Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43094311_43094354delinsGCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA2260784808BRCA1n.1241_1284delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.1177_1220delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu393=)
c.1051_1094delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu351=)
c.1174_1217delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu392=)
c.1099_1142delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu367=)
c.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.784+390_784+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.646+390_646+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.289_332delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu97=)
c.1054_1097delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu352=)
c.1036_1079delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (p.Leu346=)
c.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.664+390_664+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.706+390_706+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1185_*1228delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.670+1492_670+1535delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.528_571delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*960_*1003delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.787+390_787+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.774_817delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
c.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.409+390_409+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.412+390_412+433delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.*1113_*1156delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.5-30403_5-30360delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-43-19833_-43-19790delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
c.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC (n.-99+30917_-99+30960delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC)
n.1313_1356delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
n.1354_1397delinsTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATGC
17g.43094312_43094356delinsCATTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784810BRCA1n.1239_1283delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.1175_1219delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu392=)
c.1049_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu350=)
c.1172_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu391=)
c.1097_1141delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu366=)
c.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.784+388_784+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.646+388_646+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.287_331delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu96=)
c.1052_1096delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu351=)
c.1034_1078delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (p.Leu345=)
c.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.664+388_664+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.706+388_706+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1183_*1227delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.670+1490_670+1534delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.526_570delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*958_*1002delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.787+388_787+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.772_816delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
c.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.409+388_409+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.412+388_412+432delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.*1111_*1155delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.5-30405_5-30361delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-43-19835_-43-19791delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
c.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG (n.-99+30915_-99+30959delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG)
n.1311_1355delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
n.1352_1396delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAATG
17g.43094314_43094356delCA000780BRCA1n.1241_1283del
c.1177_1219del (p.Leu393ProfsTer3)
c.1051_1093del (p.Leu351ProfsTer3)
c.1174_1216del (p.Leu392ProfsTer3)
c.1099_1141del (p.Leu367ProfsTer3)
c.784+390_784+432del (n.784+390_784+432del)
c.646+390_646+432del (n.646+390_646+432del)
c.289_331del (p.Leu97ProfsTer3)
c.1054_1096del (p.Leu352ProfsTer3)
c.1036_1078del (p.Leu346ProfsTer3)
c.664+390_664+432del (n.664+390_664+432del)
c.706+390_706+432del (n.706+390_706+432del)
c.*1185_*1227del (n.*1185_*1227del)
c.670+1492_670+1534del (n.670+1492_670+1534del)
c.528_570del
c.*960_*1002del (n.*960_*1002del)
c.787+390_787+432del (n.787+390_787+432del)
c.774_816del
c.409+390_409+432del (n.409+390_409+432del)
c.412+390_412+432del (n.412+390_412+432del)
c.*1113_*1155del (n.*1113_*1155del)
c.5-30403_5-30361del (n.5-30403_5-30361del)
c.-43-19833_-43-19791del (n.-43-19833_-43-19791del)
c.-99+30917_-99+30959del (n.-99+30917_-99+30959del)
n.1313_1355del
n.1354_1396del
 ClinVar dbSNP
17g.43094313_43094356delCA000781BRCA1n.1239_1282del
c.1175_1218del (p.Leu392ArgfsTer5)
c.1049_1092del (p.Leu350ArgfsTer5)
c.1172_1215del (p.Leu391ArgfsTer5)
c.1097_1140del (p.Leu366ArgfsTer5)
c.784+388_784+431del (n.784+388_784+431del)
c.646+388_646+431del (n.646+388_646+431del)
