Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57765008T>C | CA6658336 | CYP27B1 | c.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 |
12 | g.57765008T= | CA2038988537 | CYP27B1 | c.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= | |
12 | g.57765009A= | CA2038988540 | CYP27B1 | c.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= | |
12 | g.57765009A>C | CA385505108 | CYP27B1 | c.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 |
12 | g.57765009A>G | CA385505109 | CYP27B1 | c.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 | |
12 | g.57765009A>T | CA385505110 | CYP27B1 | c.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 | |
12 | g.57765010C>A | CA385505111 | CYP27B1 | c.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 | |
12 | g.57765010C>G | CA385505112 | CYP27B1 | c.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 | |
12 | g.57765010C>T | CA385505113 | CYP27B1 | c.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 | |
12 | g.57765011C>A | CA385505114 | CYP27B1 | n.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 | |
12 | g.57765011C>G | CA385505115 | CYP27B1 | n.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 | |
12 | g.57765011C>T | CA385505116 | CYP27B1 | n.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 | |
12 | g.57765012A>C | CA385505117 | CYP27B1 | n.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 | |
12 | g.57765012A>G | CA480402060 | CYP27B1 | n.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 | |
12 | g.57765012A>T | CA385505118 | CYP27B1 | n.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 | |
12 | g.57765013A= | CA2038988547 | CYP27B1 | n.700T= c.869T= (p.Phe290=) c.846T= (p.Ile282=) c.788T= (p.Phe263=) c.83T= (p.Phe28=) c.700T= n.927T= n.588T= | |
12 | g.57765013A>C | CA10633378 | CYP27B1 | n.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 |
12 | g.57765013A>G | CA385505120 | CYP27B1 | n.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 | |
12 | g.57765013A>T | CA385505119 | CYP27B1 | n.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 | |
12 | g.57765014A>C | CA385505121 | CYP27B1 | n.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 | |
12 | g.57765014A>G | CA385505122 | CYP27B1 | n.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 | |
12 | g.57765014A>T | CA385505123 | CYP27B1 | n.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 | |
12 | g.57765015T>A | CA480402061 | CYP27B1 | n.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 | |
12 | g.57765015T>C | CA480402062 | CYP27B1 | n.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 |
12 | g.57765015T>G | CA480402063 | CYP27B1 | n.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 | |
12 | g.57765016G>A | CA385505124 | CYP27B1 | n.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 | |
12 | g.57765016G>C | CA385505125 | CYP27B1 | n.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 | |
12 | g.57765016G>T | CA385505126 | CYP27B1 | n.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 | |
12 | g.57765017C>A | CA385505129 | CYP27B1 | n.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 |
12 | g.57765017C>G | CA385505127 | CYP27B1 | n.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 | |
12 | g.57765017C>T | CA385505128 | CYP27B1 | n.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 | |
12 | g.57765018A= | CA2038988552 | CYP27B1 | n.695T= c.864T= (p.Phe288=) c.841T= (p.Cys281=) c.783T= (p.Phe261=) c.78T= (p.Phe26=) c.695T= n.922T= n.583T= | |
12 | g.57765018A>C | CA385505130 | CYP27B1 | n.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 | |
12 | g.57765018A>G | CA480402064 | CYP27B1 | n.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 |
12 | g.57765018A>T | CA385505131 | CYP27B1 | n.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 | |
12 | g.57765019A>C | CA385505133 | CYP27B1 | n.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 |
12 | g.57765019A>G | CA385505134 | CYP27B1 | n.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 |
12 | g.57765019A>T | CA385505135 | CYP27B1 | n.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 | |
12 | g.57765020A>C | CA385505136 | CYP27B1 | n.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 |
12 | g.57765020A>G | CA385505138 | CYP27B1 | n.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 | |
12 | g.57765020A>T | CA385505137 | CYP27B1 | n.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 | |
12 | g.57765021C>A | CA385505139 | CYP27B1 | n.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 | |
12 | g.57765021C>G | CA385505140 | CYP27B1 | n.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 | |
12 | g.57765021C>T | CA385505141 | CYP27B1 | n.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 | |
12 | g.57765022A= | CA2038988556 | CYP27B1 | n.691T= c.860T= (p.Met287=) c.837T= (p.Asp279=) c.779T= (p.Met260=) c.74T= (p.Met25=) c.691T= n.918T= n.579T= | |
12 | g.57765022A>C | CA6658337 | CYP27B1 | n.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 |
12 | g.57765022A>G | CA385505142 | CYP27B1 | n.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 | |
12 | g.57765022A>T | CA385505143 | CYP27B1 | n.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 | |
12 | g.57765023T>A | CA385505144 | CYP27B1 | n.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 |
12 | g.57765023T>C | CA385505145 | CYP27B1 | n.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 |