) c.*947A>G (p.=) c.646+224A>G (p.=) c.123A>G (p.Glu41=) c.5-30569A>G (p.=) c.-43-19999A>G (p.=) c.-99+30751A>G (p.=) c.888A>G (p.Glu296=) | ClinVar |
| 17 | g.43094520T>G | CA10600039 | BRCA1 | c.1011A>C (p.Glu337Asp) c.870A>C (p.Glu290Asp) c.787+224A>C (p.=) n.1147A>C n.1188A>C c.670+1326A>C (p.=) n.362A>C c.*794A>C (p.=) n.608A>C c.933A>C (p.Glu311Asp) c.784+224A>C (p.=) n.409+224A>C (p.=) n.412+224A>C (p.=) c.*947A>C (p.=) c.646+224A>C (p.=) c.123A>C (p.Glu41Asp) c.5-30569A>C (p.=) c.-43-19999A>C (p.=) c.-99+30751A>C (p.=) c.888A>C (p.Glu296Asp) | |
| 17 | g.43094521T>A | CA10600040 | BRCA1 | c.1010A>T (p.Glu337Val) c.869A>T (p.Glu290Val) c.787+223A>T (p.=) n.1146A>T n.1187A>T c.670+1325A>T (p.=) n.361A>T c.*793A>T (p.=) n.607A>T c.932A>T (p.Glu311Val) c.784+223A>T (p.=) n.409+223A>T (p.=) n.412+223A>T (p.=) c.*946A>T (p.=) c.646+223A>T (p.=) c.122A>T (p.Glu41Val) c.5-30570A>T (p.=) c.-43-20000A>T (p.=) c.-99+30750A>T (p.=) c.887A>T (p.Glu296Val) | |
| 17 | g.43094521T>C | CA10600041 | BRCA1 | c.1010A>G (p.Glu337Gly) c.869A>G (p.Glu290Gly) c.787+223A>G (p.=) n.1146A>G n.1187A>G c.670+1325A>G (p.=) n.361A>G c.*793A>G (p.=) n.607A>G c.932A>G (p.Glu311Gly) c.784+223A>G (p.=) n.409+223A>G (p.=) n.412+223A>G (p.=) c.*946A>G (p.=) c.646+223A>G (p.=) c.122A>G (p.Glu41Gly) c.5-30570A>G (p.=) c.-43-20000A>G (p.=) c.-99+30750A>G (p.=) c.887A>G (p.Glu296Gly) | |
| 17 | g.43094521T>G | CA10600042 | BRCA1 | c.1010A>C (p.Glu337Ala) c.869A>C (p.Glu290Ala) c.787+223A>C (p.=) n.1146A>C n.1187A>C c.670+1325A>C (p.=) n.361A>C c.*793A>C (p.=) n.607A>C c.932A>C (p.Glu311Ala) c.784+223A>C (p.=) n.409+223A>C (p.=) n.412+223A>C (p.=) c.*946A>C (p.=) c.646+223A>C (p.=) c.122A>C (p.Glu41Ala) c.5-30570A>C (p.=) c.-43-20000A>C (p.=) c.-99+30750A>C (p.=) c.887A>C (p.Glu296Ala) | |
| 17 | g.43094521_43094522del | CA658824545 | BRCA1 | c.1008_1009del (p.Glu337LysfsTer8) c.867_868del (p.Glu290LysfsTer8) c.787+221_787+222del (p.=) n.1144_1145del n.1185_1186del c.670+1323_670+1324del (p.=) n.359_360del c.*791_*792del (p.=) n.605_606del c.930_931del (p.Glu311LysfsTer8) c.784+221_784+222del (p.=) n.409+221_409+222del (p.=) n.412+221_412+222del (p.=) c.*944_*945del (p.=) c.646+221_646+222del (p.=) c.120_121del (p.Glu41LysfsTer8) c.5-30572_5-30571del (p.=) c.-43-20002_-43-20001del (p.=) c.-99+30748_-99+30749del (p.=) c.885_886del (p.Glu296LysfsTer8) | ClinVar dbSNP |
| 17 | g.43094521_43094533del | CA658656801 | BRCA1 | c.996_1008del (p.Thr333LysfsTer4) c.855_867del (p.Thr286LysfsTer4) c.787+209_787+221del (p.=) n.1132_1144del n.1173_1185del c.670+1311_670+1323del (p.=) n.347_359del c.*779_*791del (p.=) n.593_605del c.918_930del (p.Thr307LysfsTer4) c.784+209_784+221del (p.=) n.409+209_409+221del (p.=) n.412+209_412+221del (p.=) c.*932_*944del (p.=) c.646+209_646+221del (p.=) c.108_120del (p.Thr37LysfsTer4) c.5-30584_5-30572del (p.=) c.-43-20014_-43-20002del (p.=) c.-99+30736_-99+30748del (p.=) c.873_885del (p.Thr292LysfsTer4) | ClinVar dbSNP |
| 17 | g.43094522C>A | CA10600043 | BRCA1 | c.1009G>T (p.Glu337Ter) c.868G>T (p.Glu290Ter) c.787+222G>T (p.=) n.1145G>T n.1186G>T c.670+1324G>T (p.=) n.360G>T c.*792G>T (p.=) n.606G>T c.931G>T (p.Glu311Ter) c.784+222G>T (p.=) n.409+222G>T (p.=) n.412+222G>T (p.=) c.*945G>T (p.=) c.646+222G>T (p.=) c.121G>T (p.Glu41Ter) c.5-30571G>T (p.=) c.-43-20001G>T (p.=) c.-99+30749G>T (p.=) c.886G>T (p.Glu296Ter) | |
| 17 | g.43094522C>G | CA10600044 | BRCA1 | c.1009G>C (p.Glu337Gln) c.868G>C (p.Glu290Gln) c.787+222G>C (p.=) n.1145G>C n.1186G>C c.670+1324G>C (p.=) n.360G>C c.*792G>C (p.=) n.606G>C c.931G>C (p.Glu311Gln) c.784+222G>C (p.=) n.409+222G>C (p.=) n.412+222G>C (p.=) c.*945G>C (p.=) c.646+222G>C (p.=) c.121G>C (p.Glu41Gln) c.5-30571G>C (p.=) c.-43-20001G>C (p.=) c.-99+30749G>C (p.=) c.886G>C (p.Glu296Gln) | ClinVar |
| 17 | g.43094522C>T | CA10600045 | BRCA1 | c.1009G>A (p.Glu337Lys) c.868G>A (p.Glu290Lys) c.787+222G>A (p.=) n.1145G>A n.1186G>A c.670+1324G>A (p.=) n.360G>A c.*792G>A (p.=) n.606G>A c.931G>A (p.Glu311Lys) c.784+222G>A (p.=) n.409+222G>A (p.=) n.412+222G>A (p.=) c.*945G>A (p.=) c.646+222G>A (p.=) c.121G>A (p.Glu41Lys) c.5-30571G>A (p.=) c.-43-20001G>A (p.=) c.-99+30749G>A (p.=) c.886G>A (p.Glu296Lys) | |
| 17 | g.43094523T>A | CA500234039 | BRCA1 | c.1008A>T (p.Thr336=) c.867A>T (p.Thr289=) c.787+221A>T (p.=) n.1144A>T n.1185A>T c.670+1323A>T (p.=) n.359A>T c.*791A>T (p.=) n.605A>T c.930A>T (p.Thr310=) c.784+221A>T (p.=) n.409+221A>T (p.=) n.412+221A>T (p.=) c.*944A>T (p.=) c.646+221A>T (p.=) c.120A>T (p.Thr40=) c.5-30572A>T (p.=) c.-43-20002A>T (p.=) c.-99+30748A>T (p.=) c.885A>T (p.Thr295=) | |
| 17 | g.43094523T>C | CA16615388 | BRCA1 | c.1008A>G (p.Thr336=) c.867A>G (p.Thr289=) c.787+221A>G (p.=) n.1144A>G n.1185A>G c.670+1323A>G (p.=) n.359A>G c.*791A>G (p.=) n.605A>G c.930A>G (p.Thr310=) c.784+221A>G (p.=) n.409+221A>G (p.=) n.412+221A>G (p.=) c.*944A>G (p.=) c.646+221A>G (p.=) c.120A>G (p.Thr40=) c.5-30572A>G (p.=) c.-43-20002A>G (p.=) c.-99+30748A>G (p.=) c.885A>G (p.Thr295=) | ClinVar |