c.287_330del (p.Leu96ArgfsTer5)
c.1052_1095del (p.Leu351ArgfsTer5)
c.1034_1077del (p.Leu345ArgfsTer5)
c.664+388_664+431del (n.664+388_664+431del)
c.706+388_706+431del (n.706+388_706+431del)
c.*1183_*1226del (n.*1183_*1226del)
c.670+1490_670+1533del (n.670+1490_670+1533del)
c.526_569del
c.*958_*1001del (n.*958_*1001del)
c.787+388_787+431del (n.787+388_787+431del)
c.772_815del
c.409+388_409+431del (n.409+388_409+431del)
c.412+388_412+431del (n.412+388_412+431del)
c.*1111_*1154del (n.*1111_*1154del)
c.5-30405_5-30362del (n.5-30405_5-30362del)
c.-43-19835_-43-19792del (n.-43-19835_-43-19792del)
c.-99+30915_-99+30958del (n.-99+30915_-99+30958del)
n.1311_1354del
n.1352_1395del
 ClinVar dbSNP
17g.43094314_43094356delinsTTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784813BRCA1n.1239_1281delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.1175_1217delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu392=)
c.1049_1091delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu350=)
c.1172_1214delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu391=)
c.1097_1139delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu366=)
c.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.784+388_784+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.646+388_646+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.287_329delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu96=)
c.1052_1094delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu351=)
c.1034_1076delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (p.Leu345=)
c.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.664+388_664+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.706+388_706+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1183_*1225delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.670+1490_670+1532delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.526_568delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*958_*1000delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.787+388_787+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.772_814delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
c.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.409+388_409+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.412+388_412+430delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.*1111_*1153delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.5-30405_5-30363delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-43-19835_-43-19793delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
c.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA (n.-99+30915_-99+30957delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA)
n.1311_1353delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
n.1352_1394delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAAA
17g.43094315_43094355delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACCA2260784815BRCA1n.1240_1280delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.1176_1216delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=)
c.1050_1090delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=)
c.1173_1213delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=)
c.1098_1138delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=)
c.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+389_784+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+389_646+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.288_328delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=)
c.1053_1093delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=)
c.1035_1075delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=)
c.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+389_664+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+389_706+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1184_*1224delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1491_670+1531delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.527_567delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*959_*999delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+389_787+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.773_813delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+389_409+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+389_412+429delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1112_*1152delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30404_5-30364delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19834_-43-19794delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30916_-99+30956delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
n.1312_1352delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
n.1353_1393delinsGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
17g.43094315_43094356delCA000779BRCA1n.1239_1280del
c.1175_1216del (p.Leu392_Asn406delinsHis)
c.1049_1090del (p.Leu350_Asn364delinsHis)
c.1172_1213del (p.Leu391_Asn405delinsHis)
c.1097_1138del (p.Leu366_Asn380delinsHis)
c.784+388_784+429del (n.784+388_784+429del)
c.646+388_646+429del (n.646+388_646+429del)
c.287_328del (p.Leu96_Asn110delinsHis)
c.1052_1093del (p.Leu351_Asn365delinsHis)
c.1034_1075del (p.Leu345_Asn359delinsHis)
c.664+388_664+429del (n.664+388_664+429del)
c.706+388_706+429del (n.706+388_706+429del)
c.*1183_*1224del (n.*1183_*1224del)
c.670+1490_670+1531del (n.670+1490_670+1531del)
c.526_567del
c.*958_*999del (n.*958_*999del)
c.787+388_787+429del (n.787+388_787+429del)
c.772_813del
c.409+388_409+429del (n.409+388_409+429del)
c.412+388_412+429del (n.412+388_412+429del)
c.*1111_*1152del (n.*1111_*1152del)
c.5-30405_5-30364del (n.5-30405_5-30364del)
c.-43-19835_-43-19794del (n.-43-19835_-43-19794del)
c.-99+30915_-99+30956del (n.-99+30915_-99+30956del)
n.1311_1352del
n.1352_1393del
 ClinVar dbSNP
17g.43094315_43094356delinsTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784814BRCA1n.1239_1280delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.1175_1216delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu392=)
c.1049_1090delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu350=)
c.1172_1213delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu391=)
c.1097_1138delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu366=)
c.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.784+388_784+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.646+388_646+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.287_328delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu96=)
c.1052_1093delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu351=)
c.1034_1075delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (p.Leu345=)
c.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.664+388_664+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.706+388_706+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1183_*1224delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.670+1490_670+1531delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.526_567delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*958_*999delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.787+388_787+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.772_813delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
c.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.409+388_409+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.412+388_412+429delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.*1111_*1152delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.5-30405_5-30364delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-43-19835_-43-19794delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
c.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA (n.-99+30915_-99+30956delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA)
n.1311_1352delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
n.1352_1393delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCAA
17g.43094316_43094355delCA658824533BRCA1n.1240_1279del
c.1176_1215del (p.Leu393MetfsTer4)
c.1050_1089del (p.Leu351MetfsTer4)
c.1173_1212del (p.Leu392MetfsTer4)
c.1098_1137del (p.Leu367MetfsTer4)
c.784+389_784+428del (n.784+389_784+428del)
c.646+389_646+428del (n.646+389_646+428del)
c.288_327del (p.Leu97MetfsTer4)
c.1053_1092del (p.Leu352MetfsTer4)
c.1035_1074del (p.Leu346MetfsTer4)
c.664+389_664+428del (n.664+389_664+428del)
c.706+389_706+428del (n.706+389_706+428del)
c.*1184_*1223del (n.*1184_*1223del)
c.670+1491_670+1530del (n.670+1491_670+1530del)
c.527_566del
c.*959_*998del (n.*959_*998del)
c.787+389_787+428del (n.787+389_787+428del)
c.773_812del
c.409+389_409+428del (n.409+389_409+428del)
c.412+389_412+428del (n.412+389_412+428del)
c.*1112_*1151del (n.*1112_*1151del)
c.5-30404_5-30365del (n.5-30404_5-30365del)
c.-43-19834_-43-19795del (n.-43-19834_-43-19795del)
c.-99+30916_-99+30955del (n.-99+30916_-99+30955del)
n.1312_1351del
n.1353_1392del
 ClinVar dbSNP
17g.43094316_43094356delCA000778BRCA1n.1239_1279del
c.1175_1215del (p.Leu392GlnfsTer6)
c.1049_1089del (p.Leu350GlnfsTer6)
c.1172_1212del (p.Leu391GlnfsTer6)
c.1097_1137del (p.Leu366GlnfsTer6)
c.784+388_784+428del (n.784+388_784+428del)
c.646+388_646+428del (n.646+388_646+428del)
c.287_327del (p.Leu96GlnfsTer6)
c.1052_1092del (p.Leu351GlnfsTer6)
c.1034_1074del (p.Leu345GlnfsTer6)
c.664+388_664+428del (n.664+388_664+428del)
c.706+388_706+428del (n.706+388_706+428del)
c.*1183_*1223del (n.*1183_*1223del)
c.670+1490_670+1530del (n.670+1490_670+1530del)
c.526_566del
c.*958_*998del (n.*958_*998del)
c.787+388_787+428del (n.787+388_787+428del)
c.772_812del
c.409+388_409+428del (n.409+388_409+428del)
c.412+388_412+428del (n.412+388_412+428del)
c.*1111_*1151del (n.*1111_*1151del)
c.5-30405_5-30365del (n.5-30405_5-30365del)
c.-43-19835_-43-19795del (n.-43-19835_-43-19795del)
c.-99+30915_-99+30955del (n.-99+30915_-99+30955del)
n.1311_1351del
n.1352_1392del
 ClinVar dbSNP
17g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACACA2260784817BRCA1n.1239_1279delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu392=)
c.1049_1089delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu350=)
c.1172_1212delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu391=)
c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu366=)
c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu96=)
c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu351=)
c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (p.Leu345=)
c.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.526_566delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.772_812delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
c.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
c.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA (n.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA)
n.1311_1351delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
n.1352_1392delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
17g.43094318_43094357delCA000776BRCA1n.1239_1278del
c.1175_1214del (p.Leu392GlnfsTer5)
c.1049_1088del (p.Leu350GlnfsTer5)
c.1172_1211del (p.Leu391GlnfsTer5)
c.1097_1136del (p.Leu366GlnfsTer5)
c.784+388_784+427del (n.784+388_784+427del)
c.646+388_646+427del (n.646+388_646+427del)
c.287_326del (p.Leu96GlnfsTer5)
c.1052_1091del (p.Leu351GlnfsTer5)
c.1034_1073del (p.Leu345GlnfsTer5)
c.664+388_664+427del (n.664+388_664+427del)
c.706+388_706+427del (n.706+388_706+427del)
c.*1183_*1222del (n.*1183_*1222del)
c.670+1490_670+1529del (n.670+1490_670+1529del)
c.526_565del
c.*958_*997del (n.*958_*997del)
c.787+388_787+427del (n.787+388_787+427del)
c.772_811del
c.409+388_409+427del (n.409+388_409+427del)
c.412+388_412+427del (n.412+388_412+427del)
c.*1111_*1150del (n.*1111_*1150del)
c.5-30405_5-30366del (n.5-30405_5-30366del)
c.-43-19835_-43-19796del (n.-43-19835_-43-19796del)
c.-99+30915_-99+30954del (n.-99+30915_-99+30954del)
n.1311_1350del
n.1352_1391del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43094324_43094331delinsACTCCCCACA2260784827BRCA1n.1264_1271delinsTGGGGAGT
c.1200_1207delinsTGGGGAGT (p.Asp400=)
c.1074_1081delinsTGGGGAGT (p.Asp358=)
c.1197_1204delinsTGGGGAGT (p.Asp399=)
c.1122_1129delinsTGGGGAGT (p.Asp374=)
c.784+413_784+420delinsTGGGGAGT (n.784+413_784+420delinsTGGGGAGT)
c.646+413_646+420delinsTGGGGAGT (n.646+413_646+420delinsTGGGGAGT)
c.312_319delinsTGGGGAGT (p.Asp104=)
c.1077_1084delinsTGGGGAGT (p.Asp359=)
c.1059_1066delinsTGGGGAGT (p.Asp353=)
c.664+413_664+420delinsTGGGGAGT (n.664+413_664+420delinsTGGGGAGT)
c.706+413_706+420delinsTGGGGAGT (n.706+413_706+420delinsTGGGGAGT)
c.*1208_*1215delinsTGGGGAGT (n.*1208_*1215delinsTGGGGAGT)
c.670+1515_670+1522delinsTGGGGAGT (n.670+1515_670+1522delinsTGGGGAGT)
c.551_558delinsTGGGGAGT
c.*983_*990delinsTGGGGAGT (n.*983_*990delinsTGGGGAGT)
c.787+413_787+420delinsTGGGGAGT (n.787+413_787+420delinsTGGGGAGT)
c.797_804delinsTGGGGAGT
c.409+413_409+420delinsTGGGGAGT (n.409+413_409+420delinsTGGGGAGT)
c.412+413_412+420delinsTGGGGAGT (n.412+413_412+420delinsTGGGGAGT)
c.*1136_*1143delinsTGGGGAGT (n.*1136_*1143delinsTGGGGAGT)
c.5-30380_5-30373delinsTGGGGAGT (n.5-30380_5-30373delinsTGGGGAGT)
c.-43-19810_-43-19803delinsTGGGGAGT (n.-43-19810_-43-19803delinsTGGGGAGT)
c.-99+30940_-99+30947delinsTGGGGAGT (n.-99+30940_-99+30947delinsTGGGGAGT)
n.1336_1343delinsTGGGGAGT
n.1377_1384delinsTGGGGAGT
17g.43094327_43094366delCA1139532220BRCA1n.1232_1271del
c.1168_1207del (p.Asp390LeufsTer7)
c.1042_1081del (p.Asp348LeufsTer7)
c.1165_1204del (p.Asp389LeufsTer7)
c.1090_1129del (p.Asp364LeufsTer7)
c.784+381_784+420del (n.784+381_784+420del)
c.646+381_646+420del (n.646+381_646+420del)
c.280_319del (p.Asp94LeufsTer7)
c.1045_1084del (p.Asp349LeufsTer7)
c.1027_1066del (p.Asp343LeufsTer7)
c.664+381_664+420del (n.664+381_664+420del)
c.706+381_706+420del (n.706+381_706+420del)
c.*1176_*1215del (n.*1176_*1215del)
c.670+1483_670+1522del (n.670+1483_670+1522del)
c.519_558del
c.*951_*990del (n.*951_*990del)
c.787+381_787+420del (n.787+381_787+420del)
c.765_804del
c.409+381_409+420del (n.409+381_409+420del)
c.412+381_412+420del (n.412+381_412+420del)
c.*1104_*1143del (n.*1104_*1143del)
c.5-30412_5-30373del (n.5-30412_5-30373del)
c.-43-19842_-43-19803del (n.-43-19842_-43-19803del)
c.-99+30908_-99+30947del (n.-99+30908_-99+30947del)
n.1304_1343del
n.1345_1384del
17g.43094325C>ACA10599638BRCA1n.1270G>T
c.1206G>T (p.Glu402Asp)
c.1080G>T (p.Glu360Asp)
c.1203G>T (p.Glu401Asp)
c.1128G>T (p.Glu376Asp)
c.784+419G>T (n.784+419G>T)
c.646+419G>T (n.646+419G>T)
c.318G>T (p.Glu106Asp)
c.1083G>T (p.Glu361Asp)
c.1065G>T (p.Glu355Asp)
c.664+419G>T (n.664+419G>T)
c.706+419G>T (n.706+419G>T)
c.*1214G>T (n.*1214G>T)
c.670+1521G>T (n.670+1521G>T)
c.557G>T
c.*989G>T (n.*989G>T)
c.787+419G>T (n.787+419G>T)
c.803G>T
c.409+419G>T (n.409+419G>T)
c.412+419G>T (n.412+419G>T)
c.*1142G>T (n.*1142G>T)
c.5-30374G>T (n.5-30374G>T)
c.-43-19804G>T (n.-43-19804G>T)
c.-99+30946G>T (n.-99+30946G>T)
n.1342G>T
n.1383G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43094325C=CA2260784828BRCA1n.1270G=
c.1206G= (p.Glu402=)
c.1080G= (p.Glu360=)
c.1203G= (p.Glu401=)
c.1128G= (p.Glu376=)
c.784+419G= (n.784+419G=)
c.646+419G= (n.646+419G=)
c.318G= (p.Glu106=)
c.1083G= (p.Glu361=)
c.1065G= (p.Glu355=)
c.664+419G= (n.664+419G=)
c.706+419G= (n.706+419G=)
c.*1214G= (n.*1214G=)
c.670+1521G= (n.670+1521G=)
c.557G=
c.*989G= (n.*989G=)
c.787+419G= (n.787+419G=)
c.803G=
c.409+419G= (n.409+419G=)
c.412+419G= (n.412+419G=)
c.*1142G= (n.*1142G=)
c.5-30374G= (n.5-30374G=)
c.-43-19804G= (n.-43-19804G=)
c.-99+30946G= (n.-99+30946G=)
n.1342G=
n.1383G=
17g.43094325C>GCA10599639BRCA1n.1270G>C
c.1206G>C (p.Glu402Asp)
c.1080G>C (p.Glu360Asp)
c.1203G>C (p.Glu401Asp)
c.1128G>C (p.Glu376Asp)
c.784+419G>C (n.784+419G>C)
c.646+419G>C (n.646+419G>C)
c.318G>C (p.Glu106Asp)
c.1083G>C (p.Glu361Asp)
c.1065G>C (p.Glu355Asp)
c.664+419G>C (n.664+419G>C)
c.706+419G>C (n.706+419G>C)
c.*1214G>C (n.*1214G>C)
c.670+1521G>C (n.670+1521G>C)
c.557G>C
c.*989G>C (n.*989G>C)
c.787+419G>C (n.787+419G>C)
c.803G>C
c.409+419G>C (n.409+419G>C)
c.412+419G>C (n.412+419G>C)
c.*1142G>C (n.*1142G>C)
c.5-30374G>C (n.5-30374G>C)
c.-43-19804G>C (n.-43-19804G>C)
c.-99+30946G>C (n.-99+30946G>C)
n.1342G>C
n.1383G>C
 ClinVar dbSNP
17g.43094325C>TCA500233570BRCA1n.1270G>A
c.1206G>A (p.Glu402=)
c.1080G>A (p.Glu360=)
c.1203G>A (p.Glu401=)
c.1128G>A (p.Glu376=)
c.784+419G>A (n.784+419G>A)
c.646+419G>A (n.646+419G>A)
c.318G>A (p.Glu106=)
c.1083G>A (p.Glu361=)
c.1065G>A (p.Glu355=)
c.664+419G>A (n.664+419G>A)
c.706+419G>A (n.706+419G>A)
c.*1214G>A (n.*1214G>A)
c.670+1521G>A (n.670+1521G>A)
c.557G>A
c.*989G>A (n.*989G>A)
c.787+419G>A (n.787+419G>A)
c.803G>A
c.409+419G>A (n.409+419G>A)
c.412+419G>A (n.412+419G>A)
c.*1142G>A (n.*1142G>A)
c.5-30374G>A (n.5-30374G>A)
c.-43-19804G>A (n.-43-19804G>A)
c.-99+30946G>A (n.-99+30946G>A)
n.1342G>A
n.1383G>A
 dbSNP
17g.43094325_43094331delinsACCTAACAGTTCATGTGAGCA658653707BRCA1n.1264_1270delinsCTCACATGAACTGTTAGGT
c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly)
c.1074_1080delinsCTCACATGAACTGTTAGGT (p.Gly359_Glu360delinsSerHisGluLeuLeuGly)
c.1197_1203delinsCTCACATGAACTGTTAGGT (p.Gly400_Glu401delinsSerHisGluLeuLeuGly)
c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly)
c.784+413_784+419delinsCTCACATGAACTGTTAGGT (n.784+413_784+419delinsCTCACATGAACTGTTAGGT)
c.646+413_646+419delinsCTCACATGAACTGTTAGGT (n.646+413_646+419delinsCTCACATGAACTGTTAGGT)
c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly)
c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly)
c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly)
c.664+413_664+419delinsCTCACATGAACTGTTAGGT (n.664+413_664+419delinsCTCACATGAACTGTTAGGT)
c.706+413_706+419delinsCTCACATGAACTGTTAGGT (n.706+413_706+419delinsCTCACATGAACTGTTAGGT)
c.*1208_*1214delinsCTCACATGAACTGTTAGGT (n.*1208_*1214delinsCTCACATGAACTGTTAGGT)
c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (n.670+1515_670+1521delinsCTCACATGAACTGTTAGGT)
c.551_557delinsCTCACATGAACTGTTAGGT
c.*983_*989delinsCTCACATGAACTGTTAGGT (n.*983_*989delinsCTCACATGAACTGTTAGGT)
c.787+413_787+419delinsCTCACATGAACTGTTAGGT (n.787+413_787+419delinsCTCACATGAACTGTTAGGT)
c.797_803delinsCTCACATGAACTGTTAGGT
c.409+413_409+419delinsCTCACATGAACTGTTAGGT (n.409+413_409+419delinsCTCACATGAACTGTTAGGT)
c.412+413_412+419delinsCTCACATGAACTGTTAGGT (n.412+413_412+419delinsCTCACATGAACTGTTAGGT)
c.*1136_*1142delinsCTCACATGAACTGTTAGGT (n.*1136_*1142delinsCTCACATGAACTGTTAGGT)
c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (n.5-30380_5-30374delinsCTCACATGAACTGTTAGGT)
c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (n.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT)
c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (n.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT)
n.1336_1342delinsCTCACATGAACTGTTAGGT
n.1377_1383delinsCTCACATGAACTGTTAGGT
 ClinVar dbSNP
17g.43094326delCA2695226284BRCA1n.1269del
c.1205del (p.Glu402GlyfsTer8)
c.1079del (p.Glu360GlyfsTer8)
c.1202del (p.Glu401GlyfsTer8)
c.1127del (p.Glu376GlyfsTer8)
c.784+418del (n.784+418del)
c.646+418del (n.646+418del)
c.317del (p.Glu106GlyfsTer8)
c.1082del (p.Glu361GlyfsTer8)
c.1064del (p.Glu355GlyfsTer8)
c.664+418del (n.664+418del)
c.706+418del (n.706+418del)
c.*1213del (n.*1213del)
c.670+1520del (n.670+1520del)
c.556del
c.*988del (n.*988del)
c.787+418del (n.787+418del)
c.802del
c.409+418del (n.409+418del)
c.412+418del (n.412+418del)
c.*1141del (n.*1141del)
c.5-30375del (n.5-30375del)
c.-43-19805del (n.-43-19805del)
c.-99+30945del (n.-99+30945del)
n.1341del
n.1382del
17g.43094326T>ACA10599640BRCA1n.1269A>T
c.1205A>T (p.Glu402Val)
c.1079A>T (p.Glu360Val)
c.1202A>T (p.Glu401Val)
c.1127A>T (p.Glu376Val)
c.784+418A>T (n.784+418A>T)
c.646+418A>T (n.646+418A>T)
c.317A>T (p.Glu106Val)
c.1082A>T (p.Glu361Val)
c.1064A>T (p.Glu355Val)
c.664+418A>T (n.664+418A>T)
c.706+418A>T (n.706+418A>T)
c.*1213A>T (n.*1213A>T)
c.670+1520A>T (n.670+1520A>T)
c.556A>T
c.*988A>T (n.*988A>T)
c.787+418A>T (n.787+418A>T)
c.802A>T
c.409+418A>T (n.409+418A>T)
c.412+418A>T (n.412+418A>T)
c.*1141A>T (n.*1141A>T)
c.5-30375A>T (n.5-30375A>T)
c.-43-19805A>T (n.-43-19805A>T)
c.-99+30945A>T (n.-99+30945A>T)
n.1341A>T
n.1382A>T
 ClinVar dbSNP
17g.43094326T>CCA10599641BRCA1n.1269A>G
c.1205A>G (p.Glu402Gly)
c.1079A>G (p.Glu360Gly)
c.1202A>G (p.Glu401Gly)
c.1127A>G (p.Glu376Gly)
c.784+418A>G (n.784+418A>G)
c.646+418A>G (n.646+418A>G)
c.317A>G (p.Glu106Gly)
c.1082A>G (p.Glu361Gly)
c.1064A>G (p.Glu355Gly)
c.664+418A>G (n.664+418A>G)
c.706+418A>G (n.706+418A>G)
c.*1213A>G (n.*1213A>G)
c.670+1520A>G (n.670+1520A>G)
c.556A>G
c.*988A>G (n.*988A>G)
c.787+418A>G (n.787+418A>G)
c.802A>G
c.409+418A>G (n.409+418A>G)
c.412+418A>G (n.412+418A>G)
c.*1141A>G (n.*1141A>G)
c.5-30375A>G (n.5-30375A>G)
c.-43-19805A>G (n.-43-19805A>G)
c.-99+30945A>G (n.-99+30945A>G)
n.1341A>G
n.1382A>G
 ClinVar dbSNP
17g.43094326T>GCA10599642BRCA1n.1269A>C
c.1205A>C (p.Glu402Ala)
c.1079A>C (p.Glu360Ala)
c.1202A>C (p.Glu401Ala)
c.1127A>C (p.Glu376Ala)
c.784+418A>C (n.784+418A>C)
c.646+418A>C (n.646+418A>C)
c.317A>C (p.Glu106Ala)
c.1082A>C (p.Glu361Ala)
c.1064A>C (p.Glu355Ala)
c.664+418A>C (n.664+418A>C)
c.706+418A>C (n.706+418A>C)
c.*1213A>C (n.*1213A>C)
c.670+1520A>C (n.670+1520A>C)
c.556A>C
c.*988A>C (n.*988A>C)
c.787+418A>C (n.787+418A>C)
c.802A>C
c.409+418A>C (n.409+418A>C)
c.412+418A>C (n.412+418A>C)
c.*1141A>C (n.*1141A>C)
c.5-30375A>C (n.5-30375A>C)
c.-43-19805A>C (n.-43-19805A>C)
c.-99+30945A>C (n.-99+30945A>C)
n.1341A>C
n.1382A>C
17g.43094326T=CA2260784830BRCA1n.1269A=
c.1205A= (p.Glu402=)
c.1079A= (p.Glu360=)
c.1202A= (p.Glu401=)
c.1127A= (p.Glu376=)
c.784+418A= (n.784+418A=)
c.646+418A= (n.646+418A=)
c.317A= (p.Glu106=)
c.1082A= (p.Glu361=)
c.1064A= (p.Glu355=)
c.664+418A= (n.664+418A=)
c.706+418A= (n.706+418A=)
c.*1213A= (n.*1213A=)
c.670+1520A= (n.670+1520A=)
c.556A=
c.*988A= (n.*988A=)
c.787+418A= (n.787+418A=)
c.802A=
c.409+418A= (n.409+418A=)
c.412+418A= (n.412+418A=)
c.*1141A= (n.*1141A=)
c.5-30375A= (n.5-30375A=)
c.-43-19805A= (n.-43-19805A=)
c.-99+30945A= (n.-99+30945A=)
n.1341A=
n.1382A=
17g.43094326dupCA645509518BRCA1n.1269dup
c.1205dup (p.Ser403ValfsTer2)
c.1079dup (p.Ser361ValfsTer2)
c.1202dup (p.Ser402ValfsTer2)
c.1127dup (p.Ser377ValfsTer2)
c.784+418dup (n.784+418dup)
c.646+418dup (n.646+418dup)
c.317dup (p.Ser107ValfsTer2)
c.1082dup (p.Ser362ValfsTer2)
c.1064dup (p.Ser356ValfsTer2)
c.664+418dup (n.664+418dup)
c.706+418dup (n.706+418dup)
c.*1213dup (n.*1213dup)
c.670+1520dup (n.670+1520dup)
c.556dup
c.*988dup (n.*988dup)
c.787+418dup (n.787+418dup)
c.802dup
c.409+418dup (n.409+418dup)
c.412+418dup (n.412+418dup)
c.*1141dup (n.*1141dup)
c.5-30375dup (n.5-30375dup)
c.-43-19805dup (n.-43-19805dup)
c.-99+30945dup (n.-99+30945dup)
n.1341dup
n.1382dup
 ClinVar dbSNP
17g.43094326_43094327delinsTCCA2260784829BRCA1n.1268_1269delinsGA
c.1204_1205delinsGA (p.Glu402=)
c.1078_1079delinsGA (p.Glu360=)
c.1201_1202delinsGA (p.Glu401=)
c.1126_1127delinsGA (p.Glu376=)
c.784+417_784+418delinsGA (n.784+417_784+418delinsGA)
c.646+417_646+418delinsGA (n.646+417_646+418delinsGA)
c.316_317delinsGA (p.Glu106=)
c.1081_1082delinsGA (p.Glu361=)
c.1063_1064delinsGA (p.Glu355=)
c.664+417_664+418delinsGA (n.664+417_664+418delinsGA)
c.706+417_706+418delinsGA (n.706+417_706+418delinsGA)
c.*1212_*1213delinsGA (n.*1212_*1213delinsGA)
c.670+1519_670+1520delinsGA (n.670+1519_670+1520delinsGA)
c.555_556delinsGA
c.*987_*988delinsGA (n.*987_*988delinsGA)
c.787+417_787+418delinsGA (n.787+417_787+418delinsGA)
c.801_802delinsGA
c.409+417_409+418delinsGA (n.409+417_409+418delinsGA)
c.412+417_412+418delinsGA (n.412+417_412+418delinsGA)
c.*1140_*1141delinsGA (n.*1140_*1141delinsGA)
c.5-30376_5-30375delinsGA (n.5-30376_5-30375delinsGA)
c.-43-19806_-43-19805delinsGA (n.-43-19806_-43-19805delinsGA)
c.-99+30944_-99+30945delinsGA (n.-99+30944_-99+30945delinsGA)
n.1340_1341delinsGA
n.1381_1382delinsGA
17g.43094327C>ACA000794BRCA1n.1268G>T
c.1204G>T (p.Glu402Ter)
c.1078G>T (p.Glu360Ter)
c.1201G>T (p.Glu401Ter)
c.1126G>T (p.Glu376Ter)
c.784+417G>T (n.784+417G>T)
c.646+417G>T (n.646+417G>T)
c.316G>T (p.Glu106Ter)
c.1081G>T (p.Glu361Ter)
c.1063G>T (p.Glu355Ter)
c.664+417G>T (n.664+417G>T)
c.706+417G>T (n.706+417G>T)
c.*1212G>T (n.*1212G>T)
c.670+1519G>T (n.670+1519G>T)
c.555G>T
c.*987G>T (n.*987G>T)
c.787+417G>T (n.787+417G>T)
c.801G>T
c.409+417G>T (n.409+417G>T)
c.412+417G>T (n.412+417G>T)
c.*1140G>T (n.*1140G>T)
c.5-30376G>T (n.5-30376G>T)
c.-43-19806G>T (n.-43-19806G>T)
c.-99+30944G>T (n.-99+30944G>T)
n.1340G>T
n.1381G>T
 ClinVar dbSNP
17g.43094327C=CA2260784831BRCA1n.1268G=
c.1204G= (p.Glu402=)
c.1078G= (p.Glu360=)
c.1201G= (p.Glu401=)
c.1126G= (p.Glu376=)
c.784+417G= (n.784+417G=)
c.646+417G= (n.646+417G=)
c.316G= (p.Glu106=)
c.1081G= (p.Glu361=)
c.1063G= (p.Glu355=)
c.664+417G= (n.664+417G=)
c.706+417G= (n.706+417G=)
c.*1212G= (n.*1212G=)
c.670+1519G= (n.670+1519G=)
c.555G=
c.*987G= (n.*987G=)
c.787+417G= (n.787+417G=)
c.801G=
c.409+417G= (n.409+417G=)
c.412+417G= (n.412+417G=)
c.*1140G= (n.*1140G=)
c.5-30376G= (n.5-30376G=)
c.-43-19806G= (n.-43-19806G=)
c.-99+30944G= (n.-99+30944G=)
n.1340G=
n.1381G=
17g.43094327C>GCA10599643BRCA1n.1268G>C
c.1204G>C (p.Glu402Gln)
c.1078G>C (p.Glu360Gln)
c.1201G>C (p.Glu401Gln)
c.1126G>C (p.Glu376Gln)
c.784+417G>C (n.784+417G>C)
c.646+417G>C (n.646+417G>C)
c.316G>C (p.Glu106Gln)
c.1081G>C (p.Glu361Gln)
c.1063G>C (p.Glu355Gln)
c.664+417G>C (n.664+417G>C)
c.706+417G>C (n.706+417G>C)
c.*1212G>C (n.*1212G>C)
c.670+1519G>C (n.670+1519G>C)
c.555G>C
c.*987G>C (n.*987G>C)
c.787+417G>C (n.787+417G>C)
c.801G>C
c.409+417G>C (n.409+417G>C)
c.412+417G>C (n.412+417G>C)
c.*1140G>C (n.*1140G>C)
c.5-30376G>C (n.5-30376G>C)
c.-43-19806G>C (n.-43-19806G>C)
c.-99+30944G>C (n.-99+30944G>C)
n.1340G>C
n.1381G>C
 dbSNP
17g.43094327C>TCA10599644BRCA1n.1268G>A
c.1204G>A (p.Glu402Lys)
c.1078G>A (p.Glu360Lys)
c.1201G>A (p.Glu401Lys)
c.1126G>A (p.Glu376Lys)
c.784+417G>A (n.784+417G>A)
c.646+417G>A (n.646+417G>A)
c.316G>A (p.Glu106Lys)
c.1081G>A (p.Glu361Lys)
c.1063G>A (p.Glu355Lys)
c.664+417G>A (n.664+417G>A)
c.706+417G>A (n.706+417G>A)
c.*1212G>A (n.*1212G>A)
c.670+1519G>A (n.670+1519G>A)
c.555G>A
c.*987G>A (n.*987G>A)
c.787+417G>A (n.787+417G>A)
c.801G>A
c.409+417G>A (n.409+417G>A)
c.412+417G>A (n.412+417G>A)
c.*1140G>A (n.*1140G>A)
c.5-30376G>A (n.5-30376G>A)
c.-43-19806G>A (n.-43-19806G>A)
c.-99+30944G>A (n.-99+30944G>A)
n.1340G>A
n.1381G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43094330delCA000793BRCA1n.1268del
c.1204del (p.Glu402SerfsTer8)
c.1078del (p.Glu360SerfsTer8)
c.1201del (p.Glu401SerfsTer8)
c.1126del (p.Glu376SerfsTer8)
c.784+417del (n.784+417del)
c.646+417del (n.646+417del)
c.316del (p.Glu106SerfsTer8)
c.1081del (p.Glu361SerfsTer8)
c.1063del (p.Glu355SerfsTer8)
c.664+417del (n.664+417del)
c.706+417del (n.706+417del)
c.*1212del (n.*1212del)
c.670+1519del (n.670+1519del)
c.555del
c.*987del (n.*987del)
c.787+417del (n.787+417del)
c.801del
c.409+417del (n.409+417del)
c.412+417del (n.412+417del)
c.*1140del (n.*1140del)
c.5-30376del (n.5-30376del)
c.-43-19806del (n.-43-19806del)
c.-99+30944del (n.-99+30944del)
n.1340del
n.1381del
 ClinVar dbSNP
17g.43094328C>ACA500233575BRCA1n.1267G>T
c.1203G>T (p.Gly401=)
c.1077G>T (p.Gly359=)
c.1200G>T (p.Gly400=)
c.1125G>T (p.Gly375=)
c.784+416G>T (n.784+416G>T)
c.646+416G>T (n.646+416G>T)
c.315G>T (p.Gly105=)
c.1080G>T (p.Gly360=)
c.1062G>T (p.Gly354=)
c.664+416G>T (n.664+416G>T)
c.706+416G>T (n.706+416G>T)
c.*1211G>T (n.*1211G>T)
c.670+1518G>T (n.670+1518G>T)
c.554G>T
c.*986G>T (n.*986G>T)
c.787+416G>T (n.787+416G>T)
c.800G>T
c.409+416G>T (n.409+416G>T)
c.412+416G>T (n.412+416G>T)
c.*1139G>T (n.*1139G>T)
c.5-30377G>T (n.5-30377G>T)
c.-43-19807G>T (n.-43-19807G>T)
c.-99+30943G>T (n.-99+30943G>T)
n.1339G>T
n.1380G>T
 dbSNP
17g.43094328C=CA2260784832BRCA1n.1267G=
c.1203G= (p.Gly401=)
c.1077G= (p.Gly359=)
c.1200G= (p.Gly400=)
c.1125G= (p.Gly375=)
c.784+416G= (n.784+416G=)
c.646+416G= (n.646+416G=)
c.315G= (p.Gly105=)
c.1080G= (p.Gly360=)
c.1062G= (p.Gly354=)
c.664+416G= (n.664+416G=)
c.706+416G= (n.706+416G=)
c.*1211G= (n.*1211G=)
c.670+1518G= (n.670+1518G=)
c.554G=
c.*986G= (n.*986G=)
c.787+416G= (n.787+416G=)
c.800G=
c.409+416G= (n.409+416G=)
c.412+416G= (n.412+416G=)
c.*1139G= (n.*1139G=)
c.5-30377G= (n.5-30377G=)
c.-43-19807G= (n.-43-19807G=)
c.-99+30943G= (n.-99+30943G=)
n.1339G=
n.1380G=
17g.43094328C>GCA500233576BRCA1n.1267G>C
c.1203G>C (p.Gly401=)
c.1077G>C (p.Gly359=)
c.1200G>C (p.Gly400=)
c.1125G>C (p.Gly375=)
c.784+416G>C (n.784+416G>C)
c.646+416G>C (n.646+416G>C)
c.315G>C (p.Gly105=)
c.1080G>C (p.Gly360=)
c.1062G>C (p.Gly354=)
c.664+416G>C (n.664+416G>C)
c.706+416G>C (n.706+416G>C)
c.*1211G>C (n.*1211G>C)
c.670+1518G>C (n.670+1518G>C)
c.554G>C
c.*986G>C (n.*986G>C)
c.787+416G>C (n.787+416G>C)
c.800G>C
c.409+416G>C (n.409+416G>C)
c.412+416G>C (n.412+416G>C)
c.*1139G>C (n.*1139G>C)
c.5-30377G>C (n.5-30377G>C)
c.-43-19807G>C (n.-43-19807G>C)
c.-99+30943G>C (n.-99+30943G>C)
n.1339G>C
n.1380G>C
 dbSNP
17g.43094328C>TCA500233577BRCA1n.1267G>A
c.1203G>A (p.Gly401=)
c.1077G>A (p.Gly359=)
c.1200G>A (p.Gly400=)
c.1125G>A (p.Gly375=)
c.784+416G>A (n.784+416G>A)
c.646+416G>A (n.646+416G>A)
c.315G>A (p.Gly105=)
c.1080G>A (p.Gly360=)
c.1062G>A (p.Gly354=)
c.664+416G>A (n.664+416G>A)
c.706+416G>A (n.706+416G>A)
c.*1211G>A (n.*1211G>A)
c.670+1518G>A (n.670+1518G>A)
c.554G>A
c.*986G>A (n.*986G>A)
c.787+416G>A (n.787+416G>A)
c.800G>A
c.409+416G>A (n.409+416G>A)
c.412+416G>A (n.412+416G>A)
c.*1139G>A (n.*1139G>A)
c.5-30377G>A (n.5-30377G>A)
c.-43-19807G>A (n.-43-19807G>A)
c.-99+30943G>A (n.-99+30943G>A)
n.1339G>A
n.1380G>A
 ClinVar dbSNP
17g.43094329C>ACA10599645BRCA1n.1266G>T
c.1202G>T (p.Gly401Val)
c.1076G>T (p.Gly359Val)
c.1199G>T (p.Gly400Val)
c.1124G>T (p.Gly375Val)
c.784+415G>T (n.784+415G>T)
c.646+415G>T (n.646+415G>T)
c.314G>T (p.Gly105Val)
c.1079G>T (p.Gly360Val)
c.1061G>T (p.Gly354Val)
c.664+415G>T (n.664+415G>T)
c.706+415G>T (n.706+415G>T)
c.*1210G>T (n.*1210G>T)
c.670+1517G>T (n.670+1517G>T)
c.553G>T
c.*985G>T (n.*985G>T)
c.787+415G>T (n.787+415G>T)
c.799G>T
c.409+415G>T (n.409+415G>T)
c.412+415G>T (n.412+415G>T)
c.*1138G>T (n.*1138G>T)
c.5-30378G>T (n.5-30378G>T)
c.-43-19808G>T (n.-43-19808G>T)
c.-99+30942G>T (n.-99+30942G>T)
n.1338G>T
n.1379G>T
 dbSNP
17g.43094329C=CA2260784833BRCA1n.1266G=
c.1202G= (p.Gly401=)
c.1076G= (p.Gly359=)
c.1199G= (p.Gly400=)
c.1124G= (p.Gly375=)
c.784+415G= (n.784+415G=)
c.646+415G= (n.646+415G=)
c.314G= (p.Gly105=)
c.1079G= (p.Gly360=)
c.1061G= (p.Gly354=)
c.664+415G= (n.664+415G=)
c.706+415G= (n.706+415G=)
c.*1210G= (n.*1210G=)
c.670+1517G= (n.670+1517G=)
c.553G=
c.*985G= (n.*985G=)
c.787+415G= (n.787+415G=)
c.799G=
c.409+415G= (n.409+415G=)
c.412+415G= (n.412+415G=)
c.*1138G= (n.*1138G=)
c.5-30378G= (n.5-30378G=)
c.-43-19808G= (n.-43-19808G=)
c.-99+30942G= (n.-99+30942G=)
n.1338G=
n.1379G=
17g.43094329C>GCA000792BRCA1n.1266G>C
c.1202G>C (p.Gly401Ala)
c.1076G>C (p.Gly359Ala)
c.1199G>C (p.Gly400Ala)
c.1124G>C (p.Gly375Ala)
c.784+415G>C (n.784+415G>C)
c.646+415G>C (n.646+415G>C)
c.314G>C (p.Gly105Ala)
c.1079G>C (p.Gly360Ala)
c.1061G>C (p.Gly354Ala)
c.664+415G>C (n.664+415G>C)
c.706+415G>C (n.706+415G>C)
c.*1210G>C (n.*1210G>C)
c.670+1517G>C (n.670+1517G>C)
c.553G>C
c.*985G>C (n.*985G>C)
c.787+415G>C (n.787+415G>C)
c.799G>C
c.409+415G>C (n.409+415G>C)
c.412+415G>C (n.412+415G>C)
c.*1138G>C (n.*1138G>C)
c.5-30378G>C (n.5-30378G>C)
c.-43-19808G>C (n.-43-19808G>C)
c.-99+30942G>C (n.-99+30942G>C)
n.1338G>C
n.1379G>C
 ClinVar dbSNP gnomAD v4
17g.43094329C>TCA000791BRCA1n.1266G>A
c.1202G>A (p.Gly401Glu)
c.1076G>A (p.Gly359Glu)
c.1199G>A (p.Gly400Glu)
c.1124G>A (p.Gly375Glu)
c.784+415G>A (n.784+415G>A)
c.646+415G>A (n.646+415G>A)
c.314G>A (p.Gly105Glu)
c.1079G>A (p.Gly360Glu)
c.1061G>A (p.Gly354Glu)
c.664+415G>A (n.664+415G>A)
c.706+415G>A (n.706+415G>A)
c.*1210G>A (n.*1210G>A)
c.670+1517G>A (n.670+1517G>A)
c.553G>A
c.*985G>A (n.*985G>A)
c.787+415G>A (n.787+415G>A)
c.799G>A
c.409+415G>A (n.409+415G>A)
c.412+415G>A (n.412+415G>A)
c.*1138G>A (n.*1138G>A)
c.5-30378G>A (n.5-30378G>A)
c.-43-19808G>A (n.-43-19808G>A)
c.-99+30942G>A (n.-99+30942G>A)
n.1338G>A
n.1379G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43094330C>ACA10599646BRCA1n.1265G>T
c.1201G>T (p.Gly401Trp)
c.1075G>T (p.Gly359Trp)
c.1198G>T (p.Gly400Trp)
c.1123G>T (p.Gly375Trp)
c.784+414G>T (n.784+414G>T)
c.646+414G>T (n.646+414G>T)
c.313G>T (p.Gly105Trp)
c.1078G>T (p.Gly360Trp)
c.1060G>T (p.Gly354Trp)
c.664+414G>T (n.664+414G>T)
c.706+414G>T (n.706+414G>T)
c.*1209G>T (n.*1209G>T)
c.670+1516G>T (n.670+1516G>T)
c.552G>T
c.*984G>T (n.*984G>T)
c.787+414G>T (n.787+414G>T)
c.798G>T
c.409+414G>T (n.409+414G>T)
c.412+414G>T (n.412+414G>T)
c.*1137G>T (n.*1137G>T)
c.5-30379G>T (n.5-30379G>T)
c.-43-19809G>T (n.-43-19809G>T)
c.-99+30941G>T (n.-99+30941G>T)
n.1337G>T
n.1378G>T
 dbSNP
17g.43094330C=CA2260784834BRCA1n.1265G=
c.1201G= (p.Gly401=)
c.1075G= (p.Gly359=)
c.1198G= (p.Gly400=)
c.1123G= (p.Gly375=)
c.784+414G= (n.784+414G=)
c.646+414G= (n.646+414G=)
c.313G= (p.Gly105=)
c.1078G= (p.Gly360=)
c.1060G= (p.Gly354=)
c.664+414G= (n.664+414G=)
c.706+414G= (n.706+414G=)
c.*1209G= (n.*1209G=)
c.670+1516G= (n.670+1516G=)
c.552G=
c.*984G= (n.*984G=)
c.787+414G= (n.787+414G=)
c.798G=
c.409+414G= (n.409+414G=)
c.412+414G= (n.412+414G=)
c.*1137G= (n.*1137G=)
c.5-30379G= (n.5-30379G=)
c.-43-19809G= (n.-43-19809G=)
c.-99+30941G= (n.-99+30941G=)
n.1337G=
n.1378G=
17g.43094330C>GCA10599647BRCA1n.1265G>C
c.1201G>C (p.Gly401Arg)
c.1075G>C (p.Gly359Arg)
c.1198G>C (p.Gly400Arg)
c.1123G>C (p.Gly375Arg)
c.784+414G>C (n.784+414G>C)
c.646+414G>C (n.646+414G>C)
c.313G>C (p.Gly105Arg)
c.1078G>C (p.Gly360Arg)
c.1060G>C (p.Gly354Arg)
c.664+414G>C (n.664+414G>C)
c.706+414G>C (n.706+414G>C)
c.*1209G>C (n.*1209G>C)
c.670+1516G>C (n.670+1516G>C)
c.552G>C
c.*984G>C (n.*984G>C)
c.787+414G>C (n.787+414G>C)
c.798G>C
c.409+414G>C (n.409+414G>C)
c.412+414G>C (n.412+414G>C)
c.*1137G>C (n.*1137G>C)
c.5-30379G>C (n.5-30379G>C)
c.-43-19809G>C (n.-43-19809G>C)
c.-99+30941G>C (n.-99+30941G>C)
n.1337G>C
n.1378G>C
 dbSNP
17g.43094330C>TCA10599648BRCA1n.1265G>A
c.1201G>A (p.Gly401Arg)
c.1075G>A (p.Gly359Arg)
c.1198G>A (p.Gly400Arg)
c.1123G>A (p.Gly375Arg)
c.784+414G>A (n.784+414G>A)
c.646+414G>A (n.646+414G>A)
c.313G>A (p.Gly105Arg)
c.1078G>A (p.Gly360Arg)
c.1060G>A (p.Gly354Arg)
c.664+414G>A (n.664+414G>A)
c.706+414G>A (n.706+414G>A)
c.*1209G>A (n.*1209G>A)
c.670+1516G>A (n.670+1516G>A)
c.552G>A
c.*984G>A (n.*984G>A)
c.787+414G>A (n.787+414G>A)
c.798G>A
c.409+414G>A (n.409+414G>A)
c.412+414G>A (n.412+414G>A)
c.*1137G>A (n.*1137G>A)
c.5-30379G>A (n.5-30379G>A)
c.-43-19809G>A (n.-43-19809G>A)
c.-99+30941G>A (n.-99+30941G>A)
n.1337G>A
n.1378G>A
 ClinVar dbSNP gnomAD v4
17g.43094331A>CCA10599649BRCA1n.1264T>G
c.1200T>G (p.Asp400Glu)
c.1074T>G (p.Asp358Glu)
c.1197T>G (p.Asp399Glu)
c.1122T>G (p.Asp374Glu)
c.784+413T>G (n.784+413T>G)
c.646+413T>G (n.646+413T>G)
c.312T>G (p.Asp104Glu)
c.1077T>G (p.Asp359Glu)
c.1059T>G (p.Asp353Glu)
c.664+413T>G (n.664+413T>G)
c.706+413T>G (n.706+413T>G)
c.*1208T>G (n.*1208T>G)
c.670+1515T>G (n.670+1515T>G)
c.551T>G
c.*983T>G (n.*983T>G)
c.787+413T>G (n.787+413T>G)
c.797T>G
c.409+413T>G (n.409+413T>G)
c.412+413T>G (n.412+413T>G)
c.*1136T>G (n.*1136T>G)
c.5-30380T>G (n.5-30380T>G)
c.-43-19810T>G (n.-43-19810T>G)
c.-99+30940T>G (n.-99+30940T>G)
n.1336T>G
n.1377T>G
 dbSNP
17g.43094331A>GCA500233582BRCA1n.1264T>C
c.1200T>C (p.Asp400=)
c.1074T>C (p.Asp358=)
c.1197T>C (p.Asp399=)
c.1122T>C (p.Asp374=)
c.784+413T>C (n.784+413T>C)
c.646+413T>C (n.646+413T>C)
c.312T>C (p.Asp104=)
c.1077T>C (p.Asp359=)
c.1059T>C (p.Asp353=)
c.664+413T>C (n.664+413T>C)
c.706+413T>C (n.706+413T>C)
c.*1208T>C (n.*1208T>C)
c.670+1515T>C (n.670+1515T>C)
c.551T>C
c.*983T>C (n.*983T>C)
c.787+413T>C (n.787+413T>C)
c.797T>C
c.409+413T>C (n.409+413T>C)
c.412+413T>C (n.412+413T>C)
c.*1136T>C (n.*1136T>C)
c.5-30380T>C (n.5-30380T>C)
c.-43-19810T>C (n.-43-19810T>C)
c.-99+30940T>C (n.-99+30940T>C)
n.1336T>C
n.1377T>C
 ClinVar dbSNP
17g.43094331A>TCA10599650BRCA1n.1264T>A
c.1200T>A (p.Asp400Glu)
c.1074T>A (p.Asp358Glu)
c.1197T>A (p.Asp399Glu)
c.1122T>A (p.Asp374Glu)
c.784+413T>A (n.784+413T>A)
c.646+413T>A (n.646+413T>A)
c.312T>A (p.Asp104Glu)
c.1077T>A (p.Asp359Glu)
c.1059T>A (p.Asp353Glu)
c.664+413T>A (n.664+413T>A)
c.706+413T>A (n.706+413T>A)
c.*1208T>A (n.*1208T>A)
c.670+1515T>A (n.670+1515T>A)
c.551T>A
c.*983T>A (n.*983T>A)
c.787+413T>A (n.787+413T>A)
c.797T>A
c.409+413T>A (n.409+413T>A)
c.412+413T>A (n.412+413T>A)
c.*1136T>A (n.*1136T>A)
c.5-30380T>A (n.5-30380T>A)
c.-43-19810T>A (n.-43-19810T>A)
c.-99+30940T>A (n.-99+30940T>A)
n.1336T>A
n.1377T>A
 dbSNP
17g.43094332T>ACA10599651BRCA1n.1263A>T
c.1199A>T (p.Asp400Val)
c.1073A>T (p.Asp358Val)
c.1196A>T (p.Asp399Val)
c.1121A>T (p.Asp374Val)
c.784+412A>T (n.784+412A>T)
c.646+412A>T (n.646+412A>T)
c.311A>T (p.Asp104Val)
c.1076A>T (p.Asp359Val)
c.1058A>T (p.Asp353Val)
c.664+412A>T (n.664+412A>T)
c.706+412A>T (n.706+412A>T)
c.*1207A>T (n.*1207A>T)
c.670+1514A>T (n.670+1514A>T)
c.550A>T
c.*982A>T (n.*982A>T)
c.787+412A>T (n.787+412A>T)
c.796A>T
c.409+412A>T (n.409+412A>T)
c.412+412A>T (n.412+412A>T)
c.*1135A>T (n.*1135A>T)
c.5-30381A>T (n.5-30381A>T)
c.-43-19811A>T (n.-43-19811A>T)
c.-99+30939A>T (n.-99+30939A>T)
n.1335A>T
n.1376A>T
 ClinVar dbSNP
17g.43094332T>CCA10599652BRCA1n.1263A>G
c.1199A>G (p.Asp400Gly)
c.1073A>G (p.Asp358Gly)
c.1196A>G (p.Asp399Gly)
c.1121A>G (p.Asp374Gly)
c.784+412A>G (n.784+412A>G)
c.646+412A>G (n.646+412A>G)
c.311A>G (p.Asp104Gly)
c.1076A>G (p.Asp359Gly)
c.1058A>G (p.Asp353Gly)
c.664+412A>G (n.664+412A>G)
c.706+412A>G (n.706+412A>G)
c.*1207A>G (n.*1207A>G)
c.670+1514A>G (n.670+1514A>G)
c.550A>G
c.*982A>G (n.*982A>G)
c.787+412A>G (n.787+412A>G)
c.796A>G
c.409+412A>G (n.409+412A>G)
c.412+412A>G (n.412+412A>G)
c.*1135A>G (n.*1135A>G)
c.5-30381A>G (n.5-30381A>G)
c.-43-19811A>G (n.-43-19811A>G)
c.-99+30939A>G (n.-99+30939A>G)
n.1335A>G
n.1376A>G
 ClinVar dbSNP gnomAD v4
17g.43094332T>GCA10599653BRCA1n.1263A>C
c.1199A>C (p.Asp400Ala)
c.1073A>C (p.Asp358Ala)
c.1196A>C (p.Asp399Ala)
c.1121A>C (p.Asp374Ala)
c.784+412A>C (n.784+412A>C)
c.646+412A>C (n.646+412A>C)
c.311A>C (p.Asp104Ala)
c.1076A>C (p.Asp359Ala)
c.1058A>C (p.Asp353Ala)
c.664+412A>C (n.664+412A>C)
c.706+412A>C (n.706+412A>C)
c.*1207A>C (n.*1207A>C)
c.670+1514A>C (n.670+1514A>C)
c.550A>C
c.*982A>C (n.*982A>C)
c.787+412A>C (n.787+412A>C)
c.796A>C
c.409+412A>C (n.409+412A>C)
c.412+412A>C (n.412+412A>C)
c.*1135A>C (n.*1135A>C)
c.5-30381A>C (n.5-30381A>C)
c.-43-19811A>C (n.-43-19811A>C)
c.-99+30939A>C (n.-99+30939A>C)
n.1335A>C
n.1376A>C
 dbSNP
17g.43094332T=CA2260784835BRCA1n.1263A=
c.1199A= (p.Asp400=)
c.1073A= (p.Asp358=)
c.1196A= (p.Asp399=)
c.1121A= (p.Asp374=)
c.784+412A= (n.784+412A=)
c.646+412A= (n.646+412A=)
c.311A= (p.Asp104=)
c.1076A= (p.Asp359=)
c.1058A= (p.Asp353=)
c.664+412A= (n.664+412A=)
c.706+412A= (n.706+412A=)
c.*1207A= (n.*1207A=)
c.670+1514A= (n.670+1514A=)
c.550A=
c.*982A= (n.*982A=)
c.787+412A= (n.787+412A=)
c.796A=
c.409+412A= (n.409+412A=)
c.412+412A= (n.412+412A=)
c.*1135A= (n.*1135A=)
c.5-30381A= (n.5-30381A=)
c.-43-19811A= (n.-43-19811A=)
c.-99+30939A= (n.-99+30939A=)
n.1335A=
n.1376A=

Number of alleles fetched