Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.233767838G>CCA1335895059UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-11G>C (n.988-11G>C)
c.1000-11G>C (n.1000-11G>C)
c.994-11G>C (n.994-11G>C)
c.997-11G>C (n.997-11G>C)
c.193-11G>C (n.193-11G>C)
 dbSNP
2g.233767838G=CA1335895058UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-11G= (n.988-11G=)
c.1000-11G= (n.1000-11G=)
c.994-11G= (n.994-11G=)
c.997-11G= (n.997-11G=)
c.193-11G= (n.193-11G=)
2g.233767839C>ACA2663717137UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>A (n.988-10C>A)
c.1000-10C>A (n.1000-10C>A)
c.994-10C>A (n.994-10C>A)
c.997-10C>A (n.997-10C>A)
c.193-10C>A (n.193-10C>A)
 gnomAD v4
2g.233767839C>GCA2577284426UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>G (n.988-10C>G)
c.1000-10C>G (n.1000-10C>G)
c.994-10C>G (n.994-10C>G)
c.997-10C>G (n.997-10C>G)
c.193-10C>G (n.193-10C>G)
2g.233767839C>TCA2663717135UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-10C>T (n.988-10C>T)
c.1000-10C>T (n.1000-10C>T)
c.994-10C>T (n.994-10C>T)
c.997-10C>T (n.997-10C>T)
c.193-10C>T (n.193-10C>T)
 gnomAD v4
2g.233767840C=CA1335895060UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-9C= (n.988-9C=)
c.1000-9C= (n.1000-9C=)
c.994-9C= (n.994-9C=)
c.997-9C= (n.997-9C=)
c.193-9C= (n.193-9C=)
2g.233767840C>TCA1335895061UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-9C>T (n.988-9C>T)
c.1000-9C>T (n.1000-9C>T)
c.994-9C>T (n.994-9C>T)
c.997-9C>T (n.997-9C>T)
c.193-9C>T (n.193-9C>T)
 dbSNP gnomAD v4
2g.233767841C=CA1335895062UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-8C= (n.988-8C=)
c.1000-8C= (n.1000-8C=)
c.994-8C= (n.994-8C=)
c.997-8C= (n.997-8C=)
c.193-8C= (n.193-8C=)
2g.233767841C>TCA1335895063UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-8C>T (n.988-8C>T)
c.1000-8C>T (n.1000-8C>T)
c.994-8C>T (n.994-8C>T)
c.997-8C>T (n.997-8C>T)
c.193-8C>T (n.193-8C>T)
 dbSNP
2g.233767844C=CA1335895064UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C= (n.988-5C=)
c.1000-5C= (n.1000-5C=)
c.994-5C= (n.994-5C=)
c.997-5C= (n.997-5C=)
c.193-5C= (n.193-5C=)
2g.233767844C>GCA766291041UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C>G (n.988-5C>G)
c.1000-5C>G (n.1000-5C>G)
c.994-5C>G (n.994-5C>G)
c.997-5C>G (n.997-5C>G)
c.193-5C>G (n.193-5C>G)
 dbSNP
2g.233767844C>TCA2577284427UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-5C>T (n.988-5C>T)
c.1000-5C>T (n.1000-5C>T)
c.994-5C>T (n.994-5C>T)
c.997-5C>T (n.997-5C>T)
c.193-5C>T (n.193-5C>T)
2g.233767846C=CA1335895065UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-3C= (n.988-3C=)
c.1000-3C= (n.1000-3C=)
c.994-3C= (n.994-3C=)
c.997-3C= (n.997-3C=)
c.193-3C= (n.193-3C=)
2g.233767846C>GCA1043571179UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-3C>G (n.988-3C>G)
c.1000-3C>G (n.1000-3C>G)
c.994-3C>G (n.994-3C>G)
c.997-3C>G (n.997-3C>G)
c.193-3C>G (n.193-3C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.233767847A>CCA351072661UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>C (n.988-2A>C)
c.1000-2A>C (n.1000-2A>C)
c.994-2A>C (n.994-2A>C)
c.997-2A>C (n.997-2A>C)
c.193-2A>C (n.193-2A>C)
2g.233767847A>GCA351072666UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>G (n.988-2A>G)
c.1000-2A>G (n.1000-2A>G)
c.994-2A>G (n.994-2A>G)
c.997-2A>G (n.997-2A>G)
c.193-2A>G (n.193-2A>G)
2g.233767847A>TCA351072675UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-2A>T (n.988-2A>T)
c.1000-2A>T (n.1000-2A>T)
c.994-2A>T (n.994-2A>T)
c.997-2A>T (n.997-2A>T)
c.193-2A>T (n.193-2A>T)
2g.233767848G>ACA351072689UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>A (n.988-1G>A)
c.1000-1G>A (n.1000-1G>A)
c.994-1G>A (n.994-1G>A)
c.997-1G>A (n.997-1G>A)
c.193-1G>A (n.193-1G>A)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767848G>CCA351072687UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>C (n.988-1G>C)
c.1000-1G>C (n.1000-1G>C)
c.994-1G>C (n.994-1G>C)
c.997-1G>C (n.997-1G>C)
c.193-1G>C (n.193-1G>C)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767848G>TCA351072682UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988-1G>T (n.988-1G>T)
c.1000-1G>T (n.1000-1G>T)
c.994-1G>T (n.994-1G>T)
c.997-1G>T (n.997-1G>T)
c.193-1G>T (n.193-1G>T)
2g.233767849G>ACA351072698UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>A (p.Val330Ile)
c.1000G>A (p.Val334Ile)
c.994G>A (p.Val332Ile)
c.997G>A (p.Val333Ile)
c.193G>A (p.Val65Ile)
 ClinVar gnomAD v4
2g.233767849G>CCA351072703UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>C (p.Val330Leu)
c.1000G>C (p.Val334Leu)
c.994G>C (p.Val332Leu)
c.997G>C (p.Val333Leu)
c.193G>C (p.Val65Leu)
2g.233767849G>TCA351072718UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.988G>T (p.Val330Phe)
c.1000G>T (p.Val334Phe)
c.994G>T (p.Val332Phe)
c.997G>T (p.Val333Phe)
c.193G>T (p.Val65Phe)
2g.233767850T>ACA351072723UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>A (p.Val330Asp)
c.1001T>A (p.Val334Asp)
c.995T>A (p.Val332Asp)
c.998T>A (p.Val333Asp)
c.194T>A (p.Val65Asp)
2g.233767850T>CCA351072735UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>C (p.Val330Ala)
c.1001T>C (p.Val334Ala)
c.995T>C (p.Val332Ala)
c.998T>C (p.Val333Ala)
c.194T>C (p.Val65Ala)
2g.233767850T>GCA351072737UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.989T>G (p.Val330Gly)
c.1001T>G (p.Val334Gly)
c.995T>G (p.Val332Gly)
c.998T>G (p.Val333Gly)
c.194T>G (p.Val65Gly)
2g.233767851C>ACA431857495UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>A (p.Val330=)
c.1002C>A (p.Val334=)
c.996C>A (p.Val332=)
c.999C>A (p.Val333=)
c.195C>A (p.Val65=)
2g.233767851C=CA1335895066UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C= (p.Val330=)
c.1002C= (p.Val334=)
c.996C= (p.Val332=)
c.999C= (p.Val333=)
c.195C= (p.Val65=)
2g.233767851C>GCA2179961UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>G (p.Val330=)
c.1002C>G (p.Val334=)
c.996C>G (p.Val332=)
c.999C>G (p.Val333=)
c.195C>G (p.Val65=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767851C>TCA431857498UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.990C>T (p.Val330=)
c.1002C>T (p.Val334=)
c.996C>T (p.Val332=)
c.999C>T (p.Val333=)
c.195C>T (p.Val65=)
2g.233767852C>ACA351072741UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>A (p.Leu331Met)
c.1003C>A (p.Leu335Met)
c.997C>A (p.Leu333Met)
c.1000C>A (p.Leu334Met)
c.196C>A (p.Leu66Met)
2g.233767852C>GCA351072743UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>G (p.Leu331Val)
c.1003C>G (p.Leu335Val)
c.997C>G (p.Leu333Val)
c.1000C>G (p.Leu334Val)
c.196C>G (p.Leu66Val)
2g.233767852C>TCA431857500UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.991C>T (p.Leu331=)
c.1003C>T (p.Leu335=)
c.997C>T (p.Leu333=)
c.1000C>T (p.Leu334=)
c.196C>T (p.Leu66=)
2g.233767853T>ACA2179962UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>A (p.Leu331Gln)
c.1004T>A (p.Leu335Gln)
c.998T>A (p.Leu333Gln)
c.1001T>A (p.Leu334Gln)
c.197T>A (p.Leu66Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.233767853T>CCA351072750UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>C (p.Leu331Pro)
c.1004T>C (p.Leu335Pro)
c.998T>C (p.Leu333Pro)
c.1001T>C (p.Leu334Pro)
c.197T>C (p.Leu66Pro)
 gnomAD v4
2g.233767853T>GCA351072754UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T>G (p.Leu331Arg)
c.1004T>G (p.Leu335Arg)
c.998T>G (p.Leu333Arg)
c.1001T>G (p.Leu334Arg)
c.197T>G (p.Leu66Arg)
2g.233767853T=CA1335895067UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992T= (p.Leu331=)
c.1004T= (p.Leu335=)
c.998T= (p.Leu333=)
c.1001T= (p.Leu334=)
c.197T= (p.Leu66=)
2g.233767853_233767854delinsTGCA1335895068UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.992_993delinsTG (p.Leu331=)
c.1004_1005delinsTG (p.Leu335=)
c.998_999delinsTG (p.Leu333=)
c.1001_1002delinsTG (p.Leu334=)
c.197_198delinsTG (p.Leu66=)
2g.233767854delCA916801553UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993del (p.Trp332GlyfsTer?)
c.1005del (p.Trp336GlyfsTer?)
c.999del (p.Trp334GlyfsTer?)
c.1002del (p.Trp335GlyfsTer?)
c.198del (p.Trp67GlyfsTer?)
 ClinVar dbSNP gnomAD v4
2g.233767854G>ACA431857510UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>A (p.Leu331=)
c.1005G>A (p.Leu335=)
c.999G>A (p.Leu333=)
c.1002G>A (p.Leu334=)
c.198G>A (p.Leu66=)
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
2g.233767854G>CCA431857512UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>C (p.Leu331=)
c.1005G>C (p.Leu335=)
c.999G>C (p.Leu333=)
c.1002G>C (p.Leu334=)
c.198G>C (p.Leu66=)
2g.233767854G>TCA431857509UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.993G>T (p.Leu331=)
c.1005G>T (p.Leu335=)
c.999G>T (p.Leu333=)
c.1002G>T (p.Leu334=)
c.198G>T (p.Leu66=)
2g.233767855T>ACA351072767UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>A (p.Trp332Arg)
c.1006T>A (p.Trp336Arg)
c.1000T>A (p.Trp334Arg)
c.1003T>A (p.Trp335Arg)
c.199T>A (p.Trp67Arg)
2g.233767855T>CCA351072763UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>C (p.Trp332Arg)
c.1006T>C (p.Trp336Arg)
c.1000T>C (p.Trp334Arg)
c.1003T>C (p.Trp335Arg)
c.199T>C (p.Trp67Arg)
2g.233767855T>GCA351072761UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.994T>G (p.Trp332Gly)
c.1006T>G (p.Trp336Gly)
c.1000T>G (p.Trp334Gly)
c.1003T>G (p.Trp335Gly)
c.199T>G (p.Trp67Gly)
2g.233767856G>ACA351072771UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>A (p.Trp332Ter)
c.1007G>A (p.Trp336Ter)
c.1001G>A (p.Trp334Ter)
c.1004G>A (p.Trp335Ter)
c.200G>A (p.Trp67Ter)
 gnomAD v4
2g.233767856G>CCA351072774UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>C (p.Trp332Ser)
c.1007G>C (p.Trp336Ser)
c.1001G>C (p.Trp334Ser)
c.1004G>C (p.Trp335Ser)
c.200G>C (p.Trp67Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.233767856G=CA1335895069UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G= (p.Trp332=)
c.1007G= (p.Trp336=)
c.1001G= (p.Trp334=)
c.1004G= (p.Trp335=)
c.200G= (p.Trp67=)
2g.233767856G>TCA351072780UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.995G>T (p.Trp332Leu)
c.1007G>T (p.Trp336Leu)
c.1001G>T (p.Trp334Leu)
c.1004G>T (p.Trp335Leu)
c.200G>T (p.Trp67Leu)
2g.233767857G>ACA351072783UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9c.996G>A (p.Trp332Ter)
c.1008G>A (p.Trp336Ter)
c.1002G>A (p.Trp334Ter)
c.1005G>A (p.Trp335Ter)
c.201G>A (p.Trp67Ter)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched