Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760847_233760848del | CA2663717464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187_856-6186del (n.856-6187_856-6186del) c.868-6187_868-6186del (n.868-6187_868-6186del) c.862-6187_862-6186del (n.862-6187_862-6186del) c.560_561del (p.Pro187GlnfsTer?) c.61-6187_61-6186del (n.61-6187_61-6186del) c.442-6187_442-6186del (n.442-6187_442-6186del) | gnomAD v4 |
2 | g.233760846C>A | CA351067119 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>A (n.856-6188C>A) c.868-6188C>A (n.868-6188C>A) c.862-6188C>A (n.862-6188C>A) c.559C>A (p.Pro187Thr) c.61-6188C>A (n.61-6188C>A) c.442-6188C>A (n.442-6188C>A) | |
2 | g.233760846C= | CA1335889538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C= (n.856-6188C=) c.868-6188C= (n.868-6188C=) c.862-6188C= (n.862-6188C=) c.559C= (p.Pro187=) c.61-6188C= (n.61-6188C=) c.442-6188C= (n.442-6188C=) | |
2 | g.233760846C>G | CA2179842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>G (n.856-6188C>G) c.868-6188C>G (n.868-6188C>G) c.862-6188C>G (n.862-6188C>G) c.559C>G (p.Pro187Ala) c.61-6188C>G (n.61-6188C>G) c.442-6188C>G (n.442-6188C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760846C>T | CA351067120 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6188C>T (n.856-6188C>T) c.868-6188C>T (n.868-6188C>T) c.862-6188C>T (n.862-6188C>T) c.559C>T (p.Pro187Ser) c.61-6188C>T (n.61-6188C>T) c.442-6188C>T (n.442-6188C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760847C>A | CA351067121 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>A (n.856-6187C>A) c.868-6187C>A (n.868-6187C>A) c.862-6187C>A (n.862-6187C>A) c.560C>A (p.Pro187His) c.61-6187C>A (n.61-6187C>A) c.442-6187C>A (n.442-6187C>A) | gnomAD v4 |
2 | g.233760847C>G | CA351067123 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>G (n.856-6187C>G) c.868-6187C>G (n.868-6187C>G) c.862-6187C>G (n.862-6187C>G) c.560C>G (p.Pro187Arg) c.61-6187C>G (n.61-6187C>G) c.442-6187C>G (n.442-6187C>G) | gnomAD v4 |
2 | g.233760847C>T | CA351067124 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6187C>T (n.856-6187C>T) c.868-6187C>T (n.868-6187C>T) c.862-6187C>T (n.862-6187C>T) c.560C>T (p.Pro187Leu) c.61-6187C>T (n.61-6187C>T) c.442-6187C>T (n.442-6187C>T) | |
2 | g.233760848C>A | CA431960582 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>A (n.856-6186C>A) c.868-6186C>A (n.868-6186C>A) c.862-6186C>A (n.862-6186C>A) c.561C>A (p.Pro187=) c.61-6186C>A (n.61-6186C>A) c.442-6186C>A (n.442-6186C>A) | |
2 | g.233760848C= | CA1335889542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C= (n.856-6186C=) c.868-6186C= (n.868-6186C=) c.862-6186C= (n.862-6186C=) c.561C= (p.Pro187=) c.61-6186C= (n.61-6186C=) c.442-6186C= (n.442-6186C=) | |
2 | g.233760848C>G | CA431960583 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>G (n.856-6186C>G) c.868-6186C>G (n.868-6186C>G) c.862-6186C>G (n.862-6186C>G) c.561C>G (p.Pro187=) c.61-6186C>G (n.61-6186C>G) c.442-6186C>G (n.442-6186C>G) | |
2 | g.233760848C>T | CA431960584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6186C>T (n.856-6186C>T) c.868-6186C>T (n.868-6186C>T) c.862-6186C>T (n.862-6186C>T) c.561C>T (p.Pro187=) c.61-6186C>T (n.61-6186C>T) c.442-6186C>T (n.442-6186C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760849A>C | CA351067126 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>C (n.856-6185A>C) c.868-6185A>C (n.868-6185A>C) c.862-6185A>C (n.862-6185A>C) c.562A>C (p.Asn188His) c.61-6185A>C (n.61-6185A>C) c.442-6185A>C (n.442-6185A>C) | |
2 | g.233760849A>G | CA351067127 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>G (n.856-6185A>G) c.868-6185A>G (n.868-6185A>G) c.862-6185A>G (n.862-6185A>G) c.562A>G (p.Asn188Asp) c.61-6185A>G (n.61-6185A>G) c.442-6185A>G (n.442-6185A>G) | |
2 | g.233760849A>T | CA351067130 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6185A>T (n.856-6185A>T) c.868-6185A>T (n.868-6185A>T) c.862-6185A>T (n.862-6185A>T) c.562A>T (p.Asn188Tyr) c.61-6185A>T (n.61-6185A>T) c.442-6185A>T (n.442-6185A>T) | |
2 | g.233760850A= | CA1335889545 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A= (n.856-6184A=) c.868-6184A= (n.868-6184A=) c.862-6184A= (n.862-6184A=) c.563A= (p.Asn188=) c.61-6184A= (n.61-6184A=) c.442-6184A= (n.442-6184A=) | |
2 | g.233760850A>C | CA351067132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>C (n.856-6184A>C) c.868-6184A>C (n.868-6184A>C) c.862-6184A>C (n.862-6184A>C) c.563A>C (p.Asn188Thr) c.61-6184A>C (n.61-6184A>C) c.442-6184A>C (n.442-6184A>C) | |
2 | g.233760850A>G | CA351067134 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>G (n.856-6184A>G) c.868-6184A>G (n.868-6184A>G) c.862-6184A>G (n.862-6184A>G) c.563A>G (p.Asn188Ser) c.61-6184A>G (n.61-6184A>G) c.442-6184A>G (n.442-6184A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760850A>T | CA351067136 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6184A>T (n.856-6184A>T) c.868-6184A>T (n.868-6184A>T) c.862-6184A>T (n.862-6184A>T) c.563A>T (p.Asn188Ile) c.61-6184A>T (n.61-6184A>T) c.442-6184A>T (n.442-6184A>T) | dbSNP gnomAD v2 |
2 | g.233760851C>A | CA351067139 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>A (n.856-6183C>A) c.868-6183C>A (n.868-6183C>A) c.862-6183C>A (n.862-6183C>A) c.564C>A (p.Asn188Lys) c.61-6183C>A (n.61-6183C>A) c.442-6183C>A (n.442-6183C>A) | dbSNP |
2 | g.233760851C= | CA1335889547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C= (n.856-6183C=) c.868-6183C= (n.868-6183C=) c.862-6183C= (n.862-6183C=) c.564C= (p.Asn188=) c.61-6183C= (n.61-6183C=) c.442-6183C= (n.442-6183C=) | |
2 | g.233760851C>G | CA351067141 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>G (n.856-6183C>G) c.868-6183C>G (n.868-6183C>G) c.862-6183C>G (n.862-6183C>G) c.564C>G (p.Asn188Lys) c.61-6183C>G (n.61-6183C>G) c.442-6183C>G (n.442-6183C>G) | |
2 | g.233760851C>T | CA431960589 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6183C>T (n.856-6183C>T) c.868-6183C>T (n.868-6183C>T) c.862-6183C>T (n.862-6183C>T) c.564C>T (p.Asn188=) c.61-6183C>T (n.61-6183C>T) c.442-6183C>T (n.442-6183C>T) | dbSNP |
2 | g.233760852C>A | CA2179843 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>A (n.856-6182C>A) c.868-6182C>A (n.868-6182C>A) c.862-6182C>A (n.862-6182C>A) c.565C>A (p.Pro189Thr) c.61-6182C>A (n.61-6182C>A) c.442-6182C>A (n.442-6182C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.233760852C= | CA1335889549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C= (n.856-6182C=) c.868-6182C= (n.868-6182C=) c.862-6182C= (n.862-6182C=) c.565C= (p.Pro189=) c.61-6182C= (n.61-6182C=) c.442-6182C= (n.442-6182C=) | |
2 | g.233760852C>G | CA351067145 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>G (n.856-6182C>G) c.868-6182C>G (n.868-6182C>G) c.862-6182C>G (n.862-6182C>G) c.565C>G (p.Pro189Ala) c.61-6182C>G (n.61-6182C>G) c.442-6182C>G (n.442-6182C>G) | |
2 | g.233760852C>T | CA351067143 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6182C>T (n.856-6182C>T) c.868-6182C>T (n.868-6182C>T) c.862-6182C>T (n.862-6182C>T) c.565C>T (p.Pro189Ser) c.61-6182C>T (n.61-6182C>T) c.442-6182C>T (n.442-6182C>T) | |
2 | g.233760853C>A | CA351067150 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>A (n.856-6181C>A) c.868-6181C>A (n.868-6181C>A) c.862-6181C>A (n.862-6181C>A) c.566C>A (p.Pro189Gln) c.61-6181C>A (n.61-6181C>A) c.442-6181C>A (n.442-6181C>A) | |
2 | g.233760853C>G | CA351067148 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>G (n.856-6181C>G) c.868-6181C>G (n.868-6181C>G) c.862-6181C>G (n.862-6181C>G) c.566C>G (p.Pro189Arg) c.61-6181C>G (n.61-6181C>G) c.442-6181C>G (n.442-6181C>G) | |
2 | g.233760853C>T | CA351067151 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6181C>T (n.856-6181C>T) c.868-6181C>T (n.868-6181C>T) c.862-6181C>T (n.862-6181C>T) c.566C>T (p.Pro189Leu) c.61-6181C>T (n.61-6181C>T) c.442-6181C>T (n.442-6181C>T) | |
2 | g.233760854A= | CA1335889551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6180A= (n.856-6180A=) c.868-6180A= (n.868-6180A=) c.862-6180A= (n.862-6180A=) c.567A= (p.Pro189=) c.61-6180A= (n.61-6180A=) c.442-6180A= (n.442-6180A=) | |
2 | g.233760854A>C | CA431960592 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6180A>C (n.856-6180A>C) c.868-6180A>C (n.868-6180A>C) c.862-6180A>C (n.862-6180A>C) c.567A>C (p.Pro189=) c.61-6180A>C (n.61-6180A>C) c.442-6180A>C (n.442-6180A>C) | |
2 | g.233760854A>G | CA431960593 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6180A>G (n.856-6180A>G) c.868-6180A>G (n.868-6180A>G) c.862-6180A>G (n.862-6180A>G) c.567A>G (p.Pro189=) c.61-6180A>G (n.61-6180A>G) c.442-6180A>G (n.442-6180A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760854A>T | CA431960594 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6180A>T (n.856-6180A>T) c.868-6180A>T (n.868-6180A>T) c.862-6180A>T (n.862-6180A>T) c.567A>T (p.Pro189=) c.61-6180A>T (n.61-6180A>T) c.442-6180A>T (n.442-6180A>T) | |
2 | g.233760855T>A | CA351067154 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6179T>A (n.856-6179T>A) c.868-6179T>A (n.868-6179T>A) c.862-6179T>A (n.862-6179T>A) c.568T>A (p.Phe190Ile) c.61-6179T>A (n.61-6179T>A) c.442-6179T>A (n.442-6179T>A) | |
2 | g.233760855T>C | CA351067155 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6179T>C (n.856-6179T>C) c.868-6179T>C (n.868-6179T>C) c.862-6179T>C (n.862-6179T>C) c.568T>C (p.Phe190Leu) c.61-6179T>C (n.61-6179T>C) c.442-6179T>C (n.442-6179T>C) | |
2 | g.233760855T>G | CA351067156 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6179T>G (n.856-6179T>G) c.868-6179T>G (n.868-6179T>G) c.862-6179T>G (n.862-6179T>G) c.568T>G (p.Phe190Val) c.61-6179T>G (n.61-6179T>G) c.442-6179T>G (n.442-6179T>G) | |
2 | g.233760856T>A | CA351067158 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6178T>A (n.856-6178T>A) c.868-6178T>A (n.868-6178T>A) c.862-6178T>A (n.862-6178T>A) c.569T>A (p.Phe190Tyr) c.61-6178T>A (n.61-6178T>A) c.442-6178T>A (n.442-6178T>A) | |
2 | g.233760856T>C | CA351067161 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6178T>C (n.856-6178T>C) c.868-6178T>C (n.868-6178T>C) c.862-6178T>C (n.862-6178T>C) c.569T>C (p.Phe190Ser) c.61-6178T>C (n.61-6178T>C) c.442-6178T>C (n.442-6178T>C) | |
2 | g.233760856T>G | CA351067163 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6178T>G (n.856-6178T>G) c.868-6178T>G (n.868-6178T>G) c.862-6178T>G (n.862-6178T>G) c.569T>G (p.Phe190Cys) c.61-6178T>G (n.61-6178T>G) c.442-6178T>G (n.442-6178T>G) | |
2 | g.233760857C>A | CA351067166 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6177C>A (n.856-6177C>A) c.868-6177C>A (n.868-6177C>A) c.862-6177C>A (n.862-6177C>A) c.570C>A (p.Phe190Leu) c.61-6177C>A (n.61-6177C>A) c.442-6177C>A (n.442-6177C>A) | COSMIC |
2 | g.233760857C>G | CA351067168 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6177C>G (n.856-6177C>G) c.868-6177C>G (n.868-6177C>G) c.862-6177C>G (n.862-6177C>G) c.570C>G (p.Phe190Leu) c.61-6177C>G (n.61-6177C>G) c.442-6177C>G (n.442-6177C>G) | gnomAD v4 |
2 | g.233760857C>T | CA431960600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6177C>T (n.856-6177C>T) c.868-6177C>T (n.868-6177C>T) c.862-6177C>T (n.862-6177C>T) c.570C>T (p.Phe190=) c.61-6177C>T (n.61-6177C>T) c.442-6177C>T (n.442-6177C>T) | dbSNP |
2 | g.233760858T>A | CA351067171 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6176T>A (n.856-6176T>A) c.868-6176T>A (n.868-6176T>A) c.862-6176T>A (n.862-6176T>A) c.571T>A (p.Ser191Thr) c.61-6176T>A (n.61-6176T>A) c.442-6176T>A (n.442-6176T>A) | |
2 | g.233760858T>C | CA351067173 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6176T>C (n.856-6176T>C) c.868-6176T>C (n.868-6176T>C) c.862-6176T>C (n.862-6176T>C) c.571T>C (p.Ser191Pro) c.61-6176T>C (n.61-6176T>C) c.442-6176T>C (n.442-6176T>C) | dbSNP gnomAD v4 |
2 | g.233760858T>G | CA351067174 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6176T>G (n.856-6176T>G) c.868-6176T>G (n.868-6176T>G) c.862-6176T>G (n.862-6176T>G) c.571T>G (p.Ser191Ala) c.61-6176T>G (n.61-6176T>G) c.442-6176T>G (n.442-6176T>G) | |
2 | g.233760858T= | CA1335889554 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6176T= (n.856-6176T=) c.868-6176T= (n.868-6176T=) c.862-6176T= (n.862-6176T=) c.571T= (p.Ser191=) c.61-6176T= (n.61-6176T=) c.442-6176T= (n.442-6176T=) | |
2 | g.233760858_233760859delinsTC | CA1335889556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6176_856-6175delinsTC (n.856-6176_856-6175delinsTC) c.868-6176_868-6175delinsTC (n.868-6176_868-6175delinsTC) c.862-6176_862-6175delinsTC (n.862-6176_862-6175delinsTC) c.571_572delinsTC (p.Ser191=) c.61-6176_61-6175delinsTC (n.61-6176_61-6175delinsTC) c.442-6176_442-6175delinsTC (n.442-6176_442-6175delinsTC) | |
2 | g.233760859C>A | CA351067184 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6175C>A (n.856-6175C>A) c.868-6175C>A (n.868-6175C>A) c.862-6175C>A (n.862-6175C>A) c.572C>A (p.Ser191Tyr) c.61-6175C>A (n.61-6175C>A) c.442-6175C>A (n.442-6175C>A) | |
2 | g.233760859C>G | CA351067182 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6175C>G (n.856-6175C>G) c.868-6175C>G (n.868-6175C>G) c.862-6175C>G (n.862-6175C>G) c.572C>G (p.Ser191Cys) c.61-6175C>G (n.61-6175C>G) c.442-6175C>G (n.442-6175C>G) | |
2 | g.233760859C>T | CA351067180 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6175C>T (n.856-6175C>T) c.868-6175C>T (n.868-6175C>T) c.862-6175C>T (n.862-6175C>T) c.572C>T (p.Ser191Phe) c.61-6175C>T (n.61-6175C>T) c.442-6175C>T (n.442-6175C>T) | gnomAD v4 |
2 | g.233760860del | CA540311594 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6174del (n.856-6174del) c.868-6174del (n.868-6174del) c.862-6174del (n.862-6174del) c.573del (p.Tyr192ThrfsTer13) c.61-6174del (n.61-6174del) c.442-6174del (n.442-6174del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760860C>A | CA431960608 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6174C>A (n.856-6174C>A) c.868-6174C>A (n.868-6174C>A) c.862-6174C>A (n.862-6174C>A) c.573C>A (p.Ser191=) c.61-6174C>A (n.61-6174C>A) c.442-6174C>A (n.442-6174C>A) | COSMIC |
2 | g.233760860C>G | CA431960607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6174C>G (n.856-6174C>G) c.868-6174C>G (n.868-6174C>G) c.862-6174C>G (n.862-6174C>G) c.573C>G (p.Ser191=) c.61-6174C>G (n.61-6174C>G) c.442-6174C>G (n.442-6174C>G) | |
2 | g.233760860C>T | CA431960606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6174C>T (n.856-6174C>T) c.868-6174C>T (n.868-6174C>T) c.862-6174C>T (n.862-6174C>T) c.573C>T (p.Ser191=) c.61-6174C>T (n.61-6174C>T) c.442-6174C>T (n.442-6174C>T) | |
2 | g.233760861T>A | CA351067185 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6173T>A (n.856-6173T>A) c.868-6173T>A (n.868-6173T>A) c.862-6173T>A (n.862-6173T>A) c.574T>A (p.Tyr192Asn) c.61-6173T>A (n.61-6173T>A) c.442-6173T>A (n.442-6173T>A) | gnomAD v4 |
2 | g.233760861T>C | CA2179844 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6173T>C (n.856-6173T>C) c.868-6173T>C (n.868-6173T>C) c.862-6173T>C (n.862-6173T>C) c.574T>C (p.Tyr192His) c.61-6173T>C (n.61-6173T>C) c.442-6173T>C (n.442-6173T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760861T>G | CA351067187 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6173T>G (n.856-6173T>G) c.868-6173T>G (n.868-6173T>G) c.862-6173T>G (n.862-6173T>G) c.574T>G (p.Tyr192Asp) c.61-6173T>G (n.61-6173T>G) c.442-6173T>G (n.442-6173T>G) | |
2 | g.233760861T= | CA1335889560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6173T= (n.856-6173T=) c.868-6173T= (n.868-6173T=) c.862-6173T= (n.862-6173T=) c.574T= (p.Tyr192=) c.61-6173T= (n.61-6173T=) c.442-6173T= (n.442-6173T=) | |
2 | g.233760862A= | CA1335889564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6172A= (n.856-6172A=) c.868-6172A= (n.868-6172A=) c.862-6172A= (n.862-6172A=) c.575A= (p.Tyr192=) c.61-6172A= (n.61-6172A=) c.442-6172A= (n.442-6172A=) | |
2 | g.233760862A>C | CA351067189 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6172A>C (n.856-6172A>C) c.868-6172A>C (n.868-6172A>C) c.862-6172A>C (n.862-6172A>C) c.575A>C (p.Tyr192Ser) c.61-6172A>C (n.61-6172A>C) c.442-6172A>C (n.442-6172A>C) | |
2 | g.233760862A>G | CA2179845 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6172A>G (n.856-6172A>G) c.868-6172A>G (n.868-6172A>G) c.862-6172A>G (n.862-6172A>G) c.575A>G (p.Tyr192Cys) c.61-6172A>G (n.61-6172A>G) c.442-6172A>G (n.442-6172A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760862A>T | CA351067191 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6172A>T (n.856-6172A>T) c.868-6172A>T (n.868-6172A>T) c.862-6172A>T (n.862-6172A>T) c.575A>T (p.Tyr192Phe) c.61-6172A>T (n.61-6172A>T) c.442-6172A>T (n.442-6172A>T) | |
2 | g.233760863C>A | CA351067194 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6171C>A (n.856-6171C>A) c.868-6171C>A (n.868-6171C>A) c.862-6171C>A (n.862-6171C>A) c.576C>A (p.Tyr192Ter) c.61-6171C>A (n.61-6171C>A) c.442-6171C>A (n.442-6171C>A) | gnomAD v4 |
2 | g.233760863C= | CA1335889569 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6171C= (n.856-6171C=) c.868-6171C= (n.868-6171C=) c.862-6171C= (n.862-6171C=) c.576C= (p.Tyr192=) c.61-6171C= (n.61-6171C=) c.442-6171C= (n.442-6171C=) | |
2 | g.233760863C>G | CA351067200 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6171C>G (n.856-6171C>G) c.868-6171C>G (n.868-6171C>G) c.862-6171C>G (n.862-6171C>G) c.576C>G (p.Tyr192Ter) c.61-6171C>G (n.61-6171C>G) c.442-6171C>G (n.442-6171C>G) | |
2 | g.233760863C>T | CA2179846 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6171C>T (n.856-6171C>T) c.868-6171C>T (n.868-6171C>T) c.862-6171C>T (n.862-6171C>T) c.576C>T (p.Tyr192=) c.61-6171C>T (n.61-6171C>T) c.442-6171C>T (n.442-6171C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760864G>A | CA2179847 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6170G>A (n.856-6170G>A) c.868-6170G>A (n.868-6170G>A) c.862-6170G>A (n.862-6170G>A) c.577G>A (p.Val193Met) c.61-6170G>A (n.61-6170G>A) c.442-6170G>A (n.442-6170G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760864G>C | CA351067204 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6170G>C (n.856-6170G>C) c.868-6170G>C (n.868-6170G>C) c.862-6170G>C (n.862-6170G>C) c.577G>C (p.Val193Leu) c.61-6170G>C (n.61-6170G>C) c.442-6170G>C (n.442-6170G>C) | gnomAD v4 |
2 | g.233760864G= | CA1335889573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6170G= (n.856-6170G=) c.868-6170G= (n.868-6170G=) c.862-6170G= (n.862-6170G=) c.577G= (p.Val193=) c.61-6170G= (n.61-6170G=) c.442-6170G= (n.442-6170G=) | |
2 | g.233760864G>T | CA351067208 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6170G>T (n.856-6170G>T) c.868-6170G>T (n.868-6170G>T) c.862-6170G>T (n.862-6170G>T) c.577G>T (p.Val193Leu) c.61-6170G>T (n.61-6170G>T) c.442-6170G>T (n.442-6170G>T) | COSMIC |
2 | g.233760865T>A | CA351067216 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6169T>A (n.856-6169T>A) c.868-6169T>A (n.868-6169T>A) c.862-6169T>A (n.862-6169T>A) c.578T>A (p.Val193Glu) c.61-6169T>A (n.61-6169T>A) c.442-6169T>A (n.442-6169T>A) | ClinVar dbSNP |
2 | g.233760865T>C | CA351067213 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6169T>C (n.856-6169T>C) c.868-6169T>C (n.868-6169T>C) c.862-6169T>C (n.862-6169T>C) c.578T>C (p.Val193Ala) c.61-6169T>C (n.61-6169T>C) c.442-6169T>C (n.442-6169T>C) | |
2 | g.233760865T>G | CA351067212 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6169T>G (n.856-6169T>G) c.868-6169T>G (n.868-6169T>G) c.862-6169T>G (n.862-6169T>G) c.578T>G (p.Val193Gly) c.61-6169T>G (n.61-6169T>G) c.442-6169T>G (n.442-6169T>G) | |
2 | g.233760866G>A | CA431960621 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6168G>A (n.856-6168G>A) c.868-6168G>A (n.868-6168G>A) c.862-6168G>A (n.862-6168G>A) c.579G>A (p.Val193=) c.61-6168G>A (n.61-6168G>A) c.442-6168G>A (n.442-6168G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760866G>C | CA431960622 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6168G>C (n.856-6168G>C) c.868-6168G>C (n.868-6168G>C) c.862-6168G>C (n.862-6168G>C) c.579G>C (p.Val193=) c.61-6168G>C (n.61-6168G>C) c.442-6168G>C (n.442-6168G>C) | |
2 | g.233760866G= | CA1335889579 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6168G= (n.856-6168G=) c.868-6168G= (n.868-6168G=) c.862-6168G= (n.862-6168G=) c.579G= (p.Val193=) c.61-6168G= (n.61-6168G=) c.442-6168G= (n.442-6168G=) | |
2 | g.233760866G>T | CA431960620 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6168G>T (n.856-6168G>T) c.868-6168G>T (n.868-6168G>T) c.862-6168G>T (n.862-6168G>T) c.579G>T (p.Val193=) c.61-6168G>T (n.61-6168G>T) c.442-6168G>T (n.442-6168G>T) | |
2 | g.233760867C>A | CA351067220 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6167C>A (n.856-6167C>A) c.868-6167C>A (n.868-6167C>A) c.862-6167C>A (n.862-6167C>A) c.580C>A (p.Pro194Thr) c.61-6167C>A (n.61-6167C>A) c.442-6167C>A (n.442-6167C>A) | |
2 | g.233760867C= | CA1335889585 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6167C= (n.856-6167C=) c.868-6167C= (n.868-6167C=) c.862-6167C= (n.862-6167C=) c.580C= (p.Pro194=) c.61-6167C= (n.61-6167C=) c.442-6167C= (n.442-6167C=) | |
2 | g.233760867C>G | CA351067222 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6167C>G (n.856-6167C>G) c.868-6167C>G (n.868-6167C>G) c.862-6167C>G (n.862-6167C>G) c.580C>G (p.Pro194Ala) c.61-6167C>G (n.61-6167C>G) c.442-6167C>G (n.442-6167C>G) | dbSNP |
2 | g.233760867C>T | CA67590181 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6167C>T (n.856-6167C>T) c.868-6167C>T (n.868-6167C>T) c.862-6167C>T (n.862-6167C>T) c.580C>T (p.Pro194Ser) c.61-6167C>T (n.61-6167C>T) c.442-6167C>T (n.442-6167C>T) | dbSNP gnomAD v4 |
2 | g.233760869del | CA2586965609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6165del (n.856-6165del) c.868-6165del (n.868-6165del) c.862-6165del (n.862-6165del) c.582del (p.Arg195GlyfsTer10) c.61-6165del (n.61-6165del) c.442-6165del (n.442-6165del) | |
2 | g.233760868C>A | CA351067230 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6166C>A (n.856-6166C>A) c.868-6166C>A (n.868-6166C>A) c.862-6166C>A (n.862-6166C>A) c.581C>A (p.Pro194His) c.61-6166C>A (n.61-6166C>A) c.442-6166C>A (n.442-6166C>A) | |
2 | g.233760868C= | CA1335889589 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6166C= (n.856-6166C=) c.868-6166C= (n.868-6166C=) c.862-6166C= (n.862-6166C=) c.581C= (p.Pro194=) c.61-6166C= (n.61-6166C=) c.442-6166C= (n.442-6166C=) | |
2 | g.233760868C>G | CA351067233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6166C>G (n.856-6166C>G) c.868-6166C>G (n.868-6166C>G) c.862-6166C>G (n.862-6166C>G) c.581C>G (p.Pro194Arg) c.61-6166C>G (n.61-6166C>G) c.442-6166C>G (n.442-6166C>G) | |
2 | g.233760868C>T | CA351067235 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6166C>T (n.856-6166C>T) c.868-6166C>T (n.868-6166C>T) c.862-6166C>T (n.862-6166C>T) c.581C>T (p.Pro194Leu) c.61-6166C>T (n.61-6166C>T) c.442-6166C>T (n.442-6166C>T) | dbSNP gnomAD v4 |
2 | g.233760869C>A | CA431960629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6165C>A (n.856-6165C>A) c.868-6165C>A (n.868-6165C>A) c.862-6165C>A (n.862-6165C>A) c.582C>A (p.Pro194=) c.61-6165C>A (n.61-6165C>A) c.442-6165C>A (n.442-6165C>A) | |
2 | g.233760869C>G | CA431960630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6165C>G (n.856-6165C>G) c.868-6165C>G (n.868-6165C>G) c.862-6165C>G (n.862-6165C>G) c.582C>G (p.Pro194=) c.61-6165C>G (n.61-6165C>G) c.442-6165C>G (n.442-6165C>G) | |
2 | g.233760869C>T | CA431960631 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6165C>T (n.856-6165C>T) c.868-6165C>T (n.868-6165C>T) c.862-6165C>T (n.862-6165C>T) c.582C>T (p.Pro194=) c.61-6165C>T (n.61-6165C>T) c.442-6165C>T (n.442-6165C>T) | |
2 | g.233760870A= | CA1335889591 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6164A= (n.856-6164A=) c.868-6164A= (n.868-6164A=) c.862-6164A= (n.862-6164A=) c.583A= (p.Arg195=) c.61-6164A= (n.61-6164A=) c.442-6164A= (n.442-6164A=) | |
2 | g.233760870A>C | CA431960632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6164A>C (n.856-6164A>C) c.868-6164A>C (n.868-6164A>C) c.862-6164A>C (n.862-6164A>C) c.583A>C (p.Arg195=) c.61-6164A>C (n.61-6164A>C) c.442-6164A>C (n.442-6164A>C) | |
2 | g.233760870A>G | CA2179848 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6164A>G (n.856-6164A>G) c.868-6164A>G (n.868-6164A>G) c.862-6164A>G (n.862-6164A>G) c.583A>G (p.Arg195Gly) c.61-6164A>G (n.61-6164A>G) c.442-6164A>G (n.442-6164A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760870A>T | CA351067247 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6164A>T (n.856-6164A>T) c.868-6164A>T (n.868-6164A>T) c.862-6164A>T (n.862-6164A>T) c.583A>T (p.Arg195Trp) c.61-6164A>T (n.61-6164A>T) c.442-6164A>T (n.442-6164A>T) | |
2 | g.233760871G>A | CA2179849 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6163G>A (n.856-6163G>A) c.868-6163G>A (n.868-6163G>A) c.862-6163G>A (n.862-6163G>A) c.584G>A (p.Arg195Lys) c.61-6163G>A (n.61-6163G>A) c.442-6163G>A (n.442-6163G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760871G>C | CA351067250 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6163G>C (n.856-6163G>C) c.868-6163G>C (n.868-6163G>C) c.862-6163G>C (n.862-6163G>C) c.584G>C (p.Arg195Thr) c.61-6163G>C (n.61-6163G>C) c.442-6163G>C (n.442-6163G>C) | |
2 | g.233760871G= | CA1335889594 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6163G= (n.856-6163G=) c.868-6163G= (n.868-6163G=) c.862-6163G= (n.862-6163G=) c.584G= (p.Arg195=) c.61-6163G= (n.61-6163G=) c.442-6163G= (n.442-6163G=) | |
2 | g.233760871G>T | CA351067253 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6163G>T (n.856-6163G>T) c.868-6163G>T (n.868-6163G>T) c.862-6163G>T (n.862-6163G>T) c.584G>T (p.Arg195Met) c.61-6163G>T (n.61-6163G>T) c.442-6163G>T (n.442-6163G>T) | |
2 | g.233760872G>A | CA431960635 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6162G>A (n.856-6162G>A) c.868-6162G>A (n.868-6162G>A) c.862-6162G>A (n.862-6162G>A) c.585G>A (p.Arg195=) c.61-6162G>A (n.61-6162G>A) c.442-6162G>A (n.442-6162G>A) | gnomAD v4 COSMIC COSMIC |
2 | g.233760872G>C | CA351067259 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6162G>C (n.856-6162G>C) c.868-6162G>C (n.868-6162G>C) c.862-6162G>C (n.862-6162G>C) c.585G>C (p.Arg195Ser) c.61-6162G>C (n.61-6162G>C) c.442-6162G>C (n.442-6162G>C) | gnomAD v4 |
2 | g.233760872G>T | CA351067268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6162G>T (n.856-6162G>T) c.868-6162G>T (n.868-6162G>T) c.862-6162G>T (n.862-6162G>T) c.585G>T (p.Arg195Ser) c.61-6162G>T (n.61-6162G>T) c.442-6162G>T (n.442-6162G>T) | |
2 | g.233760873C>A | CA351067271 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6161C>A (n.856-6161C>A) c.868-6161C>A (n.868-6161C>A) c.862-6161C>A (n.862-6161C>A) c.586C>A (p.Pro196Thr) c.61-6161C>A (n.61-6161C>A) c.442-6161C>A (n.442-6161C>A) | |
2 | g.233760873C>G | CA351067269 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6161C>G (n.856-6161C>G) c.868-6161C>G (n.868-6161C>G) c.862-6161C>G (n.862-6161C>G) c.586C>G (p.Pro196Ala) c.61-6161C>G (n.61-6161C>G) c.442-6161C>G (n.442-6161C>G) | gnomAD v4 |
2 | g.233760873C>T | CA351067270 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6161C>T (n.856-6161C>T) c.868-6161C>T (n.868-6161C>T) c.862-6161C>T (n.862-6161C>T) c.586C>T (p.Pro196Ser) c.61-6161C>T (n.61-6161C>T) c.442-6161C>T (n.442-6161C>T) | |
2 | g.233760874dup | CA2754693303 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6160dup (n.856-6160dup) c.868-6160dup (n.868-6160dup) c.862-6160dup (n.862-6160dup) c.587dup (p.Leu197SerfsTer?) c.61-6160dup (n.61-6160dup) c.442-6160dup (n.442-6160dup) | |
2 | g.233760874C>A | CA351067274 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6160C>A (n.856-6160C>A) c.868-6160C>A (n.868-6160C>A) c.862-6160C>A (n.862-6160C>A) c.587C>A (p.Pro196His) c.61-6160C>A (n.61-6160C>A) c.442-6160C>A (n.442-6160C>A) | |
2 | g.233760874C>G | CA351067275 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6160C>G (n.856-6160C>G) c.868-6160C>G (n.868-6160C>G) c.862-6160C>G (n.862-6160C>G) c.587C>G (p.Pro196Arg) c.61-6160C>G (n.61-6160C>G) c.442-6160C>G (n.442-6160C>G) | |
2 | g.233760874C>T | CA351067280 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6160C>T (n.856-6160C>T) c.868-6160C>T (n.868-6160C>T) c.862-6160C>T (n.862-6160C>T) c.587C>T (p.Pro196Leu) c.61-6160C>T (n.61-6160C>T) c.442-6160C>T (n.442-6160C>T) | gnomAD v4 |
2 | g.233760875T>A | CA431960641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6159T>A (n.856-6159T>A) c.868-6159T>A (n.868-6159T>A) c.862-6159T>A (n.862-6159T>A) c.588T>A (p.Pro196=) c.61-6159T>A (n.61-6159T>A) c.442-6159T>A (n.442-6159T>A) | |
2 | g.233760875T>C | CA431960642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6159T>C (n.856-6159T>C) c.868-6159T>C (n.868-6159T>C) c.862-6159T>C (n.862-6159T>C) c.588T>C (p.Pro196=) c.61-6159T>C (n.61-6159T>C) c.442-6159T>C (n.442-6159T>C) | |
2 | g.233760875T>G | CA431960644 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6159T>G (n.856-6159T>G) c.868-6159T>G (n.868-6159T>G) c.862-6159T>G (n.862-6159T>G) c.588T>G (p.Pro196=) c.61-6159T>G (n.61-6159T>G) c.442-6159T>G (n.442-6159T>G) | |
2 | g.233760876C>A | CA351067283 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6158C>A (n.856-6158C>A) c.868-6158C>A (n.868-6158C>A) c.862-6158C>A (n.862-6158C>A) c.589C>A (p.Leu197Ile) c.61-6158C>A (n.61-6158C>A) c.442-6158C>A (n.442-6158C>A) | |
2 | g.233760876C>G | CA351067285 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6158C>G (n.856-6158C>G) c.868-6158C>G (n.868-6158C>G) c.862-6158C>G (n.862-6158C>G) c.589C>G (p.Leu197Val) c.61-6158C>G (n.61-6158C>G) c.442-6158C>G (n.442-6158C>G) | |
2 | g.233760876C>T | CA351067286 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6158C>T (n.856-6158C>T) c.868-6158C>T (n.868-6158C>T) c.862-6158C>T (n.862-6158C>T) c.589C>T (p.Leu197Phe) c.61-6158C>T (n.61-6158C>T) c.442-6158C>T (n.442-6158C>T) | |
2 | g.233760877T>A | CA351067293 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6157T>A (n.856-6157T>A) c.868-6157T>A (n.868-6157T>A) c.862-6157T>A (n.862-6157T>A) c.590T>A (p.Leu197His) c.61-6157T>A (n.61-6157T>A) c.442-6157T>A (n.442-6157T>A) | |
2 | g.233760877T>C | CA351067294 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6157T>C (n.856-6157T>C) c.868-6157T>C (n.868-6157T>C) c.862-6157T>C (n.862-6157T>C) c.590T>C (p.Leu197Pro) c.61-6157T>C (n.61-6157T>C) c.442-6157T>C (n.442-6157T>C) | gnomAD v4 |
2 | g.233760877T>G | CA351067295 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6157T>G (n.856-6157T>G) c.868-6157T>G (n.868-6157T>G) c.862-6157T>G (n.862-6157T>G) c.590T>G (p.Leu197Arg) c.61-6157T>G (n.61-6157T>G) c.442-6157T>G (n.442-6157T>G) | |
2 | g.233760878C>A | CA431960649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6156C>A (n.856-6156C>A) c.868-6156C>A (n.868-6156C>A) c.862-6156C>A (n.862-6156C>A) c.591C>A (p.Leu197=) c.61-6156C>A (n.61-6156C>A) c.442-6156C>A (n.442-6156C>A) | dbSNP |
2 | g.233760878C= | CA1335889601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6156C= (n.856-6156C=) c.868-6156C= (n.868-6156C=) c.862-6156C= (n.862-6156C=) c.591C= (p.Leu197=) c.61-6156C= (n.61-6156C=) c.442-6156C= (n.442-6156C=) | |
2 | g.233760878C>G | CA431960650 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6156C>G (n.856-6156C>G) c.868-6156C>G (n.868-6156C>G) c.862-6156C>G (n.862-6156C>G) c.591C>G (p.Leu197=) c.61-6156C>G (n.61-6156C>G) c.442-6156C>G (n.442-6156C>G) | |
2 | g.233760878C>T | CA431960647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6156C>T (n.856-6156C>T) c.868-6156C>T (n.868-6156C>T) c.862-6156C>T (n.862-6156C>T) c.591C>T (p.Leu197=) c.61-6156C>T (n.61-6156C>T) c.442-6156C>T (n.442-6156C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760879T>A | CA351067296 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6155T>A (n.856-6155T>A) c.868-6155T>A (n.868-6155T>A) c.862-6155T>A (n.862-6155T>A) c.592T>A (p.Ser198Thr) c.61-6155T>A (n.61-6155T>A) c.442-6155T>A (n.442-6155T>A) | |
2 | g.233760879T>C | CA351067297 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6155T>C (n.856-6155T>C) c.868-6155T>C (n.868-6155T>C) c.862-6155T>C (n.862-6155T>C) c.592T>C (p.Ser198Pro) c.61-6155T>C (n.61-6155T>C) c.442-6155T>C (n.442-6155T>C) | ClinVar dbSNP |
2 | g.233760879T>G | CA351067299 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6155T>G (n.856-6155T>G) c.868-6155T>G (n.868-6155T>G) c.862-6155T>G (n.862-6155T>G) c.592T>G (p.Ser198Ala) c.61-6155T>G (n.61-6155T>G) c.442-6155T>G (n.442-6155T>G) | |
2 | g.233760879T= | CA1335889609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6155T= (n.856-6155T=) c.868-6155T= (n.868-6155T=) c.862-6155T= (n.862-6155T=) c.592T= (p.Ser198=) c.61-6155T= (n.61-6155T=) c.442-6155T= (n.442-6155T=) | |
2 | g.233760880C>A | CA351067304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6154C>A (n.856-6154C>A) c.868-6154C>A (n.868-6154C>A) c.862-6154C>A (n.862-6154C>A) c.593C>A (p.Ser198Tyr) c.61-6154C>A (n.61-6154C>A) c.442-6154C>A (n.442-6154C>A) | |
2 | g.233760880C>G | CA351067307 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6154C>G (n.856-6154C>G) c.868-6154C>G (n.868-6154C>G) c.862-6154C>G (n.862-6154C>G) c.593C>G (p.Ser198Cys) c.61-6154C>G (n.61-6154C>G) c.442-6154C>G (n.442-6154C>G) | |
2 | g.233760880C>T | CA351067302 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6154C>T (n.856-6154C>T) c.868-6154C>T (n.868-6154C>T) c.862-6154C>T (n.862-6154C>T) c.593C>T (p.Ser198Phe) c.61-6154C>T (n.61-6154C>T) c.442-6154C>T (n.442-6154C>T) | gnomAD v4 |
2 | g.233760881C>A | CA431960651 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6153C>A (n.856-6153C>A) c.868-6153C>A (n.868-6153C>A) c.862-6153C>A (n.862-6153C>A) c.594C>A (p.Ser198=) c.61-6153C>A (n.61-6153C>A) c.442-6153C>A (n.442-6153C>A) | |
2 | g.233760881C= | CA1335889616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6153C= (n.856-6153C=) c.868-6153C= (n.868-6153C=) c.862-6153C= (n.862-6153C=) c.594C= (p.Ser198=) c.61-6153C= (n.61-6153C=) c.442-6153C= (n.442-6153C=) | |
2 | g.233760881C>G | CA431960652 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6153C>G (n.856-6153C>G) c.868-6153C>G (n.868-6153C>G) c.862-6153C>G (n.862-6153C>G) c.594C>G (p.Ser198=) c.61-6153C>G (n.61-6153C>G) c.442-6153C>G (n.442-6153C>G) | |
2 | g.233760881C>T | CA67590199 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6153C>T (n.856-6153C>T) c.868-6153C>T (n.868-6153C>T) c.862-6153C>T (n.862-6153C>T) c.594C>T (p.Ser198=) c.61-6153C>T (n.61-6153C>T) c.442-6153C>T (n.442-6153C>T) | dbSNP gnomAD v4 |
2 | g.233760882T>A | CA351067315 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6152T>A (n.856-6152T>A) c.868-6152T>A (n.868-6152T>A) c.862-6152T>A (n.862-6152T>A) c.595T>A (p.Ser199Thr) c.61-6152T>A (n.61-6152T>A) c.442-6152T>A (n.442-6152T>A) | |
2 | g.233760882T>C | CA351067317 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6152T>C (n.856-6152T>C) c.868-6152T>C (n.868-6152T>C) c.862-6152T>C (n.862-6152T>C) c.595T>C (p.Ser199Pro) c.61-6152T>C (n.61-6152T>C) c.442-6152T>C (n.442-6152T>C) | |
2 | g.233760882T>G | CA351067319 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6152T>G (n.856-6152T>G) c.868-6152T>G (n.868-6152T>G) c.862-6152T>G (n.862-6152T>G) c.595T>G (p.Ser199Ala) c.61-6152T>G (n.61-6152T>G) c.442-6152T>G (n.442-6152T>G) | |
2 | g.233760883C>A | CA351067321 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6151C>A (n.856-6151C>A) c.868-6151C>A (n.868-6151C>A) c.862-6151C>A (n.862-6151C>A) c.596C>A (p.Ser199Tyr) c.61-6151C>A (n.61-6151C>A) c.442-6151C>A (n.442-6151C>A) | |
2 | g.233760883C= | CA1335889622 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6151C= (n.856-6151C=) c.868-6151C= (n.868-6151C=) c.862-6151C= (n.862-6151C=) c.596C= (p.Ser199=) c.61-6151C= (n.61-6151C=) c.442-6151C= (n.442-6151C=) | |
2 | g.233760883C>G | CA351067323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6151C>G (n.856-6151C>G) c.868-6151C>G (n.868-6151C>G) c.862-6151C>G (n.862-6151C>G) c.596C>G (p.Ser199Cys) c.61-6151C>G (n.61-6151C>G) c.442-6151C>G (n.442-6151C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760883C>T | CA2179850 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6151C>T (n.856-6151C>T) c.868-6151C>T (n.868-6151C>T) c.862-6151C>T (n.862-6151C>T) c.596C>T (p.Ser199Phe) c.61-6151C>T (n.61-6151C>T) c.442-6151C>T (n.442-6151C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.233760884T>A | CA431960659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6150T>A (n.856-6150T>A) c.868-6150T>A (n.868-6150T>A) c.862-6150T>A (n.862-6150T>A) c.597T>A (p.Ser199=) c.61-6150T>A (n.61-6150T>A) c.442-6150T>A (n.442-6150T>A) | gnomAD v4 |
2 | g.233760884T>C | CA431960658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6150T>C (n.856-6150T>C) c.868-6150T>C (n.868-6150T>C) c.862-6150T>C (n.862-6150T>C) c.597T>C (p.Ser199=) c.61-6150T>C (n.61-6150T>C) c.442-6150T>C (n.442-6150T>C) | |
2 | g.233760884T>G | CA431960661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6150T>G (n.856-6150T>G) c.868-6150T>G (n.868-6150T>G) c.862-6150T>G (n.862-6150T>G) c.597T>G (p.Ser199=) c.61-6150T>G (n.61-6150T>G) c.442-6150T>G (n.442-6150T>G) | |
2 | g.233760885C>A | CA351067325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6149C>A (n.856-6149C>A) c.868-6149C>A (n.868-6149C>A) c.862-6149C>A (n.862-6149C>A) c.598C>A (p.His200Asn) c.61-6149C>A (n.61-6149C>A) c.442-6149C>A (n.442-6149C>A) | |
2 | g.233760885C>G | CA351067326 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6149C>G (n.856-6149C>G) c.868-6149C>G (n.868-6149C>G) c.862-6149C>G (n.862-6149C>G) c.598C>G (p.His200Asp) c.61-6149C>G (n.61-6149C>G) c.442-6149C>G (n.442-6149C>G) | |
2 | g.233760885C>T | CA351067327 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6149C>T (n.856-6149C>T) c.868-6149C>T (n.868-6149C>T) c.862-6149C>T (n.862-6149C>T) c.598C>T (p.His200Tyr) c.61-6149C>T (n.61-6149C>T) c.442-6149C>T (n.442-6149C>T) | dbSNP |
2 | g.233760886A= | CA1335889629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6148A= (n.856-6148A=) c.868-6148A= (n.868-6148A=) c.862-6148A= (n.862-6148A=) c.599A= (p.His200=) c.61-6148A= (n.61-6148A=) c.442-6148A= (n.442-6148A=) | |
2 | g.233760886A>C | CA2179851 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6148A>C (n.856-6148A>C) c.868-6148A>C (n.868-6148A>C) c.862-6148A>C (n.862-6148A>C) c.599A>C (p.His200Pro) c.61-6148A>C (n.61-6148A>C) c.442-6148A>C (n.442-6148A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760886A>G | CA351067329 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6148A>G (n.856-6148A>G) c.868-6148A>G (n.868-6148A>G) c.862-6148A>G (n.862-6148A>G) c.599A>G (p.His200Arg) c.61-6148A>G (n.61-6148A>G) c.442-6148A>G (n.442-6148A>G) | |
2 | g.233760886A>T | CA351067330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6148A>T (n.856-6148A>T) c.868-6148A>T (n.868-6148A>T) c.862-6148A>T (n.862-6148A>T) c.599A>T (p.His200Leu) c.61-6148A>T (n.61-6148A>T) c.442-6148A>T (n.442-6148A>T) | |
2 | g.233760886_233760887delinsAT | CA1335889627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6148_856-6147delinsAT (n.856-6148_856-6147delinsAT) c.868-6148_868-6147delinsAT (n.868-6148_868-6147delinsAT) c.862-6148_862-6147delinsAT (n.862-6148_862-6147delinsAT) c.599_600delinsAT (p.His200=) c.61-6148_61-6147delinsAT (n.61-6148_61-6147delinsAT) c.442-6148_442-6147delinsAT (n.442-6148_442-6147delinsAT) | |
2 | g.233760887T>A | CA351067332 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6147T>A (n.856-6147T>A) c.868-6147T>A (n.868-6147T>A) c.862-6147T>A (n.862-6147T>A) c.600T>A (p.His200Gln) c.61-6147T>A (n.61-6147T>A) c.442-6147T>A (n.442-6147T>A) | |
2 | g.233760887T>C | CA431960669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6147T>C (n.856-6147T>C) c.868-6147T>C (n.868-6147T>C) c.862-6147T>C (n.862-6147T>C) c.600T>C (p.His200=) c.61-6147T>C (n.61-6147T>C) c.442-6147T>C (n.442-6147T>C) | |
2 | g.233760887T>G | CA351067331 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6147T>G (n.856-6147T>G) c.868-6147T>G (n.868-6147T>G) c.862-6147T>G (n.862-6147T>G) c.600T>G (p.His200Gln) c.61-6147T>G (n.61-6147T>G) c.442-6147T>G (n.442-6147T>G) | |
2 | g.233760888del | CA2179852 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6146del (n.856-6146del) c.868-6146del (n.868-6146del) c.862-6146del (n.862-6146del) c.601del (p.Ser201GlnfsTer4) c.61-6146del (n.61-6146del) c.442-6146del (n.442-6146del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760888T>A | CA351067335 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6146T>A (n.856-6146T>A) c.868-6146T>A (n.868-6146T>A) c.862-6146T>A (n.862-6146T>A) c.601T>A (p.Ser201Thr) c.61-6146T>A (n.61-6146T>A) c.442-6146T>A (n.442-6146T>A) | |
2 | g.233760888T>C | CA351067336 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6146T>C (n.856-6146T>C) c.868-6146T>C (n.868-6146T>C) c.862-6146T>C (n.862-6146T>C) c.601T>C (p.Ser201Pro) c.61-6146T>C (n.61-6146T>C) c.442-6146T>C (n.442-6146T>C) | |
2 | g.233760888T>G | CA351067338 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6146T>G (n.856-6146T>G) c.868-6146T>G (n.868-6146T>G) c.862-6146T>G (n.862-6146T>G) c.601T>G (p.Ser201Ala) c.61-6146T>G (n.61-6146T>G) c.442-6146T>G (n.442-6146T>G) | |
2 | g.233760889C>A | CA351067340 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6145C>A (n.856-6145C>A) c.868-6145C>A (n.868-6145C>A) c.862-6145C>A (n.862-6145C>A) c.602C>A (p.Ser201Ter) c.61-6145C>A (n.61-6145C>A) c.442-6145C>A (n.442-6145C>A) | |
2 | g.233760889C>G | CA351067342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6145C>G (n.856-6145C>G) c.868-6145C>G (n.868-6145C>G) c.862-6145C>G (n.862-6145C>G) c.602C>G (p.Ser201Ter) c.61-6145C>G (n.61-6145C>G) c.442-6145C>G (n.442-6145C>G) | |
2 | g.233760889C>T | CA351067343 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6145C>T (n.856-6145C>T) c.868-6145C>T (n.868-6145C>T) c.862-6145C>T (n.862-6145C>T) c.602C>T (p.Ser201Leu) c.61-6145C>T (n.61-6145C>T) c.442-6145C>T (n.442-6145C>T) | |
2 | g.233760890A= | CA1335889636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6144A= (n.856-6144A=) c.868-6144A= (n.868-6144A=) c.862-6144A= (n.862-6144A=) c.603A= (p.Ser201=) c.61-6144A= (n.61-6144A=) c.442-6144A= (n.442-6144A=) | |
2 | g.233760890A>C | CA431960675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6144A>C (n.856-6144A>C) c.868-6144A>C (n.868-6144A>C) c.862-6144A>C (n.862-6144A>C) c.603A>C (p.Ser201=) c.61-6144A>C (n.61-6144A>C) c.442-6144A>C (n.442-6144A>C) | |
2 | g.233760890A>G | CA2179853 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6144A>G (n.856-6144A>G) c.868-6144A>G (n.868-6144A>G) c.862-6144A>G (n.862-6144A>G) c.603A>G (p.Ser201=) c.61-6144A>G (n.61-6144A>G) c.442-6144A>G (n.442-6144A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760890A>T | CA431960676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6144A>T (n.856-6144A>T) c.868-6144A>T (n.868-6144A>T) c.862-6144A>T (n.862-6144A>T) c.603A>T (p.Ser201=) c.61-6144A>T (n.61-6144A>T) c.442-6144A>T (n.442-6144A>T) | |
2 | g.233760891G>A | CA351067346 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6143G>A (n.856-6143G>A) c.868-6143G>A (n.868-6143G>A) c.862-6143G>A (n.862-6143G>A) c.604G>A (p.Asp202Asn) c.61-6143G>A (n.61-6143G>A) c.442-6143G>A (n.442-6143G>A) | |
2 | g.233760891G>C | CA351067348 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6143G>C (n.856-6143G>C) c.868-6143G>C (n.868-6143G>C) c.862-6143G>C (n.862-6143G>C) c.604G>C (p.Asp202His) c.61-6143G>C (n.61-6143G>C) c.442-6143G>C (n.442-6143G>C) | dbSNP |
2 | g.233760891G= | CA1335889640 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6143G= (n.856-6143G=) c.868-6143G= (n.868-6143G=) c.862-6143G= (n.862-6143G=) c.604G= (p.Asp202=) c.61-6143G= (n.61-6143G=) c.442-6143G= (n.442-6143G=) | |
2 | g.233760891G>T | CA351067349 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6143G>T (n.856-6143G>T) c.868-6143G>T (n.868-6143G>T) c.862-6143G>T (n.862-6143G>T) c.604G>T (p.Asp202Tyr) c.61-6143G>T (n.61-6143G>T) c.442-6143G>T (n.442-6143G>T) | |
2 | g.233760892A>C | CA351067351 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6142A>C (n.856-6142A>C) c.868-6142A>C (n.868-6142A>C) c.862-6142A>C (n.862-6142A>C) c.605A>C (p.Asp202Ala) c.61-6142A>C (n.61-6142A>C) c.442-6142A>C (n.442-6142A>C) | |
2 | g.233760892A>G | CA351067353 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6142A>G (n.856-6142A>G) c.868-6142A>G (n.868-6142A>G) c.862-6142A>G (n.862-6142A>G) c.605A>G (p.Asp202Gly) c.61-6142A>G (n.61-6142A>G) c.442-6142A>G (n.442-6142A>G) | |
2 | g.233760892A>T | CA351067355 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6142A>T (n.856-6142A>T) c.868-6142A>T (n.868-6142A>T) c.862-6142A>T (n.862-6142A>T) c.605A>T (p.Asp202Val) c.61-6142A>T (n.61-6142A>T) c.442-6142A>T (n.442-6142A>T) | |
2 | g.233760893T>A | CA351067358 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6141T>A (n.856-6141T>A) c.868-6141T>A (n.868-6141T>A) c.862-6141T>A (n.862-6141T>A) c.606T>A (p.Asp202Glu) c.61-6141T>A (n.61-6141T>A) c.442-6141T>A (n.442-6141T>A) | |
2 | g.233760893T>C | CA431960683 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6141T>C (n.856-6141T>C) c.868-6141T>C (n.868-6141T>C) c.862-6141T>C (n.862-6141T>C) c.606T>C (p.Asp202=) c.61-6141T>C (n.61-6141T>C) c.442-6141T>C (n.442-6141T>C) | |
2 | g.233760893T>G | CA351067356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6141T>G (n.856-6141T>G) c.868-6141T>G (n.868-6141T>G) c.862-6141T>G (n.862-6141T>G) c.606T>G (p.Asp202Glu) c.61-6141T>G (n.61-6141T>G) c.442-6141T>G (n.442-6141T>G) | |
2 | g.233760894C>A | CA351067361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140C>A (n.856-6140C>A) c.868-6140C>A (n.868-6140C>A) c.862-6140C>A (n.862-6140C>A) c.607C>A (p.His203Asn) c.61-6140C>A (n.61-6140C>A) c.442-6140C>A (n.442-6140C>A) | gnomAD v4 |
2 | g.233760894C= | CA1335889642 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140C= (n.856-6140C=) c.868-6140C= (n.868-6140C=) c.862-6140C= (n.862-6140C=) c.607C= (p.His203=) c.61-6140C= (n.61-6140C=) c.442-6140C= (n.442-6140C=) | |
2 | g.233760894C>G | CA351067364 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140C>G (n.856-6140C>G) c.868-6140C>G (n.868-6140C>G) c.862-6140C>G (n.862-6140C>G) c.607C>G (p.His203Asp) c.61-6140C>G (n.61-6140C>G) c.442-6140C>G (n.442-6140C>G) | |
2 | g.233760894C>T | CA351067362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140C>T (n.856-6140C>T) c.868-6140C>T (n.868-6140C>T) c.862-6140C>T (n.862-6140C>T) c.607C>T (p.His203Tyr) c.61-6140C>T (n.61-6140C>T) c.442-6140C>T (n.442-6140C>T) | dbSNP gnomAD v4 |
2 | g.233760894_233760918delinsCACATGACCTTCCTGCAGCGGGTGA | CA1335889643 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.856-6140_856-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.868-6140_868-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.862-6140_862-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.607_631delinsCACATGACCTTCCTGCAGCGGGTGA (p.His203=) c.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.61-6140_61-6116delinsCACATGACCTTCCTGCAGCGGGTGA) c.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA (n.442-6140_442-6116delinsCACATGACCTTCCTGCAGCGGGTGA) | |
2 | g.233760895A>C | CA351067366 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6139A>C (n.856-6139A>C) c.868-6139A>C (n.868-6139A>C) c.862-6139A>C (n.862-6139A>C) c.608A>C (p.His203Pro) c.61-6139A>C (n.61-6139A>C) c.442-6139A>C (n.442-6139A>C) | |
2 | g.233760895A>G | CA351067368 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6139A>G (n.856-6139A>G) c.868-6139A>G (n.868-6139A>G) c.862-6139A>G (n.862-6139A>G) c.608A>G (p.His203Arg) c.61-6139A>G (n.61-6139A>G) c.442-6139A>G (n.442-6139A>G) | |
2 | g.233760895A>T | CA351067369 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6139A>T (n.856-6139A>T) c.868-6139A>T (n.868-6139A>T) c.862-6139A>T (n.862-6139A>T) c.608A>T (p.His203Leu) c.61-6139A>T (n.61-6139A>T) c.442-6139A>T (n.442-6139A>T) | |
2 | g.233760896_233760919del | CA645372713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6138_856-6115del (n.856-6138_856-6115del) c.868-6138_868-6115del (n.868-6138_868-6115del) c.862-6138_862-6115del (n.862-6138_862-6115del) c.609_632del (p.His203_Lys211delinsGln) c.61-6138_61-6115del (n.61-6138_61-6115del) c.442-6138_442-6115del (n.442-6138_442-6115del) | ClinVar dbSNP gnomAD v4 |
2 | g.233760896C>A | CA351067371 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6138C>A (n.856-6138C>A) c.868-6138C>A (n.868-6138C>A) c.862-6138C>A (n.862-6138C>A) c.609C>A (p.His203Gln) c.61-6138C>A (n.61-6138C>A) c.442-6138C>A (n.442-6138C>A) | COSMIC |
2 | g.233760896C>G | CA351067373 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6138C>G (n.856-6138C>G) c.868-6138C>G (n.868-6138C>G) c.862-6138C>G (n.862-6138C>G) c.609C>G (p.His203Gln) c.61-6138C>G (n.61-6138C>G) c.442-6138C>G (n.442-6138C>G) | |
2 | g.233760896C>T | CA431960689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6138C>T (n.856-6138C>T) c.868-6138C>T (n.868-6138C>T) c.862-6138C>T (n.862-6138C>T) c.609C>T (p.His203=) c.61-6138C>T (n.61-6138C>T) c.442-6138C>T (n.442-6138C>T) | |
2 | g.233760897A>C | CA351067375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6137A>C (n.856-6137A>C) c.868-6137A>C (n.868-6137A>C) c.862-6137A>C (n.862-6137A>C) c.610A>C (p.Met204Leu) c.61-6137A>C (n.61-6137A>C) c.442-6137A>C (n.442-6137A>C) | |
2 | g.233760897A>G | CA351067376 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6137A>G (n.856-6137A>G) c.868-6137A>G (n.868-6137A>G) c.862-6137A>G (n.862-6137A>G) c.610A>G (p.Met204Val) c.61-6137A>G (n.61-6137A>G) c.442-6137A>G (n.442-6137A>G) | COSMIC COSMIC |
2 | g.233760897A>T | CA351067378 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6137A>T (n.856-6137A>T) c.868-6137A>T (n.868-6137A>T) c.862-6137A>T (n.862-6137A>T) c.610A>T (p.Met204Leu) c.61-6137A>T (n.61-6137A>T) c.442-6137A>T (n.442-6137A>T) | |
2 | g.233760898T>A | CA351067380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6136T>A (n.856-6136T>A) c.868-6136T>A (n.868-6136T>A) c.862-6136T>A (n.862-6136T>A) c.611T>A (p.Met204Lys) c.61-6136T>A (n.61-6136T>A) c.442-6136T>A (n.442-6136T>A) | |
2 | g.233760898T>C | CA351067381 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6136T>C (n.856-6136T>C) c.868-6136T>C (n.868-6136T>C) c.862-6136T>C (n.862-6136T>C) c.611T>C (p.Met204Thr) c.61-6136T>C (n.61-6136T>C) c.442-6136T>C (n.442-6136T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760898T>G | CA351067382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6136T>G (n.856-6136T>G) c.868-6136T>G (n.868-6136T>G) c.862-6136T>G (n.862-6136T>G) c.611T>G (p.Met204Arg) c.61-6136T>G (n.61-6136T>G) c.442-6136T>G (n.442-6136T>G) | dbSNP |
2 | g.233760898T= | CA1335889649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6136T= (n.856-6136T=) c.868-6136T= (n.868-6136T=) c.862-6136T= (n.862-6136T=) c.611T= (p.Met204=) c.61-6136T= (n.61-6136T=) c.442-6136T= (n.442-6136T=) | |
2 | g.233760899G>A | CA351067388 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>A (n.856-6135G>A) c.868-6135G>A (n.868-6135G>A) c.862-6135G>A (n.862-6135G>A) c.612G>A (p.Met204Ile) c.61-6135G>A (n.61-6135G>A) c.442-6135G>A (n.442-6135G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760899G>C | CA351067386 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>C (n.856-6135G>C) c.868-6135G>C (n.868-6135G>C) c.862-6135G>C (n.862-6135G>C) c.612G>C (p.Met204Ile) c.61-6135G>C (n.61-6135G>C) c.442-6135G>C (n.442-6135G>C) | |
2 | g.233760899G= | CA1335889655 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G= (n.856-6135G=) c.868-6135G= (n.868-6135G=) c.862-6135G= (n.862-6135G=) c.612G= (p.Met204=) c.61-6135G= (n.61-6135G=) c.442-6135G= (n.442-6135G=) | |
2 | g.233760899G>T | CA351067384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6135G>T (n.856-6135G>T) c.868-6135G>T (n.868-6135G>T) c.862-6135G>T (n.862-6135G>T) c.612G>T (p.Met204Ile) c.61-6135G>T (n.61-6135G>T) c.442-6135G>T (n.442-6135G>T) | |
2 | g.233760900A>C | CA351067390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>C (n.856-6134A>C) c.868-6134A>C (n.868-6134A>C) c.862-6134A>C (n.862-6134A>C) c.613A>C (p.Thr205Pro) c.61-6134A>C (n.61-6134A>C) c.442-6134A>C (n.442-6134A>C) | |
2 | g.233760900A>G | CA351067392 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>G (n.856-6134A>G) c.868-6134A>G (n.868-6134A>G) c.862-6134A>G (n.862-6134A>G) c.613A>G (p.Thr205Ala) c.61-6134A>G (n.61-6134A>G) c.442-6134A>G (n.442-6134A>G) | gnomAD v4 |
2 | g.233760900A>T | CA351067393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134A>T (n.856-6134A>T) c.868-6134A>T (n.868-6134A>T) c.862-6134A>T (n.862-6134A>T) c.613A>T (p.Thr205Ser) c.61-6134A>T (n.61-6134A>T) c.442-6134A>T (n.442-6134A>T) | |
2 | g.233760900_233760901delinsAC | CA1335889658 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6134_856-6133delinsAC (n.856-6134_856-6133delinsAC) c.868-6134_868-6133delinsAC (n.868-6134_868-6133delinsAC) c.862-6134_862-6133delinsAC (n.862-6134_862-6133delinsAC) c.613_614delinsAC (p.Thr205=) c.61-6134_61-6133delinsAC (n.61-6134_61-6133delinsAC) c.442-6134_442-6133delinsAC (n.442-6134_442-6133delinsAC) | |
2 | g.233760901C>A | CA351067395 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>A (n.856-6133C>A) c.868-6133C>A (n.868-6133C>A) c.862-6133C>A (n.862-6133C>A) c.614C>A (p.Thr205Asn) c.61-6133C>A (n.61-6133C>A) c.442-6133C>A (n.442-6133C>A) | |
2 | g.233760901C= | CA1335889662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C= (n.856-6133C=) c.868-6133C= (n.868-6133C=) c.862-6133C= (n.862-6133C=) c.614C= (p.Thr205=) c.61-6133C= (n.61-6133C=) c.442-6133C= (n.442-6133C=) | |
2 | g.233760901C>G | CA351067397 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>G (n.856-6133C>G) c.868-6133C>G (n.868-6133C>G) c.862-6133C>G (n.862-6133C>G) c.614C>G (p.Thr205Ser) c.61-6133C>G (n.61-6133C>G) c.442-6133C>G (n.442-6133C>G) | |
2 | g.233760901C>T | CA2179854 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6133C>T (n.856-6133C>T) c.868-6133C>T (n.868-6133C>T) c.862-6133C>T (n.862-6133C>T) c.614C>T (p.Thr205Ile) c.61-6133C>T (n.61-6133C>T) c.442-6133C>T (n.442-6133C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760902del | CA1043554932 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132del (n.856-6132del) c.868-6132del (n.868-6132del) c.862-6132del (n.862-6132del) c.615del (p.Phe206SerfsTer5) c.61-6132del (n.61-6132del) c.442-6132del (n.442-6132del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760902C>A | CA431960785 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>A (n.856-6132C>A) c.868-6132C>A (n.868-6132C>A) c.862-6132C>A (n.862-6132C>A) c.615C>A (p.Thr205=) c.61-6132C>A (n.61-6132C>A) c.442-6132C>A (n.442-6132C>A) | |
2 | g.233760902C= | CA1335889664 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C= (n.856-6132C=) c.868-6132C= (n.868-6132C=) c.862-6132C= (n.862-6132C=) c.615C= (p.Thr205=) c.61-6132C= (n.61-6132C=) c.442-6132C= (n.442-6132C=) | |
2 | g.233760902C>G | CA431960787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>G (n.856-6132C>G) c.868-6132C>G (n.868-6132C>G) c.862-6132C>G (n.862-6132C>G) c.615C>G (p.Thr205=) c.61-6132C>G (n.61-6132C>G) c.442-6132C>G (n.442-6132C>G) | |
2 | g.233760902C>T | CA431960786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6132C>T (n.856-6132C>T) c.868-6132C>T (n.868-6132C>T) c.862-6132C>T (n.862-6132C>T) c.615C>T (p.Thr205=) c.61-6132C>T (n.61-6132C>T) c.442-6132C>T (n.442-6132C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760903T>A | CA351067400 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>A (n.856-6131T>A) c.868-6131T>A (n.868-6131T>A) c.862-6131T>A (n.862-6131T>A) c.616T>A (p.Phe206Ile) c.61-6131T>A (n.61-6131T>A) c.442-6131T>A (n.442-6131T>A) | |
2 | g.233760903T>C | CA351067402 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>C (n.856-6131T>C) c.868-6131T>C (n.868-6131T>C) c.862-6131T>C (n.862-6131T>C) c.616T>C (p.Phe206Leu) c.61-6131T>C (n.61-6131T>C) c.442-6131T>C (n.442-6131T>C) | |
2 | g.233760903T>G | CA351067404 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6131T>G (n.856-6131T>G) c.868-6131T>G (n.868-6131T>G) c.862-6131T>G (n.862-6131T>G) c.616T>G (p.Phe206Val) c.61-6131T>G (n.61-6131T>G) c.442-6131T>G (n.442-6131T>G) | |
2 | g.233760904T>A | CA351067409 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>A (n.856-6130T>A) c.868-6130T>A (n.868-6130T>A) c.862-6130T>A (n.862-6130T>A) c.617T>A (p.Phe206Tyr) c.61-6130T>A (n.61-6130T>A) c.442-6130T>A (n.442-6130T>A) | |
2 | g.233760904T>C | CA351067411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>C (n.856-6130T>C) c.868-6130T>C (n.868-6130T>C) c.862-6130T>C (n.862-6130T>C) c.617T>C (p.Phe206Ser) c.61-6130T>C (n.61-6130T>C) c.442-6130T>C (n.442-6130T>C) | |
2 | g.233760904T>G | CA351067412 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6130T>G (n.856-6130T>G) c.868-6130T>G (n.868-6130T>G) c.862-6130T>G (n.862-6130T>G) c.617T>G (p.Phe206Cys) c.61-6130T>G (n.61-6130T>G) c.442-6130T>G (n.442-6130T>G) | |
2 | g.233760905C>A | CA351067414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>A (n.856-6129C>A) c.868-6129C>A (n.868-6129C>A) c.862-6129C>A (n.862-6129C>A) c.618C>A (p.Phe206Leu) c.61-6129C>A (n.61-6129C>A) c.442-6129C>A (n.442-6129C>A) | |
2 | g.233760905C>G | CA351067416 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>G (n.856-6129C>G) c.868-6129C>G (n.868-6129C>G) c.862-6129C>G (n.862-6129C>G) c.618C>G (p.Phe206Leu) c.61-6129C>G (n.61-6129C>G) c.442-6129C>G (n.442-6129C>G) | |
2 | g.233760905C>T | CA431960788 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6129C>T (n.856-6129C>T) c.868-6129C>T (n.868-6129C>T) c.862-6129C>T (n.862-6129C>T) c.618C>T (p.Phe206=) c.61-6129C>T (n.61-6129C>T) c.442-6129C>T (n.442-6129C>T) | |
2 | g.233760906C>A | CA351067418 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>A (n.856-6128C>A) c.868-6128C>A (n.868-6128C>A) c.862-6128C>A (n.862-6128C>A) c.619C>A (p.Leu207Met) c.61-6128C>A (n.61-6128C>A) c.442-6128C>A (n.442-6128C>A) | |
2 | g.233760906C>G | CA351067420 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>G (n.856-6128C>G) c.868-6128C>G (n.868-6128C>G) c.862-6128C>G (n.862-6128C>G) c.619C>G (p.Leu207Val) c.61-6128C>G (n.61-6128C>G) c.442-6128C>G (n.442-6128C>G) | |
2 | g.233760906C>T | CA431960789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6128C>T (n.856-6128C>T) c.868-6128C>T (n.868-6128C>T) c.862-6128C>T (n.862-6128C>T) c.619C>T (p.Leu207=) c.61-6128C>T (n.61-6128C>T) c.442-6128C>T (n.442-6128C>T) | |
2 | g.233760907T>A | CA351067422 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>A (n.856-6127T>A) c.868-6127T>A (n.868-6127T>A) c.862-6127T>A (n.862-6127T>A) c.620T>A (p.Leu207Gln) c.61-6127T>A (n.61-6127T>A) c.442-6127T>A (n.442-6127T>A) | gnomAD v4 |
2 | g.233760907T>C | CA351067429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>C (n.856-6127T>C) c.868-6127T>C (n.868-6127T>C) c.862-6127T>C (n.862-6127T>C) c.620T>C (p.Leu207Pro) c.61-6127T>C (n.61-6127T>C) c.442-6127T>C (n.442-6127T>C) | |
2 | g.233760907T>G | CA351067426 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6127T>G (n.856-6127T>G) c.868-6127T>G (n.868-6127T>G) c.862-6127T>G (n.862-6127T>G) c.620T>G (p.Leu207Arg) c.61-6127T>G (n.61-6127T>G) c.442-6127T>G (n.442-6127T>G) | |
2 | g.233760908G>A | CA431960791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>A (n.856-6126G>A) c.868-6126G>A (n.868-6126G>A) c.862-6126G>A (n.862-6126G>A) c.621G>A (p.Leu207=) c.61-6126G>A (n.61-6126G>A) c.442-6126G>A (n.442-6126G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760908G>C | CA431960790 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>C (n.856-6126G>C) c.868-6126G>C (n.868-6126G>C) c.862-6126G>C (n.862-6126G>C) c.621G>C (p.Leu207=) c.61-6126G>C (n.61-6126G>C) c.442-6126G>C (n.442-6126G>C) | |
2 | g.233760908G= | CA1335889669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G= (n.856-6126G=) c.868-6126G= (n.868-6126G=) c.862-6126G= (n.862-6126G=) c.621G= (p.Leu207=) c.61-6126G= (n.61-6126G=) c.442-6126G= (n.442-6126G=) | |
2 | g.233760908G>T | CA431960792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6126G>T (n.856-6126G>T) c.868-6126G>T (n.868-6126G>T) c.862-6126G>T (n.862-6126G>T) c.621G>T (p.Leu207=) c.61-6126G>T (n.61-6126G>T) c.442-6126G>T (n.442-6126G>T) | |
2 | g.233760909C>A | CA351067432 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>A (n.856-6125C>A) c.868-6125C>A (n.868-6125C>A) c.862-6125C>A (n.862-6125C>A) c.622C>A (p.Gln208Lys) c.61-6125C>A (n.61-6125C>A) c.442-6125C>A (n.442-6125C>A) | |
2 | g.233760909C>G | CA351067433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>G (n.856-6125C>G) c.868-6125C>G (n.868-6125C>G) c.862-6125C>G (n.862-6125C>G) c.622C>G (p.Gln208Glu) c.61-6125C>G (n.61-6125C>G) c.442-6125C>G (n.442-6125C>G) | |
2 | g.233760909C>T | CA351067430 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125C>T (n.856-6125C>T) c.868-6125C>T (n.868-6125C>T) c.862-6125C>T (n.862-6125C>T) c.622C>T (p.Gln208Ter) c.61-6125C>T (n.61-6125C>T) c.442-6125C>T (n.442-6125C>T) | dbSNP |
2 | g.233760909_233760912dup | CA2179855 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6125_856-6122dup (n.856-6125_856-6122dup) c.868-6125_868-6122dup (n.868-6125_868-6122dup) c.862-6125_862-6122dup (n.862-6125_862-6122dup) c.622_625dup (p.Arg209ProfsTer?) c.61-6125_61-6122dup (n.61-6125_61-6122dup) c.442-6125_442-6122dup (n.442-6125_442-6122dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760910A= | CA1335889675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A= (n.856-6124A=) c.868-6124A= (n.868-6124A=) c.862-6124A= (n.862-6124A=) c.623A= (p.Gln208=) c.61-6124A= (n.61-6124A=) c.442-6124A= (n.442-6124A=) | |
2 | g.233760910A>C | CA351067439 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>C (n.856-6124A>C) c.868-6124A>C (n.868-6124A>C) c.862-6124A>C (n.862-6124A>C) c.623A>C (p.Gln208Pro) c.61-6124A>C (n.61-6124A>C) c.442-6124A>C (n.442-6124A>C) | |
2 | g.233760910A>G | CA351067436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>G (n.856-6124A>G) c.868-6124A>G (n.868-6124A>G) c.862-6124A>G (n.862-6124A>G) c.623A>G (p.Gln208Arg) c.61-6124A>G (n.61-6124A>G) c.442-6124A>G (n.442-6124A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760910A>T | CA351067437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6124A>T (n.856-6124A>T) c.868-6124A>T (n.868-6124A>T) c.862-6124A>T (n.862-6124A>T) c.623A>T (p.Gln208Leu) c.61-6124A>T (n.61-6124A>T) c.442-6124A>T (n.442-6124A>T) | |
2 | g.233760911G>A | CA431960793 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>A (n.856-6123G>A) c.868-6123G>A (n.868-6123G>A) c.862-6123G>A (n.862-6123G>A) c.624G>A (p.Gln208=) c.61-6123G>A (n.61-6123G>A) c.442-6123G>A (n.442-6123G>A) | |
2 | g.233760911G>C | CA351067440 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>C (n.856-6123G>C) c.868-6123G>C (n.868-6123G>C) c.862-6123G>C (n.862-6123G>C) c.624G>C (p.Gln208His) c.61-6123G>C (n.61-6123G>C) c.442-6123G>C (n.442-6123G>C) | |
2 | g.233760911G>T | CA351067441 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6123G>T (n.856-6123G>T) c.868-6123G>T (n.868-6123G>T) c.862-6123G>T (n.862-6123G>T) c.624G>T (p.Gln208His) c.61-6123G>T (n.61-6123G>T) c.442-6123G>T (n.442-6123G>T) | |
2 | g.233760912C>A | CA2179858 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>A (n.856-6122C>A) c.868-6122C>A (n.868-6122C>A) c.862-6122C>A (n.862-6122C>A) c.625C>A (p.Arg209=) c.61-6122C>A (n.61-6122C>A) c.442-6122C>A (n.442-6122C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760912C= | CA1335889678 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C= (n.856-6122C=) c.868-6122C= (n.868-6122C=) c.862-6122C= (n.862-6122C=) c.625C= (p.Arg209=) c.61-6122C= (n.61-6122C=) c.442-6122C= (n.442-6122C=) | |
2 | g.233760912C>G | CA2179857 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>G (n.856-6122C>G) c.868-6122C>G (n.868-6122C>G) c.862-6122C>G (n.862-6122C>G) c.625C>G (p.Arg209Gly) c.61-6122C>G (n.61-6122C>G) c.442-6122C>G (n.442-6122C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760912C>T | CA2179856 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6122C>T (n.856-6122C>T) c.868-6122C>T (n.868-6122C>T) c.862-6122C>T (n.862-6122C>T) c.625C>T (p.Arg209Trp) c.61-6122C>T (n.61-6122C>T) c.442-6122C>T (n.442-6122C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760913G>A | CA2179859 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>A (n.856-6121G>A) c.868-6121G>A (n.868-6121G>A) c.862-6121G>A (n.862-6121G>A) c.626G>A (p.Arg209Gln) c.61-6121G>A (n.61-6121G>A) c.442-6121G>A (n.442-6121G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.233760913G>C | CA67590213 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>C (n.856-6121G>C) c.868-6121G>C (n.868-6121G>C) c.862-6121G>C (n.862-6121G>C) c.626G>C (p.Arg209Pro) c.61-6121G>C (n.61-6121G>C) c.442-6121G>C (n.442-6121G>C) | dbSNP |
2 | g.233760913G= | CA1335889686 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G= (n.856-6121G=) c.868-6121G= (n.868-6121G=) c.862-6121G= (n.862-6121G=) c.626G= (p.Arg209=) c.61-6121G= (n.61-6121G=) c.442-6121G= (n.442-6121G=) | |
2 | g.233760913G>T | CA351067445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6121G>T (n.856-6121G>T) c.868-6121G>T (n.868-6121G>T) c.862-6121G>T (n.862-6121G>T) c.626G>T (p.Arg209Leu) c.61-6121G>T (n.61-6121G>T) c.442-6121G>T (n.442-6121G>T) | COSMIC COSMIC |
2 | g.233760914_233760915del | CA2577284382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120_856-6119del (n.856-6120_856-6119del) c.868-6120_868-6119del (n.868-6120_868-6119del) c.862-6120_862-6119del (n.862-6120_862-6119del) c.627_628del (p.Val210GlufsTer?) c.61-6120_61-6119del (n.61-6120_61-6119del) c.442-6120_442-6119del (n.442-6120_442-6119del) | |
2 | g.233760914G>A | CA431960795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>A (n.856-6120G>A) c.868-6120G>A (n.868-6120G>A) c.862-6120G>A (n.862-6120G>A) c.627G>A (p.Arg209=) c.61-6120G>A (n.61-6120G>A) c.442-6120G>A (n.442-6120G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760914G>C | CA431960796 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>C (n.856-6120G>C) c.868-6120G>C (n.868-6120G>C) c.862-6120G>C (n.862-6120G>C) c.627G>C (p.Arg209=) c.61-6120G>C (n.61-6120G>C) c.442-6120G>C (n.442-6120G>C) | |
2 | g.233760914G= | CA1335889689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G= (n.856-6120G=) c.868-6120G= (n.868-6120G=) c.862-6120G= (n.862-6120G=) c.627G= (p.Arg209=) c.61-6120G= (n.61-6120G=) c.442-6120G= (n.442-6120G=) | |
2 | g.233760914G>T | CA431960794 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6120G>T (n.856-6120G>T) c.868-6120G>T (n.868-6120G>T) c.862-6120G>T (n.862-6120G>T) c.627G>T (p.Arg209=) c.61-6120G>T (n.61-6120G>T) c.442-6120G>T (n.442-6120G>T) | |
2 | g.233760915G>A | CA2179860 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>A (n.856-6119G>A) c.868-6119G>A (n.868-6119G>A) c.862-6119G>A (n.862-6119G>A) c.628G>A (p.Val210Met) c.61-6119G>A (n.61-6119G>A) c.442-6119G>A (n.442-6119G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233760915G>C | CA351067449 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>C (n.856-6119G>C) c.868-6119G>C (n.868-6119G>C) c.862-6119G>C (n.862-6119G>C) c.628G>C (p.Val210Leu) c.61-6119G>C (n.61-6119G>C) c.442-6119G>C (n.442-6119G>C) | dbSNP |
2 | g.233760915G= | CA1335889691 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G= (n.856-6119G=) c.868-6119G= (n.868-6119G=) c.862-6119G= (n.862-6119G=) c.628G= (p.Val210=) c.61-6119G= (n.61-6119G=) c.442-6119G= (n.442-6119G=) | |
2 | g.233760915G>T | CA351067447 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6119G>T (n.856-6119G>T) c.868-6119G>T (n.868-6119G>T) c.862-6119G>T (n.862-6119G>T) c.628G>T (p.Val210Leu) c.61-6119G>T (n.61-6119G>T) c.442-6119G>T (n.442-6119G>T) | COSMIC |
2 | g.233760916del | CA2663717549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118del (n.856-6118del) c.868-6118del (n.868-6118del) c.862-6118del (n.862-6118del) c.629del (p.Val210GlyfsTer?) c.61-6118del (n.61-6118del) c.442-6118del (n.442-6118del) | gnomAD v4 |
2 | g.233760916T>A | CA351067452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>A (n.856-6118T>A) c.868-6118T>A (n.868-6118T>A) c.862-6118T>A (n.862-6118T>A) c.629T>A (p.Val210Glu) c.61-6118T>A (n.61-6118T>A) c.442-6118T>A (n.442-6118T>A) | |
2 | g.233760916T>C | CA351067457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>C (n.856-6118T>C) c.868-6118T>C (n.868-6118T>C) c.862-6118T>C (n.862-6118T>C) c.629T>C (p.Val210Ala) c.61-6118T>C (n.61-6118T>C) c.442-6118T>C (n.442-6118T>C) | |
2 | g.233760916T>G | CA351067458 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T>G (n.856-6118T>G) c.868-6118T>G (n.868-6118T>G) c.862-6118T>G (n.862-6118T>G) c.629T>G (p.Val210Gly) c.61-6118T>G (n.61-6118T>G) c.442-6118T>G (n.442-6118T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760916T= | CA1335889692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6118T= (n.856-6118T=) c.868-6118T= (n.868-6118T=) c.862-6118T= (n.862-6118T=) c.629T= (p.Val210=) c.61-6118T= (n.61-6118T=) c.442-6118T= (n.442-6118T=) | |
2 | g.233760917G>A | CA431960797 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>A (n.856-6117G>A) c.868-6117G>A (n.868-6117G>A) c.862-6117G>A (n.862-6117G>A) c.630G>A (p.Val210=) c.61-6117G>A (n.61-6117G>A) c.442-6117G>A (n.442-6117G>A) | |
2 | g.233760917G>C | CA431960799 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>C (n.856-6117G>C) c.868-6117G>C (n.868-6117G>C) c.862-6117G>C (n.862-6117G>C) c.630G>C (p.Val210=) c.61-6117G>C (n.61-6117G>C) c.442-6117G>C (n.442-6117G>C) | |
2 | g.233760917G>T | CA431960798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6117G>T (n.856-6117G>T) c.868-6117G>T (n.868-6117G>T) c.862-6117G>T (n.862-6117G>T) c.630G>T (p.Val210=) c.61-6117G>T (n.61-6117G>T) c.442-6117G>T (n.442-6117G>T) | |
2 | g.233760918A>C | CA351067460 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>C (n.856-6116A>C) c.868-6116A>C (n.868-6116A>C) c.862-6116A>C (n.862-6116A>C) c.631A>C (p.Lys211Gln) c.61-6116A>C (n.61-6116A>C) c.442-6116A>C (n.442-6116A>C) | |
2 | g.233760918A>G | CA351067462 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>G (n.856-6116A>G) c.868-6116A>G (n.868-6116A>G) c.862-6116A>G (n.862-6116A>G) c.631A>G (p.Lys211Glu) c.61-6116A>G (n.61-6116A>G) c.442-6116A>G (n.442-6116A>G) | |
2 | g.233760918A>T | CA351067464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6116A>T (n.856-6116A>T) c.868-6116A>T (n.868-6116A>T) c.862-6116A>T (n.862-6116A>T) c.631A>T (p.Lys211Ter) c.61-6116A>T (n.61-6116A>T) c.442-6116A>T (n.442-6116A>T) | |
2 | g.233760919A>C | CA351067466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>C (n.856-6115A>C) c.868-6115A>C (n.868-6115A>C) c.862-6115A>C (n.862-6115A>C) c.632A>C (p.Lys211Thr) c.61-6115A>C (n.61-6115A>C) c.442-6115A>C (n.442-6115A>C) | |
2 | g.233760919A>G | CA351067468 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>G (n.856-6115A>G) c.868-6115A>G (n.868-6115A>G) c.862-6115A>G (n.862-6115A>G) c.632A>G (p.Lys211Arg) c.61-6115A>G (n.61-6115A>G) c.442-6115A>G (n.442-6115A>G) | |
2 | g.233760919A>T | CA351067469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6115A>T (n.856-6115A>T) c.868-6115A>T (n.868-6115A>T) c.862-6115A>T (n.862-6115A>T) c.632A>T (p.Lys211Met) c.61-6115A>T (n.61-6115A>T) c.442-6115A>T (n.442-6115A>T) | |
2 | g.233760920G>A | CA431960800 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>A (n.856-6114G>A) c.868-6114G>A (n.868-6114G>A) c.862-6114G>A (n.862-6114G>A) c.633G>A (p.Lys211=) c.61-6114G>A (n.61-6114G>A) c.442-6114G>A (n.442-6114G>A) | |
2 | g.233760920G>C | CA351067470 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>C (n.856-6114G>C) c.868-6114G>C (n.868-6114G>C) c.862-6114G>C (n.862-6114G>C) c.633G>C (p.Lys211Asn) c.61-6114G>C (n.61-6114G>C) c.442-6114G>C (n.442-6114G>C) | |
2 | g.233760920G>T | CA351067471 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6114G>T (n.856-6114G>T) c.868-6114G>T (n.868-6114G>T) c.862-6114G>T (n.862-6114G>T) c.633G>T (p.Lys211Asn) c.61-6114G>T (n.61-6114G>T) c.442-6114G>T (n.442-6114G>T) | |
2 | g.233760921A>C | CA351067474 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>C (n.856-6113A>C) c.868-6113A>C (n.868-6113A>C) c.862-6113A>C (n.862-6113A>C) c.634A>C (p.Asn212His) c.61-6113A>C (n.61-6113A>C) c.442-6113A>C (n.442-6113A>C) | |
2 | g.233760921A>G | CA351067475 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>G (n.856-6113A>G) c.868-6113A>G (n.868-6113A>G) c.862-6113A>G (n.862-6113A>G) c.634A>G (p.Asn212Asp) c.61-6113A>G (n.61-6113A>G) c.442-6113A>G (n.442-6113A>G) | |
2 | g.233760921A>T | CA351067472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6113A>T (n.856-6113A>T) c.868-6113A>T (n.868-6113A>T) c.862-6113A>T (n.862-6113A>T) c.634A>T (p.Asn212Tyr) c.61-6113A>T (n.61-6113A>T) c.442-6113A>T (n.442-6113A>T) | |
2 | g.233760922A>C | CA351067477 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>C (n.856-6112A>C) c.868-6112A>C (n.868-6112A>C) c.862-6112A>C (n.862-6112A>C) c.635A>C (p.Asn212Thr) c.61-6112A>C (n.61-6112A>C) c.442-6112A>C (n.442-6112A>C) | |
2 | g.233760922A>G | CA351067479 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>G (n.856-6112A>G) c.868-6112A>G (n.868-6112A>G) c.862-6112A>G (n.862-6112A>G) c.635A>G (p.Asn212Ser) c.61-6112A>G (n.61-6112A>G) c.442-6112A>G (n.442-6112A>G) | |
2 | g.233760922A>T | CA351067481 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6112A>T (n.856-6112A>T) c.868-6112A>T (n.868-6112A>T) c.862-6112A>T (n.862-6112A>T) c.635A>T (p.Asn212Ile) c.61-6112A>T (n.61-6112A>T) c.442-6112A>T (n.442-6112A>T) | |
2 | g.233760923C>A | CA351067484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>A (n.856-6111C>A) c.868-6111C>A (n.868-6111C>A) c.862-6111C>A (n.862-6111C>A) c.636C>A (p.Asn212Lys) c.61-6111C>A (n.61-6111C>A) c.442-6111C>A (n.442-6111C>A) | |
2 | g.233760923C= | CA1335889695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C= (n.856-6111C=) c.868-6111C= (n.868-6111C=) c.862-6111C= (n.862-6111C=) c.636C= (p.Asn212=) c.61-6111C= (n.61-6111C=) c.442-6111C= (n.442-6111C=) | |
2 | g.233760923C>G | CA351067485 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>G (n.856-6111C>G) c.868-6111C>G (n.868-6111C>G) c.862-6111C>G (n.862-6111C>G) c.636C>G (p.Asn212Lys) c.61-6111C>G (n.61-6111C>G) c.442-6111C>G (n.442-6111C>G) | gnomAD v4 |
2 | g.233760923C>T | CA67590224 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6111C>T (n.856-6111C>T) c.868-6111C>T (n.868-6111C>T) c.862-6111C>T (n.862-6111C>T) c.636C>T (p.Asn212=) c.61-6111C>T (n.61-6111C>T) c.442-6111C>T (n.442-6111C>T) | dbSNP |
2 | g.233760924A>C | CA351067488 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>C (n.856-6110A>C) c.868-6110A>C (n.868-6110A>C) c.862-6110A>C (n.862-6110A>C) c.637A>C (p.Met213Leu) c.61-6110A>C (n.61-6110A>C) c.442-6110A>C (n.442-6110A>C) | |
2 | g.233760924A>G | CA351067490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>G (n.856-6110A>G) c.868-6110A>G (n.868-6110A>G) c.862-6110A>G (n.862-6110A>G) c.637A>G (p.Met213Val) c.61-6110A>G (n.61-6110A>G) c.442-6110A>G (n.442-6110A>G) | |
2 | g.233760924A>T | CA351067491 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6110A>T (n.856-6110A>T) c.868-6110A>T (n.868-6110A>T) c.862-6110A>T (n.862-6110A>T) c.637A>T (p.Met213Leu) c.61-6110A>T (n.61-6110A>T) c.442-6110A>T (n.442-6110A>T) | |
2 | g.233760925T>A | CA351067493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>A (n.856-6109T>A) c.868-6109T>A (n.868-6109T>A) c.862-6109T>A (n.862-6109T>A) c.638T>A (p.Met213Lys) c.61-6109T>A (n.61-6109T>A) c.442-6109T>A (n.442-6109T>A) | |
2 | g.233760925T>C | CA351067495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>C (n.856-6109T>C) c.868-6109T>C (n.868-6109T>C) c.862-6109T>C (n.862-6109T>C) c.638T>C (p.Met213Thr) c.61-6109T>C (n.61-6109T>C) c.442-6109T>C (n.442-6109T>C) | |
2 | g.233760925T>G | CA351067496 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6109T>G (n.856-6109T>G) c.868-6109T>G (n.868-6109T>G) c.862-6109T>G (n.862-6109T>G) c.638T>G (p.Met213Arg) c.61-6109T>G (n.61-6109T>G) c.442-6109T>G (n.442-6109T>G) | |
2 | g.233760926G>A | CA351067503 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>A (n.856-6108G>A) c.868-6108G>A (n.868-6108G>A) c.862-6108G>A (n.862-6108G>A) c.639G>A (p.Met213Ile) c.61-6108G>A (n.61-6108G>A) c.442-6108G>A (n.442-6108G>A) | |
2 | g.233760926G>C | CA351067497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>C (n.856-6108G>C) c.868-6108G>C (n.868-6108G>C) c.862-6108G>C (n.862-6108G>C) c.639G>C (p.Met213Ile) c.61-6108G>C (n.61-6108G>C) c.442-6108G>C (n.442-6108G>C) | |
2 | g.233760926G>T | CA351067501 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6108G>T (n.856-6108G>T) c.868-6108G>T (n.868-6108G>T) c.862-6108G>T (n.862-6108G>T) c.639G>T (p.Met213Ile) c.61-6108G>T (n.61-6108G>T) c.442-6108G>T (n.442-6108G>T) | |
2 | g.233760927C>A | CA351067505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>A (n.856-6107C>A) c.868-6107C>A (n.868-6107C>A) c.862-6107C>A (n.862-6107C>A) c.640C>A (p.Leu214Ile) c.61-6107C>A (n.61-6107C>A) c.442-6107C>A (n.442-6107C>A) | |
2 | g.233760927C= | CA1335889697 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C= (n.856-6107C=) c.868-6107C= (n.868-6107C=) c.862-6107C= (n.862-6107C=) c.640C= (p.Leu214=) c.61-6107C= (n.61-6107C=) c.442-6107C= (n.442-6107C=) | |
2 | g.233760927C>G | CA351067506 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>G (n.856-6107C>G) c.868-6107C>G (n.868-6107C>G) c.862-6107C>G (n.862-6107C>G) c.640C>G (p.Leu214Val) c.61-6107C>G (n.61-6107C>G) c.442-6107C>G (n.442-6107C>G) | |
2 | g.233760927C>T | CA351067507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6107C>T (n.856-6107C>T) c.868-6107C>T (n.868-6107C>T) c.862-6107C>T (n.862-6107C>T) c.640C>T (p.Leu214Phe) c.61-6107C>T (n.61-6107C>T) c.442-6107C>T (n.442-6107C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760928T>A | CA351067509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>A (n.856-6106T>A) c.868-6106T>A (n.868-6106T>A) c.862-6106T>A (n.862-6106T>A) c.641T>A (p.Leu214His) c.61-6106T>A (n.61-6106T>A) c.442-6106T>A (n.442-6106T>A) | dbSNP |
2 | g.233760928T>C | CA351067510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>C (n.856-6106T>C) c.868-6106T>C (n.868-6106T>C) c.862-6106T>C (n.862-6106T>C) c.641T>C (p.Leu214Pro) c.61-6106T>C (n.61-6106T>C) c.442-6106T>C (n.442-6106T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760928T>G | CA351067512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T>G (n.856-6106T>G) c.868-6106T>G (n.868-6106T>G) c.862-6106T>G (n.862-6106T>G) c.641T>G (p.Leu214Arg) c.61-6106T>G (n.61-6106T>G) c.442-6106T>G (n.442-6106T>G) | |
2 | g.233760928T= | CA1335889700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6106T= (n.856-6106T=) c.868-6106T= (n.868-6106T=) c.862-6106T= (n.862-6106T=) c.641T= (p.Leu214=) c.61-6106T= (n.61-6106T=) c.442-6106T= (n.442-6106T=) | |
2 | g.233760929C>A | CA431960802 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>A (n.856-6105C>A) c.868-6105C>A (n.868-6105C>A) c.862-6105C>A (n.862-6105C>A) c.642C>A (p.Leu214=) c.61-6105C>A (n.61-6105C>A) c.442-6105C>A (n.442-6105C>A) | |
2 | g.233760929C>G | CA431960801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>G (n.856-6105C>G) c.868-6105C>G (n.868-6105C>G) c.862-6105C>G (n.862-6105C>G) c.642C>G (p.Leu214=) c.61-6105C>G (n.61-6105C>G) c.442-6105C>G (n.442-6105C>G) | |
2 | g.233760929C>T | CA431960803 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6105C>T (n.856-6105C>T) c.868-6105C>T (n.868-6105C>T) c.862-6105C>T (n.862-6105C>T) c.642C>T (p.Leu214=) c.61-6105C>T (n.61-6105C>T) c.442-6105C>T (n.442-6105C>T) | |
2 | g.233760930A= | CA1335889702 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A= (n.856-6104A=) c.868-6104A= (n.868-6104A=) c.862-6104A= (n.862-6104A=) c.643A= (p.Ile215=) c.61-6104A= (n.61-6104A=) c.442-6104A= (n.442-6104A=) | |
2 | g.233760930A>C | CA351067514 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>C (n.856-6104A>C) c.868-6104A>C (n.868-6104A>C) c.862-6104A>C (n.862-6104A>C) c.643A>C (p.Ile215Leu) c.61-6104A>C (n.61-6104A>C) c.442-6104A>C (n.442-6104A>C) | |
2 | g.233760930A>G | CA2179861 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>G (n.856-6104A>G) c.868-6104A>G (n.868-6104A>G) c.862-6104A>G (n.862-6104A>G) c.643A>G (p.Ile215Val) c.61-6104A>G (n.61-6104A>G) c.442-6104A>G (n.442-6104A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760930A>T | CA351067517 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6104A>T (n.856-6104A>T) c.868-6104A>T (n.868-6104A>T) c.862-6104A>T (n.862-6104A>T) c.643A>T (p.Ile215Phe) c.61-6104A>T (n.61-6104A>T) c.442-6104A>T (n.442-6104A>T) | gnomAD v4 |
2 | g.233760931T>A | CA351067520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>A (n.856-6103T>A) c.868-6103T>A (n.868-6103T>A) c.862-6103T>A (n.862-6103T>A) c.644T>A (p.Ile215Asn) c.61-6103T>A (n.61-6103T>A) c.442-6103T>A (n.442-6103T>A) | |
2 | g.233760931T>C | CA351067523 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>C (n.856-6103T>C) c.868-6103T>C (n.868-6103T>C) c.862-6103T>C (n.862-6103T>C) c.644T>C (p.Ile215Thr) c.61-6103T>C (n.61-6103T>C) c.442-6103T>C (n.442-6103T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760931T>G | CA351067525 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T>G (n.856-6103T>G) c.868-6103T>G (n.868-6103T>G) c.862-6103T>G (n.862-6103T>G) c.644T>G (p.Ile215Ser) c.61-6103T>G (n.61-6103T>G) c.442-6103T>G (n.442-6103T>G) | |
2 | g.233760931T= | CA1335889707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6103T= (n.856-6103T=) c.868-6103T= (n.868-6103T=) c.862-6103T= (n.862-6103T=) c.644T= (p.Ile215=) c.61-6103T= (n.61-6103T=) c.442-6103T= (n.442-6103T=) | |
2 | g.233760932T>A | CA431960804 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>A (n.856-6102T>A) c.868-6102T>A (n.868-6102T>A) c.862-6102T>A (n.862-6102T>A) c.645T>A (p.Ile215=) c.61-6102T>A (n.61-6102T>A) c.442-6102T>A (n.442-6102T>A) | |
2 | g.233760932T>C | CA431960805 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>C (n.856-6102T>C) c.868-6102T>C (n.868-6102T>C) c.862-6102T>C (n.862-6102T>C) c.645T>C (p.Ile215=) c.61-6102T>C (n.61-6102T>C) c.442-6102T>C (n.442-6102T>C) | gnomAD v4 |
2 | g.233760932T>G | CA351067528 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6102T>G (n.856-6102T>G) c.868-6102T>G (n.868-6102T>G) c.862-6102T>G (n.862-6102T>G) c.645T>G (p.Ile215Met) c.61-6102T>G (n.61-6102T>G) c.442-6102T>G (n.442-6102T>G) | |
2 | g.233760933G>A | CA351067538 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>A (n.856-6101G>A) c.868-6101G>A (n.868-6101G>A) c.862-6101G>A (n.862-6101G>A) c.646G>A (p.Ala216Thr) c.61-6101G>A (n.61-6101G>A) c.442-6101G>A (n.442-6101G>A) | dbSNP gnomAD v4 |
2 | g.233760933G>C | CA351067537 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>C (n.856-6101G>C) c.868-6101G>C (n.868-6101G>C) c.862-6101G>C (n.862-6101G>C) c.646G>C (p.Ala216Pro) c.61-6101G>C (n.61-6101G>C) c.442-6101G>C (n.442-6101G>C) | |
2 | g.233760933G= | CA1335889709 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G= (n.856-6101G=) c.868-6101G= (n.868-6101G=) c.862-6101G= (n.862-6101G=) c.646G= (p.Ala216=) c.61-6101G= (n.61-6101G=) c.442-6101G= (n.442-6101G=) | |
2 | g.233760933G>T | CA351067536 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6101G>T (n.856-6101G>T) c.868-6101G>T (n.868-6101G>T) c.862-6101G>T (n.862-6101G>T) c.646G>T (p.Ala216Ser) c.61-6101G>T (n.61-6101G>T) c.442-6101G>T (n.442-6101G>T) | |
2 | g.233760934C>A | CA67590268 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>A (n.856-6100C>A) c.868-6100C>A (n.868-6100C>A) c.862-6100C>A (n.862-6100C>A) c.647C>A (p.Ala216Asp) c.61-6100C>A (n.61-6100C>A) c.442-6100C>A (n.442-6100C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760934C= | CA1335889711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C= (n.856-6100C=) c.868-6100C= (n.868-6100C=) c.862-6100C= (n.862-6100C=) c.647C= (p.Ala216=) c.61-6100C= (n.61-6100C=) c.442-6100C= (n.442-6100C=) | |
2 | g.233760934C>G | CA351067540 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>G (n.856-6100C>G) c.868-6100C>G (n.868-6100C>G) c.862-6100C>G (n.862-6100C>G) c.647C>G (p.Ala216Gly) c.61-6100C>G (n.61-6100C>G) c.442-6100C>G (n.442-6100C>G) | |
2 | g.233760934C>T | CA351067551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6100C>T (n.856-6100C>T) c.868-6100C>T (n.868-6100C>T) c.862-6100C>T (n.862-6100C>T) c.647C>T (p.Ala216Val) c.61-6100C>T (n.61-6100C>T) c.442-6100C>T (n.442-6100C>T) | dbSNP COSMIC |
2 | g.233760935C>A | CA431960808 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>A (n.856-6099C>A) c.868-6099C>A (n.868-6099C>A) c.862-6099C>A (n.862-6099C>A) c.648C>A (p.Ala216=) c.61-6099C>A (n.61-6099C>A) c.442-6099C>A (n.442-6099C>A) | |
2 | g.233760935C= | CA1335889715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C= (n.856-6099C=) c.868-6099C= (n.868-6099C=) c.862-6099C= (n.862-6099C=) c.648C= (p.Ala216=) c.61-6099C= (n.61-6099C=) c.442-6099C= (n.442-6099C=) | |
2 | g.233760935C>G | CA431960806 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>G (n.856-6099C>G) c.868-6099C>G (n.868-6099C>G) c.862-6099C>G (n.862-6099C>G) c.648C>G (p.Ala216=) c.61-6099C>G (n.61-6099C>G) c.442-6099C>G (n.442-6099C>G) | dbSNP |
2 | g.233760935C>T | CA431960807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6099C>T (n.856-6099C>T) c.868-6099C>T (n.868-6099C>T) c.862-6099C>T (n.862-6099C>T) c.648C>T (p.Ala216=) c.61-6099C>T (n.61-6099C>T) c.442-6099C>T (n.442-6099C>T) | dbSNP COSMIC |
2 | g.233760936T>A | CA351067553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>A (n.856-6098T>A) c.868-6098T>A (n.868-6098T>A) c.862-6098T>A (n.862-6098T>A) c.649T>A (p.Phe217Ile) c.61-6098T>A (n.61-6098T>A) c.442-6098T>A (n.442-6098T>A) | |
2 | g.233760936T>C | CA351067556 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>C (n.856-6098T>C) c.868-6098T>C (n.868-6098T>C) c.862-6098T>C (n.862-6098T>C) c.649T>C (p.Phe217Leu) c.61-6098T>C (n.61-6098T>C) c.442-6098T>C (n.442-6098T>C) | |
2 | g.233760936T>G | CA351067558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6098T>G (n.856-6098T>G) c.868-6098T>G (n.868-6098T>G) c.862-6098T>G (n.862-6098T>G) c.649T>G (p.Phe217Val) c.61-6098T>G (n.61-6098T>G) c.442-6098T>G (n.442-6098T>G) | |
2 | g.233760939dup | CA2577284383 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095dup (n.856-6095dup) c.868-6095dup (n.868-6095dup) c.862-6095dup (n.862-6095dup) c.652dup (p.Ser218PhefsTer?) c.61-6095dup (n.61-6095dup) c.442-6095dup (n.442-6095dup) | gnomAD v4 |
2 | g.233760937T>A | CA351067561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>A (n.856-6097T>A) c.868-6097T>A (n.868-6097T>A) c.862-6097T>A (n.862-6097T>A) c.650T>A (p.Phe217Tyr) c.61-6097T>A (n.61-6097T>A) c.442-6097T>A (n.442-6097T>A) | |
2 | g.233760937T>C | CA351067564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>C (n.856-6097T>C) c.868-6097T>C (n.868-6097T>C) c.862-6097T>C (n.862-6097T>C) c.650T>C (p.Phe217Ser) c.61-6097T>C (n.61-6097T>C) c.442-6097T>C (n.442-6097T>C) | |
2 | g.233760937T>G | CA351067565 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6097T>G (n.856-6097T>G) c.868-6097T>G (n.868-6097T>G) c.862-6097T>G (n.862-6097T>G) c.650T>G (p.Phe217Cys) c.61-6097T>G (n.61-6097T>G) c.442-6097T>G (n.442-6097T>G) | |
2 | g.233760938T>A | CA351067569 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>A (n.856-6096T>A) c.868-6096T>A (n.868-6096T>A) c.862-6096T>A (n.862-6096T>A) c.651T>A (p.Phe217Leu) c.61-6096T>A (n.61-6096T>A) c.442-6096T>A (n.442-6096T>A) | |
2 | g.233760938T>C | CA431960809 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>C (n.856-6096T>C) c.868-6096T>C (n.868-6096T>C) c.862-6096T>C (n.862-6096T>C) c.651T>C (p.Phe217=) c.61-6096T>C (n.61-6096T>C) c.442-6096T>C (n.442-6096T>C) | |
2 | g.233760938T>G | CA351067566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6096T>G (n.856-6096T>G) c.868-6096T>G (n.868-6096T>G) c.862-6096T>G (n.862-6096T>G) c.651T>G (p.Phe217Leu) c.61-6096T>G (n.61-6096T>G) c.442-6096T>G (n.442-6096T>G) | |
2 | g.233760939T>A | CA351067572 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>A (n.856-6095T>A) c.868-6095T>A (n.868-6095T>A) c.862-6095T>A (n.862-6095T>A) c.652T>A (p.Ser218Thr) c.61-6095T>A (n.61-6095T>A) c.442-6095T>A (n.442-6095T>A) | |
2 | g.233760939T>C | CA351067577 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>C (n.856-6095T>C) c.868-6095T>C (n.868-6095T>C) c.862-6095T>C (n.862-6095T>C) c.652T>C (p.Ser218Pro) c.61-6095T>C (n.61-6095T>C) c.442-6095T>C (n.442-6095T>C) | |
2 | g.233760939T>G | CA351067580 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6095T>G (n.856-6095T>G) c.868-6095T>G (n.868-6095T>G) c.862-6095T>G (n.862-6095T>G) c.652T>G (p.Ser218Ala) c.61-6095T>G (n.61-6095T>G) c.442-6095T>G (n.442-6095T>G) | |
2 | g.233760940C>A | CA351067587 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>A (n.856-6094C>A) c.868-6094C>A (n.868-6094C>A) c.862-6094C>A (n.862-6094C>A) c.653C>A (p.Ser218Ter) c.61-6094C>A (n.61-6094C>A) c.442-6094C>A (n.442-6094C>A) | dbSNP |
2 | g.233760940C>G | CA351067590 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>G (n.856-6094C>G) c.868-6094C>G (n.868-6094C>G) c.862-6094C>G (n.862-6094C>G) c.653C>G (p.Ser218Ter) c.61-6094C>G (n.61-6094C>G) c.442-6094C>G (n.442-6094C>G) | |
2 | g.233760940C>T | CA351067593 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6094C>T (n.856-6094C>T) c.868-6094C>T (n.868-6094C>T) c.862-6094C>T (n.862-6094C>T) c.653C>T (p.Ser218Leu) c.61-6094C>T (n.61-6094C>T) c.442-6094C>T (n.442-6094C>T) | COSMIC COSMIC |
2 | g.233760941A>C | CA431960810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>C (n.856-6093A>C) c.868-6093A>C (n.868-6093A>C) c.862-6093A>C (n.862-6093A>C) c.654A>C (p.Ser218=) c.61-6093A>C (n.61-6093A>C) c.442-6093A>C (n.442-6093A>C) | |
2 | g.233760941A>G | CA431960812 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>G (n.856-6093A>G) c.868-6093A>G (n.868-6093A>G) c.862-6093A>G (n.862-6093A>G) c.654A>G (p.Ser218=) c.61-6093A>G (n.61-6093A>G) c.442-6093A>G (n.442-6093A>G) | |
2 | g.233760941A>T | CA431960811 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6093A>T (n.856-6093A>T) c.868-6093A>T (n.868-6093A>T) c.862-6093A>T (n.862-6093A>T) c.654A>T (p.Ser218=) c.61-6093A>T (n.61-6093A>T) c.442-6093A>T (n.442-6093A>T) | |
2 | g.233760942C>A | CA351067600 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>A (n.856-6092C>A) c.868-6092C>A (n.868-6092C>A) c.862-6092C>A (n.862-6092C>A) c.655C>A (p.Gln219Lys) c.61-6092C>A (n.61-6092C>A) c.442-6092C>A (n.442-6092C>A) | |
2 | g.233760942C= | CA1335889717 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C= (n.856-6092C=) c.868-6092C= (n.868-6092C=) c.862-6092C= (n.862-6092C=) c.655C= (p.Gln219=) c.61-6092C= (n.61-6092C=) c.442-6092C= (n.442-6092C=) | |
2 | g.233760942C>G | CA351067604 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>G (n.856-6092C>G) c.868-6092C>G (n.868-6092C>G) c.862-6092C>G (n.862-6092C>G) c.655C>G (p.Gln219Glu) c.61-6092C>G (n.61-6092C>G) c.442-6092C>G (n.442-6092C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233760942C>T | CA351067601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6092C>T (n.856-6092C>T) c.868-6092C>T (n.868-6092C>T) c.862-6092C>T (n.862-6092C>T) c.655C>T (p.Gln219Ter) c.61-6092C>T (n.61-6092C>T) c.442-6092C>T (n.442-6092C>T) | gnomAD v4 |
2 | g.233760943A= | CA1335889721 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A= (n.856-6091A=) c.868-6091A= (n.868-6091A=) c.862-6091A= (n.862-6091A=) c.656A= (p.Gln219=) c.61-6091A= (n.61-6091A=) c.442-6091A= (n.442-6091A=) | |
2 | g.233760943A>C | CA351067606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>C (n.856-6091A>C) c.868-6091A>C (n.868-6091A>C) c.862-6091A>C (n.862-6091A>C) c.656A>C (p.Gln219Pro) c.61-6091A>C (n.61-6091A>C) c.442-6091A>C (n.442-6091A>C) | |
2 | g.233760943A>G | CA351067608 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>G (n.856-6091A>G) c.868-6091A>G (n.868-6091A>G) c.862-6091A>G (n.862-6091A>G) c.656A>G (p.Gln219Arg) c.61-6091A>G (n.61-6091A>G) c.442-6091A>G (n.442-6091A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233760943A>T | CA351067610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6091A>T (n.856-6091A>T) c.868-6091A>T (n.868-6091A>T) c.862-6091A>T (n.862-6091A>T) c.656A>T (p.Gln219Leu) c.61-6091A>T (n.61-6091A>T) c.442-6091A>T (n.442-6091A>T) | |
2 | g.233760944G>A | CA431960813 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>A (n.856-6090G>A) c.868-6090G>A (n.868-6090G>A) c.862-6090G>A (n.862-6090G>A) c.657G>A (p.Gln219=) c.61-6090G>A (n.61-6090G>A) c.442-6090G>A (n.442-6090G>A) | |
2 | g.233760944G>C | CA351067614 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>C (n.856-6090G>C) c.868-6090G>C (n.868-6090G>C) c.862-6090G>C (n.862-6090G>C) c.657G>C (p.Gln219His) c.61-6090G>C (n.61-6090G>C) c.442-6090G>C (n.442-6090G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233760944G= | CA1335889726 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G= (n.856-6090G=) c.868-6090G= (n.868-6090G=) c.862-6090G= (n.862-6090G=) c.657G= (p.Gln219=) c.61-6090G= (n.61-6090G=) c.442-6090G= (n.442-6090G=) | |
2 | g.233760944G>T | CA351067616 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6090G>T (n.856-6090G>T) c.868-6090G>T (n.868-6090G>T) c.862-6090G>T (n.862-6090G>T) c.657G>T (p.Gln219His) c.61-6090G>T (n.61-6090G>T) c.442-6090G>T (n.442-6090G>T) | |
2 | g.233760945A>C | CA351067619 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>C (n.856-6089A>C) c.868-6089A>C (n.868-6089A>C) c.862-6089A>C (n.862-6089A>C) c.658A>C (p.Asn220His) c.61-6089A>C (n.61-6089A>C) c.442-6089A>C (n.442-6089A>C) | |
2 | g.233760945A>G | CA351067624 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>G (n.856-6089A>G) c.868-6089A>G (n.868-6089A>G) c.862-6089A>G (n.862-6089A>G) c.658A>G (p.Asn220Asp) c.61-6089A>G (n.61-6089A>G) c.442-6089A>G (n.442-6089A>G) | |
2 | g.233760945A>T | CA351067627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6089A>T (n.856-6089A>T) c.868-6089A>T (n.868-6089A>T) c.862-6089A>T (n.862-6089A>T) c.658A>T (p.Asn220Tyr) c.61-6089A>T (n.61-6089A>T) c.442-6089A>T (n.442-6089A>T) | |
2 | g.233760946A>C | CA351067629 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>C (n.856-6088A>C) c.868-6088A>C (n.868-6088A>C) c.862-6088A>C (n.862-6088A>C) c.659A>C (p.Asn220Thr) c.61-6088A>C (n.61-6088A>C) c.442-6088A>C (n.442-6088A>C) | |
2 | g.233760946A>G | CA351067632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>G (n.856-6088A>G) c.868-6088A>G (n.868-6088A>G) c.862-6088A>G (n.862-6088A>G) c.659A>G (p.Asn220Ser) c.61-6088A>G (n.61-6088A>G) c.442-6088A>G (n.442-6088A>G) | |
2 | g.233760946A>T | CA351067636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6088A>T (n.856-6088A>T) c.868-6088A>T (n.868-6088A>T) c.862-6088A>T (n.862-6088A>T) c.659A>T (p.Asn220Ile) c.61-6088A>T (n.61-6088A>T) c.442-6088A>T (n.442-6088A>T) |