Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18400513_18400517delinsTACAA | CA1768219019 | NAT2 | c.510_514delinsTACAA (p.Ile170=) c.120_124delinsTACAA (p.Ile40=) | |
8 | g.18400519_18400522del | CA1768219020 | NAT2 | c.516_519del (p.Asn172LysfsTer?) c.126_129del (p.Asn42LysfsTer?) | dbSNP 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) | |
8 | g.18400517A>T | CA370636050 | NAT2 | c.514A>T (p.Asn172Tyr) c.124A>T (p.Asn42Tyr) | |
8 | g.18400518A>C | CA370636051 | NAT2 | c.515A>C (p.Asn172Thr) c.125A>C (p.Asn42Thr) | |
8 | g.18400518A>G | CA370636052 | NAT2 | c.515A>G (p.Asn172Ser) c.125A>G (p.Asn42Ser) | |
8 | g.18400518A>T | CA370636053 | NAT2 | c.515A>T (p.Asn172Ile) c.125A>T (p.Asn42Ile) | |
8 | g.18400519C>A | CA370636054 | NAT2 | c.516C>A (p.Asn172Lys) c.126C>A (p.Asn42Lys) | |
8 | g.18400519C= | CA1768219022 | NAT2 | c.516C= (p.Asn172=) c.126C= (p.Asn42=) | |
8 | g.18400519C>G | CA370636055 | NAT2 | c.516C>G (p.Asn172Lys) c.126C>G (p.Asn42Lys) | gnomAD v4 |
8 | g.18400519C>T | CA459881160 | NAT2 | c.516C>T (p.Asn172=) c.126C>T (p.Asn42=) | dbSNP gnomAD v4 |
8 | g.18400520A= | CA1768219023 | NAT2 | c.517A= (p.Lys173=) c.127A= (p.Lys43=) | |
8 | g.18400520A>C | CA173519928 | NAT2 | c.517A>C (p.Lys173Gln) c.127A>C (p.Lys43Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400520A>G | CA370636057 | NAT2 | c.517A>G (p.Lys173Glu) c.127A>G (p.Lys43Glu) | dbSNP |
8 | g.18400520A>T | CA370636056 | NAT2 | c.517A>T (p.Lys173Ter) c.127A>T (p.Lys43Ter) | |
8 | g.18400522_18400525del | CA2686326439 | NAT2 | c.519_522del (p.Lys173AsnfsTer?) c.129_132del (p.Lys43AsnfsTer?) | gnomAD v4 |
8 | g.18400521A= | CA1768219024 | NAT2 | c.518A= (p.Lys173=) c.128A= (p.Lys43=) | |
8 | g.18400521A>C | CA370636058 | NAT2 | c.518A>C (p.Lys173Thr) c.128A>C (p.Lys43Thr) | |
8 | g.18400521A>G | CA4651635 | NAT2 | c.518A>G (p.Lys173Arg) c.128A>G (p.Lys43Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18400521A>T | CA370636059 | NAT2 | c.518A>T (p.Lys173Ile) c.128A>T (p.Lys43Ile) | |
8 | g.18400522A>C | CA370636060 | NAT2 | c.519A>C (p.Lys173Asn) c.129A>C (p.Lys43Asn) | |
8 | g.18400522A>G | CA459881161 | NAT2 | c.519A>G (p.Lys173=) c.129A>G (p.Lys43=) | |
8 | g.18400522A>T | CA370636061 | NAT2 | c.519A>T (p.Lys173Asn) c.129A>T (p.Lys43Asn) | |
8 | g.18400523G>A | CA4651636 | NAT2 | c.520G>A (p.Glu174Lys) c.130G>A (p.Glu44Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18400523G>C | CA370636063 | NAT2 | c.520G>C (p.Glu174Gln) c.130G>C (p.Glu44Gln) | |
8 | g.18400523G= | CA1768219025 | NAT2 | c.520G= (p.Glu174=) c.130G= (p.Glu44=) | |
8 | g.18400523G>T | CA370636062 | NAT2 | c.520G>T (p.Glu174Ter) c.130G>T (p.Glu44Ter) | dbSNP gnomAD v4 COSMIC |
8 | g.18400524A>C | CA370636064 | NAT2 | c.521A>C (p.Glu174Ala) c.131A>C (p.Glu44Ala) | |
8 | g.18400524A>G | CA370636065 | NAT2 | c.521A>G (p.Glu174Gly) c.131A>G (p.Glu44Gly) | |
8 | g.18400524A>T | CA370636066 | NAT2 | c.521A>T (p.Glu174Val) c.131A>T (p.Glu44Val) | |
8 | g.18400525A= | CA1768219026 | NAT2 | c.522A= (p.Glu174=) c.132A= (p.Glu44=) | |
8 | g.18400525A>C | CA370636067 | NAT2 | c.522A>C (p.Glu174Asp) c.132A>C (p.Glu44Asp) | |
8 | g.18400525A>G | CA459881162 | NAT2 | c.522A>G (p.Glu174=) c.132A>G (p.Glu44=) | |
8 | g.18400525A>T | CA370636068 | NAT2 | c.522A>T (p.Glu174Asp) c.132A>T (p.Glu44Asp) | dbSNP |
8 | g.18400526T>A | CA370636069 | NAT2 | c.523T>A (p.Phe175Ile) c.133T>A (p.Phe45Ile) | COSMIC |
8 | g.18400526T>C | CA370636070 | NAT2 | c.523T>C (p.Phe175Leu) c.133T>C (p.Phe45Leu) | gnomAD v4 |
8 | g.18400526T>G | CA370636071 | NAT2 | c.523T>G (p.Phe175Val) c.133T>G (p.Phe45Val) | |
8 | g.18400527T>A | CA370636072 | NAT2 | c.524T>A (p.Phe175Tyr) c.134T>A (p.Phe45Tyr) | |
8 | g.18400527T>C | CA370636073 | NAT2 | c.524T>C (p.Phe175Ser) c.134T>C (p.Phe45Ser) | |
8 | g.18400527T>G | CA370636074 | NAT2 | c.524T>G (p.Phe175Cys) c.134T>G (p.Phe45Cys) | |
8 | g.18400528T>A | CA370636075 | NAT2 | c.525T>A (p.Phe175Leu) c.135T>A (p.Phe45Leu) | |
8 | g.18400528T>C | CA459881163 | NAT2 | c.525T>C (p.Phe175=) c.135T>C (p.Phe45=) | gnomAD v4 |
8 | g.18400528T>G | CA370636076 | NAT2 | c.525T>G (p.Phe175Leu) c.135T>G (p.Phe45Leu) | |
8 | g.18400529C>A | CA370636077 | NAT2 | c.526C>A (p.Leu176Ile) c.136C>A (p.Leu46Ile) | |
8 | g.18400529C>G | CA370636079 | NAT2 | c.526C>G (p.Leu176Val) c.136C>G (p.Leu46Val) | |
8 | g.18400529C>T | CA370636078 | NAT2 | c.526C>T (p.Leu176Phe) c.136C>T (p.Leu46Phe) |