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.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.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.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=
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

Number of alleles fetched