Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233768268_233768302dup | CA1043571392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124_1158dup (p.Met387PhefsTer12) c.1136_1170dup (p.Met391PhefsTer12) c.1130_1164dup (p.Met389PhefsTer12) c.1133_1167dup (p.Met390PhefsTer12) c.329_363dup (p.Met122PhefsTer12) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768287T>A | CA351074147 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1143T>A (p.Asn381Lys) c.1155T>A (p.Asn385Lys) c.1149T>A (p.Asn383Lys) c.1152T>A (p.Asn384Lys) c.348T>A (p.Asn116Lys) | |
2 | g.233768287T>C | CA431858671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1143T>C (p.Asn381=) c.1155T>C (p.Asn385=) c.1149T>C (p.Asn383=) c.1152T>C (p.Asn384=) c.348T>C (p.Asn116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768287T>G | CA351074150 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1143T>G (p.Asn381Lys) c.1155T>G (p.Asn385Lys) c.1149T>G (p.Asn383Lys) c.1152T>G (p.Asn384Lys) c.348T>G (p.Asn116Lys) | |
2 | g.233768287T= | CA1335895268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1143T= (p.Asn381=) c.1155T= (p.Asn385=) c.1149T= (p.Asn383=) c.1152T= (p.Asn384=) c.348T= (p.Asn116=) | |
2 | g.233768288G>A | CA351074153 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1144G>A (p.Gly382Ser) c.1156G>A (p.Gly386Ser) c.1150G>A (p.Gly384Ser) c.1153G>A (p.Gly385Ser) c.349G>A (p.Gly117Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768288G>C | CA351074156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1144G>C (p.Gly382Arg) c.1156G>C (p.Gly386Arg) c.1150G>C (p.Gly384Arg) c.1153G>C (p.Gly385Arg) c.349G>C (p.Gly117Arg) | |
2 | g.233768288G= | CA1335895269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1144G= (p.Gly382=) c.1156G= (p.Gly386=) c.1150G= (p.Gly384=) c.1153G= (p.Gly385=) c.349G= (p.Gly117=) | |
2 | g.233768288G>T | CA351074152 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1144G>T (p.Gly382Cys) c.1156G>T (p.Gly386Cys) c.1150G>T (p.Gly384Cys) c.1153G>T (p.Gly385Cys) c.349G>T (p.Gly117Cys) | |
2 | g.233768289G>A | CA351074161 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1145G>A (p.Gly382Asp) c.1157G>A (p.Gly386Asp) c.1151G>A (p.Gly384Asp) c.1154G>A (p.Gly385Asp) c.350G>A (p.Gly117Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768289G>C | CA351074159 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1145G>C (p.Gly382Ala) c.1157G>C (p.Gly386Ala) c.1151G>C (p.Gly384Ala) c.1154G>C (p.Gly385Ala) c.350G>C (p.Gly117Ala) | |
2 | g.233768289G>T | CA351074160 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1145G>T (p.Gly382Val) c.1157G>T (p.Gly386Val) c.1151G>T (p.Gly384Val) c.1154G>T (p.Gly385Val) c.350G>T (p.Gly117Val) | |
2 | g.233768290C>A | CA431858703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1146C>A (p.Gly382=) c.1158C>A (p.Gly386=) c.1152C>A (p.Gly384=) c.1155C>A (p.Gly385=) c.351C>A (p.Gly117=) | |
2 | g.233768290C= | CA1335895270 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1146C= (p.Gly382=) c.1158C= (p.Gly386=) c.1152C= (p.Gly384=) c.1155C= (p.Gly385=) c.351C= (p.Gly117=) | |
2 | g.233768290C>G | CA431858705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1146C>G (p.Gly382=) c.1158C>G (p.Gly386=) c.1152C>G (p.Gly384=) c.1155C>G (p.Gly385=) c.351C>G (p.Gly117=) | |
2 | g.233768290C>T | CA2180019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1146C>T (p.Gly382=) c.1158C>T (p.Gly386=) c.1152C>T (p.Gly384=) c.1155C>T (p.Gly385=) c.351C>T (p.Gly117=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768291G>A | CA2180020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1147G>A (p.Val383Ile) c.1159G>A (p.Val387Ile) c.1153G>A (p.Val385Ile) c.1156G>A (p.Val386Ile) c.352G>A (p.Val118Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768291G>C | CA351074164 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1147G>C (p.Val383Leu) c.1159G>C (p.Val387Leu) c.1153G>C (p.Val385Leu) c.1156G>C (p.Val386Leu) c.352G>C (p.Val118Leu) | |
2 | g.233768291G= | CA1335895271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1147G= (p.Val383=) c.1159G= (p.Val387=) c.1153G= (p.Val385=) c.1156G= (p.Val386=) c.352G= (p.Val118=) | |
2 | g.233768291G>T | CA351074165 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1147G>T (p.Val383Phe) c.1159G>T (p.Val387Phe) c.1153G>T (p.Val385Phe) c.1156G>T (p.Val386Phe) c.352G>T (p.Val118Phe) | ClinVar gnomAD v4 |
2 | g.233768292T>A | CA351074168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1148T>A (p.Val383Asp) c.1160T>A (p.Val387Asp) c.1154T>A (p.Val385Asp) c.1157T>A (p.Val386Asp) c.353T>A (p.Val118Asp) | |
2 | g.233768292T>C | CA351074171 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1148T>C (p.Val383Ala) c.1160T>C (p.Val387Ala) c.1154T>C (p.Val385Ala) c.1157T>C (p.Val386Ala) c.353T>C (p.Val118Ala) | |
2 | g.233768292T>G | CA351074173 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1148T>G (p.Val383Gly) c.1160T>G (p.Val387Gly) c.1154T>G (p.Val385Gly) c.1157T>G (p.Val386Gly) c.353T>G (p.Val118Gly) | |
2 | g.233768293T>A | CA431858731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1149T>A (p.Val383=) c.1161T>A (p.Val387=) c.1155T>A (p.Val385=) c.1158T>A (p.Val386=) c.354T>A (p.Val118=) | |
2 | g.233768293T>C | CA431858733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1149T>C (p.Val383=) c.1161T>C (p.Val387=) c.1155T>C (p.Val385=) c.1158T>C (p.Val386=) c.354T>C (p.Val118=) | |
2 | g.233768293T>G | CA431858725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1149T>G (p.Val383=) c.1161T>G (p.Val387=) c.1155T>G (p.Val385=) c.1158T>G (p.Val386=) c.354T>G (p.Val118=) | |
2 | g.233768294C>A | CA351074183 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1150C>A (p.Pro384Thr) c.1162C>A (p.Pro388Thr) c.1156C>A (p.Pro386Thr) c.1159C>A (p.Pro387Thr) c.355C>A (p.Pro119Thr) | |
2 | g.233768294C= | CA1335895272 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1150C= (p.Pro384=) c.1162C= (p.Pro388=) c.1156C= (p.Pro386=) c.1159C= (p.Pro387=) c.355C= (p.Pro119=) | |
2 | g.233768294C>G | CA351074191 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1150C>G (p.Pro384Ala) c.1162C>G (p.Pro388Ala) c.1156C>G (p.Pro386Ala) c.1159C>G (p.Pro387Ala) c.355C>G (p.Pro119Ala) | |
2 | g.233768294C>T | CA67596293 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1150C>T (p.Pro384Ser) c.1162C>T (p.Pro388Ser) c.1156C>T (p.Pro386Ser) c.1159C>T (p.Pro387Ser) c.355C>T (p.Pro119Ser) | dbSNP gnomAD v4 |
2 | g.233768295C>A | CA351074204 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1151C>A (p.Pro384His) c.1163C>A (p.Pro388His) c.1157C>A (p.Pro386His) c.1160C>A (p.Pro387His) c.356C>A (p.Pro119His) | gnomAD v4 |
2 | g.233768295C>G | CA351074205 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1151C>G (p.Pro384Arg) c.1163C>G (p.Pro388Arg) c.1157C>G (p.Pro386Arg) c.1160C>G (p.Pro387Arg) c.356C>G (p.Pro119Arg) | gnomAD v4 |
2 | g.233768295C>T | CA351074203 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1151C>T (p.Pro384Leu) c.1163C>T (p.Pro388Leu) c.1157C>T (p.Pro386Leu) c.1160C>T (p.Pro387Leu) c.356C>T (p.Pro119Leu) | |
2 | g.233768295_233768296delinsCC | CA1335895273 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1151_1152delinsCC (p.Pro384=) c.1163_1164delinsCC (p.Pro388=) c.1157_1158delinsCC (p.Pro386=) c.1160_1161delinsCC (p.Pro387=) c.356_357delinsCC (p.Pro119=) | |
2 | g.233768295_233768296delinsGT | CA913189479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1151_1152delinsGT (p.Pro384Arg) c.1163_1164delinsGT (p.Pro388Arg) c.1157_1158delinsGT (p.Pro386Arg) c.1160_1161delinsGT (p.Pro387Arg) c.356_357delinsGT (p.Pro119Arg) | ClinVar dbSNP |
2 | g.233768296C>A | CA431858747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1152C>A (p.Pro384=) c.1164C>A (p.Pro388=) c.1158C>A (p.Pro386=) c.1161C>A (p.Pro387=) c.357C>A (p.Pro119=) | |
2 | g.233768296C= | CA1335895274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1152C= (p.Pro384=) c.1164C= (p.Pro388=) c.1158C= (p.Pro386=) c.1161C= (p.Pro387=) c.357C= (p.Pro119=) | |
2 | g.233768296C>G | CA431858745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1152C>G (p.Pro384=) c.1164C>G (p.Pro388=) c.1158C>G (p.Pro386=) c.1161C>G (p.Pro387=) c.357C>G (p.Pro119=) | |
2 | g.233768296C>T | CA2180021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1152C>T (p.Pro384=) c.1164C>T (p.Pro388=) c.1158C>T (p.Pro386=) c.1161C>T (p.Pro387=) c.357C>T (p.Pro119=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768297A= | CA1335895275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1153A= (p.Met385=) c.1165A= (p.Met389=) c.1159A= (p.Met387=) c.1162A= (p.Met388=) c.358A= (p.Met120=) | |
2 | g.233768297A>C | CA351074208 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1153A>C (p.Met385Leu) c.1165A>C (p.Met389Leu) c.1159A>C (p.Met387Leu) c.1162A>C (p.Met388Leu) c.358A>C (p.Met120Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768297A>G | CA351074211 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1153A>G (p.Met385Val) c.1165A>G (p.Met389Val) c.1159A>G (p.Met387Val) c.1162A>G (p.Met388Val) c.358A>G (p.Met120Val) | dbSNP |
2 | g.233768297A>T | CA351074213 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1153A>T (p.Met385Leu) c.1165A>T (p.Met389Leu) c.1159A>T (p.Met387Leu) c.1162A>T (p.Met388Leu) c.358A>T (p.Met120Leu) | |
