| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233767061G>A | CA351071755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.883G>A (p.Gly295Arg) c.895G>A (p.Gly299Arg) c.889G>A (p.Gly297Arg) c.892G>A (p.Gly298Arg) c.88G>A (p.Gly30Arg) c.469G>A (n.469G>A) | |
| 2 | g.233767061G>C | CA351071758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.883G>C (p.Gly295Arg) c.895G>C (p.Gly299Arg) c.889G>C (p.Gly297Arg) c.892G>C (p.Gly298Arg) c.88G>C (p.Gly30Arg) c.469G>C (n.469G>C) | |
| 2 | g.233767061G>T | CA351071760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.883G>T (p.Gly295Ter) c.895G>T (p.Gly299Ter) c.889G>T (p.Gly297Ter) c.892G>T (p.Gly298Ter) c.88G>T (p.Gly30Ter) c.469G>T (n.469G>T) | |
| 2 | g.233767062G>A | CA351071762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.884G>A (p.Gly295Glu) c.896G>A (p.Gly299Glu) c.890G>A (p.Gly297Glu) c.893G>A (p.Gly298Glu) c.89G>A (p.Gly30Glu) c.470G>A (n.470G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767062G>C | CA351071763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.884G>C (p.Gly295Ala) c.896G>C (p.Gly299Ala) c.890G>C (p.Gly297Ala) c.893G>C (p.Gly298Ala) c.89G>C (p.Gly30Ala) c.470G>C (n.470G>C) | |
| 2 | g.233767062G= | CA1335894707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.884G= (p.Gly295=) c.896G= (p.Gly299=) c.890G= (p.Gly297=) c.893G= (p.Gly298=) c.89G= (p.Gly30=) c.470G= (n.470G=) | |
| 2 | g.233767062G>T | CA351071761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.884G>T (p.Gly295Val) c.896G>T (p.Gly299Val) c.890G>T (p.Gly297Val) c.893G>T (p.Gly298Val) c.89G>T (p.Gly30Val) c.470G>T (n.470G>T) | |
| 2 | g.233767063A= | CA1335894708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.885A= (p.Gly295=) c.897A= (p.Gly299=) c.891A= (p.Gly297=) c.894A= (p.Gly298=) c.90A= (p.Gly30=) c.471A= (n.471A=) | |
| 2 | g.233767063A>C | CA431855459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.885A>C (p.Gly295=) c.897A>C (p.Gly299=) c.891A>C (p.Gly297=) c.894A>C (p.Gly298=) c.90A>C (p.Gly30=) c.471A>C (n.471A>C) | |
| 2 | g.233767063A>G | CA431855458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.885A>G (p.Gly295=) c.897A>G (p.Gly299=) c.891A>G (p.Gly297=) c.894A>G (p.Gly298=) c.90A>G (p.Gly30=) c.471A>G (n.471A>G) | |
| 2 | g.233767063A>T | CA67595090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.885A>T (p.Gly295=) c.897A>T (p.Gly299=) c.891A>T (p.Gly297=) c.894A>T (p.Gly298=) c.90A>T (p.Gly30=) c.471A>T (n.471A>T) | dbSNP |
| 2 | g.233767064G>A | CA351071765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.886G>A (p.Glu296Lys) c.898G>A (p.Glu300Lys) c.892G>A (p.Glu298Lys) c.895G>A (p.Glu299Lys) c.91G>A (p.Glu31Lys) c.472G>A (n.472G>A) | |
| 2 | g.233767064G>C | CA351071766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.886G>C (p.Glu296Gln) c.898G>C (p.Glu300Gln) c.892G>C (p.Glu298Gln) c.895G>C (p.Glu299Gln) c.91G>C (p.Glu31Gln) c.472G>C (n.472G>C) | |
| 2 | g.233767064G>T | CA351071768 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.886G>T (p.Glu296Ter) c.898G>T (p.Glu300Ter) c.892G>T (p.Glu298Ter) c.895G>T (p.Glu299Ter) c.91G>T (p.Glu31Ter) c.472G>T (n.472G>T) | |
| 2 | g.233767065A>C | CA351071770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.887A>C (p.Glu296Ala) c.899A>C (p.Glu300Ala) c.893A>C (p.Glu298Ala) c.896A>C (p.Glu299Ala) c.92A>C (p.Glu31Ala) c.473A>C (n.473A>C) | |
| 2 | g.233767065A>G | CA351071771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.887A>G (p.Glu296Gly) c.899A>G (p.Glu300Gly) c.893A>G (p.Glu298Gly) c.896A>G (p.Glu299Gly) c.92A>G (p.Glu31Gly) c.473A>G (n.473A>G) | |
| 2 | g.233767065A>T | CA351071775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.887A>T (p.Glu296Val) c.899A>T (p.Glu300Val) c.893A>T (p.Glu298Val) c.896A>T (p.Glu299Val) c.92A>T (p.Glu31Val) c.473A>T (n.473A>T) | |
| 2 | g.233767066A>C | CA351071779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.888A>C (p.Glu296Asp) c.900A>C (p.Glu300Asp) c.894A>C (p.Glu298Asp) c.897A>C (p.Glu299Asp) c.93A>C (p.Glu31Asp) c.474A>C (n.474A>C) | |
| 2 | g.233767066A>G | CA431855483 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.888A>G (p.Glu296=) c.900A>G (p.Glu300=) c.894A>G (p.Glu298=) c.897A>G (p.Glu299=) c.93A>G (p.Glu31=) c.474A>G (n.474A>G) | |
| 2 | g.233767066A>T | CA351071781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.888A>T (p.Glu296Asp) c.900A>T (p.Glu300Asp) c.894A>T (p.Glu298Asp) c.897A>T (p.Glu299Asp) c.93A>T (p.Glu31Asp) c.474A>T (n.474A>T) | |
| 2 | g.233767067C>A | CA351071784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>A (p.His297Asn) c.901C>A (p.His301Asn) c.895C>A (p.His299Asn) c.898C>A (p.His300Asn) c.94C>A (p.His32Asn) c.475C>A (n.475C>A) | |
| 2 | g.233767067C>G | CA351071786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>G (p.His297Asp) c.901C>G (p.His301Asp) c.895C>G (p.His299Asp) c.898C>G (p.His300Asp) c.94C>G (p.His32Asp) c.475C>G (n.475C>G) | gnomAD v4 |
| 2 | g.233767067C>T | CA351071788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.889C>T (p.His297Tyr) c.901C>T (p.His301Tyr) c.895C>T (p.His299Tyr) c.898C>T (p.His300Tyr) c.94C>T (p.His32Tyr) c.475C>T (n.475C>T) | |
| 2 | g.233767068A= | CA1335894709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A= (p.His297=) c.902A= (p.His301=) c.896A= (p.His299=) c.899A= (p.His300=) c.95A= (p.His32=) c.476A= (n.476A=) | |
| 2 | g.233767068A>C | CA351071790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>C (p.His297Pro) c.902A>C (p.His301Pro) c.896A>C (p.His299Pro) c.899A>C (p.His300Pro) c.95A>C (p.His32Pro) c.476A>C (n.476A>C) | |
| 2 | g.233767068A>G | CA67595091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>G (p.His297Arg) c.902A>G (p.His301Arg) c.896A>G (p.His299Arg) c.899A>G (p.His300Arg) c.95A>G (p.His32Arg) c.476A>G (n.476A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767068A>T | CA351071793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.890A>T (p.His297Leu) c.902A>T (p.His301Leu) c.896A>T (p.His299Leu) c.899A>T (p.His300Leu) c.95A>T (p.His32Leu) c.476A>T (n.476A>T) | |
| 2 | g.233767069T>A | CA351071797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>A (p.His297Gln) c.903T>A (p.His301Gln) c.897T>A (p.His299Gln) c.900T>A (p.His300Gln) c.96T>A (p.His32Gln) c.477T>A (n.477T>A) | |
| 2 | g.233767069T>C | CA2179923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>C (p.His297=) c.903T>C (p.His301=) c.897T>C (p.His299=) c.900T>C (p.His300=) c.96T>C (p.His32=) c.477T>C (n.477T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767069T>G | CA351071796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T>G (p.His297Gln) c.903T>G (p.His301Gln) c.897T>G (p.His299Gln) c.900T>G (p.His300Gln) c.96T>G (p.His32Gln) c.477T>G (n.477T>G) | |
| 2 | g.233767069T= | CA1335894710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.891T= (p.His297=) c.903T= (p.His301=) c.897T= (p.His299=) c.900T= (p.His300=) c.96T= (p.His32=) c.477T= (n.477T=) | |
| 2 | g.233767070G>A | CA351071802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>A (p.Gly298Arg) c.904G>A (p.Gly302Arg) c.898G>A (p.Gly300Arg) c.901G>A (p.Gly301Arg) c.97G>A (p.Gly33Arg) c.478G>A (n.478G>A) | |
| 2 | g.233767070G>C | CA351071798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>C (p.Gly298Arg) c.904G>C (p.Gly302Arg) c.898G>C (p.Gly300Arg) c.901G>C (p.Gly301Arg) c.97G>C (p.Gly33Arg) c.478G>C (n.478G>C) | |
| 2 | g.233767070G>T | CA351071799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.892G>T (p.Gly298Ter) c.904G>T (p.Gly302Ter) c.898G>T (p.Gly300Ter) c.901G>T (p.Gly301Ter) c.97G>T (p.Gly33Ter) c.478G>T (n.478G>T) | |
| 2 | g.233767071G>A | CA351071809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>A (p.Gly298Glu) c.905G>A (p.Gly302Glu) c.899G>A (p.Gly300Glu) c.902G>A (p.Gly301Glu) c.98G>A (p.Gly33Glu) c.479G>A (n.479G>A) | dbSNP gnomAD v4 |
| 2 | g.233767071G>C | CA351071810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>C (p.Gly298Ala) c.905G>C (p.Gly302Ala) c.899G>C (p.Gly300Ala) c.902G>C (p.Gly301Ala) c.98G>C (p.Gly33Ala) c.479G>C (n.479G>C) | gnomAD v4 |
| 2 | g.233767071G= | CA1335894711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G= (p.Gly298=) c.905G= (p.Gly302=) c.899G= (p.Gly300=) c.902G= (p.Gly301=) c.98G= (p.Gly33=) c.479G= (n.479G=) | |
| 2 | g.233767071G>T | CA351071813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.893G>T (p.Gly298Val) c.905G>T (p.Gly302Val) c.899G>T (p.Gly300Val) c.902G>T (p.Gly301Val) c.98G>T (p.Gly33Val) c.479G>T (n.479G>T) | gnomAD v4 |
| 2 | g.233767072A>C | CA431855524 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>C (p.Gly298=) c.906A>C (p.Gly302=) c.900A>C (p.Gly300=) c.903A>C (p.Gly301=) c.99A>C (p.Gly33=) c.480A>C (n.480A>C) | |
| 2 | g.233767072A>G | CA431855522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>G (p.Gly298=) c.906A>G (p.Gly302=) c.900A>G (p.Gly300=) c.903A>G (p.Gly301=) c.99A>G (p.Gly33=) c.480A>G (n.480A>G) | |
| 2 | g.233767072A>T | CA431855520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.894A>T (p.Gly298=) c.906A>T (p.Gly302=) c.900A>T (p.Gly300=) c.903A>T (p.Gly301=) c.99A>T (p.Gly33=) c.480A>T (n.480A>T) | |
| 2 | g.233767073A= | CA1335894712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A= (p.Ile299=) c.907A= (p.Ile303=) c.901A= (p.Ile301=) c.904A= (p.Ile302=) c.100A= (p.Ile34=) c.481A= (n.481A=) | |
| 2 | g.233767073A>C | CA351071817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>C (p.Ile299Leu) c.907A>C (p.Ile303Leu) c.901A>C (p.Ile301Leu) c.904A>C (p.Ile302Leu) c.100A>C (p.Ile34Leu) c.481A>C (n.481A>C) | |
| 2 | g.233767073A>G | CA351071819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>G (p.Ile299Val) c.907A>G (p.Ile303Val) c.901A>G (p.Ile301Val) c.904A>G (p.Ile302Val) c.100A>G (p.Ile34Val) c.481A>G (n.481A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767073A>T | CA351071825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.895A>T (p.Ile299Phe) c.907A>T (p.Ile303Phe) c.901A>T (p.Ile301Phe) c.904A>T (p.Ile302Phe) c.100A>T (p.Ile34Phe) c.481A>T (n.481A>T) | |
| 2 | g.233767074T>A | CA351071828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>A (p.Ile299Asn) c.908T>A (p.Ile303Asn) c.902T>A (p.Ile301Asn) c.905T>A (p.Ile302Asn) c.101T>A (p.Ile34Asn) c.482T>A (n.482T>A) | |
| 2 | g.233767074T>C | CA2179924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>C (p.Ile299Thr) c.908T>C (p.Ile303Thr) c.902T>C (p.Ile301Thr) c.905T>C (p.Ile302Thr) c.101T>C (p.Ile34Thr) c.482T>C (n.482T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767074T>G | CA351071835 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T>G (p.Ile299Ser) c.908T>G (p.Ile303Ser) c.902T>G (p.Ile301Ser) c.905T>G (p.Ile302Ser) c.101T>G (p.Ile34Ser) c.482T>G (n.482T>G) | |
| 2 | g.233767074T= | CA1335894713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.896T= (p.Ile299=) c.908T= (p.Ile303=) c.902T= (p.Ile301=) c.905T= (p.Ile302=) c.101T= (p.Ile34=) c.482T= (n.482T=) | |
| 2 | g.233767075T>A | CA431855543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.897T>A (p.Ile299=) c.909T>A (p.Ile303=) c.903T>A (p.Ile301=) c.906T>A (p.Ile302=) c.102T>A (p.Ile34=) c.483T>A (n.483T>A) |