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.43094316dupCA645373210BRCA1c.1217dup (p.Asn406LysfsTer6)
c.1076dup (p.Asn359LysfsTer6)
c.787+430dup (p.=)
n.1353dup
n.1394dup
c.670+1532dup (p.=)
n.568dup
c.*1000dup (p.=)
n.814dup
c.1139dup (p.Asn380LysfsTer6)
c.784+430dup (p.=)
n.409+430dup (p.=)
n.412+430dup (p.=)
c.*1153dup (p.=)
c.646+430dup (p.=)
c.329dup (p.Asn110LysfsTer6)
c.5-30363dup (p.=)
c.-43-19793dup (p.=)
c.-99+30957dup (p.=)
c.1094dup (p.Asn365LysfsTer6)
ClinVar dbSNP
17g.43094314delCA000800BRCA1c.1215del (p.Asn406MetfsTer4)
c.1074del (p.Asn359MetfsTer4)
c.787+428del (p.=)
n.1351del
n.1392del
c.670+1530del (p.=)
n.566del
c.*998del (p.=)
n.812del
c.1137del (p.Asn380MetfsTer4)
c.784+428del (p.=)
n.409+428del (p.=)
n.412+428del (p.=)
c.*1151del (p.=)
c.646+428del (p.=)
c.327del (p.Asn110MetfsTer4)
c.5-30365del (p.=)
c.-43-19795del (p.=)
c.-99+30955del (p.=)
c.1092del (p.Asn365MetfsTer4)
ClinVar dbSNP
17g.43094315T>ACA10599619BRCA1c.1216A>T (p.Asn406Tyr)
c.1075A>T (p.Asn359Tyr)
c.787+429A>T (p.=)
n.1352A>T
n.1393A>T
c.670+1531A>T (p.=)
n.567A>T
c.*999A>T (p.=)
n.813A>T
c.1138A>T (p.Asn380Tyr)
c.784+429A>T (p.=)
n.409+429A>T (p.=)
n.412+429A>T (p.=)
c.*1152A>T (p.=)
c.646+429A>T (p.=)
c.328A>T (p.Asn110Tyr)
c.5-30364A>T (p.=)
c.-43-19794A>T (p.=)
c.-99+30956A>T (p.=)
c.1093A>T (p.Asn365Tyr)
17g.43094315T>CCA10599620BRCA1c.1216A>G (p.Asn406Asp)
c.1075A>G (p.Asn359Asp)
c.787+429A>G (p.=)
n.1352A>G
n.1393A>G
c.670+1531A>G (p.=)
n.567A>G
c.*999A>G (p.=)
n.813A>G
c.1138A>G (p.Asn380Asp)
c.784+429A>G (p.=)
n.409+429A>G (p.=)
n.412+429A>G (p.=)
c.*1152A>G (p.=)
c.646+429A>G (p.=)
c.328A>G (p.Asn110Asp)
c.5-30364A>G (p.=)
c.-43-19794A>G (p.=)
c.-99+30956A>G (p.=)
c.1093A>G (p.Asn365Asp)
17g.43094315T>GCA10599621BRCA1c.1216A>C (p.Asn406His)
c.1075A>C (p.Asn359His)
c.787+429A>C (p.=)
n.1352A>C
n.1393A>C
c.670+1531A>C (p.=)
n.567A>C
c.*999A>C (p.=)
n.813A>C
c.1138A>C (p.Asn380His)
c.784+429A>C (p.=)
n.409+429A>C (p.=)
n.412+429A>C (p.=)
c.*1152A>C (p.=)
c.646+429A>C (p.=)
c.328A>C (p.Asn110His)
c.5-30364A>C (p.=)
c.-43-19794A>C (p.=)
c.-99+30956A>C (p.=)
c.1093A>C (p.Asn365His)
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.43094316T>ACA500233557BRCA1c.1215A>T (p.Ser405=)
c.1074A>T (p.Ser358=)
c.787+428A>T (p.=)
n.1351A>T
n.1392A>T
c.670+1530A>T (p.=)
n.566A>T
c.*998A>T (p.=)
n.812A>T
c.1137A>T (p.Ser379=)
c.784+428A>T (p.=)
n.409+428A>T (p.=)
n.412+428A>T (p.=)
c.*1151A>T (p.=)
c.646+428A>T (p.=)
c.327A>T (p.Ser109=)
c.5-30365A>T (p.=)
c.-43-19795A>T (p.=)
c.-99+30955A>T (p.=)
c.1092A>T (p.Ser364=)
17g.43094316T>CCA000799BRCA1c.1215A>G (p.Ser405=)
c.1074A>G (p.Ser358=)
c.787+428A>G (p.=)
n.1351A>G
n.1392A>G
c.670+1530A>G (p.=)
n.566A>G
c.*998A>G (p.=)
n.812A>G
c.1137A>G (p.Ser379=)
c.784+428A>G (p.=)
n.409+428A>G (p.=)
n.412+428A>G (p.=)
c.*1151A>G (p.=)
c.646+428A>G (p.=)
c.327A>G (p.Ser109=)
c.5-30365A>G (p.=)
c.-43-19795A>G (p.=)
c.-99+30955A>G (p.=)
c.1092A>G (p.Ser364=)
ClinVar dbSNP gnomAD
17g.43094316T>GCA500233555BRCA1c.1215A>C (p.Ser405=)
c.1074A>C (p.Ser358=)
c.787+428A>C (p.=)
n.1351A>C
n.1392A>C
c.670+1530A>C (p.=)
n.566A>C
c.*998A>C (p.=)
n.812A>C
c.1137A>C (p.Ser379=)
c.784+428A>C (p.=)
n.409+428A>C (p.=)
n.412+428A>C (p.=)
c.*1151A>C (p.=)
c.646+428A>C (p.=)
c.327A>C (p.Ser109=)
c.5-30365A>C (p.=)
c.-43-19795A>C (p.=)
c.-99+30955A>C (p.=)
c.1092A>C (p.Ser364=)
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.43094317G>ACA10599622BRCA1c.1214C>T (p.Ser405Leu)
c.1073C>T (p.Ser358Leu)
c.787+427C>T (p.=)
n.1350C>T
n.1391C>T
c.670+1529C>T (p.=)
n.565C>T
c.*997C>T (p.=)
n.811C>T
c.1136C>T (p.Ser379Leu)
c.784+427C>T (p.=)
n.409+427C>T (p.=)
n.412+427C>T (p.=)
c.*1150C>T (p.=)
c.646+427C>T (p.=)
c.326C>T (p.Ser109Leu)
c.5-30366C>T (p.=)
c.-43-19796C>T (p.=)
c.-99+30954C>T (p.=)
c.1091C>T (p.Ser364Leu)
17g.43094317G>CCA000798BRCA1c.1214C>G (p.Ser405Ter)
c.1073C>G (p.Ser358Ter)
c.787+427C>G (p.=)
n.1350C>G
n.1391C>G
c.670+1529C>G (p.=)
n.565C>G
c.*997C>G (p.=)
n.811C>G
c.1136C>G (p.Ser379Ter)
c.784+427C>G (p.=)
n.409+427C>G (p.=)
n.412+427C>G (p.=)
c.*1150C>G (p.=)
c.646+427C>G (p.=)
c.326C>G (p.Ser109Ter)
c.5-30366C>G (p.=)
c.-43-19796C>G (p.=)
c.-99+30954C>G (p.=)
c.1091C>G (p.Ser364Ter)
ClinVar dbSNP
17g.43094317G>TCA000796BRCA1c.1214C>A (p.Ser405Ter)
c.1073C>A (p.Ser358Ter)
c.787+427C>A (p.=)
n.1350C>A
n.1391C>A
c.670+1529C>A (p.=)
n.565C>A
c.*997C>A (p.=)
n.811C>A
c.1136C>A (p.Ser379Ter)
c.784+427C>A (p.=)
n.409+427C>A (p.=)
n.412+427C>A (p.=)
c.*1150C>A (p.=)
c.646+427C>A (p.=)
c.326C>A (p.Ser109Ter)
c.5-30366C>A (p.=)
c.-43-19796C>A (p.=)
c.-99+30954C>A (p.=)
c.1091C>A (p.Ser364Ter)
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.43094318A>CCA10599623BRCA1c.1213T>G (p.Ser405Ala)
c.1072T>G (p.Ser358Ala)
c.787+426T>G (p.=)
n.1349T>G
n.1390T>G
c.670+1528T>G (p.=)
n.564T>G
c.*996T>G (p.=)
n.810T>G
c.1135T>G (p.Ser379Ala)
c.784+426T>G (p.=)
n.409+426T>G (p.=)
n.412+426T>G (p.=)
c.*1149T>G (p.=)
c.646+426T>G (p.=)
c.325T>G (p.Ser109Ala)
c.5-30367T>G (p.=)
c.-43-19797T>G (p.=)
c.-99+30953T>G (p.=)
c.1090T>G (p.Ser364Ala)
17g.43094318A>GCA10599624BRCA1c.1213T>C (p.Ser405Pro)
c.1072T>C (p.Ser358Pro)
c.787+426T>C (p.=)
n.1349T>C
n.1390T>C
c.670+1528T>C (p.=)
n.564T>C
c.*996T>C (p.=)
n.810T>C
c.1135T>C (p.Ser379Pro)
c.784+426T>C (p.=)
n.409+426T>C (p.=)
n.412+426T>C (p.=)
c.*1149T>C (p.=)
c.646+426T>C (p.=)
c.325T>C (p.Ser109Pro)
c.5-30367T>C (p.=)
c.-43-19797T>C (p.=)
c.-99+30953T>C (p.=)
c.1090T>C (p.Ser364Pro)
17g.43094318A>TCA10599625BRCA1c.1213T>A (p.Ser405Thr)
c.1072T>A (p.Ser358Thr)
c.787+426T>A (p.=)
n.1349T>A
n.1390T>A
c.670+1528T>A (p.=)
n.564T>A
c.*996T>A (p.=)
n.810T>A
c.1135T>A (p.Ser379Thr)
c.784+426T>A (p.=)
n.409+426T>A (p.=)
n.412+426T>A (p.=)
c.*1149T>A (p.=)
c.646+426T>A (p.=)
c.325T>A (p.Ser109Thr)
c.5-30367T>A (p.=)
c.-43-19797T>A (p.=)
c.-99+30953T>A (p.=)
c.1090T>A (p.Ser364Thr)
17g.43094319T>ACA10599626BRCA1c.1212A>T (p.Glu404Asp)
c.1071A>T (p.Glu357Asp)
c.787+425A>T (p.=)
n.1348A>T
n.1389A>T
c.670+1527A>T (p.=)
n.563A>T
c.*995A>T (p.=)
n.809A>T
c.1134A>T (p.Glu378Asp)
c.784+425A>T (p.=)
n.409+425A>T (p.=)
n.412+425A>T (p.=)
c.*1148A>T (p.=)
c.646+425A>T (p.=)
c.324A>T (p.Glu108Asp)
c.5-30368A>T (p.=)
c.-43-19798A>T (p.=)
c.-99+30952A>T (p.=)
c.1089A>T (p.Glu363Asp)
17g.43094319T>CCA16607635BRCA1c.1212A>G (p.Glu404=)
c.1071A>G (p.Glu357=)
c.787+425A>G (p.=)
n.1348A>G
n.1389A>G
c.670+1527A>G (p.=)
n.563A>G
c.*995A>G (p.=)
n.809A>G
c.1134A>G (p.Glu378=)
c.784+425A>G (p.=)
n.409+425A>G (p.=)
n.412+425A>G (p.=)
c.*1148A>G (p.=)
c.646+425A>G (p.=)
c.324A>G (p.Glu108=)
c.5-30368A>G (p.=)
c.-43-19798A>G (p.=)
c.-99+30952A>G (p.=)
c.1089A>G (p.Glu363=)
ClinVar
17g.43094319T>GCA10599627BRCA1c.1212A>C (p.Glu404Asp)
c.1071A>C (p.Glu357Asp)
c.787+425A>C (p.=)
n.1348A>C
n.1389A>C
c.670+1527A>C (p.=)
n.563A>C
c.*995A>C (p.=)
n.809A>C
c.1134A>C (p.Glu378Asp)
c.784+425A>C (p.=)
n.409+425A>C (p.=)
n.412+425A>C (p.=)
c.*1148A>C (p.=)
c.646+425A>C (p.=)
c.324A>C (p.Glu108Asp)
c.5-30368A>C (p.=)
c.-43-19798A>C (p.=)
c.-99+30952A>C (p.=)
c.1089A>C (p.Glu363Asp)
17g.43094319_43094320insAGCA658824534BRCA1c.1211_1212insCT (p.Glu404AspfsTer7)
c.1070_1071insCT (p.Glu357AspfsTer7)
c.787+424_787+425insCT (p.=)
n.1347_1348insCT
n.1388_1389insCT
c.670+1526_670+1527insCT (p.=)
n.562_563insCT
c.*994_*995insCT (p.=)
n.808_809insCT
c.1133_1134insCT (p.Glu378AspfsTer7)
c.784+424_784+425insCT (p.=)
n.409+424_409+425insCT (p.=)
n.412+424_412+425insCT (p.=)
c.*1147_*1148insCT (p.=)
c.646+424_646+425insCT (p.=)
c.323_324insCT (p.Glu108AspfsTer7)
c.5-30369_5-30368insCT (p.=)
c.-43-19799_-43-19798insCT (p.=)
c.-99+30951_-99+30952insCT (p.=)
c.1088_1089insCT (p.Glu363AspfsTer7)
ClinVar dbSNP
17g.43094320T>ACA10599628BRCA1c.1211A>T (p.Glu404Val)
c.1070A>T (p.Glu357Val)
c.787+424A>T (p.=)
n.1347A>T
n.1388A>T
c.670+1526A>T (p.=)
n.562A>T
c.*994A>T (p.=)
n.808A>T
c.1133A>T (p.Glu378Val)
c.784+424A>T (p.=)
n.409+424A>T (p.=)
n.412+424A>T (p.=)
c.*1147A>T (p.=)
c.646+424A>T (p.=)
c.323A>T (p.Glu108Val)
c.5-30369A>T (p.=)
c.-43-19799A>T (p.=)
c.-99+30951A>T (p.=)
c.1088A>T (p.Glu363Val)
17g.43094320T>CCA10599629BRCA1c.1211A>G (p.Glu404Gly)
c.1070A>G (p.Glu357Gly)
c.787+424A>G (p.=)
n.1347A>G
n.1388A>G
c.670+1526A>G (p.=)
n.562A>G
c.*994A>G (p.=)
n.808A>G
c.1133A>G (p.Glu378Gly)
c.784+424A>G (p.=)
n.409+424A>G (p.=)
n.412+424A>G (p.=)
c.*1147A>G (p.=)
c.646+424A>G (p.=)
c.323A>G (p.Glu108Gly)
c.5-30369A>G (p.=)
c.-43-19799A>G (p.=)
c.-99+30951A>G (p.=)
c.1088A>G (p.Glu363Gly)
17g.43094320T>GCA10599630BRCA1c.1211A>C (p.Glu404Ala)
c.1070A>C (p.Glu357Ala)
c.787+424A>C (p.=)
n.1347A>C
n.1388A>C
c.670+1526A>C (p.=)
n.562A>C
c.*994A>C (p.=)
n.808A>C
c.1133A>C (p.Glu378Ala)
c.784+424A>C (p.=)
n.409+424A>C (p.=)
n.412+424A>C (p.=)
c.*1147A>C (p.=)
c.646+424A>C (p.=)
c.323A>C (p.Glu108Ala)
c.5-30369A>C (p.=)
c.-43-19799A>C (p.=)
c.-99+30951A>C (p.=)
c.1088A>C (p.Glu363Ala)
17g.43094320_43094321insAGCA10589959BRCA1c.1210_1211insCT (p.Glu404AlafsTer7)
c.1069_1070insCT (p.Glu357AlafsTer7)
c.787+423_787+424insCT (p.=)
n.1346_1347insCT
n.1387_1388insCT
c.670+1525_670+1526insCT (p.=)
n.561_562insCT
c.*993_*994insCT (p.=)
n.807_808insCT
c.1132_1133insCT (p.Glu378AlafsTer7)
c.784+423_784+424insCT (p.=)
n.409+423_409+424insCT (p.=)
n.412+423_412+424insCT (p.=)
c.*1146_*1147insCT (p.=)
c.646+423_646+424insCT (p.=)
c.322_323insCT (p.Glu108AlafsTer7)
c.5-30370_5-30369insCT (p.=)
c.-43-19800_-43-19799insCT (p.=)
c.-99+30950_-99+30951insCT (p.=)
c.1087_1088insCT (p.Glu363AlafsTer7)
ClinVar dbSNP
17g.43094321C>ACA10599631BRCA1c.1210G>T (p.Glu404Ter)
c.1069G>T (p.Glu357Ter)
c.787+423G>T (p.=)
n.1346G>T
n.1387G>T
c.670+1525G>T (p.=)
n.561G>T
c.*993G>T (p.=)
n.807G>T
c.1132G>T (p.Glu378Ter)
c.784+423G>T (p.=)
n.409+423G>T (p.=)
n.412+423G>T (p.=)
c.*1146G>T (p.=)
c.646+423G>T (p.=)
c.322G>T (p.Glu108Ter)
c.5-30370G>T (p.=)
c.-43-19800G>T (p.=)
c.-99+30950G>T (p.=)
c.1087G>T (p.Glu363Ter)
17g.43094321C>GCA057098BRCA1c.1210G>C (p.Glu404Gln)
c.1069G>C (p.Glu357Gln)
c.787+423G>C (p.=)
n.1346G>C
n.1387G>C
c.670+1525G>C (p.=)
n.561G>C
c.*993G>C (p.=)
n.807G>C
c.1132G>C (p.Glu378Gln)
c.784+423G>C (p.=)
n.409+423G>C (p.=)
n.412+423G>C (p.=)
c.*1146G>C (p.=)
c.646+423G>C (p.=)
c.322G>C (p.Glu108Gln)
c.5-30370G>C (p.=)
c.-43-19800G>C (p.=)
c.-99+30950G>C (p.=)
c.1087G>C (p.Glu363Gln)
dbSNP ExAC
17g.43094321C>TCA10599632BRCA1c.1210G>A (p.Glu404Lys)
c.1069G>A (p.Glu357Lys)
c.787+423G>A (p.=)
n.1346G>A
n.1387G>A
c.670+1525G>A (p.=)
n.561G>A
c.*993G>A (p.=)
n.807G>A
c.1132G>A (p.Glu378Lys)
c.784+423G>A (p.=)
n.409+423G>A (p.=)
n.412+423G>A (p.=)
c.*1146G>A (p.=)
c.646+423G>A (p.=)
c.322G>A (p.Glu108Lys)
c.5-30370G>A (p.=)
c.-43-19800G>A (p.=)
c.-99+30950G>A (p.=)
c.1087G>A (p.Glu363Lys)
17g.43094321_43094322delCA10589960BRCA1c.1209_1210del (p.Glu404IlefsTer7)
c.1068_1069del (p.Glu357IlefsTer7)
c.787+422_787+423del (p.=)
n.1345_1346del
n.1386_1387del
c.670+1524_670+1525del (p.=)
n.560_561del
c.*992_*993del (p.=)
n.806_807del
c.1131_1132del (p.Glu378IlefsTer7)
c.784+422_784+423del (p.=)
n.409+422_409+423del (p.=)
n.412+422_412+423del (p.=)
c.*1145_*1146del (p.=)
c.646+422_646+423del (p.=)
c.321_322del (p.Glu108IlefsTer7)
c.5-30371_5-30370del (p.=)
c.-43-19801_-43-19800del (p.=)
c.-99+30949_-99+30950del (p.=)
c.1086_1087del (p.Glu363IlefsTer7)
ClinVar dbSNP
17g.43094322delCA913188896BRCA1c.1209del (p.Glu404AsnfsTer6)
c.1068del (p.Glu357AsnfsTer6)
c.787+422del (p.=)
n.1345del
n.1386del
c.670+1524del (p.=)
n.560del
c.*992del (p.=)
n.806del
c.1131del (p.Glu378AsnfsTer6)
c.784+422del (p.=)
n.409+422del (p.=)
n.412+422del (p.=)
c.*1145del (p.=)
c.646+422del (p.=)
c.321del (p.Glu108AsnfsTer6)
c.5-30371del (p.=)
c.-43-19801del (p.=)
c.-99+30949del (p.=)
c.1086del (p.Glu363AsnfsTer6)
ClinVar dbSNP
17g.43094322A>CCA500233565BRCA1c.1209T>G (p.Ser403=)
c.1068T>G (p.Ser356=)
c.787+422T>G (p.=)
n.1345T>G
n.1386T>G
c.670+1524T>G (p.=)
n.560T>G
c.*992T>G (p.=)
n.806T>G
c.1131T>G (p.Ser377=)
c.784+422T>G (p.=)
n.409+422T>G (p.=)
n.412+422T>G (p.=)
c.*1145T>G (p.=)
c.646+422T>G (p.=)
c.321T>G (p.Ser107=)
c.5-30371T>G (p.=)
c.-43-19801T>G (p.=)
c.-99+30949T>G (p.=)
c.1086T>G (p.Ser362=)
17g.43094322A>GCA057092BRCA1c.1209T>C (p.Ser403=)
c.1068T>C (p.Ser356=)
c.787+422T>C (p.=)
n.1345T>C
n.1386T>C
c.670+1524T>C (p.=)
n.560T>C
c.*992T>C (p.=)
n.806T>C
c.1131T>C (p.Ser377=)
c.784+422T>C (p.=)
n.409+422T>C (p.=)
n.412+422T>C (p.=)
c.*1145T>C (p.=)
c.646+422T>C (p.=)
c.321T>C (p.Ser107=)
c.5-30371T>C (p.=)
c.-43-19801T>C (p.=)
c.-99+30949T>C (p.=)
c.1086T>C (p.Ser362=)
ClinVar dbSNP ExAC gnomAD
17g.43094322A>TCA500233566BRCA1c.1209T>A (p.Ser403=)
c.1068T>A (p.Ser356=)
c.787+422T>A (p.=)
n.1345T>A
n.1386T>A
c.670+1524T>A (p.=)
n.560T>A
c.*992T>A (p.=)
n.806T>A
c.1131T>A (p.Ser377=)
c.784+422T>A (p.=)
n.409+422T>A (p.=)
n.412+422T>A (p.=)
c.*1145T>A (p.=)
c.646+422T>A (p.=)
c.321T>A (p.Ser107=)
c.5-30371T>A (p.=)
c.-43-19801T>A (p.=)
c.-99+30949T>A (p.=)
c.1086T>A (p.Ser362=)
17g.43094322dupCA10589961BRCA1c.1209dup (p.Glu404Ter)
c.1068dup (p.Glu357Ter)
c.787+422dup (p.=)
n.1345dup
n.1386dup
c.670+1524dup (p.=)
n.560dup
c.*992dup (p.=)
n.806dup
c.1131dup (p.Glu378Ter)
c.784+422dup (p.=)
n.409+422dup (p.=)
n.412+422dup (p.=)
c.*1145dup (p.=)
c.646+422dup (p.=)
c.321dup (p.Glu108Ter)
c.5-30371dup (p.=)
c.-43-19801dup (p.=)
c.-99+30949dup (p.=)
c.1086dup (p.Glu363Ter)
ClinVar dbSNP
17g.43094323_43094324dupCA658761287BRCA1c.1208_1209dup (p.Glu404LeufsTer7)
c.1067_1068dup (p.Glu357LeufsTer7)
c.787+421_787+422dup (p.=)
n.1344_1345dup
n.1385_1386dup
c.670+1523_670+1524dup (p.=)
n.559_560dup
c.*991_*992dup (p.=)
n.805_806dup
c.1130_1131dup (p.Glu378LeufsTer7)
c.784+421_784+422dup (p.=)
n.409+421_409+422dup (p.=)
n.412+421_412+422dup (p.=)
c.*1144_*1145dup (p.=)
c.646+421_646+422dup (p.=)
c.320_321dup (p.Glu108LeufsTer7)
c.5-30372_5-30371dup (p.=)
c.-43-19802_-43-19801dup (p.=)
c.-99+30948_-99+30949dup (p.=)
c.1085_1086dup (p.Glu363LeufsTer7)
17g.43094323G>ACA000795BRCA1c.1208C>T (p.Ser403Phe)
c.1067C>T (p.Ser356Phe)
c.787+421C>T (p.=)
n.1344C>T
n.1385C>T
c.670+1523C>T (p.=)
n.559C>T
c.*991C>T (p.=)
n.805C>T
c.1130C>T (p.Ser377Phe)
c.784+421C>T (p.=)
n.409+421C>T (p.=)
n.412+421C>T (p.=)
c.*1144C>T (p.=)
c.646+421C>T (p.=)
c.320C>T (p.Ser107Phe)
c.5-30372C>T (p.=)
c.-43-19802C>T (p.=)
c.-99+30948C>T (p.=)
c.1085C>T (p.Ser362Phe)
ClinVar dbSNP
17g.43094323G>CCA10599633BRCA1c.1208C>G (p.Ser403Cys)
c.1067C>G (p.Ser356Cys)
c.787+421C>G (p.=)
n.1344C>G
n.1385C>G
c.670+1523C>G (p.=)
n.559C>G
c.*991C>G (p.=)
n.805C>G
c.1130C>G (p.Ser377Cys)
c.784+421C>G (p.=)
n.409+421C>G (p.=)
n.412+421C>G (p.=)
c.*1144C>G (p.=)
c.646+421C>G (p.=)
c.320C>G (p.Ser107Cys)
c.5-30372C>G (p.=)
c.-43-19802C>G (p.=)
c.-99+30948C>G (p.=)
c.1085C>G (p.Ser362Cys)
17g.43094323G>TCA10599634BRCA1c.1208C>A (p.Ser403Tyr)
c.1067C>A (p.Ser356Tyr)
c.787+421C>A (p.=)
n.1344C>A
n.1385C>A
c.670+1523C>A (p.=)
n.559C>A
c.*991C>A (p.=)
n.805C>A
c.1130C>A (p.Ser377Tyr)
c.784+421C>A (p.=)
n.409+421C>A (p.=)
n.412+421C>A (p.=)
c.*1144C>A (p.=)
c.646+421C>A (p.=)
c.320C>A (p.Ser107Tyr)
c.5-30372C>A (p.=)
c.-43-19802C>A (p.=)
c.-99+30948C>A (p.=)
c.1085C>A (p.Ser362Tyr)
17g.43094324A>CCA10599635BRCA1c.1207T>G (p.Ser403Ala)
c.1066T>G (p.Ser356Ala)
c.787+420T>G (p.=)
n.1343T>G
n.1384T>G
c.670+1522T>G (p.=)
n.558T>G
c.*990T>G (p.=)
n.804T>G
c.1129T>G (p.Ser377Ala)
c.784+420T>G (p.=)
n.409+420T>G (p.=)
n.412+420T>G (p.=)
c.*1143T>G (p.=)
c.646+420T>G (p.=)
c.319T>G (p.Ser107Ala)
c.5-30373T>G (p.=)
c.-43-19803T>G (p.=)
c.-99+30947T>G (p.=)
c.1084T>G (p.Ser362Ala)
ClinVar
17g.43094324A>GCA10599636BRCA1c.1207T>C (p.Ser403Pro)
c.1066T>C (p.Ser356Pro)
c.787+420T>C (p.=)
n.1343T>C
n.1384T>C
c.670+1522T>C (p.=)
n.558T>C
c.*990T>C (p.=)
n.804T>C
c.1129T>C (p.Ser377Pro)
c.784+420T>C (p.=)
n.409+420T>C (p.=)
n.412+420T>C (p.=)
c.*1143T>C (p.=)
c.646+420T>C (p.=)
c.319T>C (p.Ser107Pro)
c.5-30373T>C (p.=)
c.-43-19803T>C (p.=)
c.-99+30947T>C (p.=)
c.1084T>C (p.Ser362Pro)
ClinVar
17g.43094324A>TCA10599637BRCA1c.1207T>A (p.Ser403Thr)
c.1066T>A (p.Ser356Thr)
c.787+420T>A (p.=)
n.1343T>A
n.1384T>A
c.670+1522T>A (p.=)
n.558T>A
c.*990T>A (p.=)
n.804T>A
c.1129T>A (p.Ser377Thr)
c.784+420T>A (p.=)
n.409+420T>A (p.=)
n.412+420T>A (p.=)
c.*1143T>A (p.=)
c.646+420T>A (p.=)
c.319T>A (p.Ser107Thr)
c.5-30373T>A (p.=)
c.-43-19803T>A (p.=)
c.-99+30947T>A (p.=)
c.1084T>A (p.Ser362Thr)
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.43094325C>ACA10599638BRCA1c.1206G>T (p.Glu402Asp)
c.1065G>T (p.Glu355Asp)
c.787+419G>T (p.=)
n.1342G>T
n.1383G>T
c.670+1521G>T (p.=)
n.557G>T
c.*989G>T (p.=)
n.803G>T
c.1128G>T (p.Glu376Asp)
c.784+419G>T (p.=)
n.409+419G>T (p.=)
n.412+419G>T (p.=)
c.*1142G>T (p.=)
c.646+419G>T (p.=)
c.318G>T (p.Glu106Asp)
c.5-30374G>T (p.=)
c.-43-19804G>T (p.=)
c.-99+30946G>T (p.=)
c.1083G>T (p.Glu361Asp)
gnomAD
17g.43094325C>GCA10599639BRCA1c.1206G>C (p.Glu402Asp)
c.1065G>C (p.Glu355Asp)
c.787+419G>C (p.=)
n.1342G>C
n.1383G>C
c.670+1521G>C (p.=)
n.557G>C
c.*989G>C (p.=)
n.803G>C
c.1128G>C (p.Glu376Asp)
c.784+419G>C (p.=)
n.409+419G>C (p.=)
n.412+419G>C (p.=)
c.*1142G>C (p.=)
c.646+419G>C (p.=)
c.318G>C (p.Glu106Asp)
c.5-30374G>C (p.=)
c.-43-19804G>C (p.=)
c.-99+30946G>C (p.=)
c.1083G>C (p.Glu361Asp)
17g.43094325C>TCA500233570BRCA1c.1206G>A (p.Glu402=)
c.1065G>A (p.Glu355=)
c.787+419G>A (p.=)
n.1342G>A
n.1383G>A
c.670+1521G>A (p.=)
n.557G>A
c.*989G>A (p.=)
n.803G>A
c.1128G>A (p.Glu376=)
c.784+419G>A (p.=)
n.409+419G>A (p.=)
n.412+419G>A (p.=)
c.*1142G>A (p.=)
c.646+419G>A (p.=)
c.318G>A (p.Glu106=)
c.5-30374G>A (p.=)
c.-43-19804G>A (p.=)
c.-99+30946G>A (p.=)
c.1083G>A (p.Glu361=)
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

Number of alleles fetched