| 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.43094312_43094354del | CA000780 | BRCA1 | c.1175_1217del (p.Leu393ProfsTer3) c.1034_1076del (p.Leu346ProfsTer3) c.787+388_787+430del (p.=) n.1311_1353del n.1352_1394del c.670+1490_670+1532del (p.=) n.526_568del c.*958_*1000del (p.=) n.772_814del c.1097_1139del (p.Leu367ProfsTer3) c.784+388_784+430del (p.=) n.409+388_409+430del (p.=) n.412+388_412+430del (p.=) c.*1111_*1153del (p.=) c.646+388_646+430del (p.=) c.287_329del (p.Leu97ProfsTer3) c.5-30405_5-30363del (p.=) c.-43-19835_-43-19793del (p.=) c.-99+30915_-99+30957del (p.=) c.1052_1094del (p.Leu352ProfsTer3) | ClinVar dbSNP |
| 17 | g.43094313_43094356del | CA000781 | BRCA1 | c.1175_1218del (p.Leu392ArgfsTer5) c.1034_1077del (p.Leu345ArgfsTer5) c.787+388_787+431del (p.=) n.1311_1354del n.1352_1395del c.670+1490_670+1533del (p.=) n.526_569del c.*958_*1001del (p.=) n.772_815del c.1097_1140del (p.Leu366ArgfsTer5) c.784+388_784+431del (p.=) n.409+388_409+431del (p.=) n.412+388_412+431del (p.=) c.*1111_*1154del (p.=) c.646+388_646+431del (p.=) c.287_330del (p.Leu96ArgfsTer5) c.5-30405_5-30362del (p.=) c.-43-19835_-43-19792del (p.=) c.-99+30915_-99+30958del (p.=) c.1052_1095del (p.Leu351ArgfsTer5) | ClinVar dbSNP |
| 17 | g.43094315_43094356del | CA000779 | BRCA1 | c.1175_1216del (p.Leu392_Asn406delinsHis) c.1034_1075del (p.Leu345_Asn359delinsHis) c.787+388_787+429del (p.=) n.1311_1352del n.1352_1393del c.670+1490_670+1531del (p.=) n.526_567del c.*958_*999del (p.=) n.772_813del c.1097_1138del (p.Leu366_Asn380delinsHis) c.784+388_784+429del (p.=) n.409+388_409+429del (p.=) n.412+388_412+429del (p.=) c.*1111_*1152del (p.=) c.646+388_646+429del (p.=) c.287_328del (p.Leu96_Asn110delinsHis) c.5-30405_5-30364del (p.=) c.-43-19835_-43-19794del (p.=) c.-99+30915_-99+30956del (p.=) c.1052_1093del (p.Leu351_Asn365delinsHis) | ClinVar dbSNP |
| 17 | g.43094316_43094355del | CA658824533 | BRCA1 | c.1176_1215del (p.Leu393MetfsTer4) c.1035_1074del (p.Leu346MetfsTer4) c.787+389_787+428del (p.=) n.1312_1351del n.1353_1392del c.670+1491_670+1530del (p.=) n.527_566del c.*959_*998del (p.=) n.773_812del c.1098_1137del (p.Leu367MetfsTer4) c.784+389_784+428del (p.=) n.409+389_409+428del (p.=) n.412+389_412+428del (p.=) c.*1112_*1151del (p.=) c.646+389_646+428del (p.=) c.288_327del (p.Leu97MetfsTer4) c.5-30404_5-30365del (p.=) c.-43-19834_-43-19795del (p.=) c.-99+30916_-99+30955del (p.=) c.1053_1092del (p.Leu352MetfsTer4) | ClinVar dbSNP |
| 17 | g.43094316_43094356del | CA000778 | BRCA1 | c.1175_1215del (p.Leu392GlnfsTer6) c.1034_1074del (p.Leu345GlnfsTer6) c.787+388_787+428del (p.=) n.1311_1351del n.1352_1392del c.670+1490_670+1530del (p.=) n.526_566del c.*958_*998del (p.=) n.772_812del c.1097_1137del (p.Leu366GlnfsTer6) c.784+388_784+428del (p.=) n.409+388_409+428del (p.=) n.412+388_412+428del (p.=) c.*1111_*1151del (p.=) c.646+388_646+428del (p.=) c.287_327del (p.Leu96GlnfsTer6) c.5-30405_5-30365del (p.=) c.-43-19835_-43-19795del (p.=) c.-99+30915_-99+30955del (p.=) c.1052_1092del (p.Leu351GlnfsTer6) | ClinVar dbSNP |
| 17 | g.43094317_43094356del | CA000776 | BRCA1 | c.1174_1213del (p.Leu392GlnfsTer5) c.1033_1072del (p.Leu345GlnfsTer5) c.787+387_787+426del (p.=) n.1310_1349del n.1351_1390del c.670+1489_670+1528del (p.=) n.525_564del c.*957_*996del (p.=) n.771_810del c.1096_1135del (p.Leu366GlnfsTer5) c.784+387_784+426del (p.=) n.409+387_409+426del (p.=) n.412+387_412+426del (p.=) c.*1110_*1149del (p.=) c.646+387_646+426del (p.=) c.286_325del (p.Leu96GlnfsTer5) c.5-30406_5-30367del (p.=) c.-43-19836_-43-19797del (p.=) c.-99+30914_-99+30953del (p.=) c.1051_1090del (p.Leu351GlnfsTer5) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094324_43094363del | CA1139532220 | BRCA1 | c.1165_1204del (p.Asp390LeufsTer7) c.1024_1063del (p.Asp343LeufsTer7) c.787+378_787+417del (p.=) n.1301_1340del n.1342_1381del c.670+1480_670+1519del (p.=) n.516_555del c.*948_*987del (p.=) n.762_801del c.1087_1126del (p.Asp364LeufsTer7) c.784+378_784+417del (p.=) n.409+378_409+417del (p.=) n.412+378_412+417del (p.=) c.*1101_*1140del (p.=) c.646+378_646+417del (p.=) c.277_316del (p.Asp94LeufsTer7) c.5-30415_5-30376del (p.=) c.-43-19845_-43-19806del (p.=) c.-99+30905_-99+30944del (p.=) c.1042_1081del (p.Asp349LeufsTer7) | |
| 17 | g.43094325C>A | CA10599638 | BRCA1 | c.1206G>T (p.Glu402Asp) c.1065G>T (p.Glu355Asp) c.787+419G>T (p.=) n.1342G>T n.1383G>T c.670+1521G>T (p.=) n.557G>T c.*989G>T (p.=) n.803G>T c.1128G>T (p.Glu376Asp) c.784+419G>T (p.=) n.409+419G>T (p.=) n.412+419G>T (p.=) c.*1142G>T (p.=) c.646+419G>T (p.=) c.318G>T (p.Glu106Asp) c.5-30374G>T (p.=) c.-43-19804G>T (p.=) c.-99+30946G>T (p.=) c.1083G>T (p.Glu361Asp) | gnomAD |
| 17 | g.43094325C>G | CA10599639 | BRCA1 | c.1206G>C (p.Glu402Asp) c.1065G>C (p.Glu355Asp) c.787+419G>C (p.=) n.1342G>C n.1383G>C c.670+1521G>C (p.=) n.557G>C c.*989G>C (p.=) n.803G>C c.1128G>C (p.Glu376Asp) c.784+419G>C (p.=) n.409+419G>C (p.=) n.412+419G>C (p.=) c.*1142G>C (p.=) c.646+419G>C (p.=) c.318G>C (p.Glu106Asp) c.5-30374G>C (p.=) c.-43-19804G>C (p.=) c.-99+30946G>C (p.=) c.1083G>C (p.Glu361Asp) | ClinVar |
| 17 | g.43094325C>T | CA500233570 | BRCA1 | c.1206G>A (p.Glu402=) c.1065G>A (p.Glu355=) c.787+419G>A (p.=) n.1342G>A n.1383G>A c.670+1521G>A (p.=) n.557G>A c.*989G>A (p.=) n.803G>A c.1128G>A (p.Glu376=) c.784+419G>A (p.=) n.409+419G>A (p.=) n.412+419G>A (p.=) c.*1142G>A (p.=) c.646+419G>A (p.=) c.318G>A (p.Glu106=) c.5-30374G>A (p.=) c.-43-19804G>A (p.=) c.-99+30946G>A (p.=) c.1083G>A (p.Glu361=) | |
| 17 | g.43094325_43094331delinsACCTAACAGTTCATGTGAG | CA658653707 | BRCA1 | c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly) c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly) c.787+413_787+419delinsCTCACATGAACTGTTAGGT (p.=) n.1336_1342delinsCTCACATGAACTGTTAGGT n.1377_1383delinsCTCACATGAACTGTTAGGT c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (p.=) n.551_557delinsCTCACATGAACTGTTAGGT c.*983_*989delinsCTCACATGAACTGTTAGGT (p.=) n.797_803delinsCTCACATGAACTGTTAGGT c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly) c.784+413_784+419delinsCTCACATGAACTGTTAGGT (p.=) n.409+413_409+419delinsCTCACATGAACTGTTAGGT (p.=) n.412+413_412+419delinsCTCACATGAACTGTTAGGT (p.=) c.*1136_*1142delinsCTCACATGAACTGTTAGGT (p.=) c.646+413_646+419delinsCTCACATGAACTGTTAGGT (p.=) c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly) c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (p.=) c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (p.=) c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (p.=) c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly) | ClinVar dbSNP |
| 17 | g.43094326T>A | CA10599640 | BRCA1 | c.1205A>T (p.Glu402Val) c.1064A>T (p.Glu355Val) c.787+418A>T (p.=) n.1341A>T n.1382A>T c.670+1520A>T (p.=) n.556A>T c.*988A>T (p.=) n.802A>T c.1127A>T (p.Glu376Val) c.784+418A>T (p.=) n.409+418A>T (p.=) n.412+418A>T (p.=) c.*1141A>T (p.=) c.646+418A>T (p.=) c.317A>T (p.Glu106Val) c.5-30375A>T (p.=) c.-43-19805A>T (p.=) c.-99+30945A>T (p.=) c.1082A>T (p.Glu361Val) | ClinVar |
| 17 | g.43094326T>C | CA10599641 | BRCA1 | c.1205A>G (p.Glu402Gly) c.1064A>G (p.Glu355Gly) c.787+418A>G (p.=) n.1341A>G n.1382A>G c.670+1520A>G (p.=) n.556A>G c.*988A>G (p.=) n.802A>G c.1127A>G (p.Glu376Gly) c.784+418A>G (p.=) n.409+418A>G (p.=) n.412+418A>G (p.=) c.*1141A>G (p.=) c.646+418A>G (p.=) c.317A>G (p.Glu106Gly) c.5-30375A>G (p.=) c.-43-19805A>G (p.=) c.-99+30945A>G (p.=) c.1082A>G (p.Glu361Gly) | |
| 17 | g.43094326T>G | CA10599642 | BRCA1 | c.1205A>C (p.Glu402Ala) c.1064A>C (p.Glu355Ala) c.787+418A>C (p.=) n.1341A>C n.1382A>C c.670+1520A>C (p.=) n.556A>C c.*988A>C (p.=) n.802A>C c.1127A>C (p.Glu376Ala) c.784+418A>C (p.=) n.409+418A>C (p.=) n.412+418A>C (p.=) c.*1141A>C (p.=) c.646+418A>C (p.=) c.317A>C (p.Glu106Ala) c.5-30375A>C (p.=) c.-43-19805A>C (p.=) c.-99+30945A>C (p.=) c.1082A>C (p.Glu361Ala) | |
| 17 | g.43094326dup | CA645509518 | BRCA1 | c.1205dup (p.Ser403ValfsTer2) c.1064dup (p.Ser356ValfsTer2) c.787+418dup (p.=) n.1341dup n.1382dup c.670+1520dup (p.=) n.556dup c.*988dup (p.=) n.802dup c.1127dup (p.Ser377ValfsTer2) c.784+418dup (p.=) n.409+418dup (p.=) n.412+418dup (p.=) c.*1141dup (p.=) c.646+418dup (p.=) c.317dup (p.Ser107ValfsTer2) c.5-30375dup (p.=) c.-43-19805dup (p.=) c.-99+30945dup (p.=) c.1082dup (p.Ser362ValfsTer2) | ClinVar dbSNP |
| 17 | g.43094327C>A | CA000794 | BRCA1 | c.1204G>T (p.Glu402Ter) c.1063G>T (p.Glu355Ter) c.787+417G>T (p.=) n.1340G>T n.1381G>T c.670+1519G>T (p.=) n.555G>T c.*987G>T (p.=) n.801G>T c.1126G>T (p.Glu376Ter) c.784+417G>T (p.=) n.409+417G>T (p.=) n.412+417G>T (p.=) c.*1140G>T (p.=) c.646+417G>T (p.=) c.316G>T (p.Glu106Ter) c.5-30376G>T (p.=) c.-43-19806G>T (p.=) c.-99+30944G>T (p.=) c.1081G>T (p.Glu361Ter) | ClinVar dbSNP |
| 17 | g.43094327C>G | CA10599643 | BRCA1 | c.1204G>C (p.Glu402Gln) c.1063G>C (p.Glu355Gln) c.787+417G>C (p.=) n.1340G>C n.1381G>C c.670+1519G>C (p.=) n.555G>C c.*987G>C (p.=) n.801G>C c.1126G>C (p.Glu376Gln) c.784+417G>C (p.=) n.409+417G>C (p.=) n.412+417G>C (p.=) c.*1140G>C (p.=) c.646+417G>C (p.=) c.316G>C (p.Glu106Gln) c.5-30376G>C (p.=) c.-43-19806G>C (p.=) c.-99+30944G>C (p.=) c.1081G>C (p.Glu361Gln) | |
| 17 | g.43094327C>T | CA10599644 | BRCA1 | c.1204G>A (p.Glu402Lys) c.1063G>A (p.Glu355Lys) c.787+417G>A (p.=) n.1340G>A n.1381G>A c.670+1519G>A (p.=) n.555G>A c.*987G>A (p.=) n.801G>A c.1126G>A (p.Glu376Lys) c.784+417G>A (p.=) n.409+417G>A (p.=) n.412+417G>A (p.=) c.*1140G>A (p.=) c.646+417G>A (p.=) c.316G>A (p.Glu106Lys) c.5-30376G>A (p.=) c.-43-19806G>A (p.=) c.-99+30944G>A (p.=) c.1081G>A (p.Glu361Lys) | ClinVar COSMIC COSMIC |
| 17 | g.43094327del | CA000793 | BRCA1 | c.1201del (p.Glu402SerfsTer8) c.1060del (p.Glu355SerfsTer8) c.787+414del (p.=) n.1337del n.1378del c.670+1516del (p.=) n.552del c.*984del (p.=) n.798del c.1123del (p.Glu376SerfsTer8) c.784+414del (p.=) n.409+414del (p.=) n.412+414del (p.=) c.*1137del (p.=) c.646+414del (p.=) c.313del (p.Glu106SerfsTer8) c.5-30379del (p.=) c.-43-19809del (p.=) c.-99+30941del (p.=) c.1078del (p.Glu361SerfsTer8) | ClinVar dbSNP |
| 17 | g.43094328C>A | CA500233575 | BRCA1 | c.1203G>T (p.Gly401=) c.1062G>T (p.Gly354=) c.787+416G>T (p.=) n.1339G>T n.1380G>T c.670+1518G>T (p.=) n.554G>T c.*986G>T (p.=) n.800G>T c.1125G>T (p.Gly375=) c.784+416G>T (p.=) n.409+416G>T (p.=) n.412+416G>T (p.=) c.*1139G>T (p.=) c.646+416G>T (p.=) c.315G>T (p.Gly105=) c.5-30377G>T (p.=) c.-43-19807G>T (p.=) c.-99+30943G>T (p.=) c.1080G>T (p.Gly360=) | |
| 17 | g.43094328C>G | CA500233576 | BRCA1 | c.1203G>C (p.Gly401=) c.1062G>C (p.Gly354=) c.787+416G>C (p.=) n.1339G>C n.1380G>C c.670+1518G>C (p.=) n.554G>C c.*986G>C (p.=) n.800G>C c.1125G>C (p.Gly375=) c.784+416G>C (p.=) n.409+416G>C (p.=) n.412+416G>C (p.=) c.*1139G>C (p.=) c.646+416G>C (p.=) c.315G>C (p.Gly105=) c.5-30377G>C (p.=) c.-43-19807G>C (p.=) c.-99+30943G>C (p.=) c.1080G>C (p.Gly360=) | |
| 17 | g.43094328C>T | CA500233577 | BRCA1 | c.1203G>A (p.Gly401=) c.1062G>A (p.Gly354=) c.787+416G>A (p.=) n.1339G>A n.1380G>A c.670+1518G>A (p.=) n.554G>A c.*986G>A (p.=) n.800G>A c.1125G>A (p.Gly375=) c.784+416G>A (p.=) n.409+416G>A (p.=) n.412+416G>A (p.=) c.*1139G>A (p.=) c.646+416G>A (p.=) c.315G>A (p.Gly105=) c.5-30377G>A (p.=) c.-43-19807G>A (p.=) c.-99+30943G>A (p.=) c.1080G>A (p.Gly360=) | ClinVar |
| 17 | g.43094329C>A | CA10599645 | BRCA1 | c.1202G>T (p.Gly401Val) c.1061G>T (p.Gly354Val) c.787+415G>T (p.=) n.1338G>T n.1379G>T c.670+1517G>T (p.=) n.553G>T c.*985G>T (p.=) n.799G>T c.1124G>T (p.Gly375Val) c.784+415G>T (p.=) n.409+415G>T (p.=) n.412+415G>T (p.=) c.*1138G>T (p.=) c.646+415G>T (p.=) c.314G>T (p.Gly105Val) c.5-30378G>T (p.=) c.-43-19808G>T (p.=) c.-99+30942G>T (p.=) c.1079G>T (p.Gly360Val) | |
| 17 | g.43094329C>G | CA000792 | BRCA1 | c.1202G>C (p.Gly401Ala) c.1061G>C (p.Gly354Ala) c.787+415G>C (p.=) n.1338G>C n.1379G>C c.670+1517G>C (p.=) n.553G>C c.*985G>C (p.=) n.799G>C c.1124G>C (p.Gly375Ala) c.784+415G>C (p.=) n.409+415G>C (p.=) n.412+415G>C (p.=) c.*1138G>C (p.=) c.646+415G>C (p.=) c.314G>C (p.Gly105Ala) c.5-30378G>C (p.=) c.-43-19808G>C (p.=) c.-99+30942G>C (p.=) c.1079G>C (p.Gly360Ala) | ClinVar dbSNP |
| 17 | g.43094329C>T | CA000791 | BRCA1 | c.1202G>A (p.Gly401Glu) c.1061G>A (p.Gly354Glu) c.787+415G>A (p.=) n.1338G>A n.1379G>A c.670+1517G>A (p.=) n.553G>A c.*985G>A (p.=) n.799G>A c.1124G>A (p.Gly375Glu) c.784+415G>A (p.=) n.409+415G>A (p.=) n.412+415G>A (p.=) c.*1138G>A (p.=) c.646+415G>A (p.=) c.314G>A (p.Gly105Glu) c.5-30378G>A (p.=) c.-43-19808G>A (p.=) c.-99+30942G>A (p.=) c.1079G>A (p.Gly360Glu) | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43094330C>A | CA10599646 | BRCA1 | c.1201G>T (p.Gly401Trp) c.1060G>T (p.Gly354Trp) c.787+414G>T (p.=) n.1337G>T n.1378G>T c.670+1516G>T (p.=) n.552G>T c.*984G>T (p.=) n.798G>T c.1123G>T (p.Gly375Trp) c.784+414G>T (p.=) n.409+414G>T (p.=) n.412+414G>T (p.=) c.*1137G>T (p.=) c.646+414G>T (p.=) c.313G>T (p.Gly105Trp) c.5-30379G>T (p.=) c.-43-19809G>T (p.=) c.-99+30941G>T (p.=) c.1078G>T (p.Gly360Trp) | |
| 17 | g.43094330C>G | CA10599647 | BRCA1 | c.1201G>C (p.Gly401Arg) c.1060G>C (p.Gly354Arg) c.787+414G>C (p.=) n.1337G>C n.1378G>C c.670+1516G>C (p.=) n.552G>C c.*984G>C (p.=) n.798G>C c.1123G>C (p.Gly375Arg) c.784+414G>C (p.=) n.409+414G>C (p.=) n.412+414G>C (p.=) c.*1137G>C (p.=) c.646+414G>C (p.=) c.313G>C (p.Gly105Arg) c.5-30379G>C (p.=) c.-43-19809G>C (p.=) c.-99+30941G>C (p.=) c.1078G>C (p.Gly360Arg) | |
| 17 | g.43094330C>T | CA10599648 | BRCA1 | c.1201G>A (p.Gly401Arg) c.1060G>A (p.Gly354Arg) c.787+414G>A (p.=) n.1337G>A n.1378G>A c.670+1516G>A (p.=) n.552G>A c.*984G>A (p.=) n.798G>A c.1123G>A (p.Gly375Arg) c.784+414G>A (p.=) n.409+414G>A (p.=) n.412+414G>A (p.=) c.*1137G>A (p.=) c.646+414G>A (p.=) c.313G>A (p.Gly105Arg) c.5-30379G>A (p.=) c.-43-19809G>A (p.=) c.-99+30941G>A (p.=) c.1078G>A (p.Gly360Arg) | ClinVar |
| 17 | g.43094331A>C | CA10599649 | BRCA1 | c.1200T>G (p.Asp400Glu) c.1059T>G (p.Asp353Glu) c.787+413T>G (p.=) n.1336T>G n.1377T>G c.670+1515T>G (p.=) n.551T>G c.*983T>G (p.=) n.797T>G c.1122T>G (p.Asp374Glu) c.784+413T>G (p.=) n.409+413T>G (p.=) n.412+413T>G (p.=) c.*1136T>G (p.=) c.646+413T>G (p.=) c.312T>G (p.Asp104Glu) c.5-30380T>G (p.=) c.-43-19810T>G (p.=) c.-99+30940T>G (p.=) c.1077T>G (p.Asp359Glu) | |
| 17 | g.43094331A>G | CA500233582 | BRCA1 | c.1200T>C (p.Asp400=) c.1059T>C (p.Asp353=) c.787+413T>C (p.=) n.1336T>C n.1377T>C c.670+1515T>C (p.=) n.551T>C c.*983T>C (p.=) n.797T>C c.1122T>C (p.Asp374=) c.784+413T>C (p.=) n.409+413T>C (p.=) n.412+413T>C (p.=) c.*1136T>C (p.=) c.646+413T>C (p.=) c.312T>C (p.Asp104=) c.5-30380T>C (p.=) c.-43-19810T>C (p.=) c.-99+30940T>C (p.=) c.1077T>C (p.Asp359=) | |
| 17 | g.43094331A>T | CA10599650 | BRCA1 | c.1200T>A (p.Asp400Glu) c.1059T>A (p.Asp353Glu) c.787+413T>A (p.=) n.1336T>A n.1377T>A c.670+1515T>A (p.=) n.551T>A c.*983T>A (p.=) n.797T>A c.1122T>A (p.Asp374Glu) c.784+413T>A (p.=) n.409+413T>A (p.=) n.412+413T>A (p.=) c.*1136T>A (p.=) c.646+413T>A (p.=) c.312T>A (p.Asp104Glu) c.5-30380T>A (p.=) c.-43-19810T>A (p.=) c.-99+30940T>A (p.=) c.1077T>A (p.Asp359Glu) | |
| 17 | g.43094332T>A | CA10599651 | BRCA1 | c.1199A>T (p.Asp400Val) c.1058A>T (p.Asp353Val) c.787+412A>T (p.=) n.1335A>T n.1376A>T c.670+1514A>T (p.=) n.550A>T c.*982A>T (p.=) n.796A>T c.1121A>T (p.Asp374Val) c.784+412A>T (p.=) n.409+412A>T (p.=) n.412+412A>T (p.=) c.*1135A>T (p.=) c.646+412A>T (p.=) c.311A>T (p.Asp104Val) c.5-30381A>T (p.=) c.-43-19811A>T (p.=) c.-99+30939A>T (p.=) c.1076A>T (p.Asp359Val) | |
| 17 | g.43094332T>C | CA10599652 | BRCA1 | c.1199A>G (p.Asp400Gly) c.1058A>G (p.Asp353Gly) c.787+412A>G (p.=) n.1335A>G n.1376A>G c.670+1514A>G (p.=) n.550A>G c.*982A>G (p.=) n.796A>G c.1121A>G (p.Asp374Gly) c.784+412A>G (p.=) n.409+412A>G (p.=) n.412+412A>G (p.=) c.*1135A>G (p.=) c.646+412A>G (p.=) c.311A>G (p.Asp104Gly) c.5-30381A>G (p.=) c.-43-19811A>G (p.=) c.-99+30939A>G (p.=) c.1076A>G (p.Asp359Gly) | ClinVar |
| 17 | g.43094332T>G | CA10599653 | BRCA1 | c.1199A>C (p.Asp400Ala) c.1058A>C (p.Asp353Ala) c.787+412A>C (p.=) n.1335A>C n.1376A>C c.670+1514A>C (p.=) n.550A>C c.*982A>C (p.=) n.796A>C c.1121A>C (p.Asp374Ala) c.784+412A>C (p.=) n.409+412A>C (p.=) n.412+412A>C (p.=) c.*1135A>C (p.=) c.646+412A>C (p.=) c.311A>C (p.Asp104Ala) c.5-30381A>C (p.=) c.-43-19811A>C (p.=) c.-99+30939A>C (p.=) c.1076A>C (p.Asp359Ala) | |
| 17 | g.43094333C>A | CA10599654 | BRCA1 | c.1198G>T (p.Asp400Tyr) c.1057G>T (p.Asp353Tyr) c.787+411G>T (p.=) n.1334G>T n.1375G>T c.670+1513G>T (p.=) n.549G>T c.*981G>T (p.=) n.795G>T c.1120G>T (p.Asp374Tyr) c.784+411G>T (p.=) n.409+411G>T (p.=) n.412+411G>T (p.=) c.*1134G>T (p.=) c.646+411G>T (p.=) c.310G>T (p.Asp104Tyr) c.5-30382G>T (p.=) c.-43-19812G>T (p.=) c.-99+30938G>T (p.=) c.1075G>T (p.Asp359Tyr) | |
| 17 | g.43094333C>G | CA10599655 | BRCA1 | c.1198G>C (p.Asp400His) c.1057G>C (p.Asp353His) c.787+411G>C (p.=) n.1334G>C n.1375G>C c.670+1513G>C (p.=) n.549G>C c.*981G>C (p.=) n.795G>C c.1120G>C (p.Asp374His) c.784+411G>C (p.=) n.409+411G>C (p.=) n.412+411G>C (p.=) c.*1134G>C (p.=) c.646+411G>C (p.=) c.310G>C (p.Asp104His) c.5-30382G>C (p.=) c.-43-19812G>C (p.=) c.-99+30938G>C (p.=) c.1075G>C (p.Asp359His) | |
| 17 | g.43094333C>T | CA10599656 | BRCA1 | c.1198G>A (p.Asp400Asn) c.1057G>A (p.Asp353Asn) c.787+411G>A (p.=) n.1334G>A n.1375G>A c.670+1513G>A (p.=) n.549G>A c.*981G>A (p.=) n.795G>A c.1120G>A (p.Asp374Asn) c.784+411G>A (p.=) n.409+411G>A (p.=) n.412+411G>A (p.=) c.*1134G>A (p.=) c.646+411G>A (p.=) c.310G>A (p.Asp104Asn) c.5-30382G>A (p.=) c.-43-19812G>A (p.=) c.-99+30938G>A (p.=) c.1075G>A (p.Asp359Asn) | |
| 17 | g.43094334A>C | CA10599657 | BRCA1 | c.1197T>G (p.His399Gln) c.1056T>G (p.His352Gln) c.787+410T>G (p.=) n.1333T>G n.1374T>G c.670+1512T>G (p.=) n.548T>G c.*980T>G (p.=) n.794T>G c.1119T>G (p.His373Gln) c.784+410T>G (p.=) n.409+410T>G (p.=) n.412+410T>G (p.=) c.*1133T>G (p.=) c.646+410T>G (p.=) c.309T>G (p.His103Gln) c.5-30383T>G (p.=) c.-43-19813T>G (p.=) c.-99+30937T>G (p.=) c.1074T>G (p.His358Gln) | |
| 17 | g.43094334A>G | CA500233587 | BRCA1 | c.1197T>C (p.His399=) c.1056T>C (p.His352=) c.787+410T>C (p.=) n.1333T>C n.1374T>C c.670+1512T>C (p.=) n.548T>C c.*980T>C (p.=) n.794T>C c.1119T>C (p.His373=) c.784+410T>C (p.=) n.409+410T>C (p.=) n.412+410T>C (p.=) c.*1133T>C (p.=) c.646+410T>C (p.=) c.309T>C (p.His103=) c.5-30383T>C (p.=) c.-43-19813T>C (p.=) c.-99+30937T>C (p.=) c.1074T>C (p.His358=) | ClinVar |
| 17 | g.43094334A>T | CA10599658 | BRCA1 | c.1197T>A (p.His399Gln) c.1056T>A (p.His352Gln) c.787+410T>A (p.=) n.1333T>A n.1374T>A c.670+1512T>A (p.=) n.548T>A c.*980T>A (p.=) n.794T>A c.1119T>A (p.His373Gln) c.784+410T>A (p.=) n.409+410T>A (p.=) n.412+410T>A (p.=) c.*1133T>A (p.=) c.646+410T>A (p.=) c.309T>A (p.His103Gln) c.5-30383T>A (p.=) c.-43-19813T>A (p.=) c.-99+30937T>A (p.=) c.1074T>A (p.His358Gln) | |
| 17 | g.43094335T>A | CA10599659 | BRCA1 | c.1196A>T (p.His399Leu) c.1055A>T (p.His352Leu) c.787+409A>T (p.=) n.1332A>T n.1373A>T c.670+1511A>T (p.=) n.547A>T c.*979A>T (p.=) n.793A>T c.1118A>T (p.His373Leu) c.784+409A>T (p.=) n.409+409A>T (p.=) n.412+409A>T (p.=) c.*1132A>T (p.=) c.646+409A>T (p.=) c.308A>T (p.His103Leu) c.5-30384A>T (p.=) c.-43-19814A>T (p.=) c.-99+30936A>T (p.=) c.1073A>T (p.His358Leu) | |
| 17 | g.43094335T>C | CA000787 | BRCA1 | c.1196A>G (p.His399Arg) c.1055A>G (p.His352Arg) c.787+409A>G (p.=) n.1332A>G n.1373A>G c.670+1511A>G (p.=) n.547A>G c.*979A>G (p.=) n.793A>G c.1118A>G (p.His373Arg) c.784+409A>G (p.=) n.409+409A>G (p.=) n.412+409A>G (p.=) c.*1132A>G (p.=) c.646+409A>G (p.=) c.308A>G (p.His103Arg) c.5-30384A>G (p.=) c.-43-19814A>G (p.=) c.-99+30936A>G (p.=) c.1073A>G (p.His358Arg) | ClinVar dbSNP gnomAD |
| 17 | g.43094335T>G | CA10599660 | BRCA1 | c.1196A>C (p.His399Pro) c.1055A>C (p.His352Pro) c.787+409A>C (p.=) n.1332A>C n.1373A>C c.670+1511A>C (p.=) n.547A>C c.*979A>C (p.=) n.793A>C c.1118A>C (p.His373Pro) c.784+409A>C (p.=) n.409+409A>C (p.=) n.412+409A>C (p.=) c.*1132A>C (p.=) c.646+409A>C (p.=) c.308A>C (p.His103Pro) c.5-30384A>C (p.=) c.-43-19814A>C (p.=) c.-99+30936A>C (p.=) c.1073A>C (p.His358Pro) | |
| 17 | g.43094336G>A | CA10599661 | BRCA1 | c.1195C>T (p.His399Tyr) c.1054C>T (p.His352Tyr) c.787+408C>T (p.=) n.1331C>T n.1372C>T c.670+1510C>T (p.=) n.546C>T c.*978C>T (p.=) n.792C>T c.1117C>T (p.His373Tyr) c.784+408C>T (p.=) n.409+408C>T (p.=) n.412+408C>T (p.=) c.*1131C>T (p.=) c.646+408C>T (p.=) c.307C>T (p.His103Tyr) c.5-30385C>T (p.=) c.-43-19815C>T (p.=) c.-99+30935C>T (p.=) c.1072C>T (p.His358Tyr) | |
| 17 | g.43094336G>C | CA10599662 | BRCA1 | c.1195C>G (p.His399Asp) c.1054C>G (p.His352Asp) c.787+408C>G (p.=) n.1331C>G n.1372C>G c.670+1510C>G (p.=) n.546C>G c.*978C>G (p.=) n.792C>G c.1117C>G (p.His373Asp) c.784+408C>G (p.=) n.409+408C>G (p.=) n.412+408C>G (p.=) c.*1131C>G (p.=) c.646+408C>G (p.=) c.307C>G (p.His103Asp) c.5-30385C>G (p.=) c.-43-19815C>G (p.=) c.-99+30935C>G (p.=) c.1072C>G (p.His358Asp) | |
| 17 | g.43094336G>T | CA10599663 | BRCA1 | c.1195C>A (p.His399Asn) c.1054C>A (p.His352Asn) c.787+408C>A (p.=) n.1331C>A n.1372C>A c.670+1510C>A (p.=) n.546C>A c.*978C>A (p.=) n.792C>A c.1117C>A (p.His373Asn) c.784+408C>A (p.=) n.409+408C>A (p.=) n.412+408C>A (p.=) c.*1131C>A (p.=) c.646+408C>A (p.=) c.307C>A (p.His103Asn) c.5-30385C>A (p.=) c.-43-19815C>A (p.=) c.-99+30935C>A (p.=) c.1072C>A (p.His358Asn) | |
| 17 | g.43094337T>A | CA500233593 | BRCA1 | c.1194A>T (p.Ser398=) c.1053A>T (p.Ser351=) c.787+407A>T (p.=) n.1330A>T n.1371A>T c.670+1509A>T (p.=) n.545A>T c.*977A>T (p.=) n.791A>T c.1116A>T (p.Ser372=) c.784+407A>T (p.=) n.409+407A>T (p.=) n.412+407A>T (p.=) c.*1130A>T (p.=) c.646+407A>T (p.=) c.306A>T (p.Ser102=) c.5-30386A>T (p.=) c.-43-19816A>T (p.=) c.-99+30934A>T (p.=) c.1071A>T (p.Ser357=) | |
| 17 | g.43094337T>C | CA500233590 | BRCA1 | c.1194A>G (p.Ser398=) c.1053A>G (p.Ser351=) c.787+407A>G (p.=) n.1330A>G n.1371A>G c.670+1509A>G (p.=) n.545A>G c.*977A>G (p.=) n.791A>G c.1116A>G (p.Ser372=) c.784+407A>G (p.=) n.409+407A>G (p.=) n.412+407A>G (p.=) c.*1130A>G (p.=) c.646+407A>G (p.=) c.306A>G (p.Ser102=) c.5-30386A>G (p.=) c.-43-19816A>G (p.=) c.-99+30934A>G (p.=) c.1071A>G (p.Ser357=) | |
| 17 | g.43094337T>G | CA500233592 | BRCA1 | c.1194A>C (p.Ser398=) c.1053A>C (p.Ser351=) c.787+407A>C (p.=) n.1330A>C n.1371A>C c.670+1509A>C (p.=) n.545A>C c.*977A>C (p.=) n.791A>C c.1116A>C (p.Ser372=) c.784+407A>C (p.=) n.409+407A>C (p.=) n.412+407A>C (p.=) c.*1130A>C (p.=) c.646+407A>C (p.=) c.306A>C (p.Ser102=) c.5-30386A>C (p.=) c.-43-19816A>C (p.=) c.-99+30934A>C (p.=) c.1071A>C (p.Ser357=) |