ClinVar Miner

List of variants in gene CYP27A1

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Total variants: 1154
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.255+327G>A rs4674338 0.36145
NM_000784.4(CYP27A1):c.256-150A>C rs691968 0.11485
NM_000784.4(CYP27A1):c.1184+55A>C rs73991002 0.07589
NM_000784.4(CYP27A1):c.255+295A>G rs4646534 0.06913
NM_000784.4(CYP27A1):c.256-296G>T rs691960 0.06719
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000784.4(CYP27A1):c.256-138G>A rs1177256281 0.03363
NM_000784.4(CYP27A1):c.256-140_256-139insCG rs201420982 0.02994
NM_000784.4(CYP27A1):c.256-139T>C rs34336949 0.02264
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01599
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01532
NM_000784.4(CYP27A1):c.446+223A>G rs115054657 0.01386
NM_000784.4(CYP27A1):c.255+87G>A rs78706879 0.01150
NM_000784.4(CYP27A1):c.1018-251C>T rs114013731 0.00808
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000784.4(CYP27A1):c.1018-186C>T rs114660195 0.00788
NC_000002.12:g.218781406T>C rs147477169 0.00773
NM_000784.4(CYP27A1):c.1476+72G>A rs116288589 0.00764
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000784.4(CYP27A1):c.447-141T>G rs11891257 0.00653
NM_000784.4(CYP27A1):c.256-142C>T rs187493096 0.00575
NM_000784.4(CYP27A1):c.255+193A>C rs78672392 0.00568
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NC_000002.12:g.218781575A>G rs145194389 0.00467
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00462
NM_000784.4(CYP27A1):c.1017+37G>C rs139862044 0.00459
NC_000002.12:g.218781609G>T rs150590414 0.00440
NM_000784.4(CYP27A1):c.256-137_256-126del rs1440895357 0.00423
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00374
NC_000002.12:g.218781453C>T rs139710471 0.00360
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_000784.4(CYP27A1):c.256-125_256-124insAC rs1228333852 0.00350
NM_000784.4(CYP27A1):c.446+199G>T rs146574215 0.00275
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 0.00119
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 0.00050
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00047
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.148G>A (p.Val50Ile) rs149101812 0.00025
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00023
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
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.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.1184+9G>T rs200457116 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.784C>T (p.Arg262Cys) rs778371330 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.1297C>T (p.Arg433Trp) rs143002163 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.1112C>T (p.Ala371Val) rs375590401 0.00007
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00007
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met) rs776992864 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.*209G>A rs540140393 0.00006
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 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.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.608C>T (p.Ser203Leu) rs186812403 0.00005
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=) rs375163463 0.00005
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 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.159G>A (p.Arg53=) rs750652986 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00004
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00003
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00003
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val) rs367920782 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.1582C>T (p.Gln528Ter) rs376609492 0.00003
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His) rs781157413 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.255G>A (p.Gln85=) rs374941032 0.00003
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 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.501G>A (p.Lys167=) rs921885901 0.00003
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00003
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910 0.00003
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244 0.00003
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln) rs755452918 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.85G>A (p.Ala29Thr) rs1266912871 0.00003
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=) rs202136743 0.00003
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) rs575064188 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.1089G>A (p.Glu363=) rs963559886 0.00002
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251 0.00002
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203 0.00002
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 0.00002
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 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.1476+2T>A rs1165952837 0.00002
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp) rs757522001 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.373C>G (p.Pro125Ala) rs1046723537 0.00002
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645 0.00002
NM_000784.4(CYP27A1):c.447-11C>T rs746577389 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe) rs375485705 0.00002
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro) rs1378044084 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp) rs1045858420 0.00002
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=) rs778193906 0.00002
NM_000784.4(CYP27A1):c.647-4T>C rs1943729690 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.844+14G>C rs1448660144 0.00002
NM_000784.4(CYP27A1):c.844+1G>A rs397515354 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+10G>T rs755966355 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.1018-16C>T rs1355294784 0.00001
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=) rs1172729937 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.1070T>G (p.Ile357Ser) rs2470229015 0.00001
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln) rs760471205 0.00001
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 0.00001
NM_000784.4(CYP27A1):c.1086C>T (p.His362=) rs139426361 0.00001
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys) rs72551321 0.00001
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378 0.00001
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=) rs1347645351 0.00001
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg) rs41272685 0.00001
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=) rs1943756461 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.1185-16A>G rs779178036 0.00001
NM_000784.4(CYP27A1):c.1185-18A>G rs1481124624 0.00001
NM_000784.4(CYP27A1):c.1185-19G>A rs540682832 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.1215G>T (p.Arg405=) rs751195886 0.00001
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr) rs1943764323 0.00001
NM_000784.4(CYP27A1):c.1237G>A (p.Val413Ile) rs1943764350 0.00001
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=) rs2470229498 0.00001
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=) rs779041544 0.00001
NM_000784.4(CYP27A1):c.1261A>G (p.Asn421Asp) rs1030440091 0.00001
NM_000784.4(CYP27A1):c.1263+10G>A rs775546941 0.00001
NM_000784.4(CYP27A1):c.1263+14G>C rs950806112 0.00001
NM_000784.4(CYP27A1):c.1263+19C>A rs377513951 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.1275G>A (p.Val425=) rs780172950 0.00001
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=) rs1383104486 0.00001
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His) rs772825536 0.00001
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala) rs1196465148 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.1328G>T (p.Ser443Ile) rs777141854 0.00001
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg) rs765660985 0.00001
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro) rs1480110004 0.00001
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=) rs527395716 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.1379T>G (p.Ile460Ser) rs748020709 0.00001
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=) rs1423547583 0.00001
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe) rs776275363 0.00001
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) rs200883871 0.00001
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=) rs1475504636 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser) rs1424528113 0.00001
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro) rs770631423 0.00001
NM_000784.4(CYP27A1):c.1472C>A (p.Ala491Glu) rs1024898619 0.00001
NM_000784.4(CYP27A1):c.1477-18G>A rs886703307 0.00001
NM_000784.4(CYP27A1):c.1477-19T>A rs1943772345 0.00001
NM_000784.4(CYP27A1):c.1477-19T>C rs1943772345 0.00001
NM_000784.4(CYP27A1):c.1477-4C>G rs755665162 0.00001
NM_000784.4(CYP27A1):c.1477-5C>A rs890298373 0.00001
NM_000784.4(CYP27A1):c.1477-5C>T 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.1494G>C (p.Lys498Asn) rs377290147 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=) rs1264241656 0.00001
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814 0.00001
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=) rs1446891143 0.00001
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe) rs970661282 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu) rs144701596 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.1559A>C (p.Lys520Thr) rs1943774432 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.1593C>T (p.Cys531=) rs1481894464 0.00001
NM_000784.4(CYP27A1):c.178A>G (p.Ile60Val) rs780279346 0.00001
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=) rs1366418494 0.00001
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310 0.00001
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660 0.00001
NM_000784.4(CYP27A1):c.202T>G (p.Phe68Val) rs1433492467 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.20del (p.Ala7fs) rs1325993773 0.00001
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=) rs747003400 0.00001
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=) rs1401090157 0.00001
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu) rs745513715 0.00001
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=) rs1387640811 0.00001
NM_000784.4(CYP27A1):c.248A>C (p.Gln83Pro) rs185591162 0.00001
NM_000784.4(CYP27A1):c.255+14G>A rs767761739 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.256-17T>G rs749010132 0.00001
NM_000784.4(CYP27A1):c.256-1G>T rs886556800 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.316G>A (p.Val106Met) rs374769409 0.00001
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 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.33G>A (p.Trp11Ter) rs1319938730 0.00001
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln) rs1298533109 0.00001
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793 0.00001
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe) rs747748483 0.00001
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser) rs759816877 0.00001
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro) rs1243753558 0.00001
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr) rs1465709333 0.00001
NM_000784.4(CYP27A1):c.408C>G (p.His136Gln) rs1943692396 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.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu) rs747525746 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+18G>A rs1180874245 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_000784.4(CYP27A1):c.446+9G>T rs1323849927 0.00001
NM_000784.4(CYP27A1):c.447-3C>A rs770217459 0.00001
NM_000784.4(CYP27A1):c.447-7C>T rs746321278 0.00001
NM_000784.4(CYP27A1):c.447-9T>A rs1185815022 0.00001
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=) rs749515902 0.00001
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu) rs768932304 0.00001
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=) rs553140875 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.525G>A (p.Thr175=) rs200506778 0.00001
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824 0.00001
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys) rs1284837909 0.00001
NM_000784.4(CYP27A1):c.547del (p.Asp183fs) rs1339553782 0.00001
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=) rs1301969299 0.00001
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn) rs2470226532 0.00001
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser) rs758959471 0.00001
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val) rs1203579586 0.00001
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile) rs375643077 0.00001
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg) rs751804153 0.00001
NM_000784.4(CYP27A1):c.646+13G>T rs1943728304 0.00001
NM_000784.4(CYP27A1):c.646+19G>A rs1323971715 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_000784.4(CYP27A1):c.647-17C>A rs774331706 0.00001
NM_000784.4(CYP27A1):c.647-19G>A rs768780400 0.00001
NM_000784.4(CYP27A1):c.647-7T>C rs1290000217 0.00001
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=) rs1943729887 0.00001
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=) rs1400244740 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.682T>C (p.Cys228Arg) rs1553616268 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.706G>A (p.Asp236Asn) rs144068826 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.746A>T (p.Gln249Leu) rs369961019 0.00001
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=) rs1320530639 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.794T>C (p.Leu265Pro) rs1307072775 0.00001
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=) rs1294713581 0.00001
NM_000784.4(CYP27A1):c.845-10G>A rs1472606093 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.851A>G (p.Lys284Arg) rs748877283 0.00001
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=) rs1349205417 0.00001
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr) rs371056722 0.00001
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358 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.917A>G (p.Gln306Arg) rs755841702 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val) rs902027153 0.00001
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile) rs961947219 0.00001
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248 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)_(219674510_?)del
NC_000002.11:g.(?_219674280)_(219677492_?)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.218781638del rs10713583
NC_000002.12:g.218781747T>C rs114345604
NC_000002.12:g.218812223dup rs2470226337
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.1001T>A (p.Met334Lys) rs2470227726
NM_000784.4(CYP27A1):c.1004C>T (p.Ala335Val)
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs) rs1575206357
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala) rs759622995
NM_000784.4(CYP27A1):c.1013A>T (p.Asp338Val) rs1575206365
NM_000784.4(CYP27A1):c.1014C>T (p.Asp338=) rs1575206371
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys) rs121908102
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+16G>T
NM_000784.4(CYP27A1):c.1017+17G>A rs1431354879
NM_000784.4(CYP27A1):c.1017+17G>T rs1431354879
NM_000784.4(CYP27A1):c.1017+18G>C
NM_000784.4(CYP27A1):c.1017+18G>T rs1480759669
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 rs2470228923
NM_000784.4(CYP27A1):c.1018-13C>T
NM_000784.4(CYP27A1):c.1018-19C>A rs1251539185
NM_000784.4(CYP27A1):c.1018-19C>T rs1251539185
NM_000784.4(CYP27A1):c.1018-1G>C rs1575206658
NM_000784.4(CYP27A1):c.1018-4C>G rs1394061180
NM_000784.4(CYP27A1):c.1018-4C>T rs1394061180
NM_000784.4(CYP27A1):c.1018-8T>C rs1943753198
NM_000784.4(CYP27A1):c.1019C>T (p.Thr340Ile) rs143377523
NM_000784.4(CYP27A1):c.1020_1022del (p.Ser341del) rs1362081601
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=) rs1943753517
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>A (p.Ala34=)
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=) rs2470228947
NM_000784.4(CYP27A1):c.1031T>A (p.Leu344Gln) rs1943753676
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter) rs2470228964
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=) rs2470228966
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=) rs776794344
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr) rs201472827
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=) rs929730099
NM_000784.4(CYP27A1):c.1056A>C (p.Ser352=) rs2470228980
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=) rs1354685155
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) rs2470228996
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) rs1575206688
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=) rs2470229006
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs) rs2470229009
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) rs1242219191
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro) rs1463950337
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=) rs766197589
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=) rs1359927408
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>T (p.Glu363Ter) rs72551321
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=) rs760334139
NM_000784.4(CYP27A1):c.108del (p.Ser37fs) rs2470201816
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=) rs1045010358
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs) rs2470229058
NM_000784.4(CYP27A1):c.109T>G (p.Ser37Ala)
NM_000784.4(CYP27A1):c.1100G>T (p.Gly367Val)
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
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.1113C>G (p.Ala371=) rs746269951
NM_000784.4(CYP27A1):c.1114G>C (p.Gly372Arg)
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp) rs369969903
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=) rs1943755876
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) rs1943755840
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys) rs536176295
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu) rs1943755995
NM_000784.4(CYP27A1):c.1124C>T (p.Pro375Leu) rs1316742821
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter) rs1943756375
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs) rs1449962580
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs) rs2470229117
NM_000784.4(CYP27A1):c.1142C>T (p.Ala381Val) rs1943756547
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro) rs2470229141
NM_000784.4(CYP27A1):c.1146C>T (p.His382=) rs1288582915
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs) rs2470229147
NM_000784.4(CYP27A1):c.1155G>A (p.Leu385=)
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter) rs2470201839
NM_000784.4(CYP27A1):c.1161A>C (p.Lys387Asn) rs1559393286
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser) rs1201958431
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=) rs2470229178
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=) rs2470229181
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs) rs2470229179
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln) rs1553616443
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=) rs2470201841
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 rs1445661658
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 rs2470229235
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.1185-13C>A rs772157208
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=) rs2105981050
NM_000784.4(CYP27A1):c.1192C>A (p.Pro398Thr) rs1559393373
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs) rs1943763473
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly) rs2105981055
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=) rs1309563490
NM_000784.4(CYP27A1):c.1203C>T (p.Pro401=)
NM_000784.4(CYP27A1):c.1207A>G (p.Asn403Asp) rs1000788840
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro) rs2470229456
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=) rs1943763785
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=) rs751195886
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=) rs2470229468
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.1227G>C (p.Lys409Asn)
NM_000784.4(CYP27A1):c.1228G>A (p.Glu410Lys)
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe) rs1943764288
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) rs587778783
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala) rs587778783
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) rs2470229505
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg) rs2106479143
NM_000784.4(CYP27A1):c.1257C>A (p.Pro419=)
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1263+16G>A
NM_000784.4(CYP27A1):c.1263+19C>T rs377513951
NM_000784.4(CYP27A1):c.1263+1G>T rs397515355
NM_000784.4(CYP27A1):c.1263+21del
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791
NM_000784.4(CYP27A1):c.1263+5G>A rs587778784
NM_000784.4(CYP27A1):c.1263+9G>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 rs2470229799
NM_000784.4(CYP27A1):c.1264-6T>C rs2105981164
NM_000784.4(CYP27A1):c.1264-7T>G rs2470229797
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=) rs2105981167
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=) rs2470229812
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu) rs757381848
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu) rs757381848
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=) rs2470229827
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.1286A>T (p.Tyr429Phe)
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=) rs1943766681
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs) rs2470229842
NM_000784.4(CYP27A1):c.1304C>T (p.Pro435Leu) rs1559393493
NM_000784.4(CYP27A1):c.1305C>T (p.Pro435=) rs2470229858
NM_000784.4(CYP27A1):c.1306A>G (p.Thr436Ala) rs2470229860
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=) rs2470229897
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=) rs2105981217
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) rs2470229906
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) rs2470229911
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser) rs753166698
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs) rs2105981231
NM_000784.4(CYP27A1):c.1339del (p.His447fs)
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu) rs370868184
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val) rs1039198612
NM_000784.4(CYP27A1):c.1368T>A (p.Ala456=)
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs) rs751969035
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs) rs2470230045
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=) rs2470230059
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_000784.4(CYP27A1):c.1383G>C (p.Gln461His) rs2470230091
NM_000784.4(CYP27A1):c.1388del (p.Pro463fs)
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.139G>A (p.Gly47Arg) rs1167201363
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) rs587778787
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=) rs1337134065
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val) rs2470230138
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=) rs770435184
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=) rs1475504636
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs) rs2470230145
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=) rs2470201894
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro) rs121908097
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=) rs2470230165
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=) rs1008075672
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1428C>T (p.Cys476=)
NM_000784.4(CYP27A1):c.1432G>A (p.Gly478Ser) rs1943769392
NM_000784.4(CYP27A1):c.1434C>A (p.Gly478=) rs139279260
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) rs199638075
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu) rs199638075
NM_000784.4(CYP27A1):c.1437C>T (p.Arg479=) rs1559393601
NM_000784.4(CYP27A1):c.1440G>A (p.Arg480=)
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser) rs2470230273
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=) rs2105981315
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=) rs2470230293
NM_000784.4(CYP27A1):c.1452G>C (p.Leu484=)
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter) rs1301870550
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.1460A>G (p.Gln487Arg) rs200106364
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=) rs1943770131
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=) rs1943770169
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=) rs2470230320
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=) rs1324313458
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs) rs2470230328
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=) rs1229201370
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) rs2470230339
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=) rs2470230340
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=) rs2470230340
NM_000784.4(CYP27A1):c.1476+10G>A rs1358508044
NM_000784.4(CYP27A1):c.1476+14G>A rs769146248
NM_000784.4(CYP27A1):c.1476+15G>C rs2470230359
NM_000784.4(CYP27A1):c.1476+17T>C rs2470230362
NM_000784.4(CYP27A1):c.1476+18A>G
NM_000784.4(CYP27A1):c.1476+1del
NM_000784.4(CYP27A1):c.1476+20T>C rs1575207079
NM_000784.4(CYP27A1):c.1476+2T>C rs1165952837
NM_000784.4(CYP27A1):c.1477-13C>G rs780929951
NM_000784.4(CYP27A1):c.1477-13C>T rs780929951
NM_000784.4(CYP27A1):c.1477-16G>T rs2470230504
NM_000784.4(CYP27A1):c.1477-1G>A rs1454908929
NM_000784.4(CYP27A1):c.1477-20A>G rs757019811
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 rs2105981409
NM_000784.4(CYP27A1):c.1477-4C>A rs755665162
NM_000784.4(CYP27A1):c.1477-4C>T rs755665162
NM_000784.4(CYP27A1):c.1477-5C>G rs890298373
NM_000784.4(CYP27A1):c.1477-6C>A rs1182127092
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 rs2105981410
NM_000784.4(CYP27A1):c.1477-8C>A rs1461082000
NM_000784.4(CYP27A1):c.1477-8C>G rs1461082000
NM_000784.4(CYP27A1):c.1477-9A>G rs2105981405
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met) rs774975996
NM_000784.4(CYP27A1):c.1479G>T (p.Leu493=)
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=) rs1575195847
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu) rs1338430430
NM_000784.4(CYP27A1):c.1497G>C (p.Val499=)
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=) rs1943773164
NM_000784.4(CYP27A1):c.1499T>C (p.Val500Ala)
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.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.150C>T (p.Val50=) rs1408697261
NM_000784.4(CYP27A1):c.1512G>A (p.Glu504=) rs1177079490
NM_000784.4(CYP27A1):c.1513A>G (p.Thr505Ala) rs2470230622
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) rs1943773832
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=) rs2470230633
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs) rs2105981467
NM_000784.4(CYP27A1):c.151C>G (p.Arg51Gly) rs570721628
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val) rs767162764
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=) rs970661282
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln) rs1333445399
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro) rs1333445399
NM_000784.4(CYP27A1):c.1530T>C (p.Ser510=)
NM_000784.4(CYP27A1):c.1531G>A (p.Val511Met) rs2470230639
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=) rs2470230640
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro) rs1943773997
NM_000784.4(CYP27A1):c.1537C>G (p.Arg513Gly)
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) 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=) rs2470230656
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=) rs2470230658
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln) rs1415177344
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=) rs2105981481
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala) rs2470230665
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg) rs1943774432
NM_000784.4(CYP27A1):c.1563del (p.Val522fs) rs2470230685
NM_000784.4(CYP27A1):c.1563dup (p.Val522fs)
NM_000784.4(CYP27A1):c.1567G>A (p.Gly523Ser) rs1943774607
NM_000784.4(CYP27A1):c.1567G>T (p.Gly523Cys) rs1943774607
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa) rs2470230689
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=) rs1943774760
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly) rs757522001
NM_000784.4(CYP27A1):c.1581G>A (p.Leu527=)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.1589A>T (p.Gln530Leu) 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.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=) rs1943396825
NM_000784.4(CYP27A1):c.160C>T (p.Gln54Ter) rs1314269374
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=) rs2106479159
NM_000784.4(CYP27A1):c.171A>G (p.Leu57=) rs2470201937
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys) rs2470201944
NM_000784.4(CYP27A1):c.180T>A (p.Ile60=) rs2470201954
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr) rs2470201956
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=) rs2470201958
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro) rs781157413
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=) rs768798214
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=) rs2470201969
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.1_10del (p.Met1fs)
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His) rs2470202075
NM_000784.4(CYP27A1):c.201C>T (p.Arg67=)
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.203del (p.Phe68fs)
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu) rs2106479175
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu) rs1401090157
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) rs534844099
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys) rs745513715
NM_000784.4(CYP27A1):c.227G>C (p.Gly76Ala) rs1370017696
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys) rs2470202135
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=) rs1943401336
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro) rs2470202142
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=) rs1295302612
NM_000784.4(CYP27A1):c.238C>G (p.Gln80Glu) rs1943401478
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter) rs1943401478
NM_000784.4(CYP27A1):c.246C>T (p.His82=) rs2470202187
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.24G>A (p.Arg8=)
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs) rs2470202191
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter) rs1333458369
NM_000784.4(CYP27A1):c.255+10G>A rs1204244592
NM_000784.4(CYP27A1):c.255+14G>T rs767761739
NM_000784.4(CYP27A1):c.255+15C>T rs2470202232
NM_000784.4(CYP27A1):c.255+20C>A rs1943402023
NM_000784.4(CYP27A1):c.255+7C>G rs1943401803
NM_000784.4(CYP27A1):c.255+7del rs2470202212
NM_000784.4(CYP27A1):c.256-10A>G rs2105978797
NM_000784.4(CYP27A1):c.256-136C>A rs34546624
NM_000784.4(CYP27A1):c.256-136C>T rs34546624
NM_000784.4(CYP27A1):c.256-137C>T rs35745741
NM_000784.4(CYP27A1):c.256-138_256-137insTA rs1559391300
NM_000784.4(CYP27A1):c.256-16T>G rs1183588587
NM_000784.4(CYP27A1):c.256-20G>A rs1295834486
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 rs2470223452
NM_000784.4(CYP27A1):c.256-9A>C rs1943689091
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu) rs200604732
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.263A>G (p.Tyr88Cys)
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter) rs1943689487
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro) rs2470201632
NM_000784.4(CYP27A1):c.275A>G (p.Tyr92Cys)
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) rs1446435580
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys) rs1943397146
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=) rs2105978833
NM_000784.4(CYP27A1):c.303del (p.Pro102fs) rs2470223501
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.311T>A (p.Met104Lys)
NM_000784.4(CYP27A1):c.312G>A (p.Met104Ile) rs2470223517
NM_000784.4(CYP27A1):c.315C>A (p.His105Gln) rs753981913
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.329G>C (p.Ser110Thr)
NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp) rs1441761338
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.336G>A (p.Pro112=) rs1413155008
NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro) rs1002163395
NM_000784.4(CYP27A1):c.339C>G (p.Leu113=)
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=) rs1178812470
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.346C>T (p.Gln116Ter) rs2470223574
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala) rs1943690665
NM_000784.4(CYP27A1):c.351G>C (p.Val117=) rs2470223576
NM_000784.4(CYP27A1):c.351G>T (p.Val117=) rs2470223576
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=) rs369294392
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln) rs748904875
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter) rs1943690848
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=) rs1943690904
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=) rs764764261
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=) rs764764261
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=) rs1279153406
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) rs587778794
NM_000784.4(CYP27A1):c.375A>G (p.Pro125=) rs2470223603
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly) rs201114717
NM_000784.4(CYP27A1):c.37C>T (p.Leu13=) rs2470201669
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn) rs1193291074
NM_000784.4(CYP27A1):c.388A>G (p.Met130Val) rs1409883202
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys) rs1169227791
NM_000784.4(CYP27A1):c.38del (p.Leu13fs) rs1943397479
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile) rs2470223627
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=) rs911534514
NM_000784.4(CYP27A1):c.393G>C (p.Glu131Asp)
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=) rs1237307385
NM_000784.4(CYP27A1):c.395del (p.Leu132fs) rs2470223633
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=) rs2470223635
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.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.409C>A (p.Arg137=)
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro) rs587778818
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=) rs1275203092
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His) rs764118885
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=) rs2470223710
NM_000784.4(CYP27A1):c.41_63del (p.Arg14fs)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn) rs746358147
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=) rs1943692779
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=) rs2470223724
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=) rs2470223724
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs) rs2470223719
NM_000784.4(CYP27A1):c.426del (p.Thr143fs) rs2105978931
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=) rs754714118
NM_000784.4(CYP27A1):c.42A>G (p.Arg14=)
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=) rs1283533264
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>A (p.Gly145=) rs587778796
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>C
NM_000784.4(CYP27A1):c.446+1G>T rs587778797
NM_000784.4(CYP27A1):c.446+20_446+25del
NM_000784.4(CYP27A1):c.446+8G>A rs950113577
NM_000784.4(CYP27A1):c.447-12G>T rs1472853664
NM_000784.4(CYP27A1):c.447-13T>G rs2470226300
NM_000784.4(CYP27A1):c.447-15T>C rs1943723630
NM_000784.4(CYP27A1):c.447-192C>T rs77127330
NM_000784.4(CYP27A1):c.447-1G>A rs2105979879
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 rs781743253
NM_000784.4(CYP27A1):c.447-8C>G rs781743253
NM_000784.4(CYP27A1):c.447-9T>C rs1185815022
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.456C>T (p.His152=) rs1943723875
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=) rs988463082
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=) rs988463082
NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs) rs1413976755
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter) rs2470226358
NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter) 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) rs761927223
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs) rs2470226391
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=) rs2106479063
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) rs2470226435
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=) rs763890316
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.4dup (p.Ala2fs)
NM_000784.4(CYP27A1):c.504A>G (p.Pro168=) rs142623022
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.51C>T (p.Gly17=) rs2470201712
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter) rs1943725257
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=) rs1943725257
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=) rs200506778
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.536del (p.Asn179fs) rs2470226496
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu) rs2106479070
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.554_555del (p.Phe185fs)
NM_000784.4(CYP27A1):c.555del (p.Phe185fs) rs2470226536
NM_000784.4(CYP27A1):c.556A>G (p.Met186Val)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala) rs2470226546
NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro) rs754310499
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu) rs754310499
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=) rs2105979989
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=) rs1943726763
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.571C>T (p.Gln191Ter) rs1323697541
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=) rs2470226564
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=) rs1045858420
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr) rs1333244374
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=) rs2470226586
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) rs772252994
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=) rs1487944910
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.599A>G (p.Asn200Ser) rs2470226643
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) rs2470226647
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000784.4(CYP27A1):c.621A>G (p.Gln207=)
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=) rs200060245
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His) rs2470226679
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr) rs757653354
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=) rs2105980041
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=) rs2470226694
NM_000784.4(CYP27A1):c.639del (p.Leu214fs) rs2470226691
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp) rs781222632
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=) rs1393281206
NM_000784.4(CYP27A1):c.642G>T (p.Leu214Phe) rs1393281206
NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter) rs761663976
NM_000784.4(CYP27A1):c.646+10C>T rs2470226716
NM_000784.4(CYP27A1):c.646+11T>C rs2470226717
NM_000784.4(CYP27A1):c.646+1G>A rs79535262
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+1G>T rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.646+8T>C rs2470226712
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 rs2470226818
NM_000784.4(CYP27A1):c.647-16T>G rs2470226812
NM_000784.4(CYP27A1):c.647-17C>T rs774331706
NM_000784.4(CYP27A1):c.647-18C>A rs752171853
NM_000784.4(CYP27A1):c.647-18C>T rs752171853
NM_000784.4(CYP27A1):c.647-1G>A rs587778804
NM_000784.4(CYP27A1):c.647-1G>T rs587778804
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.647-9A>G rs1943729562
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.654del (p.Tyr219fs) rs2470226845
NM_000784.4(CYP27A1):c.656A>G (p.Tyr219Cys) rs1321946805
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.663G>A (p.Leu221=) rs1559392542
NM_000784.4(CYP27A1):c.666C>G (p.Phe222Leu) rs751692931
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) rs760323157
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=) rs2470226883
NM_000784.4(CYP27A1):c.674G>C (p.Arg225Pro)
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu) rs753275244
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=) rs759038711
NM_000784.4(CYP27A1):c.676A>G (p.Ile226Val)
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=) rs563809755
NM_000784.4(CYP27A1):c.67C>A (p.His23Asn) rs1255948354
NM_000784.4(CYP27A1):c.67dup (p.His23fs) rs1559384522
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=) rs1180200717
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs) rs2470226900
NM_000784.4(CYP27A1):c.689dup (p.Arg231fs) rs2470226909
NM_000784.4(CYP27A1):c.68A>G (p.His23Arg) rs1943398664
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=) rs2470226920
NM_000784.4(CYP27A1):c.698T>C (p.Ile233Thr)
NM_000784.4(CYP27A1):c.69_82del (p.His23fs) rs1943398587
NM_000784.4(CYP27A1):c.6T>G (p.Ala2=)
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>A (p.Pro234=)
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.702del (p.Glu235fs) rs2105980153
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter) rs149897566
NM_000784.4(CYP27A1):c.704A>C (p.Glu235Ala)
NM_000784.4(CYP27A1):c.707A>C (p.Asp236Ala) rs2470226938
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile) rs1359099641
NM_000784.4(CYP27A1):c.713_716dup (p.Phe240fs)
NM_000784.4(CYP27A1):c.716C>T (p.Thr239Ile) rs778755248
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=) rs2470226956
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=) rs2470226956
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe) rs369660141
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter) rs2470226967
NM_000784.4(CYP27A1):c.733G>C (p.Gly245Arg) rs746666035
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=) rs2470226985
NM_000784.4(CYP27A1):c.73del (p.Ala25fs) rs587778807
NM_000784.4(CYP27A1):c.741G>A (p.Met247Ile) rs1212209109
NM_000784.4(CYP27A1):c.741G>T (p.Met247Ile)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser) rs775885419
NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly) rs2106479103
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro) rs1460381043
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) rs1424980745
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=) rs2105980208
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=) rs2470201767
NM_000784.4(CYP27A1):c.763A>G (p.Thr255Ala)
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.776del (p.Lys259fs) rs1343936087
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=) rs2470227055
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=) rs1442576174
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=) rs2470227104
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.798T>G (p.Pro266=) rs1575206137
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs) rs2470201771
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=) rs769203167
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=) rs769203167
NM_000784.4(CYP27A1):c.817G>C (p.Asp273His) rs11559242
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) rs1425208118
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=) rs1322506959
NM_000784.4(CYP27A1):c.842T>C (p.Phe281Ser) rs762365759
NM_000784.4(CYP27A1):c.844+10C>T rs2470227204
NM_000784.4(CYP27A1):c.844+13A>T rs2470227207
NM_000784.4(CYP27A1):c.844+1G>T rs397515354
NM_000784.4(CYP27A1):c.844+4A>G rs1016174396
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG rs2470227196
NM_000784.4(CYP27A1):c.844+6G>A rs1943737223
NM_000784.4(CYP27A1):c.844+9T>G rs2470227202
NM_000784.4(CYP27A1):c.845-11T>C
NM_000784.4(CYP27A1):c.845-12T>C rs2470227415
NM_000784.4(CYP27A1):c.845-13G>A rs1398037639
NM_000784.4(CYP27A1):c.845-1G>C rs397515353
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.845-46_881del rs2470227377
NM_000784.4(CYP27A1):c.845-6T>C rs2105980379
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=) rs1349205417
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=) rs2105980390
NM_000784.4(CYP27A1):c.858del (p.Ile286fs) rs2470227436
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=) rs2470227441
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro) rs2470227450
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=) rs202136743
NM_000784.4(CYP27A1):c.871G>T (p.Glu291Ter)
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=) rs766678004
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=) rs1310841339
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp) rs1417655712
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.900del (p.Pro302fs) rs1943740392
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=) rs2105980427
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln) rs750278316
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=) rs1316018823
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=) rs1238432126
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=) rs2470227529
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=) rs2470227550
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln) rs2470227553
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=) rs2470227555
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.936C>T (p.His312=)
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=) rs1943740941
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe) rs2470227572
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_000784.4(CYP27A1):c.953del (p.Gly318fs) rs2470227581
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.967C>A (p.Arg323=)
NM_000784.4(CYP27A1):c.969G>A (p.Arg323=)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.974C>T (p.Ala325Val) rs1559392874
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=) rs2105980465
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=) rs771163267
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs) rs2470227698
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=) rs2105980473
NM_000784.4(CYP27A1):c.993G>C (p.Glu331Asp) rs2105980476
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg) rs1943741805
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=) rs2470227719
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=) rs967210940
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=) rs971599666
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=) rs971599666
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met) rs2470201597

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