2 | g.233768298T>A | CA351074219 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1154T>A (p.Met385Lys) c.1166T>A (p.Met389Lys) c.1160T>A (p.Met387Lys) c.1163T>A (p.Met388Lys) c.359T>A (p.Met120Lys) | gnomAD v4 |
2 | g.233768298T>C | CA2180022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1154T>C (p.Met385Thr) c.1166T>C (p.Met389Thr) c.1160T>C (p.Met387Thr) c.1163T>C (p.Met388Thr) c.359T>C (p.Met120Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768298T>G | CA351074216 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1154T>G (p.Met385Arg) c.1166T>G (p.Met389Arg) c.1160T>G (p.Met387Arg) c.1163T>G (p.Met388Arg) c.359T>G (p.Met120Arg) | |
2 | g.233768298T= | CA1335895276 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1154T= (p.Met385=) c.1166T= (p.Met389=) c.1160T= (p.Met387=) c.1163T= (p.Met388=) c.359T= (p.Met120=) | |
2 | g.233768299G>A | CA351074221 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1155G>A (p.Met385Ile) c.1167G>A (p.Met389Ile) c.1161G>A (p.Met387Ile) c.1164G>A (p.Met388Ile) c.360G>A (p.Met120Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768299G>C | CA351074224 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1155G>C (p.Met385Ile) c.1167G>C (p.Met389Ile) c.1161G>C (p.Met387Ile) c.1164G>C (p.Met388Ile) c.360G>C (p.Met120Ile) | |
2 | g.233768299G= | CA1335895277 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1155G= (p.Met385=) c.1167G= (p.Met389=) c.1161G= (p.Met387=) c.1164G= (p.Met388=) c.360G= (p.Met120=) | |
2 | g.233768299G>T | CA351074226 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1155G>T (p.Met385Ile) c.1167G>T (p.Met389Ile) c.1161G>T (p.Met387Ile) c.1164G>T (p.Met388Ile) c.360G>T (p.Met120Ile) | |
2 | g.233768300G>A | CA351074230 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1156G>A (p.Val386Met) c.1168G>A (p.Val390Met) c.1162G>A (p.Val388Met) c.1165G>A (p.Val389Met) c.361G>A (p.Val121Met) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768300G>C | CA351074232 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1156G>C (p.Val386Leu) c.1168G>C (p.Val390Leu) c.1162G>C (p.Val388Leu) c.1165G>C (p.Val389Leu) c.361G>C (p.Val121Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768300G= | CA1335895278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1156G= (p.Val386=) c.1168G= (p.Val390=) c.1162G= (p.Val388=) c.1165G= (p.Val389=) c.361G= (p.Val121=) | |
2 | g.233768300G>T | CA351074235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1156G>T (p.Val386Leu) c.1168G>T (p.Val390Leu) c.1162G>T (p.Val388Leu) c.1165G>T (p.Val389Leu) c.361G>T (p.Val121Leu) | |
2 | g.233768301T>A | CA351074252 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1157T>A (p.Val386Glu) c.1169T>A (p.Val390Glu) c.1163T>A (p.Val388Glu) c.1166T>A (p.Val389Glu) c.362T>A (p.Val121Glu) | |
2 | g.233768301T>C | CA351074248 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1157T>C (p.Val386Ala) c.1169T>C (p.Val390Ala) c.1163T>C (p.Val388Ala) c.1166T>C (p.Val389Ala) c.362T>C (p.Val121Ala) | |
2 | g.233768301T>G | CA351074241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1157T>G (p.Val386Gly) c.1169T>G (p.Val390Gly) c.1163T>G (p.Val388Gly) c.1166T>G (p.Val389Gly) c.362T>G (p.Val121Gly) | |
2 | g.233768302G>A | CA431858796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1158G>A (p.Val386=) c.1170G>A (p.Val390=) c.1164G>A (p.Val388=) c.1167G>A (p.Val389=) c.363G>A (p.Val121=) | gnomAD v4 |
2 | g.233768302G>C | CA431858799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1158G>C (p.Val386=) c.1170G>C (p.Val390=) c.1164G>C (p.Val388=) c.1167G>C (p.Val389=) c.363G>C (p.Val121=) | |
2 | g.233768302G>T | CA431858800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1158G>T (p.Val386=) c.1170G>T (p.Val390=) c.1164G>T (p.Val388=) c.1167G>T (p.Val389=) c.363G>T (p.Val121=) | |
2 | g.233768303A>C | CA351074255 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1159A>C (p.Met387Leu) c.1171A>C (p.Met391Leu) c.1165A>C (p.Met389Leu) c.1168A>C (p.Met390Leu) c.364A>C (p.Met122Leu) | gnomAD v4 |
2 | g.233768303A>G | CA351074257 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1159A>G (p.Met387Val) c.1171A>G (p.Met391Val) c.1165A>G (p.Met389Val) c.1168A>G (p.Met390Val) c.364A>G (p.Met122Val) | |
2 | g.233768303A>T | CA351074258 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1159A>T (p.Met387Leu) c.1171A>T (p.Met391Leu) c.1165A>T (p.Met389Leu) c.1168A>T (p.Met390Leu) c.364A>T (p.Met122Leu) | |
2 | g.233768304T>A | CA351074259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1160T>A (p.Met387Lys) c.1172T>A (p.Met391Lys) c.1166T>A (p.Met389Lys) c.1169T>A (p.Met390Lys) c.365T>A (p.Met122Lys) | |
2 | g.233768304T>C | CA351074262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1160T>C (p.Met387Thr) c.1172T>C (p.Met391Thr) c.1166T>C (p.Met389Thr) c.1169T>C (p.Met390Thr) c.365T>C (p.Met122Thr) | |
2 | g.233768304T>G | CA351074265 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1160T>G (p.Met387Arg) c.1172T>G (p.Met391Arg) c.1166T>G (p.Met389Arg) c.1169T>G (p.Met390Arg) c.365T>G (p.Met122Arg) | |
2 | g.233768305G>A | CA351074269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1161G>A (p.Met387Ile) c.1173G>A (p.Met391Ile) c.1167G>A (p.Met389Ile) c.1170G>A (p.Met390Ile) c.366G>A (p.Met122Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768305G>C | CA351074272 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1161G>C (p.Met387Ile) c.1173G>C (p.Met391Ile) c.1167G>C (p.Met389Ile) c.1170G>C (p.Met390Ile) c.366G>C (p.Met122Ile) | gnomAD v4 |
2 | g.233768305G= | CA1335895279 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1161G= (p.Met387=) c.1173G= (p.Met391=) c.1167G= (p.Met389=) c.1170G= (p.Met390=) c.366G= (p.Met122=) | |
2 | g.233768305G>T | CA351074274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1161G>T (p.Met387Ile) c.1173G>T (p.Met391Ile) c.1167G>T (p.Met389Ile) c.1170G>T (p.Met390Ile) c.366G>T (p.Met122Ile) | |
2 | g.233768306A= | CA1335895280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1162A= (p.Met388=) c.1174A= (p.Met392=) c.1168A= (p.Met390=) c.1171A= (p.Met391=) c.367A= (p.Met123=) | |
2 | g.233768306A>C | CA351074277 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1162A>C (p.Met388Leu) c.1174A>C (p.Met392Leu) c.1168A>C (p.Met390Leu) c.1171A>C (p.Met391Leu) c.367A>C (p.Met123Leu) | |
2 | g.233768306A>G | CA351074278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1162A>G (p.Met388Val) c.1174A>G (p.Met392Val) c.1168A>G (p.Met390Val) c.1171A>G (p.Met391Val) c.367A>G (p.Met123Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768306A>T | CA351074280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1162A>T (p.Met388Leu) c.1174A>T (p.Met392Leu) c.1168A>T (p.Met390Leu) c.1171A>T (p.Met391Leu) c.367A>T (p.Met123Leu) | |
2 | g.233768307T>A | CA351074290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1163T>A (p.Met388Lys) c.1175T>A (p.Met392Lys) c.1169T>A (p.Met390Lys) c.1172T>A (p.Met391Lys) c.368T>A (p.Met123Lys) | |
2 | g.233768307T>C | CA351074293 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1163T>C (p.Met388Thr) c.1175T>C (p.Met392Thr) c.1169T>C (p.Met390Thr) c.1172T>C (p.Met391Thr) c.368T>C (p.Met123Thr) | |
2 | g.233768307T>G | CA351074284 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1163T>G (p.Met388Arg) c.1175T>G (p.Met392Arg) c.1169T>G (p.Met390Arg) c.1172T>G (p.Met391Arg) c.368T>G (p.Met123Arg) | |
2 | g.233768308G>A | CA2180023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1164G>A (p.Met388Ile) c.1176G>A (p.Met392Ile) c.1170G>A (p.Met390Ile) c.1173G>A (p.Met391Ile) c.369G>A (p.Met123Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233768308G>C | CA351074294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1164G>C (p.Met388Ile) c.1176G>C (p.Met392Ile) c.1170G>C (p.Met390Ile) c.1173G>C (p.Met391Ile) c.369G>C (p.Met123Ile) | |
2 | g.233768308G= | CA1335895281 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1164G= (p.Met388=) c.1176G= (p.Met392=) c.1170G= (p.Met390=) c.1173G= (p.Met391=) c.369G= (p.Met123=) | |
2 | g.233768308G>T | CA351074295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1164G>T (p.Met388Ile) c.1176G>T (p.Met392Ile) c.1170G>T (p.Met390Ile) c.1173G>T (p.Met391Ile) c.369G>T (p.Met123Ile) | |
2 | g.233768309C>A | CA351074297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1165C>A (p.Pro389Thr) c.1177C>A (p.Pro393Thr) c.1171C>A (p.Pro391Thr) c.1174C>A (p.Pro392Thr) c.370C>A (p.Pro124Thr) | |
2 | g.233768309C= | CA1335895282 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1165C= (p.Pro389=) c.1177C= (p.Pro393=) c.1171C= (p.Pro391=) c.1174C= (p.Pro392=) c.370C= (p.Pro124=) | |
2 | g.233768309C>G | CA351074310 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1165C>G (p.Pro389Ala) c.1177C>G (p.Pro393Ala) c.1171C>G (p.Pro391Ala) c.1174C>G (p.Pro392Ala) c.370C>G (p.Pro124Ala) | |
2 | g.233768309C>T | CA351074314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1165C>T (p.Pro389Ser) c.1177C>T (p.Pro393Ser) c.1171C>T (p.Pro391Ser) c.1174C>T (p.Pro392Ser) c.370C>T (p.Pro124Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768310C>A | CA351074316 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1166C>A (p.Pro389His) c.1178C>A (p.Pro393His) c.1172C>A (p.Pro391His) c.1175C>A (p.Pro392His) c.371C>A (p.Pro124His) | |
2 | g.233768310C= | CA1335895283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1166C= (p.Pro389=) c.1178C= (p.Pro393=) c.1172C= (p.Pro391=) c.1175C= (p.Pro392=) c.371C= (p.Pro124=) | |
2 | g.233768310C>G | CA351074325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1166C>G (p.Pro389Arg) c.1178C>G (p.Pro393Arg) c.1172C>G (p.Pro391Arg) c.1175C>G (p.Pro392Arg) c.371C>G (p.Pro124Arg) | gnomAD v4 |
2 | g.233768310C>T | CA10605066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1166C>T (p.Pro389Leu) c.1178C>T (p.Pro393Leu) c.1172C>T (p.Pro391Leu) c.1175C>T (p.Pro392Leu) c.371C>T (p.Pro124Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768311C>A | CA431858903 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1167C>A (p.Pro389=) c.1179C>A (p.Pro393=) c.1173C>A (p.Pro391=) c.1176C>A (p.Pro392=) c.372C>A (p.Pro124=) | |
2 | g.233768311C>G | CA431858899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1167C>G (p.Pro389=) c.1179C>G (p.Pro393=) c.1173C>G (p.Pro391=) c.1176C>G (p.Pro392=) c.372C>G (p.Pro124=) | |
2 | g.233768311C>T | CA431858901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1167C>T (p.Pro389=) c.1179C>T (p.Pro393=) c.1173C>T (p.Pro391=) c.1176C>T (p.Pro392=) c.372C>T (p.Pro124=) | |
2 | g.233768312T>A | CA351074327 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1168T>A (p.Leu390Met) c.1180T>A (p.Leu394Met) c.1174T>A (p.Leu392Met) c.1177T>A (p.Leu393Met) c.373T>A (p.Leu125Met) | |
2 | g.233768312T>C | CA431858905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1168T>C (p.Leu390=) c.1180T>C (p.Leu394=) c.1174T>C (p.Leu392=) c.1177T>C (p.Leu393=) c.373T>C (p.Leu125=) | |
2 | g.233768312T>G | CA351074329 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1168T>G (p.Leu390Val) c.1180T>G (p.Leu394Val) c.1174T>G (p.Leu392Val) c.1177T>G (p.Leu393Val) c.373T>G (p.Leu125Val) | |
2 | g.233768313T>A | CA351074337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1169T>A (p.Leu390Ter) c.1181T>A (p.Leu394Ter) c.1175T>A (p.Leu392Ter) c.1178T>A (p.Leu393Ter) c.374T>A (p.Leu125Ter) | |
2 | g.233768313T>C | CA351074340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1169T>C (p.Leu390Ser) c.1181T>C (p.Leu394Ser) c.1175T>C (p.Leu392Ser) c.1178T>C (p.Leu393Ser) c.374T>C (p.Leu125Ser) | gnomAD v4 |
2 | g.233768313T>G | CA351074342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1169T>G (p.Leu390Trp) c.1181T>G (p.Leu394Trp) c.1175T>G (p.Leu392Trp) c.1178T>G (p.Leu393Trp) c.374T>G (p.Leu125Trp) | |
2 | g.233768314G>A | CA431858912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1170G>A (p.Leu390=) c.1182G>A (p.Leu394=) c.1176G>A (p.Leu392=) c.1179G>A (p.Leu393=) c.375G>A (p.Leu125=) | dbSNP gnomAD v4 |
2 | g.233768314G>C | CA351074345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1170G>C (p.Leu390Phe) c.1182G>C (p.Leu394Phe) c.1176G>C (p.Leu392Phe) c.1179G>C (p.Leu393Phe) c.375G>C (p.Leu125Phe) | |
2 | g.233768314G= | CA1335895284 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1170G= (p.Leu390=) c.1182G= (p.Leu394=) c.1176G= (p.Leu392=) c.1179G= (p.Leu393=) c.375G= (p.Leu125=) | |
2 | g.233768314G>T | CA351074344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1170G>T (p.Leu390Phe) c.1182G>T (p.Leu394Phe) c.1176G>T (p.Leu392Phe) c.1179G>T (p.Leu393Phe) c.375G>T (p.Leu125Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768315T>A | CA351074346 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1171T>A (p.Phe391Ile) c.1183T>A (p.Phe395Ile) c.1177T>A (p.Phe393Ile) c.1180T>A (p.Phe394Ile) c.376T>A (p.Phe126Ile) | |
2 | g.233768315T>C | CA351074349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1171T>C (p.Phe391Leu) c.1183T>C (p.Phe395Leu) c.1177T>C (p.Phe393Leu) c.1180T>C (p.Phe394Leu) c.376T>C (p.Phe126Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.233768315T>G | CA351074347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1171T>G (p.Phe391Val) c.1183T>G (p.Phe395Val) c.1177T>G (p.Phe393Val) c.1180T>G (p.Phe394Val) c.376T>G (p.Phe126Val) | |
2 | g.233768315T= | CA1335895285 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1171T= (p.Phe391=) c.1183T= (p.Phe395=) c.1177T= (p.Phe393=) c.1180T= (p.Phe394=) c.376T= (p.Phe126=) | |
2 | g.233768317dup | CA2663717386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1173dup (p.Gly392TrpfsTer2) c.1185dup (p.Gly396TrpfsTer2) c.1179dup (p.Gly394TrpfsTer2) c.1182dup (p.Gly395TrpfsTer2) c.378dup (p.Gly127TrpfsTer2) | gnomAD v4 |
2 | g.233768316T>A | CA351074351 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1172T>A (p.Phe391Tyr) c.1184T>A (p.Phe395Tyr) c.1178T>A (p.Phe393Tyr) c.1181T>A (p.Phe394Tyr) c.377T>A (p.Phe126Tyr) | |
2 | g.233768316T>C | CA351074362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1172T>C (p.Phe391Ser) c.1184T>C (p.Phe395Ser) c.1178T>C (p.Phe393Ser) c.1181T>C (p.Phe394Ser) c.377T>C (p.Phe126Ser) | |
2 | g.233768316T>G | CA351074359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1172T>G (p.Phe391Cys) c.1184T>G (p.Phe395Cys) c.1178T>G (p.Phe393Cys) c.1181T>G (p.Phe394Cys) c.377T>G (p.Phe126Cys) | |
2 | g.233768317T>A | CA351074366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1173T>A (p.Phe391Leu) c.1185T>A (p.Phe395Leu) c.1179T>A (p.Phe393Leu) c.1182T>A (p.Phe394Leu) c.378T>A (p.Phe126Leu) | |
2 | g.233768317T>C | CA431858922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1173T>C (p.Phe391=) c.1185T>C (p.Phe395=) c.1179T>C (p.Phe393=) c.1182T>C (p.Phe394=) c.378T>C (p.Phe126=) | |
2 | g.233768317T>G | CA351074371 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1173T>G (p.Phe391Leu) c.1185T>G (p.Phe395Leu) c.1179T>G (p.Phe393Leu) c.1182T>G (p.Phe394Leu) c.378T>G (p.Phe126Leu) | |
2 | g.233768318G>A | CA351074373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1174G>A (p.Gly392Ser) c.1186G>A (p.Gly396Ser) c.1180G>A (p.Gly394Ser) c.1183G>A (p.Gly395Ser) c.379G>A (p.Gly127Ser) | |
2 | g.233768318G>C | CA351074374 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1174G>C (p.Gly392Arg) c.1186G>C (p.Gly396Arg) c.1180G>C (p.Gly394Arg) c.1183G>C (p.Gly395Arg) c.379G>C (p.Gly127Arg) | |
2 | g.233768318G>T | CA351074375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1174G>T (p.Gly392Cys) c.1186G>T (p.Gly396Cys) c.1180G>T (p.Gly394Cys) c.1183G>T (p.Gly395Cys) c.379G>T (p.Gly127Cys) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768319G>A | CA67596335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1175G>A (p.Gly392Asp) c.1187G>A (p.Gly396Asp) c.1181G>A (p.Gly394Asp) c.1184G>A (p.Gly395Asp) c.380G>A (p.Gly127Asp) | dbSNP gnomAD v4 |
2 | g.233768319G>C | CA2180024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1175G>C (p.Gly392Ala) c.1187G>C (p.Gly396Ala) c.1181G>C (p.Gly394Ala) c.1184G>C (p.Gly395Ala) c.380G>C (p.Gly127Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768319G= | CA1335895286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1175G= (p.Gly392=) c.1187G= (p.Gly396=) c.1181G= (p.Gly394=) c.1184G= (p.Gly395=) c.380G= (p.Gly127=) | |
2 | g.233768319G>T | CA2180025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1175G>T (p.Gly392Val) c.1187G>T (p.Gly396Val) c.1181G>T (p.Gly394Val) c.1184G>T (p.Gly395Val) c.380G>T (p.Gly127Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768320T>A | CA431858939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1176T>A (p.Gly392=) c.1188T>A (p.Gly396=) c.1182T>A (p.Gly394=) c.1185T>A (p.Gly395=) c.381T>A (p.Gly127=) | |
2 | g.233768320T>C | CA431858945 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1176T>C (p.Gly392=) c.1188T>C (p.Gly396=) c.1182T>C (p.Gly394=) c.1185T>C (p.Gly395=) c.381T>C (p.Gly127=) | dbSNP |
2 | g.233768320T>G | CA2180026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1176T>G (p.Gly392=) c.1188T>G (p.Gly396=) c.1182T>G (p.Gly394=) c.1185T>G (p.Gly395=) c.381T>G (p.Gly127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233768320T= | CA1335895287 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1176T= (p.Gly392=) c.1188T= (p.Gly396=) c.1182T= (p.Gly394=) c.1185T= (p.Gly395=) c.381T= (p.Gly127=) | |
2 | g.233768321del | CA2586971582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1177del (p.Asp393IlefsTer16) c.1189del (p.Asp397IlefsTer16) c.1183del (p.Asp395IlefsTer16) c.1186del (p.Asp396IlefsTer16) c.382del (p.Asp128IlefsTer16) | |
2 | g.233768321G>A | CA351074382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1177G>A (p.Asp393Asn) c.1189G>A (p.Asp397Asn) c.1183G>A (p.Asp395Asn) c.1186G>A (p.Asp396Asn) c.382G>A (p.Asp128Asn) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768321G>C | CA351074384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1177G>C (p.Asp393His) c.1189G>C (p.Asp397His) c.1183G>C (p.Asp395His) c.1186G>C (p.Asp396His) c.382G>C (p.Asp128His) | |
2 | g.233768321G>T | CA351074386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1177G>T (p.Asp393Tyr) c.1189G>T (p.Asp397Tyr) c.1183G>T (p.Asp395Tyr) c.1186G>T (p.Asp396Tyr) c.382G>T (p.Asp128Tyr) | |
2 | g.233768322A>C | CA351074387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1178A>C (p.Asp393Ala) c.1190A>C (p.Asp397Ala) c.1184A>C (p.Asp395Ala) c.1187A>C (p.Asp396Ala) c.383A>C (p.Asp128Ala) | |
2 | g.233768322A>G | CA351074390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1178A>G (p.Asp393Gly) c.1190A>G (p.Asp397Gly) c.1184A>G (p.Asp395Gly) c.1187A>G (p.Asp396Gly) c.383A>G (p.Asp128Gly) | |
2 | g.233768322A>T | CA351074389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1178A>T (p.Asp393Val) c.1190A>T (p.Asp397Val) c.1184A>T (p.Asp395Val) c.1187A>T (p.Asp396Val) c.383A>T (p.Asp128Val) | |
2 | g.233768323T>A | CA351074871 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1179T>A (p.Asp393Glu) c.1191T>A (p.Asp397Glu) c.1185T>A (p.Asp395Glu) c.1188T>A (p.Asp396Glu) c.384T>A (p.Asp128Glu) | |
2 | g.233768323T>C | CA431859738 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1179T>C (p.Asp393=) c.1191T>C (p.Asp397=) c.1185T>C (p.Asp395=) c.1188T>C (p.Asp396=) c.384T>C (p.Asp128=) | |
2 | g.233768323T>G | CA351074873 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1179T>G (p.Asp393Glu) c.1191T>G (p.Asp397Glu) c.1185T>G (p.Asp395Glu) c.1188T>G (p.Asp396Glu) c.384T>G (p.Asp128Glu) | |
2 | g.233768324C>A | CA351074875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1180C>A (p.Gln394Lys) c.1192C>A (p.Gln398Lys) c.1186C>A (p.Gln396Lys) c.1189C>A (p.Gln397Lys) c.385C>A (p.Gln129Lys) | |
2 | g.233768324C>G | CA351074877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1180C>G (p.Gln394Glu) c.1192C>G (p.Gln398Glu) c.1186C>G (p.Gln396Glu) c.1189C>G (p.Gln397Glu) c.385C>G (p.Gln129Glu) | |
2 | g.233768324C>T | CA351074879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1180C>T (p.Gln394Ter) c.1192C>T (p.Gln398Ter) c.1186C>T (p.Gln396Ter) c.1189C>T (p.Gln397Ter) c.385C>T (p.Gln129Ter) | |
2 | g.233768325A>C | CA351074881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1181A>C (p.Gln394Pro) c.1193A>C (p.Gln398Pro) c.1187A>C (p.Gln396Pro) c.1190A>C (p.Gln397Pro) c.386A>C (p.Gln129Pro) | |
2 | g.233768325A>G | CA351074883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1181A>G (p.Gln394Arg) c.1193A>G (p.Gln398Arg) c.1187A>G (p.Gln396Arg) c.1190A>G (p.Gln397Arg) c.386A>G (p.Gln129Arg) | gnomAD v4 |
2 | g.233768325A>T | CA351074885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1181A>T (p.Gln394Leu) c.1193A>T (p.Gln398Leu) c.1187A>T (p.Gln396Leu) c.1190A>T (p.Gln397Leu) c.386A>T (p.Gln129Leu) | |
2 | g.233768326G>A | CA431859758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1182G>A (p.Gln394=) c.1194G>A (p.Gln398=) c.1188G>A (p.Gln396=) c.1191G>A (p.Gln397=) c.387G>A (p.Gln129=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768326G>C | CA351074886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1182G>C (p.Gln394His) c.1194G>C (p.Gln398His) c.1188G>C (p.Gln396His) c.1191G>C (p.Gln397His) c.387G>C (p.Gln129His) | |
2 | g.233768326G= | CA1335895288 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1182G= (p.Gln394=) c.1194G= (p.Gln398=) c.1188G= (p.Gln396=) c.1191G= (p.Gln397=) c.387G= (p.Gln129=) | |
2 | g.233768326G>T | CA351074888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1182G>T (p.Gln394His) c.1194G>T (p.Gln398His) c.1188G>T (p.Gln396His) c.1191G>T (p.Gln397His) c.387G>T (p.Gln129His) | |
2 | g.233768327A>C | CA351074894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1183A>C (p.Met395Leu) c.1195A>C (p.Met399Leu) c.1189A>C (p.Met397Leu) c.1192A>C (p.Met398Leu) c.388A>C (p.Met130Leu) | |
2 | g.233768327A>G | CA351074892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1183A>G (p.Met395Val) c.1195A>G (p.Met399Val) c.1189A>G (p.Met397Val) c.1192A>G (p.Met398Val) c.388A>G (p.Met130Val) | |
2 | g.233768327A>T | CA351074890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1183A>T (p.Met395Leu) c.1195A>T (p.Met399Leu) c.1189A>T (p.Met397Leu) c.1192A>T (p.Met398Leu) c.388A>T (p.Met130Leu) | |
2 | g.233768328T>A | CA351074898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1184T>A (p.Met395Lys) c.1196T>A (p.Met399Lys) c.1190T>A (p.Met397Lys) c.1193T>A (p.Met398Lys) c.389T>A (p.Met130Lys) | |
2 | g.233768328T>C | CA2180027 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1184T>C (p.Met395Thr) c.1196T>C (p.Met399Thr) c.1190T>C (p.Met397Thr) c.1193T>C (p.Met398Thr) c.389T>C (p.Met130Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233768328T>G | CA351074896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1184T>G (p.Met395Arg) c.1196T>G (p.Met399Arg) c.1190T>G (p.Met397Arg) c.1193T>G (p.Met398Arg) c.389T>G (p.Met130Arg) | |
2 | g.233768328T= | CA1335895289 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1184T= (p.Met395=) c.1196T= (p.Met399=) c.1190T= (p.Met397=) c.1193T= (p.Met398=) c.389T= (p.Met130=) | |
2 | g.233768329G>A | CA351074900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1185G>A (p.Met395Ile) c.1197G>A (p.Met399Ile) c.1191G>A (p.Met397Ile) c.1194G>A (p.Met398Ile) c.390G>A (p.Met130Ile) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768329G>C | CA351074901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1185G>C (p.Met395Ile) c.1197G>C (p.Met399Ile) c.1191G>C (p.Met397Ile) c.1194G>C (p.Met398Ile) c.390G>C (p.Met130Ile) | |
2 | g.233768329G>T | CA351074903 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1185G>T (p.Met395Ile) c.1197G>T (p.Met399Ile) c.1191G>T (p.Met397Ile) c.1194G>T (p.Met398Ile) c.390G>T (p.Met130Ile) | |
2 | g.233768330G>A | CA351074906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1186G>A (p.Asp396Asn) c.1198G>A (p.Asp400Asn) c.1192G>A (p.Asp398Asn) c.1195G>A (p.Asp399Asn) c.391G>A (p.Asp131Asn) | |
2 | g.233768330G>C | CA351074907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1186G>C (p.Asp396His) c.1198G>C (p.Asp400His) c.1192G>C (p.Asp398His) c.1195G>C (p.Asp399His) c.391G>C (p.Asp131His) | |
2 | g.233768330G>T | CA351074909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1186G>T (p.Asp396Tyr) c.1198G>T (p.Asp400Tyr) c.1192G>T (p.Asp398Tyr) c.1195G>T (p.Asp399Tyr) c.391G>T (p.Asp131Tyr) | |
2 | g.233768331A= | CA1335895290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1187A= (p.Asp396=) c.1199A= (p.Asp400=) c.1193A= (p.Asp398=) c.1196A= (p.Asp399=) c.392A= (p.Asp131=) | |
2 | g.233768331A>C | CA351074911 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1187A>C (p.Asp396Ala) c.1199A>C (p.Asp400Ala) c.1193A>C (p.Asp398Ala) c.1196A>C (p.Asp399Ala) c.392A>C (p.Asp131Ala) | |
2 | g.233768331A>G | CA2180028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1187A>G (p.Asp396Gly) c.1199A>G (p.Asp400Gly) c.1193A>G (p.Asp398Gly) c.1196A>G (p.Asp399Gly) c.392A>G (p.Asp131Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233768331A>T | CA351074913 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1187A>T (p.Asp396Val) c.1199A>T (p.Asp400Val) c.1193A>T (p.Asp398Val) c.1196A>T (p.Asp399Val) c.392A>T (p.Asp131Val) | |
2 | g.233768332C>A | CA351074915 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1188C>A (p.Asp396Glu) c.1200C>A (p.Asp400Glu) c.1194C>A (p.Asp398Glu) c.1197C>A (p.Asp399Glu) c.393C>A (p.Asp131Glu) | |
2 | g.233768332C>G | CA351074917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1188C>G (p.Asp396Glu) c.1200C>G (p.Asp400Glu) c.1194C>G (p.Asp398Glu) c.1197C>G (p.Asp399Glu) c.393C>G (p.Asp131Glu) | |
2 | g.233768332C>T | CA431859798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1188C>T (p.Asp396=) c.1200C>T (p.Asp400=) c.1194C>T (p.Asp398=) c.1197C>T (p.Asp399=) c.393C>T (p.Asp131=) | |
2 | g.233768333A= | CA1335895291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A= (p.Asn397=) c.1201A= (p.Asn401=) c.1195A= (p.Asn399=) c.1198A= (p.Asn400=) c.394A= (p.Asn132=) | |
2 | g.233768333A>C | CA67596366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>C (p.Asn397His) c.1201A>C (p.Asn401His) c.1195A>C (p.Asn399His) c.1198A>C (p.Asn400His) c.394A>C (p.Asn132His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768333A>G | CA122104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>G (p.Asn397Asp) c.1201A>G (p.Asn401Asp) c.1195A>G (p.Asn399Asp) c.1198A>G (p.Asn400Asp) c.394A>G (p.Asn132Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768333A>T | CA351074920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1189A>T (p.Asn397Tyr) c.1201A>T (p.Asn401Tyr) c.1195A>T (p.Asn399Tyr) c.1198A>T (p.Asn400Tyr) c.394A>T (p.Asn132Tyr) | |
2 | g.233768334A>C | CA351074924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>C (p.Asn397Thr) c.1202A>C (p.Asn401Thr) c.1196A>C (p.Asn399Thr) c.1199A>C (p.Asn400Thr) c.395A>C (p.Asn132Thr) | |
2 | g.233768334A>G | CA351074925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>G (p.Asn397Ser) c.1202A>G (p.Asn401Ser) c.1196A>G (p.Asn399Ser) c.1199A>G (p.Asn400Ser) c.395A>G (p.Asn132Ser) | gnomAD v4 |
2 | g.233768334A>T | CA351074927 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1190A>T (p.Asn397Ile) c.1202A>T (p.Asn401Ile) c.1196A>T (p.Asn399Ile) c.1199A>T (p.Asn400Ile) c.395A>T (p.Asn132Ile) | |
2 | g.233768335T>A | CA67596377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>A (p.Asn397Lys) c.1203T>A (p.Asn401Lys) c.1197T>A (p.Asn399Lys) c.1200T>A (p.Asn400Lys) c.396T>A (p.Asn132Lys) | dbSNP |
2 | g.233768335T>C | CA2180029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>C (p.Asn397=) c.1203T>C (p.Asn401=) c.1197T>C (p.Asn399=) c.1200T>C (p.Asn400=) c.396T>C (p.Asn132=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768335T>G | CA351074928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T>G (p.Asn397Lys) c.1203T>G (p.Asn401Lys) c.1197T>G (p.Asn399Lys) c.1200T>G (p.Asn400Lys) c.396T>G (p.Asn132Lys) | |
2 | g.233768335T= | CA1335895292 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1191T= (p.Asn397=) c.1203T= (p.Asn401=) c.1197T= (p.Asn399=) c.1200T= (p.Asn400=) c.396T= (p.Asn132=) | |
2 | g.233768336G>A | CA351074929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>A (p.Ala398Thr) c.1204G>A (p.Ala402Thr) c.1198G>A (p.Ala400Thr) c.1201G>A (p.Ala401Thr) c.397G>A (p.Ala133Thr) | |
2 | g.233768336G>C | CA67596390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>C (p.Ala398Pro) c.1204G>C (p.Ala402Pro) c.1198G>C (p.Ala400Pro) c.1201G>C (p.Ala401Pro) c.397G>C (p.Ala133Pro) | dbSNP |
2 | g.233768336G= | CA1335895293 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G= (p.Ala398=) c.1204G= (p.Ala402=) c.1198G= (p.Ala400=) c.1201G= (p.Ala401=) c.397G= (p.Ala133=) | |
2 | g.233768336G>T | CA351074930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1192G>T (p.Ala398Ser) c.1204G>T (p.Ala402Ser) c.1198G>T (p.Ala400Ser) c.1201G>T (p.Ala401Ser) c.397G>T (p.Ala133Ser) | |
2 | g.233768337C>A | CA351074931 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>A (p.Ala398Glu) c.1205C>A (p.Ala402Glu) c.1199C>A (p.Ala400Glu) c.1202C>A (p.Ala401Glu) c.398C>A (p.Ala133Glu) | gnomAD v4 |
2 | g.233768337C>G | CA351074932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>G (p.Ala398Gly) c.1205C>G (p.Ala402Gly) c.1199C>G (p.Ala400Gly) c.1202C>G (p.Ala401Gly) c.398C>G (p.Ala133Gly) | |
2 | g.233768337C>T | CA351074933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1193C>T (p.Ala398Val) c.1205C>T (p.Ala402Val) c.1199C>T (p.Ala400Val) c.1202C>T (p.Ala401Val) c.398C>T (p.Ala133Val) | |
2 | g.233768338A>C | CA431859841 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>C (p.Ala398=) c.1206A>C (p.Ala402=) c.1200A>C (p.Ala400=) c.1203A>C (p.Ala401=) c.399A>C (p.Ala133=) | |
2 | g.233768338A>G | CA431859839 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>G (p.Ala398=) c.1206A>G (p.Ala402=) c.1200A>G (p.Ala400=) c.1203A>G (p.Ala401=) c.399A>G (p.Ala133=) | |
2 | g.233768338A>T | CA431859843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1194A>T (p.Ala398=) c.1206A>T (p.Ala402=) c.1200A>T (p.Ala400=) c.1203A>T (p.Ala401=) c.399A>T (p.Ala133=) | |
2 | g.233768339A>C | CA351074935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>C (p.Lys399Gln) c.1207A>C (p.Lys403Gln) c.1201A>C (p.Lys401Gln) c.1204A>C (p.Lys402Gln) c.400A>C (p.Lys134Gln) | |
2 | g.233768339A>G | CA351074936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>G (p.Lys399Glu) c.1207A>G (p.Lys403Glu) c.1201A>G (p.Lys401Glu) c.1204A>G (p.Lys402Glu) c.400A>G (p.Lys134Glu) | |
2 | g.233768339A>T | CA351074934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1195A>T (p.Lys399Ter) c.1207A>T (p.Lys403Ter) c.1201A>T (p.Lys401Ter) c.1204A>T (p.Lys402Ter) c.400A>T (p.Lys134Ter) | |
2 | g.233768340A>C | CA351074937 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>C (p.Lys399Thr) c.1208A>C (p.Lys403Thr) c.1202A>C (p.Lys401Thr) c.1205A>C (p.Lys402Thr) c.401A>C (p.Lys134Thr) | |
2 | g.233768340A>G | CA351074938 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>G (p.Lys399Arg) c.1208A>G (p.Lys403Arg) c.1202A>G (p.Lys401Arg) c.1205A>G (p.Lys402Arg) c.401A>G (p.Lys134Arg) | |
2 | g.233768340A>T | CA351074939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1196A>T (p.Lys399Met) c.1208A>T (p.Lys403Met) c.1202A>T (p.Lys401Met) c.1205A>T (p.Lys402Met) c.401A>T (p.Lys134Met) | |
2 | g.233768341G>A | CA431859860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>A (p.Lys399=) c.1209G>A (p.Lys403=) c.1203G>A (p.Lys401=) c.1206G>A (p.Lys402=) c.402G>A (p.Lys134=) | |
2 | g.233768341G>C | CA351074940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>C (p.Lys399Asn) c.1209G>C (p.Lys403Asn) c.1203G>C (p.Lys401Asn) c.1206G>C (p.Lys402Asn) c.402G>C (p.Lys134Asn) | |
2 | g.233768341G>T | CA351074941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1197G>T (p.Lys399Asn) c.1209G>T (p.Lys403Asn) c.1203G>T (p.Lys401Asn) c.1206G>T (p.Lys402Asn) c.402G>T (p.Lys134Asn) | |
2 | g.233768342C>A | CA351074942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>A (p.Arg400Ser) c.1210C>A (p.Arg404Ser) c.1204C>A (p.Arg402Ser) c.1207C>A (p.Arg403Ser) c.403C>A (p.Arg135Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768342C= | CA1335895294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C= (p.Arg400=) c.1210C= (p.Arg404=) c.1204C= (p.Arg402=) c.1207C= (p.Arg403=) c.403C= (p.Arg135=) | |
2 | g.233768342C>G | CA351074943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>G (p.Arg400Gly) c.1210C>G (p.Arg404Gly) c.1204C>G (p.Arg402Gly) c.1207C>G (p.Arg403Gly) c.403C>G (p.Arg135Gly) | gnomAD v4 |
2 | g.233768342C>T | CA2180030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1198C>T (p.Arg400Cys) c.1210C>T (p.Arg404Cys) c.1204C>T (p.Arg402Cys) c.1207C>T (p.Arg403Cys) c.403C>T (p.Arg135Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768343G>A | CA2180031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>A (p.Arg400His) c.1211G>A (p.Arg404His) c.1205G>A (p.Arg402His) c.1208G>A (p.Arg403His) c.404G>A (p.Arg135His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768343G>C | CA351074945 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>C (p.Arg400Pro) c.1211G>C (p.Arg404Pro) c.1205G>C (p.Arg402Pro) c.1208G>C (p.Arg403Pro) c.404G>C (p.Arg135Pro) | |
2 | g.233768343G= | CA1335895295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G= (p.Arg400=) c.1211G= (p.Arg404=) c.1205G= (p.Arg402=) c.1208G= (p.Arg403=) c.404G= (p.Arg135=) | |
2 | g.233768343G>T | CA351074944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1199G>T (p.Arg400Leu) c.1211G>T (p.Arg404Leu) c.1205G>T (p.Arg402Leu) c.1208G>T (p.Arg403Leu) c.404G>T (p.Arg135Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.233768344C>A | CA431859883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>A (p.Arg400=) c.1212C>A (p.Arg404=) c.1206C>A (p.Arg402=) c.1209C>A (p.Arg403=) c.405C>A (p.Arg135=) | |
2 | g.233768344C= | CA1335895296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C= (p.Arg400=) c.1212C= (p.Arg404=) c.1206C= (p.Arg402=) c.1209C= (p.Arg403=) c.405C= (p.Arg135=) | |
2 | g.233768344C>G | CA431859880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>G (p.Arg400=) c.1212C>G (p.Arg404=) c.1206C>G (p.Arg402=) c.1209C>G (p.Arg403=) c.405C>G (p.Arg135=) | |
2 | g.233768344C>T | CA2180032 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1200C>T (p.Arg400=) c.1212C>T (p.Arg404=) c.1206C>T (p.Arg402=) c.1209C>T (p.Arg403=) c.405C>T (p.Arg135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768345A= | CA1335895297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A= (p.Met401=) c.1213A= (p.Met405=) c.1207A= (p.Met403=) c.1210A= (p.Met404=) c.406A= (p.Met136=) | |
2 | g.233768345A>C | CA351074946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>C (p.Met401Leu) c.1213A>C (p.Met405Leu) c.1207A>C (p.Met403Leu) c.1210A>C (p.Met404Leu) c.406A>C (p.Met136Leu) | dbSNP |
2 | g.233768345A>G | CA2180033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>G (p.Met401Val) c.1213A>G (p.Met405Val) c.1207A>G (p.Met403Val) c.1210A>G (p.Met404Val) c.406A>G (p.Met136Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768345A>T | CA351074947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1201A>T (p.Met401Leu) c.1213A>T (p.Met405Leu) c.1207A>T (p.Met403Leu) c.1210A>T (p.Met404Leu) c.406A>T (p.Met136Leu) | |
2 | g.233768346T>A | CA351074948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>A (p.Met401Lys) c.1214T>A (p.Met405Lys) c.1208T>A (p.Met403Lys) c.1211T>A (p.Met404Lys) c.407T>A (p.Met136Lys) | |
2 | g.233768346T>C | CA2180034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>C (p.Met401Thr) c.1214T>C (p.Met405Thr) c.1208T>C (p.Met403Thr) c.1211T>C (p.Met404Thr) c.407T>C (p.Met136Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768346T>G | CA351074949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T>G (p.Met401Arg) c.1214T>G (p.Met405Arg) c.1208T>G (p.Met403Arg) c.1211T>G (p.Met404Arg) c.407T>G (p.Met136Arg) | |
2 | g.233768346T= | CA1335895298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1202T= (p.Met401=) c.1214T= (p.Met405=) c.1208T= (p.Met403=) c.1211T= (p.Met404=) c.407T= (p.Met136=) | |
2 | g.233768347G>A | CA351074950 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1203G>A (p.Met401Ile) c.1215G>A (p.Met405Ile) c.1209G>A (p.Met403Ile) c.1212G>A (p.Met404Ile) c.408G>A (p.Met136Ile) | |
2 | g.233768347G>C | CA351074951 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1203G>C (p.Met401Ile) c.1215G>C (p.Met405Ile) c.1209G>C (p.Met403Ile) c.1212G>C (p.Met404Ile) c.408G>C (p.Met136Ile) | |
2 | g.233768347G>T | CA351074952 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1203G>T (p.Met401Ile) c.1215G>T (p.Met405Ile) c.1209G>T (p.Met403Ile) c.1212G>T (p.Met404Ile) c.408G>T (p.Met136Ile) | dbSNP |
2 | g.233768351_233768360del | CA2740098050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1207_1216del (p.Thr403LeufsTer3) c.1219_1228del (p.Thr407LeufsTer3) c.1213_1222del (p.Thr405LeufsTer3) c.1216_1225del (p.Thr406LeufsTer3) c.412_421del (p.Thr138LeufsTer3) | ClinVar |
2 | g.233768348G>A | CA351074953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1204G>A (p.Glu402Lys) c.1216G>A (p.Glu406Lys) c.1210G>A (p.Glu404Lys) c.1213G>A (p.Glu405Lys) c.409G>A (p.Glu137Lys) | |
2 | g.233768348G>C | CA351074954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1204G>C (p.Glu402Gln) c.1216G>C (p.Glu406Gln) c.1210G>C (p.Glu404Gln) c.1213G>C (p.Glu405Gln) c.409G>C (p.Glu137Gln) | |
2 | g.233768348G>T | CA351074955 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1204G>T (p.Glu402Ter) c.1216G>T (p.Glu406Ter) c.1210G>T (p.Glu404Ter) c.1213G>T (p.Glu405Ter) c.409G>T (p.Glu137Ter) | gnomAD v4 |
2 | g.233768349A= | CA1335895299 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1205A= (p.Glu402=) c.1217A= (p.Glu406=) c.1211A= (p.Glu404=) c.1214A= (p.Glu405=) c.410A= (p.Glu137=) | |
2 | g.233768349A>C | CA351074956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1205A>C (p.Glu402Ala) c.1217A>C (p.Glu406Ala) c.1211A>C (p.Glu404Ala) c.1214A>C (p.Glu405Ala) c.410A>C (p.Glu137Ala) | |
2 | g.233768349A>G | CA351074957 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1205A>G (p.Glu402Gly) c.1217A>G (p.Glu406Gly) c.1211A>G (p.Glu404Gly) c.1214A>G (p.Glu405Gly) c.410A>G (p.Glu137Gly) | |
2 | g.233768349A>T | CA351074958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1205A>T (p.Glu402Val) c.1217A>T (p.Glu406Val) c.1211A>T (p.Glu404Val) c.1214A>T (p.Glu405Val) c.410A>T (p.Glu137Val) | dbSNP gnomAD v4 |
2 | g.233768350G>A | CA431859921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1206G>A (p.Glu402=) c.1218G>A (p.Glu406=) c.1212G>A (p.Glu404=) c.1215G>A (p.Glu405=) c.411G>A (p.Glu137=) | gnomAD v4 |
2 | g.233768350G>C | CA351074959 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1206G>C (p.Glu402Asp) c.1218G>C (p.Glu406Asp) c.1212G>C (p.Glu404Asp) c.1215G>C (p.Glu405Asp) c.411G>C (p.Glu137Asp) | |
2 | g.233768350G>T | CA351074960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1206G>T (p.Glu402Asp) c.1218G>T (p.Glu406Asp) c.1212G>T (p.Glu404Asp) c.1215G>T (p.Glu405Asp) c.411G>T (p.Glu137Asp) | |
2 | g.233768351A>C | CA351074961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1207A>C (p.Thr403Pro) c.1219A>C (p.Thr407Pro) c.1213A>C (p.Thr405Pro) c.1216A>C (p.Thr406Pro) c.412A>C (p.Thr138Pro) | |
2 | g.233768351A>G | CA351074963 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1207A>G (p.Thr403Ala) c.1219A>G (p.Thr407Ala) c.1213A>G (p.Thr405Ala) c.1216A>G (p.Thr406Ala) c.412A>G (p.Thr138Ala) | |
2 | g.233768351A>T | CA351074962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1207A>T (p.Thr403Ser) c.1219A>T (p.Thr407Ser) c.1213A>T (p.Thr405Ser) c.1216A>T (p.Thr406Ser) c.412A>T (p.Thr138Ser) | |
2 | g.233768352C>A | CA351074964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1208C>A (p.Thr403Asn) c.1220C>A (p.Thr407Asn) c.1214C>A (p.Thr405Asn) c.1217C>A (p.Thr406Asn) c.413C>A (p.Thr138Asn) | |
2 | g.233768352C>G | CA351074965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1208C>G (p.Thr403Ser) c.1220C>G (p.Thr407Ser) c.1214C>G (p.Thr405Ser) c.1217C>G (p.Thr406Ser) c.413C>G (p.Thr138Ser) | |
2 | g.233768352C>T | CA351074966 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1208C>T (p.Thr403Ile) c.1220C>T (p.Thr407Ile) c.1214C>T (p.Thr405Ile) c.1217C>T (p.Thr406Ile) c.413C>T (p.Thr138Ile) | |
2 | g.233768353T>A | CA431859946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1209T>A (p.Thr403=) c.1221T>A (p.Thr407=) c.1215T>A (p.Thr405=) c.1218T>A (p.Thr406=) c.414T>A (p.Thr138=) | |
2 | g.233768353T>C | CA431859944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1209T>C (p.Thr403=) c.1221T>C (p.Thr407=) c.1215T>C (p.Thr405=) c.1218T>C (p.Thr406=) c.414T>C (p.Thr138=) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768353T>G | CA431859948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1209T>G (p.Thr403=) c.1221T>G (p.Thr407=) c.1215T>G (p.Thr405=) c.1218T>G (p.Thr406=) c.414T>G (p.Thr138=) | dbSNP |
2 | g.233768353T= | CA1335895301 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1209T= (p.Thr403=) c.1221T= (p.Thr407=) c.1215T= (p.Thr405=) c.1218T= (p.Thr406=) c.414T= (p.Thr138=) | |
2 | g.233768353_233768354delinsTA | CA1335895300 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1209_1210delinsTA (p.Thr403=) c.1221_1222delinsTA (p.Thr407=) c.1215_1216delinsTA (p.Thr405=) c.1218_1219delinsTA (p.Thr406=) c.414_415delinsTA (p.Thr138=) | |
2 | g.233768354A>C | CA351074967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1210A>C (p.Lys404Gln) c.1222A>C (p.Lys408Gln) c.1216A>C (p.Lys406Gln) c.1219A>C (p.Lys407Gln) c.415A>C (p.Lys139Gln) | |
2 | g.233768354A>G | CA351074968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1210A>G (p.Lys404Glu) c.1222A>G (p.Lys408Glu) c.1216A>G (p.Lys406Glu) c.1219A>G (p.Lys407Glu) c.415A>G (p.Lys139Glu) | |
2 | g.233768354A>T | CA351074969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1210A>T (p.Lys404Ter) c.1222A>T (p.Lys408Ter) c.1216A>T (p.Lys406Ter) c.1219A>T (p.Lys407Ter) c.415A>T (p.Lys139Ter) | |
2 | g.233768355del | CA67596423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1211del (p.Lys404ArgfsTer5) c.1223del (p.Lys408ArgfsTer5) c.1217del (p.Lys406ArgfsTer5) c.1220del (p.Lys407ArgfsTer5) c.416del (p.Lys139ArgfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768355A= | CA1335895302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1211A= (p.Lys404=) c.1223A= (p.Lys408=) c.1217A= (p.Lys406=) c.1220A= (p.Lys407=) c.416A= (p.Lys139=) | |
2 | g.233768355A>C | CA351074970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1211A>C (p.Lys404Thr) c.1223A>C (p.Lys408Thr) c.1217A>C (p.Lys406Thr) c.1220A>C (p.Lys407Thr) c.416A>C (p.Lys139Thr) | |
2 | g.233768355A>G | CA351074971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1211A>G (p.Lys404Arg) c.1223A>G (p.Lys408Arg) c.1217A>G (p.Lys406Arg) c.1220A>G (p.Lys407Arg) c.416A>G (p.Lys139Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768355A>T | CA351074972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1211A>T (p.Lys404Met) c.1223A>T (p.Lys408Met) c.1217A>T (p.Lys406Met) c.1220A>T (p.Lys407Met) c.416A>T (p.Lys139Met) | |
2 | g.233768356G>A | CA431859976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1212G>A (p.Lys404=) c.1224G>A (p.Lys408=) c.1218G>A (p.Lys406=) c.1221G>A (p.Lys407=) c.417G>A (p.Lys139=) | |
2 | g.233768356G>C | CA351074974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1212G>C (p.Lys404Asn) c.1224G>C (p.Lys408Asn) c.1218G>C (p.Lys406Asn) c.1221G>C (p.Lys407Asn) c.417G>C (p.Lys139Asn) | |
2 | g.233768356G>T | CA351074973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1212G>T (p.Lys404Asn) c.1224G>T (p.Lys408Asn) c.1218G>T (p.Lys406Asn) c.1221G>T (p.Lys407Asn) c.417G>T (p.Lys139Asn) | |
2 | g.233768358dup | CA2180035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1214dup (p.Ala406SerfsTer13) c.1226dup (p.Ala410SerfsTer13) c.1220dup (p.Ala408SerfsTer13) c.1223dup (p.Ala409SerfsTer13) c.419dup (p.Ala141SerfsTer13) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768357G>A | CA351074975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1213G>A (p.Gly405Arg) c.1225G>A (p.Gly409Arg) c.1219G>A (p.Gly407Arg) c.1222G>A (p.Gly408Arg) c.418G>A (p.Gly140Arg) | gnomAD v4 |
2 | g.233768357G>C | CA351074976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1213G>C (p.Gly405Arg) c.1225G>C (p.Gly409Arg) c.1219G>C (p.Gly407Arg) c.1222G>C (p.Gly408Arg) c.418G>C (p.Gly140Arg) | |
2 | g.233768357G>T | CA351074977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1213G>T (p.Gly405Ter) c.1225G>T (p.Gly409Ter) c.1219G>T (p.Gly407Ter) c.1222G>T (p.Gly408Ter) c.418G>T (p.Gly140Ter) | |
2 | g.233768358G>A | CA2180036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1214G>A (p.Gly405Glu) c.1226G>A (p.Gly409Glu) c.1220G>A (p.Gly407Glu) c.1223G>A (p.Gly408Glu) c.419G>A (p.Gly140Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768358G>C | CA351074978 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1214G>C (p.Gly405Ala) c.1226G>C (p.Gly409Ala) c.1220G>C (p.Gly407Ala) c.1223G>C (p.Gly408Ala) c.419G>C (p.Gly140Ala) | |
2 | g.233768358G= | CA1335895303 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1214G= (p.Gly405=) c.1226G= (p.Gly409=) c.1220G= (p.Gly407=) c.1223G= (p.Gly408=) c.419G= (p.Gly140=) | |
2 | g.233768358G>T | CA351074979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1214G>T (p.Gly405Val) c.1226G>T (p.Gly409Val) c.1220G>T (p.Gly407Val) c.1223G>T (p.Gly408Val) c.419G>T (p.Gly140Val) | |
2 | g.233768359A>C | CA431859995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1215A>C (p.Gly405=) c.1227A>C (p.Gly409=) c.1221A>C (p.Gly407=) c.1224A>C (p.Gly408=) c.420A>C (p.Gly140=) | |
2 | g.233768359A>G | CA431859993 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1215A>G (p.Gly405=) c.1227A>G (p.Gly409=) c.1221A>G (p.Gly407=) c.1224A>G (p.Gly408=) c.420A>G (p.Gly140=) | |
2 | g.233768359A>T | CA431859997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1215A>T (p.Gly405=) c.1227A>T (p.Gly409=) c.1221A>T (p.Gly407=) c.1224A>T (p.Gly408=) c.420A>T (p.Gly140=) | |
2 | g.233768360G>A | CA351074980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1216G>A (p.Ala406Thr) c.1228G>A (p.Ala410Thr) c.1222G>A (p.Ala408Thr) c.1225G>A (p.Ala409Thr) c.421G>A (p.Ala141Thr) | |
2 | g.233768360G>C | CA351074981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1216G>C (p.Ala406Pro) c.1228G>C (p.Ala410Pro) c.1222G>C (p.Ala408Pro) c.1225G>C (p.Ala409Pro) c.421G>C (p.Ala141Pro) | |
2 | g.233768360G>T | CA351074982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1216G>T (p.Ala406Ser) c.1228G>T (p.Ala410Ser) c.1222G>T (p.Ala408Ser) c.1225G>T (p.Ala409Ser) c.421G>T (p.Ala141Ser) | |
2 | g.233768361C>A | CA351074983 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1217C>A (p.Ala406Asp) c.1229C>A (p.Ala410Asp) c.1223C>A (p.Ala408Asp) c.1226C>A (p.Ala409Asp) c.422C>A (p.Ala141Asp) | |
2 | g.233768361C= | CA1335895304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1217C= (p.Ala406=) c.1229C= (p.Ala410=) c.1223C= (p.Ala408=) c.1226C= (p.Ala409=) c.422C= (p.Ala141=) | |
2 | g.233768361C>G | CA351074984 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1217C>G (p.Ala406Gly) c.1229C>G (p.Ala410Gly) c.1223C>G (p.Ala408Gly) c.1226C>G (p.Ala409Gly) c.422C>G (p.Ala141Gly) | |
2 | g.233768361C>T | CA351074985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1217C>T (p.Ala406Val) c.1229C>T (p.Ala410Val) c.1223C>T (p.Ala408Val) c.1226C>T (p.Ala409Val) c.422C>T (p.Ala141Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233768362T>A | CA431860020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1218T>A (p.Ala406=) c.1230T>A (p.Ala410=) c.1224T>A (p.Ala408=) c.1227T>A (p.Ala409=) c.423T>A (p.Ala141=) | |
2 | g.233768362T>C | CA431860023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1218T>C (p.Ala406=) c.1230T>C (p.Ala410=) c.1224T>C (p.Ala408=) c.1227T>C (p.Ala409=) c.423T>C (p.Ala141=) | |
2 | g.233768362T>G | CA431860022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1218T>G (p.Ala406=) c.1230T>G (p.Ala410=) c.1224T>G (p.Ala408=) c.1227T>G (p.Ala409=) c.423T>G (p.Ala141=) | |
2 | g.233768363G>A | CA351074987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1219G>A (p.Gly407Arg) c.1231G>A (p.Gly411Arg) c.1225G>A (p.Gly409Arg) c.1228G>A (p.Gly410Arg) c.424G>A (p.Gly142Arg) | |
2 | g.233768363G>C | CA351074988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1219G>C (p.Gly407Arg) c.1231G>C (p.Gly411Arg) c.1225G>C (p.Gly409Arg) c.1228G>C (p.Gly410Arg) c.424G>C (p.Gly142Arg) | |
2 | g.233768363G>T | CA351074986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1219G>T (p.Gly407Ter) c.1231G>T (p.Gly411Ter) c.1225G>T (p.Gly409Ter) c.1228G>T (p.Gly410Ter) c.424G>T (p.Gly142Ter) | |
2 | g.233768364G>A | CA351074990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1220G>A (p.Gly407Glu) c.1232G>A (p.Gly411Glu) c.1226G>A (p.Gly409Glu) c.1229G>A (p.Gly410Glu) c.425G>A (p.Gly142Glu) | ClinVar dbSNP |
2 | g.233768364G>C | CA351074989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1220G>C (p.Gly407Ala) c.1232G>C (p.Gly411Ala) c.1226G>C (p.Gly409Ala) c.1229G>C (p.Gly410Ala) c.425G>C (p.Gly142Ala) | gnomAD v4 |
2 | g.233768364G= | CA1335895305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1220G= (p.Gly407=) c.1232G= (p.Gly411=) c.1226G= (p.Gly409=) c.1229G= (p.Gly410=) c.425G= (p.Gly142=) | |
2 | g.233768364G>T | CA351074991 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1220G>T (p.Gly407Val) c.1232G>T (p.Gly411Val) c.1226G>T (p.Gly409Val) c.1229G>T (p.Gly410Val) c.425G>T (p.Gly142Val) | gnomAD v4 |
2 | g.233768365A>C | CA431860036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1221A>C (p.Gly407=) c.1233A>C (p.Gly411=) c.1227A>C (p.Gly409=) c.1230A>C (p.Gly410=) c.426A>C (p.Gly142=) | |
2 | g.233768365A>G | CA431860039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1221A>G (p.Gly407=) c.1233A>G (p.Gly411=) c.1227A>G (p.Gly409=) c.1230A>G (p.Gly410=) c.426A>G (p.Gly142=) | |
2 | g.233768365A>T | CA431860043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1221A>T (p.Gly407=) c.1233A>T (p.Gly411=) c.1227A>T (p.Gly409=) c.1230A>T (p.Gly410=) c.426A>T (p.Gly142=) | |
2 | g.233768366G>A | CA351074992 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1222G>A (p.Val408Met) c.1234G>A (p.Val412Met) c.1228G>A (p.Val410Met) c.1231G>A (p.Val411Met) c.427G>A (p.Val143Met) | dbSNP gnomAD v4 |
2 | g.233768366G>C | CA351074993 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1222G>C (p.Val408Leu) c.1234G>C (p.Val412Leu) c.1228G>C (p.Val410Leu) c.1231G>C (p.Val411Leu) c.427G>C (p.Val143Leu) | |
2 | g.233768366G= | CA1335895306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1222G= (p.Val408=) c.1234G= (p.Val412=) c.1228G= (p.Val410=) c.1231G= (p.Val411=) c.427G= (p.Val143=) | |
2 | g.233768366G>T | CA173822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1222G>T (p.Val408Leu) c.1234G>T (p.Val412Leu) c.1228G>T (p.Val410Leu) c.1231G>T (p.Val411Leu) c.427G>T (p.Val143Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768367T>A | CA351074994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1223T>A (p.Val408Glu) c.1235T>A (p.Val412Glu) c.1229T>A (p.Val410Glu) c.1232T>A (p.Val411Glu) c.428T>A (p.Val143Glu) | |
2 | g.233768367T>C | CA351074995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1223T>C (p.Val408Ala) c.1235T>C (p.Val412Ala) c.1229T>C (p.Val410Ala) c.1232T>C (p.Val411Ala) c.428T>C (p.Val143Ala) | gnomAD v4 |
2 | g.233768367T>G | CA351074996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1223T>G (p.Val408Gly) c.1235T>G (p.Val412Gly) c.1229T>G (p.Val410Gly) c.1232T>G (p.Val411Gly) c.428T>G (p.Val143Gly) | |
2 | g.233768368G>A | CA431860062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1224G>A (p.Val408=) c.1236G>A (p.Val412=) c.1230G>A (p.Val410=) c.1233G>A (p.Val411=) c.429G>A (p.Val143=) | |
2 | g.233768368G>C | CA431860057 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1224G>C (p.Val408=) c.1236G>C (p.Val412=) c.1230G>C (p.Val410=) c.1233G>C (p.Val411=) c.429G>C (p.Val143=) | |
2 | g.233768368G= | CA1335895307 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1224G= (p.Val408=) c.1236G= (p.Val412=) c.1230G= (p.Val410=) c.1233G= (p.Val411=) c.429G= (p.Val143=) | |
2 | g.233768368G>T | CA431860059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1224G>T (p.Val408=) c.1236G>T (p.Val412=) c.1230G>T (p.Val410=) c.1233G>T (p.Val411=) c.429G>T (p.Val143=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233768369A= | CA1335895308 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1225A= (p.Thr409=) c.1237A= (p.Thr413=) c.1231A= (p.Thr411=) c.1234A= (p.Thr412=) c.430A= (p.Thr144=) | |
2 | g.233768369A>C | CA351074997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1225A>C (p.Thr409Pro) c.1237A>C (p.Thr413Pro) c.1231A>C (p.Thr411Pro) c.1234A>C (p.Thr412Pro) c.430A>C (p.Thr144Pro) | |
2 | g.233768369A>G | CA351074998 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1225A>G (p.Thr409Ala) c.1237A>G (p.Thr413Ala) c.1231A>G (p.Thr411Ala) c.1234A>G (p.Thr412Ala) c.430A>G (p.Thr144Ala) | |
2 | g.233768369A>T | CA351074999 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1225A>T (p.Thr409Ser) c.1237A>T (p.Thr413Ser) c.1231A>T (p.Thr411Ser) c.1234A>T (p.Thr412Ser) c.430A>T (p.Thr144Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233768370C>A | CA351075000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1226C>A (p.Thr409Asn) c.1238C>A (p.Thr413Asn) c.1232C>A (p.Thr411Asn) c.1235C>A (p.Thr412Asn) c.431C>A (p.Thr144Asn) | |
2 | g.233768370C= | CA1335895309 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1226C= (p.Thr409=) c.1238C= (p.Thr413=) c.1232C= (p.Thr411=) c.1235C= (p.Thr412=) c.431C= (p.Thr144=) | |
2 | g.233768370C>G | CA351075001 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1226C>G (p.Thr409Ser) c.1238C>G (p.Thr413Ser) c.1232C>G (p.Thr411Ser) c.1235C>G (p.Thr412Ser) c.431C>G (p.Thr144Ser) | |
2 | g.233768370C>T | CA351075002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1226C>T (p.Thr409Ile) c.1238C>T (p.Thr413Ile) c.1232C>T (p.Thr411Ile) c.1235C>T (p.Thr412Ile) c.431C>T (p.Thr144Ile) | dbSNP |
2 | g.233768371C>A | CA431860079 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1227C>A (p.Thr409=) c.1239C>A (p.Thr413=) c.1233C>A (p.Thr411=) c.1236C>A (p.Thr412=) c.432C>A (p.Thr144=) | |
2 | g.233768371C>G | CA431860081 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1227C>G (p.Thr409=) c.1239C>G (p.Thr413=) c.1233C>G (p.Thr411=) c.1236C>G (p.Thr412=) c.432C>G (p.Thr144=) | |
2 | g.233768371C>T | CA431860084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1227C>T (p.Thr409=) c.1239C>T (p.Thr413=) c.1233C>T (p.Thr411=) c.1236C>T (p.Thr412=) c.432C>T (p.Thr144=) | gnomAD v4 |
2 | g.233768372C>A | CA351075003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1228C>A (p.Leu410Met) c.1240C>A (p.Leu414Met) c.1234C>A (p.Leu412Met) c.1237C>A (p.Leu413Met) c.433C>A (p.Leu145Met) | gnomAD v4 |
2 | g.233768372C>G | CA351075004 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1228C>G (p.Leu410Val) c.1240C>G (p.Leu414Val) c.1234C>G (p.Leu412Val) c.1237C>G (p.Leu413Val) c.433C>G (p.Leu145Val) | |
2 | g.233768372C>T | CA431860091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1228C>T (p.Leu410=) c.1240C>T (p.Leu414=) c.1234C>T (p.Leu412=) c.1237C>T (p.Leu413=) c.433C>T (p.Leu145=) | |
2 | g.233768373T>A | CA351075005 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1229T>A (p.Leu410Gln) c.1241T>A (p.Leu414Gln) c.1235T>A (p.Leu412Gln) c.1238T>A (p.Leu413Gln) c.434T>A (p.Leu145Gln) | |
2 | g.233768373T>C | CA351075006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1229T>C (p.Leu410Pro) c.1241T>C (p.Leu414Pro) c.1235T>C (p.Leu412Pro) c.1238T>C (p.Leu413Pro) c.434T>C (p.Leu145Pro) | |
2 | g.233768373T>G | CA351075007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1229T>G (p.Leu410Arg) c.1241T>G (p.Leu414Arg) c.1235T>G (p.Leu412Arg) c.1238T>G (p.Leu413Arg) c.434T>G (p.Leu145Arg) | |
2 | g.233768374G>A | CA431860107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1230G>A (p.Leu410=) c.1242G>A (p.Leu414=) c.1236G>A (p.Leu412=) c.1239G>A (p.Leu413=) c.435G>A (p.Leu145=) | |
2 | g.233768374G>C | CA431860102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1230G>C (p.Leu410=) c.1242G>C (p.Leu414=) c.1236G>C (p.Leu412=) c.1239G>C (p.Leu413=) c.435G>C (p.Leu145=) | |
2 | g.233768374G>T | CA431860104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1230G>T (p.Leu410=) c.1242G>T (p.Leu414=) c.1236G>T (p.Leu412=) c.1239G>T (p.Leu413=) c.435G>T (p.Leu145=) | gnomAD v4 |
2 | g.233768375A>C | CA351075008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1231A>C (p.Asn411His) c.1243A>C (p.Asn415His) c.1237A>C (p.Asn413His) c.1240A>C (p.Asn414His) c.436A>C (p.Asn146His) | gnomAD v4 |
2 | g.233768375A>G | CA351075009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1231A>G (p.Asn411Asp) c.1243A>G (p.Asn415Asp) c.1237A>G (p.Asn413Asp) c.1240A>G (p.Asn414Asp) c.436A>G (p.Asn146Asp) | |
2 | g.233768375A>T | CA351075010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1231A>T (p.Asn411Tyr) c.1243A>T (p.Asn415Tyr) c.1237A>T (p.Asn413Tyr) c.1240A>T (p.Asn414Tyr) c.436A>T (p.Asn146Tyr) | |
2 | g.233768376A>C | CA351075011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1232A>C (p.Asn411Thr) c.1244A>C (p.Asn415Thr) c.1238A>C (p.Asn413Thr) c.1241A>C (p.Asn414Thr) c.437A>C (p.Asn146Thr) | |
2 | g.233768376A>G | CA351075012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1232A>G (p.Asn411Ser) c.1244A>G (p.Asn415Ser) c.1238A>G (p.Asn413Ser) c.1241A>G (p.Asn414Ser) c.437A>G (p.Asn146Ser) | gnomAD v4 |
2 | g.233768376A>T | CA351075013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1232A>T (p.Asn411Ile) c.1244A>T (p.Asn415Ile) c.1238A>T (p.Asn413Ile) c.1241A>T (p.Asn414Ile) c.437A>T (p.Asn146Ile) | |
2 | g.233768377T>A | CA2180037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1233T>A (p.Asn411Lys) c.1245T>A (p.Asn415Lys) c.1239T>A (p.Asn413Lys) c.1242T>A (p.Asn414Lys) c.438T>A (p.Asn146Lys) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.233768377T>C | CA431860119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1233T>C (p.Asn411=) c.1245T>C (p.Asn415=) c.1239T>C (p.Asn413=) c.1242T>C (p.Asn414=) c.438T>C (p.Asn146=) | |
2 | g.233768377T>G | CA351075014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1233T>G (p.Asn411Lys) c.1245T>G (p.Asn415Lys) c.1239T>G (p.Asn413Lys) c.1242T>G (p.Asn414Lys) c.438T>G (p.Asn146Lys) | |
2 | g.233768377T= | CA1335895310 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1233T= (p.Asn411=) c.1245T= (p.Asn415=) c.1239T= (p.Asn413=) c.1242T= (p.Asn414=) c.438T= (p.Asn146=) | |
2 | g.233768378G>A | CA351075016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1234G>A (p.Val412Ile) c.1246G>A (p.Val416Ile) c.1240G>A (p.Val414Ile) c.1243G>A (p.Val415Ile) c.439G>A (p.Val147Ile) | |
2 | g.233768378G>C | CA351075017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1234G>C (p.Val412Leu) c.1246G>C (p.Val416Leu) c.1240G>C (p.Val414Leu) c.1243G>C (p.Val415Leu) c.439G>C (p.Val147Leu) | |
2 | g.233768378G>T | CA351075015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1234G>T (p.Val412Phe) c.1246G>T (p.Val416Phe) c.1240G>T (p.Val414Phe) c.1243G>T (p.Val415Phe) c.439G>T (p.Val147Phe) | gnomAD v4 |
2 | g.233768379T>A | CA351075018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1235T>A (p.Val412Asp) c.1247T>A (p.Val416Asp) c.1241T>A (p.Val414Asp) c.1244T>A (p.Val415Asp) c.440T>A (p.Val147Asp) | |
2 | g.233768379T>C | CA351075019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1235T>C (p.Val412Ala) c.1247T>C (p.Val416Ala) c.1241T>C (p.Val414Ala) c.1244T>C (p.Val415Ala) c.440T>C (p.Val147Ala) | |
2 | g.233768379T>G | CA351075020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1235T>G (p.Val412Gly) c.1247T>G (p.Val416Gly) c.1241T>G (p.Val414Gly) c.1244T>G (p.Val415Gly) c.440T>G (p.Val147Gly) | |
2 | g.233768380T>A | CA431860144 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1236T>A (p.Val412=) c.1248T>A (p.Val416=) c.1242T>A (p.Val414=) c.1245T>A (p.Val415=) c.441T>A (p.Val147=) | |
2 | g.233768380T>C | CA431860138 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1236T>C (p.Val412=) c.1248T>C (p.Val416=) c.1242T>C (p.Val414=) c.1245T>C (p.Val415=) c.441T>C (p.Val147=) | dbSNP |
2 | g.233768380T>G | CA431860141 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1236T>G (p.Val412=) c.1248T>G (p.Val416=) c.1242T>G (p.Val414=) c.1245T>G (p.Val415=) c.441T>G (p.Val147=) | |
2 | g.233768380T= | CA1335895311 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1236T= (p.Val412=) c.1248T= (p.Val416=) c.1242T= (p.Val414=) c.1245T= (p.Val415=) c.441T= (p.Val147=) | |
2 | g.233768381C>A | CA351075021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1237C>A (p.Leu413Met) c.1249C>A (p.Leu417Met) c.1243C>A (p.Leu415Met) c.1246C>A (p.Leu416Met) c.442C>A (p.Leu148Met) | |
2 | g.233768381C= | CA1335895312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1237C= (p.Leu413=) c.1249C= (p.Leu417=) c.1243C= (p.Leu415=) c.1246C= (p.Leu416=) c.442C= (p.Leu148=) | |
2 | g.233768381C>G | CA351075022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1237C>G (p.Leu413Val) c.1249C>G (p.Leu417Val) c.1243C>G (p.Leu415Val) c.1246C>G (p.Leu416Val) c.442C>G (p.Leu148Val) | |
2 | g.233768381C>T | CA2180038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1237C>T (p.Leu413=) c.1249C>T (p.Leu417=) c.1243C>T (p.Leu415=) c.1246C>T (p.Leu416=) c.442C>T (p.Leu148=) | dbSNP ExAC gnomAD v4 |
2 | g.233768382T>A | CA351075023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1238T>A (p.Leu413Gln) c.1250T>A (p.Leu417Gln) c.1244T>A (p.Leu415Gln) c.1247T>A (p.Leu416Gln) c.443T>A (p.Leu148Gln) | |
2 | g.233768382T>C | CA351075024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1238T>C (p.Leu413Pro) c.1250T>C (p.Leu417Pro) c.1244T>C (p.Leu415Pro) c.1247T>C (p.Leu416Pro) c.443T>C (p.Leu148Pro) | |
2 | g.233768382T>G | CA351075025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1238T>G (p.Leu413Arg) c.1250T>G (p.Leu417Arg) c.1244T>G (p.Leu415Arg) c.1247T>G (p.Leu416Arg) c.443T>G (p.Leu148Arg) | |
2 | g.233768383G>A | CA431860164 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1239G>A (p.Leu413=) c.1251G>A (p.Leu417=) c.1245G>A (p.Leu415=) c.1248G>A (p.Leu416=) c.444G>A (p.Leu148=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768383G>C | CA431860162 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1239G>C (p.Leu413=) c.1251G>C (p.Leu417=) c.1245G>C (p.Leu415=) c.1248G>C (p.Leu416=) c.444G>C (p.Leu148=) | |
2 | g.233768383G>T | CA431860166 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1239G>T (p.Leu413=) c.1251G>T (p.Leu417=) c.1245G>T (p.Leu415=) c.1248G>T (p.Leu416=) c.444G>T (p.Leu148=) | |
2 | g.233768384G>A | CA351075026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1240G>A (p.Glu414Lys) c.1252G>A (p.Glu418Lys) c.1246G>A (p.Glu416Lys) c.1249G>A (p.Glu417Lys) c.445G>A (p.Glu149Lys) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233768384G>C | CA351075027 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1240G>C (p.Glu414Gln) c.1252G>C (p.Glu418Gln) c.1246G>C (p.Glu416Gln) c.1249G>C (p.Glu417Gln) c.445G>C (p.Glu149Gln) | |
2 | g.233768384G>T | CA351075028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1240G>T (p.Glu414Ter) c.1252G>T (p.Glu418Ter) c.1246G>T (p.Glu416Ter) c.1249G>T (p.Glu417Ter) c.445G>T (p.Glu149Ter) | |
2 | g.233768385A>C | CA351075030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1241A>C (p.Glu414Ala) c.1253A>C (p.Glu418Ala) c.1247A>C (p.Glu416Ala) c.1250A>C (p.Glu417Ala) c.446A>C (p.Glu149Ala) | |
2 | g.233768385A>G | CA351075031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1241A>G (p.Glu414Gly) c.1253A>G (p.Glu418Gly) c.1247A>G (p.Glu416Gly) c.1250A>G (p.Glu417Gly) c.446A>G (p.Glu149Gly) | |
2 | g.233768385A>T | CA351075029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1241A>T (p.Glu414Val) c.1253A>T (p.Glu418Val) c.1247A>T (p.Glu416Val) c.1250A>T (p.Glu417Val) c.446A>T (p.Glu149Val) | |
2 | g.233768387del | CA2663717388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1243del (p.Met415Ter) c.1255del (p.Met419Ter) c.1249del (p.Met417Ter) c.1252del (p.Met418Ter) c.448del (p.Met150Ter) | gnomAD v4 |
2 | g.233768386A>C | CA351075032 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1242A>C (p.Glu414Asp) c.1254A>C (p.Glu418Asp) c.1248A>C (p.Glu416Asp) c.1251A>C (p.Glu417Asp) c.447A>C (p.Glu149Asp) | |
2 | g.233768386A>G | CA431860187 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1242A>G (p.Glu414=) c.1254A>G (p.Glu418=) c.1248A>G (p.Glu416=) c.1251A>G (p.Glu417=) c.447A>G (p.Glu149=) | |
2 | g.233768386A>T | CA351075033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1242A>T (p.Glu414Asp) c.1254A>T (p.Glu418Asp) c.1248A>T (p.Glu416Asp) c.1251A>T (p.Glu417Asp) c.447A>T (p.Glu149Asp) | |
2 | g.233768387A>C | CA351075034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1243A>C (p.Met415Leu) c.1255A>C (p.Met419Leu) c.1249A>C (p.Met417Leu) c.1252A>C (p.Met418Leu) c.448A>C (p.Met150Leu) | |
2 | g.233768387A>G | CA351075035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1243A>G (p.Met415Val) c.1255A>G (p.Met419Val) c.1249A>G (p.Met417Val) c.1252A>G (p.Met418Val) c.448A>G (p.Met150Val) | |
2 | g.233768387A>T | CA351075036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1243A>T (p.Met415Leu) c.1255A>T (p.Met419Leu) c.1249A>T (p.Met417Leu) c.1252A>T (p.Met418Leu) c.448A>T (p.Met150Leu) | |
2 | g.233768387_233768388delinsAT | CA1335895313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1243_1244delinsAT (p.Met415=) c.1255_1256delinsAT (p.Met419=) c.1249_1250delinsAT (p.Met417=) c.1252_1253delinsAT (p.Met418=) c.448_449delinsAT (p.Met150=) |