ClinVar Miner

List of variants in gene CYP27A1 studied for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 985
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830 0.00215
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193 0.00080
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00027
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys) rs778371330 0.00015
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735 0.00014
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=) rs1426398337 0.00009
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163 0.00008
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 0.00008
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr) rs368735609 0.00007
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met) rs149366157 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822 0.00006
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=) rs373428306 0.00005
NM_000784.4(CYP27A1):c.1185-3C>A rs373628198 0.00005
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp) rs570721628 0.00005
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) rs150091721 0.00005
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val) rs372772968 0.00005
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00005
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn) rs751280804 0.00005
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=) rs780332239 0.00005
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1185-15T>C rs117727806 0.00004
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101 0.00004
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 0.00004
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=) rs921885901 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu) rs186812403 0.00004
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00003
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=) rs1039198612 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu) rs773892447 0.00003
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000784.4(CYP27A1):c.447-10G>A rs756808196 0.00003
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His) rs761927223 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266 0.00003
NM_000784.4(CYP27A1):c.844+20G>A rs200698553 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523 0.00003
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00002
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu) rs781360671 0.00002
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=) rs1229201370 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=) rs764764261 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) rs72551319 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1017+14G>A rs1196582375 0.00001
NM_000784.4(CYP27A1):c.1017+1G>A rs1943742261 0.00001
NM_000784.4(CYP27A1):c.1017+4C>T rs763008570 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00001
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val) rs1201499588 0.00001
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr) rs1201958431 0.00001
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1185-13C>A rs772157208 0.00001
NM_000784.4(CYP27A1):c.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1185-1G>A rs587778779 0.00001
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1263+5G>T rs587778784 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 0.00001
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581 0.00001
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=) rs1943767251 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945 0.00001
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=) rs755008787 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-8C>T rs1461082000 0.00001
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr) rs370013480 0.00001
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199 0.00001
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=) rs1375435703 0.00001
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys) rs374507635 0.00001
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=) rs1943775029 0.00001
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.255+8G>A rs774689564 0.00001
NM_000784.4(CYP27A1):c.255+9C>T rs762433789 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.256-8C>A rs1416013036 0.00001
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=) rs1559391394 0.00001
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=) rs1696186258 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter) rs1398584213 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 0.00001
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=) rs1413155008 0.00001
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.446+15G>A rs775813515 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 0.00001
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=) rs749708223 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=) rs1182190234 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) rs72551315 0.00001
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=) rs1187804477 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=) rs1943733748 0.00001
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933 0.00001
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=) rs1224145759 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys) rs192494481 0.00001
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala) rs1271066819 0.00001
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022 0.00001
NM_000784.4(CYP27A1):c.845-3C>T rs768674577 0.00001
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn) rs958713867 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328 0.00001
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=) rs1227319154 0.00001
NC_000002.11:g.(?_219646906)_(219647180_?)del
NC_000002.11:g.(?_219674280)_(219679753_?)del
NC_000002.11:g.(?_219679083)_(219679753_?)del
NC_000002.11:g.(?_219679093)_(219679763_?)del
NC_000002.12:g.(?_218809567)_(218809777_?)del
NC_000002.12:g.218812223dup
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.3(CYP27A1):c.[446+1G>T];[808C>T]
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
NM_000784.4(CYP27A1):c.1017+10G>T
NM_000784.4(CYP27A1):c.1017+11G>C rs766039123
NM_000784.4(CYP27A1):c.1017+11G>T rs766039123
NM_000784.4(CYP27A1):c.1017+14G>C rs1196582375
