Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435521G>ACA475860951DHCR7c.1282C>T (p.Leu428=)
c.1108C>T (p.Leu370=)
c.1333C>T (p.Leu445=)
c.1318C>T (p.Leu440=)
c.*45C>T (n.*45C>T)
n.1322C>T
c.697C>T (p.Leu233=)
c.1186C>T (p.Leu396=)
c.783C>T (n.783C>T)
c.532C>T (p.Leu178=)
c.319+2291C>T
11g.71435521G>CCA381701098DHCR7c.1282C>G (p.Leu428Val)
c.1108C>G (p.Leu370Val)
c.1333C>G (p.Leu445Val)
c.1318C>G (p.Leu440Val)
c.*45C>G (n.*45C>G)
n.1322C>G
c.697C>G (p.Leu233Val)
c.1186C>G (p.Leu396Val)
c.783C>G (n.783C>G)
c.532C>G (p.Leu178Val)
c.319+2291C>G
 dbSNP
11g.71435521G=CA1981486864DHCR7c.1282C= (p.Leu428=)
c.1108C= (p.Leu370=)
c.1333C= (p.Leu445=)
c.1318C= (p.Leu440=)
c.*45C= (n.*45C=)
n.1322C=
c.697C= (p.Leu233=)
c.1186C= (p.Leu396=)
c.783C= (n.783C=)
c.532C= (p.Leu178=)
c.319+2291C=
11g.71435521G>TCA381701095DHCR7c.1282C>A (p.Leu428Met)
c.1108C>A (p.Leu370Met)
c.1333C>A (p.Leu445Met)
c.1318C>A (p.Leu440Met)
c.*45C>A (n.*45C>A)
n.1322C>A
c.697C>A (p.Leu233Met)
c.1186C>A (p.Leu396Met)
c.783C>A (n.783C>A)
c.532C>A (p.Leu178Met)
c.319+2291C>A
11g.71435522C>ACA475860952DHCR7c.1281G>T (p.Leu427=)
c.1107G>T (p.Leu369=)
c.1332G>T (p.Leu444=)
c.1317G>T (p.Leu439=)
c.*44G>T (n.*44G>T)
n.1321G>T
c.696G>T (p.Leu232=)
c.1185G>T (p.Leu395=)
c.782G>T (n.782G>T)
c.531G>T (p.Leu177=)
c.319+2290G>T
 gnomAD v4
11g.71435522C>GCA475860953DHCR7c.1281G>C (p.Leu427=)
c.1107G>C (p.Leu369=)
c.1332G>C (p.Leu444=)
c.1317G>C (p.Leu439=)
c.*44G>C (n.*44G>C)
n.1321G>C
c.696G>C (p.Leu232=)
c.1185G>C (p.Leu395=)
c.782G>C (n.782G>C)
c.531G>C (p.Leu177=)
c.319+2290G>C
 gnomAD v3 gnomAD v4
11g.71435522C>TCA475860954DHCR7c.1281G>A (p.Leu427=)
c.1107G>A (p.Leu369=)
c.1332G>A (p.Leu444=)
c.1317G>A (p.Leu439=)
c.*44G>A (n.*44G>A)
n.1321G>A
c.696G>A (p.Leu232=)
c.1185G>A (p.Leu395=)
c.782G>A (n.782G>A)
c.531G>A (p.Leu177=)
c.319+2290G>A
 gnomAD v4
11g.71435523A>CCA381701101DHCR7c.1280T>G (p.Leu427Arg)
c.1106T>G (p.Leu369Arg)
c.1331T>G (p.Leu444Arg)
c.1316T>G (p.Leu439Arg)
c.*43T>G (n.*43T>G)
n.1320T>G
c.695T>G (p.Leu232Arg)
c.1184T>G (p.Leu395Arg)
c.781T>G (n.781T>G)
c.530T>G (p.Leu177Arg)
c.319+2289T>G
11g.71435523A>GCA381701104DHCR7c.1280T>C (p.Leu427Pro)
c.1106T>C (p.Leu369Pro)
c.1331T>C (p.Leu444Pro)
c.1316T>C (p.Leu439Pro)
c.*43T>C (n.*43T>C)
n.1320T>C
c.695T>C (p.Leu232Pro)
c.1184T>C (p.Leu395Pro)
c.781T>C (n.781T>C)
c.530T>C (p.Leu177Pro)
c.319+2289T>C
11g.71435523A>TCA381701106DHCR7c.1280T>A (p.Leu427Gln)
c.1106T>A (p.Leu369Gln)
c.1331T>A (p.Leu444Gln)
c.1316T>A (p.Leu439Gln)
c.*43T>A (n.*43T>A)
n.1320T>A
c.695T>A (p.Leu232Gln)
c.1184T>A (p.Leu395Gln)
c.781T>A (n.781T>A)
c.530T>A (p.Leu177Gln)
c.319+2289T>A
11g.71435524G>ACA475860958DHCR7c.1279C>T (p.Leu427=)
c.1105C>T (p.Leu369=)
c.1330C>T (p.Leu444=)
c.1315C>T (p.Leu439=)
c.*42C>T (n.*42C>T)
n.1319C>T
c.694C>T (p.Leu232=)
c.1183C>T (p.Leu395=)
c.780C>T (n.780C>T)
c.529C>T (p.Leu177=)
c.319+2288C>T
11g.71435524G>CCA381701109DHCR7c.1279C>G (p.Leu427Val)
c.1105C>G (p.Leu369Val)
c.1330C>G (p.Leu444Val)
c.1315C>G (p.Leu439Val)
c.*42C>G (n.*42C>G)
n.1319C>G
c.694C>G (p.Leu232Val)
c.1183C>G (p.Leu395Val)
c.780C>G (n.780C>G)
c.529C>G (p.Leu177Val)
c.319+2288C>G
11g.71435524G>TCA381701113DHCR7c.1279C>A (p.Leu427Met)
c.1105C>A (p.Leu369Met)
c.1330C>A (p.Leu444Met)
c.1315C>A (p.Leu439Met)
c.*42C>A (n.*42C>A)
n.1319C>A
c.694C>A (p.Leu232Met)
c.1183C>A (p.Leu395Met)
c.780C>A (n.780C>A)
c.529C>A (p.Leu177Met)
c.319+2288C>A
 gnomAD v4
11g.71435525G>ACA475860959DHCR7c.1278C>T (p.His426=)
c.1104C>T (p.His368=)
c.1329C>T (p.His443=)
c.1314C>T (p.His438=)
c.*41C>T (n.*41C>T)
n.1318C>T
c.693C>T (p.His231=)
c.1182C>T (p.His394=)
c.779C>T (n.779C>T)
c.528C>T (p.His176=)
c.319+2287C>T
 ClinVar dbSNP gnomAD v4
11g.71435525G>CCA381701116DHCR7c.1278C>G (p.His426Gln)
c.1104C>G (p.His368Gln)
c.1329C>G (p.His443Gln)
c.1314C>G (p.His438Gln)
c.*41C>G (n.*41C>G)
n.1318C>G
c.693C>G (p.His231Gln)
c.1182C>G (p.His394Gln)
c.779C>G (n.779C>G)
c.528C>G (p.His176Gln)
c.319+2287C>G
11g.71435525G=CA1981486865DHCR7c.1278C= (p.His426=)
c.1104C= (p.His368=)
c.1329C= (p.His443=)
c.1314C= (p.His438=)
c.*41C= (n.*41C=)
n.1318C=
c.693C= (p.His231=)
c.1182C= (p.His394=)
c.779C= (n.779C=)
c.528C= (p.His176=)
c.319+2287C=
11g.71435525G>TCA6162271DHCR7c.1278C>A (p.His426Gln)
c.1104C>A (p.His368Gln)
c.1329C>A (p.His443Gln)
c.1314C>A (p.His438Gln)
c.*41C>A (n.*41C>A)
n.1318C>A
c.693C>A (p.His231Gln)
c.1182C>A (p.His394Gln)
c.779C>A (n.779C>A)
c.528C>A (p.His176Gln)
c.319+2287C>A
 dbSNP ExAC
11g.71435526T>ACA381701120DHCR7c.1277A>T (p.His426Leu)
c.1103A>T (p.His368Leu)
c.1328A>T (p.His443Leu)
c.1313A>T (p.His438Leu)
c.*40A>T (n.*40A>T)
n.1317A>T
c.692A>T (p.His231Leu)
c.1181A>T (p.His394Leu)
c.778A>T (n.778A>T)
c.527A>T (p.His176Leu)
c.319+2286A>T
11g.71435526T>CCA381701122DHCR7c.1277A>G (p.His426Arg)
c.1103A>G (p.His368Arg)
c.1328A>G (p.His443Arg)
c.1313A>G (p.His438Arg)
c.*40A>G (n.*40A>G)
n.1317A>G
c.692A>G (p.His231Arg)
c.1181A>G (p.His394Arg)
c.778A>G (n.778A>G)
c.527A>G (p.His176Arg)
c.319+2286A>G
11g.71435526T>GCA381701125DHCR7c.1277A>C (p.His426Pro)
c.1103A>C (p.His368Pro)
c.1328A>C (p.His443Pro)
c.1313A>C (p.His438Pro)
c.*40A>C (n.*40A>C)
n.1317A>C
c.692A>C (p.His231Pro)
c.1181A>C (p.His394Pro)
c.778A>C (n.778A>C)
c.527A>C (p.His176Pro)
c.319+2286A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435526T=CA1981486866DHCR7c.1277A= (p.His426=)
c.1103A= (p.His368=)
c.1328A= (p.His443=)
c.1313A= (p.His438=)
c.*40A= (n.*40A=)
n.1317A=
c.692A= (p.His231=)
c.1181A= (p.His394=)
c.778A= (n.778A=)
c.527A= (p.His176=)
c.319+2286A=
11g.71435527G>ACA6162272DHCR7c.1276C>T (p.His426Tyr)
c.1102C>T (p.His368Tyr)
c.1327C>T (p.His443Tyr)
c.1312C>T (p.His438Tyr)
c.*39C>T (n.*39C>T)
n.1316C>T
c.691C>T (p.His231Tyr)
c.1180C>T (p.His394Tyr)
c.777C>T (n.777C>T)
c.526C>T (p.His176Tyr)
c.319+2285C>T
 dbSNP ExAC gnomAD v2
11g.71435527G>CCA381701130DHCR7c.1276C>G (p.His426Asp)
c.1102C>G (p.His368Asp)
c.1327C>G (p.His443Asp)
c.1312C>G (p.His438Asp)
c.*39C>G (n.*39C>G)
n.1316C>G
c.691C>G (p.His231Asp)
c.1180C>G (p.His394Asp)
c.777C>G (n.777C>G)
c.526C>G (p.His176Asp)
c.319+2285C>G
11g.71435527G=CA1981486867DHCR7c.1276C= (p.His426=)
c.1102C= (p.His368=)
c.1327C= (p.His443=)
c.1312C= (p.His438=)
c.*39C= (n.*39C=)
n.1316C=
c.691C= (p.His231=)
c.1180C= (p.His394=)
c.777C= (n.777C=)
c.526C= (p.His176=)
c.319+2285C=
11g.71435527G>TCA381701135DHCR7c.1276C>A (p.His426Asn)
c.1102C>A (p.His368Asn)
c.1327C>A (p.His443Asn)
c.1312C>A (p.His438Asn)
c.*39C>A (n.*39C>A)
n.1316C>A
c.691C>A (p.His231Asn)
c.1180C>A (p.His394Asn)
c.777C>A (n.777C>A)
c.526C>A (p.His176Asn)
c.319+2285C>A
11g.71435528G>ACA475860962DHCR7c.1275C>T (p.Gly425=)
c.1101C>T (p.Gly367=)
c.1326C>T (p.Gly442=)
c.1311C>T (p.Gly437=)
c.*38C>T (n.*38C>T)
n.1315C>T
c.690C>T (p.Gly230=)
c.1179C>T (p.Gly393=)
c.776C>T (n.776C>T)
c.525C>T (p.Gly175=)
c.319+2284C>T
 gnomAD v4
11g.71435528G>CCA475860963DHCR7c.1275C>G (p.Gly425=)
c.1101C>G (p.Gly367=)
c.1326C>G (p.Gly442=)
c.1311C>G (p.Gly437=)
c.*38C>G (n.*38C>G)
n.1315C>G
c.690C>G (p.Gly230=)
c.1179C>G (p.Gly393=)
c.776C>G (n.776C>G)
c.525C>G (p.Gly175=)
c.319+2284C>G
11g.71435528G=CA1981486868DHCR7c.1275C= (p.Gly425=)
c.1101C= (p.Gly367=)
c.1326C= (p.Gly442=)
c.1311C= (p.Gly437=)
c.*38C= (n.*38C=)
n.1315C=
c.690C= (p.Gly230=)
c.1179C= (p.Gly393=)
c.776C= (n.776C=)
c.525C= (p.Gly175=)
c.319+2284C=
11g.71435528G>TCA475860964DHCR7c.1275C>A (p.Gly425=)
c.1101C>A (p.Gly367=)
c.1326C>A (p.Gly442=)
c.1311C>A (p.Gly437=)
c.*38C>A (n.*38C>A)
n.1315C>A
c.690C>A (p.Gly230=)
c.1179C>A (p.Gly393=)
c.776C>A (n.776C>A)
c.525C>A (p.Gly175=)
c.319+2284C>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435529C>ACA381701139DHCR7c.1274G>T (p.Gly425Val)
c.1100G>T (p.Gly367Val)
c.1325G>T (p.Gly442Val)
c.1310G>T (p.Gly437Val)
c.*37G>T (n.*37G>T)
n.1314G>T
c.689G>T (p.Gly230Val)
c.1178G>T (p.Gly393Val)
c.775G>T (n.775G>T)
c.524G>T (p.Gly175Val)
c.319+2283G>T
11g.71435529C=CA1981486870DHCR7c.1274G= (p.Gly425=)
c.1100G= (p.Gly367=)
c.1325G= (p.Gly442=)
c.1310G= (p.Gly437=)
c.*37G= (n.*37G=)
n.1314G=
c.689G= (p.Gly230=)
c.1178G= (p.Gly393=)
c.775G= (n.775G=)
c.524G= (p.Gly175=)
c.319+2283G=
11g.71435529C>GCA381701143DHCR7c.1274G>C (p.Gly425Ala)
c.1100G>C (p.Gly367Ala)
c.1325G>C (p.Gly442Ala)
c.1310G>C (p.Gly437Ala)
c.*37G>C (n.*37G>C)
n.1314G>C
c.689G>C (p.Gly230Ala)
c.1178G>C (p.Gly393Ala)
c.775G>C (n.775G>C)
c.524G>C (p.Gly175Ala)
c.319+2283G>C
11g.71435529C>TCA381701142DHCR7c.1274G>A (p.Gly425Asp)
c.1100G>A (p.Gly367Asp)
c.1325G>A (p.Gly442Asp)
c.1310G>A (p.Gly437Asp)
c.*37G>A (n.*37G>A)
n.1314G>A
c.689G>A (p.Gly230Asp)
c.1178G>A (p.Gly393Asp)
c.775G>A (n.775G>A)
c.524G>A (p.Gly175Asp)
c.319+2283G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435529_71435531delinsCCGCA1981486869DHCR7c.1272_1274delinsCGG (p.Gly424=)
c.1098_1100delinsCGG (p.Gly366=)
c.1323_1325delinsCGG (p.Gly441=)
c.1308_1310delinsCGG (p.Gly436=)
c.*35_*37delinsCGG (n.*35_*37delinsCGG)
n.1312_1314delinsCGG
c.687_689delinsCGG (p.Gly229=)
c.1176_1178delinsCGG (p.Gly392=)
c.773_775delinsCGG (n.773_775delinsCGG)
c.522_524delinsCGG (p.Gly174=)
c.319+2281_319+2283delinsCGG
11g.71435530C>ACA381701145DHCR7c.1273G>T (p.Gly425Cys)
c.1099G>T (p.Gly367Cys)
c.1324G>T (p.Gly442Cys)
c.1309G>T (p.Gly437Cys)
c.*36G>T (n.*36G>T)
n.1313G>T
c.688G>T (p.Gly230Cys)
c.1177G>T (p.Gly393Cys)
c.774G>T (n.774G>T)
c.523G>T (p.Gly175Cys)
c.319+2282G>T
11g.71435530C=CA1981486871DHCR7c.1273G= (p.Gly425=)
c.1099G= (p.Gly367=)
c.1324G= (p.Gly442=)
c.1309G= (p.Gly437=)
c.*36G= (n.*36G=)
n.1313G=
c.688G= (p.Gly230=)
c.1177G= (p.Gly393=)
c.774G= (n.774G=)
c.523G= (p.Gly175=)
c.319+2282G=
11g.71435530C>GCA381701147DHCR7c.1273G>C (p.Gly425Arg)
c.1099G>C (p.Gly367Arg)
c.1324G>C (p.Gly442Arg)
c.1309G>C (p.Gly437Arg)
c.*36G>C (n.*36G>C)
n.1313G>C
c.688G>C (p.Gly230Arg)
c.1177G>C (p.Gly393Arg)
c.774G>C (n.774G>C)
c.523G>C (p.Gly175Arg)
c.319+2282G>C
11g.71435530C>TCA6162273DHCR7c.1273G>A (p.Gly425Ser)
c.1099G>A (p.Gly367Ser)
c.1324G>A (p.Gly442Ser)
c.1309G>A (p.Gly437Ser)
c.*36G>A (n.*36G>A)
n.1313G>A
c.688G>A (p.Gly230Ser)
c.1177G>A (p.Gly393Ser)
c.774G>A (n.774G>A)
c.523G>A (p.Gly175Ser)
c.319+2282G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435530_71435531delinsTCA224324057DHCR7c.1272_1273delinsA (p.Gly425AlafsTer16)
c.1098_1099delinsA (p.Gly367AlafsTer16)
c.1323_1324delinsA (p.Gly442AlafsTer16)
c.1308_1309delinsA (p.Gly437AlafsTer16)
c.*35_*36delinsA (n.*35_*36delinsA)
n.1312_1313delinsA
c.687_688delinsA (p.Gly230AlafsTer16)
c.1176_1177delinsA (p.Gly393AlafsTer16)
c.773_774delinsA (n.773_774delinsA)
c.522_523delinsA (p.Gly175AlafsTer16)
c.319+2281_319+2282delinsA
 dbSNP
11g.71435530_71435531delinsCGCA1981486872DHCR7c.1272_1273delinsCG (p.Gly424=)
c.1098_1099delinsCG (p.Gly366=)
c.1323_1324delinsCG (p.Gly441=)
c.1308_1309delinsCG (p.Gly436=)
c.*35_*36delinsCG (n.*35_*36delinsCG)
n.1312_1313delinsCG
c.687_688delinsCG (p.Gly229=)
c.1176_1177delinsCG (p.Gly392=)
c.773_774delinsCG (n.773_774delinsCG)
c.522_523delinsCG (p.Gly174=)
c.319+2281_319+2282delinsCG
11g.71435531delCA224324067DHCR7c.1272del (p.Gly425AlafsTer16)
c.1098del (p.Gly367AlafsTer16)
c.1323del (p.Gly442AlafsTer16)
c.1308del (p.Gly437AlafsTer16)
c.*35del (n.*35del)
n.1312del
c.687del (p.Gly230AlafsTer16)
c.1176del (p.Gly393AlafsTer16)
c.773del (n.773del)
c.522del (p.Gly175AlafsTer16)
c.319+2281del
 dbSNP gnomAD v3 gnomAD v4
11g.71435531G>ACA147233DHCR7c.1272C>T (p.Gly424=)
c.1098C>T (p.Gly366=)
c.1323C>T (p.Gly441=)
c.1308C>T (p.Gly436=)
c.*35C>T (n.*35C>T)
n.1312C>T
c.687C>T (p.Gly229=)
c.1176C>T (p.Gly392=)
c.773C>T (n.773C>T)
c.522C>T (p.Gly174=)
c.319+2281C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435531G>CCA475860971DHCR7c.1272C>G (p.Gly424=)
c.1098C>G (p.Gly366=)
c.1323C>G (p.Gly441=)
c.1308C>G (p.Gly436=)
c.*35C>G (n.*35C>G)
n.1312C>G
c.687C>G (p.Gly229=)
c.1176C>G (p.Gly392=)
c.773C>G (n.773C>G)
c.522C>G (p.Gly174=)
c.319+2281C>G
 dbSNP gnomAD v4
11g.71435531G=CA1630855225DHCR7c.1272C= (p.Gly424=)
c.1098C= (p.Gly366=)
c.1323C= (p.Gly441=)
c.1308C= (p.Gly436=)
c.*35C= (n.*35C=)
n.1312C=
c.687C= (p.Gly229=)
c.1176C= (p.Gly392=)
c.773C= (n.773C=)
c.522C= (p.Gly174=)
c.319+2281C=
11g.71435531G>TCA475860973DHCR7c.1272C>A (p.Gly424=)
c.1098C>A (p.Gly366=)
c.1323C>A (p.Gly441=)
c.1308C>A (p.Gly436=)
c.*35C>A (n.*35C>A)
n.1312C>A
c.687C>A (p.Gly229=)
c.1176C>A (p.Gly392=)
c.773C>A (n.773C>A)
c.522C>A (p.Gly174=)
c.319+2281C>A
11g.71435532C>ACA381701158DHCR7c.1271G>T (p.Gly424Val)
c.1097G>T (p.Gly366Val)
c.1322G>T (p.Gly441Val)
c.1307G>T (p.Gly436Val)
c.*34G>T (n.*34G>T)
n.1311G>T
c.686G>T (p.Gly229Val)
c.1175G>T (p.Gly392Val)
c.772G>T (n.772G>T)
c.521G>T (p.Gly174Val)
c.319+2280G>T
 gnomAD v4
11g.71435532C>GCA381701160DHCR7c.1271G>C (p.Gly424Ala)
c.1097G>C (p.Gly366Ala)
c.1322G>C (p.Gly441Ala)
c.1307G>C (p.Gly436Ala)
c.*34G>C (n.*34G>C)
n.1311G>C
c.686G>C (p.Gly229Ala)
c.1175G>C (p.Gly392Ala)
c.772G>C (n.772G>C)
c.521G>C (p.Gly174Ala)
c.319+2280G>C
 gnomAD v4
11g.71435532C>TCA381701163DHCR7c.1271G>A (p.Gly424Asp)
c.1097G>A (p.Gly366Asp)
c.1322G>A (p.Gly441Asp)
c.1307G>A (p.Gly436Asp)
c.*34G>A (n.*34G>A)
n.1311G>A
c.686G>A (p.Gly229Asp)
c.1175G>A (p.Gly392Asp)
c.772G>A (n.772G>A)
c.521G>A (p.Gly174Asp)
c.319+2280G>A
 gnomAD v4
11g.71435533C>ACA6162274DHCR7c.1270G>T (p.Gly424Cys)
c.1096G>T (p.Gly366Cys)
c.1321G>T (p.Gly441Cys)
c.1306G>T (p.Gly436Cys)
c.*33G>T (n.*33G>T)
n.1310G>T
c.685G>T (p.Gly229Cys)
c.1174G>T (p.Gly392Cys)
c.771G>T (n.771G>T)
c.520G>T (p.Gly174Cys)
c.319+2279G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435533C=CA1981486873DHCR7c.1270G= (p.Gly424=)
c.1096G= (p.Gly366=)
c.1321G= (p.Gly441=)
c.1306G= (p.Gly436=)
c.*33G= (n.*33G=)
n.1310G=
c.685G= (p.Gly229=)
c.1174G= (p.Gly392=)
