Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233618445C>A | CA67603743 | UGT1A8 | c.738C>A (p.Ser246Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233618445C= | CA1335825594 | UGT1A8 | c.738C= (p.Ser246=) | |
2 | g.233618445C>G | CA351073397 | UGT1A8 | c.738C>G (p.Ser246Arg) | |
2 | g.233618445C>T | CA431957229 | UGT1A8 | c.738C>T (p.Ser246=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233618446C>A | CA351073400 | UGT1A8 | c.739C>A (p.His247Asn) | |
2 | g.233618446C>G | CA351073410 | UGT1A8 | c.739C>G (p.His247Asp) | |
2 | g.233618446C>T | CA351073404 | UGT1A8 | c.739C>T (p.His247Tyr) | |
2 | g.233618447A>C | CA351073412 | UGT1A8 | c.740A>C (p.His247Pro) | |
2 | g.233618447A>G | CA351073415 | UGT1A8 | c.740A>G (p.His247Arg) | gnomAD v4 |
2 | g.233618447A>T | CA351073421 | UGT1A8 | c.740A>T (p.His247Leu) | |
2 | g.233618448C>A | CA351073422 | UGT1A8 | c.741C>A (p.His247Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233618448C= | CA1335825595 | UGT1A8 | c.741C= (p.His247=) | |
2 | g.233618448C>G | CA351073423 | UGT1A8 | c.741C>G (p.His247Gln) | |
2 | g.233618448C>T | CA2177620 | UGT1A8 | c.741C>T (p.His247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.233618449A>C | CA351073425 | UGT1A8 | c.742A>C (p.Thr248Pro) | |
2 | g.233618449A>G | CA351073426 | UGT1A8 | c.742A>G (p.Thr248Ala) | gnomAD v4 |
2 | g.233618449A>T | CA351073427 | UGT1A8 | c.742A>T (p.Thr248Ser) | gnomAD v4 |
2 | g.233618450C>A | CA351073439 | UGT1A8 | c.743C>A (p.Thr248Lys) | |
2 | g.233618450C>G | CA351073433 | UGT1A8 | c.743C>G (p.Thr248Arg) | |
2 | g.233618450C>T | CA351073429 | UGT1A8 | c.743C>T (p.Thr248Ile) | |
2 | g.233618450_233618451delinsCA | CA1335825596 | UGT1A8 | c.743_744delinsCA (p.Thr248=) | |
2 | g.233618451del | CA540311171 | UGT1A8 | c.744del (p.Ser249GlnfsTer17) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233618451A= | CA1335825597 | UGT1A8 | c.744A= (p.Thr248=) | |
2 | g.233618451A>C | CA431957251 | UGT1A8 | c.744A>C (p.Thr248=) | |
2 | g.233618451A>G | CA431957246 | UGT1A8 | c.744A>G (p.Thr248=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233618451A>T | CA431957250 | UGT1A8 | c.744A>T (p.Thr248=) | |
2 | g.233618452T>A | CA351073446 | UGT1A8 | c.745T>A (p.Ser249Thr) | gnomAD v4 |
2 | g.233618452T>C | CA351073448 | UGT1A8 | c.745T>C (p.Ser249Pro) | |
2 | g.233618452T>G | CA351073449 | UGT1A8 | c.745T>G (p.Ser249Ala) | |
2 | g.233618453C>A | CA351073450 | UGT1A8 | c.746C>A (p.Ser249Ter) | |
2 | g.233618453C>G | CA351073451 | UGT1A8 | c.746C>G (p.Ser249Ter) | |
2 | g.233618453C>T | CA351073452 | UGT1A8 | c.746C>T (p.Ser249Leu) | |
2 | g.233618454A= | CA1335825598 | UGT1A8 | c.747A= (p.Ser249=) | |
2 | g.233618454A>C | CA431957256 | UGT1A8 | c.747A>C (p.Ser249=) | |
2 | g.233618454A>G | CA2177621 | UGT1A8 | c.747A>G (p.Ser249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.233618454A>T | CA431957258 | UGT1A8 | c.747A>T (p.Ser249=) | |
2 | g.233618455A>C | CA351073457 | UGT1A8 | c.748A>C (p.Ile250Leu) | gnomAD v4 |
2 | g.233618455A>G | CA351073463 | UGT1A8 | c.748A>G (p.Ile250Val) | gnomAD v4 |
2 | g.233618455A>T | CA351073460 | UGT1A8 | c.748A>T (p.Ile250Phe) | |
2 | g.233618456T>A | CA351073477 | UGT1A8 | c.749T>A (p.Ile250Asn) | |
2 | g.233618456T>C | CA351073481 | UGT1A8 | c.749T>C (p.Ile250Thr) | |
2 | g.233618456T>G | CA351073484 | UGT1A8 | c.749T>G (p.Ile250Ser) | |
2 | g.233618457T>A | CA431957272 | UGT1A8 | c.750T>A (p.Ile250=) | |
2 | g.233618457T>C | CA431957275 | UGT1A8 | c.750T>C (p.Ile250=) | |
2 | g.233618457T>G | CA351073489 | UGT1A8 | c.750T>G (p.Ile250Met) | |
2 | g.233618458T>A | CA351073492 | UGT1A8 | c.751T>A (p.Trp251Arg) | |
2 | g.233618458T>C | CA351073504 | UGT1A8 | c.751T>C (p.Trp251Arg) | gnomAD v4 |
2 | g.233618458T>G | CA351073496 | UGT1A8 | c.751T>G (p.Trp251Gly) | |
2 | g.233618459G>A | CA351073510 | UGT1A8 | c.752G>A (p.Trp251Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.233618459G>C | CA351073512 | UGT1A8 | c.752G>C (p.Trp251Ser) |