Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435632G>ACA381701684DHCR7c.1171C>T (p.His391Tyr)
c.997C>T (p.His333Tyr)
c.1222C>T (p.His408Tyr)
c.1207C>T (p.His403Tyr)
c.1179C>T (p.Thr393=)
n.1211C>T
c.586C>T (p.His196Tyr)
c.1075C>T (p.His359Tyr)
c.672C>T (p.Thr224=)
c.421C>T (p.His141Tyr)
c.319+2180C>T
c.1305C>T (p.Thr435=)
11g.71435632G>CCA381701687DHCR7c.1171C>G (p.His391Asp)
c.997C>G (p.His333Asp)
c.1222C>G (p.His408Asp)
c.1207C>G (p.His403Asp)
c.1179C>G (p.Thr393=)
n.1211C>G
c.586C>G (p.His196Asp)
c.1075C>G (p.His359Asp)
c.672C>G (p.Thr224=)
c.421C>G (p.His141Asp)
c.319+2180C>G
c.1305C>G (p.Thr435=)
11g.71435632G>TCA381701688DHCR7c.1171C>A (p.His391Asn)
c.997C>A (p.His333Asn)
c.1222C>A (p.His408Asn)
c.1207C>A (p.His403Asn)
c.1179C>A (p.Thr393=)
n.1211C>A
c.586C>A (p.His196Asn)
c.1075C>A (p.His359Asn)
c.672C>A (p.Thr224=)
c.421C>A (p.His141Asn)
c.319+2180C>A
c.1305C>A (p.Thr435=)
 gnomAD v4
11g.71435633G>ACA381701694DHCR7c.1170C>T (p.His390=)
c.996C>T (p.His332=)
c.1221C>T (p.His407=)
c.1206C>T (p.His402=)
c.1178C>T (p.Thr393Ile)
n.1210C>T
c.585C>T (p.His195=)
c.1074C>T (p.His358=)
c.671C>T (p.Thr224Ile)
c.420C>T (p.His140=)
c.319+2179C>T
c.1304C>T (p.Thr435Ile)
 ClinVar dbSNP
11g.71435633G>CCA381701691DHCR7c.1170C>G (p.His390Gln)
c.996C>G (p.His332Gln)
c.1221C>G (p.His407Gln)
c.1206C>G (p.His402Gln)
c.1178C>G (p.Thr393Ser)
n.1210C>G
c.585C>G (p.His195Gln)
c.1074C>G (p.His358Gln)
c.671C>G (p.Thr224Ser)
c.420C>G (p.His140Gln)
c.319+2179C>G
c.1304C>G (p.Thr435Ser)
11g.71435633G>TCA381701693DHCR7c.1170C>A (p.His390Gln)
c.996C>A (p.His332Gln)
c.1221C>A (p.His407Gln)
c.1206C>A (p.His402Gln)
c.1178C>A (p.Thr393Asn)
n.1210C>A
c.585C>A (p.His195Gln)
c.1074C>A (p.His358Gln)
c.671C>A (p.Thr224Asn)
c.420C>A (p.His140Gln)
c.319+2179C>A
c.1304C>A (p.Thr435Asn)
11g.71435634T>ACA381701697DHCR7c.1169A>T (p.His390Leu)
c.995A>T (p.His332Leu)
c.1220A>T (p.His407Leu)
c.1205A>T (p.His402Leu)
c.1177A>T (p.Thr393Ser)
n.1209A>T
c.584A>T (p.His195Leu)
c.1073A>T (p.His358Leu)
c.670A>T (p.Thr224Ser)
c.419A>T (p.His140Leu)
c.319+2178A>T
c.1303A>T (p.Thr435Ser)
11g.71435634T>CCA6162293DHCR7c.1169A>G (p.His390Arg)
c.995A>G (p.His332Arg)
c.1220A>G (p.His407Arg)
c.1205A>G (p.His402Arg)
c.1177A>G (p.Thr393Ala)
n.1209A>G
c.584A>G (p.His195Arg)
c.1073A>G (p.His358Arg)
c.670A>G (p.Thr224Ala)
c.419A>G (p.His140Arg)
c.319+2178A>G
c.1303A>G (p.Thr435Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435634T>GCA381701700DHCR7c.1169A>C (p.His390Pro)
c.995A>C (p.His332Pro)
c.1220A>C (p.His407Pro)
c.1205A>C (p.His402Pro)
c.1177A>C (p.Thr393Pro)
n.1209A>C
c.584A>C (p.His195Pro)
c.1073A>C (p.His358Pro)
c.670A>C (p.Thr224Pro)
c.419A>C (p.His140Pro)
c.319+2178A>C
c.1303A>C (p.Thr435Pro)
11g.71435634T=CA1981486926DHCR7c.1169A= (p.His390=)
c.995A= (p.His332=)
c.1220A= (p.His407=)
c.1205A= (p.His402=)
c.1177A= (p.Thr393=)
n.1209A=
c.584A= (p.His195=)
c.1073A= (p.His358=)
c.670A= (p.Thr224=)
c.419A= (p.His140=)
c.319+2178A=
c.1303A= (p.Thr435=)
11g.71435635G>ACA6162294DHCR7c.1168C>T (p.His390Tyr)
c.994C>T (p.His332Tyr)
c.1219C>T (p.His407Tyr)
c.1204C>T (p.His402Tyr)
c.1176C>T (p.Gly392=)
n.1208C>T
c.583C>T (p.His195Tyr)
c.1072C>T (p.His358Tyr)
c.669C>T (p.Gly223=)
c.418C>T (p.His140Tyr)
c.319+2177C>T
c.1302C>T (p.Gly434=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435635G>CCA381701703DHCR7c.1168C>G (p.His390Asp)
c.994C>G (p.His332Asp)
c.1219C>G (p.His407Asp)
c.1204C>G (p.His402Asp)
c.1176C>G (p.Gly392=)
n.1208C>G
c.583C>G (p.His195Asp)
c.1072C>G (p.His358Asp)
c.669C>G (p.Gly223=)
c.418C>G (p.His140Asp)
c.319+2177C>G
c.1302C>G (p.Gly434=)
11g.71435635G=CA1981486927DHCR7c.1168C= (p.His390=)
c.994C= (p.His332=)
c.1219C= (p.His407=)
c.1204C= (p.His402=)
c.1176C= (p.Gly392=)
n.1208C=
c.583C= (p.His195=)
c.1072C= (p.His358=)
c.669C= (p.Gly223=)
c.418C= (p.His140=)
c.319+2177C=
c.1302C= (p.Gly434=)
11g.71435635G>TCA381701705DHCR7c.1168C>A (p.His390Asn)
c.994C>A (p.His332Asn)
c.1219C>A (p.His407Asn)
c.1204C>A (p.His402Asn)
c.1176C>A (p.Gly392=)
n.1208C>A
c.583C>A (p.His195Asn)
c.1072C>A (p.His358Asn)
c.669C>A (p.Gly223=)
c.418C>A (p.His140Asn)
c.319+2177C>A
c.1302C>A (p.Gly434=)
 gnomAD v4
11g.71435636C>ACA381701707DHCR7c.1167G>T (p.Arg389Ser)
c.993G>T (p.Arg331Ser)
c.1218G>T (p.Arg406Ser)
c.1203G>T (p.Arg401Ser)
c.1175G>T (p.Gly392Val)
n.1207G>T
c.582G>T (p.Arg194Ser)
c.1071G>T (p.Arg357Ser)
c.668G>T (p.Gly223Val)
c.417G>T (p.Arg139Ser)
c.319+2176G>T
c.1301G>T (p.Gly434Val)
11g.71435636C=CA1981486928DHCR7c.1167G= (p.Arg389=)
c.993G= (p.Arg331=)
c.1218G= (p.Arg406=)
c.1203G= (p.Arg401=)
c.1175G= (p.Gly392=)
n.1207G=
c.582G= (p.Arg194=)
c.1071G= (p.Arg357=)
c.668G= (p.Gly223=)
c.417G= (p.Arg139=)
c.319+2176G=
c.1301G= (p.Gly434=)
11g.71435636C>GCA381701709DHCR7c.1167G>C (p.Arg389Ser)
c.993G>C (p.Arg331Ser)
c.1218G>C (p.Arg406Ser)
c.1203G>C (p.Arg401Ser)
c.1175G>C (p.Gly392Ala)
n.1207G>C
c.582G>C (p.Arg194Ser)
c.1071G>C (p.Arg357Ser)
c.668G>C (p.Gly223Ala)
c.417G>C (p.Arg139Ser)
c.319+2176G>C
c.1301G>C (p.Gly434Ala)
11g.71435636C>TCA381701711DHCR7c.1167G>A (p.Arg389=)
c.993G>A (p.Arg331=)
c.1218G>A (p.Arg406=)
c.1203G>A (p.Arg401=)
c.1175G>A (p.Gly392Asp)
n.1207G>A
c.582G>A (p.Arg194=)
c.1071G>A (p.Arg357=)
c.668G>A (p.Gly223Asp)
c.417G>A (p.Arg139=)
c.319+2176G>A
c.1301G>A (p.Gly434Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435637C>ACA381701713DHCR7c.1166G>T (p.Arg389Met)
c.992G>T (p.Arg331Met)
c.1217G>T (p.Arg406Met)
c.1202G>T (p.Arg401Met)
c.1174G>T (p.Gly392Cys)
n.1206G>T
c.581G>T (p.Arg194Met)
c.1070G>T (p.Arg357Met)
c.667G>T (p.Gly223Cys)
c.416G>T (p.Arg139Met)
c.319+2175G>T
c.1300G>T (p.Gly434Cys)
11g.71435637C=CA1981486929DHCR7c.1166G= (p.Arg389=)
c.992G= (p.Arg331=)
c.1217G= (p.Arg406=)
c.1202G= (p.Arg401=)
c.1174G= (p.Gly392=)
n.1206G=
c.581G= (p.Arg194=)
c.1070G= (p.Arg357=)
c.667G= (p.Gly223=)
c.416G= (p.Arg139=)
c.319+2175G=
c.1300G= (p.Gly434=)
11g.71435637C>GCA381701715DHCR7c.1166G>C (p.Arg389Thr)
c.992G>C (p.Arg331Thr)
c.1217G>C (p.Arg406Thr)
c.1202G>C (p.Arg401Thr)
c.1174G>C (p.Gly392Arg)
n.1206G>C
c.581G>C (p.Arg194Thr)
c.1070G>C (p.Arg357Thr)
c.667G>C (p.Gly223Arg)
c.416G>C (p.Arg139Thr)
c.319+2175G>C
c.1300G>C (p.Gly434Arg)
11g.71435637C>TCA6162295DHCR7c.1166G>A (p.Arg389Lys)
c.992G>A (p.Arg331Lys)
c.1217G>A (p.Arg406Lys)
c.1202G>A (p.Arg401Lys)
c.1174G>A (p.Gly392Ser)
n.1206G>A
c.581G>A (p.Arg194Lys)
c.1070G>A (p.Arg357Lys)
c.667G>A (p.Gly223Ser)
c.416G>A (p.Arg139Lys)
c.319+2175G>A
c.1300G>A (p.Gly434Ser)
 dbSNP ExAC
11g.71435638T>ACA381701719DHCR7c.1165A>T (p.Arg389Trp)
c.991A>T (p.Arg331Trp)
c.1216A>T (p.Arg406Trp)
c.1201A>T (p.Arg401Trp)
c.1173A>T (p.Arg391Ser)
n.1205A>T
c.580A>T (p.Arg194Trp)
c.1069A>T (p.Arg357Trp)
c.666A>T (p.Arg222Ser)
c.415A>T (p.Arg139Trp)
c.319+2174A>T
c.1299A>T (p.Arg433Ser)
11g.71435638T>CCA381701722DHCR7c.1165A>G (p.Arg389Gly)
c.991A>G (p.Arg331Gly)
c.1216A>G (p.Arg406Gly)
c.1201A>G (p.Arg401Gly)
c.1173A>G (p.Arg391=)
n.1205A>G
c.580A>G (p.Arg194Gly)
c.1069A>G (p.Arg357Gly)
c.666A>G (p.Arg222=)
c.415A>G (p.Arg139Gly)
c.319+2174A>G
c.1299A>G (p.Arg433=)
11g.71435638T>GCA381701717DHCR7c.1165A>C (p.Arg389=)
c.991A>C (p.Arg331=)
c.1216A>C (p.Arg406=)
c.1201A>C (p.Arg401=)
c.1173A>C (p.Arg391Ser)
n.1205A>C
c.580A>C (p.Arg194=)
c.1069A>C (p.Arg357=)
c.666A>C (p.Arg222Ser)
c.415A>C (p.Arg139=)
c.319+2174A>C
c.1299A>C (p.Arg433Ser)
 dbSNP
11g.71435638T=CA1981486930DHCR7c.1165A= (p.Arg389=)
c.991A= (p.Arg331=)
c.1216A= (p.Arg406=)
c.1201A= (p.Arg401=)
c.1173A= (p.Arg391=)
n.1205A=
c.580A= (p.Arg194=)
c.1069A= (p.Arg357=)
c.666A= (p.Arg222=)
c.415A= (p.Arg139=)
c.319+2174A=
c.1299A= (p.Arg433=)
11g.71435639C>ACA381701724DHCR7c.1164G>T (p.Gln388His)
c.990G>T (p.Gln330His)
c.1215G>T (p.Gln405His)
c.1200G>T (p.Gln400His)
c.1172G>T (p.Arg391Ile)
n.1204G>T
c.579G>T (p.Gln193His)
c.1068G>T (p.Gln356His)
c.665G>T (p.Arg222Ile)
c.414G>T (p.Gln138His)
c.319+2173G>T
c.1298G>T (p.Arg433Ile)
 gnomAD v4
11g.71435639C>GCA381701725DHCR7c.1164G>C (p.Gln388His)
c.990G>C (p.Gln330His)
c.1215G>C (p.Gln405His)
c.1200G>C (p.Gln400His)
c.1172G>C (p.Arg391Thr)
n.1204G>C
c.579G>C (p.Gln193His)
c.1068G>C (p.Gln356His)
c.665G>C (p.Arg222Thr)
c.414G>C (p.Gln138His)
c.319+2173G>C
c.1298G>C (p.Arg433Thr)
11g.71435639C>TCA381701727DHCR7c.1164G>A (p.Gln388=)
c.990G>A (p.Gln330=)
c.1215G>A (p.Gln405=)
c.1200G>A (p.Gln400=)
c.1172G>A (p.Arg391Lys)
n.1204G>A
c.579G>A (p.Gln193=)
c.1068G>A (p.Gln356=)
c.665G>A (p.Arg222Lys)
c.414G>A (p.Gln138=)
c.319+2173G>A
c.1298G>A (p.Arg433Lys)
 gnomAD v4
11g.71435640T>ACA381701729DHCR7c.1163A>T (p.Gln388Leu)
c.989A>T (p.Gln330Leu)
c.1214A>T (p.Gln405Leu)
c.1199A>T (p.Gln400Leu)
c.1171A>T (p.Arg391Ter)
n.1203A>T
c.578A>T (p.Gln193Leu)
c.1067A>T (p.Gln356Leu)
c.664A>T (p.Arg222Ter)
c.413A>T (p.Gln138Leu)
c.319+2172A>T
c.1297A>T (p.Arg433Ter)
11g.71435640T>CCA381701731DHCR7c.1163A>G (p.Gln388Arg)
c.989A>G (p.Gln330Arg)
c.1214A>G (p.Gln405Arg)
c.1199A>G (p.Gln400Arg)
c.1171A>G (p.Arg391Gly)
n.1203A>G
c.578A>G (p.Gln193Arg)
c.1067A>G (p.Gln356Arg)
c.664A>G (p.Arg222Gly)
c.413A>G (p.Gln138Arg)
c.319+2172A>G
c.1297A>G (p.Arg433Gly)
11g.71435640T>GCA381701733DHCR7c.1163A>C (p.Gln388Pro)
c.989A>C (p.Gln330Pro)
c.1214A>C (p.Gln405Pro)
c.1199A>C (p.Gln400Pro)
c.1171A>C (p.Arg391=)
n.1203A>C
c.578A>C (p.Gln193Pro)
c.1067A>C (p.Gln356Pro)
c.664A>C (p.Arg222=)
c.413A>C (p.Gln138Pro)
c.319+2172A>C
c.1297A>C (p.Arg433=)
11g.71435641G>ACA381701735DHCR7c.1162C>T (p.Gln388Ter)
c.988C>T (p.Gln330Ter)
c.1213C>T (p.Gln405Ter)
c.1198C>T (p.Gln400Ter)
c.1170C>T (p.Gly390=)
n.1202C>T
c.577C>T (p.Gln193Ter)
c.1066C>T (p.Gln356Ter)
c.663C>T (p.Gly221=)
c.412C>T (p.Gln138Ter)
c.319+2171C>T
c.1296C>T (p.Gly432=)
11g.71435641G>CCA381701737DHCR7c.1162C>G (p.Gln388Glu)
c.988C>G (p.Gln330Glu)
c.1213C>G (p.Gln405Glu)
c.1198C>G (p.Gln400Glu)
c.1170C>G (p.Gly390=)
n.1202C>G
c.577C>G (p.Gln193Glu)
c.1066C>G (p.Gln356Glu)
c.663C>G (p.Gly221=)
c.412C>G (p.Gln138Glu)
c.319+2171C>G
c.1296C>G (p.Gly432=)
11g.71435641G>TCA381701739DHCR7c.1162C>A (p.Gln388Lys)
c.988C>A (p.Gln330Lys)
c.1213C>A (p.Gln405Lys)
c.1198C>A (p.Gln400Lys)
c.1170C>A (p.Gly390=)
n.1202C>A
c.577C>A (p.Gln193Lys)
c.1066C>A (p.Gln356Lys)
c.663C>A (p.Gly221=)
c.412C>A (p.Gln138Lys)
c.319+2171C>A
c.1296C>A (p.Gly432=)
 gnomAD v4
11g.71435642C>ACA381701741DHCR7c.1161G>T (p.Gly387=)
c.987G>T (p.Gly329=)
c.1212G>T (p.Gly404=)
c.1197G>T (p.Gly399=)
c.1169G>T (p.Gly390Val)
n.1201G>T
c.576G>T (p.Gly192=)
c.1065G>T (p.Gly355=)
c.662G>T (p.Gly221Val)
c.411G>T (p.Gly137=)
c.319+2170G>T
c.1295G>T (p.Gly432Val)
 ClinVar dbSNP
11g.71435642C=CA1981486931DHCR7c.1161G= (p.Gly387=)
c.987G= (p.Gly329=)
c.1212G= (p.Gly404=)
c.1197G= (p.Gly399=)
c.1169G= (p.Gly390=)
n.1201G=
c.576G= (p.Gly192=)
c.1065G= (p.Gly355=)
c.662G= (p.Gly221=)
c.411G= (p.Gly137=)
c.319+2170G=
c.1295G= (p.Gly432=)
11g.71435642C>GCA381701743DHCR7c.1161G>C (p.Gly387=)
c.987G>C (p.Gly329=)
c.1212G>C (p.Gly404=)
c.1197G>C (p.Gly399=)
c.1169G>C (p.Gly390Ala)
n.1201G>C
c.576G>C (p.Gly192=)
c.1065G>C (p.Gly355=)
c.662G>C (p.Gly221Ala)
c.411G>C (p.Gly137=)
c.319+2170G>C
c.1295G>C (p.Gly432Ala)
 dbSNP gnomAD v2 gnomAD v4
11g.71435642C>TCA381701745DHCR7c.1161G>A (p.Gly387=)
c.987G>A (p.Gly329=)
c.1212G>A (p.Gly404=)
c.1197G>A (p.Gly399=)
c.1169G>A (p.Gly390Asp)
n.1201G>A
c.576G>A (p.Gly192=)
c.1065G>A (p.Gly355=)
c.662G>A (p.Gly221Asp)
c.411G>A (p.Gly137=)
c.319+2170G>A
c.1295G>A (p.Gly432Asp)
 ClinVar
11g.71435643C>ACA381701749DHCR7c.1160G>T (p.Gly387Val)
c.986G>T (p.Gly329Val)
c.1211G>T (p.Gly404Val)
c.1196G>T (p.Gly399Val)
c.1168G>T (p.Gly390Cys)
n.1200G>T
c.575G>T (p.Gly192Val)
c.1064G>T (p.Gly355Val)
c.661G>T (p.Gly221Cys)
c.410G>T (p.Gly137Val)
c.319+2169G>T
c.1294G>T (p.Gly432Cys)
11g.71435643C>GCA381701750DHCR7c.1160G>C (p.Gly387Ala)
c.986G>C (p.Gly329Ala)
c.1211G>C (p.Gly404Ala)
c.1196G>C (p.Gly399Ala)
c.1168G>C (p.Gly390Arg)
n.1200G>C
c.575G>C (p.Gly192Ala)
c.1064G>C (p.Gly355Ala)
c.661G>C (p.Gly221Arg)
c.410G>C (p.Gly137Ala)
c.319+2169G>C
c.1294G>C (p.Gly432Arg)
11g.71435643C>TCA381701747DHCR7c.1160G>A (p.Gly387Glu)
c.986G>A (p.Gly329Glu)
c.1211G>A (p.Gly404Glu)
c.1196G>A (p.Gly399Glu)
c.1168G>A (p.Gly390Ser)
n.1200G>A
c.575G>A (p.Gly192Glu)
c.1064G>A (p.Gly355Glu)
c.661G>A (p.Gly221Ser)
c.410G>A (p.Gly137Glu)
c.319+2169G>A
c.1294G>A (p.Gly432Ser)
11g.71435644C>ACA381701752DHCR7c.1159G>T (p.Gly387Trp)
c.985G>T (p.Gly329Trp)
c.1210G>T (p.Gly404Trp)
c.1195G>T (p.Gly399Trp)
c.1167G>T (p.Met389Ile)
n.1199G>T
c.574G>T (p.Gly192Trp)
c.1063G>T (p.Gly355Trp)
c.660G>T (p.Met220Ile)
c.409G>T (p.Gly137Trp)
c.319+2168G>T
c.1293G>T (p.Met431Ile)
11g.71435644C=CA1981486932DHCR7c.1159G= (p.Gly387=)
c.985G= (p.Gly329=)
c.1210G= (p.Gly404=)
c.1195G= (p.Gly399=)
c.1167G= (p.Met389=)
n.1199G=
c.574G= (p.Gly192=)
c.1063G= (p.Gly355=)
c.660G= (p.Met220=)
c.409G= (p.Gly137=)
c.319+2168G=
c.1293G= (p.Met431=)
11g.71435644C>GCA381701754DHCR7c.1159G>C (p.Gly387Arg)
c.985G>C (p.Gly329Arg)
c.1210G>C (p.Gly404Arg)
c.1195G>C (p.Gly399Arg)
c.1167G>C (p.Met389Ile)
n.1199G>C
c.574G>C (p.Gly192Arg)
c.1063G>C (p.Gly355Arg)
c.660G>C (p.Met220Ile)
c.409G>C (p.Gly137Arg)
c.319+2168G>C
c.1293G>C (p.Met431Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.71435644C>TCA6162296DHCR7c.1159G>A (p.Gly387Arg)
c.985G>A (p.Gly329Arg)
c.1210G>A (p.Gly404Arg)
c.1195G>A (p.Gly399Arg)
c.1167G>A (p.Met389Ile)
n.1199G>A
c.574G>A (p.Gly192Arg)
c.1063G>A (p.Gly355Arg)
c.660G>A (p.Met220Ile)
c.409G>A (p.Gly137Arg)
c.319+2168G>A
c.1293G>A (p.Met431Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435645A=CA1981486933DHCR7c.1158T= (p.Asp386=)
c.984T= (p.Asp328=)
c.1209T= (p.Asp403=)
c.1194T= (p.Asp398=)
c.1166T= (p.Met389=)
n.1198T=
c.573T= (p.Asp191=)
c.1062T= (p.Asp354=)
c.659T= (p.Met220=)
c.408T= (p.Asp136=)
c.319+2167T=
c.1292T= (p.Met431=)
11g.71435645A>CCA381701757DHCR7c.1158T>G (p.Asp386Glu)
c.984T>G (p.Asp328Glu)
c.1209T>G (p.Asp403Glu)
c.1194T>G (p.Asp398Glu)
c.1166T>G (p.Met389Arg)
n.1198T>G
c.573T>G (p.Asp191Glu)
c.1062T>G (p.Asp354Glu)
c.659T>G (p.Met220Arg)
c.408T>G (p.Asp136Glu)
c.319+2167T>G
c.1292T>G (p.Met431Arg)
 dbSNP
11g.71435645A>GCA147230DHCR7c.1158T>C (p.Asp386=)
c.984T>C (p.Asp328=)
c.1209T>C (p.Asp403=)
c.1194T>C (p.Asp398=)
c.1166T>C (p.Met389Thr)
n.1198T>C
c.573T>C (p.Asp191=)
c.1062T>C (p.Asp354=)
c.659T>C (p.Met220Thr)
c.408T>C (p.Asp136=)
c.319+2167T>C
c.1292T>C (p.Met431Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435645A>TCA224324303DHCR7c.1158T>A (p.Asp386Glu)
c.984T>A (p.Asp328Glu)
c.1209T>A (p.Asp403Glu)
c.1194T>A (p.Asp398Glu)
c.1166T>A (p.Met389Lys)
n.1198T>A
c.573T>A (p.Asp191Glu)
c.1062T>A (p.Asp354Glu)
c.659T>A (p.Met220Lys)
c.408T>A (p.Asp136Glu)
c.319+2167T>A
c.1292T>A (p.Met431Lys)
 dbSNP
11g.71435645_71435647delinsGTTCA2580084831DHCR7c.1156_1158delinsAAC (p.Asp386Asn)
c.982_984delinsAAC (p.Asp328Asn)
c.1207_1209delinsAAC (p.Asp403Asn)
c.1192_1194delinsAAC (p.Asp398Asn)
c.1164_1166delinsAAC (p.Met389Thr)
n.1196_1198delinsAAC
c.571_573delinsAAC (p.Asp191Asn)
c.1060_1062delinsAAC (p.Asp354Asn)
c.657_659delinsAAC (p.Met220Thr)
c.406_408delinsAAC (p.Asp136Asn)
c.319+2165_319+2167delinsAAC
c.1290_1292delinsAAC (p.Met431Thr)
 ClinVar
11g.71435646T>ACA381701764DHCR7c.1157A>T (p.Asp386Val)
c.983A>T (p.Asp328Val)
c.1208A>T (p.Asp403Val)
c.1193A>T (p.Asp398Val)
c.1165A>T (p.Met389Leu)
n.1197A>T
c.572A>T (p.Asp191Val)
c.1061A>T (p.Asp354Val)
c.658A>T (p.Met220Leu)
c.407A>T (p.Asp136Val)
c.319+2166A>T
c.1291A>T (p.Met431Leu)
11g.71435646T>CCA381701760DHCR7c.1157A>G (p.Asp386Gly)
c.983A>G (p.Asp328Gly)
c.1208A>G (p.Asp403Gly)
c.1193A>G (p.Asp398Gly)
c.1165A>G (p.Met389Val)
n.1197A>G
c.572A>G (p.Asp191Gly)
c.1061A>G (p.Asp354Gly)
c.658A>G (p.Met220Val)
c.407A>G (p.Asp136Gly)
c.319+2166A>G
c.1291A>G (p.Met431Val)
11g.71435646T>GCA381701762DHCR7c.1157A>C (p.Asp386Ala)
c.983A>C (p.Asp328Ala)
c.1208A>C (p.Asp403Ala)
c.1193A>C (p.Asp398Ala)
c.1165A>C (p.Met389Leu)
n.1197A>C
c.572A>C (p.Asp191Ala)
c.1061A>C (p.Asp354Ala)
c.658A>C (p.Met220Leu)
c.407A>C (p.Asp136Ala)
c.319+2166A>C
c.1291A>C (p.Met431Leu)
11g.71435647C>ACA381701765DHCR7c.1156G>T (p.Asp386Tyr)
c.982G>T (p.Asp328Tyr)
c.1207G>T (p.Asp403Tyr)
c.1192G>T (p.Asp398Tyr)
c.1164G>T (p.Pro388=)
n.1196G>T
c.571G>T (p.Asp191Tyr)
c.1060G>T (p.Asp354Tyr)
c.657G>T (p.Pro219=)
c.406G>T (p.Asp136Tyr)
c.319+2165G>T
c.1290G>T (p.Pro430=)
11g.71435647C=CA1981486934DHCR7c.1156G= (p.Asp386=)
c.982G= (p.Asp328=)
c.1207G= (p.Asp403=)
c.1192G= (p.Asp398=)
c.1164G= (p.Pro388=)
n.1196G=
c.571G= (p.Asp191=)
c.1060G= (p.Asp354=)
c.657G= (p.Pro219=)
c.406G= (p.Asp136=)
c.319+2165G=
c.1290G= (p.Pro430=)
11g.71435647C>GCA381701767DHCR7c.1156G>C (p.Asp386His)
c.982G>C (p.Asp328His)
c.1207G>C (p.Asp403His)
c.1192G>C (p.Asp398His)
c.1164G>C (p.Pro388=)
n.1196G>C
c.571G>C (p.Asp191His)
c.1060G>C (p.Asp354His)
c.657G>C (p.Pro219=)
c.406G>C (p.Asp136His)
c.319+2165G>C
c.1290G>C (p.Pro430=)
 ClinVar gnomAD v4
11g.71435647C>TCA6162297DHCR7c.1156G>A (p.Asp386Asn)
c.982G>A (p.Asp328Asn)
c.1207G>A (p.Asp403Asn)
c.1192G>A (p.Asp398Asn)
c.1164G>A (p.Pro388=)
n.1196G>A
c.571G>A (p.Asp191Asn)
c.1060G>A (p.Asp354Asn)
c.657G>A (p.Pro219=)
c.406G>A (p.Asp136Asn)
c.319+2165G>A
c.1290G>A (p.Pro430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435647_71435648delinsCGCA1981486935DHCR7c.1155_1156delinsCG (p.Ala385=)
c.981_982delinsCG (p.Ala327=)
c.1206_1207delinsCG (p.Ala402=)
c.1191_1192delinsCG (p.Ala397=)
c.1163_1164delinsCG (p.Pro388=)
n.1195_1196delinsCG
c.570_571delinsCG (p.Ala190=)
c.1059_1060delinsCG (p.Ala353=)
c.656_657delinsCG (p.Pro219=)
c.405_406delinsCG (p.Ala135=)
c.319+2164_319+2165delinsCG
c.1289_1290delinsCG (p.Pro430=)
11g.71435648G>ACA6162298DHCR7c.1155C>T (p.Ala385=)
c.981C>T (p.Ala327=)
c.1206C>T (p.Ala402=)
c.1191C>T (p.Ala397=)
c.1163C>T (p.Pro388Leu)
n.1195C>T
c.570C>T (p.Ala190=)
c.1059C>T (p.Ala353=)
c.656C>T (p.Pro219Leu)
c.405C>T (p.Ala135=)
c.319+2164C>T
c.1289C>T (p.Pro430Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435648G>CCA381701771DHCR7c.1155C>G (p.Ala385=)
c.981C>G (p.Ala327=)
c.1206C>G (p.Ala402=)
c.1191C>G (p.Ala397=)
c.1163C>G (p.Pro388Arg)
n.1195C>G
c.570C>G (p.Ala190=)
c.1059C>G (p.Ala353=)
c.656C>G (p.Pro219Arg)
c.405C>G (p.Ala135=)
c.319+2164C>G
c.1289C>G (p.Pro430Arg)
11g.71435648G=CA1981486936DHCR7c.1155C= (p.Ala385=)
c.981C= (p.Ala327=)
c.1206C= (p.Ala402=)
c.1191C= (p.Ala397=)
c.1163C= (p.Pro388=)
n.1195C=
c.570C= (p.Ala190=)
c.1059C= (p.Ala353=)
c.656C= (p.Pro219=)
c.405C= (p.Ala135=)
c.319+2164C=
c.1289C= (p.Pro430=)
11g.71435648G>TCA381701773DHCR7c.1155C>A (p.Ala385=)
c.981C>A (p.Ala327=)
c.1206C>A (p.Ala402=)
c.1191C>A (p.Ala397=)
c.1163C>A (p.Pro388Gln)
n.1195C>A
c.570C>A (p.Ala190=)
c.1059C>A (p.Ala353=)
c.656C>A (p.Pro219Gln)
c.405C>A (p.Ala135=)
c.319+2164C>A
c.1289C>A (p.Pro430Gln)
 dbSNP gnomAD v2 gnomAD v4
11g.71435649delCA679810888DHCR7c.1155del (p.Asp386MetfsTer27)
c.981del (p.Asp328MetfsTer27)
c.1206del (p.Asp403MetfsTer27)
c.1191del (p.Asp398MetfsTer27)
c.1163del (p.Pro388ArgfsTer?)
n.1195del
c.570del (p.Asp191MetfsTer27)
c.1059del (p.Asp354MetfsTer27)
c.656del (p.Pro219ArgfsTer?)
c.405del (p.Asp136MetfsTer27)
c.319+2164del
c.1289del (p.Pro430ArgfsTer?)
 dbSNP
11g.71435649G>ACA381701778DHCR7c.1154C>T (p.Ala385Val)
c.980C>T (p.Ala327Val)
c.1205C>T (p.Ala402Val)
c.1190C>T (p.Ala397Val)
c.1162C>T (p.Pro388Ser)
n.1194C>T
c.569C>T (p.Ala190Val)
c.1058C>T (p.Ala353Val)
c.655C>T (p.Pro219Ser)
c.404C>T (p.Ala135Val)
c.319+2163C>T
c.1288C>T (p.Pro430Ser)
 dbSNP gnomAD v2 gnomAD v4
11g.71435649G>CCA224324322DHCR7c.1154C>G (p.Ala385Gly)
c.980C>G (p.Ala327Gly)
c.1205C>G (p.Ala402Gly)
c.1190C>G (p.Ala397Gly)
c.1162C>G (p.Pro388Ala)
n.1194C>G
c.569C>G (p.Ala190Gly)
c.1058C>G (p.Ala353Gly)
c.655C>G (p.Pro219Ala)
c.404C>G (p.Ala135Gly)
c.319+2163C>G
c.1288C>G (p.Pro430Ala)
 dbSNP
11g.71435649G=CA1981486937DHCR7c.1154C= (p.Ala385=)
c.980C= (p.Ala327=)
c.1205C= (p.Ala402=)
c.1190C= (p.Ala397=)
c.1162C= (p.Pro388=)
n.1194C=
c.569C= (p.Ala190=)
c.1058C= (p.Ala353=)
c.655C= (p.Pro219=)
c.404C= (p.Ala135=)
c.319+2163C=
c.1288C= (p.Pro430=)
11g.71435649G>TCA381701776DHCR7c.1154C>A (p.Ala385Asp)
c.980C>A (p.Ala327Asp)
c.1205C>A (p.Ala402Asp)
c.1190C>A (p.Ala397Asp)
c.1162C>A (p.Pro388Thr)
n.1194C>A
c.569C>A (p.Ala190Asp)
c.1058C>A (p.Ala353Asp)
c.655C>A (p.Pro219Thr)
c.404C>A (p.Ala135Asp)
c.319+2163C>A
c.1288C>A (p.Pro430Thr)
11g.71435650C>ACA381701781DHCR7c.1153G>T (p.Ala385Ser)
c.979G>T (p.Ala327Ser)
c.1204G>T (p.Ala402Ser)
c.1189G>T (p.Ala397Ser)
c.1161G>T (p.Pro387=)
n.1193G>T
c.568G>T (p.Ala190Ser)
c.1057G>T (p.Ala353Ser)
c.654G>T (p.Pro218=)
c.403G>T (p.Ala135Ser)
c.319+2162G>T
c.1287G>T (p.Pro429=)
11g.71435650C=CA1981486938DHCR7c.1153G= (p.Ala385=)
c.979G= (p.Ala327=)
c.1204G= (p.Ala402=)
c.1189G= (p.Ala397=)
c.1161G= (p.Pro387=)
n.1193G=
c.568G= (p.Ala190=)
c.1057G= (p.Ala353=)
c.654G= (p.Pro218=)
c.403G= (p.Ala135=)
c.319+2162G=
c.1287G= (p.Pro429=)
11g.71435650C>GCA381701784DHCR7c.1153G>C (p.Ala385Pro)
c.979G>C (p.Ala327Pro)
c.1204G>C (p.Ala402Pro)
c.1189G>C (p.Ala397Pro)
c.1161G>C (p.Pro387=)
n.1193G>C
c.568G>C (p.Ala190Pro)
c.1057G>C (p.Ala353Pro)
c.654G>C (p.Pro218=)
c.403G>C (p.Ala135Pro)
c.319+2162G>C
c.1287G>C (p.Pro429=)
11g.71435650C>TCA6162299DHCR7c.1153G>A (p.Ala385Thr)
c.979G>A (p.Ala327Thr)
c.1204G>A (p.Ala402Thr)
c.1189G>A (p.Ala397Thr)
c.1161G>A (p.Pro387=)
n.1193G>A
c.568G>A (p.Ala190Thr)
c.1057G>A (p.Ala353Thr)
c.654G>A (p.Pro218=)
c.403G>A (p.Ala135Thr)
c.319+2162G>A
c.1287G>A (p.Pro429=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435651G>ACA6162300DHCR7c.1152C>T (p.Ser384=)
c.978C>T (p.Ser326=)
c.1203C>T (p.Ser401=)
c.1188C>T (p.Ser396=)
c.1160C>T (p.Pro387Leu)
n.1192C>T
c.567C>T (p.Ser189=)
c.1056C>T (p.Ser352=)
c.653C>T (p.Pro218Leu)
c.402C>T (p.Ser134=)
c.319+2161C>T
c.1286C>T (p.Pro429Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435651G>CCA381701786DHCR7c.1152C>G (p.Ser384=)
c.978C>G (p.Ser326=)
c.1203C>G (p.Ser401=)
c.1188C>G (p.Ser396=)
c.1160C>G (p.Pro387Arg)
n.1192C>G
c.567C>G (p.Ser189=)
c.1056C>G (p.Ser352=)
c.653C>G (p.Pro218Arg)
c.402C>G (p.Ser134=)
c.319+2161C>G
c.1286C>G (p.Pro429Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.71435651G=CA1981486939DHCR7c.1152C= (p.Ser384=)
c.978C= (p.Ser326=)
c.1203C= (p.Ser401=)
c.1188C= (p.Ser396=)
c.1160C= (p.Pro387=)
n.1192C=
c.567C= (p.Ser189=)
c.1056C= (p.Ser352=)
c.653C= (p.Pro218=)
c.402C= (p.Ser134=)
c.319+2161C=
c.1286C= (p.Pro429=)
11g.71435651G>TCA381701788DHCR7c.1152C>A (p.Ser384=)
c.978C>A (p.Ser326=)
c.1203C>A (p.Ser401=)
c.1188C>A (p.Ser396=)
c.1160C>A (p.Pro387Gln)
n.1192C>A
c.567C>A (p.Ser189=)
c.1056C>A (p.Ser352=)
c.653C>A (p.Pro218Gln)
c.402C>A (p.Ser134=)
c.319+2161C>A
c.1286C>A (p.Pro429Gln)
 gnomAD v4
11g.71435652G>ACA381701790DHCR7c.1151C>T (p.Ser384Phe)
c.977C>T (p.Ser326Phe)
c.1202C>T (p.Ser401Phe)
c.1187C>T (p.Ser396Phe)
c.1159C>T (p.Pro387Ser)
n.1191C>T
c.566C>T (p.Ser189Phe)
c.1055C>T (p.Ser352Phe)
c.652C>T (p.Pro218Ser)
c.401C>T (p.Ser134Phe)
c.319+2160C>T
c.1285C>T (p.Pro429Ser)
11g.71435652G>CCA6162301DHCR7c.1151C>G (p.Ser384Cys)
c.977C>G (p.Ser326Cys)
c.1202C>G (p.Ser401Cys)
c.1187C>G (p.Ser396Cys)
c.1159C>G (p.Pro387Ala)
n.1191C>G
c.566C>G (p.Ser189Cys)
c.1055C>G (p.Ser352Cys)
c.652C>G (p.Pro218Ala)
c.401C>G (p.Ser134Cys)
c.319+2160C>G
c.1285C>G (p.Pro429Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435652G=CA1981486940DHCR7c.1151C= (p.Ser384=)
c.977C= (p.Ser326=)
c.1202C= (p.Ser401=)
c.1187C= (p.Ser396=)
c.1159C= (p.Pro387=)
n.1191C=
c.566C= (p.Ser189=)
c.1055C= (p.Ser352=)
c.652C= (p.Pro218=)
c.401C= (p.Ser134=)
c.319+2160C=
c.1285C= (p.Pro429=)
11g.71435652G>TCA381701792DHCR7c.1151C>A (p.Ser384Tyr)
c.977C>A (p.Ser326Tyr)
c.1202C>A (p.Ser401Tyr)
c.1187C>A (p.Ser396Tyr)
c.1159C>A (p.Pro387Thr)
n.1191C>A
c.566C>A (p.Ser189Tyr)
c.1055C>A (p.Ser352Tyr)
c.652C>A (p.Pro218Thr)
c.401C>A (p.Ser134Tyr)
c.319+2160C>A
c.1285C>A (p.Pro429Thr)
 gnomAD v4
11g.71435653A>CCA381701794DHCR7c.1150T>G (p.Ser384Ala)
c.976T>G (p.Ser326Ala)
c.1201T>G (p.Ser401Ala)
c.1186T>G (p.Ser396Ala)
c.1158T>G (p.His386Gln)
n.1190T>G
c.565T>G (p.Ser189Ala)
c.1054T>G (p.Ser352Ala)
c.651T>G (p.His217Gln)
c.400T>G (p.Ser134Ala)
c.319+2159T>G
c.1284T>G (p.His428Gln)
11g.71435653A>GCA381701796DHCR7c.1150T>C (p.Ser384Pro)
c.976T>C (p.Ser326Pro)
c.1201T>C (p.Ser401Pro)
c.1186T>C (p.Ser396Pro)
c.1158T>C (p.His386=)
n.1190T>C
c.565T>C (p.Ser189Pro)
c.1054T>C (p.Ser352Pro)
c.651T>C (p.His217=)
c.400T>C (p.Ser134Pro)
c.319+2159T>C
c.1284T>C (p.His428=)
11g.71435653A>TCA381701799DHCR7c.1150T>A (p.Ser384Thr)
c.976T>A (p.Ser326Thr)
c.1201T>A (p.Ser401Thr)
c.1186T>A (p.Ser396Thr)
c.1158T>A (p.His386Gln)
n.1190T>A
c.565T>A (p.Ser189Thr)
c.1054T>A (p.Ser352Thr)
c.651T>A (p.His217Gln)
c.400T>A (p.Ser134Thr)
c.319+2159T>A
c.1284T>A (p.His428Gln)
11g.71435654T>ACA381701801DHCR7c.1149A>T (p.Thr383=)
c.975A>T (p.Thr325=)
c.1200A>T (p.Thr400=)
c.1185A>T (p.Thr395=)
c.1157A>T (p.His386Leu)
n.1189A>T
c.564A>T (p.Thr188=)
c.1053A>T (p.Thr351=)
c.650A>T (p.His217Leu)
c.399A>T (p.Thr133=)
c.319+2158A>T
c.1283A>T (p.His428Leu)
11g.71435654T>CCA381701802DHCR7c.1149A>G (p.Thr383=)
c.975A>G (p.Thr325=)
c.1200A>G (p.Thr400=)
c.1185A>G (p.Thr395=)
c.1157A>G (p.His386Arg)
n.1189A>G
c.564A>G (p.Thr188=)
c.1053A>G (p.Thr351=)
c.650A>G (p.His217Arg)
c.399A>G (p.Thr133=)
c.319+2158A>G
c.1283A>G (p.His428Arg)
11g.71435654T>GCA381701803DHCR7c.1149A>C (p.Thr383=)
c.975A>C (p.Thr325=)
c.1200A>C (p.Thr400=)
c.1185A>C (p.Thr395=)
c.1157A>C (p.His386Pro)
n.1189A>C
c.564A>C (p.Thr188=)
c.1053A>C (p.Thr351=)
c.650A>C (p.His217Pro)
c.399A>C (p.Thr133=)
c.319+2158A>C
c.1283A>C (p.His428Pro)
11g.71435655G>ACA6162302DHCR7c.1148C>T (p.Thr383Ile)
c.974C>T (p.Thr325Ile)
c.1199C>T (p.Thr400Ile)
c.1184C>T (p.Thr395Ile)
c.1156C>T (p.His386Tyr)
n.1188C>T
c.563C>T (p.Thr188Ile)
c.1052C>T (p.Thr351Ile)
c.649C>T (p.His217Tyr)
c.398C>T (p.Thr133Ile)
c.319+2157C>T
c.1282C>T (p.His428Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435655G>CCA381701804DHCR7c.1148C>G (p.Thr383Arg)
c.974C>G (p.Thr325Arg)
c.1199C>G (p.Thr400Arg)
c.1184C>G (p.Thr395Arg)
c.1156C>G (p.His386Asp)
n.1188C>G
c.563C>G (p.Thr188Arg)
c.1052C>G (p.Thr351Arg)
c.649C>G (p.His217Asp)
c.398C>G (p.Thr133Arg)
c.319+2157C>G
c.1282C>G (p.His428Asp)
11g.71435655G=CA1981486941DHCR7c.1148C= (p.Thr383=)
c.974C= (p.Thr325=)
c.1199C= (p.Thr400=)
c.1184C= (p.Thr395=)
c.1156C= (p.His386=)
n.1188C=
c.563C= (p.Thr188=)
c.1052C= (p.Thr351=)
c.649C= (p.His217=)
c.398C= (p.Thr133=)
c.319+2157C=
c.1282C= (p.His428=)
11g.71435655G>TCA381701806DHCR7c.1148C>A (p.Thr383Lys)
c.974C>A (p.Thr325Lys)
c.1199C>A (p.Thr400Lys)
c.1184C>A (p.Thr395Lys)
c.1156C>A (p.His386Asn)
n.1188C>A
c.563C>A (p.Thr188Lys)
c.1052C>A (p.Thr351Lys)
c.649C>A (p.His217Asn)
c.398C>A (p.Thr133Lys)
c.319+2157C>A
c.1282C>A (p.His428Asn)
11g.71435656T>ACA381701809DHCR7c.1147A>T (p.Thr383Ser)
c.973A>T (p.Thr325Ser)
c.1198A>T (p.Thr400Ser)
c.1183A>T (p.Thr395Ser)
c.1155A>T (p.Thr385=)
n.1187A>T
c.562A>T (p.Thr188Ser)
c.1051A>T (p.Thr351Ser)
c.648A>T (p.Thr216=)
c.397A>T (p.Thr133Ser)
c.319+2156A>T
c.1281A>T (p.Thr427=)
11g.71435656T>CCA381701811DHCR7c.1147A>G (p.Thr383Ala)
c.973A>G (p.Thr325Ala)
c.1198A>G (p.Thr400Ala)
c.1183A>G (p.Thr395Ala)
c.1155A>G (p.Thr385=)
n.1187A>G
c.562A>G (p.Thr188Ala)
c.1051A>G (p.Thr351Ala)
c.648A>G (p.Thr216=)
c.397A>G (p.Thr133Ala)
c.319+2156A>G
c.1281A>G (p.Thr427=)
 gnomAD v4
11g.71435656T>GCA381701813DHCR7c.1147A>C (p.Thr383Pro)
c.973A>C (p.Thr325Pro)
c.1198A>C (p.Thr400Pro)
c.1183A>C (p.Thr395Pro)
c.1155A>C (p.Thr385=)
n.1187A>C
c.562A>C (p.Thr188Pro)
c.1051A>C (p.Thr351Pro)
c.648A>C (p.Thr216=)
c.397A>C (p.Thr133Pro)
c.319+2156A>C
c.1281A>C (p.Thr427=)
11g.71435657G>ACA381701819DHCR7c.1146C>T (p.Tyr382=)
c.972C>T (p.Tyr324=)
c.1197C>T (p.Tyr399=)
c.1182C>T (p.Tyr394=)
c.1154C>T (p.Thr385Ile)
n.1186C>T
c.561C>T (p.Tyr187=)
c.1050C>T (p.Tyr350=)
c.647C>T (p.Thr216Ile)
c.396C>T (p.Tyr132=)
c.319+2155C>T
c.1280C>T (p.Thr427Ile)
 ClinVar dbSNP gnomAD v4
11g.71435657G>CCA381701821DHCR7c.1146C>G (p.Tyr382Ter)
c.972C>G (p.Tyr324Ter)
c.1197C>G (p.Tyr399Ter)
c.1182C>G (p.Tyr394Ter)
c.1154C>G (p.Thr385Arg)
n.1186C>G
c.561C>G (p.Tyr187Ter)
c.1050C>G (p.Tyr350Ter)
c.647C>G (p.Thr216Arg)
c.396C>G (p.Tyr132Ter)
c.319+2155C>G
c.1280C>G (p.Thr427Arg)
11g.71435657G=CA1981486942DHCR7c.1146C= (p.Tyr382=)
c.972C= (p.Tyr324=)
c.1197C= (p.Tyr399=)
c.1182C= (p.Tyr394=)
c.1154C= (p.Thr385=)
n.1186C=
c.561C= (p.Tyr187=)
c.1050C= (p.Tyr350=)
c.647C= (p.Thr216=)
c.396C= (p.Tyr132=)
c.319+2155C=
c.1280C= (p.Thr427=)
11g.71435657G>TCA381701822DHCR7c.1146C>A (p.Tyr382Ter)
c.972C>A (p.Tyr324Ter)
c.1197C>A (p.Tyr399Ter)
c.1182C>A (p.Tyr394Ter)
c.1154C>A (p.Thr385Lys)
n.1186C>A
c.561C>A (p.Tyr187Ter)
c.1050C>A (p.Tyr350Ter)
c.647C>A (p.Thr216Lys)
c.396C>A (p.Tyr132Ter)
c.319+2155C>A
c.1280C>A (p.Thr427Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435658T>ACA224324355DHCR7c.1145A>T (p.Tyr382Phe)
c.971A>T (p.Tyr324Phe)
c.1196A>T (p.Tyr399Phe)
c.1181A>T (p.Tyr394Phe)
c.1153A>T (p.Thr385Ser)
n.1185A>T
c.560A>T (p.Tyr187Phe)
c.1049A>T (p.Tyr350Phe)
c.646A>T (p.Thr216Ser)
c.395A>T (p.Tyr132Phe)
c.319+2154A>T
c.1279A>T (p.Thr427Ser)
 dbSNP gnomAD v4
11g.71435658T>CCA381701825DHCR7c.1145A>G (p.Tyr382Cys)
c.971A>G (p.Tyr324Cys)
c.1196A>G (p.Tyr399Cys)
c.1181A>G (p.Tyr394Cys)
c.1153A>G (p.Thr385Ala)
n.1185A>G
c.560A>G (p.Tyr187Cys)
c.1049A>G (p.Tyr350Cys)
c.646A>G (p.Thr216Ala)
c.395A>G (p.Tyr132Cys)
c.319+2154A>G
c.1279A>G (p.Thr427Ala)
11g.71435658T>GCA381701827DHCR7c.1145A>C (p.Tyr382Ser)
c.971A>C (p.Tyr324Ser)
c.1196A>C (p.Tyr399Ser)
c.1181A>C (p.Tyr394Ser)
c.1153A>C (p.Thr385Pro)
n.1185A>C
c.560A>C (p.Tyr187Ser)
c.1049A>C (p.Tyr350Ser)
c.646A>C (p.Thr216Pro)
c.395A>C (p.Tyr132Ser)
c.319+2154A>C
c.1279A>C (p.Thr427Pro)
11g.71435658T=CA1981486943DHCR7c.1145A= (p.Tyr382=)
c.971A= (p.Tyr324=)
c.1196A= (p.Tyr399=)
c.1181A= (p.Tyr394=)
c.1153A= (p.Thr385=)
n.1185A=
c.560A= (p.Tyr187=)
c.1049A= (p.Tyr350=)
c.646A= (p.Thr216=)
c.395A= (p.Tyr132=)
c.319+2154A=
c.1279A= (p.Thr427=)
11g.71435659A>CCA381701829DHCR7c.1144T>G (p.Tyr382Asp)
c.970T>G (p.Tyr324Asp)
c.1195T>G (p.Tyr399Asp)
c.1180T>G (p.Tyr394Asp)
c.1152T>G (p.Pro384=)
n.1184T>G
c.559T>G (p.Tyr187Asp)
c.1048T>G (p.Tyr350Asp)
c.645T>G (p.Pro215=)
c.394T>G (p.Tyr132Asp)
c.319+2153T>G
c.1278T>G (p.Pro426=)
11g.71435659A>GCA381701831DHCR7c.1144T>C (p.Tyr382His)
c.970T>C (p.Tyr324His)
c.1195T>C (p.Tyr399His)
c.1180T>C (p.Tyr394His)
c.1152T>C (p.Pro384=)
n.1184T>C
c.559T>C (p.Tyr187His)
c.1048T>C (p.Tyr350His)
c.645T>C (p.Pro215=)
c.394T>C (p.Tyr132His)
c.319+2153T>C
c.1278T>C (p.Pro426=)
 gnomAD v4
11g.71435659A>TCA381701833DHCR7c.1144T>A (p.Tyr382Asn)
c.970T>A (p.Tyr324Asn)
c.1195T>A (p.Tyr399Asn)
c.1180T>A (p.Tyr394Asn)
c.1152T>A (p.Pro384=)
n.1184T>A
c.559T>A (p.Tyr187Asn)
c.1048T>A (p.Tyr350Asn)
c.645T>A (p.Pro215=)
c.394T>A (p.Tyr132Asn)
c.319+2153T>A
c.1278T>A (p.Pro426=)
11g.71435660G>ACA381701838DHCR7c.1143C>T (p.Ser381=)
c.969C>T (p.Ser323=)
c.1194C>T (p.Ser398=)
c.1179C>T (p.Ser393=)
c.1151C>T (p.Pro384Leu)
n.1183C>T
c.558C>T (p.Ser186=)
c.1047C>T (p.Ser349=)
c.644C>T (p.Pro215Leu)
c.393C>T (p.Ser131=)
c.319+2152C>T
c.1277C>T (p.Pro426Leu)
 ClinVar dbSNP
11g.71435660G>CCA381701836DHCR7c.1143C>G (p.Ser381=)
c.969C>G (p.Ser323=)
c.1194C>G (p.Ser398=)
c.1179C>G (p.Ser393=)
c.1151C>G (p.Pro384Arg)
n.1183C>G
c.558C>G (p.Ser186=)
c.1047C>G (p.Ser349=)
c.644C>G (p.Pro215Arg)
c.393C>G (p.Ser131=)
c.319+2152C>G
c.1277C>G (p.Pro426Arg)
11g.71435660G=CA1981486944DHCR7c.1143C= (p.Ser381=)
c.969C= (p.Ser323=)
c.1194C= (p.Ser398=)
c.1179C= (p.Ser393=)
c.1151C= (p.Pro384=)
n.1183C=
c.558C= (p.Ser186=)
c.1047C= (p.Ser349=)
c.644C= (p.Pro215=)
c.393C= (p.Ser131=)
c.319+2152C=
c.1277C= (p.Pro426=)
11g.71435660G>TCA381701835DHCR7c.1143C>A (p.Ser381=)
c.969C>A (p.Ser323=)
c.1194C>A (p.Ser398=)
c.1179C>A (p.Ser393=)
c.1151C>A (p.Pro384His)
n.1183C>A
c.558C>A (p.Ser186=)
c.1047C>A (p.Ser349=)
c.644C>A (p.Pro215His)
c.393C>A (p.Ser131=)
c.319+2152C>A
c.1277C>A (p.Pro426His)
11g.71435661G>ACA381701844DHCR7c.1142C>T (p.Ser381Phe)
c.968C>T (p.Ser323Phe)
c.1193C>T (p.Ser398Phe)
c.1178C>T (p.Ser393Phe)
c.1150C>T (p.Pro384Ser)
n.1182C>T
c.557C>T (p.Ser186Phe)
c.1046C>T (p.Ser349Phe)
c.643C>T (p.Pro215Ser)
c.392C>T (p.Ser131Phe)
c.319+2151C>T
c.1276C>T (p.Pro426Ser)
11g.71435661G>CCA381701840DHCR7c.1142C>G (p.Ser381Cys)
c.968C>G (p.Ser323Cys)
c.1193C>G (p.Ser398Cys)
c.1178C>G (p.Ser393Cys)
c.1150C>G (p.Pro384Ala)
n.1182C>G
c.557C>G (p.Ser186Cys)
c.1046C>G (p.Ser349Cys)
c.643C>G (p.Pro215Ala)
c.392C>G (p.Ser131Cys)
c.319+2151C>G
c.1276C>G (p.Pro426Ala)
11g.71435661G>TCA381701843DHCR7c.1142C>A (p.Ser381Tyr)
c.968C>A (p.Ser323Tyr)
c.1193C>A (p.Ser398Tyr)
c.1178C>A (p.Ser393Tyr)
c.1150C>A (p.Pro384Thr)
n.1182C>A
c.557C>A (p.Ser186Tyr)
c.1046C>A (p.Ser349Tyr)
c.643C>A (p.Pro215Thr)
c.392C>A (p.Ser131Tyr)
c.319+2151C>A
c.1276C>A (p.Pro426Thr)
11g.71435662A>CCA381701848DHCR7c.1141T>G (p.Ser381Ala)
c.967T>G (p.Ser323Ala)
c.1192T>G (p.Ser398Ala)
c.1177T>G (p.Ser393Ala)
c.1149T>G (p.Ala383=)
n.1181T>G
c.556T>G (p.Ser186Ala)
c.1045T>G (p.Ser349Ala)
c.642T>G (p.Ala214=)
c.391T>G (p.Ser131Ala)
c.319+2150T>G
c.1275T>G (p.Ala425=)
11g.71435662A>GCA381701850DHCR7c.1141T>C (p.Ser381Pro)
c.967T>C (p.Ser323Pro)
c.1192T>C (p.Ser398Pro)
c.1177T>C (p.Ser393Pro)
c.1149T>C (p.Ala383=)
n.1181T>C
c.556T>C (p.Ser186Pro)
c.1045T>C (p.Ser349Pro)
c.642T>C (p.Ala214=)
c.391T>C (p.Ser131Pro)
c.319+2150T>C
c.1275T>C (p.Ala425=)
11g.71435662A>TCA381701852DHCR7c.1141T>A (p.Ser381Thr)
c.967T>A (p.Ser323Thr)
c.1192T>A (p.Ser398Thr)
c.1177T>A (p.Ser393Thr)
c.1149T>A (p.Ala383=)
n.1181T>A
c.556T>A (p.Ser186Thr)
c.1045T>A (p.Ser349Thr)
c.642T>A (p.Ala214=)
c.391T>A (p.Ser131Thr)
c.319+2150T>A
c.1275T>A (p.Ala425=)
11g.71435663G>ACA381701857DHCR7c.1140C>T (p.Cys380=)
c.966C>T (p.Cys322=)
c.1191C>T (p.Cys397=)
c.1176C>T (p.Cys392=)
c.1148C>T (p.Ala383Val)
n.1180C>T
c.555C>T (p.Cys185=)
c.1044C>T (p.Cys348=)
c.641C>T (p.Ala214Val)
c.390C>T (p.Cys130=)
c.319+2149C>T
c.1274C>T (p.Ala425Val)
11g.71435663G>CCA381701856DHCR7c.1140C>G (p.Cys380Trp)
c.966C>G (p.Cys322Trp)
c.1191C>G (p.Cys397Trp)
c.1176C>G (p.Cys392Trp)
c.1148C>G (p.Ala383Gly)
n.1180C>G
c.555C>G (p.Cys185Trp)
c.1044C>G (p.Cys348Trp)
c.641C>G (p.Ala214Gly)
c.390C>G (p.Cys130Trp)
c.319+2149C>G
c.1274C>G (p.Ala425Gly)
11g.71435663G=CA1981486945DHCR7c.1140C= (p.Cys380=)
c.966C= (p.Cys322=)
c.1191C= (p.Cys397=)
c.1176C= (p.Cys392=)
c.1148C= (p.Ala383=)
n.1180C=
c.555C= (p.Cys185=)
c.1044C= (p.Cys348=)
c.641C= (p.Ala214=)
c.390C= (p.Cys130=)
c.319+2149C=
c.1274C= (p.Ala425=)
11g.71435663G>TCA6162303DHCR7c.1140C>A (p.Cys380Ter)
c.966C>A (p.Cys322Ter)
c.1191C>A (p.Cys397Ter)
c.1176C>A (p.Cys392Ter)
c.1148C>A (p.Ala383Asp)
n.1180C>A
c.555C>A (p.Cys185Ter)
c.1044C>A (p.Cys348Ter)
c.641C>A (p.Ala214Asp)
c.390C>A (p.Cys130Ter)
c.319+2149C>A
c.1274C>A (p.Ala425Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435664C>ACA6162304DHCR7c.1139G>T (p.Cys380Phe)
c.965G>T (p.Cys322Phe)
c.1190G>T (p.Cys397Phe)
c.1175G>T (p.Cys392Phe)
c.1147G>T (p.Ala383Ser)
n.1179G>T
c.554G>T (p.Cys185Phe)
c.1043G>T (p.Cys348Phe)
c.640G>T (p.Ala214Ser)
c.389G>T (p.Cys130Phe)
c.319+2148G>T
c.1273G>T (p.Ala425Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435664C=CA1981486946DHCR7c.1139G= (p.Cys380=)
c.965G= (p.Cys322=)
c.1190G= (p.Cys397=)
c.1175G= (p.Cys392=)
c.1147G= (p.Ala383=)
n.1179G=
c.554G= (p.Cys185=)
c.1043G= (p.Cys348=)
c.640G= (p.Ala214=)
c.389G= (p.Cys130=)
c.319+2148G=
c.1273G= (p.Ala425=)
11g.71435664C>GCA381701860DHCR7c.1139G>C (p.Cys380Ser)
c.965G>C (p.Cys322Ser)
c.1190G>C (p.Cys397Ser)
c.1175G>C (p.Cys392Ser)
c.1147G>C (p.Ala383Pro)
n.1179G>C
c.554G>C (p.Cys185Ser)
c.1043G>C (p.Cys348Ser)
c.640G>C (p.Ala214Pro)
c.389G>C (p.Cys130Ser)
c.319+2148G>C
c.1273G>C (p.Ala425Pro)
11g.71435664C>TCA274343DHCR7c.1139G>A (p.Cys380Tyr)
c.965G>A (p.Cys322Tyr)
c.1190G>A (p.Cys397Tyr)
c.1175G>A (p.Cys392Tyr)
c.1147G>A (p.Ala383Thr)
n.1179G>A
c.554G>A (p.Cys185Tyr)
c.1043G>A (p.Cys348Tyr)
c.640G>A (p.Ala214Thr)
c.389G>A (p.Cys130Tyr)
c.319+2148G>A
c.1273G>A (p.Ala425Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435665A=CA1981486947DHCR7c.1138T= (p.Cys380=)
c.964T= (p.Cys322=)
c.1189T= (p.Cys397=)
c.1174T= (p.Cys392=)
c.1146T= (p.Ser382=)
n.1178T=
c.553T= (p.Cys185=)
c.1042T= (p.Cys348=)
c.639T= (p.Ser213=)
c.388T= (p.Cys130=)
c.319+2147T=
c.1272T= (p.Ser424=)
11g.71435665A>CCA381701862DHCR7c.1138T>G (p.Cys380Gly)
c.964T>G (p.Cys322Gly)
c.1189T>G (p.Cys397Gly)
c.1174T>G (p.Cys392Gly)
c.1146T>G (p.Ser382Arg)
n.1178T>G
c.553T>G (p.Cys185Gly)
c.1042T>G (p.Cys348Gly)
c.639T>G (p.Ser213Arg)
c.388T>G (p.Cys130Gly)
c.319+2147T>G
c.1272T>G (p.Ser424Arg)
11g.71435665A>GCA6162305DHCR7c.1138T>C (p.Cys380Arg)
c.964T>C (p.Cys322Arg)
c.1189T>C (p.Cys397Arg)
c.1174T>C (p.Cys392Arg)
c.1146T>C (p.Ser382=)
n.1178T>C
c.553T>C (p.Cys185Arg)
c.1042T>C (p.Cys348Arg)
c.639T>C (p.Ser213=)
c.388T>C (p.Cys130Arg)
c.319+2147T>C
c.1272T>C (p.Ser424=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435665A>TCA381701864DHCR7c.1138T>A (p.Cys380Ser)
c.964T>A (p.Cys322Ser)
c.1189T>A (p.Cys397Ser)
c.1174T>A (p.Cys392Ser)
c.1146T>A (p.Ser382Arg)
n.1178T>A
c.553T>A (p.Cys185Ser)
c.1042T>A (p.Cys348Ser)
c.639T>A (p.Ser213Arg)
c.388T>A (p.Cys130Ser)
c.319+2147T>A
c.1272T>A (p.Ser424Arg)
11g.71435666C>ACA381701866DHCR7c.1137G>T (p.Glu379Asp)
c.963G>T (p.Glu321Asp)
c.1188G>T (p.Glu396Asp)
c.1173G>T (p.Glu391Asp)
c.1145G>T (p.Ser382Ile)
n.1177G>T
c.552G>T (p.Glu184Asp)
c.1041G>T (p.Glu347Asp)
c.638G>T (p.Ser213Ile)
c.387G>T (p.Glu129Asp)
c.319+2146G>T
c.1271G>T (p.Ser424Ile)
11g.71435666C=CA1981486948DHCR7c.1137G= (p.Glu379=)
c.963G= (p.Glu321=)
c.1188G= (p.Glu396=)
c.1173G= (p.Glu391=)
c.1145G= (p.Ser382=)
n.1177G=
c.552G= (p.Glu184=)
c.1041G= (p.Glu347=)
c.638G= (p.Ser213=)
c.387G= (p.Glu129=)
c.319+2146G=
c.1271G= (p.Ser424=)
11g.71435666C>GCA381701869DHCR7c.1137G>C (p.Glu379Asp)
c.963G>C (p.Glu321Asp)
c.1188G>C (p.Glu396Asp)
c.1173G>C (p.Glu391Asp)
c.1145G>C (p.Ser382Thr)
n.1177G>C
c.552G>C (p.Glu184Asp)
c.1041G>C (p.Glu347Asp)
c.638G>C (p.Ser213Thr)
c.387G>C (p.Glu129Asp)
c.319+2146G>C
c.1271G>C (p.Ser424Thr)
11g.71435666C>TCA224324370DHCR7c.1137G>A (p.Glu379=)
c.963G>A (p.Glu321=)
c.1188G>A (p.Glu396=)
c.1173G>A (p.Glu391=)
c.1145G>A (p.Ser382Asn)
n.1177G>A
c.552G>A (p.Glu184=)
c.1041G>A (p.Glu347=)
c.638G>A (p.Ser213Asn)
c.387G>A (p.Glu129=)
c.319+2146G>A
c.1271G>A (p.Ser424Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435667T>ACA381701871DHCR7c.1136A>T (p.Glu379Val)
c.962A>T (p.Glu321Val)
c.1187A>T (p.Glu396Val)
c.1172A>T (p.Glu391Val)
c.1144A>T (p.Ser382Cys)
n.1176A>T
c.551A>T (p.Glu184Val)
c.1040A>T (p.Glu347Val)
c.637A>T (p.Ser213Cys)
c.386A>T (p.Glu129Val)
c.319+2145A>T
c.1270A>T (p.Ser424Cys)
11g.71435667T>CCA381701873DHCR7c.1136A>G (p.Glu379Gly)
c.962A>G (p.Glu321Gly)
c.1187A>G (p.Glu396Gly)
c.1172A>G (p.Glu391Gly)
c.1144A>G (p.Ser382Gly)
n.1176A>G
c.551A>G (p.Glu184Gly)
c.1040A>G (p.Glu347Gly)
c.637A>G (p.Ser213Gly)
c.386A>G (p.Glu129Gly)
c.319+2145A>G
c.1270A>G (p.Ser424Gly)
 gnomAD v4
11g.71435667T>GCA381701875DHCR7c.1136A>C (p.Glu379Ala)
c.962A>C (p.Glu321Ala)
c.1187A>C (p.Glu396Ala)
c.1172A>C (p.Glu391Ala)
c.1144A>C (p.Ser382Arg)
n.1176A>C
c.551A>C (p.Glu184Ala)
c.1040A>C (p.Glu347Ala)
c.637A>C (p.Ser213Arg)
c.386A>C (p.Glu129Ala)
c.319+2145A>C
c.1270A>C (p.Ser424Arg)
11g.71435668C>ACA381701876DHCR7c.1135G>T (p.Glu379Ter)
c.961G>T (p.Glu321Ter)
c.1186G>T (p.Glu396Ter)
c.1171G>T (p.Glu391Ter)
c.1143G>T (p.Ser381=)
n.1175G>T
c.550G>T (p.Glu184Ter)
c.1039G>T (p.Glu347Ter)
c.636G>T (p.Ser212=)
c.385G>T (p.Glu129Ter)
c.319+2144G>T
c.1269G>T (p.Ser423=)
11g.71435668C=CA1981486949DHCR7c.1135G= (p.Glu379=)
c.961G= (p.Glu321=)
c.1186G= (p.Glu396=)
c.1171G= (p.Glu391=)
c.1143G= (p.Ser381=)
n.1175G=
c.550G= (p.Glu184=)
c.1039G= (p.Glu347=)
c.636G= (p.Ser212=)
c.385G= (p.Glu129=)
c.319+2144G=
c.1269G= (p.Ser423=)
11g.71435668C>GCA381701878DHCR7c.1135G>C (p.Glu379Gln)
c.961G>C (p.Glu321Gln)
c.1186G>C (p.Glu396Gln)
c.1171G>C (p.Glu391Gln)
c.1143G>C (p.Ser381=)
n.1175G>C
c.550G>C (p.Glu184Gln)
c.1039G>C (p.Glu347Gln)
c.636G>C (p.Ser212=)
c.385G>C (p.Glu129Gln)
c.319+2144G>C
c.1269G>C (p.Ser423=)
 gnomAD v4
11g.71435668C>TCA6162306DHCR7c.1135G>A (p.Glu379Lys)
c.961G>A (p.Glu321Lys)
c.1186G>A (p.Glu396Lys)
c.1171G>A (p.Glu391Lys)
c.1143G>A (p.Ser381=)
n.1175G>A
c.550G>A (p.Glu184Lys)
c.1039G>A (p.Glu347Lys)
c.636G>A (p.Ser212=)
c.385G>A (p.Glu129Lys)
c.319+2144G>A
c.1269G>A (p.Ser423=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435669G>ACA6162307DHCR7c.1134C>T (p.Ile378=)
c.960C>T (p.Ile320=)
c.1185C>T (p.Ile395=)
c.1170C>T (p.Ile390=)
c.1142C>T (p.Ser381Leu)
n.1174C>T
c.549C>T (p.Ile183=)
c.1038C>T (p.Ile346=)
c.635C>T (p.Ser212Leu)
c.384C>T (p.Ile128=)
c.319+2143C>T
c.1268C>T (p.Ser423Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435669G>CCA6162308DHCR7c.1134C>G (p.Ile378Met)
c.960C>G (p.Ile320Met)
c.1185C>G (p.Ile395Met)
c.1170C>G (p.Ile390Met)
c.1142C>G (p.Ser381Trp)
n.1174C>G
c.549C>G (p.Ile183Met)
c.1038C>G (p.Ile346Met)
c.635C>G (p.Ser212Trp)
c.384C>G (p.Ile128Met)
c.319+2143C>G
c.1268C>G (p.Ser423Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435669G=CA1981486950DHCR7c.1134C= (p.Ile378=)
c.960C= (p.Ile320=)
c.1185C= (p.Ile395=)
c.1170C= (p.Ile390=)
c.1142C= (p.Ser381=)
n.1174C=
c.549C= (p.Ile183=)
c.1038C= (p.Ile346=)
c.635C= (p.Ser212=)
c.384C= (p.Ile128=)
c.319+2143C=
c.1268C= (p.Ser423=)
11g.71435669G>TCA381701883DHCR7c.1134C>A (p.Ile378=)
c.960C>A (p.Ile320=)
c.1185C>A (p.Ile395=)
c.1170C>A (p.Ile390=)
c.1142C>A (p.Ser381Ter)
n.1174C>A
c.549C>A (p.Ile183=)
c.1038C>A (p.Ile346=)
c.635C>A (p.Ser212Ter)
c.384C>A (p.Ile128=)
c.319+2143C>A
c.1268C>A (p.Ser423Ter)
11g.71435670A>CCA381701885DHCR7c.1133T>G (p.Ile378Ser)
c.959T>G (p.Ile320Ser)
c.1184T>G (p.Ile395Ser)
c.1169T>G (p.Ile390Ser)
c.1141T>G (p.Ser381Ala)
n.1173T>G
c.548T>G (p.Ile183Ser)
c.1037T>G (p.Ile346Ser)
c.634T>G (p.Ser212Ala)
c.383T>G (p.Ile128Ser)
c.319+2142T>G
c.1267T>G (p.Ser423Ala)
11g.71435670A>GCA381701886DHCR7c.1133T>C (p.Ile378Thr)
c.959T>C (p.Ile320Thr)
c.1184T>C (p.Ile395Thr)
c.1169T>C (p.Ile390Thr)
c.1141T>C (p.Ser381Pro)
n.1173T>C
c.548T>C (p.Ile183Thr)
c.1037T>C (p.Ile346Thr)
c.634T>C (p.Ser212Pro)
c.383T>C (p.Ile128Thr)
c.319+2142T>C
c.1267T>C (p.Ser423Pro)
 gnomAD v4
11g.71435670A>TCA381701888DHCR7c.1133T>A (p.Ile378Asn)
c.959T>A (p.Ile320Asn)
c.1184T>A (p.Ile395Asn)
c.1169T>A (p.Ile390Asn)
c.1141T>A (p.Ser381Thr)
n.1173T>A
c.548T>A (p.Ile183Asn)
c.1037T>A (p.Ile346Asn)
c.634T>A (p.Ser212Thr)
c.383T>A (p.Ile128Asn)
c.319+2142T>A
c.1267T>A (p.Ser423Thr)
11g.71435671T>ACA381701892DHCR7c.1132A>T (p.Ile378Phe)
c.958A>T (p.Ile320Phe)
c.1183A>T (p.Ile395Phe)
c.1168A>T (p.Ile390Phe)
c.1140A>T (p.Ser380=)
n.1172A>T
c.547A>T (p.Ile183Phe)
c.1036A>T (p.Ile346Phe)
c.633A>T (p.Ser211=)
c.382A>T (p.Ile128Phe)
c.319+2141A>T
c.1266A>T (p.Ser422=)
11g.71435671T>CCA381701894DHCR7c.1132A>G (p.Ile378Val)
c.958A>G (p.Ile320Val)
c.1183A>G (p.Ile395Val)
c.1168A>G (p.Ile390Val)
c.1140A>G (p.Ser380=)
n.1172A>G
c.547A>G (p.Ile183Val)
c.1036A>G (p.Ile346Val)
c.633A>G (p.Ser211=)
c.382A>G (p.Ile128Val)
c.319+2141A>G
c.1266A>G (p.Ser422=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435671T>GCA381701890DHCR7c.1132A>C (p.Ile378Leu)
c.958A>C (p.Ile320Leu)
c.1183A>C (p.Ile395Leu)
c.1168A>C (p.Ile390Leu)
c.1140A>C (p.Ser380=)
n.1172A>C
c.547A>C (p.Ile183Leu)
c.1036A>C (p.Ile346Leu)
c.633A>C (p.Ser211=)
c.382A>C (p.Ile128Leu)
c.319+2141A>C
c.1266A>C (p.Ser422=)
11g.71435671T=CA1981486951DHCR7c.1132A= (p.Ile378=)
c.958A= (p.Ile320=)
c.1183A= (p.Ile395=)
c.1168A= (p.Ile390=)
c.1140A= (p.Ser380=)
n.1172A=
c.547A= (p.Ile183=)
c.1036A= (p.Ile346=)
c.633A= (p.Ser211=)
c.382A= (p.Ile128=)
c.319+2141A=
c.1266A= (p.Ser422=)
11g.71435672G>ACA381701896DHCR7c.1131C>T (p.Val377=)
c.957C>T (p.Val319=)
c.1182C>T (p.Val394=)
c.1167C>T (p.Val389=)
c.1139C>T (p.Ser380Leu)
n.1171C>T
c.546C>T (p.Val182=)
c.1035C>T (p.Val345=)
c.632C>T (p.Ser211Leu)
c.381C>T (p.Val127=)
c.319+2140C>T
c.1265C>T (p.Ser422Leu)
11g.71435672G>CCA381701897DHCR7c.1131C>G (p.Val377=)
c.957C>G (p.Val319=)
c.1182C>G (p.Val394=)
c.1167C>G (p.Val389=)
c.1139C>G (p.Ser380Ter)
n.1171C>G
c.546C>G (p.Val182=)
c.1035C>G (p.Val345=)
c.632C>G (p.Ser211Ter)
c.381C>G (p.Val127=)
c.319+2140C>G
c.1265C>G (p.Ser422Ter)
11g.71435672G>TCA381701899DHCR7c.1131C>A (p.Val377=)
c.957C>A (p.Val319=)
c.1182C>A (p.Val394=)
c.1167C>A (p.Val389=)
c.1139C>A (p.Ser380Ter)
n.1171C>A
c.546C>A (p.Val182=)
c.1035C>A (p.Val345=)
c.632C>A (p.Ser211Ter)
c.381C>A (p.Val127=)
c.319+2140C>A
c.1265C>A (p.Ser422Ter)
 ClinVar dbSNP
11g.71435673A>CCA381701902DHCR7c.1130T>G (p.Val377Gly)
c.956T>G (p.Val319Gly)
c.1181T>G (p.Val394Gly)
c.1166T>G (p.Val389Gly)
c.1138T>G (p.Ser380Ala)
n.1170T>G
c.545T>G (p.Val182Gly)
c.1034T>G (p.Val345Gly)
c.631T>G (p.Ser211Ala)
c.380T>G (p.Val127Gly)
c.319+2139T>G
c.1264T>G (p.Ser422Ala)
11g.71435673A>GCA381701904DHCR7c.1130T>C (p.Val377Ala)
c.956T>C (p.Val319Ala)
c.1181T>C (p.Val394Ala)
c.1166T>C (p.Val389Ala)
c.1138T>C (p.Ser380Pro)
n.1170T>C
c.545T>C (p.Val182Ala)
c.1034T>C (p.Val345Ala)
c.631T>C (p.Ser211Pro)
c.380T>C (p.Val127Ala)
c.319+2139T>C
c.1264T>C (p.Ser422Pro)
11g.71435673A>TCA381701905DHCR7c.1130T>A (p.Val377Asp)
c.956T>A (p.Val319Asp)
c.1181T>A (p.Val394Asp)
c.1166T>A (p.Val389Asp)
c.1138T>A (p.Ser380Thr)
n.1170T>A
c.545T>A (p.Val182Asp)
c.1034T>A (p.Val345Asp)
c.631T>A (p.Ser211Thr)
c.380T>A (p.Val127Asp)
c.319+2139T>A
c.1264T>A (p.Ser422Thr)
11g.71435674C>ACA381701911DHCR7c.1129G>T (p.Val377Phe)
c.955G>T (p.Val319Phe)
c.1180G>T (p.Val394Phe)
c.1165G>T (p.Val389Phe)
c.1137G>T (p.Arg379Ser)
n.1169G>T
c.544G>T (p.Val182Phe)
c.1033G>T (p.Val345Phe)
c.630G>T (p.Arg210Ser)
c.379G>T (p.Val127Phe)
c.319+2138G>T
c.1263G>T (p.Arg421Ser)
11g.71435674C>GCA381701909DHCR7c.1129G>C (p.Val377Leu)
c.955G>C (p.Val319Leu)
c.1180G>C (p.Val394Leu)
c.1165G>C (p.Val389Leu)
c.1137G>C (p.Arg379Ser)
n.1169G>C
c.544G>C (p.Val182Leu)
c.1033G>C (p.Val345Leu)
c.630G>C (p.Arg210Ser)
c.379G>C (p.Val127Leu)
c.319+2138G>C
c.1263G>C (p.Arg421Ser)
11g.71435674C>TCA381701907DHCR7c.1129G>A (p.Val377Ile)
c.955G>A (p.Val319Ile)
c.1180G>A (p.Val394Ile)
c.1165G>A (p.Val389Ile)
c.1137G>A (p.Arg379=)
n.1169G>A
c.544G>A (p.Val182Ile)
c.1033G>A (p.Val345Ile)
c.630G>A (p.Arg210=)
c.379G>A (p.Val127Ile)
c.319+2138G>A
c.1263G>A (p.Arg421=)
11g.71435675C>ACA381701913DHCR7c.1128G>T (p.Lys376Asn)
c.954G>T (p.Lys318Asn)
c.1179G>T (p.Lys393Asn)
c.1164G>T (p.Lys388Asn)
c.1136G>T (p.Arg379Met)
n.1168G>T
c.543G>T (p.Lys181Asn)
c.1032G>T (p.Lys344Asn)
c.629G>T (p.Arg210Met)
c.378G>T (p.Lys126Asn)
c.319+2137G>T
c.1262G>T (p.Arg421Met)
11g.71435675C>GCA381701915DHCR7c.1128G>C (p.Lys376Asn)
c.954G>C (p.Lys318Asn)
c.1179G>C (p.Lys393Asn)
c.1164G>C (p.Lys388Asn)
c.1136G>C (p.Arg379Thr)
n.1168G>C
c.543G>C (p.Lys181Asn)
c.1032G>C (p.Lys344Asn)
c.629G>C (p.Arg210Thr)
c.378G>C (p.Lys126Asn)
c.319+2137G>C
c.1262G>C (p.Arg421Thr)
11g.71435675C>TCA381701916DHCR7c.1128G>A (p.Lys376=)
c.954G>A (p.Lys318=)
c.1179G>A (p.Lys393=)
c.1164G>A (p.Lys388=)
c.1136G>A (p.Arg379Lys)
n.1168G>A
c.543G>A (p.Lys181=)
c.1032G>A (p.Lys344=)
c.629G>A (p.Arg210Lys)
c.378G>A (p.Lys126=)
c.319+2137G>A
c.1262G>A (p.Arg421Lys)
11g.71435676T>ACA381701918DHCR7c.1127A>T (p.Lys376Met)
c.953A>T (p.Lys318Met)
c.1178A>T (p.Lys393Met)
c.1163A>T (p.Lys388Met)
c.1135A>T (p.Arg379Trp)
n.1167A>T
c.542A>T (p.Lys181Met)
c.1031A>T (p.Lys344Met)
c.628A>T (p.Arg210Trp)
c.377A>T (p.Lys126Met)
c.319+2136A>T
c.1261A>T (p.Arg421Trp)
11g.71435676T>CCA6162309DHCR7c.1127A>G (p.Lys376Arg)
c.953A>G (p.Lys318Arg)
c.1178A>G (p.Lys393Arg)
c.1163A>G (p.Lys388Arg)
c.1135A>G (p.Arg379Gly)
n.1167A>G
c.542A>G (p.Lys181Arg)
c.1031A>G (p.Lys344Arg)
c.628A>G (p.Arg210Gly)
c.377A>G (p.Lys126Arg)
c.319+2136A>G
c.1261A>G (p.Arg421Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435676T>GCA381701921DHCR7c.1127A>C (p.Lys376Thr)
c.953A>C (p.Lys318Thr)
c.1178A>C (p.Lys393Thr)
c.1163A>C (p.Lys388Thr)
c.1135A>C (p.Arg379=)
n.1167A>C
c.542A>C (p.Lys181Thr)
c.1031A>C (p.Lys344Thr)
c.628A>C (p.Arg210=)
c.377A>C (p.Lys126Thr)
c.319+2136A>C
c.1261A>C (p.Arg421=)
11g.71435676T=CA1981486952DHCR7c.1127A= (p.Lys376=)
c.953A= (p.Lys318=)
c.1178A= (p.Lys393=)
c.1163A= (p.Lys388=)
c.1135A= (p.Arg379=)
n.1167A=
c.542A= (p.Lys181=)
c.1031A= (p.Lys344=)
c.628A= (p.Arg210=)
c.377A= (p.Lys126=)
c.319+2136A=
c.1261A= (p.Arg421=)
11g.71435677delCA658820688DHCR7c.1127del (p.Lys376ArgfsTer?)
c.953del (p.Lys318ArgfsTer?)
c.1178del (p.Lys393ArgfsTer?)
c.1163del (p.Lys388ArgfsTer?)
c.1135del (p.Arg379GlyfsTer?)
n.1167del
c.542del (p.Lys181ArgfsTer?)
c.1031del (p.Lys344ArgfsTer?)
c.628del (p.Arg210GlyfsTer?)
c.377del (p.Lys126ArgfsTer?)
c.319+2136del
c.1261del (p.Arg421GlyfsTer?)
11g.71435677T>ACA381701924DHCR7c.1126A>T (p.Lys376Ter)
c.952A>T (p.Lys318Ter)
c.1177A>T (p.Lys393Ter)
c.1162A>T (p.Lys388Ter)
c.1134A>T (p.Pro378=)
n.1166A>T
c.541A>T (p.Lys181Ter)
c.1030A>T (p.Lys344Ter)
c.627A>T (p.Pro209=)
c.376A>T (p.Lys126Ter)
c.319+2135A>T
c.1260A>T (p.Pro420=)
11g.71435677T>CCA6162310DHCR7c.1126A>G (p.Lys376Glu)
c.952A>G (p.Lys318Glu)
c.1177A>G (p.Lys393Glu)
c.1162A>G (p.Lys388Glu)
c.1134A>G (p.Pro378=)
n.1166A>G
c.541A>G (p.Lys181Glu)
c.1030A>G (p.Lys344Glu)
c.627A>G (p.Pro209=)
c.376A>G (p.Lys126Glu)
c.319+2135A>G
c.1260A>G (p.Pro420=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435677T>GCA381701925DHCR7c.1126A>C (p.Lys376Gln)
c.952A>C (p.Lys318Gln)
c.1177A>C (p.Lys393Gln)
c.1162A>C (p.Lys388Gln)
c.1134A>C (p.Pro378=)
n.1166A>C
c.541A>C (p.Lys181Gln)
c.1030A>C (p.Lys344Gln)
c.627A>C (p.Pro209=)
c.376A>C (p.Lys126Gln)
c.319+2135A>C
c.1260A>C (p.Pro420=)
11g.71435677T=CA1981486953DHCR7c.1126A= (p.Lys376=)
c.952A= (p.Lys318=)
c.1177A= (p.Lys393=)
c.1162A= (p.Lys388=)
c.1134A= (p.Pro378=)
n.1166A=
c.541A= (p.Lys181=)
c.1030A= (p.Lys344=)
c.627A= (p.Pro209=)
c.376A= (p.Lys126=)
c.319+2135A=
c.1260A= (p.Pro420=)
11g.71435678G>ACA381701929DHCR7c.1125C>T (p.Pro375=)
c.951C>T (p.Pro317=)
c.1176C>T (p.Pro392=)
c.1161C>T (p.Pro387=)
c.1133C>T (p.Pro378Leu)
n.1165C>T
c.540C>T (p.Pro180=)
c.1029C>T (p.Pro343=)
c.626C>T (p.Pro209Leu)
c.375C>T (p.Pro125=)
c.319+2134C>T
c.1259C>T (p.Pro420Leu)
11g.71435678G>CCA381701930DHCR7c.1125C>G (p.Pro375=)
c.951C>G (p.Pro317=)
c.1176C>G (p.Pro392=)
c.1161C>G (p.Pro387=)
c.1133C>G (p.Pro378Arg)
n.1165C>G
c.540C>G (p.Pro180=)
c.1029C>G (p.Pro343=)
c.626C>G (p.Pro209Arg)
c.375C>G (p.Pro125=)
c.319+2134C>G
c.1259C>G (p.Pro420Arg)
11g.71435678G>TCA381701931DHCR7c.1125C>A (p.Pro375=)
c.951C>A (p.Pro317=)
c.1176C>A (p.Pro392=)
c.1161C>A (p.Pro387=)
c.1133C>A (p.Pro378Gln)
n.1165C>A
c.540C>A (p.Pro180=)
c.1029C>A (p.Pro343=)
c.626C>A (p.Pro209Gln)
c.375C>A (p.Pro125=)
c.319+2134C>A
c.1259C>A (p.Pro420Gln)
11g.71435679G>ACA381701934DHCR7c.1124C>T (p.Pro375Leu)
c.950C>T (p.Pro317Leu)
c.1175C>T (p.Pro392Leu)
c.1160C>T (p.Pro387Leu)
c.1132C>T (p.Pro378Ser)
n.1164C>T
c.539C>T (p.Pro180Leu)
c.1028C>T (p.Pro343Leu)
c.625C>T (p.Pro209Ser)
c.374C>T (p.Pro125Leu)
c.319+2133C>T
c.1258C>T (p.Pro420Ser)
 gnomAD v4
11g.71435679G>CCA381701936DHCR7c.1124C>G (p.Pro375Arg)
c.950C>G (p.Pro317Arg)
c.1175C>G (p.Pro392Arg)
c.1160C>G (p.Pro387Arg)
c.1132C>G (p.Pro378Ala)
n.1164C>G
c.539C>G (p.Pro180Arg)
c.1028C>G (p.Pro343Arg)
c.625C>G (p.Pro209Ala)
c.374C>G (p.Pro125Arg)
c.319+2133C>G
c.1258C>G (p.Pro420Ala)
 ClinVar
11g.71435679G>TCA381701937DHCR7c.1124C>A (p.Pro375His)
c.950C>A (p.Pro317His)
c.1175C>A (p.Pro392His)
c.1160C>A (p.Pro387His)
c.1132C>A (p.Pro378Thr)
n.1164C>A
c.539C>A (p.Pro180His)
c.1028C>A (p.Pro343His)
c.625C>A (p.Pro209Thr)
c.374C>A (p.Pro125His)
c.319+2133C>A
c.1258C>A (p.Pro420Thr)
11g.71435680G>ACA381701939DHCR7c.1123C>T (p.Pro375Ser)
c.949C>T (p.Pro317Ser)
c.1174C>T (p.Pro392Ser)
c.1159C>T (p.Pro387Ser)
c.1131C>T (p.Ser377=)
n.1163C>T
c.538C>T (p.Pro180Ser)
c.1027C>T (p.Pro343Ser)
c.624C>T (p.Ser208=)
c.373C>T (p.Pro125Ser)
c.319+2132C>T
c.1257C>T (p.Ser419=)
11g.71435680G>CCA381701941DHCR7c.1123C>G (p.Pro375Ala)
c.949C>G (p.Pro317Ala)
c.1174C>G (p.Pro392Ala)
c.1159C>G (p.Pro387Ala)
c.1131C>G (p.Ser377Arg)
n.1163C>G
c.538C>G (p.Pro180Ala)
c.1027C>G (p.Pro343Ala)
c.624C>G (p.Ser208Arg)
c.373C>G (p.Pro125Ala)
c.319+2132C>G
c.1257C>G (p.Ser419Arg)
11g.71435680G>TCA381701942DHCR7c.1123C>A (p.Pro375Thr)
c.949C>A (p.Pro317Thr)
c.1174C>A (p.Pro392Thr)
c.1159C>A (p.Pro387Thr)
c.1131C>A (p.Ser377Arg)
n.1163C>A
c.538C>A (p.Pro180Thr)
c.1027C>A (p.Pro343Thr)
c.624C>A (p.Ser208Arg)
c.373C>A (p.Pro125Thr)
c.319+2132C>A
c.1257C>A (p.Ser419Arg)
 gnomAD v4
11g.71435681C>ACA381701945DHCR7c.1122G>T (p.Lys374Asn)
c.948G>T (p.Lys316Asn)
c.1173G>T (p.Lys391Asn)
c.1158G>T (p.Lys386Asn)
c.1130G>T (p.Ser377Ile)
n.1162G>T
c.537G>T (p.Lys179Asn)
c.1026G>T (p.Lys342Asn)
c.623G>T (p.Ser208Ile)
c.372G>T (p.Lys124Asn)
c.319+2131G>T
c.1256G>T (p.Ser419Ile)
 gnomAD v4
11g.71435681C>GCA381701947DHCR7c.1122G>C (p.Lys374Asn)
c.948G>C (p.Lys316Asn)
c.1173G>C (p.Lys391Asn)
c.1158G>C (p.Lys386Asn)
c.1130G>C (p.Ser377Thr)
n.1162G>C
c.537G>C (p.Lys179Asn)
c.1026G>C (p.Lys342Asn)
c.623G>C (p.Ser208Thr)
c.372G>C (p.Lys124Asn)
c.319+2131G>C
c.1256G>C (p.Ser419Thr)
11g.71435681C>TCA381701948DHCR7c.1122G>A (p.Lys374=)
c.948G>A (p.Lys316=)
c.1173G>A (p.Lys391=)
c.1158G>A (p.Lys386=)
c.1130G>A (p.Ser377Asn)
n.1162G>A
c.537G>A (p.Lys179=)
c.1026G>A (p.Lys342=)
c.623G>A (p.Ser208Asn)
c.372G>A (p.Lys124=)
c.319+2131G>A
c.1256G>A (p.Ser419Asn)
 gnomAD v4
11g.71435683_71435686delCA2614857186DHCR7c.1119_1122del (p.Arg373SerfsTer?)
c.945_948del (p.Arg315SerfsTer?)
c.1170_1173del (p.Arg390SerfsTer?)
c.1155_1158del (p.Arg385SerfsTer?)
c.1127_1130del (p.Gly376AlafsTer?)
n.1159_1162del
c.534_537del (p.Arg178SerfsTer?)
c.1023_1026del (p.Arg341SerfsTer?)
c.620_623del (p.Gly207AlafsTer?)
c.369_372del (p.Arg123SerfsTer?)
c.319+2128_319+2131del
c.1253_1256del (p.Gly418AlafsTer?)
 gnomAD v4
11g.71435682T>ACA381701951DHCR7c.1121A>T (p.Lys374Met)
c.947A>T (p.Lys316Met)
c.1172A>T (p.Lys391Met)
c.1157A>T (p.Lys386Met)
c.1129A>T (p.Ser377Cys)
n.1161A>T
c.536A>T (p.Lys179Met)
c.1025A>T (p.Lys342Met)
c.622A>T (p.Ser208Cys)
c.371A>T (p.Lys124Met)
c.319+2130A>T
c.1255A>T (p.Ser419Cys)
11g.71435682T>CCA381701955DHCR7c.1121A>G (p.Lys374Arg)
c.947A>G (p.Lys316Arg)
c.1172A>G (p.Lys391Arg)
c.1157A>G (p.Lys386Arg)
c.1129A>G (p.Ser377Gly)
n.1161A>G
c.536A>G (p.Lys179Arg)
c.1025A>G (p.Lys342Arg)
c.622A>G (p.Ser208Gly)
c.371A>G (p.Lys124Arg)
c.319+2130A>G
c.1255A>G (p.Ser419Gly)
11g.71435682T>GCA381701953DHCR7c.1121A>C (p.Lys374Thr)
c.947A>C (p.Lys316Thr)
c.1172A>C (p.Lys391Thr)
c.1157A>C (p.Lys386Thr)
c.1129A>C (p.Ser377Arg)
n.1161A>C
c.536A>C (p.Lys179Thr)
c.1025A>C (p.Lys342Thr)
c.622A>C (p.Ser208Arg)
c.371A>C (p.Lys124Thr)
c.319+2130A>C
c.1255A>C (p.Ser419Arg)
11g.71435683T>ACA381701957DHCR7c.1120A>T (p.Lys374Ter)
c.946A>T (p.Lys316Ter)
c.1171A>T (p.Lys391Ter)
c.1156A>T (p.Lys386Ter)
c.1128A>T (p.Gly376=)
n.1160A>T
c.535A>T (p.Lys179Ter)
c.1024A>T (p.Lys342Ter)
c.621A>T (p.Gly207=)
c.370A>T (p.Lys124Ter)
c.319+2129A>T
c.1254A>T (p.Gly418=)
11g.71435683T>CCA381701958DHCR7c.1120A>G (p.Lys374Glu)
c.946A>G (p.Lys316Glu)
c.1171A>G (p.Lys391Glu)
c.1156A>G (p.Lys386Glu)
c.1128A>G (p.Gly376=)
n.1160A>G
c.535A>G (p.Lys179Glu)
c.1024A>G (p.Lys342Glu)
c.621A>G (p.Gly207=)
c.370A>G (p.Lys124Glu)
c.319+2129A>G
c.1254A>G (p.Gly418=)
11g.71435683T>GCA381701960DHCR7c.1120A>C (p.Lys374Gln)
c.946A>C (p.Lys316Gln)
c.1171A>C (p.Lys391Gln)
c.1156A>C (p.Lys386Gln)
c.1128A>C (p.Gly376=)
n.1160A>C
c.535A>C (p.Lys179Gln)
c.1024A>C (p.Lys342Gln)
c.621A>C (p.Gly207=)
c.370A>C (p.Lys124Gln)
c.319+2129A>C
c.1254A>C (p.Gly418=)
11g.71435684C>ACA381701962DHCR7c.1119G>T (p.Arg373Ser)
c.945G>T (p.Arg315Ser)
c.1170G>T (p.Arg390Ser)
c.1155G>T (p.Arg385Ser)
c.1127G>T (p.Gly376Val)
n.1159G>T
c.534G>T (p.Arg178Ser)
c.1023G>T (p.Arg341Ser)
c.620G>T (p.Gly207Val)
c.369G>T (p.Arg123Ser)
c.319+2128G>T
c.1253G>T (p.Gly418Val)
11g.71435684C=CA1981486954DHCR7c.1119G= (p.Arg373=)
c.945G= (p.Arg315=)
c.1170G= (p.Arg390=)
c.1155G= (p.Arg385=)
c.1127G= (p.Gly376=)
n.1159G=
c.534G= (p.Arg178=)
c.1023G= (p.Arg341=)
c.620G= (p.Gly207=)
c.369G= (p.Arg123=)
c.319+2128G=
c.1253G= (p.Gly418=)
11g.71435684C>GCA381701964DHCR7c.1119G>C (p.Arg373Ser)
c.945G>C (p.Arg315Ser)
c.1170G>C (p.Arg390Ser)
c.1155G>C (p.Arg385Ser)
c.1127G>C (p.Gly376Ala)
n.1159G>C
c.534G>C (p.Arg178Ser)
c.1023G>C (p.Arg341Ser)
c.620G>C (p.Gly207Ala)
c.369G>C (p.Arg123Ser)
c.319+2128G>C
c.1253G>C (p.Gly418Ala)
11g.71435684C>TCA381701966DHCR7c.1119G>A (p.Arg373=)
c.945G>A (p.Arg315=)
c.1170G>A (p.Arg390=)
c.1155G>A (p.Arg385=)
c.1127G>A (p.Gly376Glu)
n.1159G>A
c.534G>A (p.Arg178=)
c.1023G>A (p.Arg341=)
c.620G>A (p.Gly207Glu)
c.369G>A (p.Arg123=)
c.319+2128G>A
c.1253G>A (p.Gly418Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435685C>ACA381701968DHCR7c.1118G>T (p.Arg373Met)
c.944G>T (p.Arg315Met)
c.1169G>T (p.Arg390Met)
c.1154G>T (p.Arg385Met)
c.1126G>T (p.Gly376Ter)
n.1158G>T
c.533G>T (p.Arg178Met)
c.1022G>T (p.Arg341Met)
c.619G>T (p.Gly207Ter)
c.368G>T (p.Arg123Met)
c.319+2127G>T
c.1252G>T (p.Gly418Ter)
 COSMIC COSMIC
11g.71435685C>GCA381701970DHCR7c.1118G>C (p.Arg373Thr)
c.944G>C (p.Arg315Thr)
c.1169G>C (p.Arg390Thr)
c.1154G>C (p.Arg385Thr)
c.1126G>C (p.Gly376Arg)
n.1158G>C
c.533G>C (p.Arg178Thr)
c.1022G>C (p.Arg341Thr)
c.619G>C (p.Gly207Arg)
c.368G>C (p.Arg123Thr)
c.319+2127G>C
c.1252G>C (p.Gly418Arg)
11g.71435685C>TCA381701972DHCR7c.1118G>A (p.Arg373Lys)
c.944G>A (p.Arg315Lys)
c.1169G>A (p.Arg390Lys)
c.1154G>A (p.Arg385Lys)
c.1126G>A (p.Gly376Arg)
n.1158G>A
c.533G>A (p.Arg178Lys)
c.1022G>A (p.Arg341Lys)
c.619G>A (p.Gly207Arg)
c.368G>A (p.Arg123Lys)
c.319+2127G>A
c.1252G>A (p.Gly418Arg)
 gnomAD v4
11g.71435685_71435686insGGAACA2614857187DHCR7c.1117_1118insTTCC (p.Arg373IlefsTer?)
c.943_944insTTCC (p.Arg315IlefsTer?)
c.1168_1169insTTCC (p.Arg390IlefsTer?)
c.1153_1154insTTCC (p.Arg385IlefsTer?)
c.1125_1126insTTCC (p.Gly376PhefsTer?)
n.1157_1158insTTCC
c.532_533insTTCC (p.Arg178IlefsTer?)
c.1021_1022insTTCC (p.Arg341IlefsTer?)
c.618_619insTTCC (p.Gly207PhefsTer?)
c.367_368insTTCC (p.Arg123IlefsTer?)
c.319+2126_319+2127insTTCC
c.1251_1252insTTCC (p.Gly418PhefsTer?)
 gnomAD v4
11g.71435686T>ACA381701974DHCR7c.1117A>T (p.Arg373Trp)
c.943A>T (p.Arg315Trp)
c.1168A>T (p.Arg390Trp)
c.1153A>T (p.Arg385Trp)
c.1125A>T (p.Ala375=)
n.1157A>T
c.532A>T (p.Arg178Trp)
c.1021A>T (p.Arg341Trp)
c.618A>T (p.Ala206=)
c.367A>T (p.Arg123Trp)
c.319+2126A>T
c.1251A>T (p.Ala417=)
11g.71435686T>CCA381701976DHCR7c.1117A>G (p.Arg373Gly)
c.943A>G (p.Arg315Gly)
c.1168A>G (p.Arg390Gly)
c.1153A>G (p.Arg385Gly)
c.1125A>G (p.Ala375=)
n.1157A>G
c.532A>G (p.Arg178Gly)
c.1021A>G (p.Arg341Gly)
c.618A>G (p.Ala206=)
c.367A>G (p.Arg123Gly)
c.319+2126A>G
c.1251A>G (p.Ala417=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435686T>GCA475861114DHCR7c.1117A>C (p.Arg373=)
c.943A>C (p.Arg315=)
c.1168A>C (p.Arg390=)
c.1153A>C (p.Arg385=)
c.1125A>C (p.Ala375=)
n.1157A>C
c.532A>C (p.Arg178=)
c.1021A>C (p.Arg341=)
c.618A>C (p.Ala206=)
c.367A>C (p.Arg123=)
c.319+2126A>C
c.1251A>C (p.Ala417=)
11g.71435686T=CA1981486955DHCR7c.1117A= (p.Arg373=)
c.943A= (p.Arg315=)
c.1168A= (p.Arg390=)
c.1153A= (p.Arg385=)
c.1125A= (p.Ala375=)
n.1157A=
c.532A= (p.Arg178=)
c.1021A= (p.Arg341=)
c.618A= (p.Ala206=)
c.367A= (p.Arg123=)
c.319+2126A=
c.1251A= (p.Ala417=)
11g.71435687G>ACA381701982DHCR7c.1116C>T (p.Gly372=)
c.942C>T (p.Gly314=)
c.1167C>T (p.Gly389=)
c.1152C>T (p.Gly384=)
c.1124C>T (p.Ala375Val)
n.1156C>T
c.531C>T (p.Gly177=)
c.1020C>T (p.Gly340=)
c.617C>T (p.Ala206Val)
c.366C>T (p.Gly122=)
c.319+2125C>T
c.1250C>T (p.Ala417Val)
11g.71435687G>CCA381701980DHCR7c.1116C>G (p.Gly372=)
c.942C>G (p.Gly314=)
c.1167C>G (p.Gly389=)
c.1152C>G (p.Gly384=)
c.1124C>G (p.Ala375Gly)
n.1156C>G
c.531C>G (p.Gly177=)
c.1020C>G (p.Gly340=)
c.617C>G (p.Ala206Gly)
c.366C>G (p.Gly122=)
c.319+2125C>G
c.1250C>G (p.Ala417Gly)
11g.71435687G>TCA381701978DHCR7c.1116C>A (p.Gly372=)
c.942C>A (p.Gly314=)
c.1167C>A (p.Gly389=)
c.1152C>A (p.Gly384=)
c.1124C>A (p.Ala375Glu)
n.1156C>A
c.531C>A (p.Gly177=)
c.1020C>A (p.Gly340=)
c.617C>A (p.Ala206Glu)
c.366C>A (p.Gly122=)
c.319+2125C>A
c.1250C>A (p.Ala417Glu)
11g.71435688C>ACA381701985DHCR7c.1115G>T (p.Gly372Val)
c.941G>T (p.Gly314Val)
c.1166G>T (p.Gly389Val)
c.1151G>T (p.Gly384Val)
c.1123G>T (p.Ala375Ser)
n.1155G>T
c.530G>T (p.Gly177Val)
c.1019G>T (p.Gly340Val)
c.616G>T (p.Ala206Ser)
c.365G>T (p.Gly122Val)
c.319+2124G>T
c.1249G>T (p.Ala417Ser)
11g.71435688C=CA1981486956DHCR7c.1115G= (p.Gly372=)
c.941G= (p.Gly314=)
c.1166G= (p.Gly389=)
c.1151G= (p.Gly384=)
c.1123G= (p.Ala375=)
n.1155G=
c.530G= (p.Gly177=)
c.1019G= (p.Gly340=)
c.616G= (p.Ala206=)
c.365G= (p.Gly122=)
c.319+2124G=
c.1249G= (p.Ala417=)
11g.71435688C>GCA381701986DHCR7c.1115G>C (p.Gly372Ala)
c.941G>C (p.Gly314Ala)
c.1166G>C (p.Gly389Ala)
c.1151G>C (p.Gly384Ala)
c.1123G>C (p.Ala375Pro)
n.1155G>C
c.530G>C (p.Gly177Ala)
c.1019G>C (p.Gly340Ala)
c.616G>C (p.Ala206Pro)
c.365G>C (p.Gly122Ala)
c.319+2124G>C
c.1249G>C (p.Ala417Pro)
11g.71435688C>TCA381701987DHCR7c.1115G>A (p.Gly372Asp)
c.941G>A (p.Gly314Asp)
c.1166G>A (p.Gly389Asp)
c.1151G>A (p.Gly384Asp)
c.1123G>A (p.Ala375Thr)
n.1155G>A
c.530G>A (p.Gly177Asp)
c.1019G>A (p.Gly340Asp)
c.616G>A (p.Ala206Thr)
c.365G>A (p.Gly122Asp)
c.319+2124G>A
c.1249G>A (p.Ala417Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435689C>ACA6162311DHCR7c.1114G>T (p.Gly372Cys)
c.940G>T (p.Gly314Cys)
c.1165G>T (p.Gly389Cys)
c.1150G>T (p.Gly384Cys)
c.1122G>T (p.Gly374=)
n.1154G>T
c.529G>T (p.Gly177Cys)
c.1018G>T (p.Gly340Cys)
c.615G>T (p.Gly205=)
c.364G>T (p.Gly122Cys)
c.319+2123G>T
c.1248G>T (p.Gly416=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435689C=CA1981486957DHCR7c.1114G= (p.Gly372=)
c.940G= (p.Gly314=)
c.1165G= (p.Gly389=)
c.1150G= (p.Gly384=)
c.1122G= (p.Gly374=)
n.1154G=
c.529G= (p.Gly177=)
c.1018G= (p.Gly340=)
c.615G= (p.Gly205=)
c.364G= (p.Gly122=)
c.319+2123G=
c.1248G= (p.Gly416=)
11g.71435689C>GCA381701988DHCR7c.1114G>C (p.Gly372Arg)
c.940G>C (p.Gly314Arg)
c.1165G>C (p.Gly389Arg)
c.1150G>C (p.Gly384Arg)
c.1122G>C (p.Gly374=)
n.1154G>C
c.529G>C (p.Gly177Arg)
c.1018G>C (p.Gly340Arg)
c.615G>C (p.Gly205=)
c.364G>C (p.Gly122Arg)
c.319+2123G>C
c.1248G>C (p.Gly416=)
 dbSNP gnomAD v3 gnomAD v4
11g.71435689C>TCA381701989DHCR7c.1114G>A (p.Gly372Ser)
c.940G>A (p.Gly314Ser)
c.1165G>A (p.Gly389Ser)
c.1150G>A (p.Gly384Ser)
c.1122G>A (p.Gly374=)
n.1154G>A
c.529G>A (p.Gly177Ser)
c.1018G>A (p.Gly340Ser)
c.615G>A (p.Gly205=)
c.364G>A (p.Gly122Ser)
c.319+2123G>A
c.1248G>A (p.Gly416=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435690C>ACA381701990DHCR7c.1113G>T (p.Trp371Cys)
c.939G>T (p.Trp313Cys)
c.1164G>T (p.Trp388Cys)
c.1149G>T (p.Trp383Cys)
c.1121G>T (p.Gly374Val)
n.1153G>T
c.528G>T (p.Trp176Cys)
c.1017G>T (p.Trp339Cys)
c.614G>T (p.Gly205Val)
c.363G>T (p.Trp121Cys)
c.319+2122G>T
c.1247G>T (p.Gly416Val)
11g.71435690C=CA1981486958DHCR7c.1113G= (p.Trp371=)
c.939G= (p.Trp313=)
c.1164G= (p.Trp388=)
c.1149G= (p.Trp383=)
c.1121G= (p.Gly374=)
n.1153G=
c.528G= (p.Trp176=)
c.1017G= (p.Trp339=)
c.614G= (p.Gly205=)
c.363G= (p.Trp121=)
c.319+2122G=
c.1247G= (p.Gly416=)
11g.71435690C>GCA381701991DHCR7c.1113G>C (p.Trp371Cys)
c.939G>C (p.Trp313Cys)
c.1164G>C (p.Trp388Cys)
c.1149G>C (p.Trp383Cys)
c.1121G>C (p.Gly374Ala)
n.1153G>C
c.528G>C (p.Trp176Cys)
c.1017G>C (p.Trp339Cys)
c.614G>C (p.Gly205Ala)
c.363G>C (p.Trp121Cys)
c.319+2122G>C
c.1247G>C (p.Gly416Ala)
11g.71435690C>TCA381701992DHCR7c.1113G>A (p.Trp371Ter)
c.939G>A (p.Trp313Ter)
c.1164G>A (p.Trp388Ter)
c.1149G>A (p.Trp383Ter)
c.1121G>A (p.Gly374Glu)
n.1153G>A
c.528G>A (p.Trp176Ter)
c.1017G>A (p.Trp339Ter)
c.614G>A (p.Gly205Glu)
c.363G>A (p.Trp121Ter)
c.319+2122G>A
c.1247G>A (p.Gly416Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435691C>ACA381701999DHCR7c.1112G>T (p.Trp371Leu)
c.938G>T (p.Trp313Leu)
c.1163G>T (p.Trp388Leu)
c.1148G>T (p.Trp383Leu)
c.1120G>T (p.Gly374Trp)
n.1152G>T
c.527G>T (p.Trp176Leu)
c.1016G>T (p.Trp339Leu)
c.613G>T (p.Gly205Trp)
c.362G>T (p.Trp121Leu)
c.319+2121G>T
c.1246G>T (p.Gly416Trp)
11g.71435691C=CA1981486959DHCR7c.1112G= (p.Trp371=)
c.938G= (p.Trp313=)
c.1163G= (p.Trp388=)
c.1148G= (p.Trp383=)
c.1120G= (p.Gly374=)
n.1152G=
c.527G= (p.Trp176=)
c.1016G= (p.Trp339=)
c.613G= (p.Gly205=)
c.362G= (p.Trp121=)
c.319+2121G=
c.1246G= (p.Gly416=)
11g.71435691C>GCA381702001DHCR7c.1112G>C (p.Trp371Ser)
c.938G>C (p.Trp313Ser)
c.1163G>C (p.Trp388Ser)
c.1148G>C (p.Trp383Ser)
c.1120G>C (p.Gly374Arg)
n.1152G>C
c.527G>C (p.Trp176Ser)
c.1016G>C (p.Trp339Ser)
c.613G>C (p.Gly205Arg)
c.362G>C (p.Trp121Ser)
c.319+2121G>C
c.1246G>C (p.Gly416Arg)
11g.71435691C>TCA381702003DHCR7c.1112G>A (p.Trp371Ter)
c.938G>A (p.Trp313Ter)
c.1163G>A (p.Trp388Ter)
c.1148G>A (p.Trp383Ter)
c.1120G>A (p.Gly374Arg)
n.1152G>A
c.527G>A (p.Trp176Ter)
c.1016G>A (p.Trp339Ter)
c.613G>A (p.Gly205Arg)
c.362G>A (p.Trp121Ter)
c.319+2121G>A
c.1246G>A (p.Gly416Arg)
 ClinVar dbSNP
11g.71435692A=CA1981486960DHCR7c.1111T= (p.Trp371=)
c.937T= (p.Trp313=)
c.1162T= (p.Trp388=)
c.1147T= (p.Trp383=)
c.1119T= (p.Ser373=)
n.1151T=
c.526T= (p.Trp176=)
c.1015T= (p.Trp339=)
c.612T= (p.Ser204=)
c.361T= (p.Trp121=)
c.319+2120T=
c.1245T= (p.Ser415=)
11g.71435692A>CCA381702004DHCR7c.1111T>G (p.Trp371Gly)
c.937T>G (p.Trp313Gly)
c.1162T>G (p.Trp388Gly)
c.1147T>G (p.Trp383Gly)
c.1119T>G (p.Ser373=)
n.1151T>G
c.526T>G (p.Trp176Gly)
c.1015T>G (p.Trp339Gly)
c.612T>G (p.Ser204=)
c.361T>G (p.Trp121Gly)
c.319+2120T>G
c.1245T>G (p.Ser415=)
11g.71435692A>GCA381702006DHCR7c.1111T>C (p.Trp371Arg)
c.937T>C (p.Trp313Arg)
c.1162T>C (p.Trp388Arg)
c.1147T>C (p.Trp383Arg)
c.1119T>C (p.Ser373=)
n.1151T>C
c.526T>C (p.Trp176Arg)
c.1015T>C (p.Trp339Arg)
c.612T>C (p.Ser204=)
c.361T>C (p.Trp121Arg)
c.319+2120T>C
c.1245T>C (p.Ser415=)
 dbSNP gnomAD v3 gnomAD v4
11g.71435692A>TCA381702005DHCR7c.1111T>A (p.Trp371Arg)
c.937T>A (p.Trp313Arg)
c.1162T>A (p.Trp388Arg)
c.1147T>A (p.Trp383Arg)
c.1119T>A (p.Ser373=)
n.1151T>A
c.526T>A (p.Trp176Arg)
c.1015T>A (p.Trp339Arg)
c.612T>A (p.Ser204=)
c.361T>A (p.Trp121Arg)
c.319+2120T>A
c.1245T>A (p.Ser415=)
11g.71435693G>ACA381702007DHCR7c.1110C>T (p.Ile370=)
c.936C>T (p.Ile312=)
c.1161C>T (p.Ile387=)
c.1146C>T (p.Ile382=)
c.1118C>T (p.Ser373Phe)
n.1150C>T
c.525C>T (p.Ile175=)
c.1014C>T (p.Ile338=)
c.611C>T (p.Ser204Phe)
c.360C>T (p.Ile120=)
c.319+2119C>T
c.1244C>T (p.Ser415Phe)
 ClinVar dbSNP
11g.71435693G>CCA381702009DHCR7c.1110C>G (p.Ile370Met)
c.936C>G (p.Ile312Met)
c.1161C>G (p.Ile387Met)
c.1146C>G (p.Ile382Met)
c.1118C>G (p.Ser373Cys)
n.1150C>G
c.525C>G (p.Ile175Met)
c.1014C>G (p.Ile338Met)
c.611C>G (p.Ser204Cys)
c.360C>G (p.Ile120Met)
c.319+2119C>G
c.1244C>G (p.Ser415Cys)
 gnomAD v4
11g.71435693G>TCA381702008DHCR7c.1110C>A (p.Ile370=)
c.936C>A (p.Ile312=)
c.1161C>A (p.Ile387=)
c.1146C>A (p.Ile382=)
c.1118C>A (p.Ser373Tyr)
n.1150C>A
c.525C>A (p.Ile175=)
c.1014C>A (p.Ile338=)
c.611C>A (p.Ser204Tyr)
c.360C>A (p.Ile120=)
c.319+2119C>A
c.1244C>A (p.Ser415Tyr)
11g.71435694A=CA1981486961DHCR7c.1109T= (p.Ile370=)
c.935T= (p.Ile312=)
c.1160T= (p.Ile387=)
c.1145T= (p.Ile382=)
c.1117T= (p.Ser373=)
n.1149T=
c.524T= (p.Ile175=)
c.1013T= (p.Ile338=)
c.610T= (p.Ser204=)
c.359T= (p.Ile120=)
c.319+2118T=
c.1243T= (p.Ser415=)
11g.71435694A>CCA381702010DHCR7c.1109T>G (p.Ile370Ser)
c.935T>G (p.Ile312Ser)
c.1160T>G (p.Ile387Ser)
c.1145T>G (p.Ile382Ser)
c.1117T>G (p.Ser373Ala)
n.1149T>G
c.524T>G (p.Ile175Ser)
c.1013T>G (p.Ile338Ser)
c.610T>G (p.Ser204Ala)
c.359T>G (p.Ile120Ser)
c.319+2118T>G
c.1243T>G (p.Ser415Ala)
11g.71435694A>GCA381702011DHCR7c.1109T>C (p.Ile370Thr)
c.935T>C (p.Ile312Thr)
c.1160T>C (p.Ile387Thr)
c.1145T>C (p.Ile382Thr)
c.1117T>C (p.Ser373Pro)
n.1149T>C
c.524T>C (p.Ile175Thr)
c.1013T>C (p.Ile338Thr)
c.610T>C (p.Ser204Pro)
c.359T>C (p.Ile120Thr)
c.319+2118T>C
c.1243T>C (p.Ser415Pro)
 dbSNP gnomAD v3 gnomAD v4
11g.71435694A>TCA381702012DHCR7c.1109T>A (p.Ile370Asn)
c.935T>A (p.Ile312Asn)
c.1160T>A (p.Ile387Asn)
c.1145T>A (p.Ile382Asn)
c.1117T>A (p.Ser373Thr)
n.1149T>A
c.524T>A (p.Ile175Asn)
c.1013T>A (p.Ile338Asn)
c.610T>A (p.Ser204Thr)
c.359T>A (p.Ile120Asn)
c.319+2118T>A
c.1243T>A (p.Ser415Thr)
11g.71435695T>ACA381702013DHCR7c.1108A>T (p.Ile370Phe)
c.934A>T (p.Ile312Phe)
c.1159A>T (p.Ile387Phe)
c.1144A>T (p.Ile382Phe)
c.1116A>T (p.Ser372=)
n.1148A>T
c.523A>T (p.Ile175Phe)
c.1012A>T (p.Ile338Phe)
c.609A>T (p.Ser203=)
c.358A>T (p.Ile120Phe)
c.319+2117A>T
c.1242A>T (p.Ser414=)
 dbSNP gnomAD v4
11g.71435695T>CCA381702014DHCR7c.1108A>G (p.Ile370Val)
c.934A>G (p.Ile312Val)
c.1159A>G (p.Ile387Val)
c.1144A>G (p.Ile382Val)
c.1116A>G (p.Ser372=)
n.1148A>G
c.523A>G (p.Ile175Val)
c.1012A>G (p.Ile338Val)
c.609A>G (p.Ser203=)
c.358A>G (p.Ile120Val)
c.319+2117A>G
c.1242A>G (p.Ser414=)
 dbSNP COSMIC COSMIC
11g.71435695T>GCA381702015DHCR7c.1108A>C (p.Ile370Leu)
c.934A>C (p.Ile312Leu)
c.1159A>C (p.Ile387Leu)
c.1144A>C (p.Ile382Leu)
c.1116A>C (p.Ser372=)
n.1148A>C
c.523A>C (p.Ile175Leu)
c.1012A>C (p.Ile338Leu)
c.609A>C (p.Ser203=)
c.358A>C (p.Ile120Leu)
c.319+2117A>C
c.1242A>C (p.Ser414=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435695T=CA1981486962DHCR7c.1108A= (p.Ile370=)
c.934A= (p.Ile312=)
c.1159A= (p.Ile387=)
c.1144A= (p.Ile382=)
c.1116A= (p.Ser372=)
n.1148A=
c.523A= (p.Ile175=)
c.1012A= (p.Ile338=)
c.609A= (p.Ser203=)
c.358A= (p.Ile120=)
c.319+2117A=
c.1242A= (p.Ser414=)
11g.71435696G>ACA381702016DHCR7c.1107C>T (p.Leu369=)
c.933C>T (p.Leu311=)
c.1158C>T (p.Leu386=)
c.1143C>T (p.Leu381=)
c.1115C>T (p.Ser372Leu)
n.1147C>T
c.522C>T (p.Leu174=)
c.1011C>T (p.Leu337=)
c.608C>T (p.Ser203Leu)
c.357C>T (p.Leu119=)
c.319+2116C>T
c.1241C>T (p.Ser414Leu)
 ClinVar dbSNP COSMIC COSMIC
11g.71435696G>CCA381702017DHCR7c.1107C>G (p.Leu369=)
c.933C>G (p.Leu311=)
c.1158C>G (p.Leu386=)
c.1143C>G (p.Leu381=)
c.1115C>G (p.Ser372Ter)
n.1147C>G
c.522C>G (p.Leu174=)
c.1011C>G (p.Leu337=)
c.608C>G (p.Ser203Ter)
c.357C>G (p.Leu119=)
c.319+2116C>G
c.1241C>G (p.Ser414Ter)
11g.71435696G=CA1981486963DHCR7c.1107C= (p.Leu369=)
c.933C= (p.Leu311=)
c.1158C= (p.Leu386=)
c.1143C= (p.Leu381=)
c.1115C= (p.Ser372=)
n.1147C=
c.522C= (p.Leu174=)
c.1011C= (p.Leu337=)
c.608C= (p.Ser203=)
c.357C= (p.Leu119=)
c.319+2116C=
c.1241C= (p.Ser414=)
11g.71435696G>TCA381702018DHCR7c.1107C>A (p.Leu369=)
c.933C>A (p.Leu311=)
c.1158C>A (p.Leu386=)
c.1143C>A (p.Leu381=)
c.1115C>A (p.Ser372Ter)
n.1147C>A
c.522C>A (p.Leu174=)
c.1011C>A (p.Leu337=)
c.608C>A (p.Ser203Ter)
c.357C>A (p.Leu119=)
c.319+2116C>A
c.1241C>A (p.Ser414Ter)
11g.71435697A>CCA381702019DHCR7c.1106T>G (p.Leu369Arg)
c.932T>G (p.Leu311Arg)
c.1157T>G (p.Leu386Arg)
c.1142T>G (p.Leu381Arg)
c.1114T>G (p.Ser372Ala)
n.1146T>G
c.521T>G (p.Leu174Arg)
c.1010T>G (p.Leu337Arg)
c.607T>G (p.Ser203Ala)
c.356T>G (p.Leu119Arg)
c.319+2115T>G
c.1240T>G (p.Ser414Ala)
11g.71435697A>GCA381702020DHCR7c.1106T>C (p.Leu369Pro)
c.932T>C (p.Leu311Pro)
c.1157T>C (p.Leu386Pro)
c.1142T>C (p.Leu381Pro)
c.1114T>C (p.Ser372Pro)
n.1146T>C
c.521T>C (p.Leu174Pro)
c.1010T>C (p.Leu337Pro)
c.607T>C (p.Ser203Pro)
c.356T>C (p.Leu119Pro)
c.319+2115T>C
c.1240T>C (p.Ser414Pro)
11g.71435697A>TCA381702021DHCR7c.1106T>A (p.Leu369His)
c.932T>A (p.Leu311His)
c.1157T>A (p.Leu386His)
c.1142T>A (p.Leu381His)
c.1114T>A (p.Ser372Thr)
n.1146T>A
c.521T>A (p.Leu174His)
c.1010T>A (p.Leu337His)
c.607T>A (p.Ser203Thr)
c.356T>A (p.Leu119His)
c.319+2115T>A
c.1240T>A (p.Ser414Thr)
11g.71435698G>ACA381702024DHCR7c.1105C>T (p.Leu369Phe)
c.931C>T (p.Leu311Phe)
c.1156C>T (p.Leu386Phe)
c.1141C>T (p.Leu381Phe)
c.1113C>T (p.Ala371=)
n.1145C>T
c.520C>T (p.Leu174Phe)
c.1009C>T (p.Leu337Phe)
c.606C>T (p.Ala202=)
c.355C>T (p.Leu119Phe)
c.319+2114C>T
c.1239C>T (p.Ala413=)
 ClinVar dbSNP
11g.71435698G>CCA381702022DHCR7c.1105C>G (p.Leu369Val)
c.931C>G (p.Leu311Val)
c.1156C>G (p.Leu386Val)
c.1141C>G (p.Leu381Val)
c.1113C>G (p.Ala371=)
n.1145C>G
c.520C>G (p.Leu174Val)
c.1009C>G (p.Leu337Val)
c.606C>G (p.Ala202=)
c.355C>G (p.Leu119Val)
c.319+2114C>G
c.1239C>G (p.Ala413=)
11g.71435698G=CA1981486964DHCR7c.1105C= (p.Leu369=)
c.931C= (p.Leu311=)
c.1156C= (p.Leu386=)
c.1141C= (p.Leu381=)
c.1113C= (p.Ala371=)
n.1145C=
c.520C= (p.Leu174=)
c.1009C= (p.Leu337=)
c.606C= (p.Ala202=)
c.355C= (p.Leu119=)
c.319+2114C=
c.1239C= (p.Ala413=)
11g.71435698G>TCA381702023DHCR7c.1105C>A (p.Leu369Ile)
c.931C>A (p.Leu311Ile)
c.1156C>A (p.Leu386Ile)
c.1141C>A (p.Leu381Ile)
c.1113C>A (p.Ala371=)
n.1145C>A
c.520C>A (p.Leu174Ile)
c.1009C>A (p.Leu337Ile)
c.606C>A (p.Ala202=)
c.355C>A (p.Leu119Ile)
c.319+2114C>A
c.1239C>A (p.Ala413=)
11g.71435699G>ACA381702025DHCR7c.1104C>T (p.Cys368=)
c.930C>T (p.Cys310=)
c.1155C>T (p.Cys385=)
c.1140C>T (p.Cys380=)
c.1112C>T (p.Ala371Val)
n.1144C>T
c.519C>T (p.Cys173=)
c.1008C>T (p.Cys336=)
c.605C>T (p.Ala202Val)
c.354C>T (p.Cys118=)
c.319+2113C>T
c.1238C>T (p.Ala413Val)
11g.71435699G>CCA381702026DHCR7c.1104C>G (p.Cys368Trp)
c.930C>G (p.Cys310Trp)
c.1155C>G (p.Cys385Trp)
c.1140C>G (p.Cys380Trp)
c.1112C>G (p.Ala371Gly)
n.1144C>G
c.519C>G (p.Cys173Trp)
c.1008C>G (p.Cys336Trp)
c.605C>G (p.Ala202Gly)
c.354C>G (p.Cys118Trp)
c.319+2113C>G
c.1238C>G (p.Ala413Gly)
11g.71435699G>TCA381702027DHCR7c.1104C>A (p.Cys368Ter)
c.930C>A (p.Cys310Ter)
c.1155C>A (p.Cys385Ter)
c.1140C>A (p.Cys380Ter)
c.1112C>A (p.Ala371Asp)
n.1144C>A
c.519C>A (p.Cys173Ter)
c.1008C>A (p.Cys336Ter)
c.605C>A (p.Ala202Asp)
c.354C>A (p.Cys118Ter)
c.319+2113C>A
c.1238C>A (p.Ala413Asp)
11g.71435700C>ACA381702028DHCR7c.1103G>T (p.Cys368Phe)
c.929G>T (p.Cys310Phe)
c.1154G>T (p.Cys385Phe)
c.1139G>T (p.Cys380Phe)
c.1111G>T (p.Ala371Ser)
n.1143G>T
c.518G>T (p.Cys173Phe)
c.1007G>T (p.Cys336Phe)
c.604G>T (p.Ala202Ser)
c.353G>T (p.Cys118Phe)
c.319+2112G>T
c.1237G>T (p.Ala413Ser)
11g.71435700C>GCA381702029DHCR7c.1103G>C (p.Cys368Ser)
c.929G>C (p.Cys310Ser)
c.1154G>C (p.Cys385Ser)
c.1139G>C (p.Cys380Ser)
c.1111G>C (p.Ala371Pro)
n.1143G>C
c.518G>C (p.Cys173Ser)
c.1007G>C (p.Cys336Ser)
c.604G>C (p.Ala202Pro)
c.353G>C (p.Cys118Ser)
c.319+2112G>C
c.1237G>C (p.Ala413Pro)
11g.71435700C>TCA381702030DHCR7c.1103G>A (p.Cys368Tyr)
c.929G>A (p.Cys310Tyr)
c.1154G>A (p.Cys385Tyr)
c.1139G>A (p.Cys380Tyr)
c.1111G>A (p.Ala371Thr)
n.1143G>A
c.518G>A (p.Cys173Tyr)
c.1007G>A (p.Cys336Tyr)
c.604G>A (p.Ala202Thr)
c.353G>A (p.Cys118Tyr)
c.319+2112G>A
c.1237G>A (p.Ala413Thr)
11g.71435701A=CA1981486965DHCR7c.1102T= (p.Cys368=)
c.928T= (p.Cys310=)
c.1153T= (p.Cys385=)
c.1138T= (p.Cys380=)
c.1110T= (p.Ala370=)
n.1142T=
c.517T= (p.Cys173=)
c.1006T= (p.Cys336=)
c.603T= (p.Ala201=)
c.352T= (p.Cys118=)
c.319+2111T=
c.1236T= (p.Ala412=)
11g.71435701A>CCA381702031DHCR7c.1102T>G (p.Cys368Gly)
c.928T>G (p.Cys310Gly)
c.1153T>G (p.Cys385Gly)
c.1138T>G (p.Cys380Gly)
c.1110T>G (p.Ala370=)
n.1142T>G
c.517T>G (p.Cys173Gly)
c.1006T>G (p.Cys336Gly)
c.603T>G (p.Ala201=)
c.352T>G (p.Cys118Gly)
c.319+2111T>G
c.1236T>G (p.Ala412=)
11g.71435701A>GCA381702032DHCR7c.1102T>C (p.Cys368Arg)
c.928T>C (p.Cys310Arg)
c.1153T>C (p.Cys385Arg)
c.1138T>C (p.Cys380Arg)
c.1110T>C (p.Ala370=)
n.1142T>C
c.517T>C (p.Cys173Arg)
c.1006T>C (p.Cys336Arg)
c.603T>C (p.Ala201=)
c.352T>C (p.Cys118Arg)
c.319+2111T>C
c.1236T>C (p.Ala412=)
 dbSNP
11g.71435701A>TCA381702033DHCR7c.1102T>A (p.Cys368Ser)
c.928T>A (p.Cys310Ser)
c.1153T>A (p.Cys385Ser)
c.1138T>A (p.Cys380Ser)
c.1110T>A (p.Ala370=)
n.1142T>A
c.517T>A (p.Cys173Ser)
c.1006T>A (p.Cys336Ser)
c.603T>A (p.Ala201=)
c.352T>A (p.Cys118Ser)
c.319+2111T>A
c.1236T>A (p.Ala412=)
11g.71435702G>ACA381702034DHCR7c.1101C>T (p.Arg367=)
c.927C>T (p.Arg309=)
c.1152C>T (p.Arg384=)
c.1137C>T (p.Arg379=)
c.1109C>T (p.Ala370Val)
n.1141C>T
c.516C>T (p.Arg172=)
c.1005C>T (p.Arg335=)
c.602C>T (p.Ala201Val)
c.351C>T (p.Arg117=)
c.319+2110C>T
c.1235C>T (p.Ala412Val)
 dbSNP
11g.71435702G>CCA381702035DHCR7c.1101C>G (p.Arg367=)
c.927C>G (p.Arg309=)
c.1152C>G (p.Arg384=)
c.1137C>G (p.Arg379=)
c.1109C>G (p.Ala370Gly)
n.1141C>G
c.516C>G (p.Arg172=)
c.1005C>G (p.Arg335=)
c.602C>G (p.Ala201Gly)
c.351C>G (p.Arg117=)
c.319+2110C>G
c.1235C>G (p.Ala412Gly)
11g.71435702G=CA1981486966DHCR7c.1101C= (p.Arg367=)
c.927C= (p.Arg309=)
c.1152C= (p.Arg384=)
c.1137C= (p.Arg379=)
c.1109C= (p.Ala370=)
n.1141C=
c.516C= (p.Arg172=)
c.1005C= (p.Arg335=)
c.602C= (p.Ala201=)
c.351C= (p.Arg117=)
c.319+2110C=
c.1235C= (p.Ala412=)
11g.71435702G>TCA381702036DHCR7c.1101C>A (p.Arg367=)
c.927C>A (p.Arg309=)
c.1152C>A (p.Arg384=)
c.1137C>A (p.Arg379=)
c.1109C>A (p.Ala370Asp)
n.1141C>A
c.516C>A (p.Arg172=)
c.1005C>A (p.Arg335=)
c.602C>A (p.Ala201Asp)
c.351C>A (p.Arg117=)
c.319+2110C>A
c.1235C>A (p.Ala412Asp)
11g.71435703C>ACA381702038DHCR7c.1100G>T (p.Arg367Leu)
c.926G>T (p.Arg309Leu)
c.1151G>T (p.Arg384Leu)
c.1136G>T (p.Arg379Leu)
c.1108G>T (p.Ala370Ser)
n.1140G>T
c.515G>T (p.Arg172Leu)
c.1004G>T (p.Arg335Leu)
c.601G>T (p.Ala201Ser)
c.350G>T (p.Arg117Leu)
c.319+2109G>T
c.1234G>T (p.Ala412Ser)
11g.71435703C=CA1981486967DHCR7c.1100G= (p.Arg367=)
c.926G= (p.Arg309=)
c.1151G= (p.Arg384=)
c.1136G= (p.Arg379=)
c.1108G= (p.Ala370=)
n.1140G=
c.515G= (p.Arg172=)
c.1004G= (p.Arg335=)
c.601G= (p.Ala201=)
c.350G= (p.Arg117=)
c.319+2109G=
c.1234G= (p.Ala412=)
11g.71435703C>GCA381702037DHCR7c.1100G>C (p.Arg367Pro)
c.926G>C (p.Arg309Pro)
c.1151G>C (p.Arg384Pro)
c.1136G>C (p.Arg379Pro)
c.1108G>C (p.Ala370Pro)
n.1140G>C
c.515G>C (p.Arg172Pro)
c.1004G>C (p.Arg335Pro)
c.601G>C (p.Ala201Pro)
c.350G>C (p.Arg117Pro)
c.319+2109G>C
c.1234G>C (p.Ala412Pro)
11g.71435703C>TCA6162312DHCR7c.1100G>A (p.Arg367His)
c.926G>A (p.Arg309His)
c.1151G>A (p.Arg384His)
c.1136G>A (p.Arg379His)
c.1108G>A (p.Ala370Thr)
n.1140G>A
c.515G>A (p.Arg172His)
c.1004G>A (p.Arg335His)
c.601G>A (p.Ala201Thr)
c.350G>A (p.Arg117His)
c.319+2109G>A
c.1234G>A (p.Ala412Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435704G>ACA6162313DHCR7c.1099C>T (p.Arg367Cys)
c.925C>T (p.Arg309Cys)
c.1150C>T (p.Arg384Cys)
c.1135C>T (p.Arg379Cys)
c.1107C>T (p.Gly369=)
n.1139C>T
c.514C>T (p.Arg172Cys)
c.1003C>T (p.Arg335Cys)
c.600C>T (p.Gly200=)
c.349C>T (p.Arg117Cys)
c.319+2108C>T
c.1233C>T (p.Gly411=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435704G>CCA381702039DHCR7c.1099C>G (p.Arg367Gly)
c.925C>G (p.Arg309Gly)
c.1150C>G (p.Arg384Gly)
c.1135C>G (p.Arg379Gly)
c.1107C>G (p.Gly369=)
n.1139C>G
c.514C>G (p.Arg172Gly)
c.1003C>G (p.Arg335Gly)
c.600C>G (p.Gly200=)
c.349C>G (p.Arg117Gly)
c.319+2108C>G
c.1233C>G (p.Gly411=)
11g.71435704G=CA1981486968DHCR7c.1099C= (p.Arg367=)
c.925C= (p.Arg309=)
c.1150C= (p.Arg384=)
c.1135C= (p.Arg379=)
c.1107C= (p.Gly369=)
n.1139C=
c.514C= (p.Arg172=)
c.1003C= (p.Arg335=)
c.600C= (p.Gly200=)
c.349C= (p.Arg117=)
c.319+2108C=
c.1233C= (p.Gly411=)
11g.71435704G>TCA381702040DHCR7c.1099C>A (p.Arg367Ser)
c.925C>A (p.Arg309Ser)
c.1150C>A (p.Arg384Ser)
c.1135C>A (p.Arg379Ser)
c.1107C>A (p.Gly369=)
n.1139C>A
c.514C>A (p.Arg172Ser)
c.1003C>A (p.Arg335Ser)
c.600C>A (p.Gly200=)
c.349C>A (p.Arg117Ser)
c.319+2108C>A
c.1233C>A (p.Gly411=)
11g.71435705C>ACA381702041DHCR7c.1098G>T (p.Gly366=)
c.924G>T (p.Gly308=)
c.1149G>T (p.Gly383=)
c.1134G>T (p.Gly378=)
c.1106G>T (p.Gly369Val)
n.1138G>T
c.513G>T (p.Gly171=)
c.1002G>T (p.Gly334=)
c.599G>T (p.Gly200Val)
c.348G>T (p.Gly116=)
c.319+2107G>T
c.1232G>T (p.Gly411Val)
11g.71435705C>GCA381702042DHCR7c.1098G>C (p.Gly366=)
c.924G>C (p.Gly308=)
c.1149G>C (p.Gly383=)
c.1134G>C (p.Gly378=)
c.1106G>C (p.Gly369Ala)
n.1138G>C
c.513G>C (p.Gly171=)
c.1002G>C (p.Gly334=)
c.599G>C (p.Gly200Ala)
c.348G>C (p.Gly116=)
c.319+2107G>C
c.1232G>C (p.Gly411Ala)
11g.71435705C>TCA381702043DHCR7c.1098G>A (p.Gly366=)
c.924G>A (p.Gly308=)
c.1149G>A (p.Gly383=)
c.1134G>A (p.Gly378=)
c.1106G>A (p.Gly369Asp)
n.1138G>A
c.513G>A (p.Gly171=)
c.1002G>A (p.Gly334=)
c.599G>A (p.Gly200Asp)
c.348G>A (p.Gly116=)
c.319+2107G>A
c.1232G>A (p.Gly411Asp)
 ClinVar dbSNP
11g.71435706C>ACA381702049DHCR7c.1097G>T (p.Gly366Val)
c.923G>T (p.Gly308Val)
c.1148G>T (p.Gly383Val)
c.1133G>T (p.Gly378Val)
c.1105G>T (p.Gly369Cys)
n.1137G>T
c.512G>T (p.Gly171Val)
c.1001G>T (p.Gly334Val)
c.598G>T (p.Gly200Cys)
c.347G>T (p.Gly116Val)
c.319+2106G>T
c.1231G>T (p.Gly411Cys)
 ClinVar dbSNP
11g.71435706C=CA1981486969DHCR7c.1097G= (p.Gly366=)
c.923G= (p.Gly308=)
c.1148G= (p.Gly383=)
c.1133G= (p.Gly378=)
c.1105G= (p.Gly369=)
n.1137G=
c.512G= (p.Gly171=)
c.1001G= (p.Gly334=)
c.598G= (p.Gly200=)
c.347G= (p.Gly116=)
c.319+2106G=
c.1231G= (p.Gly411=)
11g.71435706C>GCA381702047DHCR7c.1097G>C (p.Gly366Ala)
c.923G>C (p.Gly308Ala)
c.1148G>C (p.Gly383Ala)
c.1133G>C (p.Gly378Ala)
c.1105G>C (p.Gly369Arg)
n.1137G>C
c.512G>C (p.Gly171Ala)
c.1001G>C (p.Gly334Ala)
c.598G>C (p.Gly200Arg)
c.347G>C (p.Gly116Ala)
c.319+2106G>C
c.1231G>C (p.Gly411Arg)
11g.71435706C>TCA381702045DHCR7c.1097G>A (p.Gly366Glu)
c.923G>A (p.Gly308Glu)
c.1148G>A (p.Gly383Glu)
c.1133G>A (p.Gly378Glu)
c.1105G>A (p.Gly369Ser)
n.1137G>A
c.512G>A (p.Gly171Glu)
c.1001G>A (p.Gly334Glu)
c.598G>A (p.Gly200Ser)
c.347G>A (p.Gly116Glu)
c.319+2106G>A
c.1231G>A (p.Gly411Ser)
11g.71435707C>ACA381702050DHCR7c.1096G>T (p.Gly366Trp)
c.922G>T (p.Gly308Trp)
c.1147G>T (p.Gly383Trp)
c.1132G>T (p.Gly378Trp)
c.1104G>T (p.Met368Ile)
n.1136G>T
c.511G>T (p.Gly171Trp)
c.1000G>T (p.Gly334Trp)
c.597G>T (p.Met199Ile)
c.346G>T (p.Gly116Trp)
c.319+2105G>T
c.1230G>T (p.Met410Ile)
11g.71435707C=CA1981486970DHCR7c.1096G= (p.Gly366=)
c.922G= (p.Gly308=)
c.1147G= (p.Gly383=)
c.1132G= (p.Gly378=)
c.1104G= (p.Met368=)
n.1136G=
c.511G= (p.Gly171=)
c.1000G= (p.Gly334=)
c.597G= (p.Met199=)
c.346G= (p.Gly116=)
c.319+2105G=
c.1230G= (p.Met410=)
11g.71435707C>GCA381702051DHCR7c.1096G>C (p.Gly366Arg)
c.922G>C (p.Gly308Arg)
c.1147G>C (p.Gly383Arg)
c.1132G>C (p.Gly378Arg)
c.1104G>C (p.Met368Ile)
n.1136G>C
c.511G>C (p.Gly171Arg)
c.1000G>C (p.Gly334Arg)
c.597G>C (p.Met199Ile)
c.346G>C (p.Gly116Arg)
c.319+2105G>C
c.1230G>C (p.Met410Ile)
 gnomAD v4
11g.71435707C>TCA224324413DHCR7c.1096G>A (p.Gly366Arg)
c.922G>A (p.Gly308Arg)
c.1147G>A (p.Gly383Arg)
c.1132G>A (p.Gly378Arg)
c.1104G>A (p.Met368Ile)
n.1136G>A
c.511G>A (p.Gly171Arg)
c.1000G>A (p.Gly334Arg)
c.597G>A (p.Met199Ile)
c.346G>A (p.Gly116Arg)
c.319+2105G>A
c.1230G>A (p.Met410Ile)
 dbSNP
11g.71435708A>CCA381702053DHCR7c.1095T>G (p.Asp365Glu)
c.921T>G (p.Asp307Glu)
c.1146T>G (p.Asp382Glu)
c.1131T>G (p.Asp377Glu)
c.1103T>G (p.Met368Arg)
n.1135T>G
c.510T>G (p.Asp170Glu)
c.999T>G (p.Asp333Glu)
c.596T>G (p.Met199Arg)
c.345T>G (p.Asp115Glu)
c.319+2104T>G
c.1229T>G (p.Met410Arg)
11g.71435708A>GCA381702054DHCR7c.1095T>C (p.Asp365=)
c.921T>C (p.Asp307=)
c.1146T>C (p.Asp382=)
c.1131T>C (p.Asp377=)
c.1103T>C (p.Met368Thr)
n.1135T>C
c.510T>C (p.Asp170=)
c.999T>C (p.Asp333=)
c.596T>C (p.Met199Thr)
c.345T>C (p.Asp115=)
c.319+2104T>C
c.1229T>C (p.Met410Thr)
11g.71435708A>TCA381702055DHCR7c.1095T>A (p.Asp365Glu)
c.921T>A (p.Asp307Glu)
c.1146T>A (p.Asp382Glu)
c.1131T>A (p.Asp377Glu)
c.1103T>A (p.Met368Lys)
n.1135T>A
c.510T>A (p.Asp170Glu)
c.999T>A (p.Asp333Glu)
c.596T>A (p.Met199Lys)
c.345T>A (p.Asp115Glu)
c.319+2104T>A
c.1229T>A (p.Met410Lys)
11g.71435709T>ACA381702057DHCR7c.1094A>T (p.Asp365Val)
c.920A>T (p.Asp307Val)
c.1145A>T (p.Asp382Val)
c.1130A>T (p.Asp377Val)
c.1102A>T (p.Met368Leu)
n.1134A>T
c.509A>T (p.Asp170Val)
c.998A>T (p.Asp333Val)
c.595A>T (p.Met199Leu)
c.344A>T (p.Asp115Val)
c.319+2103A>T
c.1228A>T (p.Met410Leu)
11g.71435709T>CCA224324426DHCR7c.1094A>G (p.Asp365Gly)
c.920A>G (p.Asp307Gly)
c.1145A>G (p.Asp382Gly)
c.1130A>G (p.Asp377Gly)
c.1102A>G (p.Met368Val)
n.1134A>G
c.509A>G (p.Asp170Gly)
c.998A>G (p.Asp333Gly)
c.595A>G (p.Met199Val)
c.344A>G (p.Asp115Gly)
c.319+2103A>G
c.1228A>G (p.Met410Val)
 dbSNP gnomAD v4
11g.71435709T>GCA381702058DHCR7c.1094A>C (p.Asp365Ala)
c.920A>C (p.Asp307Ala)
c.1145A>C (p.Asp382Ala)
c.1130A>C (p.Asp377Ala)
c.1102A>C (p.Met368Leu)
n.1134A>C
c.509A>C (p.Asp170Ala)
c.998A>C (p.Asp333Ala)
c.595A>C (p.Met199Leu)
c.344A>C (p.Asp115Ala)
c.319+2103A>C
c.1228A>C (p.Met410Leu)
11g.71435709T=CA1981486971DHCR7c.1094A= (p.Asp365=)
c.920A= (p.Asp307=)
c.1145A= (p.Asp382=)
c.1130A= (p.Asp377=)
c.1102A= (p.Met368=)
n.1134A=
c.509A= (p.Asp170=)
c.998A= (p.Asp333=)
c.595A= (p.Met199=)
c.344A= (p.Asp115=)
c.319+2103A=
c.1228A= (p.Met410=)
11g.71435710C>ACA381702061DHCR7c.1093G>T (p.Asp365Tyr)
c.919G>T (p.Asp307Tyr)
c.1144G>T (p.Asp382Tyr)
c.1129G>T (p.Asp377Tyr)
c.1101G>T (p.Arg367=)
n.1133G>T
c.508G>T (p.Asp170Tyr)
c.997G>T (p.Asp333Tyr)
c.594G>T (p.Arg198=)
c.343G>T (p.Asp115Tyr)
c.319+2102G>T
c.1227G>T (p.Arg409=)
11g.71435710C>GCA381702063DHCR7c.1093G>C (p.Asp365His)
c.919G>C (p.Asp307His)
c.1144G>C (p.Asp382His)
c.1129G>C (p.Asp377His)
c.1101G>C (p.Arg367=)
n.1133G>C
c.508G>C (p.Asp170His)
c.997G>C (p.Asp333His)
c.594G>C (p.Arg198=)
c.343G>C (p.Asp115His)
c.319+2102G>C
c.1227G>C (p.Arg409=)
11g.71435710C>TCA381702064DHCR7c.1093G>A (p.Asp365Asn)
c.919G>A (p.Asp307Asn)
c.1144G>A (p.Asp382Asn)
c.1129G>A (p.Asp377Asn)
c.1101G>A (p.Arg367=)
n.1133G>A
c.508G>A (p.Asp170Asn)
c.997G>A (p.Asp333Asn)
c.594G>A (p.Arg198=)
c.343G>A (p.Asp115Asn)
c.319+2102G>A
c.1227G>A (p.Arg409=)
11g.71435711C>ACA381702065DHCR7c.1092G>T (p.Thr364=)
c.918G>T (p.Thr306=)
c.1143G>T (p.Thr381=)
c.1128G>T (p.Thr376=)
c.1100G>T (p.Arg367Leu)
n.1132G>T
c.507G>T (p.Thr169=)
c.996G>T (p.Thr332=)
c.593G>T (p.Arg198Leu)
c.342G>T (p.Thr114=)
c.319+2101G>T
c.1226G>T (p.Arg409Leu)
11g.71435711C=CA1981486972DHCR7c.1092G= (p.Thr364=)
c.918G= (p.Thr306=)
c.1143G= (p.Thr381=)
c.1128G= (p.Thr376=)
c.1100G= (p.Arg367=)
n.1132G=
c.507G= (p.Thr169=)
c.996G= (p.Thr332=)
c.593G= (p.Arg198=)
c.342G= (p.Thr114=)
c.319+2101G=
c.1226G= (p.Arg409=)
11g.71435711C>GCA381702068DHCR7c.1092G>C (p.Thr364=)
c.918G>C (p.Thr306=)
c.1143G>C (p.Thr381=)
c.1128G>C (p.Thr376=)
c.1100G>C (p.Arg367Pro)
n.1132G>C
c.507G>C (p.Thr169=)
c.996G>C (p.Thr332=)
c.593G>C (p.Arg198Pro)
c.342G>C (p.Thr114=)
c.319+2101G>C
c.1226G>C (p.Arg409Pro)
11g.71435711C>TCA179963DHCR7c.1092G>A (p.Thr364=)
c.918G>A (p.Thr306=)
c.1143G>A (p.Thr381=)
c.1128G>A (p.Thr376=)
c.1100G>A (p.Arg367Gln)
n.1132G>A
c.507G>A (p.Thr169=)
c.996G>A (p.Thr332=)
c.593G>A (p.Arg198Gln)
c.342G>A (p.Thr114=)
c.319+2101G>A
c.1226G>A (p.Arg409Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435712G>ACA6162314DHCR7c.1091C>T (p.Thr364Met)
c.917C>T (p.Thr306Met)
c.1142C>T (p.Thr381Met)
c.1127C>T (p.Thr376Met)
c.1099C>T (p.Arg367Trp)
n.1131C>T
c.506C>T (p.Thr169Met)
c.995C>T (p.Thr332Met)
c.592C>T (p.Arg198Trp)
c.341C>T (p.Thr114Met)
c.319+2100C>T
c.1225C>T (p.Arg409Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435712G>CCA381702071DHCR7c.1091C>G (p.Thr364Arg)
c.917C>G (p.Thr306Arg)
c.1142C>G (p.Thr381Arg)
c.1127C>G (p.Thr376Arg)
c.1099C>G (p.Arg367Gly)
n.1131C>G
c.506C>G (p.Thr169Arg)
c.995C>G (p.Thr332Arg)
c.592C>G (p.Arg198Gly)
c.341C>G (p.Thr114Arg)
c.319+2100C>G
c.1225C>G (p.Arg409Gly)
11g.71435712G=CA1981486973DHCR7c.1091C= (p.Thr364=)
c.917C= (p.Thr306=)
c.1142C= (p.Thr381=)
c.1127C= (p.Thr376=)
c.1099C= (p.Arg367=)
n.1131C=
c.506C= (p.Thr169=)
c.995C= (p.Thr332=)
c.592C= (p.Arg198=)
c.341C= (p.Thr114=)
c.319+2100C=
c.1225C= (p.Arg409=)
11g.71435712G>TCA381702073DHCR7c.1091C>A (p.Thr364Lys)
c.917C>A (p.Thr306Lys)
c.1142C>A (p.Thr381Lys)
c.1127C>A (p.Thr376Lys)
c.1099C>A (p.Arg367=)
n.1131C>A
c.506C>A (p.Thr169Lys)
c.995C>A (p.Thr332Lys)
c.592C>A (p.Arg198=)
c.341C>A (p.Thr114Lys)
c.319+2100C>A
c.1225C>A (p.Arg409=)
11g.71435713T>ACA381702075DHCR7c.1090A>T (p.Thr364Ser)
c.916A>T (p.Thr306Ser)
c.1141A>T (p.Thr381Ser)
c.1126A>T (p.Thr376Ser)
c.1098A>T (p.Ala366=)
n.1130A>T
c.505A>T (p.Thr169Ser)
c.994A>T (p.Thr332Ser)
c.591A>T (p.Ala197=)
c.340A>T (p.Thr114Ser)
c.319+2099A>T
c.1224A>T (p.Ala408=)
11g.71435713T>CCA381702076DHCR7c.1090A>G (p.Thr364Ala)
c.916A>G (p.Thr306Ala)
c.1141A>G (p.Thr381Ala)
c.1126A>G (p.Thr376Ala)
c.1098A>G (p.Ala366=)
n.1130A>G
c.505A>G (p.Thr169Ala)
c.994A>G (p.Thr332Ala)
c.591A>G (p.Ala197=)
c.340A>G (p.Thr114Ala)
c.319+2099A>G
c.1224A>G (p.Ala408=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435713T>GCA381702079DHCR7c.1090A>C (p.Thr364Pro)
c.916A>C (p.Thr306Pro)
c.1141A>C (p.Thr381Pro)
c.1126A>C (p.Thr376Pro)
c.1098A>C (p.Ala366=)
n.1130A>C
c.505A>C (p.Thr169Pro)
c.994A>C (p.Thr332Pro)
c.591A>C (p.Ala197=)
c.340A>C (p.Thr114Pro)
c.319+2099A>C
c.1224A>C (p.Ala408=)
11g.71435713T=CA1981486974DHCR7c.1090A= (p.Thr364=)
c.916A= (p.Thr306=)
c.1141A= (p.Thr381=)
c.1126A= (p.Thr376=)
c.1098A= (p.Ala366=)
n.1130A=
c.505A= (p.Thr169=)
c.994A= (p.Thr332=)
c.591A= (p.Ala197=)
c.340A= (p.Thr114=)
c.319+2099A=
c.1224A= (p.Ala408=)
11g.71435714G>ACA381702081DHCR7c.1089C>T (p.Arg363=)
c.915C>T (p.Arg305=)
c.1140C>T (p.Arg380=)
c.1125C>T (p.Arg375=)
c.1097C>T (p.Ala366Val)
n.1129C>T
c.504C>T (p.Arg168=)
c.993C>T (p.Arg331=)
c.590C>T (p.Ala197Val)
c.339C>T (p.Arg113=)
c.319+2098C>T
c.1223C>T (p.Ala408Val)
 ClinVar gnomAD v4 COSMIC COSMIC
11g.71435714G>CCA381702082DHCR7c.1089C>G (p.Arg363=)
c.915C>G (p.Arg305=)
c.1140C>G (p.Arg380=)
c.1125C>G (p.Arg375=)
c.1097C>G (p.Ala366Gly)
n.1129C>G
c.504C>G (p.Arg168=)
c.993C>G (p.Arg331=)
c.590C>G (p.Ala197Gly)
c.339C>G (p.Arg113=)
c.319+2098C>G
c.1223C>G (p.Ala408Gly)
11g.71435714G>TCA381702080DHCR7c.1089C>A (p.Arg363=)
c.915C>A (p.Arg305=)
c.1140C>A (p.Arg380=)
c.1125C>A (p.Arg375=)
c.1097C>A (p.Ala366Glu)
n.1129C>A
c.504C>A (p.Arg168=)
c.993C>A (p.Arg331=)
c.590C>A (p.Ala197Glu)
c.339C>A (p.Arg113=)
c.319+2098C>A
c.1223C>A (p.Ala408Glu)
11g.71435715C>ACA224324448DHCR7c.1088G>T (p.Arg363Leu)
c.914G>T (p.Arg305Leu)
c.1139G>T (p.Arg380Leu)
c.1124G>T (p.Arg375Leu)
c.1096G>T (p.Ala366Ser)
n.1128G>T
c.503G>T (p.Arg168Leu)
c.992G>T (p.Arg331Leu)
c.589G>T (p.Ala197Ser)
c.338G>T (p.Arg113Leu)
c.319+2097G>T
c.1222G>T (p.Ala408Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71435715C=CA1981486975DHCR7c.1088G= (p.Arg363=)
c.914G= (p.Arg305=)
c.1139G= (p.Arg380=)
c.1124G= (p.Arg375=)
c.1096G= (p.Ala366=)
n.1128G=
c.503G= (p.Arg168=)
c.992G= (p.Arg331=)
c.589G= (p.Ala197=)
c.338G= (p.Arg113=)
c.319+2097G=
c.1222G= (p.Ala408=)
11g.71435715C>GCA381702088DHCR7c.1088G>C (p.Arg363Pro)
c.914G>C (p.Arg305Pro)
c.1139G>C (p.Arg380Pro)
c.1124G>C (p.Arg375Pro)
c.1096G>C (p.Ala366Pro)
n.1128G>C
c.503G>C (p.Arg168Pro)
c.992G>C (p.Arg331Pro)
c.589G>C (p.Ala197Pro)
c.338G>C (p.Arg113Pro)
c.319+2097G>C
c.1222G>C (p.Ala408Pro)
11g.71435715C>TCA6162315DHCR7c.1088G>A (p.Arg363His)
c.914G>A (p.Arg305His)
c.1139G>A (p.Arg380His)
c.1124G>A (p.Arg375His)
c.1096G>A (p.Ala366Thr)
n.1128G>A
c.503G>A (p.Arg168His)
c.992G>A (p.Arg331His)
c.589G>A (p.Ala197Thr)
c.338G>A (p.Arg113His)
c.319+2097G>A
c.1222G>A (p.Ala408Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435716G>ACA6162316DHCR7c.1087C>T (p.Arg363Cys)
c.913C>T (p.Arg305Cys)
c.1138C>T (p.Arg380Cys)
c.1123C>T (p.Arg375Cys)
c.1095C>T (p.Ala365=)
n.1127C>T
c.502C>T (p.Arg168Cys)
c.991C>T (p.Arg331Cys)
c.588C>T (p.Ala196=)
c.337C>T (p.Arg113Cys)
c.319+2096C>T
c.1221C>T (p.Ala407=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435716G>CCA381702090DHCR7c.1087C>G (p.Arg363Gly)
c.913C>G (p.Arg305Gly)
c.1138C>G (p.Arg380Gly)
c.1123C>G (p.Arg375Gly)
c.1095C>G (p.Ala365=)
n.1127C>G
c.502C>G (p.Arg168Gly)
c.991C>G (p.Arg331Gly)
c.588C>G (p.Ala196=)
c.337C>G (p.Arg113Gly)
c.319+2096C>G
c.1221C>G (p.Ala407=)
11g.71435716G=CA1981486976DHCR7c.1087C= (p.Arg363=)
c.913C= (p.Arg305=)
c.1138C= (p.Arg380=)
c.1123C= (p.Arg375=)
c.1095C= (p.Ala365=)
n.1127C=
c.502C= (p.Arg168=)
c.991C= (p.Arg331=)
c.588C= (p.Ala196=)
c.337C= (p.Arg113=)
c.319+2096C=
c.1221C= (p.Ala407=)
11g.71435716G>TCA381702092DHCR7c.1087C>A (p.Arg363Ser)
c.913C>A (p.Arg305Ser)
c.1138C>A (p.Arg380Ser)
c.1123C>A (p.Arg375Ser)
c.1095C>A (p.Ala365=)
n.1127C>A
c.502C>A (p.Arg168Ser)
c.991C>A (p.Arg331Ser)
c.588C>A (p.Ala196=)
c.337C>A (p.Arg113Ser)
c.319+2096C>A
c.1221C>A (p.Ala407=)
11g.71435717G>ACA381702093DHCR7c.1086C>T (p.Arg362=)
c.912C>T (p.Arg304=)
c.1137C>T (p.Arg379=)
c.1122C>T (p.Arg374=)
c.1094C>T (p.Ala365Val)
n.1126C>T
c.501C>T (p.Arg167=)
c.990C>T (p.Arg330=)
c.587C>T (p.Ala196Val)
c.336C>T (p.Arg112=)
c.319+2095C>T
c.1220C>T (p.Ala407Val)
 ClinVar dbSNP gnomAD v4
11g.71435717G>CCA381702095DHCR7c.1086C>G (p.Arg362=)
c.912C>G (p.Arg304=)
c.1137C>G (p.Arg379=)
c.1122C>G (p.Arg374=)
c.1094C>G (p.Ala365Gly)
n.1126C>G
c.501C>G (p.Arg167=)
c.990C>G (p.Arg330=)
c.587C>G (p.Ala196Gly)
c.336C>G (p.Arg112=)
c.319+2095C>G
c.1220C>G (p.Ala407Gly)
11g.71435717G=CA1981486977DHCR7c.1086C= (p.Arg362=)
c.912C= (p.Arg304=)
c.1137C= (p.Arg379=)
c.1122C= (p.Arg374=)
c.1094C= (p.Ala365=)
n.1126C=
c.501C= (p.Arg167=)
c.990C= (p.Arg330=)
c.587C= (p.Ala196=)
c.336C= (p.Arg112=)
c.319+2095C=
c.1220C= (p.Ala407=)
11g.71435717G>TCA381702098DHCR7c.1086C>A (p.Arg362=)
c.912C>A (p.Arg304=)
c.1137C>A (p.Arg379=)
c.1122C>A (p.Arg374=)
c.1094C>A (p.Ala365Asp)
n.1126C>A
c.501C>A (p.Arg167=)
c.990C>A (p.Arg330=)
c.587C>A (p.Ala196Asp)
c.336C>A (p.Arg112=)
c.319+2095C>A
c.1220C>A (p.Ala407Asp)
 gnomAD v4
11g.71435718C>ACA6162318DHCR7c.1085G>T (p.Arg362Leu)
c.911G>T (p.Arg304Leu)
c.1136G>T (p.Arg379Leu)
c.1121G>T (p.Arg374Leu)
c.1093G>T (p.Ala365Ser)
n.1125G>T
c.500G>T (p.Arg167Leu)
c.989G>T (p.Arg330Leu)
c.586G>T (p.Ala196Ser)
c.335G>T (p.Arg112Leu)
c.319+2094G>T
c.1219G>T (p.Ala407Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435718C=CA1981486978DHCR7c.1085G= (p.Arg362=)
c.911G= (p.Arg304=)
c.1136G= (p.Arg379=)
c.1121G= (p.Arg374=)
c.1093G= (p.Ala365=)
n.1125G=
c.500G= (p.Arg167=)
c.989G= (p.Arg330=)
c.586G= (p.Ala196=)
c.335G= (p.Arg112=)
c.319+2094G=
c.1219G= (p.Ala407=)
11g.71435718C>GCA381702101DHCR7c.1085G>C (p.Arg362Pro)
c.911G>C (p.Arg304Pro)
c.1136G>C (p.Arg379Pro)
c.1121G>C (p.Arg374Pro)
c.1093G>C (p.Ala365Pro)
n.1125G>C
c.500G>C (p.Arg167Pro)
c.989G>C (p.Arg330Pro)
c.586G>C (p.Ala196Pro)
c.335G>C (p.Arg112Pro)
c.319+2094G>C
c.1219G>C (p.Ala407Pro)
11g.71435718C>TCA6162317DHCR7c.1085G>A (p.Arg362His)
c.911G>A (p.Arg304His)
c.1136G>A (p.Arg379His)
c.1121G>A (p.Arg374His)
c.1093G>A (p.Ala365Thr)
n.1125G>A
c.500G>A (p.Arg167His)
c.989G>A (p.Arg330His)
c.586G>A (p.Ala196Thr)
c.335G>A (p.Arg112His)
c.319+2094G>A
c.1219G>A (p.Ala407Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435719G>ACA6162319DHCR7c.1084C>T (p.Arg362Cys)
c.910C>T (p.Arg304Cys)
c.1135C>T (p.Arg379Cys)
c.1120C>T (p.Arg374Cys)
c.1092C>T (p.Ser364=)
n.1124C>T
c.499C>T (p.Arg167Cys)
c.988C>T (p.Arg330Cys)
c.585C>T (p.Ser195=)
c.334C>T (p.Arg112Cys)
c.319+2093C>T
c.1218C>T (p.Ser406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435719G>CCA381702106DHCR7c.1084C>G (p.Arg362Gly)
c.910C>G (p.Arg304Gly)
c.1135C>G (p.Arg379Gly)
c.1120C>G (p.Arg374Gly)
c.1092C>G (p.Ser364=)
n.1124C>G
c.499C>G (p.Arg167Gly)
c.988C>G (p.Arg330Gly)
c.585C>G (p.Ser195=)
c.334C>G (p.Arg112Gly)
c.319+2093C>G
c.1218C>G (p.Ser406=)
 ClinVar dbSNP
11g.71435719G=CA1981486979DHCR7c.1084C= (p.Arg362=)
c.910C= (p.Arg304=)
c.1135C= (p.Arg379=)
c.1120C= (p.Arg374=)
c.1092C= (p.Ser364=)
n.1124C=
c.499C= (p.Arg167=)
c.988C= (p.Arg330=)
c.585C= (p.Ser195=)
c.334C= (p.Arg112=)
c.319+2093C=
c.1218C= (p.Ser406=)
11g.71435719G>TCA381702107DHCR7c.1084C>A (p.Arg362Ser)
c.910C>A (p.Arg304Ser)
c.1135C>A (p.Arg379Ser)
c.1120C>A (p.Arg374Ser)
c.1092C>A (p.Ser364=)
n.1124C>A
c.499C>A (p.Arg167Ser)
c.988C>A (p.Arg330Ser)
c.585C>A (p.Ser195=)
c.334C>A (p.Arg112Ser)
c.319+2093C>A
c.1218C>A (p.Ser406=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435720delCA2614857221DHCR7c.1084del (p.Arg362AlafsTer?)
c.910del (p.Arg304AlafsTer?)
c.1135del (p.Arg379AlafsTer?)
c.1120del (p.Arg374AlafsTer?)
c.1092del (p.Ala365ProfsTer?)
n.1124del
c.499del (p.Arg167AlafsTer?)
c.988del (p.Arg330AlafsTer?)
c.585del (p.Ala196ProfsTer?)
c.334del (p.Arg112AlafsTer?)
c.319+2093del
c.1218del (p.Ala407ProfsTer?)
 gnomAD v4
11g.71435720G>ACA381702109DHCR7c.1083C>T (p.Phe361=)
c.909C>T (p.Phe303=)
c.1134C>T (p.Phe378=)
c.1119C>T (p.Phe373=)
c.1091C>T (p.Ser364Phe)
n.1123C>T
c.498C>T (p.Phe166=)
c.987C>T (p.Phe329=)
c.584C>T (p.Ser195Phe)
c.333C>T (p.Phe111=)
c.319+2092C>T
c.1217C>T (p.Ser406Phe)
 dbSNP
11g.71435720G>CCA381702110DHCR7c.1083C>G (p.Phe361Leu)
c.909C>G (p.Phe303Leu)
c.1134C>G (p.Phe378Leu)
c.1119C>G (p.Phe373Leu)
c.1091C>G (p.Ser364Cys)
n.1123C>G
c.498C>G (p.Phe166Leu)
c.987C>G (p.Phe329Leu)
c.584C>G (p.Ser195Cys)
c.333C>G (p.Phe111Leu)
c.319+2092C>G
c.1217C>G (p.Ser406Cys)
 ClinVar dbSNP gnomAD v4
11g.71435720G=CA1981486980DHCR7c.1083C= (p.Phe361=)
c.909C= (p.Phe303=)
c.1134C= (p.Phe378=)
c.1119C= (p.Phe373=)
c.1091C= (p.Ser364=)
n.1123C=
c.498C= (p.Phe166=)
c.987C= (p.Phe329=)
c.584C= (p.Ser195=)
c.333C= (p.Phe111=)
c.319+2092C=
c.1217C= (p.Ser406=)
11g.71435720G>TCA6162320DHCR7c.1083C>A (p.Phe361Leu)
c.909C>A (p.Phe303Leu)
c.1134C>A (p.Phe378Leu)
c.1119C>A (p.Phe373Leu)
c.1091C>A (p.Ser364Tyr)
n.1123C>A
c.498C>A (p.Phe166Leu)
c.987C>A (p.Phe329Leu)
c.584C>A (p.Ser195Tyr)
c.333C>A (p.Phe111Leu)
c.319+2092C>A
c.1217C>A (p.Ser406Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435721A=CA1981486982DHCR7c.1082T= (p.Phe361=)
c.908T= (p.Phe303=)
c.1133T= (p.Phe378=)
c.1118T= (p.Phe373=)
c.1090T= (p.Ser364=)
n.1122T=
c.497T= (p.Phe166=)
c.986T= (p.Phe329=)
c.583T= (p.Ser195=)
c.332T= (p.Phe111=)
c.319+2091T=
c.1216T= (p.Ser406=)
11g.71435721A>CCA381702113DHCR7c.1082T>G (p.Phe361Cys)
c.908T>G (p.Phe303Cys)
c.1133T>G (p.Phe378Cys)
c.1118T>G (p.Phe373Cys)
c.1090T>G (p.Ser364Ala)
n.1122T>G
c.497T>G (p.Phe166Cys)
c.986T>G (p.Phe329Cys)
c.583T>G (p.Ser195Ala)
c.332T>G (p.Phe111Cys)
c.319+2091T>G
c.1216T>G (p.Ser406Ala)
11g.71435721A>GCA381702115DHCR7c.1082T>C (p.Phe361Ser)
c.908T>C (p.Phe303Ser)
c.1133T>C (p.Phe378Ser)
c.1118T>C (p.Phe373Ser)
c.1090T>C (p.Ser364Pro)
n.1122T>C
c.497T>C (p.Phe166Ser)
c.986T>C (p.Phe329Ser)
c.583T>C (p.Ser195Pro)
c.332T>C (p.Phe111Ser)
c.319+2091T>C
c.1216T>C (p.Ser406Pro)
 dbSNP
11g.71435721A>TCA381702116DHCR7c.1082T>A (p.Phe361Tyr)
c.908T>A (p.Phe303Tyr)
c.1133T>A (p.Phe378Tyr)
c.1118T>A (p.Phe373Tyr)
c.1090T>A (p.Ser364Thr)
n.1122T>A
c.497T>A (p.Phe166Tyr)
c.986T>A (p.Phe329Tyr)
c.583T>A (p.Ser195Thr)
c.332T>A (p.Phe111Tyr)
c.319+2091T>A
c.1216T>A (p.Ser406Thr)
11g.71435721_71435723delinsAACCA1981486981DHCR7c.1080_1082delinsGTT (p.Leu360=)
c.906_908delinsGTT (p.Leu302=)
c.1131_1133delinsGTT (p.Leu377=)
c.1116_1118delinsGTT (p.Leu372=)
c.1088_1090delinsGTT (p.Cys363=)
n.1120_1122delinsGTT
c.495_497delinsGTT (p.Leu165=)
c.984_986delinsGTT (p.Leu328=)
c.581_583delinsGTT (p.Cys194=)
c.330_332delinsGTT (p.Leu110=)
c.319+2089_319+2091delinsGTT
c.1214_1216delinsGTT (p.Cys405=)
11g.71435722A>CCA381702118DHCR7c.1081T>G (p.Phe361Val)
c.907T>G (p.Phe303Val)
c.1132T>G (p.Phe378Val)
c.1117T>G (p.Phe373Val)
c.1089T>G (p.Cys363Trp)
n.1121T>G
c.496T>G (p.Phe166Val)
c.985T>G (p.Phe329Val)
c.582T>G (p.Cys194Trp)
c.331T>G (p.Phe111Val)
c.319+2090T>G
c.1215T>G (p.Cys405Trp)
11g.71435722A>GCA381702119DHCR7c.1081T>C (p.Phe361Leu)
c.907T>C (p.Phe303Leu)
c.1132T>C (p.Phe378Leu)
c.1117T>C (p.Phe373Leu)
c.1089T>C (p.Cys363=)
n.1121T>C
c.496T>C (p.Phe166Leu)
c.985T>C (p.Phe329Leu)
c.582T>C (p.Cys194=)
c.331T>C (p.Phe111Leu)
c.319+2090T>C
c.1215T>C (p.Cys405=)
11g.71435722A>TCA381702121DHCR7c.1081T>A (p.Phe361Ile)
c.907T>A (p.Phe303Ile)
c.1132T>A (p.Phe378Ile)
c.1117T>A (p.Phe373Ile)
c.1089T>A (p.Cys363Ter)
n.1121T>A
c.496T>A (p.Phe166Ile)
c.985T>A (p.Phe329Ile)
c.582T>A (p.Cys194Ter)
c.331T>A (p.Phe111Ile)
c.319+2090T>A
c.1215T>A (p.Cys405Ter)
11g.71435723_71435724delCA16041546DHCR7c.1080_1081del (p.Phe361ProfsTer?)
c.906_907del (p.Phe303ProfsTer?)
c.1131_1132del (p.Phe378ProfsTer?)
c.1116_1117del (p.Phe373ProfsTer?)
c.1088_1089del (p.Cys363PhefsTer?)
n.1120_1121del
c.495_496del (p.Phe166ProfsTer?)
c.984_985del (p.Phe329ProfsTer?)
c.581_582del (p.Cys194PhefsTer?)
c.330_331del (p.Phe111ProfsTer?)
c.319+2089_319+2090del
c.1214_1215del (p.Cys405PhefsTer?)
 ClinVar dbSNP
11g.71435723C>ACA381702124DHCR7c.1080G>T (p.Leu360=)
c.906G>T (p.Leu302=)
c.1131G>T (p.Leu377=)
c.1116G>T (p.Leu372=)
c.1088G>T (p.Cys363Phe)
n.1120G>T
c.495G>T (p.Leu165=)
c.984G>T (p.Leu328=)
c.581G>T (p.Cys194Phe)
c.330G>T (p.Leu110=)
c.319+2089G>T
c.1214G>T (p.Cys405Phe)
11g.71435723C>GCA381702125DHCR7c.1080G>C (p.Leu360=)
c.906G>C (p.Leu302=)
c.1131G>C (p.Leu377=)
c.1116G>C (p.Leu372=)
c.1088G>C (p.Cys363Ser)
n.1120G>C
c.495G>C (p.Leu165=)
c.984G>C (p.Leu328=)
c.581G>C (p.Cys194Ser)
c.330G>C (p.Leu110=)
c.319+2089G>C
c.1214G>C (p.Cys405Ser)
11g.71435723C>TCA381702126DHCR7c.1080G>A (p.Leu360=)
c.906G>A (p.Leu302=)
c.1131G>A (p.Leu377=)
c.1116G>A (p.Leu372=)
c.1088G>A (p.Cys363Tyr)
n.1120G>A
c.495G>A (p.Leu165=)
c.984G>A (p.Leu328=)
c.581G>A (p.Cys194Tyr)
c.330G>A (p.Leu110=)
c.319+2089G>A
c.1214G>A (p.Cys405Tyr)
11g.71435724A=CA1981486983DHCR7c.1079T= (p.Leu360=)
c.905T= (p.Leu302=)
c.1130T= (p.Leu377=)
c.1115T= (p.Leu372=)
c.1087T= (p.Cys363=)
n.1119T=
c.494T= (p.Leu165=)
c.983T= (p.Leu328=)
c.580T= (p.Cys194=)
c.329T= (p.Leu110=)
c.319+2088T=
c.1213T= (p.Cys405=)
11g.71435724A>CCA381702130DHCR7c.1079T>G (p.Leu360Arg)
c.905T>G (p.Leu302Arg)
c.1130T>G (p.Leu377Arg)
c.1115T>G (p.Leu372Arg)
c.1087T>G (p.Cys363Gly)
n.1119T>G
c.494T>G (p.Leu165Arg)
c.983T>G (p.Leu328Arg)
c.580T>G (p.Cys194Gly)
c.329T>G (p.Leu110Arg)
c.319+2088T>G
c.1213T>G (p.Cys405Gly)
11g.71435724A>GCA381702131DHCR7c.1079T>C (p.Leu360Pro)
c.905T>C (p.Leu302Pro)
c.1130T>C (p.Leu377Pro)
c.1115T>C (p.Leu372Pro)
c.1087T>C (p.Cys363Arg)
n.1119T>C
c.494T>C (p.Leu165Pro)
c.983T>C (p.Leu328Pro)
c.580T>C (p.Cys194Arg)
c.329T>C (p.Leu110Pro)
c.319+2088T>C
c.1213T>C (p.Cys405Arg)
 ClinVar dbSNP
11g.71435724A>TCA381702128DHCR7c.1079T>A (p.Leu360Gln)
c.905T>A (p.Leu302Gln)
c.1130T>A (p.Leu377Gln)
c.1115T>A (p.Leu372Gln)
c.1087T>A (p.Cys363Ser)
n.1119T>A
c.494T>A (p.Leu165Gln)
c.983T>A (p.Leu328Gln)
c.580T>A (p.Cys194Ser)
c.329T>A (p.Leu110Gln)
c.319+2088T>A
c.1213T>A (p.Cys405Ser)
 COSMIC COSMIC
11g.71435725G>ACA475861116DHCR7c.1078C>T (p.Leu360=)
c.904C>T (p.Leu302=)
c.1129C>T (p.Leu377=)
c.1114C>T (p.Leu372=)
c.1086C>T (p.Thr362=)
n.1118C>T
c.493C>T (p.Leu165=)
c.982C>T (p.Leu328=)
c.579C>T (p.Thr193=)
c.328C>T (p.Leu110=)
c.319+2087C>T
c.1212C>T (p.Thr404=)
11g.71435725G>CCA381702132DHCR7c.1078C>G (p.Leu360Val)
c.904C>G (p.Leu302Val)
c.1129C>G (p.Leu377Val)
c.1114C>G (p.Leu372Val)
c.1086C>G (p.Thr362=)
n.1118C>G
c.493C>G (p.Leu165Val)
c.982C>G (p.Leu328Val)
c.579C>G (p.Thr193=)
c.328C>G (p.Leu110Val)
c.319+2087C>G
c.1212C>G (p.Thr404=)
11g.71435725G=CA1981486984DHCR7c.1078C= (p.Leu360=)
c.904C= (p.Leu302=)
c.1129C= (p.Leu377=)
c.1114C= (p.Leu372=)
c.1086C= (p.Thr362=)
n.1118C=
c.493C= (p.Leu165=)
c.982C= (p.Leu328=)
c.579C= (p.Thr193=)
c.328C= (p.Leu110=)
c.319+2087C=
c.1212C= (p.Thr404=)
11g.71435725G>TCA381702134DHCR7c.1078C>A (p.Leu360Met)
c.904C>A (p.Leu302Met)
c.1129C>A (p.Leu377Met)
c.1114C>A (p.Leu372Met)
c.1086C>A (p.Thr362=)
n.1118C>A
c.493C>A (p.Leu165Met)
c.982C>A (p.Leu328Met)
c.579C>A (p.Thr193=)
c.328C>A (p.Leu110Met)
c.319+2087C>A
c.1212C>A (p.Thr404=)
11g.71435726G>ACA381702136DHCR7c.1077C>T (p.Asp359=)
c.903C>T (p.Asp301=)
c.1128C>T (p.Asp376=)
c.1113C>T (p.Asp371=)
c.1085C>T (p.Thr362Ile)
n.1117C>T
c.492C>T (p.Asp164=)
c.981C>T (p.Asp327=)
c.578C>T (p.Thr193Ile)
c.327C>T (p.Asp109=)
c.319+2086C>T
c.1211C>T (p.Thr404Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435726G>CCA381702137DHCR7c.1077C>G (p.Asp359Glu)
c.903C>G (p.Asp301Glu)
c.1128C>G (p.Asp376Glu)
c.1113C>G (p.Asp371Glu)
c.1085C>G (p.Thr362Ser)
n.1117C>G
c.492C>G (p.Asp164Glu)
c.981C>G (p.Asp327Glu)
c.578C>G (p.Thr193Ser)
c.327C>G (p.Asp109Glu)
c.319+2086C>G
c.1211C>G (p.Thr404Ser)
 ClinVar
11g.71435726G=CA1981486985DHCR7c.1077C= (p.Asp359=)
c.903C= (p.Asp301=)
c.1128C= (p.Asp376=)
c.1113C= (p.Asp371=)
c.1085C= (p.Thr362=)
n.1117C=
c.492C= (p.Asp164=)
c.981C= (p.Asp327=)
c.578C= (p.Thr193=)
c.327C= (p.Asp109=)
c.319+2086C=
c.1211C= (p.Thr404=)
11g.71435726G>TCA381702139DHCR7c.1077C>A (p.Asp359Glu)
c.903C>A (p.Asp301Glu)
c.1128C>A (p.Asp376Glu)
c.1113C>A (p.Asp371Glu)
c.1085C>A (p.Thr362Asn)
n.1117C>A
c.492C>A (p.Asp164Glu)
c.981C>A (p.Asp327Glu)
c.578C>A (p.Thr193Asn)
c.327C>A (p.Asp109Glu)
c.319+2086C>A
c.1211C>A (p.Thr404Asn)
 dbSNP
11g.71435726_71435727dupCA600241192DHCR7c.1076_1077dup (p.Leu360ThrfsTer?)
c.902_903dup (p.Leu302ThrfsTer?)
c.1127_1128dup (p.Leu377ThrfsTer?)
c.1112_1113dup (p.Leu372ThrfsTer?)
c.1084_1085dup (p.Cys363ProfsTer?)
n.1116_1117dup
c.491_492dup (p.Leu165ThrfsTer?)
c.980_981dup (p.Leu328ThrfsTer?)
c.577_578dup (p.Cys194ProfsTer?)
c.326_327dup (p.Leu110ThrfsTer?)
c.319+2085_319+2086dup
c.1210_1211dup (p.Cys405ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435727T>ACA381702144DHCR7c.1076A>T (p.Asp359Val)
c.902A>T (p.Asp301Val)
c.1127A>T (p.Asp376Val)
c.1112A>T (p.Asp371Val)
c.1084A>T (p.Thr362Ser)
n.1116A>T
c.491A>T (p.Asp164Val)
c.980A>T (p.Asp327Val)
c.577A>T (p.Thr193Ser)
c.326A>T (p.Asp109Val)
c.319+2085A>T
c.1210A>T (p.Thr404Ser)
11g.71435727T>CCA381702142DHCR7c.1076A>G (p.Asp359Gly)
c.902A>G (p.Asp301Gly)
c.1127A>G (p.Asp376Gly)
c.1112A>G (p.Asp371Gly)
c.1084A>G (p.Thr362Ala)
n.1116A>G
c.491A>G (p.Asp164Gly)
c.980A>G (p.Asp327Gly)
c.577A>G (p.Thr193Ala)
c.326A>G (p.Asp109Gly)
c.319+2085A>G
c.1210A>G (p.Thr404Ala)
 gnomAD v4
11g.71435727T>GCA381702140DHCR7c.1076A>C (p.Asp359Ala)
c.902A>C (p.Asp301Ala)
c.1127A>C (p.Asp376Ala)
c.1112A>C (p.Asp371Ala)
c.1084A>C (p.Thr362Pro)
n.1116A>C
c.491A>C (p.Asp164Ala)
c.980A>C (p.Asp327Ala)
c.577A>C (p.Thr193Pro)
c.326A>C (p.Asp109Ala)
c.319+2085A>C
c.1210A>C (p.Thr404Pro)
 dbSNP
11g.71435727T=CA1981486986DHCR7c.1076A= (p.Asp359=)
c.902A= (p.Asp301=)
c.1127A= (p.Asp376=)
c.1112A= (p.Asp371=)
c.1084A= (p.Thr362=)
n.1116A=
c.491A= (p.Asp164=)
c.980A= (p.Asp327=)
c.577A= (p.Thr193=)
c.326A= (p.Asp109=)
c.319+2085A=
c.1210A= (p.Thr404=)
11g.71435728C>ACA381702145DHCR7c.1075G>T (p.Asp359Tyr)
c.901G>T (p.Asp301Tyr)
c.1126G>T (p.Asp376Tyr)
c.1111G>T (p.Asp371Tyr)
c.1083G>T (p.Arg361Ser)
n.1115G>T
c.490G>T (p.Asp164Tyr)
c.979G>T (p.Asp327Tyr)
c.576G>T (p.Arg192Ser)
c.325G>T (p.Asp109Tyr)
c.319+2084G>T
c.1209G>T (p.Arg403Ser)
11g.71435728C>GCA381702146DHCR7c.1075G>C (p.Asp359His)
c.901G>C (p.Asp301His)
c.1126G>C (p.Asp376His)
c.1111G>C (p.Asp371His)
c.1083G>C (p.Arg361Ser)
n.1115G>C
c.490G>C (p.Asp164His)
c.979G>C (p.Asp327His)
c.576G>C (p.Arg192Ser)
c.325G>C (p.Asp109His)
c.319+2084G>C
c.1209G>C (p.Arg403Ser)
11g.71435728C>TCA381702147DHCR7c.1075G>A (p.Asp359Asn)
c.901G>A (p.Asp301Asn)
c.1126G>A (p.Asp376Asn)
c.1111G>A (p.Asp371Asn)
c.1083G>A (p.Arg361=)
n.1115G>A
c.490G>A (p.Asp164Asn)
c.979G>A (p.Asp327Asn)
c.576G>A (p.Arg192=)
c.325G>A (p.Asp109Asn)
c.319+2084G>A
c.1209G>A (p.Arg403=)
11g.71435729C>ACA381702148DHCR7c.1074G>T (p.Lys358Asn)
c.900G>T (p.Lys300Asn)
c.1125G>T (p.Lys375Asn)
c.1110G>T (p.Lys370Asn)
c.1082G>T (p.Arg361Met)
n.1114G>T
c.489G>T (p.Lys163Asn)
c.978G>T (p.Lys326Asn)
c.575G>T (p.Arg192Met)
c.324G>T (p.Lys108Asn)
c.319+2083G>T
c.1208G>T (p.Arg403Met)
11g.71435729C=CA1981486987DHCR7c.1074G= (p.Lys358=)
c.900G= (p.Lys300=)
c.1125G= (p.Lys375=)
c.1110G= (p.Lys370=)
c.1082G= (p.Arg361=)
n.1114G=
c.489G= (p.Lys163=)
c.978G= (p.Lys326=)
c.575G= (p.Arg192=)
c.324G= (p.Lys108=)
c.319+2083G=
c.1208G= (p.Arg403=)
11g.71435729C>GCA381702149DHCR7c.1074G>C (p.Lys358Asn)
c.900G>C (p.Lys300Asn)
c.1125G>C (p.Lys375Asn)
c.1110G>C (p.Lys370Asn)
c.1082G>C (p.Arg361Thr)
n.1114G>C
c.489G>C (p.Lys163Asn)
c.978G>C (p.Lys326Asn)
c.575G>C (p.Arg192Thr)
c.324G>C (p.Lys108Asn)
c.319+2083G>C
c.1208G>C (p.Arg403Thr)
11g.71435729C>TCA6162321DHCR7c.1074G>A (p.Lys358=)
c.900G>A (p.Lys300=)
c.1125G>A (p.Lys375=)
c.1110G>A (p.Lys370=)
c.1082G>A (p.Arg361Lys)
n.1114G>A
c.489G>A (p.Lys163=)
c.978G>A (p.Lys326=)
c.575G>A (p.Arg192Lys)
c.324G>A (p.Lys108=)
c.319+2083G>A
c.1208G>A (p.Arg403Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435729_71435730delinsCTCA1981486988DHCR7c.1073_1074delinsAG (p.Lys358=)
c.899_900delinsAG (p.Lys300=)
c.1124_1125delinsAG (p.Lys375=)
c.1109_1110delinsAG (p.Lys370=)
c.1081_1082delinsAG (p.Arg361=)
n.1113_1114delinsAG
c.488_489delinsAG (p.Lys163=)
c.977_978delinsAG (p.Lys326=)
c.574_575delinsAG (p.Arg192=)
c.323_324delinsAG (p.Lys108=)
c.319+2082_319+2083delinsAG
c.1207_1208delinsAG (p.Arg403=)
11g.71435730T>ACA381702152DHCR7c.1073A>T (p.Lys358Met)
c.899A>T (p.Lys300Met)
c.1124A>T (p.Lys375Met)
c.1109A>T (p.Lys370Met)
c.1081A>T (p.Arg361Trp)
n.1113A>T
c.488A>T (p.Lys163Met)
c.977A>T (p.Lys326Met)
c.574A>T (p.Arg192Trp)
c.323A>T (p.Lys108Met)
c.319+2082A>T
c.1207A>T (p.Arg403Trp)
11g.71435730T>CCA381702155DHCR7c.1073A>G (p.Lys358Arg)
c.899A>G (p.Lys300Arg)
c.1124A>G (p.Lys375Arg)
c.1109A>G (p.Lys370Arg)
c.1081A>G (p.Arg361Gly)
n.1113A>G
c.488A>G (p.Lys163Arg)
c.977A>G (p.Lys326Arg)
c.574A>G (p.Arg192Gly)
c.323A>G (p.Lys108Arg)
c.319+2082A>G
c.1207A>G (p.Arg403Gly)
11g.71435730T>GCA381702154DHCR7c.1073A>C (p.Lys358Thr)
c.899A>C (p.Lys300Thr)
c.1124A>C (p.Lys375Thr)
c.1109A>C (p.Lys370Thr)
c.1081A>C (p.Arg361=)
n.1113A>C
c.488A>C (p.Lys163Thr)
c.977A>C (p.Lys326Thr)
c.574A>C (p.Arg192=)
c.323A>C (p.Lys108Thr)
c.319+2082A>C
c.1207A>C (p.Arg403=)
 dbSNP
11g.71435730T=CA1981486989DHCR7c.1073A= (p.Lys358=)
c.899A= (p.Lys300=)
c.1124A= (p.Lys375=)
c.1109A= (p.Lys370=)
c.1081A= (p.Arg361=)
n.1113A=
c.488A= (p.Lys163=)
c.977A= (p.Lys326=)
c.574A= (p.Arg192=)
c.323A= (p.Lys108=)
c.319+2082A=
c.1207A= (p.Arg403=)
11g.71435731delCA1981486990DHCR7c.1073del (p.Lys358ArgfsTer?)
c.899del (p.Lys300ArgfsTer?)
c.1124del (p.Lys375ArgfsTer?)
c.1109del (p.Lys370ArgfsTer?)
c.1081del (p.Arg361GlyfsTer?)
n.1113del
c.488del (p.Lys163ArgfsTer?)
c.977del (p.Lys326ArgfsTer?)
c.574del (p.Arg192GlyfsTer?)
c.323del (p.Lys108ArgfsTer?)
c.319+2082del
c.1207del (p.Arg403GlyfsTer?)
 dbSNP
11g.71435731T>ACA381702156DHCR7c.1072A>T (p.Lys358Ter)
c.898A>T (p.Lys300Ter)
c.1123A>T (p.Lys375Ter)
c.1108A>T (p.Lys370Ter)
c.1080A>T (p.Arg360Ser)
n.1112A>T
c.487A>T (p.Lys163Ter)
c.976A>T (p.Lys326Ter)
c.573A>T (p.Arg191Ser)
c.322A>T (p.Lys108Ter)
c.319+2081A>T
c.1206A>T (p.Arg402Ser)
11g.71435731T>CCA381702157DHCR7c.1072A>G (p.Lys358Glu)
c.898A>G (p.Lys300Glu)
c.1123A>G (p.Lys375Glu)
c.1108A>G (p.Lys370Glu)
c.1080A>G (p.Arg360=)
n.1112A>G
c.487A>G (p.Lys163Glu)
c.976A>G (p.Lys326Glu)
c.573A>G (p.Arg191=)
c.322A>G (p.Lys108Glu)
c.319+2081A>G
c.1206A>G (p.Arg402=)
11g.71435731T>GCA381702158DHCR7c.1072A>C (p.Lys358Gln)
c.898A>C (p.Lys300Gln)
c.1123A>C (p.Lys375Gln)
c.1108A>C (p.Lys370Gln)
c.1080A>C (p.Arg360Ser)
n.1112A>C
c.487A>C (p.Lys163Gln)
c.976A>C (p.Lys326Gln)
c.573A>C (p.Arg191Ser)
c.322A>C (p.Lys108Gln)
c.319+2081A>C
c.1206A>C (p.Arg402Ser)
11g.71435732C>ACA6162322DHCR7c.1071G>T (p.Gln357His)
c.897G>T (p.Gln299His)
c.1122G>T (p.Gln374His)
c.1107G>T (p.Gln369His)
c.1079G>T (p.Arg360Ile)
n.1111G>T
c.486G>T (p.Gln162His)
c.975G>T (p.Gln325His)
c.572G>T (p.Arg191Ile)
c.321G>T (p.Gln107His)
c.319+2080G>T
c.1205G>T (p.Arg402Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435732C=CA1981486991DHCR7c.1071G= (p.Gln357=)
c.897G= (p.Gln299=)
c.1122G= (p.Gln374=)
c.1107G= (p.Gln369=)
c.1079G= (p.Arg360=)
n.1111G=
c.486G= (p.Gln162=)
c.975G= (p.Gln325=)
c.572G= (p.Arg191=)
c.321G= (p.Gln107=)
c.319+2080G=
c.1205G= (p.Arg402=)
11g.71435732C>GCA381702159DHCR7c.1071G>C (p.Gln357His)
c.897G>C (p.Gln299His)
c.1122G>C (p.Gln374His)
c.1107G>C (p.Gln369His)
c.1079G>C (p.Arg360Thr)
n.1111G>C
c.486G>C (p.Gln162His)
c.975G>C (p.Gln325His)
c.572G>C (p.Arg191Thr)
c.321G>C (p.Gln107His)
c.319+2080G>C
c.1205G>C (p.Arg402Thr)
11g.71435732C>TCA381702160DHCR7c.1071G>A (p.Gln357=)
c.897G>A (p.Gln299=)
c.1122G>A (p.Gln374=)
c.1107G>A (p.Gln369=)
c.1079G>A (p.Arg360Lys)
n.1111G>A
c.486G>A (p.Gln162=)
c.975G>A (p.Gln325=)
c.572G>A (p.Arg191Lys)
c.321G>A (p.Gln107=)
c.319+2080G>A
c.1205G>A (p.Arg402Lys)

Number of alleles fetched