c.771G= (n.771G=)
c.520G= (p.Gly174=)
c.319+2279G=
11g.71435533C>GCA381701170DHCR7c.1270G>C (p.Gly424Arg)
c.1096G>C (p.Gly366Arg)
c.1321G>C (p.Gly441Arg)
c.1306G>C (p.Gly436Arg)
c.*33G>C (n.*33G>C)
n.1310G>C
c.685G>C (p.Gly229Arg)
c.1174G>C (p.Gly392Arg)
c.771G>C (n.771G>C)
c.520G>C (p.Gly174Arg)
c.319+2279G>C
11g.71435533C>TCA248059DHCR7c.1270G>A (p.Gly424Ser)
c.1096G>A (p.Gly366Ser)
c.1321G>A (p.Gly441Ser)
c.1306G>A (p.Gly436Ser)
c.*33G>A (n.*33G>A)
n.1310G>A
c.685G>A (p.Gly229Ser)
c.1174G>A (p.Gly392Ser)
c.771G>A (n.771G>A)
c.520G>A (p.Gly174Ser)
c.319+2279G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435534G>ACA6162275DHCR7c.1269C>T (p.Gly423=)
c.1095C>T (p.Gly365=)
c.1320C>T (p.Gly440=)
c.1305C>T (p.Gly435=)
c.*32C>T (n.*32C>T)
n.1309C>T
c.684C>T (p.Gly228=)
c.1173C>T (p.Gly391=)
c.770C>T (n.770C>T)
c.519C>T (p.Gly173=)
c.319+2278C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435534G>CCA475860977DHCR7c.1269C>G (p.Gly423=)
c.1095C>G (p.Gly365=)
c.1320C>G (p.Gly440=)
c.1305C>G (p.Gly435=)
c.*32C>G (n.*32C>G)
n.1309C>G
c.684C>G (p.Gly228=)
c.1173C>G (p.Gly391=)
c.770C>G (n.770C>G)
c.519C>G (p.Gly173=)
c.319+2278C>G
11g.71435534G=CA1981486874DHCR7c.1269C= (p.Gly423=)
c.1095C= (p.Gly365=)
c.1320C= (p.Gly440=)
c.1305C= (p.Gly435=)
c.*32C= (n.*32C=)
n.1309C=
c.684C= (p.Gly228=)
c.1173C= (p.Gly391=)
c.770C= (n.770C=)
c.519C= (p.Gly173=)
c.319+2278C=
11g.71435534G>TCA475860978DHCR7c.1269C>A (p.Gly423=)
c.1095C>A (p.Gly365=)
c.1320C>A (p.Gly440=)
c.1305C>A (p.Gly435=)
c.*32C>A (n.*32C>A)
n.1309C>A
c.684C>A (p.Gly228=)
c.1173C>A (p.Gly391=)
c.770C>A (n.770C>A)
c.519C>A (p.Gly173=)
c.319+2278C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435535C>ACA381701179DHCR7c.1268G>T (p.Gly423Val)
c.1094G>T (p.Gly365Val)
c.1319G>T (p.Gly440Val)
c.1304G>T (p.Gly435Val)
c.*31G>T (n.*31G>T)
n.1308G>T
c.683G>T (p.Gly228Val)
c.1172G>T (p.Gly391Val)
c.769G>T (n.769G>T)
c.518G>T (p.Gly173Val)
c.319+2277G>T
11g.71435535C>GCA381701180DHCR7c.1268G>C (p.Gly423Ala)
c.1094G>C (p.Gly365Ala)
c.1319G>C (p.Gly440Ala)
c.1304G>C (p.Gly435Ala)
c.*31G>C (n.*31G>C)
n.1308G>C
c.683G>C (p.Gly228Ala)
c.1172G>C (p.Gly391Ala)
c.769G>C (n.769G>C)
c.518G>C (p.Gly173Ala)
c.319+2277G>C
11g.71435535C>TCA381701176DHCR7c.1268G>A (p.Gly423Asp)
c.1094G>A (p.Gly365Asp)
c.1319G>A (p.Gly440Asp)
c.1304G>A (p.Gly435Asp)
c.*31G>A (n.*31G>A)
n.1308G>A
c.683G>A (p.Gly228Asp)
c.1172G>A (p.Gly391Asp)
c.769G>A (n.769G>A)
c.518G>A (p.Gly173Asp)
c.319+2277G>A
11g.71435536C>ACA381701189DHCR7c.1267G>T (p.Gly423Cys)
c.1093G>T (p.Gly365Cys)
c.1318G>T (p.Gly440Cys)
c.1303G>T (p.Gly435Cys)
c.*30G>T (n.*30G>T)
n.1307G>T
c.682G>T (p.Gly228Cys)
c.1171G>T (p.Gly391Cys)
c.768G>T (n.768G>T)
c.517G>T (p.Gly173Cys)
c.319+2276G>T
11g.71435536C=CA1981486875DHCR7c.1267G= (p.Gly423=)
c.1093G= (p.Gly365=)
c.1318G= (p.Gly440=)
c.1303G= (p.Gly435=)
c.*30G= (n.*30G=)
n.1307G=
c.682G= (p.Gly228=)
c.1171G= (p.Gly391=)
c.768G= (n.768G=)
c.517G= (p.Gly173=)
c.319+2276G=
11g.71435536C>GCA381701184DHCR7c.1267G>C (p.Gly423Arg)
c.1093G>C (p.Gly365Arg)
c.1318G>C (p.Gly440Arg)
c.1303G>C (p.Gly435Arg)
c.*30G>C (n.*30G>C)
n.1307G>C
c.682G>C (p.Gly228Arg)
c.1171G>C (p.Gly391Arg)
c.768G>C (n.768G>C)
c.517G>C (p.Gly173Arg)
c.319+2276G>C
11g.71435536C>TCA16619401DHCR7c.1267G>A (p.Gly423Ser)
c.1093G>A (p.Gly365Ser)
c.1318G>A (p.Gly440Ser)
c.1303G>A (p.Gly435Ser)
c.*30G>A (n.*30G>A)
n.1307G>A
c.682G>A (p.Gly228Ser)
c.1171G>A (p.Gly391Ser)
c.768G>A (n.768G>A)
c.517G>A (p.Gly173Ser)
c.319+2276G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435537A>CCA381701191DHCR7c.1266T>G (p.Cys422Trp)
c.1092T>G (p.Cys364Trp)
c.1317T>G (p.Cys439Trp)
c.1302T>G (p.Cys434Trp)
c.*29T>G (n.*29T>G)
n.1306T>G
c.681T>G (p.Cys227Trp)
c.1170T>G (p.Cys390Trp)
c.767T>G (n.767T>G)
c.516T>G (p.Cys172Trp)
c.319+2275T>G
11g.71435537A>GCA475860984DHCR7c.1266T>C (p.Cys422=)
c.1092T>C (p.Cys364=)
c.1317T>C (p.Cys439=)
c.1302T>C (p.Cys434=)
c.*29T>C (n.*29T>C)
n.1306T>C
c.681T>C (p.Cys227=)
c.1170T>C (p.Cys390=)
c.767T>C (n.767T>C)
c.516T>C (p.Cys172=)
c.319+2275T>C
 dbSNP
11g.71435537A>TCA381701194DHCR7c.1266T>A (p.Cys422Ter)
c.1092T>A (p.Cys364Ter)
c.1317T>A (p.Cys439Ter)
c.1302T>A (p.Cys434Ter)
c.*29T>A (n.*29T>A)
n.1306T>A
c.681T>A (p.Cys227Ter)
c.1170T>A (p.Cys390Ter)
c.767T>A (n.767T>A)
c.516T>A (p.Cys172Ter)
c.319+2275T>A
11g.71435538C>ACA381701197DHCR7c.1265G>T (p.Cys422Phe)
c.1091G>T (p.Cys364Phe)
c.1316G>T (p.Cys439Phe)
c.1301G>T (p.Cys434Phe)
c.*28G>T (n.*28G>T)
n.1305G>T
c.680G>T (p.Cys227Phe)
c.1169G>T (p.Cys390Phe)
c.766G>T (n.766G>T)
c.515G>T (p.Cys172Phe)
c.319+2274G>T
11g.71435538C>GCA381701200DHCR7c.1265G>C (p.Cys422Ser)
c.1091G>C (p.Cys364Ser)
c.1316G>C (p.Cys439Ser)
c.1301G>C (p.Cys434Ser)
c.*28G>C (n.*28G>C)
n.1305G>C
c.680G>C (p.Cys227Ser)
c.1169G>C (p.Cys390Ser)
c.766G>C (n.766G>C)
c.515G>C (p.Cys172Ser)
c.319+2274G>C
11g.71435538C>TCA381701201DHCR7c.1265G>A (p.Cys422Tyr)
c.1091G>A (p.Cys364Tyr)
c.1316G>A (p.Cys439Tyr)
c.1301G>A (p.Cys434Tyr)
c.*28G>A (n.*28G>A)
n.1305G>A
c.680G>A (p.Cys227Tyr)
c.1169G>A (p.Cys390Tyr)
c.766G>A (n.766G>A)
c.515G>A (p.Cys172Tyr)
c.319+2274G>A
11g.71435539A=CA1981486876DHCR7c.1264T= (p.Cys422=)
c.1090T= (p.Cys364=)
c.1315T= (p.Cys439=)
c.1300T= (p.Cys434=)
c.*27T= (n.*27T=)
n.1304T=
c.679T= (p.Cys227=)
c.1168T= (p.Cys390=)
c.765T= (n.765T=)
c.514T= (p.Cys172=)
c.319+2273T=
11g.71435539A>CCA381701202DHCR7c.1264T>G (p.Cys422Gly)
c.1090T>G (p.Cys364Gly)
c.1315T>G (p.Cys439Gly)
c.1300T>G (p.Cys434Gly)
c.*27T>G (n.*27T>G)
n.1304T>G
c.679T>G (p.Cys227Gly)
c.1168T>G (p.Cys390Gly)
c.765T>G (n.765T>G)
c.514T>G (p.Cys172Gly)
c.319+2273T>G
11g.71435539A>GCA6162276DHCR7c.1264T>C (p.Cys422Arg)
c.1090T>C (p.Cys364Arg)
c.1315T>C (p.Cys439Arg)
c.1300T>C (p.Cys434Arg)
c.*27T>C (n.*27T>C)
n.1304T>C
c.679T>C (p.Cys227Arg)
c.1168T>C (p.Cys390Arg)
c.765T>C (n.765T>C)
c.514T>C (p.Cys172Arg)
c.319+2273T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435539A>TCA381701208DHCR7c.1264T>A (p.Cys422Ser)
c.1090T>A (p.Cys364Ser)
c.1315T>A (p.Cys439Ser)
c.1300T>A (p.Cys434Ser)
c.*27T>A (n.*27T>A)
n.1304T>A
c.679T>A (p.Cys227Ser)
c.1168T>A (p.Cys390Ser)
c.765T>A (n.765T>A)
c.514T>A (p.Cys172Ser)
c.319+2273T>A
11g.71435548_71435559delCA2529363413DHCR7c.1253_1264del (p.Tyr418_Ala421del)
c.1079_1090del (p.Tyr360_Ala363del)
c.1304_1315del (p.Tyr435_Ala438del)
c.1289_1300del (p.Tyr430_Ala433del)
c.*16_*27del (n.*16_*27del)
n.1293_1304del
c.668_679del (p.Tyr223_Ala226del)
c.1157_1168del (p.Tyr386_Ala389del)
c.754_765del (n.754_765del)
c.503_514del (p.Tyr168_Ala171del)
c.319+2262_319+2273del
11g.71435540G>ACA475860988DHCR7c.1263C>T (p.Ala421=)
c.1089C>T (p.Ala363=)
c.1314C>T (p.Ala438=)
c.1299C>T (p.Ala433=)
c.*26C>T (n.*26C>T)
n.1303C>T
c.678C>T (p.Ala226=)
c.1167C>T (p.Ala389=)
c.764C>T (n.764C>T)
c.513C>T (p.Ala171=)
c.319+2272C>T
11g.71435540G>CCA475860990DHCR7c.1263C>G (p.Ala421=)
c.1089C>G (p.Ala363=)
c.1314C>G (p.Ala438=)
c.1299C>G (p.Ala433=)
c.*26C>G (n.*26C>G)
n.1303C>G
c.678C>G (p.Ala226=)
c.1167C>G (p.Ala389=)
c.764C>G (n.764C>G)
c.513C>G (p.Ala171=)
c.319+2272C>G
11g.71435540G>TCA475860986DHCR7c.1263C>A (p.Ala421=)
c.1089C>A (p.Ala363=)
c.1314C>A (p.Ala438=)
c.1299C>A (p.Ala433=)
c.*26C>A (n.*26C>A)
n.1303C>A
c.678C>A (p.Ala226=)
c.1167C>A (p.Ala389=)
c.764C>A (n.764C>A)
c.513C>A (p.Ala171=)
c.319+2272C>A
 gnomAD v4
11g.71435541G>ACA381701216DHCR7c.1262C>T (p.Ala421Val)
c.1088C>T (p.Ala363Val)
c.1313C>T (p.Ala438Val)
c.1298C>T (p.Ala433Val)
c.*25C>T (n.*25C>T)
n.1302C>T
c.677C>T (p.Ala226Val)
c.1166C>T (p.Ala389Val)
c.763C>T (n.763C>T)
c.512C>T (p.Ala171Val)
c.319+2271C>T
 gnomAD v4
11g.71435541G>CCA381701219DHCR7c.1262C>G (p.Ala421Gly)
c.1088C>G (p.Ala363Gly)
c.1313C>G (p.Ala438Gly)
c.1298C>G (p.Ala433Gly)
c.*25C>G (n.*25C>G)
n.1302C>G
c.677C>G (p.Ala226Gly)
c.1166C>G (p.Ala389Gly)
c.763C>G (n.763C>G)
c.512C>G (p.Ala171Gly)
c.319+2271C>G
11g.71435541G>TCA381701220DHCR7c.1262C>A (p.Ala421Asp)
c.1088C>A (p.Ala363Asp)
c.1313C>A (p.Ala438Asp)
c.1298C>A (p.Ala433Asp)
c.*25C>A (n.*25C>A)
n.1302C>A
c.677C>A (p.Ala226Asp)
c.1166C>A (p.Ala389Asp)
c.763C>A (n.763C>A)
c.512C>A (p.Ala171Asp)
c.319+2271C>A
 gnomAD v4
11g.71435542C>ACA381701227DHCR7c.1261G>T (p.Ala421Ser)
c.1087G>T (p.Ala363Ser)
c.1312G>T (p.Ala438Ser)
c.1297G>T (p.Ala433Ser)
c.*24G>T (n.*24G>T)
n.1301G>T
c.676G>T (p.Ala226Ser)
c.1165G>T (p.Ala389Ser)
c.762G>T (n.762G>T)
c.511G>T (p.Ala171Ser)
c.319+2270G>T
11g.71435542C>GCA381701223DHCR7c.1261G>C (p.Ala421Pro)
c.1087G>C (p.Ala363Pro)
c.1312G>C (p.Ala438Pro)
c.1297G>C (p.Ala433Pro)
c.*24G>C (n.*24G>C)
n.1301G>C
c.676G>C (p.Ala226Pro)
c.1165G>C (p.Ala389Pro)
c.762G>C (n.762G>C)
c.511G>C (p.Ala171Pro)
c.319+2270G>C
11g.71435542C>TCA381701225DHCR7c.1261G>A (p.Ala421Thr)
c.1087G>A (p.Ala363Thr)
c.1312G>A (p.Ala438Thr)
c.1297G>A (p.Ala433Thr)
c.*24G>A (n.*24G>A)
n.1301G>A
c.676G>A (p.Ala226Thr)
c.1165G>A (p.Ala389Thr)
c.762G>A (n.762G>A)
c.511G>A (p.Ala171Thr)
c.319+2270G>A
11g.71435543C>ACA475860992DHCR7c.1260G>T (p.Leu420=)
c.1086G>T (p.Leu362=)
c.1311G>T (p.Leu437=)
c.1296G>T (p.Leu432=)
c.*23G>T (n.*23G>T)
n.1300G>T
c.675G>T (p.Leu225=)
c.1164G>T (p.Leu388=)
c.761G>T (n.761G>T)
c.510G>T (p.Leu170=)
c.319+2269G>T
 COSMIC COSMIC
11g.71435543C=CA1981486877DHCR7c.1260G= (p.Leu420=)
c.1086G= (p.Leu362=)
c.1311G= (p.Leu437=)
c.1296G= (p.Leu432=)
c.*23G= (n.*23G=)
n.1300G=
c.675G= (p.Leu225=)
c.1164G= (p.Leu388=)
c.761G= (n.761G=)
c.510G= (p.Leu170=)
c.319+2269G=
11g.71435543C>GCA475860991DHCR7c.1260G>C (p.Leu420=)
c.1086G>C (p.Leu362=)
c.1311G>C (p.Leu437=)
c.1296G>C (p.Leu432=)
c.*23G>C (n.*23G>C)
n.1300G>C
c.675G>C (p.Leu225=)
c.1164G>C (p.Leu388=)
c.761G>C (n.761G>C)
c.510G>C (p.Leu170=)
c.319+2269G>C
11g.71435543C>TCA6162277DHCR7c.1260G>A (p.Leu420=)
c.1086G>A (p.Leu362=)
c.1311G>A (p.Leu437=)
c.1296G>A (p.Leu432=)
c.*23G>A (n.*23G>A)
n.1300G>A
c.675G>A (p.Leu225=)
c.1164G>A (p.Leu388=)
c.761G>A (n.761G>A)
c.510G>A (p.Leu170=)
c.319+2269G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435544A>CCA381701231DHCR7c.1259T>G (p.Leu420Arg)
c.1085T>G (p.Leu362Arg)
c.1310T>G (p.Leu437Arg)
c.1295T>G (p.Leu432Arg)
c.*22T>G (n.*22T>G)
n.1299T>G
c.674T>G (p.Leu225Arg)
c.1163T>G (p.Leu388Arg)
c.760T>G (n.760T>G)
c.509T>G (p.Leu170Arg)
c.319+2268T>G
11g.71435544A>GCA381701237DHCR7c.1259T>C (p.Leu420Pro)
c.1085T>C (p.Leu362Pro)
c.1310T>C (p.Leu437Pro)
c.1295T>C (p.Leu432Pro)
c.*22T>C (n.*22T>C)
n.1299T>C
c.674T>C (p.Leu225Pro)
c.1163T>C (p.Leu388Pro)
c.760T>C (n.760T>C)
c.509T>C (p.Leu170Pro)
c.319+2268T>C
 gnomAD v4
11g.71435544A>TCA381701239DHCR7c.1259T>A (p.Leu420Gln)
c.1085T>A (p.Leu362Gln)
c.1310T>A (p.Leu437Gln)
c.1295T>A (p.Leu432Gln)
c.*22T>A (n.*22T>A)
n.1299T>A
c.674T>A (p.Leu225Gln)
c.1163T>A (p.Leu388Gln)
c.760T>A (n.760T>A)
c.509T>A (p.Leu170Gln)
c.319+2268T>A
11g.71435545G>ACA475860993DHCR7c.1258C>T (p.Leu420=)
c.1084C>T (p.Leu362=)
c.1309C>T (p.Leu437=)
c.1294C>T (p.Leu432=)
c.*21C>T (n.*21C>T)
n.1298C>T
c.673C>T (p.Leu225=)
c.1162C>T (p.Leu388=)
c.759C>T (n.759C>T)
c.508C>T (p.Leu170=)
c.319+2267C>T
11g.71435545G>CCA381701242DHCR7c.1258C>G (p.Leu420Val)
c.1084C>G (p.Leu362Val)
c.1309C>G (p.Leu437Val)
c.1294C>G (p.Leu432Val)
c.*21C>G (n.*21C>G)
n.1298C>G
c.673C>G (p.Leu225Val)
c.1162C>G (p.Leu388Val)
c.759C>G (n.759C>G)
c.508C>G (p.Leu170Val)
c.319+2267C>G
11g.71435545G>TCA381701243DHCR7c.1258C>A (p.Leu420Met)
c.1084C>A (p.Leu362Met)
c.1309C>A (p.Leu437Met)
c.1294C>A (p.Leu432Met)
c.*21C>A (n.*21C>A)
n.1298C>A
c.673C>A (p.Leu225Met)
c.1162C>A (p.Leu388Met)
c.759C>A (n.759C>A)
c.508C>A (p.Leu170Met)
c.319+2267C>A
11g.71435546G>ACA475860994DHCR7c.1257C>T (p.Cys419=)
c.1083C>T (p.Cys361=)
c.1308C>T (p.Cys436=)
c.1293C>T (p.Cys431=)
c.*20C>T (n.*20C>T)
n.1297C>T
c.672C>T (p.Cys224=)
c.1161C>T (p.Cys387=)
c.758C>T (n.758C>T)
c.507C>T (p.Cys169=)
c.319+2266C>T
11g.71435546G>CCA381701245DHCR7c.1257C>G (p.Cys419Trp)
c.1083C>G (p.Cys361Trp)
c.1308C>G (p.Cys436Trp)
c.1293C>G (p.Cys431Trp)
c.*20C>G (n.*20C>G)
n.1297C>G
c.672C>G (p.Cys224Trp)
c.1161C>G (p.Cys387Trp)
c.758C>G (n.758C>G)
c.507C>G (p.Cys169Trp)
c.319+2266C>G
11g.71435546G>TCA381701246DHCR7c.1257C>A (p.Cys419Ter)
c.1083C>A (p.Cys361Ter)
c.1308C>A (p.Cys436Ter)
c.1293C>A (p.Cys431Ter)
c.*20C>A (n.*20C>A)
n.1297C>A
c.672C>A (p.Cys224Ter)
c.1161C>A (p.Cys387Ter)
c.758C>A (n.758C>A)
c.507C>A (p.Cys169Ter)
c.319+2266C>A
11g.71435547C>ACA381701249DHCR7c.1256G>T (p.Cys419Phe)
c.1082G>T (p.Cys361Phe)
c.1307G>T (p.Cys436Phe)
c.1292G>T (p.Cys431Phe)
c.*19G>T (n.*19G>T)
n.1296G>T
c.671G>T (p.Cys224Phe)
c.1160G>T (p.Cys387Phe)
c.757G>T (n.757G>T)
c.506G>T (p.Cys169Phe)
c.319+2265G>T
 gnomAD v4
11g.71435547C=CA1981486878DHCR7c.1256G= (p.Cys419=)
c.1082G= (p.Cys361=)
c.1307G= (p.Cys436=)
c.1292G= (p.Cys431=)
c.*19G= (n.*19G=)
n.1296G=
c.671G= (p.Cys224=)
c.1160G= (p.Cys387=)
c.757G= (n.757G=)
c.506G= (p.Cys169=)
c.319+2265G=
11g.71435547C>GCA381701250DHCR7c.1256G>C (p.Cys419Ser)
c.1082G>C (p.Cys361Ser)
c.1307G>C (p.Cys436Ser)
c.1292G>C (p.Cys431Ser)
c.*19G>C (n.*19G>C)
n.1296G>C
c.671G>C (p.Cys224Ser)
c.1160G>C (p.Cys387Ser)
c.757G>C (n.757G>C)
c.506G>C (p.Cys169Ser)
c.319+2265G>C
11g.71435547C>TCA381701252DHCR7c.1256G>A (p.Cys419Tyr)
c.1082G>A (p.Cys361Tyr)
c.1307G>A (p.Cys436Tyr)
c.1292G>A (p.Cys431Tyr)
c.*19G>A (n.*19G>A)
n.1296G>A
c.671G>A (p.Cys224Tyr)
c.1160G>A (p.Cys387Tyr)
c.757G>A (n.757G>A)
c.506G>A (p.Cys169Tyr)
c.319+2265G>A
 dbSNP gnomAD v4
11g.71435548A=CA1981486879DHCR7c.1255T= (p.Cys419=)
c.1081T= (p.Cys361=)
c.1306T= (p.Cys436=)
c.1291T= (p.Cys431=)
c.*18T= (n.*18T=)
n.1295T=
c.670T= (p.Cys224=)
c.1159T= (p.Cys387=)
c.756T= (n.756T=)
c.505T= (p.Cys169=)
c.319+2264T=
11g.71435548A>CCA381701256DHCR7c.1255T>G (p.Cys419Gly)
c.1081T>G (p.Cys361Gly)
c.1306T>G (p.Cys436Gly)
c.1291T>G (p.Cys431Gly)
c.*18T>G (n.*18T>G)
n.1295T>G
c.670T>G (p.Cys224Gly)
c.1159T>G (p.Cys387Gly)
c.756T>G (n.756T>G)
c.505T>G (p.Cys169Gly)
c.319+2264T>G
11g.71435548A>GCA381701255DHCR7c.1255T>C (p.Cys419Arg)
c.1081T>C (p.Cys361Arg)
c.1306T>C (p.Cys436Arg)
c.1291T>C (p.Cys431Arg)
c.*18T>C (n.*18T>C)
n.1295T>C
c.670T>C (p.Cys224Arg)
c.1159T>C (p.Cys387Arg)
c.756T>C (n.756T>C)
c.505T>C (p.Cys169Arg)
c.319+2264T>C
 gnomAD v4
11g.71435548A>TCA381701254DHCR7c.1255T>A (p.Cys419Ser)
c.1081T>A (p.Cys361Ser)
c.1306T>A (p.Cys436Ser)
c.1291T>A (p.Cys431Ser)
c.*18T>A (n.*18T>A)
n.1295T>A
c.670T>A (p.Cys224Ser)
c.1159T>A (p.Cys387Ser)
c.756T>A (n.756T>A)
c.505T>A (p.Cys169Ser)
c.319+2264T>A
 dbSNP gnomAD v4
11g.71435549G>ACA475860997DHCR7c.1254C>T (p.Tyr418=)
c.1080C>T (p.Tyr360=)
c.1305C>T (p.Tyr435=)
c.1290C>T (p.Tyr430=)
c.*17C>T (n.*17C>T)
n.1294C>T
c.669C>T (p.Tyr223=)
c.1158C>T (p.Tyr386=)
c.755C>T (n.755C>T)
c.504C>T (p.Tyr168=)
c.319+2263C>T
 ClinVar dbSNP gnomAD v4
11g.71435549G>CCA381701257DHCR7c.1254C>G (p.Tyr418Ter)
c.1080C>G (p.Tyr360Ter)
c.1305C>G (p.Tyr435Ter)
c.1290C>G (p.Tyr430Ter)
c.*17C>G (n.*17C>G)
n.1294C>G
c.669C>G (p.Tyr223Ter)
c.1158C>G (p.Tyr386Ter)
c.755C>G (n.755C>G)
c.504C>G (p.Tyr168Ter)
c.319+2263C>G
11g.71435549G=CA1981486880DHCR7c.1254C= (p.Tyr418=)
c.1080C= (p.Tyr360=)
c.1305C= (p.Tyr435=)
c.1290C= (p.Tyr430=)
c.*17C= (n.*17C=)
n.1294C=
c.669C= (p.Tyr223=)
c.1158C= (p.Tyr386=)
c.755C= (n.755C=)
c.504C= (p.Tyr168=)
c.319+2263C=
11g.71435549G>TCA381701259DHCR7c.1254C>A (p.Tyr418Ter)
c.1080C>A (p.Tyr360Ter)
c.1305C>A (p.Tyr435Ter)
c.1290C>A (p.Tyr430Ter)
c.*17C>A (n.*17C>A)
n.1294C>A
c.669C>A (p.Tyr223Ter)
c.1158C>A (p.Tyr386Ter)
c.755C>A (n.755C>A)
c.504C>A (p.Tyr168Ter)
c.319+2263C>A
11g.71435550T>ACA381701261DHCR7c.1253A>T (p.Tyr418Phe)
c.1079A>T (p.Tyr360Phe)
c.1304A>T (p.Tyr435Phe)
c.1289A>T (p.Tyr430Phe)
c.*16A>T (n.*16A>T)
n.1293A>T
c.668A>T (p.Tyr223Phe)
c.1157A>T (p.Tyr386Phe)
c.754A>T (n.754A>T)
c.503A>T (p.Tyr168Phe)
c.319+2262A>T
11g.71435550T>CCA224324092DHCR7c.1253A>G (p.Tyr418Cys)
c.1079A>G (p.Tyr360Cys)
c.1304A>G (p.Tyr435Cys)
c.1289A>G (p.Tyr430Cys)
c.*16A>G (n.*16A>G)
n.1293A>G
c.668A>G (p.Tyr223Cys)
c.1157A>G (p.Tyr386Cys)
c.754A>G (n.754A>G)
c.503A>G (p.Tyr168Cys)
c.319+2262A>G
 dbSNP gnomAD v3 gnomAD v4
11g.71435550T>GCA381701265DHCR7c.1253A>C (p.Tyr418Ser)
c.1079A>C (p.Tyr360Ser)
c.1304A>C (p.Tyr435Ser)
c.1289A>C (p.Tyr430Ser)
c.*16A>C (n.*16A>C)
n.1293A>C
c.668A>C (p.Tyr223Ser)
c.1157A>C (p.Tyr386Ser)
c.754A>C (n.754A>C)
c.503A>C (p.Tyr168Ser)
c.319+2262A>C
11g.71435550T=CA1981486881DHCR7c.1253A= (p.Tyr418=)
c.1079A= (p.Tyr360=)
c.1304A= (p.Tyr435=)
c.1289A= (p.Tyr430=)
c.*16A= (n.*16A=)
n.1293A=
c.668A= (p.Tyr223=)
c.1157A= (p.Tyr386=)
c.754A= (n.754A=)
c.503A= (p.Tyr168=)
c.319+2262A=
11g.71435551A>CCA381701267DHCR7c.1252T>G (p.Tyr418Asp)
c.1078T>G (p.Tyr360Asp)
c.1303T>G (p.Tyr435Asp)
c.1288T>G (p.Tyr430Asp)
c.*15T>G (n.*15T>G)
n.1292T>G
c.667T>G (p.Tyr223Asp)
c.1156T>G (p.Tyr386Asp)
c.753T>G (n.753T>G)
c.502T>G (p.Tyr168Asp)
c.319+2261T>G
11g.71435551A>GCA381701268DHCR7c.1252T>C (p.Tyr418His)
c.1078T>C (p.Tyr360His)
c.1303T>C (p.Tyr435His)
c.1288T>C (p.Tyr430His)
c.*15T>C (n.*15T>C)
n.1292T>C
c.667T>C (p.Tyr223His)
c.1156T>C (p.Tyr386His)
c.753T>C (n.753T>C)
c.502T>C (p.Tyr168His)
c.319+2261T>C
11g.71435551A>TCA381701270DHCR7c.1252T>A (p.Tyr418Asn)
c.1078T>A (p.Tyr360Asn)
c.1303T>A (p.Tyr435Asn)
c.1288T>A (p.Tyr430Asn)
c.*15T>A (n.*15T>A)
n.1292T>A
c.667T>A (p.Tyr223Asn)
c.1156T>A (p.Tyr386Asn)
c.753T>A (n.753T>A)
c.502T>A (p.Tyr168Asn)
c.319+2261T>A
11g.71435552G>ACA6162278DHCR7c.1251C>T (p.Ala417=)
c.1077C>T (p.Ala359=)
c.1302C>T (p.Ala434=)
c.1287C>T (p.Ala429=)
c.*14C>T (n.*14C>T)
n.1291C>T
c.666C>T (p.Ala222=)
c.1155C>T (p.Ala385=)
c.752C>T (n.752C>T)
c.501C>T (p.Ala167=)
c.319+2260C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435552G>CCA475861001DHCR7c.1251C>G (p.Ala417=)
c.1077C>G (p.Ala359=)
c.1302C>G (p.Ala434=)
c.1287C>G (p.Ala429=)
c.*14C>G (n.*14C>G)
n.1291C>G
c.666C>G (p.Ala222=)
c.1155C>G (p.Ala385=)
c.752C>G (n.752C>G)
c.501C>G (p.Ala167=)
c.319+2260C>G
11g.71435552G=CA1981486882DHCR7c.1251C= (p.Ala417=)
c.1077C= (p.Ala359=)
c.1302C= (p.Ala434=)
c.1287C= (p.Ala429=)
c.*14C= (n.*14C=)
n.1291C=
c.666C= (p.Ala222=)
c.1155C= (p.Ala385=)
c.752C= (n.752C=)
c.501C= (p.Ala167=)
c.319+2260C=
11g.71435552G>TCA475861002DHCR7c.1251C>A (p.Ala417=)
c.1077C>A (p.Ala359=)
c.1302C>A (p.Ala434=)
c.1287C>A (p.Ala429=)
c.*14C>A (n.*14C>A)
n.1291C>A
c.666C>A (p.Ala222=)
c.1155C>A (p.Ala385=)
c.752C>A (n.752C>A)
c.501C>A (p.Ala167=)
c.319+2260C>A
 gnomAD v4
11g.71435553G>ACA224324098DHCR7c.1250C>T (p.Ala417Val)
c.1076C>T (p.Ala359Val)
c.1301C>T (p.Ala434Val)
c.1286C>T (p.Ala429Val)
c.*13C>T (n.*13C>T)
n.1290C>T
c.665C>T (p.Ala222Val)
c.1154C>T (p.Ala385Val)
c.751C>T (n.751C>T)
c.500C>T (p.Ala167Val)
c.319+2259C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435553G>CCA381701273DHCR7c.1250C>G (p.Ala417Gly)
c.1076C>G (p.Ala359Gly)
c.1301C>G (p.Ala434Gly)
c.1286C>G (p.Ala429Gly)
c.*13C>G (n.*13C>G)
n.1290C>G
c.665C>G (p.Ala222Gly)
c.1154C>G (p.Ala385Gly)
c.751C>G (n.751C>G)
c.500C>G (p.Ala167Gly)
c.319+2259C>G
 COSMIC COSMIC
11g.71435553G=CA1981486883DHCR7c.1250C= (p.Ala417=)
c.1076C= (p.Ala359=)
c.1301C= (p.Ala434=)
c.1286C= (p.Ala429=)
c.*13C= (n.*13C=)
n.1290C=
c.665C= (p.Ala222=)
c.1154C= (p.Ala385=)
c.751C= (n.751C=)
c.500C= (p.Ala167=)
c.319+2259C=
11g.71435553G>TCA381701276DHCR7c.1250C>A (p.Ala417Asp)
c.1076C>A (p.Ala359Asp)
c.1301C>A (p.Ala434Asp)
c.1286C>A (p.Ala429Asp)
c.*13C>A (n.*13C>A)
n.1290C>A
c.665C>A (p.Ala222Asp)
c.1154C>A (p.Ala385Asp)
c.751C>A (n.751C>A)
c.500C>A (p.Ala167Asp)
c.319+2259C>A
 gnomAD v4
11g.71435553_71435555dupCA2614857184DHCR7c.1248_1250dup (p.Ala417_Tyr418insAla)
c.1074_1076dup (p.Ala359_Tyr360insAla)
c.1299_1301dup (p.Ala434_Tyr435insAla)
c.1284_1286dup (p.Ala429_Tyr430insAla)
c.*11_*13dup (n.*11_*13dup)
n.1288_1290dup
c.663_665dup (p.Ala222_Tyr223insAla)
c.1152_1154dup (p.Ala385_Tyr386insAla)
c.749_751dup (n.749_751dup)
c.498_500dup (p.Ala167_Tyr168insAla)
c.319+2257_319+2259dup
 gnomAD v4
11g.71435554C>ACA381701279DHCR7c.1249G>T (p.Ala417Ser)
c.1075G>T (p.Ala359Ser)
c.1300G>T (p.Ala434Ser)
c.1285G>T (p.Ala429Ser)
c.*12G>T (n.*12G>T)
n.1289G>T
c.664G>T (p.Ala222Ser)
c.1153G>T (p.Ala385Ser)
c.750G>T (n.750G>T)
c.499G>T (p.Ala167Ser)
c.319+2258G>T
 gnomAD v4
11g.71435554C>GCA381701281DHCR7c.1249G>C (p.Ala417Pro)
c.1075G>C (p.Ala359Pro)
c.1300G>C (p.Ala434Pro)
c.1285G>C (p.Ala429Pro)
c.*12G>C (n.*12G>C)
n.1289G>C
c.664G>C (p.Ala222Pro)
c.1153G>C (p.Ala385Pro)
c.750G>C (n.750G>C)
c.499G>C (p.Ala167Pro)
c.319+2258G>C
11g.71435554C>TCA381701277DHCR7c.1249G>A (p.Ala417Thr)
c.1075G>A (p.Ala359Thr)
c.1300G>A (p.Ala434Thr)
c.1285G>A (p.Ala429Thr)
c.*12G>A (n.*12G>A)
n.1289G>A
c.664G>A (p.Ala222Thr)
c.1153G>A (p.Ala385Thr)
c.750G>A (n.750G>A)
c.499G>A (p.Ala167Thr)
c.319+2258G>A
11g.71435555C>ACA475861006DHCR7c.1248G>T (p.Leu416=)
c.1074G>T (p.Leu358=)
c.1299G>T (p.Leu433=)
c.1284G>T (p.Leu428=)
c.*11G>T (n.*11G>T)
n.1288G>T
c.663G>T (p.Leu221=)
c.1152G>T (p.Leu384=)
c.749G>T (n.749G>T)
c.498G>T (p.Leu166=)
c.319+2257G>T
11g.71435555C>GCA475861007DHCR7c.1248G>C (p.Leu416=)
c.1074G>C (p.Leu358=)
c.1299G>C (p.Leu433=)
c.1284G>C (p.Leu428=)
c.*11G>C (n.*11G>C)
n.1288G>C
c.663G>C (p.Leu221=)
c.1152G>C (p.Leu384=)
c.749G>C (n.749G>C)
c.498G>C (p.Leu166=)
c.319+2257G>C
11g.71435555C>TCA475861008DHCR7c.1248G>A (p.Leu416=)
c.1074G>A (p.Leu358=)
c.1299G>A (p.Leu433=)
c.1284G>A (p.Leu428=)
c.*11G>A (n.*11G>A)
n.1288G>A
c.663G>A (p.Leu221=)
c.1152G>A (p.Leu384=)
c.749G>A (n.749G>A)
c.498G>A (p.Leu166=)
c.319+2257G>A
11g.71435556A>CCA381701284DHCR7c.1247T>G (p.Leu416Arg)
c.1073T>G (p.Leu358Arg)
c.1298T>G (p.Leu433Arg)
c.1283T>G (p.Leu428Arg)
c.*10T>G (n.*10T>G)
n.1287T>G
c.662T>G (p.Leu221Arg)
c.1151T>G (p.Leu384Arg)
c.748T>G (n.748T>G)
c.497T>G (p.Leu166Arg)
c.319+2256T>G
11g.71435556A>GCA381701285DHCR7c.1247T>C (p.Leu416Pro)
c.1073T>C (p.Leu358Pro)
c.1298T>C (p.Leu433Pro)
c.1283T>C (p.Leu428Pro)
c.*10T>C (n.*10T>C)
n.1287T>C
c.662T>C (p.Leu221Pro)
c.1151T>C (p.Leu384Pro)
c.748T>C (n.748T>C)
c.497T>C (p.Leu166Pro)
c.319+2256T>C
 COSMIC COSMIC
11g.71435556A>TCA381701287DHCR7c.1247T>A (p.Leu416Gln)
c.1073T>A (p.Leu358Gln)
c.1298T>A (p.Leu433Gln)
c.1283T>A (p.Leu428Gln)
c.*10T>A (n.*10T>A)
n.1287T>A
c.662T>A (p.Leu221Gln)
c.1151T>A (p.Leu384Gln)
c.748T>A (n.748T>A)
c.497T>A (p.Leu166Gln)
c.319+2256T>A
11g.71435557G>ACA475861009DHCR7c.1246C>T (p.Leu416=)
c.1072C>T (p.Leu358=)
c.1297C>T (p.Leu433=)
c.1282C>T (p.Leu428=)
c.*9C>T (n.*9C>T)
n.1286C>T
c.661C>T (p.Leu221=)
c.1150C>T (p.Leu384=)
c.747C>T (n.747C>T)
c.496C>T (p.Leu166=)
c.319+2255C>T
11g.71435557G>CCA381701289DHCR7c.1246C>G (p.Leu416Val)
c.1072C>G (p.Leu358Val)
c.1297C>G (p.Leu433Val)
c.1282C>G (p.Leu428Val)
c.*9C>G (n.*9C>G)
n.1286C>G
c.661C>G (p.Leu221Val)
c.1150C>G (p.Leu384Val)
c.747C>G (n.747C>G)
c.496C>G (p.Leu166Val)
c.319+2255C>G
 gnomAD v4
11g.71435557G>TCA381701291DHCR7c.1246C>A (p.Leu416Met)
c.1072C>A (p.Leu358Met)
c.1297C>A (p.Leu433Met)
c.1282C>A (p.Leu428Met)
c.*9C>A (n.*9C>A)
n.1286C>A
c.661C>A (p.Leu221Met)
c.1150C>A (p.Leu384Met)
c.747C>A (n.747C>A)
c.496C>A (p.Leu166Met)
c.319+2255C>A
 gnomAD v4
11g.71435558G>ACA475861013DHCR7c.1245C>T (p.Ser415=)
c.1071C>T (p.Ser357=)
c.1296C>T (p.Ser432=)
c.1281C>T (p.Ser427=)
c.*8C>T (n.*8C>T)
n.1285C>T
c.660C>T (p.Ser220=)
c.1149C>T (p.Ser383=)
c.746C>T (n.746C>T)
c.495C>T (p.Ser165=)
c.319+2254C>T
11g.71435558G>CCA381701295DHCR7c.1245C>G (p.Ser415Arg)
c.1071C>G (p.Ser357Arg)
c.1296C>G (p.Ser432Arg)
c.1281C>G (p.Ser427Arg)
c.*8C>G (n.*8C>G)
n.1285C>G
c.660C>G (p.Ser220Arg)
c.1149C>G (p.Ser383Arg)
c.746C>G (n.746C>G)
c.495C>G (p.Ser165Arg)
c.319+2254C>G
11g.71435558G>TCA381701293DHCR7c.1245C>A (p.Ser415Arg)
c.1071C>A (p.Ser357Arg)
c.1296C>A (p.Ser432Arg)
c.1281C>A (p.Ser427Arg)
c.*8C>A (n.*8C>A)
n.1285C>A
c.660C>A (p.Ser220Arg)
c.1149C>A (p.Ser383Arg)
c.746C>A (n.746C>A)
c.495C>A (p.Ser165Arg)
c.319+2254C>A
 gnomAD v4
11g.71435559C>ACA381701297DHCR7c.1244G>T (p.Ser415Ile)
c.1070G>T (p.Ser357Ile)
c.1295G>T (p.Ser432Ile)
c.1280G>T (p.Ser427Ile)
c.*7G>T (n.*7G>T)
n.1284G>T
c.659G>T (p.Ser220Ile)
c.1148G>T (p.Ser383Ile)
c.745G>T (n.745G>T)
c.494G>T (p.Ser165Ile)
c.319+2253G>T
11g.71435559C>GCA381701298DHCR7c.1244G>C (p.Ser415Thr)
c.1070G>C (p.Ser357Thr)
c.1295G>C (p.Ser432Thr)
c.1280G>C (p.Ser427Thr)
c.*7G>C (n.*7G>C)
n.1284G>C
c.659G>C (p.Ser220Thr)
c.1148G>C (p.Ser383Thr)
c.745G>C (n.745G>C)
c.494G>C (p.Ser165Thr)
c.319+2253G>C
11g.71435559C>TCA381701300DHCR7c.1244G>A (p.Ser415Asn)
c.1070G>A (p.Ser357Asn)
c.1295G>A (p.Ser432Asn)
c.1280G>A (p.Ser427Asn)
c.*7G>A (n.*7G>A)
n.1284G>A
c.659G>A (p.Ser220Asn)
c.1148G>A (p.Ser383Asn)
c.745G>A (n.745G>A)
c.494G>A (p.Ser165Asn)
c.319+2253G>A
11g.71435560T>ACA381701302DHCR7c.1243A>T (p.Ser415Cys)
c.1069A>T (p.Ser357Cys)
c.1294A>T (p.Ser432Cys)
c.1279A>T (p.Ser427Cys)
c.*6A>T (n.*6A>T)
n.1283A>T
c.658A>T (p.Ser220Cys)
c.1147A>T (p.Ser383Cys)
c.744A>T (n.744A>T)
c.493A>T (p.Ser165Cys)
c.319+2252A>T
11g.71435560T>CCA6162279DHCR7c.1243A>G (p.Ser415Gly)
c.1069A>G (p.Ser357Gly)
c.1294A>G (p.Ser432Gly)
c.1279A>G (p.Ser427Gly)
c.*6A>G (n.*6A>G)
n.1283A>G
c.658A>G (p.Ser220Gly)
c.1147A>G (p.Ser383Gly)
c.744A>G (n.744A>G)
c.493A>G (p.Ser165Gly)
c.319+2252A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435560T>GCA381701303DHCR7c.1243A>C (p.Ser415Arg)
c.1069A>C (p.Ser357Arg)
c.1294A>C (p.Ser432Arg)
c.1279A>C (p.Ser427Arg)
c.*6A>C (n.*6A>C)
n.1283A>C
c.658A>C (p.Ser220Arg)
c.1147A>C (p.Ser383Arg)
c.744A>C (n.744A>C)
c.493A>C (p.Ser165Arg)
c.319+2252A>C
11g.71435560T=CA1981486884DHCR7c.1243A= (p.Ser415=)
c.1069A= (p.Ser357=)
c.1294A= (p.Ser432=)
c.1279A= (p.Ser427=)
c.*6A= (n.*6A=)
n.1283A=
c.658A= (p.Ser220=)
c.1147A= (p.Ser383=)
c.744A= (n.744A=)
c.493A= (p.Ser165=)
c.319+2252A=
11g.71435561G>ACA475861018DHCR7c.1242C>T (p.Gly414=)
c.1068C>T (p.Gly356=)
c.1293C>T (p.Gly431=)
c.1278C>T (p.Gly426=)
c.*5C>T (n.*5C>T)
n.1282C>T
c.657C>T (p.Gly219=)
c.1146C>T (p.Gly382=)
c.743C>T (n.743C>T)
c.492C>T (p.Gly164=)
c.319+2251C>T
 ClinVar dbSNP gnomAD v4
11g.71435561G>CCA475861020DHCR7c.1242C>G (p.Gly414=)
c.1068C>G (p.Gly356=)
c.1293C>G (p.Gly431=)
c.1278C>G (p.Gly426=)
c.*5C>G (n.*5C>G)
n.1282C>G
c.657C>G (p.Gly219=)
c.1146C>G (p.Gly382=)
c.743C>G (n.743C>G)
c.492C>G (p.Gly164=)
c.319+2251C>G
11g.71435561G>TCA475861019DHCR7c.1242C>A (p.Gly414=)
c.1068C>A (p.Gly356=)
c.1293C>A (p.Gly431=)
c.1278C>A (p.Gly426=)
c.*5C>A (n.*5C>A)
n.1282C>A
c.657C>A (p.Gly219=)
c.1146C>A (p.Gly382=)
c.743C>A (n.743C>A)
c.492C>A (p.Gly164=)
c.319+2251C>A
11g.71435562C>ACA381701307DHCR7c.1241G>T (p.Gly414Val)
c.1067G>T (p.Gly356Val)
c.1292G>T (p.Gly431Val)
c.1277G>T (p.Gly426Val)
c.*4G>T (n.*4G>T)
n.1281G>T
c.656G>T (p.Gly219Val)
c.1145G>T (p.Gly382Val)
c.742G>T (n.742G>T)
c.491G>T (p.Gly164Val)
c.319+2250G>T
11g.71435562C>GCA381701305DHCR7c.1241G>C (p.Gly414Ala)
c.1067G>C (p.Gly356Ala)
c.1292G>C (p.Gly431Ala)
c.1277G>C (p.Gly426Ala)
c.*4G>C (n.*4G>C)
n.1281G>C
c.656G>C (p.Gly219Ala)
c.1145G>C (p.Gly382Ala)
c.742G>C (n.742G>C)
c.491G>C (p.Gly164Ala)
c.319+2250G>C
11g.71435562C>TCA381701304DHCR7c.1241G>A (p.Gly414Asp)
c.1067G>A (p.Gly356Asp)
c.1292G>A (p.Gly431Asp)
c.1277G>A (p.Gly426Asp)
c.*4G>A (n.*4G>A)
n.1281G>A
c.656G>A (p.Gly219Asp)
c.1145G>A (p.Gly382Asp)
c.742G>A (n.742G>A)
c.491G>A (p.Gly164Asp)
c.319+2250G>A
 gnomAD v4
11g.71435563C>ACA381701308DHCR7c.1240G>T (p.Gly414Cys)
c.1066G>T (p.Gly356Cys)
c.1291G>T (p.Gly431Cys)
c.1276G>T (p.Gly426Cys)
c.*3G>T (n.*3G>T)
n.1280G>T
c.655G>T (p.Gly219Cys)
c.1144G>T (p.Gly382Cys)
c.741G>T (n.741G>T)
c.490G>T (p.Gly164Cys)
c.319+2249G>T
 gnomAD v4
11g.71435563C=CA1981486885DHCR7c.1240G= (p.Gly414=)
c.1066G= (p.Gly356=)
c.1291G= (p.Gly431=)
c.1276G= (p.Gly426=)
c.*3G= (n.*3G=)
n.1280G=
c.655G= (p.Gly219=)
c.1144G= (p.Gly382=)
c.741G= (n.741G=)
c.490G= (p.Gly164=)
c.319+2249G=
11g.71435563C>GCA6162280DHCR7c.1240G>C (p.Gly414Arg)
c.1066G>C (p.Gly356Arg)
c.1291G>C (p.Gly431Arg)
c.1276G>C (p.Gly426Arg)
c.*3G>C (n.*3G>C)
n.1280G>C
c.655G>C (p.Gly219Arg)
c.1144G>C (p.Gly382Arg)
c.741G>C (n.741G>C)
c.490G>C (p.Gly164Arg)
c.319+2249G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435563C>TCA381701310DHCR7c.1240G>A (p.Gly414Ser)
c.1066G>A (p.Gly356Ser)
c.1291G>A (p.Gly431Ser)
c.1276G>A (p.Gly426Ser)
c.*3G>A (n.*3G>A)
n.1280G>A
c.655G>A (p.Gly219Ser)
c.1144G>A (p.Gly382Ser)
c.741G>A (n.741G>A)
c.490G>A (p.Gly164Ser)
c.319+2249G>A
11g.71435564C>ACA381701313DHCR7c.1239G>T (p.Met413Ile)
c.1065G>T (p.Met355Ile)
c.1290G>T (p.Met430Ile)
c.1275G>T (p.Met425Ile)
c.*2G>T (n.*2G>T)
n.1279G>T
c.654G>T (p.Met218Ile)
c.1143G>T (p.Met381Ile)
c.740G>T (n.740G>T)
c.489G>T (p.Met163Ile)
c.319+2248G>T
 gnomAD v4
11g.71435564C>GCA381701317DHCR7c.1239G>C (p.Met413Ile)
c.1065G>C (p.Met355Ile)
c.1290G>C (p.Met430Ile)
c.1275G>C (p.Met425Ile)
c.*2G>C (n.*2G>C)
n.1279G>C
c.654G>C (p.Met218Ile)
c.1143G>C (p.Met381Ile)
c.740G>C (n.740G>C)
c.489G>C (p.Met163Ile)
c.319+2248G>C
11g.71435564C>TCA381701315DHCR7c.1239G>A (p.Met413Ile)
c.1065G>A (p.Met355Ile)
c.1290G>A (p.Met430Ile)
c.1275G>A (p.Met425Ile)
c.*2G>A (n.*2G>A)
n.1279G>A
c.654G>A (p.Met218Ile)
c.1143G>A (p.Met381Ile)
c.740G>A (n.740G>A)
c.489G>A (p.Met163Ile)
c.319+2248G>A
11g.71435565A>CCA381701319DHCR7c.1238T>G (p.Met413Arg)
c.1064T>G (p.Met355Arg)
c.1289T>G (p.Met430Arg)
c.1274T>G (p.Met425Arg)
c.*1T>G (n.*1T>G)
n.1278T>G
c.653T>G (p.Met218Arg)
c.1142T>G (p.Met381Arg)
c.739T>G (n.739T>G)
c.488T>G (p.Met163Arg)
c.319+2247T>G
11g.71435565A>GCA381701320DHCR7c.1238T>C (p.Met413Thr)
c.1064T>C (p.Met355Thr)
c.1289T>C (p.Met430Thr)
c.1274T>C (p.Met425Thr)
c.*1T>C (n.*1T>C)
n.1278T>C
c.653T>C (p.Met218Thr)
c.1142T>C (p.Met381Thr)
c.739T>C (n.739T>C)
c.488T>C (p.Met163Thr)
c.319+2247T>C
11g.71435565A>TCA381701322DHCR7c.1238T>A (p.Met413Lys)
c.1064T>A (p.Met355Lys)
c.1289T>A (p.Met430Lys)
c.1274T>A (p.Met425Lys)
c.*1T>A (n.*1T>A)
n.1278T>A
c.653T>A (p.Met218Lys)
c.1142T>A (p.Met381Lys)
c.739T>A (n.739T>A)
c.488T>A (p.Met163Lys)
c.319+2247T>A
11g.71435566T>ACA381701324DHCR7c.1237A>T (p.Met413Leu)
c.1063A>T (p.Met355Leu)
c.1288A>T (p.Met430Leu)
c.1273A>T (p.Met425Leu)
c.1245A>T (p.Ter415Cys)
n.1277A>T
c.652A>T (p.Met218Leu)
c.1141A>T (p.Met381Leu)
c.738A>T (p.Ter246Cys)
c.487A>T (p.Met163Leu)
c.319+2246A>T
c.1371A>T (p.Ter457Cys)
11g.71435566T>CCA381701326DHCR7c.1237A>G (p.Met413Val)
c.1063A>G (p.Met355Val)
c.1288A>G (p.Met430Val)
c.1273A>G (p.Met425Val)
c.1245A>G (p.Ter415Trp)
n.1277A>G
c.652A>G (p.Met218Val)
c.1141A>G (p.Met381Val)
c.738A>G (p.Ter246Trp)
c.487A>G (p.Met163Val)
c.319+2246A>G
c.1371A>G (p.Ter457Trp)
11g.71435566T>GCA381701328DHCR7c.1237A>C (p.Met413Leu)
c.1063A>C (p.Met355Leu)
c.1288A>C (p.Met430Leu)
c.1273A>C (p.Met425Leu)
c.1245A>C (p.Ter415Cys)
n.1277A>C
c.652A>C (p.Met218Leu)
c.1141A>C (p.Met381Leu)
c.738A>C (p.Ter246Cys)
c.487A>C (p.Met163Leu)
c.319+2246A>C
c.1371A>C (p.Ter457Cys)
11g.71435567C>ACA381701329DHCR7c.1236G>T (p.Leu412=)
c.1062G>T (p.Leu354=)
c.1287G>T (p.Leu429=)
c.1272G>T (p.Leu424=)
c.1244G>T (p.Ter415Leu)
n.1276G>T
c.651G>T (p.Leu217=)
c.1140G>T (p.Leu380=)
c.737G>T (p.Ter246Leu)
c.486G>T (p.Leu162=)
c.319+2245G>T
c.1370G>T (p.Ter457Leu)
11g.71435567C>GCA381701331DHCR7c.1236G>C (p.Leu412=)
c.1062G>C (p.Leu354=)
c.1287G>C (p.Leu429=)
c.1272G>C (p.Leu424=)
c.1244G>C (p.Ter415Ser)
n.1276G>C
c.651G>C (p.Leu217=)
c.1140G>C (p.Leu380=)
c.737G>C (p.Ter246Ser)
c.486G>C (p.Leu162=)
c.319+2245G>C
c.1370G>C (p.Ter457Ser)
 ClinVar
11g.71435567C>TCA475861026DHCR7c.1236G>A (p.Leu412=)
c.1062G>A (p.Leu354=)
c.1287G>A (p.Leu429=)
c.1272G>A (p.Leu424=)
c.1244G>A (p.Ter415=)
n.1276G>A
c.651G>A (p.Leu217=)
c.1140G>A (p.Leu380=)
c.737G>A (p.Ter246=)
c.486G>A (p.Leu162=)
c.319+2245G>A
c.1370G>A (p.Ter457=)
11g.71435568A>CCA381701334DHCR7c.1235T>G (p.Leu412Arg)
c.1061T>G (p.Leu354Arg)
c.1286T>G (p.Leu429Arg)
c.1271T>G (p.Leu424Arg)
c.1243T>G (p.Ter415Gly)
n.1275T>G
c.650T>G (p.Leu217Arg)
c.1139T>G (p.Leu380Arg)
c.736T>G (p.Ter246Gly)
c.485T>G (p.Leu162Arg)
c.319+2244T>G
c.1369T>G (p.Ter457Gly)
11g.71435568A>GCA381701335DHCR7c.1235T>C (p.Leu412Pro)
c.1061T>C (p.Leu354Pro)
c.1286T>C (p.Leu429Pro)
c.1271T>C (p.Leu424Pro)
c.1243T>C (p.Ter415Arg)
n.1275T>C
c.650T>C (p.Leu217Pro)
c.1139T>C (p.Leu380Pro)
c.736T>C (p.Ter246Arg)
c.485T>C (p.Leu162Pro)
c.319+2244T>C
c.1369T>C (p.Ter457Arg)
11g.71435568A>TCA381701336DHCR7c.1235T>A (p.Leu412Gln)
c.1061T>A (p.Leu354Gln)
c.1286T>A (p.Leu429Gln)
c.1271T>A (p.Leu424Gln)
c.1243T>A (p.Ter415Arg)
n.1275T>A
c.650T>A (p.Leu217Gln)
c.1139T>A (p.Leu380Gln)
c.736T>A (p.Ter246Arg)
c.485T>A (p.Leu162Gln)
c.319+2244T>A
c.1369T>A (p.Ter457Arg)
11g.71435569G>ACA475861030DHCR7c.1234C>T (p.Leu412=)
c.1060C>T (p.Leu354=)
c.1285C>T (p.Leu429=)
c.1270C>T (p.Leu424=)
c.1242C>T (p.Thr414=)
n.1274C>T
c.649C>T (p.Leu217=)
c.1138C>T (p.Leu380=)
c.735C>T (p.Thr245=)
c.484C>T (p.Leu162=)
c.319+2243C>T
c.1368C>T (p.Thr456=)
 ClinVar dbSNP gnomAD v4
11g.71435569G>CCA381701338DHCR7c.1234C>G (p.Leu412Val)
c.1060C>G (p.Leu354Val)
c.1285C>G (p.Leu429Val)
c.1270C>G (p.Leu424Val)
c.1242C>G (p.Thr414=)
n.1274C>G
c.649C>G (p.Leu217Val)
c.1138C>G (p.Leu380Val)
c.735C>G (p.Thr245=)
c.484C>G (p.Leu162Val)
c.319+2243C>G
c.1368C>G (p.Thr456=)
11g.71435569G=CA1981486886DHCR7c.1234C= (p.Leu412=)
c.1060C= (p.Leu354=)
c.1285C= (p.Leu429=)
c.1270C= (p.Leu424=)
c.1242C= (p.Thr414=)
n.1274C=
c.649C= (p.Leu217=)
c.1138C= (p.Leu380=)
c.735C= (p.Thr245=)
c.484C= (p.Leu162=)
c.319+2243C=
c.1368C= (p.Thr456=)
11g.71435569G>TCA381701340DHCR7c.1234C>A (p.Leu412Met)
c.1060C>A (p.Leu354Met)
c.1285C>A (p.Leu429Met)
c.1270C>A (p.Leu424Met)
c.1242C>A (p.Thr414=)
n.1274C>A
c.649C>A (p.Leu217Met)
c.1138C>A (p.Leu380Met)
c.735C>A (p.Thr245=)
c.484C>A (p.Leu162Met)
c.319+2243C>A
c.1368C>A (p.Thr456=)
11g.71435570G>ACA381701341DHCR7c.1233C>T (p.Asp411=)
c.1059C>T (p.Asp353=)
c.1284C>T (p.Asp428=)
c.1269C>T (p.Asp423=)
c.1241C>T (p.Thr414Ile)
n.1273C>T
c.648C>T (p.Asp216=)
c.1137C>T (p.Asp379=)
c.734C>T (p.Thr245Ile)
c.483C>T (p.Asp161=)
c.319+2242C>T
c.1367C>T (p.Thr456Ile)
11g.71435570G>CCA381701344DHCR7c.1233C>G (p.Asp411Glu)
c.1059C>G (p.Asp353Glu)
c.1284C>G (p.Asp428Glu)
c.1269C>G (p.Asp423Glu)
c.1241C>G (p.Thr414Ser)
n.1273C>G
c.648C>G (p.Asp216Glu)
c.1137C>G (p.Asp379Glu)
c.734C>G (p.Thr245Ser)
c.483C>G (p.Asp161Glu)
c.319+2242C>G
c.1367C>G (p.Thr456Ser)
11g.71435570G>TCA381701342DHCR7c.1233C>A (p.Asp411Glu)
c.1059C>A (p.Asp353Glu)
c.1284C>A (p.Asp428Glu)
c.1269C>A (p.Asp423Glu)
c.1241C>A (p.Thr414Asn)
n.1273C>A
c.648C>A (p.Asp216Glu)
c.1137C>A (p.Asp379Glu)
c.734C>A (p.Thr245Asn)
c.483C>A (p.Asp161Glu)
c.319+2242C>A
c.1367C>A (p.Thr456Asn)
 gnomAD v4
11g.71435571T>ACA381701347DHCR7c.1232A>T (p.Asp411Val)
c.1058A>T (p.Asp353Val)
c.1283A>T (p.Asp428Val)
c.1268A>T (p.Asp423Val)
c.1240A>T (p.Thr414Ser)
n.1272A>T
c.647A>T (p.Asp216Val)
c.1136A>T (p.Asp379Val)
c.733A>T (p.Thr245Ser)
c.482A>T (p.Asp161Val)
c.319+2241A>T
c.1366A>T (p.Thr456Ser)
11g.71435571T>CCA381701349DHCR7c.1232A>G (p.Asp411Gly)
c.1058A>G (p.Asp353Gly)
c.1283A>G (p.Asp428Gly)
c.1268A>G (p.Asp423Gly)
c.1240A>G (p.Thr414Ala)
n.1272A>G
c.647A>G (p.Asp216Gly)
c.1136A>G (p.Asp379Gly)
c.733A>G (p.Thr245Ala)
c.482A>G (p.Asp161Gly)
c.319+2241A>G
c.1366A>G (p.Thr456Ala)
11g.71435571T>GCA381701351DHCR7c.1232A>C (p.Asp411Ala)
c.1058A>C (p.Asp353Ala)
c.1283A>C (p.Asp428Ala)
c.1268A>C (p.Asp423Ala)
c.1240A>C (p.Thr414Pro)
n.1272A>C
c.647A>C (p.Asp216Ala)
c.1136A>C (p.Asp379Ala)
c.733A>C (p.Thr245Pro)
c.482A>C (p.Asp161Ala)
c.319+2241A>C
c.1366A>C (p.Thr456Pro)
11g.71435572C>ACA381701353DHCR7c.1231G>T (p.Asp411Tyr)
c.1057G>T (p.Asp353Tyr)
c.1282G>T (p.Asp428Tyr)
c.1267G>T (p.Asp423Tyr)
c.1239G>T (p.Ala413=)
n.1271G>T
c.646G>T (p.Asp216Tyr)
c.1135G>T (p.Asp379Tyr)
c.732G>T (p.Ala244=)
c.481G>T (p.Asp161Tyr)
c.319+2240G>T
c.1365G>T (p.Ala455=)
11g.71435572C=CA1981486887DHCR7c.1231G= (p.Asp411=)
c.1057G= (p.Asp353=)
c.1282G= (p.Asp428=)
c.1267G= (p.Asp423=)
c.1239G= (p.Ala413=)
n.1271G=
c.646G= (p.Asp216=)
c.1135G= (p.Asp379=)
c.732G= (p.Ala244=)
c.481G= (p.Asp161=)
c.319+2240G=
c.1365G= (p.Ala455=)
11g.71435572C>GCA381701355DHCR7c.1231G>C (p.Asp411His)
c.1057G>C (p.Asp353His)
c.1282G>C (p.Asp428His)
c.1267G>C (p.Asp423His)
c.1239G>C (p.Ala413=)
n.1271G>C
c.646G>C (p.Asp216His)
c.1135G>C (p.Asp379His)
c.732G>C (p.Ala244=)
c.481G>C (p.Asp161His)
c.319+2240G>C
c.1365G>C (p.Ala455=)
11g.71435572C>TCA6162281DHCR7c.1231G>A (p.Asp411Asn)
c.1057G>A (p.Asp353Asn)
c.1282G>A (p.Asp428Asn)
c.1267G>A (p.Asp423Asn)
c.1239G>A (p.Ala413=)
n.1271G>A
c.646G>A (p.Asp216Asn)
c.1135G>A (p.Asp379Asn)
c.732G>A (p.Ala244=)
c.481G>A (p.Asp161Asn)
c.319+2240G>A
c.1365G>A (p.Ala455=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435573G>ACA381701357DHCR7c.1230C>T (p.Gly410=)
c.1056C>T (p.Gly352=)
c.1281C>T (p.Gly427=)
c.1266C>T (p.Gly422=)
c.1238C>T (p.Ala413Val)
n.1270C>T
c.645C>T (p.Gly215=)
c.1134C>T (p.Gly378=)
c.731C>T (p.Ala244Val)
c.480C>T (p.Gly160=)
c.319+2239C>T
c.1364C>T (p.Ala455Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435573G>CCA381701359DHCR7c.1230C>G (p.Gly410=)
c.1056C>G (p.Gly352=)
c.1281C>G (p.Gly427=)
c.1266C>G (p.Gly422=)
c.1238C>G (p.Ala413Gly)
n.1270C>G
c.645C>G (p.Gly215=)
c.1134C>G (p.Gly378=)
c.731C>G (p.Ala244Gly)
c.480C>G (p.Gly160=)
c.319+2239C>G
c.1364C>G (p.Ala455Gly)
 gnomAD v4
11g.71435573G=CA1981486888DHCR7c.1230C= (p.Gly410=)
c.1056C= (p.Gly352=)
c.1281C= (p.Gly427=)
c.1266C= (p.Gly422=)
c.1238C= (p.Ala413=)
n.1270C=
c.645C= (p.Gly215=)
c.1134C= (p.Gly378=)
c.731C= (p.Ala244=)
c.480C= (p.Gly160=)
c.319+2239C=
c.1364C= (p.Ala455=)
11g.71435573G>TCA381701361DHCR7c.1230C>A (p.Gly410=)
c.1056C>A (p.Gly352=)
c.1281C>A (p.Gly427=)
c.1266C>A (p.Gly422=)
c.1238C>A (p.Ala413Glu)
n.1270C>A
c.645C>A (p.Gly215=)
c.1134C>A (p.Gly378=)
c.731C>A (p.Ala244Glu)
c.480C>A (p.Gly160=)
c.319+2239C>A
c.1364C>A (p.Ala455Glu)
11g.71435574C>ACA381701367DHCR7c.1229G>T (p.Gly410Val)
c.1055G>T (p.Gly352Val)
c.1280G>T (p.Gly427Val)
c.1265G>T (p.Gly422Val)
c.1237G>T (p.Ala413Ser)
n.1269G>T
c.644G>T (p.Gly215Val)
c.1133G>T (p.Gly378Val)
c.730G>T (p.Ala244Ser)
c.479G>T (p.Gly160Val)
c.319+2238G>T
c.1363G>T (p.Ala455Ser)
11g.71435574C>GCA381701365DHCR7c.1229G>C (p.Gly410Ala)
c.1055G>C (p.Gly352Ala)
c.1280G>C (p.Gly427Ala)
c.1265G>C (p.Gly422Ala)
c.1237G>C (p.Ala413Pro)
n.1269G>C
c.644G>C (p.Gly215Ala)
c.1133G>C (p.Gly378Ala)
c.730G>C (p.Ala244Pro)
c.479G>C (p.Gly160Ala)
c.319+2238G>C
c.1363G>C (p.Ala455Pro)
11g.71435574C>TCA381701363DHCR7c.1229G>A (p.Gly410Asp)
c.1055G>A (p.Gly352Asp)
c.1280G>A (p.Gly427Asp)
c.1265G>A (p.Gly422Asp)
c.1237G>A (p.Ala413Thr)
n.1269G>A
c.644G>A (p.Gly215Asp)
c.1133G>A (p.Gly378Asp)
c.730G>A (p.Ala244Thr)
c.479G>A (p.Gly160Asp)
c.319+2238G>A
c.1363G>A (p.Ala455Thr)
11g.71435575C>ACA381701369DHCR7c.1228G>T (p.Gly410Cys)
c.1054G>T (p.Gly352Cys)
c.1279G>T (p.Gly427Cys)
c.1264G>T (p.Gly422Cys)
c.1236G>T (p.Ser412=)
n.1268G>T
c.643G>T (p.Gly215Cys)
c.1132G>T (p.Gly378Cys)
c.729G>T (p.Ser243=)
c.478G>T (p.Gly160Cys)
c.319+2237G>T
c.1362G>T (p.Ser454=)
11g.71435575C=CA1981486889DHCR7c.1228G= (p.Gly410=)
c.1054G= (p.Gly352=)
c.1279G= (p.Gly427=)
c.1264G= (p.Gly422=)
c.1236G= (p.Ser412=)
n.1268G=
c.643G= (p.Gly215=)
c.1132G= (p.Gly378=)
c.729G= (p.Ser243=)
c.478G= (p.Gly160=)
c.319+2237G=
c.1362G= (p.Ser454=)
11g.71435575C>GCA381701371DHCR7c.1228G>C (p.Gly410Arg)
c.1054G>C (p.Gly352Arg)
c.1279G>C (p.Gly427Arg)
c.1264G>C (p.Gly422Arg)
c.1236G>C (p.Ser412=)
n.1268G>C
c.643G>C (p.Gly215Arg)
c.1132G>C (p.Gly378Arg)
c.729G>C (p.Ser243=)
c.478G>C (p.Gly160Arg)
c.319+2237G>C
c.1362G>C (p.Ser454=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435575C>TCA221650DHCR7c.1228G>A (p.Gly410Ser)
c.1054G>A (p.Gly352Ser)
c.1279G>A (p.Gly427Ser)
c.1264G>A (p.Gly422Ser)
c.1236G>A (p.Ser412=)
n.1268G>A
c.643G>A (p.Gly215Ser)
c.1132G>A (p.Gly378Ser)
c.729G>A (p.Ser243=)
c.478G>A (p.Gly160Ser)
c.319+2237G>A
c.1362G>A (p.Ser454=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435576G>ACA224324140DHCR7c.1227C>T (p.Val409=)
c.1053C>T (p.Val351=)
c.1278C>T (p.Val426=)
c.1263C>T (p.Val421=)
c.1235C>T (p.Ser412Leu)
n.1267C>T
c.642C>T (p.Val214=)
c.1131C>T (p.Val377=)
c.728C>T (p.Ser243Leu)
c.477C>T (p.Val159=)
c.319+2236C>T
c.1361C>T (p.Ser454Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435576G>CCA381701375DHCR7c.1227C>G (p.Val409=)
c.1053C>G (p.Val351=)
c.1278C>G (p.Val426=)
c.1263C>G (p.Val421=)
c.1235C>G (p.Ser412Trp)
n.1267C>G
c.642C>G (p.Val214=)
c.1131C>G (p.Val377=)
c.728C>G (p.Ser243Trp)
c.477C>G (p.Val159=)
c.319+2236C>G
c.1361C>G (p.Ser454Trp)
 gnomAD v4
11g.71435576G=CA1981486890DHCR7c.1227C= (p.Val409=)
c.1053C= (p.Val351=)
c.1278C= (p.Val426=)
c.1263C= (p.Val421=)
c.1235C= (p.Ser412=)
n.1267C=
c.642C= (p.Val214=)
c.1131C= (p.Val377=)
c.728C= (p.Ser243=)
c.477C= (p.Val159=)
c.319+2236C=
c.1361C= (p.Ser454=)
11g.71435576G>TCA381701377DHCR7c.1227C>A (p.Val409=)
c.1053C>A (p.Val351=)
c.1278C>A (p.Val426=)
c.1263C>A (p.Val421=)
c.1235C>A (p.Ser412Ter)
n.1267C>A
c.642C>A (p.Val214=)
c.1131C>A (p.Val377=)
c.728C>A (p.Ser243Ter)
c.477C>A (p.Val159=)
c.319+2236C>A
c.1361C>A (p.Ser454Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.71435577A>CCA381701379DHCR7c.1226T>G (p.Val409Gly)
c.1052T>G (p.Val351Gly)
c.1277T>G (p.Val426Gly)
c.1262T>G (p.Val421Gly)
c.1234T>G (p.Ser412Ala)
n.1266T>G
