| 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.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=) | |
| 8 | g.18400498G>C | CA370636006 | NAT2 | c.495G>C (p.Arg165Ser) c.105G>C (p.Arg35Ser) | |
| 8 | g.18400498G>T | CA370636007 | NAT2 | c.495G>T (p.Arg165Ser) c.105G>T (p.Arg35Ser) | gnomAD v4 |
| 8 | g.18400499A= | CA1768219011 | NAT2 | c.496A= (p.Arg166=) c.106A= (p.Arg36=) | |
| 8 | g.18400499A>C | CA459881150 | NAT2 | c.496A>C (p.Arg166=) c.106A>C (p.Arg36=) | |
| 8 | g.18400499A>G | CA370636008 | NAT2 | c.496A>G (p.Arg166Gly) c.106A>G (p.Arg36Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400499A>T | CA370636009 | NAT2 | c.496A>T (p.Arg166Ter) c.106A>T (p.Arg36Ter) | gnomAD v4 |
| 8 | g.18400500G>A | CA370636010 | NAT2 | c.497G>A (p.Arg166Lys) c.107G>A (p.Arg36Lys) | gnomAD v4 |
| 8 | g.18400500G>C | CA370636011 | NAT2 | c.497G>C (p.Arg166Thr) c.107G>C (p.Arg36Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.18400500G= | CA1768219012 | NAT2 | c.497G= (p.Arg166=) c.107G= (p.Arg36=) | |
| 8 | g.18400500G>T | CA370636012 | NAT2 | c.497G>T (p.Arg166Ile) c.107G>T (p.Arg36Ile) | |
| 8 | g.18400501A>C | CA370636013 | NAT2 | c.498A>C (p.Arg166Ser) c.108A>C (p.Arg36Ser) | |
| 8 | g.18400501A>G | CA459881151 | NAT2 | c.498A>G (p.Arg166=) c.108A>G (p.Arg36=) | |
| 8 | g.18400501A>T | CA370636014 | NAT2 | c.498A>T (p.Arg166Ser) c.108A>T (p.Arg36Ser) | |
| 8 | g.18400502G>A | CA4651633 | NAT2 | c.499G>A (p.Glu167Lys) c.109G>A (p.Glu37Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400502G>C | CA4651634 | NAT2 | c.499G>C (p.Glu167Gln) c.109G>C (p.Glu37Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.18400502G= | CA1768219013 | NAT2 | c.499G= (p.Glu167=) c.109G= (p.Glu37=) | |
| 8 | g.18400502G>T | CA370636015 | NAT2 | c.499G>T (p.Glu167Ter) c.109G>T (p.Glu37Ter) | |
| 8 | g.18400503A>C | CA370636016 | NAT2 | c.500A>C (p.Glu167Ala) c.110A>C (p.Glu37Ala) | |
| 8 | g.18400503A>G | CA370636017 | NAT2 | c.500A>G (p.Glu167Gly) c.110A>G (p.Glu37Gly) | |
| 8 | g.18400503A>T | CA370636018 | NAT2 | c.500A>T (p.Glu167Val) c.110A>T (p.Glu37Val) | |
| 8 | g.18400504G>A | CA459881152 | NAT2 | c.501G>A (p.Glu167=) c.111G>A (p.Glu37=) | gnomAD v4 |
| 8 | g.18400504G>C | CA370636019 | NAT2 | c.501G>C (p.Glu167Asp) c.111G>C (p.Glu37Asp) | gnomAD v4 |
| 8 | g.18400504G>T | CA370636020 | NAT2 | c.501G>T (p.Glu167Asp) c.111G>T (p.Glu37Asp) | |
| 8 | g.18400505C>A | CA370636021 | NAT2 | c.502C>A (p.Gln168Lys) c.112C>A (p.Gln38Lys) | gnomAD v4 |
| 8 | g.18400505C>G | CA370636022 | NAT2 | c.502C>G (p.Gln168Glu) c.112C>G (p.Gln38Glu) | gnomAD v4 |
| 8 | g.18400505C>T | CA370636023 | NAT2 | c.502C>T (p.Gln168Ter) c.112C>T (p.Gln38Ter) | gnomAD v4 |
| 8 | g.18400506A>C | CA370636024 | NAT2 | c.503A>C (p.Gln168Pro) c.113A>C (p.Gln38Pro) | |
| 8 | g.18400506A>G | CA370636025 | NAT2 | c.503A>G (p.Gln168Arg) c.113A>G (p.Gln38Arg) | |
| 8 | g.18400506A>T | CA370636026 | NAT2 | c.503A>T (p.Gln168Leu) c.113A>T (p.Gln38Leu) | gnomAD v4 |
| 8 | g.18400507G>A | CA459881153 | NAT2 | c.504G>A (p.Gln168=) c.114G>A (p.Gln38=) | dbSNP gnomAD v2 gnomAD v4 |