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.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.1148T>A (p.Met383Lys)
|
rs539356203
|
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)_(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.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.160C>T (p.Gln54Ter)
|
|
|
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.346C>T (p.Gln116Ter)
|
|
|
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.38del (p.Leu13fs)
|
|
|
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+1G>T
|
|
|
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.858del (p.Ile286fs)
|
|
|
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=)
|
|
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NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
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NM_000784.4(CYP27A1):c.909T>C (p.Asp303=)
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rs1316018823
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NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
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NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
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NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
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NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe)
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rs2105980439
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NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
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NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
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NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
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NM_000784.4(CYP27A1):c.935A>C (p.His312Pro)
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rs1275856308
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NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
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NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
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NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
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rs397515356
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NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
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NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
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rs1943741125
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NM_000784.4(CYP27A1):c.957G>A (p.Gln319=)
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rs1943741154
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NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys)
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rs2105980462
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NM_000784.4(CYP27A1):c.975C>T (p.Ala325=)
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rs2105980465
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NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
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NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
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NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)
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rs1275043449
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NM_000784.4(CYP27A1):c.981C>A (p.Gly327=)
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rs1400093675
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NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
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NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
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NM_000784.4(CYP27A1):c.987G>A (p.Leu329=)
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rs2105980473
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NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
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NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser)
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rs1399829248
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NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
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NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
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NM_000784.4(CYP27A1):c.99C>T (p.Ala33=)
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rs967210940
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NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
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NM_000784.4(CYP27A1):c.9G>T (p.Ala3=)
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rs971599666
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NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
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