Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57764519T>ACA385504013CYP27B1c.1076A>T (p.Glu359Val)
c.1053A>T (p.Ter351Cys)
c.995A>T (p.Glu332Val)
c.290A>T (p.Glu97Val)
n.1134A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57764519T>CCA385504011CYP27B1c.1076A>G (p.Glu359Gly)
c.1053A>G (p.Ter351Trp)
c.995A>G (p.Glu332Gly)
c.290A>G (p.Glu97Gly)
n.1134A>G
12g.57764519T>GCA385504012CYP27B1c.1076A>C (p.Glu359Ala)
c.1053A>C (p.Ter351Cys)
c.995A>C (p.Glu332Ala)
c.290A>C (p.Glu97Ala)
n.1134A>C
12g.57764519T=CA2038987650CYP27B1c.1076A= (p.Glu359=)
c.1053A= (p.Ter351=)
c.995A= (p.Glu332=)
c.290A= (p.Glu97=)
n.1134A=
12g.57764520C>ACA385504015CYP27B1c.1075G>T (p.Glu359Ter)
c.1052G>T (p.Ter351Leu)
c.994G>T (p.Glu332Ter)
c.289G>T (p.Glu97Ter)
n.1133G>T
12g.57764520C>GCA385504017CYP27B1c.1075G>C (p.Glu359Gln)
c.1052G>C (p.Ter351Ser)
c.994G>C (p.Glu332Gln)
c.289G>C (p.Glu97Gln)
n.1133G>C
12g.57764520C>TCA385504018CYP27B1c.1075G>A (p.Glu359Lys)
c.1052G>A (p.Ter351=)
c.994G>A (p.Glu332Lys)
c.289G>A (p.Glu97Lys)
n.1133G>A
12g.57764521A>CCA385504020CYP27B1c.1074T>G (p.Tyr358Ter)
c.1051T>G (p.Ter351Gly)
c.993T>G (p.Tyr331Ter)
c.288T>G (p.Tyr96Ter)
n.1132T>G
 gnomAD v4
12g.57764521A>GCA480401848CYP27B1c.1074T>C (p.Tyr358=)
c.1051T>C (p.Ter351Arg)
c.993T>C (p.Tyr331=)
c.288T>C (p.Tyr96=)
n.1132T>C
12g.57764521A>TCA385504021CYP27B1c.1074T>A (p.Tyr358Ter)
c.1051T>A (p.Ter351Arg)
c.993T>A (p.Tyr331Ter)
c.288T>A (p.Tyr96Ter)
n.1132T>A
12g.57764522T>ACA385504022CYP27B1c.1073A>T (p.Tyr358Phe)
c.1050A>T (p.Val350=)
c.992A>T (p.Tyr331Phe)
c.287A>T (p.Tyr96Phe)
n.1131A>T
12g.57764522T>CCA385504024CYP27B1c.1073A>G (p.Tyr358Cys)
c.1050A>G (p.Val350=)
c.992A>G (p.Tyr331Cys)
c.287A>G (p.Tyr96Cys)
n.1131A>G
12g.57764522T>GCA385504025CYP27B1c.1073A>C (p.Tyr358Ser)
c.1050A>C (p.Val350=)
c.992A>C (p.Tyr331Ser)
c.287A>C (p.Tyr96Ser)
n.1131A>C
12g.57764523A>CCA385504027CYP27B1c.1072T>G (p.Tyr358Asp)
c.1049T>G (p.Val350Gly)
c.991T>G (p.Tyr331Asp)
c.286T>G (p.Tyr96Asp)
n.1130T>G
12g.57764523A>GCA385504028CYP27B1c.1072T>C (p.Tyr358His)
c.1049T>C (p.Val350Ala)
c.991T>C (p.Tyr331His)
c.286T>C (p.Tyr96His)
n.1130T>C
 gnomAD v4
12g.57764523A>TCA385504029CYP27B1c.1072T>A (p.Tyr358Asn)
c.1049T>A (p.Val350Glu)
c.991T>A (p.Tyr331Asn)
c.286T>A (p.Tyr96Asn)
n.1130T>A
12g.57764524C>ACA480401850CYP27B1c.1071G>T (p.Leu357=)
c.1048G>T (p.Val350Leu)
c.990G>T (p.Leu330=)
c.285G>T (p.Leu95=)
n.1129G>T
12g.57764524C=CA2038987654CYP27B1c.1071G= (p.Leu357=)
c.1048G= (p.Val350=)
c.990G= (p.Leu330=)
c.285G= (p.Leu95=)
n.1129G=
12g.57764524C>GCA6658248CYP27B1c.1071G>C (p.Leu357=)
c.1048G>C (p.Val350Leu)
c.990G>C (p.Leu330=)
c.285G>C (p.Leu95=)
n.1129G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764524C>TCA6658247CYP27B1c.1071G>A (p.Leu357=)
c.1048G>A (p.Val350Ile)
c.990G>A (p.Leu330=)
c.285G>A (p.Leu95=)
n.1129G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764525A>CCA385504031CYP27B1c.1070T>G (p.Leu357Arg)
c.1047T>G (p.Ser349=)
c.989T>G (p.Leu330Arg)
c.284T>G (p.Leu95Arg)
n.1128T>G
12g.57764525A>GCA385504034CYP27B1c.1070T>C (p.Leu357Pro)
c.1047T>C (p.Ser349=)
c.989T>C (p.Leu330Pro)
c.284T>C (p.Leu95Pro)
n.1128T>C
12g.57764525A>TCA385504032CYP27B1c.1070T>A (p.Leu357Gln)
c.1047T>A (p.Ser349=)
c.989T>A (p.Leu330Gln)
c.284T>A (p.Leu95Gln)
n.1128T>A
12g.57764526G>ACA480401851CYP27B1c.1069C>T (p.Leu357=)
c.1046C>T (p.Ser349Phe)
c.988C>T (p.Leu330=)
c.283C>T (p.Leu95=)
n.1127C>T
12g.57764526G>CCA385504036CYP27B1c.1069C>G (p.Leu357Val)
c.1046C>G (p.Ser349Cys)
c.988C>G (p.Leu330Val)
c.283C>G (p.Leu95Val)
n.1127C>G
 dbSNP gnomAD v4
12g.57764526G=CA2038987661CYP27B1c.1069C= (p.Leu357=)
c.1046C= (p.Ser349=)
c.988C= (p.Leu330=)
c.283C= (p.Leu95=)
n.1127C=
12g.57764526G>TCA385504037CYP27B1c.1069C>A (p.Leu357Met)
c.1046C>A (p.Ser349Tyr)
c.988C>A (p.Leu330Met)
c.283C>A (p.Leu95Met)
n.1127C>A
 dbSNP gnomAD v2 gnomAD v4
12g.57764527A=CA2038987670CYP27B1c.1068T= (p.Ala356=)
c.1045T= (p.Ser349=)
c.987T= (p.Ala329=)
c.282T= (p.Ala94=)
n.1126T=
12g.57764527A>CCA480401852CYP27B1c.1068T>G (p.Ala356=)
c.1045T>G (p.Ser349Ala)
c.987T>G (p.Ala329=)
c.282T>G (p.Ala94=)
n.1126T>G
 gnomAD v4
12g.57764527A>GCA6658249CYP27B1c.1068T>C (p.Ala356=)
c.1045T>C (p.Ser349Pro)
c.987T>C (p.Ala329=)
c.282T>C (p.Ala94=)
n.1126T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764527A>TCA480401853CYP27B1c.1068T>A (p.Ala356=)
c.1045T>A (p.Ser349Thr)
c.987T>A (p.Ala329=)
c.282T>A (p.Ala94=)
n.1126T>A
12g.57764528G>ACA385504041CYP27B1c.1067C>T (p.Ala356Val)
c.1044C>T (p.Gly348=)
c.986C>T (p.Ala329Val)
c.281C>T (p.Ala94Val)
n.1125C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57764528G>CCA385504044CYP27B1c.1067C>G (p.Ala356Gly)
c.1044C>G (p.Gly348=)
c.986C>G (p.Ala329Gly)
c.281C>G (p.Ala94Gly)
n.1125C>G
12g.57764528G=CA2038987680CYP27B1c.1067C= (p.Ala356=)
c.1044C= (p.Gly348=)
c.986C= (p.Ala329=)
c.281C= (p.Ala94=)
n.1125C=
12g.57764528G>TCA385504046CYP27B1c.1067C>A (p.Ala356Asp)
c.1044C>A (p.Gly348=)
c.986C>A (p.Ala329Asp)
c.281C>A (p.Ala94Asp)
n.1125C>A
12g.57764529C>ACA6658250CYP27B1c.1066G>T (p.Ala356Ser)
c.1043G>T (p.Gly348Val)
c.985G>T (p.Ala329Ser)
c.280G>T (p.Ala94Ser)
n.1124G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57764529C=CA2038987688CYP27B1c.1066G= (p.Ala356=)
c.1043G= (p.Gly348=)
c.985G= (p.Ala329=)
c.280G= (p.Ala94=)
n.1124G=
12g.57764529C>GCA385504049CYP27B1c.1066G>C (p.Ala356Pro)
c.1043G>C (p.Gly348Ala)
c.985G>C (p.Ala329Pro)
c.280G>C (p.Ala94Pro)
n.1124G>C
12g.57764529C>TCA385504051CYP27B1c.1066G>A (p.Ala356Thr)
c.1043G>A (p.Gly348Asp)
c.985G>A (p.Ala329Thr)
c.280G>A (p.Ala94Thr)
n.1124G>A
 gnomAD v4
12g.57764530C>ACA385504052CYP27B1c.1065G>T (p.Trp355Cys)
c.1042G>T (p.Gly348Cys)
c.984G>T (p.Trp328Cys)
c.279G>T (p.Trp93Cys)
n.1123G>T
 gnomAD v4
12g.57764530C>GCA385504054CYP27B1c.1065G>C (p.Trp355Cys)
c.1042G>C (p.Gly348Arg)
c.984G>C (p.Trp328Cys)
c.279G>C (p.Trp93Cys)
n.1123G>C
12g.57764530C>TCA385504056CYP27B1c.1065G>A (p.Trp355Ter)
c.1042G>A (p.Gly348Ser)
c.984G>A (p.Trp328Ter)
c.279G>A (p.Trp93Ter)
n.1123G>A
 ClinVar
12g.57764531C>ACA385504061CYP27B1c.1064G>T (p.Trp355Leu)
c.1041G>T (p.Leu347Phe)
c.983G>T (p.Trp328Leu)
c.278G>T (p.Trp93Leu)
n.1122G>T
12g.57764531C>GCA385504059CYP27B1c.1064G>C (p.Trp355Ser)
c.1041G>C (p.Leu347Phe)
c.983G>C (p.Trp328Ser)
c.278G>C (p.Trp93Ser)
n.1122G>C
12g.57764531C>TCA385504058CYP27B1c.1064G>A (p.Trp355Ter)
c.1041G>A (p.Leu347=)
c.983G>A (p.Trp328Ter)
c.278G>A (p.Trp93Ter)
n.1122G>A
12g.57764532A>CCA385504062CYP27B1c.1063T>G (p.Trp355Gly)
c.1040T>G (p.Leu347Trp)
c.982T>G (p.Trp328Gly)
c.277T>G (p.Trp93Gly)
n.1121T>G
12g.57764532A>GCA385504065CYP27B1c.1063T>C (p.Trp355Arg)
c.1040T>C (p.Leu347Ser)
c.982T>C (p.Trp328Arg)
c.277T>C (p.Trp93Arg)
n.1121T>C
12g.57764532A>TCA385504066CYP27B1c.1063T>A (p.Trp355Arg)
c.1040T>A (p.Leu347Ter)
c.982T>A (p.Trp328Arg)
c.277T>A (p.Trp93Arg)
n.1121T>A
12g.57764533A=CA2038987693CYP27B1c.1062T= (p.Ser354=)
c.1039T= (p.Leu347=)
c.981T= (p.Ser327=)
c.276T= (p.Ser92=)
n.1120T=
12g.57764533A>CCA480401854CYP27B1c.1062T>G (p.Ser354=)
c.1039T>G (p.Leu347Val)
c.981T>G (p.Ser327=)
c.276T>G (p.Ser92=)
n.1120T>G

Number of alleles fetched