| 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.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=) | |
| 17 | g.43094337dup | CA658824535 | BRCA1 | c.1194dup (p.His399ThrfsTer2) c.1053dup (p.His352ThrfsTer2) c.787+407dup (p.=) n.1330dup n.1371dup c.670+1509dup (p.=) n.545dup c.*977dup (p.=) n.791dup c.1116dup (p.His373ThrfsTer2) c.784+407dup (p.=) n.409+407dup (p.=) n.412+407dup (p.=) c.*1130dup (p.=) c.646+407dup (p.=) c.306dup (p.His103ThrfsTer2) c.5-30386dup (p.=) c.-43-19816dup (p.=) c.-99+30934dup (p.=) c.1071dup (p.His358ThrfsTer2) | ClinVar dbSNP |
| 17 | g.43094338G>A | CA057085 | BRCA1 | c.1193C>T (p.Ser398Leu) c.1052C>T (p.Ser351Leu) c.787+406C>T (p.=) n.1329C>T n.1370C>T c.670+1508C>T (p.=) n.544C>T c.*976C>T (p.=) n.790C>T c.1115C>T (p.Ser372Leu) c.784+406C>T (p.=) n.409+406C>T (p.=) n.412+406C>T (p.=) c.*1129C>T (p.=) c.646+406C>T (p.=) c.305C>T (p.Ser102Leu) c.5-30387C>T (p.=) c.-43-19817C>T (p.=) c.-99+30933C>T (p.=) c.1070C>T (p.Ser357Leu) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094338G>C | CA000786 | BRCA1 | c.1193C>G (p.Ser398Ter) c.1052C>G (p.Ser351Ter) c.787+406C>G (p.=) n.1329C>G n.1370C>G c.670+1508C>G (p.=) n.544C>G c.*976C>G (p.=) n.790C>G c.1115C>G (p.Ser372Ter) c.784+406C>G (p.=) n.409+406C>G (p.=) n.412+406C>G (p.=) c.*1129C>G (p.=) c.646+406C>G (p.=) c.305C>G (p.Ser102Ter) c.5-30387C>G (p.=) c.-43-19817C>G (p.=) c.-99+30933C>G (p.=) c.1070C>G (p.Ser357Ter) | ClinVar dbSNP |
| 17 | g.43094338G>T | CA000785 | BRCA1 | c.1193C>A (p.Ser398Ter) c.1052C>A (p.Ser351Ter) c.787+406C>A (p.=) n.1329C>A n.1370C>A c.670+1508C>A (p.=) n.544C>A c.*976C>A (p.=) n.790C>A c.1115C>A (p.Ser372Ter) c.784+406C>A (p.=) n.409+406C>A (p.=) n.412+406C>A (p.=) c.*1129C>A (p.=) c.646+406C>A (p.=) c.305C>A (p.Ser102Ter) c.5-30387C>A (p.=) c.-43-19817C>A (p.=) c.-99+30933C>A (p.=) c.1070C>A (p.Ser357Ter) | ClinVar dbSNP |
| 17 | g.43094339A>C | CA10599664 | BRCA1 | c.1192T>G (p.Ser398Ala) c.1051T>G (p.Ser351Ala) c.787+405T>G (p.=) n.1328T>G n.1369T>G c.670+1507T>G (p.=) n.543T>G c.*975T>G (p.=) n.789T>G c.1114T>G (p.Ser372Ala) c.784+405T>G (p.=) n.409+405T>G (p.=) n.412+405T>G (p.=) c.*1128T>G (p.=) c.646+405T>G (p.=) c.304T>G (p.Ser102Ala) c.5-30388T>G (p.=) c.-43-19818T>G (p.=) c.-99+30932T>G (p.=) c.1069T>G (p.Ser357Ala) | ClinVar |
