Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233767037T>A | CA351071610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767037T>C | CA351071609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767037T>G | CA351071604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767038T>A | CA351071613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767038T>C | CA351071615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767038T>G | CA351071617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767039T>A | CA351071619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767039T>C | CA431855185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767039T>G | CA351071625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767039T= | CA1335894693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.861T= (p.Phe287=) c.873T= (p.Phe291=) c.867T= (p.Phe289=) c.870T= (p.Phe290=) c.66T= (p.Phe22=) c.447T= (n.447T=) | |
2 | g.233767040G>A | CA351071627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767040G>C | CA351071630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767040G= | CA1335894694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.862G= (p.Glu288=) c.874G= (p.Glu292=) c.868G= (p.Glu290=) c.871G= (p.Glu291=) c.67G= (p.Glu23=) c.448G= (n.448G=) | |
2 | g.233767040G>T | CA351071633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767041A>C | CA351071636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767041A>G | CA351071639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767041A>T | CA351071641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767042A>C | CA351071644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767042A>G | CA431855235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767042A>T | CA351071646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767043G>A | CA351071651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767043G>C | CA351071653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767043G>T | CA351071649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767045_233767056del | CA2663716532 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767044C>A | CA2179920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767044C= | CA1335894695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.866C= (p.Ala289=) c.878C= (p.Ala293=) c.872C= (p.Ala291=) c.875C= (p.Ala292=) c.71C= (p.Ala24=) c.452C= (n.452C=) | |
2 | g.233767044C>G | CA351071656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767044C>T | CA351071658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767045C>A | CA431855261 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767045C= | CA1335894697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.867C= (p.Ala289=) c.879C= (p.Ala293=) c.873C= (p.Ala291=) c.876C= (p.Ala292=) c.72C= (p.Ala24=) c.453C= (n.453C=) | |
2 | g.233767045C>G | CA67595069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767045C>T | CA431855262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767045_233767046delinsCT | CA1335894698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767045_233767058delinsCTACATTAATGCTT | CA1335894696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767045_233767059delinsCTACATTAATGCTTC | CA1335894699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767046del | CA2179921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767046T>A | CA351071661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767046T>C | CA351071662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767046T>G | CA351071663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767046_233767058del | CA766269958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767046_233767059delinsA | CA122006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767047A>C | CA351071666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767047A>G | CA351071668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767047A>T | CA351071671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767047_233767059delinsACATTAATGCTTC | CA1335894700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767048C>A | CA351071674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767048C= | CA1335894701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.870C= (p.Tyr290=) c.882C= (p.Tyr294=) c.876C= (p.Tyr292=) c.879C= (p.Tyr293=) c.75C= (p.Tyr25=) c.456C= (n.456C=) | |
2 | g.233767048C>G | CA351071676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767048C>T | CA431855301 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767048_233767059del | CA2179922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767049A>C | CA351071683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767049A>G | CA351071680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767049A>T | CA351071682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767050T>A | CA351071686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767050T>C | CA67595088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767050T>G | CA351071698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767050T= | CA1335894702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.872T= (p.Ile291=) c.884T= (p.Ile295=) c.878T= (p.Ile293=) c.881T= (p.Ile294=) c.77T= (p.Ile26=) c.458T= (n.458T=) | |
2 | g.233767051del | CA2663716561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767051T>A | CA431855338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767051T>C | CA431855333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767051T>G | CA351071700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767052A>C | CA351071703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767052A>G | CA351071704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767052A>T | CA351071705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767053A>C | CA351071707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767053A>G | CA351071709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767053A>T | CA351071710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767054T>A | CA351071711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767054T>C | CA431855356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767054T>G | CA351071713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767054T= | CA1335894703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.876T= (p.Asn292=) c.888T= (p.Asn296=) c.882T= (p.Asn294=) c.885T= (p.Asn295=) c.81T= (p.Asn27=) c.462T= (n.462T=) | |
2 | g.233767055G>A | CA351071720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767055G>C | CA351071718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767055G>T | CA351071715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767056C>A | CA351071722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767056C>G | CA351071727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767056C>T | CA351071730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767057T>A | CA431855388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767057T>C | CA431855389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767057T>G | CA431855383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767057T= | CA1335894704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.879T= (p.Ala293=) c.891T= (p.Ala297=) c.885T= (p.Ala295=) c.888T= (p.Ala296=) c.84T= (p.Ala28=) c.465T= (n.465T=) | |
2 | g.233767058T>A | CA351071733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767058T>C | CA351071735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767058T>G | CA351071743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767059C>A | CA67595089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767059C= | CA1335894705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.881C= (p.Ser294=) c.893C= (p.Ser298=) c.887C= (p.Ser296=) c.890C= (p.Ser297=) c.86C= (p.Ser29=) c.467C= (n.467C=) | |
2 | g.233767059C>G | CA351071751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767059C>T | CA351071754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767060T>A | CA431855424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767060T>C | CA431855421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767060T>G | CA431855427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767060T= | CA1335894706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.882T= (p.Ser294=) c.894T= (p.Ser298=) c.888T= (p.Ser296=) c.891T= (p.Ser297=) c.87T= (p.Ser29=) c.468T= (n.468T=) | |
2 | g.233767061G>A | CA351071755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767061G>C | CA351071758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767061G>T | CA351071760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767062G>A | CA351071762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767062G>C | CA351071763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767062G= | CA1335894707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.884G= (p.Gly295=) c.896G= (p.Gly299=) c.890G= (p.Gly297=) c.893G= (p.Gly298=) c.89G= (p.Gly30=) c.470G= (n.470G=) | |
2 | g.233767062G>T | CA351071761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767063A= | CA1335894708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.885A= (p.Gly295=) c.897A= (p.Gly299=) c.891A= (p.Gly297=) c.894A= (p.Gly298=) c.90A= (p.Gly30=) c.471A= (n.471A=) | |
2 | g.233767063A>C | CA431855459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767063A>G | CA431855458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767063A>T | CA67595090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767064G>A | CA351071765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767064G>C | CA351071766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767064G>T | CA351071768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767065A>C | CA351071770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767065A>G | CA351071771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767065A>T | CA351071775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767066A>C | CA351071779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767066A>G | CA431855483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767066A>T | CA351071781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767067C>A | CA351071784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767067C>G | CA351071786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767067C>T | CA351071788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767068A= | CA1335894709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A= (p.His297=) c.902A= (p.His301=) c.896A= (p.His299=) c.899A= (p.His300=) c.95A= (p.His32=) c.476A= (n.476A=) | |
2 | g.233767068A>C | CA351071790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767068A>G | CA67595091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767068A>T | CA351071793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767069T>A | CA351071797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767069T>C | CA2179923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767069T>G | CA351071796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767069T= | CA1335894710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T= (p.His297=) c.903T= (p.His301=) c.897T= (p.His299=) c.900T= (p.His300=) c.96T= (p.His32=) c.477T= (n.477T=) | |
2 | g.233767070G>A | CA351071802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767070G>C | CA351071798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767070G>T | CA351071799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767071G>A | CA351071809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767071G>C | CA351071810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767071G= | CA1335894711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G= (p.Gly298=) c.905G= (p.Gly302=) c.899G= (p.Gly300=) c.902G= (p.Gly301=) c.98G= (p.Gly33=) c.479G= (n.479G=) | |
2 | g.233767071G>T | CA351071813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767072A>C | CA431855524 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767072A>G | CA431855522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767072A>T | CA431855520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767073A= | CA1335894712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A= (p.Ile299=) c.907A= (p.Ile303=) c.901A= (p.Ile301=) c.904A= (p.Ile302=) c.100A= (p.Ile34=) c.481A= (n.481A=) | |
2 | g.233767073A>C | CA351071817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767073A>G | CA351071819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767073A>T | CA351071825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767074T>A | CA351071828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767074T>C | CA2179924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767074T>G | CA351071835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767074T= | CA1335894713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T= (p.Ile299=) c.908T= (p.Ile303=) c.902T= (p.Ile301=) c.905T= (p.Ile302=) c.101T= (p.Ile34=) c.482T= (n.482T=) | |
