Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.130592890_130592925del | CA2661125013 | CFC1 | c.626_661del (p.Arg209_Gly220del) c.511_546del (p.Gly171_Gly182del) c.401_436del (p.Arg134_Gly145del) | gnomAD v4 |
2 | g.130592894_130592900del | CA2661125014 | CFC1 | c.649_655del (p.Pro217LeufsTer12) c.534_540del (p.Arg179TrpfsTer16) c.424_430del (p.Pro142LeufsTer12) | gnomAD v4 |
2 | g.130592895T>A | CA348502213 | CFC1 | c.654A>T (p.Gly218=) c.539A>T (p.Asp180Val) c.429A>T (p.Gly143=) | |
2 | g.130592895T>C | CA348502214 | CFC1 | c.654A>G (p.Gly218=) c.539A>G (p.Asp180Gly) c.429A>G (p.Gly143=) | |
2 | g.130592895T>G | CA348502215 | CFC1 | c.654A>C (p.Gly218=) c.539A>C (p.Asp180Ala) c.429A>C (p.Gly143=) | |
2 | g.130592896C>A | CA348502216 | CFC1 | c.653G>T (p.Gly218Val) c.538G>T (p.Asp180Tyr) c.428G>T (p.Gly143Val) | dbSNP |
2 | g.130592896C= | CA1288363439 | CFC1 | c.653G= (p.Gly218=) c.538G= (p.Asp180=) c.428G= (p.Gly143=) | |
2 | g.130592896C>G | CA348502218 | CFC1 | c.653G>C (p.Gly218Ala) c.538G>C (p.Asp180His) c.428G>C (p.Gly143Ala) | |
2 | g.130592896C>T | CA348502217 | CFC1 | c.653G>A (p.Gly218Glu) c.538G>A (p.Asp180Asn) c.428G>A (p.Gly143Glu) | gnomAD v4 |
2 | g.130592897C>A | CA348502219 | CFC1 | c.652G>T (p.Gly218Ter) c.537G>T (p.Arg179=) c.427G>T (p.Gly143Ter) | |
2 | g.130592897C>G | CA348502221 | CFC1 | c.652G>C (p.Gly218Arg) c.537G>C (p.Arg179=) c.427G>C (p.Gly143Arg) | |
2 | g.130592897C>T | CA348502220 | CFC1 | c.652G>A (p.Gly218Arg) c.537G>A (p.Arg179=) c.427G>A (p.Gly143Arg) | |
2 | g.130592898C>A | CA348502222 | CFC1 | c.651G>T (p.Pro217=) c.536G>T (p.Arg179Leu) c.426G>T (p.Pro142=) | |
2 | g.130592898C= | CA1288363440 | CFC1 | c.651G= (p.Pro217=) c.536G= (p.Arg179=) c.426G= (p.Pro142=) | |
2 | g.130592898C>G | CA348502223 | CFC1 | c.651G>C (p.Pro217=) c.536G>C (p.Arg179Pro) c.426G>C (p.Pro142=) | |
2 | g.130592898C>T | CA348502224 | CFC1 | c.651G>A (p.Pro217=) c.536G>A (p.Arg179Gln) c.426G>A (p.Pro142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592899G>A | CA348502225 | CFC1 | c.650C>T (p.Pro217Leu) c.535C>T (p.Arg179Trp) c.425C>T (p.Pro142Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592899G>C | CA348502226 | CFC1 | c.650C>G (p.Pro217Arg) c.535C>G (p.Arg179Gly) c.425C>G (p.Pro142Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592899G= | CA1288363441 | CFC1 | c.650C= (p.Pro217=) c.535C= (p.Arg179=) c.425C= (p.Pro142=) | |
2 | g.130592899G>T | CA348502227 | CFC1 | c.650C>A (p.Pro217Gln) c.535C>A (p.Arg179=) c.425C>A (p.Pro142Gln) | |
2 | g.130592900G>A | CA348502228 | CFC1 | c.649C>T (p.Pro217Ser) c.534C>T (p.Gly178=) c.424C>T (p.Pro142Ser) | gnomAD v3 gnomAD v4 |
2 | g.130592900G>C | CA348502229 | CFC1 | c.649C>G (p.Pro217Ala) c.534C>G (p.Gly178=) c.424C>G (p.Pro142Ala) | |
2 | g.130592900G>T | CA348502230 | CFC1 | c.649C>A (p.Pro217Thr) c.534C>A (p.Gly178=) c.424C>A (p.Pro142Thr) | |
2 | g.130592901C>A | CA348502231 | CFC1 | c.648G>T (p.Arg216Ser) c.533G>T (p.Gly178Val) c.423G>T (p.Arg141Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592901C= | CA1288363442 | CFC1 | c.648G= (p.Arg216=) c.533G= (p.Gly178=) c.423G= (p.Arg141=) | |
2 | g.130592901C>G | CA348502232 | CFC1 | c.648G>C (p.Arg216Ser) c.533G>C (p.Gly178Ala) c.423G>C (p.Arg141Ser) | gnomAD v4 |
2 | g.130592901C>T | CA348502233 | CFC1 | c.648G>A (p.Arg216=) c.533G>A (p.Gly178Asp) c.423G>A (p.Arg141=) | |
2 | g.130592902C>A | CA348502236 | CFC1 | c.647G>T (p.Arg216Met) c.532G>T (p.Gly178Cys) c.422G>T (p.Arg141Met) | gnomAD v4 |
2 | g.130592902C>G | CA348502234 | CFC1 | c.647G>C (p.Arg216Thr) c.532G>C (p.Gly178Arg) c.422G>C (p.Arg141Thr) | |
2 | g.130592902C>T | CA348502235 | CFC1 | c.647G>A (p.Arg216Lys) c.532G>A (p.Gly178Ser) c.422G>A (p.Arg141Lys) | |
2 | g.130592903T>A | CA348502237 | CFC1 | c.646A>T (p.Arg216Trp) c.531A>T (p.Glu177Asp) c.421A>T (p.Arg141Trp) | dbSNP |
2 | g.130592903T>C | CA348502238 | CFC1 | c.646A>G (p.Arg216Gly) c.531A>G (p.Glu177=) c.421A>G (p.Arg141Gly) | gnomAD v4 |
2 | g.130592903T>G | CA348502239 | CFC1 | c.646A>C (p.Arg216=) c.531A>C (p.Glu177Asp) c.421A>C (p.Arg141=) | |
2 | g.130592903T= | CA1288363443 | CFC1 | c.646A= (p.Arg216=) c.531A= (p.Glu177=) c.421A= (p.Arg141=) | |
2 | g.130592904T>A | CA348502240 | CFC1 | c.645A>T (p.Gly215=) c.530A>T (p.Glu177Val) c.420A>T (p.Gly140=) | |
2 | g.130592904T>C | CA348502241 | CFC1 | c.645A>G (p.Gly215=) c.530A>G (p.Glu177Gly) c.420A>G (p.Gly140=) | |
2 | g.130592904T>G | CA348502242 | CFC1 | c.645A>C (p.Gly215=) c.530A>C (p.Glu177Ala) c.420A>C (p.Gly140=) | |
2 | g.130592905C>A | CA348502243 | CFC1 | c.644G>T (p.Gly215Val) c.529G>T (p.Glu177Ter) c.419G>T (p.Gly140Val) | |
2 | g.130592905C>G | CA348502244 | CFC1 | c.644G>C (p.Gly215Ala) c.529G>C (p.Glu177Gln) c.419G>C (p.Gly140Ala) | |
2 | g.130592905C>T | CA348502245 | CFC1 | c.644G>A (p.Gly215Glu) c.529G>A (p.Glu177Lys) c.419G>A (p.Gly140Glu) | |
2 | g.130592906C>A | CA348502246 | CFC1 | c.643G>T (p.Gly215Ter) c.528G>T (p.Ala176=) c.418G>T (p.Gly140Ter) | |
2 | g.130592906C= | CA1288363444 | CFC1 | c.643G= (p.Gly215=) c.528G= (p.Ala176=) c.418G= (p.Gly140=) | |
2 | g.130592906C>G | CA348502247 | CFC1 | c.643G>C (p.Gly215Arg) c.528G>C (p.Ala176=) c.418G>C (p.Gly140Arg) | dbSNP |
2 | g.130592906C>T | CA348502248 | CFC1 | c.643G>A (p.Gly215Arg) c.528G>A (p.Ala176=) c.418G>A (p.Gly140Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592907G>A | CA348502251 | CFC1 | c.642C>T (p.Cys214=) c.527C>T (p.Ala176Val) c.417C>T (p.Cys139=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592907G>C | CA348502250 | CFC1 | c.642C>G (p.Cys214Trp) c.527C>G (p.Ala176Gly) c.417C>G (p.Cys139Trp) | |
2 | g.130592907G= | CA1288363445 | CFC1 | c.642C= (p.Cys214=) c.527C= (p.Ala176=) c.417C= (p.Cys139=) | |
2 | g.130592907G>T | CA348502249 | CFC1 | c.642C>A (p.Cys214Ter) c.527C>A (p.Ala176Glu) c.417C>A (p.Cys139Ter) | gnomAD v4 |
2 | g.130592908C>A | CA348502254 | CFC1 | c.641G>T (p.Cys214Phe) c.526G>T (p.Ala176Ser) c.416G>T (p.Cys139Phe) | |
2 | g.130592908C>G | CA348502252 | CFC1 | c.641G>C (p.Cys214Ser) c.526G>C (p.Ala176Pro) c.416G>C (p.Cys139Ser) | |
2 | g.130592908C>T | CA348502253 | CFC1 | c.641G>A (p.Cys214Tyr) c.526G>A (p.Ala176Thr) c.416G>A (p.Cys139Tyr) | |
2 | g.130592909A= | CA1288363446 | CFC1 | c.640T= (p.Cys214=) c.525T= (p.Pro175=) c.415T= (p.Cys139=) | |
2 | g.130592909A>C | CA348502255 | CFC1 | c.640T>G (p.Cys214Gly) c.525T>G (p.Pro175=) c.415T>G (p.Cys139Gly) | |
2 | g.130592909A>G | CA348502256 | CFC1 | c.640T>C (p.Cys214Arg) c.525T>C (p.Pro175=) c.415T>C (p.Cys139Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592909A>T | CA348502257 | CFC1 | c.640T>A (p.Cys214Ser) c.525T>A (p.Pro175=) c.415T>A (p.Cys139Ser) | |
2 | g.130592910G>A | CA348502260 | CFC1 | c.639C>T (p.Pro213=) c.524C>T (p.Pro175Leu) c.414C>T (p.Pro138=) | dbSNP |
2 | g.130592910G>C | CA348502259 | CFC1 | c.639C>G (p.Pro213=) c.524C>G (p.Pro175Arg) c.414C>G (p.Pro138=) | |
2 | g.130592910G= | CA1288363447 | CFC1 | c.639C= (p.Pro213=) c.524C= (p.Pro175=) c.414C= (p.Pro138=) | |
2 | g.130592910G>T | CA348502258 | CFC1 | c.639C>A (p.Pro213=) c.524C>A (p.Pro175His) c.414C>A (p.Pro138=) | |
2 | g.130592911G>A | CA348502261 | CFC1 | c.638C>T (p.Pro213Leu) c.523C>T (p.Pro175Ser) c.413C>T (p.Pro138Leu) | gnomAD v4 |
2 | g.130592911G>C | CA348502262 | CFC1 | c.638C>G (p.Pro213Arg) c.523C>G (p.Pro175Ala) c.413C>G (p.Pro138Arg) | gnomAD v3 gnomAD v4 |
2 | g.130592911G>T | CA348502263 | CFC1 | c.638C>A (p.Pro213His) c.523C>A (p.Pro175Thr) c.413C>A (p.Pro138His) | gnomAD v4 |
2 | g.130592912G>A | CA348502264 | CFC1 | c.637C>T (p.Pro213Ser) c.522C>T (p.Ala174=) c.412C>T (p.Pro138Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592912G>C | CA348502265 | CFC1 | c.637C>G (p.Pro213Ala) c.522C>G (p.Ala174=) c.412C>G (p.Pro138Ala) | |
2 | g.130592912G= | CA1288363448 | CFC1 | c.637C= (p.Pro213=) c.522C= (p.Ala174=) c.412C= (p.Pro138=) | |
2 | g.130592912G>T | CA348502266 | CFC1 | c.637C>A (p.Pro213Thr) c.522C>A (p.Ala174=) c.412C>A (p.Pro138Thr) | dbSNP |
2 | g.130592913G>A | CA348502267 | CFC1 | c.636C>T (p.Arg212=) c.521C>T (p.Ala174Val) c.411C>T (p.Arg137=) | gnomAD v4 |
2 | g.130592913G>C | CA348502269 | CFC1 | c.636C>G (p.Arg212=) c.521C>G (p.Ala174Gly) c.411C>G (p.Arg137=) | |
2 | g.130592913G>T | CA348502268 | CFC1 | c.636C>A (p.Arg212=) c.521C>A (p.Ala174Asp) c.411C>A (p.Arg137=) | |
2 | g.130592914C>A | CA348502270 | CFC1 | c.635G>T (p.Arg212Leu) c.520G>T (p.Ala174Ser) c.410G>T (p.Arg137Leu) | |
2 | g.130592914C>G | CA348502271 | CFC1 | c.635G>C (p.Arg212Pro) c.520G>C (p.Ala174Pro) c.410G>C (p.Arg137Pro) | gnomAD v4 |
2 | g.130592914C>T | CA348502272 | CFC1 | c.635G>A (p.Arg212His) c.520G>A (p.Ala174Thr) c.410G>A (p.Arg137His) | gnomAD v4 |
2 | g.130592915G>A | CA348502273 | CFC1 | c.634C>T (p.Arg212Cys) c.519C>T (p.Gly173=) c.409C>T (p.Arg137Cys) | gnomAD v4 |
2 | g.130592915G>C | CA348502274 | CFC1 | c.634C>G (p.Arg212Gly) c.519C>G (p.Gly173=) c.409C>G (p.Arg137Gly) | |
2 | g.130592915G>T | CA348502275 | CFC1 | c.634C>A (p.Arg212Ser) c.519C>A (p.Gly173=) c.409C>A (p.Arg137Ser) | gnomAD v3 gnomAD v4 |
2 | g.130592916C>A | CA348502276 | CFC1 | c.633G>T (p.Arg211=) c.518G>T (p.Gly173Val) c.408G>T (p.Arg136=) | |
2 | g.130592916C>G | CA348502277 | CFC1 | c.633G>C (p.Arg211=) c.518G>C (p.Gly173Ala) c.408G>C (p.Arg136=) | |
2 | g.130592916C>T | CA348502278 | CFC1 | c.633G>A (p.Arg211=) c.518G>A (p.Gly173Asp) c.408G>A (p.Arg136=) | |
2 | g.130592917C>A | CA348502279 | CFC1 | c.632G>T (p.Arg211Leu) c.517G>T (p.Gly173Cys) c.407G>T (p.Arg136Leu) | |
2 | g.130592917C= | CA1288363449 | CFC1 | c.632G= (p.Arg211=) c.517G= (p.Gly173=) c.407G= (p.Arg136=) | |
2 | g.130592917C>G | CA348502280 | CFC1 | c.632G>C (p.Arg211Pro) c.517G>C (p.Gly173Arg) c.407G>C (p.Arg136Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592917C>T | CA348502281 | CFC1 | c.632G>A (p.Arg211Gln) c.517G>A (p.Gly173Ser) c.407G>A (p.Arg136Gln) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592918G>A | CA348502283 | CFC1 | c.631C>T (p.Arg211Trp) c.516C>T (p.Ser172=) c.406C>T (p.Arg136Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592918G>C | CA348502284 | CFC1 | c.631C>G (p.Arg211Gly) c.516C>G (p.Ser172Arg) c.406C>G (p.Arg136Gly) | |
2 | g.130592918G= | CA1288363450 | CFC1 | c.631C= (p.Arg211=) c.516C= (p.Ser172=) c.406C= (p.Arg136=) | |
2 | g.130592918G>T | CA348502282 | CFC1 | c.631C>A (p.Arg211=) c.516C>A (p.Ser172Arg) c.406C>A (p.Arg136=) | |
2 | g.130592919C>A | CA348502285 | CFC1 | c.630G>T (p.Glu210Asp) c.515G>T (p.Ser172Ile) c.405G>T (p.Glu135Asp) | |
2 | g.130592919C>G | CA348502286 | CFC1 | c.630G>C (p.Glu210Asp) c.515G>C (p.Ser172Thr) c.405G>C (p.Glu135Asp) | |
2 | g.130592919C>T | CA348502287 | CFC1 | c.630G>A (p.Glu210=) c.515G>A (p.Ser172Asn) c.405G>A (p.Glu135=) | gnomAD v4 |
2 | g.130592920T>A | CA348502288 | CFC1 | c.629A>T (p.Glu210Val) c.514A>T (p.Ser172Cys) c.404A>T (p.Glu135Val) | |
2 | g.130592920T>C | CA348502289 | CFC1 | c.629A>G (p.Glu210Gly) c.514A>G (p.Ser172Gly) c.404A>G (p.Glu135Gly) | |
2 | g.130592920T>G | CA348502290 | CFC1 | c.629A>C (p.Glu210Ala) c.514A>C (p.Ser172Arg) c.404A>C (p.Glu135Ala) | |
2 | g.130592921C>A | CA348502293 | CFC1 | c.628G>T (p.Glu210Ter) c.513G>T (p.Gly171=) c.403G>T (p.Glu135Ter) | |
2 | g.130592921C= | CA1288363451 | CFC1 | c.628G= (p.Glu210=) c.513G= (p.Gly171=) c.403G= (p.Glu135=) | |
2 | g.130592921C>G | CA348502292 | CFC1 | c.628G>C (p.Glu210Gln) c.513G>C (p.Gly171=) c.403G>C (p.Glu135Gln) | |
2 | g.130592921C>T | CA348502291 | CFC1 | c.628G>A (p.Glu210Lys) c.513G>A (p.Gly171=) c.403G>A (p.Glu135Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592922C>A | CA348502294 | CFC1 | c.627G>T (p.Arg209=) c.512G>T (p.Gly171Val) c.402G>T (p.Arg134=) | |
2 | g.130592922C= | CA1288363452 | CFC1 | c.627G= (p.Arg209=) c.512G= (p.Gly171=) c.402G= (p.Arg134=) | |
2 | g.130592922C>G | CA348502295 | CFC1 | c.627G>C (p.Arg209=) c.512G>C (p.Gly171Ala) c.402G>C (p.Arg134=) | |
2 | g.130592922C>T | CA348502296 | CFC1 | c.627G>A (p.Arg209=) c.512G>A (p.Gly171Glu) c.402G>A (p.Arg134=) | dbSNP gnomAD v4 |
2 | g.130592923C>A | CA348502297 | CFC1 | c.626G>T (p.Arg209Leu) c.511G>T (p.Gly171Trp) c.401G>T (p.Arg134Leu) | |
2 | g.130592923C= | CA1288363453 | CFC1 | c.626G= (p.Arg209=) c.511G= (p.Gly171=) c.401G= (p.Arg134=) | |
2 | g.130592923C>G | CA348502298 | CFC1 | c.626G>C (p.Arg209Pro) c.511G>C (p.Gly171Arg) c.401G>C (p.Arg134Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592923C>T | CA348502299 | CFC1 | c.626G>A (p.Arg209Gln) c.511G>A (p.Gly171Arg) c.401G>A (p.Arg134Gln) | dbSNP gnomAD v4 |
2 | g.130592924G>A | CA348502300 | CFC1 | c.625C>T (p.Arg209Trp) c.510C>T (p.Ser170=) c.400C>T (p.Arg134Trp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592924G>C | CA348502302 | CFC1 | c.625C>G (p.Arg209Gly) c.510C>G (p.Ser170Arg) c.400C>G (p.Arg134Gly) | |
2 | g.130592924G= | CA1288363454 | CFC1 | c.625C= (p.Arg209=) c.510C= (p.Ser170=) c.400C= (p.Arg134=) | |
2 | g.130592924G>T | CA348502301 | CFC1 | c.625C>A (p.Arg209=) c.510C>A (p.Ser170Arg) c.400C>A (p.Arg134=) | |
2 | g.130592925C>A | CA348502303 | CFC1 | c.624G>T (p.Gln208His) c.509G>T (p.Ser170Ile) c.399G>T (p.Gln133His) | |
2 | g.130592925C>G | CA348502304 | CFC1 | c.624G>C (p.Gln208His) c.509G>C (p.Ser170Thr) c.399G>C (p.Gln133His) | |
2 | g.130592925C>T | CA348502305 | CFC1 | c.624G>A (p.Gln208=) c.509G>A (p.Ser170Asn) c.399G>A (p.Gln133=) | |
2 | g.130592926T>A | CA348502306 | CFC1 | c.623A>T (p.Gln208Leu) c.508A>T (p.Ser170Cys) c.398A>T (p.Gln133Leu) | |
2 | g.130592926T>C | CA348502307 | CFC1 | c.623A>G (p.Gln208Arg) c.508A>G (p.Ser170Gly) c.398A>G (p.Gln133Arg) | gnomAD v4 |
2 | g.130592926T>G | CA348502308 | CFC1 | c.623A>C (p.Gln208Pro) c.508A>C (p.Ser170Arg) c.398A>C (p.Gln133Pro) | |
2 | g.130592927G>A | CA348502309 | CFC1 | c.622C>T (p.Gln208Ter) c.507C>T (p.Ser169=) c.397C>T (p.Gln133Ter) | gnomAD v4 |
2 | g.130592927G>C | CA348502310 | CFC1 | c.622C>G (p.Gln208Glu) c.507C>G (p.Ser169=) c.397C>G (p.Gln133Glu) | |
2 | g.130592927G>T | CA348502311 | CFC1 | c.622C>A (p.Gln208Lys) c.507C>A (p.Ser169=) c.397C>A (p.Gln133Lys) | |
2 | g.130592928G>A | CA348502312 | CFC1 | c.621C>T (p.Leu207=) c.506C>T (p.Ser169Phe) c.396C>T (p.Leu132=) | |
2 | g.130592928G>C | CA348502313 | CFC1 | c.621C>G (p.Leu207=) c.506C>G (p.Ser169Cys) c.396C>G (p.Leu132=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592928G= | CA1288363455 | CFC1 | c.621C= (p.Leu207=) c.506C= (p.Ser169=) c.396C= (p.Leu132=) | |
2 | g.130592928G>T | CA348502314 | CFC1 | c.621C>A (p.Leu207=) c.506C>A (p.Ser169Tyr) c.396C>A (p.Leu132=) | |
2 | g.130592929A>C | CA348502315 | CFC1 | c.620T>G (p.Leu207Arg) c.505T>G (p.Ser169Ala) c.395T>G (p.Leu132Arg) | |
2 | g.130592929A>G | CA348502317 | CFC1 | c.620T>C (p.Leu207Pro) c.505T>C (p.Ser169Pro) c.395T>C (p.Leu132Pro) | |
2 | g.130592929A>T | CA348502316 | CFC1 | c.620T>A (p.Leu207His) c.505T>A (p.Ser169Thr) c.395T>A (p.Leu132His) | |
2 | g.130592930G>A | CA348502318 | CFC1 | c.619C>T (p.Leu207Phe) c.504C>T (p.Ser168=) c.394C>T (p.Leu132Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592930G>C | CA55504179 | CFC1 | c.619C>G (p.Leu207Val) c.504C>G (p.Ser168=) c.394C>G (p.Leu132Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592930G= | CA1288363456 | CFC1 | c.619C= (p.Leu207=) c.504C= (p.Ser168=) c.394C= (p.Leu132=) | |
2 | g.130592930G>T | CA348502319 | CFC1 | c.619C>A (p.Leu207Ile) c.504C>A (p.Ser168=) c.394C>A (p.Leu132Ile) | |
2 | g.130592933_130592936dup | CA913089048 | CFC1 | c.616_619dup (p.Leu207ArgfsTer30) c.501_504dup (p.Ser169ValfsTer19) c.391_394dup (p.Leu132ArgfsTer30) | |
2 | g.130592931G>A | CA348502320 | CFC1 | c.618C>T (p.Val206=) c.503C>T (p.Ser168Phe) c.393C>T (p.Val131=) | gnomAD v4 |
2 | g.130592931G>C | CA348502321 | CFC1 | c.618C>G (p.Val206=) c.503C>G (p.Ser168Cys) c.393C>G (p.Val131=) | |
2 | g.130592931G>T | CA348502322 | CFC1 | c.618C>A (p.Val206=) c.503C>A (p.Ser168Tyr) c.393C>A (p.Val131=) | |
2 | g.130592932A>C | CA348502323 | CFC1 | c.617T>G (p.Val206Gly) c.502T>G (p.Ser168Ala) c.392T>G (p.Val131Gly) | gnomAD v3 gnomAD v4 |
2 | g.130592932A>G | CA348502324 | CFC1 | c.617T>C (p.Val206Ala) c.502T>C (p.Ser168Pro) c.392T>C (p.Val131Ala) | |
2 | g.130592932A>T | CA348502325 | CFC1 | c.617T>A (p.Val206Asp) c.502T>A (p.Ser168Thr) c.392T>A (p.Val131Asp) | |
2 | g.130592933C>A | CA348502326 | CFC1 | c.616G>T (p.Val206Phe) c.501G>T (p.Pro167=) c.391G>T (p.Val131Phe) | |
2 | g.130592933C= | CA1288363457 | CFC1 | c.616G= (p.Val206=) c.501G= (p.Pro167=) c.391G= (p.Val131=) | |
2 | g.130592933C>G | CA348502327 | CFC1 | c.616G>C (p.Val206Leu) c.501G>C (p.Pro167=) c.391G>C (p.Val131Leu) | |
2 | g.130592933C>T | CA348502328 | CFC1 | c.616G>A (p.Val206Ile) c.501G>A (p.Pro167=) c.391G>A (p.Val131Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592934G>A | CA348502330 | CFC1 | c.615C>T (p.Ser205=) c.500C>T (p.Pro167Leu) c.390C>T (p.Ser130=) | gnomAD v4 COSMIC |
2 | g.130592934G>C | CA290063 | CFC1 | c.615C>G (p.Ser205=) c.500C>G (p.Pro167Arg) c.390C>G (p.Ser130=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.130592934G= | CA1288363458 | CFC1 | c.615C= (p.Ser205=) c.500C= (p.Pro167=) c.390C= (p.Ser130=) | |
2 | g.130592934G>T | CA348502329 | CFC1 | c.615C>A (p.Ser205=) c.500C>A (p.Pro167Gln) c.390C>A (p.Ser130=) | gnomAD v4 |
2 | g.130592935G>A | CA348502331 | CFC1 | c.614C>T (p.Ser205Phe) c.499C>T (p.Pro167Ser) c.389C>T (p.Ser130Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592935G>C | CA348502332 | CFC1 | c.614C>G (p.Ser205Cys) c.499C>G (p.Pro167Ala) c.389C>G (p.Ser130Cys) | |
2 | g.130592935G= | CA1288363459 | CFC1 | c.614C= (p.Ser205=) c.499C= (p.Pro167=) c.389C= (p.Ser130=) | |
2 | g.130592935G>T | CA348502333 | CFC1 | c.614C>A (p.Ser205Tyr) c.499C>A (p.Pro167Thr) c.389C>A (p.Ser130Tyr) | gnomAD v4 |
2 | g.130592936A>C | CA348502334 | CFC1 | c.613T>G (p.Ser205Ala) c.498T>G (p.Leu166=) c.388T>G (p.Ser130Ala) | gnomAD v4 |
2 | g.130592936A>G | CA348502335 | CFC1 | c.613T>C (p.Ser205Pro) c.498T>C (p.Leu166=) c.388T>C (p.Ser130Pro) | gnomAD v3 gnomAD v4 |
2 | g.130592936A>T | CA348502336 | CFC1 | c.613T>A (p.Ser205Thr) c.498T>A (p.Leu166=) c.388T>A (p.Ser130Thr) | |
2 | g.130592937A>C | CA348502337 | CFC1 | c.612T>G (p.Pro204=) c.497T>G (p.Leu166Arg) c.387T>G (p.Pro129=) | gnomAD v4 |
2 | g.130592937A>G | CA348502338 | CFC1 | c.612T>C (p.Pro204=) c.497T>C (p.Leu166Pro) c.387T>C (p.Pro129=) | gnomAD v4 |
2 | g.130592937A>T | CA348502339 | CFC1 | c.612T>A (p.Pro204=) c.497T>A (p.Leu166His) c.387T>A (p.Pro129=) | |
2 | g.130592944_130592950dup | CA2661125015 | CFC1 | c.606_612dup (p.Ser205GlyfsTer?) c.491_497dup (p.Pro167ValfsTer22) c.381_387dup (p.Ser130GlyfsTer?) | gnomAD v4 |
2 | g.130592944_130592950del | CA2661125016 | CFC1 | c.606_612del (p.Val203ProfsTer26) c.491_497del (p.Trp164PhefsTer?) c.381_387del (p.Val128ProfsTer26) | gnomAD v4 |
2 | g.130592938G>A | CA348502340 | CFC1 | c.611C>T (p.Pro204Leu) c.496C>T (p.Leu166Phe) c.386C>T (p.Pro129Leu) | dbSNP gnomAD v4 |
2 | g.130592938G>C | CA348502341 | CFC1 | c.611C>G (p.Pro204Arg) c.496C>G (p.Leu166Val) c.386C>G (p.Pro129Arg) | |
2 | g.130592938G= | CA1288363460 | CFC1 | c.611C= (p.Pro204=) c.496C= (p.Leu166=) c.386C= (p.Pro129=) | |
2 | g.130592938G>T | CA348502342 | CFC1 | c.611C>A (p.Pro204His) c.496C>A (p.Leu166Ile) c.386C>A (p.Pro129His) | |
2 | g.130592939G>A | CA348502343 | CFC1 | c.610C>T (p.Pro204Ser) c.495C>T (p.Ser165=) c.385C>T (p.Pro129Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592939G>C | CA348502345 | CFC1 | c.610C>G (p.Pro204Ala) c.495C>G (p.Ser165=) c.385C>G (p.Pro129Ala) | gnomAD v4 |
2 | g.130592939G= | CA1288363461 | CFC1 | c.610C= (p.Pro204=) c.495C= (p.Ser165=) c.385C= (p.Pro129=) | |
2 | g.130592939G>T | CA348502344 | CFC1 | c.610C>A (p.Pro204Thr) c.495C>A (p.Ser165=) c.385C>A (p.Pro129Thr) | |
2 | g.130592940G>A | CA348502346 | CFC1 | c.609C>T (p.Val203=) c.494C>T (p.Ser165Phe) c.384C>T (p.Val128=) | |
2 | g.130592940G>C | CA348502348 | CFC1 | c.609C>G (p.Val203=) c.494C>G (p.Ser165Cys) c.384C>G (p.Val128=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592940G= | CA1288363462 | CFC1 | c.609C= (p.Val203=) c.494C= (p.Ser165=) c.384C= (p.Val128=) | |
2 | g.130592940G>T | CA348502347 | CFC1 | c.609C>A (p.Val203=) c.494C>A (p.Ser165Tyr) c.384C>A (p.Val128=) | |
2 | g.130592941A= | CA1288363463 | CFC1 | c.608T= (p.Val203=) c.493T= (p.Ser165=) c.383T= (p.Val128=) | |
2 | g.130592941A>C | CA348502349 | CFC1 | c.608T>G (p.Val203Gly) c.493T>G (p.Ser165Ala) c.383T>G (p.Val128Gly) | gnomAD v3 gnomAD v4 |
2 | g.130592941A>G | CA348502350 | CFC1 | c.608T>C (p.Val203Ala) c.493T>C (p.Ser165Pro) c.383T>C (p.Val128Ala) | dbSNP gnomAD v4 |
2 | g.130592941A>T | CA348502351 | CFC1 | c.608T>A (p.Val203Asp) c.493T>A (p.Ser165Thr) c.383T>A (p.Val128Asp) | |
2 | g.130592942C>A | CA348502352 | CFC1 | c.607G>T (p.Val203Phe) c.492G>T (p.Trp164Cys) c.382G>T (p.Val128Phe) | gnomAD v4 |
2 | g.130592942C>G | CA348502353 | CFC1 | c.607G>C (p.Val203Leu) c.492G>C (p.Trp164Cys) c.382G>C (p.Val128Leu) | |
2 | g.130592942C>T | CA348502354 | CFC1 | c.607G>A (p.Val203Ile) c.492G>A (p.Trp164Ter) c.382G>A (p.Val128Ile) | gnomAD v4 |
2 | g.130592943del | CA2752191865 | CFC1 | c.607del (p.Val203SerfsTer28) c.492del (p.Trp164CysfsTer?) c.382del (p.Val128SerfsTer28) | |
2 | g.130592943C>A | CA348502355 | CFC1 | c.606G>T (p.Leu202=) c.491G>T (p.Trp164Leu) c.381G>T (p.Leu127=) | gnomAD v4 |
2 | g.130592943C= | CA1288363464 | CFC1 | c.606G= (p.Leu202=) c.491G= (p.Trp164=) c.381G= (p.Leu127=) | |
2 | g.130592943C>G | CA290060 | CFC1 | c.606G>C (p.Leu202=) c.491G>C (p.Trp164Ser) c.381G>C (p.Leu127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592943C>T | CA348502356 | CFC1 | c.606G>A (p.Leu202=) c.491G>A (p.Trp164Ter) c.381G>A (p.Leu127=) | dbSNP |
2 | g.130592944A>C | CA348502357 | CFC1 | c.605T>G (p.Leu202Arg) c.490T>G (p.Trp164Gly) c.380T>G (p.Leu127Arg) | |
2 | g.130592944A>G | CA348502358 | CFC1 | c.605T>C (p.Leu202Pro) c.490T>C (p.Trp164Arg) c.380T>C (p.Leu127Pro) | |
2 | g.130592944A>T | CA348502359 | CFC1 | c.605T>A (p.Leu202Gln) c.490T>A (p.Trp164Arg) c.380T>A (p.Leu127Gln) | |
2 | g.130592945G>A | CA428885195 | CFC1 | c.604C>T (p.Leu202=) c.489C>T (p.Pro163=) c.379C>T (p.Leu127=) | gnomAD v4 |
2 | g.130592945G>C | CA348502361 | CFC1 | c.604C>G (p.Leu202Val) c.489C>G (p.Pro163=) c.379C>G (p.Leu127Val) | gnomAD v4 |
2 | g.130592945G>T | CA348502360 | CFC1 | c.604C>A (p.Leu202Met) c.489C>A (p.Pro163=) c.379C>A (p.Leu127Met) | |
2 | g.130592946G>A | CA348502362 | CFC1 | c.603C>T (p.Ser201=) c.488C>T (p.Pro163Leu) c.378C>T (p.Ser126=) | gnomAD v4 |
2 | g.130592946G>C | CA348502363 | CFC1 | c.603C>G (p.Ser201=) c.488C>G (p.Pro163Arg) c.378C>G (p.Ser126=) | |
2 | g.130592946G>T | CA348502364 | CFC1 | c.603C>A (p.Ser201=) c.488C>A (p.Pro163His) c.378C>A (p.Ser126=) | |
2 | g.130592947G>A | CA348502365 | CFC1 | c.602C>T (p.Ser201Phe) c.487C>T (p.Pro163Ser) c.377C>T (p.Ser126Phe) | |
2 | g.130592947G>C | CA348502366 | CFC1 | c.602C>G (p.Ser201Cys) c.487C>G (p.Pro163Ala) c.377C>G (p.Ser126Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592947G= | CA1288363465 | CFC1 | c.602C= (p.Ser201=) c.487C= (p.Pro163=) c.377C= (p.Ser126=) | |
2 | g.130592947G>T | CA348502367 | CFC1 | c.602C>A (p.Ser201Tyr) c.487C>A (p.Pro163Thr) c.377C>A (p.Ser126Tyr) | |
2 | g.130592948A= | CA1288363466 | CFC1 | c.601T= (p.Ser201=) c.486T= (p.Gly162=) c.376T= (p.Ser126=) | |
2 | g.130592948A>C | CA348502368 | CFC1 | c.601T>G (p.Ser201Ala) c.486T>G (p.Gly162=) c.376T>G (p.Ser126Ala) | dbSNP gnomAD v4 |
2 | g.130592948A>G | CA348502369 | CFC1 | c.601T>C (p.Ser201Pro) c.486T>C (p.Gly162=) c.376T>C (p.Ser126Pro) | |
2 | g.130592948A>T | CA348502370 | CFC1 | c.601T>A (p.Ser201Thr) c.486T>A (p.Gly162=) c.376T>A (p.Ser126Thr) | |
2 | g.130592949C>A | CA290057 | CFC1 | c.600G>T (p.Arg200=) c.485G>T (p.Gly162Val) c.375G>T (p.Arg125=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592949C= | CA1288363467 | CFC1 | c.600G= (p.Arg200=) c.485G= (p.Gly162=) c.375G= (p.Arg125=) | |
2 | g.130592949C>G | CA348502371 | CFC1 | c.600G>C (p.Arg200=) c.485G>C (p.Gly162Ala) c.375G>C (p.Arg125=) | |
2 | g.130592949C>T | CA348502372 | CFC1 | c.600G>A (p.Arg200=) c.485G>A (p.Gly162Asp) c.375G>A (p.Arg125=) | gnomAD v4 |
2 | g.130592950C>A | CA348502375 | CFC1 | c.599G>T (p.Arg200Leu) c.484G>T (p.Gly162Cys) c.374G>T (p.Arg125Leu) | |
2 | g.130592950C= | CA1288363468 | CFC1 | c.599G= (p.Arg200=) c.484G= (p.Gly162=) c.374G= (p.Arg125=) | |
2 | g.130592950C>G | CA348502374 | CFC1 | c.599G>C (p.Arg200Pro) c.484G>C (p.Gly162Arg) c.374G>C (p.Arg125Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592950C>T | CA348502373 | CFC1 | c.599G>A (p.Arg200Gln) c.484G>A (p.Gly162Ser) c.374G>A (p.Arg125Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592951G>A | CA348502377 | CFC1 | c.598C>T (p.Arg200Trp) c.483C>T (p.Leu161=) c.373C>T (p.Arg125Trp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592951G>C | CA348502376 | CFC1 | c.598C>G (p.Arg200Gly) c.483C>G (p.Leu161=) c.373C>G (p.Arg125Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592951G= | CA1288363469 | CFC1 | c.598C= (p.Arg200=) c.483C= (p.Leu161=) c.373C= (p.Arg125=) | |
2 | g.130592951G>T | CA428885205 | CFC1 | c.598C>A (p.Arg200=) c.483C>A (p.Leu161=) c.373C>A (p.Arg125=) | gnomAD v4 |
2 | g.130592952A= | CA1288363470 | CFC1 | c.597T= (p.Pro199=) c.482T= (p.Leu161=) c.372T= (p.Pro124=) | |
2 | g.130592952A>C | CA348502378 | CFC1 | c.597T>G (p.Pro199=) c.482T>G (p.Leu161Arg) c.372T>G (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592952A>G | CA348502379 | CFC1 | c.597T>C (p.Pro199=) c.482T>C (p.Leu161Pro) c.372T>C (p.Pro124=) | |
2 | g.130592952A>T | CA348502380 | CFC1 | c.597T>A (p.Pro199=) c.482T>A (p.Leu161His) c.372T>A (p.Pro124=) | |
2 | g.130592952dup | CA2661125017 | CFC1 | c.597dup (p.Arg200SerfsTer?) c.482dup (p.Gly162ArgfsTer25) c.372dup (p.Arg125SerfsTer?) | gnomAD v4 |
2 | g.130592953G>A | CA348502381 | CFC1 | c.596C>T (p.Pro199Leu) c.481C>T (p.Leu161Phe) c.371C>T (p.Pro124Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592953G>C | CA348502382 | CFC1 | c.596C>G (p.Pro199Arg) c.481C>G (p.Leu161Val) c.371C>G (p.Pro124Arg) | |
2 | g.130592953G= | CA1288363471 | CFC1 | c.596C= (p.Pro199=) c.481C= (p.Leu161=) c.371C= (p.Pro124=) | |
2 | g.130592953G>T | CA348502383 | CFC1 | c.596C>A (p.Pro199His) c.481C>A (p.Leu161Ile) c.371C>A (p.Pro124His) | |
2 | g.130592954G>A | CA348502384 | CFC1 | c.595C>T (p.Pro199Ser) c.480C>T (p.Thr160=) c.370C>T (p.Pro124Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592954G>C | CA348502385 | CFC1 | c.595C>G (p.Pro199Ala) c.480C>G (p.Thr160=) c.370C>G (p.Pro124Ala) | |
2 | g.130592954G= | CA1288363472 | CFC1 | c.595C= (p.Pro199=) c.480C= (p.Thr160=) c.370C= (p.Pro124=) | |
2 | g.130592954G>T | CA348502386 | CFC1 | c.595C>A (p.Pro199Thr) c.480C>A (p.Thr160=) c.370C>A (p.Pro124Thr) | |
2 | g.130592955G>A | CA348502387 | CFC1 | c.594C>T (p.His198=) c.479C>T (p.Thr160Ile) c.369C>T (p.His123=) | |
2 | g.130592955G>C | CA348502388 | CFC1 | c.594C>G (p.His198Gln) c.479C>G (p.Thr160Ser) c.369C>G (p.His123Gln) | |
2 | g.130592955G>T | CA348502389 | CFC1 | c.594C>A (p.His198Gln) c.479C>A (p.Thr160Asn) c.369C>A (p.His123Gln) | |
2 | g.130592956T>A | CA348502392 | CFC1 | c.593A>T (p.His198Leu) c.478A>T (p.Thr160Ser) c.368A>T (p.His123Leu) | |
2 | g.130592956T>C | CA348502390 | CFC1 | c.593A>G (p.His198Arg) c.478A>G (p.Thr160Ala) c.368A>G (p.His123Arg) | |
2 | g.130592956T>G | CA348502391 | CFC1 | c.593A>C (p.His198Pro) c.478A>C (p.Thr160Pro) c.368A>C (p.His123Pro) | |
2 | g.130592957G>A | CA348502393 | CFC1 | c.592C>T (p.His198Tyr) c.477C>T (p.Arg159=) c.367C>T (p.His123Tyr) | gnomAD v4 |
2 | g.130592957G>C | CA348502394 | CFC1 | c.592C>G (p.His198Asp) c.477C>G (p.Arg159=) c.367C>G (p.His123Asp) | |
2 | g.130592957G>T | CA348502395 | CFC1 | c.592C>A (p.His198Asn) c.477C>A (p.Arg159=) c.367C>A (p.His123Asn) | |
2 | g.130592958C>A | CA348502396 | CFC1 | c.591G>T (p.Ala197=) c.476G>T (p.Arg159Leu) c.366G>T (p.Ala122=) | gnomAD v4 |
2 | g.130592958C= | CA1288363473 | CFC1 | c.591G= (p.Ala197=) c.476G= (p.Arg159=) c.366G= (p.Ala122=) | |
2 | g.130592958C>G | CA348502397 | CFC1 | c.591G>C (p.Ala197=) c.476G>C (p.Arg159Pro) c.366G>C (p.Ala122=) | |
2 | g.130592958C>T | CA348502398 | CFC1 | c.591G>A (p.Ala197=) c.476G>A (p.Arg159His) c.366G>A (p.Ala122=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592959G>A | CA348502399 | CFC1 | c.590C>T (p.Ala197Val) c.475C>T (p.Arg159Cys) c.365C>T (p.Ala122Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592959G>C | CA348502400 | CFC1 | c.590C>G (p.Ala197Gly) c.475C>G (p.Arg159Gly) c.365C>G (p.Ala122Gly) | gnomAD v4 |
2 | g.130592959G= | CA1288363474 | CFC1 | c.590C= (p.Ala197=) c.475C= (p.Arg159=) c.365C= (p.Ala122=) | |
2 | g.130592959G>T | CA348502401 | CFC1 | c.590C>A (p.Ala197Glu) c.475C>A (p.Arg159Ser) c.365C>A (p.Ala122Glu) | |
2 | g.130592959_130592969delinsGCGGGCGCATC | CA1288363475 | CFC1 | c.580_590delinsGATGCGCCCGC (p.Asp194=) c.465_475delinsGATGCGCCCGC (p.Arg155=) c.355_365delinsGATGCGCCCGC (p.Asp119=) | |
2 | g.130592960del | CA2661125018 | CFC1 | c.589del (p.Ala197ArgfsTer?) c.474del (p.Arg159AlafsTer?) c.364del (p.Ala122ArgfsTer?) | gnomAD v4 |
2 | g.130592960C>A | CA348502402 | CFC1 | c.589G>T (p.Ala197Ser) c.474G>T (p.Pro158=) c.364G>T (p.Ala122Ser) | gnomAD v4 |
2 | g.130592960C= | CA1288363476 | CFC1 | c.589G= (p.Ala197=) c.474G= (p.Pro158=) c.364G= (p.Ala122=) | |
2 | g.130592960C>G | CA348502403 | CFC1 | c.589G>C (p.Ala197Pro) c.474G>C (p.Pro158=) c.364G>C (p.Ala122Pro) | |
2 | g.130592960C>T | CA348502404 | CFC1 | c.589G>A (p.Ala197Thr) c.474G>A (p.Pro158=) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v4 |
2 | g.130592968_130592977del | CA914472695 | CFC1 | c.580_589del (p.Asp194ArgfsTer?) c.465_474del (p.Met156AlafsTer?) c.355_364del (p.Asp119ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592961G>A | CA348502405 | CFC1 | c.588C>T (p.Pro196=) c.473C>T (p.Pro158Leu) c.363C>T (p.Pro121=) | dbSNP gnomAD v4 |
2 | g.130592961G>C | CA348502406 | CFC1 | c.588C>G (p.Pro196=) c.473C>G (p.Pro158Arg) c.363C>G (p.Pro121=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592961G= | CA1288363477 | CFC1 | c.588C= (p.Pro196=) c.473C= (p.Pro158=) c.363C= (p.Pro121=) | |
2 | g.130592961G>T | CA290054 | CFC1 | c.588C>A (p.Pro196=) c.473C>A (p.Pro158Gln) c.363C>A (p.Pro121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592963del | CA2661125019 | CFC1 | c.588del (p.Ala197ArgfsTer?) c.473del (p.Pro158ArgfsTer?) c.363del (p.Ala122ArgfsTer?) | gnomAD v4 |
2 | g.130592962G>A | CA348502407 | CFC1 | c.587C>T (p.Pro196Leu) c.472C>T (p.Pro158Ser) c.362C>T (p.Pro121Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592962G>C | CA348502409 | CFC1 | c.587C>G (p.Pro196Arg) c.472C>G (p.Pro158Ala) c.362C>G (p.Pro121Arg) | gnomAD v4 |
2 | g.130592962G= | CA1288363478 | CFC1 | c.587C= (p.Pro196=) c.472C= (p.Pro158=) c.362C= (p.Pro121=) | |
2 | g.130592962G>T | CA348502408 | CFC1 | c.587C>A (p.Pro196His) c.472C>A (p.Pro158Thr) c.362C>A (p.Pro121His) | |
2 | g.130592963G>A | CA348502410 | CFC1 | c.586C>T (p.Pro196Ser) c.471C>T (p.Arg157=) c.361C>T (p.Pro121Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592963G>C | CA348502411 | CFC1 | c.586C>G (p.Pro196Ala) c.471C>G (p.Arg157=) c.361C>G (p.Pro121Ala) | |
2 | g.130592963G= | CA1288363479 | CFC1 | c.586C= (p.Pro196=) c.471C= (p.Arg157=) c.361C= (p.Pro121=) | |
2 | g.130592963G>T | CA348502412 | CFC1 | c.586C>A (p.Pro196Thr) c.471C>A (p.Arg157=) c.361C>A (p.Pro121Thr) | |
2 | g.130592964C>A | CA348502413 | CFC1 | c.585G>T (p.Ala195=) c.470G>T (p.Arg157Leu) c.360G>T (p.Ala120=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.130592964C= | CA1288363480 | CFC1 | c.585G= (p.Ala195=) c.470G= (p.Arg157=) c.360G= (p.Ala120=) | |
2 | g.130592964C>G | CA348502414 | CFC1 | c.585G>C (p.Ala195=) c.470G>C (p.Arg157Pro) c.360G>C (p.Ala120=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592964C>T | CA348502415 | CFC1 | c.585G>A (p.Ala195=) c.470G>A (p.Arg157His) c.360G>A (p.Ala120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592965G>A | CA348502416 | CFC1 | c.584C>T (p.Ala195Val) c.469C>T (p.Arg157Cys) c.359C>T (p.Ala120Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592965G>C | CA348502417 | CFC1 | c.584C>G (p.Ala195Gly) c.469C>G (p.Arg157Gly) c.359C>G (p.Ala120Gly) | |
2 | g.130592965G= | CA1288363481 | CFC1 | c.584C= (p.Ala195=) c.469C= (p.Arg157=) c.359C= (p.Ala120=) | |
2 | g.130592965G>T | CA348502418 | CFC1 | c.584C>A (p.Ala195Glu) c.469C>A (p.Arg157Ser) c.359C>A (p.Ala120Glu) | |
2 | g.130592966C>A | CA348502419 | CFC1 | c.583G>T (p.Ala195Ser) c.468G>T (p.Met156Ile) c.358G>T (p.Ala120Ser) | |
2 | g.130592966C>G | CA348502420 | CFC1 | c.583G>C (p.Ala195Pro) c.468G>C (p.Met156Ile) c.358G>C (p.Ala120Pro) | |
2 | g.130592966C>T | CA348502421 | CFC1 | c.583G>A (p.Ala195Thr) c.468G>A (p.Met156Ile) c.358G>A (p.Ala120Thr) | |
2 | g.130592967A>C | CA348502422 | CFC1 | c.582T>G (p.Asp194Glu) c.467T>G (p.Met156Arg) c.357T>G (p.Asp119Glu) | |
2 | g.130592967A>G | CA348502424 | CFC1 | c.582T>C (p.Asp194=) c.467T>C (p.Met156Thr) c.357T>C (p.Asp119=) | |
2 | g.130592967A>T | CA348502423 | CFC1 | c.582T>A (p.Asp194Glu) c.467T>A (p.Met156Lys) c.357T>A (p.Asp119Glu) | |
2 | g.130592968T>A | CA348502425 | CFC1 | c.581A>T (p.Asp194Val) c.466A>T (p.Met156Leu) c.356A>T (p.Asp119Val) | |
2 | g.130592968T>C | CA348502426 | CFC1 | c.581A>G (p.Asp194Gly) c.466A>G (p.Met156Val) c.356A>G (p.Asp119Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592968T>G | CA348502427 | CFC1 | c.581A>C (p.Asp194Ala) c.466A>C (p.Met156Leu) c.356A>C (p.Asp119Ala) | |
2 | g.130592968T= | CA1288363482 | CFC1 | c.581A= (p.Asp194=) c.466A= (p.Met156=) c.356A= (p.Asp119=) | |
2 | g.130592969C>A | CA348502428 | CFC1 | c.580G>T (p.Asp194Tyr) c.465G>T (p.Arg155=) c.355G>T (p.Asp119Tyr) | |
2 | g.130592969C>G | CA348502429 | CFC1 | c.580G>C (p.Asp194His) c.465G>C (p.Arg155=) c.355G>C (p.Asp119His) | |
2 | g.130592969C>T | CA348502430 | CFC1 | c.580G>A (p.Asp194Asn) c.465G>A (p.Arg155=) c.355G>A (p.Asp119Asn) | |
2 | g.130592970C>A | CA348502431 | CFC1 | c.579G>T (p.Pro193=) c.464G>T (p.Arg155Leu) c.354G>T (p.Pro118=) | |
2 | g.130592970C= | CA1288363483 | CFC1 | c.579G= (p.Pro193=) c.464G= (p.Arg155=) c.354G= (p.Pro118=) | |
2 | g.130592970C>G | CA348502432 | CFC1 | c.579G>C (p.Pro193=) c.464G>C (p.Arg155Pro) c.354G>C (p.Pro118=) | gnomAD v4 |
2 | g.130592970C>T | CA348502433 | CFC1 | c.579G>A (p.Pro193=) c.464G>A (p.Arg155Gln) c.354G>A (p.Pro118=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592971G>A | CA348502435 | CFC1 | c.578C>T (p.Pro193Leu) c.463C>T (p.Arg155Trp) c.353C>T (p.Pro118Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592971G>C | CA348502436 | CFC1 | c.578C>G (p.Pro193Arg) c.463C>G (p.Arg155Gly) c.353C>G (p.Pro118Arg) | gnomAD v4 |
2 | g.130592971G= | CA1288363484 | CFC1 | c.578C= (p.Pro193=) c.463C= (p.Arg155=) c.353C= (p.Pro118=) | |
2 | g.130592971G>T | CA348502434 | CFC1 | c.578C>A (p.Pro193Gln) c.463C>A (p.Arg155=) c.353C>A (p.Pro118Gln) | gnomAD v4 |
2 | g.130592972G>A | CA348502437 | CFC1 | c.577C>T (p.Pro193Ser) c.462C>T (p.Ala154=) c.352C>T (p.Pro118Ser) | gnomAD v4 |
2 | g.130592972G>C | CA348502439 | CFC1 | c.577C>G (p.Pro193Ala) c.462C>G (p.Ala154=) c.352C>G (p.Pro118Ala) | |
2 | g.130592972G>T | CA348502441 | CFC1 | c.577C>A (p.Pro193Thr) c.462C>A (p.Ala154=) c.352C>A (p.Pro118Thr) | gnomAD v4 |
2 | g.130592973G>A | CA348502443 | CFC1 | c.576C>T (p.Arg192=) c.461C>T (p.Ala154Val) c.351C>T (p.Arg117=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.130592973G>C | CA348502445 | CFC1 | c.576C>G (p.Arg192=) c.461C>G (p.Ala154Gly) c.351C>G (p.Arg117=) | dbSNP gnomAD v4 |
2 | g.130592973G= | CA1288363485 | CFC1 | c.576C= (p.Arg192=) c.461C= (p.Ala154=) c.351C= (p.Arg117=) | |
2 | g.130592973G>T | CA348502448 | CFC1 | c.576C>A (p.Arg192=) c.461C>A (p.Ala154Asp) c.351C>A (p.Arg117=) | |
2 | g.130592980_130593001del | CA2752191866 | CFC1 | c.555_576del (p.Leu186ArgfsTer?) c.440_461del (p.His147ProfsTer?) c.330_351del (p.Leu111ArgfsTer?) | |
2 | g.130592974C>A | CA348502450 | CFC1 | c.575G>T (p.Arg192Leu) c.460G>T (p.Ala154Ser) c.350G>T (p.Arg117Leu) | dbSNP |
2 | g.130592974C= | CA1288363487 | CFC1 | c.575G= (p.Arg192=) c.460G= (p.Ala154=) c.350G= (p.Arg117=) | |
2 | g.130592974C>G | CA348502452 | CFC1 | c.575G>C (p.Arg192Pro) c.460G>C (p.Ala154Pro) c.350G>C (p.Arg117Pro) | |
2 | g.130592974C>T | CA348502454 | CFC1 | c.575G>A (p.Arg192His) c.460G>A (p.Ala154Thr) c.350G>A (p.Arg117His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.130592974_130592986delinsCGCAGGAGGCGGT | CA1288363486 | CFC1 | c.563_575delinsACCGCCTCCTGCG (p.His188=) c.448_460delinsACCGCCTCCTGCG (p.Thr150=) c.338_350delinsACCGCCTCCTGCG (p.His113=) | |
2 | g.130592975G>A | CA348502457 | CFC1 | c.574C>T (p.Arg192Cys) c.459C>T (p.Cys153=) c.349C>T (p.Arg117Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592975G>C | CA348502459 | CFC1 | c.574C>G (p.Arg192Gly) c.459C>G (p.Cys153Trp) c.349C>G (p.Arg117Gly) | gnomAD v4 |
2 | g.130592975G= | CA1288363488 | CFC1 | c.574C= (p.Arg192=) c.459C= (p.Cys153=) c.349C= (p.Arg117=) | |
2 | g.130592975G>T | CA348502462 | CFC1 | c.574C>A (p.Arg192Ser) c.459C>A (p.Cys153Ter) c.349C>A (p.Arg117Ser) | gnomAD v4 |
2 | g.130592982_130592993del | CA1036409749 | CFC1 | c.563_574del (p.His188_Leu191del) c.448_459del (p.Thr150_Cys153del) c.338_349del (p.His113_Leu116del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592976C>A | CA348502467 | CFC1 | c.573G>T (p.Leu191=) c.458G>T (p.Cys153Phe) c.348G>T (p.Leu116=) | |
2 | g.130592976C>G | CA348502470 | CFC1 | c.573G>C (p.Leu191=) c.458G>C (p.Cys153Ser) c.348G>C (p.Leu116=) | |
2 | g.130592976C>T | CA348502465 | CFC1 | c.573G>A (p.Leu191=) c.458G>A (p.Cys153Tyr) c.348G>A (p.Leu116=) | |
2 | g.130592977A>C | CA348502473 | CFC1 | c.572T>G (p.Leu191Arg) c.457T>G (p.Cys153Gly) c.347T>G (p.Leu116Arg) | |
2 | g.130592977A>G | CA348502475 | CFC1 | c.572T>C (p.Leu191Pro) c.457T>C (p.Cys153Arg) c.347T>C (p.Leu116Pro) | |
2 | g.130592977A>T | CA348502477 | CFC1 | c.572T>A (p.Leu191Gln) c.457T>A (p.Cys153Ser) c.347T>A (p.Leu116Gln) | |
2 | g.130592978G>A | CA428885247 | CFC1 | c.571C>T (p.Leu191=) c.456C>T (p.Ser152=) c.346C>T (p.Leu116=) | |
2 | g.130592978G>C | CA348502480 | CFC1 | c.571C>G (p.Leu191Val) c.456C>G (p.Ser152=) c.346C>G (p.Leu116Val) | |
2 | g.130592978G>T | CA348502482 | CFC1 | c.571C>A (p.Leu191Met) c.456C>A (p.Ser152=) c.346C>A (p.Leu116Met) | |
2 | g.130592979G>A | CA348502489 | CFC1 | c.570C>T (p.Leu190=) c.455C>T (p.Ser152Phe) c.345C>T (p.Leu115=) | gnomAD v4 |
2 | g.130592979G>C | CA348502484 | CFC1 | c.570C>G (p.Leu190=) c.455C>G (p.Ser152Cys) c.345C>G (p.Leu115=) | |
2 | g.130592979G>T | CA348502487 | CFC1 | c.570C>A (p.Leu190=) c.455C>A (p.Ser152Tyr) c.345C>A (p.Leu115=) | |
2 | g.130592980A>C | CA348502492 | CFC1 | c.569T>G (p.Leu190Arg) c.454T>G (p.Ser152Ala) c.344T>G (p.Leu115Arg) | |
2 | g.130592980A>G | CA348502495 | CFC1 | c.569T>C (p.Leu190Pro) c.454T>C (p.Ser152Pro) c.344T>C (p.Leu115Pro) | |
2 | g.130592980A>T | CA348502497 | CFC1 | c.569T>A (p.Leu190His) c.454T>A (p.Ser152Thr) c.344T>A (p.Leu115His) | |
2 | g.130592981G>A | CA348502499 | CFC1 | c.568C>T (p.Leu190Phe) c.453C>T (p.Ala151=) c.343C>T (p.Leu115Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592981G>C | CA348502500 | CFC1 | c.568C>G (p.Leu190Val) c.453C>G (p.Ala151=) c.343C>G (p.Leu115Val) | |
2 | g.130592981G= | CA1288363489 | CFC1 | c.568C= (p.Leu190=) c.453C= (p.Ala151=) c.343C= (p.Leu115=) | |
2 | g.130592981G>T | CA348502503 | CFC1 | c.568C>A (p.Leu190Ile) c.453C>A (p.Ala151=) c.343C>A (p.Leu115Ile) | |
2 | g.130592982G>A | CA348502508 | CFC1 | c.567C>T (p.Arg189=) c.452C>T (p.Ala151Val) c.342C>T (p.Arg114=) | dbSNP gnomAD v4 |
2 | g.130592982G>C | CA348502510 | CFC1 | c.567C>G (p.Arg189=) c.452C>G (p.Ala151Gly) c.342C>G (p.Arg114=) | |
2 | g.130592982G= | CA1288363490 | CFC1 | c.567C= (p.Arg189=) c.452C= (p.Ala151=) c.342C= (p.Arg114=) | |
2 | g.130592982G>T | CA348502506 | CFC1 | c.567C>A (p.Arg189=) c.452C>A (p.Ala151Asp) c.342C>A (p.Arg114=) | |
2 | g.130592983C>A | CA348502516 | CFC1 | c.566G>T (p.Arg189Leu) c.451G>T (p.Ala151Ser) c.341G>T (p.Arg114Leu) | dbSNP gnomAD v4 |
2 | g.130592983C= | CA1288363491 | CFC1 | c.566G= (p.Arg189=) c.451G= (p.Ala151=) c.341G= (p.Arg114=) | |
2 | g.130592983C>G | CA348502513 | CFC1 | c.566G>C (p.Arg189Pro) c.451G>C (p.Ala151Pro) c.341G>C (p.Arg114Pro) | |
2 | g.130592983C>T | CA348502518 | CFC1 | c.566G>A (p.Arg189His) c.451G>A (p.Ala151Thr) c.341G>A (p.Arg114His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592983_130592989delinsCGGTGCA | CA1288363492 | CFC1 | c.560_566delinsTGCACCG (p.Leu187=) c.445_451delinsTGCACCG (p.Cys149=) c.335_341delinsTGCACCG (p.Leu112=) | |
2 | g.130592984G>A | CA348502521 | CFC1 | c.565C>T (p.Arg189Cys) c.450C>T (p.Thr150=) c.340C>T (p.Arg114Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592984G>C | CA348502525 | CFC1 | c.565C>G (p.Arg189Gly) c.450C>G (p.Thr150=) c.340C>G (p.Arg114Gly) | |
2 | g.130592984G= | CA1288363493 | CFC1 | c.565C= (p.Arg189=) c.450C= (p.Thr150=) c.340C= (p.Arg114=) | |
2 | g.130592984G>T | CA348502523 | CFC1 | c.565C>A (p.Arg189Ser) c.450C>A (p.Thr150=) c.340C>A (p.Arg114Ser) | gnomAD v3 gnomAD v4 |
2 | g.130592986_130592991del | CA756946237 | CFC1 | c.560_565del (p.Leu187_His188del) c.445_450del (p.Cys149_Thr150del) c.335_340del (p.Leu112_His113del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592985G>A | CA348502528 | CFC1 | c.564C>T (p.His188=) c.449C>T (p.Thr150Ile) c.339C>T (p.His113=) | gnomAD v4 |
2 | g.130592985G>C | CA348502533 | CFC1 | c.564C>G (p.His188Gln) c.449C>G (p.Thr150Ser) c.339C>G (p.His113Gln) | |
2 | g.130592985G>T | CA348502531 | CFC1 | c.564C>A (p.His188Gln) c.449C>A (p.Thr150Asn) c.339C>A (p.His113Gln) | |
2 | g.130592986T>A | CA348502536 | CFC1 | c.563A>T (p.His188Leu) c.448A>T (p.Thr150Ser) c.338A>T (p.His113Leu) | |
2 | g.130592986T>C | CA348502538 | CFC1 | c.563A>G (p.His188Arg) c.448A>G (p.Thr150Ala) c.338A>G (p.His113Arg) | |
2 | g.130592986T>G | CA348502541 | CFC1 | c.563A>C (p.His188Pro) c.448A>C (p.Thr150Pro) c.338A>C (p.His113Pro) | |
2 | g.130592987G>A | CA348502544 | CFC1 | c.562C>T (p.His188Tyr) c.447C>T (p.Cys149=) c.337C>T (p.His113Tyr) | |
2 | g.130592987G>C | CA348502546 | CFC1 | c.562C>G (p.His188Asp) c.447C>G (p.Cys149Trp) c.337C>G (p.His113Asp) | |
2 | g.130592987G>T | CA348502548 | CFC1 | c.562C>A (p.His188Asn) c.447C>A (p.Cys149Ter) c.337C>A (p.His113Asn) | |
2 | g.130592988C>A | CA348502555 | CFC1 | c.561G>T (p.Leu187=) c.446G>T (p.Cys149Phe) c.336G>T (p.Leu112=) | |
2 | g.130592988C>G | CA348502551 | CFC1 | c.561G>C (p.Leu187=) c.446G>C (p.Cys149Ser) c.336G>C (p.Leu112=) | |
2 | g.130592988C>T | CA348502553 | CFC1 | c.561G>A (p.Leu187=) c.446G>A (p.Cys149Tyr) c.336G>A (p.Leu112=) | |
2 | g.130592989A= | CA1288363494 | CFC1 | c.560T= (p.Leu187=) c.445T= (p.Cys149=) c.335T= (p.Leu112=) | |
2 | g.130592989A>C | CA348502559 | CFC1 | c.560T>G (p.Leu187Arg) c.445T>G (p.Cys149Gly) c.335T>G (p.Leu112Arg) | |
2 | g.130592989A>G | CA348502561 | CFC1 | c.560T>C (p.Leu187Pro) c.445T>C (p.Cys149Arg) c.335T>C (p.Leu112Pro) | dbSNP gnomAD v4 |
2 | g.130592989A>T | CA348502563 | CFC1 | c.560T>A (p.Leu187Gln) c.445T>A (p.Cys149Ser) c.335T>A (p.Leu112Gln) | |
2 | g.130592990G>A | CA428885267 | CFC1 | c.559C>T (p.Leu187=) c.444C>T (p.Ser148=) c.334C>T (p.Leu112=) | dbSNP |
2 | g.130592990G>C | CA348502566 | CFC1 | c.559C>G (p.Leu187Val) c.444C>G (p.Ser148=) c.334C>G (p.Leu112Val) | |
2 | g.130592990G= | CA1288363495 | CFC1 | c.559C= (p.Leu187=) c.444C= (p.Ser148=) c.334C= (p.Leu112=) | |
2 | g.130592990G>T | CA348502568 | CFC1 | c.559C>A (p.Leu187Met) c.444C>A (p.Ser148=) c.334C>A (p.Leu112Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.130592991G>A | CA348502576 | CFC1 | c.558C>T (p.Leu186=) c.443C>T (p.Ser148Phe) c.333C>T (p.Leu111=) | |
2 | g.130592991G>C | CA348502572 | CFC1 | c.558C>G (p.Leu186=) c.443C>G (p.Ser148Cys) c.333C>G (p.Leu111=) | |
2 | g.130592991G>T | CA348502574 | CFC1 | c.558C>A (p.Leu186=) c.443C>A (p.Ser148Tyr) c.333C>A (p.Leu111=) | |
2 | g.130592992A>C | CA348502579 | CFC1 | c.557T>G (p.Leu186Arg) c.442T>G (p.Ser148Ala) c.332T>G (p.Leu111Arg) | |
2 | g.130592992A>G | CA348502581 | CFC1 | c.557T>C (p.Leu186Pro) c.442T>C (p.Ser148Pro) c.332T>C (p.Leu111Pro) | |
2 | g.130592992A>T | CA348502583 | CFC1 | c.557T>A (p.Leu186His) c.442T>A (p.Ser148Thr) c.332T>A (p.Leu111His) | |
2 | g.130592993G>A | CA348502586 | CFC1 | c.556C>T (p.Leu186Phe) c.441C>T (p.His147=) c.331C>T (p.Leu111Phe) | |
2 | g.130592993G>C | CA348502588 | CFC1 | c.556C>G (p.Leu186Val) c.441C>G (p.His147Gln) c.331C>G (p.Leu111Val) | |
2 | g.130592993G>T | CA348502590 | CFC1 | c.556C>A (p.Leu186Ile) c.441C>A (p.His147Gln) c.331C>A (p.Leu111Ile) | |
2 | g.130592994T>A | CA348502594 | CFC1 | c.555A>T (p.Ala185=) c.440A>T (p.His147Leu) c.330A>T (p.Ala110=) | gnomAD v3 gnomAD v4 |
2 | g.130592994T>C | CA348502596 | CFC1 | c.555A>G (p.Ala185=) c.440A>G (p.His147Arg) c.330A>G (p.Ala110=) | gnomAD v4 |
2 | g.130592994T>G | CA348502598 | CFC1 | c.555A>C (p.Ala185=) c.440A>C (p.His147Pro) c.330A>C (p.Ala110=) | gnomAD v3 gnomAD v4 |
2 | g.130592995G>A | CA348502602 | CFC1 | c.554C>T (p.Ala185Val) c.439C>T (p.His147Tyr) c.329C>T (p.Ala110Val) | |
2 | g.130592995G>C | CA348502603 | CFC1 | c.554C>G (p.Ala185Gly) c.439C>G (p.His147Asp) c.329C>G (p.Ala110Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.130592995G= | CA1288363496 | CFC1 | c.554C= (p.Ala185=) c.439C= (p.His147=) c.329C= (p.Ala110=) | |
2 | g.130592995G>T | CA348502606 | CFC1 | c.554C>A (p.Ala185Glu) c.439C>A (p.His147Asn) c.329C>A (p.Ala110Glu) |