UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233768182G>A | CA1335895219 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-38G>A (n.1076-38G>A) c.1088-38G>A (n.1088-38G>A) c.1082-38G>A (n.1082-38G>A) c.1085-38G>A (n.1085-38G>A) c.281-38G>A (n.281-38G>A) | dbSNP |
| 2 | g.233768182G= | CA1335895218 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-38G= (n.1076-38G=) c.1088-38G= (n.1088-38G=) c.1082-38G= (n.1082-38G=) c.1085-38G= (n.1085-38G=) c.281-38G= (n.281-38G=) | |
| 2 | g.233768183A= | CA1335895220 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-37A= (n.1076-37A=) c.1088-37A= (n.1088-37A=) c.1082-37A= (n.1082-37A=) c.1085-37A= (n.1085-37A=) c.281-37A= (n.281-37A=) | |
| 2 | g.233768183A>G | CA1335895221 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-37A>G (n.1076-37A>G) c.1088-37A>G (n.1088-37A>G) c.1082-37A>G (n.1082-37A>G) c.1085-37A>G (n.1085-37A>G) c.281-37A>G (n.281-37A>G) | dbSNP gnomAD v4 |
| 2 | g.233768183A>T | CA2180002 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-37A>T (n.1076-37A>T) c.1088-37A>T (n.1088-37A>T) c.1082-37A>T (n.1082-37A>T) c.1085-37A>T (n.1085-37A>T) c.281-37A>T (n.281-37A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233768184T>A | CA2663717373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-36T>A (n.1076-36T>A) c.1088-36T>A (n.1088-36T>A) c.1082-36T>A (n.1082-36T>A) c.1085-36T>A (n.1085-36T>A) c.281-36T>A (n.281-36T>A) | gnomAD v4 |
| 2 | g.233768184T>C | CA1335895223 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-36T>C (n.1076-36T>C) c.1088-36T>C (n.1088-36T>C) c.1082-36T>C (n.1082-36T>C) c.1085-36T>C (n.1085-36T>C) c.281-36T>C (n.281-36T>C) | dbSNP |
| 2 | g.233768184T= | CA1335895222 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-36T= (n.1076-36T=) c.1088-36T= (n.1088-36T=) c.1082-36T= (n.1082-36T=) c.1085-36T= (n.1085-36T=) c.281-36T= (n.281-36T=) | |
| 2 | g.233768186T>C | CA540311604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-34T>C (n.1076-34T>C) c.1088-34T>C (n.1088-34T>C) c.1082-34T>C (n.1082-34T>C) c.1085-34T>C (n.1085-34T>C) c.281-34T>C (n.281-34T>C) | dbSNP gnomAD v2 |
| 2 | g.233768186T= | CA1335895224 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-34T= (n.1076-34T=) c.1088-34T= (n.1088-34T=) c.1082-34T= (n.1082-34T=) c.1085-34T= (n.1085-34T=) c.281-34T= (n.281-34T=) | |
| 2 | g.233768188A>G | CA2663717374 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-32A>G (n.1076-32A>G) c.1088-32A>G (n.1088-32A>G) c.1082-32A>G (n.1082-32A>G) c.1085-32A>G (n.1085-32A>G) c.281-32A>G (n.281-32A>G) | gnomAD v4 |
| 2 | g.233768189C>A | CA2577284442 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-31C>A (n.1076-31C>A) c.1088-31C>A (n.1088-31C>A) c.1082-31C>A (n.1082-31C>A) c.1085-31C>A (n.1085-31C>A) c.281-31C>A (n.281-31C>A) | |
| 2 | g.233768189C>T | CA2663717375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-31C>T (n.1076-31C>T) c.1088-31C>T (n.1088-31C>T) c.1082-31C>T (n.1082-31C>T) c.1085-31C>T (n.1085-31C>T) c.281-31C>T (n.281-31C>T) | gnomAD v4 |
| 2 | g.233768193del | CA2663717376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-27del (n.1076-27del) c.1088-27del (n.1088-27del) c.1082-27del (n.1082-27del) c.1085-27del (n.1085-27del) c.281-27del (n.281-27del) | gnomAD v4 |
| 2 | g.233768194G>T | CA2663717377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-26G>T (n.1076-26G>T) c.1088-26G>T (n.1088-26G>T) c.1082-26G>T (n.1082-26G>T) c.1085-26G>T (n.1085-26G>T) c.281-26G>T (n.281-26G>T) | gnomAD v4 |
| 2 | g.233768195A= | CA1335895225 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-25A= (n.1076-25A=) c.1088-25A= (n.1088-25A=) c.1082-25A= (n.1082-25A=) c.1085-25A= (n.1085-25A=) c.281-25A= (n.281-25A=) | |
| 2 | g.233768195A>C | CA2180003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-25A>C (n.1076-25A>C) c.1088-25A>C (n.1088-25A>C) c.1082-25A>C (n.1082-25A>C) c.1085-25A>C (n.1085-25A>C) c.281-25A>C (n.281-25A>C) | dbSNP ExAC gnomAD v2 |
| 2 | g.233768195A>G | CA67596128 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-25A>G (n.1076-25A>G) c.1088-25A>G (n.1088-25A>G) c.1082-25A>G (n.1082-25A>G) c.1085-25A>G (n.1085-25A>G) c.281-25A>G (n.281-25A>G) | dbSNP |
| 2 | g.233768197A>G | CA2663717378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-23A>G (n.1076-23A>G) c.1088-23A>G (n.1088-23A>G) c.1082-23A>G (n.1082-23A>G) c.1085-23A>G (n.1085-23A>G) c.281-23A>G (n.281-23A>G) | gnomAD v4 |
| 2 | g.233768202C>A | CA2577284443 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-18C>A (n.1076-18C>A) c.1088-18C>A (n.1088-18C>A) c.1082-18C>A (n.1082-18C>A) c.1085-18C>A (n.1085-18C>A) c.281-18C>A (n.281-18C>A) | gnomAD v4 |
| 2 | g.233768204C>T | CA2577284444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-16C>T (n.1076-16C>T) c.1088-16C>T (n.1088-16C>T) c.1082-16C>T (n.1082-16C>T) c.1085-16C>T (n.1085-16C>T) c.281-16C>T (n.281-16C>T) | |
| 2 | g.233768205T>C | CA540311605 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-15T>C (n.1076-15T>C) c.1088-15T>C (n.1088-15T>C) c.1082-15T>C (n.1082-15T>C) c.1085-15T>C (n.1085-15T>C) c.281-15T>C (n.281-15T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233768205T= | CA1335895226 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-15T= (n.1076-15T=) c.1088-15T= (n.1088-15T=) c.1082-15T= (n.1082-15T=) c.1085-15T= (n.1085-15T=) c.281-15T= (n.281-15T=) | |
| 2 | g.233768207T>G | CA540311606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-13T>G (n.1076-13T>G) c.1088-13T>G (n.1088-13T>G) c.1082-13T>G (n.1082-13T>G) c.1085-13T>G (n.1085-13T>G) c.281-13T>G (n.281-13T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233768207T= | CA1335895227 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-13T= (n.1076-13T=) c.1088-13T= (n.1088-13T=) c.1082-13T= (n.1082-13T=) c.1085-13T= (n.1085-13T=) c.281-13T= (n.281-13T=) | |
| 2 | g.233768209T>C | CA2180004 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-11T>C (n.1076-11T>C) c.1088-11T>C (n.1088-11T>C) c.1082-11T>C (n.1082-11T>C) c.1085-11T>C (n.1085-11T>C) c.281-11T>C (n.281-11T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233768209T= | CA1335895228 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-11T= (n.1076-11T=) c.1088-11T= (n.1088-11T=) c.1082-11T= (n.1082-11T=) c.1085-11T= (n.1085-11T=) c.281-11T= (n.281-11T=) | |
| 2 | g.233768210T>G | CA2663717379 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-10T>G (n.1076-10T>G) c.1088-10T>G (n.1088-10T>G) c.1082-10T>G (n.1082-10T>G) c.1085-10T>G (n.1085-10T>G) c.281-10T>G (n.281-10T>G) | gnomAD v4 |
| 2 | g.233768211G>T | CA2577284445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-9G>T (n.1076-9G>T) c.1088-9G>T (n.1088-9G>T) c.1082-9G>T (n.1082-9G>T) c.1085-9G>T (n.1085-9G>T) c.281-9G>T (n.281-9G>T) | |
| 2 | g.233768214T>C | CA540311607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-6T>C (n.1076-6T>C) c.1088-6T>C (n.1088-6T>C) c.1082-6T>C (n.1082-6T>C) c.1085-6T>C (n.1085-6T>C) c.281-6T>C (n.281-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233768214T= | CA1335895229 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-6T= (n.1076-6T=) c.1088-6T= (n.1088-6T=) c.1082-6T= (n.1082-6T=) c.1085-6T= (n.1085-6T=) c.281-6T= (n.281-6T=) | |
| 2 | g.233768215C>T | CA2663717380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-5C>T (n.1076-5C>T) c.1088-5C>T (n.1088-5C>T) c.1082-5C>T (n.1082-5C>T) c.1085-5C>T (n.1085-5C>T) c.281-5C>T (n.281-5C>T) | gnomAD v4 |
| 2 | g.233768218A= | CA1335895230 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-2A= (n.1076-2A=) c.1088-2A= (n.1088-2A=) c.1082-2A= (n.1082-2A=) c.1085-2A= (n.1085-2A=) c.281-2A= (n.281-2A=) | |
| 2 | g.233768218A>C | CA351073624 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-2A>C (n.1076-2A>C) c.1088-2A>C (n.1088-2A>C) c.1082-2A>C (n.1082-2A>C) c.1085-2A>C (n.1085-2A>C) c.281-2A>C (n.281-2A>C) | |
| 2 | g.233768218A>G | CA122077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-2A>G (n.1076-2A>G) c.1088-2A>G (n.1088-2A>G) c.1082-2A>G (n.1082-2A>G) c.1085-2A>G (n.1085-2A>G) c.281-2A>G (n.281-2A>G) | ClinVar dbSNP |
| 2 | g.233768218A>T | CA351073633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-2A>T (n.1076-2A>T) c.1088-2A>T (n.1088-2A>T) c.1082-2A>T (n.1082-2A>T) c.1085-2A>T (n.1085-2A>T) c.281-2A>T (n.281-2A>T) | |
| 2 | g.233768219G>A | CA351073640 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-1G>A (n.1076-1G>A) c.1088-1G>A (n.1088-1G>A) c.1082-1G>A (n.1082-1G>A) c.1085-1G>A (n.1085-1G>A) c.281-1G>A (n.281-1G>A) | |
| 2 | g.233768219G>C | CA351073642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-1G>C (n.1076-1G>C) c.1088-1G>C (n.1088-1G>C) c.1082-1G>C (n.1082-1G>C) c.1085-1G>C (n.1085-1G>C) c.281-1G>C (n.281-1G>C) | |
| 2 | g.233768219G>T | CA351073646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076-1G>T (n.1076-1G>T) c.1088-1G>T (n.1088-1G>T) c.1082-1G>T (n.1082-1G>T) c.1085-1G>T (n.1085-1G>T) c.281-1G>T (n.281-1G>T) | gnomAD v4 |
| 2 | g.233768220G>A | CA351073651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076G>A (p.Gly359Asp) c.1088G>A (p.Gly363Asp) c.1082G>A (p.Gly361Asp) c.1085G>A (p.Gly362Asp) c.281G>A (p.Gly94Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768220G>C | CA351073653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076G>C (p.Gly359Ala) c.1088G>C (p.Gly363Ala) c.1082G>C (p.Gly361Ala) c.1085G>C (p.Gly362Ala) c.281G>C (p.Gly94Ala) | |
| 2 | g.233768220G= | CA1335895231 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076G= (p.Gly359=) c.1088G= (p.Gly363=) c.1082G= (p.Gly361=) c.1085G= (p.Gly362=) c.281G= (p.Gly94=) | |
| 2 | g.233768220G>T | CA2180005 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1076G>T (p.Gly359Val) c.1088G>T (p.Gly363Val) c.1082G>T (p.Gly361Val) c.1085G>T (p.Gly362Val) c.281G>T (p.Gly94Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768221T>A | CA431858083 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1077T>A (p.Gly359=) c.1089T>A (p.Gly363=) c.1083T>A (p.Gly361=) c.1086T>A (p.Gly362=) c.282T>A (p.Gly94=) | |
| 2 | g.233768221T>C | CA431858084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1077T>C (p.Gly359=) c.1089T>C (p.Gly363=) c.1083T>C (p.Gly361=) c.1086T>C (p.Gly362=) c.282T>C (p.Gly94=) | |
| 2 | g.233768221T>G | CA431858085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1077T>G (p.Gly359=) c.1089T>G (p.Gly363=) c.1083T>G (p.Gly361=) c.1086T>G (p.Gly362=) c.282T>G (p.Gly94=) | |
| 2 | g.233768222C>A | CA351073663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1078C>A (p.His360Asn) c.1090C>A (p.His364Asn) c.1084C>A (p.His362Asn) c.1087C>A (p.His363Asn) c.283C>A (p.His95Asn) | |
| 2 | g.233768222C>G | CA351073665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1078C>G (p.His360Asp) c.1090C>G (p.His364Asp) c.1084C>G (p.His362Asp) c.1087C>G (p.His363Asp) c.283C>G (p.His95Asp) | gnomAD v4 |
| 2 | g.233768222C>T | CA351073666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1078C>T (p.His360Tyr) c.1090C>T (p.His364Tyr) c.1084C>T (p.His362Tyr) c.1087C>T (p.His363Tyr) c.283C>T (p.His95Tyr) | |
| 2 | g.233768223A>C | CA351073668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1079A>C (p.His360Pro) c.1091A>C (p.His364Pro) c.1085A>C (p.His362Pro) c.1088A>C (p.His363Pro) c.284A>C (p.His95Pro) | |
| 2 | g.233768223A>G | CA351073669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1079A>G (p.His360Arg) c.1091A>G (p.His364Arg) c.1085A>G (p.His362Arg) c.1088A>G (p.His363Arg) c.284A>G (p.His95Arg) | |
| 2 | g.233768223A>T | CA351073667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1079A>T (p.His360Leu) c.1091A>T (p.His364Leu) c.1085A>T (p.His362Leu) c.1088A>T (p.His363Leu) c.284A>T (p.His95Leu) | |
| 2 | g.233768224C>A | CA351073682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1080C>A (p.His360Gln) c.1092C>A (p.His364Gln) c.1086C>A (p.His362Gln) c.1089C>A (p.His363Gln) c.285C>A (p.His95Gln) | |
| 2 | g.233768224C= | CA1335895232 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1080C= (p.His360=) c.1092C= (p.His364=) c.1086C= (p.His362=) c.1089C= (p.His363=) c.285C= (p.His95=) | |
| 2 | g.233768224C>G | CA351073685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1080C>G (p.His360Gln) c.1092C>G (p.His364Gln) c.1086C>G (p.His362Gln) c.1089C>G (p.His363Gln) c.285C>G (p.His95Gln) | |
| 2 | g.233768224C>T | CA2180006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1080C>T (p.His360=) c.1092C>T (p.His364=) c.1086C>T (p.His362=) c.1089C>T (p.His363=) c.285C>T (p.His95=) | dbSNP ExAC gnomAD v4 |
| 2 | g.233768225C>A | CA351073693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1081C>A (p.Pro361Thr) c.1093C>A (p.Pro365Thr) c.1087C>A (p.Pro363Thr) c.1090C>A (p.Pro364Thr) c.286C>A (p.Pro96Thr) | |
| 2 | g.233768225C>G | CA351073697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1081C>G (p.Pro361Ala) c.1093C>G (p.Pro365Ala) c.1087C>G (p.Pro363Ala) c.1090C>G (p.Pro364Ala) c.286C>G (p.Pro96Ala) | |
| 2 | g.233768225C>T | CA351073700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1081C>T (p.Pro361Ser) c.1093C>T (p.Pro365Ser) c.1087C>T (p.Pro363Ser) c.1090C>T (p.Pro364Ser) c.286C>T (p.Pro96Ser) | gnomAD v4 |
| 2 | g.233768226C>A | CA351073704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>A (p.Pro361Gln) c.1094C>A (p.Pro365Gln) c.1088C>A (p.Pro363Gln) c.1091C>A (p.Pro364Gln) c.287C>A (p.Pro96Gln) | gnomAD v4 |
| 2 | g.233768226C= | CA1335895233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C= (p.Pro361=) c.1094C= (p.Pro365=) c.1088C= (p.Pro363=) c.1091C= (p.Pro364=) c.287C= (p.Pro96=) | |
| 2 | g.233768226C>G | CA351073708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>G (p.Pro361Arg) c.1094C>G (p.Pro365Arg) c.1088C>G (p.Pro363Arg) c.1091C>G (p.Pro364Arg) c.287C>G (p.Pro96Arg) | dbSNP |
| 2 | g.233768226C>T | CA209149 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>T (p.Pro361Leu) c.1094C>T (p.Pro365Leu) c.1088C>T (p.Pro363Leu) c.1091C>T (p.Pro364Leu) c.287C>T (p.Pro96Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G>A | CA2180007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>A (p.Pro361=) c.1095G>A (p.Pro365=) c.1089G>A (p.Pro363=) c.1092G>A (p.Pro364=) c.288G>A (p.Pro96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G>C | CA67596165 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>C (p.Pro361=) c.1095G>C (p.Pro365=) c.1089G>C (p.Pro363=) c.1092G>C (p.Pro364=) c.288G>C (p.Pro96=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768227G= | CA1335895234 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G= (p.Pro361=) c.1095G= (p.Pro365=) c.1089G= (p.Pro363=) c.1092G= (p.Pro364=) c.288G= (p.Pro96=) | |
| 2 | g.233768227G>T | CA431858124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1083G>T (p.Pro361=) c.1095G>T (p.Pro365=) c.1089G>T (p.Pro363=) c.1092G>T (p.Pro364=) c.288G>T (p.Pro96=) | |
| 2 | g.233768228A= | CA1335895235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A= (p.Met362=) c.1096A= (p.Met366=) c.1090A= (p.Met364=) c.1093A= (p.Met365=) c.289A= (p.Met97=) | |
| 2 | g.233768228A>C | CA351073710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>C (p.Met362Leu) c.1096A>C (p.Met366Leu) c.1090A>C (p.Met364Leu) c.1093A>C (p.Met365Leu) c.289A>C (p.Met97Leu) | |
| 2 | g.233768228A>G | CA2180008 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>G (p.Met362Val) c.1096A>G (p.Met366Val) c.1090A>G (p.Met364Val) c.1093A>G (p.Met365Val) c.289A>G (p.Met97Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768228A>T | CA351073714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1084A>T (p.Met362Leu) c.1096A>T (p.Met366Leu) c.1090A>T (p.Met364Leu) c.1093A>T (p.Met365Leu) c.289A>T (p.Met97Leu) | |
| 2 | g.233768229T>A | CA351073718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>A (p.Met362Lys) c.1097T>A (p.Met366Lys) c.1091T>A (p.Met364Lys) c.1094T>A (p.Met365Lys) c.290T>A (p.Met97Lys) | |
| 2 | g.233768229T>C | CA2180009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>C (p.Met362Thr) c.1097T>C (p.Met366Thr) c.1091T>C (p.Met364Thr) c.1094T>C (p.Met365Thr) c.290T>C (p.Met97Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768229T>G | CA351073719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T>G (p.Met362Arg) c.1097T>G (p.Met366Arg) c.1091T>G (p.Met364Arg) c.1094T>G (p.Met365Arg) c.290T>G (p.Met97Arg) | |
| 2 | g.233768229T= | CA1335895236 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1085T= (p.Met362=) c.1097T= (p.Met366=) c.1091T= (p.Met364=) c.1094T= (p.Met365=) c.290T= (p.Met97=) | |
| 2 | g.233768230G>A | CA351073723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>A (p.Met362Ile) c.1098G>A (p.Met366Ile) c.1092G>A (p.Met364Ile) c.1095G>A (p.Met365Ile) c.291G>A (p.Met97Ile) | |
| 2 | g.233768230G>C | CA351073724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>C (p.Met362Ile) c.1098G>C (p.Met366Ile) c.1092G>C (p.Met364Ile) c.1095G>C (p.Met365Ile) c.291G>C (p.Met97Ile) | |
| 2 | g.233768230G>T | CA351073726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1086G>T (p.Met362Ile) c.1098G>T (p.Met366Ile) c.1092G>T (p.Met364Ile) c.1095G>T (p.Met365Ile) c.291G>T (p.Met97Ile) | |
| 2 | g.233768231A>C | CA351073730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>C (p.Thr363Pro) c.1099A>C (p.Thr367Pro) c.1093A>C (p.Thr365Pro) c.1096A>C (p.Thr366Pro) c.292A>C (p.Thr98Pro) | |
| 2 | g.233768231A>G | CA351073734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>G (p.Thr363Ala) c.1099A>G (p.Thr367Ala) c.1093A>G (p.Thr365Ala) c.1096A>G (p.Thr366Ala) c.292A>G (p.Thr98Ala) | gnomAD v4 |
| 2 | g.233768231A>T | CA351073736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1087A>T (p.Thr363Ser) c.1099A>T (p.Thr367Ser) c.1093A>T (p.Thr365Ser) c.1096A>T (p.Thr366Ser) c.292A>T (p.Thr98Ser) | gnomAD v4 |
| 2 | g.233768232C>A | CA351073739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>A (p.Thr363Asn) c.1100C>A (p.Thr367Asn) c.1094C>A (p.Thr365Asn) c.1097C>A (p.Thr366Asn) c.293C>A (p.Thr98Asn) | dbSNP |
| 2 | g.233768232C= | CA1335895237 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C= (p.Thr363=) c.1100C= (p.Thr367=) c.1094C= (p.Thr365=) c.1097C= (p.Thr366=) c.293C= (p.Thr98=) | |
| 2 | g.233768232C>G | CA351073746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>G (p.Thr363Ser) c.1100C>G (p.Thr367Ser) c.1094C>G (p.Thr365Ser) c.1097C>G (p.Thr366Ser) c.293C>G (p.Thr98Ser) | |
| 2 | g.233768232C>T | CA351073748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1088C>T (p.Thr363Ile) c.1100C>T (p.Thr367Ile) c.1094C>T (p.Thr365Ile) c.1097C>T (p.Thr366Ile) c.293C>T (p.Thr98Ile) | |
| 2 | g.233768234_233768239del | CA2754693427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090_1095del (p.Arg364_Ala365del) c.1102_1107del (p.Arg368_Ala369del) c.1096_1101del (p.Arg366_Ala367del) c.1099_1104del (p.Arg367_Ala368del) c.295_300del (p.Arg99_Ala100del) | |
| 2 | g.233768233C>A | CA431858164 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>A (p.Thr363=) c.1101C>A (p.Thr367=) c.1095C>A (p.Thr365=) c.1098C>A (p.Thr366=) c.294C>A (p.Thr98=) | dbSNP gnomAD v4 |
| 2 | g.233768233C= | CA1335895238 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C= (p.Thr363=) c.1101C= (p.Thr367=) c.1095C= (p.Thr365=) c.1098C= (p.Thr366=) c.294C= (p.Thr98=) | |
| 2 | g.233768233C>G | CA431858156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>G (p.Thr363=) c.1101C>G (p.Thr367=) c.1095C>G (p.Thr365=) c.1098C>G (p.Thr366=) c.294C>G (p.Thr98=) | |
| 2 | g.233768233C>T | CA431858155 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1089C>T (p.Thr363=) c.1101C>T (p.Thr367=) c.1095C>T (p.Thr365=) c.1098C>T (p.Thr366=) c.294C>T (p.Thr98=) | |
| 2 | g.233768234C>A | CA351073751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>A (p.Arg364Ser) c.1102C>A (p.Arg368Ser) c.1096C>A (p.Arg366Ser) c.1099C>A (p.Arg367Ser) c.295C>A (p.Arg99Ser) | |
| 2 | g.233768234C= | CA1335895239 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C= (p.Arg364=) c.1102C= (p.Arg368=) c.1096C= (p.Arg366=) c.1099C= (p.Arg367=) c.295C= (p.Arg99=) | |
| 2 | g.233768234C>G | CA67596167 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>G (p.Arg364Gly) c.1102C>G (p.Arg368Gly) c.1096C>G (p.Arg366Gly) c.1099C>G (p.Arg367Gly) c.295C>G (p.Arg99Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768234C>T | CA2180010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1090C>T (p.Arg364Cys) c.1102C>T (p.Arg368Cys) c.1096C>T (p.Arg366Cys) c.1099C>T (p.Arg367Cys) c.295C>T (p.Arg99Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768235G>A | CA2180011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>A (p.Arg364His) c.1103G>A (p.Arg368His) c.1097G>A (p.Arg366His) c.1100G>A (p.Arg367His) c.296G>A (p.Arg99His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768235G>C | CA351073763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>C (p.Arg364Pro) c.1103G>C (p.Arg368Pro) c.1097G>C (p.Arg366Pro) c.1100G>C (p.Arg367Pro) c.296G>C (p.Arg99Pro) | dbSNP gnomAD v4 |
| 2 | g.233768235G= | CA1335895240 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G= (p.Arg364=) c.1103G= (p.Arg368=) c.1097G= (p.Arg366=) c.1100G= (p.Arg367=) c.296G= (p.Arg99=) | |
| 2 | g.233768235G>T | CA2180012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1091G>T (p.Arg364Leu) c.1103G>T (p.Arg368Leu) c.1097G>T (p.Arg366Leu) c.1100G>T (p.Arg367Leu) c.296G>T (p.Arg99Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768236T>A | CA431858193 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>A (p.Arg364=) c.1104T>A (p.Arg368=) c.1098T>A (p.Arg366=) c.1101T>A (p.Arg367=) c.297T>A (p.Arg99=) | dbSNP |
| 2 | g.233768236T>C | CA431858190 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>C (p.Arg364=) c.1104T>C (p.Arg368=) c.1098T>C (p.Arg366=) c.1101T>C (p.Arg367=) c.297T>C (p.Arg99=) | |
| 2 | g.233768236T>G | CA431858197 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T>G (p.Arg364=) c.1104T>G (p.Arg368=) c.1098T>G (p.Arg366=) c.1101T>G (p.Arg367=) c.297T>G (p.Arg99=) | |
| 2 | g.233768236T= | CA1335895241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1092T= (p.Arg364=) c.1104T= (p.Arg368=) c.1098T= (p.Arg366=) c.1101T= (p.Arg367=) c.297T= (p.Arg99=) | |
| 2 | g.233768237G>A | CA67596183 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>A (p.Ala365Thr) c.1105G>A (p.Ala369Thr) c.1099G>A (p.Ala367Thr) c.1102G>A (p.Ala368Thr) c.298G>A (p.Ala100Thr) | dbSNP |
| 2 | g.233768237G>C | CA351073766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>C (p.Ala365Pro) c.1105G>C (p.Ala369Pro) c.1099G>C (p.Ala367Pro) c.1102G>C (p.Ala368Pro) c.298G>C (p.Ala100Pro) | |
| 2 | g.233768237G= | CA1335895242 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G= (p.Ala365=) c.1105G= (p.Ala369=) c.1099G= (p.Ala367=) c.1102G= (p.Ala368=) c.298G= (p.Ala100=) | |
| 2 | g.233768237G>T | CA351073769 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1093G>T (p.Ala365Ser) c.1105G>T (p.Ala369Ser) c.1099G>T (p.Ala367Ser) c.1102G>T (p.Ala368Ser) c.298G>T (p.Ala100Ser) | |
| 2 | g.233768238C>A | CA351073770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>A (p.Ala365Asp) c.1106C>A (p.Ala369Asp) c.1100C>A (p.Ala367Asp) c.1103C>A (p.Ala368Asp) c.299C>A (p.Ala100Asp) | |
| 2 | g.233768238C= | CA1335895243 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C= (p.Ala365=) c.1106C= (p.Ala369=) c.1100C= (p.Ala367=) c.1103C= (p.Ala368=) c.299C= (p.Ala100=) | |
| 2 | g.233768238C>G | CA351073771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>G (p.Ala365Gly) c.1106C>G (p.Ala369Gly) c.1100C>G (p.Ala367Gly) c.1103C>G (p.Ala368Gly) c.299C>G (p.Ala100Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768238C>T | CA351073773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1094C>T (p.Ala365Val) c.1106C>T (p.Ala369Val) c.1100C>T (p.Ala367Val) c.1103C>T (p.Ala368Val) c.299C>T (p.Ala100Val) | |
| 2 | g.233768239C>A | CA431858221 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>A (p.Ala365=) c.1107C>A (p.Ala369=) c.1101C>A (p.Ala367=) c.1104C>A (p.Ala368=) c.300C>A (p.Ala100=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768239C= | CA1335895244 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C= (p.Ala365=) c.1107C= (p.Ala369=) c.1101C= (p.Ala367=) c.1104C= (p.Ala368=) c.300C= (p.Ala100=) | |
| 2 | g.233768239C>G | CA431858212 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>G (p.Ala365=) c.1107C>G (p.Ala369=) c.1101C>G (p.Ala367=) c.1104C>G (p.Ala368=) c.300C>G (p.Ala100=) | |
| 2 | g.233768239C>T | CA431858217 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1095C>T (p.Ala365=) c.1107C>T (p.Ala369=) c.1101C>T (p.Ala367=) c.1104C>T (p.Ala368=) c.300C>T (p.Ala100=) | |
| 2 | g.233768240T>A | CA351073775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>A (p.Phe366Ile) c.1108T>A (p.Phe370Ile) c.1102T>A (p.Phe368Ile) c.1105T>A (p.Phe369Ile) c.301T>A (p.Phe101Ile) | |
| 2 | g.233768240T>C | CA351073778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>C (p.Phe366Leu) c.1108T>C (p.Phe370Leu) c.1102T>C (p.Phe368Leu) c.1105T>C (p.Phe369Leu) c.301T>C (p.Phe101Leu) | |
| 2 | g.233768240T>G | CA351073783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1096T>G (p.Phe366Val) c.1108T>G (p.Phe370Val) c.1102T>G (p.Phe368Val) c.1105T>G (p.Phe369Val) c.301T>G (p.Phe101Val) | |
| 2 | g.233768241T>A | CA351073786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>A (p.Phe366Tyr) c.1109T>A (p.Phe370Tyr) c.1103T>A (p.Phe368Tyr) c.1106T>A (p.Phe369Tyr) c.302T>A (p.Phe101Tyr) | |
| 2 | g.233768241T>C | CA351073787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>C (p.Phe366Ser) c.1109T>C (p.Phe370Ser) c.1103T>C (p.Phe368Ser) c.1106T>C (p.Phe369Ser) c.302T>C (p.Phe101Ser) | |
| 2 | g.233768241T>G | CA351073788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097T>G (p.Phe366Cys) c.1109T>G (p.Phe370Cys) c.1103T>G (p.Phe368Cys) c.1106T>G (p.Phe369Cys) c.302T>G (p.Phe101Cys) | |
| 2 | g.233768241_233768279delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA | CA1335895245 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1097_1135delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe366=) c.1109_1147delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe370=) c.1103_1141delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe368=) c.1106_1144delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe369=) c.302_340delinsTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCA (p.Phe101=) | |
| 2 | g.233768242T>A | CA351073789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>A (p.Phe366Leu) c.1110T>A (p.Phe370Leu) c.1104T>A (p.Phe368Leu) c.1107T>A (p.Phe369Leu) c.303T>A (p.Phe101Leu) | |
| 2 | g.233768242T>C | CA431858241 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>C (p.Phe366=) c.1110T>C (p.Phe370=) c.1104T>C (p.Phe368=) c.1107T>C (p.Phe369=) c.303T>C (p.Phe101=) | |
| 2 | g.233768242T>G | CA351073790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098T>G (p.Phe366Leu) c.1110T>G (p.Phe370Leu) c.1104T>G (p.Phe368Leu) c.1107T>G (p.Phe369Leu) c.303T>G (p.Phe101Leu) | |
| 2 | g.233768242_233768249delinsTATCACCC | CA1335895247 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1098_1105delinsTATCACCC (p.Phe366=) c.1110_1117delinsTATCACCC (p.Phe370=) c.1104_1111delinsTATCACCC (p.Phe368=) c.1107_1114delinsTATCACCC (p.Phe369=) c.303_310delinsTATCACCC (p.Phe101=) | |
| 2 | g.233768245_233768282del | CA1335895246 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1138del (p.Ile367MetfsTer14) c.1113_1150del (p.Ile371MetfsTer14) c.1107_1144del (p.Ile369MetfsTer14) c.1110_1147del (p.Ile370MetfsTer14) c.306_343del (p.Ile102MetfsTer14) | dbSNP |
| 2 | g.233768243A= | CA1335895248 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A= (p.Ile367=) c.1111A= (p.Ile371=) c.1105A= (p.Ile369=) c.1108A= (p.Ile370=) c.304A= (p.Ile102=) | |
| 2 | g.233768243A>C | CA351073792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>C (p.Ile367Leu) c.1111A>C (p.Ile371Leu) c.1105A>C (p.Ile369Leu) c.1108A>C (p.Ile370Leu) c.304A>C (p.Ile102Leu) | |
| 2 | g.233768243A>G | CA2180013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>G (p.Ile367Val) c.1111A>G (p.Ile371Val) c.1105A>G (p.Ile369Val) c.1108A>G (p.Ile370Val) c.304A>G (p.Ile102Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768243A>T | CA351073795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1099A>T (p.Ile367Phe) c.1111A>T (p.Ile371Phe) c.1105A>T (p.Ile369Phe) c.1108A>T (p.Ile370Phe) c.304A>T (p.Ile102Phe) | gnomAD v4 |
| 2 | g.233768245_233768251del | CA1043571367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1107del (p.Ile367MetfsTer18) c.1113_1119del (p.Ile371MetfsTer18) c.1107_1113del (p.Ile369MetfsTer18) c.1110_1116del (p.Ile370MetfsTer18) c.306_312del (p.Ile102MetfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768244T>A | CA351073800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>A (p.Ile367Asn) c.1112T>A (p.Ile371Asn) c.1106T>A (p.Ile369Asn) c.1109T>A (p.Ile370Asn) c.305T>A (p.Ile102Asn) | |
| 2 | g.233768244T>C | CA351073809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>C (p.Ile367Thr) c.1112T>C (p.Ile371Thr) c.1106T>C (p.Ile369Thr) c.1109T>C (p.Ile370Thr) c.305T>C (p.Ile102Thr) | |
| 2 | g.233768244T>G | CA351073810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100T>G (p.Ile367Ser) c.1112T>G (p.Ile371Ser) c.1106T>G (p.Ile369Ser) c.1109T>G (p.Ile370Ser) c.305T>G (p.Ile102Ser) | |
| 2 | g.233768244_233768285delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA | CA1335895249 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1100_1141delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile367=) c.1112_1153delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile371=) c.1106_1147delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile369=) c.1109_1150delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile370=) c.305_346delinsTCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ile102=) | |
| 2 | g.233768245C>A | CA431858259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>A (p.Ile367=) c.1113C>A (p.Ile371=) c.1107C>A (p.Ile369=) c.1110C>A (p.Ile370=) c.306C>A (p.Ile102=) | |
| 2 | g.233768245C>G | CA351073811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>G (p.Ile367Met) c.1113C>G (p.Ile371Met) c.1107C>G (p.Ile369Met) c.1110C>G (p.Ile370Met) c.306C>G (p.Ile102Met) | |
| 2 | g.233768245C>T | CA431858258 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101C>T (p.Ile367=) c.1113C>T (p.Ile371=) c.1107C>T (p.Ile369=) c.1110C>T (p.Ile370=) c.306C>T (p.Ile102=) | |
| 2 | g.233768245_233768285delinsGC | CA913189478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1101_1141delinsGC (p.Ile367_Asn381delinsMetHis) c.1113_1153delinsGC (p.Ile371_Asn385delinsMetHis) c.1107_1147delinsGC (p.Ile369_Asn383delinsMetHis) c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis) c.306_346delinsGC (p.Ile102_Asn116delinsMetHis) | ClinVar dbSNP |
| 2 | g.233768246A>C | CA351073812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>C (p.Thr368Pro) c.1114A>C (p.Thr372Pro) c.1108A>C (p.Thr370Pro) c.1111A>C (p.Thr371Pro) c.307A>C (p.Thr103Pro) | |
| 2 | g.233768246A>G | CA351073814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>G (p.Thr368Ala) c.1114A>G (p.Thr372Ala) c.1108A>G (p.Thr370Ala) c.1111A>G (p.Thr371Ala) c.307A>G (p.Thr103Ala) | |
| 2 | g.233768246A>T | CA351073816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1102A>T (p.Thr368Ser) c.1114A>T (p.Thr372Ser) c.1108A>T (p.Thr370Ser) c.1111A>T (p.Thr371Ser) c.307A>T (p.Thr103Ser) | |
| 2 | g.233768247C>A | CA351073833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>A (p.Thr368Asn) c.1115C>A (p.Thr372Asn) c.1109C>A (p.Thr370Asn) c.1112C>A (p.Thr371Asn) c.308C>A (p.Thr103Asn) | |
| 2 | g.233768247C= | CA1335895250 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C= (p.Thr368=) c.1115C= (p.Thr372=) c.1109C= (p.Thr370=) c.1112C= (p.Thr371=) c.308C= (p.Thr103=) | |
| 2 | g.233768247C>G | CA351073836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>G (p.Thr368Ser) c.1115C>G (p.Thr372Ser) c.1109C>G (p.Thr370Ser) c.1112C>G (p.Thr371Ser) c.308C>G (p.Thr103Ser) | |
| 2 | g.233768247C>T | CA351073840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1103C>T (p.Thr368Ile) c.1115C>T (p.Thr372Ile) c.1109C>T (p.Thr370Ile) c.1112C>T (p.Thr371Ile) c.308C>T (p.Thr103Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768248C>A | CA431858280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>A (p.Thr368=) c.1116C>A (p.Thr372=) c.1110C>A (p.Thr370=) c.1113C>A (p.Thr371=) c.309C>A (p.Thr103=) | gnomAD v4 |
| 2 | g.233768248C>G | CA431858291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>G (p.Thr368=) c.1116C>G (p.Thr372=) c.1110C>G (p.Thr370=) c.1113C>G (p.Thr371=) c.309C>G (p.Thr103=) | |
| 2 | g.233768248C>T | CA431858283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1104C>T (p.Thr368=) c.1116C>T (p.Thr372=) c.1110C>T (p.Thr370=) c.1113C>T (p.Thr371=) c.309C>T (p.Thr103=) | |
| 2 | g.233768249C>A | CA351073844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C>A (p.His369Asn) c.1117C>A (p.His373Asn) c.1111C>A (p.His371Asn) c.1114C>A (p.His372Asn) c.310C>A (p.His104Asn) | dbSNP |
| 2 | g.233768249C= | CA1335895251 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C= (p.His369=) c.1117C= (p.His373=) c.1111C= (p.His371=) c.1114C= (p.His372=) c.310C= (p.His104=) | |
| 2 | g.233768249C>G | CA351073845 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C>G (p.His369Asp) c.1117C>G (p.His373Asp) c.1111C>G (p.His371Asp) c.1114C>G (p.His372Asp) c.310C>G (p.His104Asp) | gnomAD v4 |
| 2 | g.233768249C>T | CA351073843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1105C>T (p.His369Tyr) c.1117C>T (p.His373Tyr) c.1111C>T (p.His371Tyr) c.1114C>T (p.His372Tyr) c.310C>T (p.His104Tyr) | dbSNP gnomAD v4 |
| 2 | g.233768250A>C | CA351073846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1106A>C (p.His369Pro) c.1118A>C (p.His373Pro) c.1112A>C (p.His371Pro) c.1115A>C (p.His372Pro) c.311A>C (p.His104Pro) | |
| 2 | g.233768250A>G | CA351073847 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1106A>G (p.His369Arg) c.1118A>G (p.His373Arg) c.1112A>G (p.His371Arg) c.1115A>G (p.His372Arg) c.311A>G (p.His104Arg) | gnomAD v4 |
| 2 | g.233768250A>T | CA351073849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1106A>T (p.His369Leu) c.1118A>T (p.His373Leu) c.1112A>T (p.His371Leu) c.1115A>T (p.His372Leu) c.311A>T (p.His104Leu) | |
| 2 | g.233768251T>A | CA351073852 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1107T>A (p.His369Gln) c.1119T>A (p.His373Gln) c.1113T>A (p.His371Gln) c.1116T>A (p.His372Gln) c.312T>A (p.His104Gln) | |
| 2 | g.233768251T>C | CA431858315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1107T>C (p.His369=) c.1119T>C (p.His373=) c.1113T>C (p.His371=) c.1116T>C (p.His372=) c.312T>C (p.His104=) | |
| 2 | g.233768251T>G | CA351073854 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1107T>G (p.His369Gln) c.1119T>G (p.His373Gln) c.1113T>G (p.His371Gln) c.1116T>G (p.His372Gln) c.312T>G (p.His104Gln) | |
| 2 | g.233768252G>A | CA351073860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1108G>A (p.Ala370Thr) c.1120G>A (p.Ala374Thr) c.1114G>A (p.Ala372Thr) c.1117G>A (p.Ala373Thr) c.313G>A (p.Ala105Thr) | |
| 2 | g.233768252G>C | CA351073857 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1108G>C (p.Ala370Pro) c.1120G>C (p.Ala374Pro) c.1114G>C (p.Ala372Pro) c.1117G>C (p.Ala373Pro) c.313G>C (p.Ala105Pro) | |
| 2 | g.233768252G>T | CA351073856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1108G>T (p.Ala370Ser) c.1120G>T (p.Ala374Ser) c.1114G>T (p.Ala372Ser) c.1117G>T (p.Ala373Ser) c.313G>T (p.Ala105Ser) | |
| 2 | g.233768253C>A | CA351073864 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1109C>A (p.Ala370Asp) c.1121C>A (p.Ala374Asp) c.1115C>A (p.Ala372Asp) c.1118C>A (p.Ala373Asp) c.314C>A (p.Ala105Asp) | |
| 2 | g.233768253C>G | CA351073865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1109C>G (p.Ala370Gly) c.1121C>G (p.Ala374Gly) c.1115C>G (p.Ala372Gly) c.1118C>G (p.Ala373Gly) c.314C>G (p.Ala105Gly) | gnomAD v4 |
| 2 | g.233768253C>T | CA351073868 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1109C>T (p.Ala370Val) c.1121C>T (p.Ala374Val) c.1115C>T (p.Ala372Val) c.1118C>T (p.Ala373Val) c.314C>T (p.Ala105Val) | |
| 2 | g.233768253_233768285delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA | CA1335895252 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1109_1141delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala370=) c.1121_1153delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala374=) c.1115_1147delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala372=) c.1118_1150delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala373=) c.314_346delinsCTGGTTCCCATGGTGTTTATGAAAGCATATGCA (p.Ala105=) | |
| 2 | g.233768254T>A | CA431858348 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1110T>A (p.Ala370=) c.1122T>A (p.Ala374=) c.1116T>A (p.Ala372=) c.1119T>A (p.Ala373=) c.315T>A (p.Ala105=) | |
| 2 | g.233768254T>C | CA431858342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1110T>C (p.Ala370=) c.1122T>C (p.Ala374=) c.1116T>C (p.Ala372=) c.1119T>C (p.Ala373=) c.315T>C (p.Ala105=) | |
| 2 | g.233768254T>G | CA431858345 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1110T>G (p.Ala370=) c.1122T>G (p.Ala374=) c.1116T>G (p.Ala372=) c.1119T>G (p.Ala373=) c.315T>G (p.Ala105=) | |
| 2 | g.233768254_233768285del | CA1043571376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1110_1141del (p.Gly371TrpfsTer12) c.1122_1153del (p.Gly375TrpfsTer12) c.1116_1147del (p.Gly373TrpfsTer12) c.1119_1150del (p.Gly374TrpfsTer12) c.315_346del (p.Gly106TrpfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768255G>A | CA351073871 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1111G>A (p.Gly371Ser) c.1123G>A (p.Gly375Ser) c.1117G>A (p.Gly373Ser) c.1120G>A (p.Gly374Ser) c.316G>A (p.Gly106Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233768255G>C | CA351073878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1111G>C (p.Gly371Arg) c.1123G>C (p.Gly375Arg) c.1117G>C (p.Gly373Arg) c.1120G>C (p.Gly374Arg) c.316G>C (p.Gly106Arg) | gnomAD v4 |
| 2 | g.233768255G= | CA1335895253 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1111G= (p.Gly371=) c.1123G= (p.Gly375=) c.1117G= (p.Gly373=) c.1120G= (p.Gly374=) c.316G= (p.Gly106=) | |
| 2 | g.233768255G>T | CA351073881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1111G>T (p.Gly371Cys) c.1123G>T (p.Gly375Cys) c.1117G>T (p.Gly373Cys) c.1120G>T (p.Gly374Cys) c.316G>T (p.Gly106Cys) | |
| 2 | g.233768256G>A | CA351073883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1112G>A (p.Gly371Asp) c.1124G>A (p.Gly375Asp) c.1118G>A (p.Gly373Asp) c.1121G>A (p.Gly374Asp) c.317G>A (p.Gly106Asp) | gnomAD v4 |
| 2 | g.233768256G>C | CA351073887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1112G>C (p.Gly371Ala) c.1124G>C (p.Gly375Ala) c.1118G>C (p.Gly373Ala) c.1121G>C (p.Gly374Ala) c.317G>C (p.Gly106Ala) | |
| 2 | g.233768256G>T | CA351073885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1112G>T (p.Gly371Val) c.1124G>T (p.Gly375Val) c.1118G>T (p.Gly373Val) c.1121G>T (p.Gly374Val) c.317G>T (p.Gly106Val) | |
| 2 | g.233768268_233768302dup | CA1043571392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124_1158dup (p.Met387PhefsTer12) c.1136_1170dup (p.Met391PhefsTer12) c.1130_1164dup (p.Met389PhefsTer12) c.1133_1167dup (p.Met390PhefsTer12) c.329_363dup (p.Met122PhefsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768257T>A | CA431858386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1113T>A (p.Gly371=) c.1125T>A (p.Gly375=) c.1119T>A (p.Gly373=) c.1122T>A (p.Gly374=) c.318T>A (p.Gly106=) | |
| 2 | g.233768257T>C | CA245117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1113T>C (p.Gly371=) c.1125T>C (p.Gly375=) c.1119T>C (p.Gly373=) c.1122T>C (p.Gly374=) c.318T>C (p.Gly106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768257T>G | CA431858381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1113T>G (p.Gly371=) c.1125T>G (p.Gly375=) c.1119T>G (p.Gly373=) c.1122T>G (p.Gly374=) c.318T>G (p.Gly106=) | |
| 2 | g.233768257T= | CA1335895254 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1113T= (p.Gly371=) c.1125T= (p.Gly375=) c.1119T= (p.Gly373=) c.1122T= (p.Gly374=) c.318T= (p.Gly106=) | |
| 2 | g.233768258T>A | CA351073892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1114T>A (p.Ser372Thr) c.1126T>A (p.Ser376Thr) c.1120T>A (p.Ser374Thr) c.1123T>A (p.Ser375Thr) c.319T>A (p.Ser107Thr) | |
| 2 | g.233768258T>C | CA351073905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1114T>C (p.Ser372Pro) c.1126T>C (p.Ser376Pro) c.1120T>C (p.Ser374Pro) c.1123T>C (p.Ser375Pro) c.319T>C (p.Ser107Pro) | gnomAD v4 |
| 2 | g.233768258T>G | CA351073908 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1114T>G (p.Ser372Ala) c.1126T>G (p.Ser376Ala) c.1120T>G (p.Ser374Ala) c.1123T>G (p.Ser375Ala) c.319T>G (p.Ser107Ala) | |
| 2 | g.233768259C>A | CA351073910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>A (p.Ser372Tyr) c.1127C>A (p.Ser376Tyr) c.1121C>A (p.Ser374Tyr) c.1124C>A (p.Ser375Tyr) c.320C>A (p.Ser107Tyr) | |
| 2 | g.233768259C= | CA1335895255 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C= (p.Ser372=) c.1127C= (p.Ser376=) c.1121C= (p.Ser374=) c.1124C= (p.Ser375=) c.320C= (p.Ser107=) | |
| 2 | g.233768259C>G | CA351073915 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>G (p.Ser372Cys) c.1127C>G (p.Ser376Cys) c.1121C>G (p.Ser374Cys) c.1124C>G (p.Ser375Cys) c.320C>G (p.Ser107Cys) | |
| 2 | g.233768259C>T | CA122007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>T (p.Ser372Phe) c.1127C>T (p.Ser376Phe) c.1121C>T (p.Ser374Phe) c.1124C>T (p.Ser375Phe) c.320C>T (p.Ser107Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768260C>A | CA431858408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>A (p.Ser372=) c.1128C>A (p.Ser376=) c.1122C>A (p.Ser374=) c.1125C>A (p.Ser375=) c.321C>A (p.Ser107=) | |
| 2 | g.233768260C>G | CA431858405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>G (p.Ser372=) c.1128C>G (p.Ser376=) c.1122C>G (p.Ser374=) c.1125C>G (p.Ser375=) c.321C>G (p.Ser107=) | |
| 2 | g.233768260C>T | CA431858402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1116C>T (p.Ser372=) c.1128C>T (p.Ser376=) c.1122C>T (p.Ser374=) c.1125C>T (p.Ser375=) c.321C>T (p.Ser107=) | gnomAD v4 |
| 2 | g.233768261C>A | CA351073923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>A (p.His373Asn) c.1129C>A (p.His377Asn) c.1123C>A (p.His375Asn) c.1126C>A (p.His376Asn) c.322C>A (p.His108Asn) | |
| 2 | g.233768261C>G | CA351073924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>G (p.His373Asp) c.1129C>G (p.His377Asp) c.1123C>G (p.His375Asp) c.1126C>G (p.His376Asp) c.322C>G (p.His108Asp) | |
| 2 | g.233768261C>T | CA351073925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1117C>T (p.His373Tyr) c.1129C>T (p.His377Tyr) c.1123C>T (p.His375Tyr) c.1126C>T (p.His376Tyr) c.322C>T (p.His108Tyr) | gnomAD v4 |
| 2 | g.233768262A= | CA1335895256 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A= (p.His373=) c.1130A= (p.His377=) c.1124A= (p.His375=) c.1127A= (p.His376=) c.323A= (p.His108=) | |
| 2 | g.233768262A>C | CA351073928 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>C (p.His373Pro) c.1130A>C (p.His377Pro) c.1124A>C (p.His375Pro) c.1127A>C (p.His376Pro) c.323A>C (p.His108Pro) | |
| 2 | g.233768262A>G | CA351073930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>G (p.His373Arg) c.1130A>G (p.His377Arg) c.1124A>G (p.His375Arg) c.1127A>G (p.His376Arg) c.323A>G (p.His108Arg) | dbSNP gnomAD v4 |
| 2 | g.233768262A>T | CA351073933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1118A>T (p.His373Leu) c.1130A>T (p.His377Leu) c.1124A>T (p.His375Leu) c.1127A>T (p.His376Leu) c.323A>T (p.His108Leu) | |
| 2 | g.233768263T>A | CA351073939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>A (p.His373Gln) c.1131T>A (p.His377Gln) c.1125T>A (p.His375Gln) c.1128T>A (p.His376Gln) c.324T>A (p.His108Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768263T>C | CA431858432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>C (p.His373=) c.1131T>C (p.His377=) c.1125T>C (p.His375=) c.1128T>C (p.His376=) c.324T>C (p.His108=) | dbSNP gnomAD v4 |
| 2 | g.233768263T>G | CA351073936 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T>G (p.His373Gln) c.1131T>G (p.His377Gln) c.1125T>G (p.His375Gln) c.1128T>G (p.His376Gln) c.324T>G (p.His108Gln) | |
| 2 | g.233768263T= | CA1335895257 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1119T= (p.His373=) c.1131T= (p.His377=) c.1125T= (p.His375=) c.1128T= (p.His376=) c.324T= (p.His108=) | |
| 2 | g.233768264G>A | CA2180014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>A (p.Gly374Ser) c.1132G>A (p.Gly378Ser) c.1126G>A (p.Gly376Ser) c.1129G>A (p.Gly377Ser) c.325G>A (p.Gly109Ser) | dbSNP ExAC gnomAD v2 |
| 2 | g.233768264G>C | CA351073958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>C (p.Gly374Arg) c.1132G>C (p.Gly378Arg) c.1126G>C (p.Gly376Arg) c.1129G>C (p.Gly377Arg) c.325G>C (p.Gly109Arg) | |
| 2 | g.233768264G= | CA1335895258 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G= (p.Gly374=) c.1132G= (p.Gly378=) c.1126G= (p.Gly376=) c.1129G= (p.Gly377=) c.325G= (p.Gly109=) | |
| 2 | g.233768264G>T | CA351073953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1120G>T (p.Gly374Cys) c.1132G>T (p.Gly378Cys) c.1126G>T (p.Gly376Cys) c.1129G>T (p.Gly377Cys) c.325G>T (p.Gly109Cys) | |
| 2 | g.233768265G>A | CA351073962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>A (p.Gly374Asp) c.1133G>A (p.Gly378Asp) c.1127G>A (p.Gly376Asp) c.1130G>A (p.Gly377Asp) c.326G>A (p.Gly109Asp) | |
| 2 | g.233768265G>C | CA351073969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>C (p.Gly374Ala) c.1133G>C (p.Gly378Ala) c.1127G>C (p.Gly376Ala) c.1130G>C (p.Gly377Ala) c.326G>C (p.Gly109Ala) | |
| 2 | g.233768265G= | CA1335895259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G= (p.Gly374=) c.1133G= (p.Gly378=) c.1127G= (p.Gly376=) c.1130G= (p.Gly377=) c.326G= (p.Gly109=) | |
| 2 | g.233768265G>T | CA351073967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1121G>T (p.Gly374Val) c.1133G>T (p.Gly378Val) c.1127G>T (p.Gly376Val) c.1130G>T (p.Gly377Val) c.326G>T (p.Gly109Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768266T>A | CA431858457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>A (p.Gly374=) c.1134T>A (p.Gly378=) c.1128T>A (p.Gly376=) c.1131T>A (p.Gly377=) c.327T>A (p.Gly109=) | |
| 2 | g.233768266T>C | CA2180015 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>C (p.Gly374=) c.1134T>C (p.Gly378=) c.1128T>C (p.Gly376=) c.1131T>C (p.Gly377=) c.327T>C (p.Gly109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233768266T>G | CA431858460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T>G (p.Gly374=) c.1134T>G (p.Gly378=) c.1128T>G (p.Gly376=) c.1131T>G (p.Gly377=) c.327T>G (p.Gly109=) | |
| 2 | g.233768266T= | CA1335895260 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1122T= (p.Gly374=) c.1134T= (p.Gly378=) c.1128T= (p.Gly376=) c.1131T= (p.Gly377=) c.327T= (p.Gly109=) | |
| 2 | g.233768267G>A | CA351073972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>A (p.Val375Ile) c.1135G>A (p.Val379Ile) c.1129G>A (p.Val377Ile) c.1132G>A (p.Val378Ile) c.328G>A (p.Val110Ile) | |
| 2 | g.233768267G>C | CA351073973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>C (p.Val375Leu) c.1135G>C (p.Val379Leu) c.1129G>C (p.Val377Leu) c.1132G>C (p.Val378Leu) c.328G>C (p.Val110Leu) | |
| 2 | g.233768267G>T | CA351073974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1123G>T (p.Val375Phe) c.1135G>T (p.Val379Phe) c.1129G>T (p.Val377Phe) c.1132G>T (p.Val378Phe) c.328G>T (p.Val110Phe) | |
| 2 | g.233768268T>A | CA351073976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>A (p.Val375Asp) c.1136T>A (p.Val379Asp) c.1130T>A (p.Val377Asp) c.1133T>A (p.Val378Asp) c.329T>A (p.Val110Asp) | gnomAD v4 |
| 2 | g.233768268T>C | CA351073980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>C (p.Val375Ala) c.1136T>C (p.Val379Ala) c.1130T>C (p.Val377Ala) c.1133T>C (p.Val378Ala) c.329T>C (p.Val110Ala) | |
| 2 | g.233768268T>G | CA351073982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1124T>G (p.Val375Gly) c.1136T>G (p.Val379Gly) c.1130T>G (p.Val377Gly) c.1133T>G (p.Val378Gly) c.329T>G (p.Val110Gly) | |
| 2 | g.233768270del | CA2663717384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126del (p.Tyr376MetfsTer11) c.1138del (p.Tyr380MetfsTer11) c.1132del (p.Tyr378MetfsTer11) c.1135del (p.Tyr379MetfsTer11) c.331del (p.Tyr111MetfsTer11) | gnomAD v4 |
| 2 | g.233768269T>A | CA431858498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>A (p.Val375=) c.1137T>A (p.Val379=) c.1131T>A (p.Val377=) c.1134T>A (p.Val378=) c.330T>A (p.Val110=) | |
| 2 | g.233768269T>C | CA431858492 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>C (p.Val375=) c.1137T>C (p.Val379=) c.1131T>C (p.Val377=) c.1134T>C (p.Val378=) c.330T>C (p.Val110=) | |
| 2 | g.233768269T>G | CA431858496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1125T>G (p.Val375=) c.1137T>G (p.Val379=) c.1131T>G (p.Val377=) c.1134T>G (p.Val378=) c.330T>G (p.Val110=) | |
| 2 | g.233768270T>A | CA351073985 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>A (p.Tyr376Asn) c.1138T>A (p.Tyr380Asn) c.1132T>A (p.Tyr378Asn) c.1135T>A (p.Tyr379Asn) c.331T>A (p.Tyr111Asn) | |
| 2 | g.233768270T>C | CA351073988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>C (p.Tyr376His) c.1138T>C (p.Tyr380His) c.1132T>C (p.Tyr378His) c.1135T>C (p.Tyr379His) c.331T>C (p.Tyr111His) | |
| 2 | g.233768270T>G | CA351073990 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1126T>G (p.Tyr376Asp) c.1138T>G (p.Tyr380Asp) c.1132T>G (p.Tyr378Asp) c.1135T>G (p.Tyr379Asp) c.331T>G (p.Tyr111Asp) | |
| 2 | g.233768271A>C | CA351074001 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1127A>C (p.Tyr376Ser) c.1139A>C (p.Tyr380Ser) c.1133A>C (p.Tyr378Ser) c.1136A>C (p.Tyr379Ser) c.332A>C (p.Tyr111Ser) | |
| 2 | g.233768271A>G | CA351073993 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1127A>G (p.Tyr376Cys) c.1139A>G (p.Tyr380Cys) c.1133A>G (p.Tyr378Cys) c.1136A>G (p.Tyr379Cys) c.332A>G (p.Tyr111Cys) | |
| 2 | g.233768271A>T | CA351073997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1127A>T (p.Tyr376Phe) c.1139A>T (p.Tyr380Phe) c.1133A>T (p.Tyr378Phe) c.1136A>T (p.Tyr379Phe) c.332A>T (p.Tyr111Phe) | |
| 2 | g.233768272T>A | CA351074003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1128T>A (p.Tyr376Ter) c.1140T>A (p.Tyr380Ter) c.1134T>A (p.Tyr378Ter) c.1137T>A (p.Tyr379Ter) c.333T>A (p.Tyr111Ter) | |
| 2 | g.233768272T>C | CA431858520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1128T>C (p.Tyr376=) c.1140T>C (p.Tyr380=) c.1134T>C (p.Tyr378=) c.1137T>C (p.Tyr379=) c.333T>C (p.Tyr111=) | gnomAD v4 |
| 2 | g.233768272T>G | CA351074006 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1128T>G (p.Tyr376Ter) c.1140T>G (p.Tyr380Ter) c.1134T>G (p.Tyr378Ter) c.1137T>G (p.Tyr379Ter) c.333T>G (p.Tyr111Ter) | |
| 2 | g.233768273G>A | CA351074010 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1129G>A (p.Glu377Lys) c.1141G>A (p.Glu381Lys) c.1135G>A (p.Glu379Lys) c.1138G>A (p.Glu380Lys) c.334G>A (p.Glu112Lys) | |
| 2 | g.233768273G>C | CA351074012 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1129G>C (p.Glu377Gln) c.1141G>C (p.Glu381Gln) c.1135G>C (p.Glu379Gln) c.1138G>C (p.Glu380Gln) c.334G>C (p.Glu112Gln) | |
| 2 | g.233768273G>T | CA351074016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1129G>T (p.Glu377Ter) c.1141G>T (p.Glu381Ter) c.1135G>T (p.Glu379Ter) c.1138G>T (p.Glu380Ter) c.334G>T (p.Glu112Ter) | |
| 2 | g.233768274A= | CA1335895261 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1130A= (p.Glu377=) c.1142A= (p.Glu381=) c.1136A= (p.Glu379=) c.1139A= (p.Glu380=) c.335A= (p.Glu112=) | |
| 2 | g.233768274A>C | CA351074018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1130A>C (p.Glu377Ala) c.1142A>C (p.Glu381Ala) c.1136A>C (p.Glu379Ala) c.1139A>C (p.Glu380Ala) c.335A>C (p.Glu112Ala) | |
| 2 | g.233768274A>G | CA351074019 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1130A>G (p.Glu377Gly) c.1142A>G (p.Glu381Gly) c.1136A>G (p.Glu379Gly) c.1139A>G (p.Glu380Gly) c.335A>G (p.Glu112Gly) | dbSNP |
| 2 | g.233768274A>T | CA351074021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1130A>T (p.Glu377Val) c.1142A>T (p.Glu381Val) c.1136A>T (p.Glu379Val) c.1139A>T (p.Glu380Val) c.335A>T (p.Glu112Val) | |
| 2 | g.233768275A>C | CA351074025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1131A>C (p.Glu377Asp) c.1143A>C (p.Glu381Asp) c.1137A>C (p.Glu379Asp) c.1140A>C (p.Glu380Asp) c.336A>C (p.Glu112Asp) | |
| 2 | g.233768275A>G | CA431858546 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1131A>G (p.Glu377=) c.1143A>G (p.Glu381=) c.1137A>G (p.Glu379=) c.1140A>G (p.Glu380=) c.336A>G (p.Glu112=) | |
| 2 | g.233768275A>T | CA351074028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1131A>T (p.Glu377Asp) c.1143A>T (p.Glu381Asp) c.1137A>T (p.Glu379Asp) c.1140A>T (p.Glu380Asp) c.336A>T (p.Glu112Asp) | |
| 2 | g.233768276A= | CA1335895262 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1132A= (p.Ser378=) c.1144A= (p.Ser382=) c.1138A= (p.Ser380=) c.1141A= (p.Ser381=) c.337A= (p.Ser113=) | |
| 2 | g.233768276A>C | CA351074031 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1132A>C (p.Ser378Arg) c.1144A>C (p.Ser382Arg) c.1138A>C (p.Ser380Arg) c.1141A>C (p.Ser381Arg) c.337A>C (p.Ser113Arg) | |
| 2 | g.233768276A>G | CA351074033 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1132A>G (p.Ser378Gly) c.1144A>G (p.Ser382Gly) c.1138A>G (p.Ser380Gly) c.1141A>G (p.Ser381Gly) c.337A>G (p.Ser113Gly) | |
| 2 | g.233768276A>T | CA2180016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1132A>T (p.Ser378Cys) c.1144A>T (p.Ser382Cys) c.1138A>T (p.Ser380Cys) c.1141A>T (p.Ser381Cys) c.337A>T (p.Ser113Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768277G>A | CA351074035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1133G>A (p.Ser378Asn) c.1145G>A (p.Ser382Asn) c.1139G>A (p.Ser380Asn) c.1142G>A (p.Ser381Asn) c.338G>A (p.Ser113Asn) | |
| 2 | g.233768277G>C | CA351074037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1133G>C (p.Ser378Thr) c.1145G>C (p.Ser382Thr) c.1139G>C (p.Ser380Thr) c.1142G>C (p.Ser381Thr) c.338G>C (p.Ser113Thr) | |
| 2 | g.233768277G>T | CA351074044 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1133G>T (p.Ser378Ile) c.1145G>T (p.Ser382Ile) c.1139G>T (p.Ser380Ile) c.1142G>T (p.Ser381Ile) c.338G>T (p.Ser113Ile) | |
| 2 | g.233768278C>A | CA351074051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1134C>A (p.Ser378Arg) c.1146C>A (p.Ser382Arg) c.1140C>A (p.Ser380Arg) c.1143C>A (p.Ser381Arg) c.339C>A (p.Ser113Arg) | |
| 2 | g.233768278C= | CA1335895263 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1134C= (p.Ser378=) c.1146C= (p.Ser382=) c.1140C= (p.Ser380=) c.1143C= (p.Ser381=) c.339C= (p.Ser113=) | |
| 2 | g.233768278C>G | CA67596254 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1134C>G (p.Ser378Arg) c.1146C>G (p.Ser382Arg) c.1140C>G (p.Ser380Arg) c.1143C>G (p.Ser381Arg) c.339C>G (p.Ser113Arg) | dbSNP |
| 2 | g.233768278C>T | CA431858582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1134C>T (p.Ser378=) c.1146C>T (p.Ser382=) c.1140C>T (p.Ser380=) c.1143C>T (p.Ser381=) c.339C>T (p.Ser113=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233768279A>C | CA351074058 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1135A>C (p.Ile379Leu) c.1147A>C (p.Ile383Leu) c.1141A>C (p.Ile381Leu) c.1144A>C (p.Ile382Leu) c.340A>C (p.Ile114Leu) | |
| 2 | g.233768279A>G | CA351074068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1135A>G (p.Ile379Val) c.1147A>G (p.Ile383Val) c.1141A>G (p.Ile381Val) c.1144A>G (p.Ile382Val) c.340A>G (p.Ile114Val) | |
| 2 | g.233768279A>T | CA351074070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1135A>T (p.Ile379Leu) c.1147A>T (p.Ile383Leu) c.1141A>T (p.Ile381Leu) c.1144A>T (p.Ile382Leu) c.340A>T (p.Ile114Leu) | |
| 2 | g.233768280T>A | CA351074071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1136T>A (p.Ile379Lys) c.1148T>A (p.Ile383Lys) c.1142T>A (p.Ile381Lys) c.1145T>A (p.Ile382Lys) c.341T>A (p.Ile114Lys) | |
| 2 | g.233768280T>C | CA351074072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1136T>C (p.Ile379Thr) c.1148T>C (p.Ile383Thr) c.1142T>C (p.Ile381Thr) c.1145T>C (p.Ile382Thr) c.341T>C (p.Ile114Thr) | |
| 2 | g.233768280T>G | CA351074073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1136T>G (p.Ile379Arg) c.1148T>G (p.Ile383Arg) c.1142T>G (p.Ile381Arg) c.1145T>G (p.Ile382Arg) c.341T>G (p.Ile114Arg) | |
| 2 | g.233768281A>C | CA431858613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1137A>C (p.Ile379=) c.1149A>C (p.Ile383=) c.1143A>C (p.Ile381=) c.1146A>C (p.Ile382=) c.342A>C (p.Ile114=) | |
| 2 | g.233768281A>G | CA351074075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1137A>G (p.Ile379Met) c.1149A>G (p.Ile383Met) c.1143A>G (p.Ile381Met) c.1146A>G (p.Ile382Met) c.342A>G (p.Ile114Met) | |
| 2 | g.233768281A>T | CA431858607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1137A>T (p.Ile379=) c.1149A>T (p.Ile383=) c.1143A>T (p.Ile381=) c.1146A>T (p.Ile382=) c.342A>T (p.Ile114=) | |
| 2 | g.233768282T>A | CA351074080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1138T>A (p.Cys380Ser) c.1150T>A (p.Cys384Ser) c.1144T>A (p.Cys382Ser) c.1147T>A (p.Cys383Ser) c.343T>A (p.Cys115Ser) | |
| 2 | g.233768282T>C | CA351074078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1138T>C (p.Cys380Arg) c.1150T>C (p.Cys384Arg) c.1144T>C (p.Cys382Arg) c.1147T>C (p.Cys383Arg) c.343T>C (p.Cys115Arg) | |
| 2 | g.233768282T>G | CA351074079 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1138T>G (p.Cys380Gly) c.1150T>G (p.Cys384Gly) c.1144T>G (p.Cys382Gly) c.1147T>G (p.Cys383Gly) c.343T>G (p.Cys115Gly) |