c.641T>G (p.Val214Gly)
c.1130T>G (p.Val377Gly)
c.727T>G (p.Ser243Ala)
c.476T>G (p.Val159Gly)
c.319+2235T>G
c.1360T>G (p.Ser454Ala)
11g.71435577A>GCA381701381DHCR7c.1226T>C (p.Val409Ala)
c.1052T>C (p.Val351Ala)
c.1277T>C (p.Val426Ala)
c.1262T>C (p.Val421Ala)
c.1234T>C (p.Ser412Pro)
n.1266T>C
c.641T>C (p.Val214Ala)
c.1130T>C (p.Val377Ala)
c.727T>C (p.Ser243Pro)
c.476T>C (p.Val159Ala)
c.319+2235T>C
c.1360T>C (p.Ser454Pro)
 gnomAD v4
11g.71435577A>TCA381701383DHCR7c.1226T>A (p.Val409Asp)
c.1052T>A (p.Val351Asp)
c.1277T>A (p.Val426Asp)
c.1262T>A (p.Val421Asp)
c.1234T>A (p.Ser412Thr)
n.1266T>A
c.641T>A (p.Val214Asp)
c.1130T>A (p.Val377Asp)
c.727T>A (p.Ser243Thr)
c.476T>A (p.Val159Asp)
c.319+2235T>A
c.1360T>A (p.Ser454Thr)
11g.71435578C>ACA381701385DHCR7c.1225G>T (p.Val409Phe)
c.1051G>T (p.Val351Phe)
c.1276G>T (p.Val426Phe)
c.1261G>T (p.Val421Phe)
c.1233G>T (p.Thr411=)
n.1265G>T
c.640G>T (p.Val214Phe)
c.1129G>T (p.Val377Phe)
c.726G>T (p.Thr242=)
c.475G>T (p.Val159Phe)
c.319+2234G>T
c.1359G>T (p.Thr453=)
11g.71435578C=CA1981486891DHCR7c.1225G= (p.Val409=)
c.1051G= (p.Val351=)
c.1276G= (p.Val426=)
c.1261G= (p.Val421=)
c.1233G= (p.Thr411=)
n.1265G=
c.640G= (p.Val214=)
c.1129G= (p.Val377=)
c.726G= (p.Thr242=)
c.475G= (p.Val159=)
c.319+2234G=
c.1359G= (p.Thr453=)
11g.71435578C>GCA381701387DHCR7c.1225G>C (p.Val409Leu)
c.1051G>C (p.Val351Leu)
c.1276G>C (p.Val426Leu)
c.1261G>C (p.Val421Leu)
c.1233G>C (p.Thr411=)
n.1265G>C
c.640G>C (p.Val214Leu)
c.1129G>C (p.Val377Leu)
c.726G>C (p.Thr242=)
c.475G>C (p.Val159Leu)
c.319+2234G>C
c.1359G>C (p.Thr453=)
11g.71435578C>TCA6162282DHCR7c.1225G>A (p.Val409Ile)
c.1051G>A (p.Val351Ile)
c.1276G>A (p.Val426Ile)
c.1261G>A (p.Val421Ile)
c.1233G>A (p.Thr411=)
n.1265G>A
c.640G>A (p.Val214Ile)
c.1129G>A (p.Val377Ile)
c.726G>A (p.Thr242=)
c.475G>A (p.Val159Ile)
c.319+2234G>A
c.1359G>A (p.Thr453=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435579G>ACA6162283DHCR7c.1224C>T (p.Tyr408=)
c.1050C>T (p.Tyr350=)
c.1275C>T (p.Tyr425=)
c.1260C>T (p.Tyr420=)
c.1232C>T (p.Thr411Met)
n.1264C>T
c.639C>T (p.Tyr213=)
c.1128C>T (p.Tyr376=)
c.725C>T (p.Thr242Met)
c.474C>T (p.Tyr158=)
c.319+2233C>T
c.1358C>T (p.Thr453Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435579G>CCA381701393DHCR7c.1224C>G (p.Tyr408Ter)
c.1050C>G (p.Tyr350Ter)
c.1275C>G (p.Tyr425Ter)
c.1260C>G (p.Tyr420Ter)
c.1232C>G (p.Thr411Arg)
n.1264C>G
c.639C>G (p.Tyr213Ter)
c.1128C>G (p.Tyr376Ter)
c.725C>G (p.Thr242Arg)
c.474C>G (p.Tyr158Ter)
c.319+2233C>G
c.1358C>G (p.Thr453Arg)
 ClinVar gnomAD v4
11g.71435579G=CA1981486892DHCR7c.1224C= (p.Tyr408=)
c.1050C= (p.Tyr350=)
c.1275C= (p.Tyr425=)
c.1260C= (p.Tyr420=)
c.1232C= (p.Thr411=)
n.1264C=
c.639C= (p.Tyr213=)
c.1128C= (p.Tyr376=)
c.725C= (p.Thr242=)
c.474C= (p.Tyr158=)
c.319+2233C=
c.1358C= (p.Thr453=)
11g.71435579G>TCA381701391DHCR7c.1224C>A (p.Tyr408Ter)
c.1050C>A (p.Tyr350Ter)
c.1275C>A (p.Tyr425Ter)
c.1260C>A (p.Tyr420Ter)
c.1232C>A (p.Thr411Lys)
n.1264C>A
c.639C>A (p.Tyr213Ter)
c.1128C>A (p.Tyr376Ter)
c.725C>A (p.Thr242Lys)
c.474C>A (p.Tyr158Ter)
c.319+2233C>A
c.1358C>A (p.Thr453Lys)
11g.71435580T>ACA381701397DHCR7c.1223A>T (p.Tyr408Phe)
c.1049A>T (p.Tyr350Phe)
c.1274A>T (p.Tyr425Phe)
c.1259A>T (p.Tyr420Phe)
c.1231A>T (p.Thr411Ser)
n.1263A>T
c.638A>T (p.Tyr213Phe)
c.1127A>T (p.Tyr376Phe)
c.724A>T (p.Thr242Ser)
c.473A>T (p.Tyr158Phe)
c.319+2232A>T
c.1357A>T (p.Thr453Ser)
 ClinVar dbSNP gnomAD v4
11g.71435580T>CCA381701398DHCR7c.1223A>G (p.Tyr408Cys)
c.1049A>G (p.Tyr350Cys)
c.1274A>G (p.Tyr425Cys)
c.1259A>G (p.Tyr420Cys)
c.1231A>G (p.Thr411Ala)
n.1263A>G
c.638A>G (p.Tyr213Cys)
c.1127A>G (p.Tyr376Cys)
c.724A>G (p.Thr242Ala)
c.473A>G (p.Tyr158Cys)
c.319+2232A>G
c.1357A>G (p.Thr453Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435580T>GCA381701399DHCR7c.1223A>C (p.Tyr408Ser)
c.1049A>C (p.Tyr350Ser)
c.1274A>C (p.Tyr425Ser)
c.1259A>C (p.Tyr420Ser)
c.1231A>C (p.Thr411Pro)
n.1263A>C
c.638A>C (p.Tyr213Ser)
c.1127A>C (p.Tyr376Ser)
c.724A>C (p.Thr242Pro)
c.473A>C (p.Tyr158Ser)
c.319+2232A>C
c.1357A>C (p.Thr453Pro)
11g.71435580T=CA1981486893DHCR7c.1223A= (p.Tyr408=)
c.1049A= (p.Tyr350=)
c.1274A= (p.Tyr425=)
c.1259A= (p.Tyr420=)
c.1231A= (p.Thr411=)
n.1263A=
c.638A= (p.Tyr213=)
c.1127A= (p.Tyr376=)
c.724A= (p.Thr242=)
c.473A= (p.Tyr158=)
c.319+2232A=
c.1357A= (p.Thr453=)
11g.71435581A=CA1981486894DHCR7c.1222T= (p.Tyr408=)
c.1048T= (p.Tyr350=)
c.1273T= (p.Tyr425=)
c.1258T= (p.Tyr420=)
c.1230T= (p.Thr410=)
n.1262T=
c.637T= (p.Tyr213=)
c.1126T= (p.Tyr376=)
c.723T= (p.Thr241=)
c.472T= (p.Tyr158=)
c.319+2231T=
c.1356T= (p.Thr452=)
11g.71435581A>CCA381701401DHCR7c.1222T>G (p.Tyr408Asp)
c.1048T>G (p.Tyr350Asp)
c.1273T>G (p.Tyr425Asp)
c.1258T>G (p.Tyr420Asp)
c.1230T>G (p.Thr410=)
n.1262T>G
c.637T>G (p.Tyr213Asp)
c.1126T>G (p.Tyr376Asp)
c.723T>G (p.Thr241=)
c.472T>G (p.Tyr158Asp)
c.319+2231T>G
c.1356T>G (p.Thr452=)
11g.71435581A>GCA224324187DHCR7c.1222T>C (p.Tyr408His)
c.1048T>C (p.Tyr350His)
c.1273T>C (p.Tyr425His)
c.1258T>C (p.Tyr420His)
c.1230T>C (p.Thr410=)
n.1262T>C
c.637T>C (p.Tyr213His)
c.1126T>C (p.Tyr376His)
c.723T>C (p.Thr241=)
c.472T>C (p.Tyr158His)
c.319+2231T>C
c.1356T>C (p.Thr452=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435581A>TCA381701404DHCR7c.1222T>A (p.Tyr408Asn)
c.1048T>A (p.Tyr350Asn)
c.1273T>A (p.Tyr425Asn)
c.1258T>A (p.Tyr420Asn)
c.1230T>A (p.Thr410=)
n.1262T>A
c.637T>A (p.Tyr213Asn)
c.1126T>A (p.Tyr376Asn)
c.723T>A (p.Thr241=)
c.472T>A (p.Tyr158Asn)
c.319+2231T>A
c.1356T>A (p.Thr452=)
11g.71435582G>ACA381701406DHCR7c.1221C>T (p.Asn407=)
c.1047C>T (p.Asn349=)
c.1272C>T (p.Asn424=)
c.1257C>T (p.Asn419=)
c.1229C>T (p.Thr410Ile)
n.1261C>T
c.636C>T (p.Asn212=)
c.1125C>T (p.Asn375=)
c.722C>T (p.Thr241Ile)
c.471C>T (p.Asn157=)
c.319+2230C>T
c.1355C>T (p.Thr452Ile)
 gnomAD v4
11g.71435582G>CCA381701408DHCR7c.1221C>G (p.Asn407Lys)
c.1047C>G (p.Asn349Lys)
c.1272C>G (p.Asn424Lys)
c.1257C>G (p.Asn419Lys)
c.1229C>G (p.Thr410Ser)
n.1261C>G
c.636C>G (p.Asn212Lys)
c.1125C>G (p.Asn375Lys)
c.722C>G (p.Thr241Ser)
c.471C>G (p.Asn157Lys)
c.319+2230C>G
c.1355C>G (p.Thr452Ser)
11g.71435582G=CA1981486895DHCR7c.1221C= (p.Asn407=)
c.1047C= (p.Asn349=)
c.1272C= (p.Asn424=)
c.1257C= (p.Asn419=)
c.1229C= (p.Thr410=)
n.1261C=
c.636C= (p.Asn212=)
c.1125C= (p.Asn375=)
c.722C= (p.Thr241=)
c.471C= (p.Asn157=)
c.319+2230C=
c.1355C= (p.Thr452=)
11g.71435582G>TCA381701409DHCR7c.1221C>A (p.Asn407Lys)
c.1047C>A (p.Asn349Lys)
c.1272C>A (p.Asn424Lys)
c.1257C>A (p.Asn419Lys)
c.1229C>A (p.Thr410Asn)
n.1261C>A
c.636C>A (p.Asn212Lys)
c.1125C>A (p.Asn375Lys)
c.722C>A (p.Thr241Asn)
c.471C>A (p.Asn157Lys)
c.319+2230C>A
c.1355C>A (p.Thr452Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435583T>ACA381701412DHCR7c.1220A>T (p.Asn407Ile)
c.1046A>T (p.Asn349Ile)
c.1271A>T (p.Asn424Ile)
c.1256A>T (p.Asn419Ile)
c.1228A>T (p.Thr410Ser)
n.1260A>T
c.635A>T (p.Asn212Ile)
c.1124A>T (p.Asn375Ile)
c.721A>T (p.Thr241Ser)
c.470A>T (p.Asn157Ile)
c.319+2229A>T
c.1354A>T (p.Thr452Ser)
11g.71435583T>CCA6162284DHCR7c.1220A>G (p.Asn407Ser)
c.1046A>G (p.Asn349Ser)
c.1271A>G (p.Asn424Ser)
c.1256A>G (p.Asn419Ser)
c.1228A>G (p.Thr410Ala)
n.1260A>G
c.635A>G (p.Asn212Ser)
c.1124A>G (p.Asn375Ser)
c.721A>G (p.Thr241Ala)
c.470A>G (p.Asn157Ser)
c.319+2229A>G
c.1354A>G (p.Thr452Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435583T>GCA381701415DHCR7c.1220A>C (p.Asn407Thr)
c.1046A>C (p.Asn349Thr)
c.1271A>C (p.Asn424Thr)
c.1256A>C (p.Asn419Thr)
c.1228A>C (p.Thr410Pro)
n.1260A>C
c.635A>C (p.Asn212Thr)
c.1124A>C (p.Asn375Thr)
c.721A>C (p.Thr241Pro)
c.470A>C (p.Asn157Thr)
c.319+2229A>C
c.1354A>C (p.Thr452Pro)
 gnomAD v4
11g.71435583T=CA1981486896DHCR7c.1220A= (p.Asn407=)
c.1046A= (p.Asn349=)
c.1271A= (p.Asn424=)
c.1256A= (p.Asn419=)
c.1228A= (p.Thr410=)
n.1260A=
c.635A= (p.Asn212=)
c.1124A= (p.Asn375=)
c.721A= (p.Thr241=)
c.470A= (p.Asn157=)
c.319+2229A=
c.1354A= (p.Thr452=)
11g.71435584T>ACA6162285DHCR7c.1219A>T (p.Asn407Tyr)
c.1045A>T (p.Asn349Tyr)
c.1270A>T (p.Asn424Tyr)
c.1255A>T (p.Asn419Tyr)
c.1227A>T (p.Ser409=)
n.1259A>T
c.634A>T (p.Asn212Tyr)
c.1123A>T (p.Asn375Tyr)
c.720A>T (p.Ser240=)
c.469A>T (p.Asn157Tyr)
c.319+2228A>T
c.1353A>T (p.Ser451=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435584T>CCA381701421DHCR7c.1219A>G (p.Asn407Asp)
c.1045A>G (p.Asn349Asp)
c.1270A>G (p.Asn424Asp)
c.1255A>G (p.Asn419Asp)
c.1227A>G (p.Ser409=)
n.1259A>G
c.634A>G (p.Asn212Asp)
c.1123A>G (p.Asn375Asp)
c.720A>G (p.Ser240=)
c.469A>G (p.Asn157Asp)
c.319+2228A>G
c.1353A>G (p.Ser451=)
11g.71435584T>GCA381701419DHCR7c.1219A>C (p.Asn407His)
c.1045A>C (p.Asn349His)
c.1270A>C (p.Asn424His)
c.1255A>C (p.Asn419His)
c.1227A>C (p.Ser409=)
n.1259A>C
c.634A>C (p.Asn212His)
c.1123A>C (p.Asn375His)
c.720A>C (p.Ser240=)
c.469A>C (p.Asn157His)
c.319+2228A>C
c.1353A>C (p.Ser451=)
11g.71435584T=CA1981486897DHCR7c.1219A= (p.Asn407=)
c.1045A= (p.Asn349=)
c.1270A= (p.Asn424=)
c.1255A= (p.Asn419=)
c.1227A= (p.Ser409=)
n.1259A=
c.634A= (p.Asn212=)
c.1123A= (p.Asn375=)
c.720A= (p.Ser240=)
c.469A= (p.Asn157=)
c.319+2228A=
c.1353A= (p.Ser451=)
11g.71435585G>ACA381701424DHCR7c.1218C>T (p.Phe406=)
c.1044C>T (p.Phe348=)
c.1269C>T (p.Phe423=)
c.1254C>T (p.Phe418=)
c.1226C>T (p.Ser409Leu)
n.1258C>T
c.633C>T (p.Phe211=)
c.1122C>T (p.Phe374=)
c.719C>T (p.Ser240Leu)
c.468C>T (p.Phe156=)
c.319+2227C>T
c.1352C>T (p.Ser451Leu)
11g.71435585G>CCA381701426DHCR7c.1218C>G (p.Phe406Leu)
c.1044C>G (p.Phe348Leu)
c.1269C>G (p.Phe423Leu)
c.1254C>G (p.Phe418Leu)
c.1226C>G (p.Ser409Ter)
n.1258C>G
c.633C>G (p.Phe211Leu)
c.1122C>G (p.Phe374Leu)
c.719C>G (p.Ser240Ter)
c.468C>G (p.Phe156Leu)
c.319+2227C>G
c.1352C>G (p.Ser451Ter)
 ClinVar dbSNP gnomAD v4
11g.71435585G=CA1981486898DHCR7c.1218C= (p.Phe406=)
c.1044C= (p.Phe348=)
c.1269C= (p.Phe423=)
c.1254C= (p.Phe418=)
c.1226C= (p.Ser409=)
n.1258C=
c.633C= (p.Phe211=)
c.1122C= (p.Phe374=)
c.719C= (p.Ser240=)
c.468C= (p.Phe156=)
c.319+2227C=
c.1352C= (p.Ser451=)
11g.71435585G>TCA381701427DHCR7c.1218C>A (p.Phe406Leu)
c.1044C>A (p.Phe348Leu)
c.1269C>A (p.Phe423Leu)
c.1254C>A (p.Phe418Leu)
c.1226C>A (p.Ser409Ter)
n.1258C>A
c.633C>A (p.Phe211Leu)
c.1122C>A (p.Phe374Leu)
c.719C>A (p.Ser240Ter)
c.468C>A (p.Phe156Leu)
c.319+2227C>A
c.1352C>A (p.Ser451Ter)
11g.71435586A>CCA381701429DHCR7c.1217T>G (p.Phe406Cys)
c.1043T>G (p.Phe348Cys)
c.1268T>G (p.Phe423Cys)
c.1253T>G (p.Phe418Cys)
c.1225T>G (p.Ser409Ala)
n.1257T>G
c.632T>G (p.Phe211Cys)
c.1121T>G (p.Phe374Cys)
c.718T>G (p.Ser240Ala)
c.467T>G (p.Phe156Cys)
c.319+2226T>G
c.1351T>G (p.Ser451Ala)
11g.71435586A>GCA381701431DHCR7c.1217T>C (p.Phe406Ser)
c.1043T>C (p.Phe348Ser)
c.1268T>C (p.Phe423Ser)
c.1253T>C (p.Phe418Ser)
c.1225T>C (p.Ser409Pro)
n.1257T>C
c.632T>C (p.Phe211Ser)
c.1121T>C (p.Phe374Ser)
c.718T>C (p.Ser240Pro)
c.467T>C (p.Phe156Ser)
c.319+2226T>C
c.1351T>C (p.Ser451Pro)
11g.71435586A>TCA381701433DHCR7c.1217T>A (p.Phe406Tyr)
c.1043T>A (p.Phe348Tyr)
c.1268T>A (p.Phe423Tyr)
c.1253T>A (p.Phe418Tyr)
c.1225T>A (p.Ser409Thr)
n.1257T>A
c.632T>A (p.Phe211Tyr)
c.1121T>A (p.Phe374Tyr)
c.718T>A (p.Ser240Thr)
c.467T>A (p.Phe156Tyr)
c.319+2226T>A
c.1351T>A (p.Ser451Thr)
11g.71435587A>CCA381701437DHCR7c.1216T>G (p.Phe406Val)
c.1042T>G (p.Phe348Val)
c.1267T>G (p.Phe423Val)
c.1252T>G (p.Phe418Val)
c.1224T>G (p.Thr408=)
n.1256T>G
c.631T>G (p.Phe211Val)
c.1120T>G (p.Phe374Val)
c.717T>G (p.Thr239=)
c.466T>G (p.Phe156Val)
c.319+2225T>G
c.1350T>G (p.Thr450=)
11g.71435587A>GCA381701436DHCR7c.1216T>C (p.Phe406Leu)
c.1042T>C (p.Phe348Leu)
c.1267T>C (p.Phe423Leu)
c.1252T>C (p.Phe418Leu)
c.1224T>C (p.Thr408=)
n.1256T>C
c.631T>C (p.Phe211Leu)
c.1120T>C (p.Phe374Leu)
c.717T>C (p.Thr239=)
c.466T>C (p.Phe156Leu)
c.319+2225T>C
c.1350T>C (p.Thr450=)
 gnomAD v4
11g.71435587A>TCA381701435DHCR7c.1216T>A (p.Phe406Ile)
c.1042T>A (p.Phe348Ile)
c.1267T>A (p.Phe423Ile)
c.1252T>A (p.Phe418Ile)
c.1224T>A (p.Thr408=)
n.1256T>A
c.631T>A (p.Phe211Ile)
c.1120T>A (p.Phe374Ile)
c.717T>A (p.Thr239=)
c.466T>A (p.Phe156Ile)
c.319+2225T>A
c.1350T>A (p.Thr450=)
11g.71435588G>ACA381701438DHCR7c.1215C>T (p.His405=)
c.1041C>T (p.His347=)
c.1266C>T (p.His422=)
c.1251C>T (p.His417=)
c.1223C>T (p.Thr408Ile)
n.1255C>T
c.630C>T (p.His210=)
c.1119C>T (p.His373=)
c.716C>T (p.Thr239Ile)
c.465C>T (p.His155=)
c.319+2224C>T
c.1349C>T (p.Thr450Ile)
11g.71435588G>CCA6162286DHCR7c.1215C>G (p.His405Gln)
c.1041C>G (p.His347Gln)
c.1266C>G (p.His422Gln)
c.1251C>G (p.His417Gln)
c.1223C>G (p.Thr408Ser)
n.1255C>G
c.630C>G (p.His210Gln)
c.1119C>G (p.His373Gln)
c.716C>G (p.Thr239Ser)
c.465C>G (p.His155Gln)
c.319+2224C>G
c.1349C>G (p.Thr450Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435588G=CA1981486899DHCR7c.1215C= (p.His405=)
c.1041C= (p.His347=)
c.1266C= (p.His422=)
c.1251C= (p.His417=)
c.1223C= (p.Thr408=)
n.1255C=
c.630C= (p.His210=)
c.1119C= (p.His373=)
c.716C= (p.Thr239=)
c.465C= (p.His155=)
c.319+2224C=
c.1349C= (p.Thr450=)
11g.71435588G>TCA381701441DHCR7c.1215C>A (p.His405Gln)
c.1041C>A (p.His347Gln)
c.1266C>A (p.His422Gln)
c.1251C>A (p.His417Gln)
c.1223C>A (p.Thr408Asn)
n.1255C>A
c.630C>A (p.His210Gln)
c.1119C>A (p.His373Gln)
c.716C>A (p.Thr239Asn)
c.465C>A (p.His155Gln)
c.319+2224C>A
c.1349C>A (p.Thr450Asn)
11g.71435588_71435589delinsGTCA1981486900DHCR7c.1214_1215delinsAC (p.His405=)
c.1040_1041delinsAC (p.His347=)
c.1265_1266delinsAC (p.His422=)
c.1250_1251delinsAC (p.His417=)
c.1222_1223delinsAC (p.Thr408=)
n.1254_1255delinsAC
c.629_630delinsAC (p.His210=)
c.1118_1119delinsAC (p.His373=)
c.715_716delinsAC (p.Thr239=)
c.464_465delinsAC (p.His155=)
c.319+2223_319+2224delinsAC
c.1348_1349delinsAC (p.Thr450=)
11g.71435589delCA679810785DHCR7c.1214del (p.His405ProfsTer8)
c.1040del (p.His347ProfsTer8)
c.1265del (p.His422ProfsTer8)
c.1250del (p.His417ProfsTer8)
c.1222del (p.Thr408LeufsTer?)
n.1254del
c.629del (p.His210ProfsTer8)
c.1118del (p.His373ProfsTer8)
c.715del (p.Thr239LeufsTer?)
c.464del (p.His155ProfsTer8)
c.319+2223del
c.1348del (p.Thr450LeufsTer?)
 ClinVar dbSNP
11g.71435589T>ACA381701444DHCR7c.1214A>T (p.His405Leu)
c.1040A>T (p.His347Leu)
c.1265A>T (p.His422Leu)
c.1250A>T (p.His417Leu)
c.1222A>T (p.Thr408Ser)
n.1254A>T
c.629A>T (p.His210Leu)
c.1118A>T (p.His373Leu)
c.715A>T (p.Thr239Ser)
c.464A>T (p.His155Leu)
c.319+2223A>T
c.1348A>T (p.Thr450Ser)
11g.71435589T>CCA381701446DHCR7c.1214A>G (p.His405Arg)
c.1040A>G (p.His347Arg)
c.1265A>G (p.His422Arg)
c.1250A>G (p.His417Arg)
c.1222A>G (p.Thr408Ala)
n.1254A>G
c.629A>G (p.His210Arg)
c.1118A>G (p.His373Arg)
c.715A>G (p.Thr239Ala)
c.464A>G (p.His155Arg)
c.319+2223A>G
c.1348A>G (p.Thr450Ala)
 dbSNP
11g.71435589T>GCA381701448DHCR7c.1214A>C (p.His405Pro)
c.1040A>C (p.His347Pro)
c.1265A>C (p.His422Pro)
c.1250A>C (p.His417Pro)
c.1222A>C (p.Thr408Pro)
n.1254A>C
c.629A>C (p.His210Pro)
c.1118A>C (p.His373Pro)
c.715A>C (p.Thr239Pro)
c.464A>C (p.His155Pro)
c.319+2223A>C
c.1348A>C (p.Thr450Pro)
11g.71435589T=CA1981486901DHCR7c.1214A= (p.His405=)
c.1040A= (p.His347=)
c.1265A= (p.His422=)
c.1250A= (p.His417=)
c.1222A= (p.Thr408=)
n.1254A=
c.629A= (p.His210=)
c.1118A= (p.His373=)
c.715A= (p.Thr239=)
c.464A= (p.His155=)
c.319+2223A=
c.1348A= (p.Thr450=)
11g.71435590G>ACA381701450DHCR7c.1213C>T (p.His405Tyr)
c.1039C>T (p.His347Tyr)
c.1264C>T (p.His422Tyr)
c.1249C>T (p.His417Tyr)
c.1221C>T (p.Ala407=)
n.1253C>T
c.628C>T (p.His210Tyr)
c.1117C>T (p.His373Tyr)
c.714C>T (p.Ala238=)
c.463C>T (p.His155Tyr)
c.319+2222C>T
c.1347C>T (p.Ala449=)
11g.71435590G>CCA381701454DHCR7c.1213C>G (p.His405Asp)
c.1039C>G (p.His347Asp)
c.1264C>G (p.His422Asp)
c.1249C>G (p.His417Asp)
c.1221C>G (p.Ala407=)
n.1253C>G
c.628C>G (p.His210Asp)
c.1117C>G (p.His373Asp)
c.714C>G (p.Ala238=)
c.463C>G (p.His155Asp)
c.319+2222C>G
c.1347C>G (p.Ala449=)
11g.71435590G>TCA381701452DHCR7c.1213C>A (p.His405Asn)
c.1039C>A (p.His347Asn)
c.1264C>A (p.His422Asn)
c.1249C>A (p.His417Asn)
c.1221C>A (p.Ala407=)
n.1253C>A
c.628C>A (p.His210Asn)
c.1117C>A (p.His373Asn)
c.714C>A (p.Ala238=)
c.463C>A (p.His155Asn)
c.319+2222C>A
c.1347C>A (p.Ala449=)
 gnomAD v4
11g.71435591G>ACA381701456DHCR7c.1212C>T (p.Arg404=)
c.1038C>T (p.Arg346=)
c.1263C>T (p.Arg421=)
c.1248C>T (p.Arg416=)
c.1220C>T (p.Ala407Val)
n.1252C>T
c.627C>T (p.Arg209=)
c.1116C>T (p.Arg372=)
c.713C>T (p.Ala238Val)
c.462C>T (p.Arg154=)
c.319+2221C>T
c.1346C>T (p.Ala449Val)
 ClinVar
11g.71435591G>CCA381701458DHCR7c.1212C>G (p.Arg404=)
c.1038C>G (p.Arg346=)
c.1263C>G (p.Arg421=)
c.1248C>G (p.Arg416=)
c.1220C>G (p.Ala407Gly)
n.1252C>G
c.627C>G (p.Arg209=)
c.1116C>G (p.Arg372=)
c.713C>G (p.Ala238Gly)
c.462C>G (p.Arg154=)
c.319+2221C>G
c.1346C>G (p.Ala449Gly)
 dbSNP gnomAD v2 gnomAD v4
11g.71435591G=CA1981486902DHCR7c.1212C= (p.Arg404=)
c.1038C= (p.Arg346=)
c.1263C= (p.Arg421=)
c.1248C= (p.Arg416=)
c.1220C= (p.Ala407=)
n.1252C=
c.627C= (p.Arg209=)
c.1116C= (p.Arg372=)
c.713C= (p.Ala238=)
c.462C= (p.Arg154=)
c.319+2221C=
c.1346C= (p.Ala449=)
11g.71435591G>TCA381701460DHCR7c.1212C>A (p.Arg404=)
c.1038C>A (p.Arg346=)
c.1263C>A (p.Arg421=)
c.1248C>A (p.Arg416=)
c.1220C>A (p.Ala407Asp)
n.1252C>A
c.627C>A (p.Arg209=)
c.1116C>A (p.Arg372=)
c.713C>A (p.Ala238Asp)
c.462C>A (p.Arg154=)
c.319+2221C>A
c.1346C>A (p.Ala449Asp)
 gnomAD v4
11g.71435592C>ACA381701462DHCR7c.1211G>T (p.Arg404Leu)
c.1037G>T (p.Arg346Leu)
c.1262G>T (p.Arg421Leu)
c.1247G>T (p.Arg416Leu)
c.1219G>T (p.Ala407Ser)
n.1251G>T
c.626G>T (p.Arg209Leu)
c.1115G>T (p.Arg372Leu)
c.712G>T (p.Ala238Ser)
c.461G>T (p.Arg154Leu)
c.319+2220G>T
c.1345G>T (p.Ala449Ser)
11g.71435592C=CA1981486903DHCR7c.1211G= (p.Arg404=)
c.1037G= (p.Arg346=)
c.1262G= (p.Arg421=)
c.1247G= (p.Arg416=)
c.1219G= (p.Ala407=)
n.1251G=
c.626G= (p.Arg209=)
c.1115G= (p.Arg372=)
c.712G= (p.Ala238=)
c.461G= (p.Arg154=)
c.319+2220G=
c.1345G= (p.Ala449=)
11g.71435592C>GCA381701464DHCR7c.1211G>C (p.Arg404Pro)
c.1037G>C (p.Arg346Pro)
c.1262G>C (p.Arg421Pro)
c.1247G>C (p.Arg416Pro)
c.1219G>C (p.Ala407Pro)
n.1251G>C
c.626G>C (p.Arg209Pro)
c.1115G>C (p.Arg372Pro)
c.712G>C (p.Ala238Pro)
c.461G>C (p.Arg154Pro)
c.319+2220G>C
c.1345G>C (p.Ala449Pro)
11g.71435592C>TCA381701465DHCR7c.1211G>A (p.Arg404His)
c.1037G>A (p.Arg346His)
c.1262G>A (p.Arg421His)
c.1247G>A (p.Arg416His)
c.1219G>A (p.Ala407Thr)
n.1251G>A
c.626G>A (p.Arg209His)
c.1115G>A (p.Arg372His)
c.712G>A (p.Ala238Thr)
c.461G>A (p.Arg154His)
c.319+2220G>A
c.1345G>A (p.Ala449Thr)
 ClinVar dbSNP gnomAD v4
11g.71435593G>ACA340615DHCR7c.1210C>T (p.Arg404Cys)
c.1036C>T (p.Arg346Cys)
c.1261C>T (p.Arg421Cys)
c.1246C>T (p.Arg416Cys)
c.1218C>T (p.Pro406=)
n.1250C>T
c.625C>T (p.Arg209Cys)
c.1114C>T (p.Arg372Cys)
c.711C>T (p.Pro237=)
c.460C>T (p.Arg154Cys)
c.319+2219C>T
c.1344C>T (p.Pro448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435593G>CCA381701468DHCR7c.1210C>G (p.Arg404Gly)
c.1036C>G (p.Arg346Gly)
c.1261C>G (p.Arg421Gly)
c.1246C>G (p.Arg416Gly)
c.1218C>G (p.Pro406=)
n.1250C>G
c.625C>G (p.Arg209Gly)
c.1114C>G (p.Arg372Gly)
c.711C>G (p.Pro237=)
c.460C>G (p.Arg154Gly)
c.319+2219C>G
c.1344C>G (p.Pro448=)
 ClinVar dbSNP gnomAD v4
11g.71435593G=CA1981486904DHCR7c.1210C= (p.Arg404=)
c.1036C= (p.Arg346=)
c.1261C= (p.Arg421=)
c.1246C= (p.Arg416=)
c.1218C= (p.Pro406=)
n.1250C=
c.625C= (p.Arg209=)
c.1114C= (p.Arg372=)
c.711C= (p.Pro237=)
c.460C= (p.Arg154=)
c.319+2219C=
c.1344C= (p.Pro448=)
11g.71435593G>TCA381701470DHCR7c.1210C>A (p.Arg404Ser)
c.1036C>A (p.Arg346Ser)
c.1261C>A (p.Arg421Ser)
c.1246C>A (p.Arg416Ser)
c.1218C>A (p.Pro406=)
n.1250C>A
c.625C>A (p.Arg209Ser)
c.1114C>A (p.Arg372Ser)
c.711C>A (p.Pro237=)
c.460C>A (p.Arg154Ser)
c.319+2219C>A
c.1344C>A (p.Pro448=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435595delCA2697548787DHCR7c.1210del (p.Arg404AlafsTer9)
c.1036del (p.Arg346AlafsTer9)
c.1261del (p.Arg421AlafsTer9)
c.1246del (p.Arg416AlafsTer9)
c.1218del (p.Ala407ProfsTer?)
n.1250del
c.625del (p.Arg209AlafsTer9)
c.1114del (p.Arg372AlafsTer9)
c.711del (p.Ala238ProfsTer?)
c.460del (p.Arg154AlafsTer9)
c.319+2219del
c.1344del (p.Ala449ProfsTer?)
 ClinVar
11g.71435594G>ACA381701472DHCR7c.1209C>T (p.Ala403=)
c.1035C>T (p.Ala345=)
c.1260C>T (p.Ala420=)
c.1245C>T (p.Ala415=)
c.1217C>T (p.Pro406Leu)
n.1249C>T
c.624C>T (p.Ala208=)
c.1113C>T (p.Ala371=)
c.710C>T (p.Pro237Leu)
c.459C>T (p.Ala153=)
c.319+2218C>T
c.1343C>T (p.Pro448Leu)
 ClinVar dbSNP
11g.71435594G>CCA381701480DHCR7c.1209C>G (p.Ala403=)
c.1035C>G (p.Ala345=)
c.1260C>G (p.Ala420=)
c.1245C>G (p.Ala415=)
c.1217C>G (p.Pro406Arg)
n.1249C>G
c.624C>G (p.Ala208=)
c.1113C>G (p.Ala371=)
c.710C>G (p.Pro237Arg)
c.459C>G (p.Ala153=)
c.319+2218C>G
c.1343C>G (p.Pro448Arg)
11g.71435594G=CA1981486905DHCR7c.1209C= (p.Ala403=)
c.1035C= (p.Ala345=)
c.1260C= (p.Ala420=)
c.1245C= (p.Ala415=)
c.1217C= (p.Pro406=)
n.1249C=
c.624C= (p.Ala208=)
c.1113C= (p.Ala371=)
c.710C= (p.Pro237=)
c.459C= (p.Ala153=)
c.319+2218C=
c.1343C= (p.Pro448=)
11g.71435594G>TCA381701482DHCR7c.1209C>A (p.Ala403=)
c.1035C>A (p.Ala345=)
c.1260C>A (p.Ala420=)
c.1245C>A (p.Ala415=)
c.1217C>A (p.Pro406His)
n.1249C>A
c.624C>A (p.Ala208=)
c.1113C>A (p.Ala371=)
c.710C>A (p.Pro237His)
c.459C>A (p.Ala153=)
c.319+2218C>A
c.1343C>A (p.Pro448His)
11g.71435595G>ACA381701491DHCR7c.1208C>T (p.Ala403Val)
c.1034C>T (p.Ala345Val)
c.1259C>T (p.Ala420Val)
c.1244C>T (p.Ala415Val)
c.1216C>T (p.Pro406Ser)
n.1248C>T
c.623C>T (p.Ala208Val)
c.1112C>T (p.Ala371Val)
c.709C>T (p.Pro237Ser)
c.458C>T (p.Ala153Val)
c.319+2217C>T
c.1342C>T (p.Pro448Ser)
11g.71435595G>CCA381701494DHCR7c.1208C>G (p.Ala403Gly)
c.1034C>G (p.Ala345Gly)
c.1259C>G (p.Ala420Gly)
c.1244C>G (p.Ala415Gly)
c.1216C>G (p.Pro406Ala)
n.1248C>G
c.623C>G (p.Ala208Gly)
c.1112C>G (p.Ala371Gly)
c.709C>G (p.Pro237Ala)
c.458C>G (p.Ala153Gly)
c.319+2217C>G
c.1342C>G (p.Pro448Ala)
 gnomAD v4
11g.71435595G>TCA381701493DHCR7c.1208C>A (p.Ala403Asp)
c.1034C>A (p.Ala345Asp)
c.1259C>A (p.Ala420Asp)
c.1244C>A (p.Ala415Asp)
c.1216C>A (p.Pro406Thr)
n.1248C>A
c.623C>A (p.Ala208Asp)
c.1112C>A (p.Ala371Asp)
c.709C>A (p.Pro237Thr)
c.458C>A (p.Ala153Asp)
c.319+2217C>A
c.1342C>A (p.Pro448Thr)
 gnomAD v4
11g.71435596C>ACA381701497DHCR7c.1207G>T (p.Ala403Ser)
c.1033G>T (p.Ala345Ser)
c.1258G>T (p.Ala420Ser)
c.1243G>T (p.Ala415Ser)
c.1215G>T (p.Trp405Cys)
n.1247G>T
c.622G>T (p.Ala208Ser)
c.1111G>T (p.Ala371Ser)
c.708G>T (p.Trp236Cys)
c.457G>T (p.Ala153Ser)
c.319+2216G>T
c.1341G>T (p.Trp447Cys)
11g.71435596C=CA1981486906DHCR7c.1207G= (p.Ala403=)
c.1033G= (p.Ala345=)
c.1258G= (p.Ala420=)
c.1243G= (p.Ala415=)
c.1215G= (p.Trp405=)
n.1247G=
c.622G= (p.Ala208=)
c.1111G= (p.Ala371=)
c.708G= (p.Trp236=)
c.457G= (p.Ala153=)
c.319+2216G=
c.1341G= (p.Trp447=)
11g.71435596C>GCA224324238DHCR7c.1207G>C (p.Ala403Pro)
c.1033G>C (p.Ala345Pro)
c.1258G>C (p.Ala420Pro)
c.1243G>C (p.Ala415Pro)
c.1215G>C (p.Trp405Cys)
n.1247G>C
c.622G>C (p.Ala208Pro)
c.1111G>C (p.Ala371Pro)
c.708G>C (p.Trp236Cys)
c.457G>C (p.Ala153Pro)
c.319+2216G>C
c.1341G>C (p.Trp447Cys)
 dbSNP gnomAD v4
11g.71435596C>TCA381701500DHCR7c.1207G>A (p.Ala403Thr)
c.1033G>A (p.Ala345Thr)
c.1258G>A (p.Ala420Thr)
c.1243G>A (p.Ala415Thr)
c.1215G>A (p.Trp405Ter)
n.1247G>A
c.622G>A (p.Ala208Thr)
c.1111G>A (p.Ala371Thr)
c.708G>A (p.Trp236Ter)
c.457G>A (p.Ala153Thr)
c.319+2216G>A
c.1341G>A (p.Trp447Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.71435597C>ACA381701502DHCR7c.1206G>T (p.Val402=)
c.1032G>T (p.Val344=)
c.1257G>T (p.Val419=)
c.1242G>T (p.Val414=)
c.1214G>T (p.Trp405Leu)
n.1246G>T
c.621G>T (p.Val207=)
c.1110G>T (p.Val370=)
c.707G>T (p.Trp236Leu)
c.456G>T (p.Val152=)
c.319+2215G>T
c.1340G>T (p.Trp447Leu)
11g.71435597C>GCA381701504DHCR7c.1206G>C (p.Val402=)
c.1032G>C (p.Val344=)
c.1257G>C (p.Val419=)
c.1242G>C (p.Val414=)
c.1214G>C (p.Trp405Ser)
n.1246G>C
c.621G>C (p.Val207=)
c.1110G>C (p.Val370=)
c.707G>C (p.Trp236Ser)
c.456G>C (p.Val152=)
c.319+2215G>C
c.1340G>C (p.Trp447Ser)
11g.71435597C>TCA381701506DHCR7c.1206G>A (p.Val402=)
c.1032G>A (p.Val344=)
c.1257G>A (p.Val419=)
c.1242G>A (p.Val414=)
c.1214G>A (p.Trp405Ter)
n.1246G>A
c.621G>A (p.Val207=)
c.1110G>A (p.Val370=)
c.707G>A (p.Trp236Ter)
c.456G>A (p.Val152=)
c.319+2215G>A
c.1340G>A (p.Trp447Ter)
11g.71435598A>CCA381701508DHCR7c.1205T>G (p.Val402Gly)
c.1031T>G (p.Val344Gly)
c.1256T>G (p.Val419Gly)
c.1241T>G (p.Val414Gly)
c.1213T>G (p.Trp405Gly)
n.1245T>G
c.620T>G (p.Val207Gly)
c.1109T>G (p.Val370Gly)
c.706T>G (p.Trp236Gly)
c.455T>G (p.Val152Gly)
c.319+2214T>G
c.1339T>G (p.Trp447Gly)
 gnomAD v4
11g.71435598A>GCA381701510DHCR7c.1205T>C (p.Val402Ala)
c.1031T>C (p.Val344Ala)
c.1256T>C (p.Val419Ala)
c.1241T>C (p.Val414Ala)
c.1213T>C (p.Trp405Arg)
n.1245T>C
c.620T>C (p.Val207Ala)
c.1109T>C (p.Val370Ala)
c.706T>C (p.Trp236Arg)
c.455T>C (p.Val152Ala)
c.319+2214T>C
c.1339T>C (p.Trp447Arg)
11g.71435598A>TCA381701511DHCR7c.1205T>A (p.Val402Glu)
c.1031T>A (p.Val344Glu)
c.1256T>A (p.Val419Glu)
c.1241T>A (p.Val414Glu)
c.1213T>A (p.Trp405Arg)
n.1245T>A
c.620T>A (p.Val207Glu)
c.1109T>A (p.Val370Glu)
c.706T>A (p.Trp236Arg)
c.455T>A (p.Val152Glu)
c.319+2214T>A
c.1339T>A (p.Trp447Arg)
11g.71435599C>ACA381701512DHCR7c.1204G>T (p.Val402Leu)
c.1030G>T (p.Val344Leu)
c.1255G>T (p.Val419Leu)
c.1240G>T (p.Val414Leu)
c.1212G>T (p.Ala404=)
n.1244G>T
c.619G>T (p.Val207Leu)
c.1108G>T (p.Val370Leu)
c.705G>T (p.Ala235=)
c.454G>T (p.Val152Leu)
c.319+2213G>T
c.1338G>T (p.Ala446=)
11g.71435599C=CA1981486907DHCR7c.1204G= (p.Val402=)
c.1030G= (p.Val344=)
c.1255G= (p.Val419=)
c.1240G= (p.Val414=)
c.1212G= (p.Ala404=)
n.1244G=
c.619G= (p.Val207=)
c.1108G= (p.Val370=)
c.705G= (p.Ala235=)
c.454G= (p.Val152=)
c.319+2213G=
c.1338G= (p.Ala446=)
11g.71435599C>GCA6162288DHCR7c.1204G>C (p.Val402Leu)
c.1030G>C (p.Val344Leu)
c.1255G>C (p.Val419Leu)
c.1240G>C (p.Val414Leu)
c.1212G>C (p.Ala404=)
n.1244G>C
c.619G>C (p.Val207Leu)
c.1108G>C (p.Val370Leu)
c.705G>C (p.Ala235=)
c.454G>C (p.Val152Leu)
c.319+2213G>C
c.1338G>C (p.Ala446=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435599C>TCA6162287DHCR7c.1204G>A (p.Val402Met)
c.1030G>A (p.Val344Met)
c.1255G>A (p.Val419Met)
c.1240G>A (p.Val414Met)
c.1212G>A (p.Ala404=)
n.1244G>A
c.619G>A (p.Val207Met)
c.1108G>A (p.Val370Met)
c.705G>A (p.Ala235=)
c.454G>A (p.Val152Met)
c.319+2213G>A
c.1338G>A (p.Ala446=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435600G>ACA6162289DHCR7c.1203C>T (p.Gly401=)
c.1029C>T (p.Gly343=)
c.1254C>T (p.Gly418=)
c.1239C>T (p.Gly413=)
c.1211C>T (p.Ala404Val)
n.1243C>T
c.618C>T (p.Gly206=)
c.1107C>T (p.Gly369=)
c.704C>T (p.Ala235Val)
c.453C>T (p.Gly151=)
c.319+2212C>T
c.1337C>T (p.Ala446Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435600G>CCA381701515DHCR7c.1203C>G (p.Gly401=)
c.1029C>G (p.Gly343=)
c.1254C>G (p.Gly418=)
c.1239C>G (p.Gly413=)
c.1211C>G (p.Ala404Gly)
n.1243C>G
c.618C>G (p.Gly206=)
c.1107C>G (p.Gly369=)
c.704C>G (p.Ala235Gly)
c.453C>G (p.Gly151=)
c.319+2212C>G
c.1337C>G (p.Ala446Gly)
 gnomAD v4
11g.71435600G=CA1981486908DHCR7c.1203C= (p.Gly401=)
c.1029C= (p.Gly343=)
c.1254C= (p.Gly418=)
c.1239C= (p.Gly413=)
c.1211C= (p.Ala404=)
n.1243C=
c.618C= (p.Gly206=)
c.1107C= (p.Gly369=)
c.704C= (p.Ala235=)
c.453C= (p.Gly151=)
c.319+2212C=
c.1337C= (p.Ala446=)
11g.71435600G>TCA381701516DHCR7c.1203C>A (p.Gly401=)
c.1029C>A (p.Gly343=)
c.1254C>A (p.Gly418=)
c.1239C>A (p.Gly413=)
c.1211C>A (p.Ala404Glu)
n.1243C>A
c.618C>A (p.Gly206=)
c.1107C>A (p.Gly369=)
c.704C>A (p.Ala235Glu)
c.453C>A (p.Gly151=)
c.319+2212C>A
c.1337C>A (p.Ala446Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.71435601C>ACA381701519DHCR7c.1202G>T (p.Gly401Val)
c.1028G>T (p.Gly343Val)
c.1253G>T (p.Gly418Val)
c.1238G>T (p.Gly413Val)
c.1210G>T (p.Ala404Ser)
n.1242G>T
c.617G>T (p.Gly206Val)
c.1106G>T (p.Gly369Val)
c.703G>T (p.Ala235Ser)
c.452G>T (p.Gly151Val)
c.319+2211G>T
c.1336G>T (p.Ala446Ser)
 gnomAD v4
11g.71435601C>GCA381701520DHCR7c.1202G>C (p.Gly401Ala)
c.1028G>C (p.Gly343Ala)
c.1253G>C (p.Gly418Ala)
c.1238G>C (p.Gly413Ala)
c.1210G>C (p.Ala404Pro)
n.1242G>C
c.617G>C (p.Gly206Ala)
c.1106G>C (p.Gly369Ala)
c.703G>C (p.Ala235Pro)
c.452G>C (p.Gly151Ala)
c.319+2211G>C
c.1336G>C (p.Ala446Pro)
11g.71435601C>TCA381701522DHCR7c.1202G>A (p.Gly401Asp)
c.1028G>A (p.Gly343Asp)
c.1253G>A (p.Gly418Asp)
c.1238G>A (p.Gly413Asp)
c.1210G>A (p.Ala404Thr)
n.1242G>A
c.617G>A (p.Gly206Asp)
c.1106G>A (p.Gly369Asp)
c.703G>A (p.Ala235Thr)
c.452G>A (p.Gly151Asp)
c.319+2211G>A
c.1336G>A (p.Ala446Thr)
 gnomAD v4
11g.71435602C>ACA381701523DHCR7c.1201G>T (p.Gly401Cys)
c.1027G>T (p.Gly343Cys)
c.1252G>T (p.Gly418Cys)
c.1237G>T (p.Gly413Cys)
c.1209G>T (p.Gly403=)
n.1241G>T
c.616G>T (p.Gly206Cys)
c.1105G>T (p.Gly369Cys)
c.702G>T (p.Gly234=)
c.451G>T (p.Gly151Cys)
c.319+2210G>T
c.1335G>T (p.Gly445=)
11g.71435602C=CA1981486909DHCR7c.1201G= (p.Gly401=)
c.1027G= (p.Gly343=)
c.1252G= (p.Gly418=)
c.1237G= (p.Gly413=)
c.1209G= (p.Gly403=)
n.1241G=
c.616G= (p.Gly206=)
c.1105G= (p.Gly369=)
c.702G= (p.Gly234=)
c.451G= (p.Gly151=)
c.319+2210G=
c.1335G= (p.Gly445=)
11g.71435602C>GCA381701525DHCR7c.1201G>C (p.Gly401Arg)
c.1027G>C (p.Gly343Arg)
c.1252G>C (p.Gly418Arg)
c.1237G>C (p.Gly413Arg)
c.1209G>C (p.Gly403=)
n.1241G>C
c.616G>C (p.Gly206Arg)
c.1105G>C (p.Gly369Arg)
c.702G>C (p.Gly234=)
c.451G>C (p.Gly151Arg)
c.319+2210G>C
c.1335G>C (p.Gly445=)
11g.71435602C>TCA381701526DHCR7c.1201G>A (p.Gly401Ser)
c.1027G>A (p.Gly343Ser)
c.1252G>A (p.Gly418Ser)
c.1237G>A (p.Gly413Ser)
c.1209G>A (p.Gly403=)
n.1241G>A
c.616G>A (p.Gly206Ser)
c.1105G>A (p.Gly369Ser)
c.702G>A (p.Gly234=)
c.451G>A (p.Gly151Ser)
c.319+2210G>A
c.1335G>A (p.Gly445=)
 dbSNP gnomAD v2 gnomAD v4
11g.71435603C>ACA381701529DHCR7c.1200G>T (p.Trp400Cys)
c.1026G>T (p.Trp342Cys)
c.1251G>T (p.Trp417Cys)
c.1236G>T (p.Trp412Cys)
c.1208G>T (p.Gly403Val)
n.1240G>T
c.615G>T (p.Trp205Cys)
c.1104G>T (p.Trp368Cys)
c.701G>T (p.Gly234Val)
c.450G>T (p.Trp150Cys)
c.319+2209G>T
c.1334G>T (p.Gly445Val)
11g.71435603C>GCA381701531DHCR7c.1200G>C (p.Trp400Cys)
c.1026G>C (p.Trp342Cys)
c.1251G>C (p.Trp417Cys)
c.1236G>C (p.Trp412Cys)
c.1208G>C (p.Gly403Ala)
n.1240G>C
c.615G>C (p.Trp205Cys)
c.1104G>C (p.Trp368Cys)
c.701G>C (p.Gly234Ala)
c.450G>C (p.Trp150Cys)
c.319+2209G>C
c.1334G>C (p.Gly445Ala)
11g.71435603C>TCA381701533DHCR7c.1200G>A (p.Trp400Ter)
c.1026G>A (p.Trp342Ter)
c.1251G>A (p.Trp417Ter)
c.1236G>A (p.Trp412Ter)
c.1208G>A (p.Gly403Glu)
n.1240G>A
c.615G>A (p.Trp205Ter)
c.1104G>A (p.Trp368Ter)
c.701G>A (p.Gly234Glu)
c.450G>A (p.Trp150Ter)
c.319+2209G>A
c.1334G>A (p.Gly445Glu)
11g.71435604C>ACA381701536DHCR7c.1199G>T (p.Trp400Leu)
c.1025G>T (p.Trp342Leu)
c.1250G>T (p.Trp417Leu)
c.1235G>T (p.Trp412Leu)
c.1207G>T (p.Gly403Trp)
n.1239G>T
c.614G>T (p.Trp205Leu)
c.1103G>T (p.Trp368Leu)
c.700G>T (p.Gly234Trp)
c.449G>T (p.Trp150Leu)
c.319+2208G>T
c.1333G>T (p.Gly445Trp)
 dbSNP gnomAD v3 gnomAD v4
11g.71435604C=CA1981486910DHCR7c.1199G= (p.Trp400=)
c.1025G= (p.Trp342=)
c.1250G= (p.Trp417=)
c.1235G= (p.Trp412=)
c.1207G= (p.Gly403=)
n.1239G=
c.614G= (p.Trp205=)
c.1103G= (p.Trp368=)
c.700G= (p.Gly234=)
c.449G= (p.Trp150=)
c.319+2208G=
c.1333G= (p.Gly445=)
11g.71435604C>GCA381701537DHCR7c.1199G>C (p.Trp400Ser)
c.1025G>C (p.Trp342Ser)
c.1250G>C (p.Trp417Ser)
c.1235G>C (p.Trp412Ser)
c.1207G>C (p.Gly403Arg)
n.1239G>C
c.614G>C (p.Trp205Ser)
c.1103G>C (p.Trp368Ser)
c.700G>C (p.Gly234Arg)
c.449G>C (p.Trp150Ser)
c.319+2208G>C
c.1333G>C (p.Gly445Arg)
11g.71435604C>TCA16041545DHCR7c.1199G>A (p.Trp400Ter)
c.1025G>A (p.Trp342Ter)
c.1250G>A (p.Trp417Ter)
c.1235G>A (p.Trp412Ter)
c.1207G>A (p.Gly403Arg)
n.1239G>A
c.614G>A (p.Trp205Ter)
c.1103G>A (p.Trp368Ter)
c.700G>A (p.Gly234Arg)
c.449G>A (p.Trp150Ter)
c.319+2208G>A
c.1333G>A (p.Gly445Arg)
 ClinVar dbSNP
11g.71435605A=CA1981486911DHCR7c.1198T= (p.Trp400=)
c.1024T= (p.Trp342=)
c.1249T= (p.Trp417=)
c.1234T= (p.Trp412=)
c.1206T= (p.Ser402=)
n.1238T=
c.613T= (p.Trp205=)
c.1102T= (p.Trp368=)
c.699T= (p.Ser233=)
c.448T= (p.Trp150=)
c.319+2207T=
c.1332T= (p.Ser444=)
11g.71435605A>CCA224324239DHCR7c.1198T>G (p.Trp400Gly)
c.1024T>G (p.Trp342Gly)
c.1249T>G (p.Trp417Gly)
c.1234T>G (p.Trp412Gly)
c.1206T>G (p.Ser402=)
n.1238T>G
c.613T>G (p.Trp205Gly)
c.1102T>G (p.Trp368Gly)
c.699T>G (p.Ser233=)
c.448T>G (p.Trp150Gly)
c.319+2207T>G
c.1332T>G (p.Ser444=)
 dbSNP COSMIC COSMIC
11g.71435605A>GCA381701541DHCR7c.1198T>C (p.Trp400Arg)
c.1024T>C (p.Trp342Arg)
c.1249T>C (p.Trp417Arg)
c.1234T>C (p.Trp412Arg)
c.1206T>C (p.Ser402=)
n.1238T>C
c.613T>C (p.Trp205Arg)
c.1102T>C (p.Trp368Arg)
c.699T>C (p.Ser233=)
c.448T>C (p.Trp150Arg)
c.319+2207T>C
c.1332T>C (p.Ser444=)
 gnomAD v4
11g.71435605A>TCA381701539DHCR7c.1198T>A (p.Trp400Arg)
c.1024T>A (p.Trp342Arg)
c.1249T>A (p.Trp417Arg)
c.1234T>A (p.Trp412Arg)
c.1206T>A (p.Ser402=)
n.1238T>A
c.613T>A (p.Trp205Arg)
c.1102T>A (p.Trp368Arg)
c.699T>A (p.Ser233=)
c.448T>A (p.Trp150Arg)
c.319+2207T>A
c.1332T>A (p.Ser444=)
11g.71435606G>ACA381701545DHCR7c.1197C>T (p.Phe399=)
c.1023C>T (p.Phe341=)
c.1248C>T (p.Phe416=)
c.1233C>T (p.Phe411=)
c.1205C>T (p.Ser402Phe)
n.1237C>T
c.612C>T (p.Phe204=)
c.1101C>T (p.Phe367=)
c.698C>T (p.Ser233Phe)
c.447C>T (p.Phe149=)
c.319+2206C>T
c.1331C>T (p.Ser444Phe)
11g.71435606G>CCA381701543DHCR7c.1197C>G (p.Phe399Leu)
c.1023C>G (p.Phe341Leu)
c.1248C>G (p.Phe416Leu)
c.1233C>G (p.Phe411Leu)
c.1205C>G (p.Ser402Cys)
n.1237C>G
c.612C>G (p.Phe204Leu)
c.1101C>G (p.Phe367Leu)
c.698C>G (p.Ser233Cys)
c.447C>G (p.Phe149Leu)
c.319+2206C>G
c.1331C>G (p.Ser444Cys)
11g.71435606G>TCA381701547DHCR7c.1197C>A (p.Phe399Leu)
c.1023C>A (p.Phe341Leu)
c.1248C>A (p.Phe416Leu)
c.1233C>A (p.Phe411Leu)
c.1205C>A (p.Ser402Tyr)
n.1237C>A
c.612C>A (p.Phe204Leu)
c.1101C>A (p.Phe367Leu)
c.698C>A (p.Ser233Tyr)
c.447C>A (p.Phe149Leu)
c.319+2206C>A
c.1331C>A (p.Ser444Tyr)
11g.71435607A=CA1981486912DHCR7c.1196T= (p.Phe399=)
c.1022T= (p.Phe341=)
c.1247T= (p.Phe416=)
c.1232T= (p.Phe411=)
c.1204T= (p.Ser402=)
n.1236T=
c.611T= (p.Phe204=)
c.1100T= (p.Phe367=)
c.697T= (p.Ser233=)
c.446T= (p.Phe149=)
c.319+2205T=
c.1330T= (p.Ser444=)
11g.71435607A>CCA381701548DHCR7c.1196T>G (p.Phe399Cys)
c.1022T>G (p.Phe341Cys)
c.1247T>G (p.Phe416Cys)
c.1232T>G (p.Phe411Cys)
c.1204T>G (p.Ser402Ala)
n.1236T>G
c.611T>G (p.Phe204Cys)
c.1100T>G (p.Phe367Cys)
c.697T>G (p.Ser233Ala)
c.446T>G (p.Phe149Cys)
c.319+2205T>G
c.1330T>G (p.Ser444Ala)
11g.71435607A>GCA381701550DHCR7c.1196T>C (p.Phe399Ser)
c.1022T>C (p.Phe341Ser)
c.1247T>C (p.Phe416Ser)
c.1232T>C (p.Phe411Ser)
c.1204T>C (p.Ser402Pro)
n.1236T>C
c.611T>C (p.Phe204Ser)
c.1100T>C (p.Phe367Ser)
c.697T>C (p.Ser233Pro)
c.446T>C (p.Phe149Ser)
c.319+2205T>C
c.1330T>C (p.Ser444Pro)
11g.71435607A>TCA381701551DHCR7c.1196T>A (p.Phe399Tyr)
c.1022T>A (p.Phe341Tyr)
c.1247T>A (p.Phe416Tyr)
c.1232T>A (p.Phe411Tyr)
c.1204T>A (p.Ser402Thr)
n.1236T>A
c.611T>A (p.Phe204Tyr)
c.1100T>A (p.Phe367Tyr)
c.697T>A (p.Ser233Thr)
c.446T>A (p.Phe149Tyr)
c.319+2205T>A
c.1330T>A (p.Ser444Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435608A>CCA381701553DHCR7c.1195T>G (p.Phe399Val)
c.1021T>G (p.Phe341Val)
c.1246T>G (p.Phe416Val)
c.1231T>G (p.Phe411Val)
c.1203T>G (p.Ala401=)
n.1235T>G
c.610T>G (p.Phe204Val)
c.1099T>G (p.Phe367Val)
c.696T>G (p.Ala232=)
c.445T>G (p.Phe149Val)
c.319+2204T>G
c.1329T>G (p.Ala443=)
11g.71435608A>GCA381701554DHCR7c.1195T>C (p.Phe399Leu)
c.1021T>C (p.Phe341Leu)
c.1246T>C (p.Phe416Leu)
c.1231T>C (p.Phe411Leu)
c.1203T>C (p.Ala401=)
n.1235T>C
c.610T>C (p.Phe204Leu)
c.1099T>C (p.Phe367Leu)
c.696T>C (p.Ala232=)
c.445T>C (p.Phe149Leu)
c.319+2204T>C
c.1329T>C (p.Ala443=)
 gnomAD v4
11g.71435608A>TCA381701555DHCR7c.1195T>A (p.Phe399Ile)
c.1021T>A (p.Phe341Ile)
c.1246T>A (p.Phe416Ile)
c.1231T>A (p.Phe411Ile)
c.1203T>A (p.Ala401=)
n.1235T>A
c.610T>A (p.Phe204Ile)
c.1099T>A (p.Phe367Ile)
c.696T>A (p.Ala232=)
c.445T>A (p.Phe149Ile)
c.319+2204T>A
c.1329T>A (p.Ala443=)
11g.71435609G>ACA381701557DHCR7c.1194C>T (p.Gly398=)
c.1020C>T (p.Gly340=)
c.1245C>T (p.Gly415=)
c.1230C>T (p.Gly410=)
c.1202C>T (p.Ala401Val)
n.1234C>T
c.609C>T (p.Gly203=)
c.1098C>T (p.Gly366=)
c.695C>T (p.Ala232Val)
c.444C>T (p.Gly148=)
c.319+2203C>T
c.1328C>T (p.Ala443Val)
 ClinVar
11g.71435609G>CCA381701559DHCR7c.1194C>G (p.Gly398=)
c.1020C>G (p.Gly340=)
c.1245C>G (p.Gly415=)
c.1230C>G (p.Gly410=)
c.1202C>G (p.Ala401Gly)
n.1234C>G
c.609C>G (p.Gly203=)
c.1098C>G (p.Gly366=)
c.695C>G (p.Ala232Gly)
c.444C>G (p.Gly148=)
c.319+2203C>G
c.1328C>G (p.Ala443Gly)
11g.71435609G>TCA381701560DHCR7c.1194C>A (p.Gly398=)
c.1020C>A (p.Gly340=)
c.1245C>A (p.Gly415=)
c.1230C>A (p.Gly410=)
c.1202C>A (p.Ala401Asp)
n.1234C>A
c.609C>A (p.Gly203=)
c.1098C>A (p.Gly366=)
c.695C>A (p.Ala232Asp)
c.444C>A (p.Gly148=)
c.319+2203C>A
c.1328C>A (p.Ala443Asp)
11g.71435609_71435610delinsGCCA1981486913DHCR7c.1193_1194delinsGC (p.Gly398=)
c.1019_1020delinsGC (p.Gly340=)
c.1244_1245delinsGC (p.Gly415=)
c.1229_1230delinsGC (p.Gly410=)
c.1201_1202delinsGC (p.Ala401=)
n.1233_1234delinsGC
c.608_609delinsGC (p.Gly203=)
c.1097_1098delinsGC (p.Gly366=)
c.694_695delinsGC (p.Ala232=)
c.443_444delinsGC (p.Gly148=)
c.319+2202_319+2203delinsGC
c.1327_1328delinsGC (p.Ala443=)
11g.71435610C>ACA381701562DHCR7c.1193G>T (p.Gly398Val)
c.1019G>T (p.Gly340Val)
c.1244G>T (p.Gly415Val)
c.1229G>T (p.Gly410Val)
c.1201G>T (p.Ala401Ser)
n.1233G>T
c.608G>T (p.Gly203Val)
c.1097G>T (p.Gly366Val)
c.694G>T (p.Ala232Ser)
c.443G>T (p.Gly148Val)
c.319+2202G>T
c.1327G>T (p.Ala443Ser)
11g.71435610C>GCA381701564DHCR7c.1193G>C (p.Gly398Ala)
c.1019G>C (p.Gly340Ala)
c.1244G>C (p.Gly415Ala)
c.1229G>C (p.Gly410Ala)
c.1201G>C (p.Ala401Pro)
n.1233G>C
c.608G>C (p.Gly203Ala)
c.1097G>C (p.Gly366Ala)
c.694G>C (p.Ala232Pro)
c.443G>C (p.Gly148Ala)
c.319+2202G>C
c.1327G>C (p.Ala443Pro)
11g.71435610C>TCA381701565DHCR7c.1193G>A (p.Gly398Asp)
c.1019G>A (p.Gly340Asp)
c.1244G>A (p.Gly415Asp)
c.1229G>A (p.Gly410Asp)
c.1201G>A (p.Ala401Thr)
n.1233G>A
c.608G>A (p.Gly203Asp)
c.1097G>A (p.Gly366Asp)
c.694G>A (p.Ala232Thr)
c.443G>A (p.Gly148Asp)
c.319+2202G>A
c.1327G>A (p.Ala443Thr)
 gnomAD v4
11g.71435612delCA939372022DHCR7c.1193del (p.Gly398AlafsTer15)
c.1019del (p.Gly340AlafsTer15)
c.1244del (p.Gly415AlafsTer15)
c.1229del (p.Gly410AlafsTer15)
c.1201del (p.Ala401LeufsTer?)
n.1233del
c.608del (p.Gly203AlafsTer15)
c.1097del (p.Gly366AlafsTer15)
c.694del (p.Ala232LeufsTer?)
c.443del (p.Gly148AlafsTer15)
c.319+2202del
c.1327del (p.Ala443LeufsTer?)
 ClinVar dbSNP
11g.71435611C>ACA381701570DHCR7c.1192G>T (p.Gly398Cys)
c.1018G>T (p.Gly340Cys)
c.1243G>T (p.Gly415Cys)
c.1228G>T (p.Gly410Cys)
c.1200G>T (p.Arg400=)
n.1232G>T
c.607G>T (p.Gly203Cys)
c.1096G>T (p.Gly366Cys)
c.693G>T (p.Arg231=)
c.442G>T (p.Gly148Cys)
c.319+2201G>T
c.1326G>T (p.Arg442=)
11g.71435611C>GCA381701568DHCR7c.1192G>C (p.Gly398Arg)
c.1018G>C (p.Gly340Arg)
c.1243G>C (p.Gly415Arg)
c.1228G>C (p.Gly410Arg)
c.1200G>C (p.Arg400=)
n.1232G>C
c.607G>C (p.Gly203Arg)
c.1096G>C (p.Gly366Arg)
c.693G>C (p.Arg231=)
c.442G>C (p.Gly148Arg)
c.319+2201G>C
c.1326G>C (p.Arg442=)
11g.71435611C>TCA381701567DHCR7c.1192G>A (p.Gly398Ser)
c.1018G>A (p.Gly340Ser)
c.1243G>A (p.Gly415Ser)
c.1228G>A (p.Gly410Ser)
c.1200G>A (p.Arg400=)
n.1232G>A
c.607G>A (p.Gly203Ser)
c.1096G>A (p.Gly366Ser)
c.693G>A (p.Arg231=)
c.442G>A (p.Gly148Ser)
c.319+2201G>A
c.1326G>A (p.Arg442=)
 gnomAD v4
11g.71435612C>ACA381701572DHCR7c.1191G>T (p.Ser397=)
c.1017G>T (p.Ser339=)
c.1242G>T (p.Ser414=)
c.1227G>T (p.Ser409=)
c.1199G>T (p.Arg400Leu)
n.1231G>T
c.606G>T (p.Ser202=)
c.1095G>T (p.Ser365=)
c.692G>T (p.Arg231Leu)
c.441G>T (p.Ser147=)
c.319+2200G>T
c.1325G>T (p.Arg442Leu)
11g.71435612C=CA1981486914DHCR7c.1191G= (p.Ser397=)
c.1017G= (p.Ser339=)
c.1242G= (p.Ser414=)
c.1227G= (p.Ser409=)
c.1199G= (p.Arg400=)
n.1231G=
c.606G= (p.Ser202=)
c.1095G= (p.Ser365=)
c.692G= (p.Arg231=)
c.441G= (p.Ser147=)
c.319+2200G=
c.1325G= (p.Arg442=)
11g.71435612C>GCA381701573DHCR7c.1191G>C (p.Ser397=)
c.1017G>C (p.Ser339=)
c.1242G>C (p.Ser414=)
c.1227G>C (p.Ser409=)
c.1199G>C (p.Arg400Pro)
n.1231G>C
c.606G>C (p.Ser202=)
c.1095G>C (p.Ser365=)
c.692G>C (p.Arg231Pro)
c.441G>C (p.Ser147=)
c.319+2200G>C
c.1325G>C (p.Arg442Pro)
 ClinVar dbSNP gnomAD v4
11g.71435612C>TCA6162290DHCR7c.1191G>A (p.Ser397=)
c.1017G>A (p.Ser339=)
c.1242G>A (p.Ser414=)
c.1227G>A (p.Ser409=)
c.1199G>A (p.Arg400Gln)
n.1231G>A
c.606G>A (p.Ser202=)
c.1095G>A (p.Ser365=)
c.692G>A (p.Arg231Gln)
c.441G>A (p.Ser147=)
c.319+2200G>A
c.1325G>A (p.Arg442Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435613G>ACA6162291DHCR7c.1190C>T (p.Ser397Leu)
c.1016C>T (p.Ser339Leu)
c.1241C>T (p.Ser414Leu)
c.1226C>T (p.Ser409Leu)
c.1198C>T (p.Arg400Trp)
n.1230C>T
c.605C>T (p.Ser202Leu)
c.1094C>T (p.Ser365Leu)
c.691C>T (p.Arg231Trp)
c.440C>T (p.Ser147Leu)
c.319+2199C>T
c.1324C>T (p.Arg442Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435613G>CCA381701579DHCR7c.1190C>G (p.Ser397Trp)
c.1016C>G (p.Ser339Trp)
c.1241C>G (p.Ser414Trp)
c.1226C>G (p.Ser409Trp)
c.1198C>G (p.Arg400Gly)
n.1230C>G
c.605C>G (p.Ser202Trp)
c.1094C>G (p.Ser365Trp)
c.691C>G (p.Arg231Gly)
c.440C>G (p.Ser147Trp)
c.319+2199C>G
c.1324C>G (p.Arg442Gly)
11g.71435613G=CA1981486915DHCR7c.1190C= (p.Ser397=)
c.1016C= (p.Ser339=)
c.1241C= (p.Ser414=)
c.1226C= (p.Ser409=)
c.1198C= (p.Arg400=)
n.1230C=
c.605C= (p.Ser202=)
c.1094C= (p.Ser365=)
c.691C= (p.Arg231=)
c.440C= (p.Ser147=)
c.319+2199C=
c.1324C= (p.Arg442=)
11g.71435613G>TCA381701580DHCR7c.1190C>A (p.Ser397Ter)
c.1016C>A (p.Ser339Ter)
c.1241C>A (p.Ser414Ter)
c.1226C>A (p.Ser409Ter)
c.1198C>A (p.Arg400=)
n.1230C>A
c.605C>A (p.Ser202Ter)
c.1094C>A (p.Ser365Ter)
c.691C>A (p.Arg231=)
c.440C>A (p.Ser147Ter)
c.319+2199C>A
c.1324C>A (p.Arg442=)
 gnomAD v4
11g.71435614A>CCA381701581DHCR7c.1189T>G (p.Ser397Ala)
c.1015T>G (p.Ser339Ala)
c.1240T>G (p.Ser414Ala)
c.1225T>G (p.Ser409Ala)
c.1197T>G (p.Cys399Trp)
n.1229T>G
c.604T>G (p.Ser202Ala)
c.1093T>G (p.Ser365Ala)
c.690T>G (p.Cys230Trp)
c.439T>G (p.Ser147Ala)
c.319+2198T>G
c.1323T>G (p.Cys441Trp)
11g.71435614A>GCA381701582DHCR7c.1189T>C (p.Ser397Pro)
c.1015T>C (p.Ser339Pro)
c.1240T>C (p.Ser414Pro)
c.1225T>C (p.Ser409Pro)
c.1197T>C (p.Cys399=)
n.1229T>C
c.604T>C (p.Ser202Pro)
c.1093T>C (p.Ser365Pro)
c.690T>C (p.Cys230=)
c.439T>C (p.Ser147Pro)
c.319+2198T>C
c.1323T>C (p.Cys441=)
11g.71435614A>TCA381701583DHCR7c.1189T>A (p.Ser397Thr)
c.1015T>A (p.Ser339Thr)
c.1240T>A (p.Ser414Thr)
c.1225T>A (p.Ser409Thr)
c.1197T>A (p.Cys399Ter)
n.1229T>A
c.604T>A (p.Ser202Thr)
c.1093T>A (p.Ser365Thr)
c.690T>A (p.Cys230Ter)
c.439T>A (p.Ser147Thr)
c.319+2198T>A
c.1323T>A (p.Cys441Ter)
11g.71435615C>ACA381701584DHCR7c.1188G>T (p.Val396=)
c.1014G>T (p.Val338=)
c.1239G>T (p.Val413=)
c.1224G>T (p.Val408=)
c.1196G>T (p.Cys399Phe)
n.1228G>T
c.603G>T (p.Val201=)
c.1092G>T (p.Val364=)
c.689G>T (p.Cys230Phe)
c.438G>T (p.Val146=)
c.319+2197G>T
c.1322G>T (p.Cys441Phe)
 gnomAD v4
11g.71435615C=CA1981486916DHCR7c.1188G= (p.Val396=)
c.1014G= (p.Val338=)
c.1239G= (p.Val413=)
c.1224G= (p.Val408=)
c.1196G= (p.Cys399=)
n.1228G=
c.603G= (p.Val201=)
c.1092G= (p.Val364=)
c.689G= (p.Cys230=)
c.438G= (p.Val146=)
c.319+2197G=
c.1322G= (p.Cys441=)
11g.71435615C>GCA381701585DHCR7c.1188G>C (p.Val396=)
c.1014G>C (p.Val338=)
c.1239G>C (p.Val413=)
c.1224G>C (p.Val408=)
c.1196G>C (p.Cys399Ser)
n.1228G>C
c.603G>C (p.Val201=)
c.1092G>C (p.Val364=)
c.689G>C (p.Cys230Ser)
c.438G>C (p.Val146=)
c.319+2197G>C
c.1322G>C (p.Cys441Ser)
11g.71435615C>TCA381701586DHCR7c.1188G>A (p.Val396=)
c.1014G>A (p.Val338=)
c.1239G>A (p.Val413=)
c.1224G>A (p.Val408=)
c.1196G>A (p.Cys399Tyr)
n.1228G>A
c.603G>A (p.Val201=)
c.1092G>A (p.Val364=)
c.689G>A (p.Cys230Tyr)
c.438G>A (p.Val146=)
c.319+2197G>A
c.1322G>A (p.Cys441Tyr)
 ClinVar dbSNP gnomAD v4
11g.71435617_71435619dupCA2614857185DHCR7c.1186_1188dup (p.Val396_Ser397insVal)
c.1012_1014dup (p.Val338_Ser339insVal)
c.1237_1239dup (p.Val413_Ser414insVal)
c.1222_1224dup (p.Val408_Ser409insVal)
c.1194_1196dup (p.Trp398_Cys399insTrp)
n.1226_1228dup
c.601_603dup (p.Val201_Ser202insVal)
c.1090_1092dup (p.Val364_Ser365insVal)
c.687_689dup (p.Trp229_Cys230insTrp)
c.436_438dup (p.Val146_Ser147insVal)
c.319+2195_319+2197dup
c.1320_1322dup (p.Trp440_Cys441insTrp)
 gnomAD v4
11g.71435616A=CA1981486917DHCR7c.1187T= (p.Val396=)
c.1013T= (p.Val338=)
c.1238T= (p.Val413=)
c.1223T= (p.Val408=)
c.1195T= (p.Cys399=)
n.1227T=
c.602T= (p.Val201=)
c.1091T= (p.Val364=)
c.688T= (p.Cys230=)
c.437T= (p.Val146=)
c.319+2196T=
c.1321T= (p.Cys441=)
11g.71435616A>CCA381701590DHCR7c.1187T>G (p.Val396Gly)
c.1013T>G (p.Val338Gly)
c.1238T>G (p.Val413Gly)
c.1223T>G (p.Val408Gly)
c.1195T>G (p.Cys399Gly)
n.1227T>G
c.602T>G (p.Val201Gly)
c.1091T>G (p.Val364Gly)
c.688T>G (p.Cys230Gly)
c.437T>G (p.Val146Gly)
c.319+2196T>G
c.1321T>G (p.Cys441Gly)
11g.71435616A>GCA381701588DHCR7c.1187T>C (p.Val396Ala)
c.1013T>C (p.Val338Ala)
c.1238T>C (p.Val413Ala)
c.1223T>C (p.Val408Ala)
c.1195T>C (p.Cys399Arg)
n.1227T>C
c.602T>C (p.Val201Ala)
c.1091T>C (p.Val364Ala)
c.688T>C (p.Cys230Arg)
c.437T>C (p.Val146Ala)
c.319+2196T>C
c.1321T>C (p.Cys441Arg)
11g.71435616A>TCA6162292DHCR7c.1187T>A (p.Val396Glu)
c.1013T>A (p.Val338Glu)
c.1238T>A (p.Val413Glu)
c.1223T>A (p.Val408Glu)
c.1195T>A (p.Cys399Ser)
n.1227T>A
c.602T>A (p.Val201Glu)
c.1091T>A (p.Val364Glu)
c.688T>A (p.Cys230Ser)
c.437T>A (p.Val146Glu)
c.319+2196T>A
c.1321T>A (p.Cys441Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435617C>ACA381701593DHCR7c.1186G>T (p.Val396Leu)
c.1012G>T (p.Val338Leu)
c.1237G>T (p.Val413Leu)
c.1222G>T (p.Val408Leu)
c.1194G>T (p.Trp398Cys)
n.1226G>T
c.601G>T (p.Val201Leu)
c.1090G>T (p.Val364Leu)
c.687G>T (p.Trp229Cys)
c.436G>T (p.Val146Leu)
c.319+2195G>T
c.1320G>T (p.Trp440Cys)
11g.71435617C=CA1981486918DHCR7c.1186G= (p.Val396=)
c.1012G= (p.Val338=)
c.1237G= (p.Val413=)
c.1222G= (p.Val408=)
c.1194G= (p.Trp398=)
n.1226G=
c.601G= (p.Val201=)
c.1090G= (p.Val364=)
c.687G= (p.Trp229=)
c.436G= (p.Val146=)
c.319+2195G=
c.1320G= (p.Trp440=)
11g.71435617C>GCA381701594DHCR7c.1186G>C (p.Val396Leu)
c.1012G>C (p.Val338Leu)
c.1237G>C (p.Val413Leu)
c.1222G>C (p.Val408Leu)
c.1194G>C (p.Trp398Cys)
n.1226G>C
c.601G>C (p.Val201Leu)
c.1090G>C (p.Val364Leu)
c.687G>C (p.Trp229Cys)
c.436G>C (p.Val146Leu)
c.319+2195G>C
c.1320G>C (p.Trp440Cys)
11g.71435617C>TCA224324272DHCR7c.1186G>A (p.Val396Met)
c.1012G>A (p.Val338Met)
c.1237G>A (p.Val413Met)
c.1222G>A (p.Val408Met)
c.1194G>A (p.Trp398Ter)
n.1226G>A
c.601G>A (p.Val201Met)
c.1090G>A (p.Val364Met)
c.687G>A (p.Trp229Ter)
c.436G>A (p.Val146Met)
c.319+2195G>A
c.1320G>A (p.Trp440Ter)
 dbSNP gnomAD v3 gnomAD v4
11g.71435618C>ACA381701597DHCR7c.1185G>T (p.Leu395=)
c.1011G>T (p.Leu337=)
c.1236G>T (p.Leu412=)
c.1221G>T (p.Leu407=)
c.1193G>T (p.Trp398Leu)
n.1225G>T
c.600G>T (p.Leu200=)
c.1089G>T (p.Leu363=)
c.686G>T (p.Trp229Leu)
c.435G>T (p.Leu145=)
c.319+2194G>T
c.1319G>T (p.Trp440Leu)
11g.71435618C>GCA381701599DHCR7c.1185G>C (p.Leu395=)
c.1011G>C (p.Leu337=)
c.1236G>C (p.Leu412=)
c.1221G>C (p.Leu407=)
c.1193G>C (p.Trp398Ser)
n.1225G>C
c.600G>C (p.Leu200=)
c.1089G>C (p.Leu363=)
c.686G>C (p.Trp229Ser)
c.435G>C (p.Leu145=)
c.319+2194G>C
c.1319G>C (p.Trp440Ser)
11g.71435618C>TCA381701601DHCR7c.1185G>A (p.Leu395=)
c.1011G>A (p.Leu337=)
c.1236G>A (p.Leu412=)
c.1221G>A (p.Leu407=)
c.1193G>A (p.Trp398Ter)
n.1225G>A
c.600G>A (p.Leu200=)
c.1089G>A (p.Leu363=)
c.686G>A (p.Trp229Ter)
c.435G>A (p.Leu145=)
c.319+2194G>A
c.1319G>A (p.Trp440Ter)
11g.71435619A=CA1981486919DHCR7c.1184T= (p.Leu395=)
c.1010T= (p.Leu337=)
c.1235T= (p.Leu412=)
c.1220T= (p.Leu407=)
c.1192T= (p.Trp398=)
n.1224T=
c.599T= (p.Leu200=)
c.1088T= (p.Leu363=)
c.685T= (p.Trp229=)
c.434T= (p.Leu145=)
c.319+2193T=
c.1318T= (p.Trp440=)
11g.71435619A>CCA381701610DHCR7c.1184T>G (p.Leu395Arg)
c.1010T>G (p.Leu337Arg)
c.1235T>G (p.Leu412Arg)
c.1220T>G (p.Leu407Arg)
c.1192T>G (p.Trp398Gly)
n.1224T>G
c.599T>G (p.Leu200Arg)
c.1088T>G (p.Leu363Arg)
c.685T>G (p.Trp229Gly)
c.434T>G (p.Leu145Arg)
c.319+2193T>G
c.1318T>G (p.Trp440Gly)
11g.71435619A>GCA381701604DHCR7c.1184T>C (p.Leu395Pro)
c.1010T>C (p.Leu337Pro)
c.1235T>C (p.Leu412Pro)
c.1220T>C (p.Leu407Pro)
c.1192T>C (p.Trp398Arg)
n.1224T>C
c.599T>C (p.Leu200Pro)
c.1088T>C (p.Leu363Pro)
c.685T>C (p.Trp229Arg)
c.434T>C (p.Leu145Pro)
c.319+2193T>C
c.1318T>C (p.Trp440Arg)
 gnomAD v4
11g.71435619A>TCA381701608DHCR7c.1184T>A (p.Leu395Gln)
c.1010T>A (p.Leu337Gln)
c.1235T>A (p.Leu412Gln)
c.1220T>A (p.Leu407Gln)
c.1192T>A (p.Trp398Arg)
n.1224T>A
c.599T>A (p.Leu200Gln)
c.1088T>A (p.Leu363Gln)
c.685T>A (p.Trp229Arg)
c.434T>A (p.Leu145Gln)
c.319+2193T>A
c.1318T>A (p.Trp440Arg)
11g.71435619_71435620insCCA600241191DHCR7c.1183_1184insG (p.Leu395ArgfsTer?)
c.1009_1010insG (p.Leu337ArgfsTer?)
c.1234_1235insG (p.Leu412ArgfsTer?)
c.1219_1220insG (p.Leu407ArgfsTer?)
c.1191_1192insG (p.Trp398ValfsTer?)
n.1223_1224insG
c.598_599insG (p.Leu200ArgfsTer?)
c.1087_1088insG (p.Leu363ArgfsTer?)
c.684_685insG (p.Trp229ValfsTer?)
c.433_434insG (p.Leu145ArgfsTer?)
c.319+2192_319+2193insG
c.1317_1318insG (p.Trp440ValfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435620G>ACA475861081DHCR7c.1183C>T (p.Leu395=)
c.1009C>T (p.Leu337=)
c.1234C>T (p.Leu412=)
c.1219C>T (p.Leu407=)
c.1191C>T (p.Cys397=)
n.1223C>T
c.598C>T (p.Leu200=)
c.1087C>T (p.Leu363=)
c.684C>T (p.Cys228=)
c.433C>T (p.Leu145=)
c.319+2192C>T
c.1317C>T (p.Cys439=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435620G>CCA381701612DHCR7c.1183C>G (p.Leu395Val)
c.1009C>G (p.Leu337Val)
c.1234C>G (p.Leu412Val)
c.1219C>G (p.Leu407Val)
c.1191C>G (p.Cys397Trp)
n.1223C>G
c.598C>G (p.Leu200Val)
c.1087C>G (p.Leu363Val)
c.684C>G (p.Cys228Trp)
c.433C>G (p.Leu145Val)
c.319+2192C>G
c.1317C>G (p.Cys439Trp)
11g.71435620G=CA1981486920DHCR7c.1183C= (p.Leu395=)
c.1009C= (p.Leu337=)
c.1234C= (p.Leu412=)
c.1219C= (p.Leu407=)
c.1191C= (p.Cys397=)
n.1223C=
c.598C= (p.Leu200=)
c.1087C= (p.Leu363=)
c.684C= (p.Cys228=)
c.433C= (p.Leu145=)
c.319+2192C=
c.1317C= (p.Cys439=)
11g.71435620G>TCA381701614DHCR7c.1183C>A (p.Leu395Met)
c.1009C>A (p.Leu337Met)
c.1234C>A (p.Leu412Met)
c.1219C>A (p.Leu407Met)
c.1191C>A (p.Cys397Ter)
n.1223C>A
c.598C>A (p.Leu200Met)
c.1087C>A (p.Leu363Met)
c.684C>A (p.Cys228Ter)
c.433C>A (p.Leu145Met)
c.319+2192C>A
c.1317C>A (p.Cys439Ter)
11g.71435621C>ACA381701617DHCR7c.1182G>T (p.Leu394=)
c.1008G>T (p.Leu336=)
c.1233G>T (p.Leu411=)
c.1218G>T (p.Leu406=)
c.1190G>T (p.Cys397Phe)
n.1222G>T
c.597G>T (p.Leu199=)
c.1086G>T (p.Leu362=)
c.683G>T (p.Cys228Phe)
c.432G>T (p.Leu144=)
c.319+2191G>T
c.1316G>T (p.Cys439Phe)
11g.71435621C>GCA381701618DHCR7c.1182G>C (p.Leu394=)
c.1008G>C (p.Leu336=)
c.1233G>C (p.Leu411=)
c.1218G>C (p.Leu406=)
c.1190G>C (p.Cys397Ser)
n.1222G>C
c.597G>C (p.Leu199=)
c.1086G>C (p.Leu362=)
c.683G>C (p.Cys228Ser)
c.432G>C (p.Leu144=)
c.319+2191G>C
c.1316G>C (p.Cys439Ser)
11g.71435621C>TCA381701620DHCR7c.1182G>A (p.Leu394=)
c.1008G>A (p.Leu336=)
c.1233G>A (p.Leu411=)
c.1218G>A (p.Leu406=)
c.1190G>A (p.Cys397Tyr)
n.1222G>A
c.597G>A (p.Leu199=)
c.1086G>A (p.Leu362=)
c.683G>A (p.Cys228Tyr)
c.432G>A (p.Leu144=)
c.319+2191G>A
c.1316G>A (p.Cys439Tyr)
 ClinVar dbSNP

Number of alleles fetched