Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233618437C>A | CA351073288 | UGT1A8 | c.730C>A (p.Leu244Ile) | gnomAD v4 |
2 | g.233618437C>G | CA351073294 | UGT1A8 | c.730C>G (p.Leu244Val) | |
2 | g.233618437C>T | CA351073296 | UGT1A8 | c.730C>T (p.Leu244Phe) | |
2 | g.233618438T>A | CA351073305 | UGT1A8 | c.731T>A (p.Leu244His) | |
2 | g.233618438T>C | CA351073309 | UGT1A8 | c.731T>C (p.Leu244Pro) | |
2 | g.233618438T>G | CA351073299 | UGT1A8 | c.731T>G (p.Leu244Arg) | dbSNP |
2 | g.233618438T= | CA1335825590 | UGT1A8 | c.731T= (p.Leu244=) | |
2 | g.233618439C>A | CA431957208 | UGT1A8 | c.732C>A (p.Leu244=) | |
2 | g.233618439C>G | CA431957204 | UGT1A8 | c.732C>G (p.Leu244=) | |
2 | g.233618439C>T | CA431957205 | UGT1A8 | c.732C>T (p.Leu244=) | |
2 | g.233618440T>A | CA351073313 | UGT1A8 | c.733T>A (p.Tyr245Asn) | |
2 | g.233618440T>C | CA351073315 | UGT1A8 | c.733T>C (p.Tyr245His) | |
2 | g.233618440T>G | CA351073314 | UGT1A8 | c.733T>G (p.Tyr245Asp) | gnomAD v4 |
2 | g.233618441A= | CA1335825591 | UGT1A8 | c.734A= (p.Tyr245=) | |
2 | g.233618441A>C | CA351073316 | UGT1A8 | c.734A>C (p.Tyr245Ser) | |
2 | g.233618441A>G | CA351073317 | UGT1A8 | c.734A>G (p.Tyr245Cys) | dbSNP gnomAD v4 |
2 | g.233618441A>T | CA351073322 | UGT1A8 | c.734A>T (p.Tyr245Phe) | |
2 | g.233618442C>A | CA351073336 | UGT1A8 | c.735C>A (p.Tyr245Ter) | |
2 | g.233618442C= | CA1335825592 | UGT1A8 | c.735C= (p.Tyr245=) | |
2 | g.233618442C>G | CA351073340 | UGT1A8 | c.735C>G (p.Tyr245Ter) | |
2 | g.233618442C>T | CA431957219 | UGT1A8 | c.735C>T (p.Tyr245=) | dbSNP gnomAD v4 |
2 | g.233618443A= | CA1335825593 | UGT1A8 | c.736A= (p.Ser246=) | |
2 | g.233618443A>C | CA351073359 | UGT1A8 | c.736A>C (p.Ser246Arg) | |
2 | g.233618443A>G | CA351073363 | UGT1A8 | c.736A>G (p.Ser246Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.233618443A>T | CA351073374 | UGT1A8 | c.736A>T (p.Ser246Cys) | |
2 | g.233618444G>A | CA351073378 | UGT1A8 | c.737G>A (p.Ser246Asn) | |
2 | g.233618444G>C | CA351073391 | UGT1A8 | c.737G>C (p.Ser246Thr) | |
2 | g.233618444G>T | CA351073392 | UGT1A8 | c.737G>T (p.Ser246Ile) | |
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 |