Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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
12g.57765072G>ACA480402097CYP27B1n.641C>T
c.810C>T (p.Arg270=)
c.787C>T (p.Pro263Ser)
c.729C>T (p.Arg243=)
c.24C>T (p.Arg8=)
c.641C>T
n.868C>T
n.529C>T
 dbSNP
12g.57765072G>CCA480402096CYP27B1n.641C>G
c.810C>G (p.Arg270=)
c.787C>G (p.Pro263Ala)
c.729C>G (p.Arg243=)
c.24C>G (p.Arg8=)
c.641C>G
n.868C>G
n.529C>G
12g.57765072G>TCA480402095CYP27B1n.641C>A
c.810C>A (p.Arg270=)
c.787C>A (p.Pro263Thr)
c.729C>A (p.Arg243=)
c.24C>A (p.Arg8=)
c.641C>A
n.868C>A
n.529C>A
12g.57765073C>ACA385505248CYP27B1n.640G>T
c.809G>T (p.Arg270Leu)
c.786G>T (p.Ala262=)
c.728G>T (p.Arg243Leu)
c.23G>T (p.Arg8Leu)
c.640G>T
n.867G>T
n.528G>T
12g.57765073C=CA2038988660CYP27B1n.640G=
c.809G= (p.Arg270=)
c.786G= (p.Ala262=)
c.728G= (p.Arg243=)
c.23G= (p.Arg8=)
c.640G=
n.867G=
n.528G=
12g.57765073C>GCA385505249CYP27B1n.640G>C
c.809G>C (p.Arg270Pro)
c.786G>C (p.Ala262=)
c.728G>C (p.Arg243Pro)
c.23G>C (p.Arg8Pro)
c.640G>C
n.867G>C
n.528G>C
12g.57765073C>TCA6658347CYP27B1n.640G>A
c.809G>A (p.Arg270His)
c.786G>A (p.Ala262=)
c.728G>A (p.Arg243His)
c.23G>A (p.Arg8His)
c.640G>A
n.867G>A
n.528G>A
 dbSNP ExAC gnomAD v2
12g.57765074G>ACA6658348CYP27B1n.639C>T
c.808C>T (p.Arg270Cys)
c.785C>T (p.Ala262Val)
c.727C>T (p.Arg243Cys)
c.22C>T (p.Arg8Cys)
c.639C>T
n.866C>T
n.527C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765074G>CCA385505250CYP27B1n.639C>G
c.808C>G (p.Arg270Gly)
c.785C>G (p.Ala262Gly)
c.727C>G (p.Arg243Gly)
c.22C>G (p.Arg8Gly)
c.639C>G
n.866C>G
n.527C>G
12g.57765074G=CA2038988664CYP27B1n.639C=
c.808C= (p.Arg270=)
c.785C= (p.Ala262=)
c.727C= (p.Arg243=)
c.22C= (p.Arg8=)
c.639C=
n.866C=
n.527C=
12g.57765074G>TCA385505251CYP27B1n.639C>A
c.808C>A (p.Arg270Ser)
c.785C>A (p.Ala262Glu)
c.727C>A (p.Arg243Ser)
c.22C>A (p.Arg8Ser)
c.639C>A
n.866C>A
n.527C>A
12g.57765075C>ACA480402098CYP27B1n.638G>T
c.807G>T (p.Leu269=)
c.784G>T (p.Ala262Ser)
c.726G>T (p.Leu242=)
c.21G>T (p.Leu7=)
c.638G>T
n.865G>T
n.526G>T
12g.57765075C>GCA480402100CYP27B1n.638G>C
c.807G>C (p.Leu269=)
c.784G>C (p.Ala262Pro)
c.726G>C (p.Leu242=)
c.21G>C (p.Leu7=)
c.638G>C
n.865G>C
n.526G>C
12g.57765075C>TCA480402099CYP27B1n.638G>A
c.807G>A (p.Leu269=)
c.784G>A (p.Ala262Thr)
c.726G>A (p.Leu242=)
c.21G>A (p.Leu7=)
c.638G>A
n.865G>A
n.526G>A
 gnomAD v4
12g.57765076A>CCA385505252CYP27B1n.637T>G
c.806T>G (p.Leu269Arg)
c.783T>G (p.Ala261=)
c.725T>G (p.Leu242Arg)
c.20T>G (p.Leu7Arg)
c.637T>G
n.864T>G
n.525T>G
12g.57765076A>GCA385505253CYP27B1n.637T>C
c.806T>C (p.Leu269Pro)
c.783T>C (p.Ala261=)
c.725T>C (p.Leu242Pro)
c.20T>C (p.Leu7Pro)
c.637T>C
n.864T>C
n.525T>C
12g.57765076A>TCA385505254CYP27B1n.637T>A
c.806T>A (p.Leu269Gln)
c.783T>A (p.Ala261=)
c.725T>A (p.Leu242Gln)
c.20T>A (p.Leu7Gln)
c.637T>A
n.864T>A
n.525T>A
12g.57765077G>ACA480402101CYP27B1n.636C>T
c.805C>T (p.Leu269=)
c.782C>T (p.Ala261Val)
c.724C>T (p.Leu242=)
c.19C>T (p.Leu7=)
c.636C>T
n.863C>T
n.524C>T
12g.57765077G>CCA385505255CYP27B1n.636C>G
c.805C>G (p.Leu269Val)
c.782C>G (p.Ala261Gly)
c.724C>G (p.Leu242Val)
c.19C>G (p.Leu7Val)
c.636C>G
n.863C>G
n.524C>G
12g.57765077G>TCA385505256CYP27B1n.636C>A
c.805C>A (p.Leu269Met)
c.782C>A (p.Ala261Asp)
c.724C>A (p.Leu242Met)
c.19C>A (p.Leu7Met)
c.636C>A
n.863C>A
n.524C>A
12g.57765078C>ACA385505257CYP27B1n.635G>T
c.804G>T (p.Trp268Cys)
c.781G>T (p.Ala261Ser)
c.723G>T (p.Trp241Cys)
c.18G>T (p.Trp6Cys)
c.635G>T
n.862G>T
n.523G>T
12g.57765078C=CA2038988668CYP27B1n.635G=
c.804G= (p.Trp268=)
c.781G= (p.Ala261=)
c.723G= (p.Trp241=)
c.18G= (p.Trp6=)
c.635G=
n.862G=
n.523G=
12g.57765078C>GCA385505258CYP27B1n.635G>C
c.804G>C (p.Trp268Cys)
c.781G>C (p.Ala261Pro)
c.723G>C (p.Trp241Cys)
c.18G>C (p.Trp6Cys)
c.635G>C
n.862G>C
n.523G>C
12g.57765078C>TCA385505259CYP27B1n.635G>A
c.804G>A (p.Trp268Ter)
c.781G>A (p.Ala261Thr)
c.723G>A (p.Trp241Ter)
c.18G>A (p.Trp6Ter)
c.635G>A
n.862G>A
n.523G>A
 dbSNP gnomAD v3 gnomAD v4
12g.57765079C>ACA6658349CYP27B1n.634G>T
c.803G>T (p.Trp268Leu)
c.780G>T (p.Leu260=)
c.722G>T (p.Trp241Leu)
c.17G>T (p.Trp6Leu)
c.634G>T
n.861G>T
n.522G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765079C=CA2038988672CYP27B1n.634G=
c.803G= (p.Trp268=)
c.780G= (p.Leu260=)
c.722G= (p.Trp241=)
c.17G= (p.Trp6=)
c.634G=
n.861G=
n.522G=
12g.57765079C>GCA385505261CYP27B1n.634G>C
c.803G>C (p.Trp268Ser)
c.780G>C (p.Leu260=)
c.722G>C (p.Trp241Ser)
c.17G>C (p.Trp6Ser)
c.634G>C
n.861G>C
n.522G>C
12g.57765079C>TCA385505260CYP27B1n.634G>A
c.803G>A (p.Trp268Ter)
c.780G>A (p.Leu260=)
c.722G>A (p.Trp241Ter)
c.17G>A (p.Trp6Ter)
c.634G>A
n.861G>A
n.522G>A
12g.57765080A=CA2038988675CYP27B1n.633T=
c.802T= (p.Trp268=)
c.779T= (p.Leu260=)
c.721T= (p.Trp241=)
c.16T= (p.Trp6=)
c.633T=
n.860T=
n.521T=
12g.57765080A>CCA385505264CYP27B1n.633T>G
c.802T>G (p.Trp268Gly)
c.779T>G (p.Leu260Arg)
c.721T>G (p.Trp241Gly)
c.16T>G (p.Trp6Gly)
c.633T>G
n.860T>G
n.521T>G
12g.57765080A>GCA385505262CYP27B1n.633T>C
c.802T>C (p.Trp268Arg)
c.779T>C (p.Leu260Pro)
c.721T>C (p.Trp241Arg)
c.16T>C (p.Trp6Arg)
c.633T>C
n.860T>C
n.521T>C
 dbSNP gnomAD v2 gnomAD v4
12g.57765080A>TCA385505263CYP27B1n.633T>A
c.802T>A (p.Trp268Arg)
c.779T>A (p.Leu260Gln)
c.721T>A (p.Trp241Arg)
c.16T>A (p.Trp6Arg)
c.633T>A
n.860T>A
n.521T>A
 COSMIC
12g.57765081G>ACA6658350CYP27B1n.632C>T
c.801C>T (p.His267=)
c.778C>T (p.Leu260=)
c.720C>T (p.His240=)
c.15C>T (p.His5=)
c.632C>T
n.859C>T
n.520C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57765081G>CCA385505265CYP27B1n.632C>G
c.801C>G (p.His267Gln)
c.778C>G (p.Leu260Val)
c.720C>G (p.His240Gln)
c.15C>G (p.His5Gln)
c.632C>G
n.859C>G
n.520C>G
12g.57765081G=CA2038988680CYP27B1n.632C=
c.801C= (p.His267=)
c.778C= (p.Leu260=)
c.720C= (p.His240=)
c.15C= (p.His5=)
c.632C=
n.859C=
n.520C=
12g.57765081G>TCA385505266CYP27B1n.632C>A
c.801C>A (p.His267Gln)
c.778C>A (p.Leu260Met)
c.720C>A (p.His240Gln)
c.15C>A (p.His5Gln)
c.632C>A
n.859C>A
n.520C>A
 COSMIC
12g.57765082T>ACA385505267CYP27B1n.631A>T
c.800A>T (p.His267Leu)
c.777A>T (p.Pro259=)
c.719A>T (p.His240Leu)
c.14A>T (p.His5Leu)
c.631A>T
n.858A>T
n.519A>T
12g.57765082T>CCA385505268CYP27B1n.631A>G
c.800A>G (p.His267Arg)
c.777A>G (p.Pro259=)
c.719A>G (p.His240Arg)
c.14A>G (p.His5Arg)
c.631A>G
n.858A>G
n.519A>G
12g.57765082T>GCA385505269CYP27B1n.631A>C
c.800A>C (p.His267Pro)
c.777A>C (p.Pro259=)
c.719A>C (p.His240Pro)
c.14A>C (p.His5Pro)
c.631A>C
n.858A>C
n.519A>C
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

Number of alleles fetched