Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233772309C>A | CA351076036 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>A (p.Pro448Gln) c.1355C>A (p.Pro452Gln) c.1349C>A (p.Pro450Gln) c.1352C>A (p.Pro451Gln) c.548C>A (p.Pro183Gln) c.*151C>A (n.*151C>A) c.1489C>A (n.1489C>A) | |
2 | g.233772309C= | CA1335897017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C= (p.Pro448=) c.1355C= (p.Pro452=) c.1349C= (p.Pro450=) c.1352C= (p.Pro451=) c.548C= (p.Pro183=) c.*151C= (n.*151C=) c.1489C= (n.1489C=) | |
2 | g.233772309C>G | CA351076037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>G (p.Pro448Arg) c.1355C>G (p.Pro452Arg) c.1349C>G (p.Pro450Arg) c.1352C>G (p.Pro451Arg) c.548C>G (p.Pro183Arg) c.*151C>G (n.*151C>G) c.1489C>G (n.1489C>G) | |
2 | g.233772309C>T | CA245929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343C>T (p.Pro448Leu) c.1355C>T (p.Pro452Leu) c.1349C>T (p.Pro450Leu) c.1352C>T (p.Pro451Leu) c.548C>T (p.Pro183Leu) c.*151C>T (n.*151C>T) c.1489C>T (n.1489C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772309_233772313delinsCGGTG | CA1335897018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1343_1347delinsCGGTG (p.Pro448=) c.1355_1359delinsCGGTG (p.Pro452=) c.1349_1353delinsCGGTG (p.Pro450=) c.1352_1356delinsCGGTG (p.Pro451=) c.548_552delinsCGGTG (p.Pro183=) c.*151_*155delinsCGGTG (n.*151_*155delinsCGGTG) c.1489_1493delinsCGGTG (n.1489_1493delinsCGGTG) | |
2 | g.233772310G>A | CA2180100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>A (p.Pro448=) c.1356G>A (p.Pro452=) c.1350G>A (p.Pro450=) c.1353G>A (p.Pro451=) c.549G>A (p.Pro183=) c.*152G>A (n.*152G>A) c.1490G>A (n.1490G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772310G>C | CA2180099 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>C (p.Pro448=) c.1356G>C (p.Pro452=) c.1350G>C (p.Pro450=) c.1353G>C (p.Pro451=) c.549G>C (p.Pro183=) c.*152G>C (n.*152G>C) c.1490G>C (n.1490G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772310G= | CA1335897019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G= (p.Pro448=) c.1356G= (p.Pro452=) c.1350G= (p.Pro450=) c.1353G= (p.Pro451=) c.549G= (p.Pro183=) c.*152G= (n.*152G=) c.1490G= (n.1490G=) | |
2 | g.233772310G>T | CA431862334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1344G>T (p.Pro448=) c.1356G>T (p.Pro452=) c.1350G>T (p.Pro450=) c.1353G>T (p.Pro451=) c.549G>T (p.Pro183=) c.*152G>T (n.*152G>T) c.1490G>T (n.1490G>T) | dbSNP |
2 | g.233772311_233772314del | CA2180098 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345_1348del (p.Val449SerfsTer13) c.1357_1360del (p.Val453SerfsTer13) c.1351_1354del (p.Val451SerfsTer13) c.1354_1357del (p.Val452SerfsTer13) c.550_553del (p.Val184SerfsTer13) c.*153_*156del (n.*153_*156del) c.1491_1494del (n.1491_1494del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772311G>A | CA351076039 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>A (p.Val449Met) c.1357G>A (p.Val453Met) c.1351G>A (p.Val451Met) c.1354G>A (p.Val452Met) c.550G>A (p.Val184Met) c.*153G>A (n.*153G>A) c.1491G>A (n.1491G>A) | dbSNP |
2 | g.233772311G>C | CA351076041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>C (p.Val449Leu) c.1357G>C (p.Val453Leu) c.1351G>C (p.Val451Leu) c.1354G>C (p.Val452Leu) c.550G>C (p.Val184Leu) c.*153G>C (n.*153G>C) c.1491G>C (n.1491G>C) | |
2 | g.233772311G= | CA1335897020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G= (p.Val449=) c.1357G= (p.Val453=) c.1351G= (p.Val451=) c.1354G= (p.Val452=) c.550G= (p.Val184=) c.*153G= (n.*153G=) c.1491G= (n.1491G=) | |
2 | g.233772311G>T | CA173834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1345G>T (p.Val449Leu) c.1357G>T (p.Val453Leu) c.1351G>T (p.Val451Leu) c.1354G>T (p.Val452Leu) c.550G>T (p.Val184Leu) c.*153G>T (n.*153G>T) c.1491G>T (n.1491G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233772312T>A | CA351076043 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>A (p.Val449Glu) c.1358T>A (p.Val453Glu) c.1352T>A (p.Val451Glu) c.1355T>A (p.Val452Glu) c.551T>A (p.Val184Glu) c.*154T>A (n.*154T>A) c.1492T>A (n.1492T>A) | |
2 | g.233772312T>C | CA351076045 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>C (p.Val449Ala) c.1358T>C (p.Val453Ala) c.1352T>C (p.Val451Ala) c.1355T>C (p.Val452Ala) c.551T>C (p.Val184Ala) c.*154T>C (n.*154T>C) c.1492T>C (n.1492T>C) | |
2 | g.233772312T>G | CA351076042 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1346T>G (p.Val449Gly) c.1358T>G (p.Val453Gly) c.1352T>G (p.Val451Gly) c.1355T>G (p.Val452Gly) c.551T>G (p.Val184Gly) c.*154T>G (n.*154T>G) c.1492T>G (n.1492T>G) | |
2 | g.233772313G>A | CA431862337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>A (p.Val449=) c.1359G>A (p.Val453=) c.1353G>A (p.Val451=) c.1356G>A (p.Val452=) c.552G>A (p.Val184=) c.*155G>A (n.*155G>A) c.1493G>A (n.1493G>A) | dbSNP |
2 | g.233772313G>C | CA431862335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>C (p.Val449=) c.1359G>C (p.Val453=) c.1353G>C (p.Val451=) c.1356G>C (p.Val452=) c.552G>C (p.Val184=) c.*155G>C (n.*155G>C) c.1493G>C (n.1493G>C) | |
2 | g.233772313G= | CA1335897021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G= (p.Val449=) c.1359G= (p.Val453=) c.1353G= (p.Val451=) c.1356G= (p.Val452=) c.552G= (p.Val184=) c.*155G= (n.*155G=) c.1493G= (n.1493G=) | |
2 | g.233772313G>T | CA431862336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1347G>T (p.Val449=) c.1359G>T (p.Val453=) c.1353G>T (p.Val451=) c.1356G>T (p.Val452=) c.552G>T (p.Val184=) c.*155G>T (n.*155G>T) c.1493G>T (n.1493G>T) | |
2 | g.233772314G>A | CA351076046 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>A (p.Glu450Lys) c.1360G>A (p.Glu454Lys) c.1354G>A (p.Glu452Lys) c.1357G>A (p.Glu453Lys) c.553G>A (p.Glu185Lys) c.*156G>A (n.*156G>A) c.1494G>A (n.1494G>A) | |
2 | g.233772314G>C | CA351076047 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>C (p.Glu450Gln) c.1360G>C (p.Glu454Gln) c.1354G>C (p.Glu452Gln) c.1357G>C (p.Glu453Gln) c.553G>C (p.Glu185Gln) c.*156G>C (n.*156G>C) c.1494G>C (n.1494G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233772314G= | CA1335897022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G= (p.Glu450=) c.1360G= (p.Glu454=) c.1354G= (p.Glu452=) c.1357G= (p.Glu453=) c.553G= (p.Glu185=) c.*156G= (n.*156G=) c.1494G= (n.1494G=) | |
2 | g.233772314G>T | CA351076048 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1348G>T (p.Glu450Ter) c.1360G>T (p.Glu454Ter) c.1354G>T (p.Glu452Ter) c.1357G>T (p.Glu453Ter) c.553G>T (p.Glu185Ter) c.*156G>T (n.*156G>T) c.1494G>T (n.1494G>T) | gnomAD v4 |
2 | g.233772315A>C | CA351076049 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>C (p.Glu450Ala) c.1361A>C (p.Glu454Ala) c.1355A>C (p.Glu452Ala) c.1358A>C (p.Glu453Ala) c.554A>C (p.Glu185Ala) c.*157A>C (n.*157A>C) c.1495A>C (n.1495A>C) | |
2 | g.233772315A>G | CA351076050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>G (p.Glu450Gly) c.1361A>G (p.Glu454Gly) c.1355A>G (p.Glu452Gly) c.1358A>G (p.Glu453Gly) c.554A>G (p.Glu185Gly) c.*157A>G (n.*157A>G) c.1495A>G (n.1495A>G) | |
2 | g.233772315A>T | CA351076052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1349A>T (p.Glu450Val) c.1361A>T (p.Glu454Val) c.1355A>T (p.Glu452Val) c.1358A>T (p.Glu453Val) c.554A>T (p.Glu185Val) c.*157A>T (n.*157A>T) c.1495A>T (n.1495A>T) | gnomAD v4 |
2 | g.233772316G>A | CA431862338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>A (p.Glu450=) c.1362G>A (p.Glu454=) c.1356G>A (p.Glu452=) c.1359G>A (p.Glu453=) c.555G>A (p.Glu185=) c.*158G>A (n.*158G>A) c.1496G>A (n.1496G>A) | |
2 | g.233772316G>C | CA351076053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>C (p.Glu450Asp) c.1362G>C (p.Glu454Asp) c.1356G>C (p.Glu452Asp) c.1359G>C (p.Glu453Asp) c.555G>C (p.Glu185Asp) c.*158G>C (n.*158G>C) c.1496G>C (n.1496G>C) | |
2 | g.233772316G>T | CA351076054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1350G>T (p.Glu450Asp) c.1362G>T (p.Glu454Asp) c.1356G>T (p.Glu452Asp) c.1359G>T (p.Glu453Asp) c.555G>T (p.Glu185Asp) c.*158G>T (n.*158G>T) c.1496G>T (n.1496G>T) | |
2 | g.233772317C>A | CA351076056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>A (p.Pro451Thr) c.1363C>A (p.Pro455Thr) c.1357C>A (p.Pro453Thr) c.1360C>A (p.Pro454Thr) c.556C>A (p.Pro186Thr) c.*159C>A (n.*159C>A) c.1497C>A (n.1497C>A) | |
2 | g.233772317C>G | CA351076059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>G (p.Pro451Ala) c.1363C>G (p.Pro455Ala) c.1357C>G (p.Pro453Ala) c.1360C>G (p.Pro454Ala) c.556C>G (p.Pro186Ala) c.*159C>G (n.*159C>G) c.1497C>G (n.1497C>G) | |
2 | g.233772317C>T | CA351076062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1351C>T (p.Pro451Ser) c.1363C>T (p.Pro455Ser) c.1357C>T (p.Pro453Ser) c.1360C>T (p.Pro454Ser) c.556C>T (p.Pro186Ser) c.*159C>T (n.*159C>T) c.1497C>T (n.1497C>T) | |
2 | g.233772318C>A | CA351076064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>A (p.Pro451Gln) c.1364C>A (p.Pro455Gln) c.1358C>A (p.Pro453Gln) c.1361C>A (p.Pro454Gln) c.557C>A (p.Pro186Gln) c.*160C>A (n.*160C>A) c.1498C>A (n.1498C>A) | |
2 | g.233772318C= | CA1335897023 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C= (p.Pro451=) c.1364C= (p.Pro455=) c.1358C= (p.Pro453=) c.1361C= (p.Pro454=) c.557C= (p.Pro186=) c.*160C= (n.*160C=) c.1498C= (n.1498C=) | |
2 | g.233772318C>G | CA351076069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>G (p.Pro451Arg) c.1364C>G (p.Pro455Arg) c.1358C>G (p.Pro453Arg) c.1361C>G (p.Pro454Arg) c.557C>G (p.Pro186Arg) c.*160C>G (n.*160C>G) c.1498C>G (n.1498C>G) | gnomAD v4 |
2 | g.233772318C>T | CA2180101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1352C>T (p.Pro451Leu) c.1364C>T (p.Pro455Leu) c.1358C>T (p.Pro453Leu) c.1361C>T (p.Pro454Leu) c.557C>T (p.Pro186Leu) c.*160C>T (n.*160C>T) c.1498C>T (n.1498C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772319G>A | CA2180102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>A (p.Pro451=) c.1365G>A (p.Pro455=) c.1359G>A (p.Pro453=) c.1362G>A (p.Pro454=) c.558G>A (p.Pro186=) c.*161G>A (n.*161G>A) c.1499G>A (n.1499G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233772319G>C | CA431862339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>C (p.Pro451=) c.1365G>C (p.Pro455=) c.1359G>C (p.Pro453=) c.1362G>C (p.Pro454=) c.558G>C (p.Pro186=) c.*161G>C (n.*161G>C) c.1499G>C (n.1499G>C) | |
2 | g.233772319G= | CA1335897025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G= (p.Pro451=) c.1365G= (p.Pro455=) c.1359G= (p.Pro453=) c.1362G= (p.Pro454=) c.558G= (p.Pro186=) c.*161G= (n.*161G=) c.1499G= (n.1499G=) | |
2 | g.233772319G>T | CA431862340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353G>T (p.Pro451=) c.1365G>T (p.Pro455=) c.1359G>T (p.Pro453=) c.1362G>T (p.Pro454=) c.558G>T (p.Pro186=) c.*161G>T (n.*161G>T) c.1499G>T (n.1499G>T) | dbSNP gnomAD v4 |
2 | g.233772319_233772320insGG | CA1335897024 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1353_1354insGG (p.Leu452GlyfsTer12) c.1365_1366insGG (p.Leu456GlyfsTer12) c.1359_1360insGG (p.Leu454GlyfsTer12) c.1362_1363insGG (p.Leu455GlyfsTer12) c.558_559insGG (p.Leu187GlyfsTer12) c.*161_*162insGG (n.*161_*162insGG) c.1499_1500insGG (n.1499_1500insGG) | dbSNP |
2 | g.233772320C>A | CA351076078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>A (p.Leu452Met) c.1366C>A (p.Leu456Met) c.1360C>A (p.Leu454Met) c.1363C>A (p.Leu455Met) c.559C>A (p.Leu187Met) c.*162C>A (n.*162C>A) c.1500C>A (n.1500C>A) | |
2 | g.233772320C>G | CA351076076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>G (p.Leu452Val) c.1366C>G (p.Leu456Val) c.1360C>G (p.Leu454Val) c.1363C>G (p.Leu455Val) c.559C>G (p.Leu187Val) c.*162C>G (n.*162C>G) c.1500C>G (n.1500C>G) | |
2 | g.233772320C>T | CA431862341 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354C>T (p.Leu452=) c.1366C>T (p.Leu456=) c.1360C>T (p.Leu454=) c.1363C>T (p.Leu455=) c.559C>T (p.Leu187=) c.*162C>T (n.*162C>T) c.1500C>T (n.1500C>T) | |
2 | g.233772320_233772321del | CA2663719078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1354_1355del (p.Leu452GlyfsTer?) c.1366_1367del (p.Leu456GlyfsTer?) c.1360_1361del (p.Leu454GlyfsTer?) c.1363_1364del (p.Leu455GlyfsTer?) c.559_560del (p.Leu187GlyfsTer?) c.*162_*163del (n.*162_*163del) c.1500_1501del (n.1500_1501del) | gnomAD v4 |
2 | g.233772321T>A | CA351076081 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>A (p.Leu452Gln) c.1367T>A (p.Leu456Gln) c.1361T>A (p.Leu454Gln) c.1364T>A (p.Leu455Gln) c.560T>A (p.Leu187Gln) c.*163T>A (n.*163T>A) c.1501T>A (n.1501T>A) | |
2 | g.233772321T>C | CA351076080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>C (p.Leu452Pro) c.1367T>C (p.Leu456Pro) c.1361T>C (p.Leu454Pro) c.1364T>C (p.Leu455Pro) c.560T>C (p.Leu187Pro) c.*163T>C (n.*163T>C) c.1501T>C (n.1501T>C) | gnomAD v4 |
2 | g.233772321T>G | CA351076084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1355T>G (p.Leu452Arg) c.1367T>G (p.Leu456Arg) c.1361T>G (p.Leu454Arg) c.1364T>G (p.Leu455Arg) c.560T>G (p.Leu187Arg) c.*163T>G (n.*163T>G) c.1501T>G (n.1501T>G) | dbSNP |