ClinVar Miner

List of variants reported as uncertain significance for cholesterol metabolism disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 784
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001360.3(DHCR7):c.*119G>A rs151230950 0.01111
NM_001360.3(DHCR7):c.*192C>T rs115338563 0.00961
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_001360.3(DHCR7):c.*226C>T rs185557595 0.00672
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_014762.4(DHCR24):c.*1489G>A rs192013345 0.00558
NM_001360.3(DHCR7):c.*28G>T rs114143715 0.00500
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_001360.3(DHCR7):c.*755C>T rs58046295 0.00355
NM_014762.4(DHCR24):c.*1424C>T rs113651566 0.00331
NM_006918.5(SC5D):c.*981C>T rs185962880 0.00266
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_006918.5(SC5D):c.*367A>T rs139178876 0.00241
NM_006918.5(SC5D):c.*582A>G rs11551924 0.00213
NM_006918.5(SC5D):c.*2430C>T rs529785402 0.00211
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_014762.4(DHCR24):c.*914G>A rs140759061 0.00185
NM_006918.5(SC5D):c.*2277A>G rs562285193 0.00177
NM_014762.4(DHCR24):c.*2038G>A rs116411531 0.00162
NM_006918.5(SC5D):c.*2963del rs886047862 0.00161
NM_014762.4(DHCR24):c.*2080C>T rs377656375 0.00148
NM_014762.4(DHCR24):c.*1815A>T rs570922003 0.00147
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_006918.5(SC5D):c.*1876G>T rs151210671 0.00123
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_006918.5(SC5D):c.*2873A>G rs186742359 0.00092
NM_014762.4(DHCR24):c.616G>A (p.Glu206Lys) rs150688144 0.00092
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001360.3(DHCR7):c.*779T>C rs541282653 0.00081
NM_006918.5(SC5D):c.*622C>T rs184338020 0.00080
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_014762.4(DHCR24):c.*577C>T rs57714270 0.00065
NM_014762.4(DHCR24):c.*316T>G rs74072037 0.00063
NM_014762.4(DHCR24):c.731C>T (p.Pro244Leu) rs138667252 0.00061
NM_001360.3(DHCR7):c.-6-4G>A rs183610891 0.00056
NM_006918.5(SC5D):c.*3937C>T rs187660234 0.00056
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_014762.4(DHCR24):c.463G>A (p.Val155Met) rs138933459 0.00051
NM_001360.3(DHCR7):c.*424G>A rs886048616 0.00048
NM_006918.5(SC5D):c.*4087T>C rs192923811 0.00045
NM_006918.5(SC5D):c.*2653A>T rs758365341 0.00043
NM_001360.3(DHCR7):c.*85C>T rs528375215 0.00042
NM_001360.3(DHCR7):c.400G>T (p.Val134Leu) rs201466849 0.00041
NM_014762.4(DHCR24):c.-11G>A rs368314999 0.00041
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_006918.5(SC5D):c.*628C>T rs973950376 0.00038
NM_006918.5(SC5D):c.*3095G>A rs190358763 0.00035
NM_006918.5(SC5D):c.*1685C>T rs148657439 0.00033
NM_006918.5(SC5D):c.*5255A>T rs557724633 0.00033
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_006918.5(SC5D):c.*3184A>G rs886047864 0.00031
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_006918.5(SC5D):c.*5357T>C rs576690007 0.00030
NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) rs139166382 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_014762.4(DHCR24):c.*2394A>C rs548629632 0.00027
NM_014762.4(DHCR24):c.615C>T (p.Ser205=) rs147213053 0.00026
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_006918.5(SC5D):c.*3065C>T rs756525915 0.00021
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079 0.00020
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001360.3(DHCR7):c.*417C>T rs537429160 0.00019
NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr) rs142897396 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_006918.5(SC5D):c.*4469G>A rs73017147 0.00018
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.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_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_006918.5(SC5D):c.*313A>T rs553818571 0.00014
NM_006918.5(SC5D):c.*4597A>T rs571819564 0.00014
NM_014762.3(DHCR24):c.-77C>T rs548661780 0.00013
NM_014762.4(DHCR24):c.-42A>G rs371075692 0.00013
NM_014762.4(DHCR24):c.1329G>A (p.Pro443=) rs142984207 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001360.3(DHCR7):c.1088G>A (p.Arg363His) rs200539324 0.00012
