Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233772309C>ACA351076036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772309C=CA1335897017UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772309C>GCA351076037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772309C>TCA245929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772309_233772313delinsCGGTGCA1335897018UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772310_233772320dupCA2754693593UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772310G>ACA2180100UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772310G>CCA2180099UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772310G=CA1335897019UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772310G>TCA431862334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772311_233772314delCA2180098UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772311G>ACA351076039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772311G>CCA351076041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772311G=CA1335897020UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772311G>TCA173834UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772312T>ACA351076043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772312T>CCA351076045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772312T>GCA351076042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772313G>ACA431862337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772313G>CCA431862335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772313G=CA1335897021UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772313G>TCA431862336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772314G>ACA351076046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772314G>CCA351076047UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772314G=CA1335897022UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772314G>TCA351076048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772315A>CCA351076049UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772315A>GCA351076050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772315A>TCA351076052UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772316G>ACA431862338UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772316G>CCA351076053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772316G>TCA351076054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772317C>ACA351076056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772317C>GCA351076059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772317C>TCA351076062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772318C>ACA351076064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772318C=CA1335897023UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772318C>GCA351076069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772318C>TCA2180101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772319G>ACA2180102UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772319G>CCA431862339UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772319G=CA1335897025UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772319G>TCA431862340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772319_233772320insGGCA1335897024UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772320C>ACA351076078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772320C>GCA351076076UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772320C>TCA431862341UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772320_233772321delCA2663719078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772321T>ACA351076081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772321T>CCA351076080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772321T>GCA351076084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772321T=CA1335897026UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772322G>ACA431862347UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772322G>CCA431862350UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772322G=CA1335897027UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772322G>TCA431862353UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772323G>ACA351076085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772323G>CCA351076090UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772323G=CA1335897028UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772323G>TCA67599490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772324delCA2663719087UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772324A=CA1335897029UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772324A>CCA351076093UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772324A>GCA351076095UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772324A>TCA351076094UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772325C>ACA351076096UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772325C=CA1335897030UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772325C>GCA2180104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772325C>TCA2180103UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772325_233772326insGTGTTCA2663719100UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772326C>ACA2180105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772326C=CA1335897031UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772326C>GCA351076101UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772326C>TCA431862381UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772327T>ACA67599503UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772327T>CCA351076104UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772327T>GCA351076105UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772327T=CA1335897032UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772328G>ACA431862400UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772328G>CCA431862402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772328G=CA1335897033UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772328G>TCA431862405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772329G>ACA351076106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772329G>CCA351076107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772329G=CA1335897034UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772329G>TCA351076108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772330C>ACA351076113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772330C=CA1335897035UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772330C>GCA351076114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772330C>TCA2180106UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772331C>ACA431862419UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772331C=CA1335897036UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772331C>GCA431862423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772331C>TCA2180107UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772332G>ACA351076118UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772332G>CCA351076123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772332G=CA1335897037UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772332G>TCA351076122UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772333T>ACA351076125UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772333T>CCA351076127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772333T>GCA351076129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772334G>ACA431862439UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772334G>CCA431862441UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772334G>TCA431862444UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772335T>ACA351076132UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772335T>CCA2180108UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772335T>GCA351076136UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772335T=CA1335897038UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772336T>ACA351076139UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772336T>CCA351076141UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772336T>GCA351076143UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772337C>ACA351076145UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772337C>GCA351076144UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772337C>TCA431862463UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772338T>ACA351076148UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772338T>CCA351076153UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772338T>GCA351076154UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772338T=CA1335897039UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772339G>ACA351076157UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772339G>CCA351076159UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772339G=CA1335897040UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772339G>TCA351076162UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772340G>ACA351076167UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772340G>CCA351076168UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772340G>TCA351076170UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772341G>ACA2180109UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772341G>CCA351076174UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772341G=CA1335897041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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=)
2g.233772341G>TCA351076177UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772342T>ACA351076185UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772342T>CCA351076181UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772342T>GCA351076179UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772343G>ACA431862505UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772343G>CCA431862507UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772343G=CA1335897042UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1377G= (p.Val459=)
c.1389G= (p.Val463=)
c.1383G= (p.Val461=)
c.1386G= (p.Val462=)
c.582G= (p.Val194=)
c.1523G= (n.1523G=)
2g.233772343G>TCA431862510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772344G>ACA2180110UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772344G>CCA351076188UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772344G=CA1335897043UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1378G= (p.Glu460=)
c.1390G= (p.Glu464=)
c.1384G= (p.Glu462=)
c.1387G= (p.Glu463=)
c.583G= (p.Glu195=)
c.1524G= (n.1524G=)
2g.233772344G>TCA351076189UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772345A=CA1335897044UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1379A= (p.Glu460=)
c.1391A= (p.Glu464=)
c.1385A= (p.Glu462=)
c.1388A= (p.Glu463=)
c.584A= (p.Glu195=)
c.1525A= (n.1525A=)
2g.233772345A>CCA67599534UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772345A>GCA2180111UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772345A>TCA2180112UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772346G>ACA431862537UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772346G>CCA2180113UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772346G=CA1335897046UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1380G= (p.Glu460=)
c.1392G= (p.Glu464=)
c.1386G= (p.Glu462=)
c.1389G= (p.Glu463=)
c.585G= (p.Glu195=)
c.1526G= (n.1526G=)
2g.233772346G>TCA351076195UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772346_233772347delinsGTCA1335897045UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772347T>ACA351076196UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772347T>CCA351076197UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772347T>GCA351076200UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772347T=CA1335897047UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1381T= (p.Phe461=)
c.1393T= (p.Phe465=)
c.1387T= (p.Phe463=)
c.1390T= (p.Phe464=)
c.586T= (p.Phe196=)
c.1527T= (n.1527T=)
2g.233772349delCA2180114UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772348T>ACA351076210UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772348T>CCA351076206UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772348T>GCA351076203UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772348T=CA1335897048UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1382T= (p.Phe461=)
c.1394T= (p.Phe465=)
c.1388T= (p.Phe463=)
c.1391T= (p.Phe464=)
c.587T= (p.Phe196=)
c.1528T= (n.1528T=)
2g.233772349T>ACA351076216UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772349T>CCA2180115UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772349T>GCA351076217UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772349T=CA1335897049UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1383T= (p.Phe461=)
c.1395T= (p.Phe465=)
c.1389T= (p.Phe463=)
c.1392T= (p.Phe464=)
c.588T= (p.Phe196=)
c.1529T= (n.1529T=)
2g.233772350G>ACA351076218UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772350G>CCA351076219UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772350G>TCA351076221UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772351T>ACA351076233UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772351T>CCA351076236UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772351T>GCA351076242UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772352G>ACA431862578UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772352G>CCA431862579UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772352G>TCA431862582UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772353A>CCA351076244UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772353A>GCA351076246UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772353A>TCA351076247UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772354T>ACA351076249UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772354T>CCA351076250UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772354T>GCA351076252UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772355G>ACA2180116UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772355G>CCA351076253UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772355G=CA1335897050UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1389G= (p.Met463=)
c.1401G= (p.Met467=)
c.1395G= (p.Met465=)
c.1398G= (p.Met466=)
c.594G= (p.Met198=)
c.1535G= (n.1535G=)
2g.233772355G>TCA351076256UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772356A=CA1335897051UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1390A= (p.Arg464=)
c.1402A= (p.Arg468=)
c.1396A= (p.Arg466=)
c.1399A= (p.Arg467=)
c.595A= (p.Arg199=)
c.1536A= (n.1536A=)
2g.233772356A>CCA431862604UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772356A>GCA351076259UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772356A>TCA351076261UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772357G>ACA2180117UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772357G>CCA351076266UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772357G=CA1335897052UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1391G= (p.Arg464=)
c.1403G= (p.Arg468=)
c.1397G= (p.Arg466=)
c.1400G= (p.Arg467=)
c.596G= (p.Arg199=)
c.1537G= (n.1537G=)
2g.233772357G>TCA351076267UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772358G>ACA431862622UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772358G>CCA351076269UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772358G>TCA351076271UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772359C>ACA351076273UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772359C=CA1335897053UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1393C= (p.His465=)
c.1405C= (p.His469=)
c.1399C= (p.His467=)
c.1402C= (p.His468=)
c.598C= (p.His200=)
c.1539C= (n.1539C=)
2g.233772359C>GCA351076274UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772359C>TCA351076275UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772360A>CCA351076281UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772360A>GCA351076279UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772360A>TCA351076277UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772361C>ACA351076283UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772361C>GCA351076286UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772361C>TCA431862644UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772362A=CA1335897054UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1396A= (p.Lys466=)
c.1408A= (p.Lys470=)
c.1402A= (p.Lys468=)
c.1405A= (p.Lys469=)
c.601A= (p.Lys201=)
c.1542A= (n.1542A=)
2g.233772362A>CCA351076292UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772362A>GCA351076294UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772362A>TCA351076296UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772363A>CCA351076298UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772363A>GCA351076302UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772363A>TCA351076304UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772364G>ACA431862665UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772364G>CCA351076305UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772364G>TCA351076306UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772365G>ACA351076309UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772365G>CCA351076310UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772365G>TCA351076312UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772366G>ACA351076313UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772366G>CCA351076323UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772366G=CA1335897055UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1400G= (p.Gly467=)
c.1412G= (p.Gly471=)
c.1406G= (p.Gly469=)
c.1409G= (p.Gly470=)
c.605G= (p.Gly202=)
c.1546G= (n.1546G=)
2g.233772366G>TCA351076318UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772367C>ACA431862688UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772367C=CA1335897056UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1401C= (p.Gly467=)
c.1413C= (p.Gly471=)
c.1407C= (p.Gly469=)
c.1410C= (p.Gly470=)
c.606C= (p.Gly202=)
c.1547C= (n.1547C=)
2g.233772367C>GCA431862682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772367C>TCA2180118UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772368G>ACA2180119UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772368G>CCA351076327UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772368G=CA1335897057UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1402G= (p.Ala468=)
c.1414G= (p.Ala472=)
c.1408G= (p.Ala470=)
c.1411G= (p.Ala471=)
c.607G= (p.Ala203=)
c.1548G= (n.1548G=)
2g.233772368G>TCA351076330UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772369C>ACA351076333UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772369C=CA1335897058UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1403C= (p.Ala468=)
c.1415C= (p.Ala472=)
c.1409C= (p.Ala470=)
c.1412C= (p.Ala471=)
c.608C= (p.Ala203=)
c.1549C= (n.1549C=)
2g.233772369C>GCA351076334UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772369C>TCA351076335UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772370G>ACA173846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772370G>CCA431862715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772370G=CA1335897059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1404G= (p.Ala468=)
c.1416G= (p.Ala472=)
c.1410G= (p.Ala470=)
c.1413G= (p.Ala471=)
c.609G= (p.Ala203=)
c.1550G= (n.1550G=)
2g.233772370G>TCA431862718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772371C>ACA351076336UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772371C=CA1335897060UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1405C= (p.Pro469=)
c.1417C= (p.Pro473=)
c.1411C= (p.Pro471=)
c.1414C= (p.Pro472=)
c.610C= (p.Pro204=)
c.1551C= (n.1551C=)
2g.233772371C>GCA351076337UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772371C>TCA2180120UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772372C>ACA351076343UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772372C>GCA351076345UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772372C>TCA351076340UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772373A=CA1335897061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1407A= (p.Pro469=)
c.1419A= (p.Pro473=)
c.1413A= (p.Pro471=)
c.1416A= (p.Pro472=)
c.612A= (p.Pro204=)
c.1553A= (n.1553A=)
2g.233772373A>CCA431862734UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772373A>GCA431862736UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772373A>TCA431862739UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772374C>ACA351076362UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772374C=CA1335897062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1408C= (p.His470=)
c.1420C= (p.His474=)
c.1414C= (p.His472=)
c.1417C= (p.His473=)
c.613C= (p.His205=)
c.1554C= (n.1554C=)
2g.233772374C>GCA351076357UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772374C>TCA2180121UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772375A>CCA351076364UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772375A>GCA351076366UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772375A>TCA351076368UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772376C>ACA351076370UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772376C>GCA351076375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772376C>TCA431862762UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772377C>ACA67599639UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772377C=CA1335897063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1411C= (p.Leu471=)
c.1423C= (p.Leu475=)
c.1417C= (p.Leu473=)
c.1420C= (p.Leu474=)
c.616C= (p.Leu206=)
c.1557C= (n.1557C=)
2g.233772377C>GCA351076378UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772377C>TCA2180122UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772378T>ACA351076382UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772378T>CCA351076385UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772378T>GCA351076387UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772378T=CA1335897064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1412T= (p.Leu471=)
c.1424T= (p.Leu475=)
c.1418T= (p.Leu473=)
c.1421T= (p.Leu474=)
c.617T= (p.Leu206=)
c.1558T= (n.1558T=)
2g.233772379G>ACA431862794UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772379G>CCA431862791UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772379G=CA1335897065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1413G= (p.Leu471=)
c.1425G= (p.Leu475=)
c.1419G= (p.Leu473=)
c.1422G= (p.Leu474=)
c.618G= (p.Leu206=)
c.1559G= (n.1559G=)
2g.233772379G>TCA431862786UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772380C>ACA2180123UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772380C=CA1335897066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1414C= (p.Arg472=)
c.1426C= (p.Arg476=)
c.1420C= (p.Arg474=)
c.1423C= (p.Arg475=)
c.619C= (p.Arg207=)
c.1560C= (n.1560C=)
2g.233772380C>GCA351076389UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772380C>TCA67599643UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772381G>ACA67599659UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772381G>CCA351076392UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772381G=CA1335897067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1415G= (p.Arg472=)
c.1427G= (p.Arg476=)
c.1421G= (p.Arg474=)
c.1424G= (p.Arg475=)
c.620G= (p.Arg207=)
c.1561G= (n.1561G=)
2g.233772381G>TCA351076394UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772382C>ACA431862820UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772382C>GCA431862823UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772382C>TCA431862817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772383C>ACA351076396UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772383C>GCA351076398UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772383C>TCA351076399UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772384C>ACA351076402UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772384C>GCA351076403UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772384C>TCA351076404UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772385C>ACA2180124UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772385C=CA1335897068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1419C= (p.Pro473=)
c.1431C= (p.Pro477=)
c.1425C= (p.Pro475=)
c.1428C= (p.Pro476=)
c.624C= (p.Pro208=)
c.1565C= (n.1565C=)
2g.233772385C>GCA431862844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772385C>TCA173862UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772386G>ACA2180125UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772386G>CCA351076411UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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)
2g.233772386G=CA1335897069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1420G= (p.Ala474=)
c.1432G= (p.Ala478=)
c.1426G= (p.Ala476=)
c.1429G= (p.Ala477=)
c.625G= (p.Ala209=)
c.1566G= (n.1566G=)
2g.233772386G>TCA249315UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.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
2g.233772387C>ACA351076414UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1421C>A (p.Ala474Glu)
c.1433C>A (p.Ala478Glu)
c.1427C>A (p.Ala476Glu)
c.1430C>A (p.Ala477Glu)
c.626C>A (p.Ala209Glu)
c.1567C>A (n.1567C>A)
 gnomAD v4
2g.233772387C>GCA351076423UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1421C>G (p.Ala474Gly)
c.1433C>G (p.Ala478Gly)
c.1427C>G (p.Ala476Gly)
c.1430C>G (p.Ala477Gly)
c.626C>G (p.Ala209Gly)
c.1567C>G (n.1567C>G)
2g.233772387C>TCA351076424UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1421C>T (p.Ala474Val)
c.1433C>T (p.Ala478Val)
c.1427C>T (p.Ala476Val)
c.1430C>T (p.Ala477Val)
c.626C>T (p.Ala209Val)
c.1567C>T (n.1567C>T)
 gnomAD v4
2g.233772388A=CA1335897070UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1422A= (p.Ala474=)
c.1434A= (p.Ala478=)
c.1428A= (p.Ala476=)
c.1431A= (p.Ala477=)
c.627A= (p.Ala209=)
c.1568A= (n.1568A=)
2g.233772388A>CCA431862863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1422A>C (p.Ala474=)
c.1434A>C (p.Ala478=)
c.1428A>C (p.Ala476=)
c.1431A>C (p.Ala477=)
c.627A>C (p.Ala209=)
c.1568A>C (n.1568A>C)
 dbSNP
2g.233772388A>GCA431862864UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1422A>G (p.Ala474=)
c.1434A>G (p.Ala478=)
c.1428A>G (p.Ala476=)
c.1431A>G (p.Ala477=)
c.627A>G (p.Ala209=)
c.1568A>G (n.1568A>G)
2g.233772388A>TCA431862861UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1422A>T (p.Ala474=)
c.1434A>T (p.Ala478=)
c.1428A>T (p.Ala476=)
c.1431A>T (p.Ala477=)
c.627A>T (p.Ala209=)
c.1568A>T (n.1568A>T)
2g.233772389G>ACA351076426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1423G>A (p.Ala475Thr)
c.1435G>A (p.Ala479Thr)
c.1429G>A (p.Ala477Thr)
c.1432G>A (p.Ala478Thr)
c.628G>A (p.Ala210Thr)
c.1569G>A (n.1569G>A)
2g.233772389G>CCA351076427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1423G>C (p.Ala475Pro)
c.1435G>C (p.Ala479Pro)
c.1429G>C (p.Ala477Pro)
c.1432G>C (p.Ala478Pro)
c.628G>C (p.Ala210Pro)
c.1569G>C (n.1569G>C)
2g.233772389G>TCA351076430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1423G>T (p.Ala475Ser)
c.1435G>T (p.Ala479Ser)
c.1429G>T (p.Ala477Ser)
c.1432G>T (p.Ala478Ser)
c.628G>T (p.Ala210Ser)
c.1569G>T (n.1569G>T)
2g.233772390C>ACA351076439UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1424C>A (p.Ala475Asp)
c.1436C>A (p.Ala479Asp)
c.1430C>A (p.Ala477Asp)
c.1433C>A (p.Ala478Asp)
c.629C>A (p.Ala210Asp)
c.1570C>A (n.1570C>A)
 dbSNP gnomAD v3 gnomAD v4
2g.233772390C=CA1335897071UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1424C= (p.Ala475=)
c.1436C= (p.Ala479=)
c.1430C= (p.Ala477=)
c.1433C= (p.Ala478=)
c.629C= (p.Ala210=)
c.1570C= (n.1570C=)
2g.233772390C>GCA351076446UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1424C>G (p.Ala475Gly)
c.1436C>G (p.Ala479Gly)
c.1430C>G (p.Ala477Gly)
c.1433C>G (p.Ala478Gly)
c.629C>G (p.Ala210Gly)
c.1570C>G (n.1570C>G)
2g.233772390C>TCA351076448UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1424C>T (p.Ala475Val)
c.1436C>T (p.Ala479Val)
c.1430C>T (p.Ala477Val)
c.1433C>T (p.Ala478Val)
c.629C>T (p.Ala210Val)
c.1570C>T (n.1570C>T)
2g.233772391C>ACA431862885UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1425C>A (p.Ala475=)
c.1437C>A (p.Ala479=)
c.1431C>A (p.Ala477=)
c.1434C>A (p.Ala478=)
c.630C>A (p.Ala210=)
c.1571C>A (n.1571C>A)
2g.233772391C=CA1335897072UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1425C= (p.Ala475=)
c.1437C= (p.Ala479=)
c.1431C= (p.Ala477=)
c.1434C= (p.Ala478=)
c.630C= (p.Ala210=)
c.1571C= (n.1571C=)
2g.233772391C>GCA431862887UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1425C>G (p.Ala475=)
c.1437C>G (p.Ala479=)
c.1431C>G (p.Ala477=)
c.1434C>G (p.Ala478=)
c.630C>G (p.Ala210=)
c.1571C>G (n.1571C>G)
2g.233772391C>TCA431862886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1425C>T (p.Ala475=)
c.1437C>T (p.Ala479=)
c.1431C>T (p.Ala477=)
c.1434C>T (p.Ala478=)
c.630C>T (p.Ala210=)
c.1571C>T (n.1571C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233772392C>ACA351076454UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1426C>A (p.His476Asn)
c.1438C>A (p.His480Asn)
c.1432C>A (p.His478Asn)
c.1435C>A (p.His479Asn)
c.631C>A (p.His211Asn)
c.1572C>A (n.1572C>A)
2g.233772392C=CA1335897073UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1426C= (p.His476=)
c.1438C= (p.His480=)
c.1432C= (p.His478=)
c.1435C= (p.His479=)
c.631C= (p.His211=)
c.1572C= (n.1572C=)
2g.233772392C>GCA351076456UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1426C>G (p.His476Asp)
c.1438C>G (p.His480Asp)
c.1432C>G (p.His478Asp)
c.1435C>G (p.His479Asp)
c.631C>G (p.His211Asp)
c.1572C>G (n.1572C>G)
2g.233772392C>TCA2180126UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1426C>T (p.His476Tyr)
c.1438C>T (p.His480Tyr)
c.1432C>T (p.His478Tyr)
c.1435C>T (p.His479Tyr)
c.631C>T (p.His211Tyr)
c.1572C>T (n.1572C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233772393A>CCA351076463UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1427A>C (p.His476Pro)
c.1439A>C (p.His480Pro)
c.1433A>C (p.His478Pro)
c.1436A>C (p.His479Pro)
c.632A>C (p.His211Pro)
c.1573A>C (n.1573A>C)
2g.233772393A>GCA351076465UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1427A>G (p.His476Arg)
c.1439A>G (p.His480Arg)
c.1433A>G (p.His478Arg)
c.1436A>G (p.His479Arg)
c.632A>G (p.His211Arg)
c.1573A>G (n.1573A>G)
2g.233772393A>TCA351076459UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1427A>T (p.His476Leu)
c.1439A>T (p.His480Leu)
c.1433A>T (p.His478Leu)
c.1436A>T (p.His479Leu)
c.632A>T (p.His211Leu)
c.1573A>T (n.1573A>T)
2g.233772394C>ACA2180128UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1428C>A (p.His476Gln)
c.1440C>A (p.His480Gln)
c.1434C>A (p.His478Gln)
c.1437C>A (p.His479Gln)
c.633C>A (p.His211Gln)
c.1574C>A (n.1574C>A)
 dbSNP ExAC gnomAD v2
2g.233772394C=CA1335897074UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1428C= (p.His476=)
c.1440C= (p.His480=)
c.1434C= (p.His478=)
c.1437C= (p.His479=)
c.633C= (p.His211=)
c.1574C= (n.1574C=)
2g.233772394C>GCA351076468UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1428C>G (p.His476Gln)
c.1440C>G (p.His480Gln)
c.1434C>G (p.His478Gln)
c.1437C>G (p.His479Gln)
c.633C>G (p.His211Gln)
c.1574C>G (n.1574C>G)
2g.233772394C>TCA2180127UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1428C>T (p.His476=)
c.1440C>T (p.His480=)
c.1434C>T (p.His478=)
c.1437C>T (p.His479=)
c.633C>T (p.His211=)
c.1574C>T (n.1574C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233772395G>ACA2180129UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1429G>A (p.Asp477Asn)
c.1441G>A (p.Asp481Asn)
c.1435G>A (p.Asp479Asn)
c.1438G>A (p.Asp480Asn)
c.634G>A (p.Asp212Asn)
c.1575G>A (n.1575G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233772395G>CCA351076471UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1429G>C (p.Asp477His)
c.1441G>C (p.Asp481His)
c.1435G>C (p.Asp479His)
c.1438G>C (p.Asp480His)
c.634G>C (p.Asp212His)
c.1575G>C (n.1575G>C)
2g.233772395G=CA1335897075UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1429G= (p.Asp477=)
c.1441G= (p.Asp481=)
c.1435G= (p.Asp479=)
c.1438G= (p.Asp480=)
c.634G= (p.Asp212=)
c.1575G= (n.1575G=)
2g.233772395G>TCA351076472UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1429G>T (p.Asp477Tyr)
c.1441G>T (p.Asp481Tyr)
c.1435G>T (p.Asp479Tyr)
c.1438G>T (p.Asp480Tyr)
c.634G>T (p.Asp212Tyr)
c.1575G>T (n.1575G>T)
 gnomAD v4
2g.233772396A>CCA351076474UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1430A>C (p.Asp477Ala)
c.1442A>C (p.Asp481Ala)
c.1436A>C (p.Asp479Ala)
c.1439A>C (p.Asp480Ala)
c.635A>C (p.Asp212Ala)
c.1576A>C (n.1576A>C)
2g.233772396A>GCA351076481UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1430A>G (p.Asp477Gly)
c.1442A>G (p.Asp481Gly)
c.1436A>G (p.Asp479Gly)
c.1439A>G (p.Asp480Gly)
c.635A>G (p.Asp212Gly)
c.1576A>G (n.1576A>G)
2g.233772396A>TCA351076475UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1430A>T (p.Asp477Val)
c.1442A>T (p.Asp481Val)
c.1436A>T (p.Asp479Val)
c.1439A>T (p.Asp480Val)
c.635A>T (p.Asp212Val)
c.1576A>T (n.1576A>T)
2g.233772397C>ACA351076484UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1431C>A (p.Asp477Glu)
c.1443C>A (p.Asp481Glu)
c.1437C>A (p.Asp479Glu)
c.1440C>A (p.Asp480Glu)
c.636C>A (p.Asp212Glu)
c.1577C>A (n.1577C>A)
 gnomAD v4
2g.233772397C>GCA351076485UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1431C>G (p.Asp477Glu)
c.1443C>G (p.Asp481Glu)
c.1437C>G (p.Asp479Glu)
c.1440C>G (p.Asp480Glu)
c.636C>G (p.Asp212Glu)
c.1577C>G (n.1577C>G)
2g.233772397C>TCA431862929UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1431C>T (p.Asp477=)
c.1443C>T (p.Asp481=)
c.1437C>T (p.Asp479=)
c.1440C>T (p.Asp480=)
c.636C>T (p.Asp212=)
c.1577C>T (n.1577C>T)
2g.233772398C>ACA351076487UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1432C>A (p.Leu478Ile)
c.1444C>A (p.Leu482Ile)
c.1438C>A (p.Leu480Ile)
c.1441C>A (p.Leu481Ile)
c.637C>A (p.Leu213Ile)
c.1578C>A (n.1578C>A)
2g.233772398C=CA1335897076UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1432C= (p.Leu478=)
c.1444C= (p.Leu482=)
c.1438C= (p.Leu480=)
c.1441C= (p.Leu481=)
c.637C= (p.Leu213=)
c.1578C= (n.1578C=)
2g.233772398C>GCA351076488UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1432C>G (p.Leu478Val)
c.1444C>G (p.Leu482Val)
c.1438C>G (p.Leu480Val)
c.1441C>G (p.Leu481Val)
c.637C>G (p.Leu213Val)
c.1578C>G (n.1578C>G)
2g.233772398C>TCA351076489UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1432C>T (p.Leu478Phe)
c.1444C>T (p.Leu482Phe)
c.1438C>T (p.Leu480Phe)
c.1441C>T (p.Leu481Phe)
c.637C>T (p.Leu213Phe)
c.1578C>T (n.1578C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.233772399T>ACA351076491UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1433T>A (p.Leu478His)
c.1445T>A (p.Leu482His)
c.1439T>A (p.Leu480His)
c.1442T>A (p.Leu481His)
c.638T>A (p.Leu213His)
c.1579T>A (n.1579T>A)
2g.233772399T>CCA351076493UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1433T>C (p.Leu478Pro)
c.1445T>C (p.Leu482Pro)
c.1439T>C (p.Leu480Pro)
c.1442T>C (p.Leu481Pro)
c.638T>C (p.Leu213Pro)
c.1579T>C (n.1579T>C)
2g.233772399T>GCA351076490UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1433T>G (p.Leu478Arg)
c.1445T>G (p.Leu482Arg)
c.1439T>G (p.Leu480Arg)
c.1442T>G (p.Leu481Arg)
c.638T>G (p.Leu213Arg)
c.1579T>G (n.1579T>G)
2g.233772400C>ACA431862952UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1434C>A (p.Leu478=)
c.1446C>A (p.Leu482=)
c.1440C>A (p.Leu480=)
c.1443C>A (p.Leu481=)
c.639C>A (p.Leu213=)
c.1580C>A (n.1580C>A)
2g.233772400C=CA1335897077UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1434C= (p.Leu478=)
c.1446C= (p.Leu482=)
c.1440C= (p.Leu480=)
c.1443C= (p.Leu481=)
c.639C= (p.Leu213=)
c.1580C= (n.1580C=)
2g.233772400C>GCA431862947UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1434C>G (p.Leu478=)
c.1446C>G (p.Leu482=)
c.1440C>G (p.Leu480=)
c.1443C>G (p.Leu481=)
c.639C>G (p.Leu213=)
c.1580C>G (n.1580C>G)
2g.233772400C>TCA431862950UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1434C>T (p.Leu478=)
c.1446C>T (p.Leu482=)
c.1440C>T (p.Leu480=)
c.1443C>T (p.Leu481=)
c.639C>T (p.Leu213=)
c.1580C>T (n.1580C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233772401A=CA1335897078UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1435A= (p.Thr479=)
c.1447A= (p.Thr483=)
c.1441A= (p.Thr481=)
c.1444A= (p.Thr482=)
c.640A= (p.Thr214=)
c.1581A= (n.1581A=)
2g.233772401A>CCA351076502UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1435A>C (p.Thr479Pro)
c.1447A>C (p.Thr483Pro)
c.1441A>C (p.Thr481Pro)
c.1444A>C (p.Thr482Pro)
c.640A>C (p.Thr214Pro)
c.1581A>C (n.1581A>C)
2g.233772401A>GCA351076500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1435A>G (p.Thr479Ala)
c.1447A>G (p.Thr483Ala)
c.1441A>G (p.Thr481Ala)
c.1444A>G (p.Thr482Ala)
c.640A>G (p.Thr214Ala)
c.1581A>G (n.1581A>G)
2g.233772401A>TCA351076501UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1435A>T (p.Thr479Ser)
c.1447A>T (p.Thr483Ser)
c.1441A>T (p.Thr481Ser)
c.1444A>T (p.Thr482Ser)
c.640A>T (p.Thr214Ser)
c.1581A>T (n.1581A>T)
 dbSNP
2g.233772402C>ACA351076503UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1436C>A (p.Thr479Asn)
c.1448C>A (p.Thr483Asn)
c.1442C>A (p.Thr481Asn)
c.1445C>A (p.Thr482Asn)
c.641C>A (p.Thr214Asn)
c.1582C>A (n.1582C>A)
2g.233772402C=CA1335897079UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1436C= (p.Thr479=)
c.1448C= (p.Thr483=)
c.1442C= (p.Thr481=)
c.1445C= (p.Thr482=)
c.641C= (p.Thr214=)
c.1582C= (n.1582C=)
2g.233772402C>GCA351076504UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1436C>G (p.Thr479Ser)
c.1448C>G (p.Thr483Ser)
c.1442C>G (p.Thr481Ser)
c.1445C>G (p.Thr482Ser)
c.641C>G (p.Thr214Ser)
c.1582C>G (n.1582C>G)
2g.233772402C>TCA351076506UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1436C>T (p.Thr479Ile)
c.1448C>T (p.Thr483Ile)
c.1442C>T (p.Thr481Ile)
c.1445C>T (p.Thr482Ile)
c.641C>T (p.Thr214Ile)
c.1582C>T (n.1582C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233772403C>ACA431862973UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1437C>A (p.Thr479=)
c.1449C>A (p.Thr483=)
c.1443C>A (p.Thr481=)
c.1446C>A (p.Thr482=)
c.642C>A (p.Thr214=)
c.1583C>A (n.1583C>A)
2g.233772403C=CA1335897080UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1437C= (p.Thr479=)
c.1449C= (p.Thr483=)
c.1443C= (p.Thr481=)
c.1446C= (p.Thr482=)
c.642C= (p.Thr214=)
c.1583C= (n.1583C=)
2g.233772403C>GCA431862967UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1437C>G (p.Thr479=)
c.1449C>G (p.Thr483=)
c.1443C>G (p.Thr481=)
c.1446C>G (p.Thr482=)
c.642C>G (p.Thr214=)
c.1583C>G (n.1583C>G)
2g.233772403C>TCA431862970UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1437C>T (p.Thr479=)
c.1449C>T (p.Thr483=)
c.1443C>T (p.Thr481=)
c.1446C>T (p.Thr482=)
c.642C>T (p.Thr214=)
c.1583C>T (n.1583C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233772404T>ACA351076512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1438T>A (p.Trp480Arg)
c.1450T>A (p.Trp484Arg)
c.1444T>A (p.Trp482Arg)
c.1447T>A (p.Trp483Arg)
c.643T>A (p.Trp215Arg)
c.1584T>A (n.1584T>A)
2g.233772404T>CCA351076511UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1438T>C (p.Trp480Arg)
c.1450T>C (p.Trp484Arg)
c.1444T>C (p.Trp482Arg)
c.1447T>C (p.Trp483Arg)
c.643T>C (p.Trp215Arg)
c.1584T>C (n.1584T>C)
 gnomAD v4
2g.233772404T>GCA351076510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1438T>G (p.Trp480Gly)
c.1450T>G (p.Trp484Gly)
c.1444T>G (p.Trp482Gly)
c.1447T>G (p.Trp483Gly)
c.643T>G (p.Trp215Gly)
c.1584T>G (n.1584T>G)
2g.233772405G>ACA351076513UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1439G>A (p.Trp480Ter)
c.1451G>A (p.Trp484Ter)
c.1445G>A (p.Trp482Ter)
c.1448G>A (p.Trp483Ter)
c.644G>A (p.Trp215Ter)
c.1585G>A (n.1585G>A)
2g.233772405G>CCA351076514UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1439G>C (p.Trp480Ser)
c.1451G>C (p.Trp484Ser)
c.1445G>C (p.Trp482Ser)
c.1448G>C (p.Trp483Ser)
c.644G>C (p.Trp215Ser)
c.1585G>C (n.1585G>C)
2g.233772405G=CA1335897081UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1439G= (p.Trp480=)
c.1451G= (p.Trp484=)
c.1445G= (p.Trp482=)
c.1448G= (p.Trp483=)
c.644G= (p.Trp215=)
c.1585G= (n.1585G=)
2g.233772405G>TCA351076516UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1439G>T (p.Trp480Leu)
c.1451G>T (p.Trp484Leu)
c.1445G>T (p.Trp482Leu)
c.1448G>T (p.Trp483Leu)
c.644G>T (p.Trp215Leu)
c.1585G>T (n.1585G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.233772406G>ACA67599725UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1440G>A (p.Trp480Ter)
c.1452G>A (p.Trp484Ter)
c.1446G>A (p.Trp482Ter)
c.1449G>A (p.Trp483Ter)
c.645G>A (p.Trp215Ter)
c.1586G>A (n.1586G>A)
 dbSNP gnomAD v4
2g.233772406G>CCA351076517UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1440G>C (p.Trp480Cys)
c.1452G>C (p.Trp484Cys)
c.1446G>C (p.Trp482Cys)
c.1449G>C (p.Trp483Cys)
c.645G>C (p.Trp215Cys)
c.1586G>C (n.1586G>C)
2g.233772406G=CA1335897082UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1440G= (p.Trp480=)
c.1452G= (p.Trp484=)
c.1446G= (p.Trp482=)
c.1449G= (p.Trp483=)
c.645G= (p.Trp215=)
c.1586G= (n.1586G=)
2g.233772406G>TCA351076518UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1440G>T (p.Trp480Cys)
c.1452G>T (p.Trp484Cys)
c.1446G>T (p.Trp482Cys)
c.1449G>T (p.Trp483Cys)
c.645G>T (p.Trp215Cys)
c.1586G>T (n.1586G>T)
2g.233772407T>ACA351076521UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1441T>A (p.Tyr481Asn)
c.1453T>A (p.Tyr485Asn)
c.1447T>A (p.Tyr483Asn)
c.1450T>A (p.Tyr484Asn)
c.646T>A (p.Tyr216Asn)
c.1587T>A (n.1587T>A)
2g.233772407T>CCA2180130UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1441T>C (p.Tyr481His)
c.1453T>C (p.Tyr485His)
c.1447T>C (p.Tyr483His)
c.1450T>C (p.Tyr484His)
c.646T>C (p.Tyr216His)
c.1587T>C (n.1587T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233772407T>GCA351076523UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1441T>G (p.Tyr481Asp)
c.1453T>G (p.Tyr485Asp)
c.1447T>G (p.Tyr483Asp)
c.1450T>G (p.Tyr484Asp)
c.646T>G (p.Tyr216Asp)
c.1587T>G (n.1587T>G)
2g.233772407T=CA1335897083UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1441T= (p.Tyr481=)
c.1453T= (p.Tyr485=)
c.1447T= (p.Tyr483=)
c.1450T= (p.Tyr484=)
c.646T= (p.Tyr216=)
c.1587T= (n.1587T=)
2g.233772408A=CA1335897084UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1442A= (p.Tyr481=)
c.1454A= (p.Tyr485=)
c.1448A= (p.Tyr483=)
c.1451A= (p.Tyr484=)
c.647A= (p.Tyr216=)
c.1588A= (n.1588A=)
2g.233772408A>CCA351076526UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1442A>C (p.Tyr481Ser)
c.1454A>C (p.Tyr485Ser)
c.1448A>C (p.Tyr483Ser)
c.1451A>C (p.Tyr484Ser)
c.647A>C (p.Tyr216Ser)
c.1588A>C (n.1588A>C)
 dbSNP gnomAD v4
2g.233772408A>GCA351076529UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1442A>G (p.Tyr481Cys)
c.1454A>G (p.Tyr485Cys)
c.1448A>G (p.Tyr483Cys)
c.1451A>G (p.Tyr484Cys)
c.647A>G (p.Tyr216Cys)
c.1588A>G (n.1588A>G)
2g.233772408A>TCA351076530UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1442A>T (p.Tyr481Phe)
c.1454A>T (p.Tyr485Phe)
c.1448A>T (p.Tyr483Phe)
c.1451A>T (p.Tyr484Phe)
c.647A>T (p.Tyr216Phe)
c.1588A>T (n.1588A>T)
 gnomAD v4
2g.233772409C>ACA351076533UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1443C>A (p.Tyr481Ter)
c.1455C>A (p.Tyr485Ter)
c.1449C>A (p.Tyr483Ter)
c.1452C>A (p.Tyr484Ter)
c.648C>A (p.Tyr216Ter)
c.1589C>A (n.1589C>A)
2g.233772409C=CA1335897085UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1443C= (p.Tyr481=)
c.1455C= (p.Tyr485=)
c.1449C= (p.Tyr483=)
c.1452C= (p.Tyr484=)
c.648C= (p.Tyr216=)
c.1589C= (n.1589C=)
2g.233772409C>GCA351076536UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1443C>G (p.Tyr481Ter)
c.1455C>G (p.Tyr485Ter)
c.1449C>G (p.Tyr483Ter)
c.1452C>G (p.Tyr484Ter)
c.648C>G (p.Tyr216Ter)
c.1589C>G (n.1589C>G)
2g.233772409C>TCA2180131UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.1443C>T (p.Tyr481=)
c.1455C>T (p.Tyr485=)
c.1449C>T (p.Tyr483=)
c.1452C>T (p.Tyr484=)
c.648C>T (p.Tyr216=)
c.1589C>T (n.1589C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched