Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57764971G>ACA605706811CYP27B1c.871+40C>T (n.871+40C>T)
c.848+40C>T (n.848+40C>T)
c.790+40C>T (n.790+40C>T)
c.85+40C>T (n.85+40C>T)
n.929+40C>T
n.590+40C>T
 dbSNP gnomAD v2 gnomAD v4
12g.57764971G=CA2038988483CYP27B1c.871+40C= (n.871+40C=)
c.848+40C= (n.848+40C=)
c.790+40C= (n.790+40C=)
c.85+40C= (n.85+40C=)
n.929+40C=
n.590+40C=
12g.57764971G>TCA6658331CYP27B1c.871+40C>A (n.871+40C>A)
c.848+40C>A (n.848+40C>A)
c.790+40C>A (n.790+40C>A)
c.85+40C>A (n.85+40C>A)
n.929+40C>A
n.590+40C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57764972C>GCA2575206591CYP27B1c.871+39G>C (n.871+39G>C)
c.848+39G>C (n.848+39G>C)
c.790+39G>C (n.790+39G>C)
c.85+39G>C (n.85+39G>C)
n.929+39G>C
n.590+39G>C
12g.57764974T>GCA6658332CYP27B1c.871+37A>C (n.871+37A>C)
c.848+37A>C (n.848+37A>C)
c.790+37A>C (n.790+37A>C)
c.85+37A>C (n.85+37A>C)
n.929+37A>C
n.590+37A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764974T=CA2038988487CYP27B1c.871+37A= (n.871+37A=)
c.848+37A= (n.848+37A=)
c.790+37A= (n.790+37A=)
c.85+37A= (n.85+37A=)
n.929+37A=
n.590+37A=
12g.57764977C>TCA2619516594CYP27B1c.871+34G>A (n.871+34G>A)
c.848+34G>A (n.848+34G>A)
c.790+34G>A (n.790+34G>A)
c.85+34G>A (n.85+34G>A)
n.929+34G>A
n.590+34G>A
 gnomAD v4
12g.57764978A=CA2038988490CYP27B1c.871+33T= (n.871+33T=)
c.848+33T= (n.848+33T=)
c.790+33T= (n.790+33T=)
c.85+33T= (n.85+33T=)
n.929+33T=
n.590+33T=
12g.57764978A>GCA6658333CYP27B1c.871+33T>C (n.871+33T>C)
c.848+33T>C (n.848+33T>C)
c.790+33T>C (n.790+33T>C)
c.85+33T>C (n.85+33T>C)
n.929+33T>C
n.590+33T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57764979T>ACA2619516599CYP27B1c.871+32A>T (n.871+32A>T)
c.848+32A>T (n.848+32A>T)
c.790+32A>T (n.790+32A>T)
c.85+32A>T (n.85+32A>T)
n.929+32A>T
n.590+32A>T
 gnomAD v4
12g.57764979T>CCA2619516600CYP27B1c.871+32A>G (n.871+32A>G)
c.848+32A>G (n.848+32A>G)
c.790+32A>G (n.790+32A>G)
c.85+32A>G (n.85+32A>G)
n.929+32A>G
n.590+32A>G
 gnomAD v4
12g.57764981C=CA2038988493CYP27B1c.871+30G= (n.871+30G=)
c.848+30G= (n.848+30G=)
c.790+30G= (n.790+30G=)
c.85+30G= (n.85+30G=)
n.929+30G=
n.590+30G=
12g.57764981C>TCA605706829CYP27B1c.871+30G>A (n.871+30G>A)
c.848+30G>A (n.848+30G>A)
c.790+30G>A (n.790+30G>A)
c.85+30G>A (n.85+30G>A)
n.929+30G>A
n.590+30G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57764982C>ACA2528286368CYP27B1c.871+29G>T (n.871+29G>T)
c.848+29G>T (n.848+29G>T)
c.790+29G>T (n.790+29G>T)
c.85+29G>T (n.85+29G>T)
n.929+29G>T
n.590+29G>T
12g.57764982C>TCA2619516604CYP27B1c.871+29G>A (n.871+29G>A)
c.848+29G>A (n.848+29G>A)
c.790+29G>A (n.790+29G>A)
c.85+29G>A (n.85+29G>A)
n.929+29G>A
n.590+29G>A
 gnomAD v4
12g.57764983C>ACA2543317335CYP27B1c.871+28G>T (n.871+28G>T)
c.848+28G>T (n.848+28G>T)
c.790+28G>T (n.790+28G>T)
c.85+28G>T (n.85+28G>T)
n.929+28G>T
n.590+28G>T
12g.57764983C=CA2038988497CYP27B1c.871+28G= (n.871+28G=)
c.848+28G= (n.848+28G=)
c.790+28G= (n.790+28G=)
c.85+28G= (n.85+28G=)
n.929+28G=
n.590+28G=
12g.57764983C>GCA690330641CYP27B1c.871+28G>C (n.871+28G>C)
c.848+28G>C (n.848+28G>C)
c.790+28G>C (n.790+28G>C)
c.85+28G>C (n.85+28G>C)
n.929+28G>C
n.590+28G>C
 dbSNP
12g.57764983C>TCA690330648CYP27B1c.871+28G>A (n.871+28G>A)
c.848+28G>A (n.848+28G>A)
c.790+28G>A (n.790+28G>A)
c.85+28G>A (n.85+28G>A)
n.929+28G>A
n.590+28G>A
 dbSNP
12g.57764984C=CA2038988502CYP27B1c.871+27G= (n.871+27G=)
c.848+27G= (n.848+27G=)
c.790+27G= (n.790+27G=)
c.85+27G= (n.85+27G=)
n.929+27G=
n.590+27G=
12g.57764984C>GCA2575206592CYP27B1c.871+27G>C (n.871+27G>C)
c.848+27G>C (n.848+27G>C)
c.790+27G>C (n.790+27G>C)
c.85+27G>C (n.85+27G>C)
n.929+27G>C
n.590+27G>C
12g.57764984C>TCA237814712CYP27B1c.871+27G>A (n.871+27G>A)
c.848+27G>A (n.848+27G>A)
c.790+27G>A (n.790+27G>A)
c.85+27G>A (n.85+27G>A)
n.929+27G>A
n.590+27G>A
 dbSNP
12g.57764985C=CA2038988508CYP27B1c.871+26G= (n.871+26G=)
c.848+26G= (n.848+26G=)
c.790+26G= (n.790+26G=)
c.85+26G= (n.85+26G=)
n.929+26G=
n.590+26G=
12g.57764985C>GCA2619516608CYP27B1c.871+26G>C (n.871+26G>C)
c.848+26G>C (n.848+26G>C)
c.790+26G>C (n.790+26G>C)
c.85+26G>C (n.85+26G>C)
n.929+26G>C
n.590+26G>C
 gnomAD v4
12g.57764985C>TCA605706830CYP27B1c.871+26G>A (n.871+26G>A)
c.848+26G>A (n.848+26G>A)
c.790+26G>A (n.790+26G>A)
c.85+26G>A (n.85+26G>A)
n.929+26G>A
