| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435513G>A | CA475860942 | DHCR7 | c.1290C>T (p.Tyr430=) c.1116C>T (p.Tyr372=) c.1341C>T (p.Tyr447=) c.1326C>T (p.Tyr442=) c.*53C>T (n.*53C>T) n.1330C>T c.705C>T (p.Tyr235=) c.1194C>T (p.Tyr398=) c.791C>T (n.791C>T) c.540C>T (p.Tyr180=) c.319+2299C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71435513G>C | CA6162269 | DHCR7 | c.1290C>G (p.Tyr430Ter) c.1116C>G (p.Tyr372Ter) c.1341C>G (p.Tyr447Ter) c.1326C>G (p.Tyr442Ter) c.*53C>G (n.*53C>G) n.1330C>G c.705C>G (p.Tyr235Ter) c.1194C>G (p.Tyr398Ter) c.791C>G (n.791C>G) c.540C>G (p.Tyr180Ter) c.319+2299C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71435513G= | CA1981486860 | DHCR7 | c.1290C= (p.Tyr430=) c.1116C= (p.Tyr372=) c.1341C= (p.Tyr447=) c.1326C= (p.Tyr442=) c.*53C= (n.*53C=) n.1330C= c.705C= (p.Tyr235=) c.1194C= (p.Tyr398=) c.791C= (n.791C=) c.540C= (p.Tyr180=) c.319+2299C= | |
| 11 | g.71435513G>T | CA381701050 | DHCR7 | c.1290C>A (p.Tyr430Ter) c.1116C>A (p.Tyr372Ter) c.1341C>A (p.Tyr447Ter) c.1326C>A (p.Tyr442Ter) c.*53C>A (n.*53C>A) n.1330C>A c.705C>A (p.Tyr235Ter) c.1194C>A (p.Tyr398Ter) c.791C>A (n.791C>A) c.540C>A (p.Tyr180Ter) c.319+2299C>A | |
| 11 | g.71435514T>A | CA381701053 | DHCR7 | c.1289A>T (p.Tyr430Phe) c.1115A>T (p.Tyr372Phe) c.1340A>T (p.Tyr447Phe) c.1325A>T (p.Tyr442Phe) c.*52A>T (n.*52A>T) n.1329A>T c.704A>T (p.Tyr235Phe) c.1193A>T (p.Tyr398Phe) c.790A>T (n.790A>T) c.539A>T (p.Tyr180Phe) c.319+2298A>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71435514T>C | CA381701055 | DHCR7 | c.1289A>G (p.Tyr430Cys) c.1115A>G (p.Tyr372Cys) c.1340A>G (p.Tyr447Cys) c.1325A>G (p.Tyr442Cys) c.*52A>G (n.*52A>G) n.1329A>G c.704A>G (p.Tyr235Cys) c.1193A>G (p.Tyr398Cys) c.790A>G (n.790A>G) c.539A>G (p.Tyr180Cys) c.319+2298A>G | |
| 11 | g.71435514T>G | CA381701057 | DHCR7 | c.1289A>C (p.Tyr430Ser) c.1115A>C (p.Tyr372Ser) c.1340A>C (p.Tyr447Ser) c.1325A>C (p.Tyr442Ser) c.*52A>C (n.*52A>C) n.1329A>C c.704A>C (p.Tyr235Ser) c.1193A>C (p.Tyr398Ser) c.790A>C (n.790A>C) c.539A>C (p.Tyr180Ser) c.319+2298A>C | |
| 11 | g.71435514T= | CA1981486861 | DHCR7 | c.1289A= (p.Tyr430=) c.1115A= (p.Tyr372=) c.1340A= (p.Tyr447=) c.1325A= (p.Tyr442=) c.*52A= (n.*52A=) n.1329A= c.704A= (p.Tyr235=) c.1193A= (p.Tyr398=) c.790A= (n.790A=) c.539A= (p.Tyr180=) c.319+2298A= | |
| 11 | g.71435515A>C | CA381701065 | DHCR7 | c.1288T>G (p.Tyr430Asp) c.1114T>G (p.Tyr372Asp) c.1339T>G (p.Tyr447Asp) c.1324T>G (p.Tyr442Asp) c.*51T>G (n.*51T>G) n.1328T>G c.703T>G (p.Tyr235Asp) c.1192T>G (p.Tyr398Asp) c.789T>G (n.789T>G) c.538T>G (p.Tyr180Asp) c.319+2297T>G | |
| 11 | g.71435515A>G | CA381701059 | DHCR7 | c.1288T>C (p.Tyr430His) c.1114T>C (p.Tyr372His) c.1339T>C (p.Tyr447His) c.1324T>C (p.Tyr442His) c.*51T>C (n.*51T>C) n.1328T>C c.703T>C (p.Tyr235His) c.1192T>C (p.Tyr398His) c.789T>C (n.789T>C) c.538T>C (p.Tyr180His) c.319+2297T>C | |
| 11 | g.71435515A>T | CA381701061 | DHCR7 | c.1288T>A (p.Tyr430Asn) c.1114T>A (p.Tyr372Asn) c.1339T>A (p.Tyr447Asn) c.1324T>A (p.Tyr442Asn) c.*51T>A (n.*51T>A) n.1328T>A c.703T>A (p.Tyr235Asn) c.1192T>A (p.Tyr398Asn) c.789T>A (n.789T>A) c.538T>A (p.Tyr180Asn) c.319+2297T>A | |
| 11 | g.71435516G>A | CA475860944 | DHCR7 | c.1287C>T (p.Pro429=) c.1113C>T (p.Pro371=) c.1338C>T (p.Pro446=) c.1323C>T (p.Pro441=) c.*50C>T (n.*50C>T) n.1327C>T c.702C>T (p.Pro234=) c.1191C>T (p.Pro397=) c.788C>T (n.788C>T) c.537C>T (p.Pro179=) c.319+2296C>T | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.71435516G>C | CA475860945 | DHCR7 | c.1287C>G (p.Pro429=) c.1113C>G (p.Pro371=) c.1338C>G (p.Pro446=) c.1323C>G (p.Pro441=) c.*50C>G (n.*50C>G) n.1327C>G c.702C>G (p.Pro234=) c.1191C>G (p.Pro397=) c.788C>G (n.788C>G) c.537C>G (p.Pro179=) c.319+2296C>G | gnomAD v4 |
| 11 | g.71435516G>T | CA475860946 | DHCR7 | c.1287C>A (p.Pro429=) c.1113C>A (p.Pro371=) c.1338C>A (p.Pro446=) c.1323C>A (p.Pro441=) c.*50C>A (n.*50C>A) n.1327C>A c.702C>A (p.Pro234=) c.1191C>A (p.Pro397=) c.788C>A (n.788C>A) c.537C>A (p.Pro179=) c.319+2296C>A | gnomAD v4 |
| 11 | g.71435518del | CA2574909184 | DHCR7 | c.1287del (p.Tyr430ThrfsTer11) c.1113del (p.Tyr372ThrfsTer11) c.1338del (p.Tyr447ThrfsTer11) c.1323del (p.Tyr442ThrfsTer11) c.*50del (n.*50del) n.1327del c.702del (p.Tyr235ThrfsTer11) c.1191del (p.Tyr398ThrfsTer11) c.788del (n.788del) c.537del (p.Tyr180ThrfsTer11) c.319+2296del | |
| 11 | g.71435517G>A | CA381701068 | DHCR7 | c.1286C>T (p.Pro429Leu) c.1112C>T (p.Pro371Leu) c.1337C>T (p.Pro446Leu) c.1322C>T (p.Pro441Leu) c.*49C>T (n.*49C>T) n.1326C>T c.701C>T (p.Pro234Leu) c.1190C>T (p.Pro397Leu) c.787C>T (n.787C>T) c.536C>T (p.Pro179Leu) c.319+2295C>T | dbSNP gnomAD v4 |
| 11 | g.71435517G>C | CA381701071 | DHCR7 | c.1286C>G (p.Pro429Arg) c.1112C>G (p.Pro371Arg) c.1337C>G (p.Pro446Arg) c.1322C>G (p.Pro441Arg) c.*49C>G (n.*49C>G) n.1326C>G c.701C>G (p.Pro234Arg) c.1190C>G (p.Pro397Arg) c.787C>G (n.787C>G) c.536C>G (p.Pro179Arg) c.319+2295C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71435517G= | CA1981486862 | DHCR7 | c.1286C= (p.Pro429=) c.1112C= (p.Pro371=) c.1337C= (p.Pro446=) c.1322C= (p.Pro441=) c.*49C= (n.*49C=) n.1326C= c.701C= (p.Pro234=) c.1190C= (p.Pro397=) c.787C= (n.787C=) c.536C= (p.Pro179=) c.319+2295C= | |
| 11 | g.71435517G>T | CA381701074 | DHCR7 | c.1286C>A (p.Pro429His) c.1112C>A (p.Pro371His) c.1337C>A (p.Pro446His) c.1322C>A (p.Pro441His) c.*49C>A (n.*49C>A) n.1326C>A c.701C>A (p.Pro234His) c.1190C>A (p.Pro397His) c.787C>A (n.787C>A) c.536C>A (p.Pro179His) c.319+2295C>A | |
| 11 | g.71435518G>A | CA381701077 | DHCR7 | c.1285C>T (p.Pro429Ser) c.1111C>T (p.Pro371Ser) c.1336C>T (p.Pro446Ser) c.1321C>T (p.Pro441Ser) c.*48C>T (n.*48C>T) n.1325C>T c.700C>T (p.Pro234Ser) c.1189C>T (p.Pro397Ser) c.786C>T (n.786C>T) c.535C>T (p.Pro179Ser) c.319+2294C>T | gnomAD v4 |
| 11 | g.71435518G>C | CA381701078 | DHCR7 | c.1285C>G (p.Pro429Ala) c.1111C>G (p.Pro371Ala) c.1336C>G (p.Pro446Ala) c.1321C>G (p.Pro441Ala) c.*48C>G (n.*48C>G) n.1325C>G c.700C>G (p.Pro234Ala) c.1189C>G (p.Pro397Ala) c.786C>G (n.786C>G) c.535C>G (p.Pro179Ala) c.319+2294C>G | |
| 11 | g.71435518G>T | CA381701084 | DHCR7 | c.1285C>A (p.Pro429Thr) c.1111C>A (p.Pro371Thr) c.1336C>A (p.Pro446Thr) c.1321C>A (p.Pro441Thr) c.*48C>A (n.*48C>A) n.1325C>A c.700C>A (p.Pro234Thr) c.1189C>A (p.Pro397Thr) c.786C>A (n.786C>A) c.535C>A (p.Pro179Thr) c.319+2294C>A | gnomAD v4 |
| 11 | g.71435519C>A | CA475860948 | DHCR7 | c.1284G>T (p.Leu428=) c.1110G>T (p.Leu370=) c.1335G>T (p.Leu445=) c.1320G>T (p.Leu440=) c.*47G>T (n.*47G>T) n.1324G>T c.699G>T (p.Leu233=) c.1188G>T (p.Leu396=) c.785G>T (n.785G>T) c.534G>T (p.Leu178=) c.319+2293G>T | gnomAD v4 |
| 11 | g.71435519C= | CA1981486863 | DHCR7 | c.1284G= (p.Leu428=) c.1110G= (p.Leu370=) c.1335G= (p.Leu445=) c.1320G= (p.Leu440=) c.*47G= (n.*47G=) n.1324G= c.699G= (p.Leu233=) c.1188G= (p.Leu396=) c.785G= (n.785G=) c.534G= (p.Leu178=) c.319+2293G= | |
| 11 | g.71435519C>G | CA475860949 | DHCR7 | c.1284G>C (p.Leu428=) c.1110G>C (p.Leu370=) c.1335G>C (p.Leu445=) c.1320G>C (p.Leu440=) c.*47G>C (n.*47G>C) n.1324G>C c.699G>C (p.Leu233=) c.1188G>C (p.Leu396=) c.785G>C (n.785G>C) c.534G>C (p.Leu178=) c.319+2293G>C | ClinVar gnomAD v4 |
| 11 | g.71435519C>T | CA6162270 | DHCR7 | c.1284G>A (p.Leu428=) c.1110G>A (p.Leu370=) c.1335G>A (p.Leu445=) c.1320G>A (p.Leu440=) c.*47G>A (n.*47G>A) n.1324G>A c.699G>A (p.Leu233=) c.1188G>A (p.Leu396=) c.785G>A (n.785G>A) c.534G>A (p.Leu178=) c.319+2293G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435520A>C | CA381701088 | DHCR7 | c.1283T>G (p.Leu428Arg) c.1109T>G (p.Leu370Arg) c.1334T>G (p.Leu445Arg) c.1319T>G (p.Leu440Arg) c.*46T>G (n.*46T>G) n.1323T>G c.698T>G (p.Leu233Arg) c.1187T>G (p.Leu396Arg) c.784T>G (n.784T>G) c.533T>G (p.Leu178Arg) c.319+2292T>G | |
| 11 | g.71435520A>G | CA381701091 | DHCR7 | c.1283T>C (p.Leu428Pro) c.1109T>C (p.Leu370Pro) c.1334T>C (p.Leu445Pro) c.1319T>C (p.Leu440Pro) c.*46T>C (n.*46T>C) n.1323T>C c.698T>C (p.Leu233Pro) c.1187T>C (p.Leu396Pro) c.784T>C (n.784T>C) c.533T>C (p.Leu178Pro) c.319+2292T>C | |
| 11 | g.71435520A>T | CA381701094 | DHCR7 | c.1283T>A (p.Leu428Gln) c.1109T>A (p.Leu370Gln) c.1334T>A (p.Leu445Gln) c.1319T>A (p.Leu440Gln) c.*46T>A (n.*46T>A) n.1323T>A c.698T>A (p.Leu233Gln) c.1187T>A (p.Leu396Gln) c.784T>A (n.784T>A) c.533T>A (p.Leu178Gln) c.319+2292T>A | |
| 11 | g.71435521G>A | CA475860951 | DHCR7 | c.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 | |
| 11 | g.71435521G>C | CA381701098 | DHCR7 | c.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 |
| 11 | g.71435521G= | CA1981486864 | DHCR7 | c.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= | |
| 11 | g.71435521G>T | CA381701095 | DHCR7 | c.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 | |
| 11 | g.71435522C>A | CA475860952 | DHCR7 | c.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 |
| 11 | g.71435522C>G | CA475860953 | DHCR7 | c.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 |
| 11 | g.71435522C>T | CA475860954 | DHCR7 | c.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 |
| 11 | g.71435523A>C | CA381701101 | DHCR7 | c.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 | |
| 11 | g.71435523A>G | CA381701104 | DHCR7 | c.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 | |
| 11 | g.71435523A>T | CA381701106 | DHCR7 | c.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 | |
| 11 | g.71435524G>A | CA475860958 | DHCR7 | c.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 | |
| 11 | g.71435524G>C | CA381701109 | DHCR7 | c.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 | |
| 11 | g.71435524G>T | CA381701113 | DHCR7 | c.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 |
| 11 | g.71435525G>A | CA475860959 | DHCR7 | c.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 |
| 11 | g.71435525G>C | CA381701116 | DHCR7 | c.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 | |
| 11 | g.71435525G= | CA1981486865 | DHCR7 | c.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= | |
| 11 | g.71435525G>T | CA6162271 | DHCR7 | c.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 |
| 11 | g.71435526T>A | CA381701120 | DHCR7 | c.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 | |
| 11 | g.71435526T>C | CA381701122 | DHCR7 | c.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 | |
| 11 | g.71435526T>G | CA381701125 | DHCR7 | c.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 |
| 11 | g.71435526T= | CA1981486866 | DHCR7 | c.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= |