Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43093750_43094886delCA10602596BRCA1c.671-27_1780del
c.530-27_1639del
c.671-27_787+993del
n.807-27_1916del
n.848-27_1957del
c.670+959_670+2095del (p.=)
n.22-27_1131del
c.*454-27_*1563del
c.593-27_1702del
c.668-27_784+993del
n.293-27_409+993del
n.296-27_412+993del
c.530-27_646+993del
c.4+30295_5-29800del (p.=)
c.-43-20366_-43-19230del (p.=)
c.-99+30384_-99+31520del (p.=)
c.548-27_1657del
 ClinVar
17g.43094312_43094354delCA000780BRCA1c.1175_1217del (p.Leu393ProfsTer3)
c.1034_1076del (p.Leu346ProfsTer3)
c.787+388_787+430del (p.=)
n.1311_1353del
n.1352_1394del
c.670+1490_670+1532del (p.=)
n.526_568del
c.*958_*1000del (p.=)
n.772_814del
c.1097_1139del (p.Leu367ProfsTer3)
c.784+388_784+430del (p.=)
n.409+388_409+430del (p.=)
n.412+388_412+430del (p.=)
c.*1111_*1153del (p.=)
c.646+388_646+430del (p.=)
c.287_329del (p.Leu97ProfsTer3)
c.5-30405_5-30363del (p.=)
c.-43-19835_-43-19793del (p.=)
c.-99+30915_-99+30957del (p.=)
c.1052_1094del (p.Leu352ProfsTer3)
 ClinVar dbSNP
17g.43094313_43094356delCA000781BRCA1c.1175_1218del (p.Leu392ArgfsTer5)
c.1034_1077del (p.Leu345ArgfsTer5)
c.787+388_787+431del (p.=)
n.1311_1354del
n.1352_1395del
c.670+1490_670+1533del (p.=)
n.526_569del
c.*958_*1001del (p.=)
n.772_815del
c.1097_1140del (p.Leu366ArgfsTer5)
c.784+388_784+431del (p.=)
n.409+388_409+431del (p.=)
n.412+388_412+431del (p.=)
c.*1111_*1154del (p.=)
c.646+388_646+431del (p.=)
c.287_330del (p.Leu96ArgfsTer5)
c.5-30405_5-30362del (p.=)
c.-43-19835_-43-19792del (p.=)
c.-99+30915_-99+30958del (p.=)
c.1052_1095del (p.Leu351ArgfsTer5)
 ClinVar dbSNP
17g.43094315_43094356delCA000779BRCA1c.1175_1216del (p.Leu392_Asn406delinsHis)
c.1034_1075del (p.Leu345_Asn359delinsHis)
c.787+388_787+429del (p.=)
n.1311_1352del
n.1352_1393del
c.670+1490_670+1531del (p.=)
n.526_567del
c.*958_*999del (p.=)
n.772_813del
c.1097_1138del (p.Leu366_Asn380delinsHis)
c.784+388_784+429del (p.=)
n.409+388_409+429del (p.=)
n.412+388_412+429del (p.=)
c.*1111_*1152del (p.=)
c.646+388_646+429del (p.=)
c.287_328del (p.Leu96_Asn110delinsHis)
c.5-30405_5-30364del (p.=)
c.-43-19835_-43-19794del (p.=)
c.-99+30915_-99+30956del (p.=)
c.1052_1093del (p.Leu351_Asn365delinsHis)
 ClinVar dbSNP
17g.43094316_43094355delCA658824533BRCA1c.1176_1215del (p.Leu393MetfsTer4)
c.1035_1074del (p.Leu346MetfsTer4)
c.787+389_787+428del (p.=)
n.1312_1351del
n.1353_1392del
c.670+1491_670+1530del (p.=)
n.527_566del
c.*959_*998del (p.=)
n.773_812del
c.1098_1137del (p.Leu367MetfsTer4)
c.784+389_784+428del (p.=)
n.409+389_409+428del (p.=)
n.412+389_412+428del (p.=)
c.*1112_*1151del (p.=)
c.646+389_646+428del (p.=)
c.288_327del (p.Leu97MetfsTer4)
c.5-30404_5-30365del (p.=)
c.-43-19834_-43-19795del (p.=)
c.-99+30916_-99+30955del (p.=)
c.1053_1092del (p.Leu352MetfsTer4)
 ClinVar dbSNP
17g.43094316_43094356delCA000778BRCA1c.1175_1215del (p.Leu392GlnfsTer6)
c.1034_1074del (p.Leu345GlnfsTer6)
c.787+388_787+428del (p.=)
n.1311_1351del
n.1352_1392del
c.670+1490_670+1530del (p.=)
n.526_566del
c.*958_*998del (p.=)
n.772_812del
c.1097_1137del (p.Leu366GlnfsTer6)
c.784+388_784+428del (p.=)
n.409+388_409+428del (p.=)
n.412+388_412+428del (p.=)
c.*1111_*1151del (p.=)
c.646+388_646+428del (p.=)
c.287_327del (p.Leu96GlnfsTer6)
c.5-30405_5-30365del (p.=)
c.-43-19835_-43-19795del (p.=)
c.-99+30915_-99+30955del (p.=)
c.1052_1092del (p.Leu351GlnfsTer6)
 ClinVar dbSNP
17g.43094317_43094356delCA000776BRCA1c.1174_1213del (p.Leu392GlnfsTer5)
c.1033_1072del (p.Leu345GlnfsTer5)
c.787+387_787+426del (p.=)
n.1310_1349del
n.1351_1390del
c.670+1489_670+1528del (p.=)
n.525_564del
c.*957_*996del (p.=)
n.771_810del
c.1096_1135del (p.Leu366GlnfsTer5)
c.784+387_784+426del (p.=)
n.409+387_409+426del (p.=)
n.412+387_412+426del (p.=)
c.*1110_*1149del (p.=)
c.646+387_646+426del (p.=)
c.286_325del (p.Leu96GlnfsTer5)
c.5-30406_5-30367del (p.=)
c.-43-19836_-43-19797del (p.=)
c.-99+30914_-99+30953del (p.=)
c.1051_1090del (p.Leu351GlnfsTer5)
 ClinVar dbSNP ExAC gnomAD
17g.43094324_43094363delCA1139532220BRCA1c.1165_1204del (p.Asp390LeufsTer7)
c.1024_1063del (p.Asp343LeufsTer7)
c.787+378_787+417del (p.=)
n.1301_1340del
n.1342_1381del
c.670+1480_670+1519del (p.=)
n.516_555del
c.*948_*987del (p.=)
n.762_801del
c.1087_1126del (p.Asp364LeufsTer7)
c.784+378_784+417del (p.=)
n.409+378_409+417del (p.=)
n.412+378_412+417del (p.=)
c.*1101_*1140del (p.=)
c.646+378_646+417del (p.=)
c.277_316del (p.Asp94LeufsTer7)
c.5-30415_5-30376del (p.=)
c.-43-19845_-43-19806del (p.=)
c.-99+30905_-99+30944del (p.=)
c.1042_1081del (p.Asp349LeufsTer7)
17g.43094325_43094331delinsACCTAACAGTTCATGTGAGCA658653707BRCA1c.1200_1206delinsCTCACATGAACTGTTAGGT (p.Gly401_Glu402delinsSerHisGluLeuLeuGly)
c.1059_1065delinsCTCACATGAACTGTTAGGT (p.Gly354_Glu355delinsSerHisGluLeuLeuGly)
c.787+413_787+419delinsCTCACATGAACTGTTAGGT (p.=)
n.1336_1342delinsCTCACATGAACTGTTAGGT
n.1377_1383delinsCTCACATGAACTGTTAGGT
c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT (p.=)
n.551_557delinsCTCACATGAACTGTTAGGT
c.*983_*989delinsCTCACATGAACTGTTAGGT (p.=)
n.797_803delinsCTCACATGAACTGTTAGGT
c.1122_1128delinsCTCACATGAACTGTTAGGT (p.Gly375_Glu376delinsSerHisGluLeuLeuGly)
c.784+413_784+419delinsCTCACATGAACTGTTAGGT (p.=)
n.409+413_409+419delinsCTCACATGAACTGTTAGGT (p.=)
n.412+413_412+419delinsCTCACATGAACTGTTAGGT (p.=)
c.*1136_*1142delinsCTCACATGAACTGTTAGGT (p.=)
c.646+413_646+419delinsCTCACATGAACTGTTAGGT (p.=)
c.312_318delinsCTCACATGAACTGTTAGGT (p.Gly105_Glu106delinsSerHisGluLeuLeuGly)
c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT (p.=)
c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT (p.=)
c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT (p.=)
c.1077_1083delinsCTCACATGAACTGTTAGGT (p.Gly360_Glu361delinsSerHisGluLeuLeuGly)
 ClinVar dbSNP
17g.43094327delCA000793BRCA1c.1201del (p.Glu402SerfsTer8)
c.1060del (p.Glu355SerfsTer8)
c.787+414del (p.=)
n.1337del
n.1378del
c.670+1516del (p.=)
n.552del
c.*984del (p.=)
n.798del
c.1123del (p.Glu376SerfsTer8)
c.784+414del (p.=)
n.409+414del (p.=)
n.412+414del (p.=)
c.*1137del (p.=)
c.646+414del (p.=)
c.313del (p.Glu106SerfsTer8)
c.5-30379del (p.=)
c.-43-19809del (p.=)
c.-99+30941del (p.=)
c.1078del (p.Glu361SerfsTer8)
 ClinVar dbSNP
17g.43094330C>ACA10599646BRCA1c.1201G>T (p.Gly401Trp)
c.1060G>T (p.Gly354Trp)
c.787+414G>T (p.=)
n.1337G>T
n.1378G>T
c.670+1516G>T (p.=)
n.552G>T
c.*984G>T (p.=)
n.798G>T
c.1123G>T (p.Gly375Trp)
c.784+414G>T (p.=)
n.409+414G>T (p.=)
n.412+414G>T (p.=)
c.*1137G>T (p.=)
c.646+414G>T (p.=)
c.313G>T (p.Gly105Trp)
c.5-30379G>T (p.=)
c.-43-19809G>T (p.=)
c.-99+30941G>T (p.=)
c.1078G>T (p.Gly360Trp)
17g.43094330C>GCA10599647BRCA1c.1201G>C (p.Gly401Arg)
c.1060G>C (p.Gly354Arg)
c.787+414G>C (p.=)
n.1337G>C
n.1378G>C
c.670+1516G>C (p.=)
n.552G>C
c.*984G>C (p.=)
n.798G>C
c.1123G>C (p.Gly375Arg)
c.784+414G>C (p.=)
n.409+414G>C (p.=)
n.412+414G>C (p.=)
c.*1137G>C (p.=)
c.646+414G>C (p.=)
c.313G>C (p.Gly105Arg)
c.5-30379G>C (p.=)
c.-43-19809G>C (p.=)
c.-99+30941G>C (p.=)
c.1078G>C (p.Gly360Arg)
17g.43094330C>TCA10599648BRCA1c.1201G>A (p.Gly401Arg)
c.1060G>A (p.Gly354Arg)
c.787+414G>A (p.=)
n.1337G>A
n.1378G>A
c.670+1516G>A (p.=)
n.552G>A
c.*984G>A (p.=)
n.798G>A
c.1123G>A (p.Gly375Arg)
c.784+414G>A (p.=)
n.409+414G>A (p.=)
n.412+414G>A (p.=)
c.*1137G>A (p.=)
c.646+414G>A (p.=)
c.313G>A (p.Gly105Arg)
c.5-30379G>A (p.=)
c.-43-19809G>A (p.=)
c.-99+30941G>A (p.=)
c.1078G>A (p.Gly360Arg)
 ClinVar
17g.43094331A>CCA10599649BRCA1c.1200T>G (p.Asp400Glu)
c.1059T>G (p.Asp353Glu)
c.787+413T>G (p.=)
n.1336T>G
n.1377T>G
c.670+1515T>G (p.=)
n.551T>G
c.*983T>G (p.=)
n.797T>G
c.1122T>G (p.Asp374Glu)
c.784+413T>G (p.=)
n.409+413T>G (p.=)
n.412+413T>G (p.=)
c.*1136T>G (p.=)
c.646+413T>G (p.=)
c.312T>G (p.Asp104Glu)
c.5-30380T>G (p.=)
c.-43-19810T>G (p.=)
c.-99+30940T>G (p.=)
c.1077T>G (p.Asp359Glu)
17g.43094331A>GCA500233582BRCA1c.1200T>C (p.Asp400=)
c.1059T>C (p.Asp353=)
c.787+413T>C (p.=)
n.1336T>C
n.1377T>C
c.670+1515T>C (p.=)
n.551T>C
c.*983T>C (p.=)
n.797T>C
c.1122T>C (p.Asp374=)
c.784+413T>C (p.=)
n.409+413T>C (p.=)
n.412+413T>C (p.=)
c.*1136T>C (p.=)
c.646+413T>C (p.=)
c.312T>C (p.Asp104=)
c.5-30380T>C (p.=)
c.-43-19810T>C (p.=)
c.-99+30940T>C (p.=)
c.1077T>C (p.Asp359=)
17g.43094331A>TCA10599650BRCA1c.1200T>A (p.Asp400Glu)
c.1059T>A (p.Asp353Glu)
c.787+413T>A (p.=)
n.1336T>A
n.1377T>A
c.670+1515T>A (p.=)
n.551T>A
c.*983T>A (p.=)
n.797T>A
c.1122T>A (p.Asp374Glu)
c.784+413T>A (p.=)
n.409+413T>A (p.=)
n.412+413T>A (p.=)
c.*1136T>A (p.=)
c.646+413T>A (p.=)
c.312T>A (p.Asp104Glu)
c.5-30380T>A (p.=)
c.-43-19810T>A (p.=)
c.-99+30940T>A (p.=)
c.1077T>A (p.Asp359Glu)
17g.43094332T>ACA10599651BRCA1c.1199A>T (p.Asp400Val)
c.1058A>T (p.Asp353Val)
c.787+412A>T (p.=)
n.1335A>T
n.1376A>T
c.670+1514A>T (p.=)
n.550A>T
c.*982A>T (p.=)
n.796A>T
c.1121A>T (p.Asp374Val)
c.784+412A>T (p.=)
n.409+412A>T (p.=)
n.412+412A>T (p.=)
c.*1135A>T (p.=)
c.646+412A>T (p.=)
c.311A>T (p.Asp104Val)
c.5-30381A>T (p.=)
c.-43-19811A>T (p.=)
c.-99+30939A>T (p.=)
c.1076A>T (p.Asp359Val)
17g.43094332T>CCA10599652BRCA1c.1199A>G (p.Asp400Gly)
c.1058A>G (p.Asp353Gly)
c.787+412A>G (p.=)
n.1335A>G
n.1376A>G
c.670+1514A>G (p.=)
n.550A>G
c.*982A>G (p.=)
n.796A>G
c.1121A>G (p.Asp374Gly)
c.784+412A>G (p.=)
n.409+412A>G (p.=)
n.412+412A>G (p.=)
c.*1135A>G (p.=)
c.646+412A>G (p.=)
c.311A>G (p.Asp104Gly)
c.5-30381A>G (p.=)
c.-43-19811A>G (p.=)
c.-99+30939A>G (p.=)
c.1076A>G (p.Asp359Gly)
 ClinVar
17g.43094332T>GCA10599653BRCA1c.1199A>C (p.Asp400Ala)
c.1058A>C (p.Asp353Ala)
c.787+412A>C (p.=)
n.1335A>C
n.1376A>C
c.670+1514A>C (p.=)
n.550A>C
c.*982A>C (p.=)
n.796A>C
c.1121A>C (p.Asp374Ala)
c.784+412A>C (p.=)
n.409+412A>C (p.=)
n.412+412A>C (p.=)
c.*1135A>C (p.=)
c.646+412A>C (p.=)
c.311A>C (p.Asp104Ala)
c.5-30381A>C (p.=)
c.-43-19811A>C (p.=)
c.-99+30939A>C (p.=)
c.1076A>C (p.Asp359Ala)
17g.43094333C>ACA10599654BRCA1c.1198G>T (p.Asp400Tyr)
c.1057G>T (p.Asp353Tyr)
c.787+411G>T (p.=)
n.1334G>T
n.1375G>T
c.670+1513G>T (p.=)
n.549G>T
c.*981G>T (p.=)
n.795G>T
c.1120G>T (p.Asp374Tyr)
c.784+411G>T (p.=)
n.409+411G>T (p.=)
n.412+411G>T (p.=)
c.*1134G>T (p.=)
c.646+411G>T (p.=)
c.310G>T (p.Asp104Tyr)
c.5-30382G>T (p.=)
c.-43-19812G>T (p.=)
c.-99+30938G>T (p.=)
c.1075G>T (p.Asp359Tyr)
17g.43094333C>GCA10599655BRCA1c.1198G>C (p.Asp400His)
c.1057G>C (p.Asp353His)
c.787+411G>C (p.=)
n.1334G>C
n.1375G>C
c.670+1513G>C (p.=)
n.549G>C
c.*981G>C (p.=)
n.795G>C
c.1120G>C (p.Asp374His)
c.784+411G>C (p.=)
n.409+411G>C (p.=)
n.412+411G>C (p.=)
c.*1134G>C (p.=)
c.646+411G>C (p.=)
c.310G>C (p.Asp104His)
c.5-30382G>C (p.=)
c.-43-19812G>C (p.=)
c.-99+30938G>C (p.=)
c.1075G>C (p.Asp359His)
17g.43094333C>TCA10599656BRCA1c.1198G>A (p.Asp400Asn)
c.1057G>A (p.Asp353Asn)
c.787+411G>A (p.=)
n.1334G>A
n.1375G>A
c.670+1513G>A (p.=)
n.549G>A
c.*981G>A (p.=)
n.795G>A
c.1120G>A (p.Asp374Asn)
c.784+411G>A (p.=)
n.409+411G>A (p.=)
n.412+411G>A (p.=)
c.*1134G>A (p.=)
c.646+411G>A (p.=)
c.310G>A (p.Asp104Asn)
c.5-30382G>A (p.=)
c.-43-19812G>A (p.=)
c.-99+30938G>A (p.=)
c.1075G>A (p.Asp359Asn)
17g.43094334A>CCA10599657BRCA1c.1197T>G (p.His399Gln)
c.1056T>G (p.His352Gln)
c.787+410T>G (p.=)
n.1333T>G
n.1374T>G
c.670+1512T>G (p.=)
n.548T>G
c.*980T>G (p.=)
n.794T>G
c.1119T>G (p.His373Gln)
c.784+410T>G (p.=)
n.409+410T>G (p.=)
n.412+410T>G (p.=)
c.*1133T>G (p.=)
c.646+410T>G (p.=)
c.309T>G (p.His103Gln)
c.5-30383T>G (p.=)
c.-43-19813T>G (p.=)
c.-99+30937T>G (p.=)
c.1074T>G (p.His358Gln)
17g.43094334A>GCA500233587BRCA1c.1197T>C (p.His399=)
c.1056T>C (p.His352=)
c.787+410T>C (p.=)
n.1333T>C
n.1374T>C
c.670+1512T>C (p.=)
n.548T>C
c.*980T>C (p.=)
n.794T>C
c.1119T>C (p.His373=)
c.784+410T>C (p.=)
n.409+410T>C (p.=)
n.412+410T>C (p.=)
c.*1133T>C (p.=)
c.646+410T>C (p.=)
c.309T>C (p.His103=)
c.5-30383T>C (p.=)
c.-43-19813T>C (p.=)
c.-99+30937T>C (p.=)
c.1074T>C (p.His358=)
 ClinVar
17g.43094334A>TCA10599658BRCA1c.1197T>A (p.His399Gln)
c.1056T>A (p.His352Gln)
c.787+410T>A (p.=)
n.1333T>A
n.1374T>A
c.670+1512T>A (p.=)
n.548T>A
c.*980T>A (p.=)
n.794T>A
c.1119T>A (p.His373Gln)
c.784+410T>A (p.=)
n.409+410T>A (p.=)
n.412+410T>A (p.=)
c.*1133T>A (p.=)
c.646+410T>A (p.=)
c.309T>A (p.His103Gln)
c.5-30383T>A (p.=)
c.-43-19813T>A (p.=)
c.-99+30937T>A (p.=)
c.1074T>A (p.His358Gln)
17g.43094335T>ACA10599659BRCA1c.1196A>T (p.His399Leu)
c.1055A>T (p.His352Leu)
c.787+409A>T (p.=)
n.1332A>T
n.1373A>T
c.670+1511A>T (p.=)
n.547A>T
c.*979A>T (p.=)
n.793A>T
c.1118A>T (p.His373Leu)
c.784+409A>T (p.=)
n.409+409A>T (p.=)
n.412+409A>T (p.=)
c.*1132A>T (p.=)
c.646+409A>T (p.=)
c.308A>T (p.His103Leu)
c.5-30384A>T (p.=)
c.-43-19814A>T (p.=)
c.-99+30936A>T (p.=)
c.1073A>T (p.His358Leu)
17g.43094335T>CCA000787BRCA1c.1196A>G (p.His399Arg)
c.1055A>G (p.His352Arg)
c.787+409A>G (p.=)
n.1332A>G
n.1373A>G
c.670+1511A>G (p.=)
n.547A>G
c.*979A>G (p.=)
n.793A>G
c.1118A>G (p.His373Arg)
c.784+409A>G (p.=)
n.409+409A>G (p.=)
n.412+409A>G (p.=)
c.*1132A>G (p.=)
c.646+409A>G (p.=)
c.308A>G (p.His103Arg)
c.5-30384A>G (p.=)
c.-43-19814A>G (p.=)
c.-99+30936A>G (p.=)
c.1073A>G (p.His358Arg)
 ClinVar dbSNP gnomAD
17g.43094335T>GCA10599660BRCA1c.1196A>C (p.His399Pro)
c.1055A>C (p.His352Pro)
c.787+409A>C (p.=)
n.1332A>C
n.1373A>C
c.670+1511A>C (p.=)
n.547A>C
c.*979A>C (p.=)
n.793A>C
c.1118A>C (p.His373Pro)
c.784+409A>C (p.=)
n.409+409A>C (p.=)
n.412+409A>C (p.=)
c.*1132A>C (p.=)
c.646+409A>C (p.=)
c.308A>C (p.His103Pro)
c.5-30384A>C (p.=)
c.-43-19814A>C (p.=)
c.-99+30936A>C (p.=)
c.1073A>C (p.His358Pro)
17g.43094336G>ACA10599661BRCA1c.1195C>T (p.His399Tyr)
c.1054C>T (p.His352Tyr)
c.787+408C>T (p.=)
n.1331C>T
n.1372C>T
c.670+1510C>T (p.=)
n.546C>T
c.*978C>T (p.=)
n.792C>T
c.1117C>T (p.His373Tyr)
c.784+408C>T (p.=)
n.409+408C>T (p.=)
n.412+408C>T (p.=)
c.*1131C>T (p.=)
c.646+408C>T (p.=)
c.307C>T (p.His103Tyr)
c.5-30385C>T (p.=)
c.-43-19815C>T (p.=)
c.-99+30935C>T (p.=)
c.1072C>T (p.His358Tyr)
17g.43094336G>CCA10599662BRCA1c.1195C>G (p.His399Asp)
c.1054C>G (p.His352Asp)
c.787+408C>G (p.=)
n.1331C>G
n.1372C>G
c.670+1510C>G (p.=)
n.546C>G
c.*978C>G (p.=)
n.792C>G
c.1117C>G (p.His373Asp)
c.784+408C>G (p.=)
n.409+408C>G (p.=)
n.412+408C>G (p.=)
c.*1131C>G (p.=)
c.646+408C>G (p.=)
c.307C>G (p.His103Asp)
c.5-30385C>G (p.=)
c.-43-19815C>G (p.=)
c.-99+30935C>G (p.=)
c.1072C>G (p.His358Asp)
17g.43094336G>TCA10599663BRCA1c.1195C>A (p.His399Asn)
c.1054C>A (p.His352Asn)
c.787+408C>A (p.=)
n.1331C>A
n.1372C>A
c.670+1510C>A (p.=)
n.546C>A
c.*978C>A (p.=)
n.792C>A
c.1117C>A (p.His373Asn)
c.784+408C>A (p.=)
n.409+408C>A (p.=)
n.412+408C>A (p.=)
c.*1131C>A (p.=)
c.646+408C>A (p.=)
c.307C>A (p.His103Asn)
c.5-30385C>A (p.=)
c.-43-19815C>A (p.=)
c.-99+30935C>A (p.=)
c.1072C>A (p.His358Asn)
17g.43094337T>ACA500233593BRCA1c.1194A>T (p.Ser398=)
c.1053A>T (p.Ser351=)
c.787+407A>T (p.=)
n.1330A>T
n.1371A>T
c.670+1509A>T (p.=)
n.545A>T
c.*977A>T (p.=)
n.791A>T
c.1116A>T (p.Ser372=)
c.784+407A>T (p.=)
n.409+407A>T (p.=)
n.412+407A>T (p.=)
c.*1130A>T (p.=)
c.646+407A>T (p.=)
c.306A>T (p.Ser102=)
c.5-30386A>T (p.=)
c.-43-19816A>T (p.=)
c.-99+30934A>T (p.=)
c.1071A>T (p.Ser357=)
17g.43094337T>CCA500233590BRCA1c.1194A>G (p.Ser398=)
c.1053A>G (p.Ser351=)
c.787+407A>G (p.=)
n.1330A>G
n.1371A>G
c.670+1509A>G (p.=)
n.545A>G
c.*977A>G (p.=)
n.791A>G
c.1116A>G (p.Ser372=)
c.784+407A>G (p.=)
n.409+407A>G (p.=)
n.412+407A>G (p.=)
c.*1130A>G (p.=)
c.646+407A>G (p.=)
c.306A>G (p.Ser102=)
c.5-30386A>G (p.=)
c.-43-19816A>G (p.=)
c.-99+30934A>G (p.=)
c.1071A>G (p.Ser357=)
17g.43094337T>GCA500233592BRCA1c.1194A>C (p.Ser398=)
c.1053A>C (p.Ser351=)
c.787+407A>C (p.=)
n.1330A>C
n.1371A>C
c.670+1509A>C (p.=)
n.545A>C
c.*977A>C (p.=)
n.791A>C
c.1116A>C (p.Ser372=)
c.784+407A>C (p.=)
n.409+407A>C (p.=)
n.412+407A>C (p.=)
c.*1130A>C (p.=)
c.646+407A>C (p.=)
c.306A>C (p.Ser102=)
c.5-30386A>C (p.=)
c.-43-19816A>C (p.=)
c.-99+30934A>C (p.=)
c.1071A>C (p.Ser357=)
17g.43094337dupCA658824535BRCA1c.1194dup (p.His399ThrfsTer2)
c.1053dup (p.His352ThrfsTer2)
c.787+407dup (p.=)
n.1330dup
n.1371dup
c.670+1509dup (p.=)
n.545dup
c.*977dup (p.=)
n.791dup
c.1116dup (p.His373ThrfsTer2)
c.784+407dup (p.=)
n.409+407dup (p.=)
n.412+407dup (p.=)
c.*1130dup (p.=)
c.646+407dup (p.=)
c.306dup (p.His103ThrfsTer2)
c.5-30386dup (p.=)
c.-43-19816dup (p.=)
c.-99+30934dup (p.=)
c.1071dup (p.His358ThrfsTer2)
 ClinVar dbSNP
17g.43094338G>ACA057085BRCA1c.1193C>T (p.Ser398Leu)
c.1052C>T (p.Ser351Leu)
c.787+406C>T (p.=)
n.1329C>T
n.1370C>T
c.670+1508C>T (p.=)
n.544C>T
c.*976C>T (p.=)
n.790C>T
c.1115C>T (p.Ser372Leu)
c.784+406C>T (p.=)
n.409+406C>T (p.=)
n.412+406C>T (p.=)
c.*1129C>T (p.=)
c.646+406C>T (p.=)
c.305C>T (p.Ser102Leu)
c.5-30387C>T (p.=)
c.-43-19817C>T (p.=)
c.-99+30933C>T (p.=)
c.1070C>T (p.Ser357Leu)
 ClinVar dbSNP ExAC gnomAD
17g.43094338G>CCA000786BRCA1c.1193C>G (p.Ser398Ter)
c.1052C>G (p.Ser351Ter)
c.787+406C>G (p.=)
n.1329C>G
n.1370C>G
c.670+1508C>G (p.=)
n.544C>G
c.*976C>G (p.=)
n.790C>G
c.1115C>G (p.Ser372Ter)
c.784+406C>G (p.=)
n.409+406C>G (p.=)
n.412+406C>G (p.=)
c.*1129C>G (p.=)
c.646+406C>G (p.=)
c.305C>G (p.Ser102Ter)
c.5-30387C>G (p.=)
c.-43-19817C>G (p.=)
c.-99+30933C>G (p.=)
c.1070C>G (p.Ser357Ter)
 ClinVar dbSNP
17g.43094338G>TCA000785BRCA1c.1193C>A (p.Ser398Ter)
c.1052C>A (p.Ser351Ter)
c.787+406C>A (p.=)
n.1329C>A
n.1370C>A
c.670+1508C>A (p.=)
n.544C>A
c.*976C>A (p.=)
n.790C>A
c.1115C>A (p.Ser372Ter)
c.784+406C>A (p.=)
n.409+406C>A (p.=)
n.412+406C>A (p.=)
c.*1129C>A (p.=)
c.646+406C>A (p.=)
c.305C>A (p.Ser102Ter)
c.5-30387C>A (p.=)
c.-43-19817C>A (p.=)
c.-99+30933C>A (p.=)
c.1070C>A (p.Ser357Ter)
 ClinVar dbSNP
17g.43094339A>CCA10599664BRCA1c.1192T>G (p.Ser398Ala)
c.1051T>G (p.Ser351Ala)
c.787+405T>G (p.=)
n.1328T>G
n.1369T>G
c.670+1507T>G (p.=)
n.543T>G
c.*975T>G (p.=)
n.789T>G
c.1114T>G (p.Ser372Ala)
c.784+405T>G (p.=)
n.409+405T>G (p.=)
n.412+405T>G (p.=)
c.*1128T>G (p.=)
c.646+405T>G (p.=)
c.304T>G (p.Ser102Ala)
c.5-30388T>G (p.=)
c.-43-19818T>G (p.=)
c.-99+30932T>G (p.=)
c.1069T>G (p.Ser357Ala)
 ClinVar
17g.43094339A>GCA10599665BRCA1c.1192T>C (p.Ser398Pro)
c.1051T>C (p.Ser351Pro)
c.787+405T>C (p.=)
n.1328T>C
n.1369T>C
c.670+1507T>C (p.=)
n.543T>C
c.*975T>C (p.=)
n.789T>C
c.1114T>C (p.Ser372Pro)
c.784+405T>C (p.=)
n.409+405T>C (p.=)
n.412+405T>C (p.=)
c.*1128T>C (p.=)
c.646+405T>C (p.=)
c.304T>C (p.Ser102Pro)
c.5-30388T>C (p.=)
c.-43-19818T>C (p.=)
c.-99+30932T>C (p.=)
c.1069T>C (p.Ser357Pro)
17g.43094339A>TCA10599666BRCA1c.1192T>A (p.Ser398Thr)
c.1051T>A (p.Ser351Thr)
c.787+405T>A (p.=)
n.1328T>A
n.1369T>A
c.670+1507T>A (p.=)
n.543T>A
c.*975T>A (p.=)
n.789T>A
c.1114T>A (p.Ser372Thr)
c.784+405T>A (p.=)
n.409+405T>A (p.=)
n.412+405T>A (p.=)
c.*1128T>A (p.=)
c.646+405T>A (p.=)
c.304T>A (p.Ser102Thr)
c.5-30388T>A (p.=)
c.-43-19818T>A (p.=)
c.-99+30932T>A (p.=)
c.1069T>A (p.Ser357Thr)
17g.43094340G>ACA500233598BRCA1c.1191C>T (p.Asp397=)
c.1050C>T (p.Asp350=)
c.787+404C>T (p.=)
n.1327C>T
n.1368C>T
c.670+1506C>T (p.=)
n.542C>T
c.*974C>T (p.=)
n.788C>T
c.1113C>T (p.Asp371=)
c.784+404C>T (p.=)
n.409+404C>T (p.=)
n.412+404C>T (p.=)
c.*1127C>T (p.=)
c.646+404C>T (p.=)
c.303C>T (p.Asp101=)
c.5-30389C>T (p.=)
c.-43-19819C>T (p.=)
c.-99+30931C>T (p.=)
c.1068C>T (p.Asp356=)
17g.43094340G>CCA10599667BRCA1c.1191C>G (p.Asp397Glu)
c.1050C>G (p.Asp350Glu)
c.787+404C>G (p.=)
n.1327C>G
n.1368C>G
c.670+1506C>G (p.=)
n.542C>G
c.*974C>G (p.=)
n.788C>G
c.1113C>G (p.Asp371Glu)
c.784+404C>G (p.=)
n.409+404C>G (p.=)
n.412+404C>G (p.=)
c.*1127C>G (p.=)
c.646+404C>G (p.=)
c.303C>G (p.Asp101Glu)
c.5-30389C>G (p.=)
c.-43-19819C>G (p.=)
c.-99+30931C>G (p.=)
c.1068C>G (p.Asp356Glu)
17g.43094340G>TCA10599668BRCA1c.1191C>A (p.Asp397Glu)
c.1050C>A (p.Asp350Glu)
c.787+404C>A (p.=)
n.1327C>A
n.1368C>A
c.670+1506C>A (p.=)
n.542C>A
c.*974C>A (p.=)
n.788C>A
c.1113C>A (p.Asp371Glu)
c.784+404C>A (p.=)
n.409+404C>A (p.=)
n.412+404C>A (p.=)
c.*1127C>A (p.=)
c.646+404C>A (p.=)
c.303C>A (p.Asp101Glu)
c.5-30389C>A (p.=)
c.-43-19819C>A (p.=)
c.-99+30931C>A (p.=)
c.1068C>A (p.Asp356Glu)
17g.43094341delCA057081BRCA1c.1190del (p.Asp397AlafsTer13)
c.1049del (p.Asp350AlafsTer13)
c.787+403del (p.=)
n.1326del
n.1367del
c.670+1505del (p.=)
n.541del
c.*973del (p.=)
n.787del
c.1112del (p.Asp371AlafsTer13)
c.784+403del (p.=)
n.409+403del (p.=)
n.412+403del (p.=)
c.*1126del (p.=)
c.646+403del (p.=)
c.302del (p.Asp101AlafsTer13)
c.5-30390del (p.=)
c.-43-19820del (p.=)
c.-99+30930del (p.=)
c.1067del (p.Asp356AlafsTer13)
 ClinVar dbSNP ExAC gnomAD
17g.43094341T>ACA057074BRCA1c.1190A>T (p.Asp397Val)
c.1049A>T (p.Asp350Val)
c.787+403A>T (p.=)
n.1326A>T
n.1367A>T
c.670+1505A>T (p.=)
n.541A>T
c.*973A>T (p.=)
n.787A>T
c.1112A>T (p.Asp371Val)
c.784+403A>T (p.=)
n.409+403A>T (p.=)
n.412+403A>T (p.=)
c.*1126A>T (p.=)
c.646+403A>T (p.=)
c.302A>T (p.Asp101Val)
c.5-30390A>T (p.=)
c.-43-19820A>T (p.=)
c.-99+30930A>T (p.=)
c.1067A>T (p.Asp356Val)
 ClinVar dbSNP ExAC gnomAD
17g.43094341T>CCA10599669BRCA1c.1190A>G (p.Asp397Gly)
c.1049A>G (p.Asp350Gly)
c.787+403A>G (p.=)
n.1326A>G
n.1367A>G
c.670+1505A>G (p.=)
n.541A>G
c.*973A>G (p.=)
n.787A>G
c.1112A>G (p.Asp371Gly)
c.784+403A>G (p.=)
n.409+403A>G (p.=)
n.412+403A>G (p.=)
c.*1126A>G (p.=)
c.646+403A>G (p.=)
c.302A>G (p.Asp101Gly)
c.5-30390A>G (p.=)
c.-43-19820A>G (p.=)
c.-99+30930A>G (p.=)
c.1067A>G (p.Asp356Gly)
17g.43094341T>GCA10599670BRCA1c.1190A>C (p.Asp397Ala)
c.1049A>C (p.Asp350Ala)
c.787+403A>C (p.=)
n.1326A>C
n.1367A>C
c.670+1505A>C (p.=)
n.541A>C
c.*973A>C (p.=)
n.787A>C
c.1112A>C (p.Asp371Ala)
c.784+403A>C (p.=)
n.409+403A>C (p.=)
n.412+403A>C (p.=)
c.*1126A>C (p.=)
c.646+403A>C (p.=)
c.302A>C (p.Asp101Ala)
c.5-30390A>C (p.=)
c.-43-19820A>C (p.=)
c.-99+30930A>C (p.=)
c.1067A>C (p.Asp356Ala)
17g.43094342C>ACA10599671BRCA1c.1189G>T (p.Asp397Tyr)
c.1048G>T (p.Asp350Tyr)
c.787+402G>T (p.=)
n.1325G>T
n.1366G>T
c.670+1504G>T (p.=)
n.540G>T
c.*972G>T (p.=)
n.786G>T
c.1111G>T (p.Asp371Tyr)
c.784+402G>T (p.=)
n.409+402G>T (p.=)
n.412+402G>T (p.=)
c.*1125G>T (p.=)
c.646+402G>T (p.=)
c.301G>T (p.Asp101Tyr)
c.5-30391G>T (p.=)
c.-43-19821G>T (p.=)
c.-99+30929G>T (p.=)
c.1066G>T (p.Asp356Tyr)
17g.43094342C>GCA10599672BRCA1c.1189G>C (p.Asp397His)
c.1048G>C (p.Asp350His)
c.787+402G>C (p.=)
n.1325G>C
n.1366G>C
c.670+1504G>C (p.=)
n.540G>C
c.*972G>C (p.=)
n.786G>C
c.1111G>C (p.Asp371His)
c.784+402G>C (p.=)
n.409+402G>C (p.=)
n.412+402G>C (p.=)
c.*1125G>C (p.=)
c.646+402G>C (p.=)
c.301G>C (p.Asp101His)
c.5-30391G>C (p.=)
c.-43-19821G>C (p.=)
c.-99+30929G>C (p.=)
c.1066G>C (p.Asp356His)

Number of alleles fetched