Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233672503T>ACA351079601UGT1A10,UGT1A8,UGT1A9c.855+35126T>A (n.855+35126T>A)
c.855+53941T>A (n.855+53941T>A)
c.569T>A (p.Val190Asp)
2g.233672503T>CCA351079604UGT1A10,UGT1A8,UGT1A9c.855+35126T>C (n.855+35126T>C)
c.855+53941T>C (n.855+53941T>C)
c.569T>C (p.Val190Ala)
 COSMIC
2g.233672503T>GCA351079611UGT1A10,UGT1A8,UGT1A9c.855+35126T>G (n.855+35126T>G)
c.855+53941T>G (n.855+53941T>G)
c.569T>G (p.Val190Gly)
2g.233672504C>ACA431957844UGT1A10,UGT1A8,UGT1A9c.855+35127C>A (n.855+35127C>A)
c.855+53942C>A (n.855+53942C>A)
c.570C>A (p.Val190=)
2g.233672504C>GCA431957847UGT1A10,UGT1A8,UGT1A9c.855+35127C>G (n.855+35127C>G)
c.855+53942C>G (n.855+53942C>G)
c.570C>G (p.Val190=)
2g.233672504C>TCA431957846UGT1A10,UGT1A8,UGT1A9c.855+35127C>T (n.855+35127C>T)
c.855+53942C>T (n.855+53942C>T)
c.570C>T (p.Val190=)
 dbSNP gnomAD v3 gnomAD v4
2g.233672505C>ACA351079618UGT1A10,UGT1A8,UGT1A9c.855+35128C>A (n.855+35128C>A)
c.855+53943C>A (n.855+53943C>A)
c.571C>A (p.Pro191Thr)
2g.233672505C=CA1335852391UGT1A10,UGT1A8,UGT1A9c.855+35128C= (n.855+35128C=)
c.855+53943C= (n.855+53943C=)
c.571C= (p.Pro191=)
2g.233672505C>GCA351079620UGT1A10,UGT1A8,UGT1A9c.855+35128C>G (n.855+35128C>G)
c.855+53943C>G (n.855+53943C>G)
c.571C>G (p.Pro191Ala)
2g.233672505C>TCA2178079UGT1A10,UGT1A8,UGT1A9c.855+35128C>T (n.855+35128C>T)
c.855+53943C>T (n.855+53943C>T)
c.571C>T (p.Pro191Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233672506C>ACA351079626UGT1A10,UGT1A8,UGT1A9c.855+35129C>A (n.855+35129C>A)
c.855+53944C>A (n.855+53944C>A)
c.572C>A (p.Pro191His)
2g.233672506C=CA1335852396UGT1A10,UGT1A8,UGT1A9c.855+35129C= (n.855+35129C=)
c.855+53944C= (n.855+53944C=)
c.572C= (p.Pro191=)
2g.233672506C>GCA351079624UGT1A10,UGT1A8,UGT1A9c.855+35129C>G (n.855+35129C>G)
c.855+53944C>G (n.855+53944C>G)
c.572C>G (p.Pro191Arg)
2g.233672506C>TCA2178080UGT1A10,UGT1A8,UGT1A9c.855+35129C>T (n.855+35129C>T)
c.855+53944C>T (n.855+53944C>T)
c.572C>T (p.Pro191Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.233672507C>ACA431957849UGT1A10,UGT1A8,UGT1A9c.855+35130C>A (n.855+35130C>A)
c.855+53945C>A (n.855+53945C>A)
c.573C>A (p.Pro191=)
 gnomAD v4
2g.233672507C>GCA431957850UGT1A10,UGT1A8,UGT1A9c.855+35130C>G (n.855+35130C>G)
c.855+53945C>G (n.855+53945C>G)
c.573C>G (p.Pro191=)
 gnomAD v4
2g.233672507C>TCA431957851UGT1A10,UGT1A8,UGT1A9c.855+35130C>T (n.855+35130C>T)
c.855+53945C>T (n.855+53945C>T)
c.573C>T (p.Pro191=)
2g.233672507_233672509delinsCAGCA1335852401UGT1A10,UGT1A8,UGT1A9c.855+35130_855+35132delinsCAG (n.855+35130_855+35132delinsCAG)
c.855+53945_855+53947delinsCAG (n.855+53945_855+53947delinsCAG)
c.573_575delinsCAG (p.Pro191=)
2g.233672508A=CA1335852404UGT1A10,UGT1A8,UGT1A9c.855+35131A= (n.855+35131A=)
c.855+53946A= (n.855+53946A=)
c.574A= (p.Arg192=)
2g.233672508A>CCA431957853UGT1A10,UGT1A8,UGT1A9c.855+35131A>C (n.855+35131A>C)
c.855+53946A>C (n.855+53946A>C)
c.574A>C (p.Arg192=)
2g.233672508A>GCA351079631UGT1A10,UGT1A8,UGT1A9c.855+35131A>G (n.855+35131A>G)
c.855+53946A>G (n.855+53946A>G)
c.574A>G (p.Arg192Gly)
2g.233672508A>TCA351079634UGT1A10,UGT1A8,UGT1A9c.855+35131A>T (n.855+35131A>T)
c.855+53946A>T (n.855+53946A>T)
c.574A>T (p.Arg192Ter)
2g.233672509_233672510delCA540311190UGT1A10,UGT1A8,UGT1A9c.855+35132_855+35133del (n.855+35132_855+35133del)
c.855+53947_855+53948del (n.855+53947_855+53948del)
c.575_576del (p.Arg192AsnfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233672508_233672509insATCA766276758UGT1A10,UGT1A8,UGT1A9c.855+35131_855+35132insAT (n.855+35131_855+35132insAT)
c.855+53946_855+53947insAT (n.855+53946_855+53947insAT)
c.574_575insAT (p.Arg192AsnfsTer5)
 dbSNP
2g.233672509G>ACA351079638UGT1A10,UGT1A8,UGT1A9c.855+35132G>A (n.855+35132G>A)
c.855+53947G>A (n.855+53947G>A)
c.575G>A (p.Arg192Lys)
 gnomAD v4
2g.233672509G>CCA351079645UGT1A10,UGT1A8,UGT1A9c.855+35132G>C (n.855+35132G>C)
c.855+53947G>C (n.855+53947G>C)
c.575G>C (p.Arg192Thr)
2g.233672509G>TCA351079649UGT1A10,UGT1A8,UGT1A9c.855+35132G>T (n.855+35132G>T)
c.855+53947G>T (n.855+53947G>T)
c.575G>T (p.Arg192Ile)
2g.233672509_233672510delinsGACA1335852409UGT1A10,UGT1A8,UGT1A9c.855+35132_855+35133delinsGA (n.855+35132_855+35133delinsGA)
c.855+53947_855+53948delinsGA (n.855+53947_855+53948delinsGA)
c.575_576delinsGA (p.Arg192=)
2g.233672510A>CCA351079653UGT1A10,UGT1A8,UGT1A9c.855+35133A>C (n.855+35133A>C)
c.855+53948A>C (n.855+53948A>C)
c.576A>C (p.Arg192Ser)
2g.233672510A>GCA431957857UGT1A10,UGT1A8,UGT1A9c.855+35133A>G (n.855+35133A>G)
c.855+53948A>G (n.855+53948A>G)
c.576A>G (p.Arg192=)
2g.233672510A>TCA351079656UGT1A10,UGT1A8,UGT1A9c.855+35133A>T (n.855+35133A>T)
c.855+53948A>T (n.855+53948A>T)
c.576A>T (p.Arg192Ser)
2g.233672511delCA1043550764UGT1A10,UGT1A8,UGT1A9c.855+35134del (n.855+35134del)
c.855+53949del (n.855+53949del)
c.577del (p.Ile193PhefsTer3)
 dbSNP gnomAD v3 gnomAD v4
2g.233672510_233672512delinsAATCA1335852413UGT1A10,UGT1A8,UGT1A9c.855+35133_855+35135delinsAAT (n.855+35133_855+35135delinsAAT)
c.855+53948_855+53950delinsAAT (n.855+53948_855+53950delinsAAT)
c.576_578delinsAAT (p.Arg192=)
2g.233672511A=CA1335852418UGT1A10,UGT1A8,UGT1A9c.855+35134A= (n.855+35134A=)
c.855+53949A= (n.855+53949A=)
c.577A= (p.Ile193=)
2g.233672511A>CCA2178081UGT1A10,UGT1A8,UGT1A9c.855+35134A>C (n.855+35134A>C)
c.855+53949A>C (n.855+53949A>C)
c.577A>C (p.Ile193Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.233672511A>GCA351079663UGT1A10,UGT1A8,UGT1A9c.855+35134A>G (n.855+35134A>G)
c.855+53949A>G (n.855+53949A>G)
c.577A>G (p.Ile193Val)
 dbSNP gnomAD v3 gnomAD v4
2g.233672511A>TCA351079669UGT1A10,UGT1A8,UGT1A9c.855+35134A>T (n.855+35134A>T)
c.855+53949A>T (n.855+53949A>T)
c.577A>T (p.Ile193Phe)
2g.233672511_233672512delCA766276767UGT1A10,UGT1A8,UGT1A9c.855+35134_855+35135del (n.855+35134_855+35135del)
c.855+53949_855+53950del (n.855+53949_855+53950del)
c.577_578del (p.Ile193SerfsTer?)
 dbSNP
2g.233672512T>ACA67608514UGT1A10,UGT1A8,UGT1A9c.855+35135T>A (n.855+35135T>A)
c.855+53950T>A (n.855+53950T>A)
c.578T>A (p.Ile193Asn)
 dbSNP
2g.233672512T>CCA351079676UGT1A10,UGT1A8,UGT1A9c.855+35135T>C (n.855+35135T>C)
c.855+53950T>C (n.855+53950T>C)
c.578T>C (p.Ile193Thr)
2g.233672512T>GCA351079686UGT1A10,UGT1A8,UGT1A9c.855+35135T>G (n.855+35135T>G)
c.855+53950T>G (n.855+53950T>G)
c.578T>G (p.Ile193Ser)
2g.233672512T=CA1335852422UGT1A10,UGT1A8,UGT1A9c.855+35135T= (n.855+35135T=)
c.855+53950T= (n.855+53950T=)
c.578T= (p.Ile193=)
2g.233672512_233672513insGACA540311191UGT1A10,UGT1A8,UGT1A9c.855+35135_855+35136insGA (n.855+35135_855+35136insGA)
c.855+53950_855+53951insGA (n.855+53950_855+53951insGA)
c.578_579insGA (p.Ile193MetfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.233672513T>ACA431957861UGT1A10,UGT1A8,UGT1A9c.855+35136T>A (n.855+35136T>A)
c.855+53951T>A (n.855+53951T>A)
c.579T>A (p.Ile193=)
2g.233672513T>CCA431957862UGT1A10,UGT1A8,UGT1A9c.855+35136T>C (n.855+35136T>C)
c.855+53951T>C (n.855+53951T>C)
c.579T>C (p.Ile193=)
2g.233672513T>GCA351079688UGT1A10,UGT1A8,UGT1A9c.855+35136T>G (n.855+35136T>G)
c.855+53951T>G (n.855+53951T>G)
c.579T>G (p.Ile193Met)
2g.233672514C>ACA351079689UGT1A10,UGT1A8,UGT1A9c.855+35137C>A (n.855+35137C>A)
c.855+53952C>A (n.855+53952C>A)
c.580C>A (p.Leu194Ile)
 COSMIC
2g.233672514C>GCA351079690UGT1A10,UGT1A8,UGT1A9c.855+35137C>G (n.855+35137C>G)
c.855+53952C>G (n.855+53952C>G)
c.580C>G (p.Leu194Val)
2g.233672514C>TCA351079691UGT1A10,UGT1A8,UGT1A9c.855+35137C>T (n.855+35137C>T)
c.855+53952C>T (n.855+53952C>T)
c.580C>T (p.Leu194Phe)
2g.233672515T>ACA351079693UGT1A10,UGT1A8,UGT1A9c.855+35138T>A (n.855+35138T>A)
c.855+53953T>A (n.855+53953T>A)
c.581T>A (p.Leu194His)

Number of alleles fetched