| 17 | g.43094523T>G | CA500234040 | BRCA1 | c.1008A>C (p.Thr336=) c.867A>C (p.Thr289=) c.787+221A>C (p.=) n.1144A>C n.1185A>C c.670+1323A>C (p.=) n.359A>C c.*791A>C (p.=) n.605A>C c.930A>C (p.Thr310=) c.784+221A>C (p.=) n.409+221A>C (p.=) n.412+221A>C (p.=) c.*944A>C (p.=) c.646+221A>C (p.=) c.120A>C (p.Thr40=) c.5-30572A>C (p.=) c.-43-20002A>C (p.=) c.-99+30748A>C (p.=) c.885A>C (p.Thr295=) | |
| 17 | g.43094523dup | CA000680 | BRCA1 | c.1008dup (p.Glu337ArgfsTer9) c.867dup (p.Glu290ArgfsTer9) c.787+221dup (p.=) n.1144dup n.1185dup c.670+1323dup (p.=) n.359dup c.*791dup (p.=) n.605dup c.930dup (p.Glu311ArgfsTer9) c.784+221dup (p.=) n.409+221dup (p.=) n.412+221dup (p.=) c.*944dup (p.=) c.646+221dup (p.=) c.120dup (p.Glu41ArgfsTer9) c.5-30572dup (p.=) c.-43-20002dup (p.=) c.-99+30748dup (p.=) c.885dup (p.Glu296ArgfsTer9) | ClinVar dbSNP |
| 17 | g.43094524G>A | CA10600046 | BRCA1 | c.1007C>T (p.Thr336Ile) c.866C>T (p.Thr289Ile) c.787+220C>T (p.=) n.1143C>T n.1184C>T c.670+1322C>T (p.=) n.358C>T c.*790C>T (p.=) n.604C>T c.929C>T (p.Thr310Ile) c.784+220C>T (p.=) n.409+220C>T (p.=) n.412+220C>T (p.=) c.*943C>T (p.=) c.646+220C>T (p.=) c.119C>T (p.Thr40Ile) c.5-30573C>T (p.=) c.-43-20003C>T (p.=) c.-99+30747C>T (p.=) c.884C>T (p.Thr295Ile) | |
| 17 | g.43094524G>C | CA10600047 | BRCA1 | c.1007C>G (p.Thr336Arg) c.866C>G (p.Thr289Arg) c.787+220C>G (p.=) n.1143C>G n.1184C>G c.670+1322C>G (p.=) n.358C>G c.*790C>G (p.=) n.604C>G c.929C>G (p.Thr310Arg) c.784+220C>G (p.=) n.409+220C>G (p.=) n.412+220C>G (p.=) c.*943C>G (p.=) c.646+220C>G (p.=) c.119C>G (p.Thr40Arg) c.5-30573C>G (p.=) c.-43-20003C>G (p.=) c.-99+30747C>G (p.=) c.884C>G (p.Thr295Arg) | ClinVar |
| 17 | g.43094524G>T | CA10600048 | BRCA1 | c.1007C>A (p.Thr336Lys) c.866C>A (p.Thr289Lys) c.787+220C>A (p.=) n.1143C>A n.1184C>A c.670+1322C>A (p.=) n.358C>A c.*790C>A (p.=) n.604C>A c.929C>A (p.Thr310Lys) c.784+220C>A (p.=) n.409+220C>A (p.=) n.412+220C>A (p.=) c.*943C>A (p.=) c.646+220C>A (p.=) c.119C>A (p.Thr40Lys) c.5-30573C>A (p.=) c.-43-20003C>A (p.=) c.-99+30747C>A (p.=) c.884C>A (p.Thr295Lys) | |
| 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.43094525T>A | CA10600049 | BRCA1 | c.1006A>T (p.Thr336Ser) c.865A>T (p.Thr289Ser) c.787+219A>T (p.=) n.1142A>T n.1183A>T c.670+1321A>T (p.=) n.357A>T c.*789A>T (p.=) n.603A>T c.928A>T (p.Thr310Ser) c.784+219A>T (p.=) n.409+219A>T (p.=) n.412+219A>T (p.=) c.*942A>T (p.=) c.646+219A>T (p.=) c.118A>T (p.Thr40Ser) c.5-30574A>T (p.=) c.-43-20004A>T (p.=) c.-99+30746A>T (p.=) c.883A>T (p.Thr295Ser) | |
| 17 | g.43094525T>C | CA10600050 | BRCA1 | c.1006A>G (p.Thr336Ala) c.865A>G (p.Thr289Ala) c.787+219A>G (p.=) n.1142A>G n.1183A>G c.670+1321A>G (p.=) n.357A>G c.*789A>G (p.=) n.603A>G c.928A>G (p.Thr310Ala) c.784+219A>G (p.=) n.409+219A>G (p.=) n.412+219A>G (p.=) c.*942A>G (p.=) c.646+219A>G (p.=) c.118A>G (p.Thr40Ala) c.5-30574A>G (p.=) c.-43-20004A>G (p.=) c.-99+30746A>G (p.=) c.883A>G (p.Thr295Ala) | ClinVar |
| 17 | g.43094525T>G | CA10600051 | BRCA1 | c.1006A>C (p.Thr336Pro) c.865A>C (p.Thr289Pro) c.787+219A>C (p.=) n.1142A>C n.1183A>C c.670+1321A>C (p.=) n.357A>C c.*789A>C (p.=) n.603A>C c.928A>C (p.Thr310Pro) c.784+219A>C (p.=) n.409+219A>C (p.=) n.412+219A>C (p.=) c.*942A>C (p.=) c.646+219A>C (p.=) c.118A>C (p.Thr40Pro) c.5-30574A>C (p.=) c.-43-20004A>C (p.=) c.-99+30746A>C (p.=) c.883A>C (p.Thr295Pro) | |
| 17 | g.43094526G>A | CA500234041 | BRCA1 | c.1005C>T (p.Ser335=) c.864C>T (p.Ser288=) c.787+218C>T (p.=) n.1141C>T n.1182C>T c.670+1320C>T (p.=) n.356C>T c.*788C>T (p.=) n.602C>T c.927C>T (p.Ser309=) c.784+218C>T (p.=) n.409+218C>T (p.=) n.412+218C>T (p.=) c.*941C>T (p.=) c.646+218C>T (p.=) c.117C>T (p.Ser39=) c.5-30575C>T (p.=) c.-43-20005C>T (p.=) c.-99+30745C>T (p.=) c.882C>T (p.Ser294=) | |
| 17 | g.43094526G>C | CA10600052 | BRCA1 | c.1005C>G (p.Ser335Arg) c.864C>G (p.Ser288Arg) c.787+218C>G (p.=) n.1141C>G n.1182C>G c.670+1320C>G (p.=) n.356C>G c.*788C>G (p.=) n.602C>G c.927C>G (p.Ser309Arg) c.784+218C>G (p.=) n.409+218C>G (p.=) n.412+218C>G (p.=) c.*941C>G (p.=) c.646+218C>G (p.=) c.117C>G (p.Ser39Arg) c.5-30575C>G (p.=) c.-43-20005C>G (p.=) c.-99+30745C>G (p.=) c.882C>G (p.Ser294Arg) | |
| 17 | g.43094526G>T | CA10580685 | BRCA1 | c.1005C>A (p.Ser335Arg) c.864C>A (p.Ser288Arg) c.787+218C>A (p.=) n.1141C>A n.1182C>A c.670+1320C>A (p.=) n.356C>A c.*788C>A (p.=) n.602C>A c.927C>A (p.Ser309Arg) c.784+218C>A (p.=) n.409+218C>A (p.=) n.412+218C>A (p.=) c.*941C>A (p.=) c.646+218C>A (p.=) c.117C>A (p.Ser39Arg) c.5-30575C>A (p.=) c.-43-20005C>A (p.=) c.-99+30745C>A (p.=) c.882C>A (p.Ser294Arg) | 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.43094529del | CA10580686 | BRCA1 | c.1000del (p.Ser335AlafsTer6) c.859del (p.Ser288AlafsTer6) c.787+213del (p.=) n.1136del n.1177del c.670+1315del (p.=) n.351del c.*783del (p.=) n.597del c.922del (p.Ser309AlafsTer6) c.784+213del (p.=) n.409+213del (p.=) n.412+213del (p.=) c.*936del (p.=) c.646+213del (p.=) c.112del (p.Ser39AlafsTer6) c.5-30580del (p.=) c.-43-20010del (p.=) c.-99+30740del (p.=) c.877del (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) |