Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57765008T>CCA6658336CYP27B1c.871+3A>G (n.871+3A>G)
c.848+3A>G (n.848+3A>G)
c.790+3A>G (n.790+3A>G)
c.85+3A>G (n.85+3A>G)
n.929+3A>G
n.590+3A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765008T=CA2038988537CYP27B1c.871+3A= (n.871+3A=)
c.848+3A= (n.848+3A=)
c.790+3A= (n.790+3A=)
c.85+3A= (n.85+3A=)
n.929+3A=
n.590+3A=
12g.57765009A=CA2038988540CYP27B1c.871+2T= (n.871+2T=)
c.848+2T= (n.848+2T=)
c.790+2T= (n.790+2T=)
c.85+2T= (n.85+2T=)
n.929+2T=
n.590+2T=
12g.57765009A>CCA385505108CYP27B1c.871+2T>G (n.871+2T>G)
c.848+2T>G (n.848+2T>G)
c.790+2T>G (n.790+2T>G)
c.85+2T>G (n.85+2T>G)
n.929+2T>G
n.590+2T>G
dbSNP
12g.57765009A>GCA385505109CYP27B1c.871+2T>C (n.871+2T>C)
c.848+2T>C (n.848+2T>C)
c.790+2T>C (n.790+2T>C)
c.85+2T>C (n.85+2T>C)
n.929+2T>C
n.590+2T>C
12g.57765009A>TCA385505110CYP27B1c.871+2T>A (n.871+2T>A)
c.848+2T>A (n.848+2T>A)
c.790+2T>A (n.790+2T>A)
c.85+2T>A (n.85+2T>A)
n.929+2T>A
n.590+2T>A
12g.57765010C>ACA385505111CYP27B1c.871+1G>T (n.871+1G>T)
c.848+1G>T (n.848+1G>T)
c.790+1G>T (n.790+1G>T)
c.85+1G>T (n.85+1G>T)
n.929+1G>T
n.590+1G>T
12g.57765010C>GCA385505112CYP27B1c.871+1G>C (n.871+1G>C)
c.848+1G>C (n.848+1G>C)
c.790+1G>C (n.790+1G>C)
c.85+1G>C (n.85+1G>C)
n.929+1G>C
n.590+1G>C
12g.57765010C>TCA385505113CYP27B1c.871+1G>A (n.871+1G>A)
c.848+1G>A (n.848+1G>A)
c.790+1G>A (n.790+1G>A)
c.85+1G>A (n.85+1G>A)
n.929+1G>A
n.590+1G>A
12g.57765011C>ACA385505114CYP27B1n.702G>T
c.871G>T (p.Ala291Ser)
c.848G>T (p.Cys283Phe)
c.790G>T (p.Ala264Ser)
c.85G>T (p.Ala29Ser)
c.702G>T
n.929G>T
n.590G>T
12g.57765011C>GCA385505115CYP27B1n.702G>C
c.871G>C (p.Ala291Pro)
c.848G>C (p.Cys283Ser)
c.790G>C (p.Ala264Pro)
c.85G>C (p.Ala29Pro)
c.702G>C
n.929G>C
n.590G>C
12g.57765011C>TCA385505116CYP27B1n.702G>A
c.871G>A (p.Ala291Thr)
c.848G>A (p.Cys283Tyr)
c.790G>A (p.Ala264Thr)
c.85G>A (p.Ala29Thr)
c.702G>A
n.929G>A
n.590G>A
12g.57765012A>CCA385505117CYP27B1n.701T>G
c.870T>G (p.Phe290Leu)
c.847T>G (p.Cys283Gly)
c.789T>G (p.Phe263Leu)
c.84T>G (p.Phe28Leu)
c.701T>G
n.928T>G
n.589T>G
12g.57765012A>GCA480402060CYP27B1n.701T>C
c.870T>C (p.Phe290=)
c.847T>C (p.Cys283Arg)
c.789T>C (p.Phe263=)
c.84T>C (p.Phe28=)
c.701T>C
n.928T>C
n.589T>C
12g.57765012A>TCA385505118CYP27B1n.701T>A
c.870T>A (p.Phe290Leu)
c.847T>A (p.Cys283Ser)
c.789T>A (p.Phe263Leu)
c.84T>A (p.Phe28Leu)
c.701T>A
n.928T>A
n.589T>A
12g.57765013A=CA2038988547CYP27B1n.700T=
c.869T= (p.Phe290=)
c.846T= (p.Ile282=)
c.788T= (p.Phe263=)
c.83T= (p.Phe28=)
c.700T=
n.927T=
n.588T=
12g.57765013A>CCA10633378CYP27B1n.700T>G
c.869T>G (p.Phe290Cys)
c.846T>G (p.Ile282Met)
c.788T>G (p.Phe263Cys)
c.83T>G (p.Phe28Cys)
c.700T>G
n.927T>G
n.588T>G
ClinVar dbSNP
12g.57765013A>GCA385505120CYP27B1n.700T>C
c.869T>C (p.Phe290Ser)
c.846T>C (p.Ile282=)
c.788T>C (p.Phe263Ser)
c.83T>C (p.Phe28Ser)
c.700T>C
n.927T>C
n.588T>C
12g.57765013A>TCA385505119CYP27B1n.700T>A
c.869T>A (p.Phe290Tyr)
c.846T>A (p.Ile282=)
c.788T>A (p.Phe263Tyr)
c.83T>A (p.Phe28Tyr)
c.700T>A
n.927T>A
n.588T>A
12g.57765014A>CCA385505121CYP27B1n.699T>G
c.868T>G (p.Phe290Val)
c.845T>G (p.Ile282Ser)
c.787T>G (p.Phe263Val)
c.82T>G (p.Phe28Val)
c.699T>G
n.926T>G
n.587T>G
12g.57765014A>GCA385505122CYP27B1n.699T>C
c.868T>C (p.Phe290Leu)
c.845T>C (p.Ile282Thr)
c.787T>C (p.Phe263Leu)
c.82T>C (p.Phe28Leu)
c.699T>C
n.926T>C
n.587T>C
12g.57765014A>TCA385505123CYP27B1n.699T>A
c.868T>A (p.Phe290Ile)
c.845T>A (p.Ile282Asn)
c.787T>A (p.Phe263Ile)
c.82T>A (p.Phe28Ile)
c.699T>A
n.926T>A
n.587T>A
12g.57765015T>ACA480402061CYP27B1n.698A>T
c.867A>T (p.Ala289=)
c.844A>T (p.Ile282Phe)
c.786A>T (p.Ala262=)
c.81A>T (p.Ala27=)
c.698A>T
n.925A>T
n.586A>T
12g.57765015T>CCA480402062CYP27B1n.698A>G
c.867A>G (p.Ala289=)
c.844A>G (p.Ile282Val)
c.786A>G (p.Ala262=)
c.81A>G (p.Ala27=)
c.698A>G
n.925A>G
n.586A>G
gnomAD v4
12g.57765015T>GCA480402063CYP27B1n.698A>C
c.867A>C (p.Ala289=)
c.844A>C (p.Ile282Leu)
c.786A>C (p.Ala262=)
c.81A>C (p.Ala27=)
c.698A>C
n.925A>C
n.586A>C
12g.57765016G>ACA385505124CYP27B1n.697C>T
c.866C>T (p.Ala289Val)
c.843C>T (p.Cys281=)
c.785C>T (p.Ala262Val)
c.80C>T (p.Ala27Val)
c.697C>T
n.924C>T
n.585C>T
12g.57765016G>CCA385505125CYP27B1n.697C>G
c.866C>G (p.Ala289Gly)
c.843C>G (p.Cys281Trp)
c.785C>G (p.Ala262Gly)
c.80C>G (p.Ala27Gly)
c.697C>G
n.924C>G
n.585C>G
12g.57765016G>TCA385505126CYP27B1n.697C>A
c.866C>A (p.Ala289Glu)
c.843C>A (p.Cys281Ter)
c.785C>A (p.Ala262Glu)
c.80C>A (p.Ala27Glu)
c.697C>A
n.924C>A
n.585C>A
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
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
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

Number of alleles fetched