Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400465_18400497delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG | CA1768218995 | NAT2 | c.462_494delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu154=) c.72_104delinsAGAGAGAGGAATCTGGTACCTGGACCAAATCAG (p.Glu24=) | |
8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
8 | g.18400484C>A | CA370635975 | NAT2 | c.481C>A (p.Leu161Met) c.91C>A (p.Leu31Met) | |
8 | g.18400484C= | CA1768219006 | NAT2 | c.481C= (p.Leu161=) c.91C= (p.Leu31=) | |
8 | g.18400484C>G | CA370635976 | NAT2 | c.481C>G (p.Leu161Val) c.91C>G (p.Leu31Val) | |
8 | g.18400484C>T | CA4651631 | NAT2 | c.481C>T (p.Leu161=) c.91C>T (p.Leu31=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400485T>A | CA370635977 | NAT2 | c.482T>A (p.Leu161Gln) c.92T>A (p.Leu31Gln) | |
8 | g.18400485T>C | CA370635978 | NAT2 | c.482T>C (p.Leu161Pro) c.92T>C (p.Leu31Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400485T>G | CA370635979 | NAT2 | c.482T>G (p.Leu161Arg) c.92T>G (p.Leu31Arg) | |
8 | g.18400485T= | CA1768219007 | NAT2 | c.482T= (p.Leu161=) c.92T= (p.Leu31=) | |
8 | g.18400486G>A | CA459881143 | NAT2 | c.483G>A (p.Leu161=) c.93G>A (p.Leu31=) | gnomAD v4 |
8 | g.18400486G>C | CA459881141 | NAT2 | c.483G>C (p.Leu161=) c.93G>C (p.Leu31=) | |
8 | g.18400486G>T | CA459881142 | NAT2 | c.483G>T (p.Leu161=) c.93G>T (p.Leu31=) | |
8 | g.18400487G>A | CA370635980 | NAT2 | c.484G>A (p.Asp162Asn) c.94G>A (p.Asp32Asn) | |
8 | g.18400487G>C | CA370635981 | NAT2 | c.484G>C (p.Asp162His) c.94G>C (p.Asp32His) | gnomAD v4 |
8 | g.18400487G>T | CA370635982 | NAT2 | c.484G>T (p.Asp162Tyr) c.94G>T (p.Asp32Tyr) | |
8 | g.18400488A>C | CA370635985 | NAT2 | c.485A>C (p.Asp162Ala) c.95A>C (p.Asp32Ala) | gnomAD v4 |
8 | g.18400488A>G | CA370635984 | NAT2 | c.485A>G (p.Asp162Gly) c.95A>G (p.Asp32Gly) | |
8 | g.18400488A>T | CA370635983 | NAT2 | c.485A>T (p.Asp162Val) c.95A>T (p.Asp32Val) | |
8 | g.18400489C>A | CA370635986 | NAT2 | c.486C>A (p.Asp162Glu) c.96C>A (p.Asp32Glu) | |
8 | g.18400489C= | CA1768219008 | NAT2 | c.486C= (p.Asp162=) c.96C= (p.Asp32=) | |
8 | g.18400489C>G | CA173519925 | NAT2 | c.486C>G (p.Asp162Glu) c.96C>G (p.Asp32Glu) | dbSNP |
8 | g.18400489C>T | CA459881144 | NAT2 | c.486C>T (p.Asp162=) c.96C>T (p.Asp32=) | |
8 | g.18400490C>A | CA370635987 | NAT2 | c.487C>A (p.Gln163Lys) c.97C>A (p.Gln33Lys) | gnomAD v4 |
8 | g.18400490C>G | CA370635988 | NAT2 | c.487C>G (p.Gln163Glu) c.97C>G (p.Gln33Glu) | |
8 | g.18400490C>T | CA370635989 | NAT2 | c.487C>T (p.Gln163Ter) c.97C>T (p.Gln33Ter) | COSMIC |
8 | g.18400491A>C | CA370635990 | NAT2 | c.488A>C (p.Gln163Pro) c.98A>C (p.Gln33Pro) | |
8 | g.18400491A>G | CA370635991 | NAT2 | c.488A>G (p.Gln163Arg) c.98A>G (p.Gln33Arg) | |
8 | g.18400491A>T | CA370635992 | NAT2 | c.488A>T (p.Gln163Leu) c.98A>T (p.Gln33Leu) | |
8 | g.18400492A>C | CA370635993 | NAT2 | c.489A>C (p.Gln163His) c.99A>C (p.Gln33His) | |
8 | g.18400492A>G | CA459881145 | NAT2 | c.489A>G (p.Gln163=) c.99A>G (p.Gln33=) | |
8 | g.18400492A>T | CA370635994 | NAT2 | c.489A>T (p.Gln163His) c.99A>T (p.Gln33His) | |
8 | g.18400493A>C | CA370635995 | NAT2 | c.490A>C (p.Ile164Leu) c.100A>C (p.Ile34Leu) | |
8 | g.18400493A>G | CA370635996 | NAT2 | c.490A>G (p.Ile164Val) c.100A>G (p.Ile34Val) | |
8 | g.18400493A>T | CA370635997 | NAT2 | c.490A>T (p.Ile164Phe) c.100A>T (p.Ile34Phe) | |
8 | g.18400494T>A | CA370635999 | NAT2 | c.491T>A (p.Ile164Asn) c.101T>A (p.Ile34Asn) | |
8 | g.18400494T>C | CA4651632 | NAT2 | c.491T>C (p.Ile164Thr) c.101T>C (p.Ile34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.18400494T>G | CA370635998 | NAT2 | c.491T>G (p.Ile164Ser) c.101T>G (p.Ile34Ser) | |
8 | g.18400494T= | CA1768219009 | NAT2 | c.491T= (p.Ile164=) c.101T= (p.Ile34=) | |
8 | g.18400495C>A | CA459881146 | NAT2 | c.492C>A (p.Ile164=) c.102C>A (p.Ile34=) | |
8 | g.18400495C>G | CA370636000 | NAT2 | c.492C>G (p.Ile164Met) c.102C>G (p.Ile34Met) | |
8 | g.18400495C>T | CA459881147 | NAT2 | c.492C>T (p.Ile164=) c.102C>T (p.Ile34=) | |
8 | g.18400496A= | CA1768219010 | NAT2 | c.493A= (p.Arg165=) c.103A= (p.Arg35=) | |
8 | g.18400496A>C | CA459881148 | NAT2 | c.493A>C (p.Arg165=) c.103A>C (p.Arg35=) | |
8 | g.18400496A>G | CA370636001 | NAT2 | c.493A>G (p.Arg165Gly) c.103A>G (p.Arg35Gly) | |
8 | g.18400496A>T | CA370636002 | NAT2 | c.493A>T (p.Arg165Trp) c.103A>T (p.Arg35Trp) | dbSNP COSMIC |
8 | g.18400497G>A | CA370636003 | NAT2 | c.494G>A (p.Arg165Lys) c.104G>A (p.Arg35Lys) | COSMIC |
8 | g.18400497G>C | CA370636004 | NAT2 | c.494G>C (p.Arg165Thr) c.104G>C (p.Arg35Thr) | |
8 | g.18400497G>T | CA370636005 | NAT2 | c.494G>T (p.Arg165Met) c.104G>T (p.Arg35Met) | |
8 | g.18400498G>A | CA459881149 | NAT2 | c.495G>A (p.Arg165=) c.105G>A (p.Arg35=) |