| 17 | g.43094339A>G | CA10599665 | BRCA1 | c.1192T>C (p.Ser398Pro) c.1051T>C (p.Ser351Pro) c.787+405T>C (p.=) n.1328T>C n.1369T>C c.670+1507T>C (p.=) n.543T>C c.*975T>C (p.=) n.789T>C c.1114T>C (p.Ser372Pro) c.784+405T>C (p.=) n.409+405T>C (p.=) n.412+405T>C (p.=) c.*1128T>C (p.=) c.646+405T>C (p.=) c.304T>C (p.Ser102Pro) c.5-30388T>C (p.=) c.-43-19818T>C (p.=) c.-99+30932T>C (p.=) c.1069T>C (p.Ser357Pro) | |
| 17 | g.43094339A>T | CA10599666 | BRCA1 | c.1192T>A (p.Ser398Thr) c.1051T>A (p.Ser351Thr) c.787+405T>A (p.=) n.1328T>A n.1369T>A c.670+1507T>A (p.=) n.543T>A c.*975T>A (p.=) n.789T>A c.1114T>A (p.Ser372Thr) c.784+405T>A (p.=) n.409+405T>A (p.=) n.412+405T>A (p.=) c.*1128T>A (p.=) c.646+405T>A (p.=) c.304T>A (p.Ser102Thr) c.5-30388T>A (p.=) c.-43-19818T>A (p.=) c.-99+30932T>A (p.=) c.1069T>A (p.Ser357Thr) | |
| 17 | g.43094340G>A | CA500233598 | BRCA1 | c.1191C>T (p.Asp397=) c.1050C>T (p.Asp350=) c.787+404C>T (p.=) n.1327C>T n.1368C>T c.670+1506C>T (p.=) n.542C>T c.*974C>T (p.=) n.788C>T c.1113C>T (p.Asp371=) c.784+404C>T (p.=) n.409+404C>T (p.=) n.412+404C>T (p.=) c.*1127C>T (p.=) c.646+404C>T (p.=) c.303C>T (p.Asp101=) c.5-30389C>T (p.=) c.-43-19819C>T (p.=) c.-99+30931C>T (p.=) c.1068C>T (p.Asp356=) | |
| 17 | g.43094340G>C | CA10599667 | BRCA1 | c.1191C>G (p.Asp397Glu) c.1050C>G (p.Asp350Glu) c.787+404C>G (p.=) n.1327C>G n.1368C>G c.670+1506C>G (p.=) n.542C>G c.*974C>G (p.=) n.788C>G c.1113C>G (p.Asp371Glu) c.784+404C>G (p.=) n.409+404C>G (p.=) n.412+404C>G (p.=) c.*1127C>G (p.=) c.646+404C>G (p.=) c.303C>G (p.Asp101Glu) c.5-30389C>G (p.=) c.-43-19819C>G (p.=) c.-99+30931C>G (p.=) c.1068C>G (p.Asp356Glu) | |
| 17 | g.43094340G>T | CA10599668 | BRCA1 | c.1191C>A (p.Asp397Glu) c.1050C>A (p.Asp350Glu) c.787+404C>A (p.=) n.1327C>A n.1368C>A c.670+1506C>A (p.=) n.542C>A c.*974C>A (p.=) n.788C>A c.1113C>A (p.Asp371Glu) c.784+404C>A (p.=) n.409+404C>A (p.=) n.412+404C>A (p.=) c.*1127C>A (p.=) c.646+404C>A (p.=) c.303C>A (p.Asp101Glu) c.5-30389C>A (p.=) c.-43-19819C>A (p.=) c.-99+30931C>A (p.=) c.1068C>A (p.Asp356Glu) | |
| 17 | g.43094341del | CA057081 | BRCA1 | c.1190del (p.Asp397AlafsTer13) c.1049del (p.Asp350AlafsTer13) c.787+403del (p.=) n.1326del n.1367del c.670+1505del (p.=) n.541del c.*973del (p.=) n.787del c.1112del (p.Asp371AlafsTer13) c.784+403del (p.=) n.409+403del (p.=) n.412+403del (p.=) c.*1126del (p.=) c.646+403del (p.=) c.302del (p.Asp101AlafsTer13) c.5-30390del (p.=) c.-43-19820del (p.=) c.-99+30930del (p.=) c.1067del (p.Asp356AlafsTer13) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094341T>A | CA057074 | BRCA1 | c.1190A>T (p.Asp397Val) c.1049A>T (p.Asp350Val) c.787+403A>T (p.=) n.1326A>T n.1367A>T c.670+1505A>T (p.=) n.541A>T c.*973A>T (p.=) n.787A>T c.1112A>T (p.Asp371Val) c.784+403A>T (p.=) n.409+403A>T (p.=) n.412+403A>T (p.=) c.*1126A>T (p.=) c.646+403A>T (p.=) c.302A>T (p.Asp101Val) c.5-30390A>T (p.=) c.-43-19820A>T (p.=) c.-99+30930A>T (p.=) c.1067A>T (p.Asp356Val) | ClinVar dbSNP ExAC gnomAD |
| 17 | g.43094341T>C | CA10599669 | BRCA1 | c.1190A>G (p.Asp397Gly) c.1049A>G (p.Asp350Gly) c.787+403A>G (p.=) n.1326A>G n.1367A>G c.670+1505A>G (p.=) n.541A>G c.*973A>G (p.=) n.787A>G c.1112A>G (p.Asp371Gly) c.784+403A>G (p.=) n.409+403A>G (p.=) n.412+403A>G (p.=) c.*1126A>G (p.=) c.646+403A>G (p.=) c.302A>G (p.Asp101Gly) c.5-30390A>G (p.=) c.-43-19820A>G (p.=) c.-99+30930A>G (p.=) c.1067A>G (p.Asp356Gly) | |
| 17 | g.43094341T>G | CA10599670 | BRCA1 | c.1190A>C (p.Asp397Ala) c.1049A>C (p.Asp350Ala) c.787+403A>C (p.=) n.1326A>C n.1367A>C c.670+1505A>C (p.=) n.541A>C c.*973A>C (p.=) n.787A>C c.1112A>C (p.Asp371Ala) c.784+403A>C (p.=) n.409+403A>C (p.=) n.412+403A>C (p.=) c.*1126A>C (p.=) c.646+403A>C (p.=) c.302A>C (p.Asp101Ala) c.5-30390A>C (p.=) c.-43-19820A>C (p.=) c.-99+30930A>C (p.=) c.1067A>C (p.Asp356Ala) | |
| 17 | g.43094342C>A | CA10599671 | BRCA1 | c.1189G>T (p.Asp397Tyr) c.1048G>T (p.Asp350Tyr) c.787+402G>T (p.=) n.1325G>T n.1366G>T c.670+1504G>T (p.=) n.540G>T c.*972G>T (p.=) n.786G>T c.1111G>T (p.Asp371Tyr) c.784+402G>T (p.=) n.409+402G>T (p.=) n.412+402G>T (p.=) c.*1125G>T (p.=) c.646+402G>T (p.=) c.301G>T (p.Asp101Tyr) c.5-30391G>T (p.=) c.-43-19821G>T (p.=) c.-99+30929G>T (p.=) c.1066G>T (p.Asp356Tyr) | |
| 17 | g.43094342C>G | CA10599672 | BRCA1 | c.1189G>C (p.Asp397His) c.1048G>C (p.Asp350His) c.787+402G>C (p.=) n.1325G>C n.1366G>C c.670+1504G>C (p.=) n.540G>C c.*972G>C (p.=) n.786G>C c.1111G>C (p.Asp371His) c.784+402G>C (p.=) n.409+402G>C (p.=) n.412+402G>C (p.=) c.*1125G>C (p.=) c.646+402G>C (p.=) c.301G>C (p.Asp101His) c.5-30391G>C (p.=) c.-43-19821G>C (p.=) c.-99+30929G>C (p.=) c.1066G>C (p.Asp356His) | |
| 17 | g.43094342C>T | CA10599673 | BRCA1 | c.1189G>A (p.Asp397Asn) c.1048G>A (p.Asp350Asn) c.787+402G>A (p.=) n.1325G>A n.1366G>A c.670+1504G>A (p.=) n.540G>A c.*972G>A (p.=) n.786G>A c.1111G>A (p.Asp371Asn) c.784+402G>A (p.=) n.409+402G>A (p.=) n.412+402G>A (p.=) c.*1125G>A (p.=) c.646+402G>A (p.=) c.301G>A (p.Asp101Asn) c.5-30391G>A (p.=) c.-43-19821G>A (p.=) c.-99+30929G>A (p.=) c.1066G>A (p.Asp356Asn) | |
| 17 | g.43094343del | CA000784 | BRCA1 | c.1188del (p.Asp396GlufsTer14) c.1047del (p.Asp349GlufsTer14) c.787+401del (p.=) n.1324del n.1365del c.670+1503del (p.=) n.539del c.*971del (p.=) n.785del c.1110del (p.Asp370GlufsTer14) c.784+401del (p.=) n.409+401del (p.=) n.412+401del (p.=) c.*1124del (p.=) c.646+401del (p.=) c.300del (p.Asp100GlufsTer14) c.5-30392del (p.=) c.-43-19822del (p.=) c.-99+30928del (p.=) c.1065del (p.Asp355GlufsTer14) | ClinVar dbSNP |
| 17 | g.43094343A>C | CA10599674 | BRCA1 | c.1188T>G (p.Asp396Glu) c.1047T>G (p.Asp349Glu) c.787+401T>G (p.=) n.1324T>G n.1365T>G c.670+1503T>G (p.=) n.539T>G c.*971T>G (p.=) n.785T>G c.1110T>G (p.Asp370Glu) c.784+401T>G (p.=) n.409+401T>G (p.=) n.412+401T>G (p.=) c.*1124T>G (p.=) c.646+401T>G (p.=) c.300T>G (p.Asp100Glu) c.5-30392T>G (p.=) c.-43-19822T>G (p.=) c.-99+30928T>G (p.=) c.1065T>G (p.Asp355Glu) | |
| 17 | g.43094343A>G | CA500233609 | BRCA1 | c.1188T>C (p.Asp396=) c.1047T>C (p.Asp349=) c.787+401T>C (p.=) n.1324T>C n.1365T>C c.670+1503T>C (p.=) n.539T>C c.*971T>C (p.=) n.785T>C c.1110T>C (p.Asp370=) c.784+401T>C (p.=) n.409+401T>C (p.=) n.412+401T>C (p.=) c.*1124T>C (p.=) c.646+401T>C (p.=) c.300T>C (p.Asp100=) c.5-30392T>C (p.=) c.-43-19822T>C (p.=) c.-99+30928T>C (p.=) c.1065T>C (p.Asp355=) | |
| 17 | g.43094343A>T | CA10599675 | BRCA1 | c.1188T>A (p.Asp396Glu) c.1047T>A (p.Asp349Glu) c.787+401T>A (p.=) n.1324T>A n.1365T>A c.670+1503T>A (p.=) n.539T>A c.*971T>A (p.=) n.785T>A c.1110T>A (p.Asp370Glu) c.784+401T>A (p.=) n.409+401T>A (p.=) n.412+401T>A (p.=) c.*1124T>A (p.=) c.646+401T>A (p.=) c.300T>A (p.Asp100Glu) c.5-30392T>A (p.=) c.-43-19822T>A (p.=) c.-99+30928T>A (p.=) c.1065T>A (p.Asp355Glu) | |
| 17 | g.43094344T>A | CA10599676 | BRCA1 | c.1187A>T (p.Asp396Val) c.1046A>T (p.Asp349Val) c.787+400A>T (p.=) n.1323A>T n.1364A>T c.670+1502A>T (p.=) n.538A>T c.*970A>T (p.=) n.784A>T c.1109A>T (p.Asp370Val) c.784+400A>T (p.=) n.409+400A>T (p.=) n.412+400A>T (p.=) c.*1123A>T (p.=) c.646+400A>T (p.=) c.299A>T (p.Asp100Val) c.5-30393A>T (p.=) c.-43-19823A>T (p.=) c.-99+30927A>T (p.=) c.1064A>T (p.Asp355Val) | ClinVar |
| 17 | g.43094344T>C | CA10599677 | BRCA1 | c.1187A>G (p.Asp396Gly) c.1046A>G (p.Asp349Gly) c.787+400A>G (p.=) n.1323A>G n.1364A>G c.670+1502A>G (p.=) n.538A>G c.*970A>G (p.=) n.784A>G c.1109A>G (p.Asp370Gly) c.784+400A>G (p.=) n.409+400A>G (p.=) n.412+400A>G (p.=) c.*1123A>G (p.=) c.646+400A>G (p.=) c.299A>G (p.Asp100Gly) c.5-30393A>G (p.=) c.-43-19823A>G (p.=) c.-99+30927A>G (p.=) c.1064A>G (p.Asp355Gly) | ClinVar |
| 17 | g.43094344T>G | CA10599678 | BRCA1 | c.1187A>C (p.Asp396Ala) c.1046A>C (p.Asp349Ala) c.787+400A>C (p.=) n.1323A>C n.1364A>C c.670+1502A>C (p.=) n.538A>C c.*970A>C (p.=) n.784A>C c.1109A>C (p.Asp370Ala) c.784+400A>C (p.=) n.409+400A>C (p.=) n.412+400A>C (p.=) c.*1123A>C (p.=) c.646+400A>C (p.=) c.299A>C (p.Asp100Ala) c.5-30393A>C (p.=) c.-43-19823A>C (p.=) c.-99+30927A>C (p.=) c.1064A>C (p.Asp355Ala) | |
| 17 | g.43094345C>A | CA10599679 | BRCA1 | c.1186G>T (p.Asp396Tyr) c.1045G>T (p.Asp349Tyr) c.787+399G>T (p.=) n.1322G>T n.1363G>T c.670+1501G>T (p.=) n.537G>T c.*969G>T (p.=) n.783G>T c.1108G>T (p.Asp370Tyr) c.784+399G>T (p.=) n.409+399G>T (p.=) n.412+399G>T (p.=) c.*1122G>T (p.=) c.646+399G>T (p.=) c.298G>T (p.Asp100Tyr) c.5-30394G>T (p.=) c.-43-19824G>T (p.=) c.-99+30926G>T (p.=) c.1063G>T (p.Asp355Tyr) | |
| 17 | g.43094345C>G | CA10599680 | BRCA1 | c.1186G>C (p.Asp396His) c.1045G>C (p.Asp349His) c.787+399G>C (p.=) n.1322G>C n.1363G>C c.670+1501G>C (p.=) n.537G>C c.*969G>C (p.=) n.783G>C c.1108G>C (p.Asp370His) c.784+399G>C (p.=) n.409+399G>C (p.=) n.412+399G>C (p.=) c.*1122G>C (p.=) c.646+399G>C (p.=) c.298G>C (p.Asp100His) c.5-30394G>C (p.=) c.-43-19824G>C (p.=) c.-99+30926G>C (p.=) c.1063G>C (p.Asp355His) | |
| 17 | g.43094345C>T | CA000782 | BRCA1 | c.1186G>A (p.Asp396Asn) c.1045G>A (p.Asp349Asn) c.787+399G>A (p.=) n.1322G>A n.1363G>A c.670+1501G>A (p.=) n.537G>A c.*969G>A (p.=) n.783G>A c.1108G>A (p.Asp370Asn) c.784+399G>A (p.=) n.409+399G>A (p.=) n.412+399G>A (p.=) c.*1122G>A (p.=) c.646+399G>A (p.=) c.298G>A (p.Asp100Asn) c.5-30394G>A (p.=) c.-43-19824G>A (p.=) c.-99+30926G>A (p.=) c.1063G>A (p.Asp355Asn) | ClinVar dbSNP |