Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57765017C>ACA385505129CYP27B1n.696G>T
c.865G>T (p.Ala289Ser)
c.842G>T (p.Cys281Phe)
c.784G>T (p.Ala262Ser)
c.79G>T (p.Ala27Ser)
c.696G>T
n.923G>T
n.584G>T
 gnomAD v4
12g.57765017C>GCA385505127CYP27B1n.696G>C
c.865G>C (p.Ala289Pro)
c.842G>C (p.Cys281Ser)
c.784G>C (p.Ala262Pro)
c.79G>C (p.Ala27Pro)
c.696G>C
n.923G>C
n.584G>C
12g.57765017C>TCA385505128CYP27B1n.696G>A
c.865G>A (p.Ala289Thr)
c.842G>A (p.Cys281Tyr)
c.784G>A (p.Ala262Thr)
c.79G>A (p.Ala27Thr)
c.696G>A
n.923G>A
n.584G>A
12g.57765018A=CA2038988552CYP27B1n.695T=
c.864T= (p.Phe288=)
c.841T= (p.Cys281=)
c.783T= (p.Phe261=)
c.78T= (p.Phe26=)
c.695T=
n.922T=
n.583T=
12g.57765018A>CCA385505130CYP27B1n.695T>G
c.864T>G (p.Phe288Leu)
c.841T>G (p.Cys281Gly)
c.783T>G (p.Phe261Leu)
c.78T>G (p.Phe26Leu)
c.695T>G
n.922T>G
n.583T>G
12g.57765018A>GCA480402064CYP27B1n.695T>C
c.864T>C (p.Phe288=)
c.841T>C (p.Cys281Arg)
c.783T>C (p.Phe261=)
c.78T>C (p.Phe26=)
c.695T>C
n.922T>C
n.583T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.57765018A>TCA385505131CYP27B1n.695T>A
c.864T>A (p.Phe288Leu)
c.841T>A (p.Cys281Ser)
c.783T>A (p.Phe261Leu)
c.78T>A (p.Phe26Leu)
c.695T>A
n.922T>A
n.583T>A
12g.57765019A>CCA385505133CYP27B1n.694T>G
c.863T>G (p.Phe288Cys)
c.840T>G (p.Val280=)
c.782T>G (p.Phe261Cys)
c.77T>G (p.Phe26Cys)
c.694T>G
n.921T>G
n.582T>G
 COSMIC
12g.57765019A>GCA385505134CYP27B1n.694T>C
c.863T>C (p.Phe288Ser)
c.840T>C (p.Val280=)
c.782T>C (p.Phe261Ser)
c.77T>C (p.Phe26Ser)
c.694T>C
n.921T>C
n.582T>C
 gnomAD v4
12g.57765019A>TCA385505135CYP27B1n.694T>A
c.863T>A (p.Phe288Tyr)
c.840T>A (p.Val280=)
c.782T>A (p.Phe261Tyr)
c.77T>A (p.Phe26Tyr)
c.694T>A
n.921T>A
n.582T>A
12g.57765020A>CCA385505136CYP27B1n.693T>G
c.862T>G (p.Phe288Val)
c.839T>G (p.Val280Gly)
c.781T>G (p.Phe261Val)
c.76T>G (p.Phe26Val)
c.693T>G
n.920T>G
n.581T>G
 ClinVar
12g.57765020A>GCA385505138CYP27B1n.693T>C
c.862T>C (p.Phe288Leu)
c.839T>C (p.Val280Ala)
c.781T>C (p.Phe261Leu)
c.76T>C (p.Phe26Leu)
c.693T>C
n.920T>C
n.581T>C
12g.57765020A>TCA385505137CYP27B1n.693T>A
c.862T>A (p.Phe288Ile)
c.839T>A (p.Val280Asp)
c.781T>A (p.Phe261Ile)
c.76T>A (p.Phe26Ile)
c.693T>A
n.920T>A
n.581T>A
12g.57765021C>ACA385505139CYP27B1n.692G>T
c.861G>T (p.Met287Ile)
c.838G>T (p.Val280Phe)
c.780G>T (p.Met260Ile)
c.75G>T (p.Met25Ile)
c.692G>T
n.919G>T
n.580G>T
12g.57765021C>GCA385505140CYP27B1n.692G>C
c.861G>C (p.Met287Ile)
c.838G>C (p.Val280Leu)
c.780G>C (p.Met260Ile)
c.75G>C (p.Met25Ile)
c.692G>C
n.919G>C
n.580G>C
12g.57765021C>TCA385505141CYP27B1n.692G>A
c.861G>A (p.Met287Ile)
c.838G>A (p.Val280Ile)
c.780G>A (p.Met260Ile)
c.75G>A (p.Met25Ile)
c.692G>A
n.919G>A
n.580G>A
12g.57765022A=CA2038988556CYP27B1n.691T=
c.860T= (p.Met287=)
c.837T= (p.Asp279=)
c.779T= (p.Met260=)
c.74T= (p.Met25=)
c.691T=
n.918T=
n.579T=
12g.57765022A>CCA6658337CYP27B1n.691T>G
c.860T>G (p.Met287Arg)
c.837T>G (p.Asp279Glu)
c.779T>G (p.Met260Arg)
c.74T>G (p.Met25Arg)
c.691T>G
n.918T>G
n.579T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765022A>GCA385505142CYP27B1n.691T>C
c.860T>C (p.Met287Thr)
c.837T>C (p.Asp279=)
c.779T>C (p.Met260Thr)
c.74T>C (p.Met25Thr)
c.691T>C
n.918T>C
n.579T>C
12g.57765022A>TCA385505143CYP27B1n.691T>A
c.860T>A (p.Met287Lys)
c.837T>A (p.Asp279Glu)
c.779T>A (p.Met260Lys)
c.74T>A (p.Met25Lys)
c.691T>A
n.918T>A
n.579T>A
12g.57765023T>ACA385505144CYP27B1n.690A>T
c.859A>T (p.Met287Leu)
c.836A>T (p.Asp279Val)
c.778A>T (p.Met260Leu)
c.73A>T (p.Met25Leu)
c.690A>T
n.917A>T
n.578A>T
 gnomAD v4
12g.57765023T>CCA385505145CYP27B1n.690A>G
c.859A>G (p.Met287Val)
c.836A>G (p.Asp279Gly)
c.778A>G (p.Met260Val)
c.73A>G (p.Met25Val)
c.690A>G
n.917A>G
n.578A>G
12g.57765023T>GCA385505146CYP27B1n.690A>C
c.859A>C (p.Met287Leu)
c.836A>C (p.Asp279Ala)
c.778A>C (p.Met260Leu)
c.73A>C (p.Met25Leu)
c.690A>C
n.917A>C
n.578A>C
12g.57765024C>ACA385505147CYP27B1n.689G>T
c.858G>T (p.Gln286His)
c.835G>T (p.Asp279Tyr)
c.777G>T (p.Gln259His)
c.72G>T (p.Gln24His)
c.689G>T
n.916G>T
n.577G>T
12g.57765024C>GCA385505148CYP27B1n.689G>C
c.858G>C (p.Gln286His)
c.835G>C (p.Asp279His)
c.777G>C (p.Gln259His)
c.72G>C (p.Gln24His)
c.689G>C
n.916G>C
n.577G>C
12g.57765024C>TCA480402065CYP27B1n.689G>A
c.858G>A (p.Gln286=)
c.835G>A (p.Asp279Asn)
c.777G>A (p.Gln259=)
c.72G>A (p.Gln24=)
c.689G>A
n.916G>A
n.577G>A
 gnomAD v4
12g.57765025T>ACA385505149CYP27B1n.688A>T
c.857A>T (p.Gln286Leu)
c.834A>T (p.Pro278=)
c.776A>T (p.Gln259Leu)
c.71A>T (p.Gln24Leu)
c.688A>T
n.915A>T
n.576A>T
12g.57765025T>CCA385505151CYP27B1n.688A>G
c.857A>G (p.Gln286Arg)
c.834A>G (p.Pro278=)
c.776A>G (p.Gln259Arg)
c.71A>G (p.Gln24Arg)
c.688A>G
n.915A>G
n.576A>G
12g.57765025T>GCA385505150CYP27B1n.688A>C
c.857A>C (p.Gln286Pro)
c.834A>C (p.Pro278=)
c.776A>C (p.Gln259Pro)
c.71A>C (p.Gln24Pro)
c.688A>C
n.915A>C
n.576A>C
12g.57765026G>ACA385505152CYP27B1n.687C>T
c.856C>T (p.Gln286Ter)
c.833C>T (p.Pro278Leu)
c.775C>T (p.Gln259Ter)
c.70C>T (p.Gln24Ter)
c.687C>T
n.914C>T
n.575C>T
 dbSNP gnomAD v4
12g.57765026G>CCA385505153CYP27B1n.687C>G
c.856C>G (p.Gln286Glu)
c.833C>G (p.Pro278Arg)
c.775C>G (p.Gln259Glu)
c.70C>G (p.Gln24Glu)
c.687C>G
n.914C>G
n.575C>G
12g.57765026G=CA2038988560CYP27B1n.687C=
c.856C= (p.Gln286=)
c.833C= (p.Pro278=)
c.775C= (p.Gln259=)
c.70C= (p.Gln24=)
c.687C=
n.914C=
n.575C=
12g.57765026G>TCA385505154CYP27B1n.687C>A
c.856C>A (p.Gln286Lys)
c.833C>A (p.Pro278Gln)
c.775C>A (p.Gln259Lys)
c.70C>A (p.Gln24Lys)
c.687C>A
n.914C>A
n.575C>A
12g.57765027G>ACA480402066CYP27B1n.686C>T
c.855C>T (p.Asp285=)
c.832C>T (p.Pro278Ser)
c.774C>T (p.Asp258=)
c.69C>T (p.Asp23=)
c.686C>T
n.913C>T
n.574C>T
12g.57765027G>CCA385505155CYP27B1n.686C>G
c.855C>G (p.Asp285Glu)
c.832C>G (p.Pro278Ala)
c.774C>G (p.Asp258Glu)
c.69C>G (p.Asp23Glu)
c.686C>G
n.913C>G
n.574C>G
12g.57765027G>TCA385505156CYP27B1n.686C>A
c.855C>A (p.Asp285Glu)
c.832C>A (p.Pro278Thr)
c.774C>A (p.Asp258Glu)
c.69C>A (p.Asp23Glu)
c.686C>A
n.913C>A
n.574C>A
12g.57765028T>ACA385505157CYP27B1n.685A>T
c.854A>T (p.Asp285Val)
c.831A>T (p.Gly277=)
c.773A>T (p.Asp258Val)
c.68A>T (p.Asp23Val)
c.685A>T
n.912A>T
n.573A>T
12g.57765028T>CCA385505158CYP27B1n.685A>G
c.854A>G (p.Asp285Gly)
c.831A>G (p.Gly277=)
c.773A>G (p.Asp258Gly)
c.68A>G (p.Asp23Gly)
c.685A>G
n.912A>G
n.573A>G
12g.57765028T>GCA385505159CYP27B1n.685A>C
c.854A>C (p.Asp285Ala)
c.831A>C (p.Gly277=)
c.773A>C (p.Asp258Ala)
c.68A>C (p.Asp23Ala)
c.685A>C
n.912A>C
n.573A>C
 gnomAD v4
12g.57765029C>ACA385505160CYP27B1n.684G>T
c.853G>T (p.Asp285Tyr)
c.830G>T (p.Gly277Val)
c.772G>T (p.Asp258Tyr)
c.67G>T (p.Asp23Tyr)
c.684G>T
n.911G>T
n.572G>T
12g.57765029C>GCA385505161CYP27B1n.684G>C
c.853G>C (p.Asp285His)
c.830G>C (p.Gly277Ala)
c.772G>C (p.Asp258His)
c.67G>C (p.Asp23His)
c.684G>C
n.911G>C
n.572G>C
12g.57765029C>TCA385505162CYP27B1n.684G>A
c.853G>A (p.Asp285Asn)
c.830G>A (p.Gly277Glu)
c.772G>A (p.Asp258Asn)
c.67G>A (p.Asp23Asn)
c.684G>A
n.911G>A
n.572G>A
 gnomAD v4
12g.57765030_57765031delCA912996393CYP27B1n.683_684del
c.852_853del (p.Trp284Ter)
c.829_830del (p.Gly277ThrfsTer20)
c.771_772del (p.Trp257Ter)
c.66_67del (p.Trp22Ter)
c.683_684del
n.910_911del
n.571_572del
12g.57765030C>ACA385505165CYP27B1n.683G>T
c.852G>T (p.Trp284Cys)
c.829G>T (p.Gly277Ter)
c.771G>T (p.Trp257Cys)
c.66G>T (p.Trp22Cys)
c.683G>T
n.910G>T
n.571G>T
12g.57765030C>GCA385505163CYP27B1n.683G>C
c.852G>C (p.Trp284Cys)
c.829G>C (p.Gly277Arg)
c.771G>C (p.Trp257Cys)
c.66G>C (p.Trp22Cys)
c.683G>C
n.910G>C
n.571G>C
12g.57765030C>TCA385505164CYP27B1n.683G>A
c.852G>A (p.Trp284Ter)
c.829G>A (p.Gly277Arg)
c.771G>A (p.Trp257Ter)
c.66G>A (p.Trp22Ter)
c.683G>A
n.910G>A
n.571G>A
12g.57765031C>ACA385505166CYP27B1n.682G>T
c.851G>T (p.Trp284Leu)
c.828G>T (p.Leu276=)
c.770G>T (p.Trp257Leu)
c.65G>T (p.Trp22Leu)
c.682G>T
n.909G>T
n.570G>T
12g.57765031C>GCA385505167CYP27B1n.682G>C
c.851G>C (p.Trp284Ser)
c.828G>C (p.Leu276=)
c.770G>C (p.Trp257Ser)
c.65G>C (p.Trp22Ser)
c.682G>C
n.909G>C
n.570G>C
 gnomAD v4
12g.57765031C>TCA385505168CYP27B1n.682G>A
c.851G>A (p.Trp284Ter)
c.828G>A (p.Leu276=)
c.770G>A (p.Trp257Ter)
c.65G>A (p.Trp22Ter)
c.682G>A
n.909G>A
n.570G>A
12g.57765032A>CCA385505169CYP27B1n.681T>G
c.850T>G (p.Trp284Gly)
c.827T>G (p.Leu276Arg)
c.769T>G (p.Trp257Gly)
c.64T>G (p.Trp22Gly)
c.681T>G
n.908T>G
n.569T>G

Number of alleles fetched