2 | g.233767075T>A | CA431855543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767075T>C | CA431855542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767075T>G | CA351071839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767076G>A | CA2179925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767076G>C | CA351071844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767076G= | CA1335894714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.898G= (p.Val300=) c.910G= (p.Val304=) c.904G= (p.Val302=) c.907G= (p.Val303=) c.103G= (p.Val35=) c.484G= (n.484G=) | |
2 | g.233767076G>T | CA351071846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767077T>A | CA351071850 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767077T>C | CA351071848 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767077T>G | CA351071849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767078G>A | CA431855565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767078G>C | CA431855588 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767078G>T | CA431855584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767079G>A | CA351071851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767079G>C | CA351071853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767079G= | CA1335894715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.901G= (p.Val301=) c.913G= (p.Val305=) c.907G= (p.Val303=) c.910G= (p.Val304=) c.106G= (p.Val36=) c.487G= (n.487G=) | |
2 | g.233767079G>T | CA351071856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T>A | CA351071860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T>C | CA2179926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767080T>G | CA351071863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767080T= | CA1335894716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.902T= (p.Val301=) c.914T= (p.Val305=) c.908T= (p.Val303=) c.911T= (p.Val304=) c.107T= (p.Val36=) c.488T= (n.488T=) | |
2 | g.233767083del | CA2577284405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.905del (p.Phe302SerfsTer?) c.917del (p.Phe306SerfsTer?) c.911del (p.Phe304SerfsTer?) c.914del (p.Phe305SerfsTer?) c.110del (p.Phe37SerfsTer?) c.491del (n.491del) | |
2 | g.233767081T>A | CA431855617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767081T>C | CA431855618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767081T>G | CA431855615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767084_233767089del | CA645531509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767082T>A | CA351071867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767082T>C | CA351071865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767082T>G | CA351071866 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>A | CA351071869 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>C | CA351071872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767083T>G | CA351071874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086_233767087del | CA2663716590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767084C>A | CA351071877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767084C>G | CA351071880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767084C>T | CA431855653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>A | CA351071883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>C | CA351071886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767085T>G | CA351071884 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086C>A | CA351071887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767086C= | CA1335894717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.908C= (p.Ser303=) c.920C= (p.Ser307=) c.914C= (p.Ser305=) c.917C= (p.Ser306=) c.113C= (p.Ser38=) c.494C= (n.494C=) | |
2 | g.233767086C>G | CA351071888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767086C>T | CA351071889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767087T>A | CA431855672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767087T>C | CA431855668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767087T>G | CA431855673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>A | CA351071890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>C | CA431855674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767088T>G | CA351071891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>A | CA351071892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>C | CA351071893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767089T>G | CA351071895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767090G>A | CA431855682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767090G>C | CA351071896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767090G>T | CA351071898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767091G>A | CA2179927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767091G>C | CA351071905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767091G= | CA1335894718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.913G= (p.Gly305=) c.925G= (p.Gly309=) c.919G= (p.Gly307=) c.922G= (p.Gly308=) c.118G= (p.Gly40=) c.499G= (n.499G=) | |
2 | g.233767091G>T | CA351071909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767092G>A | CA122054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767092G>C | CA351071912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767092G= | CA1335894719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.914G= (p.Gly305=) c.926G= (p.Gly309=) c.920G= (p.Gly307=) c.923G= (p.Gly308=) c.119G= (p.Gly40=) c.500G= (n.500G=) | |
2 | g.233767092G>T | CA351071916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767093A>C | CA431855712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767093A>G | CA431855709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767093A>T | CA431855711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767094T>A | CA351071924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767094T>C | CA351071926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767094T>G | CA351071929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767095C>A | CA351071932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767095C= | CA1335894720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.917C= (p.Ser306=) c.929C= (p.Ser310=) c.923C= (p.Ser308=) c.926C= (p.Ser309=) c.122C= (p.Ser41=) c.503C= (n.503C=) | |
2 | g.233767095C>G | CA351071934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767095C>T | CA351071937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767096A>C | CA431855735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767096A>G | CA431855745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767096A>T | CA431855748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767097A= | CA1335894721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.919A= (p.Met307=) c.931A= (p.Met311=) c.925A= (p.Met309=) c.928A= (p.Met310=) c.124A= (p.Met42=) c.505A= (n.505A=) | |
2 | g.233767097A>C | CA351071946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767097A>G | CA351071949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767097A>T | CA351071952 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767098T>A | CA351071956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767098T>C | CA351071958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767098T>G | CA351071961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767098T= | CA1335894722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.920T= (p.Met307=) c.932T= (p.Met311=) c.926T= (p.Met309=) c.929T= (p.Met310=) c.125T= (p.Met42=) c.506T= (n.506T=) | |
2 | g.233767099G>A | CA351071963 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767099G>C | CA351071976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767099G>T | CA351071975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767100del | CA2499215799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767100G>A | CA351071977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767100G>C | CA351071978 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767100G>T | CA351071979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767101T>A | CA351071981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767101T>C | CA351071984 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767101T>G | CA351071986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767103_233767104del | CA2663716610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767102C>A | CA431855805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767102C= | CA1335894723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.924C= (p.Val308=) c.936C= (p.Val312=) c.930C= (p.Val310=) c.933C= (p.Val311=) c.129C= (p.Val43=) c.510C= (n.510C=) | |
2 | g.233767102C>G | CA431855802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767102C>T | CA431855809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767103T>A | CA351071996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767103T>C | CA351071994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767103T>G | CA351071989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767104C>A | CA351071998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767104C= | CA1335894724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.926C= (p.Ser309=) c.938C= (p.Ser313=) c.932C= (p.Ser311=) c.935C= (p.Ser312=) c.131C= (p.Ser44=) c.512C= (n.512C=) | |
2 | g.233767104C>G | CA351072000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767104C>T | CA351072003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767105A>C | CA431855827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767105A>G | CA431855833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767105A>T | CA431855830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767106G>A | CA351072008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767106G>C | CA351072010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767106G>T | CA351072016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767107A>C | CA351072020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767107A>G | CA351072028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767107A>T | CA351072026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767108A>C | CA351072030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767108A>G | CA431855856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767108A>T | CA351072031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767109A= | CA1335894725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.931A= (p.Ile311=) c.943A= (p.Ile315=) c.937A= (p.Ile313=) c.940A= (p.Ile314=) c.136A= (p.Ile46=) c.517A= (n.517A=) | |
2 | g.233767109A>C | CA351072035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767109A>G | CA351072039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767109A>T | CA351072041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767110T>A | CA351072051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767110T>C | CA351072053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767110T>G | CA351072056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767111T>A | CA431855881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767111T>C | CA431855885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767111T>G | CA351072059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767112C>A | CA351072061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767112C= | CA1335894726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.934C= (p.Pro312=) c.946C= (p.Pro316=) c.940C= (p.Pro314=) c.943C= (p.Pro315=) c.139C= (p.Pro47=) c.520C= (n.520C=) | |
2 | g.233767112C>G | CA351072063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767112C>T | CA2179928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767113C>A | CA351072070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767113C>G | CA351072075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767113C>T | CA351072073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767114A>C | CA431855899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767114A>G | CA431855906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767114A>T | CA431855902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767115G>A | CA351072077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767115G>C | CA351072080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767115G>T | CA351072082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767116A>C | CA351072086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767116A>G | CA351072087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767116A>T | CA351072089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767117G>A | CA431855946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767117G>C | CA351072092 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767117G>T | CA351072094 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767118A= | CA1335894727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.940A= (p.Lys314=) c.952A= (p.Lys318=) c.946A= (p.Lys316=) c.949A= (p.Lys317=) c.145A= (p.Lys49=) c.526A= (n.526A=) | |
2 | g.233767118A>C | CA351072097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767118A>G | CA67595127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767118A>T | CA351072104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767119A>C | CA351072107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767119A>G | CA351072110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767119A>T | CA351072112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767120G>A | CA431855973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767120G>C | CA351072115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767120G>T | CA351072127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767121A>C | CA351072130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767121A>G | CA351072132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767121A>T | CA351072134 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767122A>C | CA351072137 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767122A>G | CA351072140 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767122A>T | CA351072143 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767123A>C | CA351072145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767123A>G | CA431855994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767123A>T | CA351072147 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767124G>A | CA351072152 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767124G>C | CA67595130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767124G= | CA1335894728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.946G= (p.Ala316=) c.958G= (p.Ala320=) c.952G= (p.Ala318=) c.955G= (p.Ala319=) c.151G= (p.Ala51=) c.532G= (n.532G=) | |
2 | g.233767124G>T | CA351072156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767125C>A | CA351072160 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767125C= | CA1335894729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.947C= (p.Ala316=) c.959C= (p.Ala320=) c.953C= (p.Ala318=) c.956C= (p.Ala319=) c.152C= (p.Ala51=) c.533C= (n.533C=) | |
2 | g.233767125C>G | CA351072163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767125C>T | CA2179929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767126T>A | CA431856021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767126T>C | CA431856026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767126T>G | CA431856019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767127A= | CA1335894730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.949A= (p.Met317=) c.961A= (p.Met321=) c.955A= (p.Met319=) c.958A= (p.Met320=) c.154A= (p.Met52=) c.535A= (n.535A=) | |
2 | g.233767127A>C | CA351072167 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767127A>G | CA2179930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767127A>T | CA351072169 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767128T>A | CA351072174 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767128T>C | CA351072179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767128T>G | CA351072176 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767128_233767129insA | CA2577284406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767129G>A | CA351072182 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767129G>C | CA351072185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767129G>T | CA351072186 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767130G>A | CA351072187 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767130G>C | CA351072188 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767130G>T | CA351072189 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767131C>A | CA351072191 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767131C>G | CA351072194 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767131C>T | CA351072205 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767132A>C | CA431856105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767132A>G | CA431856103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767132A>T | CA431856100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767133A= | CA1335894731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.955A= (p.Ile319=) c.967A= (p.Ile323=) c.961A= (p.Ile321=) c.964A= (p.Ile322=) c.160A= (p.Ile54=) c.541A= (n.541A=) | |
2 | g.233767133A>C | CA351072208 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767133A>G | CA2179931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767133A>T | CA351072217 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767134T>A | CA351072226 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767134T>C | CA67595163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767134T>G | CA351072222 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767134T= | CA1335894732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.956T= (p.Ile319=) c.968T= (p.Ile323=) c.962T= (p.Ile321=) c.965T= (p.Ile322=) c.161T= (p.Ile54=) c.542T= (n.542T=) | |
2 | g.233767135T>A | CA431856132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767135T>C | CA431856153 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767135T>G | CA351072227 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767136G>A | CA351072228 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767136G>C | CA351072229 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767136G= | CA1335894733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.958G= (p.Ala320=) c.970G= (p.Ala324=) c.964G= (p.Ala322=) c.967G= (p.Ala323=) c.163G= (p.Ala55=) c.544G= (n.544G=) | |
2 | g.233767136G>T | CA2179932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767137C>A | CA351072231 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767137C= | CA1335894734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.959C= (p.Ala320=) c.971C= (p.Ala324=) c.965C= (p.Ala322=) c.968C= (p.Ala323=) c.164C= (p.Ala55=) c.545C= (n.545C=) | |
2 | g.233767137C>G | CA351072234 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767137C>T | CA2179933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |