Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.24800049_24800087del | CA2876294 | SOD3 | c.528_566del (p.Ala177_Arg189del) n.718_756del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800081T>A | CA356640085 | SOD3 | c.560T>A (p.Leu187Gln) n.750T>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800081T>C | CA356640087 | SOD3 | c.560T>C (p.Leu187Pro) n.750T>C | gnomAD v4 |
4 | g.24800081T>G | CA356640088 | SOD3 | c.560T>G (p.Leu187Arg) n.750T>G | |
4 | g.24800081T= | CA1445033086 | SOD3 | c.560T= (p.Leu187=) n.750T= | |
4 | g.24800082G>A | CA438902112 | SOD3 | c.561G>A (p.Leu187=) n.751G>A | gnomAD v4 |
4 | g.24800082G>C | CA438902114 | SOD3 | c.561G>C (p.Leu187=) n.751G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800082G= | CA1445033087 | SOD3 | c.561G= (p.Leu187=) n.751G= | |
4 | g.24800082G>T | CA438902113 | SOD3 | c.561G>T (p.Leu187=) n.751G>T | gnomAD v4 |
4 | g.24800084del | CA2670208906 | SOD3 | c.563del (p.Gly188AlafsTer?) n.753del | gnomAD v4 |
4 | g.24800083G>A | CA356640090 | SOD3 | c.562G>A (p.Gly188Ser) n.752G>A | gnomAD v4 |
4 | g.24800083G>C | CA356640092 | SOD3 | c.562G>C (p.Gly188Arg) n.752G>C | |
4 | g.24800083G>T | CA356640094 | SOD3 | c.562G>T (p.Gly188Cys) n.752G>T | |
4 | g.24800084G>A | CA356640101 | SOD3 | c.563G>A (p.Gly188Asp) n.753G>A | |
4 | g.24800084G>C | CA356640099 | SOD3 | c.563G>C (p.Gly188Ala) n.753G>C | |
4 | g.24800084G>T | CA356640098 | SOD3 | c.563G>T (p.Gly188Val) n.753G>T | gnomAD v4 |
4 | g.24800085C>A | CA438902116 | SOD3 | c.564C>A (p.Gly188=) n.754C>A | gnomAD v4 |
4 | g.24800085C>G | CA438902117 | SOD3 | c.564C>G (p.Gly188=) n.754C>G | |
4 | g.24800085C>T | CA438902118 | SOD3 | c.564C>T (p.Gly188=) n.754C>T | gnomAD v4 |
4 | g.24800086C>A | CA356640103 | SOD3 | c.565C>A (p.Arg189Ser) n.755C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800086C= | CA1445033090 | SOD3 | c.565C= (p.Arg189=) n.755C= | |
4 | g.24800086C>G | CA356640105 | SOD3 | c.565C>G (p.Arg189Gly) n.755C>G | gnomAD v4 |
4 | g.24800086C>T | CA356640104 | SOD3 | c.565C>T (p.Arg189Cys) n.755C>T | gnomAD v4 |
4 | g.24800087G>A | CA356640108 | SOD3 | c.566G>A (p.Arg189His) n.756G>A | dbSNP gnomAD v4 |
4 | g.24800087G>C | CA356640111 | SOD3 | c.566G>C (p.Arg189Pro) n.756G>C | |
4 | g.24800087G= | CA1445033092 | SOD3 | c.566G= (p.Arg189=) n.756G= | |
4 | g.24800087G>T | CA2876300 | SOD3 | c.566G>T (p.Arg189Leu) n.756G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800088C>A | CA438902119 | SOD3 | c.567C>A (p.Arg189=) n.757C>A | gnomAD v4 |
4 | g.24800088C= | CA1445033095 | SOD3 | c.567C= (p.Arg189=) n.757C= | |
4 | g.24800088C>G | CA438902120 | SOD3 | c.567C>G (p.Arg189=) n.757C>G | |
4 | g.24800088C>T | CA438902121 | SOD3 | c.567C>T (p.Arg189=) n.757C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800089G>A | CA356640114 | SOD3 | c.568G>A (p.Gly190Ser) n.758G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800089G>C | CA356640116 | SOD3 | c.568G>C (p.Gly190Arg) n.758G>C | |
4 | g.24800089G= | CA1445033098 | SOD3 | c.568G= (p.Gly190=) n.758G= | |
4 | g.24800089G>T | CA356640121 | SOD3 | c.568G>T (p.Gly190Cys) n.758G>T | gnomAD v4 |
4 | g.24800090del | CA2760767575 | SOD3 | c.569del (p.Gly190AlafsTer?) n.759del | |
4 | g.24800090G>A | CA356640123 | SOD3 | c.569G>A (p.Gly190Asp) n.759G>A | gnomAD v4 |
4 | g.24800090G>C | CA356640125 | SOD3 | c.569G>C (p.Gly190Ala) n.759G>C | |
4 | g.24800090G>T | CA356640126 | SOD3 | c.569G>T (p.Gly190Val) n.759G>T | gnomAD v4 |
4 | g.24800091C>A | CA438902122 | SOD3 | c.570C>A (p.Gly190=) n.760C>A | gnomAD v4 |
4 | g.24800091C= | CA1445033101 | SOD3 | c.570C= (p.Gly190=) n.760C= | |
4 | g.24800091C>G | CA438902123 | SOD3 | c.570C>G (p.Gly190=) n.760C>G | gnomAD v4 |
4 | g.24800091C>T | CA438902124 | SOD3 | c.570C>T (p.Gly190=) n.760C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800092G>A | CA356640128 | SOD3 | c.571G>A (p.Gly191Ser) n.761G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800092G>C | CA356640131 | SOD3 | c.571G>C (p.Gly191Arg) n.761G>C | |
4 | g.24800092G>T | CA356640133 | SOD3 | c.571G>T (p.Gly191Cys) n.761G>T | gnomAD v4 |
4 | g.24800092_24800093del | CA2760767576 | SOD3 | c.571_572del (p.Gly191GlnfsTer?) n.761_762del | |
4 | g.24800093G>A | CA356640135 | SOD3 | c.572G>A (p.Gly191Asp) n.762G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800093G>C | CA356640137 | SOD3 | c.572G>C (p.Gly191Ala) n.762G>C | |
4 | g.24800093G= | CA1445033107 | SOD3 | c.572G= (p.Gly191=) n.762G= | |
4 | g.24800093G>T | CA356640138 | SOD3 | c.572G>T (p.Gly191Val) n.762G>T | gnomAD v4 |
4 | g.24800094C>A | CA438902125 | SOD3 | c.573C>A (p.Gly191=) n.763C>A | gnomAD v4 |
4 | g.24800094C>G | CA438902127 | SOD3 | c.573C>G (p.Gly191=) n.763C>G | |
4 | g.24800094C>T | CA438902126 | SOD3 | c.573C>T (p.Gly191=) n.763C>T | gnomAD v4 |
4 | g.24800095A= | CA1445033111 | SOD3 | c.574A= (p.Asn192=) n.764A= | |
4 | g.24800095A>C | CA356640141 | SOD3 | c.574A>C (p.Asn192His) n.764A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800095A>G | CA356640139 | SOD3 | c.574A>G (p.Asn192Asp) n.764A>G | gnomAD v4 |
4 | g.24800095A>T | CA356640140 | SOD3 | c.574A>T (p.Asn192Tyr) n.764A>T | |
4 | g.24800096A>C | CA356640142 | SOD3 | c.575A>C (p.Asn192Thr) n.765A>C | |
4 | g.24800096A>G | CA356640143 | SOD3 | c.575A>G (p.Asn192Ser) n.765A>G | gnomAD v4 |
4 | g.24800096A>T | CA356640144 | SOD3 | c.575A>T (p.Asn192Ile) n.765A>T | gnomAD v4 |
4 | g.24800097C>A | CA356640145 | SOD3 | c.576C>A (p.Asn192Lys) n.766C>A | gnomAD v4 |
4 | g.24800097C= | CA1445033114 | SOD3 | c.576C= (p.Asn192=) n.766C= | |
4 | g.24800097C>G | CA356640146 | SOD3 | c.576C>G (p.Asn192Lys) n.766C>G | dbSNP gnomAD v4 |
4 | g.24800097C>T | CA438902129 | SOD3 | c.576C>T (p.Asn192=) n.766C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800098C>A | CA356640147 | SOD3 | c.577C>A (p.Gln193Lys) n.767C>A | gnomAD v4 |
4 | g.24800098C>G | CA356640149 | SOD3 | c.577C>G (p.Gln193Glu) n.767C>G | gnomAD v4 |
4 | g.24800098C>T | CA356640150 | SOD3 | c.577C>T (p.Gln193Ter) n.767C>T | gnomAD v4 |
4 | g.24800099A>C | CA356640152 | SOD3 | c.578A>C (p.Gln193Pro) n.768A>C | |
4 | g.24800099A>G | CA356640153 | SOD3 | c.578A>G (p.Gln193Arg) n.768A>G | gnomAD v4 |
4 | g.24800099A>T | CA356640155 | SOD3 | c.578A>T (p.Gln193Leu) n.768A>T | |
4 | g.24800100G>A | CA438902130 | SOD3 | c.579G>A (p.Gln193=) n.769G>A | gnomAD v4 |
4 | g.24800100G>C | CA356640157 | SOD3 | c.579G>C (p.Gln193His) n.769G>C | |
4 | g.24800100G>T | CA356640159 | SOD3 | c.579G>T (p.Gln193His) n.769G>T | gnomAD v4 |
4 | g.24800101G>A | CA356640162 | SOD3 | c.580G>A (p.Ala194Thr) n.770G>A | dbSNP gnomAD v4 |
4 | g.24800101G>C | CA356640163 | SOD3 | c.580G>C (p.Ala194Pro) n.770G>C | gnomAD v4 |
4 | g.24800101G>T | CA356640164 | SOD3 | c.580G>T (p.Ala194Ser) n.770G>T | gnomAD v4 |
4 | g.24800102C>A | CA356640167 | SOD3 | c.581C>A (p.Ala194Asp) n.771C>A | gnomAD v4 |
4 | g.24800102C>G | CA356640169 | SOD3 | c.581C>G (p.Ala194Gly) n.771C>G | gnomAD v4 |
4 | g.24800102C>T | CA356640171 | SOD3 | c.581C>T (p.Ala194Val) n.771C>T | gnomAD v4 |
4 | g.24800103C>A | CA438902136 | SOD3 | c.582C>A (p.Ala194=) n.772C>A | gnomAD v4 |
4 | g.24800103C>G | CA438902135 | SOD3 | c.582C>G (p.Ala194=) n.772C>G | |
4 | g.24800103C>T | CA438902133 | SOD3 | c.582C>T (p.Ala194=) n.772C>T | gnomAD v4 |
4 | g.24800104A= | CA1445033116 | SOD3 | c.583A= (p.Ser195=) n.773A= | |
4 | g.24800104A>C | CA356640176 | SOD3 | c.583A>C (p.Ser195Arg) n.773A>C | |
4 | g.24800104A>G | CA94297242 | SOD3 | c.583A>G (p.Ser195Gly) n.773A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800104A>T | CA356640174 | SOD3 | c.583A>T (p.Ser195Cys) n.773A>T | |
4 | g.24800105G>A | CA356640178 | SOD3 | c.584G>A (p.Ser195Asn) n.774G>A | dbSNP gnomAD v4 |
4 | g.24800105G>C | CA356640180 | SOD3 | c.584G>C (p.Ser195Thr) n.774G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800105G= | CA1445033118 | SOD3 | c.584G= (p.Ser195=) n.774G= | |
4 | g.24800105G>T | CA356640182 | SOD3 | c.584G>T (p.Ser195Ile) n.774G>T | gnomAD v4 |
4 | g.24800106C>A | CA356640184 | SOD3 | c.585C>A (p.Ser195Arg) n.775C>A | gnomAD v4 |
4 | g.24800106C= | CA1445033123 | SOD3 | c.585C= (p.Ser195=) n.775C= | |
4 | g.24800106C>G | CA356640186 | SOD3 | c.585C>G (p.Ser195Arg) n.775C>G | gnomAD v4 |
4 | g.24800106C>T | CA94297243 | SOD3 | c.585C>T (p.Ser195=) n.775C>T | dbSNP gnomAD v4 |
4 | g.24800107del | CA2670208907 | SOD3 | c.586del (p.Val196TrpfsTer?) n.776del | gnomAD v4 |
4 | g.24800107G>A | CA94297244 | SOD3 | c.586G>A (p.Val196Met) n.776G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800107G>C | CA356640190 | SOD3 | c.586G>C (p.Val196Leu) n.776G>C | |
4 | g.24800107G= | CA1445033126 | SOD3 | c.586G= (p.Val196=) n.776G= | |
4 | g.24800107G>T | CA356640189 | SOD3 | c.586G>T (p.Val196Leu) n.776G>T | gnomAD v4 |
4 | g.24800108T>A | CA356640193 | SOD3 | c.587T>A (p.Val196Glu) n.777T>A | |
4 | g.24800108T>C | CA356640194 | SOD3 | c.587T>C (p.Val196Ala) n.777T>C | gnomAD v4 |
4 | g.24800108T>G | CA356640197 | SOD3 | c.587T>G (p.Val196Gly) n.777T>G | gnomAD v4 |
4 | g.24800109G>A | CA438902139 | SOD3 | c.588G>A (p.Val196=) n.778G>A | gnomAD v4 |
4 | g.24800109G>C | CA438902141 | SOD3 | c.588G>C (p.Val196=) n.778G>C | |
4 | g.24800109G>T | CA438902143 | SOD3 | c.588G>T (p.Val196=) n.778G>T | gnomAD v4 |
4 | g.24800110del | CA2670208908 | SOD3 | c.589del (p.Glu197ArgfsTer?) n.779del | gnomAD v4 |
4 | g.24800110G>A | CA356640199 | SOD3 | c.589G>A (p.Glu197Lys) n.779G>A | ClinVar gnomAD v4 |
4 | g.24800110G>C | CA356640201 | SOD3 | c.589G>C (p.Glu197Gln) n.779G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800110G= | CA1445033131 | SOD3 | c.589G= (p.Glu197=) n.779G= | |
4 | g.24800110G>T | CA356640202 | SOD3 | c.589G>T (p.Glu197Ter) n.779G>T | gnomAD v4 |
4 | g.24800111A>C | CA356640204 | SOD3 | c.590A>C (p.Glu197Ala) n.780A>C | |
4 | g.24800111A>G | CA356640206 | SOD3 | c.590A>G (p.Glu197Gly) n.780A>G | gnomAD v4 |
4 | g.24800111A>T | CA356640208 | SOD3 | c.590A>T (p.Glu197Val) n.780A>T | |
4 | g.24800112G>A | CA438902145 | SOD3 | c.591G>A (p.Glu197=) n.781G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800112G>C | CA356640210 | SOD3 | c.591G>C (p.Glu197Asp) n.781G>C | dbSNP |
4 | g.24800112G= | CA1445033135 | SOD3 | c.591G= (p.Glu197=) n.781G= | |
4 | g.24800112G>T | CA356640212 | SOD3 | c.591G>T (p.Glu197Asp) n.781G>T | gnomAD v4 |
4 | g.24800113A>C | CA356640219 | SOD3 | c.592A>C (p.Asn198His) n.782A>C | |
4 | g.24800113A>G | CA356640217 | SOD3 | c.592A>G (p.Asn198Asp) n.782A>G | gnomAD v4 |
4 | g.24800113A>T | CA356640214 | SOD3 | c.592A>T (p.Asn198Tyr) n.782A>T | |
4 | g.24800114A>C | CA356640223 | SOD3 | c.593A>C (p.Asn198Thr) n.783A>C | dbSNP |
4 | g.24800114A>G | CA356640221 | SOD3 | c.593A>G (p.Asn198Ser) n.783A>G | gnomAD v4 |
4 | g.24800114A>T | CA356640225 | SOD3 | c.593A>T (p.Asn198Ile) n.783A>T | |
4 | g.24800115C>A | CA356640228 | SOD3 | c.594C>A (p.Asn198Lys) n.784C>A | gnomAD v4 |
4 | g.24800115C= | CA1445033137 | SOD3 | c.594C= (p.Asn198=) n.784C= | |
4 | g.24800115C>G | CA356640229 | SOD3 | c.594C>G (p.Asn198Lys) n.784C>G | gnomAD v4 |
4 | g.24800115C>T | CA438902152 | SOD3 | c.594C>T (p.Asn198=) n.784C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800116G>A | CA356640232 | SOD3 | c.595G>A (p.Gly199Arg) n.785G>A | dbSNP gnomAD v4 |
4 | g.24800116G>C | CA356640234 | SOD3 | c.595G>C (p.Gly199Arg) n.785G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800116G= | CA1445033139 | SOD3 | c.595G= (p.Gly199=) n.785G= | |
4 | g.24800116G>T | CA356640235 | SOD3 | c.595G>T (p.Gly199Trp) n.785G>T | gnomAD v4 |
4 | g.24800117G>A | CA356640239 | SOD3 | c.596G>A (p.Gly199Glu) n.786G>A | gnomAD v4 |
4 | g.24800117G>C | CA356640240 | SOD3 | c.596G>C (p.Gly199Ala) n.786G>C | gnomAD v4 |
4 | g.24800117G>T | CA356640242 | SOD3 | c.596G>T (p.Gly199Val) n.786G>T | gnomAD v4 |
4 | g.24800118G>A | CA438902158 | SOD3 | c.597G>A (p.Gly199=) n.787G>A | gnomAD v4 |
4 | g.24800118G>C | CA438902157 | SOD3 | c.597G>C (p.Gly199=) n.787G>C | |
4 | g.24800118G>T | CA438902156 | SOD3 | c.597G>T (p.Gly199=) n.787G>T | gnomAD v4 |
4 | g.24800119A>C | CA356640244 | SOD3 | c.598A>C (p.Asn200His) n.788A>C | gnomAD v4 |
4 | g.24800119A>G | CA356640245 | SOD3 | c.598A>G (p.Asn200Asp) n.788A>G | gnomAD v4 |
4 | g.24800119A>T | CA356640246 | SOD3 | c.598A>T (p.Asn200Tyr) n.788A>T | |
4 | g.24800120A>C | CA356640251 | SOD3 | c.599A>C (p.Asn200Thr) n.789A>C | |
4 | g.24800120A>G | CA356640249 | SOD3 | c.599A>G (p.Asn200Ser) n.789A>G | gnomAD v4 |
4 | g.24800120A>T | CA356640247 | SOD3 | c.599A>T (p.Asn200Ile) n.789A>T | |
4 | g.24800121C>A | CA94297245 | SOD3 | c.600C>A (p.Asn200Lys) n.790C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800121C= | CA1445033142 | SOD3 | c.600C= (p.Asn200=) n.790C= | |
4 | g.24800121C>G | CA356640254 | SOD3 | c.600C>G (p.Asn200Lys) n.790C>G | |
4 | g.24800121C>T | CA438901609 | SOD3 | c.600C>T (p.Asn200=) n.790C>T | dbSNP gnomAD v4 |
4 | g.24800122G>A | CA356640256 | SOD3 | c.601G>A (p.Ala201Thr) n.791G>A | gnomAD v4 |
4 | g.24800122G>C | CA356640258 | SOD3 | c.601G>C (p.Ala201Pro) n.791G>C | gnomAD v4 |
4 | g.24800122G>T | CA356640260 | SOD3 | c.601G>T (p.Ala201Ser) n.791G>T | gnomAD v4 |
4 | g.24800123C>A | CA356640262 | SOD3 | c.602C>A (p.Ala201Glu) n.792C>A | gnomAD v4 |
4 | g.24800123C= | CA1445033145 | SOD3 | c.602C= (p.Ala201=) n.792C= | |
4 | g.24800123C>G | CA356640264 | SOD3 | c.602C>G (p.Ala201Gly) n.792C>G | |
4 | g.24800123C>T | CA356640265 | SOD3 | c.602C>T (p.Ala201Val) n.792C>T | dbSNP gnomAD v4 |
4 | g.24800124G>A | CA2876301 | SOD3 | c.603G>A (p.Ala201=) n.793G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800124G>C | CA438901610 | SOD3 | c.603G>C (p.Ala201=) n.793G>C | |
4 | g.24800124G= | CA1445033147 | SOD3 | c.603G= (p.Ala201=) n.793G= | |
4 | g.24800124G>T | CA438901611 | SOD3 | c.603G>T (p.Ala201=) n.793G>T | gnomAD v4 |
4 | g.24800125G>A | CA356640267 | SOD3 | c.604G>A (p.Gly202Ser) n.794G>A | gnomAD v4 |
4 | g.24800125G>C | CA356640269 | SOD3 | c.604G>C (p.Gly202Arg) n.794G>C | |
4 | g.24800125G>T | CA356640271 | SOD3 | c.604G>T (p.Gly202Cys) n.794G>T | gnomAD v4 |
4 | g.24800126G>A | CA356640275 | SOD3 | c.605G>A (p.Gly202Asp) n.795G>A | gnomAD v4 |
4 | g.24800126G>C | CA356640277 | SOD3 | c.605G>C (p.Gly202Ala) n.795G>C | |
4 | g.24800126G>T | CA356640273 | SOD3 | c.605G>T (p.Gly202Val) n.795G>T | gnomAD v4 |
4 | g.24800127C>A | CA438901614 | SOD3 | c.606C>A (p.Gly202=) n.796C>A | gnomAD v4 |
4 | g.24800127C>G | CA438901615 | SOD3 | c.606C>G (p.Gly202=) n.796C>G | |
4 | g.24800127C>T | CA438901616 | SOD3 | c.606C>T (p.Gly202=) n.796C>T | gnomAD v4 |
4 | g.24800128C>A | CA438901617 | SOD3 | c.607C>A (p.Arg203=) n.797C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800128C= | CA1445033149 | SOD3 | c.607C= (p.Arg203=) n.797C= | |
4 | g.24800128C>G | CA356640279 | SOD3 | c.607C>G (p.Arg203Gly) n.797C>G | dbSNP gnomAD v4 |
4 | g.24800128C>T | CA94297246 | SOD3 | c.607C>T (p.Arg203Trp) n.797C>T | dbSNP gnomAD v4 |
4 | g.24800129G>A | CA356640281 | SOD3 | c.608G>A (p.Arg203Gln) n.798G>A | gnomAD v4 |
4 | g.24800129G>C | CA356640282 | SOD3 | c.608G>C (p.Arg203Pro) n.798G>C | |
4 | g.24800129G>T | CA356640284 | SOD3 | c.608G>T (p.Arg203Leu) n.798G>T | gnomAD v4 |
4 | g.24800130G>A | CA438901621 | SOD3 | c.609G>A (p.Arg203=) n.799G>A | gnomAD v4 |
4 | g.24800130G>C | CA438901622 | SOD3 | c.609G>C (p.Arg203=) n.799G>C | |
4 | g.24800130G>T | CA438901623 | SOD3 | c.609G>T (p.Arg203=) n.799G>T | gnomAD v4 |
4 | g.24800131C>A | CA438901624 | SOD3 | c.610C>A (p.Arg204=) n.800C>A | dbSNP gnomAD v4 |
4 | g.24800131C= | CA1445033151 | SOD3 | c.610C= (p.Arg204=) n.800C= | |
4 | g.24800131C>G | CA356640286 | SOD3 | c.610C>G (p.Arg204Gly) n.800C>G | |
4 | g.24800131C>T | CA356640288 | SOD3 | c.610C>T (p.Arg204Trp) n.800C>T | dbSNP gnomAD v4 |
4 | g.24800132G>A | CA356640290 | SOD3 | c.611G>A (p.Arg204Gln) n.801G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800132G>C | CA356640292 | SOD3 | c.611G>C (p.Arg204Pro) n.801G>C | gnomAD v4 |
4 | g.24800132G= | CA1445033153 | SOD3 | c.611G= (p.Arg204=) n.801G= | |
4 | g.24800132G>T | CA356640294 | SOD3 | c.611G>T (p.Arg204Leu) n.801G>T | dbSNP gnomAD v4 |
4 | g.24800133G>A | CA438901627 | SOD3 | c.612G>A (p.Arg204=) n.802G>A | gnomAD v4 |
4 | g.24800133G>C | CA438901628 | SOD3 | c.612G>C (p.Arg204=) n.802G>C | |
4 | g.24800133G>T | CA438901629 | SOD3 | c.612G>T (p.Arg204=) n.802G>T | gnomAD v4 |
4 | g.24800135_24800145dup | CA2705256775 | SOD3 | c.614_624dup (p.Val209TrpfsTer?) n.804_814dup | dbSNP |
4 | g.24800134C>A | CA356640296 | SOD3 | c.613C>A (p.Leu205Met) n.803C>A | gnomAD v4 |
4 | g.24800134C= | CA1445033155 | SOD3 | c.613C= (p.Leu205=) n.803C= | |
4 | g.24800134C>G | CA356640299 | SOD3 | c.613C>G (p.Leu205Val) n.803C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800134C>T | CA438901630 | SOD3 | c.613C>T (p.Leu205=) n.803C>T | gnomAD v4 |
4 | g.24800135T>A | CA356640304 | SOD3 | c.614T>A (p.Leu205Gln) n.804T>A | |
4 | g.24800135T>C | CA356640305 | SOD3 | c.614T>C (p.Leu205Pro) n.804T>C | gnomAD v4 |
4 | g.24800135T>G | CA356640302 | SOD3 | c.614T>G (p.Leu205Arg) n.804T>G | gnomAD v4 |
4 | g.24800136G>A | CA94297247 | SOD3 | c.615G>A (p.Leu205=) n.805G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800136G>C | CA438901632 | SOD3 | c.615G>C (p.Leu205=) n.805G>C | gnomAD v4 |
4 | g.24800136G= | CA1445033159 | SOD3 | c.615G= (p.Leu205=) n.805G= | |
4 | g.24800136G>T | CA438901633 | SOD3 | c.615G>T (p.Leu205=) n.805G>T | gnomAD v4 |
4 | g.24800140_24800165del | CA2670208909 | SOD3 | c.619_644del (p.Cys207ArgfsTer?) n.809_834del | gnomAD v4 |
4 | g.24800137G>A | CA356640313 | SOD3 | c.616G>A (p.Ala206Thr) n.806G>A | gnomAD v4 |
4 | g.24800137G>C | CA356640315 | SOD3 | c.616G>C (p.Ala206Pro) n.806G>C | |
4 | g.24800137G>T | CA356640317 | SOD3 | c.616G>T (p.Ala206Ser) n.806G>T | gnomAD v4 |
4 | g.24800138C>A | CA356640320 | SOD3 | c.617C>A (p.Ala206Asp) n.807C>A | gnomAD v4 |
4 | g.24800138C= | CA1445033160 | SOD3 | c.617C= (p.Ala206=) n.807C= | |
4 | g.24800138C>G | CA356640321 | SOD3 | c.617C>G (p.Ala206Gly) n.807C>G | gnomAD v4 |
4 | g.24800138C>T | CA356640323 | SOD3 | c.617C>T (p.Ala206Val) n.807C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800139C>A | CA438901638 | SOD3 | c.618C>A (p.Ala206=) n.808C>A | gnomAD v4 |
4 | g.24800139C= | CA1445033162 | SOD3 | c.618C= (p.Ala206=) n.808C= | |
4 | g.24800139C>G | CA2876302 | SOD3 | c.618C>G (p.Ala206=) n.808C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800139C>T | CA438901640 | SOD3 | c.618C>T (p.Ala206=) n.808C>T | gnomAD v4 |
4 | g.24800140T>A | CA356640326 | SOD3 | c.619T>A (p.Cys207Ser) n.809T>A | |
4 | g.24800140T>C | CA356640330 | SOD3 | c.619T>C (p.Cys207Arg) n.809T>C | gnomAD v4 |
4 | g.24800140T>G | CA356640328 | SOD3 | c.619T>G (p.Cys207Gly) n.809T>G | |
4 | g.24800141G>A | CA356640332 | SOD3 | c.620G>A (p.Cys207Tyr) n.810G>A | gnomAD v4 |
4 | g.24800141G>C | CA356640334 | SOD3 | c.620G>C (p.Cys207Ser) n.810G>C | gnomAD v4 |
4 | g.24800141G>T | CA356640336 | SOD3 | c.620G>T (p.Cys207Phe) n.810G>T | gnomAD v4 |
4 | g.24800142C>A | CA356640338 | SOD3 | c.621C>A (p.Cys207Ter) n.811C>A | dbSNP gnomAD v4 |
4 | g.24800142C>G | CA356640339 | SOD3 | c.621C>G (p.Cys207Trp) n.811C>G | gnomAD v4 |
4 | g.24800142C>T | CA438901643 | SOD3 | c.621C>T (p.Cys207=) n.811C>T | gnomAD v4 |
4 | g.24800143T>A | CA356640341 | SOD3 | c.622T>A (p.Cys208Ser) n.812T>A | |
4 | g.24800143T>C | CA356640342 | SOD3 | c.622T>C (p.Cys208Arg) n.812T>C | gnomAD v4 |
4 | g.24800143T>G | CA356640340 | SOD3 | c.622T>G (p.Cys208Gly) n.812T>G | |
4 | g.24800144G>A | CA356640343 | SOD3 | c.623G>A (p.Cys208Tyr) n.813G>A | gnomAD v4 |
4 | g.24800144G>C | CA356640345 | SOD3 | c.623G>C (p.Cys208Ser) n.813G>C | |
4 | g.24800144G>T | CA356640344 | SOD3 | c.623G>T (p.Cys208Phe) n.813G>T | gnomAD v4 |
4 | g.24800145C>A | CA356640346 | SOD3 | c.624C>A (p.Cys208Ter) n.814C>A | gnomAD v4 |
4 | g.24800145C>G | CA356640347 | SOD3 | c.624C>G (p.Cys208Trp) n.814C>G | gnomAD v4 |
4 | g.24800145C>T | CA438901650 | SOD3 | c.624C>T (p.Cys208=) n.814C>T | gnomAD v4 |
4 | g.24800146G>A | CA94297248 | SOD3 | c.625G>A (p.Val209Met) n.815G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800146G>C | CA356640348 | SOD3 | c.625G>C (p.Val209Leu) n.815G>C | |
4 | g.24800146G= | CA1445033165 | SOD3 | c.625G= (p.Val209=) n.815G= | |
4 | g.24800146G>T | CA356640349 | SOD3 | c.625G>T (p.Val209Leu) n.815G>T | dbSNP gnomAD v4 |
4 | g.24800147T>A | CA356640350 | SOD3 | c.626T>A (p.Val209Glu) n.816T>A | |
4 | g.24800147T>C | CA356640351 | SOD3 | c.626T>C (p.Val209Ala) n.816T>C | gnomAD v4 |
4 | g.24800147T>G | CA356640352 | SOD3 | c.626T>G (p.Val209Gly) n.816T>G | |
4 | g.24800148G>A | CA438901654 | SOD3 | c.627G>A (p.Val209=) n.817G>A | gnomAD v4 |
4 | g.24800148G>C | CA438901656 | SOD3 | c.627G>C (p.Val209=) n.817G>C | |
4 | g.24800148G>T | CA438901658 | SOD3 | c.627G>T (p.Val209=) n.817G>T | gnomAD v4 |
4 | g.24800149G>A | CA356640353 | SOD3 | c.628G>A (p.Val210Met) n.818G>A | gnomAD v4 |
4 | g.24800149G>C | CA356640354 | SOD3 | c.628G>C (p.Val210Leu) n.818G>C | |
4 | g.24800149G>T | CA356640355 | SOD3 | c.628G>T (p.Val210Leu) n.818G>T | gnomAD v4 |
4 | g.24800150T>A | CA356640358 | SOD3 | c.629T>A (p.Val210Glu) n.819T>A | |
4 | g.24800150T>C | CA356640357 | SOD3 | c.629T>C (p.Val210Ala) n.819T>C | gnomAD v4 |
4 | g.24800150T>G | CA356640356 | SOD3 | c.629T>G (p.Val210Gly) n.819T>G | |
4 | g.24800151G>A | CA438901664 | SOD3 | c.630G>A (p.Val210=) n.820G>A | gnomAD v4 |
4 | g.24800151G>C | CA438901665 | SOD3 | c.630G>C (p.Val210=) n.820G>C | |
4 | g.24800151G>T | CA438901666 | SOD3 | c.630G>T (p.Val210=) n.820G>T | gnomAD v4 |
4 | g.24800153del | CA2670208910 | SOD3 | c.632del (p.Gly211AlafsTer?) n.822del | gnomAD v4 |
4 | g.24800152G>A | CA356640359 | SOD3 | c.631G>A (p.Gly211Ser) n.821G>A | gnomAD v4 |
4 | g.24800152G>C | CA356640360 | SOD3 | c.631G>C (p.Gly211Arg) n.821G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800152G= | CA1445033168 | SOD3 | c.631G= (p.Gly211=) n.821G= | |
4 | g.24800152G>T | CA356640362 | SOD3 | c.631G>T (p.Gly211Cys) n.821G>T | gnomAD v4 |
4 | g.24800153G>A | CA356640364 | SOD3 | c.632G>A (p.Gly211Asp) n.822G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800153G>C | CA356640366 | SOD3 | c.632G>C (p.Gly211Ala) n.822G>C | gnomAD v4 |
4 | g.24800153G= | CA1445033171 | SOD3 | c.632G= (p.Gly211=) n.822G= | |
4 | g.24800153G>T | CA356640367 | SOD3 | c.632G>T (p.Gly211Val) n.822G>T | gnomAD v4 |
4 | g.24800154C>A | CA438901673 | SOD3 | c.633C>A (p.Gly211=) n.823C>A | gnomAD v4 |
4 | g.24800154C= | CA1445033174 | SOD3 | c.633C= (p.Gly211=) n.823C= | |
4 | g.24800154C>G | CA438901674 | SOD3 | c.633C>G (p.Gly211=) n.823C>G | dbSNP gnomAD v4 |
4 | g.24800154C>T | CA438901676 | SOD3 | c.633C>T (p.Gly211=) n.823C>T | dbSNP gnomAD v4 |
4 | g.24800155G>A | CA94297249 | SOD3 | c.634G>A (p.Val212Met) n.824G>A | dbSNP gnomAD v4 |
4 | g.24800155G>C | CA356640371 | SOD3 | c.634G>C (p.Val212Leu) n.824G>C | gnomAD v4 |
4 | g.24800155G= | CA1445033178 | SOD3 | c.634G= (p.Val212=) n.824G= | |
4 | g.24800155G>T | CA356640373 | SOD3 | c.634G>T (p.Val212Leu) n.824G>T | gnomAD v4 |
4 | g.24800156T>A | CA94297250 | SOD3 | c.635T>A (p.Val212Glu) n.825T>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800156T>C | CA356640375 | SOD3 | c.635T>C (p.Val212Ala) n.825T>C | gnomAD v4 |
4 | g.24800156T>G | CA356640377 | SOD3 | c.635T>G (p.Val212Gly) n.825T>G | |
4 | g.24800156T= | CA1445033180 | SOD3 | c.635T= (p.Val212=) n.825T= | |
4 | g.24800157G>A | CA438901682 | SOD3 | c.636G>A (p.Val212=) n.826G>A | gnomAD v4 |
4 | g.24800157G>C | CA438901683 | SOD3 | c.636G>C (p.Val212=) n.826G>C | gnomAD v4 |
4 | g.24800157G>T | CA438901684 | SOD3 | c.636G>T (p.Val212=) n.826G>T | gnomAD v4 |
4 | g.24800158T>A | CA356640383 | SOD3 | c.637T>A (p.Cys213Ser) n.827T>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800158T>C | CA356640381 | SOD3 | c.637T>C (p.Cys213Arg) n.827T>C | gnomAD v4 |
4 | g.24800158T>G | CA356640380 | SOD3 | c.637T>G (p.Cys213Gly) n.827T>G | gnomAD v4 |
4 | g.24800158T= | CA1445033182 | SOD3 | c.637T= (p.Cys213=) n.827T= | |
4 | g.24800159G>A | CA356640389 | SOD3 | c.638G>A (p.Cys213Tyr) n.828G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800159G>C | CA356640386 | SOD3 | c.638G>C (p.Cys213Ser) n.828G>C | gnomAD v4 |
4 | g.24800159G= | CA1445033185 | SOD3 | c.638G= (p.Cys213=) n.828G= | |
4 | g.24800159G>T | CA356640387 | SOD3 | c.638G>T (p.Cys213Phe) n.828G>T | gnomAD v4 |
4 | g.24800160del | CA2670208911 | SOD3 | c.639del (p.Cys213TrpfsTer?) n.829del | gnomAD v4 |
4 | g.24800160C>A | CA356640391 | SOD3 | c.639C>A (p.Cys213Ter) n.829C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800160C= | CA1445033187 | SOD3 | c.639C= (p.Cys213=) n.829C= | |
4 | g.24800160C>G | CA356640393 | SOD3 | c.639C>G (p.Cys213Trp) n.829C>G | gnomAD v4 |
4 | g.24800160C>T | CA438901695 | SOD3 | c.639C>T (p.Cys213=) n.829C>T | gnomAD v4 |
4 | g.24800161G>A | CA356640395 | SOD3 | c.640G>A (p.Gly214Arg) n.830G>A | gnomAD v4 |
4 | g.24800161G>C | CA94297251 | SOD3 | c.640G>C (p.Gly214Arg) n.830G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800161G= | CA1445033189 | SOD3 | c.640G= (p.Gly214=) n.830G= | |
4 | g.24800161G>T | CA356640398 | SOD3 | c.640G>T (p.Gly214Trp) n.830G>T | gnomAD v4 |
4 | g.24800162_24800163insACAGG | CA2670208912 | SOD3 | c.641_642insACAGG (p.Pro215GlnfsTer?) n.831_832insACAGG | gnomAD v4 |
4 | g.24800162G>A | CA356640400 | SOD3 | c.641G>A (p.Gly214Glu) n.831G>A | gnomAD v4 |
4 | g.24800162G>C | CA356640402 | SOD3 | c.641G>C (p.Gly214Ala) n.831G>C | gnomAD v4 |
4 | g.24800162G>T | CA356640404 | SOD3 | c.641G>T (p.Gly214Val) n.831G>T | gnomAD v4 |
4 | g.24800163G>A | CA438901699 | SOD3 | c.642G>A (p.Gly214=) n.832G>A | gnomAD v4 |
4 | g.24800163G>C | CA438901700 | SOD3 | c.642G>C (p.Gly214=) n.832G>C | gnomAD v4 |
4 | g.24800163G>T | CA438901701 | SOD3 | c.642G>T (p.Gly214=) n.832G>T | gnomAD v4 |
4 | g.24800164C>A | CA356640406 | SOD3 | c.643C>A (p.Pro215Thr) n.833C>A | gnomAD v4 |
4 | g.24800164C= | CA1445033192 | SOD3 | c.643C= (p.Pro215=) n.833C= | |
4 | g.24800164C>G | CA356640408 | SOD3 | c.643C>G (p.Pro215Ala) n.833C>G | |
4 | g.24800164C>T | CA356640410 | SOD3 | c.643C>T (p.Pro215Ser) n.833C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800166del | CA2670208913 | SOD3 | c.645del (p.Leu217SerfsTer?) n.835del | gnomAD v4 |
4 | g.24800165C>A | CA356640416 | SOD3 | c.644C>A (p.Pro215His) n.834C>A | gnomAD v4 |
4 | g.24800165C>G | CA356640412 | SOD3 | c.644C>G (p.Pro215Arg) n.834C>G | |
4 | g.24800165C>T | CA356640414 | SOD3 | c.644C>T (p.Pro215Leu) n.834C>T | gnomAD v4 |
4 | g.24800166C>A | CA438901707 | SOD3 | c.645C>A (p.Pro215=) n.835C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800166C= | CA1445033195 | SOD3 | c.645C= (p.Pro215=) n.835C= | |
4 | g.24800166C>G | CA94297252 | SOD3 | c.645C>G (p.Pro215=) n.835C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800166C>T | CA438901705 | SOD3 | c.645C>T (p.Pro215=) n.835C>T | gnomAD v4 |
4 | g.24800167G>A | CA356640418 | SOD3 | c.646G>A (p.Gly216Arg) n.836G>A | gnomAD v4 |
4 | g.24800167G>C | CA356640420 | SOD3 | c.646G>C (p.Gly216Arg) n.836G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800167G= | CA1445033198 | SOD3 | c.646G= (p.Gly216=) n.836G= | |
4 | g.24800167G>T | CA356640421 | SOD3 | c.646G>T (p.Gly216Trp) n.836G>T | gnomAD v4 |
4 | g.24800168G>A | CA356640423 | SOD3 | c.647G>A (p.Gly216Glu) n.837G>A | gnomAD v4 |
4 | g.24800168G>C | CA356640425 | SOD3 | c.647G>C (p.Gly216Ala) n.837G>C | |
4 | g.24800168G>T | CA356640427 | SOD3 | c.647G>T (p.Gly216Val) n.837G>T | gnomAD v4 |
4 | g.24800169G>A | CA438901717 | SOD3 | c.648G>A (p.Gly216=) n.838G>A | gnomAD v4 |
4 | g.24800169G>C | CA438901714 | SOD3 | c.648G>C (p.Gly216=) n.838G>C | gnomAD v4 |
4 | g.24800169G>T | CA438901712 | SOD3 | c.648G>T (p.Gly216=) n.838G>T | gnomAD v4 |
4 | g.24800170C>A | CA356640429 | SOD3 | c.649C>A (p.Leu217Ile) n.839C>A | gnomAD v4 |
4 | g.24800170C= | CA1445033200 | SOD3 | c.649C= (p.Leu217=) n.839C= | |
4 | g.24800170C>G | CA356640431 | SOD3 | c.649C>G (p.Leu217Val) n.839C>G | gnomAD v4 |
4 | g.24800170C>T | CA356640433 | SOD3 | c.649C>T (p.Leu217Phe) n.839C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800171T>A | CA356640435 | SOD3 | c.650T>A (p.Leu217His) n.840T>A | |
4 | g.24800171T>C | CA356640437 | SOD3 | c.650T>C (p.Leu217Pro) n.840T>C | gnomAD v4 |
4 | g.24800171T>G | CA356640439 | SOD3 | c.650T>G (p.Leu217Arg) n.840T>G | |
4 | g.24800172C>A | CA438901723 | SOD3 | c.651C>A (p.Leu217=) n.841C>A | gnomAD v4 |
4 | g.24800172C= | CA1445033202 | SOD3 | c.651C= (p.Leu217=) n.841C= | |
4 | g.24800172C>G | CA438901724 | SOD3 | c.651C>G (p.Leu217=) n.841C>G | dbSNP |
4 | g.24800172C>T | CA94297253 | SOD3 | c.651C>T (p.Leu217=) n.841C>T | dbSNP gnomAD v4 |
4 | g.24800173T>A | CA356640443 | SOD3 | c.652T>A (p.Trp218Arg) n.842T>A | |
4 | g.24800173T>C | CA356640445 | SOD3 | c.652T>C (p.Trp218Arg) n.842T>C | gnomAD v4 |
4 | g.24800173T>G | CA356640441 | SOD3 | c.652T>G (p.Trp218Gly) n.842T>G | |
4 | g.24800174G>A | CA356640447 | SOD3 | c.653G>A (p.Trp218Ter) n.843G>A | dbSNP gnomAD v4 |
4 | g.24800174G>C | CA356640450 | SOD3 | c.653G>C (p.Trp218Ser) n.843G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800174G= | CA1445033204 | SOD3 | c.653G= (p.Trp218=) n.843G= | |
4 | g.24800174G>T | CA356640448 | SOD3 | c.653G>T (p.Trp218Leu) n.843G>T | gnomAD v4 |
4 | g.24800176del | CA2670208914 | SOD3 | c.655del (p.Glu219SerfsTer?) n.845del | gnomAD v4 |
4 | g.24800175G>A | CA356640451 | SOD3 | c.654G>A (p.Trp218Ter) n.844G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.24800175G>C | CA356640453 | SOD3 | c.654G>C (p.Trp218Cys) n.844G>C | dbSNP gnomAD v4 |
4 | g.24800175G= | CA1445033209 | SOD3 | c.654G= (p.Trp218=) n.844G= | |
4 | g.24800175G>T | CA356640454 | SOD3 | c.654G>T (p.Trp218Cys) n.844G>T | gnomAD v4 |
4 | g.24800176G>A | CA356640456 | SOD3 | c.655G>A (p.Glu219Lys) n.845G>A | gnomAD v4 |
4 | g.24800176G>C | CA356640457 | SOD3 | c.655G>C (p.Glu219Gln) n.845G>C | |
4 | g.24800176G>T | CA356640459 | SOD3 | c.655G>T (p.Glu219Ter) n.845G>T | gnomAD v4 |
4 | g.24800177A>C | CA356640461 | SOD3 | c.656A>C (p.Glu219Ala) n.846A>C | |
4 | g.24800177A>G | CA356640463 | SOD3 | c.656A>G (p.Glu219Gly) n.846A>G | dbSNP gnomAD v4 |
4 | g.24800177A>T | CA356640465 | SOD3 | c.656A>T (p.Glu219Val) n.846A>T | |
4 | g.24800178G>A | CA438901734 | SOD3 | c.657G>A (p.Glu219=) n.847G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.24800178G>C | CA356640467 | SOD3 | c.657G>C (p.Glu219Asp) n.847G>C | |
4 | g.24800178G= | CA1445033213 | SOD3 | c.657G= (p.Glu219=) n.847G= | |
4 | g.24800178G>T | CA356640468 | SOD3 | c.657G>T (p.Glu219Asp) n.847G>T | gnomAD v4 |
4 | g.24800179C>A | CA356640473 | SOD3 | c.658C>A (p.Arg220Ser) n.848C>A | gnomAD v4 |
4 | g.24800179C= | CA1445033216 | SOD3 | c.658C= (p.Arg220=) n.848C= | |
4 | g.24800179C>G | CA356640471 | SOD3 | c.658C>G (p.Arg220Gly) n.848C>G | |
4 | g.24800179C>T | CA2876303 | SOD3 | c.658C>T (p.Arg220Cys) n.848C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.24800180G>A | CA356640475 | SOD3 | c.659G>A (p.Arg220His) n.849G>A | gnomAD v4 |
4 | g.24800180G>C | CA356640477 | SOD3 | c.659G>C (p.Arg220Pro) n.849G>C | gnomAD v4 |
4 | g.24800180G= | CA1445033220 | SOD3 | c.659G= (p.Arg220=) n.849G= | |
4 | g.24800180G>T | CA2876304 | SOD3 | c.659G>T (p.Arg220Leu) n.849G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.24800181C>A | CA438901740 | SOD3 | c.660C>A (p.Arg220=) n.850C>A | gnomAD v4 |
4 | g.24800181C>G | CA438901742 | SOD3 | c.660C>G (p.Arg220=) n.850C>G | |
4 | g.24800181C>T | CA438901744 | SOD3 | c.660C>T (p.Arg220=) n.850C>T | gnomAD v4 |
4 | g.24800182del | CA2670208915 | SOD3 | c.661del (p.Gln221ArgfsTer?) n.851del | gnomAD v4 |