NM_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1017+15_1017+18del rs1679085939
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T
NM_000784.4(CYP27A1):c.1017+18G>T
NM_000784.4(CYP27A1):c.1017+1del rs1559392904
NM_000784.4(CYP27A1):c.1017+5G>C rs370304209
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.1018-11C>G
NM_000784.4(CYP27A1):c.1018-16C>T
NM_000784.4(CYP27A1):c.1018-19C>A
NM_000784.4(CYP27A1):c.1018-19C>T
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1018-4C>G
NM_000784.4(CYP27A1):c.1018-4C>T
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro) rs2106479125
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn) rs2105980881
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) rs72551320
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=) rs2105980889
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys) rs760471205
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=) rs2105980920
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu) rs2105980922
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp) rs1559384559
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=) rs1943755876
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
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.1184+16G>A
NM_000784.4(CYP27A1):c.1184+16G>C rs1445661658
NM_000784.4(CYP27A1):c.1184+16G>T rs1445661658
NM_000784.4(CYP27A1):c.1184+1G>C rs587778777
NM_000784.4(CYP27A1):c.1184+20T>C
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+7C>T rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>A rs200457116
NM_000784.4(CYP27A1):c.1184+9G>C rs200457116
NM_000784.4(CYP27A1):c.1185-18A>G
NM_000784.4(CYP27A1):c.1185-19G>A
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 rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.1185-4G>A rs776459243
NM_000784.4(CYP27A1):c.1185-4G>T rs776459243
NM_000784.4(CYP27A1):c.1185-5T>C rs2105981044
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=) rs1271161678
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter) rs2105981050
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
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.1203C>A (p.Pro401=)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=) rs767002858
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) rs587778782
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) rs587778783
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter) rs2105981099
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=) rs2106479141
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly) rs2105981100
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala) rs755343859
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+14G>C
NM_000784.4(CYP27A1):c.1263+19C>T
NM_000784.4(CYP27A1):c.1263+1G>T
NM_000784.4(CYP27A1):c.1263+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1264-1G>A rs587778785
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1264-5T>G
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G
NM_000784.4(CYP27A1):c.1264-8C>T rs2105981161
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=) rs2105981167
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1284C>T (p.His428=) rs1653127444
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=) rs2105981221
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=) rs760024535
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter) rs1325218192
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys) rs2105981257
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp) rs777432192
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val) rs777432192
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu) rs2105981259
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) rs587778787
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser) rs2105981299
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser) rs72551322
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.1436G>C (p.Arg479Pro)
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter) rs1943770060
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
NM_000784.4(CYP27A1):c.1470C>G (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.1472C>T (p.Ala491Val) rs1024898619
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A
NM_000784.4(CYP27A1):c.1476+15G>C
NM_000784.4(CYP27A1):c.1476+17T>C
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1476+2T>A
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-13C>G
NM_000784.4(CYP27A1):c.1477-13C>T
NM_000784.4(CYP27A1):c.1477-16G>T
NM_000784.4(CYP27A1):c.1477-19T>A
NM_000784.4(CYP27A1):c.1477-19T>C
NM_000784.4(CYP27A1):c.1477-1G>A
NM_000784.4(CYP27A1):c.1477-20A>G
NM_000784.4(CYP27A1):c.1477-20A>T rs757019811
NM_000784.4(CYP27A1):c.1477-2A>C rs111570247
NM_000784.4(CYP27A1):c.1477-3C>A rs78938783
NM_000784.4(CYP27A1):c.1477-3C>G rs78938783
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.1477-4C>A
NM_000784.4(CYP27A1):c.1477-4C>G
NM_000784.4(CYP27A1):c.1477-4C>T
NM_000784.4(CYP27A1):c.1477-5C>G
NM_000784.4(CYP27A1):c.1477-5C>T rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A
NM_000784.4(CYP27A1):c.1477-6C>T rs1182127092
NM_000784.4(CYP27A1):c.1477-7C>A rs2105981410
NM_000784.4(CYP27A1):c.1477-7C>T
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-8C>G
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu) rs2105981476
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly) rs1943775075
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=) rs1481894464
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro) rs1191317525
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys) rs1943400890
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=) rs1289665937
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.255+10G>A
NM_000784.4(CYP27A1):c.255+14G>A
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G
NM_000784.4(CYP27A1):c.255+7del
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-16T>G
NM_000784.4(CYP27A1):c.256-17T>G
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.256-20G>A
NM_000784.4(CYP27A1):c.256-2A>G rs1559391390
NM_000784.4(CYP27A1):c.256-5C>T rs768029983
NM_000784.4(CYP27A1):c.256-6C>T
NM_000784.4(CYP27A1):c.256-9A>C
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.258G>A (p.Val86=) rs2105978806
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=) rs2106479038
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter) rs1943689487
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=) rs773872361
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter) rs1943689766
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
NM_000784.4(CYP27A1):c.305del (p.Pro102fs) rs587778790
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter) rs1943689944
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
NM_000784.4(CYP27A1):c.316G>A (p.Val106Met) rs374769409
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=) rs755282568
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=) rs2105978849
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly) rs1441761338
NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg) rs531504325
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=) rs919883150
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=) rs2105978882
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
NM_000784.4(CYP27A1):c.396A>G (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.39G>A (p.Leu13=) rs2106479059
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
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>A (p.Gly145=)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.440_446+2del rs2105978950
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=) rs2105978956
NM_000784.4(CYP27A1):c.446+10G>A rs200400166
NM_000784.4(CYP27A1):c.446+18G>A
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.446+9G>T
NM_000784.4(CYP27A1):c.447-12G>T
NM_000784.4(CYP27A1):c.447-13T>G
NM_000784.4(CYP27A1):c.447-15T>C
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.447-4G>T rs2105979874
NM_000784.4(CYP27A1):c.447-8C>A
NM_000784.4(CYP27A1):c.447-8C>G
NM_000784.4(CYP27A1):c.447-9T>A
NM_000784.4(CYP27A1):c.447-9T>C
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=) rs2105979882
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875
NM_000784.4(CYP27A1):c.46dup (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr) rs2105979908
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=) rs2106479063
NM_000784.4(CYP27A1):c.48C>T (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.492G>T (p.Arg164=) rs2105979919
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu) rs59443548
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
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.515C>A (p.Ala172Glu) rs200753815
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=) rs1238433654
NM_000784.4(CYP27A1):c.543G>T (p.Val181=) rs2105979971
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter)
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
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.58del (p.Leu20fs) rs2106479076
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.597G>T (p.Gly199=) rs2105980020
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) rs587778802
NM_000784.4(CYP27A1):c.606G>A (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.606G>T (p.Val202=) rs1451997056
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter) rs186812403
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=) rs781222632
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.646+10C>T
NM_000784.4(CYP27A1):c.646+11T>C
NM_000784.4(CYP27A1):c.646+13G>T
NM_000784.4(CYP27A1):c.646+19G>A
NM_000784.4(CYP27A1):c.646+1G>A
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.646+8T>C
NM_000784.4(CYP27A1):c.646+8del rs1943728243
NM_000784.4(CYP27A1):c.646+9G>C rs760140162
NM_000784.4(CYP27A1):c.647-10C>T
NM_000784.4(CYP27A1):c.647-16T>G
NM_000784.4(CYP27A1):c.647-17C>A
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A
NM_000784.4(CYP27A1):c.647-18C>T
NM_000784.4(CYP27A1):c.647-19G>A
NM_000784.4(CYP27A1):c.647-1G>A
NM_000784.4(CYP27A1):c.647-1G>T rs587778804
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.647-7T>C
NM_000784.4(CYP27A1):c.647-9A>G
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter) rs1414259537
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=) rs1414259537
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) rs755532803
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=) rs2105980119
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=) rs1423345815
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr) rs2105980154
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu) rs1943733556
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) rs587778807
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) rs587778808
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) rs1559392634
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=) rs1431924945
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs) rs2105980214
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys) rs2105980216
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe) rs763461546
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) rs587778810
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=) rs2105980247
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter) rs1943736070
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys) rs1943736101
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter) rs532134925
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=) rs532134925
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
NM_000784.4(CYP27A1):c.819del (p.Asp273fs) rs587778812
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
NM_000784.4(CYP27A1):c.844+10C>T
NM_000784.4(CYP27A1):c.844+13A>T
NM_000784.4(CYP27A1):c.844+14G>C
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.844+1G>T
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.844+9T>G
NM_000784.4(CYP27A1):c.845-10G>A
NM_000784.4(CYP27A1):c.845-12T>C
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-1G>C
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-46_881del
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=) rs762359911
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.863del (p.Glu288fs) rs587778815
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val) rs1417655712
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter) rs1943741125
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=) rs1943741154
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=) rs1400093675
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)

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