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.233767818_233767821del | CA2179951 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-31_988-28del (n.988-31_988-28del) c.1000-31_1000-28del (n.1000-31_1000-28del) c.994-31_994-28del (n.994-31_994-28del) c.997-31_997-28del (n.997-31_997-28del) c.193-31_193-28del (n.193-31_193-28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767822A= | CA1335895047 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-27A= (n.988-27A=) c.1000-27A= (n.1000-27A=) c.994-27A= (n.994-27A=) c.997-27A= (n.997-27A=) c.193-27A= (n.193-27A=) | |
| 2 | g.233767822A>T | CA2179957 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-27A>T (n.988-27A>T) c.1000-27A>T (n.1000-27A>T) c.994-27A>T (n.994-27A>T) c.997-27A>T (n.997-27A>T) c.193-27A>T (n.193-27A>T) | dbSNP ExAC gnomAD v2 |
| 2 | g.233767822_233767824delinsACG | CA1335895046 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-27_988-25delinsACG (n.988-27_988-25delinsACG) c.1000-27_1000-25delinsACG (n.1000-27_1000-25delinsACG) c.994-27_994-25delinsACG (n.994-27_994-25delinsACG) c.997-27_997-25delinsACG (n.997-27_997-25delinsACG) c.193-27_193-25delinsACG (n.193-27_193-25delinsACG) | |
| 2 | g.233767823C= | CA1335895048 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-26C= (n.988-26C=) c.1000-26C= (n.1000-26C=) c.994-26C= (n.994-26C=) c.997-26C= (n.997-26C=) c.193-26C= (n.193-26C=) | |
| 2 | g.233767823C>G | CA1335895049 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-26C>G (n.988-26C>G) c.1000-26C>G (n.1000-26C>G) c.994-26C>G (n.994-26C>G) c.997-26C>G (n.997-26C>G) c.193-26C>G (n.193-26C>G) | dbSNP |
| 2 | g.233767823C>T | CA2179959 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-26C>T (n.988-26C>T) c.1000-26C>T (n.1000-26C>T) c.994-26C>T (n.994-26C>T) c.997-26C>T (n.997-26C>T) c.193-26C>T (n.193-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767823_233767824del | CA2179958 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-26_988-25del (n.988-26_988-25del) c.1000-26_1000-25del (n.1000-26_1000-25del) c.994-26_994-25del (n.994-26_994-25del) c.997-26_997-25del (n.997-26_997-25del) c.193-26_193-25del (n.193-26_193-25del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767824G>A | CA2179960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-25G>A (n.988-25G>A) c.1000-25G>A (n.1000-25G>A) c.994-25G>A (n.994-25G>A) c.997-25G>A (n.997-25G>A) c.193-25G>A (n.193-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767824G>C | CA1335895051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-25G>C (n.988-25G>C) c.1000-25G>C (n.1000-25G>C) c.994-25G>C (n.994-25G>C) c.997-25G>C (n.997-25G>C) c.193-25G>C (n.193-25G>C) | dbSNP |
| 2 | g.233767824G= | CA1335895050 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-25G= (n.988-25G=) c.1000-25G= (n.1000-25G=) c.994-25G= (n.994-25G=) c.997-25G= (n.997-25G=) c.193-25G= (n.193-25G=) | |
| 2 | g.233767826T>C | CA540311595 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-23T>C (n.988-23T>C) c.1000-23T>C (n.1000-23T>C) c.994-23T>C (n.994-23T>C) c.997-23T>C (n.997-23T>C) c.193-23T>C (n.193-23T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767826T= | CA1335895052 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-23T= (n.988-23T=) c.1000-23T= (n.1000-23T=) c.994-23T= (n.994-23T=) c.997-23T= (n.997-23T=) c.193-23T= (n.193-23T=) | |
| 2 | g.233767827C= | CA1335895053 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-22C= (n.988-22C=) c.1000-22C= (n.1000-22C=) c.994-22C= (n.994-22C=) c.997-22C= (n.997-22C=) c.193-22C= (n.193-22C=) | |
| 2 | g.233767827C>G | CA2663717126 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-22C>G (n.988-22C>G) c.1000-22C>G (n.1000-22C>G) c.994-22C>G (n.994-22C>G) c.997-22C>G (n.997-22C>G) c.193-22C>G (n.193-22C>G) | gnomAD v4 |
| 2 | g.233767827C>T | CA766291038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-22C>T (n.988-22C>T) c.1000-22C>T (n.1000-22C>T) c.994-22C>T (n.994-22C>T) c.997-22C>T (n.997-22C>T) c.193-22C>T (n.193-22C>T) | dbSNP gnomAD v4 |
| 2 | g.233767829G>A | CA2663717128 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-20G>A (n.988-20G>A) c.1000-20G>A (n.1000-20G>A) c.994-20G>A (n.994-20G>A) c.997-20G>A (n.997-20G>A) c.193-20G>A (n.193-20G>A) | gnomAD v4 |
| 2 | g.233767829G>T | CA2577284425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-20G>T (n.988-20G>T) c.1000-20G>T (n.1000-20G>T) c.994-20G>T (n.994-20G>T) c.997-20G>T (n.997-20G>T) c.193-20G>T (n.193-20G>T) | |
| 2 | g.233767830C>A | CA2663717129 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-19C>A (n.988-19C>A) c.1000-19C>A (n.1000-19C>A) c.994-19C>A (n.994-19C>A) c.997-19C>A (n.997-19C>A) c.193-19C>A (n.193-19C>A) | gnomAD v4 |
| 2 | g.233767832C= | CA1335895054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-17C= (n.988-17C=) c.1000-17C= (n.1000-17C=) c.994-17C= (n.994-17C=) c.997-17C= (n.997-17C=) c.193-17C= (n.193-17C=) | |
| 2 | g.233767832C>G | CA1335895055 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-17C>G (n.988-17C>G) c.1000-17C>G (n.1000-17C>G) c.994-17C>G (n.994-17C>G) c.997-17C>G (n.997-17C>G) c.193-17C>G (n.193-17C>G) | dbSNP |
| 2 | g.233767833T>A | CA1335895057 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-16T>A (n.988-16T>A) c.1000-16T>A (n.1000-16T>A) c.994-16T>A (n.994-16T>A) c.997-16T>A (n.997-16T>A) c.193-16T>A (n.193-16T>A) | dbSNP |
| 2 | g.233767833T>C | CA2663717131 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-16T>C (n.988-16T>C) c.1000-16T>C (n.1000-16T>C) c.994-16T>C (n.994-16T>C) c.997-16T>C (n.997-16T>C) c.193-16T>C (n.193-16T>C) | gnomAD v4 |
| 2 | g.233767833T= | CA1335895056 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-16T= (n.988-16T=) c.1000-16T= (n.1000-16T=) c.994-16T= (n.994-16T=) c.997-16T= (n.997-16T=) c.193-16T= (n.193-16T=) | |
| 2 | g.233767835T>C | CA2663717133 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-14T>C (n.988-14T>C) c.1000-14T>C (n.1000-14T>C) c.994-14T>C (n.994-14T>C) c.997-14T>C (n.997-14T>C) c.193-14T>C (n.193-14T>C) | gnomAD v4 |
| 2 | g.233767838G>C | CA1335895059 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-11G>C (n.988-11G>C) c.1000-11G>C (n.1000-11G>C) c.994-11G>C (n.994-11G>C) c.997-11G>C (n.997-11G>C) c.193-11G>C (n.193-11G>C) | dbSNP |
| 2 | g.233767838G= | CA1335895058 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-11G= (n.988-11G=) c.1000-11G= (n.1000-11G=) c.994-11G= (n.994-11G=) c.997-11G= (n.997-11G=) c.193-11G= (n.193-11G=) | |
| 2 | g.233767839C>A | CA2663717137 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-10C>A (n.988-10C>A) c.1000-10C>A (n.1000-10C>A) c.994-10C>A (n.994-10C>A) c.997-10C>A (n.997-10C>A) c.193-10C>A (n.193-10C>A) | gnomAD v4 |
| 2 | g.233767839C>G | CA2577284426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-10C>G (n.988-10C>G) c.1000-10C>G (n.1000-10C>G) c.994-10C>G (n.994-10C>G) c.997-10C>G (n.997-10C>G) c.193-10C>G (n.193-10C>G) | |
| 2 | g.233767839C>T | CA2663717135 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-10C>T (n.988-10C>T) c.1000-10C>T (n.1000-10C>T) c.994-10C>T (n.994-10C>T) c.997-10C>T (n.997-10C>T) c.193-10C>T (n.193-10C>T) | gnomAD v4 |
| 2 | g.233767840C= | CA1335895060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-9C= (n.988-9C=) c.1000-9C= (n.1000-9C=) c.994-9C= (n.994-9C=) c.997-9C= (n.997-9C=) c.193-9C= (n.193-9C=) | |
| 2 | g.233767840C>T | CA1335895061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-9C>T (n.988-9C>T) c.1000-9C>T (n.1000-9C>T) c.994-9C>T (n.994-9C>T) c.997-9C>T (n.997-9C>T) c.193-9C>T (n.193-9C>T) | dbSNP gnomAD v4 |
| 2 | g.233767841C= | CA1335895062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-8C= (n.988-8C=) c.1000-8C= (n.1000-8C=) c.994-8C= (n.994-8C=) c.997-8C= (n.997-8C=) c.193-8C= (n.193-8C=) | |
| 2 | g.233767841C>T | CA1335895063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-8C>T (n.988-8C>T) c.1000-8C>T (n.1000-8C>T) c.994-8C>T (n.994-8C>T) c.997-8C>T (n.997-8C>T) c.193-8C>T (n.193-8C>T) | dbSNP |
| 2 | g.233767844C= | CA1335895064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-5C= (n.988-5C=) c.1000-5C= (n.1000-5C=) c.994-5C= (n.994-5C=) c.997-5C= (n.997-5C=) c.193-5C= (n.193-5C=) | |
| 2 | g.233767844C>G | CA766291041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-5C>G (n.988-5C>G) c.1000-5C>G (n.1000-5C>G) c.994-5C>G (n.994-5C>G) c.997-5C>G (n.997-5C>G) c.193-5C>G (n.193-5C>G) | dbSNP |
| 2 | g.233767844C>T | CA2577284427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-5C>T (n.988-5C>T) c.1000-5C>T (n.1000-5C>T) c.994-5C>T (n.994-5C>T) c.997-5C>T (n.997-5C>T) c.193-5C>T (n.193-5C>T) | |
| 2 | g.233767845C>T | CA2754693424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-4C>T (n.988-4C>T) c.1000-4C>T (n.1000-4C>T) c.994-4C>T (n.994-4C>T) c.997-4C>T (n.997-4C>T) c.193-4C>T (n.193-4C>T) | |
| 2 | g.233767846C= | CA1335895065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-3C= (n.988-3C=) c.1000-3C= (n.1000-3C=) c.994-3C= (n.994-3C=) c.997-3C= (n.997-3C=) c.193-3C= (n.193-3C=) | |
| 2 | g.233767846C>G | CA1043571179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-3C>G (n.988-3C>G) c.1000-3C>G (n.1000-3C>G) c.994-3C>G (n.994-3C>G) c.997-3C>G (n.997-3C>G) c.193-3C>G (n.193-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767847A>C | CA351072661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-2A>C (n.988-2A>C) c.1000-2A>C (n.1000-2A>C) c.994-2A>C (n.994-2A>C) c.997-2A>C (n.997-2A>C) c.193-2A>C (n.193-2A>C) | |
| 2 | g.233767847A>G | CA351072666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-2A>G (n.988-2A>G) c.1000-2A>G (n.1000-2A>G) c.994-2A>G (n.994-2A>G) c.997-2A>G (n.997-2A>G) c.193-2A>G (n.193-2A>G) | |
| 2 | g.233767847A>T | CA351072675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-2A>T (n.988-2A>T) c.1000-2A>T (n.1000-2A>T) c.994-2A>T (n.994-2A>T) c.997-2A>T (n.997-2A>T) c.193-2A>T (n.193-2A>T) | |
| 2 | g.233767848G>A | CA351072689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-1G>A (n.988-1G>A) c.1000-1G>A (n.1000-1G>A) c.994-1G>A (n.994-1G>A) c.997-1G>A (n.997-1G>A) c.193-1G>A (n.193-1G>A) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767848G>C | CA351072687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-1G>C (n.988-1G>C) c.1000-1G>C (n.1000-1G>C) c.994-1G>C (n.994-1G>C) c.997-1G>C (n.997-1G>C) c.193-1G>C (n.193-1G>C) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767848G>T | CA351072682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-1G>T (n.988-1G>T) c.1000-1G>T (n.1000-1G>T) c.994-1G>T (n.994-1G>T) c.997-1G>T (n.997-1G>T) c.193-1G>T (n.193-1G>T) | |
| 2 | g.233767849G>A | CA351072698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988G>A (p.Val330Ile) c.1000G>A (p.Val334Ile) c.994G>A (p.Val332Ile) c.997G>A (p.Val333Ile) c.193G>A (p.Val65Ile) | ClinVar gnomAD v4 |
| 2 | g.233767849G>C | CA351072703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988G>C (p.Val330Leu) c.1000G>C (p.Val334Leu) c.994G>C (p.Val332Leu) c.997G>C (p.Val333Leu) c.193G>C (p.Val65Leu) | |
| 2 | g.233767849G>T | CA351072718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988G>T (p.Val330Phe) c.1000G>T (p.Val334Phe) c.994G>T (p.Val332Phe) c.997G>T (p.Val333Phe) c.193G>T (p.Val65Phe) | |
| 2 | g.233767850T>A | CA351072723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>A (p.Val330Asp) c.1001T>A (p.Val334Asp) c.995T>A (p.Val332Asp) c.998T>A (p.Val333Asp) c.194T>A (p.Val65Asp) | |
| 2 | g.233767850T>C | CA351072735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>C (p.Val330Ala) c.1001T>C (p.Val334Ala) c.995T>C (p.Val332Ala) c.998T>C (p.Val333Ala) c.194T>C (p.Val65Ala) | |
| 2 | g.233767850T>G | CA351072737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>G (p.Val330Gly) c.1001T>G (p.Val334Gly) c.995T>G (p.Val332Gly) c.998T>G (p.Val333Gly) c.194T>G (p.Val65Gly) | |
| 2 | g.233767851C>A | CA431857495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>A (p.Val330=) c.1002C>A (p.Val334=) c.996C>A (p.Val332=) c.999C>A (p.Val333=) c.195C>A (p.Val65=) | |
| 2 | g.233767851C= | CA1335895066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C= (p.Val330=) c.1002C= (p.Val334=) c.996C= (p.Val332=) c.999C= (p.Val333=) c.195C= (p.Val65=) | |
| 2 | g.233767851C>G | CA2179961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>G (p.Val330=) c.1002C>G (p.Val334=) c.996C>G (p.Val332=) c.999C>G (p.Val333=) c.195C>G (p.Val65=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767851C>T | CA431857498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>T (p.Val330=) c.1002C>T (p.Val334=) c.996C>T (p.Val332=) c.999C>T (p.Val333=) c.195C>T (p.Val65=) | |
| 2 | g.233767852C>A | CA351072741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>A (p.Leu331Met) c.1003C>A (p.Leu335Met) c.997C>A (p.Leu333Met) c.1000C>A (p.Leu334Met) c.196C>A (p.Leu66Met) | |
| 2 | g.233767852C>G | CA351072743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>G (p.Leu331Val) c.1003C>G (p.Leu335Val) c.997C>G (p.Leu333Val) c.1000C>G (p.Leu334Val) c.196C>G (p.Leu66Val) | |
| 2 | g.233767852C>T | CA431857500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>T (p.Leu331=) c.1003C>T (p.Leu335=) c.997C>T (p.Leu333=) c.1000C>T (p.Leu334=) c.196C>T (p.Leu66=) | |
| 2 | g.233767853T>A | CA2179962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>A (p.Leu331Gln) c.1004T>A (p.Leu335Gln) c.998T>A (p.Leu333Gln) c.1001T>A (p.Leu334Gln) c.197T>A (p.Leu66Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767853T>C | CA351072750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>C (p.Leu331Pro) c.1004T>C (p.Leu335Pro) c.998T>C (p.Leu333Pro) c.1001T>C (p.Leu334Pro) c.197T>C (p.Leu66Pro) | gnomAD v4 |
| 2 | g.233767853T>G | CA351072754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>G (p.Leu331Arg) c.1004T>G (p.Leu335Arg) c.998T>G (p.Leu333Arg) c.1001T>G (p.Leu334Arg) c.197T>G (p.Leu66Arg) | |
| 2 | g.233767853T= | CA1335895067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T= (p.Leu331=) c.1004T= (p.Leu335=) c.998T= (p.Leu333=) c.1001T= (p.Leu334=) c.197T= (p.Leu66=) | |
| 2 | g.233767853_233767854delinsTG | CA1335895068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992_993delinsTG (p.Leu331=) c.1004_1005delinsTG (p.Leu335=) c.998_999delinsTG (p.Leu333=) c.1001_1002delinsTG (p.Leu334=) c.197_198delinsTG (p.Leu66=) | |
| 2 | g.233767854del | CA916801553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993del (p.Trp332GlyfsTer?) c.1005del (p.Trp336GlyfsTer?) c.999del (p.Trp334GlyfsTer?) c.1002del (p.Trp335GlyfsTer?) c.198del (p.Trp67GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233767854G>A | CA431857510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>A (p.Leu331=) c.1005G>A (p.Leu335=) c.999G>A (p.Leu333=) c.1002G>A (p.Leu334=) c.198G>A (p.Leu66=) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767854G>C | CA431857512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>C (p.Leu331=) c.1005G>C (p.Leu335=) c.999G>C (p.Leu333=) c.1002G>C (p.Leu334=) c.198G>C (p.Leu66=) | |
| 2 | g.233767854G>T | CA431857509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>T (p.Leu331=) c.1005G>T (p.Leu335=) c.999G>T (p.Leu333=) c.1002G>T (p.Leu334=) c.198G>T (p.Leu66=) | |
| 2 | g.233767855T>A | CA351072767 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>A (p.Trp332Arg) c.1006T>A (p.Trp336Arg) c.1000T>A (p.Trp334Arg) c.1003T>A (p.Trp335Arg) c.199T>A (p.Trp67Arg) | |
| 2 | g.233767855T>C | CA351072763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>C (p.Trp332Arg) c.1006T>C (p.Trp336Arg) c.1000T>C (p.Trp334Arg) c.1003T>C (p.Trp335Arg) c.199T>C (p.Trp67Arg) | |
| 2 | g.233767855T>G | CA351072761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>G (p.Trp332Gly) c.1006T>G (p.Trp336Gly) c.1000T>G (p.Trp334Gly) c.1003T>G (p.Trp335Gly) c.199T>G (p.Trp67Gly) | |
| 2 | g.233767856G>A | CA351072771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>A (p.Trp332Ter) c.1007G>A (p.Trp336Ter) c.1001G>A (p.Trp334Ter) c.1004G>A (p.Trp335Ter) c.200G>A (p.Trp67Ter) | gnomAD v4 |
| 2 | g.233767856G>C | CA351072774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>C (p.Trp332Ser) c.1007G>C (p.Trp336Ser) c.1001G>C (p.Trp334Ser) c.1004G>C (p.Trp335Ser) c.200G>C (p.Trp67Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767856G= | CA1335895069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G= (p.Trp332=) c.1007G= (p.Trp336=) c.1001G= (p.Trp334=) c.1004G= (p.Trp335=) c.200G= (p.Trp67=) | |
| 2 | g.233767856G>T | CA351072780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>T (p.Trp332Leu) c.1007G>T (p.Trp336Leu) c.1001G>T (p.Trp334Leu) c.1004G>T (p.Trp335Leu) c.200G>T (p.Trp67Leu) | |
| 2 | g.233767857G>A | CA351072783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>A (p.Trp332Ter) c.1008G>A (p.Trp336Ter) c.1002G>A (p.Trp334Ter) c.1005G>A (p.Trp335Ter) c.201G>A (p.Trp67Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767857G>C | CA351072787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>C (p.Trp332Cys) c.1008G>C (p.Trp336Cys) c.1002G>C (p.Trp334Cys) c.1005G>C (p.Trp335Cys) c.201G>C (p.Trp67Cys) | gnomAD v4 |
| 2 | g.233767857G= | CA1335895070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G= (p.Trp332=) c.1008G= (p.Trp336=) c.1002G= (p.Trp334=) c.1005G= (p.Trp335=) c.201G= (p.Trp67=) | |
| 2 | g.233767857G>T | CA351072792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>T (p.Trp332Cys) c.1008G>T (p.Trp336Cys) c.1002G>T (p.Trp334Cys) c.1005G>T (p.Trp335Cys) c.201G>T (p.Trp67Cys) | gnomAD v4 |
| 2 | g.233767858C>A | CA431857529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>A (p.Arg333=) c.1009C>A (p.Arg337=) c.1003C>A (p.Arg335=) c.1006C>A (p.Arg336=) c.202C>A (p.Arg68=) | |
| 2 | g.233767858C= | CA1335895071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C= (p.Arg333=) c.1009C= (p.Arg337=) c.1003C= (p.Arg335=) c.1006C= (p.Arg336=) c.202C= (p.Arg68=) | |
| 2 | g.233767858C>G | CA351072796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>G (p.Arg333Gly) c.1009C>G (p.Arg337Gly) c.1003C>G (p.Arg335Gly) c.1006C>G (p.Arg336Gly) c.202C>G (p.Arg68Gly) | |
| 2 | g.233767858C>T | CA2179964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>T (p.Arg333Trp) c.1009C>T (p.Arg337Trp) c.1003C>T (p.Arg335Trp) c.1006C>T (p.Arg336Trp) c.202C>T (p.Arg68Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767859G>A | CA2179965 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>A (p.Arg333Gln) c.1010G>A (p.Arg337Gln) c.1004G>A (p.Arg335Gln) c.1007G>A (p.Arg336Gln) c.203G>A (p.Arg68Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767859G>C | CA351072805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>C (p.Arg333Pro) c.1010G>C (p.Arg337Pro) c.1004G>C (p.Arg335Pro) c.1007G>C (p.Arg336Pro) c.203G>C (p.Arg68Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767859G= | CA1335895072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G= (p.Arg333=) c.1010G= (p.Arg337=) c.1004G= (p.Arg335=) c.1007G= (p.Arg336=) c.203G= (p.Arg68=) | |
| 2 | g.233767859G>T | CA351072808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998G>T (p.Arg333Leu) c.1010G>T (p.Arg337Leu) c.1004G>T (p.Arg335Leu) c.1007G>T (p.Arg336Leu) c.203G>T (p.Arg68Leu) | ClinVar gnomAD v4 |
| 2 | g.233767860del | CA2663717168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999del (p.Tyr334ThrfsTer29) c.1011del (p.Tyr338ThrfsTer29) c.1005del (p.Tyr336ThrfsTer29) c.1008del (p.Tyr337ThrfsTer29) c.204del (p.Tyr69ThrfsTer29) | gnomAD v4 |
| 2 | g.233767859_233767862dup | CA2179963 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.998_1001dup (p.Tyr334Ter) c.1010_1013dup (p.Tyr338Ter) c.1004_1007dup (p.Tyr336Ter) c.1007_1010dup (p.Tyr337Ter) c.203_206dup (p.Tyr69Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767860G>A | CA431857540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>A (p.Arg333=) c.1011G>A (p.Arg337=) c.1005G>A (p.Arg335=) c.1008G>A (p.Arg336=) c.204G>A (p.Arg68=) | |
| 2 | g.233767860G>C | CA431857538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>C (p.Arg333=) c.1011G>C (p.Arg337=) c.1005G>C (p.Arg335=) c.1008G>C (p.Arg336=) c.204G>C (p.Arg68=) | gnomAD v4 |
| 2 | g.233767860G= | CA1335895073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G= (p.Arg333=) c.1011G= (p.Arg337=) c.1005G= (p.Arg335=) c.1008G= (p.Arg336=) c.204G= (p.Arg68=) | |
| 2 | g.233767860G>T | CA431857541 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.999G>T (p.Arg333=) c.1011G>T (p.Arg337=) c.1005G>T (p.Arg335=) c.1008G>T (p.Arg336=) c.204G>T (p.Arg68=) | dbSNP |
| 2 | g.233767861T>A | CA351072819 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>A (p.Tyr334Asn) c.1012T>A (p.Tyr338Asn) c.1006T>A (p.Tyr336Asn) c.1009T>A (p.Tyr337Asn) c.205T>A (p.Tyr69Asn) | |
| 2 | g.233767861T>C | CA351072815 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>C (p.Tyr334His) c.1012T>C (p.Tyr338His) c.1006T>C (p.Tyr336His) c.1009T>C (p.Tyr337His) c.205T>C (p.Tyr69His) | gnomAD v4 |
| 2 | g.233767861T>G | CA351072811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1000T>G (p.Tyr334Asp) c.1012T>G (p.Tyr338Asp) c.1006T>G (p.Tyr336Asp) c.1009T>G (p.Tyr337Asp) c.205T>G (p.Tyr69Asp) | |
| 2 | g.233767862A= | CA1335895074 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A= (p.Tyr334=) c.1013A= (p.Tyr338=) c.1007A= (p.Tyr336=) c.1010A= (p.Tyr337=) c.206A= (p.Tyr69=) | |
| 2 | g.233767862A>C | CA351072823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>C (p.Tyr334Ser) c.1013A>C (p.Tyr338Ser) c.1007A>C (p.Tyr336Ser) c.1010A>C (p.Tyr337Ser) c.206A>C (p.Tyr69Ser) | |
| 2 | g.233767862A>G | CA351072836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>G (p.Tyr334Cys) c.1013A>G (p.Tyr338Cys) c.1007A>G (p.Tyr336Cys) c.1010A>G (p.Tyr337Cys) c.206A>G (p.Tyr69Cys) | dbSNP gnomAD v2 |
| 2 | g.233767862A>T | CA351072824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1001A>T (p.Tyr334Phe) c.1013A>T (p.Tyr338Phe) c.1007A>T (p.Tyr336Phe) c.1010A>T (p.Tyr337Phe) c.206A>T (p.Tyr69Phe) | |
| 2 | g.233767863C>A | CA351072838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>A (p.Tyr334Ter) c.1014C>A (p.Tyr338Ter) c.1008C>A (p.Tyr336Ter) c.1011C>A (p.Tyr337Ter) c.207C>A (p.Tyr69Ter) | |
| 2 | g.233767863C>G | CA351072840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>G (p.Tyr334Ter) c.1014C>G (p.Tyr338Ter) c.1008C>G (p.Tyr336Ter) c.1011C>G (p.Tyr337Ter) c.207C>G (p.Tyr69Ter) | |
| 2 | g.233767863C>T | CA431857548 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1002C>T (p.Tyr334=) c.1014C>T (p.Tyr338=) c.1008C>T (p.Tyr336=) c.1011C>T (p.Tyr337=) c.207C>T (p.Tyr69=) | |
| 2 | g.233767864A= | CA1335895075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A= (p.Thr335=) c.1015A= (p.Thr339=) c.1009A= (p.Thr337=) c.1012A= (p.Thr338=) c.208A= (p.Thr70=) | |
| 2 | g.233767864A>C | CA351072843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>C (p.Thr335Pro) c.1015A>C (p.Thr339Pro) c.1009A>C (p.Thr337Pro) c.1012A>C (p.Thr338Pro) c.208A>C (p.Thr70Pro) | |
| 2 | g.233767864A>G | CA67595775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>G (p.Thr335Ala) c.1015A>G (p.Thr339Ala) c.1009A>G (p.Thr337Ala) c.1012A>G (p.Thr338Ala) c.208A>G (p.Thr70Ala) | dbSNP gnomAD v4 |
| 2 | g.233767864A>T | CA351072856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1003A>T (p.Thr335Ser) c.1015A>T (p.Thr339Ser) c.1009A>T (p.Thr337Ser) c.1012A>T (p.Thr338Ser) c.208A>T (p.Thr70Ser) | gnomAD v4 |
| 2 | g.233767865C>A | CA351072858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>A (p.Thr335Asn) c.1016C>A (p.Thr339Asn) c.1010C>A (p.Thr337Asn) c.1013C>A (p.Thr338Asn) c.209C>A (p.Thr70Asn) | |
| 2 | g.233767865C>G | CA351072860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>G (p.Thr335Ser) c.1016C>G (p.Thr339Ser) c.1010C>G (p.Thr337Ser) c.1013C>G (p.Thr338Ser) c.209C>G (p.Thr70Ser) | |
| 2 | g.233767865C>T | CA351072863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1004C>T (p.Thr335Ile) c.1016C>T (p.Thr339Ile) c.1010C>T (p.Thr337Ile) c.1013C>T (p.Thr338Ile) c.209C>T (p.Thr70Ile) | |
| 2 | g.233767866T>A | CA431857560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>A (p.Thr335=) c.1017T>A (p.Thr339=) c.1011T>A (p.Thr337=) c.1014T>A (p.Thr338=) c.210T>A (p.Thr70=) | |
| 2 | g.233767866T>C | CA431857563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>C (p.Thr335=) c.1017T>C (p.Thr339=) c.1011T>C (p.Thr337=) c.1014T>C (p.Thr338=) c.210T>C (p.Thr70=) | |
| 2 | g.233767866T>G | CA67595776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T>G (p.Thr335=) c.1017T>G (p.Thr339=) c.1011T>G (p.Thr337=) c.1014T>G (p.Thr338=) c.210T>G (p.Thr70=) | dbSNP gnomAD v4 |
| 2 | g.233767866T= | CA1335895076 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1005T= (p.Thr335=) c.1017T= (p.Thr339=) c.1011T= (p.Thr337=) c.1014T= (p.Thr338=) c.210T= (p.Thr70=) | |
| 2 | g.233767867G>A | CA351072874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>A (p.Gly336Arg) c.1018G>A (p.Gly340Arg) c.1012G>A (p.Gly338Arg) c.1015G>A (p.Gly339Arg) c.211G>A (p.Gly71Arg) | gnomAD v4 |
| 2 | g.233767867G>C | CA351072875 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>C (p.Gly336Arg) c.1018G>C (p.Gly340Arg) c.1012G>C (p.Gly338Arg) c.1015G>C (p.Gly339Arg) c.211G>C (p.Gly71Arg) | |
| 2 | g.233767867G>T | CA351072876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1006G>T (p.Gly336Ter) c.1018G>T (p.Gly340Ter) c.1012G>T (p.Gly338Ter) c.1015G>T (p.Gly339Ter) c.211G>T (p.Gly71Ter) | |
| 2 | g.233767868G>A | CA351072879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>A (p.Gly336Glu) c.1019G>A (p.Gly340Glu) c.1013G>A (p.Gly338Glu) c.1016G>A (p.Gly339Glu) c.212G>A (p.Gly71Glu) | gnomAD v4 |
| 2 | g.233767868G>C | CA351072877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>C (p.Gly336Ala) c.1019G>C (p.Gly340Ala) c.1013G>C (p.Gly338Ala) c.1016G>C (p.Gly339Ala) c.212G>C (p.Gly71Ala) | |
| 2 | g.233767868G>T | CA351072878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1007G>T (p.Gly336Val) c.1019G>T (p.Gly340Val) c.1013G>T (p.Gly338Val) c.1016G>T (p.Gly339Val) c.212G>T (p.Gly71Val) | |
| 2 | g.233767869A>C | CA431857571 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1008A>C (p.Gly336=) c.1020A>C (p.Gly340=) c.1014A>C (p.Gly338=) c.1017A>C (p.Gly339=) c.213A>C (p.Gly71=) | |
| 2 | g.233767869A>G | CA431857576 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1008A>G (p.Gly336=) c.1020A>G (p.Gly340=) c.1014A>G (p.Gly338=) c.1017A>G (p.Gly339=) c.213A>G (p.Gly71=) | |
| 2 | g.233767869A>T | CA431857573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1008A>T (p.Gly336=) c.1020A>T (p.Gly340=) c.1014A>T (p.Gly338=) c.1017A>T (p.Gly339=) c.213A>T (p.Gly71=) | |
| 2 | g.233767870A>C | CA351072881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1009A>C (p.Thr337Pro) c.1021A>C (p.Thr341Pro) c.1015A>C (p.Thr339Pro) c.1018A>C (p.Thr340Pro) c.214A>C (p.Thr72Pro) | |
| 2 | g.233767870A>G | CA351072882 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1009A>G (p.Thr337Ala) c.1021A>G (p.Thr341Ala) c.1015A>G (p.Thr339Ala) c.1018A>G (p.Thr340Ala) c.214A>G (p.Thr72Ala) | |
| 2 | g.233767870A>T | CA351072884 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1009A>T (p.Thr337Ser) c.1021A>T (p.Thr341Ser) c.1015A>T (p.Thr339Ser) c.1018A>T (p.Thr340Ser) c.214A>T (p.Thr72Ser) | |
| 2 | g.233767871C>A | CA351072886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1010C>A (p.Thr337Asn) c.1022C>A (p.Thr341Asn) c.1016C>A (p.Thr339Asn) c.1019C>A (p.Thr340Asn) c.215C>A (p.Thr72Asn) | |
| 2 | g.233767871C>G | CA351072898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1010C>G (p.Thr337Ser) c.1022C>G (p.Thr341Ser) c.1016C>G (p.Thr339Ser) c.1019C>G (p.Thr340Ser) c.215C>G (p.Thr72Ser) | gnomAD v4 |
| 2 | g.233767871C>T | CA351072900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1010C>T (p.Thr337Ile) c.1022C>T (p.Thr341Ile) c.1016C>T (p.Thr339Ile) c.1019C>T (p.Thr340Ile) c.215C>T (p.Thr72Ile) | |
| 2 | g.233767872C>A | CA431857585 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1011C>A (p.Thr337=) c.1023C>A (p.Thr341=) c.1017C>A (p.Thr339=) c.1020C>A (p.Thr340=) c.216C>A (p.Thr72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767872C= | CA1335895077 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1011C= (p.Thr337=) c.1023C= (p.Thr341=) c.1017C= (p.Thr339=) c.1020C= (p.Thr340=) c.216C= (p.Thr72=) | |
| 2 | g.233767872C>G | CA67595781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1011C>G (p.Thr337=) c.1023C>G (p.Thr341=) c.1017C>G (p.Thr339=) c.1020C>G (p.Thr340=) c.216C>G (p.Thr72=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767872C>T | CA431857587 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1011C>T (p.Thr337=) c.1023C>T (p.Thr341=) c.1017C>T (p.Thr339=) c.1020C>T (p.Thr340=) c.216C>T (p.Thr72=) | |
| 2 | g.233767873C>A | CA431857591 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>A (p.Arg338=) c.1024C>A (p.Arg342=) c.1018C>A (p.Arg340=) c.1021C>A (p.Arg341=) c.217C>A (p.Arg73=) | |
| 2 | g.233767873C= | CA1335895078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C= (p.Arg338=) c.1024C= (p.Arg342=) c.1018C= (p.Arg340=) c.1021C= (p.Arg341=) c.217C= (p.Arg73=) | |
| 2 | g.233767873C>G | CA351072904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>G (p.Arg338Gly) c.1024C>G (p.Arg342Gly) c.1018C>G (p.Arg340Gly) c.1021C>G (p.Arg341Gly) c.217C>G (p.Arg73Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767873C>T | CA122029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>T (p.Arg338Ter) c.1024C>T (p.Arg342Ter) c.1018C>T (p.Arg340Ter) c.1021C>T (p.Arg341Ter) c.217C>T (p.Arg73Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767874G>A | CA2179966 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G>A (p.Arg338Gln) c.1025G>A (p.Arg342Gln) c.1019G>A (p.Arg340Gln) c.1022G>A (p.Arg341Gln) c.218G>A (p.Arg73Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767874G>C | CA351072912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G>C (p.Arg338Pro) c.1025G>C (p.Arg342Pro) c.1019G>C (p.Arg340Pro) c.1022G>C (p.Arg341Pro) c.218G>C (p.Arg73Pro) | |
| 2 | g.233767874G= | CA1335895079 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G= (p.Arg338=) c.1025G= (p.Arg342=) c.1019G= (p.Arg340=) c.1022G= (p.Arg341=) c.218G= (p.Arg73=) | |
| 2 | g.233767874G>T | CA351072914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013G>T (p.Arg338Leu) c.1025G>T (p.Arg342Leu) c.1019G>T (p.Arg340Leu) c.1022G>T (p.Arg341Leu) c.218G>T (p.Arg73Leu) | |
| 2 | g.233767874_233767877delinsGACC | CA1335895080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1013_1016delinsGACC (p.Arg338=) c.1025_1028delinsGACC (p.Arg342=) c.1019_1022delinsGACC (p.Arg340=) c.1022_1025delinsGACC (p.Arg341=) c.218_221delinsGACC (p.Arg73=) | |
| 2 | g.233767875A>C | CA431857602 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>C (p.Arg338=) c.1026A>C (p.Arg342=) c.1020A>C (p.Arg340=) c.1023A>C (p.Arg341=) c.219A>C (p.Arg73=) | |
| 2 | g.233767875A>G | CA431857600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>G (p.Arg338=) c.1026A>G (p.Arg342=) c.1020A>G (p.Arg340=) c.1023A>G (p.Arg341=) c.219A>G (p.Arg73=) | |
| 2 | g.233767875A>T | CA431857598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1014A>T (p.Arg338=) c.1026A>T (p.Arg342=) c.1020A>T (p.Arg340=) c.1023A>T (p.Arg341=) c.219A>T (p.Arg73=) | |
| 2 | g.233767876_233767878del | CA540311596 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015_1017del (p.Pro339del) c.1027_1029del (p.Pro343del) c.1021_1023del (p.Pro341del) c.1024_1026del (p.Pro342del) c.220_222del (p.Pro74del) | dbSNP gnomAD v2 |
| 2 | g.233767876C>A | CA67595798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C>A (p.Pro339Thr) c.1027C>A (p.Pro343Thr) c.1021C>A (p.Pro341Thr) c.1024C>A (p.Pro342Thr) c.220C>A (p.Pro74Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767876C= | CA1335895081 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C= (p.Pro339=) c.1027C= (p.Pro343=) c.1021C= (p.Pro341=) c.1024C= (p.Pro342=) c.220C= (p.Pro74=) | |
| 2 | g.233767876C>G | CA351072921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C>G (p.Pro339Ala) c.1027C>G (p.Pro343Ala) c.1021C>G (p.Pro341Ala) c.1024C>G (p.Pro342Ala) c.220C>G (p.Pro74Ala) | |
| 2 | g.233767876C>T | CA351072916 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1015C>T (p.Pro339Ser) c.1027C>T (p.Pro343Ser) c.1021C>T (p.Pro341Ser) c.1024C>T (p.Pro342Ser) c.220C>T (p.Pro74Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767877C>A | CA351072926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>A (p.Pro339Gln) c.1028C>A (p.Pro343Gln) c.1022C>A (p.Pro341Gln) c.1025C>A (p.Pro342Gln) c.221C>A (p.Pro74Gln) | |
| 2 | g.233767877C>G | CA351072929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>G (p.Pro339Arg) c.1028C>G (p.Pro343Arg) c.1022C>G (p.Pro341Arg) c.1025C>G (p.Pro342Arg) c.221C>G (p.Pro74Arg) | |
| 2 | g.233767877C>T | CA351072941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1016C>T (p.Pro339Leu) c.1028C>T (p.Pro343Leu) c.1022C>T (p.Pro341Leu) c.1025C>T (p.Pro342Leu) c.221C>T (p.Pro74Leu) | |
| 2 | g.233767878del | CA2663717204 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017del (p.Ser340ArgfsTer23) c.1029del (p.Ser344ArgfsTer23) c.1023del (p.Ser342ArgfsTer23) c.1026del (p.Ser343ArgfsTer23) c.222del (p.Ser75ArgfsTer23) | gnomAD v4 |
| 2 | g.233767878A= | CA1335895082 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A= (p.Pro339=) c.1029A= (p.Pro343=) c.1023A= (p.Pro341=) c.1026A= (p.Pro342=) c.222A= (p.Pro74=) | |
| 2 | g.233767878A>C | CA431857618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A>C (p.Pro339=) c.1029A>C (p.Pro343=) c.1023A>C (p.Pro341=) c.1026A>C (p.Pro342=) c.222A>C (p.Pro74=) | |
| 2 | g.233767878A>G | CA431857616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A>G (p.Pro339=) c.1029A>G (p.Pro343=) c.1023A>G (p.Pro341=) c.1026A>G (p.Pro342=) c.222A>G (p.Pro74=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767878A>T | CA2179967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1017A>T (p.Pro339=) c.1029A>T (p.Pro343=) c.1023A>T (p.Pro341=) c.1026A>T (p.Pro342=) c.222A>T (p.Pro74=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767879T>A | CA351072948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1018T>A (p.Ser340Thr) c.1030T>A (p.Ser344Thr) c.1024T>A (p.Ser342Thr) c.1027T>A (p.Ser343Thr) c.223T>A (p.Ser75Thr) | |
| 2 | g.233767879T>C | CA351072950 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1018T>C (p.Ser340Pro) c.1030T>C (p.Ser344Pro) c.1024T>C (p.Ser342Pro) c.1027T>C (p.Ser343Pro) c.223T>C (p.Ser75Pro) | gnomAD v4 |
| 2 | g.233767879T>G | CA351072975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1018T>G (p.Ser340Ala) c.1030T>G (p.Ser344Ala) c.1024T>G (p.Ser342Ala) c.1027T>G (p.Ser343Ala) c.223T>G (p.Ser75Ala) | |
| 2 | g.233767880C>A | CA2179969 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1019C>A (p.Ser340Ter) c.1031C>A (p.Ser344Ter) c.1025C>A (p.Ser342Ter) c.1028C>A (p.Ser343Ter) c.224C>A (p.Ser75Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767880C= | CA1335895083 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1019C= (p.Ser340=) c.1031C= (p.Ser344=) c.1025C= (p.Ser342=) c.1028C= (p.Ser343=) c.224C= (p.Ser75=) | |
| 2 | g.233767880C>G | CA351072986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1019C>G (p.Ser340Trp) c.1031C>G (p.Ser344Trp) c.1025C>G (p.Ser342Trp) c.1028C>G (p.Ser343Trp) c.224C>G (p.Ser75Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767880C>T | CA2179968 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1019C>T (p.Ser340Leu) c.1031C>T (p.Ser344Leu) c.1025C>T (p.Ser342Leu) c.1028C>T (p.Ser343Leu) c.224C>T (p.Ser75Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767881G>A | CA431857631 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G>A (p.Ser340=) c.1032G>A (p.Ser344=) c.1026G>A (p.Ser342=) c.1029G>A (p.Ser343=) c.225G>A (p.Ser75=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767881G>C | CA431857633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G>C (p.Ser340=) c.1032G>C (p.Ser344=) c.1026G>C (p.Ser342=) c.1029G>C (p.Ser343=) c.225G>C (p.Ser75=) | |
| 2 | g.233767881G= | CA1335895084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G= (p.Ser340=) c.1032G= (p.Ser344=) c.1026G= (p.Ser342=) c.1029G= (p.Ser343=) c.225G= (p.Ser75=) | |
| 2 | g.233767881G>T | CA431857630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1020G>T (p.Ser340=) c.1032G>T (p.Ser344=) c.1026G>T (p.Ser342=) c.1029G>T (p.Ser343=) c.225G>T (p.Ser75=) | dbSNP |
| 2 | g.233767882A>C | CA351073009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>C (p.Asn341His) c.1033A>C (p.Asn345His) c.1027A>C (p.Asn343His) c.1030A>C (p.Asn344His) c.226A>C (p.Asn76His) | |
| 2 | g.233767882A>G | CA351073014 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>G (p.Asn341Asp) c.1033A>G (p.Asn345Asp) c.1027A>G (p.Asn343Asp) c.1030A>G (p.Asn344Asp) c.226A>G (p.Asn76Asp) | |
| 2 | g.233767882A>T | CA351073017 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1021A>T (p.Asn341Tyr) c.1033A>T (p.Asn345Tyr) c.1027A>T (p.Asn343Tyr) c.1030A>T (p.Asn344Tyr) c.226A>T (p.Asn76Tyr) | |
| 2 | g.233767883A= | CA1335895085 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A= (p.Asn341=) c.1034A= (p.Asn345=) c.1028A= (p.Asn343=) c.1031A= (p.Asn344=) c.227A= (p.Asn76=) | |
| 2 | g.233767883A>C | CA351073022 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A>C (p.Asn341Thr) c.1034A>C (p.Asn345Thr) c.1028A>C (p.Asn343Thr) c.1031A>C (p.Asn344Thr) c.227A>C (p.Asn76Thr) | |
| 2 | g.233767883A>G | CA351073020 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A>G (p.Asn341Ser) c.1034A>G (p.Asn345Ser) c.1028A>G (p.Asn343Ser) c.1031A>G (p.Asn344Ser) c.227A>G (p.Asn76Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767883A>T | CA351073021 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1022A>T (p.Asn341Ile) c.1034A>T (p.Asn345Ile) c.1028A>T (p.Asn343Ile) c.1031A>T (p.Asn344Ile) c.227A>T (p.Asn76Ile) | |
| 2 | g.233767884T>A | CA2179970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T>A (p.Asn341Lys) c.1035T>A (p.Asn345Lys) c.1029T>A (p.Asn343Lys) c.1032T>A (p.Asn344Lys) c.228T>A (p.Asn76Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767884T>C | CA431857644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T>C (p.Asn341=) c.1035T>C (p.Asn345=) c.1029T>C (p.Asn343=) c.1032T>C (p.Asn344=) c.228T>C (p.Asn76=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767884T>G | CA351073034 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T>G (p.Asn341Lys) c.1035T>G (p.Asn345Lys) c.1029T>G (p.Asn343Lys) c.1032T>G (p.Asn344Lys) c.228T>G (p.Asn76Lys) | |
| 2 | g.233767884T= | CA1335895086 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1023T= (p.Asn341=) c.1035T= (p.Asn345=) c.1029T= (p.Asn343=) c.1032T= (p.Asn344=) c.228T= (p.Asn76=) | |
| 2 | g.233767885C>A | CA351073037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>A (p.Leu342Ile) c.1036C>A (p.Leu346Ile) c.1030C>A (p.Leu344Ile) c.1033C>A (p.Leu345Ile) c.229C>A (p.Leu77Ile) | |
| 2 | g.233767885C>G | CA351073038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>G (p.Leu342Val) c.1036C>G (p.Leu346Val) c.1030C>G (p.Leu344Val) c.1033C>G (p.Leu345Val) c.229C>G (p.Leu77Val) | |
| 2 | g.233767885C>T | CA351073040 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1024C>T (p.Leu342Phe) c.1036C>T (p.Leu346Phe) c.1030C>T (p.Leu344Phe) c.1033C>T (p.Leu345Phe) c.229C>T (p.Leu77Phe) | |
| 2 | g.233767886T>A | CA351073045 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1025T>A (p.Leu342His) c.1037T>A (p.Leu346His) c.1031T>A (p.Leu344His) c.1034T>A (p.Leu345His) c.230T>A (p.Leu77His) | |
| 2 | g.233767886T>C | CA351073063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1025T>C (p.Leu342Pro) c.1037T>C (p.Leu346Pro) c.1031T>C (p.Leu344Pro) c.1034T>C (p.Leu345Pro) c.230T>C (p.Leu77Pro) | dbSNP |
| 2 | g.233767886T>G | CA351073067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1025T>G (p.Leu342Arg) c.1037T>G (p.Leu346Arg) c.1031T>G (p.Leu344Arg) c.1034T>G (p.Leu345Arg) c.230T>G (p.Leu77Arg) | |
| 2 | g.233767886T= | CA1335895087 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1025T= (p.Leu342=) c.1037T= (p.Leu346=) c.1031T= (p.Leu344=) c.1034T= (p.Leu345=) c.230T= (p.Leu77=) | |
| 2 | g.233767887T>A | CA431857652 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1026T>A (p.Leu342=) c.1038T>A (p.Leu346=) c.1032T>A (p.Leu344=) c.1035T>A (p.Leu345=) c.231T>A (p.Leu77=) | |
| 2 | g.233767887T>C | CA431857653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1026T>C (p.Leu342=) c.1038T>C (p.Leu346=) c.1032T>C (p.Leu344=) c.1035T>C (p.Leu345=) c.231T>C (p.Leu77=) | |
| 2 | g.233767887T>G | CA431857655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1026T>G (p.Leu342=) c.1038T>G (p.Leu346=) c.1032T>G (p.Leu344=) c.1035T>G (p.Leu345=) c.231T>G (p.Leu77=) | dbSNP |
| 2 | g.233767887T= | CA1335895088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1026T= (p.Leu342=) c.1038T= (p.Leu346=) c.1032T= (p.Leu344=) c.1035T= (p.Leu345=) c.231T= (p.Leu77=) | |
| 2 | g.233767888G>A | CA2179972 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1027G>A (p.Ala343Thr) c.1039G>A (p.Ala347Thr) c.1033G>A (p.Ala345Thr) c.1036G>A (p.Ala346Thr) c.232G>A (p.Ala78Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767888G>C | CA351073071 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1027G>C (p.Ala343Pro) c.1039G>C (p.Ala347Pro) c.1033G>C (p.Ala345Pro) c.1036G>C (p.Ala346Pro) c.232G>C (p.Ala78Pro) | |
| 2 | g.233767888G= | CA1335895089 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1027G= (p.Ala343=) c.1039G= (p.Ala347=) c.1033G= (p.Ala345=) c.1036G= (p.Ala346=) c.232G= (p.Ala78=) | |
| 2 | g.233767888G>T | CA2179971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1027G>T (p.Ala343Ser) c.1039G>T (p.Ala347Ser) c.1033G>T (p.Ala345Ser) c.1036G>T (p.Ala346Ser) c.232G>T (p.Ala78Ser) | dbSNP ExAC gnomAD v2 |
| 2 | g.233767888dup | CA2663717218 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1027dup (p.Ala343GlyfsTer8) c.1039dup (p.Ala347GlyfsTer8) c.1033dup (p.Ala345GlyfsTer8) c.1036dup (p.Ala346GlyfsTer8) c.232dup (p.Ala78GlyfsTer8) | gnomAD v4 |
| 2 | g.233767889C>A | CA351073088 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1028C>A (p.Ala343Glu) c.1040C>A (p.Ala347Glu) c.1034C>A (p.Ala345Glu) c.1037C>A (p.Ala346Glu) c.233C>A (p.Ala78Glu) | gnomAD v4 |
| 2 | g.233767889C= | CA1335895090 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1028C= (p.Ala343=) c.1040C= (p.Ala347=) c.1034C= (p.Ala345=) c.1037C= (p.Ala346=) c.233C= (p.Ala78=) | |
| 2 | g.233767889C>G | CA351073084 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1028C>G (p.Ala343Gly) c.1040C>G (p.Ala347Gly) c.1034C>G (p.Ala345Gly) c.1037C>G (p.Ala346Gly) c.233C>G (p.Ala78Gly) | |
| 2 | g.233767889C>T | CA2179973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1028C>T (p.Ala343Val) c.1040C>T (p.Ala347Val) c.1034C>T (p.Ala345Val) c.1037C>T (p.Ala346Val) c.233C>T (p.Ala78Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767890G>A | CA2179974 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1029G>A (p.Ala343=) c.1041G>A (p.Ala347=) c.1035G>A (p.Ala345=) c.1038G>A (p.Ala346=) c.234G>A (p.Ala78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 2 | g.233767890G>C | CA431857667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1029G>C (p.Ala343=) c.1041G>C (p.Ala347=) c.1035G>C (p.Ala345=) c.1038G>C (p.Ala346=) c.234G>C (p.Ala78=) | gnomAD v4 |
| 2 | g.233767890G= | CA1335895091 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1029G= (p.Ala343=) c.1041G= (p.Ala347=) c.1035G= (p.Ala345=) c.1038G= (p.Ala346=) c.234G= (p.Ala78=) | |
| 2 | g.233767890G>T | CA431857669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1029G>T (p.Ala343=) c.1041G>T (p.Ala347=) c.1035G>T (p.Ala345=) c.1038G>T (p.Ala346=) c.234G>T (p.Ala78=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767891A>C | CA351073095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1030A>C (p.Asn344His) c.1042A>C (p.Asn348His) c.1036A>C (p.Asn346His) c.1039A>C (p.Asn347His) c.235A>C (p.Asn79His) | |
| 2 | g.233767891A>G | CA351073093 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1030A>G (p.Asn344Asp) c.1042A>G (p.Asn348Asp) c.1036A>G (p.Asn346Asp) c.1039A>G (p.Asn347Asp) c.235A>G (p.Asn79Asp) | |
| 2 | g.233767891A>T | CA351073094 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1030A>T (p.Asn344Tyr) c.1042A>T (p.Asn348Tyr) c.1036A>T (p.Asn346Tyr) c.1039A>T (p.Asn347Tyr) c.235A>T (p.Asn79Tyr) | |
| 2 | g.233767892A>C | CA351073097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1031A>C (p.Asn344Thr) c.1043A>C (p.Asn348Thr) c.1037A>C (p.Asn346Thr) c.1040A>C (p.Asn347Thr) c.236A>C (p.Asn79Thr) | |
| 2 | g.233767892A>G | CA351073103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1031A>G (p.Asn344Ser) c.1043A>G (p.Asn348Ser) c.1037A>G (p.Asn346Ser) c.1040A>G (p.Asn347Ser) c.236A>G (p.Asn79Ser) | |
| 2 | g.233767892A>T | CA351073107 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1031A>T (p.Asn344Ile) c.1043A>T (p.Asn348Ile) c.1037A>T (p.Asn346Ile) c.1040A>T (p.Asn347Ile) c.236A>T (p.Asn79Ile) | |
| 2 | g.233767893C>A | CA351073110 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1032C>A (p.Asn344Lys) c.1044C>A (p.Asn348Lys) c.1038C>A (p.Asn346Lys) c.1041C>A (p.Asn347Lys) c.237C>A (p.Asn79Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767893C= | CA1335895093 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1032C= (p.Asn344=) c.1044C= (p.Asn348=) c.1038C= (p.Asn346=) c.1041C= (p.Asn347=) c.237C= (p.Asn79=) | |
| 2 | g.233767893C>G | CA351073111 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1032C>G (p.Asn344Lys) c.1044C>G (p.Asn348Lys) c.1038C>G (p.Asn346Lys) c.1041C>G (p.Asn347Lys) c.237C>G (p.Asn79Lys) | |
| 2 | g.233767893C>T | CA431857679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1032C>T (p.Asn344=) c.1044C>T (p.Asn348=) c.1038C>T (p.Asn346=) c.1041C>T (p.Asn347=) c.237C>T (p.Asn79=) | |
| 2 | g.233767893_233767894delinsCA | CA1335895092 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1032_1033delinsCA (p.Asn344=) c.1044_1045delinsCA (p.Asn348=) c.1038_1039delinsCA (p.Asn346=) c.1041_1042delinsCA (p.Asn347=) c.237_238delinsCA (p.Asn79=) | |
| 2 | g.233767894A>C | CA351073112 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1033A>C (p.Asn345His) c.1045A>C (p.Asn349His) c.1039A>C (p.Asn347His) c.1042A>C (p.Asn348His) c.238A>C (p.Asn80His) | |
| 2 | g.233767894A>G | CA351073113 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1033A>G (p.Asn345Asp) c.1045A>G (p.Asn349Asp) c.1039A>G (p.Asn347Asp) c.1042A>G (p.Asn348Asp) c.238A>G (p.Asn80Asp) | |
| 2 | g.233767894A>T | CA351073117 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1033A>T (p.Asn345Tyr) c.1045A>T (p.Asn349Tyr) c.1039A>T (p.Asn347Tyr) c.1042A>T (p.Asn348Tyr) c.238A>T (p.Asn80Tyr) | |
| 2 | g.233767895del | CA2179975 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1034del (p.Asn345ThrfsTer18) c.1046del (p.Asn349ThrfsTer18) c.1040del (p.Asn347ThrfsTer18) c.1043del (p.Asn348ThrfsTer18) c.239del (p.Asn80ThrfsTer18) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.233767895A>C | CA351073161 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1034A>C (p.Asn345Thr) c.1046A>C (p.Asn349Thr) c.1040A>C (p.Asn347Thr) c.1043A>C (p.Asn348Thr) c.239A>C (p.Asn80Thr) | |
| 2 | g.233767895A>G | CA351073166 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1034A>G (p.Asn345Ser) c.1046A>G (p.Asn349Ser) c.1040A>G (p.Asn347Ser) c.1043A>G (p.Asn348Ser) c.239A>G (p.Asn80Ser) | |
| 2 | g.233767895A>T | CA351073170 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1034A>T (p.Asn345Ile) c.1046A>T (p.Asn349Ile) c.1040A>T (p.Asn347Ile) c.1043A>T (p.Asn348Ile) c.239A>T (p.Asn80Ile) | |
| 2 | g.233767896C>A | CA351073174 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1035C>A (p.Asn345Lys) c.1047C>A (p.Asn349Lys) c.1041C>A (p.Asn347Lys) c.1044C>A (p.Asn348Lys) c.240C>A (p.Asn80Lys) | |
| 2 | g.233767896C= | CA1335895094 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1035C= (p.Asn345=) c.1047C= (p.Asn349=) c.1041C= (p.Asn347=) c.1044C= (p.Asn348=) c.240C= (p.Asn80=) | |
| 2 | g.233767896C>G | CA351073173 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1035C>G (p.Asn345Lys) c.1047C>G (p.Asn349Lys) c.1041C>G (p.Asn347Lys) c.1044C>G (p.Asn348Lys) c.240C>G (p.Asn80Lys) | |
| 2 | g.233767896C>T | CA431857692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1035C>T (p.Asn345=) c.1047C>T (p.Asn349=) c.1041C>T (p.Asn347=) c.1044C>T (p.Asn348=) c.240C>T (p.Asn80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767897A>C | CA351073175 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1036A>C (p.Thr346Pro) c.1048A>C (p.Thr350Pro) c.1042A>C (p.Thr348Pro) c.1045A>C (p.Thr349Pro) c.241A>C (p.Thr81Pro) | |
| 2 | g.233767897A>G | CA351073176 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1036A>G (p.Thr346Ala) c.1048A>G (p.Thr350Ala) c.1042A>G (p.Thr348Ala) c.1045A>G (p.Thr349Ala) c.241A>G (p.Thr81Ala) | gnomAD v4 |
| 2 | g.233767897A>T | CA351073179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1036A>T (p.Thr346Ser) c.1048A>T (p.Thr350Ser) c.1042A>T (p.Thr348Ser) c.1045A>T (p.Thr349Ser) c.241A>T (p.Thr81Ser) | |
| 2 | g.233767898C>A | CA351073185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1037C>A (p.Thr346Lys) c.1049C>A (p.Thr350Lys) c.1043C>A (p.Thr348Lys) c.1046C>A (p.Thr349Lys) c.242C>A (p.Thr81Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767898C= | CA1335895095 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1037C= (p.Thr346=) c.1049C= (p.Thr350=) c.1043C= (p.Thr348=) c.1046C= (p.Thr349=) c.242C= (p.Thr81=) | |
| 2 | g.233767898C>G | CA351073192 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1037C>G (p.Thr346Arg) c.1049C>G (p.Thr350Arg) c.1043C>G (p.Thr348Arg) c.1046C>G (p.Thr349Arg) c.242C>G (p.Thr81Arg) | |
| 2 | g.233767898C>T | CA2179976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1037C>T (p.Thr346Met) c.1049C>T (p.Thr350Met) c.1043C>T (p.Thr348Met) c.1046C>T (p.Thr349Met) c.242C>T (p.Thr81Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767899del | CA2586965620 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1038del (p.Ile347TyrfsTer16) c.1050del (p.Ile351TyrfsTer16) c.1044del (p.Ile349TyrfsTer16) c.1047del (p.Ile350TyrfsTer16) c.243del (p.Ile82TyrfsTer16) | |
| 2 | g.233767899G>A | CA2179977 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1038G>A (p.Thr346=) c.1050G>A (p.Thr350=) c.1044G>A (p.Thr348=) c.1047G>A (p.Thr349=) c.243G>A (p.Thr81=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767899G>C | CA431857706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1038G>C (p.Thr346=) c.1050G>C (p.Thr350=) c.1044G>C (p.Thr348=) c.1047G>C (p.Thr349=) c.243G>C (p.Thr81=) | |
| 2 | g.233767899G= | CA1335895096 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1038G= (p.Thr346=) c.1050G= (p.Thr350=) c.1044G= (p.Thr348=) c.1047G= (p.Thr349=) c.243G= (p.Thr81=) | |
| 2 | g.233767899G>T | CA431857704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1038G>T (p.Thr346=) c.1050G>T (p.Thr350=) c.1044G>T (p.Thr348=) c.1047G>T (p.Thr349=) c.243G>T (p.Thr81=) | gnomAD v4 |
| 2 | g.233767900A>C | CA351073201 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1039A>C (p.Ile347Leu) c.1051A>C (p.Ile351Leu) c.1045A>C (p.Ile349Leu) c.1048A>C (p.Ile350Leu) c.244A>C (p.Ile82Leu) | |
| 2 | g.233767900A>G | CA351073208 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1039A>G (p.Ile347Val) c.1051A>G (p.Ile351Val) c.1045A>G (p.Ile349Val) c.1048A>G (p.Ile350Val) c.244A>G (p.Ile82Val) | |
| 2 | g.233767900A>T | CA351073205 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1039A>T (p.Ile347Leu) c.1051A>T (p.Ile351Leu) c.1045A>T (p.Ile349Leu) c.1048A>T (p.Ile350Leu) c.244A>T (p.Ile82Leu) | |
| 2 | g.233767901T>A | CA351073223 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1040T>A (p.Ile347Lys) c.1052T>A (p.Ile351Lys) c.1046T>A (p.Ile349Lys) c.1049T>A (p.Ile350Lys) c.245T>A (p.Ile82Lys) | |
| 2 | g.233767901T>C | CA351073227 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1040T>C (p.Ile347Thr) c.1052T>C (p.Ile351Thr) c.1046T>C (p.Ile349Thr) c.1049T>C (p.Ile350Thr) c.245T>C (p.Ile82Thr) | gnomAD v4 |
| 2 | g.233767901T>G | CA351073230 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1040T>G (p.Ile347Arg) c.1052T>G (p.Ile351Arg) c.1046T>G (p.Ile349Arg) c.1049T>G (p.Ile350Arg) c.245T>G (p.Ile82Arg) | |
| 2 | g.233767902A= | CA1335895097 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1041A= (p.Ile347=) c.1053A= (p.Ile351=) c.1047A= (p.Ile349=) c.1050A= (p.Ile350=) c.246A= (p.Ile82=) | |
| 2 | g.233767902A>C | CA431857717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1041A>C (p.Ile347=) c.1053A>C (p.Ile351=) c.1047A>C (p.Ile349=) c.1050A>C (p.Ile350=) c.246A>C (p.Ile82=) | |
| 2 | g.233767902A>G | CA351073235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1041A>G (p.Ile347Met) c.1053A>G (p.Ile351Met) c.1047A>G (p.Ile349Met) c.1050A>G (p.Ile350Met) c.246A>G (p.Ile82Met) | dbSNP |
| 2 | g.233767902A>T | CA431857715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1041A>T (p.Ile347=) c.1053A>T (p.Ile351=) c.1047A>T (p.Ile349=) c.1050A>T (p.Ile350=) c.246A>T (p.Ile82=) | |
| 2 | g.233767903C>A | CA351073239 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1042C>A (p.Leu348Ile) c.1054C>A (p.Leu352Ile) c.1048C>A (p.Leu350Ile) c.1051C>A (p.Leu351Ile) c.247C>A (p.Leu83Ile) | |
| 2 | g.233767903C= | CA1335895098 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1042C= (p.Leu348=) c.1054C= (p.Leu352=) c.1048C= (p.Leu350=) c.1051C= (p.Leu351=) c.247C= (p.Leu83=) | |
| 2 | g.233767903C>G | CA351073261 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1042C>G (p.Leu348Val) c.1054C>G (p.Leu352Val) c.1048C>G (p.Leu350Val) c.1051C>G (p.Leu351Val) c.247C>G (p.Leu83Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233767903C>T | CA2179978 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1042C>T (p.Leu348Phe) c.1054C>T (p.Leu352Phe) c.1048C>T (p.Leu350Phe) c.1051C>T (p.Leu351Phe) c.247C>T (p.Leu83Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767904T>A | CA351073265 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1043T>A (p.Leu348His) c.1055T>A (p.Leu352His) c.1049T>A (p.Leu350His) c.1052T>A (p.Leu351His) c.248T>A (p.Leu83His) | |
| 2 | g.233767904T>C | CA351073266 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1043T>C (p.Leu348Pro) c.1055T>C (p.Leu352Pro) c.1049T>C (p.Leu350Pro) c.1052T>C (p.Leu351Pro) c.248T>C (p.Leu83Pro) | |
| 2 | g.233767904T>G | CA351073268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1043T>G (p.Leu348Arg) c.1055T>G (p.Leu352Arg) c.1049T>G (p.Leu350Arg) c.1052T>G (p.Leu351Arg) c.248T>G (p.Leu83Arg) | |
| 2 | g.233767906_233767908del | CA2663717246 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1045_1047del (p.Val349del) c.1057_1059del (p.Val353del) c.1051_1053del (p.Val351del) c.1054_1056del (p.Val352del) c.250_252del (p.Val84del) | gnomAD v4 |
| 2 | g.233767905T>A | CA431857731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1044T>A (p.Leu348=) c.1056T>A (p.Leu352=) c.1050T>A (p.Leu350=) c.1053T>A (p.Leu351=) c.249T>A (p.Leu83=) | |
| 2 | g.233767905T>C | CA431857727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1044T>C (p.Leu348=) c.1056T>C (p.Leu352=) c.1050T>C (p.Leu350=) c.1053T>C (p.Leu351=) c.249T>C (p.Leu83=) | |
| 2 | g.233767905T>G | CA431857728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1044T>G (p.Leu348=) c.1056T>G (p.Leu352=) c.1050T>G (p.Leu350=) c.1053T>G (p.Leu351=) c.249T>G (p.Leu83=) | |
| 2 | g.233767906G>A | CA351073273 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1045G>A (p.Val349Ile) c.1057G>A (p.Val353Ile) c.1051G>A (p.Val351Ile) c.1054G>A (p.Val352Ile) c.250G>A (p.Val84Ile) | |
| 2 | g.233767906G>C | CA351073274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1045G>C (p.Val349Leu) c.1057G>C (p.Val353Leu) c.1051G>C (p.Val351Leu) c.1054G>C (p.Val352Leu) c.250G>C (p.Val84Leu) | |
| 2 | g.233767906G>T | CA351073275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1045G>T (p.Val349Phe) c.1057G>T (p.Val353Phe) c.1051G>T (p.Val351Phe) c.1054G>T (p.Val352Phe) c.250G>T (p.Val84Phe) | |
| 2 | g.233767907T>A | CA351073276 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1046T>A (p.Val349Asp) c.1058T>A (p.Val353Asp) c.1052T>A (p.Val351Asp) c.1055T>A (p.Val352Asp) c.251T>A (p.Val84Asp) | |
| 2 | g.233767907T>C | CA351073277 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1046T>C (p.Val349Ala) c.1058T>C (p.Val353Ala) c.1052T>C (p.Val351Ala) c.1055T>C (p.Val352Ala) c.251T>C (p.Val84Ala) | dbSNP |
| 2 | g.233767907T>G | CA351073278 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1046T>G (p.Val349Gly) c.1058T>G (p.Val353Gly) c.1052T>G (p.Val351Gly) c.1055T>G (p.Val352Gly) c.251T>G (p.Val84Gly) | |
| 2 | g.233767907T= | CA1335895099 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1046T= (p.Val349=) c.1058T= (p.Val353=) c.1052T= (p.Val351=) c.1055T= (p.Val352=) c.251T= (p.Val84=) | |
| 2 | g.233767908T>A | CA431857741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1047T>A (p.Val349=) c.1059T>A (p.Val353=) c.1053T>A (p.Val351=) c.1056T>A (p.Val352=) c.252T>A (p.Val84=) | |
| 2 | g.233767908T>C | CA431857740 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1047T>C (p.Val349=) c.1059T>C (p.Val353=) c.1053T>C (p.Val351=) c.1056T>C (p.Val352=) c.252T>C (p.Val84=) | gnomAD v4 |
| 2 | g.233767908T>G | CA431857737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1047T>G (p.Val349=) c.1059T>G (p.Val353=) c.1053T>G (p.Val351=) c.1056T>G (p.Val352=) c.252T>G (p.Val84=) | gnomAD v4 |
| 2 | g.233767909A>C | CA351073280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1048A>C (p.Lys350Gln) c.1060A>C (p.Lys354Gln) c.1054A>C (p.Lys352Gln) c.1057A>C (p.Lys353Gln) c.253A>C (p.Lys85Gln) | |
| 2 | g.233767909A>G | CA351073283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1048A>G (p.Lys350Glu) c.1060A>G (p.Lys354Glu) c.1054A>G (p.Lys352Glu) c.1057A>G (p.Lys353Glu) c.253A>G (p.Lys85Glu) | |
| 2 | g.233767909A>T | CA351073285 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1048A>T (p.Lys350Ter) c.1060A>T (p.Lys354Ter) c.1054A>T (p.Lys352Ter) c.1057A>T (p.Lys353Ter) c.253A>T (p.Lys85Ter) | |
| 2 | g.233767910A>C | CA351073291 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1049A>C (p.Lys350Thr) c.1061A>C (p.Lys354Thr) c.1055A>C (p.Lys352Thr) c.1058A>C (p.Lys353Thr) c.254A>C (p.Lys85Thr) | |
| 2 | g.233767910A>G | CA351073289 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1049A>G (p.Lys350Arg) c.1061A>G (p.Lys354Arg) c.1055A>G (p.Lys352Arg) c.1058A>G (p.Lys353Arg) c.254A>G (p.Lys85Arg) | |
| 2 | g.233767910A>T | CA351073290 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1049A>T (p.Lys350Met) c.1061A>T (p.Lys354Met) c.1055A>T (p.Lys352Met) c.1058A>T (p.Lys353Met) c.254A>T (p.Lys85Met) | |
| 2 | g.233767911G>A | CA2179979 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1050G>A (p.Lys350=) c.1062G>A (p.Lys354=) c.1056G>A (p.Lys352=) c.1059G>A (p.Lys353=) c.255G>A (p.Lys85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767911G>C | CA351073295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1050G>C (p.Lys350Asn) c.1062G>C (p.Lys354Asn) c.1056G>C (p.Lys352Asn) c.1059G>C (p.Lys353Asn) c.255G>C (p.Lys85Asn) | |
| 2 | g.233767911G= | CA1335895100 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1050G= (p.Lys350=) c.1062G= (p.Lys354=) c.1056G= (p.Lys352=) c.1059G= (p.Lys353=) c.255G= (p.Lys85=) | |
| 2 | g.233767911G>T | CA351073298 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1050G>T (p.Lys350Asn) c.1062G>T (p.Lys354Asn) c.1056G>T (p.Lys352Asn) c.1059G>T (p.Lys353Asn) c.255G>T (p.Lys85Asn) | |
| 2 | g.233767912T>A | CA351073300 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1051T>A (p.Trp351Arg) c.1063T>A (p.Trp355Arg) c.1057T>A (p.Trp353Arg) c.1060T>A (p.Trp354Arg) c.256T>A (p.Trp86Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.233767912T>C | CA351073306 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1051T>C (p.Trp351Arg) c.1063T>C (p.Trp355Arg) c.1057T>C (p.Trp353Arg) c.1060T>C (p.Trp354Arg) c.256T>C (p.Trp86Arg) | |
| 2 | g.233767912T>G | CA351073312 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1051T>G (p.Trp351Gly) c.1063T>G (p.Trp355Gly) c.1057T>G (p.Trp353Gly) c.1060T>G (p.Trp354Gly) c.256T>G (p.Trp86Gly) | ClinVar |
| 2 | g.233767912T= | CA1335895101 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1051T= (p.Trp351=) c.1063T= (p.Trp355=) c.1057T= (p.Trp353=) c.1060T= (p.Trp354=) c.256T= (p.Trp86=) | |
| 2 | g.233767913G>A | CA351073319 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1052G>A (p.Trp351Ter) c.1064G>A (p.Trp355Ter) c.1058G>A (p.Trp353Ter) c.1061G>A (p.Trp354Ter) c.257G>A (p.Trp86Ter) | |
| 2 | g.233767913G>C | CA351073321 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1052G>C (p.Trp351Ser) c.1064G>C (p.Trp355Ser) c.1058G>C (p.Trp353Ser) c.1061G>C (p.Trp354Ser) c.257G>C (p.Trp86Ser) | |
| 2 | g.233767913G>T | CA351073326 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1052G>T (p.Trp351Leu) c.1064G>T (p.Trp355Leu) c.1058G>T (p.Trp353Leu) c.1061G>T (p.Trp354Leu) c.257G>T (p.Trp86Leu) | |
| 2 | g.233767914G>A | CA351073327 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1053G>A (p.Trp351Ter) c.1065G>A (p.Trp355Ter) c.1059G>A (p.Trp353Ter) c.1062G>A (p.Trp354Ter) c.258G>A (p.Trp86Ter) | |
| 2 | g.233767914G>C | CA351073328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1053G>C (p.Trp351Cys) c.1065G>C (p.Trp355Cys) c.1059G>C (p.Trp353Cys) c.1062G>C (p.Trp354Cys) c.258G>C (p.Trp86Cys) | |
| 2 | g.233767914G>T | CA351073329 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1053G>T (p.Trp351Cys) c.1065G>T (p.Trp355Cys) c.1059G>T (p.Trp353Cys) c.1062G>T (p.Trp354Cys) c.258G>T (p.Trp86Cys) | |
| 2 | g.233767915C>A | CA351073332 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1054C>A (p.Leu352Ile) c.1066C>A (p.Leu356Ile) c.1060C>A (p.Leu354Ile) c.1063C>A (p.Leu355Ile) c.259C>A (p.Leu87Ile) | |
| 2 | g.233767915C>G | CA351073335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1054C>G (p.Leu352Val) c.1066C>G (p.Leu356Val) c.1060C>G (p.Leu354Val) c.1063C>G (p.Leu355Val) c.259C>G (p.Leu87Val) | |
| 2 | g.233767915C>T | CA431857770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1054C>T (p.Leu352=) c.1066C>T (p.Leu356=) c.1060C>T (p.Leu354=) c.1063C>T (p.Leu355=) c.259C>T (p.Leu87=) | |
| 2 | g.233767916T>A | CA351073339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1055T>A (p.Leu352Gln) c.1067T>A (p.Leu356Gln) c.1061T>A (p.Leu354Gln) c.1064T>A (p.Leu355Gln) c.260T>A (p.Leu87Gln) | dbSNP gnomAD v4 |
| 2 | g.233767916T>C | CA351073348 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1055T>C (p.Leu352Pro) c.1067T>C (p.Leu356Pro) c.1061T>C (p.Leu354Pro) c.1064T>C (p.Leu355Pro) c.260T>C (p.Leu87Pro) | |
| 2 | g.233767916T>G | CA351073344 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1055T>G (p.Leu352Arg) c.1067T>G (p.Leu356Arg) c.1061T>G (p.Leu354Arg) c.1064T>G (p.Leu355Arg) c.260T>G (p.Leu87Arg) | |
| 2 | g.233767916T= | CA1335895102 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1055T= (p.Leu352=) c.1067T= (p.Leu356=) c.1061T= (p.Leu354=) c.1064T= (p.Leu355=) c.260T= (p.Leu87=) | |
| 2 | g.233767917A= | CA1335895103 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1056A= (p.Leu352=) c.1068A= (p.Leu356=) c.1062A= (p.Leu354=) c.1065A= (p.Leu355=) c.261A= (p.Leu87=) | |
| 2 | g.233767917A>C | CA431857778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1056A>C (p.Leu352=) c.1068A>C (p.Leu356=) c.1062A>C (p.Leu354=) c.1065A>C (p.Leu355=) c.261A>C (p.Leu87=) | |
| 2 | g.233767917A>G | CA2179980 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1056A>G (p.Leu352=) c.1068A>G (p.Leu356=) c.1062A>G (p.Leu354=) c.1065A>G (p.Leu355=) c.261A>G (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767917A>T | CA431857773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1056A>T (p.Leu352=) c.1068A>T (p.Leu356=) c.1062A>T (p.Leu354=) c.1065A>T (p.Leu355=) c.261A>T (p.Leu87=) | |
| 2 | g.233767918C>A | CA2179981 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1057C>A (p.Pro353Thr) c.1069C>A (p.Pro357Thr) c.1063C>A (p.Pro355Thr) c.1066C>A (p.Pro356Thr) c.262C>A (p.Pro88Thr) | dbSNP ExAC gnomAD v2 |
| 2 | g.233767918C= | CA1335895104 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1057C= (p.Pro353=) c.1069C= (p.Pro357=) c.1063C= (p.Pro355=) c.1066C= (p.Pro356=) c.262C= (p.Pro88=) | |
| 2 | g.233767918C>G | CA351073354 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1057C>G (p.Pro353Ala) c.1069C>G (p.Pro357Ala) c.1063C>G (p.Pro355Ala) c.1066C>G (p.Pro356Ala) c.262C>G (p.Pro88Ala) | |
| 2 | g.233767918C>T | CA351073356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1057C>T (p.Pro353Ser) c.1069C>T (p.Pro357Ser) c.1063C>T (p.Pro355Ser) c.1066C>T (p.Pro356Ser) c.262C>T (p.Pro88Ser) | |
| 2 | g.233767921dup | CA2586965621 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060dup (p.Gln354ProfsTer24) c.1072dup (p.Gln358ProfsTer24) c.1066dup (p.Gln356ProfsTer24) c.1069dup (p.Gln357ProfsTer24) c.265dup (p.Gln89ProfsTer24) | |
| 2 | g.233767919C>A | CA351073360 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1058C>A (p.Pro353His) c.1070C>A (p.Pro357His) c.1064C>A (p.Pro355His) c.1067C>A (p.Pro356His) c.263C>A (p.Pro88His) | |
| 2 | g.233767919C>G | CA351073361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1058C>G (p.Pro353Arg) c.1070C>G (p.Pro357Arg) c.1064C>G (p.Pro355Arg) c.1067C>G (p.Pro356Arg) c.263C>G (p.Pro88Arg) | |
| 2 | g.233767919C>T | CA351073362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1058C>T (p.Pro353Leu) c.1070C>T (p.Pro357Leu) c.1064C>T (p.Pro355Leu) c.1067C>T (p.Pro356Leu) c.263C>T (p.Pro88Leu) | |
| 2 | g.233767920C>A | CA2179982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1059C>A (p.Pro353=) c.1071C>A (p.Pro357=) c.1065C>A (p.Pro355=) c.1068C>A (p.Pro356=) c.264C>A (p.Pro88=) | dbSNP ExAC gnomAD v2 |
| 2 | g.233767920C= | CA1335895105 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1059C= (p.Pro353=) c.1071C= (p.Pro357=) c.1065C= (p.Pro355=) c.1068C= (p.Pro356=) c.264C= (p.Pro88=) | |
| 2 | g.233767920C>G | CA431857792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1059C>G (p.Pro353=) c.1071C>G (p.Pro357=) c.1065C>G (p.Pro355=) c.1068C>G (p.Pro356=) c.264C>G (p.Pro88=) | |
| 2 | g.233767920C>T | CA431857796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1059C>T (p.Pro353=) c.1071C>T (p.Pro357=) c.1065C>T (p.Pro355=) c.1068C>T (p.Pro356=) c.264C>T (p.Pro88=) | |
| 2 | g.233767921C>A | CA351073366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C>A (p.Gln354Lys) c.1072C>A (p.Gln358Lys) c.1066C>A (p.Gln356Lys) c.1069C>A (p.Gln357Lys) c.265C>A (p.Gln89Lys) | |
| 2 | g.233767921C= | CA1335895106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C= (p.Gln354=) c.1072C= (p.Gln358=) c.1066C= (p.Gln356=) c.1069C= (p.Gln357=) c.265C= (p.Gln89=) | |
| 2 | g.233767921C>G | CA351073367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C>G (p.Gln354Glu) c.1072C>G (p.Gln358Glu) c.1066C>G (p.Gln356Glu) c.1069C>G (p.Gln357Glu) c.265C>G (p.Gln89Glu) | |
| 2 | g.233767921C>T | CA10605065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C>T (p.Gln354Ter) c.1072C>T (p.Gln358Ter) c.1066C>T (p.Gln356Ter) c.1069C>T (p.Gln357Ter) c.265C>T (p.Gln89Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |