Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767072A>CCA431855524UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>C (p.Gly298=)
c.906A>C (p.Gly302=)
c.900A>C (p.Gly300=)
c.903A>C (p.Gly301=)
c.99A>C (p.Gly33=)
c.480A>C (n.480A>C)
2g.233767072A>GCA431855522UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>G (p.Gly298=)
c.906A>G (p.Gly302=)
c.900A>G (p.Gly300=)
c.903A>G (p.Gly301=)
c.99A>G (p.Gly33=)
c.480A>G (n.480A>G)
2g.233767072A>TCA431855520UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.894A>T (p.Gly298=)
c.906A>T (p.Gly302=)
c.900A>T (p.Gly300=)
c.903A>T (p.Gly301=)
c.99A>T (p.Gly33=)
c.480A>T (n.480A>T)
2g.233767073A=CA1335894712UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A= (p.Ile299=)
c.907A= (p.Ile303=)
c.901A= (p.Ile301=)
c.904A= (p.Ile302=)
c.100A= (p.Ile34=)
c.481A= (n.481A=)
2g.233767073A>CCA351071817UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>C (p.Ile299Leu)
c.907A>C (p.Ile303Leu)
c.901A>C (p.Ile301Leu)
c.904A>C (p.Ile302Leu)
c.100A>C (p.Ile34Leu)
c.481A>C (n.481A>C)
2g.233767073A>GCA351071819UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>G (p.Ile299Val)
c.907A>G (p.Ile303Val)
c.901A>G (p.Ile301Val)
c.904A>G (p.Ile302Val)
c.100A>G (p.Ile34Val)
c.481A>G (n.481A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.233767073A>TCA351071825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.895A>T (p.Ile299Phe)
c.907A>T (p.Ile303Phe)
c.901A>T (p.Ile301Phe)
c.904A>T (p.Ile302Phe)
c.100A>T (p.Ile34Phe)
c.481A>T (n.481A>T)
2g.233767074T>ACA351071828UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>A (p.Ile299Asn)
c.908T>A (p.Ile303Asn)
c.902T>A (p.Ile301Asn)
c.905T>A (p.Ile302Asn)
c.101T>A (p.Ile34Asn)
c.482T>A (n.482T>A)
2g.233767074T>CCA2179924UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>C (p.Ile299Thr)
c.908T>C (p.Ile303Thr)
c.902T>C (p.Ile301Thr)
c.905T>C (p.Ile302Thr)
c.101T>C (p.Ile34Thr)
c.482T>C (n.482T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767074T>GCA351071835UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T>G (p.Ile299Ser)
c.908T>G (p.Ile303Ser)
c.902T>G (p.Ile301Ser)
c.905T>G (p.Ile302Ser)
c.101T>G (p.Ile34Ser)
c.482T>G (n.482T>G)
2g.233767074T=CA1335894713UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.896T= (p.Ile299=)
c.908T= (p.Ile303=)
c.902T= (p.Ile301=)
c.905T= (p.Ile302=)
c.101T= (p.Ile34=)
c.482T= (n.482T=)
2g.233767075T>ACA431855543UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>A (p.Ile299=)
c.909T>A (p.Ile303=)
c.903T>A (p.Ile301=)
c.906T>A (p.Ile302=)
c.102T>A (p.Ile34=)
c.483T>A (n.483T>A)
2g.233767075T>CCA431855542UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>C (p.Ile299=)
c.909T>C (p.Ile303=)
c.903T>C (p.Ile301=)
c.906T>C (p.Ile302=)
c.102T>C (p.Ile34=)
c.483T>C (n.483T>C)
2g.233767075T>GCA351071839UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.897T>G (p.Ile299Met)
c.909T>G (p.Ile303Met)
c.903T>G (p.Ile301Met)
c.906T>G (p.Ile302Met)
c.102T>G (p.Ile34Met)
c.483T>G (n.483T>G)
2g.233767076G>ACA2179925UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>A (p.Val300Met)
c.910G>A (p.Val304Met)
c.904G>A (p.Val302Met)
c.907G>A (p.Val303Met)
c.103G>A (p.Val35Met)
c.484G>A (n.484G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233767076G>CCA351071844UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>C (p.Val300Leu)
c.910G>C (p.Val304Leu)
c.904G>C (p.Val302Leu)
c.907G>C (p.Val303Leu)
c.103G>C (p.Val35Leu)
c.484G>C (n.484G>C)
2g.233767076G=CA1335894714UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G= (p.Val300=)
c.910G= (p.Val304=)
c.904G= (p.Val302=)
c.907G= (p.Val303=)
c.103G= (p.Val35=)
c.484G= (n.484G=)
2g.233767076G>TCA351071846UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.898G>T (p.Val300Leu)
c.910G>T (p.Val304Leu)
c.904G>T (p.Val302Leu)
c.907G>T (p.Val303Leu)
c.103G>T (p.Val35Leu)
c.484G>T (n.484G>T)
2g.233767077T>ACA351071850UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>A (p.Val300Glu)
c.911T>A (p.Val304Glu)
c.905T>A (p.Val302Glu)
c.908T>A (p.Val303Glu)
c.104T>A (p.Val35Glu)
c.485T>A (n.485T>A)
2g.233767077T>CCA351071848UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>C (p.Val300Ala)
c.911T>C (p.Val304Ala)
c.905T>C (p.Val302Ala)
c.908T>C (p.Val303Ala)
c.104T>C (p.Val35Ala)
c.485T>C (n.485T>C)
2g.233767077T>GCA351071849UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.899T>G (p.Val300Gly)
c.911T>G (p.Val304Gly)
c.905T>G (p.Val302Gly)
c.908T>G (p.Val303Gly)
c.104T>G (p.Val35Gly)
c.485T>G (n.485T>G)
2g.233767078G>ACA431855565UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>A (p.Val300=)
c.912G>A (p.Val304=)
c.906G>A (p.Val302=)
c.909G>A (p.Val303=)
c.105G>A (p.Val35=)
c.486G>A (n.486G>A)
2g.233767078G>CCA431855588UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>C (p.Val300=)
c.912G>C (p.Val304=)
c.906G>C (p.Val302=)
c.909G>C (p.Val303=)
c.105G>C (p.Val35=)
c.486G>C (n.486G>C)
2g.233767078G>TCA431855584UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.900G>T (p.Val300=)
c.912G>T (p.Val304=)
c.906G>T (p.Val302=)
c.909G>T (p.Val303=)
c.105G>T (p.Val35=)
c.486G>T (n.486G>T)
2g.233767079G>ACA351071851UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>A (p.Val301Ile)
c.913G>A (p.Val305Ile)
c.907G>A (p.Val303Ile)
c.910G>A (p.Val304Ile)
c.106G>A (p.Val36Ile)
c.487G>A (n.487G>A)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767079G>CCA351071853UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>C (p.Val301Leu)
c.913G>C (p.Val305Leu)
c.907G>C (p.Val303Leu)
c.910G>C (p.Val304Leu)
c.106G>C (p.Val36Leu)
c.487G>C (n.487G>C)
 dbSNP
2g.233767079G=CA1335894715UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G= (p.Val301=)
c.913G= (p.Val305=)
c.907G= (p.Val303=)
c.910G= (p.Val304=)
c.106G= (p.Val36=)
c.487G= (n.487G=)
2g.233767079G>TCA351071856UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.901G>T (p.Val301Phe)
c.913G>T (p.Val305Phe)
c.907G>T (p.Val303Phe)
c.910G>T (p.Val304Phe)
c.106G>T (p.Val36Phe)
c.487G>T (n.487G>T)
2g.233767080T>ACA351071860UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>A (p.Val301Asp)
c.914T>A (p.Val305Asp)
c.908T>A (p.Val303Asp)
c.911T>A (p.Val304Asp)
c.107T>A (p.Val36Asp)
c.488T>A (n.488T>A)
2g.233767080T>CCA2179926UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>C (p.Val301Ala)
c.914T>C (p.Val305Ala)
c.908T>C (p.Val303Ala)
c.911T>C (p.Val304Ala)
c.107T>C (p.Val36Ala)
c.488T>C (n.488T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767080T>GCA351071863UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T>G (p.Val301Gly)
c.914T>G (p.Val305Gly)
c.908T>G (p.Val303Gly)
c.911T>G (p.Val304Gly)
c.107T>G (p.Val36Gly)
c.488T>G (n.488T>G)
2g.233767080T=CA1335894716UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.902T= (p.Val301=)
c.914T= (p.Val305=)
c.908T= (p.Val303=)
c.911T= (p.Val304=)
c.107T= (p.Val36=)
c.488T= (n.488T=)
2g.233767083delCA2577284405UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905del (p.Phe302SerfsTer?)
c.917del (p.Phe306SerfsTer?)
c.911del (p.Phe304SerfsTer?)
c.914del (p.Phe305SerfsTer?)
c.110del (p.Phe37SerfsTer?)
c.491del (n.491del)
2g.233767081T>ACA431855617UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>A (p.Val301=)
c.915T>A (p.Val305=)
c.909T>A (p.Val303=)
c.912T>A (p.Val304=)
c.108T>A (p.Val36=)
c.489T>A (n.489T>A)
2g.233767081T>CCA431855618UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>C (p.Val301=)
c.915T>C (p.Val305=)
c.909T>C (p.Val303=)
c.912T>C (p.Val304=)
c.108T>C (p.Val36=)
c.489T>C (n.489T>C)
2g.233767081T>GCA431855615UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.903T>G (p.Val301=)
c.915T>G (p.Val305=)
c.909T>G (p.Val303=)
c.912T>G (p.Val304=)
c.108T>G (p.Val36=)
c.489T>G (n.489T>G)
2g.233767084_233767089delCA645531509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906_911del (p.Phe302_Ser303del)
c.918_923del (p.Phe306_Ser307del)
c.912_917del (p.Phe304_Ser305del)
c.915_920del (p.Phe305_Ser306del)
c.111_116del (p.Phe37_Ser38del)
c.492_497del (n.492_497del)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767082T>ACA351071867UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>A (p.Phe302Ile)
c.916T>A (p.Phe306Ile)
c.910T>A (p.Phe304Ile)
c.913T>A (p.Phe305Ile)
c.109T>A (p.Phe37Ile)
c.490T>A (n.490T>A)
2g.233767082T>CCA351071865UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>C (p.Phe302Leu)
c.916T>C (p.Phe306Leu)
c.910T>C (p.Phe304Leu)
c.913T>C (p.Phe305Leu)
c.109T>C (p.Phe37Leu)
c.490T>C (n.490T>C)
2g.233767082T>GCA351071866UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.904T>G (p.Phe302Val)
c.916T>G (p.Phe306Val)
c.910T>G (p.Phe304Val)
c.913T>G (p.Phe305Val)
c.109T>G (p.Phe37Val)
c.490T>G (n.490T>G)
2g.233767083T>ACA351071869UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>A (p.Phe302Tyr)
c.917T>A (p.Phe306Tyr)
c.911T>A (p.Phe304Tyr)
c.914T>A (p.Phe305Tyr)
c.110T>A (p.Phe37Tyr)
c.491T>A (n.491T>A)
2g.233767083T>CCA351071872UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>C (p.Phe302Ser)
c.917T>C (p.Phe306Ser)
c.911T>C (p.Phe304Ser)
c.914T>C (p.Phe305Ser)
c.110T>C (p.Phe37Ser)
c.491T>C (n.491T>C)
2g.233767083T>GCA351071874UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.905T>G (p.Phe302Cys)
c.917T>G (p.Phe306Cys)
c.911T>G (p.Phe304Cys)
c.914T>G (p.Phe305Cys)
c.110T>G (p.Phe37Cys)
c.491T>G (n.491T>G)
2g.233767086_233767087delCA2663716590UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.908_909del (p.Ser303PhefsTer18)
c.920_921del (p.Ser307PhefsTer18)
c.914_915del (p.Ser305PhefsTer18)
c.917_918del (p.Ser306PhefsTer18)
c.113_114del (p.Ser38PhefsTer18)
c.494_495del (n.494_495del)
 gnomAD v4
2g.233767084C>ACA351071877UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>A (p.Phe302Leu)
c.918C>A (p.Phe306Leu)
c.912C>A (p.Phe304Leu)
c.915C>A (p.Phe305Leu)
c.111C>A (p.Phe37Leu)
c.492C>A (n.492C>A)
2g.233767084C>GCA351071880UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>G (p.Phe302Leu)
c.918C>G (p.Phe306Leu)
c.912C>G (p.Phe304Leu)
c.915C>G (p.Phe305Leu)
c.111C>G (p.Phe37Leu)
c.492C>G (n.492C>G)
 gnomAD v4
2g.233767084C>TCA431855653UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.906C>T (p.Phe302=)
c.918C>T (p.Phe306=)
c.912C>T (p.Phe304=)
c.915C>T (p.Phe305=)
c.111C>T (p.Phe37=)
c.492C>T (n.492C>T)
2g.233767085T>ACA351071883UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>A (p.Ser303Thr)
c.919T>A (p.Ser307Thr)
c.913T>A (p.Ser305Thr)
c.916T>A (p.Ser306Thr)
c.112T>A (p.Ser38Thr)
c.493T>A (n.493T>A)
2g.233767085T>CCA351071886UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>C (p.Ser303Pro)
c.919T>C (p.Ser307Pro)
c.913T>C (p.Ser305Pro)
c.916T>C (p.Ser306Pro)
c.112T>C (p.Ser38Pro)
c.493T>C (n.493T>C)
2g.233767085T>GCA351071884UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.907T>G (p.Ser303Ala)
c.919T>G (p.Ser307Ala)
c.913T>G (p.Ser305Ala)
c.916T>G (p.Ser306Ala)
c.112T>G (p.Ser38Ala)
c.493T>G (n.493T>G)

Number of alleles fetched