Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233767840C= | CA1335895060 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233767840C>T | CA1335895061 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767841C= | CA1335895062 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233767841C>T | CA1335895063 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767844C= | CA1335895064 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233767844C>G | CA766291041 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767844C>T | CA2577284427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767845C>T | CA2754693424 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988-4C>T (n.988-4C>T) c.1000-4C>T (n.1000-4C>T) c.994-4C>T (n.994-4C>T) c.997-4C>T (n.997-4C>T) c.193-4C>T (n.193-4C>T) | |
2 | g.233767846C= | CA1335895065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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=) | |
2 | g.233767846C>G | CA1043571179 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767847A>C | CA351072661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767847A>G | CA351072666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767847A>T | CA351072675 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767848G>A | CA351072689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767848G>C | CA351072687 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767848G>T | CA351072682 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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) | |
2 | g.233767849G>A | CA351072698 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767849G>C | CA351072703 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988G>C (p.Val330Leu) c.1000G>C (p.Val334Leu) c.994G>C (p.Val332Leu) c.997G>C (p.Val333Leu) c.193G>C (p.Val65Leu) | |
2 | g.233767849G>T | CA351072718 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.988G>T (p.Val330Phe) c.1000G>T (p.Val334Phe) c.994G>T (p.Val332Phe) c.997G>T (p.Val333Phe) c.193G>T (p.Val65Phe) | |
2 | g.233767850T>A | CA351072723 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>A (p.Val330Asp) c.1001T>A (p.Val334Asp) c.995T>A (p.Val332Asp) c.998T>A (p.Val333Asp) c.194T>A (p.Val65Asp) | |
2 | g.233767850T>C | CA351072735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>C (p.Val330Ala) c.1001T>C (p.Val334Ala) c.995T>C (p.Val332Ala) c.998T>C (p.Val333Ala) c.194T>C (p.Val65Ala) | |
2 | g.233767850T>G | CA351072737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.989T>G (p.Val330Gly) c.1001T>G (p.Val334Gly) c.995T>G (p.Val332Gly) c.998T>G (p.Val333Gly) c.194T>G (p.Val65Gly) | |
2 | g.233767851C>A | CA431857495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>A (p.Val330=) c.1002C>A (p.Val334=) c.996C>A (p.Val332=) c.999C>A (p.Val333=) c.195C>A (p.Val65=) | |
2 | g.233767851C= | CA1335895066 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C= (p.Val330=) c.1002C= (p.Val334=) c.996C= (p.Val332=) c.999C= (p.Val333=) c.195C= (p.Val65=) | |
2 | g.233767851C>G | CA2179961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767851C>T | CA431857498 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.990C>T (p.Val330=) c.1002C>T (p.Val334=) c.996C>T (p.Val332=) c.999C>T (p.Val333=) c.195C>T (p.Val65=) | |
2 | g.233767852C>A | CA351072741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>A (p.Leu331Met) c.1003C>A (p.Leu335Met) c.997C>A (p.Leu333Met) c.1000C>A (p.Leu334Met) c.196C>A (p.Leu66Met) | |
2 | g.233767852C>G | CA351072743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>G (p.Leu331Val) c.1003C>G (p.Leu335Val) c.997C>G (p.Leu333Val) c.1000C>G (p.Leu334Val) c.196C>G (p.Leu66Val) | |
2 | g.233767852C>T | CA431857500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.991C>T (p.Leu331=) c.1003C>T (p.Leu335=) c.997C>T (p.Leu333=) c.1000C>T (p.Leu334=) c.196C>T (p.Leu66=) | |
2 | g.233767853T>A | CA2179962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767853T>C | CA351072750 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767853T>G | CA351072754 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T>G (p.Leu331Arg) c.1004T>G (p.Leu335Arg) c.998T>G (p.Leu333Arg) c.1001T>G (p.Leu334Arg) c.197T>G (p.Leu66Arg) | |
2 | g.233767853T= | CA1335895067 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992T= (p.Leu331=) c.1004T= (p.Leu335=) c.998T= (p.Leu333=) c.1001T= (p.Leu334=) c.197T= (p.Leu66=) | |
2 | g.233767853_233767854delinsTG | CA1335895068 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.992_993delinsTG (p.Leu331=) c.1004_1005delinsTG (p.Leu335=) c.998_999delinsTG (p.Leu333=) c.1001_1002delinsTG (p.Leu334=) c.197_198delinsTG (p.Leu66=) | |
2 | g.233767854del | CA916801553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993del (p.Trp332GlyfsTer?) c.1005del (p.Trp336GlyfsTer?) c.999del (p.Trp334GlyfsTer?) c.1002del (p.Trp335GlyfsTer?) c.198del (p.Trp67GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
2 | g.233767854G>A | CA431857510 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767854G>C | CA431857512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>C (p.Leu331=) c.1005G>C (p.Leu335=) c.999G>C (p.Leu333=) c.1002G>C (p.Leu334=) c.198G>C (p.Leu66=) | |
2 | g.233767854G>T | CA431857509 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.993G>T (p.Leu331=) c.1005G>T (p.Leu335=) c.999G>T (p.Leu333=) c.1002G>T (p.Leu334=) c.198G>T (p.Leu66=) | |
2 | g.233767855T>A | CA351072767 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>A (p.Trp332Arg) c.1006T>A (p.Trp336Arg) c.1000T>A (p.Trp334Arg) c.1003T>A (p.Trp335Arg) c.199T>A (p.Trp67Arg) | |
2 | g.233767855T>C | CA351072763 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>C (p.Trp332Arg) c.1006T>C (p.Trp336Arg) c.1000T>C (p.Trp334Arg) c.1003T>C (p.Trp335Arg) c.199T>C (p.Trp67Arg) | |
2 | g.233767855T>G | CA351072761 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.994T>G (p.Trp332Gly) c.1006T>G (p.Trp336Gly) c.1000T>G (p.Trp334Gly) c.1003T>G (p.Trp335Gly) c.199T>G (p.Trp67Gly) | |
2 | g.233767856G>A | CA351072771 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767856G>C | CA351072774 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767856G= | CA1335895069 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G= (p.Trp332=) c.1007G= (p.Trp336=) c.1001G= (p.Trp334=) c.1004G= (p.Trp335=) c.200G= (p.Trp67=) | |
2 | g.233767856G>T | CA351072780 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.995G>T (p.Trp332Leu) c.1007G>T (p.Trp336Leu) c.1001G>T (p.Trp334Leu) c.1004G>T (p.Trp335Leu) c.200G>T (p.Trp67Leu) | |
2 | g.233767857G>A | CA351072783 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.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 |
2 | g.233767857G>C | CA351072787 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>C (p.Trp332Cys) c.1008G>C (p.Trp336Cys) c.1002G>C (p.Trp334Cys) c.1005G>C (p.Trp335Cys) c.201G>C (p.Trp67Cys) | gnomAD v4 |
2 | g.233767857G= | CA1335895070 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G= (p.Trp332=) c.1008G= (p.Trp336=) c.1002G= (p.Trp334=) c.1005G= (p.Trp335=) c.201G= (p.Trp67=) | |
2 | g.233767857G>T | CA351072792 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.996G>T (p.Trp332Cys) c.1008G>T (p.Trp336Cys) c.1002G>T (p.Trp334Cys) c.1005G>T (p.Trp335Cys) c.201G>T (p.Trp67Cys) | gnomAD v4 |
2 | g.233767858C>A | CA431857529 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.997C>A (p.Arg333=) c.1009C>A (p.Arg337=) c.1003C>A (p.Arg335=) c.1006C>A (p.Arg336=) c.202C>A (p.Arg68=) |