Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767037T>ACA351071610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.859T>A (p.Phe287Ile)
c.871T>A (p.Phe291Ile)
c.865T>A (p.Phe289Ile)
c.868T>A (p.Phe290Ile)
c.64T>A (p.Phe22Ile)
c.445T>A (n.445T>A)
2g.233767037T>CCA351071609UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.859T>C (p.Phe287Leu)
c.871T>C (p.Phe291Leu)
c.865T>C (p.Phe289Leu)
c.868T>C (p.Phe290Leu)
c.64T>C (p.Phe22Leu)
c.445T>C (n.445T>C)
2g.233767037T>GCA351071604UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.859T>G (p.Phe287Val)
c.871T>G (p.Phe291Val)
c.865T>G (p.Phe289Val)
c.868T>G (p.Phe290Val)
c.64T>G (p.Phe22Val)
c.445T>G (n.445T>G)
2g.233767038T>ACA351071613UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.860T>A (p.Phe287Tyr)
c.872T>A (p.Phe291Tyr)
c.866T>A (p.Phe289Tyr)
c.869T>A (p.Phe290Tyr)
c.65T>A (p.Phe22Tyr)
c.446T>A (n.446T>A)
2g.233767038T>CCA351071615UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.860T>C (p.Phe287Ser)
c.872T>C (p.Phe291Ser)
c.866T>C (p.Phe289Ser)
c.869T>C (p.Phe290Ser)
c.65T>C (p.Phe22Ser)
c.446T>C (n.446T>C)
2g.233767038T>GCA351071617UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.860T>G (p.Phe287Cys)
c.872T>G (p.Phe291Cys)
c.866T>G (p.Phe289Cys)
c.869T>G (p.Phe290Cys)
c.65T>G (p.Phe22Cys)
c.446T>G (n.446T>G)
2g.233767039T>ACA351071619UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.861T>A (p.Phe287Leu)
c.873T>A (p.Phe291Leu)
c.867T>A (p.Phe289Leu)
c.870T>A (p.Phe290Leu)
c.66T>A (p.Phe22Leu)
c.447T>A (n.447T>A)
2g.233767039T>CCA431855185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.861T>C (p.Phe287=)
c.873T>C (p.Phe291=)
c.867T>C (p.Phe289=)
c.870T>C (p.Phe290=)
c.66T>C (p.Phe22=)
c.447T>C (n.447T>C)
dbSNP gnomAD v4
2g.233767039T>GCA351071625UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.861T>G (p.Phe287Leu)
c.873T>G (p.Phe291Leu)
c.867T>G (p.Phe289Leu)
c.870T>G (p.Phe290Leu)
c.66T>G (p.Phe22Leu)
c.447T>G (n.447T>G)
2g.233767039T=CA1335894693UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.861T= (p.Phe287=)
c.873T= (p.Phe291=)
c.867T= (p.Phe289=)
c.870T= (p.Phe290=)
c.66T= (p.Phe22=)
c.447T= (n.447T=)
2g.233767040G>ACA351071627UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.862G>A (p.Glu288Lys)
c.874G>A (p.Glu292Lys)
c.868G>A (p.Glu290Lys)
c.871G>A (p.Glu291Lys)
c.67G>A (p.Glu23Lys)
c.448G>A (n.448G>A)
dbSNP
2g.233767040G>CCA351071630UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.862G>C (p.Glu288Gln)
c.874G>C (p.Glu292Gln)
c.868G>C (p.Glu290Gln)
c.871G>C (p.Glu291Gln)
c.67G>C (p.Glu23Gln)
c.448G>C (n.448G>C)
2g.233767040G=CA1335894694UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.862G= (p.Glu288=)
c.874G= (p.Glu292=)
c.868G= (p.Glu290=)
c.871G= (p.Glu291=)
c.67G= (p.Glu23=)
c.448G= (n.448G=)
2g.233767040G>TCA351071633UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.862G>T (p.Glu288Ter)
c.874G>T (p.Glu292Ter)
c.868G>T (p.Glu290Ter)
c.871G>T (p.Glu291Ter)
c.67G>T (p.Glu23Ter)
c.448G>T (n.448G>T)
2g.233767041A>CCA351071636UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.863A>C (p.Glu288Ala)
c.875A>C (p.Glu292Ala)
c.869A>C (p.Glu290Ala)
c.872A>C (p.Glu291Ala)
c.68A>C (p.Glu23Ala)
c.449A>C (n.449A>C)
2g.233767041A>GCA351071639UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.863A>G (p.Glu288Gly)
c.875A>G (p.Glu292Gly)
c.869A>G (p.Glu290Gly)
c.872A>G (p.Glu291Gly)
c.68A>G (p.Glu23Gly)
c.449A>G (n.449A>G)
2g.233767041A>TCA351071641UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.863A>T (p.Glu288Val)
c.875A>T (p.Glu292Val)
c.869A>T (p.Glu290Val)
c.872A>T (p.Glu291Val)
c.68A>T (p.Glu23Val)
c.449A>T (n.449A>T)
2g.233767042A>CCA351071644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.864A>C (p.Glu288Asp)
c.876A>C (p.Glu292Asp)
c.870A>C (p.Glu290Asp)
c.873A>C (p.Glu291Asp)
c.69A>C (p.Glu23Asp)
c.450A>C (n.450A>C)
2g.233767042A>GCA431855235UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.864A>G (p.Glu288=)
c.876A>G (p.Glu292=)
c.870A>G (p.Glu290=)
c.873A>G (p.Glu291=)
c.69A>G (p.Glu23=)
c.450A>G (n.450A>G)
2g.233767042A>TCA351071646UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.864A>T (p.Glu288Asp)
c.876A>T (p.Glu292Asp)
c.870A>T (p.Glu290Asp)
c.873A>T (p.Glu291Asp)
c.69A>T (p.Glu23Asp)
c.450A>T (n.450A>T)
2g.233767043G>ACA351071651UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.865G>A (p.Ala289Thr)
c.877G>A (p.Ala293Thr)
c.871G>A (p.Ala291Thr)
c.874G>A (p.Ala292Thr)
c.70G>A (p.Ala24Thr)
c.451G>A (n.451G>A)
2g.233767043G>CCA351071653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.865G>C (p.Ala289Pro)
c.877G>C (p.Ala293Pro)
c.871G>C (p.Ala291Pro)
c.874G>C (p.Ala292Pro)
c.70G>C (p.Ala24Pro)
c.451G>C (n.451G>C)
2g.233767043G>TCA351071649UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.865G>T (p.Ala289Ser)
c.877G>T (p.Ala293Ser)
c.871G>T (p.Ala291Ser)
c.874G>T (p.Ala292Ser)
c.70G>T (p.Ala24Ser)
c.451G>T (n.451G>T)
2g.233767045_233767056delCA2663716532UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867_878del (p.Tyr290_Ala293del)
c.879_890del (p.Tyr294_Ala297del)
c.873_884del (p.Tyr292_Ala295del)
c.876_887del (p.Tyr293_Ala296del)
c.72_83del (p.Tyr25_Ala28del)
c.453_464del (n.453_464del)
gnomAD v4
2g.233767044C>ACA2179920UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.866C>A (p.Ala289Asp)
c.878C>A (p.Ala293Asp)
c.872C>A (p.Ala291Asp)
c.875C>A (p.Ala292Asp)
c.71C>A (p.Ala24Asp)
c.452C>A (n.452C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767044C=CA1335894695UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.866C= (p.Ala289=)
c.878C= (p.Ala293=)
c.872C= (p.Ala291=)
c.875C= (p.Ala292=)
c.71C= (p.Ala24=)
c.452C= (n.452C=)
2g.233767044C>GCA351071656UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.866C>G (p.Ala289Gly)
c.878C>G (p.Ala293Gly)
c.872C>G (p.Ala291Gly)
c.875C>G (p.Ala292Gly)
c.71C>G (p.Ala24Gly)
c.452C>G (n.452C>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767044C>TCA351071658UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.866C>T (p.Ala289Val)
c.878C>T (p.Ala293Val)
c.872C>T (p.Ala291Val)
c.875C>T (p.Ala292Val)
c.71C>T (p.Ala24Val)
c.452C>T (n.452C>T)
dbSNP gnomAD v2 gnomAD v4
2g.233767045C>ACA431855261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867C>A (p.Ala289=)
c.879C>A (p.Ala293=)
c.873C>A (p.Ala291=)
c.876C>A (p.Ala292=)
c.72C>A (p.Ala24=)
c.453C>A (n.453C>A)
2g.233767045C=CA1335894697UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867C= (p.Ala289=)
c.879C= (p.Ala293=)
c.873C= (p.Ala291=)
c.876C= (p.Ala292=)
c.72C= (p.Ala24=)
c.453C= (n.453C=)
2g.233767045C>GCA67595069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867C>G (p.Ala289=)
c.879C>G (p.Ala293=)
c.873C>G (p.Ala291=)
c.876C>G (p.Ala292=)
c.72C>G (p.Ala24=)
c.453C>G (n.453C>G)
dbSNP gnomAD v4
2g.233767045C>TCA431855262UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867C>T (p.Ala289=)
c.879C>T (p.Ala293=)
c.873C>T (p.Ala291=)
c.876C>T (p.Ala292=)
c.72C>T (p.Ala24=)
c.453C>T (n.453C>T)
2g.233767045_233767046delinsCTCA1335894698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867_868delinsCT (p.Ala289=)
c.879_880delinsCT (p.Ala293=)
c.873_874delinsCT (p.Ala291=)
c.876_877delinsCT (p.Ala292=)
c.72_73delinsCT (p.Ala24=)
c.453_454delinsCT (n.453_454delinsCT)
2g.233767045_233767058delinsCTACATTAATGCTTCA1335894696UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867_880delinsCTACATTAATGCTT (p.Ala289=)
c.879_892delinsCTACATTAATGCTT (p.Ala293=)
c.873_886delinsCTACATTAATGCTT (p.Ala291=)
c.876_889delinsCTACATTAATGCTT (p.Ala292=)
c.72_85delinsCTACATTAATGCTT (p.Ala24=)
c.453_466delinsCTACATTAATGCTT (n.453_466delinsCTACATTAATGCTT)
2g.233767045_233767059delinsCTACATTAATGCTTCCA1335894699UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.867_881delinsCTACATTAATGCTTC (p.Ala289=)
c.879_893delinsCTACATTAATGCTTC (p.Ala293=)
c.873_887delinsCTACATTAATGCTTC (p.Ala291=)
c.876_890delinsCTACATTAATGCTTC (p.Ala292=)
c.72_86delinsCTACATTAATGCTTC (p.Ala24=)
c.453_467delinsCTACATTAATGCTTC (n.453_467delinsCTACATTAATGCTTC)
2g.233767046delCA2179921UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868del (p.Tyr290ThrfsTer?)
c.880del (p.Tyr294ThrfsTer?)
c.874del (p.Tyr292ThrfsTer?)
c.877del (p.Tyr293ThrfsTer?)
c.73del (p.Tyr25ThrfsTer?)
c.454del (n.454del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767046T>ACA351071661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868T>A (p.Tyr290Asn)
c.880T>A (p.Tyr294Asn)
c.874T>A (p.Tyr292Asn)
c.877T>A (p.Tyr293Asn)
c.73T>A (p.Tyr25Asn)
c.454T>A (n.454T>A)
2g.233767046T>CCA351071662UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868T>C (p.Tyr290His)
c.880T>C (p.Tyr294His)
c.874T>C (p.Tyr292His)
c.877T>C (p.Tyr293His)
c.73T>C (p.Tyr25His)
c.454T>C (n.454T>C)
2g.233767046T>GCA351071663UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868T>G (p.Tyr290Asp)
c.880T>G (p.Tyr294Asp)
c.874T>G (p.Tyr292Asp)
c.877T>G (p.Tyr293Asp)
c.73T>G (p.Tyr25Asp)
c.454T>G (n.454T>G)
2g.233767046_233767058delCA766269958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868_880del (p.Tyr290LeufsTer?)
c.880_892del (p.Tyr294LeufsTer?)
c.874_886del (p.Tyr292LeufsTer?)
c.877_889del (p.Tyr293LeufsTer?)
c.73_85del (p.Tyr25LeufsTer?)
c.454_466del (n.454_466del)
dbSNP
2g.233767046_233767059delinsACA122006UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.868_881delinsA (p.Tyr290MetfsTer?)
c.880_893delinsA (p.Tyr294MetfsTer?)
c.874_887delinsA (p.Tyr292MetfsTer?)
c.877_890delinsA (p.Tyr293MetfsTer?)
c.73_86delinsA (p.Tyr25MetfsTer?)
c.454_467delinsA (n.454_467delinsA)
ClinVar dbSNP
2g.233767047A>CCA351071666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.869A>C (p.Tyr290Ser)
c.881A>C (p.Tyr294Ser)
c.875A>C (p.Tyr292Ser)
c.878A>C (p.Tyr293Ser)
c.74A>C (p.Tyr25Ser)
c.455A>C (n.455A>C)
2g.233767047A>GCA351071668UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.869A>G (p.Tyr290Cys)
c.881A>G (p.Tyr294Cys)
c.875A>G (p.Tyr292Cys)
c.878A>G (p.Tyr293Cys)
c.74A>G (p.Tyr25Cys)
c.455A>G (n.455A>G)
gnomAD v4
2g.233767047A>TCA351071671UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.869A>T (p.Tyr290Phe)
c.881A>T (p.Tyr294Phe)
c.875A>T (p.Tyr292Phe)
c.878A>T (p.Tyr293Phe)
c.74A>T (p.Tyr25Phe)
c.455A>T (n.455A>T)
2g.233767047_233767059delinsACATTAATGCTTCCA1335894700UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.869_881delinsACATTAATGCTTC (p.Tyr290=)
c.881_893delinsACATTAATGCTTC (p.Tyr294=)
c.875_887delinsACATTAATGCTTC (p.Tyr292=)
c.878_890delinsACATTAATGCTTC (p.Tyr293=)
c.74_86delinsACATTAATGCTTC (p.Tyr25=)
c.455_467delinsACATTAATGCTTC (n.455_467delinsACATTAATGCTTC)
2g.233767048C>ACA351071674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.870C>A (p.Tyr290Ter)
c.882C>A (p.Tyr294Ter)
c.876C>A (p.Tyr292Ter)
c.879C>A (p.Tyr293Ter)
c.75C>A (p.Tyr25Ter)
c.456C>A (n.456C>A)
2g.233767048C=CA1335894701UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.870C= (p.Tyr290=)
c.882C= (p.Tyr294=)
c.876C= (p.Tyr292=)
c.879C= (p.Tyr293=)
c.75C= (p.Tyr25=)
c.456C= (n.456C=)
2g.233767048C>GCA351071676UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.870C>G (p.Tyr290Ter)
c.882C>G (p.Tyr294Ter)
c.876C>G (p.Tyr292Ter)
c.879C>G (p.Tyr293Ter)
c.75C>G (p.Tyr25Ter)
c.456C>G (n.456C>G)
2g.233767048C>TCA431855301UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.870C>T (p.Tyr290=)
c.882C>T (p.Tyr294=)
c.876C>T (p.Tyr292=)
c.879C>T (p.Tyr293=)
c.75C>T (p.Tyr25=)
c.456C>T (n.456C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767048_233767059delCA2179922UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.870_881del (p.Ile291_Ser294del)
c.882_893del (p.Ile295_Ser298del)
c.876_887del (p.Ile293_Ser296del)
c.879_890del (p.Ile294_Ser297del)
c.75_86del (p.Ile26_Ser29del)
c.456_467del (n.456_467del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767049A>CCA351071683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.871A>C (p.Ile291Leu)
c.883A>C (p.Ile295Leu)
c.877A>C (p.Ile293Leu)
c.880A>C (p.Ile294Leu)
c.76A>C (p.Ile26Leu)
c.457A>C (n.457A>C)
2g.233767049A>GCA351071680UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.871A>G (p.Ile291Val)
c.883A>G (p.Ile295Val)
c.877A>G (p.Ile293Val)
c.880A>G (p.Ile294Val)
c.76A>G (p.Ile26Val)
c.457A>G (n.457A>G)
2g.233767049A>TCA351071682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.871A>T (p.Ile291Phe)
c.883A>T (p.Ile295Phe)
c.877A>T (p.Ile293Phe)
c.880A>T (p.Ile294Phe)
c.76A>T (p.Ile26Phe)
c.457A>T (n.457A>T)
2g.233767050T>ACA351071686UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.872T>A (p.Ile291Asn)
c.884T>A (p.Ile295Asn)
c.878T>A (p.Ile293Asn)
c.881T>A (p.Ile294Asn)
c.77T>A (p.Ile26Asn)
c.458T>A (n.458T>A)
2g.233767050T>CCA67595088UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.872T>C (p.Ile291Thr)
c.884T>C (p.Ile295Thr)
c.878T>C (p.Ile293Thr)
c.881T>C (p.Ile294Thr)
c.77T>C (p.Ile26Thr)
c.458T>C (n.458T>C)
dbSNP
2g.233767050T>GCA351071698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.872T>G (p.Ile291Ser)
c.884T>G (p.Ile295Ser)
c.878T>G (p.Ile293Ser)
c.881T>G (p.Ile294Ser)
c.77T>G (p.Ile26Ser)
c.458T>G (n.458T>G)
2g.233767050T=CA1335894702UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.872T= (p.Ile291=)
c.884T= (p.Ile295=)
c.878T= (p.Ile293=)
c.881T= (p.Ile294=)
c.77T= (p.Ile26=)
c.458T= (n.458T=)
2g.233767051delCA2663716561UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.873del (p.Asn292MetfsTer?)
c.885del (p.Asn296MetfsTer?)
c.879del (p.Asn294MetfsTer?)
c.882del (p.Asn295MetfsTer?)
c.78del (p.Asn27MetfsTer?)
c.459del (n.459del)
gnomAD v4
2g.233767051T>ACA431855338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.873T>A (p.Ile291=)
c.885T>A (p.Ile295=)
c.879T>A (p.Ile293=)
c.882T>A (p.Ile294=)
c.78T>A (p.Ile26=)
c.459T>A (n.459T>A)
2g.233767051T>CCA431855333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.873T>C (p.Ile291=)
c.885T>C (p.Ile295=)
c.879T>C (p.Ile293=)
c.882T>C (p.Ile294=)
c.78T>C (p.Ile26=)
c.459T>C (n.459T>C)
2g.233767051T>GCA351071700UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.873T>G (p.Ile291Met)
c.885T>G (p.Ile295Met)
c.879T>G (p.Ile293Met)
c.882T>G (p.Ile294Met)
c.78T>G (p.Ile26Met)
c.459T>G (n.459T>G)
2g.233767052A>CCA351071703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.874A>C (p.Asn292His)
c.886A>C (p.Asn296His)
c.880A>C (p.Asn294His)
c.883A>C (p.Asn295His)
c.79A>C (p.Asn27His)
c.460A>C (n.460A>C)
2g.233767052A>GCA351071704UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.874A>G (p.Asn292Asp)
c.886A>G (p.Asn296Asp)
c.880A>G (p.Asn294Asp)
c.883A>G (p.Asn295Asp)
c.79A>G (p.Asn27Asp)
c.460A>G (n.460A>G)
2g.233767052A>TCA351071705UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.874A>T (p.Asn292Tyr)
c.886A>T (p.Asn296Tyr)
c.880A>T (p.Asn294Tyr)
c.883A>T (p.Asn295Tyr)
c.79A>T (p.Asn27Tyr)
c.460A>T (n.460A>T)
2g.233767053A>CCA351071707UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.875A>C (p.Asn292Thr)
c.887A>C (p.Asn296Thr)
c.881A>C (p.Asn294Thr)
c.884A>C (p.Asn295Thr)
c.80A>C (p.Asn27Thr)
c.461A>C (n.461A>C)
2g.233767053A>GCA351071709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.875A>G (p.Asn292Ser)
c.887A>G (p.Asn296Ser)
c.881A>G (p.Asn294Ser)
c.884A>G (p.Asn295Ser)
c.80A>G (p.Asn27Ser)
c.461A>G (n.461A>G)
2g.233767053A>TCA351071710UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.875A>T (p.Asn292Ile)
c.887A>T (p.Asn296Ile)
c.881A>T (p.Asn294Ile)
c.884A>T (p.Asn295Ile)
c.80A>T (p.Asn27Ile)
c.461A>T (n.461A>T)
2g.233767054T>ACA351071711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.876T>A (p.Asn292Lys)
c.888T>A (p.Asn296Lys)
c.882T>A (p.Asn294Lys)
c.885T>A (p.Asn295Lys)
c.81T>A (p.Asn27Lys)
c.462T>A (n.462T>A)
2g.233767054T>CCA431855356UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.876T>C (p.Asn292=)
c.888T>C (p.Asn296=)
c.882T>C (p.Asn294=)
c.885T>C (p.Asn295=)
c.81T>C (p.Asn27=)
c.462T>C (n.462T>C)
dbSNP gnomAD v4
2g.233767054T>GCA351071713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.876T>G (p.Asn292Lys)
c.888T>G (p.Asn296Lys)
c.882T>G (p.Asn294Lys)
c.885T>G (p.Asn295Lys)
c.81T>G (p.Asn27Lys)
c.462T>G (n.462T>G)
2g.233767054T=CA1335894703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.876T= (p.Asn292=)
c.888T= (p.Asn296=)
c.882T= (p.Asn294=)
c.885T= (p.Asn295=)
c.81T= (p.Asn27=)
c.462T= (n.462T=)
2g.233767055G>ACA351071720UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.877G>A (p.Ala293Thr)
c.889G>A (p.Ala297Thr)
c.883G>A (p.Ala295Thr)
c.886G>A (p.Ala296Thr)
c.82G>A (p.Ala28Thr)
c.463G>A (n.463G>A)
2g.233767055G>CCA351071718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.877G>C (p.Ala293Pro)
c.889G>C (p.Ala297Pro)
c.883G>C (p.Ala295Pro)
c.886G>C (p.Ala296Pro)
c.82G>C (p.Ala28Pro)
c.463G>C (n.463G>C)
2g.233767055G>TCA351071715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.877G>T (p.Ala293Ser)
c.889G>T (p.Ala297Ser)
c.883G>T (p.Ala295Ser)
c.886G>T (p.Ala296Ser)
c.82G>T (p.Ala28Ser)
c.463G>T (n.463G>T)
2g.233767056C>ACA351071722UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.878C>A (p.Ala293Asp)
c.890C>A (p.Ala297Asp)
c.884C>A (p.Ala295Asp)
c.887C>A (p.Ala296Asp)
c.83C>A (p.Ala28Asp)
c.464C>A (n.464C>A)
2g.233767056C>GCA351071727UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.878C>G (p.Ala293Gly)
c.890C>G (p.Ala297Gly)
c.884C>G (p.Ala295Gly)
c.887C>G (p.Ala296Gly)
c.83C>G (p.Ala28Gly)
c.464C>G (n.464C>G)
2g.233767056C>TCA351071730UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.878C>T (p.Ala293Val)
c.890C>T (p.Ala297Val)
c.884C>T (p.Ala295Val)
c.887C>T (p.Ala296Val)
c.83C>T (p.Ala28Val)
c.464C>T (n.464C>T)
2g.233767057T>ACA431855388UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.879T>A (p.Ala293=)
c.891T>A (p.Ala297=)
c.885T>A (p.Ala295=)
c.888T>A (p.Ala296=)
c.84T>A (p.Ala28=)
c.465T>A (n.465T>A)
2g.233767057T>CCA431855389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.879T>C (p.Ala293=)
c.891T>C (p.Ala297=)
c.885T>C (p.Ala295=)
c.888T>C (p.Ala296=)
c.84T>C (p.Ala28=)
c.465T>C (n.465T>C)
2g.233767057T>GCA431855383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.879T>G (p.Ala293=)
c.891T>G (p.Ala297=)
c.885T>G (p.Ala295=)
c.888T>G (p.Ala296=)
c.84T>G (p.Ala28=)
c.465T>G (n.465T>G)
dbSNP
2g.233767057T=CA1335894704UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.879T= (p.Ala293=)
c.891T= (p.Ala297=)
c.885T= (p.Ala295=)
c.888T= (p.Ala296=)
c.84T= (p.Ala28=)
c.465T= (n.465T=)
2g.233767058T>ACA351071733UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.880T>A (p.Ser294Thr)
c.892T>A (p.Ser298Thr)
c.886T>A (p.Ser296Thr)
c.889T>A (p.Ser297Thr)
c.85T>A (p.Ser29Thr)
c.466T>A (n.466T>A)
2g.233767058T>CCA351071735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.880T>C (p.Ser294Pro)
c.892T>C (p.Ser298Pro)
c.886T>C (p.Ser296Pro)
c.889T>C (p.Ser297Pro)
c.85T>C (p.Ser29Pro)
c.466T>C (n.466T>C)
2g.233767058T>GCA351071743UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.880T>G (p.Ser294Ala)
c.892T>G (p.Ser298Ala)
c.886T>G (p.Ser296Ala)
c.889T>G (p.Ser297Ala)
c.85T>G (p.Ser29Ala)
c.466T>G (n.466T>G)
2g.233767059C>ACA67595089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.881C>A (p.Ser294Tyr)
c.893C>A (p.Ser298Tyr)
c.887C>A (p.Ser296Tyr)
c.890C>A (p.Ser297Tyr)
c.86C>A (p.Ser29Tyr)
c.467C>A (n.467C>A)
dbSNP
2g.233767059C=CA1335894705UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.881C= (p.Ser294=)
c.893C= (p.Ser298=)
c.887C= (p.Ser296=)
c.890C= (p.Ser297=)
c.86C= (p.Ser29=)
c.467C= (n.467C=)
2g.233767059C>GCA351071751UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.881C>G (p.Ser294Cys)
c.893C>G (p.Ser298Cys)
c.887C>G (p.Ser296Cys)
c.890C>G (p.Ser297Cys)
c.86C>G (p.Ser29Cys)
c.467C>G (n.467C>G)
2g.233767059C>TCA351071754UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.881C>T (p.Ser294Phe)
c.893C>T (p.Ser298Phe)
c.887C>T (p.Ser296Phe)
c.890C>T (p.Ser297Phe)
c.86C>T (p.Ser29Phe)
c.467C>T (n.467C>T)
2g.233767060T>ACA431855424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.882T>A (p.Ser294=)
c.894T>A (p.Ser298=)
c.888T>A (p.Ser296=)
c.891T>A (p.Ser297=)
c.87T>A (p.Ser29=)
c.468T>A (n.468T>A)
2g.233767060T>CCA431855421UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.882T>C (p.Ser294=)
c.894T>C (p.Ser298=)
c.888T>C (p.Ser296=)
c.891T>C (p.Ser297=)
c.87T>C (p.Ser29=)
c.468T>C (n.468T>C)
dbSNP
2g.233767060T>GCA431855427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.882T>G (p.Ser294=)
c.894T>G (p.Ser298=)
c.888T>G (p.Ser296=)
c.891T>G (p.Ser297=)
c.87T>G (p.Ser29=)
c.468T>G (n.468T>G)
2g.233767060T=CA1335894706UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.882T= (p.Ser294=)
c.894T= (p.Ser298=)
c.888T= (p.Ser296=)
c.891T= (p.Ser297=)
c.87T= (p.Ser29=)
c.468T= (n.468T=)
2g.233767061G>ACA351071755UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.883G>A (p.Gly295Arg)
c.895G>A (p.Gly299Arg)
c.889G>A (p.Gly297Arg)
c.892G>A (p.Gly298Arg)
c.88G>A (p.Gly30Arg)
c.469G>A (n.469G>A)
2g.233767061G>CCA351071758UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.883G>C (p.Gly295Arg)
c.895G>C (p.Gly299Arg)
c.889G>C (p.Gly297Arg)
c.892G>C (p.Gly298Arg)
c.88G>C (p.Gly30Arg)
c.469G>C (n.469G>C)
2g.233767061G>TCA351071760UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.883G>T (p.Gly295Ter)
c.895G>T (p.Gly299Ter)
c.889G>T (p.Gly297Ter)
c.892G>T (p.Gly298Ter)
c.88G>T (p.Gly30Ter)
c.469G>T (n.469G>T)
2g.233767062G>ACA351071762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.884G>A (p.Gly295Glu)
c.896G>A (p.Gly299Glu)
c.890G>A (p.Gly297Glu)
c.893G>A (p.Gly298Glu)
c.89G>A (p.Gly30Glu)
c.470G>A (n.470G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233767062G>CCA351071763UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.884G>C (p.Gly295Ala)
c.896G>C (p.Gly299Ala)
c.890G>C (p.Gly297Ala)
c.893G>C (p.Gly298Ala)
c.89G>C (p.Gly30Ala)
c.470G>C (n.470G>C)
2g.233767062G=CA1335894707UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.884G= (p.Gly295=)
c.896G= (p.Gly299=)
c.890G= (p.Gly297=)
c.893G= (p.Gly298=)
c.89G= (p.Gly30=)
c.470G= (n.470G=)
2g.233767062G>TCA351071761UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.884G>T (p.Gly295Val)
c.896G>T (p.Gly299Val)
c.890G>T (p.Gly297Val)
c.893G>T (p.Gly298Val)
c.89G>T (p.Gly30Val)
c.470G>T (n.470G>T)
2g.233767063A=CA1335894708UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.885A= (p.Gly295=)
c.897A= (p.Gly299=)
c.891A= (p.Gly297=)
c.894A= (p.Gly298=)
c.90A= (p.Gly30=)
c.471A= (n.471A=)
2g.233767063A>CCA431855459UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.885A>C (p.Gly295=)
c.897A>C (p.Gly299=)
c.891A>C (p.Gly297=)
c.894A>C (p.Gly298=)
c.90A>C (p.Gly30=)
c.471A>C (n.471A>C)
2g.233767063A>GCA431855458UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.885A>G (p.Gly295=)
c.897A>G (p.Gly299=)
c.891A>G (p.Gly297=)
c.894A>G (p.Gly298=)
c.90A>G (p.Gly30=)
c.471A>G (n.471A>G)
2g.233767063A>TCA67595090UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.885A>T (p.Gly295=)
c.897A>T (p.Gly299=)
c.891A>T (p.Gly297=)
c.894A>T (p.Gly298=)
c.90A>T (p.Gly30=)
c.471A>T (n.471A>T)
dbSNP
2g.233767064G>ACA351071765UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.886G>A (p.Glu296Lys)
c.898G>A (p.Glu300Lys)
c.892G>A (p.Glu298Lys)
c.895G>A (p.Glu299Lys)
c.91G>A (p.Glu31Lys)
c.472G>A (n.472G>A)
2g.233767064G>CCA351071766UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.886G>C (p.Glu296Gln)
c.898G>C (p.Glu300Gln)
c.892G>C (p.Glu298Gln)
c.895G>C (p.Glu299Gln)
c.91G>C (p.Glu31Gln)
c.472G>C (n.472G>C)
2g.233767064G>TCA351071768UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.886G>T (p.Glu296Ter)
c.898G>T (p.Glu300Ter)
c.892G>T (p.Glu298Ter)
c.895G>T (p.Glu299Ter)
c.91G>T (p.Glu31Ter)
c.472G>T (n.472G>T)
2g.233767065A>CCA351071770UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.887A>C (p.Glu296Ala)
c.899A>C (p.Glu300Ala)
c.893A>C (p.Glu298Ala)
c.896A>C (p.Glu299Ala)
c.92A>C (p.Glu31Ala)
c.473A>C (n.473A>C)
2g.233767065A>GCA351071771UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.887A>G (p.Glu296Gly)
c.899A>G (p.Glu300Gly)
c.893A>G (p.Glu298Gly)
c.896A>G (p.Glu299Gly)
c.92A>G (p.Glu31Gly)
c.473A>G (n.473A>G)
2g.233767065A>TCA351071775UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.887A>T (p.Glu296Val)
c.899A>T (p.Glu300Val)
c.893A>T (p.Glu298Val)
c.896A>T (p.Glu299Val)
c.92A>T (p.Glu31Val)
c.473A>T (n.473A>T)
2g.233767066A>CCA351071779UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.888A>C (p.Glu296Asp)
c.900A>C (p.Glu300Asp)
c.894A>C (p.Glu298Asp)
c.897A>C (p.Glu299Asp)
c.93A>C (p.Glu31Asp)
c.474A>C (n.474A>C)
2g.233767066A>GCA431855483UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.888A>G (p.Glu296=)
c.900A>G (p.Glu300=)
c.894A>G (p.Glu298=)
c.897A>G (p.Glu299=)
c.93A>G (p.Glu31=)
c.474A>G (n.474A>G)
2g.233767066A>TCA351071781UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.888A>T (p.Glu296Asp)
c.900A>T (p.Glu300Asp)
c.894A>T (p.Glu298Asp)
c.897A>T (p.Glu299Asp)
c.93A>T (p.Glu31Asp)
c.474A>T (n.474A>T)
2g.233767067C>ACA351071784UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.889C>A (p.His297Asn)
c.901C>A (p.His301Asn)
c.895C>A (p.His299Asn)
c.898C>A (p.His300Asn)
c.94C>A (p.His32Asn)
c.475C>A (n.475C>A)
2g.233767067C>GCA351071786UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.889C>G (p.His297Asp)
c.901C>G (p.His301Asp)
c.895C>G (p.His299Asp)
c.898C>G (p.His300Asp)
c.94C>G (p.His32Asp)
c.475C>G (n.475C>G)
gnomAD v4
2g.233767067C>TCA351071788UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.889C>T (p.His297Tyr)
c.901C>T (p.His301Tyr)
c.895C>T (p.His299Tyr)
c.898C>T (p.His300Tyr)
c.94C>T (p.His32Tyr)
c.475C>T (n.475C>T)
2g.233767068A=CA1335894709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.890A= (p.His297=)
c.902A= (p.His301=)
c.896A= (p.His299=)
c.899A= (p.His300=)
c.95A= (p.His32=)
c.476A= (n.476A=)
2g.233767068A>CCA351071790UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.890A>C (p.His297Pro)
c.902A>C (p.His301Pro)
c.896A>C (p.His299Pro)
c.899A>C (p.His300Pro)
c.95A>C (p.His32Pro)
c.476A>C (n.476A>C)
2g.233767068A>GCA67595091UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.890A>G (p.His297Arg)
c.902A>G (p.His301Arg)
c.896A>G (p.His299Arg)
c.899A>G (p.His300Arg)
c.95A>G (p.His32Arg)
c.476A>G (n.476A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767068A>TCA351071793UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.890A>T (p.His297Leu)
c.902A>T (p.His301Leu)
c.896A>T (p.His299Leu)
c.899A>T (p.His300Leu)
c.95A>T (p.His32Leu)
c.476A>T (n.476A>T)
2g.233767069T>ACA351071797UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.891T>A (p.His297Gln)
c.903T>A (p.His301Gln)
c.897T>A (p.His299Gln)
c.900T>A (p.His300Gln)
c.96T>A (p.His32Gln)
c.477T>A (n.477T>A)
2g.233767069T>CCA2179923UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.891T>C (p.His297=)
c.903T>C (p.His301=)
c.897T>C (p.His299=)
c.900T>C (p.His300=)
c.96T>C (p.His32=)
c.477T>C (n.477T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767069T>GCA351071796UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.891T>G (p.His297Gln)
c.903T>G (p.His301Gln)
c.897T>G (p.His299Gln)
c.900T>G (p.His300Gln)
c.96T>G (p.His32Gln)
c.477T>G (n.477T>G)
2g.233767069T=CA1335894710UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.891T= (p.His297=)
c.903T= (p.His301=)
c.897T= (p.His299=)
c.900T= (p.His300=)
c.96T= (p.His32=)
c.477T= (n.477T=)
2g.233767070G>ACA351071802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.892G>A (p.Gly298Arg)
c.904G>A (p.Gly302Arg)
c.898G>A (p.Gly300Arg)
c.901G>A (p.Gly301Arg)
c.97G>A (p.Gly33Arg)
c.478G>A (n.478G>A)
2g.233767070G>CCA351071798UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.892G>C (p.Gly298Arg)
c.904G>C (p.Gly302Arg)
c.898G>C (p.Gly300Arg)
c.901G>C (p.Gly301Arg)
c.97G>C (p.Gly33Arg)
c.478G>C (n.478G>C)
2g.233767070G>TCA351071799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.892G>T (p.Gly298Ter)
c.904G>T (p.Gly302Ter)
c.898G>T (p.Gly300Ter)
c.901G>T (p.Gly301Ter)
c.97G>T (p.Gly33Ter)
c.478G>T (n.478G>T)
2g.233767071G>ACA351071809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.893G>A (p.Gly298Glu)
c.905G>A (p.Gly302Glu)
c.899G>A (p.Gly300Glu)
c.902G>A (p.Gly301Glu)
c.98G>A (p.Gly33Glu)
c.479G>A (n.479G>A)
dbSNP gnomAD v4
2g.233767071G>CCA351071810UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.893G>C (p.Gly298Ala)
c.905G>C (p.Gly302Ala)
c.899G>C (p.Gly300Ala)
c.902G>C (p.Gly301Ala)
c.98G>C (p.Gly33Ala)
c.479G>C (n.479G>C)
gnomAD v4
2g.233767071G=CA1335894711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.893G= (p.Gly298=)
c.905G= (p.Gly302=)
c.899G= (p.Gly300=)
c.902G= (p.Gly301=)
c.98G= (p.Gly33=)
c.479G= (n.479G=)
2g.233767071G>TCA351071813UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.893G>T (p.Gly298Val)
c.905G>T (p.Gly302Val)
c.899G>T (p.Gly300Val)
c.902G>T (p.Gly301Val)
c.98G>T (p.Gly33Val)
c.479G>T (n.479G>T)
gnomAD v4
2g.233767072A>CCA431855524UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>C (p.Gly298=)
c.906A>C (p.Gly302=)
c.900A>C (p.Gly300=)
c.903A>C (p.Gly301=)
c.99A>C (p.Gly33=)
c.480A>C (n.480A>C)
2g.233767072A>GCA431855522UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>G (p.Gly298=)
c.906A>G (p.Gly302=)
c.900A>G (p.Gly300=)
c.903A>G (p.Gly301=)
c.99A>G (p.Gly33=)
c.480A>G (n.480A>G)
2g.233767072A>TCA431855520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>T (p.Gly298=)
c.906A>T (p.Gly302=)
c.900A>T (p.Gly300=)
c.903A>T (p.Gly301=)
c.99A>T (p.Gly33=)
c.480A>T (n.480A>T)
2g.233767073A=CA1335894712UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A= (p.Ile299=)
c.907A= (p.Ile303=)
c.901A= (p.Ile301=)
c.904A= (p.Ile302=)
c.100A= (p.Ile34=)
c.481A= (n.481A=)
2g.233767073A>CCA351071817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>C (p.Ile299Leu)
c.907A>C (p.Ile303Leu)
c.901A>C (p.Ile301Leu)
c.904A>C (p.Ile302Leu)
c.100A>C (p.Ile34Leu)
c.481A>C (n.481A>C)
2g.233767073A>GCA351071819UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>G (p.Ile299Val)
c.907A>G (p.Ile303Val)
c.901A>G (p.Ile301Val)
c.904A>G (p.Ile302Val)
c.100A>G (p.Ile34Val)
c.481A>G (n.481A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233767073A>TCA351071825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>T (p.Ile299Phe)
c.907A>T (p.Ile303Phe)
c.901A>T (p.Ile301Phe)
c.904A>T (p.Ile302Phe)
c.100A>T (p.Ile34Phe)
c.481A>T (n.481A>T)
2g.233767074T>ACA351071828UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>A (p.Ile299Asn)
c.908T>A (p.Ile303Asn)
c.902T>A (p.Ile301Asn)
c.905T>A (p.Ile302Asn)
c.101T>A (p.Ile34Asn)
c.482T>A (n.482T>A)
2g.233767074T>CCA2179924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>C (p.Ile299Thr)
c.908T>C (p.Ile303Thr)
c.902T>C (p.Ile301Thr)
c.905T>C (p.Ile302Thr)
c.101T>C (p.Ile34Thr)
c.482T>C (n.482T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767074T>GCA351071835UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>G (p.Ile299Ser)
c.908T>G (p.Ile303Ser)
c.902T>G (p.Ile301Ser)
c.905T>G (p.Ile302Ser)
c.101T>G (p.Ile34Ser)
c.482T>G (n.482T>G)
2g.233767074T=CA1335894713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T= (p.Ile299=)
c.908T= (p.Ile303=)
c.902T= (p.Ile301=)
c.905T= (p.Ile302=)
c.101T= (p.Ile34=)
c.482T= (n.482T=)
2g.233767075T>ACA431855543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>A (p.Ile299=)
c.909T>A (p.Ile303=)
c.903T>A (p.Ile301=)
c.906T>A (p.Ile302=)
c.102T>A (p.Ile34=)
c.483T>A (n.483T>A)
2g.233767075T>CCA431855542UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>C (p.Ile299=)
c.909T>C (p.Ile303=)
c.903T>C (p.Ile301=)
c.906T>C (p.Ile302=)
c.102T>C (p.Ile34=)
c.483T>C (n.483T>C)
2g.233767075T>GCA351071839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>G (p.Ile299Met)
c.909T>G (p.Ile303Met)
c.903T>G (p.Ile301Met)
c.906T>G (p.Ile302Met)
c.102T>G (p.Ile34Met)
c.483T>G (n.483T>G)
2g.233767076G>ACA2179925UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>A (p.Val300Met)
c.910G>A (p.Val304Met)
c.904G>A (p.Val302Met)
c.907G>A (p.Val303Met)
c.103G>A (p.Val35Met)
c.484G>A (n.484G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767076G>CCA351071844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>C (p.Val300Leu)
c.910G>C (p.Val304Leu)
c.904G>C (p.Val302Leu)
c.907G>C (p.Val303Leu)
c.103G>C (p.Val35Leu)
c.484G>C (n.484G>C)
2g.233767076G=CA1335894714UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G= (p.Val300=)
c.910G= (p.Val304=)
c.904G= (p.Val302=)
c.907G= (p.Val303=)
c.103G= (p.Val35=)
c.484G= (n.484G=)
2g.233767076G>TCA351071846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>T (p.Val300Leu)
c.910G>T (p.Val304Leu)
c.904G>T (p.Val302Leu)
c.907G>T (p.Val303Leu)
c.103G>T (p.Val35Leu)
c.484G>T (n.484G>T)
2g.233767077T>ACA351071850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>A (p.Val300Glu)
c.911T>A (p.Val304Glu)
c.905T>A (p.Val302Glu)
c.908T>A (p.Val303Glu)
c.104T>A (p.Val35Glu)
c.485T>A (n.485T>A)
2g.233767077T>CCA351071848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>C (p.Val300Ala)
c.911T>C (p.Val304Ala)
c.905T>C (p.Val302Ala)
c.908T>C (p.Val303Ala)
c.104T>C (p.Val35Ala)
c.485T>C (n.485T>C)
2g.233767077T>GCA351071849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>G (p.Val300Gly)
c.911T>G (p.Val304Gly)
c.905T>G (p.Val302Gly)
c.908T>G (p.Val303Gly)
c.104T>G (p.Val35Gly)
c.485T>G (n.485T>G)
2g.233767078G>ACA431855565UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>A (p.Val300=)
c.912G>A (p.Val304=)
c.906G>A (p.Val302=)
c.909G>A (p.Val303=)
c.105G>A (p.Val35=)
c.486G>A (n.486G>A)
2g.233767078G>CCA431855588UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>C (p.Val300=)
c.912G>C (p.Val304=)
c.906G>C (p.Val302=)
c.909G>C (p.Val303=)
c.105G>C (p.Val35=)
c.486G>C (n.486G>C)
2g.233767078G>TCA431855584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>T (p.Val300=)
c.912G>T (p.Val304=)
c.906G>T (p.Val302=)
c.909G>T (p.Val303=)
c.105G>T (p.Val35=)
c.486G>T (n.486G>T)
2g.233767079G>ACA351071851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>A (p.Val301Ile)
c.913G>A (p.Val305Ile)
c.907G>A (p.Val303Ile)
c.910G>A (p.Val304Ile)
c.106G>A (p.Val36Ile)
c.487G>A (n.487G>A)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767079G>CCA351071853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>C (p.Val301Leu)
c.913G>C (p.Val305Leu)
c.907G>C (p.Val303Leu)
c.910G>C (p.Val304Leu)
c.106G>C (p.Val36Leu)
c.487G>C (n.487G>C)
dbSNP
2g.233767079G=CA1335894715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G= (p.Val301=)
c.913G= (p.Val305=)
c.907G= (p.Val303=)
c.910G= (p.Val304=)
c.106G= (p.Val36=)
c.487G= (n.487G=)
2g.233767079G>TCA351071856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>T (p.Val301Phe)
c.913G>T (p.Val305Phe)
c.907G>T (p.Val303Phe)
c.910G>T (p.Val304Phe)
c.106G>T (p.Val36Phe)
c.487G>T (n.487G>T)
2g.233767080T>ACA351071860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>A (p.Val301Asp)
c.914T>A (p.Val305Asp)
c.908T>A (p.Val303Asp)
c.911T>A (p.Val304Asp)
c.107T>A (p.Val36Asp)
c.488T>A (n.488T>A)
2g.233767080T>CCA2179926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>C (p.Val301Ala)
c.914T>C (p.Val305Ala)
c.908T>C (p.Val303Ala)
c.911T>C (p.Val304Ala)
c.107T>C (p.Val36Ala)
c.488T>C (n.488T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767080T>GCA351071863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>G (p.Val301Gly)
c.914T>G (p.Val305Gly)
c.908T>G (p.Val303Gly)
c.911T>G (p.Val304Gly)
c.107T>G (p.Val36Gly)
c.488T>G (n.488T>G)
2g.233767080T=CA1335894716UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T= (p.Val301=)
c.914T= (p.Val305=)
c.908T= (p.Val303=)
c.911T= (p.Val304=)
c.107T= (p.Val36=)
c.488T= (n.488T=)
2g.233767083delCA2577284405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905del (p.Phe302SerfsTer?)
c.917del (p.Phe306SerfsTer?)
c.911del (p.Phe304SerfsTer?)
c.914del (p.Phe305SerfsTer?)
c.110del (p.Phe37SerfsTer?)
c.491del (n.491del)
2g.233767081T>ACA431855617UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>A (p.Val301=)
c.915T>A (p.Val305=)
c.909T>A (p.Val303=)
c.912T>A (p.Val304=)
c.108T>A (p.Val36=)
c.489T>A (n.489T>A)
2g.233767081T>CCA431855618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>C (p.Val301=)
c.915T>C (p.Val305=)
c.909T>C (p.Val303=)
c.912T>C (p.Val304=)
c.108T>C (p.Val36=)
c.489T>C (n.489T>C)
2g.233767081T>GCA431855615UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>G (p.Val301=)
c.915T>G (p.Val305=)
c.909T>G (p.Val303=)
c.912T>G (p.Val304=)
c.108T>G (p.Val36=)
c.489T>G (n.489T>G)
2g.233767084_233767089delCA645531509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906_911del (p.Phe302_Ser303del)
c.918_923del (p.Phe306_Ser307del)
c.912_917del (p.Phe304_Ser305del)
c.915_920del (p.Phe305_Ser306del)
c.111_116del (p.Phe37_Ser38del)
c.492_497del (n.492_497del)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767082T>ACA351071867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>A (p.Phe302Ile)
c.916T>A (p.Phe306Ile)
c.910T>A (p.Phe304Ile)
c.913T>A (p.Phe305Ile)
c.109T>A (p.Phe37Ile)
c.490T>A (n.490T>A)
2g.233767082T>CCA351071865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>C (p.Phe302Leu)
c.916T>C (p.Phe306Leu)
c.910T>C (p.Phe304Leu)
c.913T>C (p.Phe305Leu)
c.109T>C (p.Phe37Leu)
c.490T>C (n.490T>C)
2g.233767082T>GCA351071866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>G (p.Phe302Val)
c.916T>G (p.Phe306Val)
c.910T>G (p.Phe304Val)
c.913T>G (p.Phe305Val)
c.109T>G (p.Phe37Val)
c.490T>G (n.490T>G)
2g.233767083T>ACA351071869UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>A (p.Phe302Tyr)
c.917T>A (p.Phe306Tyr)
c.911T>A (p.Phe304Tyr)
c.914T>A (p.Phe305Tyr)
c.110T>A (p.Phe37Tyr)
c.491T>A (n.491T>A)
2g.233767083T>CCA351071872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>C (p.Phe302Ser)
c.917T>C (p.Phe306Ser)
c.911T>C (p.Phe304Ser)
c.914T>C (p.Phe305Ser)
c.110T>C (p.Phe37Ser)
c.491T>C (n.491T>C)
2g.233767083T>GCA351071874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>G (p.Phe302Cys)
c.917T>G (p.Phe306Cys)
c.911T>G (p.Phe304Cys)
c.914T>G (p.Phe305Cys)
c.110T>G (p.Phe37Cys)
c.491T>G (n.491T>G)
2g.233767086_233767087delCA2663716590UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908_909del (p.Ser303PhefsTer18)
c.920_921del (p.Ser307PhefsTer18)
c.914_915del (p.Ser305PhefsTer18)
c.917_918del (p.Ser306PhefsTer18)
c.113_114del (p.Ser38PhefsTer18)
c.494_495del (n.494_495del)
gnomAD v4
2g.233767084C>ACA351071877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>A (p.Phe302Leu)
c.918C>A (p.Phe306Leu)
c.912C>A (p.Phe304Leu)
c.915C>A (p.Phe305Leu)
c.111C>A (p.Phe37Leu)
c.492C>A (n.492C>A)
2g.233767084C>GCA351071880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>G (p.Phe302Leu)
c.918C>G (p.Phe306Leu)
c.912C>G (p.Phe304Leu)
c.915C>G (p.Phe305Leu)
c.111C>G (p.Phe37Leu)
c.492C>G (n.492C>G)
gnomAD v4
2g.233767084C>TCA431855653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>T (p.Phe302=)
c.918C>T (p.Phe306=)
c.912C>T (p.Phe304=)
c.915C>T (p.Phe305=)
c.111C>T (p.Phe37=)
c.492C>T (n.492C>T)
2g.233767085T>ACA351071883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>A (p.Ser303Thr)
c.919T>A (p.Ser307Thr)
c.913T>A (p.Ser305Thr)
c.916T>A (p.Ser306Thr)
c.112T>A (p.Ser38Thr)
c.493T>A (n.493T>A)
2g.233767085T>CCA351071886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>C (p.Ser303Pro)
c.919T>C (p.Ser307Pro)
c.913T>C (p.Ser305Pro)
c.916T>C (p.Ser306Pro)
c.112T>C (p.Ser38Pro)
c.493T>C (n.493T>C)
2g.233767085T>GCA351071884UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>G (p.Ser303Ala)
c.919T>G (p.Ser307Ala)
c.913T>G (p.Ser305Ala)
c.916T>G (p.Ser306Ala)
c.112T>G (p.Ser38Ala)
c.493T>G (n.493T>G)
2g.233767086C>ACA351071887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>A (p.Ser303Tyr)
c.920C>A (p.Ser307Tyr)
c.914C>A (p.Ser305Tyr)
c.917C>A (p.Ser306Tyr)
c.113C>A (p.Ser38Tyr)
c.494C>A (n.494C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233767086C=CA1335894717UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C= (p.Ser303=)
c.920C= (p.Ser307=)
c.914C= (p.Ser305=)
c.917C= (p.Ser306=)
c.113C= (p.Ser38=)
c.494C= (n.494C=)
2g.233767086C>GCA351071888UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>G (p.Ser303Cys)
c.920C>G (p.Ser307Cys)
c.914C>G (p.Ser305Cys)
c.917C>G (p.Ser306Cys)
c.113C>G (p.Ser38Cys)
c.494C>G (n.494C>G)
2g.233767086C>TCA351071889UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908C>T (p.Ser303Phe)
c.920C>T (p.Ser307Phe)
c.914C>T (p.Ser305Phe)
c.917C>T (p.Ser306Phe)
c.113C>T (p.Ser38Phe)
c.494C>T (n.494C>T)
ClinVar dbSNP
2g.233767087T>ACA431855672UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>A (p.Ser303=)
c.921T>A (p.Ser307=)
c.915T>A (p.Ser305=)
c.918T>A (p.Ser306=)
c.114T>A (p.Ser38=)
c.495T>A (n.495T>A)
gnomAD v4
2g.233767087T>CCA431855668UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>C (p.Ser303=)
c.921T>C (p.Ser307=)
c.915T>C (p.Ser305=)
c.918T>C (p.Ser306=)
c.114T>C (p.Ser38=)
c.495T>C (n.495T>C)
2g.233767087T>GCA431855673UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.909T>G (p.Ser303=)
c.921T>G (p.Ser307=)
c.915T>G (p.Ser305=)
c.918T>G (p.Ser306=)
c.114T>G (p.Ser38=)
c.495T>G (n.495T>G)
2g.233767088T>ACA351071890UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>A (p.Leu304Met)
c.922T>A (p.Leu308Met)
c.916T>A (p.Leu306Met)
c.919T>A (p.Leu307Met)
c.115T>A (p.Leu39Met)
c.496T>A (n.496T>A)
2g.233767088T>CCA431855674UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>C (p.Leu304=)
c.922T>C (p.Leu308=)
c.916T>C (p.Leu306=)
c.919T>C (p.Leu307=)
c.115T>C (p.Leu39=)
c.496T>C (n.496T>C)
2g.233767088T>GCA351071891UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.910T>G (p.Leu304Val)
c.922T>G (p.Leu308Val)
c.916T>G (p.Leu306Val)
c.919T>G (p.Leu307Val)
c.115T>G (p.Leu39Val)
c.496T>G (n.496T>G)
2g.233767089T>ACA351071892UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>A (p.Leu304Ter)
c.923T>A (p.Leu308Ter)
c.917T>A (p.Leu306Ter)
c.920T>A (p.Leu307Ter)
c.116T>A (p.Leu39Ter)
c.497T>A (n.497T>A)
2g.233767089T>CCA351071893UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>C (p.Leu304Ser)
c.923T>C (p.Leu308Ser)
c.917T>C (p.Leu306Ser)
c.920T>C (p.Leu307Ser)
c.116T>C (p.Leu39Ser)
c.497T>C (n.497T>C)
2g.233767089T>GCA351071895UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.911T>G (p.Leu304Trp)
c.923T>G (p.Leu308Trp)
c.917T>G (p.Leu306Trp)
c.920T>G (p.Leu307Trp)
c.116T>G (p.Leu39Trp)
c.497T>G (n.497T>G)
2g.233767090G>ACA431855682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>A (p.Leu304=)
c.924G>A (p.Leu308=)
c.918G>A (p.Leu306=)
c.921G>A (p.Leu307=)
c.117G>A (p.Leu39=)
c.498G>A (n.498G>A)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767090G>CCA351071896UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>C (p.Leu304Phe)
c.924G>C (p.Leu308Phe)
c.918G>C (p.Leu306Phe)
c.921G>C (p.Leu307Phe)
c.117G>C (p.Leu39Phe)
c.498G>C (n.498G>C)
2g.233767090G>TCA351071898UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.912G>T (p.Leu304Phe)
c.924G>T (p.Leu308Phe)
c.918G>T (p.Leu306Phe)
c.921G>T (p.Leu307Phe)
c.117G>T (p.Leu39Phe)
c.498G>T (n.498G>T)
2g.233767091G>ACA2179927UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>A (p.Gly305Arg)
c.925G>A (p.Gly309Arg)
c.919G>A (p.Gly307Arg)
c.922G>A (p.Gly308Arg)
c.118G>A (p.Gly40Arg)
c.499G>A (n.499G>A)
dbSNP ExAC gnomAD v2
2g.233767091G>CCA351071905UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>C (p.Gly305Arg)
c.925G>C (p.Gly309Arg)
c.919G>C (p.Gly307Arg)
c.922G>C (p.Gly308Arg)
c.118G>C (p.Gly40Arg)
c.499G>C (n.499G>C)
2g.233767091G=CA1335894718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G= (p.Gly305=)
c.925G= (p.Gly309=)
c.919G= (p.Gly307=)
c.922G= (p.Gly308=)
c.118G= (p.Gly40=)
c.499G= (n.499G=)
2g.233767091G>TCA351071909UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.913G>T (p.Gly305Ter)
c.925G>T (p.Gly309Ter)
c.919G>T (p.Gly307Ter)
c.922G>T (p.Gly308Ter)
c.118G>T (p.Gly40Ter)
c.499G>T (n.499G>T)
2g.233767092G>ACA122054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>A (p.Gly305Glu)
c.926G>A (p.Gly309Glu)
c.920G>A (p.Gly307Glu)
c.923G>A (p.Gly308Glu)
c.119G>A (p.Gly40Glu)
c.500G>A (n.500G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.233767092G>CCA351071912UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>C (p.Gly305Ala)
c.926G>C (p.Gly309Ala)
c.920G>C (p.Gly307Ala)
c.923G>C (p.Gly308Ala)
c.119G>C (p.Gly40Ala)
c.500G>C (n.500G>C)
2g.233767092G=CA1335894719UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G= (p.Gly305=)
c.926G= (p.Gly309=)
c.920G= (p.Gly307=)
c.923G= (p.Gly308=)
c.119G= (p.Gly40=)
c.500G= (n.500G=)
2g.233767092G>TCA351071916UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.914G>T (p.Gly305Val)
c.926G>T (p.Gly309Val)
c.920G>T (p.Gly307Val)
c.923G>T (p.Gly308Val)
c.119G>T (p.Gly40Val)
c.500G>T (n.500G>T)
2g.233767093A>CCA431855712UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>C (p.Gly305=)
c.927A>C (p.Gly309=)
c.921A>C (p.Gly307=)
c.924A>C (p.Gly308=)
c.120A>C (p.Gly40=)
c.501A>C (n.501A>C)
2g.233767093A>GCA431855709UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>G (p.Gly305=)
c.927A>G (p.Gly309=)
c.921A>G (p.Gly307=)
c.924A>G (p.Gly308=)
c.120A>G (p.Gly40=)
c.501A>G (n.501A>G)
2g.233767093A>TCA431855711UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.915A>T (p.Gly305=)
c.927A>T (p.Gly309=)
c.921A>T (p.Gly307=)
c.924A>T (p.Gly308=)
c.120A>T (p.Gly40=)
c.501A>T (n.501A>T)
2g.233767094T>ACA351071924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>A (p.Ser306Thr)
c.928T>A (p.Ser310Thr)
c.922T>A (p.Ser308Thr)
c.925T>A (p.Ser309Thr)
c.121T>A (p.Ser41Thr)
c.502T>A (n.502T>A)
gnomAD v4
2g.233767094T>CCA351071926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>C (p.Ser306Pro)
c.928T>C (p.Ser310Pro)
c.922T>C (p.Ser308Pro)
c.925T>C (p.Ser309Pro)
c.121T>C (p.Ser41Pro)
c.502T>C (n.502T>C)
gnomAD v4
2g.233767094T>GCA351071929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.916T>G (p.Ser306Ala)
c.928T>G (p.Ser310Ala)
c.922T>G (p.Ser308Ala)
c.925T>G (p.Ser309Ala)
c.121T>G (p.Ser41Ala)
c.502T>G (n.502T>G)
2g.233767095C>ACA351071932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>A (p.Ser306Ter)
c.929C>A (p.Ser310Ter)
c.923C>A (p.Ser308Ter)
c.926C>A (p.Ser309Ter)
c.122C>A (p.Ser41Ter)
c.503C>A (n.503C>A)
2g.233767095C=CA1335894720UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C= (p.Ser306=)
c.929C= (p.Ser310=)
c.923C= (p.Ser308=)
c.926C= (p.Ser309=)
c.122C= (p.Ser41=)
c.503C= (n.503C=)
2g.233767095C>GCA351071934UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>G (p.Ser306Ter)
c.929C>G (p.Ser310Ter)
c.923C>G (p.Ser308Ter)
c.926C>G (p.Ser309Ter)
c.122C>G (p.Ser41Ter)
c.503C>G (n.503C>G)
2g.233767095C>TCA351071937UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.917C>T (p.Ser306Leu)
c.929C>T (p.Ser310Leu)
c.923C>T (p.Ser308Leu)
c.926C>T (p.Ser309Leu)
c.122C>T (p.Ser41Leu)
c.503C>T (n.503C>T)
dbSNP gnomAD v2 gnomAD v4
2g.233767096A>CCA431855735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.918A>C (p.Ser306=)
c.930A>C (p.Ser310=)
c.924A>C (p.Ser308=)
c.927A>C (p.Ser309=)
c.123A>C (p.Ser41=)
c.504A>C (n.504A>C)
2g.233767096A>GCA431855745UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.918A>G (p.Ser306=)
c.930A>G (p.Ser310=)
c.924A>G (p.Ser308=)
c.927A>G (p.Ser309=)
c.123A>G (p.Ser41=)
c.504A>G (n.504A>G)
ClinVar
2g.233767096A>TCA431855748UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.918A>T (p.Ser306=)
c.930A>T (p.Ser310=)
c.924A>T (p.Ser308=)
c.927A>T (p.Ser309=)
c.123A>T (p.Ser41=)
c.504A>T (n.504A>T)
2g.233767097A=CA1335894721UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.919A= (p.Met307=)
c.931A= (p.Met311=)
c.925A= (p.Met309=)
c.928A= (p.Met310=)
c.124A= (p.Met42=)
c.505A= (n.505A=)
2g.233767097A>CCA351071946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.919A>C (p.Met307Leu)
c.931A>C (p.Met311Leu)
c.925A>C (p.Met309Leu)
c.928A>C (p.Met310Leu)
c.124A>C (p.Met42Leu)
c.505A>C (n.505A>C)
2g.233767097A>GCA351071949UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.919A>G (p.Met307Val)
c.931A>G (p.Met311Val)
c.925A>G (p.Met309Val)
c.928A>G (p.Met310Val)
c.124A>G (p.Met42Val)
c.505A>G (n.505A>G)
dbSNP gnomAD v4
2g.233767097A>TCA351071952UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.919A>T (p.Met307Leu)
c.931A>T (p.Met311Leu)
c.925A>T (p.Met309Leu)
c.928A>T (p.Met310Leu)
c.124A>T (p.Met42Leu)
c.505A>T (n.505A>T)
2g.233767098T>ACA351071956UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.920T>A (p.Met307Lys)
c.932T>A (p.Met311Lys)
c.926T>A (p.Met309Lys)
c.929T>A (p.Met310Lys)
c.125T>A (p.Met42Lys)
c.506T>A (n.506T>A)
2g.233767098T>CCA351071958UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.920T>C (p.Met307Thr)
c.932T>C (p.Met311Thr)
c.926T>C (p.Met309Thr)
c.929T>C (p.Met310Thr)
c.125T>C (p.Met42Thr)
c.506T>C (n.506T>C)
gnomAD v4
2g.233767098T>GCA351071961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.920T>G (p.Met307Arg)
c.932T>G (p.Met311Arg)
c.926T>G (p.Met309Arg)
c.929T>G (p.Met310Arg)
c.125T>G (p.Met42Arg)
c.506T>G (n.506T>G)
dbSNP
2g.233767098T=CA1335894722UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.920T= (p.Met307=)
c.932T= (p.Met311=)
c.926T= (p.Met309=)
c.929T= (p.Met310=)
c.125T= (p.Met42=)
c.506T= (n.506T=)
2g.233767099G>ACA351071963UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.921G>A (p.Met307Ile)
c.933G>A (p.Met311Ile)
c.927G>A (p.Met309Ile)
c.930G>A (p.Met310Ile)
c.126G>A (p.Met42Ile)
c.507G>A (n.507G>A)
2g.233767099G>CCA351071976UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.921G>C (p.Met307Ile)
c.933G>C (p.Met311Ile)
c.927G>C (p.Met309Ile)
c.930G>C (p.Met310Ile)
c.126G>C (p.Met42Ile)
c.507G>C (n.507G>C)
2g.233767099G>TCA351071975UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.921G>T (p.Met307Ile)
c.933G>T (p.Met311Ile)
c.927G>T (p.Met309Ile)
c.930G>T (p.Met310Ile)
c.126G>T (p.Met42Ile)
c.507G>T (n.507G>T)
2g.233767100delCA2499215799UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.922del (p.Val308SerfsTer?)
c.934del (p.Val312SerfsTer?)
c.928del (p.Val310SerfsTer?)
c.931del (p.Val311SerfsTer?)
c.127del (p.Val43SerfsTer?)
c.508del (n.508del)
ClinVar dbSNP
2g.233767100G>ACA351071977UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.922G>A (p.Val308Ile)
c.934G>A (p.Val312Ile)
c.928G>A (p.Val310Ile)
c.931G>A (p.Val311Ile)
c.127G>A (p.Val43Ile)
c.508G>A (n.508G>A)
dbSNP gnomAD v3 gnomAD v4
2g.233767100G>CCA351071978UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.922G>C (p.Val308Leu)
c.934G>C (p.Val312Leu)
c.928G>C (p.Val310Leu)
c.931G>C (p.Val311Leu)
c.127G>C (p.Val43Leu)
c.508G>C (n.508G>C)
2g.233767100G>TCA351071979UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.922G>T (p.Val308Phe)
c.934G>T (p.Val312Phe)
c.928G>T (p.Val310Phe)
c.931G>T (p.Val311Phe)
c.127G>T (p.Val43Phe)
c.508G>T (n.508G>T)
2g.233767101T>ACA351071981UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.923T>A (p.Val308Asp)
c.935T>A (p.Val312Asp)
c.929T>A (p.Val310Asp)
c.932T>A (p.Val311Asp)
c.128T>A (p.Val43Asp)
c.509T>A (n.509T>A)
2g.233767101T>CCA351071984UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.923T>C (p.Val308Ala)
c.935T>C (p.Val312Ala)
c.929T>C (p.Val310Ala)
c.932T>C (p.Val311Ala)
c.128T>C (p.Val43Ala)
c.509T>C (n.509T>C)
gnomAD v4
2g.233767101T>GCA351071986UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.923T>G (p.Val308Gly)
c.935T>G (p.Val312Gly)
c.929T>G (p.Val310Gly)
c.932T>G (p.Val311Gly)
c.128T>G (p.Val43Gly)
c.509T>G (n.509T>G)
2g.233767103_233767104delCA2663716610UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.925_926del (p.Ser309ArgfsTer12)
c.937_938del (p.Ser313ArgfsTer12)
c.931_932del (p.Ser311ArgfsTer12)
c.934_935del (p.Ser312ArgfsTer12)
c.130_131del (p.Ser44ArgfsTer12)
c.511_512del (n.511_512del)
gnomAD v4
2g.233767102C>ACA431855805UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.924C>A (p.Val308=)
c.936C>A (p.Val312=)
c.930C>A (p.Val310=)
c.933C>A (p.Val311=)
c.129C>A (p.Val43=)
c.510C>A (n.510C>A)
ClinVar dbSNP
2g.233767102C=CA1335894723UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.924C= (p.Val308=)
c.936C= (p.Val312=)
c.930C= (p.Val310=)
c.933C= (p.Val311=)
c.129C= (p.Val43=)
c.510C= (n.510C=)
2g.233767102C>GCA431855802UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.924C>G (p.Val308=)
c.936C>G (p.Val312=)
c.930C>G (p.Val310=)
c.933C>G (p.Val311=)
c.129C>G (p.Val43=)
c.510C>G (n.510C>G)
2g.233767102C>TCA431855809UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.924C>T (p.Val308=)
c.936C>T (p.Val312=)
c.930C>T (p.Val310=)
c.933C>T (p.Val311=)
c.129C>T (p.Val43=)
c.510C>T (n.510C>T)
gnomAD v4
2g.233767103T>ACA351071996UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.925T>A (p.Ser309Thr)
c.937T>A (p.Ser313Thr)
c.931T>A (p.Ser311Thr)
c.934T>A (p.Ser312Thr)
c.130T>A (p.Ser44Thr)
c.511T>A (n.511T>A)
2g.233767103T>CCA351071994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.925T>C (p.Ser309Pro)
c.937T>C (p.Ser313Pro)
c.931T>C (p.Ser311Pro)
c.934T>C (p.Ser312Pro)
c.130T>C (p.Ser44Pro)
c.511T>C (n.511T>C)
2g.233767103T>GCA351071989UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.925T>G (p.Ser309Ala)
c.937T>G (p.Ser313Ala)
c.931T>G (p.Ser311Ala)
c.934T>G (p.Ser312Ala)
c.130T>G (p.Ser44Ala)
c.511T>G (n.511T>G)
gnomAD v4
2g.233767104C>ACA351071998UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.926C>A (p.Ser309Ter)
c.938C>A (p.Ser313Ter)
c.932C>A (p.Ser311Ter)
c.935C>A (p.Ser312Ter)
c.131C>A (p.Ser44Ter)
c.512C>A (n.512C>A)
2g.233767104C=CA1335894724UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.926C= (p.Ser309=)
c.938C= (p.Ser313=)
c.932C= (p.Ser311=)
c.935C= (p.Ser312=)
c.131C= (p.Ser44=)
c.512C= (n.512C=)
2g.233767104C>GCA351072000UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.926C>G (p.Ser309Ter)
c.938C>G (p.Ser313Ter)
c.932C>G (p.Ser311Ter)
c.935C>G (p.Ser312Ter)
c.131C>G (p.Ser44Ter)
c.512C>G (n.512C>G)
2g.233767104C>TCA351072003UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.926C>T (p.Ser309Leu)
c.938C>T (p.Ser313Leu)
c.932C>T (p.Ser311Leu)
c.935C>T (p.Ser312Leu)
c.131C>T (p.Ser44Leu)
c.512C>T (n.512C>T)
dbSNP gnomAD v4
2g.233767105A>CCA431855827UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.927A>C (p.Ser309=)
c.939A>C (p.Ser313=)
c.933A>C (p.Ser311=)
c.936A>C (p.Ser312=)
c.132A>C (p.Ser44=)
c.513A>C (n.513A>C)
2g.233767105A>GCA431855833UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.927A>G (p.Ser309=)
c.939A>G (p.Ser313=)
c.933A>G (p.Ser311=)
c.936A>G (p.Ser312=)
c.132A>G (p.Ser44=)
c.513A>G (n.513A>G)
2g.233767105A>TCA431855830UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.927A>T (p.Ser309=)
c.939A>T (p.Ser313=)
c.933A>T (p.Ser311=)
c.936A>T (p.Ser312=)
c.132A>T (p.Ser44=)
c.513A>T (n.513A>T)
2g.233767106G>ACA351072008UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.928G>A (p.Glu310Lys)
c.940G>A (p.Glu314Lys)
c.934G>A (p.Glu312Lys)
c.937G>A (p.Glu313Lys)
c.133G>A (p.Glu45Lys)
c.514G>A (n.514G>A)
2g.233767106G>CCA351072010UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.928G>C (p.Glu310Gln)
c.940G>C (p.Glu314Gln)
c.934G>C (p.Glu312Gln)
c.937G>C (p.Glu313Gln)
c.133G>C (p.Glu45Gln)
c.514G>C (n.514G>C)
2g.233767106G>TCA351072016UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.928G>T (p.Glu310Ter)
c.940G>T (p.Glu314Ter)
c.934G>T (p.Glu312Ter)
c.937G>T (p.Glu313Ter)
c.133G>T (p.Glu45Ter)
c.514G>T (n.514G>T)
2g.233767107A>CCA351072020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.929A>C (p.Glu310Ala)
c.941A>C (p.Glu314Ala)
c.935A>C (p.Glu312Ala)
c.938A>C (p.Glu313Ala)
c.134A>C (p.Glu45Ala)
c.515A>C (n.515A>C)
2g.233767107A>GCA351072028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.929A>G (p.Glu310Gly)
c.941A>G (p.Glu314Gly)
c.935A>G (p.Glu312Gly)
c.938A>G (p.Glu313Gly)
c.134A>G (p.Glu45Gly)
c.515A>G (n.515A>G)
2g.233767107A>TCA351072026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.929A>T (p.Glu310Val)
c.941A>T (p.Glu314Val)
c.935A>T (p.Glu312Val)
c.938A>T (p.Glu313Val)
c.134A>T (p.Glu45Val)
c.515A>T (n.515A>T)
2g.233767108A>CCA351072030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.930A>C (p.Glu310Asp)
c.942A>C (p.Glu314Asp)
c.936A>C (p.Glu312Asp)
c.939A>C (p.Glu313Asp)
c.135A>C (p.Glu45Asp)
c.516A>C (n.516A>C)
2g.233767108A>GCA431855856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.930A>G (p.Glu310=)
c.942A>G (p.Glu314=)
c.936A>G (p.Glu312=)
c.939A>G (p.Glu313=)
c.135A>G (p.Glu45=)
c.516A>G (n.516A>G)
2g.233767108A>TCA351072031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.930A>T (p.Glu310Asp)
c.942A>T (p.Glu314Asp)
c.936A>T (p.Glu312Asp)
c.939A>T (p.Glu313Asp)
c.135A>T (p.Glu45Asp)
c.516A>T (n.516A>T)
gnomAD v4
2g.233767109A=CA1335894725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.931A= (p.Ile311=)
c.943A= (p.Ile315=)
c.937A= (p.Ile313=)
c.940A= (p.Ile314=)
c.136A= (p.Ile46=)
c.517A= (n.517A=)
2g.233767109A>CCA351072035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.931A>C (p.Ile311Leu)
c.943A>C (p.Ile315Leu)
c.937A>C (p.Ile313Leu)
c.940A>C (p.Ile314Leu)
c.136A>C (p.Ile46Leu)
c.517A>C (n.517A>C)
dbSNP
2g.233767109A>GCA351072039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.931A>G (p.Ile311Val)
c.943A>G (p.Ile315Val)
c.937A>G (p.Ile313Val)
c.940A>G (p.Ile314Val)
c.136A>G (p.Ile46Val)
c.517A>G (n.517A>G)
dbSNP
2g.233767109A>TCA351072041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.931A>T (p.Ile311Phe)
c.943A>T (p.Ile315Phe)
c.937A>T (p.Ile313Phe)
c.940A>T (p.Ile314Phe)
c.136A>T (p.Ile46Phe)
c.517A>T (n.517A>T)
2g.233767110T>ACA351072051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.932T>A (p.Ile311Asn)
c.944T>A (p.Ile315Asn)
c.938T>A (p.Ile313Asn)
c.941T>A (p.Ile314Asn)
c.137T>A (p.Ile46Asn)
c.518T>A (n.518T>A)
2g.233767110T>CCA351072053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.932T>C (p.Ile311Thr)
c.944T>C (p.Ile315Thr)
c.938T>C (p.Ile313Thr)
c.941T>C (p.Ile314Thr)
c.137T>C (p.Ile46Thr)
c.518T>C (n.518T>C)
2g.233767110T>GCA351072056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.932T>G (p.Ile311Ser)
c.944T>G (p.Ile315Ser)
c.938T>G (p.Ile313Ser)
c.941T>G (p.Ile314Ser)
c.137T>G (p.Ile46Ser)
c.518T>G (n.518T>G)
2g.233767111T>ACA431855881UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.933T>A (p.Ile311=)
c.945T>A (p.Ile315=)
c.939T>A (p.Ile313=)
c.942T>A (p.Ile314=)
c.138T>A (p.Ile46=)
c.519T>A (n.519T>A)
2g.233767111T>CCA431855885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.933T>C (p.Ile311=)
c.945T>C (p.Ile315=)
c.939T>C (p.Ile313=)
c.942T>C (p.Ile314=)
c.138T>C (p.Ile46=)
c.519T>C (n.519T>C)
2g.233767111T>GCA351072059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.933T>G (p.Ile311Met)
c.945T>G (p.Ile315Met)
c.939T>G (p.Ile313Met)
c.942T>G (p.Ile314Met)
c.138T>G (p.Ile46Met)
c.519T>G (n.519T>G)
2g.233767112C>ACA351072061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.934C>A (p.Pro312Thr)
c.946C>A (p.Pro316Thr)
c.940C>A (p.Pro314Thr)
c.943C>A (p.Pro315Thr)
c.139C>A (p.Pro47Thr)
c.520C>A (n.520C>A)
dbSNP
2g.233767112C=CA1335894726UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.934C= (p.Pro312=)
c.946C= (p.Pro316=)
c.940C= (p.Pro314=)
c.943C= (p.Pro315=)
c.139C= (p.Pro47=)
c.520C= (n.520C=)
2g.233767112C>GCA351072063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.934C>G (p.Pro312Ala)
c.946C>G (p.Pro316Ala)
c.940C>G (p.Pro314Ala)
c.943C>G (p.Pro315Ala)
c.139C>G (p.Pro47Ala)
c.520C>G (n.520C>G)
gnomAD v4
2g.233767112C>TCA2179928UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.934C>T (p.Pro312Ser)
c.946C>T (p.Pro316Ser)
c.940C>T (p.Pro314Ser)
c.943C>T (p.Pro315Ser)
c.139C>T (p.Pro47Ser)
c.520C>T (n.520C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767113C>ACA351072070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.935C>A (p.Pro312Gln)
c.947C>A (p.Pro316Gln)
c.941C>A (p.Pro314Gln)
c.944C>A (p.Pro315Gln)
c.140C>A (p.Pro47Gln)
c.521C>A (n.521C>A)
2g.233767113C>GCA351072075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.935C>G (p.Pro312Arg)
c.947C>G (p.Pro316Arg)
c.941C>G (p.Pro314Arg)
c.944C>G (p.Pro315Arg)
c.140C>G (p.Pro47Arg)
c.521C>G (n.521C>G)
2g.233767113C>TCA351072073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.935C>T (p.Pro312Leu)
c.947C>T (p.Pro316Leu)
c.941C>T (p.Pro314Leu)
c.944C>T (p.Pro315Leu)
c.140C>T (p.Pro47Leu)
c.521C>T (n.521C>T)
2g.233767114A>CCA431855899UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.936A>C (p.Pro312=)
c.948A>C (p.Pro316=)
c.942A>C (p.Pro314=)
c.945A>C (p.Pro315=)
c.141A>C (p.Pro47=)
c.522A>C (n.522A>C)
2g.233767114A>GCA431855906UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.936A>G (p.Pro312=)
c.948A>G (p.Pro316=)
c.942A>G (p.Pro314=)
c.945A>G (p.Pro315=)
c.141A>G (p.Pro47=)
c.522A>G (n.522A>G)
2g.233767114A>TCA431855902UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.936A>T (p.Pro312=)
c.948A>T (p.Pro316=)
c.942A>T (p.Pro314=)
c.945A>T (p.Pro315=)
c.141A>T (p.Pro47=)
c.522A>T (n.522A>T)
2g.233767115G>ACA351072077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.937G>A (p.Glu313Lys)
c.949G>A (p.Glu317Lys)
c.943G>A (p.Glu315Lys)
c.946G>A (p.Glu316Lys)
c.142G>A (p.Glu48Lys)
c.523G>A (n.523G>A)
2g.233767115G>CCA351072080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.937G>C (p.Glu313Gln)
c.949G>C (p.Glu317Gln)
c.943G>C (p.Glu315Gln)
c.946G>C (p.Glu316Gln)
c.142G>C (p.Glu48Gln)
c.523G>C (n.523G>C)
2g.233767115G>TCA351072082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.937G>T (p.Glu313Ter)
c.949G>T (p.Glu317Ter)
c.943G>T (p.Glu315Ter)
c.946G>T (p.Glu316Ter)
c.142G>T (p.Glu48Ter)
c.523G>T (n.523G>T)
2g.233767116A>CCA351072086UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.938A>C (p.Glu313Ala)
c.950A>C (p.Glu317Ala)
c.944A>C (p.Glu315Ala)
c.947A>C (p.Glu316Ala)
c.143A>C (p.Glu48Ala)
c.524A>C (n.524A>C)
2g.233767116A>GCA351072087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.938A>G (p.Glu313Gly)
c.950A>G (p.Glu317Gly)
c.944A>G (p.Glu315Gly)
c.947A>G (p.Glu316Gly)
c.143A>G (p.Glu48Gly)
c.524A>G (n.524A>G)
2g.233767116A>TCA351072089UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.938A>T (p.Glu313Val)
c.950A>T (p.Glu317Val)
c.944A>T (p.Glu315Val)
c.947A>T (p.Glu316Val)
c.143A>T (p.Glu48Val)
c.524A>T (n.524A>T)
2g.233767117G>ACA431855946UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.939G>A (p.Glu313=)
c.951G>A (p.Glu317=)
c.945G>A (p.Glu315=)
c.948G>A (p.Glu316=)
c.144G>A (p.Glu48=)
c.525G>A (n.525G>A)
2g.233767117G>CCA351072092UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.939G>C (p.Glu313Asp)
c.951G>C (p.Glu317Asp)
c.945G>C (p.Glu315Asp)
c.948G>C (p.Glu316Asp)
c.144G>C (p.Glu48Asp)
c.525G>C (n.525G>C)
2g.233767117G>TCA351072094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.939G>T (p.Glu313Asp)
c.951G>T (p.Glu317Asp)
c.945G>T (p.Glu315Asp)
c.948G>T (p.Glu316Asp)
c.144G>T (p.Glu48Asp)
c.525G>T (n.525G>T)
2g.233767118A=CA1335894727UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.940A= (p.Lys314=)
c.952A= (p.Lys318=)
c.946A= (p.Lys316=)
c.949A= (p.Lys317=)
c.145A= (p.Lys49=)
c.526A= (n.526A=)
2g.233767118A>CCA351072097UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.940A>C (p.Lys314Gln)
c.952A>C (p.Lys318Gln)
c.946A>C (p.Lys316Gln)
c.949A>C (p.Lys317Gln)
c.145A>C (p.Lys49Gln)
c.526A>C (n.526A>C)
2g.233767118A>GCA67595127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.940A>G (p.Lys314Glu)
c.952A>G (p.Lys318Glu)
c.946A>G (p.Lys316Glu)
c.949A>G (p.Lys317Glu)
c.145A>G (p.Lys49Glu)
c.526A>G (n.526A>G)
dbSNP gnomAD v3 gnomAD v4
2g.233767118A>TCA351072104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.940A>T (p.Lys314Ter)
c.952A>T (p.Lys318Ter)
c.946A>T (p.Lys316Ter)
c.949A>T (p.Lys317Ter)
c.145A>T (p.Lys49Ter)
c.526A>T (n.526A>T)
2g.233767119A>CCA351072107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.941A>C (p.Lys314Thr)
c.953A>C (p.Lys318Thr)
c.947A>C (p.Lys316Thr)
c.950A>C (p.Lys317Thr)
c.146A>C (p.Lys49Thr)
c.527A>C (n.527A>C)
gnomAD v4
2g.233767119A>GCA351072110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.941A>G (p.Lys314Arg)
c.953A>G (p.Lys318Arg)
c.947A>G (p.Lys316Arg)
c.950A>G (p.Lys317Arg)
c.146A>G (p.Lys49Arg)
c.527A>G (n.527A>G)
2g.233767119A>TCA351072112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.941A>T (p.Lys314Met)
c.953A>T (p.Lys318Met)
c.947A>T (p.Lys316Met)
c.950A>T (p.Lys317Met)
c.146A>T (p.Lys49Met)
c.527A>T (n.527A>T)
2g.233767120G>ACA431855973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.942G>A (p.Lys314=)
c.954G>A (p.Lys318=)
c.948G>A (p.Lys316=)
c.951G>A (p.Lys317=)
c.147G>A (p.Lys49=)
c.528G>A (n.528G>A)
gnomAD v4
2g.233767120G>CCA351072115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.942G>C (p.Lys314Asn)
c.954G>C (p.Lys318Asn)
c.948G>C (p.Lys316Asn)
c.951G>C (p.Lys317Asn)
c.147G>C (p.Lys49Asn)
c.528G>C (n.528G>C)
2g.233767120G>TCA351072127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.942G>T (p.Lys314Asn)
c.954G>T (p.Lys318Asn)
c.948G>T (p.Lys316Asn)
c.951G>T (p.Lys317Asn)
c.147G>T (p.Lys49Asn)
c.528G>T (n.528G>T)
2g.233767121A>CCA351072130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.943A>C (p.Lys315Gln)
c.955A>C (p.Lys319Gln)
c.949A>C (p.Lys317Gln)
c.952A>C (p.Lys318Gln)
c.148A>C (p.Lys50Gln)
c.529A>C (n.529A>C)
2g.233767121A>GCA351072132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.943A>G (p.Lys315Glu)
c.955A>G (p.Lys319Glu)
c.949A>G (p.Lys317Glu)
c.952A>G (p.Lys318Glu)
c.148A>G (p.Lys50Glu)
c.529A>G (n.529A>G)
2g.233767121A>TCA351072134UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.943A>T (p.Lys315Ter)
c.955A>T (p.Lys319Ter)
c.949A>T (p.Lys317Ter)
c.952A>T (p.Lys318Ter)
c.148A>T (p.Lys50Ter)
c.529A>T (n.529A>T)
2g.233767122A>CCA351072137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.944A>C (p.Lys315Thr)
c.956A>C (p.Lys319Thr)
c.950A>C (p.Lys317Thr)
c.953A>C (p.Lys318Thr)
c.149A>C (p.Lys50Thr)
c.530A>C (n.530A>C)
2g.233767122A>GCA351072140UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.944A>G (p.Lys315Arg)
c.956A>G (p.Lys319Arg)
c.950A>G (p.Lys317Arg)
c.953A>G (p.Lys318Arg)
c.149A>G (p.Lys50Arg)
c.530A>G (n.530A>G)
2g.233767122A>TCA351072143UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.944A>T (p.Lys315Ile)
c.956A>T (p.Lys319Ile)
c.950A>T (p.Lys317Ile)
c.953A>T (p.Lys318Ile)
c.149A>T (p.Lys50Ile)
c.530A>T (n.530A>T)
2g.233767123A>CCA351072145UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.945A>C (p.Lys315Asn)
c.957A>C (p.Lys319Asn)
c.951A>C (p.Lys317Asn)
c.954A>C (p.Lys318Asn)
c.150A>C (p.Lys50Asn)
c.531A>C (n.531A>C)
2g.233767123A>GCA431855994UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.945A>G (p.Lys315=)
c.957A>G (p.Lys319=)
c.951A>G (p.Lys317=)
c.954A>G (p.Lys318=)
c.150A>G (p.Lys50=)
c.531A>G (n.531A>G)
2g.233767123A>TCA351072147UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.945A>T (p.Lys315Asn)
c.957A>T (p.Lys319Asn)
c.951A>T (p.Lys317Asn)
c.954A>T (p.Lys318Asn)
c.150A>T (p.Lys50Asn)
c.531A>T (n.531A>T)
2g.233767124G>ACA351072152UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.946G>A (p.Ala316Thr)
c.958G>A (p.Ala320Thr)
c.952G>A (p.Ala318Thr)
c.955G>A (p.Ala319Thr)
c.151G>A (p.Ala51Thr)
c.532G>A (n.532G>A)
2g.233767124G>CCA67595130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.946G>C (p.Ala316Pro)
c.958G>C (p.Ala320Pro)
c.952G>C (p.Ala318Pro)
c.955G>C (p.Ala319Pro)
c.151G>C (p.Ala51Pro)
c.532G>C (n.532G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233767124G=CA1335894728UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.946G= (p.Ala316=)
c.958G= (p.Ala320=)
c.952G= (p.Ala318=)
c.955G= (p.Ala319=)
c.151G= (p.Ala51=)
c.532G= (n.532G=)
2g.233767124G>TCA351072156UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.946G>T (p.Ala316Ser)
c.958G>T (p.Ala320Ser)
c.952G>T (p.Ala318Ser)
c.955G>T (p.Ala319Ser)
c.151G>T (p.Ala51Ser)
c.532G>T (n.532G>T)
2g.233767125C>ACA351072160UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.947C>A (p.Ala316Asp)
c.959C>A (p.Ala320Asp)
c.953C>A (p.Ala318Asp)
c.956C>A (p.Ala319Asp)
c.152C>A (p.Ala51Asp)
c.533C>A (n.533C>A)
2g.233767125C=CA1335894729UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.947C= (p.Ala316=)
c.959C= (p.Ala320=)
c.953C= (p.Ala318=)
c.956C= (p.Ala319=)
c.152C= (p.Ala51=)
c.533C= (n.533C=)
2g.233767125C>GCA351072163UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.947C>G (p.Ala316Gly)
c.959C>G (p.Ala320Gly)
c.953C>G (p.Ala318Gly)
c.956C>G (p.Ala319Gly)
c.152C>G (p.Ala51Gly)
c.533C>G (n.533C>G)
2g.233767125C>TCA2179929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.947C>T (p.Ala316Val)
c.959C>T (p.Ala320Val)
c.953C>T (p.Ala318Val)
c.956C>T (p.Ala319Val)
c.152C>T (p.Ala51Val)
c.533C>T (n.533C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767126T>ACA431856021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.948T>A (p.Ala316=)
c.960T>A (p.Ala320=)
c.954T>A (p.Ala318=)
c.957T>A (p.Ala319=)
c.153T>A (p.Ala51=)
c.534T>A (n.534T>A)
2g.233767126T>CCA431856026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.948T>C (p.Ala316=)
c.960T>C (p.Ala320=)
c.954T>C (p.Ala318=)
c.957T>C (p.Ala319=)
c.153T>C (p.Ala51=)
c.534T>C (n.534T>C)
2g.233767126T>GCA431856019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.948T>G (p.Ala316=)
c.960T>G (p.Ala320=)
c.954T>G (p.Ala318=)
c.957T>G (p.Ala319=)
c.153T>G (p.Ala51=)
c.534T>G (n.534T>G)
2g.233767127A=CA1335894730UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.949A= (p.Met317=)
c.961A= (p.Met321=)
c.955A= (p.Met319=)
c.958A= (p.Met320=)
c.154A= (p.Met52=)
c.535A= (n.535A=)
2g.233767127A>CCA351072167UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.949A>C (p.Met317Leu)
c.961A>C (p.Met321Leu)
c.955A>C (p.Met319Leu)
c.958A>C (p.Met320Leu)
c.154A>C (p.Met52Leu)
c.535A>C (n.535A>C)
2g.233767127A>GCA2179930UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.949A>G (p.Met317Val)
c.961A>G (p.Met321Val)
c.955A>G (p.Met319Val)
c.958A>G (p.Met320Val)
c.154A>G (p.Met52Val)
c.535A>G (n.535A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767127A>TCA351072169UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.949A>T (p.Met317Leu)
c.961A>T (p.Met321Leu)
c.955A>T (p.Met319Leu)
c.958A>T (p.Met320Leu)
c.154A>T (p.Met52Leu)
c.535A>T (n.535A>T)
2g.233767128T>ACA351072174UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.950T>A (p.Met317Lys)
c.962T>A (p.Met321Lys)
c.956T>A (p.Met319Lys)
c.959T>A (p.Met320Lys)
c.155T>A (p.Met52Lys)
c.536T>A (n.536T>A)
2g.233767128T>CCA351072179UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.950T>C (p.Met317Thr)
c.962T>C (p.Met321Thr)
c.956T>C (p.Met319Thr)
c.959T>C (p.Met320Thr)
c.155T>C (p.Met52Thr)
c.536T>C (n.536T>C)
dbSNP gnomAD v4
2g.233767128T>GCA351072176UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.950T>G (p.Met317Arg)
c.962T>G (p.Met321Arg)
c.956T>G (p.Met319Arg)
c.959T>G (p.Met320Arg)
c.155T>G (p.Met52Arg)
c.536T>G (n.536T>G)
2g.233767128_233767129insACA2577284406UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.950_951insA (p.Met317IlefsTer5)
c.962_963insA (p.Met321IlefsTer5)
c.956_957insA (p.Met319IlefsTer5)
c.959_960insA (p.Met320IlefsTer5)
c.155_156insA (p.Met52IlefsTer5)
c.536_537insA (n.536_537insA)
2g.233767129G>ACA351072182UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.951G>A (p.Met317Ile)
c.963G>A (p.Met321Ile)
c.957G>A (p.Met319Ile)
c.960G>A (p.Met320Ile)
c.156G>A (p.Met52Ile)
c.537G>A (n.537G>A)
2g.233767129G>CCA351072185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.951G>C (p.Met317Ile)
c.963G>C (p.Met321Ile)
c.957G>C (p.Met319Ile)
c.960G>C (p.Met320Ile)
c.156G>C (p.Met52Ile)
c.537G>C (n.537G>C)
2g.233767129G>TCA351072186UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.951G>T (p.Met317Ile)
c.963G>T (p.Met321Ile)
c.957G>T (p.Met319Ile)
c.960G>T (p.Met320Ile)
c.156G>T (p.Met52Ile)
c.537G>T (n.537G>T)
2g.233767130G>ACA351072187UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.952G>A (p.Ala318Thr)
c.964G>A (p.Ala322Thr)
c.958G>A (p.Ala320Thr)
c.961G>A (p.Ala321Thr)
c.157G>A (p.Ala53Thr)
c.538G>A (n.538G>A)
gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767130G>CCA351072188UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.952G>C (p.Ala318Pro)
c.964G>C (p.Ala322Pro)
c.958G>C (p.Ala320Pro)
c.961G>C (p.Ala321Pro)
c.157G>C (p.Ala53Pro)
c.538G>C (n.538G>C)
2g.233767130G>TCA351072189UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.952G>T (p.Ala318Ser)
c.964G>T (p.Ala322Ser)
c.958G>T (p.Ala320Ser)
c.961G>T (p.Ala321Ser)
c.157G>T (p.Ala53Ser)
c.538G>T (n.538G>T)
2g.233767131C>ACA351072191UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.953C>A (p.Ala318Glu)
c.965C>A (p.Ala322Glu)
c.959C>A (p.Ala320Glu)
c.962C>A (p.Ala321Glu)
c.158C>A (p.Ala53Glu)
c.539C>A (n.539C>A)
2g.233767131C>GCA351072194UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.953C>G (p.Ala318Gly)
c.965C>G (p.Ala322Gly)
c.959C>G (p.Ala320Gly)
c.962C>G (p.Ala321Gly)
c.158C>G (p.Ala53Gly)
c.539C>G (n.539C>G)
2g.233767131C>TCA351072205UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.953C>T (p.Ala318Val)
c.965C>T (p.Ala322Val)
c.959C>T (p.Ala320Val)
c.962C>T (p.Ala321Val)
c.158C>T (p.Ala53Val)
c.539C>T (n.539C>T)
gnomAD v4
2g.233767132A>CCA431856105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.954A>C (p.Ala318=)
c.966A>C (p.Ala322=)
c.960A>C (p.Ala320=)
c.963A>C (p.Ala321=)
c.159A>C (p.Ala53=)
c.540A>C (n.540A>C)
2g.233767132A>GCA431856103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.954A>G (p.Ala318=)
c.966A>G (p.Ala322=)
c.960A>G (p.Ala320=)
c.963A>G (p.Ala321=)
c.159A>G (p.Ala53=)
c.540A>G (n.540A>G)
2g.233767132A>TCA431856100UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.954A>T (p.Ala318=)
c.966A>T (p.Ala322=)
c.960A>T (p.Ala320=)
c.963A>T (p.Ala321=)
c.159A>T (p.Ala53=)
c.540A>T (n.540A>T)
2g.233767133A=CA1335894731UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.955A= (p.Ile319=)
c.967A= (p.Ile323=)
c.961A= (p.Ile321=)
c.964A= (p.Ile322=)
c.160A= (p.Ile54=)
c.541A= (n.541A=)
2g.233767133A>CCA351072208UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.955A>C (p.Ile319Leu)
c.967A>C (p.Ile323Leu)
c.961A>C (p.Ile321Leu)
c.964A>C (p.Ile322Leu)
c.160A>C (p.Ile54Leu)
c.541A>C (n.541A>C)
2g.233767133A>GCA2179931UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.955A>G (p.Ile319Val)
c.967A>G (p.Ile323Val)
c.961A>G (p.Ile321Val)
c.964A>G (p.Ile322Val)
c.160A>G (p.Ile54Val)
c.541A>G (n.541A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767133A>TCA351072217UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.955A>T (p.Ile319Phe)
c.967A>T (p.Ile323Phe)
c.961A>T (p.Ile321Phe)
c.964A>T (p.Ile322Phe)
c.160A>T (p.Ile54Phe)
c.541A>T (n.541A>T)
2g.233767134T>ACA351072226UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.956T>A (p.Ile319Asn)
c.968T>A (p.Ile323Asn)
c.962T>A (p.Ile321Asn)
c.965T>A (p.Ile322Asn)
c.161T>A (p.Ile54Asn)
c.542T>A (n.542T>A)
2g.233767134T>CCA67595163UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.956T>C (p.Ile319Thr)
c.968T>C (p.Ile323Thr)
c.962T>C (p.Ile321Thr)
c.965T>C (p.Ile322Thr)
c.161T>C (p.Ile54Thr)
c.542T>C (n.542T>C)
dbSNP
2g.233767134T>GCA351072222UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.956T>G (p.Ile319Ser)
c.968T>G (p.Ile323Ser)
c.962T>G (p.Ile321Ser)
c.965T>G (p.Ile322Ser)
c.161T>G (p.Ile54Ser)
c.542T>G (n.542T>G)
2g.233767134T=CA1335894732UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.956T= (p.Ile319=)
c.968T= (p.Ile323=)
c.962T= (p.Ile321=)
c.965T= (p.Ile322=)
c.161T= (p.Ile54=)
c.542T= (n.542T=)
2g.233767135T>ACA431856132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.957T>A (p.Ile319=)
c.969T>A (p.Ile323=)
c.963T>A (p.Ile321=)
c.966T>A (p.Ile322=)
c.162T>A (p.Ile54=)
c.543T>A (n.543T>A)
2g.233767135T>CCA431856153UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.957T>C (p.Ile319=)
c.969T>C (p.Ile323=)
c.963T>C (p.Ile321=)
c.966T>C (p.Ile322=)
c.162T>C (p.Ile54=)
c.543T>C (n.543T>C)
2g.233767135T>GCA351072227UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.957T>G (p.Ile319Met)
c.969T>G (p.Ile323Met)
c.963T>G (p.Ile321Met)
c.966T>G (p.Ile322Met)
c.162T>G (p.Ile54Met)
c.543T>G (n.543T>G)
2g.233767136G>ACA351072228UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.958G>A (p.Ala320Thr)
c.970G>A (p.Ala324Thr)
c.964G>A (p.Ala322Thr)
c.967G>A (p.Ala323Thr)
c.163G>A (p.Ala55Thr)
c.544G>A (n.544G>A)
2g.233767136G>CCA351072229UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.958G>C (p.Ala320Pro)
c.970G>C (p.Ala324Pro)
c.964G>C (p.Ala322Pro)
c.967G>C (p.Ala323Pro)
c.163G>C (p.Ala55Pro)
c.544G>C (n.544G>C)
2g.233767136G=CA1335894733UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.958G= (p.Ala320=)
c.970G= (p.Ala324=)
c.964G= (p.Ala322=)
c.967G= (p.Ala323=)
c.163G= (p.Ala55=)
c.544G= (n.544G=)
2g.233767136G>TCA2179932UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.958G>T (p.Ala320Ser)
c.970G>T (p.Ala324Ser)
c.964G>T (p.Ala322Ser)
c.967G>T (p.Ala323Ser)
c.163G>T (p.Ala55Ser)
c.544G>T (n.544G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767137C>ACA351072231UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.959C>A (p.Ala320Asp)
c.971C>A (p.Ala324Asp)
c.965C>A (p.Ala322Asp)
c.968C>A (p.Ala323Asp)
c.164C>A (p.Ala55Asp)
c.545C>A (n.545C>A)
COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767137C=CA1335894734UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.959C= (p.Ala320=)
c.971C= (p.Ala324=)
c.965C= (p.Ala322=)
c.968C= (p.Ala323=)
c.164C= (p.Ala55=)
c.545C= (n.545C=)
2g.233767137C>GCA351072234UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.959C>G (p.Ala320Gly)
c.971C>G (p.Ala324Gly)
c.965C>G (p.Ala322Gly)
c.968C>G (p.Ala323Gly)
c.164C>G (p.Ala55Gly)
c.545C>G (n.545C>G)
2g.233767137C>TCA2179933UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.959C>T (p.Ala320Val)
c.971C>T (p.Ala324Val)
c.965C>T (p.Ala322Val)
c.968C>T (p.Ala323Val)
c.164C>T (p.Ala55Val)
c.545C>T (n.545C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched