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.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.43094333C>ACA10599654BRCA1n.1262G>T
c.1198G>T (p.Asp400Tyr)
c.1072G>T (p.Asp358Tyr)
c.1195G>T (p.Asp399Tyr)
c.1120G>T (p.Asp374Tyr)
c.784+411G>T (n.784+411G>T)
c.646+411G>T (n.646+411G>T)
c.310G>T (p.Asp104Tyr)
c.1075G>T (p.Asp359Tyr)
c.1057G>T (p.Asp353Tyr)
c.664+411G>T (n.664+411G>T)
c.706+411G>T (n.706+411G>T)
c.*1206G>T (n.*1206G>T)
c.670+1513G>T (n.670+1513G>T)
c.549G>T
c.*981G>T (n.*981G>T)
c.787+411G>T (n.787+411G>T)
c.795G>T
c.409+411G>T (n.409+411G>T)
c.412+411G>T (n.412+411G>T)
c.*1134G>T (n.*1134G>T)
c.5-30382G>T (n.5-30382G>T)
c.-43-19812G>T (n.-43-19812G>T)
c.-99+30938G>T (n.-99+30938G>T)
n.1334G>T
n.1375G>T
 dbSNP
17g.43094333C=CA2260784836BRCA1n.1262G=
c.1198G= (p.Asp400=)
c.1072G= (p.Asp358=)
c.1195G= (p.Asp399=)
c.1120G= (p.Asp374=)
c.784+411G= (n.784+411G=)
c.646+411G= (n.646+411G=)
c.310G= (p.Asp104=)
c.1075G= (p.Asp359=)
c.1057G= (p.Asp353=)
c.664+411G= (n.664+411G=)
c.706+411G= (n.706+411G=)
c.*1206G= (n.*1206G=)
c.670+1513G= (n.670+1513G=)
c.549G=
c.*981G= (n.*981G=)
c.787+411G= (n.787+411G=)
c.795G=
c.409+411G= (n.409+411G=)
c.412+411G= (n.412+411G=)
c.*1134G= (n.*1134G=)
c.5-30382G= (n.5-30382G=)
c.-43-19812G= (n.-43-19812G=)
c.-99+30938G= (n.-99+30938G=)
n.1334G=
n.1375G=
17g.43094333C>GCA10599655BRCA1n.1262G>C
c.1198G>C (p.Asp400His)
c.1072G>C (p.Asp358His)
c.1195G>C (p.Asp399His)
c.1120G>C (p.Asp374His)
c.784+411G>C (n.784+411G>C)
c.646+411G>C (n.646+411G>C)
c.310G>C (p.Asp104His)
c.1075G>C (p.Asp359His)
c.1057G>C (p.Asp353His)
c.664+411G>C (n.664+411G>C)
c.706+411G>C (n.706+411G>C)
c.*1206G>C (n.*1206G>C)
c.670+1513G>C (n.670+1513G>C)
c.549G>C
c.*981G>C (n.*981G>C)
c.787+411G>C (n.787+411G>C)
c.795G>C
c.409+411G>C (n.409+411G>C)
c.412+411G>C (n.412+411G>C)
c.*1134G>C (n.*1134G>C)
c.5-30382G>C (n.5-30382G>C)
c.-43-19812G>C (n.-43-19812G>C)
c.-99+30938G>C (n.-99+30938G>C)
n.1334G>C
n.1375G>C
 dbSNP
17g.43094333C>TCA10599656BRCA1n.1262G>A
c.1198G>A (p.Asp400Asn)
c.1072G>A (p.Asp358Asn)
c.1195G>A (p.Asp399Asn)
c.1120G>A (p.Asp374Asn)
c.784+411G>A (n.784+411G>A)
c.646+411G>A (n.646+411G>A)
c.310G>A (p.Asp104Asn)
c.1075G>A (p.Asp359Asn)
c.1057G>A (p.Asp353Asn)
c.664+411G>A (n.664+411G>A)
c.706+411G>A (n.706+411G>A)
c.*1206G>A (n.*1206G>A)
c.670+1513G>A (n.670+1513G>A)
c.549G>A
c.*981G>A (n.*981G>A)
c.787+411G>A (n.787+411G>A)
c.795G>A
c.409+411G>A (n.409+411G>A)
c.412+411G>A (n.412+411G>A)
c.*1134G>A (n.*1134G>A)
c.5-30382G>A (n.5-30382G>A)
c.-43-19812G>A (n.-43-19812G>A)
c.-99+30938G>A (n.-99+30938G>A)
n.1334G>A
n.1375G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43094334A=CA2260784837BRCA1n.1261T=
c.1197T= (p.His399=)
c.1071T= (p.His357=)
c.1194T= (p.His398=)
c.1119T= (p.His373=)
c.784+410T= (n.784+410T=)
c.646+410T= (n.646+410T=)
c.309T= (p.His103=)
c.1074T= (p.His358=)
c.1056T= (p.His352=)
c.664+410T= (n.664+410T=)
c.706+410T= (n.706+410T=)
c.*1205T= (n.*1205T=)
c.670+1512T= (n.670+1512T=)
c.548T=
c.*980T= (n.*980T=)
c.787+410T= (n.787+410T=)
c.794T=
c.409+410T= (n.409+410T=)
c.412+410T= (n.412+410T=)
c.*1133T= (n.*1133T=)
c.5-30383T= (n.5-30383T=)