n.590+26G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57764985_57764986insCAAACACACCCAACACCA2796149711CYP27B1c.871+26_871+27insTGTTGGGTGTGTTTGG (n.871+26_871+27insTGTTGGGTGTGTTTGG)
c.848+26_848+27insTGTTGGGTGTGTTTGG (n.848+26_848+27insTGTTGGGTGTGTTTGG)
c.790+26_790+27insTGTTGGGTGTGTTTGG (n.790+26_790+27insTGTTGGGTGTGTTTGG)
c.85+26_85+27insTGTTGGGTGTGTTTGG (n.85+26_85+27insTGTTGGGTGTGTTTGG)
n.929+26_929+27insTGTTGGGTGTGTTTGG
n.590+26_590+27insTGTTGGGTGTGTTTGG
12g.57764987T>CCA2619516613CYP27B1c.871+24A>G (n.871+24A>G)
c.848+24A>G (n.848+24A>G)
c.790+24A>G (n.790+24A>G)
c.85+24A>G (n.85+24A>G)
n.929+24A>G
n.590+24A>G
 gnomAD v4
12g.57764988T>GCA237814715CYP27B1c.871+23A>C (n.871+23A>C)
c.848+23A>C (n.848+23A>C)
c.790+23A>C (n.790+23A>C)
c.85+23A>C (n.85+23A>C)
n.929+23A>C
n.590+23A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57764988T=CA2038988511CYP27B1c.871+23A= (n.871+23A=)
c.848+23A= (n.848+23A=)
c.790+23A= (n.790+23A=)
c.85+23A= (n.85+23A=)
n.929+23A=
n.590+23A=
12g.57764990C=CA2038988514CYP27B1c.871+21G= (n.871+21G=)
c.848+21G= (n.848+21G=)
c.790+21G= (n.790+21G=)
c.85+21G= (n.85+21G=)
n.929+21G=
n.590+21G=
12g.57764990C>TCA605706831CYP27B1c.871+21G>A (n.871+21G>A)
c.848+21G>A (n.848+21G>A)
c.790+21G>A (n.790+21G>A)
c.85+21G>A (n.85+21G>A)
n.929+21G>A
n.590+21G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57764991C>GCA655256817CYP27B1c.871+20G>C (n.871+20G>C)
c.848+20G>C (n.848+20G>C)
c.790+20G>C (n.790+20G>C)
c.85+20G>C (n.85+20G>C)
n.929+20G>C
n.590+20G>C
 COSMIC COSMIC
12g.57764992A=CA2038988517CYP27B1c.871+19T= (n.871+19T=)
c.848+19T= (n.848+19T=)
c.790+19T= (n.790+19T=)
c.85+19T= (n.85+19T=)
n.929+19T=
n.590+19T=
12g.57764992A>CCA2038988518CYP27B1c.871+19T>G (n.871+19T>G)
c.848+19T>G (n.848+19T>G)
c.790+19T>G (n.790+19T>G)
c.85+19T>G (n.85+19T>G)
n.929+19T>G
n.590+19T>G
 dbSNP
12g.57764994C>GCA2619516622CYP27B1c.871+17G>C (n.871+17G>C)
c.848+17G>C (n.848+17G>C)
c.790+17G>C (n.790+17G>C)
c.85+17G>C (n.85+17G>C)
n.929+17G>C
n.590+17G>C
 gnomAD v4
12g.57764995T>CCA2741258231CYP27B1c.871+16A>G (n.871+16A>G)
c.848+16A>G (n.848+16A>G)
c.790+16A>G (n.790+16A>G)
c.85+16A>G (n.85+16A>G)
n.929+16A>G
n.590+16A>G
12g.57764996C=CA2038988519CYP27B1c.871+15G= (n.871+15G=)
c.848+15G= (n.848+15G=)
c.790+15G= (n.790+15G=)
c.85+15G= (n.85+15G=)
n.929+15G=
n.590+15G=
12g.57764996C>GCA2038988522CYP27B1c.871+15G>C (n.871+15G>C)
c.848+15G>C (n.848+15G>C)
c.790+15G>C (n.790+15G>C)
c.85+15G>C (n.85+15G>C)
n.929+15G>C
n.590+15G>C
 dbSNP gnomAD v4
12g.57764996C>TCA6658334CYP27B1c.871+15G>A (n.871+15G>A)
c.848+15G>A (n.848+15G>A)
c.790+15G>A (n.790+15G>A)
c.85+15G>A (n.85+15G>A)
n.929+15G>A
n.590+15G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57764997G>ACA2575206593CYP27B1c.871+14C>T (n.871+14C>T)
c.848+14C>T (n.848+14C>T)
c.790+14C>T (n.790+14C>T)
c.85+14C>T (n.85+14C>T)
n.929+14C>T
n.590+14C>T
12g.57764997G>CCA2619516627CYP27B1c.871+14C>G (n.871+14C>G)
c.848+14C>G (n.848+14C>G)
c.790+14C>G (n.790+14C>G)
c.85+14C>G (n.85+14C>G)
n.929+14C>G
n.590+14C>G
 gnomAD v4
12g.57764997G>TCA2619516629CYP27B1c.871+14C>A (n.871+14C>A)
c.848+14C>A (n.848+14C>A)
c.790+14C>A (n.790+14C>A)
c.85+14C>A (n.85+14C>A)
n.929+14C>A
n.590+14C>A
 gnomAD v4
12g.57764998A=CA2038988523CYP27B1c.871+13T= (n.871+13T=)
c.848+13T= (n.848+13T=)
c.790+13T= (n.790+13T=)
c.85+13T= (n.85+13T=)
n.929+13T=
n.590+13T=
12g.57764998A>CCA605706832CYP27B1c.871+13T>G (n.871+13T>G)
c.848+13T>G (n.848+13T>G)
c.790+13T>G (n.790+13T>G)
c.85+13T>G (n.85+13T>G)
n.929+13T>G
n.590+13T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.57764998A>GCA2619516631CYP27B1c.871+13T>C (n.871+13T>C)
c.848+13T>C (n.848+13T>C)
c.790+13T>C (n.790+13T>C)
c.85+13T>C (n.85+13T>C)
n.929+13T>C
n.590+13T>C
 gnomAD v4
12g.57764998A>TCA2739272101CYP27B1c.871+13T>A (n.871+13T>A)
c.848+13T>A (n.848+13T>A)
c.790+13T>A (n.790+13T>A)
c.85+13T>A (n.85+13T>A)
n.929+13T>A
n.590+13T>A
 ClinVar
12g.57764999C=CA2038988525CYP27B1c.871+12G= (n.871+12G=)
c.848+12G= (n.848+12G=)
c.790+12G= (n.790+12G=)
c.85+12G= (n.85+12G=)
n.929+12G=
n.590+12G=
12g.57764999C>GCA948106221CYP27B1c.871+12G>C (n.871+12G>C)
c.848+12G>C (n.848+12G>C)
c.790+12G>C (n.790+12G>C)
c.85+12G>C (n.85+12G>C)
n.929+12G>C
n.590+12G>C
 dbSNP gnomAD v3 gnomAD v4
12g.57765000dupCA2619516635CYP27B1c.871+12dup (n.871+12dup)
c.848+12dup (n.848+12dup)
c.790+12dup (n.790+12dup)
c.85+12dup (n.85+12dup)
n.929+12dup
n.590+12dup
 gnomAD v4
12g.57765000C>ACA2741258232CYP27B1c.871+11G>T (n.871+11G>T)
c.848+11G>T (n.848+11G>T)
c.790+11G>T (n.790+11G>T)
c.85+11G>T (n.85+11G>T)
n.929+11G>T
n.590+11G>T
12g.57765001T>CCA2619516637CYP27B1c.871+10A>G (n.871+10A>G)
c.848+10A>G (n.848+10A>G)
c.790+10A>G (n.790+10A>G)
c.85+10A>G (n.85+10A>G)
n.929+10A>G
n.590+10A>G
 gnomAD v4
12g.57765003T>CCA237814718CYP27B1c.871+8A>G (n.871+8A>G)
c.848+8A>G (n.848+8A>G)
c.790+8A>G (n.790+8A>G)
c.85+8A>G (n.85+8A>G)
n.929+8A>G
n.590+8A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765003T>GCA2619516645CYP27B1c.871+8A>C (n.871+8A>C)
c.848+8A>C (n.848+8A>C)
c.790+8A>C (n.790+8A>C)
c.85+8A>C (n.85+8A>C)
n.929+8A>C
n.590+8A>C
 ClinVar gnomAD v4
12g.57765003T=CA2038988527CYP27B1c.871+8A= (n.871+8A=)
c.848+8A= (n.848+8A=)
c.790+8A= (n.790+8A=)
c.85+8A= (n.85+8A=)
n.929+8A=
n.590+8A=
12g.57765004G>CCA237814719CYP27B1c.871+7C>G (n.871+7C>G)
c.848+7C>G (n.848+7C>G)
c.790+7C>G (n.790+7C>G)
c.85+7C>G (n.85+7C>G)
n.929+7C>G
n.590+7C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765004G=CA2038988533CYP27B1c.871+7C= (n.871+7C=)
c.848+7C= (n.848+7C=)
c.790+7C= (n.790+7C=)
c.85+7C= (n.85+7C=)
n.929+7C=
n.590+7C=
12g.57765005C=CA2038988536CYP27B1c.871+6G= (n.871+6G=)
c.848+6G= (n.848+6G=)
c.790+6G= (n.790+6G=)
c.85+6G= (n.85+6G=)
n.929+6G=
n.590+6G=
12g.57765005C>GCA2619516647CYP27B1c.871+6G>C (n.871+6G>C)
c.848+6G>C (n.848+6G>C)
c.790+6G>C (n.790+6G>C)
c.85+6G>C (n.85+6G>C)
n.929+6G>C
n.590+6G>C
 gnomAD v4
12g.57765005C>TCA6658335CYP27B1c.871+6G>A (n.871+6G>A)
c.848+6G>A (n.848+6G>A)
c.790+6G>A (n.790+6G>A)
c.85+6G>A (n.85+6G>A)
n.929+6G>A
n.590+6G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
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
 ClinVar 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
 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
12g.57765032A>GCA385505170CYP27B1n.681T>C
c.850T>C (p.Trp284Arg)
c.827T>C (p.Leu276Pro)
c.769T>C (p.Trp257Arg)
c.64T>C (p.Trp22Arg)
c.681T>C
n.908T>C
n.569T>C
12g.57765032A>TCA385505171CYP27B1n.681T>A
c.850T>A (p.Trp284Arg)
c.827T>A (p.Leu276Gln)
c.769T>A (p.Trp257Arg)
c.64T>A (p.Trp22Arg)
c.681T>A
n.908T>A
n.569T>A
12g.57765032dupCA2739272102CYP27B1n.681dup
c.850dup (p.Trp284LeufsTer?)
c.827dup (p.Pro278ThrfsTer20)
c.769dup (p.Trp257LeufsTer?)
c.64dup (p.Trp22LeufsTer?)
c.681dup
n.908dup
n.569dup
 ClinVar
12g.57765033G>ACA480402067CYP27B1n.680C>T
c.849C>T (p.Asp283=)
c.826C>T (p.Leu276=)
c.768C>T (p.Asp256=)
c.63C>T (p.Asp21=)
c.680C>T
n.907C>T
n.568C>T
12g.57765033G>CCA385505172CYP27B1n.680C>G
c.849C>G (p.Asp283Glu)
c.826C>G (p.Leu276Val)
c.768C>G (p.Asp256Glu)
c.63C>G (p.Asp21Glu)
c.680C>G
n.907C>G
n.568C>G
12g.57765033G=CA2038988561CYP27B1n.680C=
c.849C= (p.Asp283=)
c.826C= (p.Leu276=)
c.768C= (p.Asp256=)
c.63C= (p.Asp21=)
c.680C=
n.907C=
n.568C=
12g.57765033G>TCA237814730CYP27B1n.680C>A
c.849C>A (p.Asp283Glu)
c.826C>A (p.Leu276Met)
c.768C>A (p.Asp256Glu)
c.63C>A (p.Asp21Glu)
c.680C>A
n.907C>A
n.568C>A
 dbSNP
12g.57765034T>ACA385505173CYP27B1n.679A>T
c.848A>T (p.Asp283Val)
c.825A>T (p.Arg275Ser)
c.767A>T (p.Asp256Val)
c.62A>T (p.Asp21Val)
c.679A>T
n.906A>T
n.567A>T
 gnomAD v4
12g.57765034T>CCA385505174CYP27B1n.679A>G
c.848A>G (p.Asp283Gly)
c.825A>G (p.Arg275=)
c.767A>G (p.Asp256Gly)
c.62A>G (p.Asp21Gly)
c.679A>G
n.906A>G
n.567A>G
 gnomAD v4
12g.57765034T>GCA385505175CYP27B1n.679A>C
c.848A>C (p.Asp283Ala)
c.825A>C (p.Arg275Ser)
c.767A>C (p.Asp256Ala)
c.62A>C (p.Asp21Ala)
c.679A>C
n.906A>C
n.567A>C
12g.57765035C>ACA385505176CYP27B1n.678G>T
c.847G>T (p.Asp283Tyr)
c.824G>T (p.Arg275Ile)
c.766G>T (p.Asp256Tyr)
c.61G>T (p.Asp21Tyr)
c.678G>T
n.905G>T
n.566G>T
12g.57765035C=CA2038988565CYP27B1n.678G=
c.847G= (p.Asp283=)
c.824G= (p.Arg275=)
c.766G= (p.Asp256=)
c.61G= (p.Asp21=)
c.678G=
n.905G=
n.566G=
12g.57765035C>GCA385505177CYP27B1n.678G>C
c.847G>C (p.Asp283His)
c.824G>C (p.Arg275Thr)
c.766G>C (p.Asp256His)
c.61G>C (p.Asp21His)
c.678G>C
n.905G>C
n.566G>C
12g.57765035C>TCA237814744CYP27B1n.678G>A
c.847G>A (p.Asp283Asn)
c.824G>A (p.Arg275Lys)
c.766G>A (p.Asp256Asn)
c.61G>A (p.Asp21Asn)
c.678G>A
n.905G>A
n.566G>A
 dbSNP gnomAD v4
12g.57765036T>ACA480402068CYP27B1n.677A>T
c.846A>T (p.Arg282=)
c.823A>T (p.Arg275Ter)
c.765A>T (p.Arg255=)
c.60A>T (p.Arg20=)
c.677A>T
n.904A>T
n.565A>T
12g.57765036T>CCA480402069CYP27B1n.677A>G
c.846A>G (p.Arg282=)
c.823A>G (p.Arg275Gly)
c.765A>G (p.Arg255=)
c.60A>G (p.Arg20=)
c.677A>G
n.904A>G
n.565A>G
12g.57765036T>GCA480402070CYP27B1n.677A>C
c.846A>C (p.Arg282=)
c.823A>C (p.Arg275=)
c.765A>C (p.Arg255=)
c.60A>C (p.Arg20=)
c.677A>C
n.904A>C
n.565A>C
12g.57765037C>ACA385505179CYP27B1n.676G>T
c.845G>T (p.Arg282Leu)
c.822G>T (p.Pro274=)
c.764G>T (p.Arg255Leu)
c.59G>T (p.Arg20Leu)
c.676G>T
n.903G>T
n.564G>T
12g.57765037C=CA2038988569CYP27B1n.676G=
c.845G= (p.Arg282=)
c.822G= (p.Pro274=)
c.764G= (p.Arg255=)
c.59G= (p.Arg20=)
c.676G=
n.903G=
n.564G=
12g.57765037C>GCA385505178CYP27B1n.676G>C
c.845G>C (p.Arg282Pro)
c.822G>C (p.Pro274=)
c.764G>C (p.Arg255Pro)
c.59G>C (p.Arg20Pro)
c.676G>C
n.903G>C
n.564G>C
12g.57765037C>TCA6658338CYP27B1n.676G>A
c.845G>A (p.Arg282Gln)
c.822G>A (p.Pro274=)
c.764G>A (p.Arg255Gln)
c.59G>A (p.Arg20Gln)
c.676G>A
n.903G>A
n.564G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765038G>ACA385505180CYP27B1n.675C>T
c.844C>T (p.Arg282Ter)
c.821C>T (p.Pro274Leu)
c.763C>T (p.Arg255Ter)
c.58C>T (p.Arg20Ter)
c.675C>T
n.902C>T
n.563C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765038G>CCA6658339CYP27B1n.675C>G
c.844C>G (p.Arg282Gly)
c.821C>G (p.Pro274Arg)
c.763C>G (p.Arg255Gly)
c.58C>G (p.Arg20Gly)
c.675C>G
n.902C>G
n.563C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765038G=CA2038988573CYP27B1n.675C=
c.844C= (p.Arg282=)
c.821C= (p.Pro274=)
c.763C= (p.Arg255=)
c.58C= (p.Arg20=)
c.675C=
n.902C=
n.563C=
12g.57765038G>TCA480402071CYP27B1n.675C>A
c.844C>A (p.Arg282=)
c.821C>A (p.Pro274Gln)
c.763C>A (p.Arg255=)
c.58C>A (p.Arg20=)
c.675C>A
n.902C>A
n.563C>A
12g.57765039G>ACA480402072CYP27B1n.674C>T
c.843C>T (p.Cys281=)
c.820C>T (p.Pro274Ser)
c.762C>T (p.Cys254=)
c.57C>T (p.Cys19=)
c.674C>T
n.901C>T
n.562C>T
12g.57765039G>CCA385505181CYP27B1n.674C>G
c.843C>G (p.Cys281Trp)
c.820C>G (p.Pro274Ala)
c.762C>G (p.Cys254Trp)
c.57C>G (p.Cys19Trp)
c.674C>G
n.901C>G
n.562C>G
12g.57765039G>TCA385505182CYP27B1n.674C>A
c.843C>A (p.Cys281Ter)
c.820C>A (p.Pro274Thr)
c.762C>A (p.Cys254Ter)
c.57C>A (p.Cys19Ter)
c.674C>A
n.901C>A
n.562C>A
12g.57765040C>ACA385505183CYP27B1n.673G>T
c.842G>T (p.Cys281Phe)
c.819G>T (p.Leu273=)
c.761G>T (p.Cys254Phe)
c.56G>T (p.Cys19Phe)
c.673G>T
n.900G>T
n.561G>T
12g.57765040C>GCA385505184CYP27B1n.673G>C
c.842G>C (p.Cys281Ser)
c.819G>C (p.Leu273=)
c.761G>C (p.Cys254Ser)
c.56G>C (p.Cys19Ser)
c.673G>C
n.900G>C
n.561G>C
12g.57765040C>TCA385505185CYP27B1n.673G>A
c.842G>A (p.Cys281Tyr)
c.819G>A (p.Leu273=)
c.761G>A (p.Cys254Tyr)
c.56G>A (p.Cys19Tyr)
c.673G>A
n.900G>A
n.561G>A
12g.57765041A=CA2038988577CYP27B1n.672T=
c.841T= (p.Cys281=)
c.818T= (p.Leu273=)
c.760T= (p.Cys254=)
c.55T= (p.Cys19=)
c.672T=
n.899T=
n.560T=
12g.57765041A>CCA385505186CYP27B1n.672T>G
c.841T>G (p.Cys281Gly)
c.818T>G (p.Leu273Arg)
c.760T>G (p.Cys254Gly)
c.55T>G (p.Cys19Gly)
c.672T>G
n.899T>G
n.560T>G
12g.57765041A>GCA6658340CYP27B1n.672T>C
c.841T>C (p.Cys281Arg)
c.818T>C (p.Leu273Pro)
c.760T>C (p.Cys254Arg)
c.55T>C (p.Cys19Arg)
c.672T>C
n.899T>C
n.560T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765041A>TCA385505187CYP27B1n.672T>A
c.841T>A (p.Cys281Ser)
c.818T>A (p.Leu273Gln)
c.760T>A (p.Cys254Ser)
c.55T>A (p.Cys19Ser)
c.672T>A
n.899T>A
n.560T>A
12g.57765042G>ACA480402075CYP27B1n.671C>T
c.840C>T (p.Leu280=)
c.817C>T (p.Leu273=)
c.759C>T (p.Leu253=)
c.54C>T (p.Leu18=)
c.671C>T
n.898C>T
n.559C>T
12g.57765042G>CCA480402073CYP27B1n.671C>G
c.840C>G (p.Leu280=)
c.817C>G (p.Leu273Val)
c.759C>G (p.Leu253=)
c.54C>G (p.Leu18=)
c.671C>G
n.898C>G
n.559C>G
12g.57765042G>TCA480402074CYP27B1n.671C>A
c.840C>A (p.Leu280=)
c.817C>A (p.Leu273Met)
c.759C>A (p.Leu253=)
c.54C>A (p.Leu18=)
c.671C>A
n.898C>A
n.559C>A
12g.57765043A>CCA385505189CYP27B1n.670T>G
c.839T>G (p.Leu280Arg)
c.816T>G (p.Pro272=)
c.758T>G (p.Leu253Arg)
c.53T>G (p.Leu18Arg)
c.670T>G
n.897T>G
n.558T>G
12g.57765043A>GCA385505190CYP27B1n.670T>C
c.839T>C (p.Leu280Pro)
c.816T>C (p.Pro272=)
c.758T>C (p.Leu253Pro)
c.53T>C (p.Leu18Pro)
c.670T>C
n.897T>C
n.558T>C
12g.57765043A>TCA385505188CYP27B1n.670T>A
c.839T>A (p.Leu280His)
c.816T>A (p.Pro272=)
c.758T>A (p.Leu253His)
c.53T>A (p.Leu18His)
c.670T>A
n.897T>A
n.558T>A
12g.57765044G>ACA385505191CYP27B1n.669C>T
c.838C>T (p.Leu280Phe)
c.815C>T (p.Pro272Leu)
c.757C>T (p.Leu253Phe)
c.52C>T (p.Leu18Phe)
c.669C>T
n.896C>T
n.557C>T
12g.57765044G>CCA385505192CYP27B1n.669C>G
c.838C>G (p.Leu280Val)
c.815C>G (p.Pro272Arg)
c.757C>G (p.Leu253Val)
c.52C>G (p.Leu18Val)
c.669C>G
n.896C>G
n.557C>G
12g.57765044G>TCA385505193CYP27B1n.669C>A
c.838C>A (p.Leu280Ile)
c.815C>A (p.Pro272His)
c.757C>A (p.Leu253Ile)
c.52C>A (p.Leu18Ile)
c.669C>A
n.896C>A
n.557C>A
 COSMIC
12g.57765045G>ACA480402076CYP27B1n.668C>T
c.837C>T (p.Arg279=)
c.814C>T (p.Pro272Ser)
c.756C>T (p.Arg252=)
c.51C>T (p.Arg17=)
c.668C>T
n.895C>T
n.556C>T
12g.57765045G>CCA480402077CYP27B1n.668C>G
c.837C>G (p.Arg279=)
c.814C>G (p.Pro272Ala)
c.756C>G (p.Arg252=)
c.51C>G (p.Arg17=)
c.668C>G
n.895C>G
n.556C>G
12g.57765045G=CA2038988579CYP27B1n.668C=
c.837C= (p.Arg279=)
c.814C= (p.Pro272=)
c.756C= (p.Arg252=)
c.51C= (p.Arg17=)
c.668C=
n.895C=
n.556C=
12g.57765045G>TCA480402078CYP27B1n.668C>A
c.837C>A (p.Arg279=)
c.814C>A (p.Pro272Thr)
c.756C>A (p.Arg252=)
c.51C>A (p.Arg17=)
c.668C>A
n.895C>A
n.556C>A
 dbSNP gnomAD v3 gnomAD v4
12g.57765046C>ACA385505194CYP27B1n.667G>T
c.836G>T (p.Arg279Leu)
c.813G>T (p.Pro271=)
c.755G>T (p.Arg252Leu)
c.50G>T (p.Arg17Leu)
c.667G>T
n.894G>T
n.555G>T
 dbSNP gnomAD v3 gnomAD v4
12g.57765046C=CA2038988580CYP27B1n.667G=
c.836G= (p.Arg279=)
c.813G= (p.Pro271=)
c.755G= (p.Arg252=)
c.50G= (p.Arg17=)
c.667G=
n.894G=
n.555G=
12g.57765046C>GCA385505195CYP27B1n.667G>C
c.836G>C (p.Arg279Pro)
c.813G>C (p.Pro271=)
c.755G>C (p.Arg252Pro)
c.50G>C (p.Arg17Pro)
c.667G>C
n.894G>C
n.555G>C
12g.57765046C>TCA385505196CYP27B1n.667G>A
c.836G>A (p.Arg279His)
c.813G>A (p.Pro271=)
c.755G>A (p.Arg252His)
c.50G>A (p.Arg17His)
c.667G>A
n.894G>A
n.555G>A
 dbSNP gnomAD v4
12g.57765047G>ACA237814761CYP27B1n.666C>T
c.835C>T (p.Arg279Cys)
c.812C>T (p.Pro271Leu)
c.754C>T (p.Arg252Cys)
c.49C>T (p.Arg17Cys)
c.666C>T
n.893C>T
n.554C>T
 dbSNP COSMIC
12g.57765047G>CCA385505198CYP27B1n.666C>G
c.835C>G (p.Arg279Gly)
c.812C>G (p.Pro271Arg)
c.754C>G (p.Arg252Gly)
c.49C>G (p.Arg17Gly)
c.666C>G
n.893C>G
n.554C>G
 gnomAD v4
12g.57765047G=CA2038988583CYP27B1n.666C=
c.835C= (p.Arg279=)
c.812C= (p.Pro271=)
c.754C= (p.Arg252=)
c.49C= (p.Arg17=)
c.666C=
n.893C=
n.554C=
12g.57765047G>TCA385505197CYP27B1n.666C>A
c.835C>A (p.Arg279Ser)
c.812C>A (p.Pro271Gln)
c.754C>A (p.Arg252Ser)
c.49C>A (p.Arg17Ser)
c.666C>A
n.893C>A
n.554C>A
 COSMIC
12g.57765048G>ACA480402079CYP27B1n.665C>T
c.834C>T (p.Gly278=)
c.811C>T (p.Pro271Ser)
c.753C>T (p.Gly251=)
c.48C>T (p.Gly16=)
c.665C>T
n.892C>T
n.553C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.57765048G>CCA6658341CYP27B1n.665C>G
c.834C>G (p.Gly278=)
c.811C>G (p.Pro271Ala)
c.753C>G (p.Gly251=)
c.48C>G (p.Gly16=)
c.665C>G
n.892C>G
n.553C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765048G=CA2038988586CYP27B1n.665C=
c.834C= (p.Gly278=)
c.811C= (p.Pro271=)
c.753C= (p.Gly251=)
c.48C= (p.Gly16=)
c.665C=
n.892C=
n.553C=
12g.57765048G>TCA480402080CYP27B1n.665C>A
c.834C>A (p.Gly278=)
c.811C>A (p.Pro271Thr)
c.753C>A (p.Gly251=)
c.48C>A (p.Gly16=)
c.665C>A
n.892C>A
n.553C>A
12g.57765049C>ACA385505199CYP27B1n.664G>T
c.833G>T (p.Gly278Val)
c.810G>T (p.Gly270=)
c.752G>T (p.Gly251Val)
c.47G>T (p.Gly16Val)
c.664G>T
n.891G>T
n.552G>T
12g.57765049C>GCA385505200CYP27B1n.664G>C
c.833G>C (p.Gly278Ala)
c.810G>C (p.Gly270=)
c.752G>C (p.Gly251Ala)
c.47G>C (p.Gly16Ala)
c.664G>C
n.891G>C
n.552G>C
12g.57765049C>TCA385505201CYP27B1n.664G>A
c.833G>A (p.Gly278Asp)
c.810G>A (p.Gly270=)
c.752G>A (p.Gly251Asp)
c.47G>A (p.Gly16Asp)
c.664G>A
n.891G>A
n.552G>A
 gnomAD v4
12g.57765050C>ACA385505204CYP27B1n.663G>T
c.832G>T (p.Gly278Cys)
c.809G>T (p.Gly270Val)
c.751G>T (p.Gly251Cys)
c.46G>T (p.Gly16Cys)
c.663G>T
n.890G>T
n.551G>T
12g.57765050C>GCA385505203CYP27B1n.663G>C
c.832G>C (p.Gly278Arg)
c.809G>C (p.Gly270Ala)
c.751G>C (p.Gly251Arg)
c.46G>C (p.Gly16Arg)
c.663G>C
n.890G>C
n.551G>C
12g.57765050C>TCA385505202CYP27B1n.663G>A
c.832G>A (p.Gly278Ser)
c.809G>A (p.Gly270Glu)
c.751G>A (p.Gly251Ser)
c.46G>A (p.Gly16Ser)
c.663G>A
n.890G>A
n.551G>A
12g.57765051C>ACA385505205CYP27B1n.662G>T
c.831G>T (p.Trp277Cys)
c.808G>T (p.Gly270Trp)
c.750G>T (p.Trp250Cys)
c.45G>T (p.Trp15Cys)
c.662G>T
n.889G>T
n.550G>T
12g.57765051C=CA2038988595CYP27B1n.662G=
c.831G= (p.Trp277=)
c.808G= (p.Gly270=)
c.750G= (p.Trp250=)
c.45G= (p.Trp15=)
c.662G=
n.889G=
n.550G=
12g.57765051C>GCA385505206CYP27B1n.662G>C
c.831G>C (p.Trp277Cys)
c.808G>C (p.Gly270Arg)
c.750G>C (p.Trp250Cys)
c.45G>C (p.Trp15Cys)
c.662G>C
n.889G>C
n.550G>C
12g.57765051C>TCA385505207CYP27B1n.662G>A
c.831G>A (p.Trp277Ter)
c.808G>A (p.Gly270Arg)
c.750G>A (p.Trp250Ter)
c.45G>A (p.Trp15Ter)
c.662G>A
n.889G>A
n.550G>A
 ClinVar dbSNP
12g.57765052C>ACA385505208CYP27B1n.661G>T
c.830G>T (p.Trp277Leu)
c.807G>T (p.Leu269=)
c.749G>T (p.Trp250Leu)
c.44G>T (p.Trp15Leu)
c.661G>T
n.888G>T
n.549G>T
12g.57765052C>GCA385505209CYP27B1n.661G>C
c.830G>C (p.Trp277Ser)
c.807G>C (p.Leu269=)
c.749G>C (p.Trp250Ser)
c.44G>C (p.Trp15Ser)
c.661G>C
n.888G>C
n.549G>C
12g.57765052C>TCA385505210CYP27B1n.661G>A
c.830G>A (p.Trp277Ter)
c.807G>A (p.Leu269=)
c.749G>A (p.Trp250Ter)
c.44G>A (p.Trp15Ter)
c.661G>A
n.888G>A
n.549G>A
12g.57765053A=CA2038988598CYP27B1n.660T=
c.829T= (p.Trp277=)
c.806T= (p.Leu269=)
c.748T= (p.Trp250=)
c.43T= (p.Trp15=)
c.660T=
n.887T=
n.548T=
12g.57765053A>CCA385505211CYP27B1n.660T>G
c.829T>G (p.Trp277Gly)
c.806T>G (p.Leu269Arg)
c.748T>G (p.Trp250Gly)
c.43T>G (p.Trp15Gly)
c.660T>G
n.887T>G
n.548T>G
12g.57765053A>GCA385505212CYP27B1n.660T>C
c.829T>C (p.Trp277Arg)
c.806T>C (p.Leu269Pro)
c.748T>C (p.Trp250Arg)
c.43T>C (p.Trp15Arg)
c.660T>C
n.887T>C
n.548T>C
 dbSNP
12g.57765053A>TCA385505213CYP27B1n.660T>A
c.829T>A (p.Trp277Arg)
c.806T>A (p.Leu269Gln)
c.748T>A (p.Trp250Arg)
c.43T>A (p.Trp15Arg)
c.660T>A
n.887T>A
n.548T>A
12g.57765054G>ACA480402081CYP27B1n.659C>T
c.828C>T (p.Pro276=)
c.805C>T (p.Leu269=)
c.747C>T (p.Pro249=)
c.42C>T (p.Pro14=)
c.659C>T
n.886C>T
n.547C>T
12g.57765054G>CCA480402082CYP27B1n.659C>G
c.828C>G (p.Pro276=)
c.805C>G (p.Leu269Val)
c.747C>G (p.Pro249=)
c.42C>G (p.Pro14=)
c.659C>G
n.886C>G
n.547C>G
12g.57765054G>TCA480402083CYP27B1n.659C>A
c.828C>A (p.Pro276=)
c.805C>A (p.Leu269Met)
c.747C>A (p.Pro249=)
c.42C>A (p.Pro14=)
c.659C>A
n.886C>A
n.547C>A
12g.57765055G>ACA385505214CYP27B1n.658C>T
c.827C>T (p.Pro276Leu)
c.804C>T (p.Ala268=)
c.746C>T (p.Pro249Leu)
c.41C>T (p.Pro14Leu)
c.658C>T
n.885C>T
n.546C>T
12g.57765055G>CCA385505215CYP27B1n.658C>G
c.827C>G (p.Pro276Arg)
c.804C>G (p.Ala268=)
c.746C>G (p.Pro249Arg)
c.41C>G (p.Pro14Arg)
c.658C>G
n.885C>G
n.546C>G
 dbSNP gnomAD v2 gnomAD v4
12g.57765055G=CA2038988601CYP27B1n.658C=
c.827C= (p.Pro276=)
c.804C= (p.Ala268=)
c.746C= (p.Pro249=)
c.41C= (p.Pro14=)
c.658C=
n.885C=
n.546C=
12g.57765055G>TCA385505216CYP27B1n.658C>A
c.827C>A (p.Pro276His)
c.804C>A (p.Ala268=)
c.746C>A (p.Pro249His)
c.41C>A (p.Pro14His)
c.658C>A
n.885C>A
n.546C>A
12g.57765056G>ACA385505218CYP27B1n.657C>T
c.826C>T (p.Pro276Ser)
c.803C>T (p.Ala268Val)
c.745C>T (p.Pro249Ser)
c.40C>T (p.Pro14Ser)
c.657C>T
n.884C>T
n.545C>T
12g.57765056G>CCA385505219CYP27B1n.657C>G
c.826C>G (p.Pro276Ala)
c.803C>G (p.Ala268Gly)
c.745C>G (p.Pro249Ala)
c.40C>G (p.Pro14Ala)
c.657C>G
n.884C>G
n.545C>G
12g.57765056G>TCA385505217CYP27B1n.657C>A
c.826C>A (p.Pro276Thr)
c.803C>A (p.Ala268Asp)
c.745C>A (p.Pro249Thr)
c.40C>A (p.Pro14Thr)
c.657C>A
n.884C>A
n.545C>A
12g.57765057C>ACA480402084CYP27B1n.656G>T
c.825G>T (p.Gly275=)
c.802G>T (p.Ala268Ser)
c.744G>T (p.Gly248=)
c.39G>T (p.Gly13=)
c.656G>T
n.883G>T
n.544G>T
12g.57765057C=CA2038988605CYP27B1n.656G=
c.825G= (p.Gly275=)
c.802G= (p.Ala268=)
c.744G= (p.Gly248=)
c.39G= (p.Gly13=)
c.656G=
n.883G=
n.544G=
12g.57765057C>GCA480402085CYP27B1n.656G>C
c.825G>C (p.Gly275=)
c.802G>C (p.Ala268Pro)
c.744G>C (p.Gly248=)
c.39G>C (p.Gly13=)
c.656G>C
n.883G>C
n.544G>C
12g.57765057C>TCA237814764CYP27B1n.656G>A
c.825G>A (p.Gly275=)
c.802G>A (p.Ala268Thr)
c.744G>A (p.Gly248=)
c.39G>A (p.Gly13=)
c.656G>A
n.883G>A
n.544G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.57765058C>ACA385505220CYP27B1n.655G>T
c.824G>T (p.Gly275Val)
c.801G>T (p.Trp267Cys)
c.743G>T (p.Gly248Val)
c.38G>T (p.Gly13Val)
c.655G>T
n.882G>T
n.543G>T
12g.57765058C=CA2038988611CYP27B1n.655G=
c.824G= (p.Gly275=)
c.801G= (p.Trp267=)
c.743G= (p.Gly248=)
c.38G= (p.Gly13=)
c.655G=
n.882G=
n.543G=
12g.57765058C>GCA385505221CYP27B1n.655G>C
c.824G>C (p.Gly275Ala)
c.801G>C (p.Trp267Cys)
c.743G>C (p.Gly248Ala)
c.38G>C (p.Gly13Ala)
c.655G>C
n.882G>C
n.543G>C
12g.57765058C>TCA385505222CYP27B1n.655G>A
c.824G>A (p.Gly275Glu)
c.801G>A (p.Trp267Ter)
c.743G>A (p.Gly248Glu)
c.38G>A (p.Gly13Glu)
c.655G>A
n.882G>A
n.543G>A
 dbSNP
12g.57765059C>ACA385505224CYP27B1n.654G>T
c.823G>T (p.Gly275Trp)
c.800G>T (p.Trp267Leu)
c.742G>T (p.Gly248Trp)
c.37G>T (p.Gly13Trp)
c.654G>T
n.881G>T
n.542G>T
 COSMIC
12g.57765059C=CA2038988617CYP27B1n.654G=
c.823G= (p.Gly275=)
c.800G= (p.Trp267=)
c.742G= (p.Gly248=)
c.37G= (p.Gly13=)
c.654G=
n.881G=
n.542G=
12g.57765059C>GCA385505223CYP27B1n.654G>C
c.823G>C (p.Gly275Arg)
c.800G>C (p.Trp267Ser)
c.742G>C (p.Gly248Arg)
c.37G>C (p.Gly13Arg)
c.654G>C
n.881G>C
n.542G>C
12g.57765059C>TCA6658342CYP27B1n.654G>A
c.823G>A (p.Gly275Arg)
c.800G>A (p.Trp267Ter)
c.742G>A (p.Gly248Arg)
c.37G>A (p.Gly13Arg)
c.654G>A
n.881G>A
n.542G>A
 dbSNP ExAC gnomAD v2
12g.57765060A>CCA480402086CYP27B1n.653T>G
c.822T>G (p.Pro274=)
c.799T>G (p.Trp267Gly)
c.741T>G (p.Pro247=)
c.36T>G (p.Pro12=)
c.653T>G
n.880T>G
n.541T>G
12g.57765060A>GCA480402087CYP27B1n.653T>C
c.822T>C (p.Pro274=)
c.799T>C (p.Trp267Arg)
c.741T>C (p.Pro247=)
c.36T>C (p.Pro12=)
c.653T>C
n.880T>C
n.541T>C
12g.57765060A>TCA480402088CYP27B1n.653T>A
c.822T>A (p.Pro274=)
c.799T>A (p.Trp267Arg)
c.741T>A (p.Pro247=)
c.36T>A (p.Pro12=)
c.653T>A
n.880T>A
n.541T>A
12g.57765060_57765061delCA2619516751CYP27B1n.652_653del
c.821_822del (p.Pro274ArgfsTer?)
c.798_799del (p.Trp267GlyfsTer?)
c.740_741del (p.Pro247ArgfsTer?)
c.35_36del (p.Pro12ArgfsTer?)
c.652_653del
n.879_880del
n.540_541del
 gnomAD v4
12g.57765061G>ACA385505225CYP27B1n.652C>T
c.821C>T (p.Pro274Leu)
c.798C>T (p.Ala266=)
c.740C>T (p.Pro247Leu)
c.35C>T (p.Pro12Leu)
c.652C>T
n.879C>T
n.540C>T
12g.57765061G>CCA385505226CYP27B1n.652C>G
c.821C>G (p.Pro274Arg)
c.798C>G (p.Ala266=)
c.740C>G (p.Pro247Arg)
c.35C>G (p.Pro12Arg)
c.652C>G
n.879C>G
n.540C>G
12g.57765061G>TCA385505227CYP27B1n.652C>A
c.821C>A (p.Pro274His)
c.798C>A (p.Ala266=)
c.740C>A (p.Pro247His)
c.35C>A (p.Pro12His)
c.652C>A
n.879C>A
n.540C>A
12g.57765061_57765073delinsGGCACAAGGTGGCCA2038988620CYP27B1n.640_652delinsGCCACCTTGTGCC
c.809_821delinsGCCACCTTGTGCC (p.Arg270=)
c.786_798delinsGCCACCTTGTGCC (p.Ala262=)
c.728_740delinsGCCACCTTGTGCC (p.Arg243=)
c.23_35delinsGCCACCTTGTGCC (p.Arg8=)
c.640_652delinsGCCACCTTGTGCC
n.867_879delinsGCCACCTTGTGCC
n.528_540delinsGCCACCTTGTGCC
12g.57765062G>ACA385505228CYP27B1n.651C>T
c.820C>T (p.Pro274Ser)
c.797C>T (p.Ala266Val)
c.739C>T (p.Pro247Ser)
c.34C>T (p.Pro12Ser)
c.651C>T
n.878C>T
n.539C>T
12g.57765062G>CCA385505229CYP27B1n.651C>G
c.820C>G (p.Pro274Ala)
c.797C>G (p.Ala266Gly)
c.739C>G (p.Pro247Ala)
c.34C>G (p.Pro12Ala)
c.651C>G
n.878C>G
n.539C>G
12g.57765062G>TCA385505230CYP27B1n.651C>A
c.820C>A (p.Pro274Thr)
c.797C>A (p.Ala266Asp)
c.739C>A (p.Pro247Thr)
c.34C>A (p.Pro12Thr)
c.651C>A
n.878C>A
n.539C>A
12g.57765065_57765076delCA2038988623CYP27B1n.640_651del
c.809_820del (p.Arg270_Val273del)
c.786_797del (p.Pro263_Ala266del)
c.728_739del (p.Arg243_Val246del)
c.23_34del (p.Arg8_Val11del)
c.640_651del
n.867_878del
n.528_539del
 dbSNP
12g.57765063C>ACA480402091CYP27B1n.650G>T
c.819G>T (p.Val273=)
c.796G>T (p.Ala266Ser)
c.738G>T (p.Val246=)
c.33G>T (p.Val11=)
c.650G>T
n.877G>T
n.538G>T
12g.57765063C>GCA480402090CYP27B1n.650G>C
c.819G>C (p.Val273=)
c.796G>C (p.Ala266Pro)
c.738G>C (p.Val246=)
c.33G>C (p.Val11=)
c.650G>C
n.877G>C
n.538G>C
12g.57765063C>TCA480402089CYP27B1n.650G>A
c.819G>A (p.Val273=)
c.796G>A (p.Ala266Thr)
c.738G>A (p.Val246=)
c.33G>A (p.Val11=)
c.650G>A
n.877G>A
n.538G>A
12g.57765064A>CCA385505233CYP27B1n.649T>G
c.818T>G (p.Val273Gly)
c.795T>G (p.Cys265Trp)
c.737T>G (p.Val246Gly)
c.32T>G (p.Val11Gly)
c.649T>G
n.876T>G
n.537T>G
12g.57765064A>GCA385505232CYP27B1n.649T>C
c.818T>C (p.Val273Ala)
c.795T>C (p.Cys265=)
c.737T>C (p.Val246Ala)
c.32T>C (p.Val11Ala)
c.649T>C
n.876T>C
n.537T>C
 gnomAD v4
12g.57765064A>TCA385505231CYP27B1n.649T>A
c.818T>A (p.Val273Glu)
c.795T>A (p.Cys265Ter)
c.737T>A (p.Val246Glu)
c.32T>A (p.Val11Glu)
c.649T>A
n.876T>A
n.537T>A
12g.57765065C>ACA385505234CYP27B1n.648G>T
c.817G>T (p.Val273Leu)
c.794G>T (p.Cys265Phe)
c.736G>T (p.Val246Leu)
c.31G>T (p.Val11Leu)
c.648G>T
n.875G>T
n.536G>T
12g.57765065C>GCA385505236CYP27B1n.648G>C
c.817G>C (p.Val273Leu)
c.794G>C (p.Cys265Ser)
c.736G>C (p.Val246Leu)
c.31G>C (p.Val11Leu)
c.648G>C
n.875G>C
n.536G>C
12g.57765065C>TCA385505235CYP27B1n.648G>A
c.817G>A (p.Val273Met)
c.794G>A (p.Cys265Tyr)
c.736G>A (p.Val246Met)
c.31G>A (p.Val11Met)
c.648G>A
n.875G>A
n.536G>A
12g.57765066A=CA2038988631CYP27B1n.647T=
c.816T= (p.Leu272=)
c.793T= (p.Cys265=)
c.735T= (p.Leu245=)
c.30T= (p.Leu10=)
c.647T=
n.874T=
n.535T=
12g.57765066A>CCA480402092CYP27B1n.647T>G
c.816T>G (p.Leu272=)
c.793T>G (p.Cys265Gly)
c.735T>G (p.Leu245=)
c.30T>G (p.Leu10=)
c.647T>G
n.874T>G
n.535T>G
12g.57765066A>GCA6658343CYP27B1n.647T>C
c.816T>C (p.Leu272=)
c.793T>C (p.Cys265Arg)
c.735T>C (p.Leu245=)
c.30T>C (p.Leu10=)
c.647T>C
n.874T>C
n.535T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765066A>TCA480402093CYP27B1n.647T>A
c.816T>A (p.Leu272=)
c.793T>A (p.Cys265Ser)
c.735T>A (p.Leu245=)
c.30T>A (p.Leu10=)
c.647T>A
n.874T>A
n.535T>A
12g.57765067A>CCA385505239CYP27B1n.646T>G
c.815T>G (p.Leu272Arg)
c.792T>G (p.Pro264=)
c.734T>G (p.Leu245Arg)
c.29T>G (p.Leu10Arg)
c.646T>G
n.873T>G
n.534T>G
12g.57765067A>GCA385505237CYP27B1n.646T>C
c.815T>C (p.Leu272Pro)
c.792T>C (p.Pro264=)
c.734T>C (p.Leu245Pro)
c.29T>C (p.Leu10Pro)
c.646T>C
n.873T>C
n.534T>C
12g.57765067A>TCA385505238CYP27B1n.646T>A
c.815T>A (p.Leu272His)
c.792T>A (p.Pro264=)
c.734T>A (p.Leu245His)
c.29T>A (p.Leu10His)
c.646T>A
n.873T>A
n.534T>A
12g.57765068G>ACA6658344CYP27B1n.645C>T
c.814C>T (p.Leu272Phe)
c.791C>T (p.Pro264Leu)
c.733C>T (p.Leu245Phe)
c.28C>T (p.Leu10Phe)
c.645C>T
n.872C>T
n.533C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765068G>CCA385505240CYP27B1n.645C>G
c.814C>G (p.Leu272Val)
c.791C>G (p.Pro264Arg)
c.733C>G (p.Leu245Val)
c.28C>G (p.Leu10Val)
c.645C>G
n.872C>G
n.533C>G
12g.57765068G=CA2038988635CYP27B1n.645C=
c.814C= (p.Leu272=)
c.791C= (p.Pro264=)
c.733C= (p.Leu245=)
c.28C= (p.Leu10=)
c.645C=
n.872C=
n.533C=
12g.57765068G>TCA385505241CYP27B1n.645C>A
c.814C>A (p.Leu272Ile)
c.791C>A (p.Pro264His)
c.733C>A (p.Leu245Ile)
c.28C>A (p.Leu10Ile)
c.645C>A
n.872C>A
n.533C>A
12g.57765069G>ACA480402094CYP27B1n.644C>T
c.813C>T (p.His271=)
c.790C>T (p.Pro264Ser)
c.732C>T (p.His244=)
c.27C>T (p.His9=)
c.644C>T
n.871C>T
n.532C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765069G>CCA385505242CYP27B1n.644C>G
c.813C>G (p.His271Gln)
c.790C>G (p.Pro264Ala)
c.732C>G (p.His244Gln)
c.27C>G (p.His9Gln)
c.644C>G
n.871C>G
n.532C>G
12g.57765069G=CA2038988640CYP27B1n.644C=
c.813C= (p.His271=)
c.790C= (p.Pro264=)
c.732C= (p.His244=)
c.27C= (p.His9=)
c.644C=
n.871C=
n.532C=
12g.57765069G>TCA385505243CYP27B1n.644C>A
c.813C>A (p.His271Gln)
c.790C>A (p.Pro264Thr)
c.732C>A (p.His244Gln)
c.27C>A (p.His9Gln)
c.644C>A
n.871C>A
n.532C>A
12g.57765070T>ACA6658345CYP27B1n.643A>T
c.812A>T (p.His271Leu)
c.789A>T (p.Pro263=)
c.731A>T (p.His244Leu)
c.26A>T (p.His9Leu)
c.643A>T
n.870A>T
n.531A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765070T>CCA6658346CYP27B1n.643A>G
c.812A>G (p.His271Arg)
c.789A>G (p.Pro263=)
c.731A>G (p.His244Arg)
c.26A>G (p.His9Arg)
c.643A>G
n.870A>G
n.531A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765070T>GCA385505244CYP27B1n.643A>C
c.812A>C (p.His271Pro)
c.789A>C (p.Pro263=)
c.731A>C (p.His244Pro)
c.26A>C (p.His9Pro)
c.643A>C
n.870A>C
n.531A>C
 dbSNP
12g.57765070T=CA2038988652CYP27B1n.643A=
c.812A= (p.His271=)
c.789A= (p.Pro263=)
c.731A= (p.His244=)
c.26A= (p.His9=)
c.643A=
n.870A=
n.531A=
12g.57765071G>ACA385505245CYP27B1n.642C>T
c.811C>T (p.His271Tyr)
c.788C>T (p.Pro263Leu)
c.730C>T (p.His244Tyr)
c.25C>T (p.His9Tyr)
c.642C>T
n.869C>T
n.530C>T
12g.57765071G>CCA385505246CYP27B1n.642C>G
c.811C>G (p.His271Asp)
c.788C>G (p.Pro263Arg)
c.730C>G (p.His244Asp)
c.25C>G (p.His9Asp)
c.642C>G
n.869C>G
n.530C>G
12g.57765071G=CA2038988656CYP27B1n.642C=
c.811C= (p.His271=)
c.788C= (p.Pro263=)
c.730C= (p.His244=)
c.25C= (p.His9=)
c.642C=
n.869C=
n.530C=
12g.57765071G>TCA385505247CYP27B1n.642C>A
c.811C>A (p.His271Asn)
c.788C>A (p.Pro263Gln)
c.730C>A (p.His244Asn)
c.25C>A (p.His9Asn)
c.642C>A
n.869C>A
n.530C>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched