Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233761058A>C | CA351068305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5976A>C (n.856-5976A>C) c.868-5976A>C (n.868-5976A>C) c.862-5976A>C (n.862-5976A>C) c.771A>C (p.Arg257Ser) c.61-5976A>C (n.61-5976A>C) c.442-5976A>C (n.442-5976A>C) | |
2 | g.233761058A>G | CA431960887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5976A>G (n.856-5976A>G) c.868-5976A>G (n.868-5976A>G) c.862-5976A>G (n.862-5976A>G) c.771A>G (p.Arg257=) c.61-5976A>G (n.61-5976A>G) c.442-5976A>G (n.442-5976A>G) | |
2 | g.233761058A>T | CA351068308 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5976A>T (n.856-5976A>T) c.868-5976A>T (n.868-5976A>T) c.862-5976A>T (n.862-5976A>T) c.771A>T (p.Arg257Ser) c.61-5976A>T (n.61-5976A>T) c.442-5976A>T (n.442-5976A>T) | |
2 | g.233761059A>C | CA351068311 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5975A>C (n.856-5975A>C) c.868-5975A>C (n.868-5975A>C) c.862-5975A>C (n.862-5975A>C) c.772A>C (p.Ser258Arg) c.61-5975A>C (n.61-5975A>C) c.442-5975A>C (n.442-5975A>C) | |
2 | g.233761059A>G | CA351068313 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5975A>G (n.856-5975A>G) c.868-5975A>G (n.868-5975A>G) c.862-5975A>G (n.862-5975A>G) c.772A>G (p.Ser258Gly) c.61-5975A>G (n.61-5975A>G) c.442-5975A>G (n.442-5975A>G) | |
2 | g.233761059A>T | CA351068314 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5975A>T (n.856-5975A>T) c.868-5975A>T (n.868-5975A>T) c.862-5975A>T (n.862-5975A>T) c.772A>T (p.Ser258Cys) c.61-5975A>T (n.61-5975A>T) c.442-5975A>T (n.442-5975A>T) | |
2 | g.233761060G>A | CA351068320 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5974G>A (n.856-5974G>A) c.868-5974G>A (n.868-5974G>A) c.862-5974G>A (n.862-5974G>A) c.773G>A (p.Ser258Asn) c.61-5974G>A (n.61-5974G>A) c.442-5974G>A (n.442-5974G>A) | gnomAD v4 |
2 | g.233761060G>C | CA351068323 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5974G>C (n.856-5974G>C) c.868-5974G>C (n.868-5974G>C) c.862-5974G>C (n.862-5974G>C) c.773G>C (p.Ser258Thr) c.61-5974G>C (n.61-5974G>C) c.442-5974G>C (n.442-5974G>C) | COSMIC |
2 | g.233761060G>T | CA351068318 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5974G>T (n.856-5974G>T) c.868-5974G>T (n.868-5974G>T) c.862-5974G>T (n.862-5974G>T) c.773G>T (p.Ser258Ile) c.61-5974G>T (n.61-5974G>T) c.442-5974G>T (n.442-5974G>T) | |
2 | g.233761061T>A | CA351068325 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5973T>A (n.856-5973T>A) c.868-5973T>A (n.868-5973T>A) c.862-5973T>A (n.862-5973T>A) c.774T>A (p.Ser258Arg) c.61-5973T>A (n.61-5973T>A) c.442-5973T>A (n.442-5973T>A) | |
2 | g.233761061T>C | CA431960888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5973T>C (n.856-5973T>C) c.868-5973T>C (n.868-5973T>C) c.862-5973T>C (n.862-5973T>C) c.774T>C (p.Ser258=) c.61-5973T>C (n.61-5973T>C) c.442-5973T>C (n.442-5973T>C) | |
2 | g.233761061T>G | CA351068328 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5973T>G (n.856-5973T>G) c.868-5973T>G (n.868-5973T>G) c.862-5973T>G (n.862-5973T>G) c.774T>G (p.Ser258Arg) c.61-5973T>G (n.61-5973T>G) c.442-5973T>G (n.442-5973T>G) | |
2 | g.233761062G>A | CA351068330 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5972G>A (n.856-5972G>A) c.868-5972G>A (n.868-5972G>A) c.862-5972G>A (n.862-5972G>A) c.775G>A (p.Asp259Asn) c.61-5972G>A (n.61-5972G>A) c.442-5972G>A (n.442-5972G>A) | |
2 | g.233761062G>C | CA351068331 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5972G>C (n.856-5972G>C) c.868-5972G>C (n.868-5972G>C) c.862-5972G>C (n.862-5972G>C) c.775G>C (p.Asp259His) c.61-5972G>C (n.61-5972G>C) c.442-5972G>C (n.442-5972G>C) | |
2 | g.233761062G= | CA1335889907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5972G= (n.856-5972G=) c.868-5972G= (n.868-5972G=) c.862-5972G= (n.862-5972G=) c.775G= (p.Asp259=) c.61-5972G= (n.61-5972G=) c.442-5972G= (n.442-5972G=) | |
2 | g.233761062G>T | CA351068334 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5972G>T (n.856-5972G>T) c.868-5972G>T (n.868-5972G>T) c.862-5972G>T (n.862-5972G>T) c.775G>T (p.Asp259Tyr) c.61-5972G>T (n.61-5972G>T) c.442-5972G>T (n.442-5972G>T) | dbSNP |
2 | g.233761063A>C | CA351068342 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5971A>C (n.856-5971A>C) c.868-5971A>C (n.868-5971A>C) c.862-5971A>C (n.862-5971A>C) c.776A>C (p.Asp259Ala) c.61-5971A>C (n.61-5971A>C) c.442-5971A>C (n.442-5971A>C) | |
2 | g.233761063A>G | CA351068337 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5971A>G (n.856-5971A>G) c.868-5971A>G (n.868-5971A>G) c.862-5971A>G (n.862-5971A>G) c.776A>G (p.Asp259Gly) c.61-5971A>G (n.61-5971A>G) c.442-5971A>G (n.442-5971A>G) | |
2 | g.233761063A>T | CA351068339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5971A>T (n.856-5971A>T) c.868-5971A>T (n.868-5971A>T) c.862-5971A>T (n.862-5971A>T) c.776A>T (p.Asp259Val) c.61-5971A>T (n.61-5971A>T) c.442-5971A>T (n.442-5971A>T) | |
2 | g.233761064C>A | CA351068348 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5970C>A (n.856-5970C>A) c.868-5970C>A (n.868-5970C>A) c.862-5970C>A (n.862-5970C>A) c.777C>A (p.Asp259Glu) c.61-5970C>A (n.61-5970C>A) c.442-5970C>A (n.442-5970C>A) | |
2 | g.233761064C>G | CA351068351 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5970C>G (n.856-5970C>G) c.868-5970C>G (n.868-5970C>G) c.862-5970C>G (n.862-5970C>G) c.777C>G (p.Asp259Glu) c.61-5970C>G (n.61-5970C>G) c.442-5970C>G (n.442-5970C>G) | |
2 | g.233761064C>T | CA431960889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5970C>T (n.856-5970C>T) c.868-5970C>T (n.868-5970C>T) c.862-5970C>T (n.862-5970C>T) c.777C>T (p.Asp259=) c.61-5970C>T (n.61-5970C>T) c.442-5970C>T (n.442-5970C>T) | |
2 | g.233761065T>A | CA351068356 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5969T>A (n.856-5969T>A) c.868-5969T>A (n.868-5969T>A) c.862-5969T>A (n.862-5969T>A) c.778T>A (p.Phe260Ile) c.61-5969T>A (n.61-5969T>A) c.442-5969T>A (n.442-5969T>A) | |
2 | g.233761065T>C | CA351068357 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5969T>C (n.856-5969T>C) c.868-5969T>C (n.868-5969T>C) c.862-5969T>C (n.862-5969T>C) c.778T>C (p.Phe260Leu) c.61-5969T>C (n.61-5969T>C) c.442-5969T>C (n.442-5969T>C) | |
2 | g.233761065T>G | CA351068358 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5969T>G (n.856-5969T>G) c.868-5969T>G (n.868-5969T>G) c.862-5969T>G (n.862-5969T>G) c.778T>G (p.Phe260Val) c.61-5969T>G (n.61-5969T>G) c.442-5969T>G (n.442-5969T>G) | |
2 | g.233761066T>A | CA351068359 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5968T>A (n.856-5968T>A) c.868-5968T>A (n.868-5968T>A) c.862-5968T>A (n.862-5968T>A) c.779T>A (p.Phe260Tyr) c.61-5968T>A (n.61-5968T>A) c.442-5968T>A (n.442-5968T>A) | |
2 | g.233761066T>C | CA351068361 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5968T>C (n.856-5968T>C) c.868-5968T>C (n.868-5968T>C) c.862-5968T>C (n.862-5968T>C) c.779T>C (p.Phe260Ser) c.61-5968T>C (n.61-5968T>C) c.442-5968T>C (n.442-5968T>C) | |
2 | g.233761066T>G | CA351068360 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5968T>G (n.856-5968T>G) c.868-5968T>G (n.868-5968T>G) c.862-5968T>G (n.862-5968T>G) c.779T>G (p.Phe260Cys) c.61-5968T>G (n.61-5968T>G) c.442-5968T>G (n.442-5968T>G) | gnomAD v4 |
2 | g.233761067T>A | CA351068362 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5967T>A (n.856-5967T>A) c.868-5967T>A (n.868-5967T>A) c.862-5967T>A (n.862-5967T>A) c.780T>A (p.Phe260Leu) c.61-5967T>A (n.61-5967T>A) c.442-5967T>A (n.442-5967T>A) | gnomAD v4 |
2 | g.233761067T>C | CA431960890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5967T>C (n.856-5967T>C) c.868-5967T>C (n.868-5967T>C) c.862-5967T>C (n.862-5967T>C) c.780T>C (p.Phe260=) c.61-5967T>C (n.61-5967T>C) c.442-5967T>C (n.442-5967T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761067T>G | CA351068364 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5967T>G (n.856-5967T>G) c.868-5967T>G (n.868-5967T>G) c.862-5967T>G (n.862-5967T>G) c.780T>G (p.Phe260Leu) c.61-5967T>G (n.61-5967T>G) c.442-5967T>G (n.442-5967T>G) | |
2 | g.233761067T= | CA1335889909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5967T= (n.856-5967T=) c.868-5967T= (n.868-5967T=) c.862-5967T= (n.862-5967T=) c.780T= (p.Phe260=) c.61-5967T= (n.61-5967T=) c.442-5967T= (n.442-5967T=) | |
2 | g.233761068G>A | CA351068367 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5966G>A (n.856-5966G>A) c.868-5966G>A (n.868-5966G>A) c.862-5966G>A (n.862-5966G>A) c.781G>A (p.Val261Met) c.61-5966G>A (n.61-5966G>A) c.442-5966G>A (n.442-5966G>A) | |
2 | g.233761068G>C | CA351068370 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5966G>C (n.856-5966G>C) c.868-5966G>C (n.868-5966G>C) c.862-5966G>C (n.862-5966G>C) c.781G>C (p.Val261Leu) c.61-5966G>C (n.61-5966G>C) c.442-5966G>C (n.442-5966G>C) | |
2 | g.233761068G>T | CA351068368 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5966G>T (n.856-5966G>T) c.868-5966G>T (n.868-5966G>T) c.862-5966G>T (n.862-5966G>T) c.781G>T (p.Val261Leu) c.61-5966G>T (n.61-5966G>T) c.442-5966G>T (n.442-5966G>T) | |
2 | g.233761069T>A | CA351068372 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5965T>A (n.856-5965T>A) c.868-5965T>A (n.868-5965T>A) c.862-5965T>A (n.862-5965T>A) c.782T>A (p.Val261Glu) c.61-5965T>A (n.61-5965T>A) c.442-5965T>A (n.442-5965T>A) | |
2 | g.233761069T>C | CA2179884 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5965T>C (n.856-5965T>C) c.868-5965T>C (n.868-5965T>C) c.862-5965T>C (n.862-5965T>C) c.782T>C (p.Val261Ala) c.61-5965T>C (n.61-5965T>C) c.442-5965T>C (n.442-5965T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761069T>G | CA351068375 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5965T>G (n.856-5965T>G) c.868-5965T>G (n.868-5965T>G) c.862-5965T>G (n.862-5965T>G) c.782T>G (p.Val261Gly) c.61-5965T>G (n.61-5965T>G) c.442-5965T>G (n.442-5965T>G) | |
2 | g.233761069T= | CA1335889912 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5965T= (n.856-5965T=) c.868-5965T= (n.868-5965T=) c.862-5965T= (n.862-5965T=) c.782T= (p.Val261=) c.61-5965T= (n.61-5965T=) c.442-5965T= (n.442-5965T=) | |
2 | g.233761070G>A | CA2179885 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5964G>A (n.856-5964G>A) c.868-5964G>A (n.868-5964G>A) c.862-5964G>A (n.862-5964G>A) c.783G>A (p.Val261=) c.61-5964G>A (n.61-5964G>A) c.442-5964G>A (n.442-5964G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761070G>C | CA431960891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5964G>C (n.856-5964G>C) c.868-5964G>C (n.868-5964G>C) c.862-5964G>C (n.862-5964G>C) c.783G>C (p.Val261=) c.61-5964G>C (n.61-5964G>C) c.442-5964G>C (n.442-5964G>C) | |
2 | g.233761070G= | CA1335889914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5964G= (n.856-5964G=) c.868-5964G= (n.868-5964G=) c.862-5964G= (n.862-5964G=) c.783G= (p.Val261=) c.61-5964G= (n.61-5964G=) c.442-5964G= (n.442-5964G=) | |
2 | g.233761070G>T | CA431960892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5964G>T (n.856-5964G>T) c.868-5964G>T (n.868-5964G>T) c.862-5964G>T (n.862-5964G>T) c.783G>T (p.Val261=) c.61-5964G>T (n.61-5964G>T) c.442-5964G>T (n.442-5964G>T) | |
2 | g.233761071A= | CA1335889917 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5963A= (n.856-5963A=) c.868-5963A= (n.868-5963A=) c.862-5963A= (n.862-5963A=) c.784A= (p.Lys262=) c.61-5963A= (n.61-5963A=) c.442-5963A= (n.442-5963A=) | |
2 | g.233761071A>C | CA351068380 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5963A>C (n.856-5963A>C) c.868-5963A>C (n.868-5963A>C) c.862-5963A>C (n.862-5963A>C) c.784A>C (p.Lys262Gln) c.61-5963A>C (n.61-5963A>C) c.442-5963A>C (n.442-5963A>C) | |
2 | g.233761071A>G | CA351068382 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5963A>G (n.856-5963A>G) c.868-5963A>G (n.868-5963A>G) c.862-5963A>G (n.862-5963A>G) c.784A>G (p.Lys262Glu) c.61-5963A>G (n.61-5963A>G) c.442-5963A>G (n.442-5963A>G) | |
2 | g.233761071A>T | CA351068385 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5963A>T (n.856-5963A>T) c.868-5963A>T (n.868-5963A>T) c.862-5963A>T (n.862-5963A>T) c.784A>T (p.Lys262Ter) c.61-5963A>T (n.61-5963A>T) c.442-5963A>T (n.442-5963A>T) | dbSNP |
2 | g.233761072A= | CA1335889919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5962A= (n.856-5962A=) c.868-5962A= (n.868-5962A=) c.862-5962A= (n.862-5962A=) c.785A= (p.Lys262=) c.61-5962A= (n.61-5962A=) c.442-5962A= (n.442-5962A=) | |
2 | g.233761072A>C | CA351068387 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5962A>C (n.856-5962A>C) c.868-5962A>C (n.868-5962A>C) c.862-5962A>C (n.862-5962A>C) c.785A>C (p.Lys262Thr) c.61-5962A>C (n.61-5962A>C) c.442-5962A>C (n.442-5962A>C) | |
2 | g.233761072A>G | CA351068389 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5962A>G (n.856-5962A>G) c.868-5962A>G (n.868-5962A>G) c.862-5962A>G (n.862-5962A>G) c.785A>G (p.Lys262Arg) c.61-5962A>G (n.61-5962A>G) c.442-5962A>G (n.442-5962A>G) | |
2 | g.233761072A>T | CA351068390 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5962A>T (n.856-5962A>T) c.868-5962A>T (n.868-5962A>T) c.862-5962A>T (n.862-5962A>T) c.785A>T (p.Lys262Met) c.61-5962A>T (n.61-5962A>T) c.442-5962A>T (n.442-5962A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761073G>A | CA431960893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5961G>A (n.856-5961G>A) c.868-5961G>A (n.868-5961G>A) c.862-5961G>A (n.862-5961G>A) c.786G>A (p.Lys262=) c.61-5961G>A (n.61-5961G>A) c.442-5961G>A (n.442-5961G>A) | |
2 | g.233761073G>C | CA351068393 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5961G>C (n.856-5961G>C) c.868-5961G>C (n.868-5961G>C) c.862-5961G>C (n.862-5961G>C) c.786G>C (p.Lys262Asn) c.61-5961G>C (n.61-5961G>C) c.442-5961G>C (n.442-5961G>C) | |
2 | g.233761073G>T | CA351068394 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5961G>T (n.856-5961G>T) c.868-5961G>T (n.868-5961G>T) c.862-5961G>T (n.862-5961G>T) c.786G>T (p.Lys262Asn) c.61-5961G>T (n.61-5961G>T) c.442-5961G>T (n.442-5961G>T) | |
2 | g.233761074G>A | CA351068403 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5960G>A (n.856-5960G>A) c.868-5960G>A (n.868-5960G>A) c.862-5960G>A (n.862-5960G>A) c.787G>A (p.Asp263Asn) c.61-5960G>A (n.61-5960G>A) c.442-5960G>A (n.442-5960G>A) | |
2 | g.233761074G>C | CA351068396 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5960G>C (n.856-5960G>C) c.868-5960G>C (n.868-5960G>C) c.862-5960G>C (n.862-5960G>C) c.787G>C (p.Asp263His) c.61-5960G>C (n.61-5960G>C) c.442-5960G>C (n.442-5960G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761074G= | CA1335889921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5960G= (n.856-5960G=) c.868-5960G= (n.868-5960G=) c.862-5960G= (n.862-5960G=) c.787G= (p.Asp263=) c.61-5960G= (n.61-5960G=) c.442-5960G= (n.442-5960G=) | |
2 | g.233761074G>T | CA351068398 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5960G>T (n.856-5960G>T) c.868-5960G>T (n.868-5960G>T) c.862-5960G>T (n.862-5960G>T) c.787G>T (p.Asp263Tyr) c.61-5960G>T (n.61-5960G>T) c.442-5960G>T (n.442-5960G>T) | |
2 | g.233761075A>C | CA351068405 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5959A>C (n.856-5959A>C) c.868-5959A>C (n.868-5959A>C) c.862-5959A>C (n.862-5959A>C) c.788A>C (p.Asp263Ala) c.61-5959A>C (n.61-5959A>C) c.442-5959A>C (n.442-5959A>C) | |
2 | g.233761075A>G | CA351068406 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5959A>G (n.856-5959A>G) c.868-5959A>G (n.868-5959A>G) c.862-5959A>G (n.862-5959A>G) c.788A>G (p.Asp263Gly) c.61-5959A>G (n.61-5959A>G) c.442-5959A>G (n.442-5959A>G) | |
2 | g.233761075A>T | CA351068408 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5959A>T (n.856-5959A>T) c.868-5959A>T (n.868-5959A>T) c.862-5959A>T (n.862-5959A>T) c.788A>T (p.Asp263Val) c.61-5959A>T (n.61-5959A>T) c.442-5959A>T (n.442-5959A>T) | |
2 | g.233761076T>A | CA351068411 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5958T>A (n.856-5958T>A) c.868-5958T>A (n.868-5958T>A) c.862-5958T>A (n.862-5958T>A) c.789T>A (p.Asp263Glu) c.61-5958T>A (n.61-5958T>A) c.442-5958T>A (n.442-5958T>A) | gnomAD v4 |
2 | g.233761076T>C | CA431960894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5958T>C (n.856-5958T>C) c.868-5958T>C (n.868-5958T>C) c.862-5958T>C (n.862-5958T>C) c.789T>C (p.Asp263=) c.61-5958T>C (n.61-5958T>C) c.442-5958T>C (n.442-5958T>C) | |
2 | g.233761076T>G | CA351068414 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5958T>G (n.856-5958T>G) c.868-5958T>G (n.868-5958T>G) c.862-5958T>G (n.862-5958T>G) c.789T>G (p.Asp263Glu) c.61-5958T>G (n.61-5958T>G) c.442-5958T>G (n.442-5958T>G) | |
2 | g.233761077T>A | CA351068415 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5957T>A (n.856-5957T>A) c.868-5957T>A (n.868-5957T>A) c.862-5957T>A (n.862-5957T>A) c.790T>A (p.Tyr264Asn) c.61-5957T>A (n.61-5957T>A) c.442-5957T>A (n.442-5957T>A) | gnomAD v4 |
2 | g.233761077T>C | CA351068417 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5957T>C (n.856-5957T>C) c.868-5957T>C (n.868-5957T>C) c.862-5957T>C (n.862-5957T>C) c.790T>C (p.Tyr264His) c.61-5957T>C (n.61-5957T>C) c.442-5957T>C (n.442-5957T>C) | COSMIC COSMIC |
2 | g.233761077T>G | CA351068423 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5957T>G (n.856-5957T>G) c.868-5957T>G (n.868-5957T>G) c.862-5957T>G (n.862-5957T>G) c.790T>G (p.Tyr264Asp) c.61-5957T>G (n.61-5957T>G) c.442-5957T>G (n.442-5957T>G) | |
2 | g.233761078A>C | CA351068427 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5956A>C (n.856-5956A>C) c.868-5956A>C (n.868-5956A>C) c.862-5956A>C (n.862-5956A>C) c.791A>C (p.Tyr264Ser) c.61-5956A>C (n.61-5956A>C) c.442-5956A>C (n.442-5956A>C) | |
2 | g.233761078A>G | CA351068429 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5956A>G (n.856-5956A>G) c.868-5956A>G (n.868-5956A>G) c.862-5956A>G (n.862-5956A>G) c.791A>G (p.Tyr264Cys) c.61-5956A>G (n.61-5956A>G) c.442-5956A>G (n.442-5956A>G) | gnomAD v4 |
2 | g.233761078A>T | CA351068433 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5956A>T (n.856-5956A>T) c.868-5956A>T (n.868-5956A>T) c.862-5956A>T (n.862-5956A>T) c.791A>T (p.Tyr264Phe) c.61-5956A>T (n.61-5956A>T) c.442-5956A>T (n.442-5956A>T) | |
2 | g.233761079C>A | CA351068437 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5955C>A (n.856-5955C>A) c.868-5955C>A (n.868-5955C>A) c.862-5955C>A (n.862-5955C>A) c.792C>A (p.Tyr264Ter) c.61-5955C>A (n.61-5955C>A) c.442-5955C>A (n.442-5955C>A) | |
2 | g.233761079C>G | CA351068436 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5955C>G (n.856-5955C>G) c.868-5955C>G (n.868-5955C>G) c.862-5955C>G (n.862-5955C>G) c.792C>G (p.Tyr264Ter) c.61-5955C>G (n.61-5955C>G) c.442-5955C>G (n.442-5955C>G) | |
2 | g.233761079C>T | CA431960895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5955C>T (n.856-5955C>T) c.868-5955C>T (n.868-5955C>T) c.862-5955C>T (n.862-5955C>T) c.792C>T (p.Tyr264=) c.61-5955C>T (n.61-5955C>T) c.442-5955C>T (n.442-5955C>T) | gnomAD v4 |
2 | g.233761080C>A | CA351068444 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5954C>A (n.856-5954C>A) c.868-5954C>A (n.868-5954C>A) c.862-5954C>A (n.862-5954C>A) c.793C>A (p.Pro265Thr) c.61-5954C>A (n.61-5954C>A) c.442-5954C>A (n.442-5954C>A) | |
2 | g.233761080C= | CA1335889923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5954C= (n.856-5954C=) c.868-5954C= (n.868-5954C=) c.862-5954C= (n.862-5954C=) c.793C= (p.Pro265=) c.61-5954C= (n.61-5954C=) c.442-5954C= (n.442-5954C=) | |
2 | g.233761080C>G | CA351068445 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5954C>G (n.856-5954C>G) c.868-5954C>G (n.868-5954C>G) c.862-5954C>G (n.862-5954C>G) c.793C>G (p.Pro265Ala) c.61-5954C>G (n.61-5954C>G) c.442-5954C>G (n.442-5954C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761080C>T | CA2179886 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5954C>T (n.856-5954C>T) c.868-5954C>T (n.868-5954C>T) c.862-5954C>T (n.862-5954C>T) c.793C>T (p.Pro265Ser) c.61-5954C>T (n.61-5954C>T) c.442-5954C>T (n.442-5954C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761081C>A | CA351068450 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5953C>A (n.856-5953C>A) c.868-5953C>A (n.868-5953C>A) c.862-5953C>A (n.862-5953C>A) c.794C>A (p.Pro265His) c.61-5953C>A (n.61-5953C>A) c.442-5953C>A (n.442-5953C>A) | gnomAD v4 COSMIC COSMIC |
2 | g.233761081C>G | CA351068452 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5953C>G (n.856-5953C>G) c.868-5953C>G (n.868-5953C>G) c.862-5953C>G (n.862-5953C>G) c.794C>G (p.Pro265Arg) c.61-5953C>G (n.61-5953C>G) c.442-5953C>G (n.442-5953C>G) | |
2 | g.233761081C>T | CA351068455 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5953C>T (n.856-5953C>T) c.868-5953C>T (n.868-5953C>T) c.862-5953C>T (n.862-5953C>T) c.794C>T (p.Pro265Leu) c.61-5953C>T (n.61-5953C>T) c.442-5953C>T (n.442-5953C>T) | gnomAD v4 |
2 | g.233761082T>A | CA431960898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5952T>A (n.856-5952T>A) c.868-5952T>A (n.868-5952T>A) c.862-5952T>A (n.862-5952T>A) c.795T>A (p.Pro265=) c.61-5952T>A (n.61-5952T>A) c.442-5952T>A (n.442-5952T>A) | |
2 | g.233761082T>C | CA431960897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5952T>C (n.856-5952T>C) c.868-5952T>C (n.868-5952T>C) c.862-5952T>C (n.862-5952T>C) c.795T>C (p.Pro265=) c.61-5952T>C (n.61-5952T>C) c.442-5952T>C (n.442-5952T>C) | |
2 | g.233761082T>G | CA431960896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5952T>G (n.856-5952T>G) c.868-5952T>G (n.868-5952T>G) c.862-5952T>G (n.862-5952T>G) c.795T>G (p.Pro265=) c.61-5952T>G (n.61-5952T>G) c.442-5952T>G (n.442-5952T>G) | |
2 | g.233761083A>C | CA431960899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5951A>C (n.856-5951A>C) c.868-5951A>C (n.868-5951A>C) c.862-5951A>C (n.862-5951A>C) c.796A>C (p.Arg266=) c.61-5951A>C (n.61-5951A>C) c.442-5951A>C (n.442-5951A>C) | |
2 | g.233761083A>G | CA351068457 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5951A>G (n.856-5951A>G) c.868-5951A>G (n.868-5951A>G) c.862-5951A>G (n.862-5951A>G) c.796A>G (p.Arg266Gly) c.61-5951A>G (n.61-5951A>G) c.442-5951A>G (n.442-5951A>G) | |
2 | g.233761083A>T | CA351068459 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5951A>T (n.856-5951A>T) c.868-5951A>T (n.868-5951A>T) c.862-5951A>T (n.862-5951A>T) c.796A>T (p.Arg266Trp) c.61-5951A>T (n.61-5951A>T) c.442-5951A>T (n.442-5951A>T) | |
2 | g.233761084G>A | CA351068461 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5950G>A (n.856-5950G>A) c.868-5950G>A (n.868-5950G>A) c.862-5950G>A (n.862-5950G>A) c.797G>A (p.Arg266Lys) c.61-5950G>A (n.61-5950G>A) c.442-5950G>A (n.442-5950G>A) | gnomAD v4 |
2 | g.233761084G>C | CA351068464 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5950G>C (n.856-5950G>C) c.868-5950G>C (n.868-5950G>C) c.862-5950G>C (n.862-5950G>C) c.797G>C (p.Arg266Thr) c.61-5950G>C (n.61-5950G>C) c.442-5950G>C (n.442-5950G>C) | |
2 | g.233761084G>T | CA351068466 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5950G>T (n.856-5950G>T) c.868-5950G>T (n.868-5950G>T) c.862-5950G>T (n.862-5950G>T) c.797G>T (p.Arg266Met) c.61-5950G>T (n.61-5950G>T) c.442-5950G>T (n.442-5950G>T) | |
2 | g.233761085G>A | CA431960900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5949G>A (n.856-5949G>A) c.868-5949G>A (n.868-5949G>A) c.862-5949G>A (n.862-5949G>A) c.798G>A (p.Arg266=) c.61-5949G>A (n.61-5949G>A) c.442-5949G>A (n.442-5949G>A) | |
2 | g.233761085G>C | CA351068469 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5949G>C (n.856-5949G>C) c.868-5949G>C (n.868-5949G>C) c.862-5949G>C (n.862-5949G>C) c.798G>C (p.Arg266Ser) c.61-5949G>C (n.61-5949G>C) c.442-5949G>C (n.442-5949G>C) | |
2 | g.233761085G>T | CA351068472 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5949G>T (n.856-5949G>T) c.868-5949G>T (n.868-5949G>T) c.862-5949G>T (n.862-5949G>T) c.798G>T (p.Arg266Ser) c.61-5949G>T (n.61-5949G>T) c.442-5949G>T (n.442-5949G>T) | |
2 | g.233761086C>A | CA351068484 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5948C>A (n.856-5948C>A) c.868-5948C>A (n.868-5948C>A) c.862-5948C>A (n.862-5948C>A) c.799C>A (p.Pro267Thr) c.61-5948C>A (n.61-5948C>A) c.442-5948C>A (n.442-5948C>A) | |
2 | g.233761086C>G | CA351068476 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5948C>G (n.856-5948C>G) c.868-5948C>G (n.868-5948C>G) c.862-5948C>G (n.862-5948C>G) c.799C>G (p.Pro267Ala) c.61-5948C>G (n.61-5948C>G) c.442-5948C>G (n.442-5948C>G) | |
2 | g.233761086C>T | CA351068478 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5948C>T (n.856-5948C>T) c.868-5948C>T (n.868-5948C>T) c.862-5948C>T (n.862-5948C>T) c.799C>T (p.Pro267Ser) c.61-5948C>T (n.61-5948C>T) c.442-5948C>T (n.442-5948C>T) | |
2 | g.233761088del | CA2586965612 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5946del (n.856-5946del) c.868-5946del (n.868-5946del) c.862-5946del (n.862-5946del) c.801del (p.Ile268SerfsTer?) c.61-5946del (n.61-5946del) c.442-5946del (n.442-5946del) | |
2 | g.233761087C>A | CA351068487 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5947C>A (n.856-5947C>A) c.868-5947C>A (n.868-5947C>A) c.862-5947C>A (n.862-5947C>A) c.800C>A (p.Pro267His) c.61-5947C>A (n.61-5947C>A) c.442-5947C>A (n.442-5947C>A) | |
2 | g.233761087C= | CA1335889925 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5947C= (n.856-5947C=) c.868-5947C= (n.868-5947C=) c.862-5947C= (n.862-5947C=) c.800C= (p.Pro267=) c.61-5947C= (n.61-5947C=) c.442-5947C= (n.442-5947C=) | |
2 | g.233761087C>G | CA2179887 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5947C>G (n.856-5947C>G) c.868-5947C>G (n.868-5947C>G) c.862-5947C>G (n.862-5947C>G) c.800C>G (p.Pro267Arg) c.61-5947C>G (n.61-5947C>G) c.442-5947C>G (n.442-5947C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.233761087C>T | CA351068490 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5947C>T (n.856-5947C>T) c.868-5947C>T (n.868-5947C>T) c.862-5947C>T (n.862-5947C>T) c.800C>T (p.Pro267Leu) c.61-5947C>T (n.61-5947C>T) c.442-5947C>T (n.442-5947C>T) | gnomAD v4 |
2 | g.233761088C>A | CA431960901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5946C>A (n.856-5946C>A) c.868-5946C>A (n.868-5946C>A) c.862-5946C>A (n.862-5946C>A) c.801C>A (p.Pro267=) c.61-5946C>A (n.61-5946C>A) c.442-5946C>A (n.442-5946C>A) | |
2 | g.233761088C= | CA1335889929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5946C= (n.856-5946C=) c.868-5946C= (n.868-5946C=) c.862-5946C= (n.862-5946C=) c.801C= (p.Pro267=) c.61-5946C= (n.61-5946C=) c.442-5946C= (n.442-5946C=) | |
2 | g.233761088C>G | CA431960902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5946C>G (n.856-5946C>G) c.868-5946C>G (n.868-5946C>G) c.862-5946C>G (n.862-5946C>G) c.801C>G (p.Pro267=) c.61-5946C>G (n.61-5946C>G) c.442-5946C>G (n.442-5946C>G) | |
2 | g.233761088C>T | CA2179888 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5946C>T (n.856-5946C>T) c.868-5946C>T (n.868-5946C>T) c.862-5946C>T (n.862-5946C>T) c.801C>T (p.Pro267=) c.61-5946C>T (n.61-5946C>T) c.442-5946C>T (n.442-5946C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761089A= | CA1335889933 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5945A= (n.856-5945A=) c.868-5945A= (n.868-5945A=) c.862-5945A= (n.862-5945A=) c.802A= (p.Ile268=) c.61-5945A= (n.61-5945A=) c.442-5945A= (n.442-5945A=) | |
2 | g.233761089A>C | CA351068493 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5945A>C (n.856-5945A>C) c.868-5945A>C (n.868-5945A>C) c.862-5945A>C (n.862-5945A>C) c.802A>C (p.Ile268Leu) c.61-5945A>C (n.61-5945A>C) c.442-5945A>C (n.442-5945A>C) | |
2 | g.233761089A>G | CA351068495 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5945A>G (n.856-5945A>G) c.868-5945A>G (n.868-5945A>G) c.862-5945A>G (n.862-5945A>G) c.802A>G (p.Ile268Val) c.61-5945A>G (n.61-5945A>G) c.442-5945A>G (n.442-5945A>G) | dbSNP |
2 | g.233761089A>T | CA351068497 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5945A>T (n.856-5945A>T) c.868-5945A>T (n.868-5945A>T) c.862-5945A>T (n.862-5945A>T) c.802A>T (p.Ile268Phe) c.61-5945A>T (n.61-5945A>T) c.442-5945A>T (n.442-5945A>T) | |
2 | g.233761090T>A | CA351068500 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5944T>A (n.856-5944T>A) c.868-5944T>A (n.868-5944T>A) c.862-5944T>A (n.862-5944T>A) c.803T>A (p.Ile268Asn) c.61-5944T>A (n.61-5944T>A) c.442-5944T>A (n.442-5944T>A) | gnomAD v4 |
2 | g.233761090T>C | CA351068502 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5944T>C (n.856-5944T>C) c.868-5944T>C (n.868-5944T>C) c.862-5944T>C (n.862-5944T>C) c.803T>C (p.Ile268Thr) c.61-5944T>C (n.61-5944T>C) c.442-5944T>C (n.442-5944T>C) | |
2 | g.233761090T>G | CA351068505 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5944T>G (n.856-5944T>G) c.868-5944T>G (n.868-5944T>G) c.862-5944T>G (n.862-5944T>G) c.803T>G (p.Ile268Ser) c.61-5944T>G (n.61-5944T>G) c.442-5944T>G (n.442-5944T>G) | |
2 | g.233761091C>A | CA431960903 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5943C>A (n.856-5943C>A) c.868-5943C>A (n.868-5943C>A) c.862-5943C>A (n.862-5943C>A) c.804C>A (p.Ile268=) c.61-5943C>A (n.61-5943C>A) c.442-5943C>A (n.442-5943C>A) | |
2 | g.233761091C= | CA1335889935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5943C= (n.856-5943C=) c.868-5943C= (n.868-5943C=) c.862-5943C= (n.862-5943C=) c.804C= (p.Ile268=) c.61-5943C= (n.61-5943C=) c.442-5943C= (n.442-5943C=) | |
2 | g.233761091C>G | CA351068508 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5943C>G (n.856-5943C>G) c.868-5943C>G (n.868-5943C>G) c.862-5943C>G (n.862-5943C>G) c.804C>G (p.Ile268Met) c.61-5943C>G (n.61-5943C>G) c.442-5943C>G (n.442-5943C>G) | |
2 | g.233761091C>T | CA2179889 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5943C>T (n.856-5943C>T) c.868-5943C>T (n.868-5943C>T) c.862-5943C>T (n.862-5943C>T) c.804C>T (p.Ile268=) c.61-5943C>T (n.61-5943C>T) c.442-5943C>T (n.442-5943C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761092A>C | CA351068517 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5942A>C (n.856-5942A>C) c.868-5942A>C (n.868-5942A>C) c.862-5942A>C (n.862-5942A>C) c.805A>C (p.Met269Leu) c.61-5942A>C (n.61-5942A>C) c.442-5942A>C (n.442-5942A>C) | |
2 | g.233761092A>G | CA351068515 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5942A>G (n.856-5942A>G) c.868-5942A>G (n.868-5942A>G) c.862-5942A>G (n.862-5942A>G) c.805A>G (p.Met269Val) c.61-5942A>G (n.61-5942A>G) c.442-5942A>G (n.442-5942A>G) | |
2 | g.233761092A>T | CA351068512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5942A>T (n.856-5942A>T) c.868-5942A>T (n.868-5942A>T) c.862-5942A>T (n.862-5942A>T) c.805A>T (p.Met269Leu) c.61-5942A>T (n.61-5942A>T) c.442-5942A>T (n.442-5942A>T) | |
2 | g.233761093T>A | CA351068519 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5941T>A (n.856-5941T>A) c.868-5941T>A (n.868-5941T>A) c.862-5941T>A (n.862-5941T>A) c.806T>A (p.Met269Lys) c.61-5941T>A (n.61-5941T>A) c.442-5941T>A (n.442-5941T>A) | |
2 | g.233761093T>C | CA351068521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5941T>C (n.856-5941T>C) c.868-5941T>C (n.868-5941T>C) c.862-5941T>C (n.862-5941T>C) c.806T>C (p.Met269Thr) c.61-5941T>C (n.61-5941T>C) c.442-5941T>C (n.442-5941T>C) | |
2 | g.233761093T>G | CA351068520 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5941T>G (n.856-5941T>G) c.868-5941T>G (n.868-5941T>G) c.862-5941T>G (n.862-5941T>G) c.806T>G (p.Met269Arg) c.61-5941T>G (n.61-5941T>G) c.442-5941T>G (n.442-5941T>G) | gnomAD v4 |
2 | g.233761094G>A | CA351068522 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5940G>A (n.856-5940G>A) c.868-5940G>A (n.868-5940G>A) c.862-5940G>A (n.862-5940G>A) c.807G>A (p.Met269Ile) c.61-5940G>A (n.61-5940G>A) c.442-5940G>A (n.442-5940G>A) | |
2 | g.233761094G>C | CA351068524 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5940G>C (n.856-5940G>C) c.868-5940G>C (n.868-5940G>C) c.862-5940G>C (n.862-5940G>C) c.807G>C (p.Met269Ile) c.61-5940G>C (n.61-5940G>C) c.442-5940G>C (n.442-5940G>C) | |
2 | g.233761094G>T | CA351068525 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5940G>T (n.856-5940G>T) c.868-5940G>T (n.868-5940G>T) c.862-5940G>T (n.862-5940G>T) c.807G>T (p.Met269Ile) c.61-5940G>T (n.61-5940G>T) c.442-5940G>T (n.442-5940G>T) | |
2 | g.233761095C>A | CA351068528 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5939C>A (n.856-5939C>A) c.868-5939C>A (n.868-5939C>A) c.862-5939C>A (n.862-5939C>A) c.808C>A (p.Pro270Thr) c.61-5939C>A (n.61-5939C>A) c.442-5939C>A (n.442-5939C>A) | |
2 | g.233761095C= | CA1335889940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5939C= (n.856-5939C=) c.868-5939C= (n.868-5939C=) c.862-5939C= (n.862-5939C=) c.808C= (p.Pro270=) c.61-5939C= (n.61-5939C=) c.442-5939C= (n.442-5939C=) | |
2 | g.233761095C>G | CA351068534 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5939C>G (n.856-5939C>G) c.868-5939C>G (n.868-5939C>G) c.862-5939C>G (n.862-5939C>G) c.808C>G (p.Pro270Ala) c.61-5939C>G (n.61-5939C>G) c.442-5939C>G (n.442-5939C>G) | |
2 | g.233761095C>T | CA2179890 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5939C>T (n.856-5939C>T) c.868-5939C>T (n.868-5939C>T) c.862-5939C>T (n.862-5939C>T) c.808C>T (p.Pro270Ser) c.61-5939C>T (n.61-5939C>T) c.442-5939C>T (n.442-5939C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761096C>A | CA351068539 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5938C>A (n.856-5938C>A) c.868-5938C>A (n.868-5938C>A) c.862-5938C>A (n.862-5938C>A) c.809C>A (p.Pro270His) c.61-5938C>A (n.61-5938C>A) c.442-5938C>A (n.442-5938C>A) | |
2 | g.233761096C>G | CA351068542 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5938C>G (n.856-5938C>G) c.868-5938C>G (n.868-5938C>G) c.862-5938C>G (n.862-5938C>G) c.809C>G (p.Pro270Arg) c.61-5938C>G (n.61-5938C>G) c.442-5938C>G (n.442-5938C>G) | |
2 | g.233761096C>T | CA351068543 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5938C>T (n.856-5938C>T) c.868-5938C>T (n.868-5938C>T) c.862-5938C>T (n.862-5938C>T) c.809C>T (p.Pro270Leu) c.61-5938C>T (n.61-5938C>T) c.442-5938C>T (n.442-5938C>T) | |
2 | g.233761097C>A | CA431960905 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5937C>A (n.856-5937C>A) c.868-5937C>A (n.868-5937C>A) c.862-5937C>A (n.862-5937C>A) c.810C>A (p.Pro270=) c.61-5937C>A (n.61-5937C>A) c.442-5937C>A (n.442-5937C>A) | |
2 | g.233761097C>G | CA431960904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5937C>G (n.856-5937C>G) c.868-5937C>G (n.868-5937C>G) c.862-5937C>G (n.862-5937C>G) c.810C>G (p.Pro270=) c.61-5937C>G (n.61-5937C>G) c.442-5937C>G (n.442-5937C>G) | |
2 | g.233761097C>T | CA431960906 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5937C>T (n.856-5937C>T) c.868-5937C>T (n.868-5937C>T) c.862-5937C>T (n.862-5937C>T) c.810C>T (p.Pro270=) c.61-5937C>T (n.61-5937C>T) c.442-5937C>T (n.442-5937C>T) | |
2 | g.233761098A>C | CA351068544 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5936A>C (n.856-5936A>C) c.868-5936A>C (n.868-5936A>C) c.862-5936A>C (n.862-5936A>C) c.811A>C (p.Asn271His) c.61-5936A>C (n.61-5936A>C) c.442-5936A>C (n.442-5936A>C) | |
2 | g.233761098A>G | CA351068547 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5936A>G (n.856-5936A>G) c.868-5936A>G (n.868-5936A>G) c.862-5936A>G (n.862-5936A>G) c.811A>G (p.Asn271Asp) c.61-5936A>G (n.61-5936A>G) c.442-5936A>G (n.442-5936A>G) | |
2 | g.233761098A>T | CA351068548 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5936A>T (n.856-5936A>T) c.868-5936A>T (n.868-5936A>T) c.862-5936A>T (n.862-5936A>T) c.811A>T (p.Asn271Tyr) c.61-5936A>T (n.61-5936A>T) c.442-5936A>T (n.442-5936A>T) | |
2 | g.233761099A>C | CA351068551 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5935A>C (n.856-5935A>C) c.868-5935A>C (n.868-5935A>C) c.862-5935A>C (n.862-5935A>C) c.812A>C (p.Asn271Thr) c.61-5935A>C (n.61-5935A>C) c.442-5935A>C (n.442-5935A>C) | |
2 | g.233761099A>G | CA351068549 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5935A>G (n.856-5935A>G) c.868-5935A>G (n.868-5935A>G) c.862-5935A>G (n.862-5935A>G) c.812A>G (p.Asn271Ser) c.61-5935A>G (n.61-5935A>G) c.442-5935A>G (n.442-5935A>G) | gnomAD v4 |
2 | g.233761099A>T | CA351068550 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5935A>T (n.856-5935A>T) c.868-5935A>T (n.868-5935A>T) c.862-5935A>T (n.862-5935A>T) c.812A>T (p.Asn271Ile) c.61-5935A>T (n.61-5935A>T) c.442-5935A>T (n.442-5935A>T) | |
2 | g.233761100T>A | CA351068553 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5934T>A (n.856-5934T>A) c.868-5934T>A (n.868-5934T>A) c.862-5934T>A (n.862-5934T>A) c.813T>A (p.Asn271Lys) c.61-5934T>A (n.61-5934T>A) c.442-5934T>A (n.442-5934T>A) | |
2 | g.233761100T>C | CA431960907 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5934T>C (n.856-5934T>C) c.868-5934T>C (n.868-5934T>C) c.862-5934T>C (n.862-5934T>C) c.813T>C (p.Asn271=) c.61-5934T>C (n.61-5934T>C) c.442-5934T>C (n.442-5934T>C) | |
2 | g.233761100T>G | CA351068554 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5934T>G (n.856-5934T>G) c.868-5934T>G (n.868-5934T>G) c.862-5934T>G (n.862-5934T>G) c.813T>G (p.Asn271Lys) c.61-5934T>G (n.61-5934T>G) c.442-5934T>G (n.442-5934T>G) | |
2 | g.233761101A>C | CA351068558 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5933A>C (n.856-5933A>C) c.868-5933A>C (n.868-5933A>C) c.862-5933A>C (n.862-5933A>C) c.814A>C (p.Met272Leu) c.61-5933A>C (n.61-5933A>C) c.442-5933A>C (n.442-5933A>C) | |
2 | g.233761101A>G | CA351068560 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5933A>G (n.856-5933A>G) c.868-5933A>G (n.868-5933A>G) c.862-5933A>G (n.862-5933A>G) c.814A>G (p.Met272Val) c.61-5933A>G (n.61-5933A>G) c.442-5933A>G (n.442-5933A>G) | |
2 | g.233761101A>T | CA351068561 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5933A>T (n.856-5933A>T) c.868-5933A>T (n.868-5933A>T) c.862-5933A>T (n.862-5933A>T) c.814A>T (p.Met272Leu) c.61-5933A>T (n.61-5933A>T) c.442-5933A>T (n.442-5933A>T) | |
2 | g.233761102T>A | CA351068562 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5932T>A (n.856-5932T>A) c.868-5932T>A (n.868-5932T>A) c.862-5932T>A (n.862-5932T>A) c.815T>A (p.Met272Lys) c.61-5932T>A (n.61-5932T>A) c.442-5932T>A (n.442-5932T>A) | gnomAD v4 |
2 | g.233761102T>C | CA351068563 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5932T>C (n.856-5932T>C) c.868-5932T>C (n.868-5932T>C) c.862-5932T>C (n.862-5932T>C) c.815T>C (p.Met272Thr) c.61-5932T>C (n.61-5932T>C) c.442-5932T>C (n.442-5932T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761102T>G | CA351068564 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5932T>G (n.856-5932T>G) c.868-5932T>G (n.868-5932T>G) c.862-5932T>G (n.862-5932T>G) c.815T>G (p.Met272Arg) c.61-5932T>G (n.61-5932T>G) c.442-5932T>G (n.442-5932T>G) | |
2 | g.233761102T= | CA1335889942 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5932T= (n.856-5932T=) c.868-5932T= (n.868-5932T=) c.862-5932T= (n.862-5932T=) c.815T= (p.Met272=) c.61-5932T= (n.61-5932T=) c.442-5932T= (n.442-5932T=) | |
2 | g.233761103G>A | CA2179891 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5931G>A (n.856-5931G>A) c.868-5931G>A (n.868-5931G>A) c.862-5931G>A (n.862-5931G>A) c.816G>A (p.Met272Ile) c.61-5931G>A (n.61-5931G>A) c.442-5931G>A (n.442-5931G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761103G>C | CA351068566 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5931G>C (n.856-5931G>C) c.868-5931G>C (n.868-5931G>C) c.862-5931G>C (n.862-5931G>C) c.816G>C (p.Met272Ile) c.61-5931G>C (n.61-5931G>C) c.442-5931G>C (n.442-5931G>C) | |
2 | g.233761103G= | CA1335889945 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5931G= (n.856-5931G=) c.868-5931G= (n.868-5931G=) c.862-5931G= (n.862-5931G=) c.816G= (p.Met272=) c.61-5931G= (n.61-5931G=) c.442-5931G= (n.442-5931G=) | |
2 | g.233761103G>T | CA351068568 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5931G>T (n.856-5931G>T) c.868-5931G>T (n.868-5931G>T) c.862-5931G>T (n.862-5931G>T) c.816G>T (p.Met272Ile) c.61-5931G>T (n.61-5931G>T) c.442-5931G>T (n.442-5931G>T) | |
2 | g.233761104G>A | CA351068573 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5930G>A (n.856-5930G>A) c.868-5930G>A (n.868-5930G>A) c.862-5930G>A (n.862-5930G>A) c.817G>A (p.Val273Ile) c.61-5930G>A (n.61-5930G>A) c.442-5930G>A (n.442-5930G>A) | |
2 | g.233761104G>C | CA351068571 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5930G>C (n.856-5930G>C) c.868-5930G>C (n.868-5930G>C) c.862-5930G>C (n.862-5930G>C) c.817G>C (p.Val273Leu) c.61-5930G>C (n.61-5930G>C) c.442-5930G>C (n.442-5930G>C) | |
2 | g.233761104G= | CA1335889949 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5930G= (n.856-5930G=) c.868-5930G= (n.868-5930G=) c.862-5930G= (n.862-5930G=) c.817G= (p.Val273=) c.61-5930G= (n.61-5930G=) c.442-5930G= (n.442-5930G=) | |
2 | g.233761104G>T | CA67590512 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5930G>T (n.856-5930G>T) c.868-5930G>T (n.868-5930G>T) c.862-5930G>T (n.862-5930G>T) c.817G>T (p.Val273Phe) c.61-5930G>T (n.61-5930G>T) c.442-5930G>T (n.442-5930G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761105T>A | CA351068575 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5929T>A (n.856-5929T>A) c.868-5929T>A (n.868-5929T>A) c.862-5929T>A (n.862-5929T>A) c.818T>A (p.Val273Asp) c.61-5929T>A (n.61-5929T>A) c.442-5929T>A (n.442-5929T>A) | |
2 | g.233761105T>C | CA351068578 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5929T>C (n.856-5929T>C) c.868-5929T>C (n.868-5929T>C) c.862-5929T>C (n.862-5929T>C) c.818T>C (p.Val273Ala) c.61-5929T>C (n.61-5929T>C) c.442-5929T>C (n.442-5929T>C) | |
2 | g.233761105T>G | CA351068580 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5929T>G (n.856-5929T>G) c.868-5929T>G (n.868-5929T>G) c.862-5929T>G (n.862-5929T>G) c.818T>G (p.Val273Gly) c.61-5929T>G (n.61-5929T>G) c.442-5929T>G (n.442-5929T>G) | |
2 | g.233761109del | CA645531507 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5925del (n.856-5925del) c.868-5925del (n.868-5925del) c.862-5925del (n.862-5925del) c.822del (p.Phe274LeufsTer?) c.61-5925del (n.61-5925del) c.442-5925del (n.442-5925del) | COSMIC COSMIC |
2 | g.233761106T>A | CA431960909 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5928T>A (n.856-5928T>A) c.868-5928T>A (n.868-5928T>A) c.862-5928T>A (n.862-5928T>A) c.819T>A (p.Val273=) c.61-5928T>A (n.61-5928T>A) c.442-5928T>A (n.442-5928T>A) | |
2 | g.233761106T>C | CA431960910 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5928T>C (n.856-5928T>C) c.868-5928T>C (n.868-5928T>C) c.862-5928T>C (n.862-5928T>C) c.819T>C (p.Val273=) c.61-5928T>C (n.61-5928T>C) c.442-5928T>C (n.442-5928T>C) | |
2 | g.233761106T>G | CA431960911 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5928T>G (n.856-5928T>G) c.868-5928T>G (n.868-5928T>G) c.862-5928T>G (n.862-5928T>G) c.819T>G (p.Val273=) c.61-5928T>G (n.61-5928T>G) c.442-5928T>G (n.442-5928T>G) | |
2 | g.233761107T>A | CA351068584 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5927T>A (n.856-5927T>A) c.868-5927T>A (n.868-5927T>A) c.862-5927T>A (n.862-5927T>A) c.820T>A (p.Phe274Ile) c.61-5927T>A (n.61-5927T>A) c.442-5927T>A (n.442-5927T>A) | |
2 | g.233761107T>C | CA351068587 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5927T>C (n.856-5927T>C) c.868-5927T>C (n.868-5927T>C) c.862-5927T>C (n.862-5927T>C) c.820T>C (p.Phe274Leu) c.61-5927T>C (n.61-5927T>C) c.442-5927T>C (n.442-5927T>C) | |
2 | g.233761107T>G | CA351068592 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5927T>G (n.856-5927T>G) c.868-5927T>G (n.868-5927T>G) c.862-5927T>G (n.862-5927T>G) c.820T>G (p.Phe274Val) c.61-5927T>G (n.61-5927T>G) c.442-5927T>G (n.442-5927T>G) | |
2 | g.233761108T>A | CA351068598 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5926T>A (n.856-5926T>A) c.868-5926T>A (n.868-5926T>A) c.862-5926T>A (n.862-5926T>A) c.821T>A (p.Phe274Tyr) c.61-5926T>A (n.61-5926T>A) c.442-5926T>A (n.442-5926T>A) | |
2 | g.233761108T>C | CA351068594 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5926T>C (n.856-5926T>C) c.868-5926T>C (n.868-5926T>C) c.862-5926T>C (n.862-5926T>C) c.821T>C (p.Phe274Ser) c.61-5926T>C (n.61-5926T>C) c.442-5926T>C (n.442-5926T>C) | |
2 | g.233761108T>G | CA351068595 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5926T>G (n.856-5926T>G) c.868-5926T>G (n.868-5926T>G) c.862-5926T>G (n.862-5926T>G) c.821T>G (p.Phe274Cys) c.61-5926T>G (n.61-5926T>G) c.442-5926T>G (n.442-5926T>G) | |
2 | g.233761111_233761113del | CA2586965613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5923_856-5921del (n.856-5923_856-5921del) c.868-5923_868-5921del (n.868-5923_868-5921del) c.862-5923_862-5921del (n.862-5923_862-5921del) c.824_826del (p.Val275del) c.61-5923_61-5921del (n.61-5923_61-5921del) c.442-5923_442-5921del (n.442-5923_442-5921del) | |
2 | g.233761109T>A | CA351068601 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5925T>A (n.856-5925T>A) c.868-5925T>A (n.868-5925T>A) c.862-5925T>A (n.862-5925T>A) c.822T>A (p.Phe274Leu) c.61-5925T>A (n.61-5925T>A) c.442-5925T>A (n.442-5925T>A) | |
2 | g.233761109T>C | CA431960914 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5925T>C (n.856-5925T>C) c.868-5925T>C (n.868-5925T>C) c.862-5925T>C (n.862-5925T>C) c.822T>C (p.Phe274=) c.61-5925T>C (n.61-5925T>C) c.442-5925T>C (n.442-5925T>C) | dbSNP |
2 | g.233761109T>G | CA351068603 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5925T>G (n.856-5925T>G) c.868-5925T>G (n.868-5925T>G) c.862-5925T>G (n.862-5925T>G) c.822T>G (p.Phe274Leu) c.61-5925T>G (n.61-5925T>G) c.442-5925T>G (n.442-5925T>G) | |
2 | g.233761110G>A | CA351068606 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5924G>A (n.856-5924G>A) c.868-5924G>A (n.868-5924G>A) c.862-5924G>A (n.862-5924G>A) c.823G>A (p.Val275Ile) c.61-5924G>A (n.61-5924G>A) c.442-5924G>A (n.442-5924G>A) | gnomAD v4 |
2 | g.233761110G>C | CA351068607 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5924G>C (n.856-5924G>C) c.868-5924G>C (n.868-5924G>C) c.862-5924G>C (n.862-5924G>C) c.823G>C (p.Val275Leu) c.61-5924G>C (n.61-5924G>C) c.442-5924G>C (n.442-5924G>C) | |
2 | g.233761110G= | CA1335889953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5924G= (n.856-5924G=) c.868-5924G= (n.868-5924G=) c.862-5924G= (n.862-5924G=) c.823G= (p.Val275=) c.61-5924G= (n.61-5924G=) c.442-5924G= (n.442-5924G=) | |
2 | g.233761110G>T | CA351068609 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5924G>T (n.856-5924G>T) c.868-5924G>T (n.868-5924G>T) c.862-5924G>T (n.862-5924G>T) c.823G>T (p.Val275Phe) c.61-5924G>T (n.61-5924G>T) c.442-5924G>T (n.442-5924G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761111T>A | CA351068611 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5923T>A (n.856-5923T>A) c.868-5923T>A (n.868-5923T>A) c.862-5923T>A (n.862-5923T>A) c.824T>A (p.Val275Asp) c.61-5923T>A (n.61-5923T>A) c.442-5923T>A (n.442-5923T>A) | |
2 | g.233761111T>C | CA351068614 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5923T>C (n.856-5923T>C) c.868-5923T>C (n.868-5923T>C) c.862-5923T>C (n.862-5923T>C) c.824T>C (p.Val275Ala) c.61-5923T>C (n.61-5923T>C) c.442-5923T>C (n.442-5923T>C) | gnomAD v4 |
2 | g.233761111T>G | CA351068613 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5923T>G (n.856-5923T>G) c.868-5923T>G (n.868-5923T>G) c.862-5923T>G (n.862-5923T>G) c.824T>G (p.Val275Gly) c.61-5923T>G (n.61-5923T>G) c.442-5923T>G (n.442-5923T>G) | gnomAD v4 |
2 | g.233761112T>A | CA431960918 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5922T>A (n.856-5922T>A) c.868-5922T>A (n.868-5922T>A) c.862-5922T>A (n.862-5922T>A) c.825T>A (p.Val275=) c.61-5922T>A (n.61-5922T>A) c.442-5922T>A (n.442-5922T>A) | |
2 | g.233761112T>C | CA2179892 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5922T>C (n.856-5922T>C) c.868-5922T>C (n.868-5922T>C) c.862-5922T>C (n.862-5922T>C) c.825T>C (p.Val275=) c.61-5922T>C (n.61-5922T>C) c.442-5922T>C (n.442-5922T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761112T>G | CA431960919 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5922T>G (n.856-5922T>G) c.868-5922T>G (n.868-5922T>G) c.862-5922T>G (n.862-5922T>G) c.825T>G (p.Val275=) c.61-5922T>G (n.61-5922T>G) c.442-5922T>G (n.442-5922T>G) | |
2 | g.233761112T= | CA1335889959 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5922T= (n.856-5922T=) c.868-5922T= (n.868-5922T=) c.862-5922T= (n.862-5922T=) c.825T= (p.Val275=) c.61-5922T= (n.61-5922T=) c.442-5922T= (n.442-5922T=) | |
2 | g.233761113G>A | CA351068618 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5921G>A (n.856-5921G>A) c.868-5921G>A (n.868-5921G>A) c.862-5921G>A (n.862-5921G>A) c.826G>A (p.Gly276Ser) c.61-5921G>A (n.61-5921G>A) c.442-5921G>A (n.442-5921G>A) | |
2 | g.233761113G>C | CA2179894 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5921G>C (n.856-5921G>C) c.868-5921G>C (n.868-5921G>C) c.862-5921G>C (n.862-5921G>C) c.826G>C (p.Gly276Arg) c.61-5921G>C (n.61-5921G>C) c.442-5921G>C (n.442-5921G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761113G= | CA1335889964 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5921G= (n.856-5921G=) c.868-5921G= (n.868-5921G=) c.862-5921G= (n.862-5921G=) c.826G= (p.Gly276=) c.61-5921G= (n.61-5921G=) c.442-5921G= (n.442-5921G=) | |
2 | g.233761113G>T | CA2179893 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5921G>T (n.856-5921G>T) c.868-5921G>T (n.868-5921G>T) c.862-5921G>T (n.862-5921G>T) c.826G>T (p.Gly276Cys) c.61-5921G>T (n.61-5921G>T) c.442-5921G>T (n.442-5921G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761113_233761114insAAGGCA | CA2740378339 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5921_856-5920insAAGGCA (n.856-5921_856-5920insAAGGCA) c.868-5921_868-5920insAAGGCA (n.868-5921_868-5920insAAGGCA) c.862-5921_862-5920insAAGGCA (n.862-5921_862-5920insAAGGCA) c.826_827insAAGGCA (p.Gly276delinsGluGlySer) c.61-5921_61-5920insAAGGCA (n.61-5921_61-5920insAAGGCA) c.442-5921_442-5920insAAGGCA (n.442-5921_442-5920insAAGGCA) | |
2 | g.233761114G>A | CA2179895 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5920G>A (n.856-5920G>A) c.868-5920G>A (n.868-5920G>A) c.862-5920G>A (n.862-5920G>A) c.827G>A (p.Gly276Asp) c.61-5920G>A (n.61-5920G>A) c.442-5920G>A (n.442-5920G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761114G>C | CA351068625 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5920G>C (n.856-5920G>C) c.868-5920G>C (n.868-5920G>C) c.862-5920G>C (n.862-5920G>C) c.827G>C (p.Gly276Ala) c.61-5920G>C (n.61-5920G>C) c.442-5920G>C (n.442-5920G>C) | |
2 | g.233761114G= | CA1335889967 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5920G= (n.856-5920G=) c.868-5920G= (n.868-5920G=) c.862-5920G= (n.862-5920G=) c.827G= (p.Gly276=) c.61-5920G= (n.61-5920G=) c.442-5920G= (n.442-5920G=) | |
2 | g.233761114G>T | CA351068627 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5920G>T (n.856-5920G>T) c.868-5920G>T (n.868-5920G>T) c.862-5920G>T (n.862-5920G>T) c.827G>T (p.Gly276Val) c.61-5920G>T (n.61-5920G>T) c.442-5920G>T (n.442-5920G>T) | dbSNP |
2 | g.233761115T>A | CA431960922 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5919T>A (n.856-5919T>A) c.868-5919T>A (n.868-5919T>A) c.862-5919T>A (n.862-5919T>A) c.828T>A (p.Gly276=) c.61-5919T>A (n.61-5919T>A) c.442-5919T>A (n.442-5919T>A) | |
2 | g.233761115T>C | CA431960920 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5919T>C (n.856-5919T>C) c.868-5919T>C (n.868-5919T>C) c.862-5919T>C (n.862-5919T>C) c.828T>C (p.Gly276=) c.61-5919T>C (n.61-5919T>C) c.442-5919T>C (n.442-5919T>C) | |
2 | g.233761115T>G | CA431960921 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5919T>G (n.856-5919T>G) c.868-5919T>G (n.868-5919T>G) c.862-5919T>G (n.862-5919T>G) c.828T>G (p.Gly276=) c.61-5919T>G (n.61-5919T>G) c.442-5919T>G (n.442-5919T>G) | |
2 | g.233761116G>A | CA351068630 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5918G>A (n.856-5918G>A) c.868-5918G>A (n.868-5918G>A) c.862-5918G>A (n.862-5918G>A) c.829G>A (p.Gly277Arg) c.61-5918G>A (n.61-5918G>A) c.442-5918G>A (n.442-5918G>A) | |
2 | g.233761116G>C | CA351068632 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5918G>C (n.856-5918G>C) c.868-5918G>C (n.868-5918G>C) c.862-5918G>C (n.862-5918G>C) c.829G>C (p.Gly277Arg) c.61-5918G>C (n.61-5918G>C) c.442-5918G>C (n.442-5918G>C) | |
2 | g.233761116G>T | CA351068633 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5918G>T (n.856-5918G>T) c.868-5918G>T (n.868-5918G>T) c.862-5918G>T (n.862-5918G>T) c.829G>T (p.Gly277Ter) c.61-5918G>T (n.61-5918G>T) c.442-5918G>T (n.442-5918G>T) | |
2 | g.233761117G>A | CA351068641 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5917G>A (n.856-5917G>A) c.868-5917G>A (n.868-5917G>A) c.862-5917G>A (n.862-5917G>A) c.830G>A (p.Gly277Glu) c.61-5917G>A (n.61-5917G>A) c.442-5917G>A (n.442-5917G>A) | |
2 | g.233761117G>C | CA351068639 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5917G>C (n.856-5917G>C) c.868-5917G>C (n.868-5917G>C) c.862-5917G>C (n.862-5917G>C) c.830G>C (p.Gly277Ala) c.61-5917G>C (n.61-5917G>C) c.442-5917G>C (n.442-5917G>C) | |
2 | g.233761117G>T | CA351068636 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5917G>T (n.856-5917G>T) c.868-5917G>T (n.868-5917G>T) c.862-5917G>T (n.862-5917G>T) c.830G>T (p.Gly277Val) c.61-5917G>T (n.61-5917G>T) c.442-5917G>T (n.442-5917G>T) | |
2 | g.233761118A>C | CA431960923 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5916A>C (n.856-5916A>C) c.868-5916A>C (n.868-5916A>C) c.862-5916A>C (n.862-5916A>C) c.831A>C (p.Gly277=) c.61-5916A>C (n.61-5916A>C) c.442-5916A>C (n.442-5916A>C) | |
2 | g.233761118A>G | CA431960924 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5916A>G (n.856-5916A>G) c.868-5916A>G (n.868-5916A>G) c.862-5916A>G (n.862-5916A>G) c.831A>G (p.Gly277=) c.61-5916A>G (n.61-5916A>G) c.442-5916A>G (n.442-5916A>G) | |
2 | g.233761118A>T | CA431960926 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5916A>T (n.856-5916A>T) c.868-5916A>T (n.868-5916A>T) c.862-5916A>T (n.862-5916A>T) c.831A>T (p.Gly277=) c.61-5916A>T (n.61-5916A>T) c.442-5916A>T (n.442-5916A>T) | |
2 | g.233761119A>C | CA351068645 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5915A>C (n.856-5915A>C) c.868-5915A>C (n.868-5915A>C) c.862-5915A>C (n.862-5915A>C) c.832A>C (p.Ile278Leu) c.61-5915A>C (n.61-5915A>C) c.442-5915A>C (n.442-5915A>C) | |
2 | g.233761119A>G | CA351068649 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5915A>G (n.856-5915A>G) c.868-5915A>G (n.868-5915A>G) c.862-5915A>G (n.862-5915A>G) c.832A>G (p.Ile278Val) c.61-5915A>G (n.61-5915A>G) c.442-5915A>G (n.442-5915A>G) | |
2 | g.233761119A>T | CA351068647 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5915A>T (n.856-5915A>T) c.868-5915A>T (n.868-5915A>T) c.862-5915A>T (n.862-5915A>T) c.832A>T (p.Ile278Phe) c.61-5915A>T (n.61-5915A>T) c.442-5915A>T (n.442-5915A>T) | gnomAD v4 |
2 | g.233761120T>A | CA351068653 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5914T>A (n.856-5914T>A) c.868-5914T>A (n.868-5914T>A) c.862-5914T>A (n.862-5914T>A) c.833T>A (p.Ile278Asn) c.61-5914T>A (n.61-5914T>A) c.442-5914T>A (n.442-5914T>A) | |
2 | g.233761120T>C | CA351068657 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5914T>C (n.856-5914T>C) c.868-5914T>C (n.868-5914T>C) c.862-5914T>C (n.862-5914T>C) c.833T>C (p.Ile278Thr) c.61-5914T>C (n.61-5914T>C) c.442-5914T>C (n.442-5914T>C) | |
2 | g.233761120T>G | CA351068656 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5914T>G (n.856-5914T>G) c.868-5914T>G (n.868-5914T>G) c.862-5914T>G (n.862-5914T>G) c.833T>G (p.Ile278Ser) c.61-5914T>G (n.61-5914T>G) c.442-5914T>G (n.442-5914T>G) | dbSNP gnomAD v2 |
2 | g.233761120T= | CA1335889970 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5914T= (n.856-5914T=) c.868-5914T= (n.868-5914T=) c.862-5914T= (n.862-5914T=) c.833T= (p.Ile278=) c.61-5914T= (n.61-5914T=) c.442-5914T= (n.442-5914T=) | |
2 | g.233761121C>A | CA431960929 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5913C>A (n.856-5913C>A) c.868-5913C>A (n.868-5913C>A) c.862-5913C>A (n.862-5913C>A) c.834C>A (p.Ile278=) c.61-5913C>A (n.61-5913C>A) c.442-5913C>A (n.442-5913C>A) | |
2 | g.233761121C= | CA1335889973 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5913C= (n.856-5913C=) c.868-5913C= (n.868-5913C=) c.862-5913C= (n.862-5913C=) c.834C= (p.Ile278=) c.61-5913C= (n.61-5913C=) c.442-5913C= (n.442-5913C=) | |
2 | g.233761121C>G | CA351068659 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5913C>G (n.856-5913C>G) c.868-5913C>G (n.868-5913C>G) c.862-5913C>G (n.862-5913C>G) c.834C>G (p.Ile278Met) c.61-5913C>G (n.61-5913C>G) c.442-5913C>G (n.442-5913C>G) | |
2 | g.233761121C>T | CA431960930 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5913C>T (n.856-5913C>T) c.868-5913C>T (n.868-5913C>T) c.862-5913C>T (n.862-5913C>T) c.834C>T (p.Ile278=) c.61-5913C>T (n.61-5913C>T) c.442-5913C>T (n.442-5913C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761122A= | CA1335889976 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5912A= (n.856-5912A=) c.868-5912A= (n.868-5912A=) c.862-5912A= (n.862-5912A=) c.835A= (p.Asn279=) c.61-5912A= (n.61-5912A=) c.442-5912A= (n.442-5912A=) | |
2 | g.233761122A>C | CA351068662 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5912A>C (n.856-5912A>C) c.868-5912A>C (n.868-5912A>C) c.862-5912A>C (n.862-5912A>C) c.835A>C (p.Asn279His) c.61-5912A>C (n.61-5912A>C) c.442-5912A>C (n.442-5912A>C) | |
2 | g.233761122A>G | CA351068661 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5912A>G (n.856-5912A>G) c.868-5912A>G (n.868-5912A>G) c.862-5912A>G (n.862-5912A>G) c.835A>G (p.Asn279Asp) c.61-5912A>G (n.61-5912A>G) c.442-5912A>G (n.442-5912A>G) | |
2 | g.233761122A>T | CA2179896 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5912A>T (n.856-5912A>T) c.868-5912A>T (n.868-5912A>T) c.862-5912A>T (n.862-5912A>T) c.835A>T (p.Asn279Tyr) c.61-5912A>T (n.61-5912A>T) c.442-5912A>T (n.442-5912A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761123A>C | CA351068666 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5911A>C (n.856-5911A>C) c.868-5911A>C (n.868-5911A>C) c.862-5911A>C (n.862-5911A>C) c.836A>C (p.Asn279Thr) c.61-5911A>C (n.61-5911A>C) c.442-5911A>C (n.442-5911A>C) | |
2 | g.233761123A>G | CA351068669 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5911A>G (n.856-5911A>G) c.868-5911A>G (n.868-5911A>G) c.862-5911A>G (n.862-5911A>G) c.836A>G (p.Asn279Ser) c.61-5911A>G (n.61-5911A>G) c.442-5911A>G (n.442-5911A>G) | |
2 | g.233761123A>T | CA351068667 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5911A>T (n.856-5911A>T) c.868-5911A>T (n.868-5911A>T) c.862-5911A>T (n.862-5911A>T) c.836A>T (p.Asn279Ile) c.61-5911A>T (n.61-5911A>T) c.442-5911A>T (n.442-5911A>T) | |
2 | g.233761124C>A | CA351068670 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5910C>A (n.856-5910C>A) c.868-5910C>A (n.868-5910C>A) c.862-5910C>A (n.862-5910C>A) c.837C>A (p.Asn279Lys) c.61-5910C>A (n.61-5910C>A) c.442-5910C>A (n.442-5910C>A) | |
2 | g.233761124C= | CA1335889982 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5910C= (n.856-5910C=) c.868-5910C= (n.868-5910C=) c.862-5910C= (n.862-5910C=) c.837C= (p.Asn279=) c.61-5910C= (n.61-5910C=) c.442-5910C= (n.442-5910C=) | |
2 | g.233761124C>G | CA351068671 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5910C>G (n.856-5910C>G) c.868-5910C>G (n.868-5910C>G) c.862-5910C>G (n.862-5910C>G) c.837C>G (p.Asn279Lys) c.61-5910C>G (n.61-5910C>G) c.442-5910C>G (n.442-5910C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761124C>T | CA431960934 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5910C>T (n.856-5910C>T) c.868-5910C>T (n.868-5910C>T) c.862-5910C>T (n.862-5910C>T) c.837C>T (p.Asn279=) c.61-5910C>T (n.61-5910C>T) c.442-5910C>T (n.442-5910C>T) | gnomAD v4 |
2 | g.233761125T>A | CA351068672 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5909T>A (n.856-5909T>A) c.868-5909T>A (n.868-5909T>A) c.862-5909T>A (n.862-5909T>A) c.838T>A (p.Cys280Ser) c.61-5909T>A (n.61-5909T>A) c.442-5909T>A (n.442-5909T>A) | |
2 | g.233761125T>C | CA351068673 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5909T>C (n.856-5909T>C) c.868-5909T>C (n.868-5909T>C) c.862-5909T>C (n.862-5909T>C) c.838T>C (p.Cys280Arg) c.61-5909T>C (n.61-5909T>C) c.442-5909T>C (n.442-5909T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761125T>G | CA2179897 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5909T>G (n.856-5909T>G) c.868-5909T>G (n.868-5909T>G) c.862-5909T>G (n.862-5909T>G) c.838T>G (p.Cys280Gly) c.61-5909T>G (n.61-5909T>G) c.442-5909T>G (n.442-5909T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761125T= | CA1335889988 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5909T= (n.856-5909T=) c.868-5909T= (n.868-5909T=) c.862-5909T= (n.862-5909T=) c.838T= (p.Cys280=) c.61-5909T= (n.61-5909T=) c.442-5909T= (n.442-5909T=) | |
2 | g.233761126G>A | CA351068676 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5908G>A (n.856-5908G>A) c.868-5908G>A (n.868-5908G>A) c.862-5908G>A (n.862-5908G>A) c.839G>A (p.Cys280Tyr) c.61-5908G>A (n.61-5908G>A) c.442-5908G>A (n.442-5908G>A) | |
2 | g.233761126G>C | CA351068679 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5908G>C (n.856-5908G>C) c.868-5908G>C (n.868-5908G>C) c.862-5908G>C (n.862-5908G>C) c.839G>C (p.Cys280Ser) c.61-5908G>C (n.61-5908G>C) c.442-5908G>C (n.442-5908G>C) | |
2 | g.233761126G>T | CA351068680 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5908G>T (n.856-5908G>T) c.868-5908G>T (n.868-5908G>T) c.862-5908G>T (n.862-5908G>T) c.839G>T (p.Cys280Phe) c.61-5908G>T (n.61-5908G>T) c.442-5908G>T (n.442-5908G>T) | |
2 | g.233761127C>A | CA122065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C>A (n.856-5907C>A) c.868-5907C>A (n.868-5907C>A) c.862-5907C>A (n.862-5907C>A) c.840C>A (p.Cys280Ter) c.61-5907C>A (n.61-5907C>A) c.442-5907C>A (n.442-5907C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.233761127C= | CA1335889993 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C= (n.856-5907C=) c.868-5907C= (n.868-5907C=) c.862-5907C= (n.862-5907C=) c.840C= (p.Cys280=) c.61-5907C= (n.61-5907C=) c.442-5907C= (n.442-5907C=) | |
2 | g.233761127C>G | CA67590557 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C>G (n.856-5907C>G) c.868-5907C>G (n.868-5907C>G) c.862-5907C>G (n.862-5907C>G) c.840C>G (p.Cys280Trp) c.61-5907C>G (n.61-5907C>G) c.442-5907C>G (n.442-5907C>G) | dbSNP |
2 | g.233761127C>T | CA431960935 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5907C>T (n.856-5907C>T) c.868-5907C>T (n.868-5907C>T) c.862-5907C>T (n.862-5907C>T) c.840C>T (p.Cys280=) c.61-5907C>T (n.61-5907C>T) c.442-5907C>T (n.442-5907C>T) | |
2 | g.233761128C>A | CA351068695 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5906C>A (n.856-5906C>A) c.868-5906C>A (n.868-5906C>A) c.862-5906C>A (n.862-5906C>A) c.841C>A (p.Leu281Ile) c.61-5906C>A (n.61-5906C>A) c.442-5906C>A (n.442-5906C>A) | |
2 | g.233761128C>G | CA351068692 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5906C>G (n.856-5906C>G) c.868-5906C>G (n.868-5906C>G) c.862-5906C>G (n.862-5906C>G) c.841C>G (p.Leu281Val) c.61-5906C>G (n.61-5906C>G) c.442-5906C>G (n.442-5906C>G) | |
2 | g.233761128C>T | CA351068689 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5906C>T (n.856-5906C>T) c.868-5906C>T (n.868-5906C>T) c.862-5906C>T (n.862-5906C>T) c.841C>T (p.Leu281Phe) c.61-5906C>T (n.61-5906C>T) c.442-5906C>T (n.442-5906C>T) | gnomAD v4 |
2 | g.233761129T>A | CA351068699 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5905T>A (n.856-5905T>A) c.868-5905T>A (n.868-5905T>A) c.862-5905T>A (n.862-5905T>A) c.842T>A (p.Leu281His) c.61-5905T>A (n.61-5905T>A) c.442-5905T>A (n.442-5905T>A) | |
2 | g.233761129T>C | CA351068700 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5905T>C (n.856-5905T>C) c.868-5905T>C (n.868-5905T>C) c.862-5905T>C (n.862-5905T>C) c.842T>C (p.Leu281Pro) c.61-5905T>C (n.61-5905T>C) c.442-5905T>C (n.442-5905T>C) | |
2 | g.233761129T>G | CA351068706 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5905T>G (n.856-5905T>G) c.868-5905T>G (n.868-5905T>G) c.862-5905T>G (n.862-5905T>G) c.842T>G (p.Leu281Arg) c.61-5905T>G (n.61-5905T>G) c.442-5905T>G (n.442-5905T>G) | |
2 | g.233761130T>A | CA431960940 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5904T>A (n.856-5904T>A) c.868-5904T>A (n.868-5904T>A) c.862-5904T>A (n.862-5904T>A) c.843T>A (p.Leu281=) c.61-5904T>A (n.61-5904T>A) c.442-5904T>A (n.442-5904T>A) | |
2 | g.233761130T>C | CA431960941 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5904T>C (n.856-5904T>C) c.868-5904T>C (n.868-5904T>C) c.862-5904T>C (n.862-5904T>C) c.843T>C (p.Leu281=) c.61-5904T>C (n.61-5904T>C) c.442-5904T>C (n.442-5904T>C) | |
2 | g.233761130T>G | CA431960939 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5904T>G (n.856-5904T>G) c.868-5904T>G (n.868-5904T>G) c.862-5904T>G (n.862-5904T>G) c.843T>G (p.Leu281=) c.61-5904T>G (n.61-5904T>G) c.442-5904T>G (n.442-5904T>G) | |
2 | g.233761131del | CA2663717743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5903del (n.856-5903del) c.868-5903del (n.868-5903del) c.862-5903del (n.862-5903del) c.844del (p.His282ThrfsTer?) c.61-5903del (n.61-5903del) c.442-5903del (n.442-5903del) | gnomAD v4 |
2 | g.233761131C>A | CA351068707 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5903C>A (n.856-5903C>A) c.868-5903C>A (n.868-5903C>A) c.862-5903C>A (n.862-5903C>A) c.844C>A (p.His282Asn) c.61-5903C>A (n.61-5903C>A) c.442-5903C>A (n.442-5903C>A) | |
2 | g.233761131C>G | CA351068708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5903C>G (n.856-5903C>G) c.868-5903C>G (n.868-5903C>G) c.862-5903C>G (n.862-5903C>G) c.844C>G (p.His282Asp) c.61-5903C>G (n.61-5903C>G) c.442-5903C>G (n.442-5903C>G) | |
2 | g.233761131C>T | CA351068711 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5903C>T (n.856-5903C>T) c.868-5903C>T (n.868-5903C>T) c.862-5903C>T (n.862-5903C>T) c.844C>T (p.His282Tyr) c.61-5903C>T (n.61-5903C>T) c.442-5903C>T (n.442-5903C>T) | |
2 | g.233761132A>C | CA351068712 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5902A>C (n.856-5902A>C) c.868-5902A>C (n.868-5902A>C) c.862-5902A>C (n.862-5902A>C) c.845A>C (p.His282Pro) c.61-5902A>C (n.61-5902A>C) c.442-5902A>C (n.442-5902A>C) | |
2 | g.233761132A>G | CA351068713 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5902A>G (n.856-5902A>G) c.868-5902A>G (n.868-5902A>G) c.862-5902A>G (n.862-5902A>G) c.845A>G (p.His282Arg) c.61-5902A>G (n.61-5902A>G) c.442-5902A>G (n.442-5902A>G) | |
2 | g.233761132A>T | CA351068715 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5902A>T (n.856-5902A>T) c.868-5902A>T (n.868-5902A>T) c.862-5902A>T (n.862-5902A>T) c.845A>T (p.His282Leu) c.61-5902A>T (n.61-5902A>T) c.442-5902A>T (n.442-5902A>T) | |
2 | g.233761133C>A | CA351068719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5901C>A (n.856-5901C>A) c.868-5901C>A (n.868-5901C>A) c.862-5901C>A (n.862-5901C>A) c.846C>A (p.His282Gln) c.61-5901C>A (n.61-5901C>A) c.442-5901C>A (n.442-5901C>A) | |
2 | g.233761133C>G | CA351068720 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5901C>G (n.856-5901C>G) c.868-5901C>G (n.868-5901C>G) c.862-5901C>G (n.862-5901C>G) c.846C>G (p.His282Gln) c.61-5901C>G (n.61-5901C>G) c.442-5901C>G (n.442-5901C>G) | |
2 | g.233761133C>T | CA431960943 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5901C>T (n.856-5901C>T) c.868-5901C>T (n.868-5901C>T) c.862-5901C>T (n.862-5901C>T) c.846C>T (p.His282=) c.61-5901C>T (n.61-5901C>T) c.442-5901C>T (n.442-5901C>T) | |
2 | g.233761134C>A | CA351068724 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5900C>A (n.856-5900C>A) c.868-5900C>A (n.868-5900C>A) c.862-5900C>A (n.862-5900C>A) c.847C>A (p.Gln283Lys) c.61-5900C>A (n.61-5900C>A) c.442-5900C>A (n.442-5900C>A) | |
2 | g.233761134C= | CA1335889997 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5900C= (n.856-5900C=) c.868-5900C= (n.868-5900C=) c.862-5900C= (n.862-5900C=) c.847C= (p.Gln283=) c.61-5900C= (n.61-5900C=) c.442-5900C= (n.442-5900C=) | |
2 | g.233761134C>G | CA351068725 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5900C>G (n.856-5900C>G) c.868-5900C>G (n.868-5900C>G) c.862-5900C>G (n.862-5900C>G) c.847C>G (p.Gln283Glu) c.61-5900C>G (n.61-5900C>G) c.442-5900C>G (n.442-5900C>G) | |
2 | g.233761134C>T | CA351068722 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5900C>T (n.856-5900C>T) c.868-5900C>T (n.868-5900C>T) c.862-5900C>T (n.862-5900C>T) c.847C>T (p.Gln283Ter) c.61-5900C>T (n.61-5900C>T) c.442-5900C>T (n.442-5900C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761135A= | CA1335890000 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5899A= (n.856-5899A=) c.868-5899A= (n.868-5899A=) c.862-5899A= (n.862-5899A=) c.848A= (p.Gln283=) c.61-5899A= (n.61-5899A=) c.442-5899A= (n.442-5899A=) | |
2 | g.233761135A>C | CA351068728 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5899A>C (n.856-5899A>C) c.868-5899A>C (n.868-5899A>C) c.862-5899A>C (n.862-5899A>C) c.848A>C (p.Gln283Pro) c.61-5899A>C (n.61-5899A>C) c.442-5899A>C (n.442-5899A>C) | |
2 | g.233761135A>G | CA2179898 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5899A>G (n.856-5899A>G) c.868-5899A>G (n.868-5899A>G) c.862-5899A>G (n.862-5899A>G) c.848A>G (p.Gln283Arg) c.61-5899A>G (n.61-5899A>G) c.442-5899A>G (n.442-5899A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761135A>T | CA351068732 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5899A>T (n.856-5899A>T) c.868-5899A>T (n.868-5899A>T) c.862-5899A>T (n.862-5899A>T) c.848A>T (p.Gln283Leu) c.61-5899A>T (n.61-5899A>T) c.442-5899A>T (n.442-5899A>T) | |
2 | g.233761136A= | CA1335890003 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5898A= (n.856-5898A=) c.868-5898A= (n.868-5898A=) c.862-5898A= (n.862-5898A=) c.849A= (p.Gln283=) c.61-5898A= (n.61-5898A=) c.442-5898A= (n.442-5898A=) | |
2 | g.233761136A>C | CA351068735 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5898A>C (n.856-5898A>C) c.868-5898A>C (n.868-5898A>C) c.862-5898A>C (n.862-5898A>C) c.849A>C (p.Gln283His) c.61-5898A>C (n.61-5898A>C) c.442-5898A>C (n.442-5898A>C) | |
2 | g.233761136A>G | CA2179899 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5898A>G (n.856-5898A>G) c.868-5898A>G (n.868-5898A>G) c.862-5898A>G (n.862-5898A>G) c.849A>G (p.Gln283=) c.61-5898A>G (n.61-5898A>G) c.442-5898A>G (n.442-5898A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761136A>T | CA351068737 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5898A>T (n.856-5898A>T) c.868-5898A>T (n.868-5898A>T) c.862-5898A>T (n.862-5898A>T) c.849A>T (p.Gln283His) c.61-5898A>T (n.61-5898A>T) c.442-5898A>T (n.442-5898A>T) | |
2 | g.233761137A>C | CA351068741 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5897A>C (n.856-5897A>C) c.868-5897A>C (n.868-5897A>C) c.862-5897A>C (n.862-5897A>C) c.850A>C (p.Asn284His) c.61-5897A>C (n.61-5897A>C) c.442-5897A>C (n.442-5897A>C) | |
2 | g.233761137A>G | CA351068738 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5897A>G (n.856-5897A>G) c.868-5897A>G (n.868-5897A>G) c.862-5897A>G (n.862-5897A>G) c.850A>G (p.Asn284Asp) c.61-5897A>G (n.61-5897A>G) c.442-5897A>G (n.442-5897A>G) | |
2 | g.233761137A>T | CA351068739 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5897A>T (n.856-5897A>T) c.868-5897A>T (n.868-5897A>T) c.862-5897A>T (n.862-5897A>T) c.850A>T (p.Asn284Tyr) c.61-5897A>T (n.61-5897A>T) c.442-5897A>T (n.442-5897A>T) | gnomAD v4 |
2 | g.233761137_233761138insCACACCCAACAC | CA2754693304 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5897_856-5896insCACACCCAACAC (n.856-5897_856-5896insCACACCCAACAC) c.868-5897_868-5896insCACACCCAACAC (n.868-5897_868-5896insCACACCCAACAC) c.862-5897_862-5896insCACACCCAACAC (n.862-5897_862-5896insCACACCCAACAC) c.850_851insCACACCCAACAC (p.Asn284delinsThrHisProThrHis) c.61-5897_61-5896insCACACCCAACAC (n.61-5897_61-5896insCACACCCAACAC) c.442-5897_442-5896insCACACCCAACAC (n.442-5897_442-5896insCACACCCAACAC) | |
2 | g.233761138A= | CA1335890007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5896A= (n.856-5896A=) c.868-5896A= (n.868-5896A=) c.862-5896A= (n.862-5896A=) c.851A= (p.Asn284=) c.61-5896A= (n.61-5896A=) c.442-5896A= (n.442-5896A=) | |
2 | g.233761138A>C | CA351068743 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5896A>C (n.856-5896A>C) c.868-5896A>C (n.868-5896A>C) c.862-5896A>C (n.862-5896A>C) c.851A>C (p.Asn284Thr) c.61-5896A>C (n.61-5896A>C) c.442-5896A>C (n.442-5896A>C) | |
2 | g.233761138A>G | CA351068744 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5896A>G (n.856-5896A>G) c.868-5896A>G (n.868-5896A>G) c.862-5896A>G (n.862-5896A>G) c.851A>G (p.Asn284Ser) c.61-5896A>G (n.61-5896A>G) c.442-5896A>G (n.442-5896A>G) | dbSNP gnomAD v4 |
2 | g.233761138A>T | CA351068746 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5896A>T (n.856-5896A>T) c.868-5896A>T (n.868-5896A>T) c.862-5896A>T (n.862-5896A>T) c.851A>T (p.Asn284Ile) c.61-5896A>T (n.61-5896A>T) c.442-5896A>T (n.442-5896A>T) | |
2 | g.233761139T>A | CA351068749 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5895T>A (n.856-5895T>A) c.868-5895T>A (n.868-5895T>A) c.862-5895T>A (n.862-5895T>A) c.852T>A (p.Asn284Lys) c.61-5895T>A (n.61-5895T>A) c.442-5895T>A (n.442-5895T>A) | |
2 | g.233761139T>C | CA431960946 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5895T>C (n.856-5895T>C) c.868-5895T>C (n.868-5895T>C) c.862-5895T>C (n.862-5895T>C) c.852T>C (p.Asn284=) c.61-5895T>C (n.61-5895T>C) c.442-5895T>C (n.442-5895T>C) | |
2 | g.233761139T>G | CA351068752 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5895T>G (n.856-5895T>G) c.868-5895T>G (n.868-5895T>G) c.862-5895T>G (n.862-5895T>G) c.852T>G (p.Asn284Lys) c.61-5895T>G (n.61-5895T>G) c.442-5895T>G (n.442-5895T>G) | |
2 | g.233761140C>A | CA351068756 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5894C>A (n.856-5894C>A) c.868-5894C>A (n.868-5894C>A) c.862-5894C>A (n.862-5894C>A) c.853C>A (p.Pro285Thr) c.61-5894C>A (n.61-5894C>A) c.442-5894C>A (n.442-5894C>A) | |
2 | g.233761140C>G | CA351068762 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5894C>G (n.856-5894C>G) c.868-5894C>G (n.868-5894C>G) c.862-5894C>G (n.862-5894C>G) c.853C>G (p.Pro285Ala) c.61-5894C>G (n.61-5894C>G) c.442-5894C>G (n.442-5894C>G) | |
2 | g.233761140C>T | CA351068759 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5894C>T (n.856-5894C>T) c.868-5894C>T (n.868-5894C>T) c.862-5894C>T (n.862-5894C>T) c.853C>T (p.Pro285Ser) c.61-5894C>T (n.61-5894C>T) c.442-5894C>T (n.442-5894C>T) | COSMIC |
2 | g.233761141C>A | CA351068764 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5893C>A (n.856-5893C>A) c.868-5893C>A (n.868-5893C>A) c.862-5893C>A (n.862-5893C>A) c.854C>A (p.Pro285Gln) c.61-5893C>A (n.61-5893C>A) c.442-5893C>A (n.442-5893C>A) | |
2 | g.233761141C>G | CA351068766 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5893C>G (n.856-5893C>G) c.868-5893C>G (n.868-5893C>G) c.862-5893C>G (n.862-5893C>G) c.854C>G (p.Pro285Arg) c.61-5893C>G (n.61-5893C>G) c.442-5893C>G (n.442-5893C>G) | |
2 | g.233761141C>T | CA351068770 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5893C>T (n.856-5893C>T) c.868-5893C>T (n.868-5893C>T) c.862-5893C>T (n.862-5893C>T) c.854C>T (p.Pro285Leu) c.61-5893C>T (n.61-5893C>T) c.442-5893C>T (n.442-5893C>T) | |
2 | g.233761142A>C | CA431960950 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5892A>C (n.856-5892A>C) c.868-5892A>C (n.868-5892A>C) c.862-5892A>C (n.862-5892A>C) c.855A>C (p.Pro285=) c.61-5892A>C (n.61-5892A>C) c.442-5892A>C (n.442-5892A>C) | |
2 | g.233761142A>G | CA431960947 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5892A>G (n.856-5892A>G) c.868-5892A>G (n.868-5892A>G) c.862-5892A>G (n.862-5892A>G) c.855A>G (p.Pro285=) c.61-5892A>G (n.61-5892A>G) c.442-5892A>G (n.442-5892A>G) | gnomAD v4 |
2 | g.233761142A>T | CA431960948 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5892A>T (n.856-5892A>T) c.868-5892A>T (n.868-5892A>T) c.862-5892A>T (n.862-5892A>T) c.855A>T (p.Pro285=) c.61-5892A>T (n.61-5892A>T) c.442-5892A>T (n.442-5892A>T) | |
2 | g.233761142_233761143insAACACAC | CA2754693305 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5892_856-5891insAACACAC (n.856-5892_856-5891insAACACAC) c.868-5892_868-5891insAACACAC (n.868-5892_868-5891insAACACAC) c.862-5892_862-5891insAACACAC (n.862-5892_862-5891insAACACAC) c.855_856insAACACAC (p.Leu286AsnfsTer8) c.61-5892_61-5891insAACACAC (n.61-5892_61-5891insAACACAC) c.442-5892_442-5891insAACACAC (n.442-5892_442-5891insAACACAC) | |
2 | g.233761143C>A | CA351068773 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5891C>A (n.856-5891C>A) c.868-5891C>A (n.868-5891C>A) c.862-5891C>A (n.862-5891C>A) c.856C>A (p.Leu286Ile) c.61-5891C>A (n.61-5891C>A) c.442-5891C>A (n.442-5891C>A) | |
2 | g.233761143C>G | CA351068775 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5891C>G (n.856-5891C>G) c.868-5891C>G (n.868-5891C>G) c.862-5891C>G (n.862-5891C>G) c.856C>G (p.Leu286Val) c.61-5891C>G (n.61-5891C>G) c.442-5891C>G (n.442-5891C>G) | |
2 | g.233761143C>T | CA431960953 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5891C>T (n.856-5891C>T) c.868-5891C>T (n.868-5891C>T) c.862-5891C>T (n.862-5891C>T) c.856C>T (p.Leu286=) c.61-5891C>T (n.61-5891C>T) c.442-5891C>T (n.442-5891C>T) | gnomAD v4 |
2 | g.233761144T>A | CA351068778 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5890T>A (n.856-5890T>A) c.868-5890T>A (n.868-5890T>A) c.862-5890T>A (n.862-5890T>A) c.857T>A (p.Leu286Gln) c.61-5890T>A (n.61-5890T>A) c.442-5890T>A (n.442-5890T>A) | gnomAD v4 |
2 | g.233761144T>C | CA351068781 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5890T>C (n.856-5890T>C) c.868-5890T>C (n.868-5890T>C) c.862-5890T>C (n.862-5890T>C) c.857T>C (p.Leu286Pro) c.61-5890T>C (n.61-5890T>C) c.442-5890T>C (n.442-5890T>C) | |
2 | g.233761144T>G | CA351068782 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5890T>G (n.856-5890T>G) c.868-5890T>G (n.868-5890T>G) c.862-5890T>G (n.862-5890T>G) c.857T>G (p.Leu286Arg) c.61-5890T>G (n.61-5890T>G) c.442-5890T>G (n.442-5890T>G) | |
2 | g.233761145A>C | CA431960955 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5889A>C (n.856-5889A>C) c.868-5889A>C (n.868-5889A>C) c.862-5889A>C (n.862-5889A>C) c.858A>C (p.Leu286=) c.61-5889A>C (n.61-5889A>C) c.442-5889A>C (n.442-5889A>C) | |
2 | g.233761145A>G | CA431960954 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5889A>G (n.856-5889A>G) c.868-5889A>G (n.868-5889A>G) c.862-5889A>G (n.862-5889A>G) c.858A>G (p.Leu286=) c.61-5889A>G (n.61-5889A>G) c.442-5889A>G (n.442-5889A>G) | |
2 | g.233761145A>T | CA431960956 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5889A>T (n.856-5889A>T) c.868-5889A>T (n.868-5889A>T) c.862-5889A>T (n.862-5889A>T) c.858A>T (p.Leu286=) c.61-5889A>T (n.61-5889A>T) c.442-5889A>T (n.442-5889A>T) | gnomAD v4 |
2 | g.233761146T>A | CA351068786 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5888T>A (n.856-5888T>A) c.868-5888T>A (n.868-5888T>A) c.862-5888T>A (n.862-5888T>A) c.859T>A (p.Ser287Thr) c.61-5888T>A (n.61-5888T>A) c.442-5888T>A (n.442-5888T>A) | gnomAD v4 |
2 | g.233761146T>C | CA351068789 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5888T>C (n.856-5888T>C) c.868-5888T>C (n.868-5888T>C) c.862-5888T>C (n.862-5888T>C) c.859T>C (p.Ser287Pro) c.61-5888T>C (n.61-5888T>C) c.442-5888T>C (n.442-5888T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761146T>G | CA351068791 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5888T>G (n.856-5888T>G) c.868-5888T>G (n.868-5888T>G) c.862-5888T>G (n.862-5888T>G) c.859T>G (p.Ser287Ala) c.61-5888T>G (n.61-5888T>G) c.442-5888T>G (n.442-5888T>G) | |
2 | g.233761146T= | CA1335890009 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5888T= (n.856-5888T=) c.868-5888T= (n.868-5888T=) c.862-5888T= (n.862-5888T=) c.859T= (p.Ser287=) c.61-5888T= (n.61-5888T=) c.442-5888T= (n.442-5888T=) | |
2 | g.233761147C>A | CA351068801 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5887C>A (n.856-5887C>A) c.868-5887C>A (n.868-5887C>A) c.862-5887C>A (n.862-5887C>A) c.860C>A (p.Ser287Tyr) c.61-5887C>A (n.61-5887C>A) c.442-5887C>A (n.442-5887C>A) | gnomAD v4 |
2 | g.233761147C= | CA1335890011 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5887C= (n.856-5887C=) c.868-5887C= (n.868-5887C=) c.862-5887C= (n.862-5887C=) c.860C= (p.Ser287=) c.61-5887C= (n.61-5887C=) c.442-5887C= (n.442-5887C=) | |
2 | g.233761147C>G | CA351068798 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5887C>G (n.856-5887C>G) c.868-5887C>G (n.868-5887C>G) c.862-5887C>G (n.862-5887C>G) c.860C>G (p.Ser287Cys) c.61-5887C>G (n.61-5887C>G) c.442-5887C>G (n.442-5887C>G) | |
2 | g.233761147C>T | CA351068795 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5887C>T (n.856-5887C>T) c.868-5887C>T (n.868-5887C>T) c.862-5887C>T (n.862-5887C>T) c.860C>T (p.Ser287Phe) c.61-5887C>T (n.61-5887C>T) c.442-5887C>T (n.442-5887C>T) | dbSNP gnomAD v4 |
2 | g.233761148C>A | CA431960960 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5886C>A (n.856-5886C>A) c.868-5886C>A (n.868-5886C>A) c.862-5886C>A (n.862-5886C>A) c.861C>A (p.Ser287=) c.61-5886C>A (n.61-5886C>A) c.442-5886C>A (n.442-5886C>A) | |
2 | g.233761148C>G | CA431960961 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5886C>G (n.856-5886C>G) c.868-5886C>G (n.868-5886C>G) c.862-5886C>G (n.862-5886C>G) c.861C>G (p.Ser287=) c.61-5886C>G (n.61-5886C>G) c.442-5886C>G (n.442-5886C>G) | gnomAD v4 |
2 | g.233761148C>T | CA431960962 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5886C>T (n.856-5886C>T) c.868-5886C>T (n.868-5886C>T) c.862-5886C>T (n.862-5886C>T) c.861C>T (p.Ser287=) c.61-5886C>T (n.61-5886C>T) c.442-5886C>T (n.442-5886C>T) | gnomAD v4 COSMIC |
2 | g.233761149C>A | CA351068804 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5885C>A (n.856-5885C>A) c.868-5885C>A (n.868-5885C>A) c.862-5885C>A (n.862-5885C>A) c.862C>A (p.Gln288Lys) c.61-5885C>A (n.61-5885C>A) c.442-5885C>A (n.442-5885C>A) | dbSNP gnomAD v4 |
2 | g.233761149C= | CA1335890013 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5885C= (n.856-5885C=) c.868-5885C= (n.868-5885C=) c.862-5885C= (n.862-5885C=) c.862C= (p.Gln288=) c.61-5885C= (n.61-5885C=) c.442-5885C= (n.442-5885C=) | |
2 | g.233761149C>G | CA351068810 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5885C>G (n.856-5885C>G) c.868-5885C>G (n.868-5885C>G) c.862-5885C>G (n.862-5885C>G) c.862C>G (p.Gln288Glu) c.61-5885C>G (n.61-5885C>G) c.442-5885C>G (n.442-5885C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761149C>T | CA351068807 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5885C>T (n.856-5885C>T) c.868-5885C>T (n.868-5885C>T) c.862-5885C>T (n.862-5885C>T) c.862C>T (p.Gln288Ter) c.61-5885C>T (n.61-5885C>T) c.442-5885C>T (n.442-5885C>T) | |
2 | g.233761150A= | CA1335890016 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5884A= (n.856-5884A=) c.868-5884A= (n.868-5884A=) c.862-5884A= (n.862-5884A=) c.863A= (p.Gln288=) c.61-5884A= (n.61-5884A=) c.442-5884A= (n.442-5884A=) | |
2 | g.233761150A>C | CA351068814 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5884A>C (n.856-5884A>C) c.868-5884A>C (n.868-5884A>C) c.862-5884A>C (n.862-5884A>C) c.863A>C (p.Gln288Pro) c.61-5884A>C (n.61-5884A>C) c.442-5884A>C (n.442-5884A>C) | |
2 | g.233761150A>G | CA351068817 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5884A>G (n.856-5884A>G) c.868-5884A>G (n.868-5884A>G) c.862-5884A>G (n.862-5884A>G) c.863A>G (p.Gln288Arg) c.61-5884A>G (n.61-5884A>G) c.442-5884A>G (n.442-5884A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761150A>T | CA351068820 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5884A>T (n.856-5884A>T) c.868-5884A>T (n.868-5884A>T) c.862-5884A>T (n.862-5884A>T) c.863A>T (p.Gln288Leu) c.61-5884A>T (n.61-5884A>T) c.442-5884A>T (n.442-5884A>T) | |
2 | g.233761151G>A | CA2179900 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5883G>A (n.856-5883G>A) c.868-5883G>A (n.868-5883G>A) c.862-5883G>A (n.862-5883G>A) c.864G>A (p.Gln288=) c.61-5883G>A (n.61-5883G>A) c.442-5883G>A (n.442-5883G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761151G>C | CA351068827 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5883G>C (n.856-5883G>C) c.868-5883G>C (n.868-5883G>C) c.862-5883G>C (n.862-5883G>C) c.864G>C (p.Gln288His) c.61-5883G>C (n.61-5883G>C) c.442-5883G>C (n.442-5883G>C) | |
2 | g.233761151G= | CA1335890018 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5883G= (n.856-5883G=) c.868-5883G= (n.868-5883G=) c.862-5883G= (n.862-5883G=) c.864G= (p.Gln288=) c.61-5883G= (n.61-5883G=) c.442-5883G= (n.442-5883G=) | |
2 | g.233761151G>T | CA351068828 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5883G>T (n.856-5883G>T) c.868-5883G>T (n.868-5883G>T) c.862-5883G>T (n.862-5883G>T) c.864G>T (p.Gln288His) c.61-5883G>T (n.61-5883G>T) c.442-5883G>T (n.442-5883G>T) | |
2 | g.233761152G>A | CA351068830 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5882G>A (n.856-5882G>A) c.868-5882G>A (n.868-5882G>A) c.862-5882G>A (n.862-5882G>A) c.864+1G>A (n.864+1G>A) c.61-5882G>A (n.61-5882G>A) c.442-5882G>A (n.442-5882G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233761152G>C | CA122073 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5882G>C (n.856-5882G>C) c.868-5882G>C (n.868-5882G>C) c.862-5882G>C (n.862-5882G>C) c.864+1G>C (n.864+1G>C) c.61-5882G>C (n.61-5882G>C) c.442-5882G>C (n.442-5882G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761152G= | CA1335890025 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5882G= (n.856-5882G=) c.868-5882G= (n.868-5882G=) c.862-5882G= (n.862-5882G=) c.864+1G= (n.864+1G=) c.61-5882G= (n.61-5882G=) c.442-5882G= (n.442-5882G=) | |
2 | g.233761152G>T | CA351068834 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5882G>T (n.856-5882G>T) c.868-5882G>T (n.868-5882G>T) c.862-5882G>T (n.862-5882G>T) c.864+1G>T (n.864+1G>T) c.61-5882G>T (n.61-5882G>T) c.442-5882G>T (n.442-5882G>T) | |
2 | g.233761153T>A | CA351068837 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5881T>A (n.856-5881T>A) c.868-5881T>A (n.868-5881T>A) c.862-5881T>A (n.862-5881T>A) c.864+2T>A (n.864+2T>A) c.61-5881T>A (n.61-5881T>A) c.442-5881T>A (n.442-5881T>A) | |
2 | g.233761153T>C | CA2179901 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5881T>C (n.856-5881T>C) c.868-5881T>C (n.868-5881T>C) c.862-5881T>C (n.862-5881T>C) c.864+2T>C (n.864+2T>C) c.61-5881T>C (n.61-5881T>C) c.442-5881T>C (n.442-5881T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233761153T>G | CA351068842 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5881T>G (n.856-5881T>G) c.868-5881T>G (n.868-5881T>G) c.862-5881T>G (n.862-5881T>G) c.864+2T>G (n.864+2T>G) c.61-5881T>G (n.61-5881T>G) c.442-5881T>G (n.442-5881T>G) | |
2 | g.233761153T= | CA1335890028 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5881T= (n.856-5881T=) c.868-5881T= (n.868-5881T=) c.862-5881T= (n.862-5881T=) c.864+2T= (n.864+2T=) c.61-5881T= (n.61-5881T=) c.442-5881T= (n.442-5881T=) | |
2 | g.233761154G>A | CA540311610 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5880G>A (n.856-5880G>A) c.868-5880G>A (n.868-5880G>A) c.862-5880G>A (n.862-5880G>A) c.864+3G>A (n.864+3G>A) c.61-5880G>A (n.61-5880G>A) c.442-5880G>A (n.442-5880G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233761154G>C | CA2663717784 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5880G>C (n.856-5880G>C) c.868-5880G>C (n.868-5880G>C) c.862-5880G>C (n.862-5880G>C) c.864+3G>C (n.864+3G>C) c.61-5880G>C (n.61-5880G>C) c.442-5880G>C (n.442-5880G>C) | gnomAD v4 |
2 | g.233761154G= | CA1335890035 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5880G= (n.856-5880G=) c.868-5880G= (n.868-5880G=) c.862-5880G= (n.862-5880G=) c.864+3G= (n.864+3G=) c.61-5880G= (n.61-5880G=) c.442-5880G= (n.442-5880G=) | |
2 | g.233761156G>A | CA1335890038 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5878G>A (n.856-5878G>A) c.868-5878G>A (n.868-5878G>A) c.862-5878G>A (n.862-5878G>A) c.864+5G>A (n.864+5G>A) c.61-5878G>A (n.61-5878G>A) c.442-5878G>A (n.442-5878G>A) | dbSNP |
2 | g.233761156G= | CA1335890037 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5878G= (n.856-5878G=) c.868-5878G= (n.868-5878G=) c.862-5878G= (n.862-5878G=) c.864+5G= (n.864+5G=) c.61-5878G= (n.61-5878G=) c.442-5878G= (n.442-5878G=) | |
2 | g.233761156G>T | CA2179902 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5878G>T (n.856-5878G>T) c.868-5878G>T (n.868-5878G>T) c.862-5878G>T (n.862-5878G>T) c.864+5G>T (n.864+5G>T) c.61-5878G>T (n.61-5878G>T) c.442-5878G>T (n.442-5878G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233761158A>G | CA2577284384 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-5876A>G (n.856-5876A>G) c.868-5876A>G (n.868-5876A>G) c.862-5876A>G (n.862-5876A>G) c.864+7A>G (n.864+7A>G) c.61-5876A>G (n.61-5876A>G) c.442-5876A>G (n.442-5876A>G) |