Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233772286C>A | CA431862244 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1320C>A (p.Leu440=) c.1332C>A (p.Leu444=) c.1326C>A (p.Leu442=) c.1329C>A (p.Leu443=) c.525C>A (p.Leu175=) c.*128C>A (n.*128C>A) c.1466C>A (n.1466C>A) | |
2 | g.233772286C= | CA1335897004 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1320C= (p.Leu440=) c.1332C= (p.Leu444=) c.1326C= (p.Leu442=) c.1329C= (p.Leu443=) c.525C= (p.Leu175=) c.*128C= (n.*128C=) c.1466C= (n.1466C=) | |
2 | g.233772286C>G | CA431862238 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1320C>G (p.Leu440=) c.1332C>G (p.Leu444=) c.1326C>G (p.Leu442=) c.1329C>G (p.Leu443=) c.525C>G (p.Leu175=) c.*128C>G (n.*128C>G) c.1466C>G (n.1466C>G) | |
2 | g.233772286C>T | CA431862241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1320C>T (p.Leu440=) c.1332C>T (p.Leu444=) c.1326C>T (p.Leu442=) c.1329C>T (p.Leu443=) c.525C>T (p.Leu175=) c.*128C>T (n.*128C>T) c.1466C>T (n.1466C>T) | dbSNP gnomAD v4 |
2 | g.233772287T>A | CA351075942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1321T>A (p.Ser441Thr) c.1333T>A (p.Ser445Thr) c.1327T>A (p.Ser443Thr) c.1330T>A (p.Ser444Thr) c.526T>A (p.Ser176Thr) c.*129T>A (n.*129T>A) c.1467T>A (n.1467T>A) | |
2 | g.233772287T>C | CA351075943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1321T>C (p.Ser441Pro) c.1333T>C (p.Ser445Pro) c.1327T>C (p.Ser443Pro) c.1330T>C (p.Ser444Pro) c.526T>C (p.Ser176Pro) c.*129T>C (n.*129T>C) c.1467T>C (n.1467T>C) | dbSNP gnomAD v4 |
2 | g.233772287T>G | CA351075944 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1321T>G (p.Ser441Ala) c.1333T>G (p.Ser445Ala) c.1327T>G (p.Ser443Ala) c.1330T>G (p.Ser444Ala) c.526T>G (p.Ser176Ala) c.*129T>G (n.*129T>G) c.1467T>G (n.1467T>G) | |
2 | g.233772287T= | CA1335897005 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1321T= (p.Ser441=) c.1333T= (p.Ser445=) c.1327T= (p.Ser443=) c.1330T= (p.Ser444=) c.526T= (p.Ser176=) c.*129T= (n.*129T=) c.1467T= (n.1467T=) | |
2 | g.233772288C>A | CA351075946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1322C>A (p.Ser441Tyr) c.1334C>A (p.Ser445Tyr) c.1328C>A (p.Ser443Tyr) c.1331C>A (p.Ser444Tyr) c.527C>A (p.Ser176Tyr) c.*130C>A (n.*130C>A) c.1468C>A (n.1468C>A) | |
2 | g.233772288C>G | CA351075950 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1322C>G (p.Ser441Cys) c.1334C>G (p.Ser445Cys) c.1328C>G (p.Ser443Cys) c.1331C>G (p.Ser444Cys) c.527C>G (p.Ser176Cys) c.*130C>G (n.*130C>G) c.1468C>G (n.1468C>G) | |
2 | g.233772288C>T | CA351075948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1322C>T (p.Ser441Phe) c.1334C>T (p.Ser445Phe) c.1328C>T (p.Ser443Phe) c.1331C>T (p.Ser444Phe) c.527C>T (p.Ser176Phe) c.*130C>T (n.*130C>T) c.1468C>T (n.1468C>T) | |
2 | g.233772289C>A | CA431862267 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1323C>A (p.Ser441=) c.1335C>A (p.Ser445=) c.1329C>A (p.Ser443=) c.1332C>A (p.Ser444=) c.528C>A (p.Ser176=) c.*131C>A (n.*131C>A) c.1469C>A (n.1469C>A) | |
2 | g.233772289C>G | CA431862270 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1323C>G (p.Ser441=) c.1335C>G (p.Ser445=) c.1329C>G (p.Ser443=) c.1332C>G (p.Ser444=) c.528C>G (p.Ser176=) c.*131C>G (n.*131C>G) c.1469C>G (n.1469C>G) | |
2 | g.233772289C>T | CA431862264 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1323C>T (p.Ser441=) c.1335C>T (p.Ser445=) c.1329C>T (p.Ser443=) c.1332C>T (p.Ser444=) c.528C>T (p.Ser176=) c.*131C>T (n.*131C>T) c.1469C>T (n.1469C>T) | gnomAD v4 |
2 | g.233772290A>C | CA351075953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1324A>C (p.Ser442Arg) c.1336A>C (p.Ser446Arg) c.1330A>C (p.Ser444Arg) c.1333A>C (p.Ser445Arg) c.529A>C (p.Ser177Arg) c.*132A>C (n.*132A>C) c.1470A>C (n.1470A>C) | |
2 | g.233772290A>G | CA351075954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1324A>G (p.Ser442Gly) c.1336A>G (p.Ser446Gly) c.1330A>G (p.Ser444Gly) c.1333A>G (p.Ser445Gly) c.529A>G (p.Ser177Gly) c.*132A>G (n.*132A>G) c.1470A>G (n.1470A>G) | gnomAD v4 |
2 | g.233772290A>T | CA351075955 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1324A>T (p.Ser442Cys) c.1336A>T (p.Ser446Cys) c.1330A>T (p.Ser444Cys) c.1333A>T (p.Ser445Cys) c.529A>T (p.Ser177Cys) c.*132A>T (n.*132A>T) c.1470A>T (n.1470A>T) | |
2 | g.233772291G>A | CA351075956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1325G>A (p.Ser442Asn) c.1337G>A (p.Ser446Asn) c.1331G>A (p.Ser444Asn) c.1334G>A (p.Ser445Asn) c.530G>A (p.Ser177Asn) c.*133G>A (n.*133G>A) c.1471G>A (n.1471G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772291G>C | CA351075958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1325G>C (p.Ser442Thr) c.1337G>C (p.Ser446Thr) c.1331G>C (p.Ser444Thr) c.1334G>C (p.Ser445Thr) c.530G>C (p.Ser177Thr) c.*133G>C (n.*133G>C) c.1471G>C (n.1471G>C) | gnomAD v4 |
2 | g.233772291G= | CA1335897006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1325G= (p.Ser442=) c.1337G= (p.Ser446=) c.1331G= (p.Ser444=) c.1334G= (p.Ser445=) c.530G= (p.Ser177=) c.*133G= (n.*133G=) c.1471G= (n.1471G=) | |
2 | g.233772291G>T | CA351075960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1325G>T (p.Ser442Ile) c.1337G>T (p.Ser446Ile) c.1331G>T (p.Ser444Ile) c.1334G>T (p.Ser445Ile) c.530G>T (p.Ser177Ile) c.*133G>T (n.*133G>T) c.1471G>T (n.1471G>T) | COSMIC |
2 | g.233772292C>A | CA2180095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1326C>A (p.Ser442Arg) c.1338C>A (p.Ser446Arg) c.1332C>A (p.Ser444Arg) c.1335C>A (p.Ser445Arg) c.531C>A (p.Ser177Arg) c.*134C>A (n.*134C>A) c.1472C>A (n.1472C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772292C= | CA1335897007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1326C= (p.Ser442=) c.1338C= (p.Ser446=) c.1332C= (p.Ser444=) c.1335C= (p.Ser445=) c.531C= (p.Ser177=) c.*134C= (n.*134C=) c.1472C= (n.1472C=) | |
2 | g.233772292C>G | CA351075964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1326C>G (p.Ser442Arg) c.1338C>G (p.Ser446Arg) c.1332C>G (p.Ser444Arg) c.1335C>G (p.Ser445Arg) c.531C>G (p.Ser177Arg) c.*134C>G (n.*134C>G) c.1472C>G (n.1472C>G) | |
2 | g.233772292C>T | CA431862292 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1326C>T (p.Ser442=) c.1338C>T (p.Ser446=) c.1332C>T (p.Ser444=) c.1335C>T (p.Ser445=) c.531C>T (p.Ser177=) c.*134C>T (n.*134C>T) c.1472C>T (n.1472C>T) | |
2 | g.233772293C>A | CA351075967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1327C>A (p.Leu443Ile) c.1339C>A (p.Leu447Ile) c.1333C>A (p.Leu445Ile) c.1336C>A (p.Leu446Ile) c.532C>A (p.Leu178Ile) c.*135C>A (n.*135C>A) c.1473C>A (n.1473C>A) | |
2 | g.233772293C= | CA1335897008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1327C= (p.Leu443=) c.1339C= (p.Leu447=) c.1333C= (p.Leu445=) c.1336C= (p.Leu446=) c.532C= (p.Leu178=) c.*135C= (n.*135C=) c.1473C= (n.1473C=) | |
2 | g.233772293C>G | CA351075968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1327C>G (p.Leu443Val) c.1339C>G (p.Leu447Val) c.1333C>G (p.Leu445Val) c.1336C>G (p.Leu446Val) c.532C>G (p.Leu178Val) c.*135C>G (n.*135C>G) c.1473C>G (n.1473C>G) | |
2 | g.233772293C>T | CA67599409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1327C>T (p.Leu443Phe) c.1339C>T (p.Leu447Phe) c.1333C>T (p.Leu445Phe) c.1336C>T (p.Leu446Phe) c.532C>T (p.Leu178Phe) c.*135C>T (n.*135C>T) c.1473C>T (n.1473C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772294T>A | CA351075969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1328T>A (p.Leu443His) c.1340T>A (p.Leu447His) c.1334T>A (p.Leu445His) c.1337T>A (p.Leu446His) c.533T>A (p.Leu178His) c.*136T>A (n.*136T>A) c.1474T>A (n.1474T>A) | |
2 | g.233772294T>C | CA351075973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1328T>C (p.Leu443Pro) c.1340T>C (p.Leu447Pro) c.1334T>C (p.Leu445Pro) c.1337T>C (p.Leu446Pro) c.533T>C (p.Leu178Pro) c.*136T>C (n.*136T>C) c.1474T>C (n.1474T>C) | gnomAD v4 |
2 | g.233772294T>G | CA351075972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1328T>G (p.Leu443Arg) c.1340T>G (p.Leu447Arg) c.1334T>G (p.Leu445Arg) c.1337T>G (p.Leu446Arg) c.533T>G (p.Leu178Arg) c.*136T>G (n.*136T>G) c.1474T>G (n.1474T>G) | gnomAD v4 |
2 | g.233772295T>A | CA431862314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1329T>A (p.Leu443=) c.1341T>A (p.Leu447=) c.1335T>A (p.Leu445=) c.1338T>A (p.Leu446=) c.534T>A (p.Leu178=) c.*137T>A (n.*137T>A) c.1475T>A (n.1475T>A) | |
2 | g.233772295T>C | CA431862317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1329T>C (p.Leu443=) c.1341T>C (p.Leu447=) c.1335T>C (p.Leu445=) c.1338T>C (p.Leu446=) c.534T>C (p.Leu178=) c.*137T>C (n.*137T>C) c.1475T>C (n.1475T>C) | |
2 | g.233772295T>G | CA431862312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1329T>G (p.Leu443=) c.1341T>G (p.Leu447=) c.1335T>G (p.Leu445=) c.1338T>G (p.Leu446=) c.534T>G (p.Leu178=) c.*137T>G (n.*137T>G) c.1475T>G (n.1475T>G) | |
2 | g.233772296C>A | CA351075976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1330C>A (p.His444Asn) c.1342C>A (p.His448Asn) c.1336C>A (p.His446Asn) c.1339C>A (p.His447Asn) c.535C>A (p.His179Asn) c.*138C>A (n.*138C>A) c.1476C>A (n.1476C>A) | |
2 | g.233772296C>G | CA351075979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1330C>G (p.His444Asp) c.1342C>G (p.His448Asp) c.1336C>G (p.His446Asp) c.1339C>G (p.His447Asp) c.535C>G (p.His179Asp) c.*138C>G (n.*138C>G) c.1476C>G (n.1476C>G) | |
2 | g.233772296C>T | CA351075977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1330C>T (p.His444Tyr) c.1342C>T (p.His448Tyr) c.1336C>T (p.His446Tyr) c.1339C>T (p.His447Tyr) c.535C>T (p.His179Tyr) c.*138C>T (n.*138C>T) c.1476C>T (n.1476C>T) | |
2 | g.233772297A>C | CA351075981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1331A>C (p.His444Pro) c.1343A>C (p.His448Pro) c.1337A>C (p.His446Pro) c.1340A>C (p.His447Pro) c.536A>C (p.His179Pro) c.*139A>C (n.*139A>C) c.1477A>C (n.1477A>C) | |
2 | g.233772297A>G | CA351075982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1331A>G (p.His444Arg) c.1343A>G (p.His448Arg) c.1337A>G (p.His446Arg) c.1340A>G (p.His447Arg) c.536A>G (p.His179Arg) c.*139A>G (n.*139A>G) c.1477A>G (n.1477A>G) | gnomAD v4 |
2 | g.233772297A>T | CA351075986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1331A>T (p.His444Leu) c.1343A>T (p.His448Leu) c.1337A>T (p.His446Leu) c.1340A>T (p.His447Leu) c.536A>T (p.His179Leu) c.*139A>T (n.*139A>T) c.1477A>T (n.1477A>T) | |
2 | g.233772298C>A | CA351075987 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1332C>A (p.His444Gln) c.1344C>A (p.His448Gln) c.1338C>A (p.His446Gln) c.1341C>A (p.His447Gln) c.537C>A (p.His179Gln) c.*140C>A (n.*140C>A) c.1478C>A (n.1478C>A) | |
2 | g.233772298C>G | CA351075988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1332C>G (p.His444Gln) c.1344C>G (p.His448Gln) c.1338C>G (p.His446Gln) c.1341C>G (p.His447Gln) c.537C>G (p.His179Gln) c.*140C>G (n.*140C>G) c.1478C>G (n.1478C>G) | gnomAD v4 |
2 | g.233772298C>T | CA431862328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1332C>T (p.His444=) c.1344C>T (p.His448=) c.1338C>T (p.His446=) c.1341C>T (p.His447=) c.537C>T (p.His179=) c.*140C>T (n.*140C>T) c.1478C>T (n.1478C>T) | |
2 | g.233772299A>C | CA351075989 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1333A>C (p.Lys445Gln) c.1345A>C (p.Lys449Gln) c.1339A>C (p.Lys447Gln) c.1342A>C (p.Lys448Gln) c.538A>C (p.Lys180Gln) c.*141A>C (n.*141A>C) c.1479A>C (n.1479A>C) | |
2 | g.233772299A>G | CA351075994 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1333A>G (p.Lys445Glu) c.1345A>G (p.Lys449Glu) c.1339A>G (p.Lys447Glu) c.1342A>G (p.Lys448Glu) c.538A>G (p.Lys180Glu) c.*141A>G (n.*141A>G) c.1479A>G (n.1479A>G) | |
2 | g.233772299A>T | CA351075995 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1333A>T (p.Lys445Ter) c.1345A>T (p.Lys449Ter) c.1339A>T (p.Lys447Ter) c.1342A>T (p.Lys448Ter) c.538A>T (p.Lys180Ter) c.*141A>T (n.*141A>T) c.1479A>T (n.1479A>T) | |
2 | g.233772300A= | CA1335897009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1334A= (p.Lys445=) c.1346A= (p.Lys449=) c.1340A= (p.Lys447=) c.1343A= (p.Lys448=) c.539A= (p.Lys180=) c.*142A= (n.*142A=) c.1480A= (n.1480A=) | |
2 | g.233772300A>C | CA351075997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1334A>C (p.Lys445Thr) c.1346A>C (p.Lys449Thr) c.1340A>C (p.Lys447Thr) c.1343A>C (p.Lys448Thr) c.539A>C (p.Lys180Thr) c.*142A>C (n.*142A>C) c.1480A>C (n.1480A>C) | |
2 | g.233772300A>G | CA351075999 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1334A>G (p.Lys445Arg) c.1346A>G (p.Lys449Arg) c.1340A>G (p.Lys447Arg) c.1343A>G (p.Lys448Arg) c.539A>G (p.Lys180Arg) c.*142A>G (n.*142A>G) c.1480A>G (n.1480A>G) | dbSNP |
2 | g.233772300A>T | CA351076001 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1334A>T (p.Lys445Met) c.1346A>T (p.Lys449Met) c.1340A>T (p.Lys447Met) c.1343A>T (p.Lys448Met) c.539A>T (p.Lys180Met) c.*142A>T (n.*142A>T) c.1480A>T (n.1480A>T) | |
2 | g.233772301G>A | CA431862329 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1335G>A (p.Lys445=) c.1347G>A (p.Lys449=) c.1341G>A (p.Lys447=) c.1344G>A (p.Lys448=) c.540G>A (p.Lys180=) c.*143G>A (n.*143G>A) c.1481G>A (n.1481G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772301G>C | CA351076003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1335G>C (p.Lys445Asn) c.1347G>C (p.Lys449Asn) c.1341G>C (p.Lys447Asn) c.1344G>C (p.Lys448Asn) c.540G>C (p.Lys180Asn) c.*143G>C (n.*143G>C) c.1481G>C (n.1481G>C) | |
2 | g.233772301G= | CA1335897010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1335G= (p.Lys445=) c.1347G= (p.Lys449=) c.1341G= (p.Lys447=) c.1344G= (p.Lys448=) c.540G= (p.Lys180=) c.*143G= (n.*143G=) c.1481G= (n.1481G=) | |
2 | g.233772301G>T | CA351076002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1335G>T (p.Lys445Asn) c.1347G>T (p.Lys449Asn) c.1341G>T (p.Lys447Asn) c.1344G>T (p.Lys448Asn) c.540G>T (p.Lys180Asn) c.*143G>T (n.*143G>T) c.1481G>T (n.1481G>T) | |
2 | g.233772302G>A | CA351076005 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1336G>A (p.Asp446Asn) c.1348G>A (p.Asp450Asn) c.1342G>A (p.Asp448Asn) c.1345G>A (p.Asp449Asn) c.541G>A (p.Asp181Asn) c.*144G>A (n.*144G>A) c.1482G>A (n.1482G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772302G>C | CA351076009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1336G>C (p.Asp446His) c.1348G>C (p.Asp450His) c.1342G>C (p.Asp448His) c.1345G>C (p.Asp449His) c.541G>C (p.Asp181His) c.*144G>C (n.*144G>C) c.1482G>C (n.1482G>C) | |
2 | g.233772302G= | CA1335897011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1336G= (p.Asp446=) c.1348G= (p.Asp450=) c.1342G= (p.Asp448=) c.1345G= (p.Asp449=) c.541G= (p.Asp181=) c.*144G= (n.*144G=) c.1482G= (n.1482G=) | |
2 | g.233772302G>T | CA351076011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1336G>T (p.Asp446Tyr) c.1348G>T (p.Asp450Tyr) c.1342G>T (p.Asp448Tyr) c.1345G>T (p.Asp449Tyr) c.541G>T (p.Asp181Tyr) c.*144G>T (n.*144G>T) c.1482G>T (n.1482G>T) | |
2 | g.233772303A= | CA1335897012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1337A= (p.Asp446=) c.1349A= (p.Asp450=) c.1343A= (p.Asp448=) c.1346A= (p.Asp449=) c.542A= (p.Asp181=) c.*145A= (n.*145A=) c.1483A= (n.1483A=) | |
2 | g.233772303A>C | CA351076014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1337A>C (p.Asp446Ala) c.1349A>C (p.Asp450Ala) c.1343A>C (p.Asp448Ala) c.1346A>C (p.Asp449Ala) c.542A>C (p.Asp181Ala) c.*145A>C (n.*145A>C) c.1483A>C (n.1483A>C) | |
2 | g.233772303A>G | CA351076015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1337A>G (p.Asp446Gly) c.1349A>G (p.Asp450Gly) c.1343A>G (p.Asp448Gly) c.1346A>G (p.Asp449Gly) c.542A>G (p.Asp181Gly) c.*145A>G (n.*145A>G) c.1483A>G (n.1483A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772303A>T | CA351076016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1337A>T (p.Asp446Val) c.1349A>T (p.Asp450Val) c.1343A>T (p.Asp448Val) c.1346A>T (p.Asp449Val) c.542A>T (p.Asp181Val) c.*145A>T (n.*145A>T) c.1483A>T (n.1483A>T) | |
2 | g.233772304C>A | CA351076018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1338C>A (p.Asp446Glu) c.1350C>A (p.Asp450Glu) c.1344C>A (p.Asp448Glu) c.1347C>A (p.Asp449Glu) c.543C>A (p.Asp181Glu) c.*146C>A (n.*146C>A) c.1484C>A (n.1484C>A) | |
2 | g.233772304C= | CA1335897013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1338C= (p.Asp446=) c.1350C= (p.Asp450=) c.1344C= (p.Asp448=) c.1347C= (p.Asp449=) c.543C= (p.Asp181=) c.*146C= (n.*146C=) c.1484C= (n.1484C=) | |
2 | g.233772304C>G | CA351076020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1338C>G (p.Asp446Glu) c.1350C>G (p.Asp450Glu) c.1344C>G (p.Asp448Glu) c.1347C>G (p.Asp449Glu) c.543C>G (p.Asp181Glu) c.*146C>G (n.*146C>G) c.1484C>G (n.1484C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772304C>T | CA431862330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1338C>T (p.Asp446=) c.1350C>T (p.Asp450=) c.1344C>T (p.Asp448=) c.1347C>T (p.Asp449=) c.543C>T (p.Asp181=) c.*146C>T (n.*146C>T) c.1484C>T (n.1484C>T) | |
2 | g.233772305C>A | CA351076022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1339C>A (p.Arg447Ser) c.1351C>A (p.Arg451Ser) c.1345C>A (p.Arg449Ser) c.1348C>A (p.Arg450Ser) c.544C>A (p.Arg182Ser) c.*147C>A (n.*147C>A) c.1485C>A (n.1485C>A) | |
2 | g.233772305C= | CA1335897014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1339C= (p.Arg447=) c.1351C= (p.Arg451=) c.1345C= (p.Arg449=) c.1348C= (p.Arg450=) c.544C= (p.Arg182=) c.*147C= (n.*147C=) c.1485C= (n.1485C=) | |
2 | g.233772305C>G | CA351076024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1339C>G (p.Arg447Gly) c.1351C>G (p.Arg451Gly) c.1345C>G (p.Arg449Gly) c.1348C>G (p.Arg450Gly) c.544C>G (p.Arg182Gly) c.*147C>G (n.*147C>G) c.1485C>G (n.1485C>G) | |
2 | g.233772305C>T | CA2180096 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1339C>T (p.Arg447Cys) c.1351C>T (p.Arg451Cys) c.1345C>T (p.Arg449Cys) c.1348C>T (p.Arg450Cys) c.544C>T (p.Arg182Cys) c.*147C>T (n.*147C>T) c.1485C>T (n.1485C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772306G>A | CA2180097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1340G>A (p.Arg447His) c.1352G>A (p.Arg451His) c.1346G>A (p.Arg449His) c.1349G>A (p.Arg450His) c.545G>A (p.Arg182His) c.*148G>A (n.*148G>A) c.1486G>A (n.1486G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772306G>C | CA351076028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1340G>C (p.Arg447Pro) c.1352G>C (p.Arg451Pro) c.1346G>C (p.Arg449Pro) c.1349G>C (p.Arg450Pro) c.545G>C (p.Arg182Pro) c.*148G>C (n.*148G>C) c.1486G>C (n.1486G>C) | |
2 | g.233772306G= | CA1335897015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1340G= (p.Arg447=) c.1352G= (p.Arg451=) c.1346G= (p.Arg449=) c.1349G= (p.Arg450=) c.545G= (p.Arg182=) c.*148G= (n.*148G=) c.1486G= (n.1486G=) | |
2 | g.233772306G>T | CA67599434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1340G>T (p.Arg447Leu) c.1352G>T (p.Arg451Leu) c.1346G>T (p.Arg449Leu) c.1349G>T (p.Arg450Leu) c.545G>T (p.Arg182Leu) c.*148G>T (n.*148G>T) c.1486G>T (n.1486G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772307C>A | CA431862333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1341C>A (p.Arg447=) c.1353C>A (p.Arg451=) c.1347C>A (p.Arg449=) c.1350C>A (p.Arg450=) c.546C>A (p.Arg182=) c.*149C>A (n.*149C>A) c.1487C>A (n.1487C>A) | |
2 | g.233772307C= | CA1335897016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1341C= (p.Arg447=) c.1353C= (p.Arg451=) c.1347C= (p.Arg449=) c.1350C= (p.Arg450=) c.546C= (p.Arg182=) c.*149C= (n.*149C=) c.1487C= (n.1487C=) | |
2 | g.233772307C>G | CA431862331 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1341C>G (p.Arg447=) c.1353C>G (p.Arg451=) c.1347C>G (p.Arg449=) c.1350C>G (p.Arg450=) c.546C>G (p.Arg182=) c.*149C>G (n.*149C>G) c.1487C>G (n.1487C>G) | dbSNP gnomAD v4 |
2 | g.233772307C>T | CA431862332 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1341C>T (p.Arg447=) c.1353C>T (p.Arg451=) c.1347C>T (p.Arg449=) c.1350C>T (p.Arg450=) c.546C>T (p.Arg182=) c.*149C>T (n.*149C>T) c.1487C>T (n.1487C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772308C>A | CA351076029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1342C>A (p.Pro448Thr) c.1354C>A (p.Pro452Thr) c.1348C>A (p.Pro450Thr) c.1351C>A (p.Pro451Thr) c.547C>A (p.Pro183Thr) c.*150C>A (n.*150C>A) c.1488C>A (n.1488C>A) | |
2 | g.233772308C>G | CA351076031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1342C>G (p.Pro448Ala) c.1354C>G (p.Pro452Ala) c.1348C>G (p.Pro450Ala) c.1351C>G (p.Pro451Ala) c.547C>G (p.Pro183Ala) c.*150C>G (n.*150C>G) c.1488C>G (n.1488C>G) | |
2 | g.233772308C>T | CA351076033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1342C>T (p.Pro448Ser) c.1354C>T (p.Pro452Ser) c.1348C>T (p.Pro450Ser) c.1351C>T (p.Pro451Ser) c.547C>T (p.Pro183Ser) c.*150C>T (n.*150C>T) c.1488C>T (n.1488C>T) | |
2 | g.233772309C>A | CA351076036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>A (p.Pro448Gln) c.1355C>A (p.Pro452Gln) c.1349C>A (p.Pro450Gln) c.1352C>A (p.Pro451Gln) c.548C>A (p.Pro183Gln) c.*151C>A (n.*151C>A) c.1489C>A (n.1489C>A) | |
2 | g.233772309C= | CA1335897017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C= (p.Pro448=) c.1355C= (p.Pro452=) c.1349C= (p.Pro450=) c.1352C= (p.Pro451=) c.548C= (p.Pro183=) c.*151C= (n.*151C=) c.1489C= (n.1489C=) | |
2 | g.233772309C>G | CA351076037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>G (p.Pro448Arg) c.1355C>G (p.Pro452Arg) c.1349C>G (p.Pro450Arg) c.1352C>G (p.Pro451Arg) c.548C>G (p.Pro183Arg) c.*151C>G (n.*151C>G) c.1489C>G (n.1489C>G) | |
2 | g.233772309C>T | CA245929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>T (p.Pro448Leu) c.1355C>T (p.Pro452Leu) c.1349C>T (p.Pro450Leu) c.1352C>T (p.Pro451Leu) c.548C>T (p.Pro183Leu) c.*151C>T (n.*151C>T) c.1489C>T (n.1489C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772309_233772313delinsCGGTG | CA1335897018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343_1347delinsCGGTG (p.Pro448=) c.1355_1359delinsCGGTG (p.Pro452=) c.1349_1353delinsCGGTG (p.Pro450=) c.1352_1356delinsCGGTG (p.Pro451=) c.548_552delinsCGGTG (p.Pro183=) c.*151_*155delinsCGGTG (n.*151_*155delinsCGGTG) c.1489_1493delinsCGGTG (n.1489_1493delinsCGGTG) | |
2 | g.233772310_233772320dup | CA2754693593 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344_1354dup (p.Leu452ArgfsTer15) c.1356_1366dup (p.Leu456ArgfsTer15) c.1350_1360dup (p.Leu454ArgfsTer15) c.1353_1363dup (p.Leu455ArgfsTer15) c.549_559dup (p.Leu187ArgfsTer15) c.*152_*162dup (n.*152_*162dup) c.1490_1500dup (n.1490_1500dup) | |
2 | g.233772310G>A | CA2180100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>A (p.Pro448=) c.1356G>A (p.Pro452=) c.1350G>A (p.Pro450=) c.1353G>A (p.Pro451=) c.549G>A (p.Pro183=) c.*152G>A (n.*152G>A) c.1490G>A (n.1490G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772310G>C | CA2180099 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>C (p.Pro448=) c.1356G>C (p.Pro452=) c.1350G>C (p.Pro450=) c.1353G>C (p.Pro451=) c.549G>C (p.Pro183=) c.*152G>C (n.*152G>C) c.1490G>C (n.1490G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772310G= | CA1335897019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G= (p.Pro448=) c.1356G= (p.Pro452=) c.1350G= (p.Pro450=) c.1353G= (p.Pro451=) c.549G= (p.Pro183=) c.*152G= (n.*152G=) c.1490G= (n.1490G=) | |
2 | g.233772310G>T | CA431862334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>T (p.Pro448=) c.1356G>T (p.Pro452=) c.1350G>T (p.Pro450=) c.1353G>T (p.Pro451=) c.549G>T (p.Pro183=) c.*152G>T (n.*152G>T) c.1490G>T (n.1490G>T) | dbSNP |
2 | g.233772311_233772314del | CA2180098 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345_1348del (p.Val449SerfsTer13) c.1357_1360del (p.Val453SerfsTer13) c.1351_1354del (p.Val451SerfsTer13) c.1354_1357del (p.Val452SerfsTer13) c.550_553del (p.Val184SerfsTer13) c.*153_*156del (n.*153_*156del) c.1491_1494del (n.1491_1494del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772311G>A | CA351076039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>A (p.Val449Met) c.1357G>A (p.Val453Met) c.1351G>A (p.Val451Met) c.1354G>A (p.Val452Met) c.550G>A (p.Val184Met) c.*153G>A (n.*153G>A) c.1491G>A (n.1491G>A) | dbSNP |
2 | g.233772311G>C | CA351076041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>C (p.Val449Leu) c.1357G>C (p.Val453Leu) c.1351G>C (p.Val451Leu) c.1354G>C (p.Val452Leu) c.550G>C (p.Val184Leu) c.*153G>C (n.*153G>C) c.1491G>C (n.1491G>C) | |
2 | g.233772311G= | CA1335897020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G= (p.Val449=) c.1357G= (p.Val453=) c.1351G= (p.Val451=) c.1354G= (p.Val452=) c.550G= (p.Val184=) c.*153G= (n.*153G=) c.1491G= (n.1491G=) | |
2 | g.233772311G>T | CA173834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>T (p.Val449Leu) c.1357G>T (p.Val453Leu) c.1351G>T (p.Val451Leu) c.1354G>T (p.Val452Leu) c.550G>T (p.Val184Leu) c.*153G>T (n.*153G>T) c.1491G>T (n.1491G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772312T>A | CA351076043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>A (p.Val449Glu) c.1358T>A (p.Val453Glu) c.1352T>A (p.Val451Glu) c.1355T>A (p.Val452Glu) c.551T>A (p.Val184Glu) c.*154T>A (n.*154T>A) c.1492T>A (n.1492T>A) | |
2 | g.233772312T>C | CA351076045 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>C (p.Val449Ala) c.1358T>C (p.Val453Ala) c.1352T>C (p.Val451Ala) c.1355T>C (p.Val452Ala) c.551T>C (p.Val184Ala) c.*154T>C (n.*154T>C) c.1492T>C (n.1492T>C) | |
2 | g.233772312T>G | CA351076042 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>G (p.Val449Gly) c.1358T>G (p.Val453Gly) c.1352T>G (p.Val451Gly) c.1355T>G (p.Val452Gly) c.551T>G (p.Val184Gly) c.*154T>G (n.*154T>G) c.1492T>G (n.1492T>G) | |
2 | g.233772313G>A | CA431862337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>A (p.Val449=) c.1359G>A (p.Val453=) c.1353G>A (p.Val451=) c.1356G>A (p.Val452=) c.552G>A (p.Val184=) c.*155G>A (n.*155G>A) c.1493G>A (n.1493G>A) | dbSNP |
2 | g.233772313G>C | CA431862335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>C (p.Val449=) c.1359G>C (p.Val453=) c.1353G>C (p.Val451=) c.1356G>C (p.Val452=) c.552G>C (p.Val184=) c.*155G>C (n.*155G>C) c.1493G>C (n.1493G>C) | |
2 | g.233772313G= | CA1335897021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G= (p.Val449=) c.1359G= (p.Val453=) c.1353G= (p.Val451=) c.1356G= (p.Val452=) c.552G= (p.Val184=) c.*155G= (n.*155G=) c.1493G= (n.1493G=) | |
2 | g.233772313G>T | CA431862336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>T (p.Val449=) c.1359G>T (p.Val453=) c.1353G>T (p.Val451=) c.1356G>T (p.Val452=) c.552G>T (p.Val184=) c.*155G>T (n.*155G>T) c.1493G>T (n.1493G>T) | |
2 | g.233772314G>A | CA351076046 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>A (p.Glu450Lys) c.1360G>A (p.Glu454Lys) c.1354G>A (p.Glu452Lys) c.1357G>A (p.Glu453Lys) c.553G>A (p.Glu185Lys) c.*156G>A (n.*156G>A) c.1494G>A (n.1494G>A) | |
2 | g.233772314G>C | CA351076047 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>C (p.Glu450Gln) c.1360G>C (p.Glu454Gln) c.1354G>C (p.Glu452Gln) c.1357G>C (p.Glu453Gln) c.553G>C (p.Glu185Gln) c.*156G>C (n.*156G>C) c.1494G>C (n.1494G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772314G= | CA1335897022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G= (p.Glu450=) c.1360G= (p.Glu454=) c.1354G= (p.Glu452=) c.1357G= (p.Glu453=) c.553G= (p.Glu185=) c.*156G= (n.*156G=) c.1494G= (n.1494G=) | |
2 | g.233772314G>T | CA351076048 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>T (p.Glu450Ter) c.1360G>T (p.Glu454Ter) c.1354G>T (p.Glu452Ter) c.1357G>T (p.Glu453Ter) c.553G>T (p.Glu185Ter) c.*156G>T (n.*156G>T) c.1494G>T (n.1494G>T) | gnomAD v4 |
2 | g.233772315A>C | CA351076049 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>C (p.Glu450Ala) c.1361A>C (p.Glu454Ala) c.1355A>C (p.Glu452Ala) c.1358A>C (p.Glu453Ala) c.554A>C (p.Glu185Ala) c.*157A>C (n.*157A>C) c.1495A>C (n.1495A>C) | |
2 | g.233772315A>G | CA351076050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>G (p.Glu450Gly) c.1361A>G (p.Glu454Gly) c.1355A>G (p.Glu452Gly) c.1358A>G (p.Glu453Gly) c.554A>G (p.Glu185Gly) c.*157A>G (n.*157A>G) c.1495A>G (n.1495A>G) | |
2 | g.233772315A>T | CA351076052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>T (p.Glu450Val) c.1361A>T (p.Glu454Val) c.1355A>T (p.Glu452Val) c.1358A>T (p.Glu453Val) c.554A>T (p.Glu185Val) c.*157A>T (n.*157A>T) c.1495A>T (n.1495A>T) | gnomAD v4 |
2 | g.233772316G>A | CA431862338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>A (p.Glu450=) c.1362G>A (p.Glu454=) c.1356G>A (p.Glu452=) c.1359G>A (p.Glu453=) c.555G>A (p.Glu185=) c.*158G>A (n.*158G>A) c.1496G>A (n.1496G>A) | |
2 | g.233772316G>C | CA351076053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>C (p.Glu450Asp) c.1362G>C (p.Glu454Asp) c.1356G>C (p.Glu452Asp) c.1359G>C (p.Glu453Asp) c.555G>C (p.Glu185Asp) c.*158G>C (n.*158G>C) c.1496G>C (n.1496G>C) | |
2 | g.233772316G>T | CA351076054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>T (p.Glu450Asp) c.1362G>T (p.Glu454Asp) c.1356G>T (p.Glu452Asp) c.1359G>T (p.Glu453Asp) c.555G>T (p.Glu185Asp) c.*158G>T (n.*158G>T) c.1496G>T (n.1496G>T) | |
2 | g.233772317C>A | CA351076056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>A (p.Pro451Thr) c.1363C>A (p.Pro455Thr) c.1357C>A (p.Pro453Thr) c.1360C>A (p.Pro454Thr) c.556C>A (p.Pro186Thr) c.*159C>A (n.*159C>A) c.1497C>A (n.1497C>A) | |
2 | g.233772317C>G | CA351076059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>G (p.Pro451Ala) c.1363C>G (p.Pro455Ala) c.1357C>G (p.Pro453Ala) c.1360C>G (p.Pro454Ala) c.556C>G (p.Pro186Ala) c.*159C>G (n.*159C>G) c.1497C>G (n.1497C>G) | |
2 | g.233772317C>T | CA351076062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>T (p.Pro451Ser) c.1363C>T (p.Pro455Ser) c.1357C>T (p.Pro453Ser) c.1360C>T (p.Pro454Ser) c.556C>T (p.Pro186Ser) c.*159C>T (n.*159C>T) c.1497C>T (n.1497C>T) | |
2 | g.233772318C>A | CA351076064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>A (p.Pro451Gln) c.1364C>A (p.Pro455Gln) c.1358C>A (p.Pro453Gln) c.1361C>A (p.Pro454Gln) c.557C>A (p.Pro186Gln) c.*160C>A (n.*160C>A) c.1498C>A (n.1498C>A) | |
2 | g.233772318C= | CA1335897023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C= (p.Pro451=) c.1364C= (p.Pro455=) c.1358C= (p.Pro453=) c.1361C= (p.Pro454=) c.557C= (p.Pro186=) c.*160C= (n.*160C=) c.1498C= (n.1498C=) | |
2 | g.233772318C>G | CA351076069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>G (p.Pro451Arg) c.1364C>G (p.Pro455Arg) c.1358C>G (p.Pro453Arg) c.1361C>G (p.Pro454Arg) c.557C>G (p.Pro186Arg) c.*160C>G (n.*160C>G) c.1498C>G (n.1498C>G) | gnomAD v4 |
2 | g.233772318C>T | CA2180101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>T (p.Pro451Leu) c.1364C>T (p.Pro455Leu) c.1358C>T (p.Pro453Leu) c.1361C>T (p.Pro454Leu) c.557C>T (p.Pro186Leu) c.*160C>T (n.*160C>T) c.1498C>T (n.1498C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772319G>A | CA2180102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>A (p.Pro451=) c.1365G>A (p.Pro455=) c.1359G>A (p.Pro453=) c.1362G>A (p.Pro454=) c.558G>A (p.Pro186=) c.*161G>A (n.*161G>A) c.1499G>A (n.1499G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772319G>C | CA431862339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>C (p.Pro451=) c.1365G>C (p.Pro455=) c.1359G>C (p.Pro453=) c.1362G>C (p.Pro454=) c.558G>C (p.Pro186=) c.*161G>C (n.*161G>C) c.1499G>C (n.1499G>C) | |
2 | g.233772319G= | CA1335897025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G= (p.Pro451=) c.1365G= (p.Pro455=) c.1359G= (p.Pro453=) c.1362G= (p.Pro454=) c.558G= (p.Pro186=) c.*161G= (n.*161G=) c.1499G= (n.1499G=) | |
2 | g.233772319G>T | CA431862340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>T (p.Pro451=) c.1365G>T (p.Pro455=) c.1359G>T (p.Pro453=) c.1362G>T (p.Pro454=) c.558G>T (p.Pro186=) c.*161G>T (n.*161G>T) c.1499G>T (n.1499G>T) | dbSNP gnomAD v4 |
2 | g.233772319_233772320insGG | CA1335897024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353_1354insGG (p.Leu452GlyfsTer12) c.1365_1366insGG (p.Leu456GlyfsTer12) c.1359_1360insGG (p.Leu454GlyfsTer12) c.1362_1363insGG (p.Leu455GlyfsTer12) c.558_559insGG (p.Leu187GlyfsTer12) c.*161_*162insGG (n.*161_*162insGG) c.1499_1500insGG (n.1499_1500insGG) | dbSNP |
2 | g.233772320C>A | CA351076078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>A (p.Leu452Met) c.1366C>A (p.Leu456Met) c.1360C>A (p.Leu454Met) c.1363C>A (p.Leu455Met) c.559C>A (p.Leu187Met) c.*162C>A (n.*162C>A) c.1500C>A (n.1500C>A) | |
2 | g.233772320C>G | CA351076076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>G (p.Leu452Val) c.1366C>G (p.Leu456Val) c.1360C>G (p.Leu454Val) c.1363C>G (p.Leu455Val) c.559C>G (p.Leu187Val) c.*162C>G (n.*162C>G) c.1500C>G (n.1500C>G) | |
2 | g.233772320C>T | CA431862341 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>T (p.Leu452=) c.1366C>T (p.Leu456=) c.1360C>T (p.Leu454=) c.1363C>T (p.Leu455=) c.559C>T (p.Leu187=) c.*162C>T (n.*162C>T) c.1500C>T (n.1500C>T) | |
2 | g.233772320_233772321del | CA2663719078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354_1355del (p.Leu452GlyfsTer?) c.1366_1367del (p.Leu456GlyfsTer?) c.1360_1361del (p.Leu454GlyfsTer?) c.1363_1364del (p.Leu455GlyfsTer?) c.559_560del (p.Leu187GlyfsTer?) c.*162_*163del (n.*162_*163del) c.1500_1501del (n.1500_1501del) | gnomAD v4 |
2 | g.233772321T>A | CA351076081 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>A (p.Leu452Gln) c.1367T>A (p.Leu456Gln) c.1361T>A (p.Leu454Gln) c.1364T>A (p.Leu455Gln) c.560T>A (p.Leu187Gln) c.*163T>A (n.*163T>A) c.1501T>A (n.1501T>A) | |
2 | g.233772321T>C | CA351076080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>C (p.Leu452Pro) c.1367T>C (p.Leu456Pro) c.1361T>C (p.Leu454Pro) c.1364T>C (p.Leu455Pro) c.560T>C (p.Leu187Pro) c.*163T>C (n.*163T>C) c.1501T>C (n.1501T>C) | gnomAD v4 |
2 | g.233772321T>G | CA351076084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>G (p.Leu452Arg) c.1367T>G (p.Leu456Arg) c.1361T>G (p.Leu454Arg) c.1364T>G (p.Leu455Arg) c.560T>G (p.Leu187Arg) c.*163T>G (n.*163T>G) c.1501T>G (n.1501T>G) | dbSNP |
2 | g.233772321T= | CA1335897026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T= (p.Leu452=) c.1367T= (p.Leu456=) c.1361T= (p.Leu454=) c.1364T= (p.Leu455=) c.560T= (p.Leu187=) c.*163T= (n.*163T=) c.1501T= (n.1501T=) | |
2 | g.233772322G>A | CA431862347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1356G>A (p.Leu452=) c.1368G>A (p.Leu456=) c.1362G>A (p.Leu454=) c.1365G>A (p.Leu455=) c.561G>A (p.Leu187=) c.*164G>A (n.*164G>A) c.1502G>A (n.1502G>A) | |
2 | g.233772322G>C | CA431862350 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1356G>C (p.Leu452=) c.1368G>C (p.Leu456=) c.1362G>C (p.Leu454=) c.1365G>C (p.Leu455=) c.561G>C (p.Leu187=) c.*164G>C (n.*164G>C) c.1502G>C (n.1502G>C) | |
2 | g.233772322G= | CA1335897027 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1356G= (p.Leu452=) c.1368G= (p.Leu456=) c.1362G= (p.Leu454=) c.1365G= (p.Leu455=) c.561G= (p.Leu187=) c.*164G= (n.*164G=) c.1502G= (n.1502G=) | |
2 | g.233772322G>T | CA431862353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1356G>T (p.Leu452=) c.1368G>T (p.Leu456=) c.1362G>T (p.Leu454=) c.1365G>T (p.Leu455=) c.561G>T (p.Leu187=) c.*164G>T (n.*164G>T) c.1502G>T (n.1502G>T) | dbSNP |
2 | g.233772323G>A | CA351076085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1357G>A (p.Asp453Asn) c.1369G>A (p.Asp457Asn) c.1363G>A (p.Asp455Asn) c.1366G>A (p.Asp456Asn) c.562G>A (p.Asp188Asn) c.*165G>A (n.*165G>A) c.1503G>A (n.1503G>A) | |
2 | g.233772323G>C | CA351076090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1357G>C (p.Asp453His) c.1369G>C (p.Asp457His) c.1363G>C (p.Asp455His) c.1366G>C (p.Asp456His) c.562G>C (p.Asp188His) c.*165G>C (n.*165G>C) c.1503G>C (n.1503G>C) | |
2 | g.233772323G= | CA1335897028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1357G= (p.Asp453=) c.1369G= (p.Asp457=) c.1363G= (p.Asp455=) c.1366G= (p.Asp456=) c.562G= (p.Asp188=) c.*165G= (n.*165G=) c.1503G= (n.1503G=) | |
2 | g.233772323G>T | CA67599490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1357G>T (p.Asp453Tyr) c.1369G>T (p.Asp457Tyr) c.1363G>T (p.Asp455Tyr) c.1366G>T (p.Asp456Tyr) c.562G>T (p.Asp188Tyr) c.*165G>T (n.*165G>T) c.1503G>T (n.1503G>T) | dbSNP gnomAD v4 |
2 | g.233772324del | CA2663719087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1358del (p.Asp453AlafsTer10) c.1370del (p.Asp457AlafsTer10) c.1364del (p.Asp455AlafsTer10) c.1367del (p.Asp456AlafsTer10) c.563del (p.Asp188AlafsTer10) c.*166del (n.*166del) c.1504del (n.1504del) | gnomAD v4 |
2 | g.233772324A= | CA1335897029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1358A= (p.Asp453=) c.1370A= (p.Asp457=) c.1364A= (p.Asp455=) c.1367A= (p.Asp456=) c.563A= (p.Asp188=) c.*166A= (n.*166A=) c.1504A= (n.1504A=) | |
2 | g.233772324A>C | CA351076093 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1358A>C (p.Asp453Ala) c.1370A>C (p.Asp457Ala) c.1364A>C (p.Asp455Ala) c.1367A>C (p.Asp456Ala) c.563A>C (p.Asp188Ala) c.*166A>C (n.*166A>C) c.1504A>C (n.1504A>C) | |
2 | g.233772324A>G | CA351076095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1358A>G (p.Asp453Gly) c.1370A>G (p.Asp457Gly) c.1364A>G (p.Asp455Gly) c.1367A>G (p.Asp456Gly) c.563A>G (p.Asp188Gly) c.*166A>G (n.*166A>G) c.1504A>G (n.1504A>G) | |
2 | g.233772324A>T | CA351076094 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1358A>T (p.Asp453Val) c.1370A>T (p.Asp457Val) c.1364A>T (p.Asp455Val) c.1367A>T (p.Asp456Val) c.563A>T (p.Asp188Val) c.*166A>T (n.*166A>T) c.1504A>T (n.1504A>T) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772325C>A | CA351076096 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1359C>A (p.Asp453Glu) c.1371C>A (p.Asp457Glu) c.1365C>A (p.Asp455Glu) c.1368C>A (p.Asp456Glu) c.564C>A (p.Asp188Glu) c.*167C>A (n.*167C>A) c.1505C>A (n.1505C>A) | gnomAD v4 |
2 | g.233772325C= | CA1335897030 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1359C= (p.Asp453=) c.1371C= (p.Asp457=) c.1365C= (p.Asp455=) c.1368C= (p.Asp456=) c.564C= (p.Asp188=) c.*167C= (n.*167C=) c.1505C= (n.1505C=) | |
2 | g.233772325C>G | CA2180104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1359C>G (p.Asp453Glu) c.1371C>G (p.Asp457Glu) c.1365C>G (p.Asp455Glu) c.1368C>G (p.Asp456Glu) c.564C>G (p.Asp188Glu) c.*167C>G (n.*167C>G) c.1505C>G (n.1505C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772325C>T | CA2180103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1359C>T (p.Asp453=) c.1371C>T (p.Asp457=) c.1365C>T (p.Asp455=) c.1368C>T (p.Asp456=) c.564C>T (p.Asp188=) c.*167C>T (n.*167C>T) c.1505C>T (n.1505C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772325_233772326insGTGTT | CA2663719100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1359_1360insGTGTT (p.Leu454ValfsTer11) c.1371_1372insGTGTT (p.Leu458ValfsTer11) c.1365_1366insGTGTT (p.Leu456ValfsTer11) c.1368_1369insGTGTT (p.Leu457ValfsTer11) c.564_565insGTGTT (p.Leu189ValfsTer11) c.*167_*168insGTGTT (n.*167_*168insGTGTT) c.1505_1506insGTGTT (n.1505_1506insGTGTT) | gnomAD v4 |
2 | g.233772326C>A | CA2180105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1360C>A (p.Leu454Met) c.1372C>A (p.Leu458Met) c.1366C>A (p.Leu456Met) c.1369C>A (p.Leu457Met) c.565C>A (p.Leu189Met) c.*168C>A (n.*168C>A) c.1506C>A (n.1506C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772326C= | CA1335897031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1360C= (p.Leu454=) c.1372C= (p.Leu458=) c.1366C= (p.Leu456=) c.1369C= (p.Leu457=) c.565C= (p.Leu189=) c.*168C= (n.*168C=) c.1506C= (n.1506C=) | |
2 | g.233772326C>G | CA351076101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1360C>G (p.Leu454Val) c.1372C>G (p.Leu458Val) c.1366C>G (p.Leu456Val) c.1369C>G (p.Leu457Val) c.565C>G (p.Leu189Val) c.*168C>G (n.*168C>G) c.1506C>G (n.1506C>G) | |
2 | g.233772326C>T | CA431862381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1360C>T (p.Leu454=) c.1372C>T (p.Leu458=) c.1366C>T (p.Leu456=) c.1369C>T (p.Leu457=) c.565C>T (p.Leu189=) c.*168C>T (n.*168C>T) c.1506C>T (n.1506C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772327T>A | CA67599503 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1361T>A (p.Leu454Gln) c.1373T>A (p.Leu458Gln) c.1367T>A (p.Leu456Gln) c.1370T>A (p.Leu457Gln) c.566T>A (p.Leu189Gln) c.*169T>A (n.*169T>A) c.1507T>A (n.1507T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772327T>C | CA351076104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1361T>C (p.Leu454Pro) c.1373T>C (p.Leu458Pro) c.1367T>C (p.Leu456Pro) c.1370T>C (p.Leu457Pro) c.566T>C (p.Leu189Pro) c.*169T>C (n.*169T>C) c.1507T>C (n.1507T>C) | |
2 | g.233772327T>G | CA351076105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1361T>G (p.Leu454Arg) c.1373T>G (p.Leu458Arg) c.1367T>G (p.Leu456Arg) c.1370T>G (p.Leu457Arg) c.566T>G (p.Leu189Arg) c.*169T>G (n.*169T>G) c.1507T>G (n.1507T>G) | |
2 | g.233772327T= | CA1335897032 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1361T= (p.Leu454=) c.1373T= (p.Leu458=) c.1367T= (p.Leu456=) c.1370T= (p.Leu457=) c.566T= (p.Leu189=) c.*169T= (n.*169T=) c.1507T= (n.1507T=) | |
2 | g.233772328G>A | CA431862400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1362G>A (p.Leu454=) c.1374G>A (p.Leu458=) c.1368G>A (p.Leu456=) c.1371G>A (p.Leu457=) c.567G>A (p.Leu189=) c.*170G>A (n.*170G>A) c.1508G>A (n.1508G>A) | dbSNP gnomAD v4 |
2 | g.233772328G>C | CA431862402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1362G>C (p.Leu454=) c.1374G>C (p.Leu458=) c.1368G>C (p.Leu456=) c.1371G>C (p.Leu457=) c.567G>C (p.Leu189=) c.*170G>C (n.*170G>C) c.1508G>C (n.1508G>C) | |
2 | g.233772328G= | CA1335897033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1362G= (p.Leu454=) c.1374G= (p.Leu458=) c.1368G= (p.Leu456=) c.1371G= (p.Leu457=) c.567G= (p.Leu189=) c.*170G= (n.*170G=) c.1508G= (n.1508G=) | |
2 | g.233772328G>T | CA431862405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1362G>T (p.Leu454=) c.1374G>T (p.Leu458=) c.1368G>T (p.Leu456=) c.1371G>T (p.Leu457=) c.567G>T (p.Leu189=) c.*170G>T (n.*170G>T) c.1508G>T (n.1508G>T) | |
2 | g.233772329G>A | CA351076106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1363G>A (p.Ala455Thr) c.1375G>A (p.Ala459Thr) c.1369G>A (p.Ala457Thr) c.1372G>A (p.Ala458Thr) c.568G>A (p.Ala190Thr) c.*171G>A (n.*171G>A) c.1509G>A (n.1509G>A) | dbSNP gnomAD v2 |
2 | g.233772329G>C | CA351076107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1363G>C (p.Ala455Pro) c.1375G>C (p.Ala459Pro) c.1369G>C (p.Ala457Pro) c.1372G>C (p.Ala458Pro) c.568G>C (p.Ala190Pro) c.*171G>C (n.*171G>C) c.1509G>C (n.1509G>C) | |
2 | g.233772329G= | CA1335897034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1363G= (p.Ala455=) c.1375G= (p.Ala459=) c.1369G= (p.Ala457=) c.1372G= (p.Ala458=) c.568G= (p.Ala190=) c.*171G= (n.*171G=) c.1509G= (n.1509G=) | |
2 | g.233772329G>T | CA351076108 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1363G>T (p.Ala455Ser) c.1375G>T (p.Ala459Ser) c.1369G>T (p.Ala457Ser) c.1372G>T (p.Ala458Ser) c.568G>T (p.Ala190Ser) c.*171G>T (n.*171G>T) c.1509G>T (n.1509G>T) | gnomAD v4 |
2 | g.233772330C>A | CA351076113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1364C>A (p.Ala455Asp) c.1376C>A (p.Ala459Asp) c.1370C>A (p.Ala457Asp) c.1373C>A (p.Ala458Asp) c.569C>A (p.Ala190Asp) c.*172C>A (n.*172C>A) c.1510C>A (n.1510C>A) | |
2 | g.233772330C= | CA1335897035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1364C= (p.Ala455=) c.1376C= (p.Ala459=) c.1370C= (p.Ala457=) c.1373C= (p.Ala458=) c.569C= (p.Ala190=) c.*172C= (n.*172C=) c.1510C= (n.1510C=) | |
2 | g.233772330C>G | CA351076114 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1364C>G (p.Ala455Gly) c.1376C>G (p.Ala459Gly) c.1370C>G (p.Ala457Gly) c.1373C>G (p.Ala458Gly) c.569C>G (p.Ala190Gly) c.*172C>G (n.*172C>G) c.1510C>G (n.1510C>G) | |
2 | g.233772330C>T | CA2180106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1364C>T (p.Ala455Val) c.1376C>T (p.Ala459Val) c.1370C>T (p.Ala457Val) c.1373C>T (p.Ala458Val) c.569C>T (p.Ala190Val) c.*172C>T (n.*172C>T) c.1510C>T (n.1510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772331C>A | CA431862419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1365C>A (p.Ala455=) c.1377C>A (p.Ala459=) c.1371C>A (p.Ala457=) c.1374C>A (p.Ala458=) c.570C>A (p.Ala190=) c.*173C>A (n.*173C>A) c.1511C>A (n.1511C>A) | |
2 | g.233772331C= | CA1335897036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1365C= (p.Ala455=) c.1377C= (p.Ala459=) c.1371C= (p.Ala457=) c.1374C= (p.Ala458=) c.570C= (p.Ala190=) c.*173C= (n.*173C=) c.1511C= (n.1511C=) | |
2 | g.233772331C>G | CA431862423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1365C>G (p.Ala455=) c.1377C>G (p.Ala459=) c.1371C>G (p.Ala457=) c.1374C>G (p.Ala458=) c.570C>G (p.Ala190=) c.*173C>G (n.*173C>G) c.1511C>G (n.1511C>G) | gnomAD v4 |
2 | g.233772331C>T | CA2180107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1365C>T (p.Ala455=) c.1377C>T (p.Ala459=) c.1371C>T (p.Ala457=) c.1374C>T (p.Ala458=) c.570C>T (p.Ala190=) c.*173C>T (n.*173C>T) c.1511C>T (n.1511C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772332G>A | CA351076118 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1366G>A (p.Val456Met) c.1378G>A (p.Val460Met) c.1372G>A (p.Val458Met) c.1375G>A (p.Val459Met) c.571G>A (p.Val191Met) c.*174G>A (n.*174G>A) c.1512G>A (n.1512G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772332G>C | CA351076123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1366G>C (p.Val456Leu) c.1378G>C (p.Val460Leu) c.1372G>C (p.Val458Leu) c.1375G>C (p.Val459Leu) c.571G>C (p.Val191Leu) c.*174G>C (n.*174G>C) c.1512G>C (n.1512G>C) | |
2 | g.233772332G= | CA1335897037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1366G= (p.Val456=) c.1378G= (p.Val460=) c.1372G= (p.Val458=) c.1375G= (p.Val459=) c.571G= (p.Val191=) c.*174G= (n.*174G=) c.1512G= (n.1512G=) | |
2 | g.233772332G>T | CA351076122 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1366G>T (p.Val456Leu) c.1378G>T (p.Val460Leu) c.1372G>T (p.Val458Leu) c.1375G>T (p.Val459Leu) c.571G>T (p.Val191Leu) c.*174G>T (n.*174G>T) c.1512G>T (n.1512G>T) | dbSNP |
2 | g.233772333T>A | CA351076125 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1367T>A (p.Val456Glu) c.1379T>A (p.Val460Glu) c.1373T>A (p.Val458Glu) c.1376T>A (p.Val459Glu) c.572T>A (p.Val191Glu) c.*175T>A (n.*175T>A) c.1513T>A (n.1513T>A) | |
2 | g.233772333T>C | CA351076127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1367T>C (p.Val456Ala) c.1379T>C (p.Val460Ala) c.1373T>C (p.Val458Ala) c.1376T>C (p.Val459Ala) c.572T>C (p.Val191Ala) c.*175T>C (n.*175T>C) c.1513T>C (n.1513T>C) | gnomAD v4 |
2 | g.233772333T>G | CA351076129 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1367T>G (p.Val456Gly) c.1379T>G (p.Val460Gly) c.1373T>G (p.Val458Gly) c.1376T>G (p.Val459Gly) c.572T>G (p.Val191Gly) c.*175T>G (n.*175T>G) c.1513T>G (n.1513T>G) | |
2 | g.233772334G>A | CA431862439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1368G>A (p.Val456=) c.1380G>A (p.Val460=) c.1374G>A (p.Val458=) c.1377G>A (p.Val459=) c.573G>A (p.Val191=) c.*176G>A (n.*176G>A) c.1514G>A (n.1514G>A) | |
2 | g.233772334G>C | CA431862441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1368G>C (p.Val456=) c.1380G>C (p.Val460=) c.1374G>C (p.Val458=) c.1377G>C (p.Val459=) c.573G>C (p.Val191=) c.*176G>C (n.*176G>C) c.1514G>C (n.1514G>C) | |
2 | g.233772334G>T | CA431862444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1368G>T (p.Val456=) c.1380G>T (p.Val460=) c.1374G>T (p.Val458=) c.1377G>T (p.Val459=) c.573G>T (p.Val191=) c.*176G>T (n.*176G>T) c.1514G>T (n.1514G>T) | |
2 | g.233772335T>A | CA351076132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1369T>A (p.Phe457Ile) c.1381T>A (p.Phe461Ile) c.1375T>A (p.Phe459Ile) c.1378T>A (p.Phe460Ile) c.574T>A (p.Phe192Ile) c.*177T>A (n.*177T>A) c.1515T>A (n.1515T>A) | |
2 | g.233772335T>C | CA2180108 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1369T>C (p.Phe457Leu) c.1381T>C (p.Phe461Leu) c.1375T>C (p.Phe459Leu) c.1378T>C (p.Phe460Leu) c.574T>C (p.Phe192Leu) c.*177T>C (n.*177T>C) c.1515T>C (n.1515T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772335T>G | CA351076136 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1369T>G (p.Phe457Val) c.1381T>G (p.Phe461Val) c.1375T>G (p.Phe459Val) c.1378T>G (p.Phe460Val) c.574T>G (p.Phe192Val) c.*177T>G (n.*177T>G) c.1515T>G (n.1515T>G) | |
2 | g.233772335T= | CA1335897038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1369T= (p.Phe457=) c.1381T= (p.Phe461=) c.1375T= (p.Phe459=) c.1378T= (p.Phe460=) c.574T= (p.Phe192=) c.*177T= (n.*177T=) c.1515T= (n.1515T=) | |
2 | g.233772336T>A | CA351076139 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1370T>A (p.Phe457Tyr) c.1382T>A (p.Phe461Tyr) c.1376T>A (p.Phe459Tyr) c.1379T>A (p.Phe460Tyr) c.575T>A (p.Phe192Tyr) c.*178T>A (n.*178T>A) c.1516T>A (n.1516T>A) | |
2 | g.233772336T>C | CA351076141 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1370T>C (p.Phe457Ser) c.1382T>C (p.Phe461Ser) c.1376T>C (p.Phe459Ser) c.1379T>C (p.Phe460Ser) c.575T>C (p.Phe192Ser) c.*178T>C (n.*178T>C) c.1516T>C (n.1516T>C) | |
2 | g.233772336T>G | CA351076143 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1370T>G (p.Phe457Cys) c.1382T>G (p.Phe461Cys) c.1376T>G (p.Phe459Cys) c.1379T>G (p.Phe460Cys) c.575T>G (p.Phe192Cys) c.*178T>G (n.*178T>G) c.1516T>G (n.1516T>G) | |
2 | g.233772337C>A | CA351076145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1371C>A (p.Phe457Leu) c.1383C>A (p.Phe461Leu) c.1377C>A (p.Phe459Leu) c.1380C>A (p.Phe460Leu) c.576C>A (p.Phe192Leu) c.*179C>A (n.*179C>A) c.1517C>A (n.1517C>A) | |
2 | g.233772337C>G | CA351076144 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1371C>G (p.Phe457Leu) c.1383C>G (p.Phe461Leu) c.1377C>G (p.Phe459Leu) c.1380C>G (p.Phe460Leu) c.576C>G (p.Phe192Leu) c.*179C>G (n.*179C>G) c.1517C>G (n.1517C>G) | |
2 | g.233772337C>T | CA431862463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1371C>T (p.Phe457=) c.1383C>T (p.Phe461=) c.1377C>T (p.Phe459=) c.1380C>T (p.Phe460=) c.576C>T (p.Phe192=) c.*179C>T (n.*179C>T) c.1517C>T (n.1517C>T) | gnomAD v4 |
2 | g.233772338T>A | CA351076148 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1372T>A (p.Trp458Arg) c.1384T>A (p.Trp462Arg) c.1378T>A (p.Trp460Arg) c.1381T>A (p.Trp461Arg) c.577T>A (p.Trp193Arg) c.*180T>A (n.*180T>A) c.1518T>A (n.1518T>A) | |
2 | g.233772338T>C | CA351076153 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1372T>C (p.Trp458Arg) c.1384T>C (p.Trp462Arg) c.1378T>C (p.Trp460Arg) c.1381T>C (p.Trp461Arg) c.577T>C (p.Trp193Arg) c.*180T>C (n.*180T>C) c.1518T>C (n.1518T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772338T>G | CA351076154 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1372T>G (p.Trp458Gly) c.1384T>G (p.Trp462Gly) c.1378T>G (p.Trp460Gly) c.1381T>G (p.Trp461Gly) c.577T>G (p.Trp193Gly) c.*180T>G (n.*180T>G) c.1518T>G (n.1518T>G) | |
2 | g.233772338T= | CA1335897039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1372T= (p.Trp458=) c.1384T= (p.Trp462=) c.1378T= (p.Trp460=) c.1381T= (p.Trp461=) c.577T= (p.Trp193=) c.*180T= (n.*180T=) c.1518T= (n.1518T=) | |
2 | g.233772339G>A | CA351076157 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1373G>A (p.Trp458Ter) c.1385G>A (p.Trp462Ter) c.1379G>A (p.Trp460Ter) c.1382G>A (p.Trp461Ter) c.578G>A (p.Trp193Ter) c.*181G>A (n.*181G>A) c.1519G>A (n.1519G>A) | ClinVar gnomAD v4 |
2 | g.233772339G>C | CA351076159 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1373G>C (p.Trp458Ser) c.1385G>C (p.Trp462Ser) c.1379G>C (p.Trp460Ser) c.1382G>C (p.Trp461Ser) c.578G>C (p.Trp193Ser) c.*181G>C (n.*181G>C) c.1519G>C (n.1519G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772339G= | CA1335897040 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1373G= (p.Trp458=) c.1385G= (p.Trp462=) c.1379G= (p.Trp460=) c.1382G= (p.Trp461=) c.578G= (p.Trp193=) c.*181G= (n.*181G=) c.1519G= (n.1519G=) | |
2 | g.233772339G>T | CA351076162 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1373G>T (p.Trp458Leu) c.1385G>T (p.Trp462Leu) c.1379G>T (p.Trp460Leu) c.1382G>T (p.Trp461Leu) c.578G>T (p.Trp193Leu) c.*181G>T (n.*181G>T) c.1519G>T (n.1519G>T) | |
2 | g.233772340G>A | CA351076167 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1374G>A (p.Trp458Ter) c.1386G>A (p.Trp462Ter) c.1380G>A (p.Trp460Ter) c.1383G>A (p.Trp461Ter) c.579G>A (p.Trp193Ter) c.*182G>A (n.*182G>A) c.1520G>A (n.1520G>A) | |
2 | g.233772340G>C | CA351076168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1374G>C (p.Trp458Cys) c.1386G>C (p.Trp462Cys) c.1380G>C (p.Trp460Cys) c.1383G>C (p.Trp461Cys) c.579G>C (p.Trp193Cys) c.*182G>C (n.*182G>C) c.1520G>C (n.1520G>C) | |
2 | g.233772340G>T | CA351076170 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1374G>T (p.Trp458Cys) c.1386G>T (p.Trp462Cys) c.1380G>T (p.Trp460Cys) c.1383G>T (p.Trp461Cys) c.579G>T (p.Trp193Cys) c.*182G>T (n.*182G>T) c.1520G>T (n.1520G>T) | |
2 | g.233772341G>A | CA2180109 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1375G>A (p.Val459Met) c.1387G>A (p.Val463Met) c.1381G>A (p.Val461Met) c.1384G>A (p.Val462Met) c.580G>A (p.Val194Met) c.*183G>A (n.*183G>A) c.1521G>A (n.1521G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772341G>C | CA351076174 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1375G>C (p.Val459Leu) c.1387G>C (p.Val463Leu) c.1381G>C (p.Val461Leu) c.1384G>C (p.Val462Leu) c.580G>C (p.Val194Leu) c.*183G>C (n.*183G>C) c.1521G>C (n.1521G>C) | |
2 | g.233772341G= | CA1335897041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1375G= (p.Val459=) c.1387G= (p.Val463=) c.1381G= (p.Val461=) c.1384G= (p.Val462=) c.580G= (p.Val194=) c.*183G= (n.*183G=) c.1521G= (n.1521G=) | |
2 | g.233772341G>T | CA351076177 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1375G>T (p.Val459Leu) c.1387G>T (p.Val463Leu) c.1381G>T (p.Val461Leu) c.1384G>T (p.Val462Leu) c.580G>T (p.Val194Leu) c.*183G>T (n.*183G>T) c.1521G>T (n.1521G>T) | |
2 | g.233772342T>A | CA351076185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1376T>A (p.Val459Glu) c.1388T>A (p.Val463Glu) c.1382T>A (p.Val461Glu) c.1385T>A (p.Val462Glu) c.581T>A (p.Val194Glu) c.1522T>A (n.1522T>A) | |
2 | g.233772342T>C | CA351076181 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1376T>C (p.Val459Ala) c.1388T>C (p.Val463Ala) c.1382T>C (p.Val461Ala) c.1385T>C (p.Val462Ala) c.581T>C (p.Val194Ala) c.1522T>C (n.1522T>C) | |
2 | g.233772342T>G | CA351076179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1376T>G (p.Val459Gly) c.1388T>G (p.Val463Gly) c.1382T>G (p.Val461Gly) c.1385T>G (p.Val462Gly) c.581T>G (p.Val194Gly) c.1522T>G (n.1522T>G) | |
2 | g.233772343G>A | CA431862505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1377G>A (p.Val459=) c.1389G>A (p.Val463=) c.1383G>A (p.Val461=) c.1386G>A (p.Val462=) c.582G>A (p.Val194=) c.1523G>A (n.1523G>A) | dbSNP |
2 | g.233772343G>C | CA431862507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1377G>C (p.Val459=) c.1389G>C (p.Val463=) c.1383G>C (p.Val461=) c.1386G>C (p.Val462=) c.582G>C (p.Val194=) c.1523G>C (n.1523G>C) | |
2 | g.233772343G= | CA1335897042 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1377G= (p.Val459=) c.1389G= (p.Val463=) c.1383G= (p.Val461=) c.1386G= (p.Val462=) c.582G= (p.Val194=) c.1523G= (n.1523G=) | |
2 | g.233772343G>T | CA431862510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1377G>T (p.Val459=) c.1389G>T (p.Val463=) c.1383G>T (p.Val461=) c.1386G>T (p.Val462=) c.582G>T (p.Val194=) c.1523G>T (n.1523G>T) | |
2 | g.233772344G>A | CA2180110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1378G>A (p.Glu460Lys) c.1390G>A (p.Glu464Lys) c.1384G>A (p.Glu462Lys) c.1387G>A (p.Glu463Lys) c.583G>A (p.Glu195Lys) c.1524G>A (n.1524G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772344G>C | CA351076188 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1378G>C (p.Glu460Gln) c.1390G>C (p.Glu464Gln) c.1384G>C (p.Glu462Gln) c.1387G>C (p.Glu463Gln) c.583G>C (p.Glu195Gln) c.1524G>C (n.1524G>C) | |
2 | g.233772344G= | CA1335897043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1378G= (p.Glu460=) c.1390G= (p.Glu464=) c.1384G= (p.Glu462=) c.1387G= (p.Glu463=) c.583G= (p.Glu195=) c.1524G= (n.1524G=) | |
2 | g.233772344G>T | CA351076189 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1378G>T (p.Glu460Ter) c.1390G>T (p.Glu464Ter) c.1384G>T (p.Glu462Ter) c.1387G>T (p.Glu463Ter) c.583G>T (p.Glu195Ter) c.1524G>T (n.1524G>T) | |
2 | g.233772345A= | CA1335897044 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1379A= (p.Glu460=) c.1391A= (p.Glu464=) c.1385A= (p.Glu462=) c.1388A= (p.Glu463=) c.584A= (p.Glu195=) c.1525A= (n.1525A=) | |
2 | g.233772345A>C | CA67599534 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1379A>C (p.Glu460Ala) c.1391A>C (p.Glu464Ala) c.1385A>C (p.Glu462Ala) c.1388A>C (p.Glu463Ala) c.584A>C (p.Glu195Ala) c.1525A>C (n.1525A>C) | dbSNP |
2 | g.233772345A>G | CA2180111 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1379A>G (p.Glu460Gly) c.1391A>G (p.Glu464Gly) c.1385A>G (p.Glu462Gly) c.1388A>G (p.Glu463Gly) c.584A>G (p.Glu195Gly) c.1525A>G (n.1525A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772345A>T | CA2180112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1379A>T (p.Glu460Val) c.1391A>T (p.Glu464Val) c.1385A>T (p.Glu462Val) c.1388A>T (p.Glu463Val) c.584A>T (p.Glu195Val) c.1525A>T (n.1525A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772346G>A | CA431862537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1380G>A (p.Glu460=) c.1392G>A (p.Glu464=) c.1386G>A (p.Glu462=) c.1389G>A (p.Glu463=) c.585G>A (p.Glu195=) c.1526G>A (n.1526G>A) | dbSNP gnomAD v4 |
2 | g.233772346G>C | CA2180113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1380G>C (p.Glu460Asp) c.1392G>C (p.Glu464Asp) c.1386G>C (p.Glu462Asp) c.1389G>C (p.Glu463Asp) c.585G>C (p.Glu195Asp) c.1526G>C (n.1526G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772346G= | CA1335897046 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1380G= (p.Glu460=) c.1392G= (p.Glu464=) c.1386G= (p.Glu462=) c.1389G= (p.Glu463=) c.585G= (p.Glu195=) c.1526G= (n.1526G=) | |
2 | g.233772346G>T | CA351076195 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1380G>T (p.Glu460Asp) c.1392G>T (p.Glu464Asp) c.1386G>T (p.Glu462Asp) c.1389G>T (p.Glu463Asp) c.585G>T (p.Glu195Asp) c.1526G>T (n.1526G>T) | |
2 | g.233772346_233772347delinsGT | CA1335897045 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1380_1381delinsGT (p.Glu460=) c.1392_1393delinsGT (p.Glu464=) c.1386_1387delinsGT (p.Glu462=) c.1389_1390delinsGT (p.Glu463=) c.585_586delinsGT (p.Glu195=) c.1526_1527delinsGT (n.1526_1527delinsGT) | |
2 | g.233772347T>A | CA351076196 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1381T>A (p.Phe461Ile) c.1393T>A (p.Phe465Ile) c.1387T>A (p.Phe463Ile) c.1390T>A (p.Phe464Ile) c.586T>A (p.Phe196Ile) c.1527T>A (n.1527T>A) | dbSNP gnomAD v4 |
2 | g.233772347T>C | CA351076197 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1381T>C (p.Phe461Leu) c.1393T>C (p.Phe465Leu) c.1387T>C (p.Phe463Leu) c.1390T>C (p.Phe464Leu) c.586T>C (p.Phe196Leu) c.1527T>C (n.1527T>C) | |
2 | g.233772347T>G | CA351076200 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1381T>G (p.Phe461Val) c.1393T>G (p.Phe465Val) c.1387T>G (p.Phe463Val) c.1390T>G (p.Phe464Val) c.586T>G (p.Phe196Val) c.1527T>G (n.1527T>G) | |
2 | g.233772347T= | CA1335897047 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1381T= (p.Phe461=) c.1393T= (p.Phe465=) c.1387T= (p.Phe463=) c.1390T= (p.Phe464=) c.586T= (p.Phe196=) c.1527T= (n.1527T=) | |
2 | g.233772349del | CA2180114 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1383del (p.Phe461LeufsTer2) c.1395del (p.Phe465LeufsTer2) c.1389del (p.Phe463LeufsTer2) c.1392del (p.Phe464LeufsTer2) c.588del (p.Phe196LeufsTer2) c.1529del (n.1529del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772348T>A | CA351076210 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1382T>A (p.Phe461Tyr) c.1394T>A (p.Phe465Tyr) c.1388T>A (p.Phe463Tyr) c.1391T>A (p.Phe464Tyr) c.587T>A (p.Phe196Tyr) c.1528T>A (n.1528T>A) | dbSNP |
2 | g.233772348T>C | CA351076206 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1382T>C (p.Phe461Ser) c.1394T>C (p.Phe465Ser) c.1388T>C (p.Phe463Ser) c.1391T>C (p.Phe464Ser) c.587T>C (p.Phe196Ser) c.1528T>C (n.1528T>C) | gnomAD v4 |
2 | g.233772348T>G | CA351076203 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1382T>G (p.Phe461Cys) c.1394T>G (p.Phe465Cys) c.1388T>G (p.Phe463Cys) c.1391T>G (p.Phe464Cys) c.587T>G (p.Phe196Cys) c.1528T>G (n.1528T>G) | |
2 | g.233772348T= | CA1335897048 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1382T= (p.Phe461=) c.1394T= (p.Phe465=) c.1388T= (p.Phe463=) c.1391T= (p.Phe464=) c.587T= (p.Phe196=) c.1528T= (n.1528T=) | |
2 | g.233772349T>A | CA351076216 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1383T>A (p.Phe461Leu) c.1395T>A (p.Phe465Leu) c.1389T>A (p.Phe463Leu) c.1392T>A (p.Phe464Leu) c.588T>A (p.Phe196Leu) c.1529T>A (n.1529T>A) | |
2 | g.233772349T>C | CA2180115 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1383T>C (p.Phe461=) c.1395T>C (p.Phe465=) c.1389T>C (p.Phe463=) c.1392T>C (p.Phe464=) c.588T>C (p.Phe196=) c.1529T>C (n.1529T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772349T>G | CA351076217 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1383T>G (p.Phe461Leu) c.1395T>G (p.Phe465Leu) c.1389T>G (p.Phe463Leu) c.1392T>G (p.Phe464Leu) c.588T>G (p.Phe196Leu) c.1529T>G (n.1529T>G) | |
2 | g.233772349T= | CA1335897049 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1383T= (p.Phe461=) c.1395T= (p.Phe465=) c.1389T= (p.Phe463=) c.1392T= (p.Phe464=) c.588T= (p.Phe196=) c.1529T= (n.1529T=) | |
2 | g.233772350G>A | CA351076218 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1384G>A (p.Val462Met) c.1396G>A (p.Val466Met) c.1390G>A (p.Val464Met) c.1393G>A (p.Val465Met) c.589G>A (p.Val197Met) c.1530G>A (n.1530G>A) | |
2 | g.233772350G>C | CA351076219 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1384G>C (p.Val462Leu) c.1396G>C (p.Val466Leu) c.1390G>C (p.Val464Leu) c.1393G>C (p.Val465Leu) c.589G>C (p.Val197Leu) c.1530G>C (n.1530G>C) | |
2 | g.233772350G>T | CA351076221 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1384G>T (p.Val462Leu) c.1396G>T (p.Val466Leu) c.1390G>T (p.Val464Leu) c.1393G>T (p.Val465Leu) c.589G>T (p.Val197Leu) c.1530G>T (n.1530G>T) | |
2 | g.233772351T>A | CA351076233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1385T>A (p.Val462Glu) c.1397T>A (p.Val466Glu) c.1391T>A (p.Val464Glu) c.1394T>A (p.Val465Glu) c.590T>A (p.Val197Glu) c.1531T>A (n.1531T>A) | |
2 | g.233772351T>C | CA351076236 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1385T>C (p.Val462Ala) c.1397T>C (p.Val466Ala) c.1391T>C (p.Val464Ala) c.1394T>C (p.Val465Ala) c.590T>C (p.Val197Ala) c.1531T>C (n.1531T>C) | gnomAD v4 |
2 | g.233772351T>G | CA351076242 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1385T>G (p.Val462Gly) c.1397T>G (p.Val466Gly) c.1391T>G (p.Val464Gly) c.1394T>G (p.Val465Gly) c.590T>G (p.Val197Gly) c.1531T>G (n.1531T>G) | |
2 | g.233772352G>A | CA431862578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1386G>A (p.Val462=) c.1398G>A (p.Val466=) c.1392G>A (p.Val464=) c.1395G>A (p.Val465=) c.591G>A (p.Val197=) c.1532G>A (n.1532G>A) | |
2 | g.233772352G>C | CA431862579 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1386G>C (p.Val462=) c.1398G>C (p.Val466=) c.1392G>C (p.Val464=) c.1395G>C (p.Val465=) c.591G>C (p.Val197=) c.1532G>C (n.1532G>C) | |
2 | g.233772352G>T | CA431862582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1386G>T (p.Val462=) c.1398G>T (p.Val466=) c.1392G>T (p.Val464=) c.1395G>T (p.Val465=) c.591G>T (p.Val197=) c.1532G>T (n.1532G>T) | |
2 | g.233772353A>C | CA351076244 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1387A>C (p.Met463Leu) c.1399A>C (p.Met467Leu) c.1393A>C (p.Met465Leu) c.1396A>C (p.Met466Leu) c.592A>C (p.Met198Leu) c.1533A>C (n.1533A>C) | |
2 | g.233772353A>G | CA351076246 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1387A>G (p.Met463Val) c.1399A>G (p.Met467Val) c.1393A>G (p.Met465Val) c.1396A>G (p.Met466Val) c.592A>G (p.Met198Val) c.1533A>G (n.1533A>G) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772353A>T | CA351076247 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1387A>T (p.Met463Leu) c.1399A>T (p.Met467Leu) c.1393A>T (p.Met465Leu) c.1396A>T (p.Met466Leu) c.592A>T (p.Met198Leu) c.1533A>T (n.1533A>T) | |
2 | g.233772354T>A | CA351076249 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1388T>A (p.Met463Lys) c.1400T>A (p.Met467Lys) c.1394T>A (p.Met465Lys) c.1397T>A (p.Met466Lys) c.593T>A (p.Met198Lys) c.1534T>A (n.1534T>A) | gnomAD v4 |
2 | g.233772354T>C | CA351076250 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1388T>C (p.Met463Thr) c.1400T>C (p.Met467Thr) c.1394T>C (p.Met465Thr) c.1397T>C (p.Met466Thr) c.593T>C (p.Met198Thr) c.1534T>C (n.1534T>C) | gnomAD v4 |
2 | g.233772354T>G | CA351076252 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1388T>G (p.Met463Arg) c.1400T>G (p.Met467Arg) c.1394T>G (p.Met465Arg) c.1397T>G (p.Met466Arg) c.593T>G (p.Met198Arg) c.1534T>G (n.1534T>G) | |
2 | g.233772355G>A | CA2180116 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1389G>A (p.Met463Ile) c.1401G>A (p.Met467Ile) c.1395G>A (p.Met465Ile) c.1398G>A (p.Met466Ile) c.594G>A (p.Met198Ile) c.1535G>A (n.1535G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772355G>C | CA351076253 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1389G>C (p.Met463Ile) c.1401G>C (p.Met467Ile) c.1395G>C (p.Met465Ile) c.1398G>C (p.Met466Ile) c.594G>C (p.Met198Ile) c.1535G>C (n.1535G>C) | |
2 | g.233772355G= | CA1335897050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1389G= (p.Met463=) c.1401G= (p.Met467=) c.1395G= (p.Met465=) c.1398G= (p.Met466=) c.594G= (p.Met198=) c.1535G= (n.1535G=) | |
2 | g.233772355G>T | CA351076256 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1389G>T (p.Met463Ile) c.1401G>T (p.Met467Ile) c.1395G>T (p.Met465Ile) c.1398G>T (p.Met466Ile) c.594G>T (p.Met198Ile) c.1535G>T (n.1535G>T) | |
2 | g.233772356A= | CA1335897051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1390A= (p.Arg464=) c.1402A= (p.Arg468=) c.1396A= (p.Arg466=) c.1399A= (p.Arg467=) c.595A= (p.Arg199=) c.1536A= (n.1536A=) | |
2 | g.233772356A>C | CA431862604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1390A>C (p.Arg464=) c.1402A>C (p.Arg468=) c.1396A>C (p.Arg466=) c.1399A>C (p.Arg467=) c.595A>C (p.Arg199=) c.1536A>C (n.1536A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772356A>G | CA351076259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1390A>G (p.Arg464Gly) c.1402A>G (p.Arg468Gly) c.1396A>G (p.Arg466Gly) c.1399A>G (p.Arg467Gly) c.595A>G (p.Arg199Gly) c.1536A>G (n.1536A>G) | gnomAD v4 |
2 | g.233772356A>T | CA351076261 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1390A>T (p.Arg464Trp) c.1402A>T (p.Arg468Trp) c.1396A>T (p.Arg466Trp) c.1399A>T (p.Arg467Trp) c.595A>T (p.Arg199Trp) c.1536A>T (n.1536A>T) | |
2 | g.233772357G>A | CA2180117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1391G>A (p.Arg464Lys) c.1403G>A (p.Arg468Lys) c.1397G>A (p.Arg466Lys) c.1400G>A (p.Arg467Lys) c.596G>A (p.Arg199Lys) c.1537G>A (n.1537G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772357G>C | CA351076266 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1391G>C (p.Arg464Thr) c.1403G>C (p.Arg468Thr) c.1397G>C (p.Arg466Thr) c.1400G>C (p.Arg467Thr) c.596G>C (p.Arg199Thr) c.1537G>C (n.1537G>C) | |
2 | g.233772357G= | CA1335897052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1391G= (p.Arg464=) c.1403G= (p.Arg468=) c.1397G= (p.Arg466=) c.1400G= (p.Arg467=) c.596G= (p.Arg199=) c.1537G= (n.1537G=) | |
2 | g.233772357G>T | CA351076267 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1391G>T (p.Arg464Met) c.1403G>T (p.Arg468Met) c.1397G>T (p.Arg466Met) c.1400G>T (p.Arg467Met) c.596G>T (p.Arg199Met) c.1537G>T (n.1537G>T) | |
2 | g.233772358G>A | CA431862622 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1392G>A (p.Arg464=) c.1404G>A (p.Arg468=) c.1398G>A (p.Arg466=) c.1401G>A (p.Arg467=) c.597G>A (p.Arg199=) c.1538G>A (n.1538G>A) | |
2 | g.233772358G>C | CA351076269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1392G>C (p.Arg464Ser) c.1404G>C (p.Arg468Ser) c.1398G>C (p.Arg466Ser) c.1401G>C (p.Arg467Ser) c.597G>C (p.Arg199Ser) c.1538G>C (n.1538G>C) | |
2 | g.233772358G>T | CA351076271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1392G>T (p.Arg464Ser) c.1404G>T (p.Arg468Ser) c.1398G>T (p.Arg466Ser) c.1401G>T (p.Arg467Ser) c.597G>T (p.Arg199Ser) c.1538G>T (n.1538G>T) | |
2 | g.233772359C>A | CA351076273 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1393C>A (p.His465Asn) c.1405C>A (p.His469Asn) c.1399C>A (p.His467Asn) c.1402C>A (p.His468Asn) c.598C>A (p.His200Asn) c.1539C>A (n.1539C>A) | |
2 | g.233772359C= | CA1335897053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1393C= (p.His465=) c.1405C= (p.His469=) c.1399C= (p.His467=) c.1402C= (p.His468=) c.598C= (p.His200=) c.1539C= (n.1539C=) | |
2 | g.233772359C>G | CA351076274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1393C>G (p.His465Asp) c.1405C>G (p.His469Asp) c.1399C>G (p.His467Asp) c.1402C>G (p.His468Asp) c.598C>G (p.His200Asp) c.1539C>G (n.1539C>G) | dbSNP |
2 | g.233772359C>T | CA351076275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1393C>T (p.His465Tyr) c.1405C>T (p.His469Tyr) c.1399C>T (p.His467Tyr) c.1402C>T (p.His468Tyr) c.598C>T (p.His200Tyr) c.1539C>T (n.1539C>T) | dbSNP gnomAD v4 |
2 | g.233772360A>C | CA351076281 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1394A>C (p.His465Pro) c.1406A>C (p.His469Pro) c.1400A>C (p.His467Pro) c.1403A>C (p.His468Pro) c.599A>C (p.His200Pro) c.1540A>C (n.1540A>C) | |
2 | g.233772360A>G | CA351076279 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1394A>G (p.His465Arg) c.1406A>G (p.His469Arg) c.1400A>G (p.His467Arg) c.1403A>G (p.His468Arg) c.599A>G (p.His200Arg) c.1540A>G (n.1540A>G) | |
2 | g.233772360A>T | CA351076277 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1394A>T (p.His465Leu) c.1406A>T (p.His469Leu) c.1400A>T (p.His467Leu) c.1403A>T (p.His468Leu) c.599A>T (p.His200Leu) c.1540A>T (n.1540A>T) | |
2 | g.233772361C>A | CA351076283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1395C>A (p.His465Gln) c.1407C>A (p.His469Gln) c.1401C>A (p.His467Gln) c.1404C>A (p.His468Gln) c.600C>A (p.His200Gln) c.1541C>A (n.1541C>A) | |
2 | g.233772361C>G | CA351076286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1395C>G (p.His465Gln) c.1407C>G (p.His469Gln) c.1401C>G (p.His467Gln) c.1404C>G (p.His468Gln) c.600C>G (p.His200Gln) c.1541C>G (n.1541C>G) | |
2 | g.233772361C>T | CA431862644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1395C>T (p.His465=) c.1407C>T (p.His469=) c.1401C>T (p.His467=) c.1404C>T (p.His468=) c.600C>T (p.His200=) c.1541C>T (n.1541C>T) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772362A= | CA1335897054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1396A= (p.Lys466=) c.1408A= (p.Lys470=) c.1402A= (p.Lys468=) c.1405A= (p.Lys469=) c.601A= (p.Lys201=) c.1542A= (n.1542A=) | |
2 | g.233772362A>C | CA351076292 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1396A>C (p.Lys466Gln) c.1408A>C (p.Lys470Gln) c.1402A>C (p.Lys468Gln) c.1405A>C (p.Lys469Gln) c.601A>C (p.Lys201Gln) c.1542A>C (n.1542A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772362A>G | CA351076294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1396A>G (p.Lys466Glu) c.1408A>G (p.Lys470Glu) c.1402A>G (p.Lys468Glu) c.1405A>G (p.Lys469Glu) c.601A>G (p.Lys201Glu) c.1542A>G (n.1542A>G) | |
2 | g.233772362A>T | CA351076296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1396A>T (p.Lys466Ter) c.1408A>T (p.Lys470Ter) c.1402A>T (p.Lys468Ter) c.1405A>T (p.Lys469Ter) c.601A>T (p.Lys201Ter) c.1542A>T (n.1542A>T) | |
2 | g.233772363A>C | CA351076298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1397A>C (p.Lys466Thr) c.1409A>C (p.Lys470Thr) c.1403A>C (p.Lys468Thr) c.1406A>C (p.Lys469Thr) c.602A>C (p.Lys201Thr) c.1543A>C (n.1543A>C) | |
2 | g.233772363A>G | CA351076302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1397A>G (p.Lys466Arg) c.1409A>G (p.Lys470Arg) c.1403A>G (p.Lys468Arg) c.1406A>G (p.Lys469Arg) c.602A>G (p.Lys201Arg) c.1543A>G (n.1543A>G) | gnomAD v4 |
2 | g.233772363A>T | CA351076304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1397A>T (p.Lys466Met) c.1409A>T (p.Lys470Met) c.1403A>T (p.Lys468Met) c.1406A>T (p.Lys469Met) c.602A>T (p.Lys201Met) c.1543A>T (n.1543A>T) | |
2 | g.233772364G>A | CA431862665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1398G>A (p.Lys466=) c.1410G>A (p.Lys470=) c.1404G>A (p.Lys468=) c.1407G>A (p.Lys469=) c.603G>A (p.Lys201=) c.1544G>A (n.1544G>A) | dbSNP gnomAD v4 |
2 | g.233772364G>C | CA351076305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1398G>C (p.Lys466Asn) c.1410G>C (p.Lys470Asn) c.1404G>C (p.Lys468Asn) c.1407G>C (p.Lys469Asn) c.603G>C (p.Lys201Asn) c.1544G>C (n.1544G>C) | |
2 | g.233772364G>T | CA351076306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1398G>T (p.Lys466Asn) c.1410G>T (p.Lys470Asn) c.1404G>T (p.Lys468Asn) c.1407G>T (p.Lys469Asn) c.603G>T (p.Lys201Asn) c.1544G>T (n.1544G>T) | |
2 | g.233772365G>A | CA351076309 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1399G>A (p.Gly467Ser) c.1411G>A (p.Gly471Ser) c.1405G>A (p.Gly469Ser) c.1408G>A (p.Gly470Ser) c.604G>A (p.Gly202Ser) c.1545G>A (n.1545G>A) | dbSNP |
2 | g.233772365G>C | CA351076310 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1399G>C (p.Gly467Arg) c.1411G>C (p.Gly471Arg) c.1405G>C (p.Gly469Arg) c.1408G>C (p.Gly470Arg) c.604G>C (p.Gly202Arg) c.1545G>C (n.1545G>C) | |
2 | g.233772365G>T | CA351076312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1399G>T (p.Gly467Cys) c.1411G>T (p.Gly471Cys) c.1405G>T (p.Gly469Cys) c.1408G>T (p.Gly470Cys) c.604G>T (p.Gly202Cys) c.1545G>T (n.1545G>T) | |
2 | g.233772366G>A | CA351076313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1400G>A (p.Gly467Asp) c.1412G>A (p.Gly471Asp) c.1406G>A (p.Gly469Asp) c.1409G>A (p.Gly470Asp) c.605G>A (p.Gly202Asp) c.1546G>A (n.1546G>A) | dbSNP |
2 | g.233772366G>C | CA351076323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1400G>C (p.Gly467Ala) c.1412G>C (p.Gly471Ala) c.1406G>C (p.Gly469Ala) c.1409G>C (p.Gly470Ala) c.605G>C (p.Gly202Ala) c.1546G>C (n.1546G>C) | |
2 | g.233772366G= | CA1335897055 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1400G= (p.Gly467=) c.1412G= (p.Gly471=) c.1406G= (p.Gly469=) c.1409G= (p.Gly470=) c.605G= (p.Gly202=) c.1546G= (n.1546G=) | |
2 | g.233772366G>T | CA351076318 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1400G>T (p.Gly467Val) c.1412G>T (p.Gly471Val) c.1406G>T (p.Gly469Val) c.1409G>T (p.Gly470Val) c.605G>T (p.Gly202Val) c.1546G>T (n.1546G>T) | gnomAD v4 |
2 | g.233772367C>A | CA431862688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1401C>A (p.Gly467=) c.1413C>A (p.Gly471=) c.1407C>A (p.Gly469=) c.1410C>A (p.Gly470=) c.606C>A (p.Gly202=) c.1547C>A (n.1547C>A) | |
2 | g.233772367C= | CA1335897056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1401C= (p.Gly467=) c.1413C= (p.Gly471=) c.1407C= (p.Gly469=) c.1410C= (p.Gly470=) c.606C= (p.Gly202=) c.1547C= (n.1547C=) | |
2 | g.233772367C>G | CA431862682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1401C>G (p.Gly467=) c.1413C>G (p.Gly471=) c.1407C>G (p.Gly469=) c.1410C>G (p.Gly470=) c.606C>G (p.Gly202=) c.1547C>G (n.1547C>G) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772367C>T | CA2180118 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1401C>T (p.Gly467=) c.1413C>T (p.Gly471=) c.1407C>T (p.Gly469=) c.1410C>T (p.Gly470=) c.606C>T (p.Gly202=) c.1547C>T (n.1547C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772368G>A | CA2180119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1402G>A (p.Ala468Thr) c.1414G>A (p.Ala472Thr) c.1408G>A (p.Ala470Thr) c.1411G>A (p.Ala471Thr) c.607G>A (p.Ala203Thr) c.1548G>A (n.1548G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772368G>C | CA351076327 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1402G>C (p.Ala468Pro) c.1414G>C (p.Ala472Pro) c.1408G>C (p.Ala470Pro) c.1411G>C (p.Ala471Pro) c.607G>C (p.Ala203Pro) c.1548G>C (n.1548G>C) | gnomAD v4 |
2 | g.233772368G= | CA1335897057 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1402G= (p.Ala468=) c.1414G= (p.Ala472=) c.1408G= (p.Ala470=) c.1411G= (p.Ala471=) c.607G= (p.Ala203=) c.1548G= (n.1548G=) | |
2 | g.233772368G>T | CA351076330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1402G>T (p.Ala468Ser) c.1414G>T (p.Ala472Ser) c.1408G>T (p.Ala470Ser) c.1411G>T (p.Ala471Ser) c.607G>T (p.Ala203Ser) c.1548G>T (n.1548G>T) | |
2 | g.233772369C>A | CA351076333 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1403C>A (p.Ala468Glu) c.1415C>A (p.Ala472Glu) c.1409C>A (p.Ala470Glu) c.1412C>A (p.Ala471Glu) c.608C>A (p.Ala203Glu) c.1549C>A (n.1549C>A) | |
2 | g.233772369C= | CA1335897058 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1403C= (p.Ala468=) c.1415C= (p.Ala472=) c.1409C= (p.Ala470=) c.1412C= (p.Ala471=) c.608C= (p.Ala203=) c.1549C= (n.1549C=) | |
2 | g.233772369C>G | CA351076334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1403C>G (p.Ala468Gly) c.1415C>G (p.Ala472Gly) c.1409C>G (p.Ala470Gly) c.1412C>G (p.Ala471Gly) c.608C>G (p.Ala203Gly) c.1549C>G (n.1549C>G) | |
2 | g.233772369C>T | CA351076335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1403C>T (p.Ala468Val) c.1415C>T (p.Ala472Val) c.1409C>T (p.Ala470Val) c.1412C>T (p.Ala471Val) c.608C>T (p.Ala203Val) c.1549C>T (n.1549C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772370G>A | CA173846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1404G>A (p.Ala468=) c.1416G>A (p.Ala472=) c.1410G>A (p.Ala470=) c.1413G>A (p.Ala471=) c.609G>A (p.Ala203=) c.1550G>A (n.1550G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772370G>C | CA431862715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1404G>C (p.Ala468=) c.1416G>C (p.Ala472=) c.1410G>C (p.Ala470=) c.1413G>C (p.Ala471=) c.609G>C (p.Ala203=) c.1550G>C (n.1550G>C) | |
2 | g.233772370G= | CA1335897059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1404G= (p.Ala468=) c.1416G= (p.Ala472=) c.1410G= (p.Ala470=) c.1413G= (p.Ala471=) c.609G= (p.Ala203=) c.1550G= (n.1550G=) | |
2 | g.233772370G>T | CA431862718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1404G>T (p.Ala468=) c.1416G>T (p.Ala472=) c.1410G>T (p.Ala470=) c.1413G>T (p.Ala471=) c.609G>T (p.Ala203=) c.1550G>T (n.1550G>T) | |
2 | g.233772371C>A | CA351076336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1405C>A (p.Pro469Thr) c.1417C>A (p.Pro473Thr) c.1411C>A (p.Pro471Thr) c.1414C>A (p.Pro472Thr) c.610C>A (p.Pro204Thr) c.1551C>A (n.1551C>A) | |
2 | g.233772371C= | CA1335897060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1405C= (p.Pro469=) c.1417C= (p.Pro473=) c.1411C= (p.Pro471=) c.1414C= (p.Pro472=) c.610C= (p.Pro204=) c.1551C= (n.1551C=) | |
2 | g.233772371C>G | CA351076337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1405C>G (p.Pro469Ala) c.1417C>G (p.Pro473Ala) c.1411C>G (p.Pro471Ala) c.1414C>G (p.Pro472Ala) c.610C>G (p.Pro204Ala) c.1551C>G (n.1551C>G) | |
2 | g.233772371C>T | CA2180120 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1405C>T (p.Pro469Ser) c.1417C>T (p.Pro473Ser) c.1411C>T (p.Pro471Ser) c.1414C>T (p.Pro472Ser) c.610C>T (p.Pro204Ser) c.1551C>T (n.1551C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772372C>A | CA351076343 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1406C>A (p.Pro469Gln) c.1418C>A (p.Pro473Gln) c.1412C>A (p.Pro471Gln) c.1415C>A (p.Pro472Gln) c.611C>A (p.Pro204Gln) c.1552C>A (n.1552C>A) | |
2 | g.233772372C>G | CA351076345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1406C>G (p.Pro469Arg) c.1418C>G (p.Pro473Arg) c.1412C>G (p.Pro471Arg) c.1415C>G (p.Pro472Arg) c.611C>G (p.Pro204Arg) c.1552C>G (n.1552C>G) | |
2 | g.233772372C>T | CA351076340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1406C>T (p.Pro469Leu) c.1418C>T (p.Pro473Leu) c.1412C>T (p.Pro471Leu) c.1415C>T (p.Pro472Leu) c.611C>T (p.Pro204Leu) c.1552C>T (n.1552C>T) | |
2 | g.233772373A= | CA1335897061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1407A= (p.Pro469=) c.1419A= (p.Pro473=) c.1413A= (p.Pro471=) c.1416A= (p.Pro472=) c.612A= (p.Pro204=) c.1553A= (n.1553A=) | |
2 | g.233772373A>C | CA431862734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1407A>C (p.Pro469=) c.1419A>C (p.Pro473=) c.1413A>C (p.Pro471=) c.1416A>C (p.Pro472=) c.612A>C (p.Pro204=) c.1553A>C (n.1553A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772373A>G | CA431862736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1407A>G (p.Pro469=) c.1419A>G (p.Pro473=) c.1413A>G (p.Pro471=) c.1416A>G (p.Pro472=) c.612A>G (p.Pro204=) c.1553A>G (n.1553A>G) | |
2 | g.233772373A>T | CA431862739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1407A>T (p.Pro469=) c.1419A>T (p.Pro473=) c.1413A>T (p.Pro471=) c.1416A>T (p.Pro472=) c.612A>T (p.Pro204=) c.1553A>T (n.1553A>T) | |
2 | g.233772374C>A | CA351076362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1408C>A (p.His470Asn) c.1420C>A (p.His474Asn) c.1414C>A (p.His472Asn) c.1417C>A (p.His473Asn) c.613C>A (p.His205Asn) c.1554C>A (n.1554C>A) | |
2 | g.233772374C= | CA1335897062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1408C= (p.His470=) c.1420C= (p.His474=) c.1414C= (p.His472=) c.1417C= (p.His473=) c.613C= (p.His205=) c.1554C= (n.1554C=) | |
2 | g.233772374C>G | CA351076357 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1408C>G (p.His470Asp) c.1420C>G (p.His474Asp) c.1414C>G (p.His472Asp) c.1417C>G (p.His473Asp) c.613C>G (p.His205Asp) c.1554C>G (n.1554C>G) | |
2 | g.233772374C>T | CA2180121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1408C>T (p.His470Tyr) c.1420C>T (p.His474Tyr) c.1414C>T (p.His472Tyr) c.1417C>T (p.His473Tyr) c.613C>T (p.His205Tyr) c.1554C>T (n.1554C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772375A>C | CA351076364 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1409A>C (p.His470Pro) c.1421A>C (p.His474Pro) c.1415A>C (p.His472Pro) c.1418A>C (p.His473Pro) c.614A>C (p.His205Pro) c.1555A>C (n.1555A>C) | |
2 | g.233772375A>G | CA351076366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1409A>G (p.His470Arg) c.1421A>G (p.His474Arg) c.1415A>G (p.His472Arg) c.1418A>G (p.His473Arg) c.614A>G (p.His205Arg) c.1555A>G (n.1555A>G) | |
2 | g.233772375A>T | CA351076368 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1409A>T (p.His470Leu) c.1421A>T (p.His474Leu) c.1415A>T (p.His472Leu) c.1418A>T (p.His473Leu) c.614A>T (p.His205Leu) c.1555A>T (n.1555A>T) | |
2 | g.233772376C>A | CA351076370 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1410C>A (p.His470Gln) c.1422C>A (p.His474Gln) c.1416C>A (p.His472Gln) c.1419C>A (p.His473Gln) c.615C>A (p.His205Gln) c.1556C>A (n.1556C>A) | |
2 | g.233772376C>G | CA351076375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1410C>G (p.His470Gln) c.1422C>G (p.His474Gln) c.1416C>G (p.His472Gln) c.1419C>G (p.His473Gln) c.615C>G (p.His205Gln) c.1556C>G (n.1556C>G) | |
2 | g.233772376C>T | CA431862762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1410C>T (p.His470=) c.1422C>T (p.His474=) c.1416C>T (p.His472=) c.1419C>T (p.His473=) c.615C>T (p.His205=) c.1556C>T (n.1556C>T) | |
2 | g.233772377C>A | CA67599639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1411C>A (p.Leu471Met) c.1423C>A (p.Leu475Met) c.1417C>A (p.Leu473Met) c.1420C>A (p.Leu474Met) c.616C>A (p.Leu206Met) c.1557C>A (n.1557C>A) | dbSNP |
2 | g.233772377C= | CA1335897063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1411C= (p.Leu471=) c.1423C= (p.Leu475=) c.1417C= (p.Leu473=) c.1420C= (p.Leu474=) c.616C= (p.Leu206=) c.1557C= (n.1557C=) | |
2 | g.233772377C>G | CA351076378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1411C>G (p.Leu471Val) c.1423C>G (p.Leu475Val) c.1417C>G (p.Leu473Val) c.1420C>G (p.Leu474Val) c.616C>G (p.Leu206Val) c.1557C>G (n.1557C>G) | |
2 | g.233772377C>T | CA2180122 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1411C>T (p.Leu471=) c.1423C>T (p.Leu475=) c.1417C>T (p.Leu473=) c.1420C>T (p.Leu474=) c.616C>T (p.Leu206=) c.1557C>T (n.1557C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772378T>A | CA351076382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1412T>A (p.Leu471Gln) c.1424T>A (p.Leu475Gln) c.1418T>A (p.Leu473Gln) c.1421T>A (p.Leu474Gln) c.617T>A (p.Leu206Gln) c.1558T>A (n.1558T>A) | |
2 | g.233772378T>C | CA351076385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1412T>C (p.Leu471Pro) c.1424T>C (p.Leu475Pro) c.1418T>C (p.Leu473Pro) c.1421T>C (p.Leu474Pro) c.617T>C (p.Leu206Pro) c.1558T>C (n.1558T>C) | |
2 | g.233772378T>G | CA351076387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1412T>G (p.Leu471Arg) c.1424T>G (p.Leu475Arg) c.1418T>G (p.Leu473Arg) c.1421T>G (p.Leu474Arg) c.617T>G (p.Leu206Arg) c.1558T>G (n.1558T>G) | dbSNP |
2 | g.233772378T= | CA1335897064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1412T= (p.Leu471=) c.1424T= (p.Leu475=) c.1418T= (p.Leu473=) c.1421T= (p.Leu474=) c.617T= (p.Leu206=) c.1558T= (n.1558T=) | |
2 | g.233772379G>A | CA431862794 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1413G>A (p.Leu471=) c.1425G>A (p.Leu475=) c.1419G>A (p.Leu473=) c.1422G>A (p.Leu474=) c.618G>A (p.Leu206=) c.1559G>A (n.1559G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772379G>C | CA431862791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1413G>C (p.Leu471=) c.1425G>C (p.Leu475=) c.1419G>C (p.Leu473=) c.1422G>C (p.Leu474=) c.618G>C (p.Leu206=) c.1559G>C (n.1559G>C) | |
2 | g.233772379G= | CA1335897065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1413G= (p.Leu471=) c.1425G= (p.Leu475=) c.1419G= (p.Leu473=) c.1422G= (p.Leu474=) c.618G= (p.Leu206=) c.1559G= (n.1559G=) | |
2 | g.233772379G>T | CA431862786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1413G>T (p.Leu471=) c.1425G>T (p.Leu475=) c.1419G>T (p.Leu473=) c.1422G>T (p.Leu474=) c.618G>T (p.Leu206=) c.1559G>T (n.1559G>T) | |
2 | g.233772380C>A | CA2180123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1414C>A (p.Arg472Ser) c.1426C>A (p.Arg476Ser) c.1420C>A (p.Arg474Ser) c.1423C>A (p.Arg475Ser) c.619C>A (p.Arg207Ser) c.1560C>A (n.1560C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.233772380C= | CA1335897066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1414C= (p.Arg472=) c.1426C= (p.Arg476=) c.1420C= (p.Arg474=) c.1423C= (p.Arg475=) c.619C= (p.Arg207=) c.1560C= (n.1560C=) | |
2 | g.233772380C>G | CA351076389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1414C>G (p.Arg472Gly) c.1426C>G (p.Arg476Gly) c.1420C>G (p.Arg474Gly) c.1423C>G (p.Arg475Gly) c.619C>G (p.Arg207Gly) c.1560C>G (n.1560C>G) | |
2 | g.233772380C>T | CA67599643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1414C>T (p.Arg472Cys) c.1426C>T (p.Arg476Cys) c.1420C>T (p.Arg474Cys) c.1423C>T (p.Arg475Cys) c.619C>T (p.Arg207Cys) c.1560C>T (n.1560C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233772381G>A | CA67599659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1415G>A (p.Arg472His) c.1427G>A (p.Arg476His) c.1421G>A (p.Arg474His) c.1424G>A (p.Arg475His) c.620G>A (p.Arg207His) c.1561G>A (n.1561G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772381G>C | CA351076392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1415G>C (p.Arg472Pro) c.1427G>C (p.Arg476Pro) c.1421G>C (p.Arg474Pro) c.1424G>C (p.Arg475Pro) c.620G>C (p.Arg207Pro) c.1561G>C (n.1561G>C) | |
2 | g.233772381G= | CA1335897067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1415G= (p.Arg472=) c.1427G= (p.Arg476=) c.1421G= (p.Arg474=) c.1424G= (p.Arg475=) c.620G= (p.Arg207=) c.1561G= (n.1561G=) | |
2 | g.233772381G>T | CA351076394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1415G>T (p.Arg472Leu) c.1427G>T (p.Arg476Leu) c.1421G>T (p.Arg474Leu) c.1424G>T (p.Arg475Leu) c.620G>T (p.Arg207Leu) c.1561G>T (n.1561G>T) | |
2 | g.233772382C>A | CA431862820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1416C>A (p.Arg472=) c.1428C>A (p.Arg476=) c.1422C>A (p.Arg474=) c.1425C>A (p.Arg475=) c.621C>A (p.Arg207=) c.1562C>A (n.1562C>A) | |
2 | g.233772382C>G | CA431862823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1416C>G (p.Arg472=) c.1428C>G (p.Arg476=) c.1422C>G (p.Arg474=) c.1425C>G (p.Arg475=) c.621C>G (p.Arg207=) c.1562C>G (n.1562C>G) | |
2 | g.233772382C>T | CA431862817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1416C>T (p.Arg472=) c.1428C>T (p.Arg476=) c.1422C>T (p.Arg474=) c.1425C>T (p.Arg475=) c.621C>T (p.Arg207=) c.1562C>T (n.1562C>T) | gnomAD v4 |
2 | g.233772383C>A | CA351076396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1417C>A (p.Pro473Thr) c.1429C>A (p.Pro477Thr) c.1423C>A (p.Pro475Thr) c.1426C>A (p.Pro476Thr) c.622C>A (p.Pro208Thr) c.1563C>A (n.1563C>A) | |
2 | g.233772383C>G | CA351076398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1417C>G (p.Pro473Ala) c.1429C>G (p.Pro477Ala) c.1423C>G (p.Pro475Ala) c.1426C>G (p.Pro476Ala) c.622C>G (p.Pro208Ala) c.1563C>G (n.1563C>G) | |
2 | g.233772383C>T | CA351076399 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1417C>T (p.Pro473Ser) c.1429C>T (p.Pro477Ser) c.1423C>T (p.Pro475Ser) c.1426C>T (p.Pro476Ser) c.622C>T (p.Pro208Ser) c.1563C>T (n.1563C>T) | gnomAD v4 |
2 | g.233772384C>A | CA351076402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1418C>A (p.Pro473His) c.1430C>A (p.Pro477His) c.1424C>A (p.Pro475His) c.1427C>A (p.Pro476His) c.623C>A (p.Pro208His) c.1564C>A (n.1564C>A) | |
2 | g.233772384C>G | CA351076403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1418C>G (p.Pro473Arg) c.1430C>G (p.Pro477Arg) c.1424C>G (p.Pro475Arg) c.1427C>G (p.Pro476Arg) c.623C>G (p.Pro208Arg) c.1564C>G (n.1564C>G) | |
2 | g.233772384C>T | CA351076404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1418C>T (p.Pro473Leu) c.1430C>T (p.Pro477Leu) c.1424C>T (p.Pro475Leu) c.1427C>T (p.Pro476Leu) c.623C>T (p.Pro208Leu) c.1564C>T (n.1564C>T) | |
2 | g.233772385C>A | CA2180124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1419C>A (p.Pro473=) c.1431C>A (p.Pro477=) c.1425C>A (p.Pro475=) c.1428C>A (p.Pro476=) c.624C>A (p.Pro208=) c.1565C>A (n.1565C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772385C= | CA1335897068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1419C= (p.Pro473=) c.1431C= (p.Pro477=) c.1425C= (p.Pro475=) c.1428C= (p.Pro476=) c.624C= (p.Pro208=) c.1565C= (n.1565C=) | |
2 | g.233772385C>G | CA431862844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1419C>G (p.Pro473=) c.1431C>G (p.Pro477=) c.1425C>G (p.Pro475=) c.1428C>G (p.Pro476=) c.624C>G (p.Pro208=) c.1565C>G (n.1565C>G) | dbSNP |
2 | g.233772385C>T | CA173862 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1419C>T (p.Pro473=) c.1431C>T (p.Pro477=) c.1425C>T (p.Pro475=) c.1428C>T (p.Pro476=) c.624C>T (p.Pro208=) c.1565C>T (n.1565C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772386G>A | CA2180125 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1420G>A (p.Ala474Thr) c.1432G>A (p.Ala478Thr) c.1426G>A (p.Ala476Thr) c.1429G>A (p.Ala477Thr) c.625G>A (p.Ala209Thr) c.1566G>A (n.1566G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.233772386G>C | CA351076411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1420G>C (p.Ala474Pro) c.1432G>C (p.Ala478Pro) c.1426G>C (p.Ala476Pro) c.1429G>C (p.Ala477Pro) c.625G>C (p.Ala209Pro) c.1566G>C (n.1566G>C) | |
2 | g.233772386G= | CA1335897069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1420G= (p.Ala474=) c.1432G= (p.Ala478=) c.1426G= (p.Ala476=) c.1429G= (p.Ala477=) c.625G= (p.Ala209=) c.1566G= (n.1566G=) | |
2 | g.233772386G>T | CA249315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1420G>T (p.Ala474Ser) c.1432G>T (p.Ala478Ser) c.1426G>T (p.Ala476Ser) c.1429G>T (p.Ala477Ser) c.625G>T (p.Ala209Ser) c.1566G>T (n.1566G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |