Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760696A= | CA1335889347 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A= (n.856-6338A=) c.868-6338A= (n.868-6338A=) c.862-6338A= (n.862-6338A=) c.409A= (p.Met137=) c.61-6338A= (n.61-6338A=) c.442-6338A= (n.442-6338A=) | |
2 | g.233760696A>C | CA351066611 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>C (n.856-6338A>C) c.868-6338A>C (n.868-6338A>C) c.862-6338A>C (n.862-6338A>C) c.409A>C (p.Met137Leu) c.61-6338A>C (n.61-6338A>C) c.442-6338A>C (n.442-6338A>C) | dbSNP gnomAD v4 |
2 | g.233760696A>G | CA351066613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>G (n.856-6338A>G) c.868-6338A>G (n.868-6338A>G) c.862-6338A>G (n.862-6338A>G) c.409A>G (p.Met137Val) c.61-6338A>G (n.61-6338A>G) c.442-6338A>G (n.442-6338A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760696A>T | CA351066612 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6338A>T (n.856-6338A>T) c.868-6338A>T (n.868-6338A>T) c.862-6338A>T (n.862-6338A>T) c.409A>T (p.Met137Leu) c.61-6338A>T (n.61-6338A>T) c.442-6338A>T (n.442-6338A>T) | |
2 | g.233760697T>A | CA351066614 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>A (n.856-6337T>A) c.868-6337T>A (n.868-6337T>A) c.862-6337T>A (n.862-6337T>A) c.410T>A (p.Met137Lys) c.61-6337T>A (n.61-6337T>A) c.442-6337T>A (n.442-6337T>A) | |
2 | g.233760697T>C | CA351066615 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>C (n.856-6337T>C) c.868-6337T>C (n.868-6337T>C) c.862-6337T>C (n.862-6337T>C) c.410T>C (p.Met137Thr) c.61-6337T>C (n.61-6337T>C) c.442-6337T>C (n.442-6337T>C) | dbSNP gnomAD v4 |
2 | g.233760697T>G | CA351066616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T>G (n.856-6337T>G) c.868-6337T>G (n.868-6337T>G) c.862-6337T>G (n.862-6337T>G) c.410T>G (p.Met137Arg) c.61-6337T>G (n.61-6337T>G) c.442-6337T>G (n.442-6337T>G) | |
2 | g.233760697T= | CA1335889349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6337T= (n.856-6337T=) c.868-6337T= (n.868-6337T=) c.862-6337T= (n.862-6337T=) c.410T= (p.Met137=) c.61-6337T= (n.61-6337T=) c.442-6337T= (n.442-6337T=) | |
2 | g.233760698G>A | CA351066617 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>A (n.856-6336G>A) c.868-6336G>A (n.868-6336G>A) c.862-6336G>A (n.862-6336G>A) c.411G>A (p.Met137Ile) c.61-6336G>A (n.61-6336G>A) c.442-6336G>A (n.442-6336G>A) | |
2 | g.233760698G>C | CA351066618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>C (n.856-6336G>C) c.868-6336G>C (n.868-6336G>C) c.862-6336G>C (n.862-6336G>C) c.411G>C (p.Met137Ile) c.61-6336G>C (n.61-6336G>C) c.442-6336G>C (n.442-6336G>C) | |
2 | g.233760698G>T | CA351066619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6336G>T (n.856-6336G>T) c.868-6336G>T (n.868-6336G>T) c.862-6336G>T (n.862-6336G>T) c.411G>T (p.Met137Ile) c.61-6336G>T (n.61-6336G>T) c.442-6336G>T (n.442-6336G>T) | |
2 | g.233760699G>A | CA351066620 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>A (n.856-6335G>A) c.868-6335G>A (n.868-6335G>A) c.862-6335G>A (n.862-6335G>A) c.412G>A (p.Ala138Thr) c.61-6335G>A (n.61-6335G>A) c.442-6335G>A (n.442-6335G>A) | |
2 | g.233760699G>C | CA351066621 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>C (n.856-6335G>C) c.868-6335G>C (n.868-6335G>C) c.862-6335G>C (n.862-6335G>C) c.412G>C (p.Ala138Pro) c.61-6335G>C (n.61-6335G>C) c.442-6335G>C (n.442-6335G>C) | |
2 | g.233760699G>T | CA351066622 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6335G>T (n.856-6335G>T) c.868-6335G>T (n.868-6335G>T) c.862-6335G>T (n.862-6335G>T) c.412G>T (p.Ala138Ser) c.61-6335G>T (n.61-6335G>T) c.442-6335G>T (n.442-6335G>T) | |
2 | g.233760700C>A | CA351066623 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>A (n.856-6334C>A) c.868-6334C>A (n.868-6334C>A) c.862-6334C>A (n.862-6334C>A) c.413C>A (p.Ala138Asp) c.61-6334C>A (n.61-6334C>A) c.442-6334C>A (n.442-6334C>A) | |
2 | g.233760700C>G | CA351066624 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>G (n.856-6334C>G) c.868-6334C>G (n.868-6334C>G) c.862-6334C>G (n.862-6334C>G) c.413C>G (p.Ala138Gly) c.61-6334C>G (n.61-6334C>G) c.442-6334C>G (n.442-6334C>G) | |
2 | g.233760700C>T | CA351066625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6334C>T (n.856-6334C>T) c.868-6334C>T (n.868-6334C>T) c.862-6334C>T (n.862-6334C>T) c.413C>T (p.Ala138Val) c.61-6334C>T (n.61-6334C>T) c.442-6334C>T (n.442-6334C>T) | gnomAD v4 |
2 | g.233760701C>A | CA431960412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>A (n.856-6333C>A) c.868-6333C>A (n.868-6333C>A) c.862-6333C>A (n.862-6333C>A) c.414C>A (p.Ala138=) c.61-6333C>A (n.61-6333C>A) c.442-6333C>A (n.442-6333C>A) | |
2 | g.233760701C= | CA1335889353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C= (n.856-6333C=) c.868-6333C= (n.868-6333C=) c.862-6333C= (n.862-6333C=) c.414C= (p.Ala138=) c.61-6333C= (n.61-6333C=) c.442-6333C= (n.442-6333C=) | |
2 | g.233760701C>G | CA2179822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>G (n.856-6333C>G) c.868-6333C>G (n.868-6333C>G) c.862-6333C>G (n.862-6333C>G) c.414C>G (p.Ala138=) c.61-6333C>G (n.61-6333C>G) c.442-6333C>G (n.442-6333C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760701C>T | CA431960413 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6333C>T (n.856-6333C>T) c.868-6333C>T (n.868-6333C>T) c.862-6333C>T (n.862-6333C>T) c.414C>T (p.Ala138=) c.61-6333C>T (n.61-6333C>T) c.442-6333C>T (n.442-6333C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760702T>A | CA351066626 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>A (n.856-6332T>A) c.868-6332T>A (n.868-6332T>A) c.862-6332T>A (n.862-6332T>A) c.415T>A (p.Ser139Thr) c.61-6332T>A (n.61-6332T>A) c.442-6332T>A (n.442-6332T>A) | |
2 | g.233760702T>C | CA351066627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>C (n.856-6332T>C) c.868-6332T>C (n.868-6332T>C) c.862-6332T>C (n.862-6332T>C) c.415T>C (p.Ser139Pro) c.61-6332T>C (n.61-6332T>C) c.442-6332T>C (n.442-6332T>C) | |
2 | g.233760702T>G | CA351066628 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6332T>G (n.856-6332T>G) c.868-6332T>G (n.868-6332T>G) c.862-6332T>G (n.862-6332T>G) c.415T>G (p.Ser139Ala) c.61-6332T>G (n.61-6332T>G) c.442-6332T>G (n.442-6332T>G) | |
2 | g.233760703C>A | CA351066629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>A (n.856-6331C>A) c.868-6331C>A (n.868-6331C>A) c.862-6331C>A (n.862-6331C>A) c.416C>A (p.Ser139Tyr) c.61-6331C>A (n.61-6331C>A) c.442-6331C>A (n.442-6331C>A) | |
2 | g.233760703C>G | CA351066630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>G (n.856-6331C>G) c.868-6331C>G (n.868-6331C>G) c.862-6331C>G (n.862-6331C>G) c.416C>G (p.Ser139Cys) c.61-6331C>G (n.61-6331C>G) c.442-6331C>G (n.442-6331C>G) | |
2 | g.233760703C>T | CA351066631 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6331C>T (n.856-6331C>T) c.868-6331C>T (n.868-6331C>T) c.862-6331C>T (n.862-6331C>T) c.416C>T (p.Ser139Phe) c.61-6331C>T (n.61-6331C>T) c.442-6331C>T (n.442-6331C>T) | gnomAD v4 |
2 | g.233760705del | CA2582342832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329del (n.856-6329del) c.868-6329del (n.868-6329del) c.862-6329del (n.862-6329del) c.418del (p.Leu140TrpfsTer10) c.61-6329del (n.61-6329del) c.442-6329del (n.442-6329del) | ClinVar |
2 | g.233760704C>A | CA431960416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>A (n.856-6330C>A) c.868-6330C>A (n.868-6330C>A) c.862-6330C>A (n.862-6330C>A) c.417C>A (p.Ser139=) c.61-6330C>A (n.61-6330C>A) c.442-6330C>A (n.442-6330C>A) | |
2 | g.233760704C>G | CA431960415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>G (n.856-6330C>G) c.868-6330C>G (n.868-6330C>G) c.862-6330C>G (n.862-6330C>G) c.417C>G (p.Ser139=) c.61-6330C>G (n.61-6330C>G) c.442-6330C>G (n.442-6330C>G) | |
2 | g.233760704C>T | CA431960414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6330C>T (n.856-6330C>T) c.868-6330C>T (n.868-6330C>T) c.862-6330C>T (n.862-6330C>T) c.417C>T (p.Ser139=) c.61-6330C>T (n.61-6330C>T) c.442-6330C>T (n.442-6330C>T) | |
2 | g.233760705C>A | CA351066632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>A (n.856-6329C>A) c.868-6329C>A (n.868-6329C>A) c.862-6329C>A (n.862-6329C>A) c.418C>A (p.Leu140Met) c.61-6329C>A (n.61-6329C>A) c.442-6329C>A (n.442-6329C>A) | |
2 | g.233760705C>G | CA351066633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>G (n.856-6329C>G) c.868-6329C>G (n.868-6329C>G) c.862-6329C>G (n.862-6329C>G) c.418C>G (p.Leu140Val) c.61-6329C>G (n.61-6329C>G) c.442-6329C>G (n.442-6329C>G) | |
2 | g.233760705C>T | CA431960417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6329C>T (n.856-6329C>T) c.868-6329C>T (n.868-6329C>T) c.862-6329C>T (n.862-6329C>T) c.418C>T (p.Leu140=) c.61-6329C>T (n.61-6329C>T) c.442-6329C>T (n.442-6329C>T) | gnomAD v4 |
2 | g.233760706T>A | CA351066634 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>A (n.856-6328T>A) c.868-6328T>A (n.868-6328T>A) c.862-6328T>A (n.862-6328T>A) c.419T>A (p.Leu140Gln) c.61-6328T>A (n.61-6328T>A) c.442-6328T>A (n.442-6328T>A) | |
2 | g.233760706T>C | CA351066635 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>C (n.856-6328T>C) c.868-6328T>C (n.868-6328T>C) c.862-6328T>C (n.862-6328T>C) c.419T>C (p.Leu140Pro) c.61-6328T>C (n.61-6328T>C) c.442-6328T>C (n.442-6328T>C) | |
2 | g.233760706T>G | CA351066636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T>G (n.856-6328T>G) c.868-6328T>G (n.868-6328T>G) c.862-6328T>G (n.862-6328T>G) c.419T>G (p.Leu140Arg) c.61-6328T>G (n.61-6328T>G) c.442-6328T>G (n.442-6328T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760706T= | CA1335889354 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6328T= (n.856-6328T=) c.868-6328T= (n.868-6328T=) c.862-6328T= (n.862-6328T=) c.419T= (p.Leu140=) c.61-6328T= (n.61-6328T=) c.442-6328T= (n.442-6328T=) | |
2 | g.233760707G>A | CA67589934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>A (n.856-6327G>A) c.868-6327G>A (n.868-6327G>A) c.862-6327G>A (n.862-6327G>A) c.420G>A (p.Leu140=) c.61-6327G>A (n.61-6327G>A) c.442-6327G>A (n.442-6327G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760707G>C | CA431960419 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>C (n.856-6327G>C) c.868-6327G>C (n.868-6327G>C) c.862-6327G>C (n.862-6327G>C) c.420G>C (p.Leu140=) c.61-6327G>C (n.61-6327G>C) c.442-6327G>C (n.442-6327G>C) | |
2 | g.233760707G= | CA1335889356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G= (n.856-6327G=) c.868-6327G= (n.868-6327G=) c.862-6327G= (n.862-6327G=) c.420G= (p.Leu140=) c.61-6327G= (n.61-6327G=) c.442-6327G= (n.442-6327G=) | |
2 | g.233760707G>T | CA431960418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6327G>T (n.856-6327G>T) c.868-6327G>T (n.868-6327G>T) c.862-6327G>T (n.862-6327G>T) c.420G>T (p.Leu140=) c.61-6327G>T (n.61-6327G>T) c.442-6327G>T (n.442-6327G>T) | |
2 | g.233760708G>A | CA351066637 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>A (n.856-6326G>A) c.868-6326G>A (n.868-6326G>A) c.862-6326G>A (n.862-6326G>A) c.421G>A (p.Ala141Thr) c.61-6326G>A (n.61-6326G>A) c.442-6326G>A (n.442-6326G>A) | gnomAD v4 |
2 | g.233760708G>C | CA351066638 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>C (n.856-6326G>C) c.868-6326G>C (n.868-6326G>C) c.862-6326G>C (n.862-6326G>C) c.421G>C (p.Ala141Pro) c.61-6326G>C (n.61-6326G>C) c.442-6326G>C (n.442-6326G>C) | |
2 | g.233760708G>T | CA351066639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6326G>T (n.856-6326G>T) c.868-6326G>T (n.868-6326G>T) c.862-6326G>T (n.862-6326G>T) c.421G>T (p.Ala141Ser) c.61-6326G>T (n.61-6326G>T) c.442-6326G>T (n.442-6326G>T) | |
2 | g.233760709C>A | CA2179823 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>A (n.856-6325C>A) c.868-6325C>A (n.868-6325C>A) c.862-6325C>A (n.862-6325C>A) c.422C>A (p.Ala141Glu) c.61-6325C>A (n.61-6325C>A) c.442-6325C>A (n.442-6325C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760709C= | CA1335889359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C= (n.856-6325C=) c.868-6325C= (n.868-6325C=) c.862-6325C= (n.862-6325C=) c.422C= (p.Ala141=) c.61-6325C= (n.61-6325C=) c.442-6325C= (n.442-6325C=) | |
2 | g.233760709C>G | CA351066641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>G (n.856-6325C>G) c.868-6325C>G (n.868-6325C>G) c.862-6325C>G (n.862-6325C>G) c.422C>G (p.Ala141Gly) c.61-6325C>G (n.61-6325C>G) c.442-6325C>G (n.442-6325C>G) | |
2 | g.233760709C>T | CA351066640 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6325C>T (n.856-6325C>T) c.868-6325C>T (n.868-6325C>T) c.862-6325C>T (n.862-6325C>T) c.422C>T (p.Ala141Val) c.61-6325C>T (n.61-6325C>T) c.442-6325C>T (n.442-6325C>T) | |
2 | g.233760710A>C | CA431960420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>C (n.856-6324A>C) c.868-6324A>C (n.868-6324A>C) c.862-6324A>C (n.862-6324A>C) c.423A>C (p.Ala141=) c.61-6324A>C (n.61-6324A>C) c.442-6324A>C (n.442-6324A>C) | |
2 | g.233760710A>G | CA431960422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>G (n.856-6324A>G) c.868-6324A>G (n.868-6324A>G) c.862-6324A>G (n.862-6324A>G) c.423A>G (p.Ala141=) c.61-6324A>G (n.61-6324A>G) c.442-6324A>G (n.442-6324A>G) | |
2 | g.233760710A>T | CA431960421 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6324A>T (n.856-6324A>T) c.868-6324A>T (n.868-6324A>T) c.862-6324A>T (n.862-6324A>T) c.423A>T (p.Ala141=) c.61-6324A>T (n.61-6324A>T) c.442-6324A>T (n.442-6324A>T) | |
2 | g.233760711G>A | CA351066642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>A (n.856-6323G>A) c.868-6323G>A (n.868-6323G>A) c.862-6323G>A (n.862-6323G>A) c.424G>A (p.Glu142Lys) c.61-6323G>A (n.61-6323G>A) c.442-6323G>A (n.442-6323G>A) | |
2 | g.233760711G>C | CA351066643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>C (n.856-6323G>C) c.868-6323G>C (n.868-6323G>C) c.862-6323G>C (n.862-6323G>C) c.424G>C (p.Glu142Gln) c.61-6323G>C (n.61-6323G>C) c.442-6323G>C (n.442-6323G>C) | |
2 | g.233760711G>T | CA351066644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6323G>T (n.856-6323G>T) c.868-6323G>T (n.868-6323G>T) c.862-6323G>T (n.862-6323G>T) c.424G>T (p.Glu142Ter) c.61-6323G>T (n.61-6323G>T) c.442-6323G>T (n.442-6323G>T) | |
2 | g.233760712A>C | CA351066645 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>C (n.856-6322A>C) c.868-6322A>C (n.868-6322A>C) c.862-6322A>C (n.862-6322A>C) c.425A>C (p.Glu142Ala) c.61-6322A>C (n.61-6322A>C) c.442-6322A>C (n.442-6322A>C) | |
2 | g.233760712A>G | CA351066646 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>G (n.856-6322A>G) c.868-6322A>G (n.868-6322A>G) c.862-6322A>G (n.862-6322A>G) c.425A>G (p.Glu142Gly) c.61-6322A>G (n.61-6322A>G) c.442-6322A>G (n.442-6322A>G) | |
2 | g.233760712A>T | CA351066647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6322A>T (n.856-6322A>T) c.868-6322A>T (n.868-6322A>T) c.862-6322A>T (n.862-6322A>T) c.425A>T (p.Glu142Val) c.61-6322A>T (n.61-6322A>T) c.442-6322A>T (n.442-6322A>T) | |
2 | g.233760713A= | CA1335889362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A= (n.856-6321A=) c.868-6321A= (n.868-6321A=) c.862-6321A= (n.862-6321A=) c.426A= (p.Glu142=) c.61-6321A= (n.61-6321A=) c.442-6321A= (n.442-6321A=) | |
2 | g.233760713A>C | CA351066648 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>C (n.856-6321A>C) c.868-6321A>C (n.868-6321A>C) c.862-6321A>C (n.862-6321A>C) c.426A>C (p.Glu142Asp) c.61-6321A>C (n.61-6321A>C) c.442-6321A>C (n.442-6321A>C) | |
2 | g.233760713A>G | CA431960423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>G (n.856-6321A>G) c.868-6321A>G (n.868-6321A>G) c.862-6321A>G (n.862-6321A>G) c.426A>G (p.Glu142=) c.61-6321A>G (n.61-6321A>G) c.442-6321A>G (n.442-6321A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760713A>T | CA351066649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6321A>T (n.856-6321A>T) c.868-6321A>T (n.868-6321A>T) c.862-6321A>T (n.862-6321A>T) c.426A>T (p.Glu142Asp) c.61-6321A>T (n.61-6321A>T) c.442-6321A>T (n.442-6321A>T) | |
2 | g.233760714A>C | CA351066650 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>C (n.856-6320A>C) c.868-6320A>C (n.868-6320A>C) c.862-6320A>C (n.862-6320A>C) c.427A>C (p.Ser143Arg) c.61-6320A>C (n.61-6320A>C) c.442-6320A>C (n.442-6320A>C) | |
2 | g.233760714A>G | CA351066651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>G (n.856-6320A>G) c.868-6320A>G (n.868-6320A>G) c.862-6320A>G (n.862-6320A>G) c.427A>G (p.Ser143Gly) c.61-6320A>G (n.61-6320A>G) c.442-6320A>G (n.442-6320A>G) | gnomAD v4 |
2 | g.233760714A>T | CA351066652 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6320A>T (n.856-6320A>T) c.868-6320A>T (n.868-6320A>T) c.862-6320A>T (n.862-6320A>T) c.427A>T (p.Ser143Cys) c.61-6320A>T (n.61-6320A>T) c.442-6320A>T (n.442-6320A>T) | |
2 | g.233760715G>A | CA351066653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>A (n.856-6319G>A) c.868-6319G>A (n.868-6319G>A) c.862-6319G>A (n.862-6319G>A) c.428G>A (p.Ser143Asn) c.61-6319G>A (n.61-6319G>A) c.442-6319G>A (n.442-6319G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.233760715G>C | CA351066654 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>C (n.856-6319G>C) c.868-6319G>C (n.868-6319G>C) c.862-6319G>C (n.862-6319G>C) c.428G>C (p.Ser143Thr) c.61-6319G>C (n.61-6319G>C) c.442-6319G>C (n.442-6319G>C) | |
2 | g.233760715G= | CA1335889365 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G= (n.856-6319G=) c.868-6319G= (n.868-6319G=) c.862-6319G= (n.862-6319G=) c.428G= (p.Ser143=) c.61-6319G= (n.61-6319G=) c.442-6319G= (n.442-6319G=) | |
2 | g.233760715G>T | CA351066655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6319G>T (n.856-6319G>T) c.868-6319G>T (n.868-6319G>T) c.862-6319G>T (n.862-6319G>T) c.428G>T (p.Ser143Ile) c.61-6319G>T (n.61-6319G>T) c.442-6319G>T (n.442-6319G>T) | |
2 | g.233760716C>A | CA351066656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>A (n.856-6318C>A) c.868-6318C>A (n.868-6318C>A) c.862-6318C>A (n.862-6318C>A) c.429C>A (p.Ser143Arg) c.61-6318C>A (n.61-6318C>A) c.442-6318C>A (n.442-6318C>A) | COSMIC COSMIC |
2 | g.233760716C= | CA1335889367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C= (n.856-6318C=) c.868-6318C= (n.868-6318C=) c.862-6318C= (n.862-6318C=) c.429C= (p.Ser143=) c.61-6318C= (n.61-6318C=) c.442-6318C= (n.442-6318C=) | |
2 | g.233760716C>G | CA351066657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>G (n.856-6318C>G) c.868-6318C>G (n.868-6318C>G) c.862-6318C>G (n.862-6318C>G) c.429C>G (p.Ser143Arg) c.61-6318C>G (n.61-6318C>G) c.442-6318C>G (n.442-6318C>G) | |
2 | g.233760716C>T | CA431960424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6318C>T (n.856-6318C>T) c.868-6318C>T (n.868-6318C>T) c.862-6318C>T (n.862-6318C>T) c.429C>T (p.Ser143=) c.61-6318C>T (n.61-6318C>T) c.442-6318C>T (n.442-6318C>T) | dbSNP gnomAD v4 |
2 | g.233760717A>C | CA351066658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>C (n.856-6317A>C) c.868-6317A>C (n.868-6317A>C) c.862-6317A>C (n.862-6317A>C) c.430A>C (p.Ser144Arg) c.61-6317A>C (n.61-6317A>C) c.442-6317A>C (n.442-6317A>C) | |
2 | g.233760717A>G | CA351066659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>G (n.856-6317A>G) c.868-6317A>G (n.868-6317A>G) c.862-6317A>G (n.862-6317A>G) c.430A>G (p.Ser144Gly) c.61-6317A>G (n.61-6317A>G) c.442-6317A>G (n.442-6317A>G) | |
2 | g.233760717A>T | CA351066660 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6317A>T (n.856-6317A>T) c.868-6317A>T (n.868-6317A>T) c.862-6317A>T (n.862-6317A>T) c.430A>T (p.Ser144Cys) c.61-6317A>T (n.61-6317A>T) c.442-6317A>T (n.442-6317A>T) | |
2 | g.233760718G>A | CA351066661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>A (n.856-6316G>A) c.868-6316G>A (n.868-6316G>A) c.862-6316G>A (n.862-6316G>A) c.431G>A (p.Ser144Asn) c.61-6316G>A (n.61-6316G>A) c.442-6316G>A (n.442-6316G>A) | |
2 | g.233760718G>C | CA351066662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>C (n.856-6316G>C) c.868-6316G>C (n.868-6316G>C) c.862-6316G>C (n.862-6316G>C) c.431G>C (p.Ser144Thr) c.61-6316G>C (n.61-6316G>C) c.442-6316G>C (n.442-6316G>C) | |
2 | g.233760718G= | CA1335889369 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G= (n.856-6316G=) c.868-6316G= (n.868-6316G=) c.862-6316G= (n.862-6316G=) c.431G= (p.Ser144=) c.61-6316G= (n.61-6316G=) c.442-6316G= (n.442-6316G=) | |
2 | g.233760718G>T | CA351066663 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6316G>T (n.856-6316G>T) c.868-6316G>T (n.868-6316G>T) c.862-6316G>T (n.862-6316G>T) c.431G>T (p.Ser144Ile) c.61-6316G>T (n.61-6316G>T) c.442-6316G>T (n.442-6316G>T) | dbSNP |
2 | g.233760719C>A | CA351066664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>A (n.856-6315C>A) c.868-6315C>A (n.868-6315C>A) c.862-6315C>A (n.862-6315C>A) c.432C>A (p.Ser144Arg) c.61-6315C>A (n.61-6315C>A) c.442-6315C>A (n.442-6315C>A) | gnomAD v4 |
2 | g.233760719C>G | CA351066665 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>G (n.856-6315C>G) c.868-6315C>G (n.868-6315C>G) c.862-6315C>G (n.862-6315C>G) c.432C>G (p.Ser144Arg) c.61-6315C>G (n.61-6315C>G) c.442-6315C>G (n.442-6315C>G) | |
2 | g.233760719C>T | CA431960425 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6315C>T (n.856-6315C>T) c.868-6315C>T (n.868-6315C>T) c.862-6315C>T (n.862-6315C>T) c.432C>T (p.Ser144=) c.61-6315C>T (n.61-6315C>T) c.442-6315C>T (n.442-6315C>T) | |
2 | g.233760720T>A | CA351066666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>A (n.856-6314T>A) c.868-6314T>A (n.868-6314T>A) c.862-6314T>A (n.862-6314T>A) c.433T>A (p.Phe145Ile) c.61-6314T>A (n.61-6314T>A) c.442-6314T>A (n.442-6314T>A) | |
2 | g.233760720T>C | CA351066667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>C (n.856-6314T>C) c.868-6314T>C (n.868-6314T>C) c.862-6314T>C (n.862-6314T>C) c.433T>C (p.Phe145Leu) c.61-6314T>C (n.61-6314T>C) c.442-6314T>C (n.442-6314T>C) | |
2 | g.233760720T>G | CA351066668 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6314T>G (n.856-6314T>G) c.868-6314T>G (n.868-6314T>G) c.862-6314T>G (n.862-6314T>G) c.433T>G (p.Phe145Val) c.61-6314T>G (n.61-6314T>G) c.442-6314T>G (n.442-6314T>G) | COSMIC |
2 | g.233760721T>A | CA351066669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>A (n.856-6313T>A) c.868-6313T>A (n.868-6313T>A) c.862-6313T>A (n.862-6313T>A) c.434T>A (p.Phe145Tyr) c.61-6313T>A (n.61-6313T>A) c.442-6313T>A (n.442-6313T>A) | |
2 | g.233760721T>C | CA351066671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>C (n.856-6313T>C) c.868-6313T>C (n.868-6313T>C) c.862-6313T>C (n.862-6313T>C) c.434T>C (p.Phe145Ser) c.61-6313T>C (n.61-6313T>C) c.442-6313T>C (n.442-6313T>C) | |
2 | g.233760721T>G | CA351066670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6313T>G (n.856-6313T>G) c.868-6313T>G (n.868-6313T>G) c.862-6313T>G (n.862-6313T>G) c.434T>G (p.Phe145Cys) c.61-6313T>G (n.61-6313T>G) c.442-6313T>G (n.442-6313T>G) | |
2 | g.233760722T>A | CA351066672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>A (n.856-6312T>A) c.868-6312T>A (n.868-6312T>A) c.862-6312T>A (n.862-6312T>A) c.435T>A (p.Phe145Leu) c.61-6312T>A (n.61-6312T>A) c.442-6312T>A (n.442-6312T>A) | |
2 | g.233760722T>C | CA431960426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>C (n.856-6312T>C) c.868-6312T>C (n.868-6312T>C) c.862-6312T>C (n.862-6312T>C) c.435T>C (p.Phe145=) c.61-6312T>C (n.61-6312T>C) c.442-6312T>C (n.442-6312T>C) | |
2 | g.233760722T>G | CA351066673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6312T>G (n.856-6312T>G) c.868-6312T>G (n.868-6312T>G) c.862-6312T>G (n.862-6312T>G) c.435T>G (p.Phe145Leu) c.61-6312T>G (n.61-6312T>G) c.442-6312T>G (n.442-6312T>G) | |
2 | g.233760723G>A | CA351066674 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>A (n.856-6311G>A) c.868-6311G>A (n.868-6311G>A) c.862-6311G>A (n.862-6311G>A) c.436G>A (p.Asp146Asn) c.61-6311G>A (n.61-6311G>A) c.442-6311G>A (n.442-6311G>A) | |
2 | g.233760723G>C | CA351066675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>C (n.856-6311G>C) c.868-6311G>C (n.868-6311G>C) c.862-6311G>C (n.862-6311G>C) c.436G>C (p.Asp146His) c.61-6311G>C (n.61-6311G>C) c.442-6311G>C (n.442-6311G>C) | |
2 | g.233760723G>T | CA351066676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6311G>T (n.856-6311G>T) c.868-6311G>T (n.868-6311G>T) c.862-6311G>T (n.862-6311G>T) c.436G>T (p.Asp146Tyr) c.61-6311G>T (n.61-6311G>T) c.442-6311G>T (n.442-6311G>T) | |
2 | g.233760724A>C | CA351066677 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>C (n.856-6310A>C) c.868-6310A>C (n.868-6310A>C) c.862-6310A>C (n.862-6310A>C) c.437A>C (p.Asp146Ala) c.61-6310A>C (n.61-6310A>C) c.442-6310A>C (n.442-6310A>C) | |
2 | g.233760724A>G | CA351066678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>G (n.856-6310A>G) c.868-6310A>G (n.868-6310A>G) c.862-6310A>G (n.862-6310A>G) c.437A>G (p.Asp146Gly) c.61-6310A>G (n.61-6310A>G) c.442-6310A>G (n.442-6310A>G) | |
2 | g.233760724A>T | CA351066679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6310A>T (n.856-6310A>T) c.868-6310A>T (n.868-6310A>T) c.862-6310A>T (n.862-6310A>T) c.437A>T (p.Asp146Val) c.61-6310A>T (n.61-6310A>T) c.442-6310A>T (n.442-6310A>T) | |
2 | g.233760725T>A | CA351066680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>A (n.856-6309T>A) c.868-6309T>A (n.868-6309T>A) c.862-6309T>A (n.862-6309T>A) c.438T>A (p.Asp146Glu) c.61-6309T>A (n.61-6309T>A) c.442-6309T>A (n.442-6309T>A) | |
2 | g.233760725T>C | CA431960427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>C (n.856-6309T>C) c.868-6309T>C (n.868-6309T>C) c.862-6309T>C (n.862-6309T>C) c.438T>C (p.Asp146=) c.61-6309T>C (n.61-6309T>C) c.442-6309T>C (n.442-6309T>C) | |
2 | g.233760725T>G | CA351066681 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6309T>G (n.856-6309T>G) c.868-6309T>G (n.868-6309T>G) c.862-6309T>G (n.862-6309T>G) c.438T>G (p.Asp146Glu) c.61-6309T>G (n.61-6309T>G) c.442-6309T>G (n.442-6309T>G) | |
2 | g.233760726G>A | CA351066682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>A (n.856-6308G>A) c.868-6308G>A (n.868-6308G>A) c.862-6308G>A (n.862-6308G>A) c.439G>A (p.Val147Ile) c.61-6308G>A (n.61-6308G>A) c.442-6308G>A (n.442-6308G>A) | |
2 | g.233760726G>C | CA351066683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>C (n.856-6308G>C) c.868-6308G>C (n.868-6308G>C) c.862-6308G>C (n.862-6308G>C) c.439G>C (p.Val147Leu) c.61-6308G>C (n.61-6308G>C) c.442-6308G>C (n.442-6308G>C) | |
2 | g.233760726G>T | CA351066684 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6308G>T (n.856-6308G>T) c.868-6308G>T (n.868-6308G>T) c.862-6308G>T (n.862-6308G>T) c.439G>T (p.Val147Phe) c.61-6308G>T (n.61-6308G>T) c.442-6308G>T (n.442-6308G>T) | |
2 | g.233760727T>A | CA351066687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>A (n.856-6307T>A) c.868-6307T>A (n.868-6307T>A) c.862-6307T>A (n.862-6307T>A) c.440T>A (p.Val147Asp) c.61-6307T>A (n.61-6307T>A) c.442-6307T>A (n.442-6307T>A) | |
2 | g.233760727T>C | CA351066685 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>C (n.856-6307T>C) c.868-6307T>C (n.868-6307T>C) c.862-6307T>C (n.862-6307T>C) c.440T>C (p.Val147Ala) c.61-6307T>C (n.61-6307T>C) c.442-6307T>C (n.442-6307T>C) | |
2 | g.233760727T>G | CA351066686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6307T>G (n.856-6307T>G) c.868-6307T>G (n.868-6307T>G) c.862-6307T>G (n.862-6307T>G) c.440T>G (p.Val147Gly) c.61-6307T>G (n.61-6307T>G) c.442-6307T>G (n.442-6307T>G) | gnomAD v4 |
2 | g.233760728C>A | CA431960429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>A (n.856-6306C>A) c.868-6306C>A (n.868-6306C>A) c.862-6306C>A (n.862-6306C>A) c.441C>A (p.Val147=) c.61-6306C>A (n.61-6306C>A) c.442-6306C>A (n.442-6306C>A) | COSMIC |
2 | g.233760728C= | CA1335889371 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C= (n.856-6306C=) c.868-6306C= (n.868-6306C=) c.862-6306C= (n.862-6306C=) c.441C= (p.Val147=) c.61-6306C= (n.61-6306C=) c.442-6306C= (n.442-6306C=) | |
2 | g.233760728C>G | CA431960428 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>G (n.856-6306C>G) c.868-6306C>G (n.868-6306C>G) c.862-6306C>G (n.862-6306C>G) c.441C>G (p.Val147=) c.61-6306C>G (n.61-6306C>G) c.442-6306C>G (n.442-6306C>G) | |
2 | g.233760728C>T | CA431960430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6306C>T (n.856-6306C>T) c.868-6306C>T (n.868-6306C>T) c.862-6306C>T (n.862-6306C>T) c.441C>T (p.Val147=) c.61-6306C>T (n.61-6306C>T) c.442-6306C>T (n.442-6306C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760729A= | CA1335889373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A= (n.856-6305A=) c.868-6305A= (n.868-6305A=) c.862-6305A= (n.862-6305A=) c.442A= (p.Met148=) c.61-6305A= (n.61-6305A=) c.442-6305A= (n.442-6305A=) | |
2 | g.233760729A>C | CA351066688 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>C (n.856-6305A>C) c.868-6305A>C (n.868-6305A>C) c.862-6305A>C (n.862-6305A>C) c.442A>C (p.Met148Leu) c.61-6305A>C (n.61-6305A>C) c.442-6305A>C (n.442-6305A>C) | |
2 | g.233760729A>G | CA351066689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>G (n.856-6305A>G) c.868-6305A>G (n.868-6305A>G) c.862-6305A>G (n.862-6305A>G) c.442A>G (p.Met148Val) c.61-6305A>G (n.61-6305A>G) c.442-6305A>G (n.442-6305A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760729A>T | CA351066690 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6305A>T (n.856-6305A>T) c.868-6305A>T (n.868-6305A>T) c.862-6305A>T (n.862-6305A>T) c.442A>T (p.Met148Leu) c.61-6305A>T (n.61-6305A>T) c.442-6305A>T (n.442-6305A>T) | |
2 | g.233760730T>A | CA351066691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>A (n.856-6304T>A) c.868-6304T>A (n.868-6304T>A) c.862-6304T>A (n.862-6304T>A) c.443T>A (p.Met148Lys) c.61-6304T>A (n.61-6304T>A) c.442-6304T>A (n.442-6304T>A) | |
2 | g.233760730T>C | CA351066692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>C (n.856-6304T>C) c.868-6304T>C (n.868-6304T>C) c.862-6304T>C (n.862-6304T>C) c.443T>C (p.Met148Thr) c.61-6304T>C (n.61-6304T>C) c.442-6304T>C (n.442-6304T>C) | |
2 | g.233760730T>G | CA351066693 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6304T>G (n.856-6304T>G) c.868-6304T>G (n.868-6304T>G) c.862-6304T>G (n.862-6304T>G) c.443T>G (p.Met148Arg) c.61-6304T>G (n.61-6304T>G) c.442-6304T>G (n.442-6304T>G) | |
2 | g.233760731G>A | CA351066694 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>A (n.856-6303G>A) c.868-6303G>A (n.868-6303G>A) c.862-6303G>A (n.862-6303G>A) c.444G>A (p.Met148Ile) c.61-6303G>A (n.61-6303G>A) c.442-6303G>A (n.442-6303G>A) | |
2 | g.233760731G>C | CA351066695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>C (n.856-6303G>C) c.868-6303G>C (n.868-6303G>C) c.862-6303G>C (n.862-6303G>C) c.444G>C (p.Met148Ile) c.61-6303G>C (n.61-6303G>C) c.442-6303G>C (n.442-6303G>C) | |
2 | g.233760731G>T | CA351066696 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6303G>T (n.856-6303G>T) c.868-6303G>T (n.868-6303G>T) c.862-6303G>T (n.862-6303G>T) c.444G>T (p.Met148Ile) c.61-6303G>T (n.61-6303G>T) c.442-6303G>T (n.442-6303G>T) | |
2 | g.233760732C>A | CA351066697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>A (n.856-6302C>A) c.868-6302C>A (n.868-6302C>A) c.862-6302C>A (n.862-6302C>A) c.445C>A (p.Leu149Met) c.61-6302C>A (n.61-6302C>A) c.442-6302C>A (n.442-6302C>A) | |
2 | g.233760732C>G | CA351066698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>G (n.856-6302C>G) c.868-6302C>G (n.868-6302C>G) c.862-6302C>G (n.862-6302C>G) c.445C>G (p.Leu149Val) c.61-6302C>G (n.61-6302C>G) c.442-6302C>G (n.442-6302C>G) | |
2 | g.233760732C>T | CA431960431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6302C>T (n.856-6302C>T) c.868-6302C>T (n.868-6302C>T) c.862-6302C>T (n.862-6302C>T) c.445C>T (p.Leu149=) c.61-6302C>T (n.61-6302C>T) c.442-6302C>T (n.442-6302C>T) | |
2 | g.233760733T>A | CA351066700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>A (n.856-6301T>A) c.868-6301T>A (n.868-6301T>A) c.862-6301T>A (n.862-6301T>A) c.446T>A (p.Leu149Gln) c.61-6301T>A (n.61-6301T>A) c.442-6301T>A (n.442-6301T>A) | |
2 | g.233760733T>C | CA351066701 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>C (n.856-6301T>C) c.868-6301T>C (n.868-6301T>C) c.862-6301T>C (n.862-6301T>C) c.446T>C (p.Leu149Pro) c.61-6301T>C (n.61-6301T>C) c.442-6301T>C (n.442-6301T>C) | |
2 | g.233760733T>G | CA351066699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301T>G (n.856-6301T>G) c.868-6301T>G (n.868-6301T>G) c.862-6301T>G (n.862-6301T>G) c.446T>G (p.Leu149Arg) c.61-6301T>G (n.61-6301T>G) c.442-6301T>G (n.442-6301T>G) | gnomAD v4 |
2 | g.233760733_233760741delinsTGACGGACC | CA1335889375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6301_856-6293delinsTGACGGACC (n.856-6301_856-6293delinsTGACGGACC) c.868-6301_868-6293delinsTGACGGACC (n.868-6301_868-6293delinsTGACGGACC) c.862-6301_862-6293delinsTGACGGACC (n.862-6301_862-6293delinsTGACGGACC) c.446_454delinsTGACGGACC (p.Leu149=) c.61-6301_61-6293delinsTGACGGACC (n.61-6301_61-6293delinsTGACGGACC) c.442-6301_442-6293delinsTGACGGACC (n.442-6301_442-6293delinsTGACGGACC) | |
2 | g.233760734G>A | CA431960432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>A (n.856-6300G>A) c.868-6300G>A (n.868-6300G>A) c.862-6300G>A (n.862-6300G>A) c.447G>A (p.Leu149=) c.61-6300G>A (n.61-6300G>A) c.442-6300G>A (n.442-6300G>A) | |
2 | g.233760734G>C | CA431960434 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>C (n.856-6300G>C) c.868-6300G>C (n.868-6300G>C) c.862-6300G>C (n.862-6300G>C) c.447G>C (p.Leu149=) c.61-6300G>C (n.61-6300G>C) c.442-6300G>C (n.442-6300G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760734G= | CA1335889376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G= (n.856-6300G=) c.868-6300G= (n.868-6300G=) c.862-6300G= (n.862-6300G=) c.447G= (p.Leu149=) c.61-6300G= (n.61-6300G=) c.442-6300G= (n.442-6300G=) | |
2 | g.233760734G>T | CA431960433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300G>T (n.856-6300G>T) c.868-6300G>T (n.868-6300G>T) c.862-6300G>T (n.862-6300G>T) c.447G>T (p.Leu149=) c.61-6300G>T (n.61-6300G>T) c.442-6300G>T (n.442-6300G>T) | |
2 | g.233760734_233760741del | CA1335889377 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6300_856-6293del (n.856-6300_856-6293del) c.868-6300_868-6293del (n.868-6300_868-6293del) c.862-6300_862-6293del (n.862-6300_862-6293del) c.447_454del (p.Thr150PhefsTer?) c.61-6300_61-6293del (n.61-6300_61-6293del) c.442-6300_442-6293del (n.442-6300_442-6293del) | dbSNP |
2 | g.233760735A>C | CA351066702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>C (n.856-6299A>C) c.868-6299A>C (n.868-6299A>C) c.862-6299A>C (n.862-6299A>C) c.448A>C (p.Thr150Pro) c.61-6299A>C (n.61-6299A>C) c.442-6299A>C (n.442-6299A>C) | |
2 | g.233760735A>G | CA351066703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>G (n.856-6299A>G) c.868-6299A>G (n.868-6299A>G) c.862-6299A>G (n.862-6299A>G) c.448A>G (p.Thr150Ala) c.61-6299A>G (n.61-6299A>G) c.442-6299A>G (n.442-6299A>G) | |
2 | g.233760735A>T | CA351066704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6299A>T (n.856-6299A>T) c.868-6299A>T (n.868-6299A>T) c.862-6299A>T (n.862-6299A>T) c.448A>T (p.Thr150Ser) c.61-6299A>T (n.61-6299A>T) c.442-6299A>T (n.442-6299A>T) | |
2 | g.233760736C>A | CA351066705 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>A (n.856-6298C>A) c.868-6298C>A (n.868-6298C>A) c.862-6298C>A (n.862-6298C>A) c.449C>A (p.Thr150Lys) c.61-6298C>A (n.61-6298C>A) c.442-6298C>A (n.442-6298C>A) | |
2 | g.233760736C= | CA1335889380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C= (n.856-6298C=) c.868-6298C= (n.868-6298C=) c.862-6298C= (n.862-6298C=) c.449C= (p.Thr150=) c.61-6298C= (n.61-6298C=) c.442-6298C= (n.442-6298C=) | |
2 | g.233760736C>G | CA2179824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>G (n.856-6298C>G) c.868-6298C>G (n.868-6298C>G) c.862-6298C>G (n.862-6298C>G) c.449C>G (p.Thr150Arg) c.61-6298C>G (n.61-6298C>G) c.442-6298C>G (n.442-6298C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760736C>T | CA2179825 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6298C>T (n.856-6298C>T) c.868-6298C>T (n.868-6298C>T) c.862-6298C>T (n.862-6298C>T) c.449C>T (p.Thr150Met) c.61-6298C>T (n.61-6298C>T) c.442-6298C>T (n.442-6298C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.233760737G>A | CA2179826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>A (n.856-6297G>A) c.868-6297G>A (n.868-6297G>A) c.862-6297G>A (n.862-6297G>A) c.450G>A (p.Thr150=) c.61-6297G>A (n.61-6297G>A) c.442-6297G>A (n.442-6297G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760737G>C | CA431960436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>C (n.856-6297G>C) c.868-6297G>C (n.868-6297G>C) c.862-6297G>C (n.862-6297G>C) c.450G>C (p.Thr150=) c.61-6297G>C (n.61-6297G>C) c.442-6297G>C (n.442-6297G>C) | |
2 | g.233760737G= | CA1335889383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G= (n.856-6297G=) c.868-6297G= (n.868-6297G=) c.862-6297G= (n.862-6297G=) c.450G= (p.Thr150=) c.61-6297G= (n.61-6297G=) c.442-6297G= (n.442-6297G=) | |
2 | g.233760737G>T | CA431960435 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6297G>T (n.856-6297G>T) c.868-6297G>T (n.868-6297G>T) c.862-6297G>T (n.862-6297G>T) c.450G>T (p.Thr150=) c.61-6297G>T (n.61-6297G>T) c.442-6297G>T (n.442-6297G>T) | |
2 | g.233760738G>A | CA351066706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>A (n.856-6296G>A) c.868-6296G>A (n.868-6296G>A) c.862-6296G>A (n.862-6296G>A) c.451G>A (p.Asp151Asn) c.61-6296G>A (n.61-6296G>A) c.442-6296G>A (n.442-6296G>A) | COSMIC |
2 | g.233760738G>C | CA351066707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>C (n.856-6296G>C) c.868-6296G>C (n.868-6296G>C) c.862-6296G>C (n.862-6296G>C) c.451G>C (p.Asp151His) c.61-6296G>C (n.61-6296G>C) c.442-6296G>C (n.442-6296G>C) | |
2 | g.233760738G>T | CA351066708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6296G>T (n.856-6296G>T) c.868-6296G>T (n.868-6296G>T) c.862-6296G>T (n.862-6296G>T) c.451G>T (p.Asp151Tyr) c.61-6296G>T (n.61-6296G>T) c.442-6296G>T (n.442-6296G>T) | |
2 | g.233760739A= | CA1335889385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A= (n.856-6295A=) c.868-6295A= (n.868-6295A=) c.862-6295A= (n.862-6295A=) c.452A= (p.Asp151=) c.61-6295A= (n.61-6295A=) c.442-6295A= (n.442-6295A=) | |
2 | g.233760739A>C | CA351066709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>C (n.856-6295A>C) c.868-6295A>C (n.868-6295A>C) c.862-6295A>C (n.862-6295A>C) c.452A>C (p.Asp151Ala) c.61-6295A>C (n.61-6295A>C) c.442-6295A>C (n.442-6295A>C) | gnomAD v4 |
2 | g.233760739A>G | CA351066710 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>G (n.856-6295A>G) c.868-6295A>G (n.868-6295A>G) c.862-6295A>G (n.862-6295A>G) c.452A>G (p.Asp151Gly) c.61-6295A>G (n.61-6295A>G) c.442-6295A>G (n.442-6295A>G) | dbSNP |
2 | g.233760739A>T | CA351066711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6295A>T (n.856-6295A>T) c.868-6295A>T (n.868-6295A>T) c.862-6295A>T (n.862-6295A>T) c.452A>T (p.Asp151Val) c.61-6295A>T (n.61-6295A>T) c.442-6295A>T (n.442-6295A>T) | |
2 | g.233760740C>A | CA351066712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>A (n.856-6294C>A) c.868-6294C>A (n.868-6294C>A) c.862-6294C>A (n.862-6294C>A) c.453C>A (p.Asp151Glu) c.61-6294C>A (n.61-6294C>A) c.442-6294C>A (n.442-6294C>A) | |
2 | g.233760740C>G | CA351066713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>G (n.856-6294C>G) c.868-6294C>G (n.868-6294C>G) c.862-6294C>G (n.862-6294C>G) c.453C>G (p.Asp151Glu) c.61-6294C>G (n.61-6294C>G) c.442-6294C>G (n.442-6294C>G) | |
2 | g.233760740C>T | CA431960437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6294C>T (n.856-6294C>T) c.868-6294C>T (n.868-6294C>T) c.862-6294C>T (n.862-6294C>T) c.453C>T (p.Asp151=) c.61-6294C>T (n.61-6294C>T) c.442-6294C>T (n.442-6294C>T) | dbSNP gnomAD v4 |
2 | g.233760741C>A | CA351066714 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>A (n.856-6293C>A) c.868-6293C>A (n.868-6293C>A) c.862-6293C>A (n.862-6293C>A) c.454C>A (p.Pro152Thr) c.61-6293C>A (n.61-6293C>A) c.442-6293C>A (n.442-6293C>A) | |
2 | g.233760741C>G | CA351066715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>G (n.856-6293C>G) c.868-6293C>G (n.868-6293C>G) c.862-6293C>G (n.862-6293C>G) c.454C>G (p.Pro152Ala) c.61-6293C>G (n.61-6293C>G) c.442-6293C>G (n.442-6293C>G) | gnomAD v4 |
2 | g.233760741C>T | CA351066716 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6293C>T (n.856-6293C>T) c.868-6293C>T (n.868-6293C>T) c.862-6293C>T (n.862-6293C>T) c.454C>T (p.Pro152Ser) c.61-6293C>T (n.61-6293C>T) c.442-6293C>T (n.442-6293C>T) | |
2 | g.233760742C>A | CA2179827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>A (n.856-6292C>A) c.868-6292C>A (n.868-6292C>A) c.862-6292C>A (n.862-6292C>A) c.455C>A (p.Pro152His) c.61-6292C>A (n.61-6292C>A) c.442-6292C>A (n.442-6292C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760742C= | CA1335889387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C= (n.856-6292C=) c.868-6292C= (n.868-6292C=) c.862-6292C= (n.862-6292C=) c.455C= (p.Pro152=) c.61-6292C= (n.61-6292C=) c.442-6292C= (n.442-6292C=) | |
2 | g.233760742C>G | CA67589971 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>G (n.856-6292C>G) c.868-6292C>G (n.868-6292C>G) c.862-6292C>G (n.862-6292C>G) c.455C>G (p.Pro152Arg) c.61-6292C>G (n.61-6292C>G) c.442-6292C>G (n.442-6292C>G) | dbSNP |
2 | g.233760742C>T | CA351066717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6292C>T (n.856-6292C>T) c.868-6292C>T (n.868-6292C>T) c.862-6292C>T (n.862-6292C>T) c.455C>T (p.Pro152Leu) c.61-6292C>T (n.61-6292C>T) c.442-6292C>T (n.442-6292C>T) | gnomAD v4 |
2 | g.233760743T>A | CA431960438 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>A (n.856-6291T>A) c.868-6291T>A (n.868-6291T>A) c.862-6291T>A (n.862-6291T>A) c.456T>A (p.Pro152=) c.61-6291T>A (n.61-6291T>A) c.442-6291T>A (n.442-6291T>A) | |
2 | g.233760743T>C | CA67589976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>C (n.856-6291T>C) c.868-6291T>C (n.868-6291T>C) c.862-6291T>C (n.862-6291T>C) c.456T>C (p.Pro152=) c.61-6291T>C (n.61-6291T>C) c.442-6291T>C (n.442-6291T>C) | dbSNP |
2 | g.233760743T>G | CA431960439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T>G (n.856-6291T>G) c.868-6291T>G (n.868-6291T>G) c.862-6291T>G (n.862-6291T>G) c.456T>G (p.Pro152=) c.61-6291T>G (n.61-6291T>G) c.442-6291T>G (n.442-6291T>G) | |
2 | g.233760743T= | CA1335889389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6291T= (n.856-6291T=) c.868-6291T= (n.868-6291T=) c.862-6291T= (n.862-6291T=) c.456T= (p.Pro152=) c.61-6291T= (n.61-6291T=) c.442-6291T= (n.442-6291T=) | |
2 | g.233760744T>A | CA351066718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>A (n.856-6290T>A) c.868-6290T>A (n.868-6290T>A) c.862-6290T>A (n.862-6290T>A) c.457T>A (p.Phe153Ile) c.61-6290T>A (n.61-6290T>A) c.442-6290T>A (n.442-6290T>A) | |
2 | g.233760744T>C | CA351066719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>C (n.856-6290T>C) c.868-6290T>C (n.868-6290T>C) c.862-6290T>C (n.862-6290T>C) c.457T>C (p.Phe153Leu) c.61-6290T>C (n.61-6290T>C) c.442-6290T>C (n.442-6290T>C) | |
2 | g.233760744T>G | CA351066720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6290T>G (n.856-6290T>G) c.868-6290T>G (n.868-6290T>G) c.862-6290T>G (n.862-6290T>G) c.457T>G (p.Phe153Val) c.61-6290T>G (n.61-6290T>G) c.442-6290T>G (n.442-6290T>G) | |
2 | g.233760745T>A | CA351066721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>A (n.856-6289T>A) c.868-6289T>A (n.868-6289T>A) c.862-6289T>A (n.862-6289T>A) c.458T>A (p.Phe153Tyr) c.61-6289T>A (n.61-6289T>A) c.442-6289T>A (n.442-6289T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760745T>C | CA351066722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>C (n.856-6289T>C) c.868-6289T>C (n.868-6289T>C) c.862-6289T>C (n.862-6289T>C) c.458T>C (p.Phe153Ser) c.61-6289T>C (n.61-6289T>C) c.442-6289T>C (n.442-6289T>C) | |
2 | g.233760745T>G | CA351066723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T>G (n.856-6289T>G) c.868-6289T>G (n.868-6289T>G) c.862-6289T>G (n.862-6289T>G) c.458T>G (p.Phe153Cys) c.61-6289T>G (n.61-6289T>G) c.442-6289T>G (n.442-6289T>G) | |
2 | g.233760745T= | CA1335889391 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6289T= (n.856-6289T=) c.868-6289T= (n.868-6289T=) c.862-6289T= (n.862-6289T=) c.458T= (p.Phe153=) c.61-6289T= (n.61-6289T=) c.442-6289T= (n.442-6289T=) | |
2 | g.233760746C>A | CA67589988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>A (n.856-6288C>A) c.868-6288C>A (n.868-6288C>A) c.862-6288C>A (n.862-6288C>A) c.459C>A (p.Phe153Leu) c.61-6288C>A (n.61-6288C>A) c.442-6288C>A (n.442-6288C>A) | dbSNP |
2 | g.233760746C= | CA1335889393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C= (n.856-6288C=) c.868-6288C= (n.868-6288C=) c.862-6288C= (n.862-6288C=) c.459C= (p.Phe153=) c.61-6288C= (n.61-6288C=) c.442-6288C= (n.442-6288C=) | |
2 | g.233760746C>G | CA351066724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>G (n.856-6288C>G) c.868-6288C>G (n.868-6288C>G) c.862-6288C>G (n.862-6288C>G) c.459C>G (p.Phe153Leu) c.61-6288C>G (n.61-6288C>G) c.442-6288C>G (n.442-6288C>G) | dbSNP |
2 | g.233760746C>T | CA431960440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6288C>T (n.856-6288C>T) c.868-6288C>T (n.868-6288C>T) c.862-6288C>T (n.862-6288C>T) c.459C>T (p.Phe153=) c.61-6288C>T (n.61-6288C>T) c.442-6288C>T (n.442-6288C>T) | |
2 | g.233760747C>A | CA351066725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>A (n.856-6287C>A) c.868-6287C>A (n.868-6287C>A) c.862-6287C>A (n.862-6287C>A) c.460C>A (p.Leu154Ile) c.61-6287C>A (n.61-6287C>A) c.442-6287C>A (n.442-6287C>A) | |
2 | g.233760747C>G | CA351066727 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>G (n.856-6287C>G) c.868-6287C>G (n.868-6287C>G) c.862-6287C>G (n.862-6287C>G) c.460C>G (p.Leu154Val) c.61-6287C>G (n.61-6287C>G) c.442-6287C>G (n.442-6287C>G) | |
2 | g.233760747C>T | CA351066726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6287C>T (n.856-6287C>T) c.868-6287C>T (n.868-6287C>T) c.862-6287C>T (n.862-6287C>T) c.460C>T (p.Leu154Phe) c.61-6287C>T (n.61-6287C>T) c.442-6287C>T (n.442-6287C>T) | |
2 | g.233760748T>A | CA351066728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>A (n.856-6286T>A) c.868-6286T>A (n.868-6286T>A) c.862-6286T>A (n.862-6286T>A) c.461T>A (p.Leu154His) c.61-6286T>A (n.61-6286T>A) c.442-6286T>A (n.442-6286T>A) | |
2 | g.233760748T>C | CA351066730 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>C (n.856-6286T>C) c.868-6286T>C (n.868-6286T>C) c.862-6286T>C (n.862-6286T>C) c.461T>C (p.Leu154Pro) c.61-6286T>C (n.61-6286T>C) c.442-6286T>C (n.442-6286T>C) | |
2 | g.233760748T>G | CA351066729 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6286T>G (n.856-6286T>G) c.868-6286T>G (n.868-6286T>G) c.862-6286T>G (n.862-6286T>G) c.461T>G (p.Leu154Arg) c.61-6286T>G (n.61-6286T>G) c.442-6286T>G (n.442-6286T>G) | |
2 | g.233760749T>A | CA431960442 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>A (n.856-6285T>A) c.868-6285T>A (n.868-6285T>A) c.862-6285T>A (n.862-6285T>A) c.462T>A (p.Leu154=) c.61-6285T>A (n.61-6285T>A) c.442-6285T>A (n.442-6285T>A) | |
2 | g.233760749T>C | CA431960443 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>C (n.856-6285T>C) c.868-6285T>C (n.868-6285T>C) c.862-6285T>C (n.862-6285T>C) c.462T>C (p.Leu154=) c.61-6285T>C (n.61-6285T>C) c.442-6285T>C (n.442-6285T>C) | |
2 | g.233760749T>G | CA431960441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6285T>G (n.856-6285T>G) c.868-6285T>G (n.868-6285T>G) c.862-6285T>G (n.862-6285T>G) c.462T>G (p.Leu154=) c.61-6285T>G (n.61-6285T>G) c.442-6285T>G (n.442-6285T>G) | |
2 | g.233760750C>A | CA351066731 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6284C>A (n.856-6284C>A) c.868-6284C>A (n.868-6284C>A) c.862-6284C>A (n.862-6284C>A) c.463C>A (p.Pro155Thr) c.61-6284C>A (n.61-6284C>A) c.442-6284C>A (n.442-6284C>A) | |
2 | g.233760750C>G | CA351066732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6284C>G (n.856-6284C>G) c.868-6284C>G (n.868-6284C>G) c.862-6284C>G (n.862-6284C>G) c.463C>G (p.Pro155Ala) c.61-6284C>G (n.61-6284C>G) c.442-6284C>G (n.442-6284C>G) | |
2 | g.233760750C>T | CA351066733 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6284C>T (n.856-6284C>T) c.868-6284C>T (n.868-6284C>T) c.862-6284C>T (n.862-6284C>T) c.463C>T (p.Pro155Ser) c.61-6284C>T (n.61-6284C>T) c.442-6284C>T (n.442-6284C>T) | |
2 | g.233760751C>A | CA351066734 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6283C>A (n.856-6283C>A) c.868-6283C>A (n.868-6283C>A) c.862-6283C>A (n.862-6283C>A) c.464C>A (p.Pro155His) c.61-6283C>A (n.61-6283C>A) c.442-6283C>A (n.442-6283C>A) | |
2 | g.233760751C>G | CA351066735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6283C>G (n.856-6283C>G) c.868-6283C>G (n.868-6283C>G) c.862-6283C>G (n.862-6283C>G) c.464C>G (p.Pro155Arg) c.61-6283C>G (n.61-6283C>G) c.442-6283C>G (n.442-6283C>G) | |
2 | g.233760751C>T | CA351066736 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6283C>T (n.856-6283C>T) c.868-6283C>T (n.868-6283C>T) c.862-6283C>T (n.862-6283C>T) c.464C>T (p.Pro155Leu) c.61-6283C>T (n.61-6283C>T) c.442-6283C>T (n.442-6283C>T) | |
2 | g.233760752T>A | CA431960445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6282T>A (n.856-6282T>A) c.868-6282T>A (n.868-6282T>A) c.862-6282T>A (n.862-6282T>A) c.465T>A (p.Pro155=) c.61-6282T>A (n.61-6282T>A) c.442-6282T>A (n.442-6282T>A) | |
2 | g.233760752T>C | CA431960446 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6282T>C (n.856-6282T>C) c.868-6282T>C (n.868-6282T>C) c.862-6282T>C (n.862-6282T>C) c.465T>C (p.Pro155=) c.61-6282T>C (n.61-6282T>C) c.442-6282T>C (n.442-6282T>C) | |
2 | g.233760752T>G | CA431960444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6282T>G (n.856-6282T>G) c.868-6282T>G (n.868-6282T>G) c.862-6282T>G (n.862-6282T>G) c.465T>G (p.Pro155=) c.61-6282T>G (n.61-6282T>G) c.442-6282T>G (n.442-6282T>G) | |
2 | g.233760753T>A | CA351066737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>A (n.856-6281T>A) c.868-6281T>A (n.868-6281T>A) c.862-6281T>A (n.862-6281T>A) c.466T>A (p.Cys156Ser) c.61-6281T>A (n.61-6281T>A) c.442-6281T>A (n.442-6281T>A) | |
2 | g.233760753T>C | CA351066738 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>C (n.856-6281T>C) c.868-6281T>C (n.868-6281T>C) c.862-6281T>C (n.862-6281T>C) c.466T>C (p.Cys156Arg) c.61-6281T>C (n.61-6281T>C) c.442-6281T>C (n.442-6281T>C) | |
2 | g.233760753T>G | CA351066739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6281T>G (n.856-6281T>G) c.868-6281T>G (n.868-6281T>G) c.862-6281T>G (n.862-6281T>G) c.466T>G (p.Cys156Gly) c.61-6281T>G (n.61-6281T>G) c.442-6281T>G (n.442-6281T>G) | |
2 | g.233760754G>A | CA351066740 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>A (n.856-6280G>A) c.868-6280G>A (n.868-6280G>A) c.862-6280G>A (n.862-6280G>A) c.467G>A (p.Cys156Tyr) c.61-6280G>A (n.61-6280G>A) c.442-6280G>A (n.442-6280G>A) | |
2 | g.233760754G>C | CA351066741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>C (n.856-6280G>C) c.868-6280G>C (n.868-6280G>C) c.862-6280G>C (n.862-6280G>C) c.467G>C (p.Cys156Ser) c.61-6280G>C (n.61-6280G>C) c.442-6280G>C (n.442-6280G>C) | |
2 | g.233760754G= | CA1335889395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G= (n.856-6280G=) c.868-6280G= (n.868-6280G=) c.862-6280G= (n.862-6280G=) c.467G= (p.Cys156=) c.61-6280G= (n.61-6280G=) c.442-6280G= (n.442-6280G=) | |
2 | g.233760754G>T | CA351066742 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6280G>T (n.856-6280G>T) c.868-6280G>T (n.868-6280G>T) c.862-6280G>T (n.862-6280G>T) c.467G>T (p.Cys156Phe) c.61-6280G>T (n.61-6280G>T) c.442-6280G>T (n.442-6280G>T) | |
2 | g.233760755C>A | CA351066743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>A (n.856-6279C>A) c.868-6279C>A (n.868-6279C>A) c.862-6279C>A (n.862-6279C>A) c.468C>A (p.Cys156Ter) c.61-6279C>A (n.61-6279C>A) c.442-6279C>A (n.442-6279C>A) | |
2 | g.233760755C>G | CA351066744 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>G (n.856-6279C>G) c.868-6279C>G (n.868-6279C>G) c.862-6279C>G (n.862-6279C>G) c.468C>G (p.Cys156Trp) c.61-6279C>G (n.61-6279C>G) c.442-6279C>G (n.442-6279C>G) | |
2 | g.233760755C>T | CA431960447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279C>T (n.856-6279C>T) c.868-6279C>T (n.868-6279C>T) c.862-6279C>T (n.862-6279C>T) c.468C>T (p.Cys156=) c.61-6279C>T (n.61-6279C>T) c.442-6279C>T (n.442-6279C>T) | COSMIC |
2 | g.233760755_233760756insCC | CA1335889397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6279_856-6278insCC (n.856-6279_856-6278insCC) c.868-6279_868-6278insCC (n.868-6279_868-6278insCC) c.862-6279_862-6278insCC (n.862-6279_862-6278insCC) c.468_469insCC (p.Ser157ProfsTer?) c.61-6279_61-6278insCC (n.61-6279_61-6278insCC) c.442-6279_442-6278insCC (n.442-6279_442-6278insCC) | dbSNP |
2 | g.233760756A>C | CA351066745 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>C (n.856-6278A>C) c.868-6278A>C (n.868-6278A>C) c.862-6278A>C (n.862-6278A>C) c.469A>C (p.Ser157Arg) c.61-6278A>C (n.61-6278A>C) c.442-6278A>C (n.442-6278A>C) | |
2 | g.233760756A>G | CA351066746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>G (n.856-6278A>G) c.868-6278A>G (n.868-6278A>G) c.862-6278A>G (n.862-6278A>G) c.469A>G (p.Ser157Gly) c.61-6278A>G (n.61-6278A>G) c.442-6278A>G (n.442-6278A>G) | |
2 | g.233760756A>T | CA351066747 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6278A>T (n.856-6278A>T) c.868-6278A>T (n.868-6278A>T) c.862-6278A>T (n.862-6278A>T) c.469A>T (p.Ser157Cys) c.61-6278A>T (n.61-6278A>T) c.442-6278A>T (n.442-6278A>T) | |
2 | g.233760757G>A | CA67589996 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>A (n.856-6277G>A) c.868-6277G>A (n.868-6277G>A) c.862-6277G>A (n.862-6277G>A) c.470G>A (p.Ser157Asn) c.61-6277G>A (n.61-6277G>A) c.442-6277G>A (n.442-6277G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760757G>C | CA351066748 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>C (n.856-6277G>C) c.868-6277G>C (n.868-6277G>C) c.862-6277G>C (n.862-6277G>C) c.470G>C (p.Ser157Thr) c.61-6277G>C (n.61-6277G>C) c.442-6277G>C (n.442-6277G>C) | |
2 | g.233760757G= | CA1335889398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G= (n.856-6277G=) c.868-6277G= (n.868-6277G=) c.862-6277G= (n.862-6277G=) c.470G= (p.Ser157=) c.61-6277G= (n.61-6277G=) c.442-6277G= (n.442-6277G=) | |
2 | g.233760757G>T | CA351066749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6277G>T (n.856-6277G>T) c.868-6277G>T (n.868-6277G>T) c.862-6277G>T (n.862-6277G>T) c.470G>T (p.Ser157Ile) c.61-6277G>T (n.61-6277G>T) c.442-6277G>T (n.442-6277G>T) | |
2 | g.233760758C>A | CA351066750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>A (n.856-6276C>A) c.868-6276C>A (n.868-6276C>A) c.862-6276C>A (n.862-6276C>A) c.471C>A (p.Ser157Arg) c.61-6276C>A (n.61-6276C>A) c.442-6276C>A (n.442-6276C>A) | |
2 | g.233760758C= | CA1335889400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C= (n.856-6276C=) c.868-6276C= (n.868-6276C=) c.862-6276C= (n.862-6276C=) c.471C= (p.Ser157=) c.61-6276C= (n.61-6276C=) c.442-6276C= (n.442-6276C=) | |
2 | g.233760758C>G | CA351066751 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>G (n.856-6276C>G) c.868-6276C>G (n.868-6276C>G) c.862-6276C>G (n.862-6276C>G) c.471C>G (p.Ser157Arg) c.61-6276C>G (n.61-6276C>G) c.442-6276C>G (n.442-6276C>G) | |
2 | g.233760758C>T | CA2179828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6276C>T (n.856-6276C>T) c.868-6276C>T (n.868-6276C>T) c.862-6276C>T (n.862-6276C>T) c.471C>T (p.Ser157=) c.61-6276C>T (n.61-6276C>T) c.442-6276C>T (n.442-6276C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760759C>A | CA351066752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>A (n.856-6275C>A) c.868-6275C>A (n.868-6275C>A) c.862-6275C>A (n.862-6275C>A) c.472C>A (p.Pro158Thr) c.61-6275C>A (n.61-6275C>A) c.442-6275C>A (n.442-6275C>A) | dbSNP |
2 | g.233760759C= | CA1335889402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C= (n.856-6275C=) c.868-6275C= (n.868-6275C=) c.862-6275C= (n.862-6275C=) c.472C= (p.Pro158=) c.61-6275C= (n.61-6275C=) c.442-6275C= (n.442-6275C=) | |
2 | g.233760759C>G | CA351066753 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>G (n.856-6275C>G) c.868-6275C>G (n.868-6275C>G) c.862-6275C>G (n.862-6275C>G) c.472C>G (p.Pro158Ala) c.61-6275C>G (n.61-6275C>G) c.442-6275C>G (n.442-6275C>G) | |
2 | g.233760759C>T | CA351066754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6275C>T (n.856-6275C>T) c.868-6275C>T (n.868-6275C>T) c.862-6275C>T (n.862-6275C>T) c.472C>T (p.Pro158Ser) c.61-6275C>T (n.61-6275C>T) c.442-6275C>T (n.442-6275C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760760C>A | CA351066755 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>A (n.856-6274C>A) c.868-6274C>A (n.868-6274C>A) c.862-6274C>A (n.862-6274C>A) c.473C>A (p.Pro158His) c.61-6274C>A (n.61-6274C>A) c.442-6274C>A (n.442-6274C>A) | dbSNP |
2 | g.233760760C= | CA1335889404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C= (n.856-6274C=) c.868-6274C= (n.868-6274C=) c.862-6274C= (n.862-6274C=) c.473C= (p.Pro158=) c.61-6274C= (n.61-6274C=) c.442-6274C= (n.442-6274C=) | |
2 | g.233760760C>G | CA351066757 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>G (n.856-6274C>G) c.868-6274C>G (n.868-6274C>G) c.862-6274C>G (n.862-6274C>G) c.473C>G (p.Pro158Arg) c.61-6274C>G (n.61-6274C>G) c.442-6274C>G (n.442-6274C>G) | dbSNP gnomAD v4 |
2 | g.233760760C>T | CA351066756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6274C>T (n.856-6274C>T) c.868-6274C>T (n.868-6274C>T) c.862-6274C>T (n.862-6274C>T) c.473C>T (p.Pro158Leu) c.61-6274C>T (n.61-6274C>T) c.442-6274C>T (n.442-6274C>T) | |
2 | g.233760761C>A | CA431960448 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>A (n.856-6273C>A) c.868-6273C>A (n.868-6273C>A) c.862-6273C>A (n.862-6273C>A) c.474C>A (p.Pro158=) c.61-6273C>A (n.61-6273C>A) c.442-6273C>A (n.442-6273C>A) | |
2 | g.233760761C= | CA1335889406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C= (n.856-6273C=) c.868-6273C= (n.868-6273C=) c.862-6273C= (n.862-6273C=) c.474C= (p.Pro158=) c.61-6273C= (n.61-6273C=) c.442-6273C= (n.442-6273C=) | |
2 | g.233760761C>G | CA431960449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>G (n.856-6273C>G) c.868-6273C>G (n.868-6273C>G) c.862-6273C>G (n.862-6273C>G) c.474C>G (p.Pro158=) c.61-6273C>G (n.61-6273C>G) c.442-6273C>G (n.442-6273C>G) | dbSNP |
2 | g.233760761C>T | CA431960450 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273C>T (n.856-6273C>T) c.868-6273C>T (n.868-6273C>T) c.862-6273C>T (n.862-6273C>T) c.474C>T (p.Pro158=) c.61-6273C>T (n.61-6273C>T) c.442-6273C>T (n.442-6273C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760761_233760763delinsCAT | CA1335889408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273_856-6271delinsCAT (n.856-6273_856-6271delinsCAT) c.868-6273_868-6271delinsCAT (n.868-6273_868-6271delinsCAT) c.862-6273_862-6271delinsCAT (n.862-6273_862-6271delinsCAT) c.474_476delinsCAT (p.Pro158=) c.61-6273_61-6271delinsCAT (n.61-6273_61-6271delinsCAT) c.442-6273_442-6271delinsCAT (n.442-6273_442-6271delinsCAT) | |
2 | g.233760761_233760762insT | CA122072 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6273_856-6272insT (n.856-6273_856-6272insT) c.868-6273_868-6272insT (n.868-6273_868-6272insT) c.862-6273_862-6272insT (n.862-6273_862-6272insT) c.474_475insT (p.Ile159TyrfsTer24) c.61-6273_61-6272insT (n.61-6273_61-6272insT) c.442-6273_442-6272insT (n.442-6273_442-6272insT) | ClinVar dbSNP |
2 | g.233760762A>C | CA351066758 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>C (n.856-6272A>C) c.868-6272A>C (n.868-6272A>C) c.862-6272A>C (n.862-6272A>C) c.475A>C (p.Ile159Leu) c.61-6272A>C (n.61-6272A>C) c.442-6272A>C (n.442-6272A>C) | |
2 | g.233760762A>G | CA351066759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>G (n.856-6272A>G) c.868-6272A>G (n.868-6272A>G) c.862-6272A>G (n.862-6272A>G) c.475A>G (p.Ile159Val) c.61-6272A>G (n.61-6272A>G) c.442-6272A>G (n.442-6272A>G) | gnomAD v4 |
2 | g.233760762A>T | CA351066760 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272A>T (n.856-6272A>T) c.868-6272A>T (n.868-6272A>T) c.862-6272A>T (n.862-6272A>T) c.475A>T (p.Ile159Phe) c.61-6272A>T (n.61-6272A>T) c.442-6272A>T (n.442-6272A>T) | |
2 | g.233760762_233760763del | CA1335889411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6272_856-6271del (n.856-6272_856-6271del) c.868-6272_868-6271del (n.868-6272_868-6271del) c.862-6272_862-6271del (n.862-6272_862-6271del) c.475_476del (p.Ile159ArgfsTer23) c.61-6272_61-6271del (n.61-6272_61-6271del) c.442-6272_442-6271del (n.442-6272_442-6271del) | dbSNP |
2 | g.233760763T>A | CA351066761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>A (n.856-6271T>A) c.868-6271T>A (n.868-6271T>A) c.862-6271T>A (n.862-6271T>A) c.476T>A (p.Ile159Asn) c.61-6271T>A (n.61-6271T>A) c.442-6271T>A (n.442-6271T>A) | |
2 | g.233760763T>C | CA173877 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>C (n.856-6271T>C) c.868-6271T>C (n.868-6271T>C) c.862-6271T>C (n.862-6271T>C) c.476T>C (p.Ile159Thr) c.61-6271T>C (n.61-6271T>C) c.442-6271T>C (n.442-6271T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760763T>G | CA351066763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T>G (n.856-6271T>G) c.868-6271T>G (n.868-6271T>G) c.862-6271T>G (n.862-6271T>G) c.476T>G (p.Ile159Ser) c.61-6271T>G (n.61-6271T>G) c.442-6271T>G (n.442-6271T>G) | |
2 | g.233760763T= | CA1335889414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6271T= (n.856-6271T=) c.868-6271T= (n.868-6271T=) c.862-6271T= (n.862-6271T=) c.476T= (p.Ile159=) c.61-6271T= (n.61-6271T=) c.442-6271T= (n.442-6271T=) | |
2 | g.233760764C>A | CA67590026 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>A (n.856-6270C>A) c.868-6270C>A (n.868-6270C>A) c.862-6270C>A (n.862-6270C>A) c.477C>A (p.Ile159=) c.61-6270C>A (n.61-6270C>A) c.442-6270C>A (n.442-6270C>A) | dbSNP gnomAD v4 |
2 | g.233760764C= | CA1335889420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C= (n.856-6270C=) c.868-6270C= (n.868-6270C=) c.862-6270C= (n.862-6270C=) c.477C= (p.Ile159=) c.61-6270C= (n.61-6270C=) c.442-6270C= (n.442-6270C=) | |
2 | g.233760764C>G | CA351066765 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>G (n.856-6270C>G) c.868-6270C>G (n.868-6270C>G) c.862-6270C>G (n.862-6270C>G) c.477C>G (p.Ile159Met) c.61-6270C>G (n.61-6270C>G) c.442-6270C>G (n.442-6270C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760764C>T | CA2179829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6270C>T (n.856-6270C>T) c.868-6270C>T (n.868-6270C>T) c.862-6270C>T (n.862-6270C>T) c.477C>T (p.Ile159=) c.61-6270C>T (n.61-6270C>T) c.442-6270C>T (n.442-6270C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760765G>A | CA2179830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>A (n.856-6269G>A) c.868-6269G>A (n.868-6269G>A) c.862-6269G>A (n.862-6269G>A) c.478G>A (p.Val160Met) c.61-6269G>A (n.61-6269G>A) c.442-6269G>A (n.442-6269G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760765G>C | CA351066769 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>C (n.856-6269G>C) c.868-6269G>C (n.868-6269G>C) c.862-6269G>C (n.862-6269G>C) c.478G>C (p.Val160Leu) c.61-6269G>C (n.61-6269G>C) c.442-6269G>C (n.442-6269G>C) | |
2 | g.233760765G= | CA1335889424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G= (n.856-6269G=) c.868-6269G= (n.868-6269G=) c.862-6269G= (n.862-6269G=) c.478G= (p.Val160=) c.61-6269G= (n.61-6269G=) c.442-6269G= (n.442-6269G=) | |
2 | g.233760765G>T | CA351066771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6269G>T (n.856-6269G>T) c.868-6269G>T (n.868-6269G>T) c.862-6269G>T (n.862-6269G>T) c.478G>T (p.Val160Leu) c.61-6269G>T (n.61-6269G>T) c.442-6269G>T (n.442-6269G>T) | |
2 | g.233760766T>A | CA173880 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>A (n.856-6268T>A) c.868-6268T>A (n.868-6268T>A) c.862-6268T>A (n.862-6268T>A) c.479T>A (p.Val160Glu) c.61-6268T>A (n.61-6268T>A) c.442-6268T>A (n.442-6268T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760766T>C | CA351066776 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>C (n.856-6268T>C) c.868-6268T>C (n.868-6268T>C) c.862-6268T>C (n.862-6268T>C) c.479T>C (p.Val160Ala) c.61-6268T>C (n.61-6268T>C) c.442-6268T>C (n.442-6268T>C) | |
2 | g.233760766T>G | CA351066774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T>G (n.856-6268T>G) c.868-6268T>G (n.868-6268T>G) c.862-6268T>G (n.862-6268T>G) c.479T>G (p.Val160Gly) c.61-6268T>G (n.61-6268T>G) c.442-6268T>G (n.442-6268T>G) | |
2 | g.233760766T= | CA1335889427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6268T= (n.856-6268T=) c.868-6268T= (n.868-6268T=) c.862-6268T= (n.862-6268T=) c.479T= (p.Val160=) c.61-6268T= (n.61-6268T=) c.442-6268T= (n.442-6268T=) | |
2 | g.233760767G>A | CA431960453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>A (n.856-6267G>A) c.868-6267G>A (n.868-6267G>A) c.862-6267G>A (n.862-6267G>A) c.480G>A (p.Val160=) c.61-6267G>A (n.61-6267G>A) c.442-6267G>A (n.442-6267G>A) | |
2 | g.233760767G>C | CA431960452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>C (n.856-6267G>C) c.868-6267G>C (n.868-6267G>C) c.862-6267G>C (n.862-6267G>C) c.480G>C (p.Val160=) c.61-6267G>C (n.61-6267G>C) c.442-6267G>C (n.442-6267G>C) | |
2 | g.233760767G>T | CA431960451 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6267G>T (n.856-6267G>T) c.868-6267G>T (n.868-6267G>T) c.862-6267G>T (n.862-6267G>T) c.480G>T (p.Val160=) c.61-6267G>T (n.61-6267G>T) c.442-6267G>T (n.442-6267G>T) | |
2 | g.233760768G>A | CA351066779 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>A (n.856-6266G>A) c.868-6266G>A (n.868-6266G>A) c.862-6266G>A (n.862-6266G>A) c.481G>A (p.Ala161Thr) c.61-6266G>A (n.61-6266G>A) c.442-6266G>A (n.442-6266G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760768G>C | CA351066781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>C (n.856-6266G>C) c.868-6266G>C (n.868-6266G>C) c.862-6266G>C (n.862-6266G>C) c.481G>C (p.Ala161Pro) c.61-6266G>C (n.61-6266G>C) c.442-6266G>C (n.442-6266G>C) | |
2 | g.233760768G= | CA1335889431 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G= (n.856-6266G=) c.868-6266G= (n.868-6266G=) c.862-6266G= (n.862-6266G=) c.481G= (p.Ala161=) c.61-6266G= (n.61-6266G=) c.442-6266G= (n.442-6266G=) | |
2 | g.233760768G>T | CA351066783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6266G>T (n.856-6266G>T) c.868-6266G>T (n.868-6266G>T) c.862-6266G>T (n.862-6266G>T) c.481G>T (p.Ala161Ser) c.61-6266G>T (n.61-6266G>T) c.442-6266G>T (n.442-6266G>T) | dbSNP |
2 | g.233760769C>A | CA351066785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>A (n.856-6265C>A) c.868-6265C>A (n.868-6265C>A) c.862-6265C>A (n.862-6265C>A) c.482C>A (p.Ala161Asp) c.61-6265C>A (n.61-6265C>A) c.442-6265C>A (n.442-6265C>A) | gnomAD v4 |
2 | g.233760769C= | CA1335889433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C= (n.856-6265C=) c.868-6265C= (n.868-6265C=) c.862-6265C= (n.862-6265C=) c.482C= (p.Ala161=) c.61-6265C= (n.61-6265C=) c.442-6265C= (n.442-6265C=) | |
2 | g.233760769C>G | CA351066787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>G (n.856-6265C>G) c.868-6265C>G (n.868-6265C>G) c.862-6265C>G (n.862-6265C>G) c.482C>G (p.Ala161Gly) c.61-6265C>G (n.61-6265C>G) c.442-6265C>G (n.442-6265C>G) | |
2 | g.233760769C>T | CA2179831 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6265C>T (n.856-6265C>T) c.868-6265C>T (n.868-6265C>T) c.862-6265C>T (n.862-6265C>T) c.482C>T (p.Ala161Val) c.61-6265C>T (n.61-6265C>T) c.442-6265C>T (n.442-6265C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760770C>A | CA431960456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>A (n.856-6264C>A) c.868-6264C>A (n.868-6264C>A) c.862-6264C>A (n.862-6264C>A) c.483C>A (p.Ala161=) c.61-6264C>A (n.61-6264C>A) c.442-6264C>A (n.442-6264C>A) | |
2 | g.233760770C>G | CA431960455 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>G (n.856-6264C>G) c.868-6264C>G (n.868-6264C>G) c.862-6264C>G (n.862-6264C>G) c.483C>G (p.Ala161=) c.61-6264C>G (n.61-6264C>G) c.442-6264C>G (n.442-6264C>G) | |
2 | g.233760770C>T | CA431960454 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6264C>T (n.856-6264C>T) c.868-6264C>T (n.868-6264C>T) c.862-6264C>T (n.862-6264C>T) c.483C>T (p.Ala161=) c.61-6264C>T (n.61-6264C>T) c.442-6264C>T (n.442-6264C>T) | gnomAD v4 |
2 | g.233760771C>A | CA351066791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>A (n.856-6263C>A) c.868-6263C>A (n.868-6263C>A) c.862-6263C>A (n.862-6263C>A) c.484C>A (p.Gln162Lys) c.61-6263C>A (n.61-6263C>A) c.442-6263C>A (n.442-6263C>A) | |
2 | g.233760771C>G | CA351066793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>G (n.856-6263C>G) c.868-6263C>G (n.868-6263C>G) c.862-6263C>G (n.862-6263C>G) c.484C>G (p.Gln162Glu) c.61-6263C>G (n.61-6263C>G) c.442-6263C>G (n.442-6263C>G) | |
2 | g.233760771C>T | CA351066795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6263C>T (n.856-6263C>T) c.868-6263C>T (n.868-6263C>T) c.862-6263C>T (n.862-6263C>T) c.484C>T (p.Gln162Ter) c.61-6263C>T (n.61-6263C>T) c.442-6263C>T (n.442-6263C>T) | |
2 | g.233760772A>C | CA351066800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>C (n.856-6262A>C) c.868-6262A>C (n.868-6262A>C) c.862-6262A>C (n.862-6262A>C) c.485A>C (p.Gln162Pro) c.61-6262A>C (n.61-6262A>C) c.442-6262A>C (n.442-6262A>C) | gnomAD v4 |
2 | g.233760772A>G | CA351066798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>G (n.856-6262A>G) c.868-6262A>G (n.868-6262A>G) c.862-6262A>G (n.862-6262A>G) c.485A>G (p.Gln162Arg) c.61-6262A>G (n.61-6262A>G) c.442-6262A>G (n.442-6262A>G) | |
2 | g.233760772A>T | CA351066797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6262A>T (n.856-6262A>T) c.868-6262A>T (n.868-6262A>T) c.862-6262A>T (n.862-6262A>T) c.485A>T (p.Gln162Leu) c.61-6262A>T (n.61-6262A>T) c.442-6262A>T (n.442-6262A>T) | |
2 | g.233760773G>A | CA431960457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>A (n.856-6261G>A) c.868-6261G>A (n.868-6261G>A) c.862-6261G>A (n.862-6261G>A) c.486G>A (p.Gln162=) c.61-6261G>A (n.61-6261G>A) c.442-6261G>A (n.442-6261G>A) | gnomAD v4 |
2 | g.233760773G>C | CA2179832 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>C (n.856-6261G>C) c.868-6261G>C (n.868-6261G>C) c.862-6261G>C (n.862-6261G>C) c.486G>C (p.Gln162His) c.61-6261G>C (n.61-6261G>C) c.442-6261G>C (n.442-6261G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760773G= | CA1335889453 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G= (n.856-6261G=) c.868-6261G= (n.868-6261G=) c.862-6261G= (n.862-6261G=) c.486G= (p.Gln162=) c.61-6261G= (n.61-6261G=) c.442-6261G= (n.442-6261G=) | |
2 | g.233760773G>T | CA351066803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6261G>T (n.856-6261G>T) c.868-6261G>T (n.868-6261G>T) c.862-6261G>T (n.862-6261G>T) c.486G>T (p.Gln162His) c.61-6261G>T (n.61-6261G>T) c.442-6261G>T (n.442-6261G>T) | |
2 | g.233760774T>A | CA351066805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>A (n.856-6260T>A) c.868-6260T>A (n.868-6260T>A) c.862-6260T>A (n.862-6260T>A) c.487T>A (p.Tyr163Asn) c.61-6260T>A (n.61-6260T>A) c.442-6260T>A (n.442-6260T>A) | |
2 | g.233760774T>C | CA351066810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>C (n.856-6260T>C) c.868-6260T>C (n.868-6260T>C) c.862-6260T>C (n.862-6260T>C) c.487T>C (p.Tyr163His) c.61-6260T>C (n.61-6260T>C) c.442-6260T>C (n.442-6260T>C) | gnomAD v4 |
2 | g.233760774T>G | CA351066811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6260T>G (n.856-6260T>G) c.868-6260T>G (n.868-6260T>G) c.862-6260T>G (n.862-6260T>G) c.487T>G (p.Tyr163Asp) c.61-6260T>G (n.61-6260T>G) c.442-6260T>G (n.442-6260T>G) | |
2 | g.233760775_233760778dup | CA2586965607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259_856-6256dup (n.856-6259_856-6256dup) c.868-6259_868-6256dup (n.868-6259_868-6256dup) c.862-6259_862-6256dup (n.862-6259_862-6256dup) c.488_491dup (p.Ser165ProfsTer19) c.61-6259_61-6256dup (n.61-6259_61-6256dup) c.442-6259_442-6256dup (n.442-6259_442-6256dup) | |
2 | g.233760775A>C | CA351066814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>C (n.856-6259A>C) c.868-6259A>C (n.868-6259A>C) c.862-6259A>C (n.862-6259A>C) c.488A>C (p.Tyr163Ser) c.61-6259A>C (n.61-6259A>C) c.442-6259A>C (n.442-6259A>C) | |
2 | g.233760775A>G | CA351066816 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>G (n.856-6259A>G) c.868-6259A>G (n.868-6259A>G) c.862-6259A>G (n.862-6259A>G) c.488A>G (p.Tyr163Cys) c.61-6259A>G (n.61-6259A>G) c.442-6259A>G (n.442-6259A>G) | gnomAD v4 |
2 | g.233760775A>T | CA351066818 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6259A>T (n.856-6259A>T) c.868-6259A>T (n.868-6259A>T) c.862-6259A>T (n.862-6259A>T) c.488A>T (p.Tyr163Phe) c.61-6259A>T (n.61-6259A>T) c.442-6259A>T (n.442-6259A>T) | |
2 | g.233760776C>A | CA351066820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>A (n.856-6258C>A) c.868-6258C>A (n.868-6258C>A) c.862-6258C>A (n.862-6258C>A) c.489C>A (p.Tyr163Ter) c.61-6258C>A (n.61-6258C>A) c.442-6258C>A (n.442-6258C>A) | |
2 | g.233760776C>G | CA351066822 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>G (n.856-6258C>G) c.868-6258C>G (n.868-6258C>G) c.862-6258C>G (n.862-6258C>G) c.489C>G (p.Tyr163Ter) c.61-6258C>G (n.61-6258C>G) c.442-6258C>G (n.442-6258C>G) | gnomAD v4 |
2 | g.233760776C>T | CA431960458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6258C>T (n.856-6258C>T) c.868-6258C>T (n.868-6258C>T) c.862-6258C>T (n.862-6258C>T) c.489C>T (p.Tyr163=) c.61-6258C>T (n.61-6258C>T) c.442-6258C>T (n.442-6258C>T) | gnomAD v4 |
2 | g.233760777C>A | CA351066824 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>A (n.856-6257C>A) c.868-6257C>A (n.868-6257C>A) c.862-6257C>A (n.862-6257C>A) c.490C>A (p.Leu164Met) c.61-6257C>A (n.61-6257C>A) c.442-6257C>A (n.442-6257C>A) | |
2 | g.233760777C>G | CA351066826 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>G (n.856-6257C>G) c.868-6257C>G (n.868-6257C>G) c.862-6257C>G (n.862-6257C>G) c.490C>G (p.Leu164Val) c.61-6257C>G (n.61-6257C>G) c.442-6257C>G (n.442-6257C>G) | |
2 | g.233760777C>T | CA431960459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6257C>T (n.856-6257C>T) c.868-6257C>T (n.868-6257C>T) c.862-6257C>T (n.862-6257C>T) c.490C>T (p.Leu164=) c.61-6257C>T (n.61-6257C>T) c.442-6257C>T (n.442-6257C>T) | |
2 | g.233760778T>A | CA351066827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>A (n.856-6256T>A) c.868-6256T>A (n.868-6256T>A) c.862-6256T>A (n.862-6256T>A) c.491T>A (p.Leu164Gln) c.61-6256T>A (n.61-6256T>A) c.442-6256T>A (n.442-6256T>A) | |
2 | g.233760778T>C | CA351066829 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>C (n.856-6256T>C) c.868-6256T>C (n.868-6256T>C) c.862-6256T>C (n.862-6256T>C) c.491T>C (p.Leu164Pro) c.61-6256T>C (n.61-6256T>C) c.442-6256T>C (n.442-6256T>C) | |
2 | g.233760778T>G | CA351066831 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6256T>G (n.856-6256T>G) c.868-6256T>G (n.868-6256T>G) c.862-6256T>G (n.862-6256T>G) c.491T>G (p.Leu164Arg) c.61-6256T>G (n.61-6256T>G) c.442-6256T>G (n.442-6256T>G) | |
2 | g.233760779_233760780del | CA2573135611 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255_856-6254del (n.856-6255_856-6254del) c.868-6255_868-6254del (n.868-6255_868-6254del) c.862-6255_862-6254del (n.862-6255_862-6254del) c.492_493del (p.Leu166AlafsTer16) c.61-6255_61-6254del (n.61-6255_61-6254del) c.442-6255_442-6254del (n.442-6255_442-6254del) | ClinVar dbSNP |
2 | g.233760779G>A | CA431960462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>A (n.856-6255G>A) c.868-6255G>A (n.868-6255G>A) c.862-6255G>A (n.862-6255G>A) c.492G>A (p.Leu164=) c.61-6255G>A (n.61-6255G>A) c.442-6255G>A (n.442-6255G>A) | |
2 | g.233760779G>C | CA431960460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>C (n.856-6255G>C) c.868-6255G>C (n.868-6255G>C) c.862-6255G>C (n.862-6255G>C) c.492G>C (p.Leu164=) c.61-6255G>C (n.61-6255G>C) c.442-6255G>C (n.442-6255G>C) | |
2 | g.233760779G>T | CA431960461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6255G>T (n.856-6255G>T) c.868-6255G>T (n.868-6255G>T) c.862-6255G>T (n.862-6255G>T) c.492G>T (p.Leu164=) c.61-6255G>T (n.61-6255G>T) c.442-6255G>T (n.442-6255G>T) | |
2 | g.233760780T>A | CA351066836 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>A (n.856-6254T>A) c.868-6254T>A (n.868-6254T>A) c.862-6254T>A (n.862-6254T>A) c.493T>A (p.Ser165Thr) c.61-6254T>A (n.61-6254T>A) c.442-6254T>A (n.442-6254T>A) | |
2 | g.233760780T>C | CA351066833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>C (n.856-6254T>C) c.868-6254T>C (n.868-6254T>C) c.862-6254T>C (n.862-6254T>C) c.493T>C (p.Ser165Pro) c.61-6254T>C (n.61-6254T>C) c.442-6254T>C (n.442-6254T>C) | |
2 | g.233760780T>G | CA351066834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6254T>G (n.856-6254T>G) c.868-6254T>G (n.868-6254T>G) c.862-6254T>G (n.862-6254T>G) c.493T>G (p.Ser165Ala) c.61-6254T>G (n.61-6254T>G) c.442-6254T>G (n.442-6254T>G) | |
2 | g.233760781C>A | CA351066838 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>A (n.856-6253C>A) c.868-6253C>A (n.868-6253C>A) c.862-6253C>A (n.862-6253C>A) c.494C>A (p.Ser165Tyr) c.61-6253C>A (n.61-6253C>A) c.442-6253C>A (n.442-6253C>A) | |
2 | g.233760781C>G | CA351066840 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>G (n.856-6253C>G) c.868-6253C>G (n.868-6253C>G) c.862-6253C>G (n.862-6253C>G) c.494C>G (p.Ser165Cys) c.61-6253C>G (n.61-6253C>G) c.442-6253C>G (n.442-6253C>G) | |
2 | g.233760781C>T | CA351066842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6253C>T (n.856-6253C>T) c.868-6253C>T (n.868-6253C>T) c.862-6253C>T (n.862-6253C>T) c.494C>T (p.Ser165Phe) c.61-6253C>T (n.61-6253C>T) c.442-6253C>T (n.442-6253C>T) | |
2 | g.233760782T>A | CA431960465 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>A (n.856-6252T>A) c.868-6252T>A (n.868-6252T>A) c.862-6252T>A (n.862-6252T>A) c.495T>A (p.Ser165=) c.61-6252T>A (n.61-6252T>A) c.442-6252T>A (n.442-6252T>A) | |
2 | g.233760782T>C | CA431960464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>C (n.856-6252T>C) c.868-6252T>C (n.868-6252T>C) c.862-6252T>C (n.862-6252T>C) c.495T>C (p.Ser165=) c.61-6252T>C (n.61-6252T>C) c.442-6252T>C (n.442-6252T>C) | |
2 | g.233760782T>G | CA431960463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6252T>G (n.856-6252T>G) c.868-6252T>G (n.868-6252T>G) c.862-6252T>G (n.862-6252T>G) c.495T>G (p.Ser165=) c.61-6252T>G (n.61-6252T>G) c.442-6252T>G (n.442-6252T>G) | |
2 | g.233760783C>A | CA351066844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>A (n.856-6251C>A) c.868-6251C>A (n.868-6251C>A) c.862-6251C>A (n.862-6251C>A) c.496C>A (p.Leu166Met) c.61-6251C>A (n.61-6251C>A) c.442-6251C>A (n.442-6251C>A) | |
2 | g.233760783C>G | CA351066846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>G (n.856-6251C>G) c.868-6251C>G (n.868-6251C>G) c.862-6251C>G (n.862-6251C>G) c.496C>G (p.Leu166Val) c.61-6251C>G (n.61-6251C>G) c.442-6251C>G (n.442-6251C>G) | COSMIC COSMIC |
2 | g.233760783C>T | CA431960466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6251C>T (n.856-6251C>T) c.868-6251C>T (n.868-6251C>T) c.862-6251C>T (n.862-6251C>T) c.496C>T (p.Leu166=) c.61-6251C>T (n.61-6251C>T) c.442-6251C>T (n.442-6251C>T) | gnomAD v4 |
2 | g.233760784T>A | CA351066849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>A (n.856-6250T>A) c.868-6250T>A (n.868-6250T>A) c.862-6250T>A (n.862-6250T>A) c.497T>A (p.Leu166Gln) c.61-6250T>A (n.61-6250T>A) c.442-6250T>A (n.442-6250T>A) | |
2 | g.233760784T>C | CA351066851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>C (n.856-6250T>C) c.868-6250T>C (n.868-6250T>C) c.862-6250T>C (n.862-6250T>C) c.497T>C (p.Leu166Pro) c.61-6250T>C (n.61-6250T>C) c.442-6250T>C (n.442-6250T>C) | |
2 | g.233760784T>G | CA2179833 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T>G (n.856-6250T>G) c.868-6250T>G (n.868-6250T>G) c.862-6250T>G (n.862-6250T>G) c.497T>G (p.Leu166Arg) c.61-6250T>G (n.61-6250T>G) c.442-6250T>G (n.442-6250T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760784T= | CA1335889456 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6250T= (n.856-6250T=) c.868-6250T= (n.868-6250T=) c.862-6250T= (n.862-6250T=) c.497T= (p.Leu166=) c.61-6250T= (n.61-6250T=) c.442-6250T= (n.442-6250T=) | |
2 | g.233760785G>A | CA431960468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>A (n.856-6249G>A) c.868-6249G>A (n.868-6249G>A) c.862-6249G>A (n.862-6249G>A) c.498G>A (p.Leu166=) c.61-6249G>A (n.61-6249G>A) c.442-6249G>A (n.442-6249G>A) | gnomAD v4 |
2 | g.233760785G>C | CA431960467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>C (n.856-6249G>C) c.868-6249G>C (n.868-6249G>C) c.862-6249G>C (n.862-6249G>C) c.498G>C (p.Leu166=) c.61-6249G>C (n.61-6249G>C) c.442-6249G>C (n.442-6249G>C) | |
2 | g.233760785G>T | CA431960469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6249G>T (n.856-6249G>T) c.868-6249G>T (n.868-6249G>T) c.862-6249G>T (n.862-6249G>T) c.498G>T (p.Leu166=) c.61-6249G>T (n.61-6249G>T) c.442-6249G>T (n.442-6249G>T) | |
2 | g.233760786C>A | CA351066855 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>A (n.856-6248C>A) c.868-6248C>A (n.868-6248C>A) c.862-6248C>A (n.862-6248C>A) c.499C>A (p.Pro167Thr) c.61-6248C>A (n.61-6248C>A) c.442-6248C>A (n.442-6248C>A) | |
2 | g.233760786C>G | CA351066856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>G (n.856-6248C>G) c.868-6248C>G (n.868-6248C>G) c.862-6248C>G (n.862-6248C>G) c.499C>G (p.Pro167Ala) c.61-6248C>G (n.61-6248C>G) c.442-6248C>G (n.442-6248C>G) | |
2 | g.233760786C>T | CA351066858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6248C>T (n.856-6248C>T) c.868-6248C>T (n.868-6248C>T) c.862-6248C>T (n.862-6248C>T) c.499C>T (p.Pro167Ser) c.61-6248C>T (n.61-6248C>T) c.442-6248C>T (n.442-6248C>T) | |
2 | g.233760787C>A | CA351066863 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>A (n.856-6247C>A) c.868-6247C>A (n.868-6247C>A) c.862-6247C>A (n.862-6247C>A) c.500C>A (p.Pro167His) c.61-6247C>A (n.61-6247C>A) c.442-6247C>A (n.442-6247C>A) | |
2 | g.233760787C>G | CA351066861 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>G (n.856-6247C>G) c.868-6247C>G (n.868-6247C>G) c.862-6247C>G (n.862-6247C>G) c.500C>G (p.Pro167Arg) c.61-6247C>G (n.61-6247C>G) c.442-6247C>G (n.442-6247C>G) | |
2 | g.233760787C>T | CA351066860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6247C>T (n.856-6247C>T) c.868-6247C>T (n.868-6247C>T) c.862-6247C>T (n.862-6247C>T) c.500C>T (p.Pro167Leu) c.61-6247C>T (n.61-6247C>T) c.442-6247C>T (n.442-6247C>T) | COSMIC COSMIC |
2 | g.233760788C>A | CA431960471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>A (n.856-6246C>A) c.868-6246C>A (n.868-6246C>A) c.862-6246C>A (n.862-6246C>A) c.501C>A (p.Pro167=) c.61-6246C>A (n.61-6246C>A) c.442-6246C>A (n.442-6246C>A) | |
2 | g.233760788C>G | CA431960470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>G (n.856-6246C>G) c.868-6246C>G (n.868-6246C>G) c.862-6246C>G (n.862-6246C>G) c.501C>G (p.Pro167=) c.61-6246C>G (n.61-6246C>G) c.442-6246C>G (n.442-6246C>G) | |
2 | g.233760788C>T | CA431960472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6246C>T (n.856-6246C>T) c.868-6246C>T (n.868-6246C>T) c.862-6246C>T (n.862-6246C>T) c.501C>T (p.Pro167=) c.61-6246C>T (n.61-6246C>T) c.442-6246C>T (n.442-6246C>T) | |
2 | g.233760789A= | CA1335889458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A= (n.856-6245A=) c.868-6245A= (n.868-6245A=) c.862-6245A= (n.862-6245A=) c.502A= (p.Thr168=) c.61-6245A= (n.61-6245A=) c.442-6245A= (n.442-6245A=) | |
2 | g.233760789A>C | CA351066865 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>C (n.856-6245A>C) c.868-6245A>C (n.868-6245A>C) c.862-6245A>C (n.862-6245A>C) c.502A>C (p.Thr168Pro) c.61-6245A>C (n.61-6245A>C) c.442-6245A>C (n.442-6245A>C) | |
2 | g.233760789A>G | CA2179834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>G (n.856-6245A>G) c.868-6245A>G (n.868-6245A>G) c.862-6245A>G (n.862-6245A>G) c.502A>G (p.Thr168Ala) c.61-6245A>G (n.61-6245A>G) c.442-6245A>G (n.442-6245A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760789A>T | CA351066867 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6245A>T (n.856-6245A>T) c.868-6245A>T (n.868-6245A>T) c.862-6245A>T (n.862-6245A>T) c.502A>T (p.Thr168Ser) c.61-6245A>T (n.61-6245A>T) c.442-6245A>T (n.442-6245A>T) | |
2 | g.233760790C>A | CA351066870 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>A (n.856-6244C>A) c.868-6244C>A (n.868-6244C>A) c.862-6244C>A (n.862-6244C>A) c.503C>A (p.Thr168Asn) c.61-6244C>A (n.61-6244C>A) c.442-6244C>A (n.442-6244C>A) | |
2 | g.233760790C>G | CA351066872 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>G (n.856-6244C>G) c.868-6244C>G (n.868-6244C>G) c.862-6244C>G (n.862-6244C>G) c.503C>G (p.Thr168Ser) c.61-6244C>G (n.61-6244C>G) c.442-6244C>G (n.442-6244C>G) | |
2 | g.233760790C>T | CA351066874 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6244C>T (n.856-6244C>T) c.868-6244C>T (n.868-6244C>T) c.862-6244C>T (n.862-6244C>T) c.503C>T (p.Thr168Ile) c.61-6244C>T (n.61-6244C>T) c.442-6244C>T (n.442-6244C>T) | |
2 | g.233760791T>A | CA431960475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>A (n.856-6243T>A) c.868-6243T>A (n.868-6243T>A) c.862-6243T>A (n.862-6243T>A) c.504T>A (p.Thr168=) c.61-6243T>A (n.61-6243T>A) c.442-6243T>A (n.442-6243T>A) | |
2 | g.233760791T>C | CA431960474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>C (n.856-6243T>C) c.868-6243T>C (n.868-6243T>C) c.862-6243T>C (n.862-6243T>C) c.504T>C (p.Thr168=) c.61-6243T>C (n.61-6243T>C) c.442-6243T>C (n.442-6243T>C) | |
2 | g.233760791T>G | CA431960473 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6243T>G (n.856-6243T>G) c.868-6243T>G (n.868-6243T>G) c.862-6243T>G (n.862-6243T>G) c.504T>G (p.Thr168=) c.61-6243T>G (n.61-6243T>G) c.442-6243T>G (n.442-6243T>G) | |
2 | g.233760792G>A | CA351066876 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>A (n.856-6242G>A) c.868-6242G>A (n.868-6242G>A) c.862-6242G>A (n.862-6242G>A) c.505G>A (p.Val169Ile) c.61-6242G>A (n.61-6242G>A) c.442-6242G>A (n.442-6242G>A) | dbSNP gnomAD v4 |
2 | g.233760792G>C | CA351066878 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>C (n.856-6242G>C) c.868-6242G>C (n.868-6242G>C) c.862-6242G>C (n.862-6242G>C) c.505G>C (p.Val169Leu) c.61-6242G>C (n.61-6242G>C) c.442-6242G>C (n.442-6242G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760792G= | CA1335889463 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G= (n.856-6242G=) c.868-6242G= (n.868-6242G=) c.862-6242G= (n.862-6242G=) c.505G= (p.Val169=) c.61-6242G= (n.61-6242G=) c.442-6242G= (n.442-6242G=) | |
2 | g.233760792G>T | CA351066879 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6242G>T (n.856-6242G>T) c.868-6242G>T (n.868-6242G>T) c.862-6242G>T (n.862-6242G>T) c.505G>T (p.Val169Leu) c.61-6242G>T (n.61-6242G>T) c.442-6242G>T (n.442-6242G>T) | COSMIC |
2 | g.233760793T>A | CA351066881 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>A (n.856-6241T>A) c.868-6241T>A (n.868-6241T>A) c.862-6241T>A (n.862-6241T>A) c.506T>A (p.Val169Glu) c.61-6241T>A (n.61-6241T>A) c.442-6241T>A (n.442-6241T>A) | ClinVar |
2 | g.233760793T>C | CA351066883 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>C (n.856-6241T>C) c.868-6241T>C (n.868-6241T>C) c.862-6241T>C (n.862-6241T>C) c.506T>C (p.Val169Ala) c.61-6241T>C (n.61-6241T>C) c.442-6241T>C (n.442-6241T>C) | |
2 | g.233760793T>G | CA351066885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6241T>G (n.856-6241T>G) c.868-6241T>G (n.868-6241T>G) c.862-6241T>G (n.862-6241T>G) c.506T>G (p.Val169Gly) c.61-6241T>G (n.61-6241T>G) c.442-6241T>G (n.442-6241T>G) | |
2 | g.233760794A>C | CA431960477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>C (n.856-6240A>C) c.868-6240A>C (n.868-6240A>C) c.862-6240A>C (n.862-6240A>C) c.507A>C (p.Val169=) c.61-6240A>C (n.61-6240A>C) c.442-6240A>C (n.442-6240A>C) | |
2 | g.233760794A>G | CA431960478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>G (n.856-6240A>G) c.868-6240A>G (n.868-6240A>G) c.862-6240A>G (n.862-6240A>G) c.507A>G (p.Val169=) c.61-6240A>G (n.61-6240A>G) c.442-6240A>G (n.442-6240A>G) | |
2 | g.233760794A>T | CA431960476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240A>T (n.856-6240A>T) c.868-6240A>T (n.868-6240A>T) c.862-6240A>T (n.862-6240A>T) c.507A>T (p.Val169=) c.61-6240A>T (n.61-6240A>T) c.442-6240A>T (n.442-6240A>T) | |
2 | g.233760794_233760797delinsATTC | CA1335889467 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6240_856-6237delinsATTC (n.856-6240_856-6237delinsATTC) c.868-6240_868-6237delinsATTC (n.868-6240_868-6237delinsATTC) c.862-6240_862-6237delinsATTC (n.862-6240_862-6237delinsATTC) c.507_510delinsATTC (p.Val169=) c.61-6240_61-6237delinsATTC (n.61-6240_61-6237delinsATTC) c.442-6240_442-6237delinsATTC (n.442-6240_442-6237delinsATTC) | |
2 | g.233760795T>A | CA351066892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>A (n.856-6239T>A) c.868-6239T>A (n.868-6239T>A) c.862-6239T>A (n.862-6239T>A) c.508T>A (p.Phe170Ile) c.61-6239T>A (n.61-6239T>A) c.442-6239T>A (n.442-6239T>A) | |
2 | g.233760795T>C | CA67590060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>C (n.856-6239T>C) c.868-6239T>C (n.868-6239T>C) c.862-6239T>C (n.862-6239T>C) c.508T>C (p.Phe170Leu) c.61-6239T>C (n.61-6239T>C) c.442-6239T>C (n.442-6239T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760795T>G | CA351066890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T>G (n.856-6239T>G) c.868-6239T>G (n.868-6239T>G) c.862-6239T>G (n.862-6239T>G) c.508T>G (p.Phe170Val) c.61-6239T>G (n.61-6239T>G) c.442-6239T>G (n.442-6239T>G) | |
2 | g.233760795T= | CA1335889474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6239T= (n.856-6239T=) c.868-6239T= (n.868-6239T=) c.862-6239T= (n.862-6239T=) c.508T= (p.Phe170=) c.61-6239T= (n.61-6239T=) c.442-6239T= (n.442-6239T=) | |
2 | g.233760800_233760802del | CA122051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6234_856-6232del (n.856-6234_856-6232del) c.868-6234_868-6232del (n.868-6234_868-6232del) c.862-6234_862-6232del (n.862-6234_862-6232del) c.513_515del (p.Phe171del) c.61-6234_61-6232del (n.61-6234_61-6232del) c.442-6234_442-6232del (n.442-6234_442-6232del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760796T>A | CA351066895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>A (n.856-6238T>A) c.868-6238T>A (n.868-6238T>A) c.862-6238T>A (n.862-6238T>A) c.509T>A (p.Phe170Tyr) c.61-6238T>A (n.61-6238T>A) c.442-6238T>A (n.442-6238T>A) | |
2 | g.233760796T>C | CA351066897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>C (n.856-6238T>C) c.868-6238T>C (n.868-6238T>C) c.862-6238T>C (n.862-6238T>C) c.509T>C (p.Phe170Ser) c.61-6238T>C (n.61-6238T>C) c.442-6238T>C (n.442-6238T>C) | |
2 | g.233760796T>G | CA351066900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6238T>G (n.856-6238T>G) c.868-6238T>G (n.868-6238T>G) c.862-6238T>G (n.862-6238T>G) c.509T>G (p.Phe170Cys) c.61-6238T>G (n.61-6238T>G) c.442-6238T>G (n.442-6238T>G) |