Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18222444C>A | CA370445215 | NAT1 | c.397C>A (p.Gln133Lys) c.583C>A (p.Gln195Lys) n.749C>A | |
8 | g.18222444C= | CA1768101153 | NAT1 | c.397C= (p.Gln133=) c.583C= (p.Gln195=) n.749C= | |
8 | g.18222444C>G | CA370445216 | NAT1 | c.397C>G (p.Gln133Glu) c.583C>G (p.Gln195Glu) n.749C>G | |
8 | g.18222444C>T | CA370445217 | NAT1 | c.397C>T (p.Gln133Ter) c.583C>T (p.Gln195Ter) n.749C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222445A>C | CA370445218 | NAT1 | c.398A>C (p.Gln133Pro) c.584A>C (p.Gln195Pro) n.750A>C | |
8 | g.18222445A>G | CA370445219 | NAT1 | c.398A>G (p.Gln133Arg) c.584A>G (p.Gln195Arg) n.750A>G | |
8 | g.18222445A>T | CA370445220 | NAT1 | c.398A>T (p.Gln133Leu) c.584A>T (p.Gln195Leu) n.750A>T | |
8 | g.18222446G>A | CA459877774 | NAT1 | c.399G>A (p.Gln133=) c.585G>A (p.Gln195=) n.751G>A | |
8 | g.18222446G>C | CA370445221 | NAT1 | c.399G>C (p.Gln133His) c.585G>C (p.Gln195His) n.751G>C | |
8 | g.18222446G>T | CA370445222 | NAT1 | c.399G>T (p.Gln133His) c.585G>T (p.Gln195His) n.751G>T | gnomAD v4 |
8 | g.18222447C>A | CA370445225 | NAT1 | c.400C>A (p.Pro134Thr) c.586C>A (p.Pro196Thr) n.752C>A | |
8 | g.18222447C= | CA1768101154 | NAT1 | c.400C= (p.Pro134=) c.586C= (p.Pro196=) n.752C= | |
8 | g.18222447C>G | CA370445224 | NAT1 | c.400C>G (p.Pro134Ala) c.586C>G (p.Pro196Ala) n.752C>G | dbSNP |
8 | g.18222447C>T | CA370445223 | NAT1 | c.400C>T (p.Pro134Ser) c.586C>T (p.Pro196Ser) n.752C>T | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222448C>A | CA173180369 | NAT1 | c.401C>A (p.Pro134His) c.587C>A (p.Pro196His) n.753C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222448C= | CA1768101155 | NAT1 | c.401C= (p.Pro134=) c.587C= (p.Pro196=) n.753C= | |
8 | g.18222448C>G | CA370445226 | NAT1 | c.401C>G (p.Pro134Arg) c.587C>G (p.Pro196Arg) n.753C>G | |
8 | g.18222448C>T | CA370445227 | NAT1 | c.401C>T (p.Pro134Leu) c.587C>T (p.Pro196Leu) n.753C>T | gnomAD v4 |
8 | g.18222449T>A | CA459877777 | NAT1 | c.402T>A (p.Pro134=) c.588T>A (p.Pro196=) n.754T>A | |
8 | g.18222449T>C | CA4651402 | NAT1 | c.402T>C (p.Pro134=) c.588T>C (p.Pro196=) n.754T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222449T>G | CA459877778 | NAT1 | c.402T>G (p.Pro134=) c.588T>G (p.Pro196=) n.754T>G | |
8 | g.18222449T= | CA1768101156 | NAT1 | c.402T= (p.Pro134=) c.588T= (p.Pro196=) n.754T= | |
8 | g.18222450C>A | CA370445228 | NAT1 | c.403C>A (p.Leu135Met) c.589C>A (p.Leu197Met) n.755C>A | |
8 | g.18222450C>G | CA370445229 | NAT1 | c.403C>G (p.Leu135Val) c.589C>G (p.Leu197Val) n.755C>G | gnomAD v4 |
8 | g.18222450C>T | CA459877780 | NAT1 | c.403C>T (p.Leu135=) c.589C>T (p.Leu197=) n.755C>T | |
8 | g.18222451T>A | CA370445230 | NAT1 | c.404T>A (p.Leu135Gln) c.590T>A (p.Leu197Gln) n.756T>A | |
8 | g.18222451T>C | CA370445231 | NAT1 | c.404T>C (p.Leu135Pro) c.590T>C (p.Leu197Pro) n.756T>C | dbSNP gnomAD v4 |
8 | g.18222451T>G | CA370445232 | NAT1 | c.404T>G (p.Leu135Arg) c.590T>G (p.Leu197Arg) n.756T>G | |
8 | g.18222451T= | CA1768101157 | NAT1 | c.404T= (p.Leu135=) c.590T= (p.Leu197=) n.756T= | |
8 | g.18222452G>A | CA4651403 | NAT1 | c.405G>A (p.Leu135=) c.591G>A (p.Leu197=) n.757G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222452G>C | CA459877782 | NAT1 | c.405G>C (p.Leu135=) c.591G>C (p.Leu197=) n.757G>C | |
8 | g.18222452G= | CA1768101158 | NAT1 | c.405G= (p.Leu135=) c.591G= (p.Leu197=) n.757G= | |
8 | g.18222452G>T | CA459877783 | NAT1 | c.405G>T (p.Leu135=) c.591G>T (p.Leu197=) n.757G>T | |
8 | g.18222453G>A | CA370445233 | NAT1 | c.406G>A (p.Glu136Lys) c.592G>A (p.Glu198Lys) n.758G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222453G>C | CA370445234 | NAT1 | c.406G>C (p.Glu136Gln) c.592G>C (p.Glu198Gln) n.758G>C | |
8 | g.18222453G= | CA1768101159 | NAT1 | c.406G= (p.Glu136=) c.592G= (p.Glu198=) n.758G= | |
8 | g.18222453G>T | CA370445235 | NAT1 | c.406G>T (p.Glu136Ter) c.592G>T (p.Glu198Ter) n.758G>T | |
8 | g.18222454A= | CA1768101160 | NAT1 | c.407A= (p.Glu136=) c.593A= (p.Glu198=) n.759A= | |
8 | g.18222454A>C | CA370445238 | NAT1 | c.407A>C (p.Glu136Ala) c.593A>C (p.Glu198Ala) n.759A>C | |
8 | g.18222454A>G | CA370445237 | NAT1 | c.407A>G (p.Glu136Gly) c.593A>G (p.Glu198Gly) n.759A>G | dbSNP |
8 | g.18222454A>T | CA370445236 | NAT1 | c.407A>T (p.Glu136Val) c.593A>T (p.Glu198Val) n.759A>T | |
8 | g.18222455G>A | CA459877785 | NAT1 | c.408G>A (p.Glu136=) c.594G>A (p.Glu198=) n.760G>A | |
8 | g.18222455G>C | CA4651404 | NAT1 | c.408G>C (p.Glu136Asp) c.594G>C (p.Glu198Asp) n.760G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222455G= | CA1768101161 | NAT1 | c.408G= (p.Glu136=) c.594G= (p.Glu198=) n.760G= | |
8 | g.18222455G>T | CA370445239 | NAT1 | c.408G>T (p.Glu136Asp) c.594G>T (p.Glu198Asp) n.760G>T | |
8 | g.18222456T>A | CA370445240 | NAT1 | c.409T>A (p.Leu137Ile) c.595T>A (p.Leu199Ile) n.761T>A | |
8 | g.18222456T>C | CA4651405 | NAT1 | c.409T>C (p.Leu137=) c.595T>C (p.Leu199=) n.761T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222456T>G | CA370445241 | NAT1 | c.409T>G (p.Leu137Val) c.595T>G (p.Leu199Val) n.761T>G | dbSNP |
8 | g.18222456T= | CA1768101162 | NAT1 | c.409T= (p.Leu137=) c.595T= (p.Leu199=) n.761T= | |
8 | g.18222457T>A | CA370445242 | NAT1 | c.410T>A (p.Leu137Ter) c.596T>A (p.Leu199Ter) n.762T>A | |
8 | g.18222457T>C | CA370445243 | NAT1 | c.410T>C (p.Leu137Ser) c.596T>C (p.Leu199Ser) n.762T>C | |
8 | g.18222457T>G | CA370445244 | NAT1 | c.410T>G (p.Leu137Ter) c.596T>G (p.Leu199Ter) n.762T>G | |
8 | g.18222458A>C | CA370445245 | NAT1 | c.411A>C (p.Leu137Phe) c.597A>C (p.Leu199Phe) n.763A>C | |
8 | g.18222458A>G | CA459877792 | NAT1 | c.411A>G (p.Leu137=) c.597A>G (p.Leu199=) n.763A>G | |
8 | g.18222458A>T | CA370445246 | NAT1 | c.411A>T (p.Leu137Phe) c.597A>T (p.Leu199Phe) n.763A>T | |
8 | g.18222459A>C | CA370445247 | NAT1 | c.412A>C (p.Ile138Leu) c.598A>C (p.Ile200Leu) n.764A>C | |
8 | g.18222459A>G | CA370445248 | NAT1 | c.412A>G (p.Ile138Val) c.598A>G (p.Ile200Val) n.764A>G | |
8 | g.18222459A>T | CA370445249 | NAT1 | c.412A>T (p.Ile138Phe) c.598A>T (p.Ile200Phe) n.764A>T | |
8 | g.18222460T>A | CA370445251 | NAT1 | c.413T>A (p.Ile138Asn) c.599T>A (p.Ile200Asn) n.765T>A | |
8 | g.18222460T>C | CA4651406 | NAT1 | c.413T>C (p.Ile138Thr) c.599T>C (p.Ile200Thr) n.765T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222460T>G | CA370445250 | NAT1 | c.413T>G (p.Ile138Ser) c.599T>G (p.Ile200Ser) n.765T>G | |
8 | g.18222460T= | CA1768101163 | NAT1 | c.413T= (p.Ile138=) c.599T= (p.Ile200=) n.765T= | |
8 | g.18222461T>A | CA459877795 | NAT1 | c.414T>A (p.Ile138=) c.600T>A (p.Ile200=) n.766T>A | |
8 | g.18222461T>C | CA459877796 | NAT1 | c.414T>C (p.Ile138=) c.600T>C (p.Ile200=) n.766T>C | |
8 | g.18222461T>G | CA370445252 | NAT1 | c.414T>G (p.Ile138Met) c.600T>G (p.Ile200Met) n.766T>G | |
8 | g.18222462T>A | CA370445254 | NAT1 | c.415T>A (p.Ser139Thr) c.601T>A (p.Ser201Thr) n.767T>A | |
8 | g.18222462T>C | CA370445253 | NAT1 | c.415T>C (p.Ser139Pro) c.601T>C (p.Ser201Pro) n.767T>C | |
8 | g.18222462T>G | CA370445255 | NAT1 | c.415T>G (p.Ser139Ala) c.601T>G (p.Ser201Ala) n.767T>G | |
8 | g.18222463C>A | CA370445256 | NAT1 | c.416C>A (p.Ser139Tyr) c.602C>A (p.Ser201Tyr) n.768C>A | dbSNP gnomAD v2 |
8 | g.18222463C= | CA1768101164 | NAT1 | c.416C= (p.Ser139=) c.602C= (p.Ser201=) n.768C= | |
8 | g.18222463C>G | CA370445257 | NAT1 | c.416C>G (p.Ser139Cys) c.602C>G (p.Ser201Cys) n.768C>G | |
8 | g.18222463C>T | CA370445258 | NAT1 | c.416C>T (p.Ser139Phe) c.602C>T (p.Ser201Phe) n.768C>T | |
8 | g.18222464T>A | CA459877797 | NAT1 | c.417T>A (p.Ser139=) c.603T>A (p.Ser201=) n.769T>A | |
8 | g.18222464T>C | CA459877799 | NAT1 | c.417T>C (p.Ser139=) c.603T>C (p.Ser201=) n.769T>C | |
8 | g.18222464T>G | CA459877798 | NAT1 | c.417T>G (p.Ser139=) c.603T>G (p.Ser201=) n.769T>G | |
8 | g.18222465G>A | CA370445259 | NAT1 | c.418G>A (p.Gly140Arg) c.604G>A (p.Gly202Arg) n.770G>A | |
8 | g.18222465G>C | CA370445260 | NAT1 | c.418G>C (p.Gly140Arg) c.604G>C (p.Gly202Arg) n.770G>C | |
8 | g.18222465G>T | CA370445261 | NAT1 | c.418G>T (p.Gly140Trp) c.604G>T (p.Gly202Trp) n.770G>T | |
8 | g.18222466G>A | CA370445262 | NAT1 | c.419G>A (p.Gly140Glu) c.605G>A (p.Gly202Glu) n.771G>A | COSMIC COSMIC |
8 | g.18222466G>C | CA370445263 | NAT1 | c.419G>C (p.Gly140Ala) c.605G>C (p.Gly202Ala) n.771G>C | gnomAD v4 |
8 | g.18222466G>T | CA370445264 | NAT1 | c.419G>T (p.Gly140Val) c.605G>T (p.Gly202Val) n.771G>T | |
8 | g.18222467G>A | CA459877802 | NAT1 | c.420G>A (p.Gly140=) c.606G>A (p.Gly202=) n.772G>A | gnomAD v4 |
8 | g.18222467G>C | CA459877803 | NAT1 | c.420G>C (p.Gly140=) c.606G>C (p.Gly202=) n.772G>C | |
8 | g.18222467G>T | CA459877804 | NAT1 | c.420G>T (p.Gly140=) c.606G>T (p.Gly202=) n.772G>T | |
8 | g.18222468A>C | CA370445265 | NAT1 | c.421A>C (p.Lys141Gln) c.607A>C (p.Lys203Gln) n.773A>C | |
8 | g.18222468A>G | CA370445266 | NAT1 | c.421A>G (p.Lys141Glu) c.607A>G (p.Lys203Glu) n.773A>G | |
8 | g.18222468A>T | CA370445267 | NAT1 | c.421A>T (p.Lys141Ter) c.607A>T (p.Lys203Ter) n.773A>T | |
8 | g.18222469A>C | CA370445268 | NAT1 | c.422A>C (p.Lys141Thr) c.608A>C (p.Lys203Thr) n.774A>C | |
8 | g.18222469A>G | CA370445270 | NAT1 | c.422A>G (p.Lys141Arg) c.608A>G (p.Lys203Arg) n.774A>G | |
8 | g.18222469A>T | CA370445269 | NAT1 | c.422A>T (p.Lys141Met) c.608A>T (p.Lys203Met) n.774A>T | |
8 | g.18222470G>A | CA459877809 | NAT1 | c.423G>A (p.Lys141=) c.609G>A (p.Lys203=) n.775G>A | |
8 | g.18222470G>C | CA370445271 | NAT1 | c.423G>C (p.Lys141Asn) c.609G>C (p.Lys203Asn) n.775G>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222470G= | CA1768101165 | NAT1 | c.423G= (p.Lys141=) c.609G= (p.Lys203=) n.775G= | |
8 | g.18222470G>T | CA370445272 | NAT1 | c.423G>T (p.Lys141Asn) c.609G>T (p.Lys203Asn) n.775G>T | |
8 | g.18222471del | CA2686324949 | NAT1 | c.424del (p.Asp142IlefsTer11) c.610del (p.Asp204IlefsTer11) n.776del | gnomAD v4 |
8 | g.18222471G>A | CA370445273 | NAT1 | c.424G>A (p.Asp142Asn) c.610G>A (p.Asp204Asn) n.776G>A | gnomAD v4 |
8 | g.18222471G>C | CA370445274 | NAT1 | c.424G>C (p.Asp142His) c.610G>C (p.Asp204His) n.776G>C | gnomAD v4 |
8 | g.18222471G= | CA1768101166 | NAT1 | c.424G= (p.Asp142=) c.610G= (p.Asp204=) n.776G= | |
8 | g.18222471G>T | CA4651407 | NAT1 | c.424G>T (p.Asp142Tyr) c.610G>T (p.Asp204Tyr) n.776G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222472A= | CA1768101167 | NAT1 | c.425A= (p.Asp142=) c.611A= (p.Asp204=) n.777A= | |
8 | g.18222472A>C | CA370445275 | NAT1 | c.425A>C (p.Asp142Ala) c.611A>C (p.Asp204Ala) n.777A>C | |
8 | g.18222472A>G | CA370445276 | NAT1 | c.425A>G (p.Asp142Gly) c.611A>G (p.Asp204Gly) n.777A>G | |
8 | g.18222472A>T | CA370445277 | NAT1 | c.425A>T (p.Asp142Val) c.611A>T (p.Asp204Val) n.777A>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222473T>A | CA370445278 | NAT1 | c.426T>A (p.Asp142Glu) c.612T>A (p.Asp204Glu) n.778T>A | |
8 | g.18222473T>C | CA459877811 | NAT1 | c.426T>C (p.Asp142=) c.612T>C (p.Asp204=) n.778T>C | |
8 | g.18222473T>G | CA370445279 | NAT1 | c.426T>G (p.Asp142Glu) c.612T>G (p.Asp204Glu) n.778T>G | |
8 | g.18222474C>A | CA370445281 | NAT1 | c.427C>A (p.Gln143Lys) c.613C>A (p.Gln205Lys) n.779C>A | |
8 | g.18222474C>G | CA370445282 | NAT1 | c.427C>G (p.Gln143Glu) c.613C>G (p.Gln205Glu) n.779C>G | |
8 | g.18222474C>T | CA370445280 | NAT1 | c.427C>T (p.Gln143Ter) c.613C>T (p.Gln205Ter) n.779C>T | |
8 | g.18222475A= | CA1768101168 | NAT1 | c.428A= (p.Gln143=) c.614A= (p.Gln205=) n.780A= | |
8 | g.18222475A>C | CA370445283 | NAT1 | c.428A>C (p.Gln143Pro) c.614A>C (p.Gln205Pro) n.780A>C | gnomAD v4 |
8 | g.18222475A>G | CA370445284 | NAT1 | c.428A>G (p.Gln143Arg) c.614A>G (p.Gln205Arg) n.780A>G | dbSNP |
8 | g.18222475A>T | CA370445285 | NAT1 | c.428A>T (p.Gln143Leu) c.614A>T (p.Gln205Leu) n.780A>T | |
8 | g.18222476G>A | CA459877815 | NAT1 | c.429G>A (p.Gln143=) c.615G>A (p.Gln205=) n.781G>A | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222476G>C | CA370445286 | NAT1 | c.429G>C (p.Gln143His) c.615G>C (p.Gln205His) n.781G>C | |
8 | g.18222476G= | CA1768101169 | NAT1 | c.429G= (p.Gln143=) c.615G= (p.Gln205=) n.781G= | |
8 | g.18222476G>T | CA370445287 | NAT1 | c.429G>T (p.Gln143His) c.615G>T (p.Gln205His) n.781G>T | |
8 | g.18222477C>A | CA370445288 | NAT1 | c.430C>A (p.Pro144Thr) c.616C>A (p.Pro206Thr) n.782C>A | |
8 | g.18222477C= | CA1768101170 | NAT1 | c.430C= (p.Pro144=) c.616C= (p.Pro206=) n.782C= | |
8 | g.18222477C>G | CA370445289 | NAT1 | c.430C>G (p.Pro144Ala) c.616C>G (p.Pro206Ala) n.782C>G | |
8 | g.18222477C>T | CA4651408 | NAT1 | c.430C>T (p.Pro144Ser) c.616C>T (p.Pro206Ser) n.782C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222478C>A | CA370445290 | NAT1 | c.431C>A (p.Pro144His) c.617C>A (p.Pro206His) n.783C>A | |
8 | g.18222478C>G | CA370445291 | NAT1 | c.431C>G (p.Pro144Arg) c.617C>G (p.Pro206Arg) n.783C>G | |
8 | g.18222478C>T | CA370445292 | NAT1 | c.431C>T (p.Pro144Leu) c.617C>T (p.Pro206Leu) n.783C>T | gnomAD v4 |
8 | g.18222479T>A | CA459877818 | NAT1 | c.432T>A (p.Pro144=) c.618T>A (p.Pro206=) n.784T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222479T>C | CA459877816 | NAT1 | c.432T>C (p.Pro144=) c.618T>C (p.Pro206=) n.784T>C | dbSNP gnomAD v4 |
8 | g.18222479T>G | CA459877817 | NAT1 | c.432T>G (p.Pro144=) c.618T>G (p.Pro206=) n.784T>G | |
8 | g.18222479T= | CA1768101171 | NAT1 | c.432T= (p.Pro144=) c.618T= (p.Pro206=) n.784T= | |
8 | g.18222480C>A | CA370445294 | NAT1 | c.433C>A (p.Gln145Lys) c.619C>A (p.Gln207Lys) n.785C>A | |
8 | g.18222480C>G | CA370445295 | NAT1 | c.433C>G (p.Gln145Glu) c.619C>G (p.Gln207Glu) n.785C>G | |
8 | g.18222480C>T | CA370445293 | NAT1 | c.433C>T (p.Gln145Ter) c.619C>T (p.Gln207Ter) n.785C>T | gnomAD v4 |
8 | g.18222481A>C | CA370445296 | NAT1 | c.434A>C (p.Gln145Pro) c.620A>C (p.Gln207Pro) n.786A>C | gnomAD v4 |
8 | g.18222481A>G | CA370445297 | NAT1 | c.434A>G (p.Gln145Arg) c.620A>G (p.Gln207Arg) n.786A>G | |
8 | g.18222481A>T | CA370445298 | NAT1 | c.434A>T (p.Gln145Leu) c.620A>T (p.Gln207Leu) n.786A>T | |
8 | g.18222482G>A | CA459877821 | NAT1 | c.435G>A (p.Gln145=) c.621G>A (p.Gln207=) n.787G>A | |
8 | g.18222482G>C | CA370445299 | NAT1 | c.435G>C (p.Gln145His) c.621G>C (p.Gln207His) n.787G>C | |
8 | g.18222482G>T | CA370445300 | NAT1 | c.435G>T (p.Gln145His) c.621G>T (p.Gln207His) n.787G>T | |
8 | g.18222483G>A | CA370445303 | NAT1 | c.436G>A (p.Val146Met) c.622G>A (p.Val208Met) n.788G>A | |
8 | g.18222483G>C | CA370445301 | NAT1 | c.436G>C (p.Val146Leu) c.622G>C (p.Val208Leu) n.788G>C | |
8 | g.18222483G>T | CA370445302 | NAT1 | c.436G>T (p.Val146Leu) c.622G>T (p.Val208Leu) n.788G>T | |
8 | g.18222484T>A | CA370445304 | NAT1 | c.437T>A (p.Val146Glu) c.623T>A (p.Val208Glu) n.789T>A | |
8 | g.18222484T>C | CA370445305 | NAT1 | c.437T>C (p.Val146Ala) c.623T>C (p.Val208Ala) n.789T>C | |
8 | g.18222484T>G | CA370445306 | NAT1 | c.437T>G (p.Val146Gly) c.623T>G (p.Val208Gly) n.789T>G | dbSNP |
8 | g.18222484T= | CA1768101172 | NAT1 | c.437T= (p.Val146=) c.623T= (p.Val208=) n.789T= | |
8 | g.18222485del | CA2686324950 | NAT1 | c.438del (p.Pro147LeufsTer6) c.624del (p.Pro209LeufsTer6) n.790del | gnomAD v4 |
8 | g.18222485G>A | CA459877823 | NAT1 | c.438G>A (p.Val146=) c.624G>A (p.Val208=) n.790G>A | gnomAD v4 |
8 | g.18222485G>C | CA459877824 | NAT1 | c.438G>C (p.Val146=) c.624G>C (p.Val208=) n.790G>C | |
8 | g.18222485G>T | CA459877825 | NAT1 | c.438G>T (p.Val146=) c.624G>T (p.Val208=) n.790G>T | |
8 | g.18222486C>A | CA370445307 | NAT1 | c.439C>A (p.Pro147Thr) c.625C>A (p.Pro209Thr) n.791C>A | gnomAD v4 |
8 | g.18222486C= | CA1768101173 | NAT1 | c.439C= (p.Pro147=) c.625C= (p.Pro209=) n.791C= | |
8 | g.18222486C>G | CA370445308 | NAT1 | c.439C>G (p.Pro147Ala) c.625C>G (p.Pro209Ala) n.791C>G | |
8 | g.18222486C>T | CA4651409 | NAT1 | c.439C>T (p.Pro147Ser) c.625C>T (p.Pro209Ser) n.791C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222487C>A | CA370445310 | NAT1 | c.440C>A (p.Pro147His) c.626C>A (p.Pro209His) n.792C>A | |
8 | g.18222487C>G | CA370445311 | NAT1 | c.440C>G (p.Pro147Arg) c.626C>G (p.Pro209Arg) n.792C>G | |
8 | g.18222487C>T | CA370445309 | NAT1 | c.440C>T (p.Pro147Leu) c.626C>T (p.Pro209Leu) n.792C>T | |
8 | g.18222488T>A | CA459877828 | NAT1 | c.441T>A (p.Pro147=) c.627T>A (p.Pro209=) n.793T>A | |
8 | g.18222488T>C | CA459877830 | NAT1 | c.441T>C (p.Pro147=) c.627T>C (p.Pro209=) n.793T>C | |
8 | g.18222488T>G | CA4651410 | NAT1 | c.441T>G (p.Pro147=) c.627T>G (p.Pro209=) n.793T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222488T= | CA1768101174 | NAT1 | c.441T= (p.Pro147=) c.627T= (p.Pro209=) n.793T= | |
8 | g.18222489T>A | CA370445312 | NAT1 | c.442T>A (p.Cys148Ser) c.628T>A (p.Cys210Ser) n.794T>A | |
8 | g.18222489T>C | CA370445313 | NAT1 | c.442T>C (p.Cys148Arg) c.628T>C (p.Cys210Arg) n.794T>C | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222489T>G | CA370445314 | NAT1 | c.442T>G (p.Cys148Gly) c.628T>G (p.Cys210Gly) n.794T>G | |
8 | g.18222489T= | CA1768101175 | NAT1 | c.442T= (p.Cys148=) c.628T= (p.Cys210=) n.794T= | |
8 | g.18222490G>A | CA370445315 | NAT1 | c.443G>A (p.Cys148Tyr) c.629G>A (p.Cys210Tyr) n.795G>A | dbSNP |
8 | g.18222490G>C | CA370445316 | NAT1 | c.443G>C (p.Cys148Ser) c.629G>C (p.Cys210Ser) n.795G>C | gnomAD v4 |
8 | g.18222490G= | CA1768101176 | NAT1 | c.443G= (p.Cys148=) c.629G= (p.Cys210=) n.795G= | |
8 | g.18222490G>T | CA370445317 | NAT1 | c.443G>T (p.Cys148Phe) c.629G>T (p.Cys210Phe) n.795G>T | |
8 | g.18222491T>A | CA370445319 | NAT1 | c.444T>A (p.Cys148Ter) c.630T>A (p.Cys210Ter) n.796T>A | |
8 | g.18222491T>C | CA459877832 | NAT1 | c.444T>C (p.Cys148=) c.630T>C (p.Cys210=) n.796T>C | dbSNP |
8 | g.18222491T>G | CA370445318 | NAT1 | c.444T>G (p.Cys148Trp) c.630T>G (p.Cys210Trp) n.796T>G | |
8 | g.18222491T= | CA1768101177 | NAT1 | c.444T= (p.Cys148=) c.630T= (p.Cys210=) n.796T= | |
8 | g.18222492G>A | CA127440 | NAT1 | c.445G>A (p.Val149Ile) c.631G>A (p.Val211Ile) n.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222492G>C | CA173180382 | NAT1 | c.445G>C (p.Val149Leu) c.631G>C (p.Val211Leu) n.797G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222492G= | CA1768101178 | NAT1 | c.445G= (p.Val149=) c.631G= (p.Val211=) n.797G= | |
8 | g.18222492G>T | CA370445320 | NAT1 | c.445G>T (p.Val149Phe) c.631G>T (p.Val211Phe) n.797G>T | |
8 | g.18222493T>A | CA370445321 | NAT1 | c.446T>A (p.Val149Asp) c.632T>A (p.Val211Asp) n.798T>A | gnomAD v4 |
8 | g.18222493T>C | CA370445322 | NAT1 | c.446T>C (p.Val149Ala) c.632T>C (p.Val211Ala) n.798T>C | |
8 | g.18222493T>G | CA370445323 | NAT1 | c.446T>G (p.Val149Gly) c.632T>G (p.Val211Gly) n.798T>G | |
8 | g.18222494C>A | CA459877835 | NAT1 | c.447C>A (p.Val149=) c.633C>A (p.Val211=) n.799C>A | |
8 | g.18222494C= | CA1768101179 | NAT1 | c.447C= (p.Val149=) c.633C= (p.Val211=) n.799C= | |
8 | g.18222494C>G | CA459877836 | NAT1 | c.447C>G (p.Val149=) c.633C>G (p.Val211=) n.799C>G | |
8 | g.18222494C>T | CA459877837 | NAT1 | c.447C>T (p.Val149=) c.633C>T (p.Val211=) n.799C>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222495T>A | CA370445324 | NAT1 | c.448T>A (p.Phe150Ile) c.634T>A (p.Phe212Ile) n.800T>A | |
8 | g.18222495T>C | CA370445326 | NAT1 | c.448T>C (p.Phe150Leu) c.634T>C (p.Phe212Leu) n.800T>C | |
8 | g.18222495T>G | CA370445325 | NAT1 | c.448T>G (p.Phe150Val) c.634T>G (p.Phe212Val) n.800T>G | |
8 | g.18222496T>A | CA370445327 | NAT1 | c.449T>A (p.Phe150Tyr) c.635T>A (p.Phe212Tyr) n.801T>A | |
8 | g.18222496T>C | CA370445328 | NAT1 | c.449T>C (p.Phe150Ser) c.635T>C (p.Phe212Ser) n.801T>C | |
8 | g.18222496T>G | CA370445329 | NAT1 | c.449T>G (p.Phe150Cys) c.635T>G (p.Phe212Cys) n.801T>G | |
8 | g.18222497C>A | CA370445330 | NAT1 | c.450C>A (p.Phe150Leu) c.636C>A (p.Phe212Leu) n.802C>A | |
8 | g.18222497C>G | CA370445331 | NAT1 | c.450C>G (p.Phe150Leu) c.636C>G (p.Phe212Leu) n.802C>G | |
8 | g.18222497C>T | CA459877844 | NAT1 | c.450C>T (p.Phe150=) c.636C>T (p.Phe212=) n.802C>T | |
8 | g.18222498C>A | CA370445332 | NAT1 | c.451C>A (p.Arg151Ser) c.637C>A (p.Arg213Ser) n.803C>A | |
8 | g.18222498C= | CA1768101180 | NAT1 | c.451C= (p.Arg151=) c.637C= (p.Arg213=) n.803C= | |
8 | g.18222498C>G | CA370445333 | NAT1 | c.451C>G (p.Arg151Gly) c.637C>G (p.Arg213Gly) n.803C>G | |
8 | g.18222498C>T | CA4651411 | NAT1 | c.451C>T (p.Arg151Cys) c.637C>T (p.Arg213Cys) n.803C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222499G>A | CA4651412 | NAT1 | c.452G>A (p.Arg151His) c.638G>A (p.Arg213His) n.804G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222499G>C | CA4651413 | NAT1 | c.452G>C (p.Arg151Pro) c.638G>C (p.Arg213Pro) n.804G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222499G= | CA1768101181 | NAT1 | c.452G= (p.Arg151=) c.638G= (p.Arg213=) n.804G= | |
8 | g.18222499G>T | CA370445334 | NAT1 | c.452G>T (p.Arg151Leu) c.638G>T (p.Arg213Leu) n.804G>T | |
8 | g.18222500T>A | CA459877850 | NAT1 | c.453T>A (p.Arg151=) c.639T>A (p.Arg213=) n.805T>A | |
8 | g.18222500T>C | CA459877848 | NAT1 | c.453T>C (p.Arg151=) c.639T>C (p.Arg213=) n.805T>C | dbSNP gnomAD v4 |
8 | g.18222500T>G | CA459877849 | NAT1 | c.453T>G (p.Arg151=) c.639T>G (p.Arg213=) n.805T>G | |
8 | g.18222500T= | CA1768101182 | NAT1 | c.453T= (p.Arg151=) c.639T= (p.Arg213=) n.805T= | |
8 | g.18222501T>A | CA370445336 | NAT1 | c.454T>A (p.Leu152Met) c.640T>A (p.Leu214Met) n.806T>A | |
8 | g.18222501T>C | CA459877853 | NAT1 | c.454T>C (p.Leu152=) c.640T>C (p.Leu214=) n.806T>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222501T>G | CA370445335 | NAT1 | c.454T>G (p.Leu152Val) c.640T>G (p.Leu214Val) n.806T>G | |
8 | g.18222501T= | CA1768101183 | NAT1 | c.454T= (p.Leu152=) c.640T= (p.Leu214=) n.806T= | |
8 | g.18222502T>A | CA370445337 | NAT1 | c.455T>A (p.Leu152Ter) c.641T>A (p.Leu214Ter) n.807T>A | |
8 | g.18222502T>C | CA370445338 | NAT1 | c.455T>C (p.Leu152Ser) c.641T>C (p.Leu214Ser) n.807T>C | |
8 | g.18222502T>G | CA4651414 | NAT1 | c.455T>G (p.Leu152Trp) c.641T>G (p.Leu214Trp) n.807T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222502T= | CA1768101184 | NAT1 | c.455T= (p.Leu152=) c.641T= (p.Leu214=) n.807T= | |
8 | g.18222503G>A | CA459877857 | NAT1 | c.456G>A (p.Leu152=) c.642G>A (p.Leu214=) n.808G>A | |
8 | g.18222503G>C | CA370445339 | NAT1 | c.456G>C (p.Leu152Phe) c.642G>C (p.Leu214Phe) n.808G>C | |
8 | g.18222503G>T | CA370445340 | NAT1 | c.456G>T (p.Leu152Phe) c.642G>T (p.Leu214Phe) n.808G>T | |
8 | g.18222504A= | CA1768101185 | NAT1 | c.457A= (p.Thr153=) c.643A= (p.Thr215=) n.809A= | |
8 | g.18222504A>C | CA370445341 | NAT1 | c.457A>C (p.Thr153Pro) c.643A>C (p.Thr215Pro) n.809A>C | |
8 | g.18222504A>G | CA370445342 | NAT1 | c.457A>G (p.Thr153Ala) c.643A>G (p.Thr215Ala) n.809A>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222504A>T | CA370445343 | NAT1 | c.457A>T (p.Thr153Ser) c.643A>T (p.Thr215Ser) n.809A>T | |
8 | g.18222505C>A | CA370445344 | NAT1 | c.458C>A (p.Thr153Lys) c.644C>A (p.Thr215Lys) n.810C>A | |
8 | g.18222505C= | CA1768101186 | NAT1 | c.458C= (p.Thr153=) c.644C= (p.Thr215=) n.810C= | |
8 | g.18222505C>G | CA370445345 | NAT1 | c.458C>G (p.Thr153Arg) c.644C>G (p.Thr215Arg) n.810C>G | |
8 | g.18222505C>T | CA4651415 | NAT1 | c.458C>T (p.Thr153Met) c.644C>T (p.Thr215Met) n.810C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222506G>A | CA4651416 | NAT1 | c.459G>A (p.Thr153=) c.645G>A (p.Thr215=) n.811G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222506G>C | CA459877863 | NAT1 | c.459G>C (p.Thr153=) c.645G>C (p.Thr215=) n.811G>C | |
8 | g.18222506G= | CA1768101187 | NAT1 | c.459G= (p.Thr153=) c.645G= (p.Thr215=) n.811G= | |
8 | g.18222506G>T | CA459877864 | NAT1 | c.459G>T (p.Thr153=) c.645G>T (p.Thr215=) n.811G>T | |
8 | g.18222507G>A | CA370445346 | NAT1 | c.460G>A (p.Glu154Lys) c.646G>A (p.Glu216Lys) n.812G>A | |
8 | g.18222507G>C | CA370445347 | NAT1 | c.460G>C (p.Glu154Gln) c.646G>C (p.Glu216Gln) n.812G>C | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222507G= | CA1768101188 | NAT1 | c.460G= (p.Glu154=) c.646G= (p.Glu216=) n.812G= | |
8 | g.18222507G>T | CA4651417 | NAT1 | c.460G>T (p.Glu154Ter) c.646G>T (p.Glu216Ter) n.812G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222508A>C | CA370445348 | NAT1 | c.461A>C (p.Glu154Ala) c.647A>C (p.Glu216Ala) n.813A>C | |
8 | g.18222508A>G | CA370445350 | NAT1 | c.461A>G (p.Glu154Gly) c.647A>G (p.Glu216Gly) n.813A>G | |
8 | g.18222508A>T | CA370445349 | NAT1 | c.461A>T (p.Glu154Val) c.647A>T (p.Glu216Val) n.813A>T | |
8 | g.18222509A= | CA1768101189 | NAT1 | c.462A= (p.Glu154=) c.648A= (p.Glu216=) n.814A= | |
8 | g.18222509A>C | CA370445351 | NAT1 | c.462A>C (p.Glu154Asp) c.648A>C (p.Glu216Asp) n.814A>C | |
8 | g.18222509A>G | CA4651418 | NAT1 | c.462A>G (p.Glu154=) c.648A>G (p.Glu216=) n.814A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222509A>T | CA370445352 | NAT1 | c.462A>T (p.Glu154Asp) c.648A>T (p.Glu216Asp) n.814A>T | |
8 | g.18222510G>A | CA370445353 | NAT1 | c.463G>A (p.Glu155Lys) c.649G>A (p.Glu217Lys) n.815G>A | |
8 | g.18222510G>C | CA370445354 | NAT1 | c.463G>C (p.Glu155Gln) c.649G>C (p.Glu217Gln) n.815G>C | |
8 | g.18222510G>T | CA370445355 | NAT1 | c.463G>T (p.Glu155Ter) c.649G>T (p.Glu217Ter) n.815G>T | gnomAD v4 |
8 | g.18222511A>C | CA370445356 | NAT1 | c.464A>C (p.Glu155Ala) c.650A>C (p.Glu217Ala) n.816A>C | |
8 | g.18222511A>G | CA370445357 | NAT1 | c.464A>G (p.Glu155Gly) c.650A>G (p.Glu217Gly) n.816A>G | |
8 | g.18222511A>T | CA370445358 | NAT1 | c.464A>T (p.Glu155Val) c.650A>T (p.Glu217Val) n.816A>T | |
8 | g.18222512G>A | CA459877872 | NAT1 | c.465G>A (p.Glu155=) c.651G>A (p.Glu217=) n.817G>A | |
8 | g.18222512G>C | CA370445359 | NAT1 | c.465G>C (p.Glu155Asp) c.651G>C (p.Glu217Asp) n.817G>C | gnomAD v4 |
8 | g.18222512G>T | CA370445360 | NAT1 | c.465G>T (p.Glu155Asp) c.651G>T (p.Glu217Asp) n.817G>T | COSMIC COSMIC |
8 | g.18222513A>C | CA370445363 | NAT1 | c.466A>C (p.Asn156His) c.652A>C (p.Asn218His) n.818A>C | |
8 | g.18222513A>G | CA370445361 | NAT1 | c.466A>G (p.Asn156Asp) c.652A>G (p.Asn218Asp) n.818A>G | |
8 | g.18222513A>T | CA370445362 | NAT1 | c.466A>T (p.Asn156Tyr) c.652A>T (p.Asn218Tyr) n.818A>T | |
8 | g.18222514A>C | CA370445364 | NAT1 | c.467A>C (p.Asn156Thr) c.653A>C (p.Asn218Thr) n.819A>C | |
8 | g.18222514A>G | CA370445366 | NAT1 | c.467A>G (p.Asn156Ser) c.653A>G (p.Asn218Ser) n.819A>G | |
8 | g.18222514A>T | CA370445365 | NAT1 | c.467A>T (p.Asn156Ile) c.653A>T (p.Asn218Ile) n.819A>T | |
8 | g.18222515T>A | CA370445367 | NAT1 | c.468T>A (p.Asn156Lys) c.654T>A (p.Asn218Lys) n.820T>A | |
8 | g.18222515T>C | CA173180390 | NAT1 | c.468T>C (p.Asn156=) c.654T>C (p.Asn218=) n.820T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222515T>G | CA370445368 | NAT1 | c.468T>G (p.Asn156Lys) c.654T>G (p.Asn218Lys) n.820T>G | gnomAD v4 |
8 | g.18222515T= | CA1768101190 | NAT1 | c.468T= (p.Asn156=) c.654T= (p.Asn218=) n.820T= | |
8 | g.18222516G>A | CA370445369 | NAT1 | c.469G>A (p.Gly157Arg) c.655G>A (p.Gly219Arg) n.821G>A | COSMIC COSMIC |
8 | g.18222516G>C | CA370445370 | NAT1 | c.469G>C (p.Gly157Arg) c.655G>C (p.Gly219Arg) n.821G>C | |
8 | g.18222516G= | CA1768101191 | NAT1 | c.469G= (p.Gly157=) c.655G= (p.Gly219=) n.821G= | |
8 | g.18222516G>T | CA4651419 | NAT1 | c.469G>T (p.Gly157Ter) c.655G>T (p.Gly219Ter) n.821G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222517G>A | CA370445371 | NAT1 | c.470G>A (p.Gly157Glu) c.656G>A (p.Gly219Glu) n.822G>A | |
8 | g.18222517G>C | CA370445373 | NAT1 | c.470G>C (p.Gly157Ala) c.656G>C (p.Gly219Ala) n.822G>C | |
8 | g.18222517G>T | CA370445372 | NAT1 | c.470G>T (p.Gly157Val) c.656G>T (p.Gly219Val) n.822G>T | gnomAD v4 |
8 | g.18222518A>C | CA459877889 | NAT1 | c.471A>C (p.Gly157=) c.657A>C (p.Gly219=) n.823A>C | |
8 | g.18222518A>G | CA459877891 | NAT1 | c.471A>G (p.Gly157=) c.657A>G (p.Gly219=) n.823A>G | |
8 | g.18222518A>T | CA459877892 | NAT1 | c.471A>T (p.Gly157=) c.657A>T (p.Gly219=) n.823A>T | |
8 | g.18222519T>A | CA370445374 | NAT1 | c.472T>A (p.Phe158Ile) c.658T>A (p.Phe220Ile) n.824T>A | |
8 | g.18222519T>C | CA4651420 | NAT1 | c.472T>C (p.Phe158Leu) c.658T>C (p.Phe220Leu) n.824T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222519T>G | CA370445375 | NAT1 | c.472T>G (p.Phe158Val) c.658T>G (p.Phe220Val) n.824T>G | |
8 | g.18222519T= | CA1768101192 | NAT1 | c.472T= (p.Phe158=) c.658T= (p.Phe220=) n.824T= | |
8 | g.18222520T>A | CA370445376 | NAT1 | c.473T>A (p.Phe158Tyr) c.659T>A (p.Phe220Tyr) n.825T>A | dbSNP gnomAD v4 |
8 | g.18222520T>C | CA370445377 | NAT1 | c.473T>C (p.Phe158Ser) c.659T>C (p.Phe220Ser) n.825T>C | |
8 | g.18222520T>G | CA370445378 | NAT1 | c.473T>G (p.Phe158Cys) c.659T>G (p.Phe220Cys) n.825T>G | |
8 | g.18222520T= | CA1768101193 | NAT1 | c.473T= (p.Phe158=) c.659T= (p.Phe220=) n.825T= | |
8 | g.18222521C>A | CA370445379 | NAT1 | c.474C>A (p.Phe158Leu) c.660C>A (p.Phe220Leu) n.826C>A | |
8 | g.18222521C= | CA1768101194 | NAT1 | c.474C= (p.Phe158=) c.660C= (p.Phe220=) n.826C= | |
8 | g.18222521C>G | CA370445380 | NAT1 | c.474C>G (p.Phe158Leu) c.660C>G (p.Phe220Leu) n.826C>G | dbSNP gnomAD v2 gnomAD v4 |
8 | g.18222521C>T | CA459877898 | NAT1 | c.474C>T (p.Phe158=) c.660C>T (p.Phe220=) n.826C>T | |
8 | g.18222522T>A | CA370445381 | NAT1 | c.475T>A (p.Trp159Arg) c.661T>A (p.Trp221Arg) n.827T>A | |
8 | g.18222522T>C | CA370445382 | NAT1 | c.475T>C (p.Trp159Arg) c.661T>C (p.Trp221Arg) n.827T>C | dbSNP |
8 | g.18222522T>G | CA370445383 | NAT1 | c.475T>G (p.Trp159Gly) c.661T>G (p.Trp221Gly) n.827T>G | |
8 | g.18222522T= | CA1768101195 | NAT1 | c.475T= (p.Trp159=) c.661T= (p.Trp221=) n.827T= | |
8 | g.18222523G>A | CA370445386 | NAT1 | c.476G>A (p.Trp159Ter) c.662G>A (p.Trp221Ter) n.828G>A | |
8 | g.18222523G>C | CA370445384 | NAT1 | c.476G>C (p.Trp159Ser) c.662G>C (p.Trp221Ser) n.828G>C | |
8 | g.18222523G= | CA1768101196 | NAT1 | c.476G= (p.Trp159=) c.662G= (p.Trp221=) n.828G= | |
8 | g.18222523G>T | CA370445385 | NAT1 | c.476G>T (p.Trp159Leu) c.662G>T (p.Trp221Leu) n.828G>T | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222524G>A | CA370445387 | NAT1 | c.477G>A (p.Trp159Ter) c.663G>A (p.Trp221Ter) n.829G>A | dbSNP |
8 | g.18222524G>C | CA4651421 | NAT1 | c.477G>C (p.Trp159Cys) c.663G>C (p.Trp221Cys) n.829G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222524G= | CA1768101197 | NAT1 | c.477G= (p.Trp159=) c.663G= (p.Trp221=) n.829G= | |
8 | g.18222524G>T | CA4651422 | NAT1 | c.477G>T (p.Trp159Cys) c.663G>T (p.Trp221Cys) n.829G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222525T>A | CA370445388 | NAT1 | c.478T>A (p.Tyr160Asn) c.664T>A (p.Tyr222Asn) n.830T>A | |
8 | g.18222525T>C | CA370445389 | NAT1 | c.478T>C (p.Tyr160His) c.664T>C (p.Tyr222His) n.830T>C | |
8 | g.18222525T>G | CA370445390 | NAT1 | c.478T>G (p.Tyr160Asp) c.664T>G (p.Tyr222Asp) n.830T>G | |
8 | g.18222526A= | CA1768101198 | NAT1 | c.479A= (p.Tyr160=) c.665A= (p.Tyr222=) n.831A= | |
8 | g.18222526A>C | CA370445391 | NAT1 | c.479A>C (p.Tyr160Ser) c.665A>C (p.Tyr222Ser) n.831A>C | |
8 | g.18222526A>G | CA370445392 | NAT1 | c.479A>G (p.Tyr160Cys) c.665A>G (p.Tyr222Cys) n.831A>G | dbSNP gnomAD v4 |
8 | g.18222526A>T | CA370445393 | NAT1 | c.479A>T (p.Tyr160Phe) c.665A>T (p.Tyr222Phe) n.831A>T | |
8 | g.18222527T>A | CA370445394 | NAT1 | c.480T>A (p.Tyr160Ter) c.666T>A (p.Tyr222Ter) n.832T>A | |
8 | g.18222527T>C | CA459877601 | NAT1 | c.480T>C (p.Tyr160=) c.666T>C (p.Tyr222=) n.832T>C | gnomAD v4 |
8 | g.18222527T>G | CA370445395 | NAT1 | c.480T>G (p.Tyr160Ter) c.666T>G (p.Tyr222Ter) n.832T>G | |
8 | g.18222528C>A | CA370445396 | NAT1 | c.481C>A (p.Leu161Ile) c.667C>A (p.Leu223Ile) n.833C>A | |
8 | g.18222528C>G | CA370445397 | NAT1 | c.481C>G (p.Leu161Val) c.667C>G (p.Leu223Val) n.833C>G | |
8 | g.18222528C>T | CA459877603 | NAT1 | c.481C>T (p.Leu161=) c.667C>T (p.Leu223=) n.833C>T | |
8 | g.18222529T>A | CA370445398 | NAT1 | c.482T>A (p.Leu161Gln) c.668T>A (p.Leu223Gln) n.834T>A | |
8 | g.18222529T>C | CA4651423 | NAT1 | c.482T>C (p.Leu161Pro) c.668T>C (p.Leu223Pro) n.834T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222529T>G | CA370445399 | NAT1 | c.482T>G (p.Leu161Arg) c.668T>G (p.Leu223Arg) n.834T>G | |
8 | g.18222529T= | CA1768101199 | NAT1 | c.482T= (p.Leu161=) c.668T= (p.Leu223=) n.834T= | |
8 | g.18222530A= | CA1768101200 | NAT1 | c.483A= (p.Leu161=) c.669A= (p.Leu223=) n.835A= | |
8 | g.18222530A>C | CA173180397 | NAT1 | c.483A>C (p.Leu161=) c.669A>C (p.Leu223=) n.835A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.18222530A>G | CA459877606 | NAT1 | c.483A>G (p.Leu161=) c.669A>G (p.Leu223=) n.835A>G | |
8 | g.18222530A>T | CA459877605 | NAT1 | c.483A>T (p.Leu161=) c.669A>T (p.Leu223=) n.835A>T | |
8 | g.18222531G>A | CA370445400 | NAT1 | c.484G>A (p.Asp162Asn) c.670G>A (p.Asp224Asn) n.836G>A | |
8 | g.18222531G>C | CA173180399 | NAT1 | c.484G>C (p.Asp162His) c.670G>C (p.Asp224His) n.836G>C | dbSNP |
8 | g.18222531G= | CA1768101201 | NAT1 | c.484G= (p.Asp162=) c.670G= (p.Asp224=) n.836G= | |
8 | g.18222531G>T | CA370445401 | NAT1 | c.484G>T (p.Asp162Tyr) c.670G>T (p.Asp224Tyr) n.836G>T | |
8 | g.18222532A>C | CA370445402 | NAT1 | c.485A>C (p.Asp162Ala) c.671A>C (p.Asp224Ala) n.837A>C | |
8 | g.18222532A>G | CA370445403 | NAT1 | c.485A>G (p.Asp162Gly) c.671A>G (p.Asp224Gly) n.837A>G | |
8 | g.18222532A>T | CA370445404 | NAT1 | c.485A>T (p.Asp162Val) c.671A>T (p.Asp224Val) n.837A>T | |
8 | g.18222533C>A | CA370445405 | NAT1 | c.486C>A (p.Asp162Glu) c.672C>A (p.Asp224Glu) n.838C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222533C= | CA1768101202 | NAT1 | c.486C= (p.Asp162=) c.672C= (p.Asp224=) n.838C= | |
8 | g.18222533C>G | CA370445406 | NAT1 | c.486C>G (p.Asp162Glu) c.672C>G (p.Asp224Glu) n.838C>G | COSMIC COSMIC |
8 | g.18222533C>T | CA459877609 | NAT1 | c.486C>T (p.Asp162=) c.672C>T (p.Asp224=) n.838C>T | dbSNP gnomAD v4 |
8 | g.18222534C>A | CA370445409 | NAT1 | c.487C>A (p.Gln163Lys) c.673C>A (p.Gln225Lys) n.839C>A | |
8 | g.18222534C>G | CA370445407 | NAT1 | c.487C>G (p.Gln163Glu) c.673C>G (p.Gln225Glu) n.839C>G | |
8 | g.18222534C>T | CA370445408 | NAT1 | c.487C>T (p.Gln163Ter) c.673C>T (p.Gln225Ter) n.839C>T | gnomAD v4 |
8 | g.18222535A>C | CA370445410 | NAT1 | c.488A>C (p.Gln163Pro) c.674A>C (p.Gln225Pro) n.840A>C | gnomAD v4 |
8 | g.18222535A>G | CA370445411 | NAT1 | c.488A>G (p.Gln163Arg) c.674A>G (p.Gln225Arg) n.840A>G | |
8 | g.18222535A>T | CA370445412 | NAT1 | c.488A>T (p.Gln163Leu) c.674A>T (p.Gln225Leu) n.840A>T | |
8 | g.18222536A>C | CA370445413 | NAT1 | c.489A>C (p.Gln163His) c.675A>C (p.Gln225His) n.841A>C | |
8 | g.18222536A>G | CA459877610 | NAT1 | c.489A>G (p.Gln163=) c.675A>G (p.Gln225=) n.841A>G | |
8 | g.18222536A>T | CA370445414 | NAT1 | c.489A>T (p.Gln163His) c.675A>T (p.Gln225His) n.841A>T | |
8 | g.18222537A>C | CA370445415 | NAT1 | c.490A>C (p.Ile164Leu) c.676A>C (p.Ile226Leu) n.842A>C | gnomAD v4 |
8 | g.18222537A>G | CA370445416 | NAT1 | c.490A>G (p.Ile164Val) c.676A>G (p.Ile226Val) n.842A>G | gnomAD v4 |
8 | g.18222537A>T | CA370445417 | NAT1 | c.490A>T (p.Ile164Phe) c.676A>T (p.Ile226Phe) n.842A>T | gnomAD v4 |
8 | g.18222538T>A | CA370445418 | NAT1 | c.491T>A (p.Ile164Asn) c.677T>A (p.Ile226Asn) n.843T>A | gnomAD v4 |
8 | g.18222538T>C | CA370445419 | NAT1 | c.491T>C (p.Ile164Thr) c.677T>C (p.Ile226Thr) n.843T>C | dbSNP |
8 | g.18222538T>G | CA370445420 | NAT1 | c.491T>G (p.Ile164Ser) c.677T>G (p.Ile226Ser) n.843T>G | |
8 | g.18222538T= | CA1768101203 | NAT1 | c.491T= (p.Ile164=) c.677T= (p.Ile226=) n.843T= | |
8 | g.18222539C>A | CA459877611 | NAT1 | c.492C>A (p.Ile164=) c.678C>A (p.Ile226=) n.844C>A | |
8 | g.18222539C>G | CA370445421 | NAT1 | c.492C>G (p.Ile164Met) c.678C>G (p.Ile226Met) n.844C>G | |
8 | g.18222539C>T | CA459877612 | NAT1 | c.492C>T (p.Ile164=) c.678C>T (p.Ile226=) n.844C>T | |
8 | g.18222540A>C | CA459877613 | NAT1 | c.493A>C (p.Arg165=) c.679A>C (p.Arg227=) n.845A>C | |
8 | g.18222540A>G | CA370445423 | NAT1 | c.493A>G (p.Arg165Gly) c.679A>G (p.Arg227Gly) n.845A>G | |
8 | g.18222540A>T | CA370445422 | NAT1 | c.493A>T (p.Arg165Ter) c.679A>T (p.Arg227Ter) n.845A>T | |
8 | g.18222541G>A | CA4651424 | NAT1 | c.494G>A (p.Arg165Lys) c.680G>A (p.Arg227Lys) n.846G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.18222541G>C | CA370445425 | NAT1 | c.494G>C (p.Arg165Thr) c.680G>C (p.Arg227Thr) n.846G>C | |
8 | g.18222541G= | CA1768101204 | NAT1 | c.494G= (p.Arg165=) c.680G= (p.Arg227=) n.846G= | |
8 | g.18222541G>T | CA370445424 | NAT1 | c.494G>T (p.Arg165Ile) c.680G>T (p.Arg227Ile) n.846G>T | |
8 | g.18222542A>C | CA370445426 | NAT1 | c.495A>C (p.Arg165Ser) c.681A>C (p.Arg227Ser) n.847A>C | |
8 | g.18222542A>G | CA459877615 | NAT1 | c.495A>G (p.Arg165=) c.681A>G (p.Arg227=) n.847A>G | |
8 | g.18222542A>T | CA370445427 | NAT1 | c.495A>T (p.Arg165Ser) c.681A>T (p.Arg227Ser) n.847A>T | |
8 | g.18222543A>C | CA459877616 | NAT1 | c.496A>C (p.Arg166=) c.682A>C (p.Arg228=) n.848A>C | |
8 | g.18222543A>G | CA370445428 | NAT1 | c.496A>G (p.Arg166Gly) c.682A>G (p.Arg228Gly) n.848A>G | |
8 | g.18222543A>T | CA370445429 | NAT1 | c.496A>T (p.Arg166Trp) c.682A>T (p.Arg228Trp) n.848A>T | |
8 | g.18222544G>A | CA173180404 | NAT1 | c.497G>A (p.Arg166Lys) c.683G>A (p.Arg228Lys) n.849G>A | dbSNP gnomAD v4 |
8 | g.18222544G>C | CA173180406 | NAT1 | c.497G>C (p.Arg166Thr) c.683G>C (p.Arg228Thr) n.849G>C | dbSNP |
8 | g.18222544G= | CA1768101205 | NAT1 | c.497G= (p.Arg166=) c.683G= (p.Arg228=) n.849G= | |
8 | g.18222544G>T | CA370445430 | NAT1 | c.497G>T (p.Arg166Met) c.683G>T (p.Arg228Met) n.849G>T | |
8 | g.18222544_18222546delinsCCC | CA173180403 | NAT1 | c.497_499delinsCCC (p.Arg166_Glu167delinsThrGln) c.683_685delinsCCC (p.Arg228_Glu229delinsThrGln) n.849_851delinsCCC | dbSNP |
8 | g.18222544_18222546delinsGGG | CA1768101206 | NAT1 | c.497_499delinsGGG (p.Arg166=) c.683_685delinsGGG (p.Arg228=) n.849_851delinsGGG |