NM_006918.4(SC5D):c.-94C>G rs886047848 0.00012
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392 0.00011
NM_001360.3(DHCR7):c.*790C>T rs12407 0.00011
NM_001360.3(DHCR7):c.127G>A (p.Val43Ile) rs200984695 0.00011
NM_001360.3(DHCR7):c.431A>G (p.Gln144Arg) rs776246504 0.00011
NM_001360.3(DHCR7):c.485C>T (p.Ala162Val) rs398123606 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_006918.5(SC5D):c.*1012T>C rs886047853 0.00011
NM_006918.5(SC5D):c.*3110G>A rs747694342 0.00011
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_006918.5(SC5D):c.*5200C>T rs183946033 0.00010
NM_006918.5(SC5D):c.344-15C>T rs570720353 0.00010
NM_014762.4(DHCR24):c.*1881G>A rs757634950 0.00010
NM_014762.4(DHCR24):c.*27dup rs757256992 0.00010
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_006918.5(SC5D):c.*1681T>C rs1020460658 0.00009
NM_006918.5(SC5D):c.*3003T>A rs915768614 0.00009
NM_006918.5(SC5D):c.*3599C>T rs886047868 0.00009
NM_006918.5(SC5D):c.753C>T (p.Gly251=) rs201959036 0.00009
NM_014762.4(DHCR24):c.*1264T>C rs553462271 0.00009
NM_014762.4(DHCR24):c.*1389T>C rs140078801 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_001360.3(DHCR7):c.122C>T (p.Ala41Val) rs761265690 0.00008
NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp) rs772572550 0.00008
NM_006918.5(SC5D):c.*5855G>A rs762824572 0.00008
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 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_001360.3(DHCR7):c.1405C>T (p.Arg469Cys) rs148660993 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_006918.5(SC5D):c.*5534C>G rs768733065 0.00007
NM_006918.5(SC5D):c.444+11T>C rs760625340 0.00007
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 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.83A>C (p.Lys28Thr) rs371449777 0.00006
NM_001360.3(DHCR7):c.-146C>T rs903720947 0.00006
NM_001360.3(DHCR7):c.-34T>G rs145915789 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys) rs199506852 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_006918.5(SC5D):c.*1860A>G rs886047859 0.00006
NM_006918.5(SC5D):c.*3106G>A rs886047863 0.00006
NM_006918.5(SC5D):c.*5061A>G rs886047875 0.00006
NM_006918.5(SC5D):c.*5324A>C rs886047879 0.00006
NM_006918.5(SC5D):c.*5717C>G rs912515665 0.00006
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_014762.4(DHCR24):c.*2119C>T rs886046414 0.00006
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.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.61T>C (p.Cys21Arg) rs751804153 0.00005
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) rs370748173 0.00005
NM_001360.3(DHCR7):c.418G>A (p.Val140Met) rs373908315 0.00005
NM_001360.3(DHCR7):c.571G>A (p.Val191Ile) rs532635888 0.00005
NM_006918.5(SC5D):c.*229G>A rs928598332 0.00005
NM_014762.4(DHCR24):c.*1073C>G rs1044074687 0.00005
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492 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.613A>G (p.Met205Val) rs147321244 0.00004
NM_001360.3(DHCR7):c.*57C>T rs182965373 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001360.3(DHCR7):c.1156G>A (p.Asp386Asn) rs369837196 0.00004
NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser) rs201847193 0.00004
NM_001360.3(DHCR7):c.160G>A (p.Val54Ile) rs779222334 0.00004
NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp) rs775735710 0.00004
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_001360.3(DHCR7):c.770C>T (p.Ala257Val) rs770925697 0.00004
NM_006918.5(SC5D):c.*160G>A rs568068471 0.00004
NM_006918.5(SC5D):c.*1720C>T rs1207486166 0.00004
NM_006918.5(SC5D):c.*2520A>G rs886047861 0.00004
NM_006918.5(SC5D):c.*4576T>A rs183742147 0.00004
NM_006918.5(SC5D):c.*5630C>T rs886047881 0.00004
NM_006918.5(SC5D):c.*584C>T rs1035758340 0.00004
NM_014762.4(DHCR24):c.*1267G>A rs1175475634 0.00004
NM_014762.4(DHCR24):c.*278G>A rs772933580 0.00004
NM_014762.4(DHCR24):c.*676C>G rs762917924 0.00004
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834 0.00003
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681 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.473G>A (p.Arg158His) rs761927223 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.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253 0.00003
NM_001360.3(DHCR7):c.*4C>T rs371307569 0.00003
NM_001360.3(DHCR7):c.*761A>T rs886048611 0.00003
NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser) rs902179640 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr) rs150563256 0.00003
NM_001360.3(DHCR7):c.736G>A (p.Val246Ile) rs759967245 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_006918.5(SC5D):c.*2212C>A rs930790807 0.00003
NM_006918.5(SC5D):c.*3346G>A rs745556623 0.00003
NM_006918.5(SC5D):c.*4432T>A rs188860035 0.00003
NM_014762.4(DHCR24):c.*984G>A rs776318516 0.00003
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374 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.1494G>C (p.Lys498Asn) rs377290147 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.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.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737 0.00002
NM_001360.3(DHCR7):c.*261G>A rs886048617 0.00002
NM_001360.3(DHCR7):c.*700G>A rs886048612 0.00002
NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg) rs765707139 0.00002
NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn) rs372055524 0.00002
NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp) rs371873032 0.00002
NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln) rs886043122 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.520T>G (p.Phe174Val) rs886044698 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001360.3(DHCR7):c.99-16G>A rs993275449 0.00002
NM_006918.5(SC5D):c.*1305A>C rs750271628 0.00002
NM_006918.5(SC5D):c.*3246C>T rs1274821065 0.00002
NM_006918.5(SC5D):c.*4454G>A rs1026656844 0.00002
NM_006918.5(SC5D):c.*598T>C rs886047852 0.00002
NM_014762.4(DHCR24):c.*172A>G rs886046420 0.00002
NM_014762.4(DHCR24):c.718C>T (p.Leu240=) rs191246223 0.00002
NM_000784.3(CYP27A1):c.-162C>T rs886055629 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.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.1195G>T (p.Val399Leu) rs1453048118 0.00001
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=) rs748358246 0.00001
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser) rs1337764272 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.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.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.1591del (p.Cys531fs) rs755723759 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu) rs531504325 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.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754 0.00001
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His) rs1235744900 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.667G>A (p.Glu223Lys) rs760323157 0.00001
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro) rs1943398664 0.00001
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg) rs746666035 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.883G>C (p.Ala295Pro) rs371133296 0.00001
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln) rs769640126 0.00001
NM_001360.3(DHCR7):c.*101C>G rs1466730753 0.00001
NM_001360.3(DHCR7):c.*25G>A rs778207094 0.00001
NM_001360.3(DHCR7):c.*644G>A rs886048614 0.00001
NM_001360.3(DHCR7):c.*765G>A rs777137931 0.00001
NM_001360.3(DHCR7):c.-132+3G>A rs886048618 0.00001
NM_001360.3(DHCR7):c.-145C>G rs1398299576 0.00001
NM_001360.3(DHCR7):c.1083C>A (p.Phe361Leu) rs780088227 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr) rs750989470 0.00001
NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile) rs757861528 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr) rs763333510 0.00001
NM_001360.3(DHCR7):c.412+4G>A rs776841323 0.00001
NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr) rs767716202 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn) rs368269558 0.00001
NM_001360.3(DHCR7):c.52G>A (p.Val18Ile) rs770947907 0.00001
NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr) rs542744675 0.00001
NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp) rs769583377 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.658A>T (p.Met220Leu) rs200659923 0.00001
NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys) rs373121544 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.756C>T (p.Asn252=) rs774666247 0.00001
NM_001360.3(DHCR7):c.778C>G (p.Arg260Gly) rs777617141 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys) rs754992933 0.00001
NM_001360.3(DHCR7):c.956C>T (p.Thr319Met) rs766583874 0.00001
NM_006918.5(SC5D):c.*1711T>C rs886047857 0.00001
NM_006918.5(SC5D):c.*1818A>G rs886047858 0.00001
NM_006918.5(SC5D):c.*3225G>A rs886047866 0.00001
NM_006918.5(SC5D):c.*4400T>C rs886047872 0.00001
NM_006918.5(SC5D):c.*5260A>G rs565484939 0.00001
NM_006918.5(SC5D):c.*5640T>C rs886047882 0.00001
NM_006918.5(SC5D):c.224G>A (p.Arg75Gln) rs780028779 0.00001
NM_006918.5(SC5D):c.344-8T>C rs765331892 0.00001
NM_006918.5(SC5D):c.843A>G (p.Ser281=) rs778899115 0.00001
NM_014762.4(DHCR24):c.*125A>G rs914940982 0.00001
NM_014762.4(DHCR24):c.*1876T>C rs972764548 0.00001
NM_014762.4(DHCR24):c.*2468T>C rs1308283692 0.00001
NM_014762.4(DHCR24):c.*2503C>T rs886046412 0.00001
NM_014762.4(DHCR24):c.*2514A>G rs532882730 0.00001
NM_014762.4(DHCR24):c.1331G>A (p.Arg444His) rs747327620 0.00001
NM_014762.4(DHCR24):c.1431C>T (p.Asn477=) rs1453549055 0.00001
NM_014762.4(DHCR24):c.1460G>A (p.Gly487Asp) rs776954529 0.00001
NM_014762.4(DHCR24):c.712G>A (p.Val238Ile) rs886046421 0.00001
NM_014762.4(DHCR24):c.798C>T (p.Phe266=) rs142421002 0.00001
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
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+5G>C rs370304209
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.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.1060G>A (p.Asp354Asn) rs2105980881
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.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.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.1114G>T (p.Gly372Trp) rs369969903
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.1130A>G (p.His377Arg)
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met) rs2105980957
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+3A>G rs1943757633
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala) rs2105981055
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
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>C (p.Val413Ala)
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+5G>A
NM_000784.4(CYP27A1):c.1264-14A>G rs1285698631
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser) rs774127681
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.1328G>T (p.Ser443Ile)
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala) rs753166698
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
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.1379T>G (p.Ile460Ser)
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.1409G>T (p.Gly470Val)
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu) rs200883871
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr) rs1372707807
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) rs2105981320
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His) rs2105981325
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val) rs1024898619
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.1477-8C>G
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
NM_000784.4(CYP27A1):c.1499T>C (p.Val500Ala)
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp) rs1943396793
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
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.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.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.1540A>G (p.Ile514Val) rs1178180058
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
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.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.1596del (p.Ter532TrpextTer?) rs1553616555
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.185G>A (p.Arg62His)
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) 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.219C>A (p.Phe73Leu)
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.232G>C (p.Ala78Pro)
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly) rs867496731
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu) rs2106479200
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe) rs1170171291
NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
NM_000784.4(CYP27A1):c.275A>G (p.Tyr92Cys)
NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
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.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.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly) rs1943692342
NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
NM_000784.4(CYP27A1):c.420C>A (p.His140Gln) rs139415581
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
NM_000784.4(CYP27A1):c.447-3C>A
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.455A>C (p.His152Pro) rs768932304
NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
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.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly) rs59443548
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu) rs200753815
NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val) rs773103625
NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys) rs1943725580
NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
NM_000784.4(CYP27A1):c.556A>G (p.Met186Val)
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala) rs1203579586
NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg) rs2105980019
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr) rs1943727741
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser) rs2105980045
NM_000784.4(CYP27A1):c.647-3C>A rs1943729710
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln) rs760323157
NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
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.706G>A (p.Asp236Asn) rs144068826
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
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.746A>T (p.Gln249Leu)
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
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.785G>A (p.Arg262His) rs757682669
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu) rs757682669
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala) rs1167915356
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys) rs774999308
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.851A>G (p.Lys284Arg)
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys) rs2105980394
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe) rs2105980402
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu) rs1412455358
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.905C>A (p.Pro302Gln)
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe) rs2105980439
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro) rs1275856308
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys) rs2105980462
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr) rs1275043449
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser) rs1399829248
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
NM_001360.3(DHCR7):c.*20G>T rs747532529
NM_001360.3(DHCR7):c.*324C>T rs759058043
NM_001360.3(DHCR7):c.*438G>A rs886048615
NM_001360.3(DHCR7):c.*63G>T rs918545080
NM_001360.3(DHCR7):c.*681T>C rs886048613
NM_001360.3(DHCR7):c.*723C>A rs1024548576
NM_001360.3(DHCR7):c.-192C>T rs886048619
NM_001360.3(DHCR7):c.-209G>A rs886048620
NM_001360.3(DHCR7):c.1001C>G (p.Thr334Ser)
NM_001360.3(DHCR7):c.1001C>T (p.Thr334Ile)
NM_001360.3(DHCR7):c.1004C>T (p.Pro335Leu)
NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del) rs1555145633
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro) rs199957106
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp) rs1409887214
NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val) rs1949272319
NM_001360.3(DHCR7):c.106G>A (p.Asp36Asn) rs2120355049
NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro) rs1555145619
NM_001360.3(DHCR7):c.1093G>T (p.Asp365Tyr)
NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val) rs1555145614
NM_001360.3(DHCR7):c.109T>G (p.Trp37Gly)
NM_001360.3(DHCR7):c.1141T>C (p.Ser381Pro)
NM_001360.3(DHCR7):c.1156G>C (p.Asp386His)
NM_001360.3(DHCR7):c.1163A>C (p.Gln388Pro)
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.1170C>A (p.His390Gln)
NM_001360.3(DHCR7):c.1172A>C (p.His391Pro)
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1215C>G (p.His405Gln)
NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu) rs1949268068
NM_001360.3(DHCR7):c.121G>C (p.Ala41Pro)
NM_001360.3(DHCR7):c.1270G>T (p.Gly424Cys)
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe) rs1565584679
NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val) rs1244124212
NM_001360.3(DHCR7):c.1321A>G (p.Thr441Ala) rs749728888
NM_001360.3(DHCR7):c.1324C>T (p.His442Tyr)
NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup) rs766416330
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1359C>T (p.Ser453=)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe) rs1949264089
NM_001360.3(DHCR7):c.1373A>G (p.Asp458Gly)
NM_001360.3(DHCR7):c.1375T>C (p.Trp459Arg)
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1379A>G (p.Glu460Gly)
NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter) rs1453500228
NM_001360.3(DHCR7):c.1393G>T (p.Ala465Ser)
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.148G>A (p.Ala50Thr)
NM_001360.3(DHCR7):c.14C>G (p.Ser5Trp)
NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu) rs1127869
NM_001360.3(DHCR7):c.156C>G (p.Phe52Leu)
NM_001360.3(DHCR7):c.207_208delinsCC (p.Gly70Arg) rs2120355002
NM_001360.3(DHCR7):c.214G>A (p.Val72Met)
NM_001360.3(DHCR7):c.220G>A (p.Asp74Asn)
NM_001360.3(DHCR7):c.230C>T (p.Thr77Ile)
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.239C>T (p.Ala80Val) rs1949376985
NM_001360.3(DHCR7):c.249G>A (p.Ser83=)
NM_001360.3(DHCR7):c.299A>G (p.Tyr100Cys)
NM_001360.3(DHCR7):c.306G>C (p.Leu102Phe)
NM_001360.3(DHCR7):c.310G>T (p.Val104Phe)
NM_001360.3(DHCR7):c.314C>A (p.Thr105Asn)
NM_001360.3(DHCR7):c.322-9G>A rs2135945639
NM_001360.3(DHCR7):c.322G>T (p.Val108Leu)
NM_001360.3(DHCR7):c.335C>T (p.Thr112Met)
NM_001360.3(DHCR7):c.353G>A (p.Cys118Tyr)
NM_001360.3(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.3(DHCR7):c.37A>G (p.Lys13Glu)
NM_001360.3(DHCR7):c.38A>G (p.Lys13Arg)
NM_001360.3(DHCR7):c.412+3A>G rs786200926
NM_001360.3(DHCR7):c.413-12C>T
NM_001360.3(DHCR7):c.415G>C (p.Val139Leu)
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.438_439inv (p.Gly147Ser)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro) rs1949390350
NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe) rs1949346801
NM_001360.3(DHCR7):c.475T>C (p.Phe159Leu)
NM_001360.3(DHCR7):c.488A>G (p.His163Arg)
NM_001360.3(DHCR7):c.496T>G (p.Ser166Ala)
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu) rs1555146436
NM_001360.3(DHCR7):c.550G>A (p.Ala184Thr)
NM_001360.3(DHCR7):c.560T>C (p.Leu187Pro) rs1565587998
NM_001360.3(DHCR7):c.578C>G (p.Thr193Ser)
NM_001360.3(DHCR7):c.587T>C (p.Met196Thr)
NM_001360.3(DHCR7):c.626+1013G>A
NM_001360.3(DHCR7):c.626+3A>G
NM_001360.3(DHCR7):c.626+7T>A rs1949344052
NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala) rs976105626
NM_001360.3(DHCR7):c.646T>G (p.Phe216Val)
NM_001360.3(DHCR7):c.650A>G (p.Tyr217Cys)
NM_001360.3(DHCR7):c.654C>A (p.Asn218Lys) rs1949321790
NM_001360.3(DHCR7):c.658A>G (p.Met220Val)
NM_001360.3(DHCR7):c.660G>C (p.Met220Ile) rs767377692
NM_001360.3(DHCR7):c.660G>T (p.Met220Ile)
NM_001360.3(DHCR7):c.661A>G (p.Met221Val)
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg) rs943223142
NM_001360.3(DHCR7):c.676A>G (p.Asn226Asp)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.687C>G (p.Ile229Met) rs267603172
NM_001360.3(DHCR7):c.694T>C (p.Trp232Arg)
NM_001360.3(DHCR7):c.700G>C (p.Asp234His)
NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser) rs1555146061
NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr) rs146867923
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.3(DHCR7):c.760T>C (p.Ser254Pro)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser) rs772639348
NM_001360.3(DHCR7):c.779G>A (p.Arg260Gln)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.791G>A (p.Ser264Asn)
NM_001360.3(DHCR7):c.803A>G (p.Asn268Ser)
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.809T>C (p.Met270Thr)
NM_001360.3(DHCR7):c.830A>G (p.Gln277Arg)
NM_001360.3(DHCR7):c.831+4C>T
NM_001360.3(DHCR7):c.835A>G (p.Ile279Val)
NM_001360.3(DHCR7):c.851TCT[1] (p.Phe285del)
NM_001360.3(DHCR7):c.858G>T (p.Trp286Cys)
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.909G>T (p.Gly303=) rs2135941816
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.928G>A (p.Asp310Asn)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys) rs1555145862
NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu) rs1949301977
NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala) rs1362583959
NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro) rs1949301409
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360.3(DHCR7):c.979T>C (p.Tyr327His)
NM_006918.4(SC5D):c.-127T>G rs886047847
NM_006918.4(SC5D):c.-91C>G rs886047849
NM_006918.5(SC5D):c.*1087_*1090del rs886047854
NM_006918.5(SC5D):c.*1196T>A rs886047855
NM_006918.5(SC5D):c.*1223A>T rs886047856
NM_006918.5(SC5D):c.*2363G>A rs1947996125
NM_006918.5(SC5D):c.*2477C>G rs886047860
NM_006918.5(SC5D):c.*2648A>T rs549226558
NM_006918.5(SC5D):c.*2802A>T rs1947999658
NM_006918.5(SC5D):c.*2819T>C rs534935957
NM_006918.5(SC5D):c.*2864G>T rs1204504455
NM_006918.5(SC5D):c.*2879G>T rs1948000294
NM_006918.5(SC5D):c.*2943C>T rs781723851
NM_006918.5(SC5D):c.*3006C>T rs890214835
NM_006918.5(SC5D):c.*3116T>C rs959383306
NM_006918.5(SC5D):c.*3175C>T rs1948004049
NM_006918.5(SC5D):c.*3200G>A rs886047865
NM_006918.5(SC5D):c.*3312A>T rs886047867
NM_006918.5(SC5D):c.*3665C>T rs886047869
NM_006918.5(SC5D):c.*3793_*3794del rs879172922
NM_006918.5(SC5D):c.*3955C>T rs886047871
NM_006918.5(SC5D):c.*4752A>T rs886047873
NM_006918.5(SC5D):c.*4756A>G rs566838476
NM_006918.5(SC5D):c.*5018T>C rs886047874
NM_006918.5(SC5D):c.*512G>A rs886047851
NM_006918.5(SC5D):c.*5132C>T rs886047876
NM_006918.5(SC5D):c.*5210C>T rs1948020352
NM_006918.5(SC5D):c.*5239_*5241del rs886047877
NM_006918.5(SC5D):c.*5258del rs886047878
NM_006918.5(SC5D):c.*5282C>T rs73017154
NM_006918.5(SC5D):c.*5329G>C rs886047880
NM_006918.5(SC5D):c.*5440A>G rs1948022595
NM_006918.5(SC5D):c.*5834A>G rs886047883
NM_006918.5(SC5D):c.*99C>T rs1947977662
NM_006918.5(SC5D):c.151A>G (p.Thr51Ala) rs1565568966
NM_006918.5(SC5D):c.181G>A (p.Ala61Thr) rs1947941103
NM_006918.5(SC5D):c.447C>T (p.Arg149=) rs886047850
NM_006918.5(SC5D):c.535C>T (p.Pro179Ser) rs757562608
NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)
NM_006918.5(SC5D):c.624T>G (p.Ile208Met) rs1947973083
NM_006918.5(SC5D):c.656T>C (p.Leu219Ser) rs2134270945
NM_006918.5(SC5D):c.662C>T (p.Pro221Leu) rs1947973564
NM_014762.4(DHCR24):c.*1121A>G rs886046415
NM_014762.4(DHCR24):c.*1137G>C rs768244621
NM_014762.4(DHCR24):c.*1535G>A rs1646870155
NM_014762.4(DHCR24):c.*180_*181del rs886046419
NM_014762.4(DHCR24):c.*2245A>T rs886046413
NM_014762.4(DHCR24):c.*225T>C rs886046418
NM_014762.4(DHCR24):c.*426G>A rs1646876717
NM_014762.4(DHCR24):c.*434A>T rs886046417
NM_014762.4(DHCR24):c.*508T>C rs886046416
NM_014762.4(DHCR24):c.*597T>C rs1646875615
NM_014762.4(DHCR24):c.*600G>A rs184125615
NM_014762.4(DHCR24):c.-27G>C rs532827290
NM_014762.4(DHCR24):c.-27G>T rs532827290
NM_014762.4(DHCR24):c.1024A>G (p.Ile342Val) rs2101555676
NM_014762.4(DHCR24):c.1155G>A (p.Gln385=) rs1646893615
NM_014762.4(DHCR24):c.1228A>G (p.Ile410Val) rs1646890427
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs) rs1570178668
NM_014762.4(DHCR24):c.1397+2T>A rs1314761103
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter) rs563822834
NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg) rs2101578761
NM_014762.4(DHCR24):c.388-10G>T rs774425757
NM_014762.4(DHCR24):c.500T>C (p.Leu167Ser) rs1557437639
NM_014762.4(DHCR24):c.726C>A (p.Phe242Leu) rs138043637
NM_014762.4(DHCR24):c.811C>A (p.Leu271Ile) rs886042137

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