ClinVar Miner

List of variants in gene CYP27A1 studied for Cholestanol storage disease

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Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NM_000784.3(CYP27A1):c.-162C>T rs886055629
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-205C>A rs187723732
NM_000784.3(CYP27A1):c.-335C>T rs528284503
NM_000784.3(CYP27A1):c.-357dupC rs397795841
NM_000784.3(CYP27A1):c.-370T>C rs182545847
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*195G>C rs886055632
NM_000784.4(CYP27A1):c.*209G>A
NM_000784.4(CYP27A1):c.*47G>A rs140059093
NM_000784.4(CYP27A1):c.-6C>T rs199891090
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1017+1G>A
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) rs72551320
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=)
NM_000784.4(CYP27A1):c.1086C>T (p.His362=)
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=)
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=)
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_000784.4(CYP27A1):c.1184+3A>G
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779
NM_000784.4(CYP27A1):c.1185-1G>T rs587778779
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>G
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1185-4G>A
NM_000784.4(CYP27A1):c.1185-4G>T
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=)
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) rs587778780
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=)
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) rs587778782
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) rs587778783
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=)
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=)
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1264-6T>C
NM_000784.4(CYP27A1):c.1264-8C>T
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=)
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=)
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=)
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=)
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) rs587778787
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=)
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=)
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=)
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101
NM_000784.4(CYP27A1):c.1477-5C>T
NM_000784.4(CYP27A1):c.1477-8C>T
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=)
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935
NM_000784.4(CYP27A1):c.150C>T (p.Val50=)
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=)
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=)
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=)
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=)
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
NM_000784.4(CYP27A1):c.255+9C>T
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-8C>A
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732
NM_000784.4(CYP27A1):c.258G>A (p.Val86=)
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=)
NM_000784.4(CYP27A1):c.305del (p.Pro102fs) rs587778790
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=)
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=)
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter) rs1160640803
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) rs587778795
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.446+10G>A
NM_000784.4(CYP27A1):c.446+15G>A
NM_000784.4(CYP27A1):c.446+1G>A rs587778797
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.446+8G>A
NM_000784.4(CYP27A1):c.447-3C>T
NM_000784.4(CYP27A1):c.447-4G>T
NM_000784.4(CYP27A1):c.447-7C>T
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=)
NM_000784.4(CYP27A1):c.456C>T (p.His152=)
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=)
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=)
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) rs1559392331
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=)
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=)
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=)
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter) rs587778800
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.606G>A (p.Val202=)
NM_000784.4(CYP27A1):c.606G>T (p.Val202=)
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu)
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.646+9G>C
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271
NM_000784.4(CYP27A1):c.647-1G>T rs587778804
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=)
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=)
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=)
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=)
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315
NM_000784.4(CYP27A1):c.69_82del (p.His23fs)
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=)
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) rs587778807
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) rs587778808
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=)
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) rs587778810
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.845-1G>A rs397515353
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-6T>C
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=)
NM_000784.4(CYP27A1):c.863del (p.Glu288fs) rs587778815
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=)
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=)
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523

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