Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508869_45508882delinsGGATAGAGGTGCCA | CA2473783680 | MMACHC | c.503_516delinsGGATAGAGGTGCCA (p.Gly168=) c.332_345delinsGGATAGAGGTGCCA (p.Gly111=) c.308_321delinsGGATAGAGGTGCCA (p.Gly103=) | |
1 | g.45508870_45508883del | CA913075174 | MMACHC | c.504_517del (p.Ile169SerfsTer8) c.333_346del (p.Ile112SerfsTer8) c.309_322del (p.Ile104SerfsTer8) | |
1 | g.45508873_45508885del | CA658821029 | MMACHC | c.507_519del (p.Glu170CysfsTer?) c.336_348del (p.Glu113CysfsTer?) c.312_324del (p.Glu105CysfsTer?) | ClinVar dbSNP |
1 | g.45508872_45508873del | CA2573132352 | MMACHC | c.506_507del (p.Ile169ArgfsTer12) c.335_336del (p.Ile112ArgfsTer12) c.311_312del (p.Ile104ArgfsTer12) | ClinVar dbSNP |
1 | g.45508872T>A | CA340133235 | MMACHC | c.506T>A (p.Ile169Lys) c.335T>A (p.Ile112Lys) c.311T>A (p.Ile104Lys) | |
1 | g.45508872T>C | CA340133237 | MMACHC | c.506T>C (p.Ile169Thr) c.335T>C (p.Ile112Thr) c.311T>C (p.Ile104Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.45508872T>G | CA340133233 | MMACHC | c.506T>G (p.Ile169Arg) c.335T>G (p.Ile112Arg) c.311T>G (p.Ile104Arg) | gnomAD v4 |
1 | g.45508872T= | CA2473783683 | MMACHC | c.506T= (p.Ile169=) c.335T= (p.Ile112=) c.311T= (p.Ile104=) | |
1 | g.45508872_45508874delinsTAG | CA2473783682 | MMACHC | c.506_508delinsTAG (p.Ile169=) c.335_337delinsTAG (p.Ile112=) c.311_313delinsTAG (p.Ile104=) | |
1 | g.45508873del | CA1001244249 | MMACHC | c.507del (p.Ile169MetfsTer?) c.336del (p.Ile112MetfsTer?) c.312del (p.Ile104MetfsTer?) | gnomAD v3 gnomAD v4 |
1 | g.45508873A>C | CA417881351 | MMACHC | c.507A>C (p.Ile169=) c.336A>C (p.Ile112=) c.312A>C (p.Ile104=) | |
1 | g.45508873A>G | CA340133239 | MMACHC | c.507A>G (p.Ile169Met) c.336A>G (p.Ile112Met) c.312A>G (p.Ile104Met) | |
1 | g.45508873A>T | CA417881354 | MMACHC | c.507A>T (p.Ile169=) c.336A>T (p.Ile112=) c.312A>T (p.Ile104=) | |
1 | g.45508875_45508876del | CA522810883 | MMACHC | c.509_510del (p.Glu170GlyfsTer11) c.338_339del (p.Glu113GlyfsTer11) c.314_315del (p.Glu105GlyfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508874G>A | CA340133241 | MMACHC | c.508G>A (p.Glu170Lys) c.337G>A (p.Glu113Lys) c.313G>A (p.Glu105Lys) | |
1 | g.45508874G>C | CA340133243 | MMACHC | c.508G>C (p.Glu170Gln) c.337G>C (p.Glu113Gln) c.313G>C (p.Glu105Gln) | gnomAD v4 |
1 | g.45508874G>T | CA340133245 | MMACHC | c.508G>T (p.Glu170Ter) c.337G>T (p.Glu113Ter) c.313G>T (p.Glu105Ter) | |
1 | g.45508875A>C | CA340133247 | MMACHC | c.509A>C (p.Glu170Ala) c.338A>C (p.Glu113Ala) c.314A>C (p.Glu105Ala) | |
1 | g.45508875A>G | CA340133249 | MMACHC | c.509A>G (p.Glu170Gly) c.338A>G (p.Glu113Gly) c.314A>G (p.Glu105Gly) | |
1 | g.45508875A>T | CA340133251 | MMACHC | c.509A>T (p.Glu170Val) c.338A>T (p.Glu113Val) c.314A>T (p.Glu105Val) | |
1 | g.45508876G>A | CA417881357 | MMACHC | c.510G>A (p.Glu170=) c.339G>A (p.Glu113=) c.315G>A (p.Glu105=) | gnomAD v4 COSMIC |
1 | g.45508876G>C | CA340133255 | MMACHC | c.510G>C (p.Glu170Asp) c.339G>C (p.Glu113Asp) c.315G>C (p.Glu105Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508876G= | CA2473783684 | MMACHC | c.510G= (p.Glu170=) c.339G= (p.Glu113=) c.315G= (p.Glu105=) | |
1 | g.45508876G>T | CA340133253 | MMACHC | c.510G>T (p.Glu170Asp) c.339G>T (p.Glu113Asp) c.315G>T (p.Glu105Asp) | |
1 | g.45508877del | CA2586966642 | MMACHC | c.511del (p.Val171CysfsTer?) c.340del (p.Val114CysfsTer?) c.316del (p.Val106CysfsTer?) | |
1 | g.45508877G>A | CA340133257 | MMACHC | c.511G>A (p.Val171Met) c.340G>A (p.Val114Met) c.316G>A (p.Val106Met) | dbSNP |
1 | g.45508877G>C | CA340133259 | MMACHC | c.511G>C (p.Val171Leu) c.340G>C (p.Val114Leu) c.316G>C (p.Val106Leu) | |
1 | g.45508877G= | CA2473783685 | MMACHC | c.511G= (p.Val171=) c.340G= (p.Val114=) c.316G= (p.Val106=) | |
1 | g.45508877G>T | CA340133261 | MMACHC | c.511G>T (p.Val171Leu) c.340G>T (p.Val114Leu) c.316G>T (p.Val106Leu) | dbSNP |
1 | g.45508878T>A | CA340133263 | MMACHC | c.512T>A (p.Val171Glu) c.341T>A (p.Val114Glu) c.317T>A (p.Val106Glu) | |
1 | g.45508878T>C | CA340133265 | MMACHC | c.512T>C (p.Val171Ala) c.341T>C (p.Val114Ala) c.317T>C (p.Val106Ala) | |
1 | g.45508878T>G | CA340133267 | MMACHC | c.512T>G (p.Val171Gly) c.341T>G (p.Val114Gly) c.317T>G (p.Val106Gly) | gnomAD v4 |
1 | g.45508879G>A | CA417881358 | MMACHC | c.513G>A (p.Val171=) c.342G>A (p.Val114=) c.318G>A (p.Val106=) | gnomAD v4 |
1 | g.45508879G>C | CA417881360 | MMACHC | c.513G>C (p.Val171=) c.342G>C (p.Val114=) c.318G>C (p.Val106=) | |
1 | g.45508879G>T | CA417881362 | MMACHC | c.513G>T (p.Val171=) c.342G>T (p.Val114=) c.318G>T (p.Val106=) | |
1 | g.45508880C>A | CA340133269 | MMACHC | c.514C>A (p.Pro172Thr) c.343C>A (p.Pro115Thr) c.319C>A (p.Pro107Thr) | |
1 | g.45508880C>G | CA340133273 | MMACHC | c.514C>G (p.Pro172Ala) c.343C>G (p.Pro115Ala) c.319C>G (p.Pro107Ala) | |
1 | g.45508880C>T | CA340133271 | MMACHC | c.514C>T (p.Pro172Ser) c.343C>T (p.Pro115Ser) c.319C>T (p.Pro107Ser) | |
1 | g.45508881C>A | CA340133275 | MMACHC | c.515C>A (p.Pro172Gln) c.344C>A (p.Pro115Gln) c.320C>A (p.Pro107Gln) | |
1 | g.45508881C>G | CA340133276 | MMACHC | c.515C>G (p.Pro172Arg) c.344C>G (p.Pro115Arg) c.320C>G (p.Pro107Arg) | |
1 | g.45508881C>T | CA340133278 | MMACHC | c.515C>T (p.Pro172Leu) c.344C>T (p.Pro115Leu) c.320C>T (p.Pro107Leu) | |
1 | g.45508882A>C | CA417881366 | MMACHC | c.516A>C (p.Pro172=) c.345A>C (p.Pro115=) c.321A>C (p.Pro107=) | |
1 | g.45508882A>G | CA417881367 | MMACHC | c.516A>G (p.Pro172=) c.345A>G (p.Pro115=) c.321A>G (p.Pro107=) | gnomAD v4 |
1 | g.45508882A>T | CA417881368 | MMACHC | c.516A>T (p.Pro172=) c.345A>T (p.Pro115=) c.321A>T (p.Pro107=) | |
1 | g.45508883G>A | CA827777 | MMACHC | c.517G>A (p.Asp173Asn) c.346G>A (p.Asp116Asn) c.322G>A (p.Asp108Asn) | dbSNP ExAC gnomAD v2 |
1 | g.45508883G>C | CA340133281 | MMACHC | c.517G>C (p.Asp173His) c.346G>C (p.Asp116His) c.322G>C (p.Asp108His) | gnomAD v4 |
1 | g.45508883G= | CA2473783686 | MMACHC | c.517G= (p.Asp173=) c.346G= (p.Asp116=) c.322G= (p.Asp108=) | |
1 | g.45508883G>T | CA340133283 | MMACHC | c.517G>T (p.Asp173Tyr) c.346G>T (p.Asp116Tyr) c.322G>T (p.Asp108Tyr) | |
1 | g.45508884A>C | CA340133285 | MMACHC | c.518A>C (p.Asp173Ala) c.347A>C (p.Asp116Ala) c.323A>C (p.Asp108Ala) | |
1 | g.45508884A>G | CA340133287 | MMACHC | c.518A>G (p.Asp173Gly) c.347A>G (p.Asp116Gly) c.323A>G (p.Asp108Gly) | |
1 | g.45508884A>T | CA340133289 | MMACHC | c.518A>T (p.Asp173Val) c.347A>T (p.Asp116Val) c.323A>T (p.Asp108Val) | |
1 | g.45508885T>A | CA340133291 | MMACHC | c.519T>A (p.Asp173Glu) c.348T>A (p.Asp116Glu) c.324T>A (p.Asp108Glu) | |
1 | g.45508885T>C | CA417881372 | MMACHC | c.519T>C (p.Asp173=) c.348T>C (p.Asp116=) c.324T>C (p.Asp108=) | gnomAD v4 |
1 | g.45508885T>G | CA340133293 | MMACHC | c.519T>G (p.Asp173Glu) c.348T>G (p.Asp116Glu) c.324T>G (p.Asp108Glu) | |
1 | g.45508886C>A | CA340133297 | MMACHC | c.520C>A (p.Leu174Met) c.349C>A (p.Leu117Met) c.325C>A (p.Leu109Met) | |
1 | g.45508886C= | CA2473783687 | MMACHC | c.520C= (p.Leu174=) c.349C= (p.Leu117=) c.325C= (p.Leu109=) | |
1 | g.45508886C>G | CA340133295 | MMACHC | c.520C>G (p.Leu174Val) c.349C>G (p.Leu117Val) c.325C>G (p.Leu109Val) | |
1 | g.45508886C>T | CA417881374 | MMACHC | c.520C>T (p.Leu174=) c.349C>T (p.Leu117=) c.325C>T (p.Leu109=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508887T>A | CA340133299 | MMACHC | c.521T>A (p.Leu174Gln) c.350T>A (p.Leu117Gln) c.326T>A (p.Leu109Gln) | |
1 | g.45508887T>C | CA340133302 | MMACHC | c.521T>C (p.Leu174Pro) c.350T>C (p.Leu117Pro) c.326T>C (p.Leu109Pro) | |
1 | g.45508887T>G | CA340133300 | MMACHC | c.521T>G (p.Leu174Arg) c.350T>G (p.Leu117Arg) c.326T>G (p.Leu109Arg) | |
1 | g.45508888G>A | CA417881377 | MMACHC | c.522G>A (p.Leu174=) c.351G>A (p.Leu117=) c.327G>A (p.Leu109=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508888G>C | CA417881379 | MMACHC | c.522G>C (p.Leu174=) c.351G>C (p.Leu117=) c.327G>C (p.Leu109=) | |
1 | g.45508888G= | CA2473783688 | MMACHC | c.522G= (p.Leu174=) c.351G= (p.Leu117=) c.327G= (p.Leu109=) | |
1 | g.45508888G>T | CA417881380 | MMACHC | c.522G>T (p.Leu174=) c.351G>T (p.Leu117=) c.327G>T (p.Leu109=) | |
1 | g.45508889C>A | CA340133304 | MMACHC | c.523C>A (p.Pro175Thr) c.352C>A (p.Pro118Thr) c.328C>A (p.Pro110Thr) | gnomAD v4 |
1 | g.45508889C= | CA2473783689 | MMACHC | c.523C= (p.Pro175=) c.352C= (p.Pro118=) c.328C= (p.Pro110=) | |
1 | g.45508889C>G | CA340133305 | MMACHC | c.523C>G (p.Pro175Ala) c.352C>G (p.Pro118Ala) c.328C>G (p.Pro110Ala) | |
1 | g.45508889C>T | CA827778 | MMACHC | c.523C>T (p.Pro175Ser) c.352C>T (p.Pro118Ser) c.328C>T (p.Pro110Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508890C>A | CA340133308 | MMACHC | c.524C>A (p.Pro175Gln) c.353C>A (p.Pro118Gln) c.329C>A (p.Pro110Gln) | |
1 | g.45508890C= | CA2473783690 | MMACHC | c.524C= (p.Pro175=) c.353C= (p.Pro118=) c.329C= (p.Pro110=) | |
1 | g.45508890C>G | CA340133309 | MMACHC | c.524C>G (p.Pro175Arg) c.353C>G (p.Pro118Arg) c.329C>G (p.Pro110Arg) | |
1 | g.45508890C>T | CA827779 | MMACHC | c.524C>T (p.Pro175Leu) c.353C>T (p.Pro118Leu) c.329C>T (p.Pro110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508891A>C | CA417881383 | MMACHC | c.525A>C (p.Pro175=) c.354A>C (p.Pro118=) c.330A>C (p.Pro110=) | |
1 | g.45508891A>G | CA417881384 | MMACHC | c.525A>G (p.Pro175=) c.354A>G (p.Pro118=) c.330A>G (p.Pro110=) | |
1 | g.45508891A>T | CA417881385 | MMACHC | c.525A>T (p.Pro175=) c.354A>T (p.Pro118=) c.330A>T (p.Pro110=) | |
1 | g.45508892C>A | CA340133313 | MMACHC | c.526C>A (p.Pro176Thr) c.355C>A (p.Pro119Thr) c.331C>A (p.Pro111Thr) | |
1 | g.45508892C= | CA2473783691 | MMACHC | c.526C= (p.Pro176=) c.355C= (p.Pro119=) c.331C= (p.Pro111=) | |
1 | g.45508892C>G | CA340133315 | MMACHC | c.526C>G (p.Pro176Ala) c.355C>G (p.Pro119Ala) c.331C>G (p.Pro111Ala) | |
1 | g.45508892C>T | CA21829704 | MMACHC | c.526C>T (p.Pro176Ser) c.355C>T (p.Pro119Ser) c.331C>T (p.Pro111Ser) | dbSNP gnomAD v4 |
1 | g.45508893C>A | CA340133317 | MMACHC | c.527C>A (p.Pro176His) c.356C>A (p.Pro119His) c.332C>A (p.Pro111His) | |
1 | g.45508893C= | CA2473783692 | MMACHC | c.527C= (p.Pro176=) c.356C= (p.Pro119=) c.332C= (p.Pro111=) | |
1 | g.45508893C>G | CA340133319 | MMACHC | c.527C>G (p.Pro176Arg) c.356C>G (p.Pro119Arg) c.332C>G (p.Pro111Arg) | |
1 | g.45508893C>T | CA21829708 | MMACHC | c.527C>T (p.Pro176Leu) c.356C>T (p.Pro119Leu) c.332C>T (p.Pro111Leu) | dbSNP gnomAD v4 |
1 | g.45508894C>A | CA417881387 | MMACHC | c.528C>A (p.Pro176=) c.357C>A (p.Pro119=) c.333C>A (p.Pro111=) | |
1 | g.45508894C>G | CA417881388 | MMACHC | c.528C>G (p.Pro176=) c.357C>G (p.Pro119=) c.333C>G (p.Pro111=) | |
1 | g.45508894C>T | CA417881389 | MMACHC | c.528C>T (p.Pro176=) c.357C>T (p.Pro119=) c.333C>T (p.Pro111=) | |
1 | g.45508895A= | CA2473783693 | MMACHC | c.529A= (p.Arg177=) c.358A= (p.Arg120=) c.334A= (p.Arg112=) | |
1 | g.45508895A>C | CA417881390 | MMACHC | c.529A>C (p.Arg177=) c.358A>C (p.Arg120=) c.334A>C (p.Arg112=) | |
1 | g.45508895A>G | CA340133323 | MMACHC | c.529A>G (p.Arg177Gly) c.358A>G (p.Arg120Gly) c.334A>G (p.Arg112Gly) | dbSNP |
1 | g.45508895A>T | CA340133324 | MMACHC | c.529A>T (p.Arg177Ter) c.358A>T (p.Arg120Ter) c.334A>T (p.Arg112Ter) | |
1 | g.45508896G>A | CA340133327 | MMACHC | c.530G>A (p.Arg177Lys) c.359G>A (p.Arg120Lys) c.335G>A (p.Arg112Lys) | |
1 | g.45508896G>C | CA340133328 | MMACHC | c.530G>C (p.Arg177Thr) c.359G>C (p.Arg120Thr) c.335G>C (p.Arg112Thr) | gnomAD v4 |
1 | g.45508896G>T | CA340133329 | MMACHC | c.530G>T (p.Arg177Ile) c.359G>T (p.Arg120Ile) c.335G>T (p.Arg112Ile) | |
1 | g.45508897A= | CA2473783694 | MMACHC | c.531A= (p.Arg177=) c.360A= (p.Arg120=) c.336A= (p.Arg112=) | |
1 | g.45508897A>C | CA340133331 | MMACHC | c.531A>C (p.Arg177Ser) c.360A>C (p.Arg120Ser) c.336A>C (p.Arg112Ser) | |
1 | g.45508897A>G | CA417881394 | MMACHC | c.531A>G (p.Arg177=) c.360A>G (p.Arg120=) c.336A>G (p.Arg112=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508897A>T | CA340133333 | MMACHC | c.531A>T (p.Arg177Ser) c.360A>T (p.Arg120Ser) c.336A>T (p.Arg112Ser) | |
1 | g.45508900del | CA2573132353 | MMACHC | c.534del (p.Lys178AsnfsTer?) c.363del (p.Lys121AsnfsTer?) c.339del (p.Lys113AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.45508898A= | CA2473783695 | MMACHC | c.532A= (p.Lys178=) c.361A= (p.Lys121=) c.337A= (p.Lys113=) | |
1 | g.45508898A>C | CA340133335 | MMACHC | c.532A>C (p.Lys178Gln) c.361A>C (p.Lys121Gln) c.337A>C (p.Lys113Gln) | |
1 | g.45508898A>G | CA340133337 | MMACHC | c.532A>G (p.Lys178Glu) c.361A>G (p.Lys121Glu) c.337A>G (p.Lys113Glu) | |
1 | g.45508898A>T | CA340133339 | MMACHC | c.532A>T (p.Lys178Ter) c.361A>T (p.Lys121Ter) c.337A>T (p.Lys113Ter) | dbSNP |
1 | g.45508899A>C | CA340133340 | MMACHC | c.533A>C (p.Lys178Thr) c.362A>C (p.Lys121Thr) c.338A>C (p.Lys113Thr) | |
1 | g.45508899A>G | CA340133341 | MMACHC | c.533A>G (p.Lys178Arg) c.362A>G (p.Lys121Arg) c.338A>G (p.Lys113Arg) | gnomAD v4 |
1 | g.45508899A>T | CA340133343 | MMACHC | c.533A>T (p.Lys178Ile) c.362A>T (p.Lys121Ile) c.338A>T (p.Lys113Ile) | |
1 | g.45508900A= | CA2473783696 | MMACHC | c.534A= (p.Lys178=) c.363A= (p.Lys121=) c.339A= (p.Lys113=) | |
