Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233760724A>CCA351066677UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>C (n.856-6310A>C)
c.868-6310A>C (n.868-6310A>C)
c.862-6310A>C (n.862-6310A>C)
c.437A>C (p.Asp146Ala)
c.61-6310A>C (n.61-6310A>C)
c.442-6310A>C (n.442-6310A>C)
2g.233760724A>GCA351066678UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>G (n.856-6310A>G)
c.868-6310A>G (n.868-6310A>G)
c.862-6310A>G (n.862-6310A>G)
c.437A>G (p.Asp146Gly)
c.61-6310A>G (n.61-6310A>G)
c.442-6310A>G (n.442-6310A>G)
2g.233760724A>TCA351066679UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6310A>T (n.856-6310A>T)
c.868-6310A>T (n.868-6310A>T)
c.862-6310A>T (n.862-6310A>T)
c.437A>T (p.Asp146Val)
c.61-6310A>T (n.61-6310A>T)
c.442-6310A>T (n.442-6310A>T)
2g.233760725T>ACA351066680UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>A (n.856-6309T>A)
c.868-6309T>A (n.868-6309T>A)
c.862-6309T>A (n.862-6309T>A)
c.438T>A (p.Asp146Glu)
c.61-6309T>A (n.61-6309T>A)
c.442-6309T>A (n.442-6309T>A)
2g.233760725T>CCA431960427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>C (n.856-6309T>C)
c.868-6309T>C (n.868-6309T>C)
c.862-6309T>C (n.862-6309T>C)
c.438T>C (p.Asp146=)
c.61-6309T>C (n.61-6309T>C)
c.442-6309T>C (n.442-6309T>C)
2g.233760725T>GCA351066681UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6309T>G (n.856-6309T>G)
c.868-6309T>G (n.868-6309T>G)
c.862-6309T>G (n.862-6309T>G)
c.438T>G (p.Asp146Glu)
c.61-6309T>G (n.61-6309T>G)
c.442-6309T>G (n.442-6309T>G)
2g.233760726G>ACA351066682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>A (n.856-6308G>A)
c.868-6308G>A (n.868-6308G>A)
c.862-6308G>A (n.862-6308G>A)
c.439G>A (p.Val147Ile)
c.61-6308G>A (n.61-6308G>A)
c.442-6308G>A (n.442-6308G>A)
2g.233760726G>CCA351066683UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>C (n.856-6308G>C)
c.868-6308G>C (n.868-6308G>C)
c.862-6308G>C (n.862-6308G>C)
c.439G>C (p.Val147Leu)
c.61-6308G>C (n.61-6308G>C)
c.442-6308G>C (n.442-6308G>C)
2g.233760726G>TCA351066684UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6308G>T (n.856-6308G>T)
c.868-6308G>T (n.868-6308G>T)
c.862-6308G>T (n.862-6308G>T)
c.439G>T (p.Val147Phe)
c.61-6308G>T (n.61-6308G>T)
c.442-6308G>T (n.442-6308G>T)
2g.233760727T>ACA351066687UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>A (n.856-6307T>A)
c.868-6307T>A (n.868-6307T>A)
c.862-6307T>A (n.862-6307T>A)
c.440T>A (p.Val147Asp)
c.61-6307T>A (n.61-6307T>A)
c.442-6307T>A (n.442-6307T>A)
2g.233760727T>CCA351066685UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>C (n.856-6307T>C)
c.868-6307T>C (n.868-6307T>C)
c.862-6307T>C (n.862-6307T>C)
c.440T>C (p.Val147Ala)
c.61-6307T>C (n.61-6307T>C)
c.442-6307T>C (n.442-6307T>C)
2g.233760727T>GCA351066686UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6307T>G (n.856-6307T>G)
c.868-6307T>G (n.868-6307T>G)
c.862-6307T>G (n.862-6307T>G)
c.440T>G (p.Val147Gly)
c.61-6307T>G (n.61-6307T>G)
c.442-6307T>G (n.442-6307T>G)
gnomAD v4
2g.233760728C>ACA431960429UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>A (n.856-6306C>A)
c.868-6306C>A (n.868-6306C>A)
c.862-6306C>A (n.862-6306C>A)
c.441C>A (p.Val147=)
c.61-6306C>A (n.61-6306C>A)
c.442-6306C>A (n.442-6306C>A)
COSMIC
2g.233760728C=CA1335889371UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C= (n.856-6306C=)
c.868-6306C= (n.868-6306C=)
c.862-6306C= (n.862-6306C=)
c.441C= (p.Val147=)
c.61-6306C= (n.61-6306C=)
c.442-6306C= (n.442-6306C=)
2g.233760728C>GCA431960428UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>G (n.856-6306C>G)
c.868-6306C>G (n.868-6306C>G)
c.862-6306C>G (n.862-6306C>G)
c.441C>G (p.Val147=)
c.61-6306C>G (n.61-6306C>G)
c.442-6306C>G (n.442-6306C>G)
2g.233760728C>TCA431960430UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6306C>T (n.856-6306C>T)
c.868-6306C>T (n.868-6306C>T)
c.862-6306C>T (n.862-6306C>T)
c.441C>T (p.Val147=)
c.61-6306C>T (n.61-6306C>T)
c.442-6306C>T (n.442-6306C>T)
dbSNP gnomAD v3 gnomAD v4
2g.233760729A=CA1335889373UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A= (n.856-6305A=)
c.868-6305A= (n.868-6305A=)
c.862-6305A= (n.862-6305A=)
c.442A= (p.Met148=)
c.61-6305A= (n.61-6305A=)
c.442-6305A= (n.442-6305A=)
2g.233760729A>CCA351066688UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>C (n.856-6305A>C)
c.868-6305A>C (n.868-6305A>C)
c.862-6305A>C (n.862-6305A>C)
c.442A>C (p.Met148Leu)
c.61-6305A>C (n.61-6305A>C)
c.442-6305A>C (n.442-6305A>C)
2g.233760729A>GCA351066689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>G (n.856-6305A>G)
c.868-6305A>G (n.868-6305A>G)
c.862-6305A>G (n.862-6305A>G)
c.442A>G (p.Met148Val)
c.61-6305A>G (n.61-6305A>G)
c.442-6305A>G (n.442-6305A>G)
dbSNP gnomAD v2 gnomAD v4
2g.233760729A>TCA351066690UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6305A>T (n.856-6305A>T)
c.868-6305A>T (n.868-6305A>T)
c.862-6305A>T (n.862-6305A>T)
c.442A>T (p.Met148Leu)
c.61-6305A>T (n.61-6305A>T)
c.442-6305A>T (n.442-6305A>T)
2g.233760730T>ACA351066691UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>A (n.856-6304T>A)
c.868-6304T>A (n.868-6304T>A)
c.862-6304T>A (n.862-6304T>A)
c.443T>A (p.Met148Lys)
c.61-6304T>A (n.61-6304T>A)
c.442-6304T>A (n.442-6304T>A)
2g.233760730T>CCA351066692UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>C (n.856-6304T>C)
c.868-6304T>C (n.868-6304T>C)
c.862-6304T>C (n.862-6304T>C)
c.443T>C (p.Met148Thr)
c.61-6304T>C (n.61-6304T>C)
c.442-6304T>C (n.442-6304T>C)
2g.233760730T>GCA351066693UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6304T>G (n.856-6304T>G)
c.868-6304T>G (n.868-6304T>G)
c.862-6304T>G (n.862-6304T>G)
c.443T>G (p.Met148Arg)
c.61-6304T>G (n.61-6304T>G)
c.442-6304T>G (n.442-6304T>G)
2g.233760731G>ACA351066694UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>A (n.856-6303G>A)
c.868-6303G>A (n.868-6303G>A)
c.862-6303G>A (n.862-6303G>A)
c.444G>A (p.Met148Ile)
c.61-6303G>A (n.61-6303G>A)
c.442-6303G>A (n.442-6303G>A)
2g.233760731G>CCA351066695UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>C (n.856-6303G>C)
c.868-6303G>C (n.868-6303G>C)
c.862-6303G>C (n.862-6303G>C)
c.444G>C (p.Met148Ile)
c.61-6303G>C (n.61-6303G>C)
c.442-6303G>C (n.442-6303G>C)
2g.233760731G>TCA351066696UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6303G>T (n.856-6303G>T)
c.868-6303G>T (n.868-6303G>T)
c.862-6303G>T (n.862-6303G>T)
c.444G>T (p.Met148Ile)
c.61-6303G>T (n.61-6303G>T)
c.442-6303G>T (n.442-6303G>T)
2g.233760732C>ACA351066697UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>A (n.856-6302C>A)
c.868-6302C>A (n.868-6302C>A)
c.862-6302C>A (n.862-6302C>A)
c.445C>A (p.Leu149Met)
c.61-6302C>A (n.61-6302C>A)
c.442-6302C>A (n.442-6302C>A)
2g.233760732C>GCA351066698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>G (n.856-6302C>G)
c.868-6302C>G (n.868-6302C>G)
c.862-6302C>G (n.862-6302C>G)
c.445C>G (p.Leu149Val)
c.61-6302C>G (n.61-6302C>G)
c.442-6302C>G (n.442-6302C>G)
2g.233760732C>TCA431960431UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6302C>T (n.856-6302C>T)
c.868-6302C>T (n.868-6302C>T)
c.862-6302C>T (n.862-6302C>T)
c.445C>T (p.Leu149=)
c.61-6302C>T (n.61-6302C>T)
c.442-6302C>T (n.442-6302C>T)
2g.233760733T>ACA351066700UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6301T>A (n.856-6301T>A)
c.868-6301T>A (n.868-6301T>A)
c.862-6301T>A (n.862-6301T>A)
c.446T>A (p.Leu149Gln)
c.61-6301T>A (n.61-6301T>A)
c.442-6301T>A (n.442-6301T>A)
2g.233760733T>CCA351066701UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6301T>C (n.856-6301T>C)
c.868-6301T>C (n.868-6301T>C)
c.862-6301T>C (n.862-6301T>C)
c.446T>C (p.Leu149Pro)
c.61-6301T>C (n.61-6301T>C)
c.442-6301T>C (n.442-6301T>C)
2g.233760733T>GCA351066699UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6301T>G (n.856-6301T>G)
c.868-6301T>G (n.868-6301T>G)
c.862-6301T>G (n.862-6301T>G)
c.446T>G (p.Leu149Arg)
c.61-6301T>G (n.61-6301T>G)
c.442-6301T>G (n.442-6301T>G)
gnomAD v4
2g.233760733_233760741delinsTGACGGACCCA1335889375UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6301_856-6293delinsTGACGGACC (n.856-6301_856-6293delinsTGACGGACC)
c.868-6301_868-6293delinsTGACGGACC (n.868-6301_868-6293delinsTGACGGACC)
c.862-6301_862-6293delinsTGACGGACC (n.862-6301_862-6293delinsTGACGGACC)
c.446_454delinsTGACGGACC (p.Leu149=)
c.61-6301_61-6293delinsTGACGGACC (n.61-6301_61-6293delinsTGACGGACC)
c.442-6301_442-6293delinsTGACGGACC (n.442-6301_442-6293delinsTGACGGACC)
2g.233760734G>ACA431960432UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6300G>A (n.856-6300G>A)
c.868-6300G>A (n.868-6300G>A)
c.862-6300G>A (n.862-6300G>A)
c.447G>A (p.Leu149=)
c.61-6300G>A (n.61-6300G>A)
c.442-6300G>A (n.442-6300G>A)
2g.233760734G>CCA431960434UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6300G>C (n.856-6300G>C)
c.868-6300G>C (n.868-6300G>C)
c.862-6300G>C (n.862-6300G>C)
c.447G>C (p.Leu149=)
c.61-6300G>C (n.61-6300G>C)
c.442-6300G>C (n.442-6300G>C)
dbSNP gnomAD v3 gnomAD v4
2g.233760734G=CA1335889376UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6300G= (n.856-6300G=)
c.868-6300G= (n.868-6300G=)
c.862-6300G= (n.862-6300G=)
c.447G= (p.Leu149=)
c.61-6300G= (n.61-6300G=)
c.442-6300G= (n.442-6300G=)
2g.233760734G>TCA431960433UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6300G>T (n.856-6300G>T)
c.868-6300G>T (n.868-6300G>T)
c.862-6300G>T (n.862-6300G>T)
c.447G>T (p.Leu149=)
c.61-6300G>T (n.61-6300G>T)
c.442-6300G>T (n.442-6300G>T)
2g.233760734_233760741delCA1335889377UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6300_856-6293del (n.856-6300_856-6293del)
c.868-6300_868-6293del (n.868-6300_868-6293del)
c.862-6300_862-6293del (n.862-6300_862-6293del)
c.447_454del (p.Thr150PhefsTer?)
c.61-6300_61-6293del (n.61-6300_61-6293del)
c.442-6300_442-6293del (n.442-6300_442-6293del)
dbSNP
2g.233760735A>CCA351066702UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6299A>C (n.856-6299A>C)
c.868-6299A>C (n.868-6299A>C)
c.862-6299A>C (n.862-6299A>C)
c.448A>C (p.Thr150Pro)
c.61-6299A>C (n.61-6299A>C)
c.442-6299A>C (n.442-6299A>C)
2g.233760735A>GCA351066703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6299A>G (n.856-6299A>G)
c.868-6299A>G (n.868-6299A>G)
c.862-6299A>G (n.862-6299A>G)
c.448A>G (p.Thr150Ala)
c.61-6299A>G (n.61-6299A>G)
c.442-6299A>G (n.442-6299A>G)
2g.233760735A>TCA351066704UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6299A>T (n.856-6299A>T)
c.868-6299A>T (n.868-6299A>T)
c.862-6299A>T (n.862-6299A>T)
c.448A>T (p.Thr150Ser)
c.61-6299A>T (n.61-6299A>T)
c.442-6299A>T (n.442-6299A>T)
2g.233760736C>ACA351066705UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6298C>A (n.856-6298C>A)
c.868-6298C>A (n.868-6298C>A)
c.862-6298C>A (n.862-6298C>A)
c.449C>A (p.Thr150Lys)
c.61-6298C>A (n.61-6298C>A)
c.442-6298C>A (n.442-6298C>A)
2g.233760736C=CA1335889380UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6298C= (n.856-6298C=)
c.868-6298C= (n.868-6298C=)
c.862-6298C= (n.862-6298C=)
c.449C= (p.Thr150=)
c.61-6298C= (n.61-6298C=)
c.442-6298C= (n.442-6298C=)
2g.233760736C>GCA2179824UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6298C>G (n.856-6298C>G)
c.868-6298C>G (n.868-6298C>G)
c.862-6298C>G (n.862-6298C>G)
c.449C>G (p.Thr150Arg)
c.61-6298C>G (n.61-6298C>G)
c.442-6298C>G (n.442-6298C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.233760736C>TCA2179825UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6298C>T (n.856-6298C>T)
c.868-6298C>T (n.868-6298C>T)
c.862-6298C>T (n.862-6298C>T)
c.449C>T (p.Thr150Met)
c.61-6298C>T (n.61-6298C>T)
c.442-6298C>T (n.442-6298C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.233760737G>ACA2179826UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6297G>A (n.856-6297G>A)
c.868-6297G>A (n.868-6297G>A)
c.862-6297G>A (n.862-6297G>A)
c.450G>A (p.Thr150=)
c.61-6297G>A (n.61-6297G>A)
c.442-6297G>A (n.442-6297G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233760737G>CCA431960436UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6297G>C (n.856-6297G>C)
c.868-6297G>C (n.868-6297G>C)
c.862-6297G>C (n.862-6297G>C)
c.450G>C (p.Thr150=)
c.61-6297G>C (n.61-6297G>C)
c.442-6297G>C (n.442-6297G>C)
2g.233760737G=CA1335889383UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6297G= (n.856-6297G=)
c.868-6297G= (n.868-6297G=)
c.862-6297G= (n.862-6297G=)
c.450G= (p.Thr150=)
c.61-6297G= (n.61-6297G=)
c.442-6297G= (n.442-6297G=)
2g.233760737G>TCA431960435UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6297G>T (n.856-6297G>T)
c.868-6297G>T (n.868-6297G>T)
c.862-6297G>T (n.862-6297G>T)
c.450G>T (p.Thr150=)
c.61-6297G>T (n.61-6297G>T)
c.442-6297G>T (n.442-6297G>T)
2g.233760738G>ACA351066706UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.856-6296G>A (n.856-6296G>A)
c.868-6296G>A (n.868-6296G>A)
c.862-6296G>A (n.862-6296G>A)
c.451G>A (p.Asp151Asn)
c.61-6296G>A (n.61-6296G>A)
c.442-6296G>A (n.442-6296G>A)
COSMIC

Number of alleles fetched