Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71435401_71435416dupCA6162234DHCR7c.1393_1408dup (p.Leu470ArgfsTer?)
c.1219_1234dup (p.Leu412ArgfsTer?)
c.1444_1459dup (p.Leu487ArgfsTer?)
c.1429_1444dup (p.Leu482ArgfsTer?)
c.*156_*171dup (n.*156_*171dup)
n.1433_1448dup
c.808_823dup (p.Leu275ArgfsTer?)
c.1297_1312dup (p.Leu438ArgfsTer?)
c.894_909dup (n.894_909dup)
c.611+32_611+47dup (n.611+32_611+47dup)
c.319+2402_319+2417dup
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435415G>ACA381700522DHCR7c.1388C>T (p.Thr463Ile)
c.1214C>T (p.Thr405Ile)
c.1439C>T (p.Thr480Ile)
c.1424C>T (p.Thr475Ile)
c.*151C>T (n.*151C>T)
n.1428C>T
c.803C>T (p.Thr268Ile)
c.1292C>T (p.Thr431Ile)
c.889C>T (n.889C>T)
c.611+27C>T (n.611+27C>T)
c.319+2397C>T
 dbSNP gnomAD v4
11g.71435415G>CCA381700524DHCR7c.1388C>G (p.Thr463Ser)
c.1214C>G (p.Thr405Ser)
c.1439C>G (p.Thr480Ser)
c.1424C>G (p.Thr475Ser)
c.*151C>G (n.*151C>G)
n.1428C>G
c.803C>G (p.Thr268Ser)
c.1292C>G (p.Thr431Ser)
c.889C>G (n.889C>G)
c.611+27C>G (n.611+27C>G)
c.319+2397C>G
 gnomAD v4
11g.71435415G=CA1981486799DHCR7c.1388C= (p.Thr463=)
c.1214C= (p.Thr405=)
c.1439C= (p.Thr480=)
c.1424C= (p.Thr475=)
c.*151C= (n.*151C=)
n.1428C=
c.803C= (p.Thr268=)
c.1292C= (p.Thr431=)
c.889C= (n.889C=)
c.611+27C= (n.611+27C=)
c.319+2397C=
11g.71435415G>TCA381700526DHCR7c.1388C>A (p.Thr463Asn)
c.1214C>A (p.Thr405Asn)
c.1439C>A (p.Thr480Asn)
c.1424C>A (p.Thr475Asn)
c.*151C>A (n.*151C>A)
n.1428C>A
c.803C>A (p.Thr268Asn)
c.1292C>A (p.Thr431Asn)
c.889C>A (n.889C>A)
c.611+27C>A (n.611+27C>A)
c.319+2397C>A
11g.71435416T>ACA381700529DHCR7c.1387A>T (p.Thr463Ser)
c.1213A>T (p.Thr405Ser)
c.1438A>T (p.Thr480Ser)
c.1423A>T (p.Thr475Ser)
c.*150A>T (n.*150A>T)
n.1427A>T
c.802A>T (p.Thr268Ser)
c.1291A>T (p.Thr431Ser)
c.888A>T (n.888A>T)
c.611+26A>T (n.611+26A>T)
c.319+2396A>T
11g.71435416T>CCA381700531DHCR7c.1387A>G (p.Thr463Ala)
c.1213A>G (p.Thr405Ala)
c.1438A>G (p.Thr480Ala)
c.1423A>G (p.Thr475Ala)
c.*150A>G (n.*150A>G)
n.1427A>G
c.802A>G (p.Thr268Ala)
c.1291A>G (p.Thr431Ala)
c.888A>G (n.888A>G)
c.611+26A>G (n.611+26A>G)
c.319+2396A>G
11g.71435416T>GCA381700533DHCR7c.1387A>C (p.Thr463Pro)
c.1213A>C (p.Thr405Pro)
c.1438A>C (p.Thr480Pro)
c.1423A>C (p.Thr475Pro)
c.*150A>C (n.*150A>C)
n.1427A>C
c.802A>C (p.Thr268Pro)
c.1291A>C (p.Thr431Pro)
c.888A>C (n.888A>C)
c.611+26A>C (n.611+26A>C)
c.319+2396A>C
 dbSNP gnomAD v4
11g.71435417G>ACA475565714DHCR7c.1386C>T (p.Tyr462=)
c.1212C>T (p.Tyr404=)
c.1437C>T (p.Tyr479=)
c.1422C>T (p.Tyr474=)
c.*149C>T (n.*149C>T)
n.1426C>T
c.801C>T (p.Tyr267=)
c.1290C>T (p.Tyr430=)
c.887C>T (n.887C>T)
c.611+25C>T (n.611+25C>T)
c.319+2395C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435417G>CCA381700535DHCR7c.1386C>G (p.Tyr462Ter)
c.1212C>G (p.Tyr404Ter)
c.1437C>G (p.Tyr479Ter)
c.1422C>G (p.Tyr474Ter)
c.*149C>G (n.*149C>G)
n.1426C>G
c.801C>G (p.Tyr267Ter)
c.1290C>G (p.Tyr430Ter)
c.887C>G (n.887C>G)
c.611+25C>G (n.611+25C>G)
c.319+2395C>G
11g.71435417G=CA1981486800DHCR7c.1386C= (p.Tyr462=)
c.1212C= (p.Tyr404=)
c.1437C= (p.Tyr479=)
c.1422C= (p.Tyr474=)
c.*149C= (n.*149C=)
n.1426C=
c.801C= (p.Tyr267=)
c.1290C= (p.Tyr430=)
c.887C= (n.887C=)
c.611+25C= (n.611+25C=)
c.319+2395C=
11g.71435417G>TCA381700536DHCR7c.1386C>A (p.Tyr462Ter)
c.1212C>A (p.Tyr404Ter)
c.1437C>A (p.Tyr479Ter)
c.1422C>A (p.Tyr474Ter)
c.*149C>A (n.*149C>A)
n.1426C>A
c.801C>A (p.Tyr267Ter)
c.1290C>A (p.Tyr430Ter)
c.887C>A (n.887C>A)
c.611+25C>A (n.611+25C>A)
c.319+2395C>A
 ClinVar dbSNP
11g.71435418T>ACA381700539DHCR7c.1385A>T (p.Tyr462Phe)
c.1211A>T (p.Tyr404Phe)
c.1436A>T (p.Tyr479Phe)
c.1421A>T (p.Tyr474Phe)
c.*148A>T (n.*148A>T)
n.1425A>T
c.800A>T (p.Tyr267Phe)
c.1289A>T (p.Tyr430Phe)
c.886A>T (n.886A>T)
c.611+24A>T (n.611+24A>T)
c.319+2394A>T
11g.71435418T>CCA381700543DHCR7c.1385A>G (p.Tyr462Cys)
c.1211A>G (p.Tyr404Cys)
c.1436A>G (p.Tyr479Cys)
c.1421A>G (p.Tyr474Cys)
c.*148A>G (n.*148A>G)
n.1425A>G
c.800A>G (p.Tyr267Cys)
c.1289A>G (p.Tyr430Cys)
c.886A>G (n.886A>G)
c.611+24A>G (n.611+24A>G)
c.319+2394A>G
 ClinVar COSMIC COSMIC
11g.71435418T>GCA381700541DHCR7c.1385A>C (p.Tyr462Ser)
c.1211A>C (p.Tyr404Ser)
c.1436A>C (p.Tyr479Ser)
c.1421A>C (p.Tyr474Ser)
c.*148A>C (n.*148A>C)
n.1425A>C
c.800A>C (p.Tyr267Ser)
c.1289A>C (p.Tyr430Ser)
c.886A>C (n.886A>C)
c.611+24A>C (n.611+24A>C)
c.319+2394A>C
 dbSNP gnomAD v4
11g.71435419A=CA1981486801DHCR7c.1384T= (p.Tyr462=)
c.1210T= (p.Tyr404=)
c.1435T= (p.Tyr479=)
c.1420T= (p.Tyr474=)
c.*147T= (n.*147T=)
n.1424T=
c.799T= (p.Tyr267=)
c.1288T= (p.Tyr430=)
c.885T= (n.885T=)
c.611+23T= (n.611+23T=)
c.319+2393T=
11g.71435419A>CCA381700545DHCR7c.1384T>G (p.Tyr462Asp)
c.1210T>G (p.Tyr404Asp)
c.1435T>G (p.Tyr479Asp)
c.1420T>G (p.Tyr474Asp)
c.*147T>G (n.*147T>G)
n.1424T>G
c.799T>G (p.Tyr267Asp)
c.1288T>G (p.Tyr430Asp)
c.885T>G (n.885T>G)
c.611+23T>G (n.611+23T>G)
c.319+2393T>G
11g.71435419A>GCA221656DHCR7c.1384T>C (p.Tyr462His)
c.1210T>C (p.Tyr404His)
c.1435T>C (p.Tyr479His)
c.1420T>C (p.Tyr474His)
c.*147T>C (n.*147T>C)
n.1424T>C
c.799T>C (p.Tyr267His)
c.1288T>C (p.Tyr430His)
c.885T>C (n.885T>C)
c.611+23T>C (n.611+23T>C)
c.319+2393T>C
 ClinVar dbSNP gnomAD v4
11g.71435419A>TCA381700548DHCR7c.1384T>A (p.Tyr462Asn)
c.1210T>A (p.Tyr404Asn)
c.1435T>A (p.Tyr479Asn)
c.1420T>A (p.Tyr474Asn)
c.*147T>A (n.*147T>A)
n.1424T>A
c.799T>A (p.Tyr267Asn)
c.1288T>A (p.Tyr430Asn)
c.885T>A (n.885T>A)
c.611+23T>A (n.611+23T>A)
c.319+2393T>A
11g.71435420G>ACA475565732DHCR7c.1383C>T (p.Arg461=)
c.1209C>T (p.Arg403=)
c.1434C>T (p.Arg478=)
c.1419C>T (p.Arg473=)
c.*146C>T (n.*146C>T)
n.1423C>T
c.798C>T (p.Arg266=)
c.1287C>T (p.Arg429=)
c.884C>T (n.884C>T)
c.611+22C>T (n.611+22C>T)
c.319+2392C>T
11g.71435420G>CCA475565736DHCR7c.1383C>G (p.Arg461=)
c.1209C>G (p.Arg403=)
c.1434C>G (p.Arg478=)
c.1419C>G (p.Arg473=)
c.*146C>G (n.*146C>G)
n.1423C>G
c.798C>G (p.Arg266=)
c.1287C>G (p.Arg429=)
c.884C>G (n.884C>G)
c.611+22C>G (n.611+22C>G)
c.319+2392C>G
11g.71435420G>TCA475565739DHCR7c.1383C>A (p.Arg461=)
c.1209C>A (p.Arg403=)
c.1434C>A (p.Arg478=)
c.1419C>A (p.Arg473=)
c.*146C>A (n.*146C>A)
n.1423C>A
c.798C>A (p.Arg266=)
c.1287C>A (p.Arg429=)
c.884C>A (n.884C>A)
c.611+22C>A (n.611+22C>A)
c.319+2392C>A
11g.71435421C>ACA381700551DHCR7c.1382G>T (p.Arg461Leu)
c.1208G>T (p.Arg403Leu)
c.1433G>T (p.Arg478Leu)
c.1418G>T (p.Arg473Leu)
c.*145G>T (n.*145G>T)
n.1422G>T
c.797G>T (p.Arg266Leu)
c.1286G>T (p.Arg429Leu)
c.883G>T (n.883G>T)
c.611+21G>T (n.611+21G>T)
c.319+2391G>T
11g.71435421C=CA1981486802DHCR7c.1382G= (p.Arg461=)
c.1208G= (p.Arg403=)
c.1433G= (p.Arg478=)
c.1418G= (p.Arg473=)
c.*145G= (n.*145G=)
n.1422G=
c.797G= (p.Arg266=)
c.1286G= (p.Arg429=)
c.883G= (n.883G=)
c.611+21G= (n.611+21G=)
c.319+2391G=
11g.71435421C>GCA381700553DHCR7c.1382G>C (p.Arg461Pro)
c.1208G>C (p.Arg403Pro)
c.1433G>C (p.Arg478Pro)
c.1418G>C (p.Arg473Pro)
c.*145G>C (n.*145G>C)
n.1422G>C
c.797G>C (p.Arg266Pro)
c.1286G>C (p.Arg429Pro)
c.883G>C (n.883G>C)
c.611+21G>C (n.611+21G>C)
c.319+2391G>C
11g.71435421C>TCA381700554DHCR7c.1382G>A (p.Arg461His)
c.1208G>A (p.Arg403His)
c.1433G>A (p.Arg478His)
c.1418G>A (p.Arg473His)
c.*145G>A (n.*145G>A)
n.1422G>A
c.797G>A (p.Arg266His)
c.1286G>A (p.Arg429His)
c.883G>A (n.883G>A)
c.611+21G>A (n.611+21G>A)
c.319+2391G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435422G>ACA6162242DHCR7c.1381C>T (p.Arg461Cys)
c.1207C>T (p.Arg403Cys)
c.1432C>T (p.Arg478Cys)
c.1417C>T (p.Arg473Cys)
c.*144C>T (n.*144C>T)
n.1421C>T
c.796C>T (p.Arg266Cys)
c.1285C>T (p.Arg429Cys)
c.882C>T (n.882C>T)
c.611+20C>T (n.611+20C>T)
c.319+2390C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435422G>CCA381700556DHCR7c.1381C>G (p.Arg461Gly)
c.1207C>G (p.Arg403Gly)
c.1432C>G (p.Arg478Gly)
c.1417C>G (p.Arg473Gly)
c.*144C>G (n.*144C>G)
n.1421C>G
c.796C>G (p.Arg266Gly)
c.1285C>G (p.Arg429Gly)
c.882C>G (n.882C>G)
c.611+20C>G (n.611+20C>G)
c.319+2390C>G
11g.71435422G=CA1981486803DHCR7c.1381C= (p.Arg461=)
c.1207C= (p.Arg403=)
c.1432C= (p.Arg478=)
c.1417C= (p.Arg473=)
c.*144C= (n.*144C=)
n.1421C=
c.796C= (p.Arg266=)
c.1285C= (p.Arg429=)
c.882C= (n.882C=)
c.611+20C= (n.611+20C=)
c.319+2390C=
11g.71435422G>TCA381700558DHCR7c.1381C>A (p.Arg461Ser)
c.1207C>A (p.Arg403Ser)
c.1432C>A (p.Arg478Ser)
c.1417C>A (p.Arg473Ser)
c.*144C>A (n.*144C>A)
n.1421C>A
c.796C>A (p.Arg266Ser)
c.1285C>A (p.Arg429Ser)
c.882C>A (n.882C>A)
c.611+20C>A (n.611+20C>A)
c.319+2390C>A
11g.71435423C>ACA381700562DHCR7c.1380G>T (p.Glu460Asp)
c.1206G>T (p.Glu402Asp)
c.1431G>T (p.Glu477Asp)
c.1416G>T (p.Glu472Asp)
c.*143G>T (n.*143G>T)
n.1420G>T
c.795G>T (p.Glu265Asp)
c.1284G>T (p.Glu428Asp)
c.881G>T (n.881G>T)
c.611+19G>T (n.611+19G>T)
c.319+2389G>T
11g.71435423C>GCA381700564DHCR7c.1380G>C (p.Glu460Asp)
c.1206G>C (p.Glu402Asp)
c.1431G>C (p.Glu477Asp)
c.1416G>C (p.Glu472Asp)
c.*143G>C (n.*143G>C)
n.1420G>C
c.795G>C (p.Glu265Asp)
c.1284G>C (p.Glu428Asp)
c.881G>C (n.881G>C)
c.611+19G>C (n.611+19G>C)
c.319+2389G>C
11g.71435423C>TCA475565756DHCR7c.1380G>A (p.Glu460=)
c.1206G>A (p.Glu402=)
c.1431G>A (p.Glu477=)
c.1416G>A (p.Glu472=)
c.*143G>A (n.*143G>A)
n.1420G>A
c.795G>A (p.Glu265=)
c.1284G>A (p.Glu428=)
c.881G>A (n.881G>A)
c.611+19G>A (n.611+19G>A)
c.319+2389G>A
 ClinVar gnomAD v4 COSMIC COSMIC
11g.71435424T>ACA381700567DHCR7c.1379A>T (p.Glu460Val)
c.1205A>T (p.Glu402Val)
c.1430A>T (p.Glu477Val)
c.1415A>T (p.Glu472Val)
c.*142A>T (n.*142A>T)
n.1419A>T
c.794A>T (p.Glu265Val)
c.1283A>T (p.Glu428Val)
c.880A>T (n.880A>T)
c.611+18A>T (n.611+18A>T)
c.319+2388A>T
11g.71435424T>CCA6162243DHCR7c.1379A>G (p.Glu460Gly)
c.1205A>G (p.Glu402Gly)
c.1430A>G (p.Glu477Gly)
c.1415A>G (p.Glu472Gly)
c.*142A>G (n.*142A>G)
n.1419A>G
c.794A>G (p.Glu265Gly)
c.1283A>G (p.Glu428Gly)
c.880A>G (n.880A>G)
c.611+18A>G (n.611+18A>G)
c.319+2388A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435424T>GCA381700569DHCR7c.1379A>C (p.Glu460Ala)
c.1205A>C (p.Glu402Ala)
c.1430A>C (p.Glu477Ala)
c.1415A>C (p.Glu472Ala)
c.*142A>C (n.*142A>C)
n.1419A>C
c.794A>C (p.Glu265Ala)
c.1283A>C (p.Glu428Ala)
c.880A>C (n.880A>C)
c.611+18A>C (n.611+18A>C)
c.319+2388A>C
11g.71435424T=CA1981486804DHCR7c.1379A= (p.Glu460=)
c.1205A= (p.Glu402=)
c.1430A= (p.Glu477=)
c.1415A= (p.Glu472=)
c.*142A= (n.*142A=)
n.1419A=
c.794A= (p.Glu265=)
c.1283A= (p.Glu428=)
c.880A= (n.880A=)
c.611+18A= (n.611+18A=)
c.319+2388A=
11g.71435425C>ACA381700571DHCR7c.1378G>T (p.Glu460Ter)
c.1204G>T (p.Glu402Ter)
c.1429G>T (p.Glu477Ter)
c.1414G>T (p.Glu472Ter)
c.*141G>T (n.*141G>T)
n.1418G>T
c.793G>T (p.Glu265Ter)
c.1282G>T (p.Glu428Ter)
c.879G>T (n.879G>T)
c.611+17G>T (n.611+17G>T)
c.319+2387G>T
11g.71435425C>GCA381700575DHCR7c.1378G>C (p.Glu460Gln)
c.1204G>C (p.Glu402Gln)
c.1429G>C (p.Glu477Gln)
c.1414G>C (p.Glu472Gln)
c.*141G>C (n.*141G>C)
n.1418G>C
c.793G>C (p.Glu265Gln)
c.1282G>C (p.Glu428Gln)
c.879G>C (n.879G>C)
c.611+17G>C (n.611+17G>C)
c.319+2387G>C
11g.71435425C>TCA381700572DHCR7c.1378G>A (p.Glu460Lys)
c.1204G>A (p.Glu402Lys)
c.1429G>A (p.Glu477Lys)
c.1414G>A (p.Glu472Lys)
c.*141G>A (n.*141G>A)
n.1418G>A
c.793G>A (p.Glu265Lys)
c.1282G>A (p.Glu428Lys)
c.879G>A (n.879G>A)
c.611+17G>A (n.611+17G>A)
c.319+2387G>A
11g.71435426C>ACA381700577DHCR7c.1377G>T (p.Trp459Cys)
c.1203G>T (p.Trp401Cys)
c.1428G>T (p.Trp476Cys)
c.1413G>T (p.Trp471Cys)
c.*140G>T (n.*140G>T)
n.1417G>T
c.792G>T (p.Trp264Cys)
c.1281G>T (p.Trp427Cys)
c.878G>T (n.878G>T)
c.611+16G>T (n.611+16G>T)
c.319+2386G>T
11g.71435426C>GCA381700579DHCR7c.1377G>C (p.Trp459Cys)
c.1203G>C (p.Trp401Cys)
c.1428G>C (p.Trp476Cys)
c.1413G>C (p.Trp471Cys)
c.*140G>C (n.*140G>C)
n.1417G>C
c.792G>C (p.Trp264Cys)
c.1281G>C (p.Trp427Cys)
c.878G>C (n.878G>C)
c.611+16G>C (n.611+16G>C)
c.319+2386G>C
11g.71435426C>TCA381700580DHCR7c.1377G>A (p.Trp459Ter)
c.1203G>A (p.Trp401Ter)
c.1428G>A (p.Trp476Ter)
c.1413G>A (p.Trp471Ter)
c.*140G>A (n.*140G>A)
n.1417G>A
c.792G>A (p.Trp264Ter)
c.1281G>A (p.Trp427Ter)
c.878G>A (n.878G>A)
c.611+16G>A (n.611+16G>A)
c.319+2386G>A
11g.71435427C>ACA381700582DHCR7c.1376G>T (p.Trp459Leu)
c.1202G>T (p.Trp401Leu)
c.1427G>T (p.Trp476Leu)
c.1412G>T (p.Trp471Leu)
c.*139G>T (n.*139G>T)
n.1416G>T
c.791G>T (p.Trp264Leu)
c.1280G>T (p.Trp427Leu)
c.877G>T (n.877G>T)
c.611+15G>T (n.611+15G>T)
c.319+2385G>T
11g.71435427C=CA1981486805DHCR7c.1376G= (p.Trp459=)
c.1202G= (p.Trp401=)
c.1427G= (p.Trp476=)
c.1412G= (p.Trp471=)
c.*139G= (n.*139G=)
n.1416G=
c.791G= (p.Trp264=)
c.1280G= (p.Trp427=)
c.877G= (n.877G=)
c.611+15G= (n.611+15G=)
c.319+2385G=
11g.71435427C>GCA381700584DHCR7c.1376G>C (p.Trp459Ser)
c.1202G>C (p.Trp401Ser)
c.1427G>C (p.Trp476Ser)
c.1412G>C (p.Trp471Ser)
c.*139G>C (n.*139G>C)
n.1416G>C
c.791G>C (p.Trp264Ser)
c.1280G>C (p.Trp427Ser)
c.877G>C (n.877G>C)
c.611+15G>C (n.611+15G>C)
c.319+2385G>C
11g.71435427C>TCA381700586DHCR7c.1376G>A (p.Trp459Ter)
c.1202G>A (p.Trp401Ter)
c.1427G>A (p.Trp476Ter)
c.1412G>A (p.Trp471Ter)
c.*139G>A (n.*139G>A)
n.1416G>A
c.791G>A (p.Trp264Ter)
c.1280G>A (p.Trp427Ter)
c.877G>A (n.877G>A)
c.611+15G>A (n.611+15G>A)
c.319+2385G>A
 ClinVar dbSNP
11g.71435428A=CA1981486806DHCR7c.1375T= (p.Trp459=)