c.-43-19813T= (n.-43-19813T=)
c.-99+30937T= (n.-99+30937T=)
n.1333T=
n.1374T=
17g.43094334A>CCA10599657BRCA1n.1261T>G
c.1197T>G (p.His399Gln)
c.1071T>G (p.His357Gln)
c.1194T>G (p.His398Gln)
c.1119T>G (p.His373Gln)
c.784+410T>G (n.784+410T>G)
c.646+410T>G (n.646+410T>G)
c.309T>G (p.His103Gln)
c.1074T>G (p.His358Gln)
c.1056T>G (p.His352Gln)
c.664+410T>G (n.664+410T>G)
c.706+410T>G (n.706+410T>G)
c.*1205T>G (n.*1205T>G)
c.670+1512T>G (n.670+1512T>G)
c.548T>G
c.*980T>G (n.*980T>G)
c.787+410T>G (n.787+410T>G)
c.794T>G
c.409+410T>G (n.409+410T>G)
c.412+410T>G (n.412+410T>G)
c.*1133T>G (n.*1133T>G)
c.5-30383T>G (n.5-30383T>G)
c.-43-19813T>G (n.-43-19813T>G)
c.-99+30937T>G (n.-99+30937T>G)
n.1333T>G
n.1374T>G
 dbSNP
17g.43094334A>GCA500233587BRCA1n.1261T>C
c.1197T>C (p.His399=)
c.1071T>C (p.His357=)
c.1194T>C (p.His398=)
c.1119T>C (p.His373=)
c.784+410T>C (n.784+410T>C)
c.646+410T>C (n.646+410T>C)
c.309T>C (p.His103=)
c.1074T>C (p.His358=)
c.1056T>C (p.His352=)
c.664+410T>C (n.664+410T>C)
c.706+410T>C (n.706+410T>C)
c.*1205T>C (n.*1205T>C)
c.670+1512T>C (n.670+1512T>C)
c.548T>C
c.*980T>C (n.*980T>C)
c.787+410T>C (n.787+410T>C)
c.794T>C
c.409+410T>C (n.409+410T>C)
c.412+410T>C (n.412+410T>C)
c.*1133T>C (n.*1133T>C)
c.5-30383T>C (n.5-30383T>C)
c.-43-19813T>C (n.-43-19813T>C)
c.-99+30937T>C (n.-99+30937T>C)
n.1333T>C
n.1374T>C
 ClinVar dbSNP
17g.43094334A>TCA10599658BRCA1n.1261T>A
c.1197T>A (p.His399Gln)
c.1071T>A (p.His357Gln)
c.1194T>A (p.His398Gln)
c.1119T>A (p.His373Gln)
c.784+410T>A (n.784+410T>A)
c.646+410T>A (n.646+410T>A)
c.309T>A (p.His103Gln)
c.1074T>A (p.His358Gln)
c.1056T>A (p.His352Gln)
c.664+410T>A (n.664+410T>A)
c.706+410T>A (n.706+410T>A)
c.*1205T>A (n.*1205T>A)
c.670+1512T>A (n.670+1512T>A)
c.548T>A
c.*980T>A (n.*980T>A)
c.787+410T>A (n.787+410T>A)
c.794T>A
c.409+410T>A (n.409+410T>A)
c.412+410T>A (n.412+410T>A)
c.*1133T>A (n.*1133T>A)
c.5-30383T>A (n.5-30383T>A)
c.-43-19813T>A (n.-43-19813T>A)
c.-99+30937T>A (n.-99+30937T>A)
n.1333T>A
n.1374T>A
 dbSNP
17g.43094335T>ACA10599659BRCA1n.1260A>T
c.1196A>T (p.His399Leu)
c.1070A>T (p.His357Leu)
c.1193A>T (p.His398Leu)
c.1118A>T (p.His373Leu)
c.784+409A>T (n.784+409A>T)
c.646+409A>T (n.646+409A>T)
c.308A>T (p.His103Leu)
c.1073A>T (p.His358Leu)
c.1055A>T (p.His352Leu)
c.664+409A>T (n.664+409A>T)
c.706+409A>T (n.706+409A>T)
c.*1204A>T (n.*1204A>T)
c.670+1511A>T (n.670+1511A>T)
c.547A>T
c.*979A>T (n.*979A>T)
c.787+409A>T (n.787+409A>T)
c.793A>T
c.409+409A>T (n.409+409A>T)
c.412+409A>T (n.412+409A>T)
c.*1132A>T (n.*1132A>T)
c.5-30384A>T (n.5-30384A>T)
c.-43-19814A>T (n.-43-19814A>T)
c.-99+30936A>T (n.-99+30936A>T)
n.1332A>T
n.1373A>T
 dbSNP
17g.43094335T>CCA000787BRCA1n.1260A>G
c.1196A>G (p.His399Arg)
c.1070A>G (p.His357Arg)
c.1193A>G (p.His398Arg)
c.1118A>G (p.His373Arg)
c.784+409A>G (n.784+409A>G)
c.646+409A>G (n.646+409A>G)
c.308A>G (p.His103Arg)
c.1073A>G (p.His358Arg)
c.1055A>G (p.His352Arg)
c.664+409A>G (n.664+409A>G)
c.706+409A>G (n.706+409A>G)
c.*1204A>G (n.*1204A>G)
c.670+1511A>G (n.670+1511A>G)
c.547A>G
c.*979A>G (n.*979A>G)
c.787+409A>G (n.787+409A>G)
c.793A>G
c.409+409A>G (n.409+409A>G)
c.412+409A>G (n.412+409A>G)
c.*1132A>G (n.*1132A>G)
c.5-30384A>G (n.5-30384A>G)
c.-43-19814A>G (n.-43-19814A>G)
c.-99+30936A>G (n.-99+30936A>G)
n.1332A>G
n.1373A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43094335T>GCA10599660BRCA1n.1260A>C
c.1196A>C (p.His399Pro)
c.1070A>C (p.His357Pro)
c.1193A>C (p.His398Pro)
c.1118A>C (p.His373Pro)
c.784+409A>C (n.784+409A>C)
c.646+409A>C (n.646+409A>C)
c.308A>C (p.His103Pro)
c.1073A>C (p.His358Pro)
c.1055A>C (p.His352Pro)
c.664+409A>C (n.664+409A>C)
c.706+409A>C (n.706+409A>C)
c.*1204A>C (n.*1204A>C)
c.670+1511A>C (n.670+1511A>C)
c.547A>C
c.*979A>C (n.*979A>C)
c.787+409A>C (n.787+409A>C)
c.793A>C
c.409+409A>C (n.409+409A>C)
c.412+409A>C (n.412+409A>C)
c.*1132A>C (n.*1132A>C)
c.5-30384A>C (n.5-30384A>C)
c.-43-19814A>C (n.-43-19814A>C)
c.-99+30936A>C (n.-99+30936A>C)
n.1332A>C
n.1373A>C
17g.43094335T=CA2260784838BRCA1n.1260A=
c.1196A= (p.His399=)
c.1070A= (p.His357=)
c.1193A= (p.His398=)
c.1118A= (p.His373=)
c.784+409A= (n.784+409A=)
c.646+409A= (n.646+409A=)
c.308A= (p.His103=)
c.1073A= (p.His358=)
c.1055A= (p.His352=)
c.664+409A= (n.664+409A=)
c.706+409A= (n.706+409A=)
c.*1204A= (n.*1204A=)
c.670+1511A= (n.670+1511A=)
c.547A=
c.*979A= (n.*979A=)
c.787+409A= (n.787+409A=)
c.793A=
c.409+409A= (n.409+409A=)
c.412+409A= (n.412+409A=)
c.*1132A= (n.*1132A=)
c.5-30384A= (n.5-30384A=)
c.-43-19814A= (n.-43-19814A=)
c.-99+30936A= (n.-99+30936A=)
n.1332A=
n.1373A=
17g.43094337_43094338delCA2573105992BRCA1n.1259_1260del
c.1195_1196del (p.His399Ter)
c.1069_1070del (p.His357Ter)
c.1192_1193del (p.His398Ter)
c.1117_1118del (p.His373Ter)
c.784+408_784+409del (n.784+408_784+409del)
c.646+408_646+409del (n.646+408_646+409del)
c.307_308del (p.His103Ter)
c.1072_1073del (p.His358Ter)
c.1054_1055del (p.His352Ter)
c.664+408_664+409del (n.664+408_664+409del)
c.706+408_706+409del (n.706+408_706+409del)
c.*1203_*1204del (n.*1203_*1204del)
c.670+1510_670+1511del (n.670+1510_670+1511del)
c.546_547del
c.*978_*979del (n.*978_*979del)
c.787+408_787+409del (n.787+408_787+409del)
c.792_793del
c.409+408_409+409del (n.409+408_409+409del)
c.412+408_412+409del (n.412+408_412+409del)
c.*1131_*1132del (n.*1131_*1132del)
c.5-30385_5-30384del (n.5-30385_5-30384del)
c.-43-19815_-43-19814del (n.-43-19815_-43-19814del)
c.-99+30935_-99+30936del (n.-99+30935_-99+30936del)
n.1331_1332del
n.1372_1373del
 ClinVar dbSNP
17g.43094336_43094352dupCA3050533249BRCA1n.1244_1260dup
c.1180_1196dup (p.His399GlnfsTer17)
c.1054_1070dup (p.His357GlnfsTer17)
c.1177_1193dup (p.His398GlnfsTer17)
c.1102_1118dup (p.His373GlnfsTer17)
c.784+393_784+409dup (n.784+393_784+409dup)
c.646+393_646+409dup (n.646+393_646+409dup)
c.292_308dup (p.His103GlnfsTer17)
c.1057_1073dup (p.His358GlnfsTer17)
c.1039_1055dup (p.His352GlnfsTer17)
c.664+393_664+409dup (n.664+393_664+409dup)
c.706+393_706+409dup (n.706+393_706+409dup)
c.*1188_*1204dup (n.*1188_*1204dup)
c.670+1495_670+1511dup (n.670+1495_670+1511dup)
c.531_547dup
c.*963_*979dup (n.*963_*979dup)
c.787+393_787+409dup (n.787+393_787+409dup)
c.777_793dup
c.409+393_409+409dup (n.409+393_409+409dup)
c.412+393_412+409dup (n.412+393_412+409dup)
c.*1116_*1132dup (n.*1116_*1132dup)
c.5-30400_5-30384dup (n.5-30400_5-30384dup)
c.-43-19830_-43-19814dup (n.-43-19830_-43-19814dup)
c.-99+30920_-99+30936dup (n.-99+30920_-99+30936dup)
n.1316_1332dup
n.1357_1373dup
17g.43094336G>ACA10599661BRCA1n.1259C>T
c.1195C>T (p.His399Tyr)
c.1069C>T (p.His357Tyr)
c.1192C>T (p.His398Tyr)
c.1117C>T (p.His373Tyr)
c.784+408C>T (n.784+408C>T)
c.646+408C>T (n.646+408C>T)
c.307C>T (p.His103Tyr)
c.1072C>T (p.His358Tyr)
c.1054C>T (p.His352Tyr)
c.664+408C>T (n.664+408C>T)
c.706+408C>T (n.706+408C>T)
c.*1203C>T (n.*1203C>T)
c.670+1510C>T (n.670+1510C>T)
c.546C>T
c.*978C>T (n.*978C>T)
c.787+408C>T (n.787+408C>T)
c.792C>T
c.409+408C>T (n.409+408C>T)
c.412+408C>T (n.412+408C>T)
c.*1131C>T (n.*1131C>T)
c.5-30385C>T (n.5-30385C>T)
c.-43-19815C>T (n.-43-19815C>T)
c.-99+30935C>T (n.-99+30935C>T)
n.1331C>T
n.1372C>T
 ClinVar dbSNP
17g.43094336G>CCA10599662BRCA1n.1259C>G
c.1195C>G (p.His399Asp)
c.1069C>G (p.His357Asp)
c.1192C>G (p.His398Asp)
c.1117C>G (p.His373Asp)
c.784+408C>G (n.784+408C>G)
c.646+408C>G (n.646+408C>G)
c.307C>G (p.His103Asp)
c.1072C>G (p.His358Asp)
c.1054C>G (p.His352Asp)
c.664+408C>G (n.664+408C>G)
c.706+408C>G (n.706+408C>G)
c.*1203C>G (n.*1203C>G)
c.670+1510C>G (n.670+1510C>G)
c.546C>G
c.*978C>G (n.*978C>G)
c.787+408C>G (n.787+408C>G)
c.792C>G
c.409+408C>G (n.409+408C>G)
c.412+408C>G (n.412+408C>G)
c.*1131C>G (n.*1131C>G)
c.5-30385C>G (n.5-30385C>G)
c.-43-19815C>G (n.-43-19815C>G)
c.-99+30935C>G (n.-99+30935C>G)
n.1331C>G
n.1372C>G
 dbSNP
17g.43094336G=CA2260784839BRCA1n.1259C=
c.1195C= (p.His399=)
c.1069C= (p.His357=)
c.1192C= (p.His398=)
c.1117C= (p.His373=)
c.784+408C= (n.784+408C=)
c.646+408C= (n.646+408C=)
c.307C= (p.His103=)
c.1072C= (p.His358=)
c.1054C= (p.His352=)
c.664+408C= (n.664+408C=)
c.706+408C= (n.706+408C=)
c.*1203C= (n.*1203C=)
c.670+1510C= (n.670+1510C=)
c.546C=
c.*978C= (n.*978C=)
c.787+408C= (n.787+408C=)
c.792C=
c.409+408C= (n.409+408C=)
c.412+408C= (n.412+408C=)
c.*1131C= (n.*1131C=)
c.5-30385C= (n.5-30385C=)
c.-43-19815C= (n.-43-19815C=)
c.-99+30935C= (n.-99+30935C=)
n.1331C=
n.1372C=
17g.43094336G>TCA10599663BRCA1n.1259C>A
c.1195C>A (p.His399Asn)
c.1069C>A (p.His357Asn)
c.1192C>A (p.His398Asn)
c.1117C>A (p.His373Asn)
c.784+408C>A (n.784+408C>A)
c.646+408C>A (n.646+408C>A)
c.307C>A (p.His103Asn)
c.1072C>A (p.His358Asn)
c.1054C>A (p.His352Asn)
c.664+408C>A (n.664+408C>A)
c.706+408C>A (n.706+408C>A)
c.*1203C>A (n.*1203C>A)
c.670+1510C>A (n.670+1510C>A)
c.546C>A
c.*978C>A (n.*978C>A)
c.787+408C>A (n.787+408C>A)
c.792C>A
c.409+408C>A (n.409+408C>A)
c.412+408C>A (n.412+408C>A)
c.*1131C>A (n.*1131C>A)
c.5-30385C>A (n.5-30385C>A)
c.-43-19815C>A (n.-43-19815C>A)
c.-99+30935C>A (n.-99+30935C>A)
n.1331C>A
n.1372C>A
17g.43094337T>ACA500233593BRCA1n.1258A>T
c.1194A>T (p.Ser398=)
c.1068A>T (p.Ser356=)
c.1191A>T (p.Ser397=)
c.1116A>T (p.Ser372=)
c.784+407A>T (n.784+407A>T)
c.646+407A>T (n.646+407A>T)
c.306A>T (p.Ser102=)
c.1071A>T (p.Ser357=)
c.1053A>T (p.Ser351=)
c.664+407A>T (n.664+407A>T)
c.706+407A>T (n.706+407A>T)
c.*1202A>T (n.*1202A>T)
c.670+1509A>T (n.670+1509A>T)
c.545A>T
c.*977A>T (n.*977A>T)
c.787+407A>T (n.787+407A>T)
c.791A>T
c.409+407A>T (n.409+407A>T)
c.412+407A>T (n.412+407A>T)
c.*1130A>T (n.*1130A>T)
c.5-30386A>T (n.5-30386A>T)
c.-43-19816A>T (n.-43-19816A>T)
c.-99+30934A>T (n.-99+30934A>T)
n.1330A>T
n.1371A>T
 dbSNP
17g.43094337T>CCA500233590BRCA1n.1258A>G
c.1194A>G (p.Ser398=)
c.1068A>G (p.Ser356=)
c.1191A>G (p.Ser397=)
c.1116A>G (p.Ser372=)
c.784+407A>G (n.784+407A>G)
c.646+407A>G (n.646+407A>G)
c.306A>G (p.Ser102=)
c.1071A>G (p.Ser357=)
c.1053A>G (p.Ser351=)
c.664+407A>G (n.664+407A>G)
c.706+407A>G (n.706+407A>G)
c.*1202A>G (n.*1202A>G)
c.670+1509A>G (n.670+1509A>G)
c.545A>G
c.*977A>G (n.*977A>G)
c.787+407A>G (n.787+407A>G)
c.791A>G
c.409+407A>G (n.409+407A>G)
c.412+407A>G (n.412+407A>G)
c.*1130A>G (n.*1130A>G)
c.5-30386A>G (n.5-30386A>G)
c.-43-19816A>G (n.-43-19816A>G)
c.-99+30934A>G (n.-99+30934A>G)
n.1330A>G
n.1371A>G
 dbSNP
17g.43094337T>GCA500233592BRCA1n.1258A>C
c.1194A>C (p.Ser398=)
c.1068A>C (p.Ser356=)
c.1191A>C (p.Ser397=)
c.1116A>C (p.Ser372=)
c.784+407A>C (n.784+407A>C)
c.646+407A>C (n.646+407A>C)
c.306A>C (p.Ser102=)
c.1071A>C (p.Ser357=)
c.1053A>C (p.Ser351=)
c.664+407A>C (n.664+407A>C)
c.706+407A>C (n.706+407A>C)
c.*1202A>C (n.*1202A>C)
c.670+1509A>C (n.670+1509A>C)
c.545A>C
c.*977A>C (n.*977A>C)
c.787+407A>C (n.787+407A>C)
c.791A>C
c.409+407A>C (n.409+407A>C)
c.412+407A>C (n.412+407A>C)
c.*1130A>C (n.*1130A>C)
c.5-30386A>C (n.5-30386A>C)
c.-43-19816A>C (n.-43-19816A>C)
c.-99+30934A>C (n.-99+30934A>C)
n.1330A>C
n.1371A>C
 dbSNP
17g.43094337dupCA658824535BRCA1n.1258dup
c.1194dup (p.His399ThrfsTer2)
c.1068dup (p.His357ThrfsTer2)
c.1191dup (p.His398ThrfsTer2)
c.1116dup (p.His373ThrfsTer2)
c.784+407dup (n.784+407dup)
c.646+407dup (n.646+407dup)
c.306dup (p.His103ThrfsTer2)
c.1071dup (p.His358ThrfsTer2)
c.1053dup (p.His352ThrfsTer2)
c.664+407dup (n.664+407dup)
c.706+407dup (n.706+407dup)
c.*1202dup (n.*1202dup)
c.670+1509dup (n.670+1509dup)
c.545dup
c.*977dup (n.*977dup)
c.787+407dup (n.787+407dup)
c.791dup
c.409+407dup (n.409+407dup)
c.412+407dup (n.412+407dup)
c.*1130dup (n.*1130dup)
c.5-30386dup (n.5-30386dup)
c.-43-19816dup (n.-43-19816dup)
c.-99+30934dup (n.-99+30934dup)
n.1330dup
n.1371dup
 ClinVar dbSNP
17g.43094337_43094356delCA3050533250BRCA1n.1239_1258del
c.1175_1194del (p.Leu392ProfsTer2)
c.1049_1068del (p.Leu350ProfsTer2)
c.1172_1191del (p.Leu391ProfsTer2)
c.1097_1116del (p.Leu366ProfsTer2)
c.784+388_784+407del (n.784+388_784+407del)
c.646+388_646+407del (n.646+388_646+407del)
c.287_306del (p.Leu96ProfsTer2)
c.1052_1071del (p.Leu351ProfsTer2)
c.1034_1053del (p.Leu345ProfsTer2)
c.664+388_664+407del (n.664+388_664+407del)
c.706+388_706+407del (n.706+388_706+407del)
c.*1183_*1202del (n.*1183_*1202del)
c.670+1490_670+1509del (n.670+1490_670+1509del)
c.526_545del
c.*958_*977del (n.*958_*977del)
c.787+388_787+407del (n.787+388_787+407del)
c.772_791del
c.409+388_409+407del (n.409+388_409+407del)
c.412+388_412+407del (n.412+388_412+407del)
c.*1111_*1130del (n.*1111_*1130del)
c.5-30405_5-30386del (n.5-30405_5-30386del)
c.-43-19835_-43-19816del (n.-43-19835_-43-19816del)
c.-99+30915_-99+30934del (n.-99+30915_-99+30934del)
n.1311_1330del
n.1352_1371del
17g.43094338delCA2733925658BRCA1n.1257del
c.1193del (p.Ser398TyrfsTer12)
c.1067del (p.Ser356TyrfsTer12)
c.1190del (p.Ser397TyrfsTer12)
c.1115del (p.Ser372TyrfsTer12)
c.784+406del (n.784+406del)
c.646+406del (n.646+406del)
c.305del (p.Ser102TyrfsTer12)
c.1070del (p.Ser357TyrfsTer12)
c.1052del (p.Ser351TyrfsTer12)
c.664+406del (n.664+406del)
c.706+406del (n.706+406del)
c.*1201del (n.*1201del)
c.670+1508del (n.670+1508del)
c.544del
c.*976del (n.*976del)
c.787+406del (n.787+406del)
c.790del
c.409+406del (n.409+406del)
c.412+406del (n.412+406del)
c.*1129del (n.*1129del)
c.5-30387del (n.5-30387del)
c.-43-19817del (n.-43-19817del)
c.-99+30933del (n.-99+30933del)
n.1329del
n.1370del
 dbSNP
17g.43094338G>ACA057085BRCA1n.1257C>T
c.1193C>T (p.Ser398Leu)
c.1067C>T (p.Ser356Leu)
c.1190C>T (p.Ser397Leu)
c.1115C>T (p.Ser372Leu)
c.784+406C>T (n.784+406C>T)
c.646+406C>T (n.646+406C>T)
c.305C>T (p.Ser102Leu)
c.1070C>T (p.Ser357Leu)
c.1052C>T (p.Ser351Leu)
c.664+406C>T (n.664+406C>T)
c.706+406C>T (n.706+406C>T)
c.*1201C>T (n.*1201C>T)
c.670+1508C>T (n.670+1508C>T)
c.544C>T
c.*976C>T (n.*976C>T)
c.787+406C>T (n.787+406C>T)
c.790C>T
c.409+406C>T (n.409+406C>T)
c.412+406C>T (n.412+406C>T)
c.*1129C>T (n.*1129C>T)
c.5-30387C>T (n.5-30387C>T)
c.-43-19817C>T (n.-43-19817C>T)
c.-99+30933C>T (n.-99+30933C>T)
n.1329C>T
n.1370C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43094338G>CCA000786BRCA1n.1257C>G
c.1193C>G (p.Ser398Ter)
c.1067C>G (p.Ser356Ter)
c.1190C>G (p.Ser397Ter)
c.1115C>G (p.Ser372Ter)
c.784+406C>G (n.784+406C>G)
c.646+406C>G (n.646+406C>G)
c.305C>G (p.Ser102Ter)
c.1070C>G (p.Ser357Ter)
c.1052C>G (p.Ser351Ter)
c.664+406C>G (n.664+406C>G)
c.706+406C>G (n.706+406C>G)
c.*1201C>G (n.*1201C>G)
c.670+1508C>G (n.670+1508C>G)
c.544C>G
c.*976C>G (n.*976C>G)
c.787+406C>G (n.787+406C>G)
c.790C>G
c.409+406C>G (n.409+406C>G)
c.412+406C>G (n.412+406C>G)
c.*1129C>G (n.*1129C>G)
c.5-30387C>G (n.5-30387C>G)
c.-43-19817C>G (n.-43-19817C>G)
c.-99+30933C>G (n.-99+30933C>G)
n.1329C>G
n.1370C>G
 ClinVar dbSNP
17g.43094338G=CA2260784840BRCA1n.1257C=
c.1193C= (p.Ser398=)
c.1067C= (p.Ser356=)
c.1190C= (p.Ser397=)
c.1115C= (p.Ser372=)
c.784+406C= (n.784+406C=)
c.646+406C= (n.646+406C=)
c.305C= (p.Ser102=)
c.1070C= (p.Ser357=)
c.1052C= (p.Ser351=)
c.664+406C= (n.664+406C=)
c.706+406C= (n.706+406C=)
c.*1201C= (n.*1201C=)
c.670+1508C= (n.670+1508C=)
c.544C=
c.*976C= (n.*976C=)
c.787+406C= (n.787+406C=)
c.790C=
c.409+406C= (n.409+406C=)
c.412+406C= (n.412+406C=)
c.*1129C= (n.*1129C=)
c.5-30387C= (n.5-30387C=)
c.-43-19817C= (n.-43-19817C=)
c.-99+30933C= (n.-99+30933C=)
n.1329C=
n.1370C=
17g.43094338G>TCA000785BRCA1n.1257C>A
c.1193C>A (p.Ser398Ter)
c.1067C>A (p.Ser356Ter)
c.1190C>A (p.Ser397Ter)
c.1115C>A (p.Ser372Ter)
c.784+406C>A (n.784+406C>A)
c.646+406C>A (n.646+406C>A)
c.305C>A (p.Ser102Ter)
c.1070C>A (p.Ser357Ter)
c.1052C>A (p.Ser351Ter)
c.664+406C>A (n.664+406C>A)
c.706+406C>A (n.706+406C>A)
c.*1201C>A (n.*1201C>A)
c.670+1508C>A (n.670+1508C>A)
c.544C>A
c.*976C>A (n.*976C>A)
c.787+406C>A (n.787+406C>A)
c.790C>A
c.409+406C>A (n.409+406C>A)
c.412+406C>A (n.412+406C>A)
c.*1129C>A (n.*1129C>A)
c.5-30387C>A (n.5-30387C>A)
c.-43-19817C>A (n.-43-19817C>A)
c.-99+30933C>A (n.-99+30933C>A)
n.1329C>A
n.1370C>A
 ClinVar dbSNP
17g.43094339A=CA2260784841BRCA1n.1256T=
c.1192T= (p.Ser398=)
c.1066T= (p.Ser356=)
c.1189T= (p.Ser397=)
c.1114T= (p.Ser372=)
c.784+405T= (n.784+405T=)
c.646+405T= (n.646+405T=)
c.304T= (p.Ser102=)
c.1069T= (p.Ser357=)
c.1051T= (p.Ser351=)
c.664+405T= (n.664+405T=)
c.706+405T= (n.706+405T=)
c.*1200T= (n.*1200T=)
c.670+1507T= (n.670+1507T=)
c.543T=
c.*975T= (n.*975T=)
c.787+405T= (n.787+405T=)
c.789T=
c.409+405T= (n.409+405T=)
c.412+405T= (n.412+405T=)
c.*1128T= (n.*1128T=)
c.5-30388T= (n.5-30388T=)
c.-43-19818T= (n.-43-19818T=)
c.-99+30932T= (n.-99+30932T=)
n.1328T=
n.1369T=
17g.43094339A>CCA10599664BRCA1n.1256T>G
c.1192T>G (p.Ser398Ala)
c.1066T>G (p.Ser356Ala)
c.1189T>G (p.Ser397Ala)
c.1114T>G (p.Ser372Ala)
c.784+405T>G (n.784+405T>G)
c.646+405T>G (n.646+405T>G)
c.304T>G (p.Ser102Ala)
c.1069T>G (p.Ser357Ala)
c.1051T>G (p.Ser351Ala)
c.664+405T>G (n.664+405T>G)
c.706+405T>G (n.706+405T>G)
c.*1200T>G (n.*1200T>G)
c.670+1507T>G (n.670+1507T>G)
c.543T>G
c.*975T>G (n.*975T>G)
c.787+405T>G (n.787+405T>G)
c.789T>G
c.409+405T>G (n.409+405T>G)
c.412+405T>G (n.412+405T>G)
c.*1128T>G (n.*1128T>G)
c.5-30388T>G (n.5-30388T>G)
c.-43-19818T>G (n.-43-19818T>G)
c.-99+30932T>G (n.-99+30932T>G)
n.1328T>G
n.1369T>G
 ClinVar dbSNP
17g.43094339A>GCA10599665BRCA1n.1256T>C
c.1192T>C (p.Ser398Pro)
c.1066T>C (p.Ser356Pro)
c.1189T>C (p.Ser397Pro)
c.1114T>C (p.Ser372Pro)
c.784+405T>C (n.784+405T>C)
c.646+405T>C (n.646+405T>C)
c.304T>C (p.Ser102Pro)
c.1069T>C (p.Ser357Pro)
c.1051T>C (p.Ser351Pro)
c.664+405T>C (n.664+405T>C)
c.706+405T>C (n.706+405T>C)
c.*1200T>C (n.*1200T>C)
c.670+1507T>C (n.670+1507T>C)
c.543T>C
c.*975T>C (n.*975T>C)
c.787+405T>C (n.787+405T>C)
c.789T>C
c.409+405T>C (n.409+405T>C)
c.412+405T>C (n.412+405T>C)
c.*1128T>C (n.*1128T>C)
c.5-30388T>C (n.5-30388T>C)
c.-43-19818T>C (n.-43-19818T>C)
c.-99+30932T>C (n.-99+30932T>C)
n.1328T>C
n.1369T>C
 dbSNP
17g.43094339A>TCA10599666BRCA1n.1256T>A
c.1192T>A (p.Ser398Thr)
c.1066T>A (p.Ser356Thr)
c.1189T>A (p.Ser397Thr)
c.1114T>A (p.Ser372Thr)
c.784+405T>A (n.784+405T>A)
c.646+405T>A (n.646+405T>A)
c.304T>A (p.Ser102Thr)
c.1069T>A (p.Ser357Thr)
c.1051T>A (p.Ser351Thr)
c.664+405T>A (n.664+405T>A)
c.706+405T>A (n.706+405T>A)
c.*1200T>A (n.*1200T>A)
c.670+1507T>A (n.670+1507T>A)
c.543T>A
c.*975T>A (n.*975T>A)
c.787+405T>A (n.787+405T>A)
c.789T>A
c.409+405T>A (n.409+405T>A)
c.412+405T>A (n.412+405T>A)
c.*1128T>A (n.*1128T>A)
c.5-30388T>A (n.5-30388T>A)
c.-43-19818T>A (n.-43-19818T>A)
c.-99+30932T>A (n.-99+30932T>A)
n.1328T>A
n.1369T>A
 dbSNP
17g.43094340G>ACA500233598BRCA1n.1255C>T
c.1191C>T (p.Asp397=)
c.1065C>T (p.Asp355=)
c.1188C>T (p.Asp396=)
c.1113C>T (p.Asp371=)
c.784+404C>T (n.784+404C>T)
c.646+404C>T (n.646+404C>T)
c.303C>T (p.Asp101=)
c.1068C>T (p.Asp356=)
c.1050C>T (p.Asp350=)
c.664+404C>T (n.664+404C>T)
c.706+404C>T (n.706+404C>T)
c.*1199C>T (n.*1199C>T)
c.670+1506C>T (n.670+1506C>T)
c.542C>T
c.*974C>T (n.*974C>T)
c.787+404C>T (n.787+404C>T)
c.788C>T
c.409+404C>T (n.409+404C>T)
c.412+404C>T (n.412+404C>T)
c.*1127C>T (n.*1127C>T)
c.5-30389C>T (n.5-30389C>T)
c.-43-19819C>T (n.-43-19819C>T)
c.-99+30931C>T (n.-99+30931C>T)
n.1327C>T
n.1368C>T
 ClinVar dbSNP gnomAD v4
17g.43094340G>CCA10599667BRCA1n.1255C>G
c.1191C>G (p.Asp397Glu)
c.1065C>G (p.Asp355Glu)
c.1188C>G (p.Asp396Glu)
c.1113C>G (p.Asp371Glu)
c.784+404C>G (n.784+404C>G)
c.646+404C>G (n.646+404C>G)
c.303C>G (p.Asp101Glu)
c.1068C>G (p.Asp356Glu)
c.1050C>G (p.Asp350Glu)
c.664+404C>G (n.664+404C>G)
c.706+404C>G (n.706+404C>G)
c.*1199C>G (n.*1199C>G)
c.670+1506C>G (n.670+1506C>G)
c.542C>G
c.*974C>G (n.*974C>G)
c.787+404C>G (n.787+404C>G)
c.788C>G
c.409+404C>G (n.409+404C>G)
c.412+404C>G (n.412+404C>G)
c.*1127C>G (n.*1127C>G)
c.5-30389C>G (n.5-30389C>G)
c.-43-19819C>G (n.-43-19819C>G)
c.-99+30931C>G (n.-99+30931C>G)
n.1327C>G
n.1368C>G
 dbSNP
17g.43094340G>TCA10599668BRCA1n.1255C>A
c.1191C>A (p.Asp397Glu)
c.1065C>A (p.Asp355Glu)
c.1188C>A (p.Asp396Glu)
c.1113C>A (p.Asp371Glu)
c.784+404C>A (n.784+404C>A)
c.646+404C>A (n.646+404C>A)
c.303C>A (p.Asp101Glu)
c.1068C>A (p.Asp356Glu)
c.1050C>A (p.Asp350Glu)
c.664+404C>A (n.664+404C>A)
c.706+404C>A (n.706+404C>A)
c.*1199C>A (n.*1199C>A)
c.670+1506C>A (n.670+1506C>A)
c.542C>A
c.*974C>A (n.*974C>A)
c.787+404C>A (n.787+404C>A)
c.788C>A
c.409+404C>A (n.409+404C>A)
c.412+404C>A (n.412+404C>A)
c.*1127C>A (n.*1127C>A)
c.5-30389C>A (n.5-30389C>A)
c.-43-19819C>A (n.-43-19819C>A)
c.-99+30931C>A (n.-99+30931C>A)
n.1327C>A
n.1368C>A
 dbSNP
17g.43094340_43094341delinsGTCA2260784842BRCA1n.1254_1255delinsAC
c.1190_1191delinsAC (p.Asp397=)
c.1064_1065delinsAC (p.Asp355=)
c.1187_1188delinsAC (p.Asp396=)
c.1112_1113delinsAC (p.Asp371=)
c.784+403_784+404delinsAC (n.784+403_784+404delinsAC)
c.646+403_646+404delinsAC (n.646+403_646+404delinsAC)
c.302_303delinsAC (p.Asp101=)
c.1067_1068delinsAC (p.Asp356=)
c.1049_1050delinsAC (p.Asp350=)
c.664+403_664+404delinsAC (n.664+403_664+404delinsAC)
c.706+403_706+404delinsAC (n.706+403_706+404delinsAC)
c.*1198_*1199delinsAC (n.*1198_*1199delinsAC)
c.670+1505_670+1506delinsAC (n.670+1505_670+1506delinsAC)
c.541_542delinsAC
c.*973_*974delinsAC (n.*973_*974delinsAC)
c.787+403_787+404delinsAC (n.787+403_787+404delinsAC)
c.787_788delinsAC
c.409+403_409+404delinsAC (n.409+403_409+404delinsAC)
c.412+403_412+404delinsAC (n.412+403_412+404delinsAC)
c.*1126_*1127delinsAC (n.*1126_*1127delinsAC)
c.5-30390_5-30389delinsAC (n.5-30390_5-30389delinsAC)
c.-43-19820_-43-19819delinsAC (n.-43-19820_-43-19819delinsAC)
c.-99+30930_-99+30931delinsAC (n.-99+30930_-99+30931delinsAC)
n.1326_1327delinsAC
n.1367_1368delinsAC
17g.43094341delCA057081BRCA1n.1254del
c.1190del (p.Asp397AlafsTer13)
c.1064del (p.Asp355AlafsTer13)
c.1187del (p.Asp396AlafsTer13)
c.1112del (p.Asp371AlafsTer13)
c.784+403del (n.784+403del)
c.646+403del (n.646+403del)
c.302del (p.Asp101AlafsTer13)
c.1067del (p.Asp356AlafsTer13)
c.1049del (p.Asp350AlafsTer13)
c.664+403del (n.664+403del)
c.706+403del (n.706+403del)
c.*1198del (n.*1198del)
c.670+1505del (n.670+1505del)
c.541del
c.*973del (n.*973del)
c.787+403del (n.787+403del)
c.787del
c.409+403del (n.409+403del)
c.412+403del (n.412+403del)
c.*1126del (n.*1126del)
c.5-30390del (n.5-30390del)
c.-43-19820del (n.-43-19820del)
c.-99+30930del (n.-99+30930del)
n.1326del
n.1367del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched