Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57765083G>ACA385505270CYP27B1n.630C>T
c.799C>T (p.His267Tyr)
c.776C>T (p.Pro259Leu)
c.718C>T (p.His240Tyr)
c.13C>T (p.His5Tyr)
c.630C>T
n.857C>T
n.518C>T
12g.57765083G>CCA385505271CYP27B1n.630C>G
c.799C>G (p.His267Asp)
c.776C>G (p.Pro259Arg)
c.718C>G (p.His240Asp)
c.13C>G (p.His5Asp)
c.630C>G
n.857C>G
n.518C>G
12g.57765083G>TCA385505272CYP27B1n.630C>A
c.799C>A (p.His267Asn)
c.776C>A (p.Pro259Gln)
c.718C>A (p.His240Asn)
c.13C>A (p.His5Asn)
c.630C>A
n.857C>A
n.518C>A
12g.57765084G>ACA480402102CYP27B1n.629C>T
c.798C>T (p.Pro266=)
c.775C>T (p.Pro259Ser)
c.717C>T (p.Pro239=)
c.12C>T (p.Pro4=)
c.629C>T
n.856C>T
n.517C>T
12g.57765084G>CCA480402103CYP27B1n.629C>G
c.798C>G (p.Pro266=)
c.775C>G (p.Pro259Ala)
c.717C>G (p.Pro239=)
c.12C>G (p.Pro4=)
c.629C>G
n.856C>G
n.517C>G
12g.57765084G=CA2038988689CYP27B1n.629C=
c.798C= (p.Pro266=)
c.775C= (p.Pro259=)
c.717C= (p.Pro239=)
c.12C= (p.Pro4=)
c.629C=
n.856C=
n.517C=
12g.57765084G>TCA6658351CYP27B1n.629C>A
c.798C>A (p.Pro266=)
c.775C>A (p.Pro259Thr)
c.717C>A (p.Pro239=)
c.12C>A (p.Pro4=)
c.629C>A
n.856C>A
n.517C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765085G>ACA385505275CYP27B1n.628C>T
c.797C>T (p.Pro266Leu)
c.774C>T (p.Ala258=)
c.716C>T (p.Pro239Leu)
c.11C>T (p.Pro4Leu)
c.628C>T
n.855C>T
n.516C>T
 gnomAD v4
12g.57765085G>CCA385505274CYP27B1n.628C>G
c.797C>G (p.Pro266Arg)
c.774C>G (p.Ala258=)
c.716C>G (p.Pro239Arg)
c.11C>G (p.Pro4Arg)
c.628C>G
n.855C>G
n.516C>G
12g.57765085G>TCA385505273CYP27B1n.628C>A
c.797C>A (p.Pro266His)
c.774C>A (p.Ala258=)
c.716C>A (p.Pro239His)
c.11C>A (p.Pro4His)
c.628C>A
n.855C>A
n.516C>A
12g.57765086G>ACA385505276CYP27B1n.627C>T
c.796C>T (p.Pro266Ser)
c.773C>T (p.Ala258Val)
c.715C>T (p.Pro239Ser)
c.10C>T (p.Pro4Ser)
c.627C>T
n.854C>T
n.515C>T
12g.57765086G>CCA385505277CYP27B1n.627C>G
c.796C>G (p.Pro266Ala)
c.773C>G (p.Ala258Gly)
c.715C>G (p.Pro239Ala)
c.10C>G (p.Pro4Ala)
c.627C>G
n.854C>G
n.515C>G
12g.57765086G>TCA385505278CYP27B1n.627C>A
c.796C>A (p.Pro266Thr)
c.773C>A (p.Ala258Asp)
c.715C>A (p.Pro239Thr)
c.10C>A (p.Pro4Thr)
c.627C>A
n.854C>A
n.515C>A
 ClinVar
12g.57765087C>ACA385505279CYP27B1n.626G>T
c.795G>T (p.Met265Ile)
c.772G>T (p.Ala258Ser)
c.714G>T (p.Met238Ile)
c.9G>T (p.Met3Ile)
c.626G>T
n.853G>T
n.514G>T
12g.57765087C>GCA385505280CYP27B1n.626G>C
c.795G>C (p.Met265Ile)
c.772G>C (p.Ala258Pro)
c.714G>C (p.Met238Ile)
c.9G>C (p.Met3Ile)
c.626G>C
n.853G>C
n.514G>C
12g.57765087C>TCA385505281CYP27B1n.626G>A
c.795G>A (p.Met265Ile)
c.772G>A (p.Ala258Thr)
c.714G>A (p.Met238Ile)
c.9G>A (p.Met3Ile)
c.626G>A
n.853G>A
n.514G>A
12g.57765088A>CCA385505282CYP27B1n.625T>G
c.794T>G (p.Met265Arg)
c.771T>G (p.Asp257Glu)
c.713T>G (p.Met238Arg)
c.8T>G (p.Met3Arg)
c.625T>G
n.852T>G
n.513T>G
12g.57765088A>GCA385505283CYP27B1n.625T>C
c.794T>C (p.Met265Thr)
c.771T>C (p.Asp257=)
c.713T>C (p.Met238Thr)
c.8T>C (p.Met3Thr)
c.625T>C
n.852T>C
n.513T>C
12g.57765088A>TCA385505284CYP27B1n.625T>A
c.794T>A (p.Met265Lys)
c.771T>A (p.Asp257Glu)
c.713T>A (p.Met238Lys)
c.8T>A (p.Met3Lys)
c.625T>A
n.852T>A
n.513T>A
12g.57765089T>ACA385505285CYP27B1n.624A>T
c.793A>T (p.Met265Leu)
c.770A>T (p.Asp257Val)
c.712A>T (p.Met238Leu)
c.7A>T (p.Met3Leu)
c.624A>T
n.851A>T
n.512A>T
12g.57765089T>CCA385505286CYP27B1n.624A>G
c.793A>G (p.Met265Val)
c.770A>G (p.Asp257Gly)
c.712A>G (p.Met238Val)
c.7A>G (p.Met3Val)
c.624A>G
n.851A>G
n.512A>G
12g.57765089T>GCA385505287CYP27B1n.624A>C
c.793A>C (p.Met265Leu)
c.770A>C (p.Asp257Ala)
c.712A>C (p.Met238Leu)
c.7A>C (p.Met3Leu)
c.624A>C
n.851A>C
n.512A>C
12g.57765090C>ACA237814812CYP27B1n.623G>T
c.792G>T (p.Ala264=)
c.769G>T (p.Asp257Tyr)
c.711G>T (p.Ala237=)
c.6G>T (p.Ala2=)
c.623G>T
n.850G>T
n.511G>T
 dbSNP
12g.57765090C=CA2038988700CYP27B1n.623G=
c.792G= (p.Ala264=)
c.769G= (p.Asp257=)
c.711G= (p.Ala237=)
c.6G= (p.Ala2=)
c.623G=
n.850G=
n.511G=
12g.57765090C>GCA480402104CYP27B1n.623G>C
c.792G>C (p.Ala264=)
c.769G>C (p.Asp257His)
c.711G>C (p.Ala237=)
c.6G>C (p.Ala2=)
c.623G>C
n.850G>C
n.511G>C
12g.57765090C>TCA6658352CYP27B1n.623G>A
c.792G>A (p.Ala264=)
c.769G>A (p.Asp257Asn)
c.711G>A (p.Ala237=)
c.6G>A (p.Ala2=)
c.623G>A
n.850G>A
n.511G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765091G>ACA385505289CYP27B1n.622C>T
c.791C>T (p.Ala264Val)
c.768C>T (p.Gly256=)
c.710C>T (p.Ala237Val)
c.5C>T (p.Ala2Val)
c.622C>T
n.849C>T
n.510C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.57765091G>CCA385505290CYP27B1n.622C>G
c.791C>G (p.Ala264Gly)
c.768C>G (p.Gly256=)
c.710C>G (p.Ala237Gly)
c.5C>G (p.Ala2Gly)
c.622C>G
n.849C>G
n.510C>G
12g.57765091G=CA2038988704CYP27B1n.622C=
c.791C= (p.Ala264=)
c.768C= (p.Gly256=)
c.710C= (p.Ala237=)
c.5C= (p.Ala2=)
c.622C=
n.849C=
n.510C=
12g.57765091G>TCA385505288CYP27B1n.622C>A
c.791C>A (p.Ala264Glu)
c.768C>A (p.Gly256=)
c.710C>A (p.Ala237Glu)
c.5C>A (p.Ala2Glu)
c.622C>A
n.849C>A
n.510C>A
12g.57765092C>ACA385505291CYP27B1n.621G>T
c.790G>T (p.Ala264Ser)
c.767G>T (p.Gly256Val)
c.709G>T (p.Ala237Ser)
c.4G>T (p.Ala2Ser)
c.621G>T
n.848G>T
n.509G>T
12g.57765092C>GCA385505293CYP27B1n.621G>C
c.790G>C (p.Ala264Pro)
c.767G>C (p.Gly256Ala)
c.709G>C (p.Ala237Pro)
c.4G>C (p.Ala2Pro)
c.621G>C
n.848G>C
n.509G>C
12g.57765092C>TCA385505292CYP27B1n.621G>A
c.790G>A (p.Ala264Thr)
c.767G>A (p.Gly256Asp)
c.709G>A (p.Ala237Thr)
c.4G>A (p.Ala2Thr)
c.621G>A
n.848G>A
n.509G>A
12g.57765093C>ACA385505294CYP27B1n.620G>T
c.789G>T (p.Met263Ile)
c.766G>T (p.Gly256Cys)
c.708G>T (p.Met236Ile)
c.3G>T (p.Met1Ile)
c.620G>T
n.847G>T
n.508G>T
12g.57765093C=CA2038988709CYP27B1n.620G=
c.789G= (p.Met263=)
c.766G= (p.Gly256=)
c.708G= (p.Met236=)
c.3G= (p.Met1=)
c.620G=
n.847G=
n.508G=
12g.57765093C>GCA385505295CYP27B1n.620G>C
c.789G>C (p.Met263Ile)
c.766G>C (p.Gly256Arg)
c.708G>C (p.Met236Ile)
c.3G>C (p.Met1Ile)
c.620G>C
n.847G>C
n.508G>C
12g.57765093C>TCA237814822CYP27B1n.620G>A
c.789G>A (p.Met263Ile)
c.766G>A (p.Gly256Ser)
c.708G>A (p.Met236Ile)
c.3G>A (p.Met1Ile)
c.620G>A
n.847G>A
n.508G>A
 dbSNP
12g.57765094A=CA2038988712CYP27B1n.619T=
c.788T= (p.Met263=)
c.765T= (p.His255=)
c.707T= (p.Met236=)
c.2T= (p.Met1=)
c.619T=
n.846T=
n.507T=
12g.57765094A>CCA385505296CYP27B1n.619T>G
c.788T>G (p.Met263Arg)
c.765T>G (p.His255Gln)
c.707T>G (p.Met236Arg)
c.2T>G (p.Met1Arg)
c.619T>G
n.846T>G
n.507T>G
12g.57765094A>GCA385505297CYP27B1n.619T>C
c.788T>C (p.Met263Thr)
c.765T>C (p.His255=)
c.707T>C (p.Met236Thr)
c.2T>C (p.Met1Thr)
c.619T>C
n.846T>C
n.507T>C
 ClinVar dbSNP gnomAD v4
12g.57765094A>TCA385505298CYP27B1n.619T>A
c.788T>A (p.Met263Lys)
c.765T>A (p.His255Gln)
c.707T>A (p.Met236Lys)
c.2T>A (p.Met1Lys)
c.619T>A
n.846T>A
n.507T>A
12g.57765095T>ACA385505299CYP27B1n.618A>T
c.787A>T (p.Met263Leu)
c.764A>T (p.His255Leu)
c.706A>T (p.Met236Leu)
c.1A>T (p.Met1Leu)
c.618A>T
n.845A>T
n.506A>T
12g.57765095T>CCA6658353CYP27B1n.618A>G
c.787A>G (p.Met263Val)
c.764A>G (p.His255Arg)
c.706A>G (p.Met236Val)
c.1A>G (p.Met1Val)
c.618A>G
n.845A>G
n.506A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765095T>GCA237814850CYP27B1n.618A>C
c.787A>C (p.Met263Leu)
c.764A>C (p.His255Pro)
c.706A>C (p.Met236Leu)
c.1A>C (p.Met1Leu)
c.618A>C
n.845A>C
n.506A>C
 dbSNP
12g.57765095T=CA2038988715CYP27B1n.618A=
c.787A= (p.Met263=)
c.764A= (p.His255=)
c.706A= (p.Met236=)
c.1A= (p.Met1=)
c.618A=
n.845A=
n.506A=
12g.57765096G>ACA480402105CYP27B1n.617C>T
c.786C>T (p.Thr262=)
c.763C>T (p.His255Tyr)
c.705C>T (p.Thr235=)
c.-1C>T (n.-1C>T)
c.617C>T
n.844C>T
n.505C>T
 gnomAD v4
12g.57765096G>CCA480402107CYP27B1n.617C>G
c.786C>G (p.Thr262=)
c.763C>G (p.His255Asp)
c.705C>G (p.Thr235=)
c.-1C>G (n.-1C>G)
c.617C>G
n.844C>G
n.505C>G
12g.57765096G>TCA480402106CYP27B1n.617C>A
c.786C>A (p.Thr262=)
c.763C>A (p.His255Asn)
c.705C>A (p.Thr235=)
c.-1C>A (n.-1C>A)
c.617C>A
n.844C>A
n.505C>A
12g.57765097G>ACA385505300CYP27B1n.616C>T
c.785C>T (p.Thr262Ile)
c.762C>T (p.Asp254=)
c.704C>T (p.Thr235Ile)
c.-2C>T (n.-2C>T)
c.616C>T
n.843C>T
n.504C>T
12g.57765097G>CCA385505301CYP27B1n.616C>G
c.785C>G (p.Thr262Ser)
c.762C>G (p.Asp254Glu)
c.704C>G (p.Thr235Ser)
c.-2C>G (n.-2C>G)
c.616C>G
n.843C>G
n.504C>G
12g.57765097G=CA2038988722CYP27B1n.616C=
c.785C= (p.Thr262=)
c.762C= (p.Asp254=)
c.704C= (p.Thr235=)
c.-2C= (n.-2C=)
c.616C=
n.843C=
n.504C=
12g.57765097G>TCA6658354CYP27B1n.616C>A
c.785C>A (p.Thr262Asn)
c.762C>A (p.Asp254Glu)
c.704C>A (p.Thr235Asn)
c.-2C>A (n.-2C>A)
c.616C>A
n.843C>A
n.504C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765098T>ACA385505302CYP27B1n.615A>T
c.784A>T (p.Thr262Ser)
c.761A>T (p.Asp254Val)
c.703A>T (p.Thr235Ser)
c.-3A>T (n.-3A>T)
c.615A>T
n.842A>T
n.503A>T
 gnomAD v4
12g.57765098T>CCA385505304CYP27B1n.615A>G
c.784A>G (p.Thr262Ala)
c.761A>G (p.Asp254Gly)
c.703A>G (p.Thr235Ala)
c.-3A>G (n.-3A>G)
c.615A>G
n.842A>G
n.503A>G
12g.57765098T>GCA385505303CYP27B1n.615A>C
c.784A>C (p.Thr262Pro)
c.761A>C (p.Asp254Ala)
c.703A>C (p.Thr235Pro)
c.-3A>C (n.-3A>C)
c.615A>C
n.842A>C
n.503A>C
12g.57765099C>ACA385505305CYP27B1n.614G>T
c.783G>T (p.Leu261Phe)
c.760G>T (p.Asp254Tyr)
c.702G>T (p.Leu234Phe)
c.-4G>T (n.-4G>T)
c.614G>T
n.841G>T
n.502G>T
12g.57765099C>GCA385505306CYP27B1n.614G>C
c.783G>C (p.Leu261Phe)
c.760G>C (p.Asp254His)
c.702G>C (p.Leu234Phe)
c.-4G>C (n.-4G>C)
c.614G>C
n.841G>C
n.502G>C
12g.57765099C>TCA480402108CYP27B1n.614G>A
c.783G>A (p.Leu261=)
c.760G>A (p.Asp254Asn)
c.702G>A (p.Leu234=)
c.-4G>A (n.-4G>A)
c.614G>A
n.841G>A
n.502G>A
12g.57765101_57765103dupCA2619516797CYP27B1n.612_614dup
c.781_783dup (p.Leu261_Thr262insLeu)
c.758_760dup (p.Val253_Asp254insVal)
c.700_702dup (p.Leu234_Thr235insLeu)
c.-6_-4dup (n.-6_-4dup)
c.612_614dup
n.839_841dup
n.500_502dup
 gnomAD v4
12g.57765100A>CCA385505307CYP27B1n.613T>G
c.782T>G (p.Leu261Trp)
c.759T>G (p.Val253=)
c.701T>G (p.Leu234Trp)
c.-5T>G (n.-5T>G)
c.613T>G
n.840T>G
n.501T>G
12g.57765100A>GCA385505308CYP27B1n.613T>C
c.782T>C (p.Leu261Ser)
c.759T>C (p.Val253=)
c.701T>C (p.Leu234Ser)
c.-5T>C (n.-5T>C)
c.613T>C
n.840T>C
n.501T>C
12g.57765100A>TCA385505309CYP27B1n.613T>A
c.782T>A (p.Leu261Ter)
c.759T>A (p.Val253=)
c.701T>A (p.Leu234Ter)
c.-5T>A (n.-5T>A)
c.613T>A
n.840T>A
n.501T>A
12g.57765101A>CCA385505310CYP27B1n.612T>G
c.781T>G (p.Leu261Val)
c.758T>G (p.Val253Gly)
c.700T>G (p.Leu234Val)
c.-6T>G (n.-6T>G)
c.612T>G
n.839T>G
n.500T>G
12g.57765101A>GCA480402109CYP27B1n.612T>C
c.781T>C (p.Leu261=)
c.758T>C (p.Val253Ala)
c.700T>C (p.Leu234=)
c.-6T>C (n.-6T>C)
c.612T>C
n.839T>C
n.500T>C
12g.57765101A>TCA385505311CYP27B1n.612T>A
c.781T>A (p.Leu261Met)
c.758T>A (p.Val253Asp)
c.700T>A (p.Leu234Met)
c.-6T>A (n.-6T>A)
c.612T>A
n.839T>A
n.500T>A
12g.57765102C>ACA480402110CYP27B1n.611G>T
c.780G>T (p.Leu260=)
c.757G>T (p.Val253Phe)
c.699G>T (p.Leu233=)
c.-7G>T (n.-7G>T)
c.611G>T
n.838G>T
n.499G>T
 gnomAD v4
12g.57765102C=CA2038988726CYP27B1n.611G=
c.780G= (p.Leu260=)
c.757G= (p.Val253=)
c.699G= (p.Leu233=)
c.-7G= (n.-7G=)
c.611G=
n.838G=
n.499G=
12g.57765102C>GCA480402111CYP27B1n.611G>C
c.780G>C (p.Leu260=)
c.757G>C (p.Val253Leu)
c.699G>C (p.Leu233=)
c.-7G>C (n.-7G>C)
c.611G>C
n.838G>C
n.499G>C
12g.57765102C>TCA480402112CYP27B1n.611G>A
c.780G>A (p.Leu260=)
c.757G>A (p.Val253Ile)
c.699G>A (p.Leu233=)
c.-7G>A (n.-7G>A)
c.611G>A
n.838G>A
n.499G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57765103A>CCA385505312CYP27B1n.610T>G
c.779T>G (p.Leu260Arg)
c.756T>G (p.Ala252=)
c.698T>G (p.Leu233Arg)
c.-8T>G (n.-8T>G)
c.610T>G
n.837T>G
n.498T>G
12g.57765103A>GCA385505313CYP27B1n.610T>C
c.779T>C (p.Leu260Pro)
c.756T>C (p.Ala252=)
c.698T>C (p.Leu233Pro)
c.-8T>C (n.-8T>C)
c.610T>C
n.837T>C
n.498T>C
12g.57765103A>TCA385505314CYP27B1n.610T>A
c.779T>A (p.Leu260Gln)
c.756T>A (p.Ala252=)
c.698T>A (p.Leu233Gln)
c.-8T>A (n.-8T>A)
c.610T>A
n.837T>A
n.498T>A
12g.57765104G>ACA480402854CYP27B1n.609C>T
c.778C>T (p.Leu260=)
c.755C>T (p.Ala252Val)
c.697C>T (p.Leu233=)
c.-9C>T (n.-9C>T)
c.609C>T
n.836C>T
n.497C>T
12g.57765104G>CCA237814853CYP27B1n.609C>G
c.778C>G (p.Leu260Val)
c.755C>G (p.Ala252Gly)
c.697C>G (p.Leu233Val)
c.-9C>G (n.-9C>G)
c.609C>G
n.836C>G
n.497C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765104G=CA2038988732CYP27B1n.609C=
c.778C= (p.Leu260=)
c.755C= (p.Ala252=)
c.697C= (p.Leu233=)
c.-9C= (n.-9C=)
c.609C=
n.836C=
n.497C=
12g.57765104G>TCA385505315CYP27B1n.609C>A
c.778C>A (p.Leu260Met)
c.755C>A (p.Ala252Asp)
c.697C>A (p.Leu233Met)
c.-9C>A (n.-9C>A)
c.609C>A
n.836C>A
n.497C>A
12g.57765105C>ACA480402870CYP27B1n.608G>T
c.777G>T (p.Thr259=)
c.754G>T (p.Ala252Ser)
c.696G>T (p.Thr232=)
c.-10G>T (n.-10G>T)
c.608G>T
n.835G>T
n.496G>T
 dbSNP gnomAD v2 gnomAD v4
12g.57765105C=CA2038988735CYP27B1n.608G=
c.777G= (p.Thr259=)
c.754G= (p.Ala252=)
c.696G= (p.Thr232=)
c.-10G= (n.-10G=)
c.608G=
n.835G=
n.496G=
12g.57765105C>GCA480402866CYP27B1n.608G>C
c.777G>C (p.Thr259=)
c.754G>C (p.Ala252Pro)
c.696G>C (p.Thr232=)
c.-10G>C (n.-10G>C)
c.608G>C
n.835G>C
n.496G>C
12g.57765105C>TCA480402868CYP27B1n.608G>A
c.777G>A (p.Thr259=)
c.754G>A (p.Ala252Thr)
c.696G>A (p.Thr232=)
c.-10G>A (n.-10G>A)
c.608G>A
n.835G>A
n.496G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.57765106G>ACA385505316CYP27B1n.607C>T
c.776C>T (p.Thr259Met)
c.753C>T (p.His251=)
c.695C>T (p.Thr232Met)
c.-11C>T (n.-11C>T)
c.607C>T
n.834C>T
n.495C>T
 gnomAD v4
12g.57765106G>CCA385505317CYP27B1n.607C>G
c.776C>G (p.Thr259Arg)
c.753C>G (p.His251Gln)
c.695C>G (p.Thr232Arg)
c.-11C>G (n.-11C>G)
c.607C>G
n.834C>G
n.495C>G
12g.57765106G>TCA385505318CYP27B1n.607C>A
c.776C>A (p.Thr259Lys)
c.753C>A (p.His251Gln)
c.695C>A (p.Thr232Lys)
c.-11C>A (n.-11C>A)
c.607C>A
n.834C>A
n.495C>A
12g.57765107T>ACA385505319CYP27B1n.606A>T
c.775A>T (p.Thr259Ser)
c.752A>T (p.His251Leu)
c.694A>T (p.Thr232Ser)
c.-12A>T (n.-12A>T)
c.606A>T
n.833A>T
n.494A>T
12g.57765107T>CCA385505320CYP27B1n.606A>G
c.775A>G (p.Thr259Ala)
c.752A>G (p.His251Arg)
c.694A>G (p.Thr232Ala)
c.-12A>G (n.-12A>G)
c.606A>G
n.833A>G
n.494A>G
12g.57765107T>GCA385505321CYP27B1n.606A>C
c.775A>C (p.Thr259Pro)
c.752A>C (p.His251Pro)
c.694A>C (p.Thr232Pro)
c.-12A>C (n.-12A>C)
c.606A>C
n.833A>C
n.494A>C
12g.57765107_57765108delinsTGCA2038988737CYP27B1n.605_606delinsCA
c.774_775delinsCA (p.Ser258=)
c.751_752delinsCA (p.His251=)
c.693_694delinsCA (p.Ser231=)
c.-13_-12delinsCA (n.-13_-12delinsCA)
c.605_606delinsCA
n.832_833delinsCA
n.493_494delinsCA
12g.57765108G>ACA480402889CYP27B1n.605C>T
c.774C>T (p.Ser258=)
c.751C>T (p.His251Tyr)
c.693C>T (p.Ser231=)
c.-13C>T (n.-13C>T)
c.605C>T
n.832C>T
n.493C>T
12g.57765108G>CCA480402891CYP27B1n.605C>G
c.774C>G (p.Ser258=)
c.751C>G (p.His251Asp)
c.693C>G (p.Ser231=)
c.-13C>G (n.-13C>G)
c.605C>G
n.832C>G
n.493C>G
12g.57765108G>TCA480402896CYP27B1n.605C>A
c.774C>A (p.Ser258=)
c.751C>A (p.His251Asn)
c.693C>A (p.Ser231=)
c.-13C>A (n.-13C>A)
c.605C>A
n.832C>A
n.493C>A
12g.57765109delCA115129CYP27B1n.605del
c.774del (p.Thr259ArgfsTer3)
c.751del (p.His251ThrfsTer?)
c.693del (p.Thr232ArgfsTer3)
c.-13del (n.-13del)
c.605del
n.832del
n.493del
 ClinVar dbSNP
12g.57765109G>ACA385505324CYP27B1n.604C>T
c.773C>T (p.Ser258Phe)
c.750C>T (p.Val250=)
c.692C>T (p.Ser231Phe)
c.-14C>T (n.-14C>T)
c.604C>T
n.831C>T
n.492C>T
 dbSNP gnomAD v2
12g.57765109G>CCA385505322CYP27B1n.604C>G
c.773C>G (p.Ser258Cys)
c.750C>G (p.Val250=)
c.692C>G (p.Ser231Cys)
c.-14C>G (n.-14C>G)
c.604C>G
n.831C>G
n.492C>G
 gnomAD v4
12g.57765109G=CA2038988746CYP27B1n.604C=
c.773C= (p.Ser258=)
c.750C= (p.Val250=)
c.692C= (p.Ser231=)
c.-14C= (n.-14C=)
c.604C=
n.831C=
n.492C=
12g.57765109G>TCA385505323CYP27B1n.604C>A
c.773C>A (p.Ser258Tyr)
c.750C>A (p.Val250=)
c.692C>A (p.Ser231Tyr)
c.-14C>A (n.-14C>A)
c.604C>A
n.831C>A
n.492C>A
12g.57765110A>CCA385505325CYP27B1n.603T>G
c.772T>G (p.Ser258Ala)
c.749T>G (p.Val250Gly)
c.691T>G (p.Ser231Ala)
c.-15T>G (n.-15T>G)
c.603T>G
n.830T>G
n.491T>G
12g.57765110A>GCA385505326CYP27B1n.603T>C
c.772T>C (p.Ser258Pro)
c.749T>C (p.Val250Ala)
c.691T>C (p.Ser231Pro)
c.-15T>C (n.-15T>C)
c.603T>C
n.830T>C
n.491T>C
12g.57765110A>TCA385505327CYP27B1n.603T>A
c.772T>A (p.Ser258Thr)
c.749T>A (p.Val250Asp)
c.691T>A (p.Ser231Thr)
c.-15T>A (n.-15T>A)
c.603T>A
n.830T>A
n.491T>A
12g.57765111C>ACA480402929CYP27B1n.602G>T
c.771G>T (p.Val257=)
c.748G>T (p.Val250Phe)
c.690G>T (p.Val230=)
c.-16G>T (n.-16G>T)
c.602G>T
n.829G>T
n.490G>T
12g.57765111C=CA2038988751CYP27B1n.602G=
c.771G= (p.Val257=)
c.748G= (p.Val250=)
c.690G= (p.Val230=)
c.-16G= (n.-16G=)
c.602G=
n.829G=
n.490G=
12g.57765111C>GCA480402927CYP27B1n.602G>C
c.771G>C (p.Val257=)
c.748G>C (p.Val250Leu)
c.690G>C (p.Val230=)
c.-16G>C (n.-16G>C)
c.602G>C
n.829G>C
n.490G>C
12g.57765111C>TCA6658355CYP27B1n.602G>A
c.771G>A (p.Val257=)
c.748G>A (p.Val250Ile)
c.690G>A (p.Val230=)
c.-16G>A (n.-16G>A)
c.602G>A
n.829G>A
n.490G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57765112A=CA2038988761CYP27B1n.601T=
c.770T= (p.Val257=)
c.747T= (p.Cys249=)
c.689T= (p.Val230=)
c.-17T= (n.-17T=)
c.601T=
n.828T=
n.489T=
12g.57765112A>CCA385505328CYP27B1n.601T>G
c.770T>G (p.Val257Gly)
c.747T>G (p.Cys249Trp)
c.689T>G (p.Val230Gly)
c.-17T>G (n.-17T>G)
c.601T>G
n.828T>G
n.489T>G
12g.57765112A>GCA385505330CYP27B1n.601T>C
c.770T>C (p.Val257Ala)
c.747T>C (p.Cys249=)
c.689T>C (p.Val230Ala)
c.-17T>C (n.-17T>C)
c.601T>C
n.828T>C
n.489T>C
 dbSNP gnomAD v3 gnomAD v4
12g.57765112A>TCA385505329CYP27B1n.601T>A
c.770T>A (p.Val257Glu)
c.747T>A (p.Cys249Ter)
c.689T>A (p.Val230Glu)
c.-17T>A (n.-17T>A)
c.601T>A
n.828T>A
n.489T>A
12g.57765113C>ACA385505331CYP27B1n.600G>T
c.769G>T (p.Val257Leu)
c.746G>T (p.Cys249Phe)
c.688G>T (p.Val230Leu)
c.-18G>T (n.-18G>T)
c.600G>T
n.827G>T
n.488G>T
 gnomAD v4
12g.57765113C=CA2038988771CYP27B1n.600G=
c.769G= (p.Val257=)
c.746G= (p.Cys249=)
c.688G= (p.Val230=)
c.-18G= (n.-18G=)
c.600G=
n.827G=
n.488G=
12g.57765113C>GCA385505332CYP27B1n.600G>C
c.769G>C (p.Val257Leu)
c.746G>C (p.Cys249Ser)
c.688G>C (p.Val230Leu)
c.-18G>C (n.-18G>C)
c.600G>C
n.827G>C
n.488G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765113C>TCA385505333CYP27B1n.600G>A
c.769G>A (p.Val257Met)
c.746G>A (p.Cys249Tyr)
c.688G>A (p.Val230Met)
c.-18G>A (n.-18G>A)
c.600G>A
n.827G>A
n.488G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57765114A>CCA385505334CYP27B1n.599T>G
c.768T>G (p.Phe256Leu)
c.745T>G (p.Cys249Gly)
c.687T>G (p.Phe229Leu)
c.-19T>G (n.-19T>G)
c.599T>G
n.826T>G
n.487T>G
12g.57765114A>GCA480402948CYP27B1n.599T>C
c.768T>C (p.Phe256=)
c.745T>C (p.Cys249Arg)
c.687T>C (p.Phe229=)
c.-19T>C (n.-19T>C)
c.599T>C
n.826T>C
n.487T>C
12g.57765114A>TCA385505335CYP27B1n.599T>A
c.768T>A (p.Phe256Leu)
c.745T>A (p.Cys249Ser)
c.687T>A (p.Phe229Leu)
c.-19T>A (n.-19T>A)
c.599T>A
n.826T>A
n.487T>A
12g.57765115A>CCA385505336CYP27B1n.598T>G
c.767T>G (p.Phe256Cys)
c.744T>G (p.Val248=)
c.686T>G (p.Phe229Cys)
c.-20T>G (n.-20T>G)
c.598T>G
n.825T>G
n.486T>G
 gnomAD v4
12g.57765115A>GCA385505337CYP27B1n.598T>C
c.767T>C (p.Phe256Ser)
c.744T>C (p.Val248=)
c.686T>C (p.Phe229Ser)
c.-20T>C (n.-20T>C)
c.598T>C
n.825T>C
n.486T>C
12g.57765115A>TCA385505338CYP27B1n.598T>A
c.767T>A (p.Phe256Tyr)
c.744T>A (p.Val248=)
c.686T>A (p.Phe229Tyr)
c.-20T>A (n.-20T>A)
c.598T>A
n.825T>A
n.486T>A
12g.57765115_57765131delCA645584541CYP27B1n.582_598del
c.751_767del (p.Ala251CysfsTer?)
c.728_744del (p.Arg243LeufsTer6)
c.670_686del (p.Ala224CysfsTer?)
c.-36_-20del (n.-36_-20del)
c.582_598del
n.809_825del
n.470_486del
 COSMIC
12g.57765116A>CCA385505339CYP27B1n.597T>G
c.766T>G (p.Phe256Val)
c.743T>G (p.Val248Gly)
c.685T>G (p.Phe229Val)
c.-21T>G (n.-21T>G)
c.597T>G
n.824T>G
n.485T>G
12g.57765116A>GCA385505340CYP27B1n.597T>C
c.766T>C (p.Phe256Leu)
c.743T>C (p.Val248Ala)
c.685T>C (p.Phe229Leu)
c.-21T>C (n.-21T>C)
c.597T>C
n.824T>C
n.485T>C
12g.57765116A>TCA385505341CYP27B1n.597T>A
c.766T>A (p.Phe256Ile)
c.743T>A (p.Val248Asp)
c.685T>A (p.Phe229Ile)
c.-21T>A (n.-21T>A)
c.597T>A
n.824T>A
n.485T>A
12g.57765117C>ACA480402967CYP27B1n.596G>T
c.765G>T (p.Val255=)
c.742G>T (p.Val248Phe)
c.684G>T (p.Val228=)
c.-22G>T (n.-22G>T)
c.596G>T
n.823G>T
n.484G>T
12g.57765117C>GCA480402972CYP27B1n.596G>C
c.765G>C (p.Val255=)
c.742G>C (p.Val248Leu)
c.684G>C (p.Val228=)
c.-22G>C (n.-22G>C)
c.596G>C
n.823G>C
n.484G>C
12g.57765117C>TCA480402970CYP27B1n.596G>A
c.765G>A (p.Val255=)
c.742G>A (p.Val248Ile)
c.684G>A (p.Val228=)
c.-22G>A (n.-22G>A)
c.596G>A
n.823G>A
n.484G>A
12g.57765118A>CCA385505344CYP27B1n.595T>G
c.764T>G (p.Val255Gly)
c.741T>G (p.Gly247=)
c.683T>G (p.Val228Gly)
c.-23T>G (n.-23T>G)
c.595T>G
n.822T>G
n.483T>G
12g.57765118A>GCA385505343CYP27B1n.595T>C
c.764T>C (p.Val255Ala)
c.741T>C (p.Gly247=)
c.683T>C (p.Val228Ala)
c.-23T>C (n.-23T>C)
c.595T>C
n.822T>C
n.483T>C
12g.57765118A>TCA385505342CYP27B1n.595T>A
c.764T>A (p.Val255Glu)
c.741T>A (p.Gly247=)
c.683T>A (p.Val228Glu)
c.-23T>A (n.-23T>A)
c.595T>A
n.822T>A
n.483T>A
12g.57765119C>ACA385505345CYP27B1n.594G>T
c.763G>T (p.Val255Leu)
c.740G>T (p.Gly247Val)
c.682G>T (p.Val228Leu)
c.-24G>T (n.-24G>T)
c.594G>T
n.821G>T
n.482G>T
12g.57765119C=CA2038988776CYP27B1n.594G=
c.763G= (p.Val255=)
c.740G= (p.Gly247=)
c.682G= (p.Val228=)
c.-24G= (n.-24G=)
c.594G=
n.821G=
n.482G=
12g.57765119C>GCA385505347CYP27B1n.594G>C
c.763G>C (p.Val255Leu)
c.740G>C (p.Gly247Ala)
c.682G>C (p.Val228Leu)
c.-24G>C (n.-24G>C)
c.594G>C
n.821G>C
n.482G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765119C>TCA385505346CYP27B1n.594G>A
c.763G>A (p.Val255Met)
c.740G>A (p.Gly247Asp)
c.682G>A (p.Val228Met)
c.-24G>A (n.-24G>A)
c.594G>A
n.821G>A
n.482G>A
12g.57765120C>ACA480402983CYP27B1n.593G>T
c.762G>T (p.Ser254=)
c.739G>T (p.Gly247Cys)
c.681G>T (p.Ser227=)
c.-25G>T (n.-25G>T)
c.593G>T
n.820G>T
n.481G>T
12g.57765120C=CA2038988783CYP27B1n.593G=
c.762G= (p.Ser254=)
c.739G= (p.Gly247=)
c.681G= (p.Ser227=)
c.-25G= (n.-25G=)
c.593G=
n.820G=
n.481G=
12g.57765120C>GCA480402986CYP27B1n.593G>C
c.762G>C (p.Ser254=)
c.739G>C (p.Gly247Arg)
c.681G>C (p.Ser227=)
c.-25G>C (n.-25G>C)
c.593G>C
n.820G>C
n.481G>C
 gnomAD v4
12g.57765120C>TCA6658356CYP27B1n.593G>A
c.762G>A (p.Ser254=)
c.739G>A (p.Gly247Ser)
c.681G>A (p.Ser227=)
c.-25G>A (n.-25G>A)
c.593G>A
n.820G>A
n.481G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765121G>ACA385505350CYP27B1n.592C>T
c.761C>T (p.Ser254Leu)
c.738C>T (p.Leu246=)
c.680C>T (p.Ser227Leu)
c.-26C>T (n.-26C>T)
c.592C>T
n.819C>T
n.480C>T
 gnomAD v4
12g.57765121G>CCA385505348CYP27B1n.592C>G
c.761C>G (p.Ser254Trp)
c.738C>G (p.Leu246=)
c.680C>G (p.Ser227Trp)
c.-26C>G (n.-26C>G)
c.592C>G
n.819C>G
n.480C>G
12g.57765121G>TCA385505349CYP27B1n.592C>A
c.761C>A (p.Ser254Ter)
c.738C>A (p.Leu246=)
c.680C>A (p.Ser227Ter)
c.-26C>A (n.-26C>A)
c.592C>A
n.819C>A
n.480C>A
12g.57765122A>CCA385505351CYP27B1n.591T>G
c.760T>G (p.Ser254Ala)
c.737T>G (p.Leu246Arg)
c.679T>G (p.Ser227Ala)
c.-27T>G (n.-27T>G)
c.591T>G
n.818T>G
n.479T>G
12g.57765122A>GCA385505352CYP27B1n.591T>C
c.760T>C (p.Ser254Pro)
c.737T>C (p.Leu246Pro)
c.679T>C (p.Ser227Pro)
c.-27T>C (n.-27T>C)
c.591T>C
n.818T>C
n.479T>C
12g.57765122A>TCA385505353CYP27B1n.591T>A
c.760T>A (p.Ser254Thr)
c.737T>A (p.Leu246His)
c.679T>A (p.Ser227Thr)
c.-27T>A (n.-27T>A)
c.591T>A
n.818T>A
n.479T>A
12g.57765123G>ACA6658357CYP27B1n.590C>T
c.759C>T (p.Gly253=)
c.736C>T (p.Leu246Phe)
c.678C>T (p.Gly226=)
c.-28C>T (n.-28C>T)
c.590C>T
n.817C>T
n.478C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765123G>CCA480403010CYP27B1n.590C>G
c.759C>G (p.Gly253=)
c.736C>G (p.Leu246Val)
c.678C>G (p.Gly226=)
c.-28C>G (n.-28C>G)
c.590C>G
n.817C>G
n.478C>G
12g.57765123G=CA2038988785CYP27B1n.590C=
c.759C= (p.Gly253=)
c.736C= (p.Leu246=)
c.678C= (p.Gly226=)
c.-28C= (n.-28C=)
c.590C=
n.817C=
n.478C=
12g.57765123G>TCA480403012CYP27B1n.590C>A
c.759C>A (p.Gly253=)
c.736C>A (p.Leu246Ile)
c.678C>A (p.Gly226=)
c.-28C>A (n.-28C>A)
c.590C>A
n.817C>A
n.478C>A
 ClinVar
12g.57765124C>ACA385505354CYP27B1n.589G>T
c.758G>T (p.Gly253Val)
c.735G>T (p.Gly245=)
c.677G>T (p.Gly226Val)
c.-29G>T (n.-29G>T)
c.589G>T
n.816G>T
n.477G>T
 dbSNP
12g.57765124C=CA2038988795CYP27B1n.589G=
c.758G= (p.Gly253=)
c.735G= (p.Gly245=)
c.677G= (p.Gly226=)
c.-29G= (n.-29G=)
c.589G=
n.816G=
n.477G=
12g.57765124C>GCA385505355CYP27B1n.589G>C
c.758G>C (p.Gly253Ala)
c.735G>C (p.Gly245=)
c.677G>C (p.Gly226Ala)
c.-29G>C (n.-29G>C)
c.589G>C
n.816G>C
n.477G>C
12g.57765124C>TCA385505356CYP27B1n.589G>A
c.758G>A (p.Gly253Asp)
c.735G>A (p.Gly245=)
c.677G>A (p.Gly226Asp)
c.-29G>A (n.-29G>A)
c.589G>A
n.816G>A
n.477G>A
12g.57765125C>ACA385505357CYP27B1n.588G>T
c.757G>T (p.Gly253Cys)
c.734G>T (p.Gly245Val)
c.676G>T (p.Gly226Cys)
c.-30G>T (n.-30G>T)
c.588G>T
n.815G>T
n.476G>T
12g.57765125C>GCA385505358CYP27B1n.588G>C
c.757G>C (p.Gly253Arg)
c.734G>C (p.Gly245Ala)
c.676G>C (p.Gly226Arg)
c.-30G>C (n.-30G>C)
c.588G>C
n.815G>C
n.476G>C
12g.57765125C>TCA385505359CYP27B1n.588G>A
c.757G>A (p.Gly253Ser)
c.734G>A (p.Gly245Glu)
c.676G>A (p.Gly226Ser)
c.-30G>A (n.-30G>A)
c.588G>A
n.815G>A
n.476G>A
12g.57765125_57765126insACA2796149712CYP27B1n.587_588insT
c.756_757insT (p.Gly253TrpfsTer?)
c.733_734insT (p.Gly245ValfsTer10)
c.675_676insT (p.Gly226TrpfsTer?)
c.-31_-30insT (n.-31_-30insT)
c.587_588insT
n.814_815insT
n.475_476insT
12g.57765125_57765126insAAACACACCCAACA2796149713CYP27B1n.587_588insTTGGGTGTGTTT
c.756_757insTTGGGTGTGTTT (p.Val252_Gly253insLeuGlyValPhe)
c.733_734insTTGGGTGTGTTT (p.Gly245delinsValGlyCysValTrp)
c.675_676insTTGGGTGTGTTT (p.Val225_Gly226insLeuGlyValPhe)
c.-31_-30insTTGGGTGTGTTT (n.-31_-30insTTGGGTGTGTTT)
c.587_588insTTGGGTGTGTTT
n.814_815insTTGGGTGTGTTT
n.475_476insTTGGGTGTGTTT
12g.57765126C>ACA480403030CYP27B1n.587G>T
c.756G>T (p.Val252=)
c.733G>T (p.Gly245Trp)
c.675G>T (p.Val225=)
c.-31G>T (n.-31G>T)
c.587G>T
n.814G>T
n.475G>T
12g.57765126C>GCA480403025CYP27B1n.587G>C
c.756G>C (p.Val252=)
c.733G>C (p.Gly245Arg)
c.675G>C (p.Val225=)
c.-31G>C (n.-31G>C)
c.587G>C
n.814G>C
n.475G>C
12g.57765126C>TCA480403027CYP27B1n.587G>A
c.756G>A (p.Val252=)
c.733G>A (p.Gly245Arg)
c.675G>A (p.Val225=)
c.-31G>A (n.-31G>A)
c.587G>A
n.814G>A
n.475G>A
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.57765126_57765127insCCGCA2796149714CYP27B1n.586_587insCGG
c.755_756insCGG (p.Val252_Gly253insGly)
c.732_733insCGG (p.Cys244_Gly245insArg)
c.674_675insCGG (p.Val225_Gly226insGly)
c.-32_-31insCGG (n.-32_-31insCGG)
c.586_587insCGG
n.813_814insCGG
n.474_475insCGG
12g.57765127A=CA2038988804CYP27B1n.586T=
c.755T= (p.Val252=)
c.732T= (p.Cys244=)
c.674T= (p.Val225=)
c.-32T= (n.-32T=)
c.586T=
n.813T=
n.474T=
12g.57765127A>CCA385505360CYP27B1n.586T>G
c.755T>G (p.Val252Gly)
c.732T>G (p.Cys244Trp)
c.674T>G (p.Val225Gly)
c.-32T>G (n.-32T>G)
c.586T>G
n.813T>G
n.474T>G
12g.57765127A>GCA237814876CYP27B1n.586T>C
c.755T>C (p.Val252Ala)
c.732T>C (p.Cys244=)
c.674T>C (p.Val225Ala)
c.-32T>C (n.-32T>C)
c.586T>C
n.813T>C
n.474T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765127A>TCA385505361CYP27B1n.586T>A
c.755T>A (p.Val252Glu)
c.732T>A (p.Cys244Ter)
c.674T>A (p.Val225Glu)
c.-32T>A (n.-32T>A)
c.586T>A
n.813T>A
n.474T>A
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.57765128C>ACA385505362CYP27B1n.585G>T
c.754G>T (p.Val252Leu)
c.731G>T (p.Cys244Phe)
c.673G>T (p.Val225Leu)
c.-33G>T (n.-33G>T)
c.585G>T
n.812G>T
n.473G>T
12g.57765128C=CA2038988815CYP27B1n.585G=
c.754G= (p.Val252=)
c.731G= (p.Cys244=)
c.673G= (p.Val225=)
c.-33G= (n.-33G=)
c.585G=
n.812G=
n.473G=
12g.57765128C>GCA385505363CYP27B1n.585G>C
c.754G>C (p.Val252Leu)
c.731G>C (p.Cys244Ser)
c.673G>C (p.Val225Leu)
c.-33G>C (n.-33G>C)
c.585G>C
n.812G>C
n.473G>C
12g.57765128C>TCA385505364CYP27B1n.585G>A
c.754G>A (p.Val252Met)
c.731G>A (p.Cys244Tyr)
c.673G>A (p.Val225Met)
c.-33G>A (n.-33G>A)
c.585G>A
n.812G>A
n.473G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57765129A=CA2038988819CYP27B1n.584T=
c.753T= (p.Ala251=)
c.730T= (p.Cys244=)
c.672T= (p.Ala224=)
c.-34T= (n.-34T=)
c.584T=
n.811T=
n.472T=
12g.57765129A>CCA480403044CYP27B1n.584T>G
c.753T>G (p.Ala251=)
c.730T>G (p.Cys244Gly)
c.672T>G (p.Ala224=)
c.-34T>G (n.-34T>G)
c.584T>G
n.811T>G
n.472T>G
 dbSNP
12g.57765129A>GCA480403045CYP27B1n.584T>C
c.753T>C (p.Ala251=)
c.730T>C (p.Cys244Arg)
c.672T>C (p.Ala224=)
c.-34T>C (n.-34T>C)
c.584T>C
n.811T>C
n.472T>C
 dbSNP
12g.57765129A>TCA480403048CYP27B1n.584T>A
c.753T>A (p.Ala251=)
c.730T>A (p.Cys244Ser)
c.672T>A (p.Ala224=)
c.-34T>A (n.-34T>A)
c.584T>A
n.811T>A
n.472T>A
12g.57765130G>ACA385505365CYP27B1n.583C>T
c.752C>T (p.Ala251Val)
c.729C>T (p.Arg243=)
c.671C>T (p.Ala224Val)
c.-35C>T (n.-35C>T)
c.583C>T
n.810C>T
n.471C>T
12g.57765130G>CCA385505366CYP27B1n.583C>G
c.752C>G (p.Ala251Gly)
c.729C>G (p.Arg243=)
c.671C>G (p.Ala224Gly)
c.-35C>G (n.-35C>G)
c.583C>G
n.810C>G
n.471C>G
12g.57765130G>TCA385505367CYP27B1n.583C>A
c.752C>A (p.Ala251Asp)
c.729C>A (p.Arg243=)
c.671C>A (p.Ala224Asp)
c.-35C>A (n.-35C>A)
c.583C>A
n.810C>A
n.471C>A
12g.57765130_57765132delCA2796149715CYP27B1n.581_583del
c.750_752del (p.Ala251del)
c.727_729del (p.Arg243del)
c.669_671del (p.Ala224del)
c.-37_-35del (n.-37_-35del)
c.581_583del
n.808_810del
n.469_471del
12g.57765131C>ACA6658358CYP27B1n.582G>T
c.751G>T (p.Ala251Ser)
c.728G>T (p.Arg243Leu)
c.670G>T (p.Ala224Ser)
c.-36G>T (n.-36G>T)
c.582G>T
n.809G>T
n.470G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765131C=CA2038988824CYP27B1n.582G=
c.751G= (p.Ala251=)
c.728G= (p.Arg243=)
c.670G= (p.Ala224=)
c.-36G= (n.-36G=)
c.582G=
n.809G=
n.470G=
12g.57765131C>GCA385505368CYP27B1n.582G>C
c.751G>C (p.Ala251Pro)
c.728G>C (p.Arg243Pro)
c.670G>C (p.Ala224Pro)
c.-36G>C (n.-36G>C)
c.582G>C
n.809G>C
n.470G>C
12g.57765131C>TCA385505369CYP27B1n.582G>A
c.751G>A (p.Ala251Thr)
c.728G>A (p.Arg243His)
c.670G>A (p.Ala224Thr)
c.-36G>A (n.-36G>A)
c.582G>A
n.809G>A
n.470G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765132G>ACA480403058CYP27B1n.581C>T
c.750C>T (p.Arg250=)
c.727C>T (p.Arg243Cys)
c.669C>T (p.Arg223=)
c.-37C>T (n.-37C>T)
c.581C>T
n.808C>T
n.469C>T
 ClinVar dbSNP gnomAD v2
12g.57765132G>CCA480403060CYP27B1n.581C>G
c.750C>G (p.Arg250=)
c.727C>G (p.Arg243Gly)
c.669C>G (p.Arg223=)
c.-37C>G (n.-37C>G)
c.581C>G
n.808C>G
n.469C>G
12g.57765132G=CA2038988829CYP27B1n.581C=
c.750C= (p.Arg250=)
c.727C= (p.Arg243=)
c.669C= (p.Arg223=)
c.-37C= (n.-37C=)
c.581C=
n.808C=
n.469C=
12g.57765132G>TCA6658359CYP27B1n.581C>A
c.750C>A (p.Arg250=)
c.727C>A (p.Arg243Ser)
c.669C>A (p.Arg223=)
c.-37C>A (n.-37C>A)
c.581C>A
n.808C>A
n.469C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765133C>ACA385505371CYP27B1n.580G>T
c.749G>T (p.Arg250Leu)
c.726G>T (p.Pro242=)
c.668G>T (p.Arg223Leu)
c.-38G>T (n.-38G>T)
c.580G>T
n.807G>T
n.468G>T
12g.57765133C>GCA385505372CYP27B1n.580G>C
c.749G>C (p.Arg250Pro)
c.726G>C (p.Pro242=)
c.668G>C (p.Arg223Pro)
c.-38G>C (n.-38G>C)
c.580G>C
n.807G>C
n.468G>C
12g.57765133C>TCA385505370CYP27B1n.580G>A
c.749G>A (p.Arg250His)
c.726G>A (p.Pro242=)
c.668G>A (p.Arg223His)
c.-38G>A (n.-38G>A)
c.580G>A
n.807G>A
n.468G>A
 gnomAD v4
12g.57765134G>ACA6658360CYP27B1n.579C>T
c.748C>T (p.Arg250Cys)
c.725C>T (p.Pro242Leu)
c.667C>T (p.Arg223Cys)
c.-39C>T (n.-39C>T)
c.579C>T
n.806C>T
n.467C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765134G>CCA385505373CYP27B1n.579C>G
c.748C>G (p.Arg250Gly)
c.725C>G (p.Pro242Arg)
c.667C>G (p.Arg223Gly)
c.-39C>G (n.-39C>G)
c.579C>G
n.806C>G
n.467C>G
12g.57765134G=CA2038988832CYP27B1n.579C=
c.748C= (p.Arg250=)
c.725C= (p.Pro242=)
c.667C= (p.Arg223=)
c.-39C= (n.-39C=)
c.579C=
n.806C=
n.467C=
12g.57765134G>TCA385505374CYP27B1n.579C>A
c.748C>A (p.Arg250Ser)
c.725C>A (p.Pro242Gln)
c.667C>A (p.Arg223Ser)
c.-39C>A (n.-39C>A)
c.579C>A
n.806C>A
n.467C>A
12g.57765135G>ACA237814892CYP27B1n.578C>T
c.747C>T (p.Ile249=)
c.724C>T (p.Pro242Ser)
c.666C>T (p.Ile222=)
c.-40C>T (n.-40C>T)
c.578C>T
n.805C>T
n.466C>T
 dbSNP
12g.57765135G>CCA385505375CYP27B1n.578C>G
c.747C>G (p.Ile249Met)
c.724C>G (p.Pro242Ala)
c.666C>G (p.Ile222Met)
c.-40C>G (n.-40C>G)
c.578C>G
n.805C>G
n.466C>G
12g.57765135G=CA2038988833CYP27B1n.578C=
c.747C= (p.Ile249=)
c.724C= (p.Pro242=)
c.666C= (p.Ile222=)
c.-40C= (n.-40C=)
c.578C=
n.805C=
n.466C=
12g.57765135G>TCA480403077CYP27B1n.578C>A
c.747C>A (p.Ile249=)
c.724C>A (p.Pro242Thr)
c.666C>A (p.Ile222=)
c.-40C>A (n.-40C>A)
c.578C>A
n.805C>A
n.466C>A
12g.57765136A>CCA385505376CYP27B1n.577T>G
c.746T>G (p.Ile249Ser)
c.723T>G (p.His241Gln)
c.665T>G (p.Ile222Ser)
c.-41T>G (n.-41T>G)
c.577T>G
n.804T>G
n.465T>G
12g.57765136A>GCA385505377CYP27B1n.577T>C
c.746T>C (p.Ile249Thr)
c.723T>C (p.His241=)
c.665T>C (p.Ile222Thr)
c.-41T>C (n.-41T>C)
c.577T>C
n.804T>C
n.465T>C
12g.57765136A>TCA385505378CYP27B1n.577T>A
c.746T>A (p.Ile249Asn)
c.723T>A (p.His241Gln)
c.665T>A (p.Ile222Asn)
c.-41T>A (n.-41T>A)
c.577T>A
n.804T>A
n.465T>A
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
12g.57765148G=CA2038988871CYP27B1n.565C=
c.734C= (p.Thr245=)
c.711C= (p.His237=)
c.653C= (p.Thr218=)
c.-53C= (n.-53C=)
c.565C=
n.792C=
n.453C=
12g.57765148G>TCA385505407CYP27B1n.565C>A
c.734C>A (p.Thr245Lys)
c.711C>A (p.His237Gln)
c.653C>A (p.Thr218Lys)
c.-53C>A (n.-53C>A)
c.565C>A
n.792C>A
n.453C>A
 dbSNP
12g.57765148_57765160delCA6658364CYP27B1n.553_565del
c.722_734del (p.Val241GlyfsTer17)
c.699_711del (p.Ser233ArgfsTer?)
c.641_653del (p.Val214GlyfsTer17)
c.-65_-53del (n.-65_-53del)
c.553_565del
n.780_792del
n.441_453del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765149T>ACA385505412CYP27B1n.564A>T
c.733A>T (p.Thr245Ser)
c.710A>T (p.His237Leu)
c.652A>T (p.Thr218Ser)
c.-54A>T (n.-54A>T)
c.564A>T
n.791A>T
n.452A>T
12g.57765149T>CCA385505410CYP27B1n.564A>G
c.733A>G (p.Thr245Ala)
c.710A>G (p.His237Arg)
c.652A>G (p.Thr218Ala)
c.-54A>G (n.-54A>G)
c.564A>G
n.791A>G
n.452A>G
12g.57765149T>GCA385505411CYP27B1n.564A>C
c.733A>C (p.Thr245Pro)
c.710A>C (p.His237Pro)
c.652A>C (p.Thr218Pro)
c.-54A>C (n.-54A>C)
c.564A>C
n.791A>C
n.452A>C
12g.57765150G>ACA480403149CYP27B1n.563C>T
c.732C>T (p.Asp244=)
c.709C>T (p.His237Tyr)
c.651C>T (p.Asp217=)
c.-55C>T (n.-55C>T)
c.563C>T
n.790C>T
n.451C>T
12g.57765150G>CCA385505415CYP27B1n.563C>G
c.732C>G (p.Asp244Glu)
c.709C>G (p.His237Asp)
c.651C>G (p.Asp217Glu)
c.-55C>G (n.-55C>G)
c.563C>G
n.790C>G
n.451C>G
12g.57765150G=CA2038988874CYP27B1n.563C=
c.732C= (p.Asp244=)
c.709C= (p.His237=)
c.651C= (p.Asp217=)
c.-55C= (n.-55C=)
c.563C=
n.790C=
n.451C=
12g.57765150G>TCA237814904CYP27B1n.563C>A
c.732C>A (p.Asp244Glu)
c.709C>A (p.His237Asn)
c.651C>A (p.Asp217Glu)
c.-55C>A (n.-55C>A)
c.563C>A
n.790C>A
n.451C>A
 ClinVar dbSNP gnomAD v4
12g.57765151T>ACA385505419CYP27B1n.562A>T
c.731A>T (p.Asp244Val)
c.708A>T (p.Arg236=)
c.650A>T (p.Asp217Val)
c.-56A>T (n.-56A>T)
c.562A>T
n.789A>T
n.450A>T
12g.57765151T>CCA385505420CYP27B1n.562A>G
c.731A>G (p.Asp244Gly)
c.708A>G (p.Arg236=)
c.650A>G (p.Asp217Gly)
c.-56A>G (n.-56A>G)
c.562A>G
n.789A>G
n.450A>G
12g.57765151T>GCA385505422CYP27B1n.562A>C
c.731A>C (p.Asp244Ala)
c.708A>C (p.Arg236=)
c.650A>C (p.Asp217Ala)
c.-56A>C (n.-56A>C)
c.562A>C
n.789A>C
n.450A>C
12g.57765152C>ACA385505425CYP27B1n.561G>T
c.730G>T (p.Asp244Tyr)
c.707G>T (p.Arg236Leu)
c.649G>T (p.Asp217Tyr)
c.-57G>T (n.-57G>T)
c.561G>T
n.788G>T
n.449G>T
12g.57765152C>GCA385505428CYP27B1n.561G>C
c.730G>C (p.Asp244His)
c.707G>C (p.Arg236Pro)
c.649G>C (p.Asp217His)
c.-57G>C (n.-57G>C)
c.561G>C
n.788G>C
n.449G>C
12g.57765152C>TCA385505427CYP27B1n.561G>A
c.730G>A (p.Asp244Asn)
c.707G>A (p.Arg236Gln)
c.649G>A (p.Asp217Asn)
c.-57G>A (n.-57G>A)
c.561G>A
n.788G>A
n.449G>A
12g.57765153G>ACA480403151CYP27B1n.560C>T
c.729C>T (p.Pro243=)
c.706C>T (p.Arg236Ter)
c.648C>T (p.Pro216=)
c.-58C>T (n.-58C>T)
c.560C>T
n.787C>T
n.448C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765153G>CCA480403155CYP27B1n.560C>G
c.729C>G (p.Pro243=)
c.706C>G (p.Arg236Gly)
c.648C>G (p.Pro216=)
c.-58C>G (n.-58C>G)
c.560C>G
n.787C>G
n.448C>G
 ClinVar
12g.57765153G=CA2038988882CYP27B1n.560C=
c.729C= (p.Pro243=)
c.706C= (p.Arg236=)
c.648C= (p.Pro216=)
c.-58C= (n.-58C=)
c.560C=
n.787C=
n.448C=
12g.57765153G>TCA480403153CYP27B1n.560C>A
c.729C>A (p.Pro243=)
c.706C>A (p.Arg236=)
c.648C>A (p.Pro216=)
c.-58C>A (n.-58C>A)
c.560C>A
n.787C>A
n.448C>A
12g.57765154G>ACA385505429CYP27B1n.559C>T
c.728C>T (p.Pro243Leu)
c.705C>T (p.Thr235=)
c.647C>T (p.Pro216Leu)
c.-59C>T (n.-59C>T)
c.559C>T
n.786C>T
n.447C>T
12g.57765154G>CCA385505430CYP27B1n.559C>G
c.728C>G (p.Pro243Arg)
c.705C>G (p.Thr235=)
c.647C>G (p.Pro216Arg)
c.-59C>G (n.-59C>G)
c.559C>G
n.786C>G
n.447C>G
12g.57765154G>TCA385505431CYP27B1n.559C>A
c.728C>A (p.Pro243His)
c.705C>A (p.Thr235=)
c.647C>A (p.Pro216His)
c.-59C>A (n.-59C>A)
c.559C>A
n.786C>A
n.447C>A
12g.57765154_57765159delinsGGTGGCCA2038988884CYP27B1n.554_559delinsGCCACC
c.723_728delinsGCCACC (p.Val241=)
c.700_705delinsGCCACC (p.Ala234=)
c.642_647delinsGCCACC (p.Val214=)
c.-64_-59delinsGCCACC (n.-64_-59delinsGCCACC)
c.554_559delinsGCCACC
n.781_786delinsGCCACC
n.442_447delinsGCCACC
12g.57765155G>ACA385505432CYP27B1n.558C>T
c.727C>T (p.Pro243Ser)
c.704C>T (p.Thr235Ile)
c.646C>T (p.Pro216Ser)
c.-60C>T (n.-60C>T)
c.558C>T
n.785C>T
n.446C>T
 dbSNP gnomAD v2 gnomAD v4
12g.57765155G>CCA385505433CYP27B1n.558C>G
c.727C>G (p.Pro243Ala)
c.704C>G (p.Thr235Ser)
c.646C>G (p.Pro216Ala)
c.-60C>G (n.-60C>G)
c.558C>G
n.785C>G
n.446C>G
12g.57765155G=CA2038988888CYP27B1n.558C=
c.727C= (p.Pro243=)
c.704C= (p.Thr235=)
c.646C= (p.Pro216=)
c.-60C= (n.-60C=)
c.558C=
n.785C=
n.446C=
12g.57765155G>TCA385505435CYP27B1n.558C>A
c.727C>A (p.Pro243Thr)
c.704C>A (p.Thr235Asn)
c.646C>A (p.Pro216Thr)
c.-60C>A (n.-60C>A)
c.558C>A
n.785C>A
n.446C>A
12g.57765155_57765159delCA6658365CYP27B1n.554_558del
c.723_727del (p.Pro242ArgfsTer?)
c.700_704del (p.Ala234ProfsTer19)
c.642_646del (p.Pro215ArgfsTer?)
c.-64_-60del (n.-64_-60del)
c.554_558del
n.781_785del
n.442_446del
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765156T>ACA480403161CYP27B1n.557A>T
c.726A>T (p.Pro242=)
c.703A>T (p.Thr235Ser)
c.645A>T (p.Pro215=)
c.-61A>T (n.-61A>T)
c.557A>T
n.784A>T
n.445A>T
12g.57765156T>CCA237814911CYP27B1n.557A>G
c.726A>G (p.Pro242=)
c.703A>G (p.Thr235Ala)
c.645A>G (p.Pro215=)
c.-61A>G (n.-61A>G)
c.557A>G
n.784A>G
n.445A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57765156T>GCA480403165CYP27B1n.557A>C
c.726A>C (p.Pro242=)
c.703A>C (p.Thr235Pro)
c.645A>C (p.Pro215=)
c.-61A>C (n.-61A>C)
c.557A>C
n.784A>C
n.445A>C
12g.57765156T=CA2038988893CYP27B1n.557A=
c.726A= (p.Pro242=)
c.703A= (p.Thr235=)
c.645A= (p.Pro215=)
c.-61A= (n.-61A=)
c.557A=
n.784A=
n.445A=
12g.57765157G>ACA385505438CYP27B1n.556C>T
c.725C>T (p.Pro242Leu)
c.702C>T (p.Ala234=)
c.644C>T (p.Pro215Leu)
c.-62C>T (n.-62C>T)
c.556C>T
n.783C>T
n.444C>T
12g.57765157G>CCA385505440CYP27B1n.556C>G
c.725C>G (p.Pro242Arg)
c.702C>G (p.Ala234=)
c.644C>G (p.Pro215Arg)
c.-62C>G (n.-62C>G)
c.556C>G
n.783C>G
n.444C>G
12g.57765157G>TCA385505442CYP27B1n.556C>A
c.725C>A (p.Pro242Gln)
c.702C>A (p.Ala234=)
c.644C>A (p.Pro215Gln)
c.-62C>A (n.-62C>A)
c.556C>A
n.783C>A
n.444C>A
12g.57765158G>ACA385505448CYP27B1n.555C>T
c.724C>T (p.Pro242Ser)
c.701C>T (p.Ala234Val)
c.643C>T (p.Pro215Ser)
c.-63C>T (n.-63C>T)
c.555C>T
n.782C>T
n.443C>T
12g.57765158G>CCA385505446CYP27B1n.555C>G
c.724C>G (p.Pro242Ala)
c.701C>G (p.Ala234Gly)
c.643C>G (p.Pro215Ala)
c.-63C>G (n.-63C>G)
c.555C>G
n.782C>G
n.443C>G
12g.57765158G>TCA385505444CYP27B1n.555C>A
c.724C>A (p.Pro242Thr)
c.701C>A (p.Ala234Asp)
c.643C>A (p.Pro215Thr)
c.-63C>A (n.-63C>A)
c.555C>A
n.782C>A
n.443C>A
12g.57765159C>ACA480403168CYP27B1n.554G>T
c.723G>T (p.Val241=)
c.700G>T (p.Ala234Ser)
c.642G>T (p.Val214=)
c.-64G>T (n.-64G>T)
c.554G>T
n.781G>T
n.442G>T
12g.57765159C=CA2038988901CYP27B1n.554G=
c.723G= (p.Val241=)
c.700G= (p.Ala234=)
c.642G= (p.Val214=)
c.-64G= (n.-64G=)
c.554G=
n.781G=
n.442G=
12g.57765159C>GCA480403170CYP27B1n.554G>C
c.723G>C (p.Val241=)
c.700G>C (p.Ala234Pro)
c.642G>C (p.Val214=)
c.-64G>C (n.-64G>C)
c.554G>C
n.781G>C
n.442G>C
12g.57765159C>TCA480403171CYP27B1n.554G>A
c.723G>A (p.Val241=)
c.700G>A (p.Ala234Thr)
c.642G>A (p.Val214=)
c.-64G>A (n.-64G>A)
c.554G>A
n.781G>A
n.442G>A
 dbSNP gnomAD v2 gnomAD v4
12g.57765160A>CCA385505450CYP27B1n.553T>G
c.722T>G (p.Val241Gly)
c.699T>G (p.Ser233Arg)
c.641T>G (p.Val214Gly)
c.-65T>G (n.-65T>G)
c.553T>G
n.780T>G
n.441T>G
12g.57765160A>GCA385505452CYP27B1n.553T>C
c.722T>C (p.Val241Ala)
c.699T>C (p.Ser233=)
c.641T>C (p.Val214Ala)
c.-65T>C (n.-65T>C)
c.553T>C
n.780T>C
n.441T>C
12g.57765160A>TCA385505454CYP27B1n.553T>A
c.722T>A (p.Val241Glu)
c.699T>A (p.Ser233Arg)
c.641T>A (p.Val214Glu)
c.-65T>A (n.-65T>A)
c.553T>A
n.780T>A
n.441T>A
12g.57765161C>ACA385505456CYP27B1n.552G>T
c.721G>T (p.Val241Leu)
c.698G>T (p.Ser233Ile)
c.640G>T (p.Val214Leu)
c.-66G>T (n.-66G>T)
c.552G>T
n.779G>T
n.440G>T
12g.57765161C=CA2038988907CYP27B1n.552G=
c.721G= (p.Val241=)
c.698G= (p.Ser233=)
c.640G= (p.Val214=)
c.-66G= (n.-66G=)
c.552G=
n.779G=
n.440G=
12g.57765161C>GCA385505458CYP27B1n.552G>C
c.721G>C (p.Val241Leu)
c.698G>C (p.Ser233Thr)
c.640G>C (p.Val214Leu)
c.-66G>C (n.-66G>C)
c.552G>C
n.779G>C
n.440G>C
 dbSNP
12g.57765161C>TCA385505459CYP27B1n.552G>A
c.721G>A (p.Val241Met)
c.698G>A (p.Ser233Asn)
c.640G>A (p.Val214Met)
c.-66G>A (n.-66G>A)
c.552G>A
n.779G>A
n.440G>A
12g.57765162T>ACA385505464CYP27B1n.551A>T
c.720A>T (p.Gln240His)
c.697A>T (p.Ser233Cys)
c.639A>T (p.Gln213His)
c.-67A>T (n.-67A>T)
c.551A>T
n.778A>T
n.439A>T
12g.57765162T>CCA480403175CYP27B1n.551A>G
c.720A>G (p.Gln240=)
c.697A>G (p.Ser233Gly)
c.639A>G (p.Gln213=)
c.-67A>G (n.-67A>G)
c.551A>G
n.778A>G
n.439A>G
12g.57765162T>GCA385505462CYP27B1n.551A>C
c.720A>C (p.Gln240His)
c.697A>C (p.Ser233Arg)
c.639A>C (p.Gln213His)
c.-67A>C (n.-67A>C)
c.551A>C
n.778A>C
n.439A>C
12g.57765162_57765220delinsTTGAGCCTCCAGGCAGCCCAAGCGCGAGCCGAGCAGAACCGCGGCGATGCCTTGTCGGGCA2038988908CYP27B1n.502-9_551delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
c.671-9_720delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
c.648-9_697delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
c.590-9_639delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
c.-116-9_-67delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
c.502-9_551delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
n.720_778delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
n.390-9_439delinsCCCGACAAGGCATCGCCGCGGTTCTGCTCGGCTCGCGCTTGGGCTGCCTGGAGGCTCAA
12g.57765163T>ACA385505467CYP27B1n.550A>T
c.719A>T (p.Gln240Leu)
c.696A>T (p.Ser232=)
c.638A>T (p.Gln213Leu)
c.-68A>T (n.-68A>T)
c.550A>T
n.777A>T
n.438A>T
12g.57765163T>CCA385505469CYP27B1n.550A>G
c.719A>G (p.Gln240Arg)
c.696A>G (p.Ser232=)
c.638A>G (p.Gln213Arg)
c.-68A>G (n.-68A>G)
c.550A>G
n.777A>G
n.438A>G
12g.57765163T>GCA385505470CYP27B1n.550A>C
c.719A>C (p.Gln240Pro)
c.696A>C (p.Ser232=)
c.638A>C (p.Gln213Pro)
c.-68A>C (n.-68A>C)
c.550A>C
n.777A>C
n.438A>C
12g.57765163_57765220delCA6658366CYP27B1n.502-9_550del
c.671-9_719del
c.648-9_696del
c.590-9_638del
c.-116-9_-68del
c.502-9_550del
n.720_777del
n.390-9_438del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765164G>ACA385505473CYP27B1n.549C>T
c.718C>T (p.Gln240Ter)
c.695C>T (p.Ser232Leu)
c.637C>T (p.Gln213Ter)
c.-69C>T (n.-69C>T)
c.549C>T
n.776C>T
n.437C>T
 ClinVar gnomAD v4
12g.57765164G>CCA385505474CYP27B1n.549C>G
c.718C>G (p.Gln240Glu)
c.695C>G (p.Ser232Ter)
c.637C>G (p.Gln213Glu)
c.-69C>G (n.-69C>G)
c.549C>G
n.776C>G
n.437C>G
12g.57765164G>TCA385505475CYP27B1n.549C>A
c.718C>A (p.Gln240Lys)
c.695C>A (p.Ser232Ter)
c.637C>A (p.Gln213Lys)
c.-69C>A (n.-69C>A)
c.549C>A
n.776C>A
n.437C>A
12g.57765165A>CCA480403180CYP27B1n.548T>G
c.717T>G (p.Ala239=)
c.694T>G (p.Ser232Ala)
c.636T>G (p.Ala212=)
c.-70T>G (n.-70T>G)
c.548T>G
n.775T>G
n.436T>G
12g.57765165A>GCA480403181CYP27B1n.548T>C
c.717T>C (p.Ala239=)
c.694T>C (p.Ser232Pro)
c.636T>C (p.Ala212=)
c.-70T>C (n.-70T>C)
c.548T>C
n.775T>C
n.436T>C
12g.57765165A>TCA480403182CYP27B1n.548T>A
c.717T>A (p.Ala239=)
c.694T>A (p.Ser232Thr)
c.636T>A (p.Ala212=)
c.-70T>A (n.-70T>A)
c.548T>A
n.775T>A
n.436T>A
12g.57765166G>ACA385505477CYP27B1n.547C>T
c.716C>T (p.Ala239Val)
c.693C>T (p.Gly231=)
c.635C>T (p.Ala212Val)
c.-71C>T (n.-71C>T)
c.547C>T
n.774C>T
n.435C>T
 dbSNP gnomAD v4
12g.57765166G>CCA385505480CYP27B1n.547C>G
c.716C>G (p.Ala239Gly)
c.693C>G (p.Gly231=)
c.635C>G (p.Ala212Gly)
c.-71C>G (n.-71C>G)
c.547C>G
n.774C>G
n.435C>G
12g.57765166G=CA2038988915CYP27B1n.547C=
c.716C= (p.Ala239=)
c.693C= (p.Gly231=)
c.635C= (p.Ala212=)
c.-71C= (n.-71C=)
c.547C=
n.774C=
n.435C=
12g.57765166G>TCA385505479CYP27B1n.547C>A
c.716C>A (p.Ala239Asp)
c.693C>A (p.Gly231=)
c.635C>A (p.Ala212Asp)
c.-71C>A (n.-71C>A)
c.547C>A
n.774C>A
n.435C>A
12g.57765167C>ACA385505482CYP27B1n.546G>T
c.715G>T (p.Ala239Ser)
c.692G>T (p.Gly231Val)
c.634G>T (p.Ala212Ser)
c.-72G>T (n.-72G>T)
c.546G>T
n.773G>T
n.434G>T
12g.57765167C>GCA385505484CYP27B1n.546G>C
c.715G>C (p.Ala239Pro)
c.692G>C (p.Gly231Ala)
c.634G>C (p.Ala212Pro)
c.-72G>C (n.-72G>C)
c.546G>C
n.773G>C
n.434G>C
12g.57765167C>TCA385505485CYP27B1n.546G>A
c.715G>A (p.Ala239Thr)
c.692G>A (p.Gly231Asp)
c.634G>A (p.Ala212Thr)
c.-72G>A (n.-72G>A)
c.546G>A
n.773G>A
n.434G>A
12g.57765168C>ACA385505487CYP27B1n.545G>T
c.714G>T (p.Glu238Asp)
c.691G>T (p.Gly231Cys)
c.633G>T (p.Glu211Asp)
c.-73G>T (n.-73G>T)
c.545G>T
n.772G>T
n.433G>T
12g.57765168C>GCA385505489CYP27B1n.545G>C
c.714G>C (p.Glu238Asp)
c.691G>C (p.Gly231Arg)
c.633G>C (p.Glu211Asp)
c.-73G>C (n.-73G>C)
c.545G>C
n.772G>C
n.433G>C
12g.57765168C>TCA480403186CYP27B1n.545G>A
c.714G>A (p.Glu238=)
c.691G>A (p.Gly231Ser)
c.633G>A (p.Glu211=)
c.-73G>A (n.-73G>A)
c.545G>A
n.772G>A
n.433G>A
12g.57765169T>ACA385505492CYP27B1n.544A>T
c.713A>T (p.Glu238Val)
c.690A>T (p.Gly230=)
c.632A>T (p.Glu211Val)
c.-74A>T (n.-74A>T)
c.544A>T
n.771A>T
n.432A>T
12g.57765169T>CCA385505493CYP27B1n.544A>G
c.713A>G (p.Glu238Gly)
c.690A>G (p.Gly230=)
c.632A>G (p.Glu211Gly)
c.-74A>G (n.-74A>G)
c.544A>G
n.771A>G
n.432A>G
12g.57765169T>GCA385505494CYP27B1n.544A>C
c.713A>C (p.Glu238Ala)
c.690A>C (p.Gly230=)
c.632A>C (p.Glu211Ala)
c.-74A>C (n.-74A>C)
c.544A>C
n.771A>C
n.432A>C
12g.57765169_57765170delinsTCCA2038988919CYP27B1n.543_544delinsGA
c.712_713delinsGA (p.Glu238=)
c.689_690delinsGA (p.Gly230=)
c.631_632delinsGA (p.Glu211=)
c.-75_-74delinsGA (n.-75_-74delinsGA)
c.543_544delinsGA
n.770_771delinsGA
n.431_432delinsGA
12g.57765170C>ACA385505496CYP27B1n.543G>T
c.712G>T (p.Glu238Ter)
c.689G>T (p.Gly230Val)
c.631G>T (p.Glu211Ter)
c.-75G>T (n.-75G>T)
c.543G>T
n.770G>T
n.431G>T
 COSMIC
12g.57765170C>GCA385505497CYP27B1n.543G>C
c.712G>C (p.Glu238Gln)
c.689G>C (p.Gly230Ala)
c.631G>C (p.Glu211Gln)
c.-75G>C (n.-75G>C)
c.543G>C
n.770G>C
n.431G>C
12g.57765170C>TCA385505498CYP27B1n.543G>A
c.712G>A (p.Glu238Lys)
c.689G>A (p.Gly230Glu)
c.631G>A (p.Glu211Lys)
c.-75G>A (n.-75G>A)
c.543G>A
n.770G>A
n.431G>A
12g.57765171delCA115128CYP27B1n.543del
c.712del (p.Glu238ArgfsTer24)
c.689del (p.Gly230GlufsTer?)
c.631del (p.Glu211ArgfsTer24)
c.-75del (n.-75del)
c.543del
n.770del
n.431del
 ClinVar dbSNP
12g.57765171C>ACA480403190CYP27B1n.542G>T
c.711G>T (p.Leu237=)
c.688G>T (p.Gly230Ter)
c.630G>T (p.Leu210=)
c.-76G>T (n.-76G>T)
c.542G>T
n.769G>T
n.430G>T
12g.57765171C>GCA480403191CYP27B1n.542G>C
c.711G>C (p.Leu237=)
c.688G>C (p.Gly230Arg)
c.630G>C (p.Leu210=)
c.-76G>C (n.-76G>C)
c.542G>C
n.769G>C
n.430G>C
12g.57765171C>TCA480403192CYP27B1n.542G>A
c.711G>A (p.Leu237=)
c.688G>A (p.Gly230Arg)
c.630G>A (p.Leu210=)
c.-76G>A (n.-76G>A)
c.542G>A
n.769G>A
n.430G>A
12g.57765172A>CCA385505504CYP27B1n.541T>G
c.710T>G (p.Leu237Arg)
c.687T>G (p.Pro229=)
c.629T>G (p.Leu210Arg)
c.-77T>G (n.-77T>G)
c.541T>G
n.768T>G
n.429T>G
 gnomAD v4 COSMIC
12g.57765172A>GCA385505506CYP27B1n.541T>C
c.710T>C (p.Leu237Pro)
c.687T>C (p.Pro229=)
c.629T>C (p.Leu210Pro)
c.-77T>C (n.-77T>C)
c.541T>C
n.768T>C
n.429T>C
12g.57765172A>TCA385505502CYP27B1n.541T>A
c.710T>A (p.Leu237Gln)
c.687T>A (p.Pro229=)
c.629T>A (p.Leu210Gln)
c.-77T>A (n.-77T>A)
c.541T>A
n.768T>A
n.429T>A
12g.57765173G>ACA237814914CYP27B1n.540C>T
c.709C>T (p.Leu237=)
c.686C>T (p.Pro229Leu)
c.628C>T (p.Leu210=)
c.-78C>T (n.-78C>T)
c.540C>T
n.767C>T
n.428C>T
 ClinVar dbSNP
12g.57765173G>CCA385505510CYP27B1n.540C>G
c.709C>G (p.Leu237Val)
c.686C>G (p.Pro229Arg)
c.628C>G (p.Leu210Val)
c.-78C>G (n.-78C>G)
c.540C>G
n.767C>G
n.428C>G
12g.57765173G=CA2038988924CYP27B1n.540C=
c.709C= (p.Leu237=)
c.686C= (p.Pro229=)
c.628C= (p.Leu210=)
c.-78C= (n.-78C=)
c.540C=
n.767C=
n.428C=
12g.57765173G>TCA385505508CYP27B1n.540C>A
c.709C>A (p.Leu237Met)
c.686C>A (p.Pro229His)
c.628C>A (p.Leu210Met)
c.-78C>A (n.-78C>A)
c.540C>A
n.767C>A
n.428C>A
 ClinVar
12g.57765174G>ACA6658367CYP27B1n.539C>T
c.708C>T (p.Cys236=)
c.685C>T (p.Pro229Ser)
c.627C>T (p.Cys209=)
c.-79C>T (n.-79C>T)
c.539C>T
n.766C>T
n.427C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765174G>CCA385505513CYP27B1n.539C>G
c.708C>G (p.Cys236Trp)
c.685C>G (p.Pro229Ala)
c.627C>G (p.Cys209Trp)
c.-79C>G (n.-79C>G)
c.539C>G
n.766C>G
n.427C>G
12g.57765174G=CA2038988928CYP27B1n.539C=
c.708C= (p.Cys236=)
c.685C= (p.Pro229=)
c.627C= (p.Cys209=)
c.-79C= (n.-79C=)
c.539C=
n.766C=
n.427C=
12g.57765174G>TCA385505515CYP27B1n.539C>A
c.708C>A (p.Cys236Ter)
c.685C>A (p.Pro229Thr)
c.627C>A (p.Cys209Ter)
c.-79C>A (n.-79C>A)
c.539C>A
n.766C>A
n.427C>A
12g.57765175C>ACA385505518CYP27B1n.538G>T
c.707G>T (p.Cys236Phe)
c.684G>T (p.Leu228=)
c.626G>T (p.Cys209Phe)
c.-80G>T (n.-80G>T)
c.538G>T
n.765G>T
n.426G>T
12g.57765175C=CA2038988937CYP27B1n.538G=
c.707G= (p.Cys236=)
c.684G= (p.Leu228=)
c.626G= (p.Cys209=)
c.-80G= (n.-80G=)
c.538G=
n.765G=
n.426G=
12g.57765175C>GCA6658368CYP27B1n.538G>C
c.707G>C (p.Cys236Ser)
c.684G>C (p.Leu228=)
c.626G>C (p.Cys209Ser)
c.-80G>C (n.-80G>C)
c.538G>C
n.765G>C
n.426G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57765175C>TCA385505521CYP27B1n.538G>A
c.707G>A (p.Cys236Tyr)
c.684G>A (p.Leu228=)
c.626G>A (p.Cys209Tyr)
c.-80G>A (n.-80G>A)
c.538G>A
n.765G>A
n.426G>A
12g.57765176A>CCA385505523CYP27B1n.537T>G
c.706T>G (p.Cys236Gly)
c.683T>G (p.Leu228Arg)
c.625T>G (p.Cys209Gly)
c.-81T>G (n.-81T>G)
c.537T>G
n.764T>G
n.425T>G
12g.57765176A>GCA385505524CYP27B1n.537T>C
c.706T>C (p.Cys236Arg)
c.683T>C (p.Leu228Pro)
c.625T>C (p.Cys209Arg)
c.-81T>C (n.-81T>C)
c.537T>C
n.764T>C
n.425T>C
12g.57765176A>TCA385505525CYP27B1n.537T>A
c.706T>A (p.Cys236Ser)
c.683T>A (p.Leu228Gln)
c.625T>A (p.Cys209Ser)
c.-81T>A (n.-81T>A)
c.537T>A
n.764T>A
n.425T>A
12g.57765177G>ACA480403202CYP27B1n.536C>T
c.705C>T (p.Gly235=)
c.682C>T (p.Leu228=)
c.624C>T (p.Gly208=)
c.-82C>T (n.-82C>T)
c.536C>T
n.763C>T
n.424C>T
 dbSNP
12g.57765177G>CCA480403203CYP27B1n.536C>G
c.705C>G (p.Gly235=)
c.682C>G (p.Leu228Val)
c.624C>G (p.Gly208=)
c.-82C>G (n.-82C>G)
c.536C>G
n.763C>G
n.424C>G
12g.57765177G>TCA480403204CYP27B1n.536C>A
c.705C>A (p.Gly235=)
c.682C>A (p.Leu228Met)
c.624C>A (p.Gly208=)
c.-82C>A (n.-82C>A)
c.536C>A
n.763C>A
n.424C>A
12g.57765178C>ACA385505528CYP27B1n.535G>T
c.704G>T (p.Gly235Val)
c.681G>T (p.Gly227=)
c.623G>T (p.Gly208Val)
c.-83G>T (n.-83G>T)
c.535G>T
n.762G>T
n.423G>T
 ClinVar dbSNP
12g.57765178C>GCA385505530CYP27B1n.535G>C
c.704G>C (p.Gly235Ala)
c.681G>C (p.Gly227=)
c.623G>C (p.Gly208Ala)
c.-83G>C (n.-83G>C)
c.535G>C
n.762G>C
n.423G>C
12g.57765178C>TCA385505531CYP27B1n.535G>A
c.704G>A (p.Gly235Asp)
c.681G>A (p.Gly227=)
c.623G>A (p.Gly208Asp)
c.-83G>A (n.-83G>A)
c.535G>A
n.762G>A
n.423G>A
12g.57765180delCA2575206594CYP27B1n.535del
c.704del (p.Gly235AlafsTer27)
c.681del (p.Leu228CysfsTer?)
c.623del (p.Gly208AlafsTer27)
c.-83del (n.-83del)
c.535del
n.762del
n.423del
12g.57765179C>ACA385505534CYP27B1n.534G>T
c.703G>T (p.Gly235Cys)
c.680G>T (p.Gly227Val)
c.622G>T (p.Gly208Cys)
c.-84G>T (n.-84G>T)
c.534G>T
n.761G>T
n.422G>T
12g.57765179C=CA2038988945CYP27B1n.534G=
c.703G= (p.Gly235=)
c.680G= (p.Gly227=)
c.622G= (p.Gly208=)
c.-84G= (n.-84G=)
c.534G=
n.761G=
n.422G=
12g.57765179C>GCA385505536CYP27B1n.534G>C
c.703G>C (p.Gly235Arg)
c.680G>C (p.Gly227Ala)
c.622G>C (p.Gly208Arg)
c.-84G>C (n.-84G>C)
c.534G>C
n.761G>C
n.422G>C
12g.57765179C>TCA6658369CYP27B1n.534G>A
c.703G>A (p.Gly235Ser)
c.680G>A (p.Gly227Glu)
c.622G>A (p.Gly208Ser)
c.-84G>A (n.-84G>A)
c.534G>A
n.761G>A
n.422G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765180C>ACA385505541CYP27B1n.533G>T
c.702G>T (p.Leu234Phe)
c.679G>T (p.Gly227Trp)
c.621G>T (p.Leu207Phe)
c.-85G>T (n.-85G>T)
c.533G>T
n.760G>T
n.421G>T
12g.57765180C>GCA385505539CYP27B1n.533G>C
c.702G>C (p.Leu234Phe)
c.679G>C (p.Gly227Arg)
c.621G>C (p.Leu207Phe)
c.-85G>C (n.-85G>C)
c.533G>C
n.760G>C
n.421G>C
12g.57765180C>TCA480403206CYP27B1n.533G>A
c.702G>A (p.Leu234=)
c.679G>A (p.Gly227Arg)
c.621G>A (p.Leu207=)
c.-85G>A (n.-85G>A)
c.533G>A
n.760G>A
n.421G>A
 gnomAD v4
12g.57765181A>CCA385505543CYP27B1n.532T>G
c.701T>G (p.Leu234Trp)
c.678T>G (p.Leu226=)
c.620T>G (p.Leu207Trp)
c.-86T>G (n.-86T>G)
c.532T>G
n.759T>G
n.420T>G
12g.57765181A>GCA385505545CYP27B1n.532T>C
c.701T>C (p.Leu234Ser)
c.678T>C (p.Leu226=)
c.620T>C (p.Leu207Ser)
c.-86T>C (n.-86T>C)
c.532T>C
n.759T>C
n.420T>C
12g.57765181A>TCA385505546CYP27B1n.532T>A
c.701T>A (p.Leu234Ter)
c.678T>A (p.Leu226=)
c.620T>A (p.Leu207Ter)
c.-86T>A (n.-86T>A)
c.532T>A
n.759T>A
n.420T>A
12g.57765182A>CCA385505547CYP27B1n.531T>G
c.700T>G (p.Leu234Val)
c.677T>G (p.Leu226Arg)
c.619T>G (p.Leu207Val)
c.-87T>G (n.-87T>G)
c.531T>G
n.758T>G
n.419T>G
12g.57765182A>GCA480403207CYP27B1n.531T>C
c.700T>C (p.Leu234=)
c.677T>C (p.Leu226Pro)
c.619T>C (p.Leu207=)
c.-87T>C (n.-87T>C)
c.531T>C
n.758T>C
n.419T>C
12g.57765182A>TCA385505550CYP27B1n.531T>A
c.700T>A (p.Leu234Met)
c.677T>A (p.Leu226His)
c.619T>A (p.Leu207Met)
c.-87T>A (n.-87T>A)
c.531T>A
n.758T>A
n.419T>A
12g.57765183G>ACA480403209CYP27B1n.530C>T
c.699C>T (p.Arg233=)
c.676C>T (p.Leu226Phe)
c.618C>T (p.Arg206=)
c.-88C>T (n.-88C>T)
c.530C>T
n.757C>T
n.418C>T
 gnomAD v4
12g.57765183G>CCA480403208CYP27B1n.530C>G
c.699C>G (p.Arg233=)
c.676C>G (p.Leu226Val)
c.618C>G (p.Arg206=)
c.-88C>G (n.-88C>G)
c.530C>G
n.757C>G
n.418C>G
12g.57765183G=CA2038988950CYP27B1n.530C=
c.699C= (p.Arg233=)
c.676C= (p.Leu226=)
c.618C= (p.Arg206=)
c.-88C= (n.-88C=)
c.530C=
n.757C=
n.418C=
12g.57765183G>TCA6658370CYP27B1n.530C>A
c.699C>A (p.Arg233=)
c.676C>A (p.Leu226Ile)
c.618C>A (p.Arg206=)
c.-88C>A (n.-88C>A)
c.530C>A
n.757C>A
n.418C>A
 dbSNP ExAC gnomAD v2

Number of alleles fetched