Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400473_18400504del | CA1768218996 | NAT2 | c.470_501del (p.Gly157AlafsTer10) c.80_111del (p.Gly27AlafsTer10) | dbSNP |
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=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400507G>C | CA370636028 | NAT2 | c.504G>C (p.Gln168His) c.114G>C (p.Gln38His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400507G= | CA1768219014 | NAT2 | c.504G= (p.Gln168=) c.114G= (p.Gln38=) | |
8 | g.18400507G>T | CA370636027 | NAT2 | c.504G>T (p.Gln168His) c.114G>T (p.Gln38His) | |
8 | g.18400508T>A | CA370636029 | NAT2 | c.505T>A (p.Tyr169Asn) c.115T>A (p.Tyr39Asn) | |
8 | g.18400508T>C | CA370636030 | NAT2 | c.505T>C (p.Tyr169His) c.115T>C (p.Tyr39His) | ClinVar |
8 | g.18400508T>G | CA370636031 | NAT2 | c.505T>G (p.Tyr169Asp) c.115T>G (p.Tyr39Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18400508T= | CA1768219015 | NAT2 | c.505T= (p.Tyr169=) c.115T= (p.Tyr39=) | |
8 | g.18400509A= | CA1768219016 | NAT2 | c.506A= (p.Tyr169=) c.116A= (p.Tyr39=) | |
8 | g.18400509A>C | CA370636032 | NAT2 | c.506A>C (p.Tyr169Ser) c.116A>C (p.Tyr39Ser) | |
8 | g.18400509A>G | CA173519926 | NAT2 | c.506A>G (p.Tyr169Cys) c.116A>G (p.Tyr39Cys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400509A>T | CA370636033 | NAT2 | c.506A>T (p.Tyr169Phe) c.116A>T (p.Tyr39Phe) | |
8 | g.18400510T>A | CA370636034 | NAT2 | c.507T>A (p.Tyr169Ter) c.117T>A (p.Tyr39Ter) | |
8 | g.18400510T>C | CA459881154 | NAT2 | c.507T>C (p.Tyr169=) c.117T>C (p.Tyr39=) | dbSNP gnomAD v4 |
8 | g.18400510T>G | CA370636035 | NAT2 | c.507T>G (p.Tyr169Ter) c.117T>G (p.Tyr39Ter) | |
8 | g.18400510T= | CA1768219017 | NAT2 | c.507T= (p.Tyr169=) c.117T= (p.Tyr39=) | |
8 | g.18400511A>C | CA370636036 | NAT2 | c.508A>C (p.Ile170Leu) c.118A>C (p.Ile40Leu) | |
8 | g.18400511A>G | CA370636038 | NAT2 | c.508A>G (p.Ile170Val) c.118A>G (p.Ile40Val) | gnomAD v4 |
8 | g.18400511A>T | CA370636037 | NAT2 | c.508A>T (p.Ile170Phe) c.118A>T (p.Ile40Phe) | |
8 | g.18400512T>A | CA370636039 | NAT2 | c.509T>A (p.Ile170Asn) c.119T>A (p.Ile40Asn) | |
8 | g.18400512T>C | CA370636040 | NAT2 | c.509T>C (p.Ile170Thr) c.119T>C (p.Ile40Thr) | |
8 | g.18400512T>G | CA370636041 | NAT2 | c.509T>G (p.Ile170Ser) c.119T>G (p.Ile40Ser) | |
8 | g.18400513T>A | CA459881155 | NAT2 | c.510T>A (p.Ile170=) c.120T>A (p.Ile40=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400513T>C | CA459881156 | NAT2 | c.510T>C (p.Ile170=) c.120T>C (p.Ile40=) | |
8 | g.18400513T>G | CA370636042 | NAT2 | c.510T>G (p.Ile170Met) c.120T>G (p.Ile40Met) | |
8 | g.18400513T= | CA1768219018 | NAT2 | c.510T= (p.Ile170=) c.120T= (p.Ile40=) | |
8 | g.18400513_18400517delinsTACAA | CA1768219019 | NAT2 | c.510_514delinsTACAA (p.Ile170=) c.120_124delinsTACAA (p.Ile40=) | |
8 | g.18400514A>C | CA370636043 | NAT2 | c.511A>C (p.Thr171Pro) c.121A>C (p.Thr41Pro) | dbSNP |
8 | g.18400514A>G | CA370636045 | NAT2 | c.511A>G (p.Thr171Ala) c.121A>G (p.Thr41Ala) | |
8 | g.18400514A>T | CA370636044 | NAT2 | c.511A>T (p.Thr171Ser) c.121A>T (p.Thr41Ser) | |
8 | g.18400519_18400522del | CA1768219020 | NAT2 | c.516_519del (p.Asn172LysfsTer?) c.126_129del (p.Asn42LysfsTer?) | dbSNP gnomAD v4 |
8 | g.18400515C>A | CA370636046 | NAT2 | c.512C>A (p.Thr171Lys) c.122C>A (p.Thr41Lys) | |
8 | g.18400515C= | CA1768219021 | NAT2 | c.512C= (p.Thr171=) c.122C= (p.Thr41=) | |
8 | g.18400515C>G | CA370636047 | NAT2 | c.512C>G (p.Thr171Arg) c.122C>G (p.Thr41Arg) | |
8 | g.18400515C>T | CA173519927 | NAT2 | c.512C>T (p.Thr171Ile) c.122C>T (p.Thr41Ile) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18400516A>C | CA459881157 | NAT2 | c.513A>C (p.Thr171=) c.123A>C (p.Thr41=) | |
8 | g.18400516A>G | CA459881158 | NAT2 | c.513A>G (p.Thr171=) c.123A>G (p.Thr41=) | |
8 | g.18400516A>T | CA459881159 | NAT2 | c.513A>T (p.Thr171=) c.123A>T (p.Thr41=) | |
8 | g.18400517A>C | CA370636048 | NAT2 | c.514A>C (p.Asn172His) c.124A>C (p.Asn42His) | |
8 | g.18400517A>G | CA370636049 | NAT2 | c.514A>G (p.Asn172Asp) c.124A>G (p.Asn42Asp) |