c.1201T= (p.Trp401=)
c.1426T= (p.Trp476=)
c.1411T= (p.Trp471=)
c.*138T= (n.*138T=)
n.1415T=
c.790T= (p.Trp264=)
c.1279T= (p.Trp427=)
c.876T= (n.876T=)
c.611+14T= (n.611+14T=)
c.319+2384T=
11g.71435428A>CCA381700589DHCR7c.1375T>G (p.Trp459Gly)
c.1201T>G (p.Trp401Gly)
c.1426T>G (p.Trp476Gly)
c.1411T>G (p.Trp471Gly)
c.*138T>G (n.*138T>G)
n.1415T>G
c.790T>G (p.Trp264Gly)
c.1279T>G (p.Trp427Gly)
c.876T>G (n.876T>G)
c.611+14T>G (n.611+14T>G)
c.319+2384T>G
11g.71435428A>GCA381700591DHCR7c.1375T>C (p.Trp459Arg)
c.1201T>C (p.Trp401Arg)
c.1426T>C (p.Trp476Arg)
c.1411T>C (p.Trp471Arg)
c.*138T>C (n.*138T>C)
n.1415T>C
c.790T>C (p.Trp264Arg)
c.1279T>C (p.Trp427Arg)
c.876T>C (n.876T>C)
c.611+14T>C (n.611+14T>C)
c.319+2384T>C
 dbSNP
11g.71435428A>TCA381700593DHCR7c.1375T>A (p.Trp459Arg)
c.1201T>A (p.Trp401Arg)
c.1426T>A (p.Trp476Arg)
c.1411T>A (p.Trp471Arg)
c.*138T>A (n.*138T>A)
n.1415T>A
c.790T>A (p.Trp264Arg)
c.1279T>A (p.Trp427Arg)
c.876T>A (n.876T>A)
c.611+14T>A (n.611+14T>A)
c.319+2384T>A
11g.71435429G>ACA475565799DHCR7c.1374C>T (p.Asp458=)
c.1200C>T (p.Asp400=)
c.1425C>T (p.Asp475=)
c.1410C>T (p.Asp470=)
c.*137C>T (n.*137C>T)
n.1414C>T
c.789C>T (p.Asp263=)
c.1278C>T (p.Asp426=)
c.875C>T (n.875C>T)
c.611+13C>T (n.611+13C>T)
c.319+2383C>T
11g.71435429G>CCA381700595DHCR7c.1374C>G (p.Asp458Glu)
c.1200C>G (p.Asp400Glu)
c.1425C>G (p.Asp475Glu)
c.1410C>G (p.Asp470Glu)
c.*137C>G (n.*137C>G)
n.1414C>G
c.789C>G (p.Asp263Glu)
c.1278C>G (p.Asp426Glu)
c.875C>G (n.875C>G)
c.611+13C>G (n.611+13C>G)
c.319+2383C>G
11g.71435429G>TCA381700597DHCR7c.1374C>A (p.Asp458Glu)
c.1200C>A (p.Asp400Glu)
c.1425C>A (p.Asp475Glu)
c.1410C>A (p.Asp470Glu)
c.*137C>A (n.*137C>A)
n.1414C>A
c.789C>A (p.Asp263Glu)
c.1278C>A (p.Asp426Glu)
c.875C>A (n.875C>A)
c.611+13C>A (n.611+13C>A)
c.319+2383C>A
11g.71435430T>ACA381700600DHCR7c.1373A>T (p.Asp458Val)
c.1199A>T (p.Asp400Val)
c.1424A>T (p.Asp475Val)
c.1409A>T (p.Asp470Val)
c.*136A>T (n.*136A>T)
n.1413A>T
c.788A>T (p.Asp263Val)
c.1277A>T (p.Asp426Val)
c.874A>T (n.874A>T)
c.611+12A>T (n.611+12A>T)
c.319+2382A>T
11g.71435430T>CCA381700598DHCR7c.1373A>G (p.Asp458Gly)
c.1199A>G (p.Asp400Gly)
c.1424A>G (p.Asp475Gly)
c.1409A>G (p.Asp470Gly)
c.*136A>G (n.*136A>G)
n.1413A>G
c.788A>G (p.Asp263Gly)
c.1277A>G (p.Asp426Gly)
c.874A>G (n.874A>G)
c.611+12A>G (n.611+12A>G)
c.319+2382A>G
 ClinVar
11g.71435430T>GCA381700599DHCR7c.1373A>C (p.Asp458Ala)
c.1199A>C (p.Asp400Ala)
c.1424A>C (p.Asp475Ala)
c.1409A>C (p.Asp470Ala)
c.*136A>C (n.*136A>C)
n.1413A>C
c.788A>C (p.Asp263Ala)
c.1277A>C (p.Asp426Ala)
c.874A>C (n.874A>C)
c.611+12A>C (n.611+12A>C)
c.319+2382A>C
11g.71435431C>ACA381700601DHCR7c.1372G>T (p.Asp458Tyr)
c.1198G>T (p.Asp400Tyr)
c.1423G>T (p.Asp475Tyr)
c.1408G>T (p.Asp470Tyr)
c.*135G>T (n.*135G>T)
n.1412G>T
c.787G>T (p.Asp263Tyr)
c.1276G>T (p.Asp426Tyr)
c.873G>T (n.873G>T)
c.611+11G>T (n.611+11G>T)
c.319+2381G>T
 dbSNP gnomAD v3 gnomAD v4
11g.71435431C=CA1981486807DHCR7c.1372G= (p.Asp458=)
c.1198G= (p.Asp400=)
c.1423G= (p.Asp475=)
c.1408G= (p.Asp470=)
c.*135G= (n.*135G=)
n.1412G=
c.787G= (p.Asp263=)
c.1276G= (p.Asp426=)
c.873G= (n.873G=)
c.611+11G= (n.611+11G=)
c.319+2381G=
11g.71435431C>GCA381700603DHCR7c.1372G>C (p.Asp458His)
c.1198G>C (p.Asp400His)
c.1423G>C (p.Asp475His)
c.1408G>C (p.Asp470His)
c.*135G>C (n.*135G>C)
n.1412G>C
c.787G>C (p.Asp263His)
c.1276G>C (p.Asp426His)
c.873G>C (n.873G>C)
c.611+11G>C (n.611+11G>C)
c.319+2381G>C
 dbSNP
11g.71435431C>TCA381700602DHCR7c.1372G>A (p.Asp458Asn)
c.1198G>A (p.Asp400Asn)
c.1423G>A (p.Asp475Asn)
c.1408G>A (p.Asp470Asn)
c.*135G>A (n.*135G>A)
n.1412G>A
c.787G>A (p.Asp263Asn)
c.1276G>A (p.Asp426Asn)
c.873G>A (n.873G>A)
c.611+11G>A (n.611+11G>A)
c.319+2381G>A
 gnomAD v4
11g.71435432C>ACA475565816DHCR7c.1371G>T (p.Arg457=)
c.1197G>T (p.Arg399=)
c.1422G>T (p.Arg474=)
c.1407G>T (p.Arg469=)
c.*134G>T (n.*134G>T)
n.1411G>T
c.786G>T (p.Arg262=)
c.1275G>T (p.Arg425=)
c.872G>T (n.872G>T)
c.611+10G>T (n.611+10G>T)
c.319+2380G>T
11g.71435432C>GCA475565817DHCR7c.1371G>C (p.Arg457=)
c.1197G>C (p.Arg399=)
c.1422G>C (p.Arg474=)
c.1407G>C (p.Arg469=)
c.*134G>C (n.*134G>C)
n.1411G>C
c.786G>C (p.Arg262=)
c.1275G>C (p.Arg425=)
c.872G>C (n.872G>C)
c.611+10G>C (n.611+10G>C)
c.319+2380G>C
11g.71435432C>TCA475565819DHCR7c.1371G>A (p.Arg457=)
c.1197G>A (p.Arg399=)
c.1422G>A (p.Arg474=)
c.1407G>A (p.Arg469=)
c.*134G>A (n.*134G>A)
n.1411G>A
c.786G>A (p.Arg262=)
c.1275G>A (p.Arg425=)
c.872G>A (n.872G>A)
c.611+10G>A (n.611+10G>A)
c.319+2380G>A
 gnomAD v4 COSMIC COSMIC
11g.71435433C>ACA381700605DHCR7c.1370G>T (p.Arg457Leu)
c.1196G>T (p.Arg399Leu)
c.1421G>T (p.Arg474Leu)
c.1406G>T (p.Arg469Leu)
c.*133G>T (n.*133G>T)
n.1410G>T
c.785G>T (p.Arg262Leu)
c.1274G>T (p.Arg425Leu)
c.871G>T (n.871G>T)
c.611+9G>T (n.611+9G>T)
c.319+2379G>T
11g.71435433C=CA1981486808DHCR7c.1370G= (p.Arg457=)
c.1196G= (p.Arg399=)
c.1421G= (p.Arg474=)
c.1406G= (p.Arg469=)
c.*133G= (n.*133G=)
n.1410G=
c.785G= (p.Arg262=)
c.1274G= (p.Arg425=)
c.871G= (n.871G=)
c.611+9G= (n.611+9G=)
c.319+2379G=
11g.71435433C>GCA381700607DHCR7c.1370G>C (p.Arg457Pro)
c.1196G>C (p.Arg399Pro)
c.1421G>C (p.Arg474Pro)
c.1406G>C (p.Arg469Pro)
c.*133G>C (n.*133G>C)
n.1410G>C
c.785G>C (p.Arg262Pro)
c.1274G>C (p.Arg425Pro)
c.871G>C (n.871G>C)
c.611+9G>C (n.611+9G>C)
c.319+2379G>C
11g.71435433C>TCA10605135DHCR7c.1370G>A (p.Arg457Gln)
c.1196G>A (p.Arg399Gln)
c.1421G>A (p.Arg474Gln)
c.1406G>A (p.Arg469Gln)
c.*133G>A (n.*133G>A)
n.1410G>A
c.785G>A (p.Arg262Gln)
c.1274G>A (p.Arg425Gln)
c.871G>A (n.871G>A)
c.611+9G>A (n.611+9G>A)
c.319+2379G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435434G>ACA6162244DHCR7c.1369C>T (p.Arg457Trp)
c.1195C>T (p.Arg399Trp)
c.1420C>T (p.Arg474Trp)
c.1405C>T (p.Arg469Trp)
c.*132C>T (n.*132C>T)
n.1409C>T
c.784C>T (p.Arg262Trp)
c.1273C>T (p.Arg425Trp)
c.870C>T (n.870C>T)
c.611+8C>T (n.611+8C>T)
c.319+2378C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435434G>CCA381700610DHCR7c.1369C>G (p.Arg457Gly)
c.1195C>G (p.Arg399Gly)
c.1420C>G (p.Arg474Gly)
c.1405C>G (p.Arg469Gly)
c.*132C>G (n.*132C>G)
n.1409C>G
c.784C>G (p.Arg262Gly)
c.1273C>G (p.Arg425Gly)
c.870C>G (n.870C>G)
c.611+8C>G (n.611+8C>G)
c.319+2378C>G
11g.71435434G=CA1981486809DHCR7c.1369C= (p.Arg457=)
c.1195C= (p.Arg399=)
c.1420C= (p.Arg474=)
c.1405C= (p.Arg469=)
c.*132C= (n.*132C=)
n.1409C=
c.784C= (p.Arg262=)
c.1273C= (p.Arg425=)
c.870C= (n.870C=)
c.611+8C= (n.611+8C=)
c.319+2378C=
11g.71435434G>TCA224323768DHCR7c.1369C>A (p.Arg457=)
c.1195C>A (p.Arg399=)
c.1420C>A (p.Arg474=)
c.1405C>A (p.Arg469=)
c.*132C>A (n.*132C>A)
n.1409C>A
c.784C>A (p.Arg262=)
c.1273C>A (p.Arg425=)
c.870C>A (n.870C>A)
c.611+8C>A (n.611+8C>A)
c.319+2378C>A
 dbSNP gnomAD v4
11g.71435435G>ACA221653DHCR7c.1368C>T (p.Gly456=)
c.1194C>T (p.Gly398=)
c.1419C>T (p.Gly473=)
c.1404C>T (p.Gly468=)
c.*131C>T (n.*131C>T)
n.1408C>T
c.783C>T (p.Gly261=)
c.1272C>T (p.Gly424=)
c.869C>T (n.869C>T)
c.611+7C>T (n.611+7C>T)
c.319+2377C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435435G>CCA6162245DHCR7c.1368C>G (p.Gly456=)
c.1194C>G (p.Gly398=)
c.1419C>G (p.Gly473=)
c.1404C>G (p.Gly468=)
c.*131C>G (n.*131C>G)
n.1408C>G
c.783C>G (p.Gly261=)
c.1272C>G (p.Gly424=)
c.869C>G (n.869C>G)
c.611+7C>G (n.611+7C>G)
c.319+2377C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435435G=CA1981486810DHCR7c.1368C= (p.Gly456=)
c.1194C= (p.Gly398=)
c.1419C= (p.Gly473=)
c.1404C= (p.Gly468=)
c.*131C= (n.*131C=)
n.1408C=
c.783C= (p.Gly261=)
c.1272C= (p.Gly424=)
c.869C= (n.869C=)
c.611+7C= (n.611+7C=)
c.319+2377C=
11g.71435435G>TCA475565845DHCR7c.1368C>A (p.Gly456=)
c.1194C>A (p.Gly398=)
c.1419C>A (p.Gly473=)
c.1404C>A (p.Gly468=)
c.*131C>A (n.*131C>A)
n.1408C>A
c.783C>A (p.Gly261=)
c.1272C>A (p.Gly424=)
c.869C>A (n.869C>A)
c.611+7C>A (n.611+7C>A)
c.319+2377C>A
 gnomAD v4
11g.71435436C>ACA6162246DHCR7c.1367G>T (p.Gly456Val)
c.1193G>T (p.Gly398Val)
c.1418G>T (p.Gly473Val)
c.1403G>T (p.Gly468Val)
c.*130G>T (n.*130G>T)
n.1407G>T
c.782G>T (p.Gly261Val)
c.1271G>T (p.Gly424Val)
c.868G>T (n.868G>T)
c.611+6G>T (n.611+6G>T)
c.319+2376G>T
 dbSNP ExAC gnomAD v2
11g.71435436C=CA1981486811DHCR7c.1367G= (p.Gly456=)
c.1193G= (p.Gly398=)
c.1418G= (p.Gly473=)
c.1403G= (p.Gly468=)
c.*130G= (n.*130G=)
n.1407G=
c.782G= (p.Gly261=)
c.1271G= (p.Gly424=)
c.868G= (n.868G=)
c.611+6G= (n.611+6G=)
c.319+2376G=
11g.71435436C>GCA381700615DHCR7c.1367G>C (p.Gly456Ala)
c.1193G>C (p.Gly398Ala)
c.1418G>C (p.Gly473Ala)
c.1403G>C (p.Gly468Ala)
c.*130G>C (n.*130G>C)
n.1407G>C
c.782G>C (p.Gly261Ala)
c.1271G>C (p.Gly424Ala)
c.868G>C (n.868G>C)
c.611+6G>C (n.611+6G>C)
c.319+2376G>C
11g.71435436C>TCA381700617DHCR7c.1367G>A (p.Gly456Asp)
c.1193G>A (p.Gly398Asp)
c.1418G>A (p.Gly473Asp)
c.1403G>A (p.Gly468Asp)
c.*130G>A (n.*130G>A)
n.1407G>A
c.782G>A (p.Gly261Asp)
c.1271G>A (p.Gly424Asp)
c.868G>A (n.868G>A)
c.611+6G>A (n.611+6G>A)
c.319+2376G>A
11g.71435437C>ACA381700620DHCR7c.1366G>T (p.Gly456Cys)
c.1192G>T (p.Gly398Cys)
c.1417G>T (p.Gly473Cys)
c.1402G>T (p.Gly468Cys)
c.*129G>T (n.*129G>T)
n.1406G>T
c.781G>T (p.Gly261Cys)
c.1270G>T (p.Gly424Cys)
c.867G>T (n.867G>T)
c.611+5G>T (n.611+5G>T)
c.319+2375G>T
11g.71435437C=CA1981486812DHCR7c.1366G= (p.Gly456=)
c.1192G= (p.Gly398=)
c.1417G= (p.Gly473=)
c.1402G= (p.Gly468=)
c.*129G= (n.*129G=)
n.1406G=
c.781G= (p.Gly261=)
c.1270G= (p.Gly424=)
c.867G= (n.867G=)
c.611+5G= (n.611+5G=)
c.319+2375G=
11g.71435437C>GCA381700619DHCR7c.1366G>C (p.Gly456Arg)
c.1192G>C (p.Gly398Arg)
c.1417G>C (p.Gly473Arg)
c.1402G>C (p.Gly468Arg)
c.*129G>C (n.*129G>C)
n.1406G>C
c.781G>C (p.Gly261Arg)
c.1270G>C (p.Gly424Arg)
c.867G>C (n.867G>C)
c.611+5G>C (n.611+5G>C)
c.319+2375G>C
11g.71435437C>TCA6162247DHCR7c.1366G>A (p.Gly456Ser)
c.1192G>A (p.Gly398Ser)
c.1417G>A (p.Gly473Ser)
c.1402G>A (p.Gly468Ser)
c.*129G>A (n.*129G>A)
n.1406G>A
c.781G>A (p.Gly261Ser)
c.1270G>A (p.Gly424Ser)
c.867G>A (n.867G>A)
c.611+5G>A (n.611+5G>A)
c.319+2375G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435438G>ACA6162248DHCR7c.1365C>T (p.Tyr455=)
c.1191C>T (p.Tyr397=)
c.1416C>T (p.Tyr472=)
c.1401C>T (p.Tyr467=)
c.*128C>T (n.*128C>T)
n.1405C>T
c.780C>T (p.Tyr260=)
c.1269C>T (p.Tyr423=)
c.866C>T (n.866C>T)
c.611+4C>T (n.611+4C>T)
c.319+2374C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435438G>CCA381700621DHCR7c.1365C>G (p.Tyr455Ter)
c.1191C>G (p.Tyr397Ter)
c.1416C>G (p.Tyr472Ter)
c.1401C>G (p.Tyr467Ter)
c.*128C>G (n.*128C>G)
n.1405C>G
c.780C>G (p.Tyr260Ter)
c.1269C>G (p.Tyr423Ter)
c.866C>G (n.866C>G)
c.611+4C>G (n.611+4C>G)
c.319+2374C>G
11g.71435438G=CA1981486813DHCR7c.1365C= (p.Tyr455=)
c.1191C= (p.Tyr397=)
c.1416C= (p.Tyr472=)
c.1401C= (p.Tyr467=)
c.*128C= (n.*128C=)
n.1405C=
c.780C= (p.Tyr260=)
c.1269C= (p.Tyr423=)
c.866C= (n.866C=)
c.611+4C= (n.611+4C=)
c.319+2374C=
11g.71435438G>TCA381700622DHCR7c.1365C>A (p.Tyr455Ter)
c.1191C>A (p.Tyr397Ter)
c.1416C>A (p.Tyr472Ter)
c.1401C>A (p.Tyr467Ter)
c.*128C>A (n.*128C>A)
n.1405C>A
c.780C>A (p.Tyr260Ter)
c.1269C>A (p.Tyr423Ter)
c.866C>A (n.866C>A)
c.611+4C>A (n.611+4C>A)
c.319+2374C>A
 ClinVar
11g.71435439T>ACA381700623DHCR7c.1364A>T (p.Tyr455Phe)
c.1190A>T (p.Tyr397Phe)
c.1415A>T (p.Tyr472Phe)
c.1400A>T (p.Tyr467Phe)
c.*127A>T (n.*127A>T)
n.1404A>T
c.779A>T (p.Tyr260Phe)
c.1268A>T (p.Tyr423Phe)
c.865A>T (n.865A>T)
c.611+3A>T (n.611+3A>T)
c.319+2373A>T
 ClinVar dbSNP
11g.71435439T>CCA381700624DHCR7c.1364A>G (p.Tyr455Cys)
c.1190A>G (p.Tyr397Cys)
c.1415A>G (p.Tyr472Cys)
c.1400A>G (p.Tyr467Cys)
c.*127A>G (n.*127A>G)
n.1404A>G
c.779A>G (p.Tyr260Cys)
c.1268A>G (p.Tyr423Cys)
c.865A>G (n.865A>G)
c.611+3A>G (n.611+3A>G)
c.319+2373A>G
11g.71435439T>GCA381700626DHCR7c.1364A>C (p.Tyr455Ser)
c.1190A>C (p.Tyr397Ser)
c.1415A>C (p.Tyr472Ser)
c.1400A>C (p.Tyr467Ser)
c.*127A>C (n.*127A>C)
n.1404A>C
c.779A>C (p.Tyr260Ser)
c.1268A>C (p.Tyr423Ser)
c.865A>C (n.865A>C)
c.611+3A>C (n.611+3A>C)
c.319+2373A>C
11g.71435439T=CA1981486814DHCR7c.1364A= (p.Tyr455=)
c.1190A= (p.Tyr397=)
c.1415A= (p.Tyr472=)
c.1400A= (p.Tyr467=)
c.*127A= (n.*127A=)
n.1404A=
c.779A= (p.Tyr260=)
c.1268A= (p.Tyr423=)
c.865A= (n.865A=)
c.611+3A= (n.611+3A=)
c.319+2373A=
11g.71435440A>CCA381700627DHCR7c.1363T>G (p.Tyr455Asp)
c.1189T>G (p.Tyr397Asp)
c.1414T>G (p.Tyr472Asp)
c.1399T>G (p.Tyr467Asp)
c.*126T>G (n.*126T>G)
n.1403T>G
c.778T>G (p.Tyr260Asp)
c.1267T>G (p.Tyr423Asp)
c.864T>G (n.864T>G)
c.611+2T>G (n.611+2T>G)
c.319+2372T>G
11g.71435440A>GCA381700628DHCR7c.1363T>C (p.Tyr455His)
c.1189T>C (p.Tyr397His)
c.1414T>C (p.Tyr472His)
c.1399T>C (p.Tyr467His)
c.*126T>C (n.*126T>C)
n.1403T>C
c.778T>C (p.Tyr260His)
c.1267T>C (p.Tyr423His)
c.864T>C (n.864T>C)
c.611+2T>C (n.611+2T>C)
c.319+2372T>C
11g.71435440A>TCA381700631DHCR7c.1363T>A (p.Tyr455Asn)
c.1189T>A (p.Tyr397Asn)
c.1414T>A (p.Tyr472Asn)
c.1399T>A (p.Tyr467Asn)
c.*126T>A (n.*126T>A)
n.1403T>A
c.778T>A (p.Tyr260Asn)
c.1267T>A (p.Tyr423Asn)
c.864T>A (n.864T>A)
c.611+2T>A (n.611+2T>A)
c.319+2372T>A
11g.71435441C>ACA381700633DHCR7c.1362G>T (p.Lys454Asn)
c.1188G>T (p.Lys396Asn)
c.1413G>T (p.Lys471Asn)
c.1398G>T (p.Lys466Asn)
c.*125G>T (n.*125G>T)
n.1402G>T
c.777G>T (p.Lys259Asn)
c.1266G>T (p.Lys422Asn)
c.863G>T (n.863G>T)
c.611+1G>T (n.611+1G>T)
c.319+2371G>T
11g.71435441C=CA1981486815DHCR7c.1362G= (p.Lys454=)
c.1188G= (p.Lys396=)
c.1413G= (p.Lys471=)
c.1398G= (p.Lys466=)
c.*125G= (n.*125G=)
n.1402G=
c.777G= (p.Lys259=)
c.1266G= (p.Lys422=)
c.863G= (n.863G=)
c.611+1G= (n.611+1G=)
c.319+2371G=
11g.71435441C>GCA381700635DHCR7c.1362G>C (p.Lys454Asn)
c.1188G>C (p.Lys396Asn)
c.1413G>C (p.Lys471Asn)
c.1398G>C (p.Lys466Asn)
c.*125G>C (n.*125G>C)
n.1402G>C
c.777G>C (p.Lys259Asn)
c.1266G>C (p.Lys422Asn)
c.863G>C (n.863G>C)
c.611+1G>C (n.611+1G>C)
c.319+2371G>C
11g.71435441C>TCA248056DHCR7c.1362G>A (p.Lys454=)
c.1188G>A (p.Lys396=)
c.1413G>A (p.Lys471=)
c.1398G>A (p.Lys466=)
c.*125G>A (n.*125G>A)
n.1402G>A
c.777G>A (p.Lys259=)
c.1266G>A (p.Lys422=)
c.863G>A (n.863G>A)
c.611+1G>A (n.611+1G>A)
c.319+2371G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435442T>ACA381700642DHCR7c.1361A>T (p.Lys454Met)
c.1187A>T (p.Lys396Met)
c.1412A>T (p.Lys471Met)
c.1397A>T (p.Lys466Met)
c.*124A>T (n.*124A>T)
n.1401A>T
c.776A>T (p.Lys259Met)
c.1265A>T (p.Lys422Met)
c.862A>T (n.862A>T)
c.611A>T (p.Lys204Met)
c.319+2370A>T
11g.71435442T>CCA381700640DHCR7c.1361A>G (p.Lys454Arg)
c.1187A>G (p.Lys396Arg)
c.1412A>G (p.Lys471Arg)
c.1397A>G (p.Lys466Arg)
c.*124A>G (n.*124A>G)
n.1401A>G
c.776A>G (p.Lys259Arg)
c.1265A>G (p.Lys422Arg)
c.862A>G (n.862A>G)
c.611A>G (p.Lys204Arg)
c.319+2370A>G
 dbSNP
11g.71435442T>GCA381700638DHCR7c.1361A>C (p.Lys454Thr)
c.1187A>C (p.Lys396Thr)
c.1412A>C (p.Lys471Thr)
c.1397A>C (p.Lys466Thr)
c.*124A>C (n.*124A>C)
n.1401A>C
c.776A>C (p.Lys259Thr)
c.1265A>C (p.Lys422Thr)
c.862A>C (n.862A>C)
c.611A>C (p.Lys204Thr)
c.319+2370A>C
 dbSNP
11g.71435442T=CA1981486816DHCR7c.1361A= (p.Lys454=)
c.1187A= (p.Lys396=)
c.1412A= (p.Lys471=)
c.1397A= (p.Lys466=)
c.*124A= (n.*124A=)
n.1401A=
c.776A= (p.Lys259=)
c.1265A= (p.Lys422=)
c.862A= (n.862A=)
c.611A= (p.Lys204=)
c.319+2370A=
11g.71435443T>ACA381700648DHCR7c.1360A>T (p.Lys454Ter)
c.1186A>T (p.Lys396Ter)
c.1411A>T (p.Lys471Ter)
c.1396A>T (p.Lys466Ter)
c.*123A>T (n.*123A>T)
n.1400A>T
c.775A>T (p.Lys259Ter)
c.1264A>T (p.Lys422Ter)
c.861A>T (n.861A>T)
c.610A>T (p.Lys204Ter)
c.319+2369A>T
 ClinVar dbSNP
11g.71435443T>CCA381700644DHCR7c.1360A>G (p.Lys454Glu)
c.1186A>G (p.Lys396Glu)
c.1411A>G (p.Lys471Glu)
c.1396A>G (p.Lys466Glu)
c.*123A>G (n.*123A>G)
n.1400A>G
c.775A>G (p.Lys259Glu)
c.1264A>G (p.Lys422Glu)
c.861A>G (n.861A>G)
c.610A>G (p.Lys204Glu)
c.319+2369A>G
11g.71435443T>GCA381700646DHCR7c.1360A>C (p.Lys454Gln)
c.1186A>C (p.Lys396Gln)
c.1411A>C (p.Lys471Gln)
c.1396A>C (p.Lys466Gln)
c.*123A>C (n.*123A>C)
n.1400A>C
c.775A>C (p.Lys259Gln)
c.1264A>C (p.Lys422Gln)
c.861A>C (n.861A>C)
c.610A>C (p.Lys204Gln)
c.319+2369A>C
11g.71435444G>ACA475565883DHCR7c.1359C>T (p.Ser453=)
c.1185C>T (p.Ser395=)
c.1410C>T (p.Ser470=)
c.1395C>T (p.Ser465=)
c.*122C>T (n.*122C>T)
n.1399C>T
c.774C>T (p.Ser258=)
c.1263C>T (p.Ser421=)
c.860C>T (n.860C>T)
c.609C>T (p.Ser203=)
c.319+2368C>T
 ClinVar
11g.71435444G>CCA381700650DHCR7c.1359C>G (p.Ser453Arg)
c.1185C>G (p.Ser395Arg)
c.1410C>G (p.Ser470Arg)
c.1395C>G (p.Ser465Arg)
c.*122C>G (n.*122C>G)
n.1399C>G
c.774C>G (p.Ser258Arg)
c.1263C>G (p.Ser421Arg)
c.860C>G (n.860C>G)
c.609C>G (p.Ser203Arg)
c.319+2368C>G
11g.71435444G>TCA381700652DHCR7c.1359C>A (p.Ser453Arg)
c.1185C>A (p.Ser395Arg)
c.1410C>A (p.Ser470Arg)
c.1395C>A (p.Ser465Arg)
c.*122C>A (n.*122C>A)
n.1399C>A
c.774C>A (p.Ser258Arg)
c.1263C>A (p.Ser421Arg)
c.860C>A (n.860C>A)
c.609C>A (p.Ser203Arg)
c.319+2368C>A
11g.71435445C>ACA381700654DHCR7c.1358G>T (p.Ser453Ile)
c.1184G>T (p.Ser395Ile)
c.1409G>T (p.Ser470Ile)
c.1394G>T (p.Ser465Ile)
c.*121G>T (n.*121G>T)
n.1398G>T
c.773G>T (p.Ser258Ile)
c.1262G>T (p.Ser421Ile)
c.859G>T (n.859G>T)
c.608G>T (p.Ser203Ile)
c.319+2367G>T
11g.71435445C=CA1981486817DHCR7c.1358G= (p.Ser453=)
c.1184G= (p.Ser395=)
c.1409G= (p.Ser470=)
c.1394G= (p.Ser465=)
c.*121G= (n.*121G=)
n.1398G=
c.773G= (p.Ser258=)
c.1262G= (p.Ser421=)
c.859G= (n.859G=)
c.608G= (p.Ser203=)
c.319+2367G=
11g.71435445C>GCA6162249DHCR7c.1358G>C (p.Ser453Thr)
c.1184G>C (p.Ser395Thr)
c.1409G>C (p.Ser470Thr)
c.1394G>C (p.Ser465Thr)
c.*121G>C (n.*121G>C)
n.1398G>C
c.773G>C (p.Ser258Thr)
c.1262G>C (p.Ser421Thr)
c.859G>C (n.859G>C)
c.608G>C (p.Ser203Thr)
c.319+2367G>C
 dbSNP ExAC gnomAD v2
11g.71435445C>TCA381700657DHCR7c.1358G>A (p.Ser453Asn)
c.1184G>A (p.Ser395Asn)
c.1409G>A (p.Ser470Asn)
c.1394G>A (p.Ser465Asn)
c.*121G>A (n.*121G>A)
n.1398G>A
c.773G>A (p.Ser258Asn)
c.1262G>A (p.Ser421Asn)
c.859G>A (n.859G>A)
c.608G>A (p.Ser203Asn)
c.319+2367G>A
11g.71435446T>ACA381700658DHCR7c.1357A>T (p.Ser453Cys)
c.1183A>T (p.Ser395Cys)
c.1408A>T (p.Ser470Cys)
c.1393A>T (p.Ser465Cys)
c.*120A>T (n.*120A>T)
n.1397A>T
c.772A>T (p.Ser258Cys)
c.1261A>T (p.Ser421Cys)
c.858A>T (n.858A>T)
c.607A>T (p.Ser203Cys)
c.319+2366A>T
11g.71435446T>CCA381700660DHCR7c.1357A>G (p.Ser453Gly)
c.1183A>G (p.Ser395Gly)
c.1408A>G (p.Ser470Gly)
c.1393A>G (p.Ser465Gly)
c.*120A>G (n.*120A>G)
n.1397A>G
c.772A>G (p.Ser258Gly)
c.1261A>G (p.Ser421Gly)
c.858A>G (n.858A>G)
c.607A>G (p.Ser203Gly)
c.319+2366A>G
 dbSNP gnomAD v3 gnomAD v4
11g.71435446T>GCA381700661DHCR7c.1357A>C (p.Ser453Arg)
c.1183A>C (p.Ser395Arg)
c.1408A>C (p.Ser470Arg)
c.1393A>C (p.Ser465Arg)
c.*120A>C (n.*120A>C)
n.1397A>C
c.772A>C (p.Ser258Arg)
c.1261A>C (p.Ser421Arg)
c.858A>C (n.858A>C)
c.607A>C (p.Ser203Arg)
c.319+2366A>C
11g.71435446T=CA1981486818DHCR7c.1357A= (p.Ser453=)
c.1183A= (p.Ser395=)
c.1408A= (p.Ser470=)
c.1393A= (p.Ser465=)
c.*120A= (n.*120A=)
n.1397A=
c.772A= (p.Ser258=)
c.1261A= (p.Ser421=)
c.858A= (n.858A=)
c.607A= (p.Ser203=)
c.319+2366A=
11g.71435447G>ACA475565891DHCR7c.1356C>T (p.Ala452=)
c.1182C>T (p.Ala394=)
c.1407C>T (p.Ala469=)
c.1392C>T (p.Ala464=)
c.*119C>T (n.*119C>T)
n.1396C>T
c.771C>T (p.Ala257=)
c.1260C>T (p.Ala420=)
c.857C>T (n.857C>T)
c.606C>T (p.Ala202=)
c.319+2365C>T
 ClinVar
11g.71435447G>CCA475565893DHCR7c.1356C>G (p.Ala452=)
c.1182C>G (p.Ala394=)
c.1407C>G (p.Ala469=)
c.1392C>G (p.Ala464=)
c.*119C>G (n.*119C>G)
n.1396C>G
c.771C>G (p.Ala257=)
c.1260C>G (p.Ala420=)
c.857C>G (n.857C>G)
c.606C>G (p.Ala202=)
c.319+2365C>G
11g.71435447G>TCA475565895DHCR7c.1356C>A (p.Ala452=)
c.1182C>A (p.Ala394=)
c.1407C>A (p.Ala469=)
c.1392C>A (p.Ala464=)
c.*119C>A (n.*119C>A)
n.1396C>A
c.771C>A (p.Ala257=)
c.1260C>A (p.Ala420=)
c.857C>A (n.857C>A)
c.606C>A (p.Ala202=)
c.319+2365C>A
 gnomAD v4
11g.71435448G>ACA381700664DHCR7c.1355C>T (p.Ala452Val)
c.1181C>T (p.Ala394Val)
c.1406C>T (p.Ala469Val)
c.1391C>T (p.Ala464Val)
c.*118C>T (n.*118C>T)
n.1395C>T
c.770C>T (p.Ala257Val)
c.1259C>T (p.Ala420Val)
c.856C>T (n.856C>T)
c.605C>T (p.Ala202Val)
c.319+2364C>T
11g.71435448G>CCA381700666DHCR7c.1355C>G (p.Ala452Gly)
c.1181C>G (p.Ala394Gly)
c.1406C>G (p.Ala469Gly)
c.1391C>G (p.Ala464Gly)
c.*118C>G (n.*118C>G)
n.1395C>G
c.770C>G (p.Ala257Gly)
c.1259C>G (p.Ala420Gly)
c.856C>G (n.856C>G)
c.605C>G (p.Ala202Gly)
c.319+2364C>G
11g.71435448G>TCA381700668DHCR7c.1355C>A (p.Ala452Asp)
c.1181C>A (p.Ala394Asp)
c.1406C>A (p.Ala469Asp)
c.1391C>A (p.Ala464Asp)
c.*118C>A (n.*118C>A)
n.1395C>A
c.770C>A (p.Ala257Asp)
c.1259C>A (p.Ala420Asp)
c.856C>A (n.856C>A)
c.605C>A (p.Ala202Asp)
c.319+2364C>A
 gnomAD v4
11g.71435449C>ACA381700671DHCR7c.1354G>T (p.Ala452Ser)
c.1180G>T (p.Ala394Ser)
c.1405G>T (p.Ala469Ser)
c.1390G>T (p.Ala464Ser)
c.*117G>T (n.*117G>T)
n.1394G>T
c.769G>T (p.Ala257Ser)
c.1258G>T (p.Ala420Ser)
c.855G>T (n.855G>T)
c.604G>T (p.Ala202Ser)
c.319+2363G>T
 gnomAD v4
11g.71435449C=CA1981486819DHCR7c.1354G= (p.Ala452=)
c.1180G= (p.Ala394=)
c.1405G= (p.Ala469=)
c.1390G= (p.Ala464=)
c.*117G= (n.*117G=)
n.1394G=
c.769G= (p.Ala257=)
c.1258G= (p.Ala420=)
c.855G= (n.855G=)
c.604G= (p.Ala202=)
c.319+2363G=
11g.71435449C>GCA381700669DHCR7c.1354G>C (p.Ala452Pro)
c.1180G>C (p.Ala394Pro)
c.1405G>C (p.Ala469Pro)
c.1390G>C (p.Ala464Pro)
c.*117G>C (n.*117G>C)
n.1394G>C
c.769G>C (p.Ala257Pro)
c.1258G>C (p.Ala420Pro)
c.855G>C (n.855G>C)
c.604G>C (p.Ala202Pro)
c.319+2363G>C
11g.71435449C>TCA6162250DHCR7c.1354G>A (p.Ala452Thr)
c.1180G>A (p.Ala394Thr)
c.1405G>A (p.Ala469Thr)
c.1390G>A (p.Ala464Thr)
c.*117G>A (n.*117G>A)
n.1394G>A
c.769G>A (p.Ala257Thr)
c.1258G>A (p.Ala420Thr)
c.855G>A (n.855G>A)
c.604G>A (p.Ala202Thr)
c.319+2363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435450G>ACA224323876DHCR7c.1353C>T (p.Cys451=)
c.1179C>T (p.Cys393=)
c.1404C>T (p.Cys468=)
c.1389C>T (p.Cys463=)
c.*116C>T (n.*116C>T)
n.1393C>T
c.768C>T (p.Cys256=)
c.1257C>T (p.Cys419=)
c.854C>T (n.854C>T)
c.603C>T (p.Cys201=)
c.319+2362C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435450G>CCA381700673DHCR7c.1353C>G (p.Cys451Trp)
c.1179C>G (p.Cys393Trp)
c.1404C>G (p.Cys468Trp)
c.1389C>G (p.Cys463Trp)
c.*116C>G (n.*116C>G)
n.1393C>G
c.768C>G (p.Cys256Trp)
c.1257C>G (p.Cys419Trp)
c.854C>G (n.854C>G)
c.603C>G (p.Cys201Trp)
c.319+2362C>G
11g.71435450G=CA1981486820DHCR7c.1353C= (p.Cys451=)
c.1179C= (p.Cys393=)
c.1404C= (p.Cys468=)
c.1389C= (p.Cys463=)
c.*116C= (n.*116C=)
n.1393C=
c.768C= (p.Cys256=)
c.1257C= (p.Cys419=)
c.854C= (n.854C=)
c.603C= (p.Cys201=)
c.319+2362C=
11g.71435450G>TCA381700675DHCR7c.1353C>A (p.Cys451Ter)
c.1179C>A (p.Cys393Ter)
c.1404C>A (p.Cys468Ter)
c.1389C>A (p.Cys463Ter)
c.*116C>A (n.*116C>A)
n.1393C>A
c.768C>A (p.Cys256Ter)
c.1257C>A (p.Cys419Ter)
c.854C>A (n.854C>A)
c.603C>A (p.Cys201Ter)
c.319+2362C>A
11g.71435451C>ACA381700677DHCR7c.1352G>T (p.Cys451Phe)
c.1178G>T (p.Cys393Phe)
c.1403G>T (p.Cys468Phe)
c.1388G>T (p.Cys463Phe)
c.*115G>T (n.*115G>T)
n.1392G>T
c.767G>T (p.Cys256Phe)
c.1256G>T (p.Cys419Phe)
c.853G>T (n.853G>T)
c.602G>T (p.Cys201Phe)
c.319+2361G>T
 ClinVar
11g.71435451C=CA1981486821DHCR7c.1352G= (p.Cys451=)
c.1178G= (p.Cys393=)
c.1403G= (p.Cys468=)
c.1388G= (p.Cys463=)
c.*115G= (n.*115G=)
n.1392G=
c.767G= (p.Cys256=)
c.1256G= (p.Cys419=)
c.853G= (n.853G=)
c.602G= (p.Cys201=)
c.319+2361G=
11g.71435451C>GCA381700679DHCR7c.1352G>C (p.Cys451Ser)
c.1178G>C (p.Cys393Ser)
c.1403G>C (p.Cys468Ser)
c.1388G>C (p.Cys463Ser)
c.*115G>C (n.*115G>C)
n.1392G>C
c.767G>C (p.Cys256Ser)
c.1256G>C (p.Cys419Ser)
c.853G>C (n.853G>C)
c.602G>C (p.Cys201Ser)
c.319+2361G>C
11g.71435451C>TCA381700680DHCR7c.1352G>A (p.Cys451Tyr)
c.1178G>A (p.Cys393Tyr)
c.1403G>A (p.Cys468Tyr)
c.1388G>A (p.Cys463Tyr)
c.*115G>A (n.*115G>A)
n.1392G>A
c.767G>A (p.Cys256Tyr)
c.1256G>A (p.Cys419Tyr)
c.853G>A (n.853G>A)
c.602G>A (p.Cys201Tyr)
c.319+2361G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435452A=CA1981486822DHCR7c.1351T= (p.Cys451=)
c.1177T= (p.Cys393=)
c.1402T= (p.Cys468=)
c.1387T= (p.Cys463=)
c.*114T= (n.*114T=)
n.1391T=
c.766T= (p.Cys256=)
c.1255T= (p.Cys419=)
c.852T= (n.852T=)
c.601T= (p.Cys201=)
c.319+2360T=
11g.71435452A>CCA381700682DHCR7c.1351T>G (p.Cys451Gly)
c.1177T>G (p.Cys393Gly)
c.1402T>G (p.Cys468Gly)
c.1387T>G (p.Cys463Gly)
c.*114T>G (n.*114T>G)
n.1391T>G
c.766T>G (p.Cys256Gly)
c.1255T>G (p.Cys419Gly)
c.852T>G (n.852T>G)
c.601T>G (p.Cys201Gly)
c.319+2360T>G
11g.71435452A>GCA6162251DHCR7c.1351T>C (p.Cys451Arg)
c.1177T>C (p.Cys393Arg)
c.1402T>C (p.Cys468Arg)
c.1387T>C (p.Cys463Arg)
c.*114T>C (n.*114T>C)
n.1391T>C
c.766T>C (p.Cys256Arg)
c.1255T>C (p.Cys419Arg)
c.852T>C (n.852T>C)
c.601T>C (p.Cys201Arg)
c.319+2360T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435452A>TCA381700685DHCR7c.1351T>A (p.Cys451Ser)
c.1177T>A (p.Cys393Ser)
c.1402T>A (p.Cys468Ser)
c.1387T>A (p.Cys463Ser)
c.*114T>A (n.*114T>A)
n.1391T>A
c.766T>A (p.Cys256Ser)
c.1255T>A (p.Cys419Ser)
c.852T>A (n.852T>A)
c.601T>A (p.Cys201Ser)
c.319+2360T>A
11g.71435453G>ACA475565919DHCR7c.1350C>T (p.Arg450=)
c.1176C>T (p.Arg392=)
c.1401C>T (p.Arg467=)
c.1386C>T (p.Arg462=)
c.*113C>T (n.*113C>T)
n.1390C>T
c.765C>T (p.Arg255=)
c.1254C>T (p.Arg418=)
c.851C>T (n.851C>T)
c.600C>T (p.Arg200=)
c.319+2359C>T
11g.71435453G>CCA6162252DHCR7c.1350C>G (p.Arg450=)
c.1176C>G (p.Arg392=)
c.1401C>G (p.Arg467=)
c.1386C>G (p.Arg462=)
c.*113C>G (n.*113C>G)
n.1390C>G
c.765C>G (p.Arg255=)
c.1254C>G (p.Arg418=)
c.851C>G (n.851C>G)
c.600C>G (p.Arg200=)
c.319+2359C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435453G=CA1981486823DHCR7c.1350C= (p.Arg450=)
c.1176C= (p.Arg392=)
c.1401C= (p.Arg467=)
c.1386C= (p.Arg462=)
c.*113C= (n.*113C=)
n.1390C=
c.765C= (p.Arg255=)
c.1254C= (p.Arg418=)
c.851C= (n.851C=)
c.600C= (p.Arg200=)
c.319+2359C=
11g.71435453G>TCA475565923DHCR7c.1350C>A (p.Arg450=)
c.1176C>A (p.Arg392=)
c.1401C>A (p.Arg467=)
c.1386C>A (p.Arg462=)
c.*113C>A (n.*113C>A)
n.1390C>A
c.765C>A (p.Arg255=)
c.1254C>A (p.Arg418=)
c.851C>A (n.851C>A)
c.600C>A (p.Arg200=)
c.319+2359C>A
11g.71435453_71435454delinsCACA915948241DHCR7c.1349_1350delinsTG (p.Arg450Leu)
c.1175_1176delinsTG (p.Arg392Leu)
c.1400_1401delinsTG (p.Arg467Leu)
c.1385_1386delinsTG (p.Arg462Leu)
c.*112_*113delinsTG (n.*112_*113delinsTG)
n.1389_1390delinsTG
c.764_765delinsTG (p.Arg255Leu)
c.1253_1254delinsTG (p.Arg418Leu)
c.850_851delinsTG (n.850_851delinsTG)
c.599_600delinsTG (p.Arg200Leu)
c.319+2358_319+2359delinsTG
 ClinVar dbSNP
11g.71435453_71435454delinsGCCA1981486824DHCR7c.1349_1350delinsGC (p.Arg450=)
c.1175_1176delinsGC (p.Arg392=)
c.1400_1401delinsGC (p.Arg467=)
c.1385_1386delinsGC (p.Arg462=)
c.*112_*113delinsGC (n.*112_*113delinsGC)
n.1389_1390delinsGC
c.764_765delinsGC (p.Arg255=)
c.1253_1254delinsGC (p.Arg418=)
c.850_851delinsGC (n.850_851delinsGC)
c.599_600delinsGC (p.Arg200=)
c.319+2358_319+2359delinsGC
11g.71435454C>ACA6162253DHCR7c.1349G>T (p.Arg450Leu)
c.1175G>T (p.Arg392Leu)
c.1400G>T (p.Arg467Leu)
c.1385G>T (p.Arg462Leu)
c.*112G>T (n.*112G>T)
n.1389G>T
c.764G>T (p.Arg255Leu)
c.1253G>T (p.Arg418Leu)
c.850G>T (n.850G>T)
c.599G>T (p.Arg200Leu)
c.319+2358G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435454C=CA1981486825DHCR7c.1349G= (p.Arg450=)
c.1175G= (p.Arg392=)
c.1400G= (p.Arg467=)
c.1385G= (p.Arg462=)
c.*112G= (n.*112G=)
n.1389G=
c.764G= (p.Arg255=)
c.1253G= (p.Arg418=)
c.850G= (n.850G=)
c.599G= (p.Arg200=)
c.319+2358G=
11g.71435454C>GCA381700689DHCR7c.1349G>C (p.Arg450Pro)
c.1175G>C (p.Arg392Pro)
c.1400G>C (p.Arg467Pro)
c.1385G>C (p.Arg462Pro)
c.*112G>C (n.*112G>C)
n.1389G>C
c.764G>C (p.Arg255Pro)
c.1253G>C (p.Arg418Pro)
c.850G>C (n.850G>C)
c.599G>C (p.Arg200Pro)
c.319+2358G>C
 gnomAD v4
11g.71435454C>TCA224323879DHCR7c.1349G>A (p.Arg450His)
c.1175G>A (p.Arg392His)
c.1400G>A (p.Arg467His)
c.1385G>A (p.Arg462His)
c.*112G>A (n.*112G>A)
n.1389G>A
c.764G>A (p.Arg255His)
c.1253G>A (p.Arg418His)
c.850G>A (n.850G>A)
c.599G>A (p.Arg200His)
c.319+2358G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435454_71435455delinsCGCA1981486826DHCR7c.1348_1349delinsCG (p.Arg450=)
c.1174_1175delinsCG (p.Arg392=)
c.1399_1400delinsCG (p.Arg467=)
c.1384_1385delinsCG (p.Arg462=)
c.*111_*112delinsCG (n.*111_*112delinsCG)
n.1388_1389delinsCG
c.763_764delinsCG (p.Arg255=)
c.1252_1253delinsCG (p.Arg418=)
c.849_850delinsCG (n.849_850delinsCG)
c.598_599delinsCG (p.Arg200=)
c.319+2357_319+2358delinsCG
11g.71435455G>ACA6162254DHCR7c.1348C>T (p.Arg450Cys)
c.1174C>T (p.Arg392Cys)
c.1399C>T (p.Arg467Cys)
c.1384C>T (p.Arg462Cys)
c.*111C>T (n.*111C>T)
n.1388C>T
c.763C>T (p.Arg255Cys)
c.1252C>T (p.Arg418Cys)
c.849C>T (n.849C>T)
c.598C>T (p.Arg200Cys)
c.319+2357C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435455G>CCA381700692DHCR7c.1348C>G (p.Arg450Gly)
c.1174C>G (p.Arg392Gly)
c.1399C>G (p.Arg467Gly)
c.1384C>G (p.Arg462Gly)
c.*111C>G (n.*111C>G)
n.1388C>G
c.763C>G (p.Arg255Gly)
c.1252C>G (p.Arg418Gly)
c.849C>G (n.849C>G)
c.598C>G (p.Arg200Gly)
c.319+2357C>G
11g.71435455G=CA1981486827DHCR7c.1348C= (p.Arg450=)
c.1174C= (p.Arg392=)
c.1399C= (p.Arg467=)
c.1384C= (p.Arg462=)
c.*111C= (n.*111C=)
n.1388C=
c.763C= (p.Arg255=)
c.1252C= (p.Arg418=)
c.849C= (n.849C=)
c.598C= (p.Arg200=)
c.319+2357C=
11g.71435455G>TCA381700695DHCR7c.1348C>A (p.Arg450Ser)
c.1174C>A (p.Arg392Ser)
c.1399C>A (p.Arg467Ser)
c.1384C>A (p.Arg462Ser)
c.*111C>A (n.*111C>A)
n.1388C>A
c.763C>A (p.Arg255Ser)
c.1252C>A (p.Arg418Ser)
c.849C>A (n.849C>A)
c.598C>A (p.Arg200Ser)
c.319+2357C>A
11g.71435456delCA10604128DHCR7c.1348del (p.Arg450AlafsTer?)
c.1174del (p.Arg392AlafsTer?)
c.1399del (p.Arg467AlafsTer?)
c.1384del (p.Arg462AlafsTer?)
c.*111del (n.*111del)
n.1388del
c.763del (p.Arg255AlafsTer?)
c.1252del (p.Arg418AlafsTer?)
c.849del (n.849del)
c.598del (p.Arg200AlafsTer?)
c.319+2357del
 ClinVar dbSNP gnomAD v4
11g.71435456G>ACA224323902DHCR7c.1347C>T (p.His449=)
c.1173C>T (p.His391=)
c.1398C>T (p.His466=)
c.1383C>T (p.His461=)
c.*110C>T (n.*110C>T)
n.1387C>T
c.762C>T (p.His254=)
c.1251C>T (p.His417=)
c.848C>T (n.848C>T)
c.597C>T (p.His199=)
c.319+2356C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435456G>CCA381700696DHCR7c.1347C>G (p.His449Gln)
c.1173C>G (p.His391Gln)
c.1398C>G (p.His466Gln)
c.1383C>G (p.His461Gln)
c.*110C>G (n.*110C>G)
n.1387C>G
c.762C>G (p.His254Gln)
c.1251C>G (p.His417Gln)
c.848C>G (n.848C>G)
c.597C>G (p.His199Gln)
c.319+2356C>G
 gnomAD v4
11g.71435456G=CA1981486828DHCR7c.1347C= (p.His449=)
c.1173C= (p.His391=)
c.1398C= (p.His466=)
c.1383C= (p.His461=)
c.*110C= (n.*110C=)
n.1387C=
c.762C= (p.His254=)
c.1251C= (p.His417=)
c.848C= (n.848C=)
c.597C= (p.His199=)
c.319+2356C=
11g.71435456G>TCA381700698DHCR7c.1347C>A (p.His449Gln)
c.1173C>A (p.His391Gln)
c.1398C>A (p.His466Gln)
c.1383C>A (p.His461Gln)
c.*110C>A (n.*110C>A)
n.1387C>A
c.762C>A (p.His254Gln)
c.1251C>A (p.His417Gln)
c.848C>A (n.848C>A)
c.597C>A (p.His199Gln)
c.319+2356C>A
11g.71435457T>ACA381700700DHCR7c.1346A>T (p.His449Leu)
c.1172A>T (p.His391Leu)
c.1397A>T (p.His466Leu)
c.1382A>T (p.His461Leu)
c.*109A>T (n.*109A>T)
n.1386A>T
c.761A>T (p.His254Leu)
c.1250A>T (p.His417Leu)
c.847A>T (n.847A>T)
c.596A>T (p.His199Leu)
c.319+2355A>T
11g.71435457T>CCA381700702DHCR7c.1346A>G (p.His449Arg)
c.1172A>G (p.His391Arg)
c.1397A>G (p.His466Arg)
c.1382A>G (p.His461Arg)
c.*109A>G (n.*109A>G)
n.1386A>G
c.761A>G (p.His254Arg)
c.1250A>G (p.His417Arg)
c.847A>G (n.847A>G)
c.596A>G (p.His199Arg)
c.319+2355A>G
11g.71435457T>GCA381700704DHCR7c.1346A>C (p.His449Pro)
c.1172A>C (p.His391Pro)
c.1397A>C (p.His466Pro)
c.1382A>C (p.His461Pro)
c.*109A>C (n.*109A>C)
n.1386A>C
c.761A>C (p.His254Pro)
c.1250A>C (p.His417Pro)
c.847A>C (n.847A>C)
c.596A>C (p.His199Pro)
c.319+2355A>C
11g.71435458G>ACA6162255DHCR7c.1345C>T (p.His449Tyr)
c.1171C>T (p.His391Tyr)
c.1396C>T (p.His466Tyr)
c.1381C>T (p.His461Tyr)
c.*108C>T (n.*108C>T)
n.1385C>T
c.760C>T (p.His254Tyr)
c.1249C>T (p.His417Tyr)
c.846C>T (n.846C>T)
c.595C>T (p.His199Tyr)
c.319+2354C>T
 dbSNP ExAC gnomAD v2
11g.71435458G>CCA381700705DHCR7c.1345C>G (p.His449Asp)
c.1171C>G (p.His391Asp)
c.1396C>G (p.His466Asp)
c.1381C>G (p.His461Asp)
c.*108C>G (n.*108C>G)
n.1385C>G
c.760C>G (p.His254Asp)
c.1249C>G (p.His417Asp)
c.846C>G (n.846C>G)
c.595C>G (p.His199Asp)
c.319+2354C>G
11g.71435458G=CA1981486829DHCR7c.1345C= (p.His449=)
c.1171C= (p.His391=)
c.1396C= (p.His466=)
c.1381C= (p.His461=)
c.*108C= (n.*108C=)
n.1385C=
c.760C= (p.His254=)
c.1249C= (p.His417=)
c.846C= (n.846C=)
c.595C= (p.His199=)
c.319+2354C=
11g.71435458G>TCA381700708DHCR7c.1345C>A (p.His449Asn)
c.1171C>A (p.His391Asn)
c.1396C>A (p.His466Asn)
c.1381C>A (p.His461Asn)
c.*108C>A (n.*108C>A)
n.1385C>A
c.760C>A (p.His254Asn)
c.1249C>A (p.His417Asn)
c.846C>A (n.846C>A)
c.595C>A (p.His199Asn)
c.319+2354C>A
11g.71435458_71435461delinsGCTCCA1981486830DHCR7c.1342_1345delinsGAGC (p.Glu448=)
c.1168_1171delinsGAGC (p.Glu390=)
c.1393_1396delinsGAGC (p.Glu465=)
c.1378_1381delinsGAGC (p.Glu460=)
c.*105_*108delinsGAGC (n.*105_*108delinsGAGC)
n.1382_1385delinsGAGC
c.757_760delinsGAGC (p.Glu253=)
c.1246_1249delinsGAGC (p.Glu416=)
c.843_846delinsGAGC (n.843_846delinsGAGC)
c.592_595delinsGAGC (p.Glu198=)
c.319+2351_319+2354delinsGAGC
11g.71435459C>ACA381700710DHCR7c.1344G>T (p.Glu448Asp)
c.1170G>T (p.Glu390Asp)
c.1395G>T (p.Glu465Asp)
c.1380G>T (p.Glu460Asp)
c.*107G>T (n.*107G>T)
n.1384G>T
c.759G>T (p.Glu253Asp)
c.1248G>T (p.Glu416Asp)
c.845G>T (n.845G>T)
c.594G>T (p.Glu198Asp)
c.319+2353G>T
11g.71435459C>GCA381700712DHCR7c.1344G>C (p.Glu448Asp)
c.1170G>C (p.Glu390Asp)
c.1395G>C (p.Glu465Asp)
c.1380G>C (p.Glu460Asp)
c.*107G>C (n.*107G>C)
n.1384G>C
c.759G>C (p.Glu253Asp)
c.1248G>C (p.Glu416Asp)
c.845G>C (n.845G>C)
c.594G>C (p.Glu198Asp)
c.319+2353G>C
11g.71435459C>TCA475565951DHCR7c.1344G>A (p.Glu448=)
c.1170G>A (p.Glu390=)
c.1395G>A (p.Glu465=)
c.1380G>A (p.Glu460=)
c.*107G>A (n.*107G>A)
n.1384G>A
c.759G>A (p.Glu253=)
c.1248G>A (p.Glu416=)
c.845G>A (n.845G>A)
c.594G>A (p.Glu198=)
c.319+2353G>A
11g.71435459_71435461delinsGCA915948242DHCR7c.1342_1344delinsC (p.Glu448ProfsTer?)
c.1168_1170delinsC (p.Glu390ProfsTer?)
c.1393_1395delinsC (p.Glu465ProfsTer?)
c.1378_1380delinsC (p.Glu460ProfsTer?)
c.*105_*107delinsC (n.*105_*107delinsC)
n.1382_1384delinsC
c.757_759delinsC (p.Glu253ProfsTer?)
c.1246_1248delinsC (p.Glu416ProfsTer?)
c.843_845delinsC (n.843_845delinsC)
c.592_594delinsC (p.Glu198ProfsTer?)
c.319+2351_319+2353delinsC
 ClinVar dbSNP
11g.71435460T>ACA381700714DHCR7c.1343A>T (p.Glu448Val)
c.1169A>T (p.Glu390Val)
c.1394A>T (p.Glu465Val)
c.1379A>T (p.Glu460Val)
c.*106A>T (n.*106A>T)
n.1383A>T
c.758A>T (p.Glu253Val)
c.1247A>T (p.Glu416Val)
c.844A>T (n.844A>T)
c.593A>T (p.Glu198Val)
c.319+2352A>T
11g.71435460T>CCA381700716DHCR7c.1343A>G (p.Glu448Gly)
c.1169A>G (p.Glu390Gly)
c.1394A>G (p.Glu465Gly)
c.1379A>G (p.Glu460Gly)
c.*106A>G (n.*106A>G)
n.1383A>G
c.758A>G (p.Glu253Gly)
c.1247A>G (p.Glu416Gly)
c.844A>G (n.844A>G)
c.593A>G (p.Glu198Gly)
c.319+2352A>G
11g.71435460T>GCA381700718DHCR7c.1343A>C (p.Glu448Ala)
c.1169A>C (p.Glu390Ala)
c.1394A>C (p.Glu465Ala)
c.1379A>C (p.Glu460Ala)
c.*106A>C (n.*106A>C)
n.1383A>C
c.758A>C (p.Glu253Ala)
c.1247A>C (p.Glu416Ala)
c.844A>C (n.844A>C)
c.593A>C (p.Glu198Ala)
c.319+2352A>C
11g.71435461C>ACA381700725DHCR7c.1342G>T (p.Glu448Ter)
c.1168G>T (p.Glu390Ter)
c.1393G>T (p.Glu465Ter)
c.1378G>T (p.Glu460Ter)
c.*105G>T (n.*105G>T)
n.1382G>T
c.757G>T (p.Glu253Ter)
c.1246G>T (p.Glu416Ter)
c.843G>T (n.843G>T)
c.592G>T (p.Glu198Ter)
c.319+2351G>T
 gnomAD v4
11g.71435461C=CA1981486831DHCR7c.1342G= (p.Glu448=)
c.1168G= (p.Glu390=)
c.1393G= (p.Glu465=)
c.1378G= (p.Glu460=)
c.*105G= (n.*105G=)
n.1382G=
c.757G= (p.Glu253=)
c.1246G= (p.Glu416=)
c.843G= (n.843G=)
c.592G= (p.Glu198=)
c.319+2351G=
11g.71435461C>GCA381700721DHCR7c.1342G>C (p.Glu448Gln)
c.1168G>C (p.Glu390Gln)
c.1393G>C (p.Glu465Gln)
c.1378G>C (p.Glu460Gln)
c.*105G>C (n.*105G>C)
n.1382G>C
c.757G>C (p.Glu253Gln)
c.1246G>C (p.Glu416Gln)
c.843G>C (n.843G>C)
c.592G>C (p.Glu198Gln)
c.319+2351G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435461C>TCA118513DHCR7c.1342G>A (p.Glu448Lys)
c.1168G>A (p.Glu390Lys)
c.1393G>A (p.Glu465Lys)
c.1378G>A (p.Glu460Lys)
c.*105G>A (n.*105G>A)
n.1382G>A
c.757G>A (p.Glu253Lys)
c.1246G>A (p.Glu416Lys)
c.843G>A (n.843G>A)
c.592G>A (p.Glu198Lys)
c.319+2351G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435462G>ACA147236DHCR7c.1341C>T (p.Asp447=)
c.1167C>T (p.Asp389=)
c.1392C>T (p.Asp464=)
c.1377C>T (p.Asp459=)
c.*104C>T (n.*104C>T)
n.1381C>T
c.756C>T (p.Asp252=)
c.1245C>T (p.Asp415=)
c.842C>T (n.842C>T)
c.591C>T (p.Asp197=)
c.319+2350C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435462G>CCA6162256DHCR7c.1341C>G (p.Asp447Glu)
c.1167C>G (p.Asp389Glu)
c.1392C>G (p.Asp464Glu)
c.1377C>G (p.Asp459Glu)
c.*104C>G (n.*104C>G)
n.1381C>G
c.756C>G (p.Asp252Glu)
c.1245C>G (p.Asp415Glu)
c.842C>G (n.842C>G)
c.591C>G (p.Asp197Glu)
c.319+2350C>G
 dbSNP ExAC
11g.71435462G=CA1981486832DHCR7c.1341C= (p.Asp447=)
c.1167C= (p.Asp389=)
c.1392C= (p.Asp464=)
c.1377C= (p.Asp459=)
c.*104C= (n.*104C=)
n.1381C=
c.756C= (p.Asp252=)
c.1245C= (p.Asp415=)
c.842C= (n.842C=)
c.591C= (p.Asp197=)
c.319+2350C=
11g.71435462G>TCA381700731DHCR7c.1341C>A (p.Asp447Glu)
c.1167C>A (p.Asp389Glu)
c.1392C>A (p.Asp464Glu)
c.1377C>A (p.Asp459Glu)
c.*104C>A (n.*104C>A)
n.1381C>A
c.756C>A (p.Asp252Glu)
c.1245C>A (p.Asp415Glu)
c.842C>A (n.842C>A)
c.591C>A (p.Asp197Glu)
c.319+2350C>A
11g.71435463T>ACA381700733DHCR7c.1340A>T (p.Asp447Val)
c.1166A>T (p.Asp389Val)
c.1391A>T (p.Asp464Val)
c.1376A>T (p.Asp459Val)
c.*103A>T (n.*103A>T)
n.1380A>T
c.755A>T (p.Asp252Val)
c.1244A>T (p.Asp415Val)
c.841A>T (n.841A>T)
c.590A>T (p.Asp197Val)
c.319+2349A>T
11g.71435463T>CCA381700735DHCR7c.1340A>G (p.Asp447Gly)
c.1166A>G (p.Asp389Gly)
c.1391A>G (p.Asp464Gly)
c.1376A>G (p.Asp459Gly)
c.*103A>G (n.*103A>G)
n.1380A>G
c.755A>G (p.Asp252Gly)
c.1244A>G (p.Asp415Gly)
c.841A>G (n.841A>G)
c.590A>G (p.Asp197Gly)
c.319+2349A>G
11g.71435463T>GCA381700745DHCR7c.1340A>C (p.Asp447Ala)
c.1166A>C (p.Asp389Ala)
c.1391A>C (p.Asp464Ala)
c.1376A>C (p.Asp459Ala)
c.*103A>C (n.*103A>C)
n.1380A>C
c.755A>C (p.Asp252Ala)
c.1244A>C (p.Asp415Ala)
c.841A>C (n.841A>C)
c.590A>C (p.Asp197Ala)
c.319+2349A>C
11g.71435464C>ACA381700749DHCR7c.1339G>T (p.Asp447Tyr)
c.1165G>T (p.Asp389Tyr)
c.1390G>T (p.Asp464Tyr)
c.1375G>T (p.Asp459Tyr)
c.*102G>T (n.*102G>T)
n.1379G>T
c.754G>T (p.Asp252Tyr)
c.1243G>T (p.Asp415Tyr)
c.840G>T (n.840G>T)
c.589G>T (p.Asp197Tyr)
c.319+2348G>T
 COSMIC COSMIC
11g.71435464C=CA1981486833DHCR7c.1339G= (p.Asp447=)
c.1165G= (p.Asp389=)
c.1390G= (p.Asp464=)
c.1375G= (p.Asp459=)
c.*102G= (n.*102G=)
n.1379G=
c.754G= (p.Asp252=)
c.1243G= (p.Asp415=)
c.840G= (n.840G=)
c.589G= (p.Asp197=)
c.319+2348G=
11g.71435464C>GCA381700751DHCR7c.1339G>C (p.Asp447His)
c.1165G>C (p.Asp389His)
c.1390G>C (p.Asp464His)
c.1375G>C (p.Asp459His)
c.*102G>C (n.*102G>C)
n.1379G>C
c.754G>C (p.Asp252His)
c.1243G>C (p.Asp415His)
c.840G>C (n.840G>C)
c.589G>C (p.Asp197His)
c.319+2348G>C
 dbSNP gnomAD v2 gnomAD v4
11g.71435464C>TCA381700753DHCR7c.1339G>A (p.Asp447Asn)
c.1165G>A (p.Asp389Asn)
c.1390G>A (p.Asp464Asn)
c.1375G>A (p.Asp459Asn)
c.*102G>A (n.*102G>A)
n.1379G>A
c.754G>A (p.Asp252Asn)
c.1243G>A (p.Asp415Asn)
c.840G>A (n.840G>A)
c.589G>A (p.Asp197Asn)
c.319+2348G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435466delCA2614857183DHCR7c.1339del (p.Asp447ThrfsTer?)
c.1165del (p.Asp389ThrfsTer?)
c.1390del (p.Asp464ThrfsTer?)
c.1375del (p.Asp459ThrfsTer?)
c.*102del (n.*102del)
n.1379del
c.754del (p.Asp252ThrfsTer?)
c.1243del (p.Asp415ThrfsTer?)
c.840del (n.840del)
c.589del (p.Asp197ThrfsTer?)
c.319+2348del
 gnomAD v4
11g.71435465C>ACA475565968DHCR7c.1338G>T (p.Arg446=)
c.1164G>T (p.Arg388=)
c.1389G>T (p.Arg463=)
c.1374G>T (p.Arg458=)
c.*101G>T (n.*101G>T)
n.1378G>T
c.753G>T (p.Arg251=)
c.1242G>T (p.Arg414=)
c.839G>T (n.839G>T)
c.588G>T (p.Arg196=)
c.319+2347G>T
11g.71435465C=CA1981486834DHCR7c.1338G= (p.Arg446=)
c.1164G= (p.Arg388=)
c.1389G= (p.Arg463=)
c.1374G= (p.Arg458=)
c.*101G= (n.*101G=)
n.1378G=
c.753G= (p.Arg251=)
c.1242G= (p.Arg414=)
c.839G= (n.839G=)
c.588G= (p.Arg196=)
c.319+2347G=
11g.71435465C>GCA224323937DHCR7c.1338G>C (p.Arg446=)
c.1164G>C (p.Arg388=)
c.1389G>C (p.Arg463=)
c.1374G>C (p.Arg458=)
c.*101G>C (n.*101G>C)
n.1378G>C
c.753G>C (p.Arg251=)
c.1242G>C (p.Arg414=)
c.839G>C (n.839G>C)
c.588G>C (p.Arg196=)
c.319+2347G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435465C>TCA475565970DHCR7c.1338G>A (p.Arg446=)
c.1164G>A (p.Arg388=)
c.1389G>A (p.Arg463=)
c.1374G>A (p.Arg458=)
c.*101G>A (n.*101G>A)
n.1378G>A
c.753G>A (p.Arg251=)
c.1242G>A (p.Arg414=)
c.839G>A (n.839G>A)
c.588G>A (p.Arg196=)
c.319+2347G>A
 gnomAD v4
11g.71435466C>ACA381700761DHCR7c.1337G>T (p.Arg446Leu)
c.1163G>T (p.Arg388Leu)
c.1388G>T (p.Arg463Leu)
c.1373G>T (p.Arg458Leu)
c.*100G>T (n.*100G>T)
n.1377G>T
c.752G>T (p.Arg251Leu)
c.1241G>T (p.Arg414Leu)
c.838G>T (n.838G>T)
c.587G>T (p.Arg196Leu)
c.319+2346G>T
11g.71435466C=CA1981486835DHCR7c.1337G= (p.Arg446=)
c.1163G= (p.Arg388=)
c.1388G= (p.Arg463=)
c.1373G= (p.Arg458=)
c.*100G= (n.*100G=)
n.1377G=
c.752G= (p.Arg251=)
c.1241G= (p.Arg414=)
c.838G= (n.838G=)
c.587G= (p.Arg196=)
c.319+2346G=
11g.71435466C>GCA381700763DHCR7c.1337G>C (p.Arg446Pro)
c.1163G>C (p.Arg388Pro)
c.1388G>C (p.Arg463Pro)
c.1373G>C (p.Arg458Pro)
c.*100G>C (n.*100G>C)
n.1377G>C
c.752G>C (p.Arg251Pro)
c.1241G>C (p.Arg414Pro)
c.838G>C (n.838G>C)
c.587G>C (p.Arg196Pro)
c.319+2346G>C
 ClinVar dbSNP gnomAD v4
11g.71435466C>TCA6162258DHCR7c.1337G>A (p.Arg446Gln)
c.1163G>A (p.Arg388Gln)
c.1388G>A (p.Arg463Gln)
c.1373G>A (p.Arg458Gln)
c.*100G>A (n.*100G>A)
n.1377G>A
c.752G>A (p.Arg251Gln)
c.1241G>A (p.Arg414Gln)
c.838G>A (n.838G>A)
c.587G>A (p.Arg196Gln)
c.319+2346G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435467G>ACA6162259DHCR7c.1336C>T (p.Arg446Trp)
c.1162C>T (p.Arg388Trp)
c.1387C>T (p.Arg463Trp)
c.1372C>T (p.Arg458Trp)
c.*99C>T (n.*99C>T)
n.1376C>T
c.751C>T (p.Arg251Trp)
c.1240C>T (p.Arg414Trp)
c.837C>T (n.837C>T)
c.586C>T (p.Arg196Trp)
c.319+2345C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435467G>CCA381700772DHCR7c.1336C>G (p.Arg446Gly)
c.1162C>G (p.Arg388Gly)
c.1387C>G (p.Arg463Gly)
c.1372C>G (p.Arg458Gly)
c.*99C>G (n.*99C>G)
n.1376C>G
c.751C>G (p.Arg251Gly)
c.1240C>G (p.Arg414Gly)
c.837C>G (n.837C>G)
c.586C>G (p.Arg196Gly)
c.319+2345C>G
11g.71435467G=CA1981486836DHCR7c.1336C= (p.Arg446=)
c.1162C= (p.Arg388=)
c.1387C= (p.Arg463=)
c.1372C= (p.Arg458=)
c.*99C= (n.*99C=)
n.1376C=
c.751C= (p.Arg251=)
c.1240C= (p.Arg414=)
c.837C= (n.837C=)
c.586C= (p.Arg196=)
c.319+2345C=
11g.71435467G>TCA475565979DHCR7c.1336C>A (p.Arg446=)
c.1162C>A (p.Arg388=)
c.1387C>A (p.Arg463=)
c.1372C>A (p.Arg458=)
c.*99C>A (n.*99C>A)
n.1376C>A
c.751C>A (p.Arg251=)
c.1240C>A (p.Arg414=)
c.837C>A (n.837C>A)
c.586C>A (p.Arg196=)
c.319+2345C>A
11g.71435469_71435471dupCA6162257DHCR7c.1334_1336dup (p.Leu445_Arg446insLeu)
c.1160_1162dup (p.Leu387_Arg388insLeu)
c.1385_1387dup (p.Leu462_Arg463insLeu)
c.1370_1372dup (p.Leu457_Arg458insLeu)
c.*97_*99dup (n.*97_*99dup)
n.1374_1376dup
c.749_751dup (p.Leu250_Arg251insLeu)
c.1238_1240dup (p.Leu413_Arg414insLeu)
c.835_837dup (n.835_837dup)
c.584_586dup (p.Leu195_Arg196insLeu)
c.319+2343_319+2345dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435468G>ACA475565981DHCR7c.1335C>T (p.Leu445=)
c.1161C>T (p.Leu387=)
c.1386C>T (p.Leu462=)
c.1371C>T (p.Leu457=)
c.*98C>T (n.*98C>T)
n.1375C>T
c.750C>T (p.Leu250=)
c.1239C>T (p.Leu413=)
c.836C>T (n.836C>T)
c.585C>T (p.Leu195=)
c.319+2344C>T
11g.71435468G>CCA475565982DHCR7c.1335C>G (p.Leu445=)
c.1161C>G (p.Leu387=)
c.1386C>G (p.Leu462=)
c.1371C>G (p.Leu457=)
c.*98C>G (n.*98C>G)
n.1375C>G
c.750C>G (p.Leu250=)
c.1239C>G (p.Leu413=)
c.836C>G (n.836C>G)
c.585C>G (p.Leu195=)
c.319+2344C>G
11g.71435468G>TCA475565983DHCR7c.1335C>A (p.Leu445=)
c.1161C>A (p.Leu387=)
c.1386C>A (p.Leu462=)
c.1371C>A (p.Leu457=)
c.*98C>A (n.*98C>A)
n.1375C>A
c.750C>A (p.Leu250=)
c.1239C>A (p.Leu413=)
c.836C>A (n.836C>A)
c.585C>A (p.Leu195=)
c.319+2344C>A
11g.71435469A>CCA381700778DHCR7c.1334T>G (p.Leu445Arg)
c.1160T>G (p.Leu387Arg)
c.1385T>G (p.Leu462Arg)
c.1370T>G (p.Leu457Arg)
c.*97T>G (n.*97T>G)
n.1374T>G
c.749T>G (p.Leu250Arg)
c.1238T>G (p.Leu413Arg)
c.835T>G (n.835T>G)
c.584T>G (p.Leu195Arg)
c.319+2343T>G
11g.71435469A>GCA381700781DHCR7c.1334T>C (p.Leu445Pro)
c.1160T>C (p.Leu387Pro)
c.1385T>C (p.Leu462Pro)
c.1370T>C (p.Leu457Pro)
c.*97T>C (n.*97T>C)
n.1374T>C
c.749T>C (p.Leu250Pro)
c.1238T>C (p.Leu413Pro)
c.835T>C (n.835T>C)
c.584T>C (p.Leu195Pro)
c.319+2343T>C
11g.71435469A>TCA381700784DHCR7c.1334T>A (p.Leu445His)
c.1160T>A (p.Leu387His)
c.1385T>A (p.Leu462His)
c.1370T>A (p.Leu457His)
c.*97T>A (n.*97T>A)
n.1374T>A
c.749T>A (p.Leu250His)
c.1238T>A (p.Leu413His)
c.835T>A (n.835T>A)
c.584T>A (p.Leu195His)
c.319+2343T>A
11g.71435470G>ACA381700787DHCR7c.1333C>T (p.Leu445Phe)
c.1159C>T (p.Leu387Phe)
c.1384C>T (p.Leu462Phe)
c.1369C>T (p.Leu457Phe)
c.*96C>T (n.*96C>T)
n.1373C>T
c.748C>T (p.Leu250Phe)
c.1237C>T (p.Leu413Phe)
c.834C>T (n.834C>T)
c.583C>T (p.Leu195Phe)
c.319+2342C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435470G>CCA381700790DHCR7c.1333C>G (p.Leu445Val)
c.1159C>G (p.Leu387Val)
c.1384C>G (p.Leu462Val)
c.1369C>G (p.Leu457Val)
c.*96C>G (n.*96C>G)
n.1373C>G
c.748C>G (p.Leu250Val)
c.1237C>G (p.Leu413Val)
c.834C>G (n.834C>G)
c.583C>G (p.Leu195Val)
c.319+2342C>G
 dbSNP gnomAD v2 gnomAD v4
11g.71435470G=CA1981486837DHCR7c.1333C= (p.Leu445=)
c.1159C= (p.Leu387=)
c.1384C= (p.Leu462=)
c.1369C= (p.Leu457=)
c.*96C= (n.*96C=)
n.1373C=
c.748C= (p.Leu250=)
c.1237C= (p.Leu413=)
c.834C= (n.834C=)
c.583C= (p.Leu195=)
c.319+2342C=
11g.71435470G>TCA381700800DHCR7c.1333C>A (p.Leu445Ile)
c.1159C>A (p.Leu387Ile)
c.1384C>A (p.Leu462Ile)
c.1369C>A (p.Leu457Ile)
c.*96C>A (n.*96C>A)
n.1373C>A
c.748C>A (p.Leu250Ile)
c.1237C>A (p.Leu413Ile)
c.834C>A (n.834C>A)
c.583C>A (p.Leu195Ile)
c.319+2342C>A
11g.71435471G>ACA475565986DHCR7c.1332C>T (p.Cys444=)
c.1158C>T (p.Cys386=)
c.1383C>T (p.Cys461=)
c.1368C>T (p.Cys456=)
c.*95C>T (n.*95C>T)
n.1372C>T
c.747C>T (p.Cys249=)
c.1236C>T (p.Cys412=)
c.833C>T (n.833C>T)
c.582C>T (p.Cys194=)
c.319+2341C>T
11g.71435471G>CCA381700805DHCR7c.1332C>G (p.Cys444Trp)
c.1158C>G (p.Cys386Trp)
c.1383C>G (p.Cys461Trp)
c.1368C>G (p.Cys456Trp)
c.*95C>G (n.*95C>G)
n.1372C>G
c.747C>G (p.Cys249Trp)
c.1236C>G (p.Cys412Trp)
c.833C>G (n.833C>G)
c.582C>G (p.Cys194Trp)
c.319+2341C>G
11g.71435471G>TCA381700803DHCR7c.1332C>A (p.Cys444Ter)
c.1158C>A (p.Cys386Ter)
c.1383C>A (p.Cys461Ter)
c.1368C>A (p.Cys456Ter)
c.*95C>A (n.*95C>A)
n.1372C>A
c.747C>A (p.Cys249Ter)
c.1236C>A (p.Cys412Ter)
c.833C>A (n.833C>A)
c.582C>A (p.Cys194Ter)
c.319+2341C>A
11g.71435472C>ACA381700809DHCR7c.1331G>T (p.Cys444Phe)
c.1157G>T (p.Cys386Phe)
c.1382G>T (p.Cys461Phe)
c.1367G>T (p.Cys456Phe)
c.*94G>T (n.*94G>T)
n.1371G>T
c.746G>T (p.Cys249Phe)
c.1235G>T (p.Cys412Phe)
c.832G>T (n.832G>T)
c.581G>T (p.Cys194Phe)
c.319+2340G>T
11g.71435472C>GCA381700811DHCR7c.1331G>C (p.Cys444Ser)
c.1157G>C (p.Cys386Ser)
c.1382G>C (p.Cys461Ser)
c.1367G>C (p.Cys456Ser)
c.*94G>C (n.*94G>C)
n.1371G>C
c.746G>C (p.Cys249Ser)
c.1235G>C (p.Cys412Ser)
c.832G>C (n.832G>C)
c.581G>C (p.Cys194Ser)
c.319+2340G>C
11g.71435472C>TCA381700814DHCR7c.1331G>A (p.Cys444Tyr)
c.1157G>A (p.Cys386Tyr)
c.1382G>A (p.Cys461Tyr)
c.1367G>A (p.Cys456Tyr)
c.*94G>A (n.*94G>A)
n.1371G>A
c.746G>A (p.Cys249Tyr)
c.1235G>A (p.Cys412Tyr)
c.832G>A (n.832G>A)
c.581G>A (p.Cys194Tyr)
c.319+2340G>A
 gnomAD v4
11g.71435473A>CCA381700816DHCR7c.1330T>G (p.Cys444Gly)
c.1156T>G (p.Cys386Gly)
c.1381T>G (p.Cys461Gly)
c.1366T>G (p.Cys456Gly)
c.*93T>G (n.*93T>G)
n.1370T>G
c.745T>G (p.Cys249Gly)
c.1234T>G (p.Cys412Gly)
c.831T>G (n.831T>G)
c.580T>G (p.Cys194Gly)
c.319+2339T>G
11g.71435473A>GCA381700817DHCR7c.1330T>C (p.Cys444Arg)
c.1156T>C (p.Cys386Arg)
c.1381T>C (p.Cys461Arg)
c.1366T>C (p.Cys456Arg)
c.*93T>C (n.*93T>C)
n.1370T>C
c.745T>C (p.Cys249Arg)
c.1234T>C (p.Cys412Arg)
c.831T>C (n.831T>C)
c.580T>C (p.Cys194Arg)
c.319+2339T>C
11g.71435473A>TCA381700820DHCR7c.1330T>A (p.Cys444Ser)
c.1156T>A (p.Cys386Ser)
c.1381T>A (p.Cys461Ser)
c.1366T>A (p.Cys456Ser)
c.*93T>A (n.*93T>A)
n.1370T>A
c.745T>A (p.Cys249Ser)
c.1234T>A (p.Cys412Ser)
c.831T>A (n.831T>A)
c.580T>A (p.Cys194Ser)
c.319+2339T>A
11g.71435474G>ACA475565990DHCR7c.1329C>T (p.Arg443=)
c.1155C>T (p.Arg385=)
c.1380C>T (p.Arg460=)
c.1365C>T (p.Arg455=)
c.*92C>T (n.*92C>T)
n.1369C>T
c.744C>T (p.Arg248=)
c.1233C>T (p.Arg411=)
c.830C>T (n.830C>T)
c.579C>T (p.Arg193=)
c.319+2338C>T
11g.71435474G>CCA475565991DHCR7c.1329C>G (p.Arg443=)
c.1155C>G (p.Arg385=)
c.1380C>G (p.Arg460=)
c.1365C>G (p.Arg455=)
c.*92C>G (n.*92C>G)
n.1369C>G
c.744C>G (p.Arg248=)
c.1233C>G (p.Arg411=)
c.830C>G (n.830C>G)
c.579C>G (p.Arg193=)
c.319+2338C>G
11g.71435474G>TCA475565992DHCR7c.1329C>A (p.Arg443=)
c.1155C>A (p.Arg385=)
c.1380C>A (p.Arg460=)
c.1365C>A (p.Arg455=)
c.*92C>A (n.*92C>A)
n.1369C>A
c.744C>A (p.Arg248=)
c.1233C>A (p.Arg411=)
c.830C>A (n.830C>A)
c.579C>A (p.Arg193=)
c.319+2338C>A
11g.71435475C>ACA6162262DHCR7c.1328G>T (p.Arg443Leu)
c.1154G>T (p.Arg385Leu)
c.1379G>T (p.Arg460Leu)
c.1364G>T (p.Arg455Leu)
c.*91G>T (n.*91G>T)
n.1368G>T
c.743G>T (p.Arg248Leu)
c.1232G>T (p.Arg411Leu)
c.829G>T (n.829G>T)
c.578G>T (p.Arg193Leu)
c.319+2337G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435475C=CA1981486838DHCR7c.1328G= (p.Arg443=)
c.1154G= (p.Arg385=)
c.1379G= (p.Arg460=)
c.1364G= (p.Arg455=)
c.*91G= (n.*91G=)
n.1368G=
c.743G= (p.Arg248=)
c.1232G= (p.Arg411=)
c.829G= (n.829G=)
c.578G= (p.Arg193=)
c.319+2337G=
11g.71435475C>GCA6162260DHCR7c.1328G>C (p.Arg443Pro)
c.1154G>C (p.Arg385Pro)
c.1379G>C (p.Arg460Pro)
c.1364G>C (p.Arg455Pro)
c.*91G>C (n.*91G>C)
n.1368G>C
c.743G>C (p.Arg248Pro)
c.1232G>C (p.Arg411Pro)
c.829G>C (n.829G>C)
c.578G>C (p.Arg193Pro)
c.319+2337G>C
 ClinVar dbSNP ExAC gnomAD v2
11g.71435475C>TCA6162261DHCR7c.1328G>A (p.Arg443His)
c.1154G>A (p.Arg385His)
c.1379G>A (p.Arg460His)
c.1364G>A (p.Arg455His)
c.*91G>A (n.*91G>A)
n.1368G>A
c.743G>A (p.Arg248His)
c.1232G>A (p.Arg411His)
c.829G>A (n.829G>A)
c.578G>A (p.Arg193His)
c.319+2337G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435476G>ACA6162263DHCR7c.1327C>T (p.Arg443Cys)
c.1153C>T (p.Arg385Cys)
c.1378C>T (p.Arg460Cys)
c.1363C>T (p.Arg455Cys)
c.*90C>T (n.*90C>T)
n.1367C>T
c.742C>T (p.Arg248Cys)
c.1231C>T (p.Arg411Cys)
c.828C>T (n.828C>T)
c.577C>T (p.Arg193Cys)
c.319+2336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435476G>CCA381700830DHCR7c.1327C>G (p.Arg443Gly)
c.1153C>G (p.Arg385Gly)
c.1378C>G (p.Arg460Gly)
c.1363C>G (p.Arg455Gly)
c.*90C>G (n.*90C>G)
n.1367C>G
c.742C>G (p.Arg248Gly)
c.1231C>G (p.Arg411Gly)
c.828C>G (n.828C>G)
c.577C>G (p.Arg193Gly)
c.319+2336C>G
11g.71435476G=CA1981486839DHCR7c.1327C= (p.Arg443=)
c.1153C= (p.Arg385=)
c.1378C= (p.Arg460=)
c.1363C= (p.Arg455=)
c.*90C= (n.*90C=)
n.1367C=
c.742C= (p.Arg248=)
c.1231C= (p.Arg411=)
c.828C= (n.828C=)
c.577C= (p.Arg193=)
c.319+2336C=
11g.71435476G>TCA381700833DHCR7c.1327C>A (p.Arg443Ser)
c.1153C>A (p.Arg385Ser)
c.1378C>A (p.Arg460Ser)
c.1363C>A (p.Arg455Ser)
c.*90C>A (n.*90C>A)
n.1367C>A
c.742C>A (p.Arg248Ser)
c.1231C>A (p.Arg411Ser)
c.828C>A (n.828C>A)
c.577C>A (p.Arg193Ser)
c.319+2336C>A
 gnomAD v4
11g.71435477G>ACA475565998DHCR7c.1326C>T (p.His442=)
c.1152C>T (p.His384=)
c.1377C>T (p.His459=)
c.1362C>T (p.His454=)
c.*89C>T (n.*89C>T)
n.1366C>T
c.741C>T (p.His247=)
c.1230C>T (p.His410=)
c.827C>T (n.827C>T)
c.576C>T (p.His192=)
c.319+2335C>T
 ClinVar gnomAD v4
11g.71435477G>CCA381700835DHCR7c.1326C>G (p.His442Gln)
c.1152C>G (p.His384Gln)
c.1377C>G (p.His459Gln)
c.1362C>G (p.His454Gln)
c.*89C>G (n.*89C>G)
n.1366C>G
c.741C>G (p.His247Gln)
c.1230C>G (p.His410Gln)
c.827C>G (n.827C>G)
c.576C>G (p.His192Gln)
c.319+2335C>G
11g.71435477G>TCA381700836DHCR7c.1326C>A (p.His442Gln)
c.1152C>A (p.His384Gln)
c.1377C>A (p.His459Gln)
c.1362C>A (p.His454Gln)
c.*89C>A (n.*89C>A)
n.1366C>A
c.741C>A (p.His247Gln)
c.1230C>A (p.His410Gln)
c.827C>A (n.827C>A)
c.576C>A (p.His192Gln)
c.319+2335C>A
11g.71435478T>ACA381700839DHCR7c.1325A>T (p.His442Leu)
c.1151A>T (p.His384Leu)
c.1376A>T (p.His459Leu)
c.1361A>T (p.His454Leu)
c.*88A>T (n.*88A>T)
n.1365A>T
c.740A>T (p.His247Leu)
c.1229A>T (p.His410Leu)
c.826A>T (n.826A>T)
c.575A>T (p.His192Leu)
c.319+2334A>T
11g.71435478T>CCA381700842DHCR7c.1325A>G (p.His442Arg)
c.1151A>G (p.His384Arg)
c.1376A>G (p.His459Arg)
c.1361A>G (p.His454Arg)
c.*88A>G (n.*88A>G)
n.1365A>G
c.740A>G (p.His247Arg)
c.1229A>G (p.His410Arg)
c.826A>G (n.826A>G)
c.575A>G (p.His192Arg)
c.319+2334A>G
 ClinVar dbSNP
11g.71435478T>GCA381700843DHCR7c.1325A>C (p.His442Pro)
c.1151A>C (p.His384Pro)
c.1376A>C (p.His459Pro)
c.1361A>C (p.His454Pro)
c.*88A>C (n.*88A>C)
n.1365A>C
c.740A>C (p.His247Pro)
c.1229A>C (p.His410Pro)
c.826A>C (n.826A>C)
c.575A>C (p.His192Pro)
c.319+2334A>C
11g.71435478T=CA1981486840DHCR7c.1325A= (p.His442=)
c.1151A= (p.His384=)
c.1376A= (p.His459=)
c.1361A= (p.His454=)
c.*88A= (n.*88A=)
n.1365A=
c.740A= (p.His247=)
c.1229A= (p.His410=)
c.826A= (n.826A=)
c.575A= (p.His192=)
c.319+2334A=
11g.71435479G>ACA381700847DHCR7c.1324C>T (p.His442Tyr)
c.1150C>T (p.His384Tyr)
c.1375C>T (p.His459Tyr)
c.1360C>T (p.His454Tyr)
c.*87C>T (n.*87C>T)
n.1364C>T
c.739C>T (p.His247Tyr)
c.1228C>T (p.His410Tyr)
c.825C>T (n.825C>T)
c.574C>T (p.His192Tyr)
c.319+2333C>T
 gnomAD v4
11g.71435479G>CCA381700849DHCR7c.1324C>G (p.His442Asp)
c.1150C>G (p.His384Asp)
c.1375C>G (p.His459Asp)
c.1360C>G (p.His454Asp)
c.*87C>G (n.*87C>G)
n.1364C>G
c.739C>G (p.His247Asp)
c.1228C>G (p.His410Asp)
c.825C>G (n.825C>G)
c.574C>G (p.His192Asp)
c.319+2333C>G
 ClinVar dbSNP
11g.71435479G>TCA381700850DHCR7c.1324C>A (p.His442Asn)
c.1150C>A (p.His384Asn)
c.1375C>A (p.His459Asn)
c.1360C>A (p.His454Asn)
c.*87C>A (n.*87C>A)
n.1364C>A
c.739C>A (p.His247Asn)
c.1228C>A (p.His410Asn)
c.825C>A (n.825C>A)
c.574C>A (p.His192Asn)
c.319+2333C>A
11g.71435480G>ACA475566013DHCR7c.1323C>T (p.Thr441=)
c.1149C>T (p.Thr383=)
c.1374C>T (p.Thr458=)
c.1359C>T (p.Thr453=)
c.*86C>T (n.*86C>T)
n.1363C>T
c.738C>T (p.Thr246=)
c.1227C>T (p.Thr409=)
c.824C>T (n.824C>T)
c.573C>T (p.Thr191=)
c.319+2332C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435480G>CCA475566015DHCR7c.1323C>G (p.Thr441=)
c.1149C>G (p.Thr383=)
c.1374C>G (p.Thr458=)
c.1359C>G (p.Thr453=)
c.*86C>G (n.*86C>G)
n.1363C>G
c.738C>G (p.Thr246=)
c.1227C>G (p.Thr409=)
c.824C>G (n.824C>G)
c.573C>G (p.Thr191=)
c.319+2332C>G
11g.71435480G=CA1981486841DHCR7c.1323C= (p.Thr441=)
c.1149C= (p.Thr383=)
c.1374C= (p.Thr458=)
c.1359C= (p.Thr453=)
c.*86C= (n.*86C=)
n.1363C=
c.738C= (p.Thr246=)
c.1227C= (p.Thr409=)
c.824C= (n.824C=)
c.573C= (p.Thr191=)
c.319+2332C=
11g.71435480G>TCA475566017DHCR7c.1323C>A (p.Thr441=)
c.1149C>A (p.Thr383=)
c.1374C>A (p.Thr458=)
c.1359C>A (p.Thr453=)
c.*86C>A (n.*86C>A)
n.1363C>A
c.738C>A (p.Thr246=)
c.1227C>A (p.Thr409=)
c.824C>A (n.824C>A)
c.573C>A (p.Thr191=)
c.319+2332C>A
11g.71435481G>ACA381700852DHCR7c.1322C>T (p.Thr441Ile)
c.1148C>T (p.Thr383Ile)
c.1373C>T (p.Thr458Ile)
c.1358C>T (p.Thr453Ile)
c.*85C>T (n.*85C>T)
n.1362C>T
c.737C>T (p.Thr246Ile)
c.1226C>T (p.Thr409Ile)
c.823C>T (n.823C>T)
c.572C>T (p.Thr191Ile)
c.319+2331C>T
 dbSNP gnomAD v3 gnomAD v4
11g.71435481G>CCA381700857DHCR7c.1322C>G (p.Thr441Ser)
c.1148C>G (p.Thr383Ser)
c.1373C>G (p.Thr458Ser)
c.1358C>G (p.Thr453Ser)
c.*85C>G (n.*85C>G)
n.1362C>G
c.737C>G (p.Thr246Ser)
c.1226C>G (p.Thr409Ser)
c.823C>G (n.823C>G)
c.572C>G (p.Thr191Ser)
c.319+2331C>G
11g.71435481G=CA1981486842DHCR7c.1322C= (p.Thr441=)
c.1148C= (p.Thr383=)
c.1373C= (p.Thr458=)
c.1358C= (p.Thr453=)
c.*85C= (n.*85C=)
n.1362C=
c.737C= (p.Thr246=)
c.1226C= (p.Thr409=)
c.823C= (n.823C=)
c.572C= (p.Thr191=)
c.319+2331C=
11g.71435481G>TCA381700854DHCR7c.1322C>A (p.Thr441Asn)
c.1148C>A (p.Thr383Asn)
c.1373C>A (p.Thr458Asn)
c.1358C>A (p.Thr453Asn)
c.*85C>A (n.*85C>A)
n.1362C>A
c.737C>A (p.Thr246Asn)
c.1226C>A (p.Thr409Asn)
c.823C>A (n.823C>A)
c.572C>A (p.Thr191Asn)
c.319+2331C>A
11g.71435482T>ACA6162264DHCR7c.1321A>T (p.Thr441Ser)
c.1147A>T (p.Thr383Ser)
c.1372A>T (p.Thr458Ser)
c.1357A>T (p.Thr453Ser)
c.*84A>T (n.*84A>T)
n.1361A>T
c.736A>T (p.Thr246Ser)
c.1225A>T (p.Thr409Ser)
c.822A>T (n.822A>T)
c.571A>T (p.Thr191Ser)
c.319+2330A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435482T>CCA381700863DHCR7c.1321A>G (p.Thr441Ala)
c.1147A>G (p.Thr383Ala)
c.1372A>G (p.Thr458Ala)
c.1357A>G (p.Thr453Ala)
c.*84A>G (n.*84A>G)
n.1361A>G
c.736A>G (p.Thr246Ala)
c.1225A>G (p.Thr409Ala)
c.822A>G (n.822A>G)
c.571A>G (p.Thr191Ala)
c.319+2330A>G
 ClinVar dbSNP
11g.71435482T>GCA381700862DHCR7c.1321A>C (p.Thr441Pro)
c.1147A>C (p.Thr383Pro)
c.1372A>C (p.Thr458Pro)
c.1357A>C (p.Thr453Pro)
c.*84A>C (n.*84A>C)
n.1361A>C
c.736A>C (p.Thr246Pro)
c.1225A>C (p.Thr409Pro)
c.822A>C (n.822A>C)
c.571A>C (p.Thr191Pro)
c.319+2330A>C
11g.71435482T=CA1981486843DHCR7c.1321A= (p.Thr441=)
c.1147A= (p.Thr383=)
c.1372A= (p.Thr458=)
c.1357A= (p.Thr453=)
c.*84A= (n.*84A=)
n.1361A=
c.736A= (p.Thr246=)
c.1225A= (p.Thr409=)
c.822A= (n.822A=)
c.571A= (p.Thr191=)
c.319+2330A=
11g.71435483C>ACA475566027DHCR7c.1320G>T (p.Leu440=)
c.1146G>T (p.Leu382=)
c.1371G>T (p.Leu457=)
c.1356G>T (p.Leu452=)
c.*83G>T (n.*83G>T)
n.1360G>T
c.735G>T (p.Leu245=)
c.1224G>T (p.Leu408=)
c.821G>T (n.821G>T)
c.570G>T (p.Leu190=)
c.319+2329G>T
11g.71435483C=CA1981486844DHCR7c.1320G= (p.Leu440=)
c.1146G= (p.Leu382=)
c.1371G= (p.Leu457=)
c.1356G= (p.Leu452=)
c.*83G= (n.*83G=)
n.1360G=
c.735G= (p.Leu245=)
c.1224G= (p.Leu408=)
c.821G= (n.821G=)
c.570G= (p.Leu190=)
c.319+2329G=
11g.71435483C>GCA475566029DHCR7c.1320G>C (p.Leu440=)
c.1146G>C (p.Leu382=)
c.1371G>C (p.Leu457=)
c.1356G>C (p.Leu452=)
c.*83G>C (n.*83G>C)
n.1360G>C
c.735G>C (p.Leu245=)
c.1224G>C (p.Leu408=)
c.821G>C (n.821G>C)
c.570G>C (p.Leu190=)
c.319+2329G>C
11g.71435483C>TCA6162265DHCR7c.1320G>A (p.Leu440=)
c.1146G>A (p.Leu382=)
c.1371G>A (p.Leu457=)
c.1356G>A (p.Leu452=)
c.*83G>A (n.*83G>A)
n.1360G>A
c.735G>A (p.Leu245=)
c.1224G>A (p.Leu408=)
c.821G>A (n.821G>A)
c.570G>A (p.Leu190=)
c.319+2329G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435484A>CCA381700869DHCR7c.1319T>G (p.Leu440Arg)
c.1145T>G (p.Leu382Arg)
c.1370T>G (p.Leu457Arg)
c.1355T>G (p.Leu452Arg)
c.*82T>G (n.*82T>G)
n.1359T>G
c.734T>G (p.Leu245Arg)
c.1223T>G (p.Leu408Arg)
c.820T>G (n.820T>G)
c.569T>G (p.Leu190Arg)
c.319+2328T>G
11g.71435484A>GCA381700872DHCR7c.1319T>C (p.Leu440Pro)
c.1145T>C (p.Leu382Pro)
c.1370T>C (p.Leu457Pro)
c.1355T>C (p.Leu452Pro)
c.*82T>C (n.*82T>C)
n.1359T>C
c.734T>C (p.Leu245Pro)
c.1223T>C (p.Leu408Pro)
c.820T>C (n.820T>C)
c.569T>C (p.Leu190Pro)
c.319+2328T>C
 gnomAD v4
11g.71435484A>TCA381700873DHCR7c.1319T>A (p.Leu440Gln)
c.1145T>A (p.Leu382Gln)
c.1370T>A (p.Leu457Gln)
c.1355T>A (p.Leu452Gln)
c.*82T>A (n.*82T>A)
n.1359T>A
c.734T>A (p.Leu245Gln)
c.1223T>A (p.Leu408Gln)
c.820T>A (n.820T>A)
c.569T>A (p.Leu190Gln)
c.319+2328T>A
11g.71435485G>ACA475566036DHCR7c.1318C>T (p.Leu440=)
c.1144C>T (p.Leu382=)
c.1369C>T (p.Leu457=)
c.1354C>T (p.Leu452=)
c.*81C>T (n.*81C>T)
n.1358C>T
c.733C>T (p.Leu245=)
c.1222C>T (p.Leu408=)
c.819C>T (n.819C>T)
c.568C>T (p.Leu190=)
c.319+2327C>T
 ClinVar dbSNP
11g.71435485G>CCA381700875DHCR7c.1318C>G (p.Leu440Val)
c.1144C>G (p.Leu382Val)
c.1369C>G (p.Leu457Val)
c.1354C>G (p.Leu452Val)
c.*81C>G (n.*81C>G)
n.1358C>G
c.733C>G (p.Leu245Val)
c.1222C>G (p.Leu408Val)
c.819C>G (n.819C>G)
c.568C>G (p.Leu190Val)
c.319+2327C>G
 dbSNP gnomAD v3 gnomAD v4
11g.71435485G=CA1981486845DHCR7c.1318C= (p.Leu440=)
c.1144C= (p.Leu382=)
c.1369C= (p.Leu457=)
c.1354C= (p.Leu452=)
c.*81C= (n.*81C=)
n.1358C=
c.733C= (p.Leu245=)
c.1222C= (p.Leu408=)
c.819C= (n.819C=)
c.568C= (p.Leu190=)
c.319+2327C=
11g.71435485G>TCA381700878DHCR7c.1318C>A (p.Leu440Met)
c.1144C>A (p.Leu382Met)
c.1369C>A (p.Leu457Met)
c.1354C>A (p.Leu452Met)
c.*81C>A (n.*81C>A)
n.1358C>A
c.733C>A (p.Leu245Met)
c.1222C>A (p.Leu408Met)
c.819C>A (n.819C>A)
c.568C>A (p.Leu190Met)
c.319+2327C>A
11g.71435486C>ACA475566045DHCR7c.1317G>T (p.Leu439=)
c.1143G>T (p.Leu381=)
c.1368G>T (p.Leu456=)
c.1353G>T (p.Leu451=)
c.*80G>T (n.*80G>T)
n.1357G>T
c.732G>T (p.Leu244=)
c.1221G>T (p.Leu407=)
c.818G>T (n.818G>T)
c.567G>T (p.Leu189=)
c.319+2326G>T
11g.71435486C>GCA475566043DHCR7c.1317G>C (p.Leu439=)
c.1143G>C (p.Leu381=)
c.1368G>C (p.Leu456=)
c.1353G>C (p.Leu451=)
c.*80G>C (n.*80G>C)
n.1357G>C
c.732G>C (p.Leu244=)
c.1221G>C (p.Leu407=)
c.818G>C (n.818G>C)
c.567G>C (p.Leu189=)
c.319+2326G>C
11g.71435486C>TCA475566041DHCR7c.1317G>A (p.Leu439=)
c.1143G>A (p.Leu381=)
c.1368G>A (p.Leu456=)
c.1353G>A (p.Leu451=)
c.*80G>A (n.*80G>A)
n.1357G>A
c.732G>A (p.Leu244=)
c.1221G>A (p.Leu407=)
c.818G>A (n.818G>A)
c.567G>A (p.Leu189=)
c.319+2326G>A
11g.71435487A>CCA381700881DHCR7c.1316T>G (p.Leu439Arg)
c.1142T>G (p.Leu381Arg)
c.1367T>G (p.Leu456Arg)
c.1352T>G (p.Leu451Arg)
c.*79T>G (n.*79T>G)
n.1356T>G
c.731T>G (p.Leu244Arg)
c.1220T>G (p.Leu407Arg)
c.817T>G (n.817T>G)
c.566T>G (p.Leu189Arg)
c.319+2325T>G
11g.71435487A>GCA381700884DHCR7c.1316T>C (p.Leu439Pro)
c.1142T>C (p.Leu381Pro)
c.1367T>C (p.Leu456Pro)
c.1352T>C (p.Leu451Pro)
c.*79T>C (n.*79T>C)
n.1356T>C
c.731T>C (p.Leu244Pro)
c.1220T>C (p.Leu407Pro)
c.817T>C (n.817T>C)
c.566T>C (p.Leu189Pro)
c.319+2325T>C
11g.71435487A>TCA381700885DHCR7c.1316T>A (p.Leu439Gln)
c.1142T>A (p.Leu381Gln)
c.1367T>A (p.Leu456Gln)
c.1352T>A (p.Leu451Gln)
c.*79T>A (n.*79T>A)
n.1356T>A
c.731T>A (p.Leu244Gln)
c.1220T>A (p.Leu407Gln)
c.817T>A (n.817T>A)
c.566T>A (p.Leu189Gln)
c.319+2325T>A
11g.71435488G>ACA475566050DHCR7c.1315C>T (p.Leu439=)
c.1141C>T (p.Leu381=)
c.1366C>T (p.Leu456=)
c.1351C>T (p.Leu451=)
c.*78C>T (n.*78C>T)
n.1355C>T
c.730C>T (p.Leu244=)
c.1219C>T (p.Leu407=)
c.816C>T (n.816C>T)
c.565C>T (p.Leu189=)
c.319+2324C>T
 ClinVar dbSNP
11g.71435488G>CCA381700887DHCR7c.1315C>G (p.Leu439Val)
c.1141C>G (p.Leu381Val)
c.1366C>G (p.Leu456Val)
c.1351C>G (p.Leu451Val)
c.*78C>G (n.*78C>G)
n.1355C>G
c.730C>G (p.Leu244Val)
c.1219C>G (p.Leu407Val)
c.816C>G (n.816C>G)
c.565C>G (p.Leu189Val)
c.319+2324C>G
11g.71435488G>TCA381700889DHCR7c.1315C>A (p.Leu439Met)
c.1141C>A (p.Leu381Met)
c.1366C>A (p.Leu456Met)
c.1351C>A (p.Leu451Met)
c.*78C>A (n.*78C>A)
n.1355C>A
c.730C>A (p.Leu244Met)
c.1219C>A (p.Leu407Met)
c.816C>A (n.816C>A)
c.565C>A (p.Leu189Met)
c.319+2324C>A
 gnomAD v4
11g.71435489G>ACA475566051DHCR7c.1314C>T (p.Ile438=)
c.1140C>T (p.Ile380=)
c.1365C>T (p.Ile455=)
c.1350C>T (p.Ile450=)
c.*77C>T (n.*77C>T)
n.1354C>T
c.729C>T (p.Ile243=)
c.1218C>T (p.Ile406=)
c.815C>T (n.815C>T)
c.564C>T (p.Ile188=)
c.319+2323C>T
 ClinVar dbSNP gnomAD v4
11g.71435489G>CCA6162266DHCR7c.1314C>G (p.Ile438Met)
c.1140C>G (p.Ile380Met)
c.1365C>G (p.Ile455Met)
c.1350C>G (p.Ile450Met)
c.*77C>G (n.*77C>G)
n.1354C>G
c.729C>G (p.Ile243Met)
c.1218C>G (p.Ile406Met)
c.815C>G (n.815C>G)
c.564C>G (p.Ile188Met)
c.319+2323C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71435489G=CA1981486846DHCR7c.1314C= (p.Ile438=)
c.1140C= (p.Ile380=)
c.1365C= (p.Ile455=)
c.1350C= (p.Ile450=)
c.*77C= (n.*77C=)
n.1354C=
c.729C= (p.Ile243=)
c.1218C= (p.Ile406=)
c.815C= (n.815C=)
c.564C= (p.Ile188=)
c.319+2323C=
11g.71435489G>TCA475566052DHCR7c.1314C>A (p.Ile438=)
c.1140C>A (p.Ile380=)
c.1365C>A (p.Ile455=)
c.1350C>A (p.Ile450=)
c.*77C>A (n.*77C>A)
n.1354C>A
c.729C>A (p.Ile243=)
c.1218C>A (p.Ile406=)
c.815C>A (n.815C>A)
c.564C>A (p.Ile188=)
c.319+2323C>A
11g.71435490A>CCA381700894DHCR7c.1313T>G (p.Ile438Ser)
c.1139T>G (p.Ile380Ser)
c.1364T>G (p.Ile455Ser)
c.1349T>G (p.Ile450Ser)
c.*76T>G (n.*76T>G)
n.1353T>G
c.728T>G (p.Ile243Ser)
c.1217T>G (p.Ile406Ser)
c.814T>G (n.814T>G)
c.563T>G (p.Ile188Ser)
c.319+2322T>G
 gnomAD v4
11g.71435490A>GCA381700897DHCR7c.1313T>C (p.Ile438Thr)
c.1139T>C (p.Ile380Thr)
c.1364T>C (p.Ile455Thr)
c.1349T>C (p.Ile450Thr)
c.*76T>C (n.*76T>C)
n.1353T>C
c.728T>C (p.Ile243Thr)
c.1217T>C (p.Ile406Thr)
c.814T>C (n.814T>C)
c.563T>C (p.Ile188Thr)
c.319+2322T>C
11g.71435490A>TCA381700896DHCR7c.1313T>A (p.Ile438Asn)
c.1139T>A (p.Ile380Asn)
c.1364T>A (p.Ile455Asn)
c.1349T>A (p.Ile450Asn)
c.*76T>A (n.*76T>A)
n.1353T>A
c.728T>A (p.Ile243Asn)
c.1217T>A (p.Ile406Asn)
c.814T>A (n.814T>A)
c.563T>A (p.Ile188Asn)
c.319+2322T>A
11g.71435491T>ACA381700901DHCR7c.1312A>T (p.Ile438Phe)
c.1138A>T (p.Ile380Phe)
c.1363A>T (p.Ile455Phe)
c.1348A>T (p.Ile450Phe)
c.*75A>T (n.*75A>T)
n.1352A>T
c.727A>T (p.Ile243Phe)
c.1216A>T (p.Ile406Phe)
c.813A>T (n.813A>T)
c.562A>T (p.Ile188Phe)
c.319+2321A>T
11g.71435491T>CCA381700903DHCR7c.1312A>G (p.Ile438Val)
c.1138A>G (p.Ile380Val)
c.1363A>G (p.Ile455Val)
c.1348A>G (p.Ile450Val)
c.*75A>G (n.*75A>G)
n.1352A>G
c.727A>G (p.Ile243Val)
c.1216A>G (p.Ile406Val)
c.813A>G (n.813A>G)
c.562A>G (p.Ile188Val)
c.319+2321A>G
11g.71435491T>GCA381700905DHCR7c.1312A>C (p.Ile438Leu)
c.1138A>C (p.Ile380Leu)
c.1363A>C (p.Ile455Leu)
c.1348A>C (p.Ile450Leu)
c.*75A>C (n.*75A>C)
n.1352A>C
c.727A>C (p.Ile243Leu)
c.1216A>C (p.Ile406Leu)
c.813A>C (n.813A>C)
c.562A>C (p.Ile188Leu)
c.319+2321A>C
11g.71435492G>ACA475566061DHCR7c.1311C>T (p.Ala437=)
c.1137C>T (p.Ala379=)
c.1362C>T (p.Ala454=)
c.1347C>T (p.Ala449=)
c.*74C>T (n.*74C>T)
n.1351C>T
c.726C>T (p.Ala242=)
c.1215C>T (p.Ala405=)
c.812C>T (n.812C>T)
c.561C>T (p.Ala187=)
c.319+2320C>T
11g.71435492G>CCA475566063DHCR7c.1311C>G (p.Ala437=)
c.1137C>G (p.Ala379=)
c.1362C>G (p.Ala454=)
c.1347C>G (p.Ala449=)
c.*74C>G (n.*74C>G)
n.1351C>G
c.726C>G (p.Ala242=)
c.1215C>G (p.Ala405=)
c.812C>G (n.812C>G)
c.561C>G (p.Ala187=)
c.319+2320C>G
11g.71435492G>TCA475566065DHCR7c.1311C>A (p.Ala437=)
c.1137C>A (p.Ala379=)
c.1362C>A (p.Ala454=)
c.1347C>A (p.Ala449=)
c.*74C>A (n.*74C>A)
n.1351C>A
c.726C>A (p.Ala242=)
c.1215C>A (p.Ala405=)
c.812C>A (n.812C>A)
c.561C>A (p.Ala187=)
c.319+2320C>A
 gnomAD v4
11g.71435493G>ACA381700908DHCR7c.1310C>T (p.Ala437Val)
c.1136C>T (p.Ala379Val)
c.1361C>T (p.Ala454Val)
c.1346C>T (p.Ala449Val)
c.*73C>T (n.*73C>T)
n.1350C>T
c.725C>T (p.Ala242Val)
c.1214C>T (p.Ala405Val)
c.811C>T (n.811C>T)
c.560C>T (p.Ala187Val)
c.319+2319C>T
 gnomAD v4
11g.71435493G>CCA381700911DHCR7c.1310C>G (p.Ala437Gly)
c.1136C>G (p.Ala379Gly)
c.1361C>G (p.Ala454Gly)
c.1346C>G (p.Ala449Gly)
c.*73C>G (n.*73C>G)
n.1350C>G
c.725C>G (p.Ala242Gly)
c.1214C>G (p.Ala405Gly)
c.811C>G (n.811C>G)
c.560C>G (p.Ala187Gly)
c.319+2319C>G
11g.71435493G>TCA381700913DHCR7c.1310C>A (p.Ala437Asp)
c.1136C>A (p.Ala379Asp)
c.1361C>A (p.Ala454Asp)
c.1346C>A (p.Ala449Asp)
c.*73C>A (n.*73C>A)
n.1350C>A
c.725C>A (p.Ala242Asp)
c.1214C>A (p.Ala405Asp)
c.811C>A (n.811C>A)
c.560C>A (p.Ala187Asp)
c.319+2319C>A
11g.71435494C>ACA381700917DHCR7c.1309G>T (p.Ala437Ser)
c.1135G>T (p.Ala379Ser)
c.1360G>T (p.Ala454Ser)
c.1345G>T (p.Ala449Ser)
c.*72G>T (n.*72G>T)
n.1349G>T
c.724G>T (p.Ala242Ser)
c.1213G>T (p.Ala405Ser)
c.810G>T (n.810G>T)
c.559G>T (p.Ala187Ser)
c.319+2318G>T
11g.71435494C=CA1981486847DHCR7c.1309G= (p.Ala437=)
c.1135G= (p.Ala379=)
c.1360G= (p.Ala454=)
c.1345G= (p.Ala449=)
c.*72G= (n.*72G=)
n.1349G=
c.724G= (p.Ala242=)
c.1213G= (p.Ala405=)
c.810G= (n.810G=)
c.559G= (p.Ala187=)
c.319+2318G=
11g.71435494C>GCA381700919DHCR7c.1309G>C (p.Ala437Pro)
c.1135G>C (p.Ala379Pro)
c.1360G>C (p.Ala454Pro)
c.1345G>C (p.Ala449Pro)
c.*72G>C (n.*72G>C)
n.1349G>C
c.724G>C (p.Ala242Pro)
c.1213G>C (p.Ala405Pro)
c.810G>C (n.810G>C)
c.559G>C (p.Ala187Pro)
c.319+2318G>C
11g.71435494C>TCA381700921DHCR7c.1309G>A (p.Ala437Thr)
c.1135G>A (p.Ala379Thr)
c.1360G>A (p.Ala454Thr)
c.1345G>A (p.Ala449Thr)
c.*72G>A (n.*72G>A)
n.1349G>A
c.724G>A (p.Ala242Thr)
c.1213G>A (p.Ala405Thr)
c.810G>A (n.810G>A)
c.559G>A (p.Ala187Thr)
c.319+2318G>A
 dbSNP gnomAD v2 gnomAD v4
11g.71435495C>ACA381700927DHCR7c.1308G>T (p.Met436Ile)
c.1134G>T (p.Met378Ile)
c.1359G>T (p.Met453Ile)
c.1344G>T (p.Met448Ile)
c.*71G>T (n.*71G>T)
n.1348G>T
c.723G>T (p.Met241Ile)
c.1212G>T (p.Met404Ile)
c.809G>T (n.809G>T)
c.558G>T (p.Met186Ile)
c.319+2317G>T
11g.71435495C>GCA381700930DHCR7c.1308G>C (p.Met436Ile)
c.1134G>C (p.Met378Ile)
c.1359G>C (p.Met453Ile)
c.1344G>C (p.Met448Ile)
c.*71G>C (n.*71G>C)
n.1348G>C
c.723G>C (p.Met241Ile)
c.1212G>C (p.Met404Ile)
c.809G>C (n.809G>C)
c.558G>C (p.Met186Ile)
c.319+2317G>C
11g.71435495C>TCA381700925DHCR7c.1308G>A (p.Met436Ile)
c.1134G>A (p.Met378Ile)
c.1359G>A (p.Met453Ile)
c.1344G>A (p.Met448Ile)
c.*71G>A (n.*71G>A)
n.1348G>A
c.723G>A (p.Met241Ile)
c.1212G>A (p.Met404Ile)
c.809G>A (n.809G>A)
c.558G>A (p.Met186Ile)
c.319+2317G>A
11g.71435495_71435501delinsCATGTAGCA1981486848DHCR7c.1302_1308delinsCTACATG (p.Ile434=)
c.1128_1134delinsCTACATG (p.Ile376=)
c.1353_1359delinsCTACATG (p.Ile451=)
c.1338_1344delinsCTACATG (p.Ile446=)
c.*65_*71delinsCTACATG (n.*65_*71delinsCTACATG)
n.1342_1348delinsCTACATG
c.717_723delinsCTACATG (p.Ile239=)
c.1206_1212delinsCTACATG (p.Ile402=)
c.803_809delinsCTACATG (n.803_809delinsCTACATG)
c.552_558delinsCTACATG (p.Ile184=)
c.319+2311_319+2317delinsCTACATG
11g.71435495_71435510delinsCATGTAGATGATGTAGCA1981486849DHCR7c.1293_1308delinsCTACATCATCTACATG (p.Phe431=)
c.1119_1134delinsCTACATCATCTACATG (p.Phe373=)
c.1344_1359delinsCTACATCATCTACATG (p.Phe448=)
c.1329_1344delinsCTACATCATCTACATG (p.Phe443=)
c.*56_*71delinsCTACATCATCTACATG (n.*56_*71delinsCTACATCATCTACATG)
n.1333_1348delinsCTACATCATCTACATG
c.708_723delinsCTACATCATCTACATG (p.Phe236=)
c.1197_1212delinsCTACATCATCTACATG (p.Phe399=)
c.794_809delinsCTACATCATCTACATG (n.794_809delinsCTACATCATCTACATG)
c.543_558delinsCTACATCATCTACATG (p.Phe181=)
c.319+2302_319+2317delinsCTACATCATCTACATG
11g.71435496A=CA1981486850DHCR7c.1307T= (p.Met436=)
c.1133T= (p.Met378=)
c.1358T= (p.Met453=)
c.1343T= (p.Met448=)
c.*70T= (n.*70T=)
n.1347T=
c.722T= (p.Met241=)
c.1211T= (p.Met404=)
c.808T= (n.808T=)
c.557T= (p.Met186=)
c.319+2316T=
11g.71435496A>CCA381700931DHCR7c.1307T>G (p.Met436Arg)
c.1133T>G (p.Met378Arg)
c.1358T>G (p.Met453Arg)
c.1343T>G (p.Met448Arg)
c.*70T>G (n.*70T>G)
n.1347T>G
c.722T>G (p.Met241Arg)
c.1211T>G (p.Met404Arg)
c.808T>G (n.808T>G)
c.557T>G (p.Met186Arg)
c.319+2316T>G
11g.71435496A>GCA381700933DHCR7c.1307T>C (p.Met436Thr)
c.1133T>C (p.Met378Thr)
c.1358T>C (p.Met453Thr)
c.1343T>C (p.Met448Thr)
c.*70T>C (n.*70T>C)
n.1347T>C
c.722T>C (p.Met241Thr)
c.1211T>C (p.Met404Thr)
c.808T>C (n.808T>C)
c.557T>C (p.Met186Thr)
c.319+2316T>C
 dbSNP
11g.71435496A>TCA381700936DHCR7c.1307T>A (p.Met436Lys)
c.1133T>A (p.Met378Lys)
c.1358T>A (p.Met453Lys)
c.1343T>A (p.Met448Lys)
c.*70T>A (n.*70T>A)
n.1347T>A
c.722T>A (p.Met241Lys)
c.1211T>A (p.Met404Lys)
c.808T>A (n.808T>A)
c.557T>A (p.Met186Lys)
c.319+2316T>A
11g.71435499_71435504delCA679810496DHCR7c.1302_1307del (p.Ile434_Tyr435del)
c.1128_1133del (p.Ile376_Tyr377del)
c.1353_1358del (p.Ile451_Tyr452del)
c.1338_1343del (p.Ile446_Tyr447del)
c.*65_*70del (n.*65_*70del)
n.1342_1347del
c.717_722del (p.Ile239_Tyr240del)
c.1206_1211del (p.Ile402_Tyr403del)
c.803_808del (n.803_808del)
c.552_557del (p.Ile184_Tyr185del)
c.319+2311_319+2316del
 dbSNP
11g.71435497_71435511delCA679810499DHCR7c.1293_1307del (p.Phe431_Met436delinsLeu)
c.1119_1133del (p.Phe373_Met378delinsLeu)
c.1344_1358del (p.Phe448_Met453delinsLeu)
c.1329_1343del (p.Phe443_Met448delinsLeu)
c.*56_*70del (n.*56_*70del)
n.1333_1347del
c.708_722del (p.Phe236_Met241delinsLeu)
c.1197_1211del (p.Phe399_Met404delinsLeu)
c.794_808del (n.794_808del)
c.543_557del (p.Phe181_Met186delinsLeu)
c.319+2302_319+2316del
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71435497T>ACA381700939DHCR7c.1306A>T (p.Met436Leu)
c.1132A>T (p.Met378Leu)
c.1357A>T (p.Met453Leu)
c.1342A>T (p.Met448Leu)
c.*69A>T (n.*69A>T)
n.1346A>T
c.721A>T (p.Met241Leu)
c.1210A>T (p.Met404Leu)
c.807A>T (n.807A>T)
c.556A>T (p.Met186Leu)
c.319+2315A>T
11g.71435497T>CCA381700941DHCR7c.1306A>G (p.Met436Val)
c.1132A>G (p.Met378Val)
c.1357A>G (p.Met453Val)
c.1342A>G (p.Met448Val)
c.*69A>G (n.*69A>G)
n.1346A>G
c.721A>G (p.Met241Val)
c.1210A>G (p.Met404Val)
c.807A>G (n.807A>G)
c.556A>G (p.Met186Val)
c.319+2315A>G
 dbSNP gnomAD v2 gnomAD v4
11g.71435497T>GCA381700949DHCR7c.1306A>C (p.Met436Leu)
c.1132A>C (p.Met378Leu)
c.1357A>C (p.Met453Leu)
c.1342A>C (p.Met448Leu)
c.*69A>C (n.*69A>C)
n.1346A>C
c.721A>C (p.Met241Leu)
c.1210A>C (p.Met404Leu)
c.807A>C (n.807A>C)
c.556A>C (p.Met186Leu)
c.319+2315A>C
11g.71435497T=CA1981486851DHCR7c.1306A= (p.Met436=)
c.1132A= (p.Met378=)
c.1357A= (p.Met453=)
c.1342A= (p.Met448=)
c.*69A= (n.*69A=)
n.1346A=
c.721A= (p.Met241=)
c.1210A= (p.Met404=)
c.807A= (n.807A=)
c.556A= (p.Met186=)
c.319+2315A=
11g.71435498G>ACA475860931DHCR7c.1305C>T (p.Tyr435=)
c.1131C>T (p.Tyr377=)
c.1356C>T (p.Tyr452=)
c.1341C>T (p.Tyr447=)
c.*68C>T (n.*68C>T)
n.1345C>T
c.720C>T (p.Tyr240=)
c.1209C>T (p.Tyr403=)
c.806C>T (n.806C>T)
c.555C>T (p.Tyr185=)
c.319+2314C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71435498G>CCA381700952DHCR7c.1305C>G (p.Tyr435Ter)
c.1131C>G (p.Tyr377Ter)
c.1356C>G (p.Tyr452Ter)
c.1341C>G (p.Tyr447Ter)
c.*68C>G (n.*68C>G)
n.1345C>G
c.720C>G (p.Tyr240Ter)
c.1209C>G (p.Tyr403Ter)
c.806C>G (n.806C>G)
c.555C>G (p.Tyr185Ter)
c.319+2314C>G
11g.71435498G>TCA381700955DHCR7c.1305C>A (p.Tyr435Ter)
c.1131C>A (p.Tyr377Ter)
c.1356C>A (p.Tyr452Ter)
c.1341C>A (p.Tyr447Ter)
c.*68C>A (n.*68C>A)
n.1345C>A
c.720C>A (p.Tyr240Ter)
c.1209C>A (p.Tyr403Ter)
c.806C>A (n.806C>A)
c.555C>A (p.Tyr185Ter)
c.319+2314C>A
11g.71435499T>ACA381700958DHCR7c.1304A>T (p.Tyr435Phe)
c.1130A>T (p.Tyr377Phe)
c.1355A>T (p.Tyr452Phe)
c.1340A>T (p.Tyr447Phe)
c.*67A>T (n.*67A>T)
n.1344A>T
c.719A>T (p.Tyr240Phe)
c.1208A>T (p.Tyr403Phe)
c.805A>T (n.805A>T)
c.554A>T (p.Tyr185Phe)
c.319+2313A>T
11g.71435499T>CCA381700959DHCR7c.1304A>G (p.Tyr435Cys)
c.1130A>G (p.Tyr377Cys)
c.1355A>G (p.Tyr452Cys)
c.1340A>G (p.Tyr447Cys)
c.*67A>G (n.*67A>G)
n.1344A>G
c.719A>G (p.Tyr240Cys)
c.1208A>G (p.Tyr403Cys)
c.805A>G (n.805A>G)
c.554A>G (p.Tyr185Cys)
c.319+2313A>G
11g.71435499T>GCA381700962DHCR7c.1304A>C (p.Tyr435Ser)
c.1130A>C (p.Tyr377Ser)
c.1355A>C (p.Tyr452Ser)
c.1340A>C (p.Tyr447Ser)
c.*67A>C (n.*67A>C)
n.1344A>C
c.719A>C (p.Tyr240Ser)
c.1208A>C (p.Tyr403Ser)
c.805A>C (n.805A>C)
c.554A>C (p.Tyr185Ser)
c.319+2313A>C
11g.71435500A>CCA381700964DHCR7c.1303T>G (p.Tyr435Asp)
c.1129T>G (p.Tyr377Asp)
c.1354T>G (p.Tyr452Asp)
c.1339T>G (p.Tyr447Asp)
c.*66T>G (n.*66T>G)
n.1343T>G
c.718T>G (p.Tyr240Asp)
c.1207T>G (p.Tyr403Asp)
c.804T>G (n.804T>G)
c.553T>G (p.Tyr185Asp)
c.319+2312T>G
11g.71435500A>GCA381700973DHCR7c.1303T>C (p.Tyr435His)
c.1129T>C (p.Tyr377His)
c.1354T>C (p.Tyr452His)
c.1339T>C (p.Tyr447His)
c.*66T>C (n.*66T>C)
n.1343T>C
c.718T>C (p.Tyr240His)
c.1207T>C (p.Tyr403His)
c.804T>C (n.804T>C)
c.553T>C (p.Tyr185His)
c.319+2312T>C
11g.71435500A>TCA381700963DHCR7c.1303T>A (p.Tyr435Asn)
c.1129T>A (p.Tyr377Asn)
c.1354T>A (p.Tyr452Asn)
c.1339T>A (p.Tyr447Asn)
c.*66T>A (n.*66T>A)
n.1343T>A
c.718T>A (p.Tyr240Asn)
c.1207T>A (p.Tyr403Asn)
c.804T>A (n.804T>A)
c.553T>A (p.Tyr185Asn)
c.319+2312T>A
11g.71435501G>ACA475860932DHCR7c.1302C>T (p.Ile434=)
c.1128C>T (p.Ile376=)
c.1353C>T (p.Ile451=)
c.1338C>T (p.Ile446=)
c.*65C>T (n.*65C>T)
n.1342C>T
c.717C>T (p.Ile239=)
c.1206C>T (p.Ile402=)
c.803C>T (n.803C>T)
c.552C>T (p.Ile184=)
c.319+2311C>T
 dbSNP gnomAD v4
11g.71435501G>CCA381700977DHCR7c.1302C>G (p.Ile434Met)
c.1128C>G (p.Ile376Met)
c.1353C>G (p.Ile451Met)
c.1338C>G (p.Ile446Met)
c.*65C>G (n.*65C>G)
n.1342C>G
c.717C>G (p.Ile239Met)
c.1206C>G (p.Ile402Met)
c.803C>G (n.803C>G)
c.552C>G (p.Ile184Met)
c.319+2311C>G
 gnomAD v4
11g.71435501G=CA1981486852DHCR7c.1302C= (p.Ile434=)
c.1128C= (p.Ile376=)
c.1353C= (p.Ile451=)
c.1338C= (p.Ile446=)
c.*65C= (n.*65C=)
n.1342C=
c.717C= (p.Ile239=)
c.1206C= (p.Ile402=)
c.803C= (n.803C=)
c.552C= (p.Ile184=)
c.319+2311C=
11g.71435501G>TCA475860933DHCR7c.1302C>A (p.Ile434=)
c.1128C>A (p.Ile376=)
c.1353C>A (p.Ile451=)
c.1338C>A (p.Ile446=)
c.*65C>A (n.*65C>A)
n.1342C>A
c.717C>A (p.Ile239=)
c.1206C>A (p.Ile402=)
c.803C>A (n.803C>A)
c.552C>A (p.Ile184=)
c.319+2311C>A
 gnomAD v4
11g.71435502A>CCA381700980DHCR7c.1301T>G (p.Ile434Ser)
c.1127T>G (p.Ile376Ser)
c.1352T>G (p.Ile451Ser)
c.1337T>G (p.Ile446Ser)
c.*64T>G (n.*64T>G)
n.1341T>G
c.716T>G (p.Ile239Ser)
c.1205T>G (p.Ile402Ser)
c.802T>G (n.802T>G)
c.551T>G (p.Ile184Ser)
c.319+2310T>G
11g.71435502A>GCA381700981DHCR7c.1301T>C (p.Ile434Thr)
c.1127T>C (p.Ile376Thr)
c.1352T>C (p.Ile451Thr)
c.1337T>C (p.Ile446Thr)
c.*64T>C (n.*64T>C)
n.1341T>C
c.716T>C (p.Ile239Thr)
c.1205T>C (p.Ile402Thr)
c.802T>C (n.802T>C)
c.551T>C (p.Ile184Thr)
c.319+2310T>C
11g.71435502A>TCA381700983DHCR7c.1301T>A (p.Ile434Asn)
c.1127T>A (p.Ile376Asn)
c.1352T>A (p.Ile451Asn)
c.1337T>A (p.Ile446Asn)
c.*64T>A (n.*64T>A)
n.1341T>A
c.716T>A (p.Ile239Asn)
c.1205T>A (p.Ile402Asn)
c.802T>A (n.802T>A)
c.551T>A (p.Ile184Asn)
c.319+2310T>A
11g.71435503T>ACA381700988DHCR7c.1300A>T (p.Ile434Phe)
c.1126A>T (p.Ile376Phe)
c.1351A>T (p.Ile451Phe)
c.1336A>T (p.Ile446Phe)
c.*63A>T (n.*63A>T)
n.1340A>T
c.715A>T (p.Ile239Phe)
c.1204A>T (p.Ile402Phe)
c.801A>T (n.801A>T)
c.550A>T (p.Ile184Phe)
c.319+2309A>T
11g.71435503T>CCA224324006DHCR7c.1300A>G (p.Ile434Val)
c.1126A>G (p.Ile376Val)
c.1351A>G (p.Ile451Val)
c.1336A>G (p.Ile446Val)
c.*63A>G (n.*63A>G)
n.1340A>G
c.715A>G (p.Ile239Val)
c.1204A>G (p.Ile402Val)
c.801A>G (n.801A>G)
c.550A>G (p.Ile184Val)
c.319+2309A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71435503T>GCA381700985DHCR7c.1300A>C (p.Ile434Leu)
c.1126A>C (p.Ile376Leu)
c.1351A>C (p.Ile451Leu)
c.1336A>C (p.Ile446Leu)
c.*63A>C (n.*63A>C)
n.1340A>C
c.715A>C (p.Ile239Leu)
c.1204A>C (p.Ile402Leu)
c.801A>C (n.801A>C)
c.550A>C (p.Ile184Leu)
c.319+2309A>C
11g.71435503T=CA1981486853DHCR7c.1300A= (p.Ile434=)
c.1126A= (p.Ile376=)
c.1351A= (p.Ile451=)
c.1336A= (p.Ile446=)
c.*63A= (n.*63A=)
n.1340A=
c.715A= (p.Ile239=)
c.1204A= (p.Ile402=)
c.801A= (n.801A=)
c.550A= (p.Ile184=)
c.319+2309A=
11g.71435504G>ACA475860935DHCR7c.1299C>T (p.Ile433=)
c.1125C>T (p.Ile375=)
c.1350C>T (p.Ile450=)
c.1335C>T (p.Ile445=)
c.*62C>T (n.*62C>T)
n.1339C>T
c.714C>T (p.Ile238=)
c.1203C>T (p.Ile401=)
c.800C>T (n.800C>T)
c.549C>T (p.Ile183=)
c.319+2308C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435504G>CCA381700991DHCR7c.1299C>G (p.Ile433Met)
c.1125C>G (p.Ile375Met)
c.1350C>G (p.Ile450Met)
c.1335C>G (p.Ile445Met)
c.*62C>G (n.*62C>G)
n.1339C>G
c.714C>G (p.Ile238Met)
c.1203C>G (p.Ile401Met)
c.800C>G (n.800C>G)
c.549C>G (p.Ile183Met)
c.319+2308C>G
11g.71435504G=CA1981486854DHCR7c.1299C= (p.Ile433=)
c.1125C= (p.Ile375=)
c.1350C= (p.Ile450=)
c.1335C= (p.Ile445=)
c.*62C= (n.*62C=)
n.1339C=
c.714C= (p.Ile238=)
c.1203C= (p.Ile401=)
c.800C= (n.800C=)
c.549C= (p.Ile183=)
c.319+2308C=
11g.71435504G>TCA475860936DHCR7c.1299C>A (p.Ile433=)
c.1125C>A (p.Ile375=)
c.1350C>A (p.Ile450=)
c.1335C>A (p.Ile445=)
c.*62C>A (n.*62C>A)
n.1339C>A
c.714C>A (p.Ile238=)
c.1203C>A (p.Ile401=)
c.800C>A (n.800C>A)
c.549C>A (p.Ile183=)
c.319+2308C>A
11g.71435505A>CCA381700995DHCR7c.1298T>G (p.Ile433Ser)
c.1124T>G (p.Ile375Ser)
c.1349T>G (p.Ile450Ser)
c.1334T>G (p.Ile445Ser)
c.*61T>G (n.*61T>G)
n.1338T>G
c.713T>G (p.Ile238Ser)
c.1202T>G (p.Ile401Ser)
c.799T>G (n.799T>G)
c.548T>G (p.Ile183Ser)
c.319+2307T>G
11g.71435505A>GCA381700997DHCR7c.1298T>C (p.Ile433Thr)
c.1124T>C (p.Ile375Thr)
c.1349T>C (p.Ile450Thr)
c.1334T>C (p.Ile445Thr)
c.*61T>C (n.*61T>C)
n.1338T>C
c.713T>C (p.Ile238Thr)
c.1202T>C (p.Ile401Thr)
c.799T>C (n.799T>C)
c.548T>C (p.Ile183Thr)
c.319+2307T>C
11g.71435505A>TCA381701000DHCR7c.1298T>A (p.Ile433Asn)
c.1124T>A (p.Ile375Asn)
c.1349T>A (p.Ile450Asn)
c.1334T>A (p.Ile445Asn)
c.*61T>A (n.*61T>A)
n.1338T>A
c.713T>A (p.Ile238Asn)
c.1202T>A (p.Ile401Asn)
c.799T>A (n.799T>A)
c.548T>A (p.Ile183Asn)
c.319+2307T>A
11g.71435506T>ACA381701002DHCR7c.1297A>T (p.Ile433Phe)
c.1123A>T (p.Ile375Phe)
c.1348A>T (p.Ile450Phe)
c.1333A>T (p.Ile445Phe)
c.*60A>T (n.*60A>T)
n.1337A>T
c.712A>T (p.Ile238Phe)
c.1201A>T (p.Ile401Phe)
c.798A>T (n.798A>T)
c.547A>T (p.Ile183Phe)
c.319+2306A>T
11g.71435506T>CCA381701004DHCR7c.1297A>G (p.Ile433Val)
c.1123A>G (p.Ile375Val)
c.1348A>G (p.Ile450Val)
c.1333A>G (p.Ile445Val)
c.*60A>G (n.*60A>G)
n.1337A>G
c.712A>G (p.Ile238Val)
c.1201A>G (p.Ile401Val)
c.798A>G (n.798A>G)
c.547A>G (p.Ile183Val)
c.319+2306A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435506T>GCA381701006DHCR7c.1297A>C (p.Ile433Leu)
c.1123A>C (p.Ile375Leu)
c.1348A>C (p.Ile450Leu)
c.1333A>C (p.Ile445Leu)
c.*60A>C (n.*60A>C)
n.1337A>C
c.712A>C (p.Ile238Leu)
c.1201A>C (p.Ile401Leu)
c.798A>C (n.798A>C)
c.547A>C (p.Ile183Leu)
c.319+2306A>C
11g.71435506T=CA1981486855DHCR7c.1297A= (p.Ile433=)
c.1123A= (p.Ile375=)
c.1348A= (p.Ile450=)
c.1333A= (p.Ile445=)
c.*60A= (n.*60A=)
n.1337A=
c.712A= (p.Ile238=)
c.1201A= (p.Ile401=)
c.798A= (n.798A=)
c.547A= (p.Ile183=)
c.319+2306A=
11g.71435507G>ACA475860938DHCR7c.1296C>T (p.Tyr432=)
c.1122C>T (p.Tyr374=)
c.1347C>T (p.Tyr449=)
c.1332C>T (p.Tyr444=)
c.*59C>T (n.*59C>T)
n.1336C>T
c.711C>T (p.Tyr237=)
c.1200C>T (p.Tyr400=)
c.797C>T (n.797C>T)
c.546C>T (p.Tyr182=)
c.319+2305C>T
 gnomAD v4
11g.71435507G>CCA381701008DHCR7c.1296C>G (p.Tyr432Ter)
c.1122C>G (p.Tyr374Ter)
c.1347C>G (p.Tyr449Ter)
c.1332C>G (p.Tyr444Ter)
c.*59C>G (n.*59C>G)
n.1336C>G
c.711C>G (p.Tyr237Ter)
c.1200C>G (p.Tyr400Ter)
c.797C>G (n.797C>G)
c.546C>G (p.Tyr182Ter)
c.319+2305C>G
11g.71435507G>TCA381701011DHCR7c.1296C>A (p.Tyr432Ter)
c.1122C>A (p.Tyr374Ter)
c.1347C>A (p.Tyr449Ter)
c.1332C>A (p.Tyr444Ter)
c.*59C>A (n.*59C>A)
n.1336C>A
c.711C>A (p.Tyr237Ter)
c.1200C>A (p.Tyr400Ter)
c.797C>A (n.797C>A)
c.546C>A (p.Tyr182Ter)
c.319+2305C>A
 gnomAD v4
11g.71435508T>ACA381701014DHCR7c.1295A>T (p.Tyr432Phe)
c.1121A>T (p.Tyr374Phe)
c.1346A>T (p.Tyr449Phe)
c.1331A>T (p.Tyr444Phe)
c.*58A>T (n.*58A>T)
n.1335A>T
c.710A>T (p.Tyr237Phe)
c.1199A>T (p.Tyr400Phe)
c.796A>T (n.796A>T)
c.545A>T (p.Tyr182Phe)
c.319+2304A>T
 ClinVar dbSNP
11g.71435508T>CCA381701018DHCR7c.1295A>G (p.Tyr432Cys)
c.1121A>G (p.Tyr374Cys)
c.1346A>G (p.Tyr449Cys)
c.1331A>G (p.Tyr444Cys)
c.*58A>G (n.*58A>G)
n.1335A>G
c.710A>G (p.Tyr237Cys)
c.1199A>G (p.Tyr400Cys)
c.796A>G (n.796A>G)
c.545A>G (p.Tyr182Cys)
c.319+2304A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71435508T>GCA381701016DHCR7c.1295A>C (p.Tyr432Ser)
c.1121A>C (p.Tyr374Ser)
c.1346A>C (p.Tyr449Ser)
c.1331A>C (p.Tyr444Ser)
c.*58A>C (n.*58A>C)
n.1335A>C
c.710A>C (p.Tyr237Ser)
c.1199A>C (p.Tyr400Ser)
c.796A>C (n.796A>C)
c.545A>C (p.Tyr182Ser)
c.319+2304A>C
 gnomAD v4
11g.71435508T=CA1981486856DHCR7c.1295A= (p.Tyr432=)
c.1121A= (p.Tyr374=)
c.1346A= (p.Tyr449=)
c.1331A= (p.Tyr444=)
c.*58A= (n.*58A=)
n.1335A=
c.710A= (p.Tyr237=)
c.1199A= (p.Tyr400=)
c.796A= (n.796A=)
c.545A= (p.Tyr182=)
c.319+2304A=
11g.71435509A=CA1981486857DHCR7c.1294T= (p.Tyr432=)
c.1120T= (p.Tyr374=)
c.1345T= (p.Tyr449=)
c.1330T= (p.Tyr444=)
c.*57T= (n.*57T=)
n.1334T=
c.709T= (p.Tyr237=)
c.1198T= (p.Tyr400=)
c.795T= (n.795T=)
c.544T= (p.Tyr182=)
c.319+2303T=
11g.71435509A>CCA381701022DHCR7c.1294T>G (p.Tyr432Asp)
c.1120T>G (p.Tyr374Asp)
c.1345T>G (p.Tyr449Asp)
c.1330T>G (p.Tyr444Asp)
c.*57T>G (n.*57T>G)
n.1334T>G
c.709T>G (p.Tyr237Asp)
c.1198T>G (p.Tyr400Asp)
c.795T>G (n.795T>G)
c.544T>G (p.Tyr182Asp)
c.319+2303T>G
 dbSNP
11g.71435509A>GCA6162267DHCR7c.1294T>C (p.Tyr432His)
c.1120T>C (p.Tyr374His)
c.1345T>C (p.Tyr449His)
c.1330T>C (p.Tyr444His)
c.*57T>C (n.*57T>C)
n.1334T>C
c.709T>C (p.Tyr237His)
c.1198T>C (p.Tyr400His)
c.795T>C (n.795T>C)
c.544T>C (p.Tyr182His)
c.319+2303T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435509A>TCA381701023DHCR7c.1294T>A (p.Tyr432Asn)
c.1120T>A (p.Tyr374Asn)
c.1345T>A (p.Tyr449Asn)
c.1330T>A (p.Tyr444Asn)
c.*57T>A (n.*57T>A)
n.1334T>A
c.709T>A (p.Tyr237Asn)
c.1198T>A (p.Tyr400Asn)
c.795T>A (n.795T>A)
c.544T>A (p.Tyr182Asn)
c.319+2303T>A
11g.71435510G>ACA6162268DHCR7c.1293C>T (p.Phe431=)
c.1119C>T (p.Phe373=)
c.1344C>T (p.Phe448=)
c.1329C>T (p.Phe443=)
c.*56C>T (n.*56C>T)
n.1333C>T
c.708C>T (p.Phe236=)
c.1197C>T (p.Phe399=)
c.794C>T (n.794C>T)
c.543C>T (p.Phe181=)
c.319+2302C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71435510G>CCA381701030DHCR7c.1293C>G (p.Phe431Leu)
c.1119C>G (p.Phe373Leu)
c.1344C>G (p.Phe448Leu)
c.1329C>G (p.Phe443Leu)
c.*56C>G (n.*56C>G)
n.1333C>G
c.708C>G (p.Phe236Leu)
c.1197C>G (p.Phe399Leu)
c.794C>G (n.794C>G)
c.543C>G (p.Phe181Leu)
c.319+2302C>G
 COSMIC COSMIC
11g.71435510G=CA1981486858DHCR7c.1293C= (p.Phe431=)
c.1119C= (p.Phe373=)
c.1344C= (p.Phe448=)
c.1329C= (p.Phe443=)
c.*56C= (n.*56C=)
n.1333C=
c.708C= (p.Phe236=)
c.1197C= (p.Phe399=)
c.794C= (n.794C=)
c.543C= (p.Phe181=)
c.319+2302C=
11g.71435510G>TCA381701027DHCR7c.1293C>A (p.Phe431Leu)
c.1119C>A (p.Phe373Leu)
c.1344C>A (p.Phe448Leu)
c.1329C>A (p.Phe443Leu)
c.*56C>A (n.*56C>A)
n.1333C>A
c.708C>A (p.Phe236Leu)
c.1197C>A (p.Phe399Leu)
c.794C>A (n.794C>A)
c.543C>A (p.Phe181Leu)
c.319+2302C>A
 gnomAD v4
11g.71435511A>CCA381701033DHCR7c.1292T>G (p.Phe431Cys)
c.1118T>G (p.Phe373Cys)
c.1343T>G (p.Phe448Cys)
c.1328T>G (p.Phe443Cys)
c.*55T>G (n.*55T>G)
n.1332T>G
c.707T>G (p.Phe236Cys)
c.1196T>G (p.Phe399Cys)
c.793T>G (n.793T>G)
c.542T>G (p.Phe181Cys)
c.319+2301T>G
11g.71435511A>GCA381701035DHCR7c.1292T>C (p.Phe431Ser)
c.1118T>C (p.Phe373Ser)
c.1343T>C (p.Phe448Ser)
c.1328T>C (p.Phe443Ser)
c.*55T>C (n.*55T>C)
n.1332T>C
c.707T>C (p.Phe236Ser)
c.1196T>C (p.Phe399Ser)
c.793T>C (n.793T>C)
c.542T>C (p.Phe181Ser)
c.319+2301T>C
11g.71435511A>TCA381701038DHCR7c.1292T>A (p.Phe431Tyr)
c.1118T>A (p.Phe373Tyr)
c.1343T>A (p.Phe448Tyr)
c.1328T>A (p.Phe443Tyr)
c.*55T>A (n.*55T>A)
n.1332T>A
c.707T>A (p.Phe236Tyr)
c.1196T>A (p.Phe399Tyr)
c.793T>A (n.793T>A)
c.542T>A (p.Phe181Tyr)
c.319+2301T>A
 gnomAD v4
11g.71435512A=CA1981486859DHCR7c.1291T= (p.Phe431=)
c.1117T= (p.Phe373=)
c.1342T= (p.Phe448=)
c.1327T= (p.Phe443=)
c.*54T= (n.*54T=)
n.1331T=
c.706T= (p.Phe236=)
c.1195T= (p.Phe399=)
c.792T= (n.792T=)
c.541T= (p.Phe181=)
c.319+2300T=
11g.71435512A>CCA381701039DHCR7c.1291T>G (p.Phe431Val)
c.1117T>G (p.Phe373Val)
c.1342T>G (p.Phe448Val)
c.1327T>G (p.Phe443Val)
c.*54T>G (n.*54T>G)
n.1331T>G
c.706T>G (p.Phe236Val)
c.1195T>G (p.Phe399Val)
c.792T>G (n.792T>G)
c.541T>G (p.Phe181Val)
c.319+2300T>G
11g.71435512A>GCA381701042DHCR7c.1291T>C (p.Phe431Leu)
c.1117T>C (p.Phe373Leu)
c.1342T>C (p.Phe448Leu)
c.1327T>C (p.Phe443Leu)
c.*54T>C (n.*54T>C)
n.1331T>C
c.706T>C (p.Phe236Leu)
c.1195T>C (p.Phe399Leu)
c.792T>C (n.792T>C)
c.541T>C (p.Phe181Leu)
c.319+2300T>C
 dbSNP gnomAD v2 gnomAD v4
11g.71435512A>TCA381701046DHCR7c.1291T>A (p.Phe431Ile)
c.1117T>A (p.Phe373Ile)
c.1342T>A (p.Phe448Ile)
c.1327T>A (p.Phe443Ile)
c.*54T>A (n.*54T>A)
n.1331T>A
c.706T>A (p.Phe236Ile)
c.1195T>A (p.Phe399Ile)
c.792T>A (n.792T>A)
c.541T>A (p.Phe181Ile)
c.319+2300T>A
11g.71435513G>ACA475860942DHCR7c.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
11g.71435513G>CCA6162269DHCR7c.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
11g.71435513G=CA1981486860DHCR7c.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=
11g.71435513G>TCA381701050DHCR7c.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
11g.71435514T>ACA381701053DHCR7c.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
11g.71435514T>CCA381701055DHCR7c.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
11g.71435514T>GCA381701057DHCR7c.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
11g.71435514T=CA1981486861DHCR7c.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=
11g.71435515A>CCA381701065DHCR7c.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
11g.71435515A>GCA381701059DHCR7c.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
11g.71435515A>TCA381701061DHCR7c.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

Number of alleles fetched