Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57765126_57765138delinsCACAGCGCGGATGCA2038988798CYP27B1n.575_587delinsCATCCGCGCTGTG
c.744_756delinsCATCCGCGCTGTG (p.Phe248=)
c.721_733delinsCATCCGCGCTGTG (p.His241=)
c.663_675delinsCATCCGCGCTGTG (p.Phe221=)
c.-43_-31delinsCATCCGCGCTGTG (n.-43_-31delinsCATCCGCGCTGTG)
c.575_587delinsCATCCGCGCTGTG
n.802_814delinsCATCCGCGCTGTG
n.463_475delinsCATCCGCGCTGTG
12g.57765128_57765139delCA2038988807CYP27B1n.575_586del
c.744_755del (p.Phe248_Val252delinsLeu)
c.721_732del (p.His241_Cys244del)
c.663_674del (p.Phe221_Val225delinsLeu)
c.-43_-32del (n.-43_-32del)
c.575_586del
n.802_813del
n.463_474del
 dbSNP
12g.57765137delCA2796149716CYP27B1n.576del
c.745del (p.Ile249SerfsTer13)
c.722del (p.His241LeufsTer?)
c.664del (p.Ile222SerfsTer13)
c.-42del (n.-42del)
c.576del
n.803del
n.464del
12g.57765137T>ACA385505379CYP27B1n.576A>T
c.745A>T (p.Ile249Phe)
c.722A>T (p.His241Leu)
c.664A>T (p.Ile222Phe)
c.-42A>T (n.-42A>T)
c.576A>T
n.803A>T
n.464A>T
12g.57765137T>CCA385505380CYP27B1n.576A>G
c.745A>G (p.Ile249Val)
c.722A>G (p.His241Arg)
c.664A>G (p.Ile222Val)
c.-42A>G (n.-42A>G)
c.576A>G
n.803A>G
n.464A>G
 dbSNP gnomAD v3 gnomAD v4
12g.57765137T>GCA385505381CYP27B1n.576A>C
c.745A>C (p.Ile249Leu)
c.722A>C (p.His241Pro)
c.664A>C (p.Ile222Leu)
c.-42A>C (n.-42A>C)
c.576A>C
n.803A>C
n.464A>C
12g.57765137T=CA2038988836CYP27B1n.576A=
c.745A= (p.Ile249=)
c.722A= (p.His241=)
c.664A= (p.Ile222=)
c.-42A= (n.-42A=)
c.576A=
n.803A=
n.464A=
12g.57765138G>ACA480403090CYP27B1n.575C>T
c.744C>T (p.Phe248=)
c.721C>T (p.His241Tyr)
c.663C>T (p.Phe221=)
c.-43C>T (n.-43C>T)
c.575C>T
n.802C>T
n.463C>T
 dbSNP gnomAD v4
12g.57765138G>CCA385505382CYP27B1n.575C>G
c.744C>G (p.Phe248Leu)
c.721C>G (p.His241Asp)
c.663C>G (p.Phe221Leu)
c.-43C>G (n.-43C>G)
c.575C>G
n.802C>G
n.463C>G
12g.57765138G=CA2038988839CYP27B1n.575C=
c.744C= (p.Phe248=)
c.721C= (p.His241=)
c.663C= (p.Phe221=)
c.-43C= (n.-43C=)
c.575C=
n.802C=
n.463C=
12g.57765138G>TCA385505383CYP27B1n.575C>A
c.744C>A (p.Phe248Leu)
c.721C>A (p.His241Asn)
c.663C>A (p.Phe221Leu)
c.-43C>A (n.-43C>A)
c.575C>A
n.802C>A
n.463C>A
 gnomAD v4
12g.57765139A>CCA385505386CYP27B1n.574T>G
c.743T>G (p.Phe248Cys)
c.720T>G (p.Leu240=)
c.662T>G (p.Phe221Cys)
c.-44T>G (n.-44T>G)
c.574T>G
n.801T>G
n.462T>G
12g.57765139A>GCA385505384CYP27B1n.574T>C
c.743T>C (p.Phe248Ser)
c.720T>C (p.Leu240=)
c.662T>C (p.Phe221Ser)
c.-44T>C (n.-44T>C)
c.574T>C
n.801T>C
n.462T>C
12g.57765139A>TCA385505385CYP27B1n.574T>A
c.743T>A (p.Phe248Tyr)
c.720T>A (p.Leu240=)
c.662T>A (p.Phe221Tyr)
c.-44T>A (n.-44T>A)
c.574T>A
n.801T>A
n.462T>A
12g.57765140A>CCA385505387CYP27B1n.573T>G
c.742T>G (p.Phe248Val)
c.719T>G (p.Leu240Arg)
c.661T>G (p.Phe221Val)
c.-45T>G (n.-45T>G)
c.573T>G
n.800T>G
n.461T>G
12g.57765140A>GCA385505388CYP27B1n.573T>C
c.742T>C (p.Phe248Leu)
c.719T>C (p.Leu240Pro)
c.661T>C (p.Phe221Leu)
c.-45T>C (n.-45T>C)
c.573T>C
n.800T>C
n.461T>C
12g.57765140A>TCA385505389CYP27B1n.573T>A
c.742T>A (p.Phe248Ile)
c.719T>A (p.Leu240His)
c.661T>A (p.Phe221Ile)
c.-45T>A (n.-45T>A)
c.573T>A
n.800T>A
n.461T>A
12g.57765141G>ACA480403105CYP27B1n.572C>T
c.741C>T (p.Thr247=)
c.718C>T (p.Leu240Phe)
c.660C>T (p.Thr220=)
c.-46C>T (n.-46C>T)
c.572C>T
n.799C>T
n.460C>T
 dbSNP gnomAD v2
12g.57765141G>CCA480403110CYP27B1n.572C>G
c.741C>G (p.Thr247=)
c.718C>G (p.Leu240Val)
c.660C>G (p.Thr220=)
c.-46C>G (n.-46C>G)
c.572C>G
n.799C>G
n.460C>G
12g.57765141G=CA2038988842CYP27B1n.572C=
c.741C= (p.Thr247=)
c.718C= (p.Leu240=)
c.660C= (p.Thr220=)
c.-46C= (n.-46C=)
c.572C=
n.799C=
n.460C=
12g.57765141G>TCA480403112CYP27B1n.572C>A
c.741C>A (p.Thr247=)
c.718C>A (p.Leu240Ile)
c.660C>A (p.Thr220=)
c.-46C>A (n.-46C>A)
c.572C>A
n.799C>A
n.460C>A
12g.57765142G>ACA385505390CYP27B1n.571C>T
c.740C>T (p.Thr247Ile)
c.717C>T (p.Asp239=)
c.659C>T (p.Thr220Ile)
c.-47C>T (n.-47C>T)
c.571C>T
n.798C>T
n.459C>T
12g.57765142G>CCA385505391CYP27B1n.571C>G
c.740C>G (p.Thr247Ser)
c.717C>G (p.Asp239Glu)
c.659C>G (p.Thr220Ser)
c.-47C>G (n.-47C>G)
c.571C>G
n.798C>G
n.459C>G
12g.57765142G=CA2038988848CYP27B1n.571C=
c.740C= (p.Thr247=)
c.717C= (p.Asp239=)
c.659C= (p.Thr220=)
c.-47C= (n.-47C=)
c.571C=
n.798C=
n.459C=
12g.57765142G>TCA237814896CYP27B1n.571C>A
c.740C>A (p.Thr247Asn)
c.717C>A (p.Asp239Glu)
c.659C>A (p.Thr220Asn)
c.-47C>A (n.-47C>A)
c.571C>A
n.798C>A
n.459C>A
 dbSNP gnomAD v4
12g.57765142_57765152delinsGTCTCCGTGTCCA2038988847CYP27B1n.561_571delinsGACACGGAGAC
c.730_740delinsGACACGGAGAC (p.Asp244=)
c.707_717delinsGACACGGAGAC (p.Arg236=)
c.649_659delinsGACACGGAGAC (p.Asp217=)
c.-57_-47delinsGACACGGAGAC (n.-57_-47delinsGACACGGAGAC)
c.561_571delinsGACACGGAGAC
n.788_798delinsGACACGGAGAC
n.449_459delinsGACACGGAGAC
12g.57765143T>ACA385505392CYP27B1n.570A>T
c.739A>T (p.Thr247Ser)
c.716A>T (p.Asp239Val)
c.658A>T (p.Thr220Ser)
c.-48A>T (n.-48A>T)
c.570A>T
n.797A>T
n.458A>T
12g.57765143T>CCA385505393CYP27B1n.570A>G
c.739A>G (p.Thr247Ala)
c.716A>G (p.Asp239Gly)
c.658A>G (p.Thr220Ala)
c.-48A>G (n.-48A>G)
c.570A>G
n.797A>G
n.458A>G
12g.57765143T>GCA385505394CYP27B1n.570A>C
c.739A>C (p.Thr247Pro)
c.716A>C (p.Asp239Ala)
c.658A>C (p.Thr220Pro)
c.-48A>C (n.-48A>C)
c.570A>C
n.797A>C
n.458A>C
12g.57765143_57765152delCA6658361CYP27B1n.561_570del
c.730_739del (p.Asp244ProfsTer15)
c.707_716del (p.Arg236ProfsTer?)
c.649_658del (p.Asp217ProfsTer15)
c.-57_-48del (n.-57_-48del)
c.561_570del
n.788_797del
n.449_458del
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765144C>ACA385505395CYP27B1n.569G>T
c.738G>T (p.Glu246Asp)
c.715G>T (p.Asp239Tyr)
c.657G>T (p.Glu219Asp)
c.-49G>T (n.-49G>T)
c.569G>T
n.796G>T
n.457G>T
12g.57765144C=CA2038988855CYP27B1n.569G=
c.738G= (p.Glu246=)
c.715G= (p.Asp239=)
c.657G= (p.Glu219=)
c.-49G= (n.-49G=)
c.569G=
n.796G=
n.457G=
12g.57765144C>GCA6658362CYP27B1n.569G>C
c.738G>C (p.Glu246Asp)
c.715G>C (p.Asp239His)
c.657G>C (p.Glu219Asp)
c.-49G>C (n.-49G>C)
c.569G>C
n.796G>C
n.457G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765144C>TCA480403135CYP27B1n.569G>A
c.738G>A (p.Glu246=)
c.715G>A (p.Asp239Asn)
c.657G>A (p.Glu219=)
c.-49G>A (n.-49G>A)
c.569G>A
n.796G>A
n.457G>A
 ClinVar gnomAD v4
12g.57765144_57765145delinsCTCA2038988859CYP27B1n.568_569delinsAG
c.737_738delinsAG (p.Glu246=)
c.714_715delinsAG (p.Gly238=)
c.656_657delinsAG (p.Glu219=)
c.-50_-49delinsAG (n.-50_-49delinsAG)
c.568_569delinsAG
n.795_796delinsAG
n.456_457delinsAG
12g.57765145delCA6658363CYP27B1n.568del
c.737del (p.Glu246GlyfsTer16)
c.714del (p.Asp239ThrfsTer?)
c.656del (p.Glu219GlyfsTer16)
c.-50del (n.-50del)
c.568del
n.795del
n.456del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765145T>ACA385505397CYP27B1n.568A>T
c.737A>T (p.Glu246Val)
c.714A>T (p.Gly238=)
c.656A>T (p.Glu219Val)
c.-50A>T (n.-50A>T)
c.568A>T
n.795A>T
n.456A>T
12g.57765145T>CCA385505398CYP27B1n.568A>G
c.737A>G (p.Glu246Gly)
c.714A>G (p.Gly238=)
c.656A>G (p.Glu219Gly)
c.-50A>G (n.-50A>G)
c.568A>G
n.795A>G
n.456A>G
 gnomAD v4
12g.57765145T>GCA385505396CYP27B1n.568A>C
c.737A>C (p.Glu246Ala)
c.714A>C (p.Gly238=)
c.656A>C (p.Glu219Ala)
c.-50A>C (n.-50A>C)
c.568A>C
n.795A>C
n.456A>C
12g.57765145_57765220delinsCCCTCA2573148893CYP27B1n.502-9_568delinsAGGG
c.671-9_737delinsAGGG
c.648-9_714delinsAGGG
c.590-9_656delinsAGGG
c.-116-9_-50delinsAGGG
c.502-9_568delinsAGGG
n.720_795delinsAGGG
n.390-9_456delinsAGGG
 ClinVar dbSNP
12g.57765146C>ACA385505401CYP27B1n.567G>T
c.736G>T (p.Glu246Ter)
c.713G>T (p.Gly238Val)
c.655G>T (p.Glu219Ter)
c.-51G>T (n.-51G>T)
c.567G>T
n.794G>T
n.455G>T
12g.57765146C>GCA385505399CYP27B1n.567G>C
c.736G>C (p.Glu246Gln)
c.713G>C (p.Gly238Ala)
c.655G>C (p.Glu219Gln)
c.-51G>C (n.-51G>C)
c.567G>C
n.794G>C
n.455G>C
12g.57765146C>TCA385505400CYP27B1n.567G>A
c.736G>A (p.Glu246Lys)
c.713G>A (p.Gly238Glu)
c.655G>A (p.Glu219Lys)
c.-51G>A (n.-51G>A)
c.567G>A
n.794G>A
n.455G>A
12g.57765147C>ACA480403140CYP27B1n.566G>T
c.735G>T (p.Thr245=)
c.712G>T (p.Gly238Ter)
c.654G>T (p.Thr218=)
c.-52G>T (n.-52G>T)
c.566G>T
n.793G>T
n.454G>T
 dbSNP gnomAD v2 gnomAD v4
12g.57765147C=CA2038988864CYP27B1n.566G=
c.735G= (p.Thr245=)
c.712G= (p.Gly238=)
c.654G= (p.Thr218=)
c.-52G= (n.-52G=)
c.566G=
n.793G=
n.454G=
12g.57765147C>GCA480403141CYP27B1n.566G>C
c.735G>C (p.Thr245=)
c.712G>C (p.Gly238Arg)
c.654G>C (p.Thr218=)
c.-52G>C (n.-52G>C)
c.566G>C
n.793G>C
n.454G>C
 dbSNP gnomAD v4
12g.57765147C>TCA480403142CYP27B1n.566G>A
c.735G>A (p.Thr245=)
c.712G>A (p.Gly238Arg)
c.654G>A (p.Thr218=)
c.-52G>A (n.-52G>A)
c.566G>A
n.793G>A
n.454G>A
 ClinVar dbSNP gnomAD v4
12g.57765147_57765160delinsCGTGTCGGGTGGCACA2038988863CYP27B1n.553_566delinsTGCCACCCGACACG
c.722_735delinsTGCCACCCGACACG (p.Val241=)
c.699_712delinsTGCCACCCGACACG (p.Ser233=)
c.641_654delinsTGCCACCCGACACG (p.Val214=)
c.-65_-52delinsTGCCACCCGACACG (n.-65_-52delinsTGCCACCCGACACG)
c.553_566delinsTGCCACCCGACACG
n.780_793delinsTGCCACCCGACACG
n.441_454delinsTGCCACCCGACACG
12g.57765148G>ACA385505404CYP27B1n.565C>T
c.734C>T (p.Thr245Met)
c.711C>T (p.His237=)
c.653C>T (p.Thr218Met)
c.-53C>T (n.-53C>T)
c.565C>T
n.792C>T
n.453C>T
 gnomAD v4
12g.57765148G>CCA385505406CYP27B1n.565C>G
c.734C>G (p.Thr245Arg)
c.711C>G (p.His237Gln)
c.653C>G (p.Thr218Arg)
c.-53C>G (n.-53C>G)
c.565C>G
n.792C>G
n.453C>G

Number of alleles fetched