1 | g.45508900A>C | CA340133346 | MMACHC | c.534A>C (p.Lys178Asn) c.363A>C (p.Lys121Asn) c.339A>C (p.Lys113Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508900A>G | CA417881396 | MMACHC | c.534A>G (p.Lys178=) c.363A>G (p.Lys121=) c.339A>G (p.Lys113=) | |
1 | g.45508900A>T | CA340133347 | MMACHC | c.534A>T (p.Lys178Asn) c.363A>T (p.Lys121Asn) c.339A>T (p.Lys113Asn) | |
1 | g.45508901C>A | CA340133352 | MMACHC | c.535C>A (p.Pro179Thr) c.364C>A (p.Pro122Thr) c.340C>A (p.Pro114Thr) | |
1 | g.45508901C>G | CA340133354 | MMACHC | c.535C>G (p.Pro179Ala) c.364C>G (p.Pro122Ala) c.340C>G (p.Pro114Ala) | |
1 | g.45508901C>T | CA340133350 | MMACHC | c.535C>T (p.Pro179Ser) c.364C>T (p.Pro122Ser) c.340C>T (p.Pro114Ser) | |
1 | g.45508902C>A | CA340133357 | MMACHC | c.536C>A (p.Pro179His) c.365C>A (p.Pro122His) c.341C>A (p.Pro114His) | |
1 | g.45508902C= | CA1143583376 | MMACHC | c.536C= (p.Pro179=) c.365C= (p.Pro122=) c.341C= (p.Pro114=) | |
1 | g.45508902C>G | CA21829711 | MMACHC | c.536C>G (p.Pro179Arg) c.365C>G (p.Pro122Arg) c.341C>G (p.Pro114Arg) | dbSNP gnomAD v4 |
1 | g.45508902C>T | CA340133359 | MMACHC | c.536C>T (p.Pro179Leu) c.365C>T (p.Pro122Leu) c.341C>T (p.Pro114Leu) | |
1 | g.45508902_45508905delinsCTCA | CA2473783697 | MMACHC | c.536_539delinsCTCA (p.Pro179=) c.365_368delinsCTCA (p.Pro122=) c.341_344delinsCTCA (p.Pro114=) | |
1 | g.45508902_45508903insAT | CA913185032 | MMACHC | c.536_537insAT (p.His180PhefsTer?) c.365_366insAT (p.His123PhefsTer?) c.341_342insAT (p.His115PhefsTer?) | |
1 | g.45508902_45508903insCG | CA2743432426 | MMACHC | c.536_537insCG (p.His180ValfsTer?) c.365_366insCG (p.His123ValfsTer?) c.341_342insCG (p.His115ValfsTer?) | |
1 | g.45508903T>A | CA417881400 | MMACHC | c.537T>A (p.Pro179=) c.366T>A (p.Pro122=) c.342T>A (p.Pro114=) | |
1 | g.45508903T>C | CA417881402 | MMACHC | c.537T>C (p.Pro179=) c.366T>C (p.Pro122=) c.342T>C (p.Pro114=) | gnomAD v4 |
1 | g.45508903T>G | CA417881401 | MMACHC | c.537T>G (p.Pro179=) c.366T>G (p.Pro122=) c.342T>G (p.Pro114=) | |
1 | g.45508904_45508906del | CA736191505 | MMACHC | c.538_540del (p.His180del) c.367_369del (p.His123del) c.343_345del (p.His115del) | dbSNP |
1 | g.45508904C>A | CA340133361 | MMACHC | c.538C>A (p.His180Asn) c.367C>A (p.His123Asn) c.343C>A (p.His115Asn) | |
1 | g.45508904C>G | CA340133364 | MMACHC | c.538C>G (p.His180Asp) c.367C>G (p.His123Asp) c.343C>G (p.His115Asp) | |
1 | g.45508904C>T | CA340133363 | MMACHC | c.538C>T (p.His180Tyr) c.367C>T (p.His123Tyr) c.343C>T (p.His115Tyr) | |
1 | g.45508904_45508905del | CA2743432429 | MMACHC | c.538_539del (p.His180Ter) c.367_368del (p.His123Ter) c.343_344del (p.His115Ter) | |
1 | g.45508904_45508906delinsCAT | CA2473783698 | MMACHC | c.538_540delinsCAT (p.His180=) c.367_369delinsCAT (p.His123=) c.343_345delinsCAT (p.His115=) | |
1 | g.45508905A= | CA2473783699 | MMACHC | c.539A= (p.His180=) c.368A= (p.His123=) c.344A= (p.His115=) | |
1 | g.45508905A>C | CA340133367 | MMACHC | c.539A>C (p.His180Pro) c.368A>C (p.His123Pro) c.344A>C (p.His115Pro) | |
1 | g.45508905A>G | CA340133369 | MMACHC | c.539A>G (p.His180Arg) c.368A>G (p.His123Arg) c.344A>G (p.His115Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508905A>T | CA340133371 | MMACHC | c.539A>T (p.His180Leu) c.368A>T (p.His123Leu) c.344A>T (p.His115Leu) | |
1 | g.45508905_45508906del | CA522810887 | MMACHC | c.539_540del (p.His180ArgfsTer8) c.368_369del (p.His123ArgfsTer8) c.344_345del (p.His115ArgfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508905_45508913del | CA913075175 | MMACHC | c.539_547del (p.His180_Val183delinsLeu) c.368_376del (p.His123_Val126delinsLeu) c.344_352del (p.His115_Val118delinsLeu) | |
1 | g.45508905_45508913delinsATGACTGTG | CA2473783700 | MMACHC | c.539_547delinsATGACTGTG (p.His180=) c.368_376delinsATGACTGTG (p.His123=) c.344_352delinsATGACTGTG (p.His115=) | |
1 | g.45508906T>A | CA340133373 | MMACHC | c.540T>A (p.His180Gln) c.369T>A (p.His123Gln) c.345T>A (p.His115Gln) | |
1 | g.45508906T>C | CA827780 | MMACHC | c.540T>C (p.His180=) c.369T>C (p.His123=) c.345T>C (p.His115=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508906T>G | CA340133375 | MMACHC | c.540T>G (p.His180Gln) c.369T>G (p.His123Gln) c.345T>G (p.His115Gln) | |
1 | g.45508906T= | CA2473783701 | MMACHC | c.540T= (p.His180=) c.369T= (p.His123=) c.345T= (p.His115=) | |
1 | g.45508908_45508911dup | CA2695198018 | MMACHC | c.542_545dup (p.Cys182Ter) c.371_374dup (p.Cys125Ter) c.347_350dup (p.Cys117Ter) | ClinVar |
1 | g.45508907_45508914del | CA658821030 | MMACHC | c.541_548del (p.Asp181ThrfsTer5) c.370_377del (p.Asp124ThrfsTer5) c.346_353del (p.Asp116ThrfsTer5) | ClinVar dbSNP |
1 | g.45508907G>A | CA827782 | MMACHC | c.541G>A (p.Asp181Asn) c.370G>A (p.Asp124Asn) c.346G>A (p.Asp116Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508907G>C | CA340133377 | MMACHC | c.541G>C (p.Asp181His) c.370G>C (p.Asp124His) c.346G>C (p.Asp116His) | |
1 | g.45508907G= | CA2473783702 | MMACHC | c.541G= (p.Asp181=) c.370G= (p.Asp124=) c.346G= (p.Asp116=) | |
1 | g.45508907G>T | CA827781 | MMACHC | c.541G>T (p.Asp181Tyr) c.370G>T (p.Asp124Tyr) c.346G>T (p.Asp116Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508908A>C | CA340133381 | MMACHC | c.542A>C (p.Asp181Ala) c.371A>C (p.Asp124Ala) c.347A>C (p.Asp116Ala) | |
1 | g.45508908A>G | CA340133383 | MMACHC | c.542A>G (p.Asp181Gly) c.371A>G (p.Asp124Gly) c.347A>G (p.Asp116Gly) | |
1 | g.45508908A>T | CA340133385 | MMACHC | c.542A>T (p.Asp181Val) c.371A>T (p.Asp124Val) c.347A>T (p.Asp116Val) | |
1 | g.45508908_45508910dup | CA2645391255 | MMACHC | c.542_544dup (p.Asp181_Cys182insTyr) c.371_373dup (p.Asp124_Cys125insTyr) c.347_349dup (p.Asp116_Cys117insTyr) | gnomAD v4 |
1 | g.45508909C>A | CA340133387 | MMACHC | c.543C>A (p.Asp181Glu) c.372C>A (p.Asp124Glu) c.348C>A (p.Asp116Glu) | |
1 | g.45508909C>G | CA340133389 | MMACHC | c.543C>G (p.Asp181Glu) c.372C>G (p.Asp124Glu) c.348C>G (p.Asp116Glu) | |
1 | g.45508909C>T | CA417881409 | MMACHC | c.543C>T (p.Asp181=) c.372C>T (p.Asp124=) c.348C>T (p.Asp116=) | |
1 | g.45508909_45508911delinsCTG | CA2473783703 | MMACHC | c.543_545delinsCTG (p.Asp181=) c.372_374delinsCTG (p.Asp124=) c.348_350delinsCTG (p.Asp116=) | |
1 | g.45508910T>A | CA340133391 | MMACHC | c.544T>A (p.Cys182Ser) c.373T>A (p.Cys125Ser) c.349T>A (p.Cys117Ser) | |
1 | g.45508910T>C | CA21829729 | MMACHC | c.544T>C (p.Cys182Arg) c.373T>C (p.Cys125Arg) c.349T>C (p.Cys117Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508910T>G | CA340133392 | MMACHC | c.544T>G (p.Cys182Gly) c.373T>G (p.Cys125Gly) c.349T>G (p.Cys117Gly) | |
1 | g.45508910T= | CA2473783704 | MMACHC | c.544T= (p.Cys182=) c.373T= (p.Cys125=) c.349T= (p.Cys117=) | |
1 | g.45508913_45508914del | CA223192 | MMACHC | c.547_548del (p.Val183ThrfsTer5) c.376_377del (p.Val126ThrfsTer5) c.352_353del (p.Val118ThrfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508910_45508911insC | CA522810890 | MMACHC | c.544_545insC (p.Cys182SerfsTer7) c.373_374insC (p.Cys125SerfsTer7) c.349_350insC (p.Cys117SerfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508911G>A | CA827783 | MMACHC | c.545G>A (p.Cys182Tyr) c.374G>A (p.Cys125Tyr) c.350G>A (p.Cys117Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508911G>C | CA827784 | MMACHC | c.545G>C (p.Cys182Ser) c.374G>C (p.Cys125Ser) c.350G>C (p.Cys117Ser) | dbSNP ExAC gnomAD v2 |
1 | g.45508911G= | CA1143833310 | MMACHC | c.545G= (p.Cys182=) c.374G= (p.Cys125=) c.350G= (p.Cys117=) | |
1 | g.45508911G>T | CA340133396 | MMACHC | c.545G>T (p.Cys182Phe) c.374G>T (p.Cys125Phe) c.350G>T (p.Cys117Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508912T>A | CA340133397 | MMACHC | c.546T>A (p.Cys182Ter) c.375T>A (p.Cys125Ter) c.351T>A (p.Cys117Ter) | |
1 | g.45508912T>C | CA417881413 | MMACHC | c.546T>C (p.Cys182=) c.375T>C (p.Cys125=) c.351T>C (p.Cys117=) | ClinVar dbSNP gnomAD v4 |
1 | g.45508912T>G | CA340133398 | MMACHC | c.546T>G (p.Cys182Trp) c.375T>G (p.Cys125Trp) c.351T>G (p.Cys117Trp) | |
1 | g.45508913G>A | CA340133401 | MMACHC | c.547G>A (p.Val183Ile) c.376G>A (p.Val126Ile) c.352G>A (p.Val118Ile) | ClinVar |
1 | g.45508913G>C | CA340133403 | MMACHC | c.547G>C (p.Val183Leu) c.376G>C (p.Val126Leu) c.352G>C (p.Val118Leu) | |
1 | g.45508913G= | CA2473783705 | MMACHC | c.547G= (p.Val183=) c.376G= (p.Val126=) c.352G= (p.Val118=) | |
1 | g.45508913G>T | CA340133404 | MMACHC | c.547G>T (p.Val183Leu) c.376G>T (p.Val126Leu) c.352G>T (p.Val118Leu) | |
1 | g.45508914del | CA2645391257 | MMACHC | c.548del (p.Val183AspfsTer27) c.377del (p.Val126AspfsTer27) c.353del (p.Val118AspfsTer27) | gnomAD v4 |
1 | g.45508914T>A | CA340133409 | MMACHC | c.548T>A (p.Val183Glu) c.377T>A (p.Val126Glu) c.353T>A (p.Val118Glu) | |
1 | g.45508914T>C | CA827786 | MMACHC | c.548T>C (p.Val183Ala) c.377T>C (p.Val126Ala) c.353T>C (p.Val118Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508914T>G | CA340133408 | MMACHC | c.548T>G (p.Val183Gly) c.377T>G (p.Val126Gly) c.353T>G (p.Val118Gly) | |
1 | g.45508914T= | CA2473783706 | MMACHC | c.548T= (p.Val183=) c.377T= (p.Val126=) c.353T= (p.Val118=) | |
1 | g.45508914dup | CA522810891 | MMACHC | c.548dup (p.Pro184ThrfsTer5) c.377dup (p.Pro127ThrfsTer5) c.353dup (p.Pro119ThrfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508917_45508920dup | CA827785 | MMACHC | c.551_554dup (p.Arg186TyrfsTer4) c.380_383dup (p.Arg129TyrfsTer4) c.356_359dup (p.Arg121TyrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508915A>C | CA417881418 | MMACHC | c.549A>C (p.Val183=) c.378A>C (p.Val126=) c.354A>C (p.Val118=) | ClinVar |
1 | g.45508915A>G | CA417881419 | MMACHC | c.549A>G (p.Val183=) c.378A>G (p.Val126=) c.354A>G (p.Val118=) | gnomAD v4 |
1 | g.45508915A>T | CA417881420 | MMACHC | c.549A>T (p.Val183=) c.378A>T (p.Val126=) c.354A>T (p.Val118=) | |
1 | g.45508916C>A | CA340133413 | MMACHC | c.550C>A (p.Pro184Thr) c.379C>A (p.Pro127Thr) c.355C>A (p.Pro119Thr) | dbSNP |
1 | g.45508916C= | CA1148567635 | MMACHC | c.550C= (p.Pro184=) c.379C= (p.Pro127=) c.355C= (p.Pro119=) | |
1 | g.45508916C>G | CA340133414 | MMACHC | c.550C>G (p.Pro184Ala) c.379C>G (p.Pro127Ala) c.355C>G (p.Pro119Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508916C>T | CA827787 | MMACHC | c.550C>T (p.Pro184Ser) c.379C>T (p.Pro127Ser) c.355C>T (p.Pro119Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508917C>A | CA340133417 | MMACHC | c.551C>A (p.Pro184His) c.380C>A (p.Pro127His) c.356C>A (p.Pro119His) | |
1 | g.45508917C= | CA2473783707 | MMACHC | c.551C= (p.Pro184=) c.380C= (p.Pro127=) c.356C= (p.Pro119=) | |
1 | g.45508917C>G | CA340133418 | MMACHC | c.551C>G (p.Pro184Arg) c.380C>G (p.Pro127Arg) c.356C>G (p.Pro119Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508917C>T | CA340133420 | MMACHC | c.551C>T (p.Pro184Leu) c.380C>T (p.Pro127Leu) c.356C>T (p.Pro119Leu) | |
1 | g.45508918T>A | CA417881425 | MMACHC | c.552T>A (p.Pro184=) c.381T>A (p.Pro127=) c.357T>A (p.Pro119=) | COSMIC |
1 | g.45508918T>C | CA417881427 | MMACHC | c.552T>C (p.Pro184=) c.381T>C (p.Pro127=) c.357T>C (p.Pro119=) | |
1 | g.45508918T>G | CA417881426 | MMACHC | c.552T>G (p.Pro184=) c.381T>G (p.Pro127=) c.357T>G (p.Pro119=) | |
1 | g.45508919A= | CA2473783708 | MMACHC | c.553A= (p.Thr185=) c.382A= (p.Thr128=) c.358A= (p.Thr120=) | |
1 | g.45508919A>C | CA340133426 | MMACHC | c.553A>C (p.Thr185Pro) c.382A>C (p.Thr128Pro) c.358A>C (p.Thr120Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508919A>G | CA340133422 | MMACHC | c.553A>G (p.Thr185Ala) c.382A>G (p.Thr128Ala) c.358A>G (p.Thr120Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508919A>T | CA340133424 | MMACHC | c.553A>T (p.Thr185Ser) c.382A>T (p.Thr128Ser) c.358A>T (p.Thr120Ser) | |
1 | g.45508920C>A | CA340133428 | MMACHC | c.554C>A (p.Thr185Lys) c.383C>A (p.Thr128Lys) c.359C>A (p.Thr120Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508920C= | CA1143481039 | MMACHC | c.554C= (p.Thr185=) c.383C= (p.Thr128=) c.359C= (p.Thr120=) | |
1 | g.45508920C>G | CA827788 | MMACHC | c.554C>G (p.Thr185Arg) c.383C>G (p.Thr128Arg) c.359C>G (p.Thr120Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508920C>T | CA340133430 | MMACHC | c.554C>T (p.Thr185Ile) c.383C>T (p.Thr128Ile) c.359C>T (p.Thr120Ile) | |
1 | g.45508921A>C | CA417881428 | MMACHC | c.555A>C (p.Thr185=) c.384A>C (p.Thr128=) c.360A>C (p.Thr120=) | gnomAD v4 |
1 | g.45508921A>G | CA417881429 | MMACHC | c.555A>G (p.Thr185=) c.384A>G (p.Thr128=) c.360A>G (p.Thr120=) | gnomAD v4 |
1 | g.45508921A>T | CA417881430 | MMACHC | c.555A>T (p.Thr185=) c.384A>T (p.Thr128=) c.360A>T (p.Thr120=) | |
1 | g.45508922A>C | CA417881432 | MMACHC | c.556A>C (p.Arg186=) c.385A>C (p.Arg129=) c.361A>C (p.Arg121=) | |
1 | g.45508922A>G | CA340133432 | MMACHC | c.556A>G (p.Arg186Gly) c.385A>G (p.Arg129Gly) c.361A>G (p.Arg121Gly) | gnomAD v4 |
1 | g.45508922A>T | CA340133434 | MMACHC | c.556A>T (p.Arg186Ter) c.385A>T (p.Arg129Ter) c.361A>T (p.Arg121Ter) | |
1 | g.45508923G>A | CA827789 | MMACHC | c.557G>A (p.Arg186Lys) c.386G>A (p.Arg129Lys) c.362G>A (p.Arg121Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508923G>C | CA340133439 | MMACHC | c.557G>C (p.Arg186Thr) c.386G>C (p.Arg129Thr) c.362G>C (p.Arg121Thr) | |
1 | g.45508923G= | CA2473783709 | MMACHC | c.557G= (p.Arg186=) c.386G= (p.Arg129=) c.362G= (p.Arg121=) | |
1 | g.45508923G>T | CA340133436 | MMACHC | c.557G>T (p.Arg186Ile) c.386G>T (p.Arg129Ile) c.362G>T (p.Arg121Ile) | |
1 | g.45508924A>C | CA340133441 | MMACHC | c.558A>C (p.Arg186Ser) c.387A>C (p.Arg129Ser) c.363A>C (p.Arg121Ser) | |
1 | g.45508924A>G | CA417881435 | MMACHC | c.558A>G (p.Arg186=) c.387A>G (p.Arg129=) c.363A>G (p.Arg121=) | |
1 | g.45508924A>T | CA340133443 | MMACHC | c.558A>T (p.Arg186Ser) c.387A>T (p.Arg129Ser) c.363A>T (p.Arg121Ser) | |
1 | g.45508924_45508936del | CA913075176 | MMACHC | c.558_570del (p.Ala187ProfsTer19) c.387_399del (p.Ala130ProfsTer19) c.363_375del (p.Ala122ProfsTer19) | |
1 | g.45508924_45508936delinsAGCTGACCGTATC | CA2473783710 | MMACHC | c.558_570delinsAGCTGACCGTATC (p.Arg186=) c.387_399delinsAGCTGACCGTATC (p.Arg129=) c.363_375delinsAGCTGACCGTATC (p.Arg121=) | |
1 | g.45508925G>A | CA340133445 | MMACHC | c.559G>A (p.Ala187Thr) c.388G>A (p.Ala130Thr) c.364G>A (p.Ala122Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508925G>C | CA340133447 | MMACHC | c.559G>C (p.Ala187Pro) c.388G>C (p.Ala130Pro) c.364G>C (p.Ala122Pro) | gnomAD v4 |
1 | g.45508925G= | CA2473783711 | MMACHC | c.559G= (p.Ala187=) c.388G= (p.Ala130=) c.364G= (p.Ala122=) | |
1 | g.45508925G>T | CA340133449 | MMACHC | c.559G>T (p.Ala187Ser) c.388G>T (p.Ala130Ser) c.364G>T (p.Ala122Ser) | |
1 | g.45508927_45508938del | CA658821031 | MMACHC | c.561_572del (p.Asp188_Ala191del) c.390_401del (p.Asp131_Ala134del) c.366_377del (p.Asp123_Ala126del) | ClinVar dbSNP |
1 | g.45508926C>A | CA340133451 | MMACHC | c.560C>A (p.Ala187Asp) c.389C>A (p.Ala130Asp) c.365C>A (p.Ala122Asp) | |
1 | g.45508926C>G | CA340133453 | MMACHC | c.560C>G (p.Ala187Gly) c.389C>G (p.Ala130Gly) c.365C>G (p.Ala122Gly) | |
1 | g.45508926C>T | CA340133454 | MMACHC | c.560C>T (p.Ala187Val) c.389C>T (p.Ala130Val) c.365C>T (p.Ala122Val) | |
1 | g.45508927T>A | CA417881439 | MMACHC | c.561T>A (p.Ala187=) c.390T>A (p.Ala130=) c.366T>A (p.Ala122=) | |
1 | g.45508927T>C | CA417881441 | MMACHC | c.561T>C (p.Ala187=) c.390T>C (p.Ala130=) c.366T>C (p.Ala122=) | |
1 | g.45508927T>G | CA417881442 | MMACHC | c.561T>G (p.Ala187=) c.390T>G (p.Ala130=) c.366T>G (p.Ala122=) | |
1 | g.45508928G>A | CA827790 | MMACHC | c.562G>A (p.Asp188Asn) c.391G>A (p.Asp131Asn) c.367G>A (p.Asp123Asn) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.45508928G>C | CA340133458 | MMACHC | c.562G>C (p.Asp188His) c.391G>C (p.Asp131His) c.367G>C (p.Asp123His) | |
1 | g.45508928G= | CA1149038854 | MMACHC | c.562G= (p.Asp188=) c.391G= (p.Asp131=) c.367G= (p.Asp123=) | |
1 | g.45508928G>T | CA340133460 | MMACHC | c.562G>T (p.Asp188Tyr) c.391G>T (p.Asp131Tyr) c.367G>T (p.Asp123Tyr) | |
1 | g.45508929A>C | CA340133463 | MMACHC | c.563A>C (p.Asp188Ala) c.392A>C (p.Asp131Ala) c.368A>C (p.Asp123Ala) | |
1 | g.45508929A>G | CA340133467 | MMACHC | c.563A>G (p.Asp188Gly) c.392A>G (p.Asp131Gly) c.368A>G (p.Asp123Gly) | |
1 | g.45508929A>T | CA340133465 | MMACHC | c.563A>T (p.Asp188Val) c.392A>T (p.Asp131Val) c.368A>T (p.Asp123Val) | gnomAD v4 |
1 | g.45508929_45508930del | CA913075177 | MMACHC | c.563_564del (p.Asp188AlafsTer14) c.392_393del (p.Asp131AlafsTer14) c.368_369del (p.Asp123AlafsTer14) | |
1 | g.45508929_45508930delinsAC | CA2473783712 | MMACHC | c.563_564delinsAC (p.Asp188=) c.392_393delinsAC (p.Asp131=) c.368_369delinsAC (p.Asp123=) | |
1 | g.45508930C>A | CA340133469 | MMACHC | c.564C>A (p.Asp188Glu) c.393C>A (p.Asp131Glu) c.369C>A (p.Asp123Glu) | |
1 | g.45508930C= | CA2473783713 | MMACHC | c.564C= (p.Asp188=) c.393C= (p.Asp131=) c.369C= (p.Asp123=) | |
1 | g.45508930C>G | CA340133471 | MMACHC | c.564C>G (p.Asp188Glu) c.393C>G (p.Asp131Glu) c.369C>G (p.Asp123Glu) | |
1 | g.45508930C>T | CA417881448 | MMACHC | c.564C>T (p.Asp188=) c.393C>T (p.Asp131=) c.369C>T (p.Asp123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508931dup | CA2645391258 | MMACHC | c.565dup (p.Arg189ProfsTer14) c.394dup (p.Arg132ProfsTer14) c.370dup (p.Arg124ProfsTer14) | gnomAD v4 |
1 | g.45508931del | CA522810898 | MMACHC | c.565del (p.Arg189ValfsTer21) c.394del (p.Arg132ValfsTer21) c.370del (p.Arg124ValfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508932_45508940del | CA2586966643 | MMACHC | c.566_574del (p.Arg189_Ala191del) c.395_403del (p.Arg132_Ala134del) c.371_379del (p.Arg124_Ala126del) | |
1 | g.45508931C>A | CA827791 | MMACHC | c.565C>A (p.Arg189Ser) c.394C>A (p.Arg132Ser) c.370C>A (p.Arg124Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508931C= | CA1143447009 | MMACHC | c.565C= (p.Arg189=) c.394C= (p.Arg132=) c.370C= (p.Arg124=) | |
1 | g.45508931C>G | CA340133474 | MMACHC | c.565C>G (p.Arg189Gly) c.394C>G (p.Arg132Gly) c.370C>G (p.Arg124Gly) | |
1 | g.45508931C>T | CA827792 | MMACHC | c.565C>T (p.Arg189Cys) c.394C>T (p.Arg132Cys) c.370C>T (p.Arg124Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508932G>A | CA827793 | MMACHC | c.566G>A (p.Arg189His) c.395G>A (p.Arg132His) c.371G>A (p.Arg124His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508932G>C | CA340133478 | MMACHC | c.566G>C (p.Arg189Pro) c.395G>C (p.Arg132Pro) c.371G>C (p.Arg124Pro) | |
1 | g.45508932G= | CA2473783714 | MMACHC | c.566G= (p.Arg189=) c.395G= (p.Arg132=) c.371G= (p.Arg124=) | |
1 | g.45508932G>T | CA340133480 | MMACHC | c.566G>T (p.Arg189Leu) c.395G>T (p.Arg132Leu) c.371G>T (p.Arg124Leu) | ClinVar gnomAD v4 |
1 | g.45508932dup | CA913075178 | MMACHC | c.566dup (p.Ile190TyrfsTer13) c.395dup (p.Ile133TyrfsTer13) c.371dup (p.Ile125TyrfsTer13) | |
1 | g.45508933T>A | CA417881452 | MMACHC | c.567T>A (p.Arg189=) c.396T>A (p.Arg132=) c.372T>A (p.Arg124=) | |
1 | g.45508933T>C | CA417881450 | MMACHC | c.567T>C (p.Arg189=) c.396T>C (p.Arg132=) c.372T>C (p.Arg124=) | |
1 | g.45508933T>G | CA417881451 | MMACHC | c.567T>G (p.Arg189=) c.396T>G (p.Arg132=) c.372T>G (p.Arg124=) | |
1 | g.45508933_45508934insCCTT | CA2586966644 | MMACHC | c.567_568insCCTT (p.Ile190ProfsTer14) c.396_397insCCTT (p.Ile133ProfsTer14) c.372_373insCCTT (p.Ile125ProfsTer14) | |
1 | g.45508933dup | CA522810899 | MMACHC | c.567dup (p.Ile190TyrfsTer13) c.396dup (p.Ile133TyrfsTer13) c.372dup (p.Ile125TyrfsTer13) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508934A>C | CA340133482 | MMACHC | c.568A>C (p.Ile190Leu) c.397A>C (p.Ile133Leu) c.373A>C (p.Ile125Leu) | |
1 | g.45508934A>G | CA340133485 | MMACHC | c.568A>G (p.Ile190Val) c.397A>G (p.Ile133Val) c.373A>G (p.Ile125Val) | |
1 | g.45508934A>T | CA340133486 | MMACHC | c.568A>T (p.Ile190Phe) c.397A>T (p.Ile133Phe) c.373A>T (p.Ile125Phe) | |
1 | g.45508935T>A | CA340133489 | MMACHC | c.569T>A (p.Ile190Asn) c.398T>A (p.Ile133Asn) c.374T>A (p.Ile125Asn) | |
1 | g.45508935T>C | CA340133491 | MMACHC | c.569T>C (p.Ile190Thr) c.398T>C (p.Ile133Thr) c.374T>C (p.Ile125Thr) | |
1 | g.45508935T>G | CA340133493 | MMACHC | c.569T>G (p.Ile190Ser) c.398T>G (p.Ile133Ser) c.374T>G (p.Ile125Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508935T= | CA2473783715 | MMACHC | c.569T= (p.Ile190=) c.398T= (p.Ile133=) c.374T= (p.Ile125=) | |
1 | g.45508936C>A | CA417881453 | MMACHC | c.570C>A (p.Ile190=) c.399C>A (p.Ile133=) c.375C>A (p.Ile125=) | |
1 | g.45508936C= | CA2473783716 | MMACHC | c.570C= (p.Ile190=) c.399C= (p.Ile133=) c.375C= (p.Ile125=) | |
1 | g.45508936C>G | CA340133496 | MMACHC | c.570C>G (p.Ile190Met) c.399C>G (p.Ile133Met) c.375C>G (p.Ile125Met) | |
1 | g.45508936C>T | CA827794 | MMACHC | c.570C>T (p.Ile190=) c.399C>T (p.Ile133=) c.375C>T (p.Ile125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508937_45508938del | CA913075179 | MMACHC | c.571_572del (p.Ala191ProfsTer11) c.400_401del (p.Ala134ProfsTer11) c.376_377del (p.Ala126ProfsTer11) | |
1 | g.45508936_45508937insT | CA2586966645 | MMACHC | c.570_571insT (p.Ala191CysfsTer12) c.399_400insT (p.Ala134CysfsTer12) c.375_376insT (p.Ala126CysfsTer12) | |
1 | g.45508937G>A | CA827795 | MMACHC | c.571G>A (p.Ala191Thr) c.400G>A (p.Ala134Thr) c.376G>A (p.Ala126Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508937G>C | CA340133497 | MMACHC | c.571G>C (p.Ala191Pro) c.400G>C (p.Ala134Pro) c.376G>C (p.Ala126Pro) | |
1 | g.45508937G= | CA2473783718 | MMACHC | c.571G= (p.Ala191=) c.400G= (p.Ala134=) c.376G= (p.Ala126=) | |
1 | g.45508937G>T | CA21829760 | MMACHC | c.571G>T (p.Ala191Ser) c.400G>T (p.Ala134Ser) c.376G>T (p.Ala126Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508937_45508938delinsGC | CA2473783717 | MMACHC | c.571_572delinsGC (p.Ala191=) c.400_401delinsGC (p.Ala134=) c.376_377delinsGC (p.Ala126=) | |
1 | g.45508938C>A | CA340133500 | MMACHC | c.572C>A (p.Ala191Asp) c.401C>A (p.Ala134Asp) c.377C>A (p.Ala126Asp) | |
1 | g.45508938C= | CA1144060573 | MMACHC | c.572C= (p.Ala191=) c.401C= (p.Ala134=) c.377C= (p.Ala126=) | |
1 | g.45508938C>G | CA827796 | MMACHC | c.572C>G (p.Ala191Gly) c.401C>G (p.Ala134Gly) c.377C>G (p.Ala126Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508938C>T | CA827797 | MMACHC | c.572C>T (p.Ala191Val) c.401C>T (p.Ala134Val) c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508940del | CA658821032 | MMACHC | c.574del (p.Leu192TyrfsTer18) c.403del (p.Leu135TyrfsTer18) c.379del (p.Leu127TyrfsTer18) | ClinVar dbSNP |
1 | g.45508939C>A | CA417881458 | MMACHC | c.573C>A (p.Ala191=) c.402C>A (p.Ala134=) c.378C>A (p.Ala126=) | |
1 | g.45508939C= | CA2473783719 | MMACHC | c.573C= (p.Ala191=) c.402C= (p.Ala134=) c.378C= (p.Ala126=) | |
1 | g.45508939C>G | CA417881459 | MMACHC | c.573C>G (p.Ala191=) c.402C>G (p.Ala134=) c.378C>G (p.Ala126=) | |
1 | g.45508939C>T | CA827798 | MMACHC | c.573C>T (p.Ala191=) c.402C>T (p.Ala134=) c.378C>T (p.Ala126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508940C>A | CA340133504 | MMACHC | c.574C>A (p.Leu192Ile) c.403C>A (p.Leu135Ile) c.379C>A (p.Leu127Ile) | |
1 | g.45508940C= | CA2473783720 | MMACHC | c.574C= (p.Leu192=) c.403C= (p.Leu135=) c.379C= (p.Leu127=) | |
1 | g.45508940C>G | CA340133506 | MMACHC | c.574C>G (p.Leu192Val) c.403C>G (p.Leu135Val) c.379C>G (p.Leu127Val) | gnomAD v4 |
1 | g.45508940C>T | CA827799 | MMACHC | c.574C>T (p.Leu192=) c.403C>T (p.Leu135=) c.379C>T (p.Leu127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508940_45508941delinsCT | CA2473783721 | MMACHC | c.574_575delinsCT (p.Leu192=) c.403_404delinsCT (p.Leu135=) c.379_380delinsCT (p.Leu127=) | |
1 | g.45508941del | CA2473783722 | MMACHC | c.575del (p.Leu192HisfsTer18) c.404del (p.Leu135HisfsTer18) c.380del (p.Leu127HisfsTer18) | dbSNP |
1 | g.45508941T>A | CA340133509 | MMACHC | c.575T>A (p.Leu192Gln) c.404T>A (p.Leu135Gln) c.380T>A (p.Leu127Gln) | |
1 | g.45508941T>C | CA340133511 | MMACHC | c.575T>C (p.Leu192Pro) c.404T>C (p.Leu135Pro) c.380T>C (p.Leu127Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508941T>G | CA340133513 | MMACHC | c.575T>G (p.Leu192Arg) c.404T>G (p.Leu135Arg) c.380T>G (p.Leu127Arg) | |
1 | g.45508941T= | CA2473783723 | MMACHC | c.575T= (p.Leu192=) c.404T= (p.Leu135=) c.380T= (p.Leu127=) | |
1 | g.45508942A= | CA2473783724 | MMACHC | c.576A= (p.Leu192=) c.405A= (p.Leu135=) c.381A= (p.Leu127=) | |
1 | g.45508942A>C | CA417881461 | MMACHC | c.576A>C (p.Leu192=) c.405A>C (p.Leu135=) c.381A>C (p.Leu127=) | |
1 | g.45508942A>G | CA417881462 | MMACHC | c.576A>G (p.Leu192=) c.405A>G (p.Leu135=) c.381A>G (p.Leu127=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508942A>T | CA417881463 | MMACHC | c.576A>T (p.Leu192=) c.405A>T (p.Leu135=) c.381A>T (p.Leu127=) | |
1 | g.45508943C>A | CA340133514 | MMACHC | c.577C>A (p.Leu193Ile) c.406C>A (p.Leu136Ile) c.382C>A (p.Leu128Ile) | gnomAD v4 |
1 | g.45508943C= | CA2473783725 | MMACHC | c.577C= (p.Leu193=) c.406C= (p.Leu136=) c.382C= (p.Leu128=) | |
1 | g.45508943C>G | CA340133518 | MMACHC | c.577C>G (p.Leu193Val) c.406C>G (p.Leu136Val) c.382C>G (p.Leu128Val) | |
1 | g.45508943C>T | CA340133516 | MMACHC | c.577C>T (p.Leu193Phe) c.406C>T (p.Leu136Phe) c.382C>T (p.Leu128Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508944T>A | CA340133520 | MMACHC | c.578T>A (p.Leu193His) c.407T>A (p.Leu136His) c.383T>A (p.Leu128His) | |
1 | g.45508944T>C | CA340133521 | MMACHC | c.578T>C (p.Leu193Pro) c.407T>C (p.Leu136Pro) c.383T>C (p.Leu128Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508944T>G | CA340133523 | MMACHC | c.578T>G (p.Leu193Arg) c.407T>G (p.Leu136Arg) c.383T>G (p.Leu128Arg) | gnomAD v4 |
1 | g.45508944T= | CA2473783726 | MMACHC | c.578T= (p.Leu193=) c.407T= (p.Leu136=) c.383T= (p.Leu128=) | |
1 | g.45508945C>A | CA417881468 | MMACHC | c.579C>A (p.Leu193=) c.408C>A (p.Leu136=) c.384C>A (p.Leu128=) | |
1 | g.45508945C= | CA2473783727 | MMACHC | c.579C= (p.Leu193=) c.408C= (p.Leu136=) c.384C= (p.Leu128=) | |
1 | g.45508945C>G | CA417881469 | MMACHC | c.579C>G (p.Leu193=) c.408C>G (p.Leu136=) c.384C>G (p.Leu128=) | ClinVar dbSNP gnomAD v4 |
1 | g.45508945C>T | CA827800 | MMACHC | c.579C>T (p.Leu193=) c.408C>T (p.Leu136=) c.384C>T (p.Leu128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508946G>A | CA827801 | MMACHC | c.580G>A (p.Glu194Lys) c.409G>A (p.Glu137Lys) c.385G>A (p.Glu129Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508946G>C | CA340133528 | MMACHC | c.580G>C (p.Glu194Gln) c.409G>C (p.Glu137Gln) c.385G>C (p.Glu129Gln) | |
1 | g.45508946G= | CA2473783728 | MMACHC | c.580G= (p.Glu194=) c.409G= (p.Glu137=) c.385G= (p.Glu129=) | |
1 | g.45508946G>T | CA340133530 | MMACHC | c.580G>T (p.Glu194Ter) c.409G>T (p.Glu137Ter) c.385G>T (p.Glu129Ter) | dbSNP gnomAD v4 |
1 | g.45508947A>C | CA340133532 | MMACHC | c.581A>C (p.Glu194Ala) c.410A>C (p.Glu137Ala) c.386A>C (p.Glu129Ala) | |
1 | g.45508947A>G | CA340133534 | MMACHC | c.581A>G (p.Glu194Gly) c.410A>G (p.Glu137Gly) c.386A>G (p.Glu129Gly) | |
1 | g.45508947A>T | CA340133536 | MMACHC | c.581A>T (p.Glu194Val) c.410A>T (p.Glu137Val) c.386A>T (p.Glu129Val) | |
1 | g.45508948A>C | CA340133538 | MMACHC | c.582A>C (p.Glu194Asp) c.411A>C (p.Glu137Asp) c.387A>C (p.Glu129Asp) | |
1 | g.45508948A>G | CA417881474 | MMACHC | c.582A>G (p.Glu194=) c.411A>G (p.Glu137=) c.387A>G (p.Glu129=) | |
1 | g.45508948A>T | CA340133541 | MMACHC | c.582A>T (p.Glu194Asp) c.411A>T (p.Glu137Asp) c.387A>T (p.Glu129Asp) | |
1 | g.45508949G>A | CA340133548 | MMACHC | c.583G>A (p.Gly195Ser) c.412G>A (p.Gly138Ser) c.388G>A (p.Gly130Ser) | |
1 | g.45508949G>C | CA340133544 | MMACHC | c.583G>C (p.Gly195Arg) c.412G>C (p.Gly138Arg) c.388G>C (p.Gly130Arg) | |
1 | g.45508949G>T | CA340133546 | MMACHC | c.583G>T (p.Gly195Cys) c.412G>T (p.Gly138Cys) c.388G>T (p.Gly130Cys) | |
1 | g.45508950G>A | CA340133550 | MMACHC | c.584G>A (p.Gly195Asp) c.413G>A (p.Gly138Asp) c.389G>A (p.Gly130Asp) | |
1 | g.45508950G>C | CA827802 | MMACHC | c.584G>C (p.Gly195Ala) c.413G>C (p.Gly138Ala) c.389G>C (p.Gly130Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508950G= | CA2473783729 | MMACHC | c.584G= (p.Gly195=) c.413G= (p.Gly138=) c.389G= (p.Gly130=) | |
1 | g.45508950G>T | CA340133553 | MMACHC | c.584G>T (p.Gly195Val) c.413G>T (p.Gly138Val) c.389G>T (p.Gly130Val) | |
1 | g.45508951C>A | CA417881479 | MMACHC | c.585C>A (p.Gly195=) c.414C>A (p.Gly138=) c.390C>A (p.Gly130=) | |
1 | g.45508951C= | CA2473783730 | MMACHC | c.585C= (p.Gly195=) c.414C= (p.Gly138=) c.390C= (p.Gly130=) | |
1 | g.45508951C>G | CA417881481 | MMACHC | c.585C>G (p.Gly195=) c.414C>G (p.Gly138=) c.390C>G (p.Gly130=) | |
1 | g.45508951C>T | CA417881482 | MMACHC | c.585C>T (p.Gly195=) c.414C>T (p.Gly138=) c.390C>T (p.Gly130=) | dbSNP |
1 | g.45508952T>A | CA340133556 | MMACHC | c.586T>A (p.Phe196Ile) c.415T>A (p.Phe139Ile) c.391T>A (p.Phe131Ile) | |
1 | g.45508952T>C | CA340133557 | MMACHC | c.586T>C (p.Phe196Leu) c.415T>C (p.Phe139Leu) c.391T>C (p.Phe131Leu) | |
1 | g.45508952T>G | CA340133559 | MMACHC | c.586T>G (p.Phe196Val) c.415T>G (p.Phe139Val) c.391T>G (p.Phe131Val) | |
1 | g.45508952_45508953insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC | CA2645391259 | MMACHC | c.586_587insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe196Ter) c.415_416insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe139Ter) c.391_392insGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCC (p.Phe131Ter) | gnomAD v4 |
1 | g.45508953T>A | CA340133561 | MMACHC | c.587T>A (p.Phe196Tyr) c.416T>A (p.Phe139Tyr) c.392T>A (p.Phe131Tyr) | |
1 | g.45508953T>C | CA21829779 | MMACHC | c.587T>C (p.Phe196Ser) c.416T>C (p.Phe139Ser) c.392T>C (p.Phe131Ser) | dbSNP |
1 | g.45508953T>G | CA340133563 | MMACHC | c.587T>G (p.Phe196Cys) c.416T>G (p.Phe139Cys) c.392T>G (p.Phe131Cys) | |
1 | g.45508953T= | CA2473783731 | MMACHC | c.587T= (p.Phe196=) c.416T= (p.Phe139=) c.392T= (p.Phe131=) | |
1 | g.45508954C>A | CA340133564 | MMACHC | c.588C>A (p.Phe196Leu) c.417C>A (p.Phe139Leu) c.393C>A (p.Phe131Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508954C= | CA2473783732 | MMACHC | c.588C= (p.Phe196=) c.417C= (p.Phe139=) c.393C= (p.Phe131=) | |
1 | g.45508954C>G | CA340133565 | MMACHC | c.588C>G (p.Phe196Leu) c.417C>G (p.Phe139Leu) c.393C>G (p.Phe131Leu) | |
1 | g.45508954C>T | CA417881483 | MMACHC | c.588C>T (p.Phe196=) c.417C>T (p.Phe139=) c.393C>T (p.Phe131=) | ClinVar gnomAD v4 |
1 | g.45508955A= | CA2473783733 | MMACHC | c.589A= (p.Asn197=) c.418A= (p.Asn140=) c.394A= (p.Asn132=) | |
1 | g.45508955A>C | CA340133570 | MMACHC | c.589A>C (p.Asn197His) c.418A>C (p.Asn140His) c.394A>C (p.Asn132His) | |
1 | g.45508955A>G | CA340133568 | MMACHC | c.589A>G (p.Asn197Asp) c.418A>G (p.Asn140Asp) c.394A>G (p.Asn132Asp) | dbSNP gnomAD v4 |
1 | g.45508955A>T | CA340133566 | MMACHC | c.589A>T (p.Asn197Tyr) c.418A>T (p.Asn140Tyr) c.394A>T (p.Asn132Tyr) | gnomAD v4 |
1 | g.45508956A= | CA2473783734 | MMACHC | c.590A= (p.Asn197=) c.419A= (p.Asn140=) c.395A= (p.Asn132=) | |
1 | g.45508956A>C | CA340133572 | MMACHC | c.590A>C (p.Asn197Thr) c.419A>C (p.Asn140Thr) c.395A>C (p.Asn132Thr) | |
1 | g.45508956A>G | CA340133574 | MMACHC | c.590A>G (p.Asn197Ser) c.419A>G (p.Asn140Ser) c.395A>G (p.Asn132Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508956A>T | CA340133573 | MMACHC | c.590A>T (p.Asn197Ile) c.419A>T (p.Asn140Ile) c.395A>T (p.Asn132Ile) | COSMIC |
1 | g.45508957T>A | CA340133577 | MMACHC | c.591T>A (p.Asn197Lys) c.420T>A (p.Asn140Lys) c.396T>A (p.Asn132Lys) | |
1 | g.45508957T>C | CA417881490 | MMACHC | c.591T>C (p.Asn197=) c.420T>C (p.Asn140=) c.396T>C (p.Asn132=) | ClinVar dbSNP gnomAD v4 |
1 | g.45508957T>G | CA340133578 | MMACHC | c.591T>G (p.Asn197Lys) c.420T>G (p.Asn140Lys) c.396T>G (p.Asn132Lys) | |
1 | g.45508957T= | CA2473783735 | MMACHC | c.591T= (p.Asn197=) c.420T= (p.Asn140=) c.396T= (p.Asn132=) | |
1 | g.45508958T>A | CA340133580 | MMACHC | c.592T>A (p.Phe198Ile) c.421T>A (p.Phe141Ile) c.397T>A (p.Phe133Ile) | |
1 | g.45508958T>C | CA340133581 | MMACHC | c.592T>C (p.Phe198Leu) c.421T>C (p.Phe141Leu) c.397T>C (p.Phe133Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508958T>G | CA340133583 | MMACHC | c.592T>G (p.Phe198Val) c.421T>G (p.Phe141Val) c.397T>G (p.Phe133Val) | |
1 | g.45508958T= | CA2473783736 | MMACHC | c.592T= (p.Phe198=) c.421T= (p.Phe141=) c.397T= (p.Phe133=) | |
1 | g.45508959T>A | CA340133586 | MMACHC | c.593T>A (p.Phe198Tyr) c.422T>A (p.Phe141Tyr) c.398T>A (p.Phe133Tyr) | |
1 | g.45508959T>C | CA340133588 | MMACHC | c.593T>C (p.Phe198Ser) c.422T>C (p.Phe141Ser) c.398T>C (p.Phe133Ser) | dbSNP gnomAD v4 |
1 | g.45508959T>G | CA340133590 | MMACHC | c.593T>G (p.Phe198Cys) c.422T>G (p.Phe141Cys) c.398T>G (p.Phe133Cys) | |
1 | g.45508959T= | CA2473783737 | MMACHC | c.593T= (p.Phe198=) c.422T= (p.Phe141=) c.398T= (p.Phe133=) | |
1 | g.45508960C>A | CA340133592 | MMACHC | c.594C>A (p.Phe198Leu) c.423C>A (p.Phe141Leu) c.399C>A (p.Phe133Leu) | |
1 | g.45508960C>G | CA340133594 | MMACHC | c.594C>G (p.Phe198Leu) c.423C>G (p.Phe141Leu) c.399C>G (p.Phe133Leu) | |
1 | g.45508960C>T | CA417881492 | MMACHC | c.594C>T (p.Phe198=) c.423C>T (p.Phe141=) c.399C>T (p.Phe133=) | |
1 | g.45508961C>A | CA340133597 | MMACHC | c.595C>A (p.His199Asn) c.424C>A (p.His142Asn) c.400C>A (p.His134Asn) | |
1 | g.45508961C= | CA2473783738 | MMACHC | c.595C= (p.His199=) c.424C= (p.His142=) c.400C= (p.His134=) | |
1 | g.45508961C>G | CA340133599 | MMACHC | c.595C>G (p.His199Asp) c.424C>G (p.His142Asp) c.400C>G (p.His134Asp) | |
1 | g.45508961C>T | CA21829782 | MMACHC | c.595C>T (p.His199Tyr) c.424C>T (p.His142Tyr) c.400C>T (p.His134Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508962A>C | CA340133604 | MMACHC | c.596A>C (p.His199Pro) c.425A>C (p.His142Pro) c.401A>C (p.His134Pro) | |
1 | g.45508962A>G | CA340133601 | MMACHC | c.596A>G (p.His199Arg) c.425A>G (p.His142Arg) c.401A>G (p.His134Arg) | |
1 | g.45508962A>T | CA340133603 | MMACHC | c.596A>T (p.His199Leu) c.425A>T (p.His142Leu) c.401A>T (p.His134Leu) | |
1 | g.45508963C>A | CA340133606 | MMACHC | c.597C>A (p.His199Gln) c.426C>A (p.His142Gln) c.402C>A (p.His134Gln) | dbSNP |
1 | g.45508963C= | CA2473783739 | MMACHC | c.597C= (p.His199=) c.426C= (p.His142=) c.402C= (p.His134=) | |
1 | g.45508963C>G | CA340133608 | MMACHC | c.597C>G (p.His199Gln) c.426C>G (p.His142Gln) c.402C>G (p.His134Gln) | |
1 | g.45508963C>T | CA417881499 | MMACHC | c.597C>T (p.His199=) c.426C>T (p.His142=) c.402C>T (p.His134=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508964T>A | CA340133610 | MMACHC | c.598T>A (p.Trp200Arg) c.427T>A (p.Trp143Arg) c.403T>A (p.Trp135Arg) | |
1 | g.45508964T>C | CA827803 | MMACHC | c.598T>C (p.Trp200Arg) c.427T>C (p.Trp143Arg) c.403T>C (p.Trp135Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508964T>G | CA340133613 | MMACHC | c.598T>G (p.Trp200Gly) c.427T>G (p.Trp143Gly) c.403T>G (p.Trp135Gly) | |
1 | g.45508964T= | CA2473783740 | MMACHC | c.598T= (p.Trp200=) c.427T= (p.Trp143=) c.403T= (p.Trp135=) | |
1 | g.45508965G>A | CA340133616 | MMACHC | c.599G>A (p.Trp200Ter) c.428G>A (p.Trp143Ter) c.404G>A (p.Trp135Ter) | ClinVar dbSNP |
1 | g.45508965G>C | CA340133617 | MMACHC | c.599G>C (p.Trp200Ser) c.428G>C (p.Trp143Ser) c.404G>C (p.Trp135Ser) | |
1 | g.45508965G= | CA2473783741 | MMACHC | c.599G= (p.Trp200=) c.428G= (p.Trp143=) c.404G= (p.Trp135=) | |
1 | g.45508965G>T | CA340133619 | MMACHC | c.599G>T (p.Trp200Leu) c.428G>T (p.Trp143Leu) c.404G>T (p.Trp135Leu) | |
1 | g.45508966del | CA2695198019 | MMACHC | c.600del (p.Trp200CysfsTer10) c.429del (p.Trp143CysfsTer10) c.405del (p.Trp135CysfsTer10) | ClinVar |
1 | g.45508966G>A | CA312736 | MMACHC | c.600G>A (p.Trp200Ter) c.429G>A (p.Trp143Ter) c.405G>A (p.Trp135Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.45508966G>C | CA340133622 | MMACHC | c.600G>C (p.Trp200Cys) c.429G>C (p.Trp143Cys) c.405G>C (p.Trp135Cys) | |
1 | g.45508966G= | CA2473783742 | MMACHC | c.600G= (p.Trp200=) c.429G= (p.Trp143=) c.405G= (p.Trp135=) | |
1 | g.45508966G>T | CA340133623 | MMACHC | c.600G>T (p.Trp200Cys) c.429G>T (p.Trp143Cys) c.405G>T (p.Trp135Cys) | |
1 | g.45508967C>A | CA340133626 | MMACHC | c.601C>A (p.Arg201Ser) c.430C>A (p.Arg144Ser) c.406C>A (p.Arg136Ser) | gnomAD v4 |
1 | g.45508967C= | CA2473783743 | MMACHC | c.601C= (p.Arg201=) c.430C= (p.Arg144=) c.406C= (p.Arg136=) | |
1 | g.45508967C>G | CA340133628 | MMACHC | c.601C>G (p.Arg201Gly) c.430C>G (p.Arg144Gly) c.406C>G (p.Arg136Gly) | |
1 | g.45508967C>T | CA827804 | MMACHC | c.601C>T (p.Arg201Cys) c.430C>T (p.Arg144Cys) c.406C>T (p.Arg136Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508967_45508969delinsCGT | CA2473783744 | MMACHC | c.601_603delinsCGT (p.Arg201=) c.430_432delinsCGT (p.Arg144=) c.406_408delinsCGT (p.Arg136=) | |
1 | g.45508968G>A | CA827805 | MMACHC | c.602G>A (p.Arg201His) c.431G>A (p.Arg144His) c.407G>A (p.Arg136His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508968G>C | CA340133631 | MMACHC | c.602G>C (p.Arg201Pro) c.431G>C (p.Arg144Pro) c.407G>C (p.Arg136Pro) | |
1 | g.45508968G= | CA1143422434 | MMACHC | c.602G= (p.Arg201=) c.431G= (p.Arg144=) c.407G= (p.Arg136=) | |
1 | g.45508968G>T | CA340133634 | MMACHC | c.602G>T (p.Arg201Leu) c.431G>T (p.Arg144Leu) c.407G>T (p.Arg136Leu) | |
1 | g.45508969_45508970del | CA1139656103 | MMACHC | c.603_604del (p.Asp202LeufsTer?) c.432_433del (p.Asp145LeufsTer?) c.408_409del (p.Asp137LeufsTer?) | ClinVar dbSNP |
1 | g.45508969T>A | CA417881503 | MMACHC | c.603T>A (p.Arg201=) c.432T>A (p.Arg144=) c.408T>A (p.Arg136=) | gnomAD v4 |
1 | g.45508969T>C | CA223193 | MMACHC | c.603T>C (p.Arg201=) c.432T>C (p.Arg144=) c.408T>C (p.Arg136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508969T>G | CA417881505 | MMACHC | c.603T>G (p.Arg201=) c.432T>G (p.Arg144=) c.408T>G (p.Arg136=) | |
1 | g.45508969T= | CA1144232804 | MMACHC | c.603T= (p.Arg201=) c.432T= (p.Arg144=) c.408T= (p.Arg136=) | |
1 | g.45508969dup | CA2473783745 | MMACHC | c.603dup (p.Asp202Ter) c.432dup (p.Asp145Ter) c.408dup (p.Asp137Ter) | dbSNP |
1 | g.45508970G>A | CA340133636 | MMACHC | c.604G>A (p.Asp202Asn) c.433G>A (p.Asp145Asn) c.409G>A (p.Asp137Asn) | |
1 | g.45508970G>C | CA340133638 | MMACHC | c.604G>C (p.Asp202His) c.433G>C (p.Asp145His) c.409G>C (p.Asp137His) | dbSNP |
1 | g.45508970G>T | CA340133640 | MMACHC | c.604G>T (p.Asp202Tyr) c.433G>T (p.Asp145Tyr) c.409G>T (p.Asp137Tyr) | gnomAD v4 |
1 | g.45508971A= | CA2473783746 | MMACHC | c.605A= (p.Asp202=) c.434A= (p.Asp145=) c.410A= (p.Asp137=) | |
1 | g.45508971A>C | CA340133643 | MMACHC | c.605A>C (p.Asp202Ala) c.434A>C (p.Asp145Ala) c.410A>C (p.Asp137Ala) | |
1 | g.45508971A>G | CA340133645 | MMACHC | c.605A>G (p.Asp202Gly) c.434A>G (p.Asp145Gly) c.410A>G (p.Asp137Gly) | |
1 | g.45508971A>T | CA340133647 | MMACHC | c.605A>T (p.Asp202Val) c.434A>T (p.Asp145Val) c.410A>T (p.Asp137Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508972_45508980del | CA2586966646 | MMACHC | c.606_614del (p.Trp203_Tyr205del) c.435_443del (p.Trp146_Tyr148del) c.411_419del (p.Trp138_Tyr140del) | |
1 | g.45508972T>A | CA340133649 | MMACHC | c.606T>A (p.Asp202Glu) c.435T>A (p.Asp145Glu) c.411T>A (p.Asp137Glu) | |
1 | g.45508972T>C | CA827806 | MMACHC | c.606T>C (p.Asp202=) c.435T>C (p.Asp145=) c.411T>C (p.Asp137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508972T>G | CA340133652 | MMACHC | c.606T>G (p.Asp202Glu) c.435T>G (p.Asp145Glu) c.411T>G (p.Asp137Glu) | |
1 | g.45508972T= | CA1149048708 | MMACHC | c.606T= (p.Asp202=) c.435T= (p.Asp145=) c.411T= (p.Asp137=) |