Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149569928_149569941delinsCCAAATATTACATA | CA1297264236 | MMADHC | c.*33_*46delinsTATGTAATATTTGG (n.*33_*46delinsTATGTAATATTTGG) | |
2 | g.149569935_149569947del | CA1902233 | MMADHC | c.*33_*45del (n.*33_*45del) | dbSNP ExAC gnomAD v2 |
2 | g.149569938C= | CA1297264241 | MMADHC | c.*36G= (n.*36G=) | |
2 | g.149569938C>G | CA2577116923 | MMADHC | c.*36G>C (n.*36G>C) | |
2 | g.149569938C>T | CA1037732303 | MMADHC | c.*36G>A (n.*36G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569939A= | CA1297264242 | MMADHC | c.*35T= (n.*35T=) | |
2 | g.149569939A>G | CA537032329 | MMADHC | c.*35T>C (n.*35T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569941A>C | CA2661422171 | MMADHC | c.*33T>G (n.*33T>G) | gnomAD v4 |
2 | g.149569944A= | CA1297264243 | MMADHC | c.*30T= (n.*30T=) | |
2 | g.149569944A>G | CA58332355 | MMADHC | c.*30T>C (n.*30T>C) | dbSNP |
2 | g.149569945A= | CA1297264244 | MMADHC | c.*29T= (n.*29T=) | |
2 | g.149569945A>C | CA1902235 | MMADHC | c.*29T>G (n.*29T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569945A>G | CA2661422172 | MMADHC | c.*29T>C (n.*29T>C) | gnomAD v4 |
2 | g.149569946T>C | CA1297264246 | MMADHC | c.*28A>G (n.*28A>G) | dbSNP gnomAD v4 |
2 | g.149569946T>G | CA2661422173 | MMADHC | c.*28A>C (n.*28A>C) | gnomAD v4 |
2 | g.149569946T= | CA1297264245 | MMADHC | c.*28A= (n.*28A=) | |
2 | g.149569948G>A | CA1902236 | MMADHC | c.*26C>T (n.*26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569948G>C | CA2577116924 | MMADHC | c.*26C>G (n.*26C>G) | |
2 | g.149569948G= | CA1297264247 | MMADHC | c.*26C= (n.*26C=) | |
2 | g.149569951C= | CA1297264248 | MMADHC | c.*23G= (n.*23G=) | |
2 | g.149569951C>T | CA1297264249 | MMADHC | c.*23G>A (n.*23G>A) | dbSNP |
2 | g.149569952A= | CA1297264250 | MMADHC | c.*22T= (n.*22T=) | |
2 | g.149569952A>C | CA2700749475 | MMADHC | c.*22T>G (n.*22T>G) | dbSNP |
2 | g.149569952A>G | CA537032330 | MMADHC | c.*22T>C (n.*22T>C) | dbSNP gnomAD v2 |
2 | g.149569952A>T | CA2661422174 | MMADHC | c.*22T>A (n.*22T>A) | gnomAD v4 |
2 | g.149569953G>A | CA2661422175 | MMADHC | c.*21C>T (n.*21C>T) | gnomAD v4 |
2 | g.149569959G>A | CA1902237 | MMADHC | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569959G= | CA1297264251 | MMADHC | c.*15C= (n.*15C=) | |
2 | g.149569960A>G | CA2661422176 | MMADHC | c.*14T>C (n.*14T>C) | gnomAD v4 |
2 | g.149569962T>A | CA2700754987 | MMADHC | c.*12A>T (n.*12A>T) | dbSNP |
2 | g.149569962T>C | CA1297264253 | MMADHC | c.*12A>G (n.*12A>G) | dbSNP |
2 | g.149569962T= | CA1297264252 | MMADHC | c.*12A= (n.*12A=) | |
2 | g.149569963G>A | CA1297264255 | MMADHC | c.*11C>T (n.*11C>T) | dbSNP gnomAD v4 |
2 | g.149569963G= | CA1297264254 | MMADHC | c.*11C= (n.*11C=) | |
2 | g.149569965A= | CA1297264256 | MMADHC | c.*9T= (n.*9T=) | |
2 | g.149569965A>C | CA758703119 | MMADHC | c.*9T>G (n.*9T>G) | dbSNP gnomAD v4 |
2 | g.149569965A>G | CA1902238 | MMADHC | c.*9T>C (n.*9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569967A= | CA1297264257 | MMADHC | c.*7T= (n.*7T=) | |
2 | g.149569967A>G | CA1902239 | MMADHC | c.*7T>C (n.*7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569967_149569968delinsAT | CA1297264258 | MMADHC | c.*6_*7delinsAT (n.*6_*7delinsAT) | |
2 | g.149569968T>C | CA758703129 | MMADHC | c.*6A>G (n.*6A>G) | dbSNP gnomAD v4 |
2 | g.149569968T>G | CA537032332 | MMADHC | c.*6A>C (n.*6A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569968T= | CA1297264259 | MMADHC | c.*6A= (n.*6A=) | |
2 | g.149569970del | CA537032331 | MMADHC | c.*6del (n.*6del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569969T>G | CA2577116925 | MMADHC | c.*5A>C (n.*5A>C) | |
2 | g.149569970_149569973delinsTCTG | CA1297264260 | MMADHC | c.*1_*4delinsCAGA (n.*1_*4delinsCAGA) | |
2 | g.149569971C= | CA1297264262 | MMADHC | c.*3G= (n.*3G=) | |
2 | g.149569971C>G | CA2661422177 | MMADHC | c.*3G>C (n.*3G>C) | gnomAD v4 |
2 | g.149569971C>T | CA1902240 | MMADHC | c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569973_149569975del | CA1297264261 | MMADHC | c.*1_*3del (n.*1_*3del) | dbSNP |
2 | g.149569973G>A | CA1902241 | MMADHC | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569973G= | CA1297264263 | MMADHC | c.*1C= (n.*1C=) | |
2 | g.149569974C>A | CA348868675 | MMADHC | c.891G>T (p.Ter297Tyr) c.993G>T (p.Ter331Tyr) | |
2 | g.149569974C>G | CA348868676 | MMADHC | c.891G>C (p.Ter297Tyr) c.993G>C (p.Ter331Tyr) | |
2 | g.149569974C>T | CA429405848 | MMADHC | c.891G>A (p.Ter297=) c.993G>A (p.Ter331=) | ClinVar gnomAD v4 |
2 | g.149569975T>A | CA348868678 | MMADHC | c.890A>T (p.Ter297Leu) c.992A>T (p.Ter331Leu) | |
2 | g.149569975T>C | CA348868679 | MMADHC | c.890A>G (p.Ter297Trp) c.992A>G (p.Ter331Trp) | |
2 | g.149569975T>G | CA348868677 | MMADHC | c.890A>C (p.Ter297Ser) c.992A>C (p.Ter331Ser) | |
2 | g.149569976A= | CA1297264264 | MMADHC | c.889T= (p.Ter297=) c.991T= (p.Ter331=) | |
2 | g.149569976A>C | CA348868680 | MMADHC | c.889T>G (p.Ter297Glu) c.991T>G (p.Ter331Glu) | |
2 | g.149569976A>G | CA1902242 | MMADHC | c.889T>C (p.Ter297Gln) c.991T>C (p.Ter331Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569976A>T | CA348868681 | MMADHC | c.889T>A (p.Ter297Lys) c.991T>A (p.Ter331Lys) | |
2 | g.149569977A>C | CA348868682 | MMADHC | c.888T>G (p.Asn296Lys) c.990T>G (p.Asn330Lys) | |
2 | g.149569977A>G | CA429405849 | MMADHC | c.888T>C (p.Asn296=) c.990T>C (p.Asn330=) | |
2 | g.149569977A>T | CA348868683 | MMADHC | c.888T>A (p.Asn296Lys) c.990T>A (p.Asn330Lys) | |
2 | g.149569978T>A | CA348868684 | MMADHC | c.887A>T (p.Asn296Ile) c.989A>T (p.Asn330Ile) | |
2 | g.149569978T>C | CA348868685 | MMADHC | c.887A>G (p.Asn296Ser) c.989A>G (p.Asn330Ser) | |
2 | g.149569978T>G | CA348868686 | MMADHC | c.887A>C (p.Asn296Thr) c.989A>C (p.Asn330Thr) | |
2 | g.149569979T>A | CA348868687 | MMADHC | c.886A>T (p.Asn296Tyr) c.988A>T (p.Asn330Tyr) | |
2 | g.149569979T>C | CA348868688 | MMADHC | c.886A>G (p.Asn296Asp) c.988A>G (p.Asn330Asp) | |
2 | g.149569979T>G | CA348868689 | MMADHC | c.886A>C (p.Asn296His) c.988A>C (p.Asn330His) | |
2 | g.149569980T>A | CA429405850 | MMADHC | c.885A>T (p.Gly295=) c.987A>T (p.Gly329=) | |
2 | g.149569980T>C | CA1902243 | MMADHC | c.885A>G (p.Gly295=) c.987A>G (p.Gly329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569980T>G | CA429405851 | MMADHC | c.885A>C (p.Gly295=) c.987A>C (p.Gly329=) | ClinVar dbSNP |
2 | g.149569980T= | CA1297264265 | MMADHC | c.885A= (p.Gly295=) c.987A= (p.Gly329=) | |
2 | g.149569981C>A | CA348868692 | MMADHC | c.884G>T (p.Gly295Val) c.986G>T (p.Gly329Val) | |
2 | g.149569981C>G | CA348868690 | MMADHC | c.884G>C (p.Gly295Ala) c.986G>C (p.Gly329Ala) | |
2 | g.149569981C>T | CA348868691 | MMADHC | c.884G>A (p.Gly295Glu) c.986G>A (p.Gly329Glu) | |
2 | g.149569982C>A | CA348868693 | MMADHC | c.883G>T (p.Gly295Ter) c.985G>T (p.Gly329Ter) | |
2 | g.149569982C>G | CA348868694 | MMADHC | c.883G>C (p.Gly295Arg) c.985G>C (p.Gly329Arg) | |
2 | g.149569982C>T | CA348868695 | MMADHC | c.883G>A (p.Gly295Arg) c.985G>A (p.Gly329Arg) | |
2 | g.149569983A= | CA1297264266 | MMADHC | c.882T= (p.Ser294=) c.984T= (p.Ser328=) | |
2 | g.149569983A>C | CA348868696 | MMADHC | c.882T>G (p.Ser294Arg) c.984T>G (p.Ser328Arg) | |
2 | g.149569983A>G | CA429405852 | MMADHC | c.882T>C (p.Ser294=) c.984T>C (p.Ser328=) | |
2 | g.149569983A>T | CA1902244 | MMADHC | c.882T>A (p.Ser294Arg) c.984T>A (p.Ser328Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149569984C>A | CA348868697 | MMADHC | c.881G>T (p.Ser294Ile) c.983G>T (p.Ser328Ile) | |
2 | g.149569984C>G | CA348868698 | MMADHC | c.881G>C (p.Ser294Thr) c.983G>C (p.Ser328Thr) | |
2 | g.149569984C>T | CA348868699 | MMADHC | c.881G>A (p.Ser294Asn) c.983G>A (p.Ser328Asn) | |
2 | g.149569985T>A | CA348868700 | MMADHC | c.880A>T (p.Ser294Cys) c.982A>T (p.Ser328Cys) | |
2 | g.149569985T>C | CA348868701 | MMADHC | c.880A>G (p.Ser294Gly) c.982A>G (p.Ser328Gly) | |
2 | g.149569985T>G | CA348868702 | MMADHC | c.880A>C (p.Ser294Arg) c.982A>C (p.Ser328Arg) | |
2 | g.149569986T>A | CA348868703 | MMADHC | c.879A>T (p.Leu293Phe) c.981A>T (p.Leu327Phe) | |
2 | g.149569986T>C | CA429405853 | MMADHC | c.879A>G (p.Leu293=) c.981A>G (p.Leu327=) | |
2 | g.149569986T>G | CA348868704 | MMADHC | c.879A>C (p.Leu293Phe) c.981A>C (p.Leu327Phe) | |
2 | g.149569987A>C | CA348868706 | MMADHC | c.878T>G (p.Leu293Ter) c.980T>G (p.Leu327Ter) | |
2 | g.149569987A>G | CA348868707 | MMADHC | c.878T>C (p.Leu293Ser) c.980T>C (p.Leu327Ser) | |
2 | g.149569987A>T | CA348868705 | MMADHC | c.878T>A (p.Leu293Ter) c.980T>A (p.Leu327Ter) | |
2 | g.149569988A= | CA1297264267 | MMADHC | c.877T= (p.Leu293=) c.979T= (p.Leu327=) | |
2 | g.149569988A>C | CA348868709 | MMADHC | c.877T>G (p.Leu293Val) c.979T>G (p.Leu327Val) | |
2 | g.149569988A>G | CA429405854 | MMADHC | c.877T>C (p.Leu293=) c.979T>C (p.Leu327=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569988A>T | CA348868708 | MMADHC | c.877T>A (p.Leu293Ile) c.979T>A (p.Leu327Ile) | |
2 | g.149569988_149569989delinsAT | CA1297264268 | MMADHC | c.876_877delinsAT (p.Lys292=) c.978_979delinsAT (p.Lys326=) | |
2 | g.149569989T>A | CA348868710 | MMADHC | c.876A>T (p.Lys292Asn) c.978A>T (p.Lys326Asn) | |
2 | g.149569989T>C | CA429405855 | MMADHC | c.876A>G (p.Lys292=) c.978A>G (p.Lys326=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569989T>G | CA348868711 | MMADHC | c.876A>C (p.Lys292Asn) c.978A>C (p.Lys326Asn) | |
2 | g.149569989T= | CA1297264269 | MMADHC | c.876A= (p.Lys292=) c.978A= (p.Lys326=) | |
2 | g.149569991del | CA1037732312 | MMADHC | c.876del (p.Lys292AsnfsTer2) c.978del (p.Lys326AsnfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569990T>A | CA348868712 | MMADHC | c.875A>T (p.Lys292Ile) c.977A>T (p.Lys326Ile) | |
2 | g.149569990T>C | CA348868713 | MMADHC | c.875A>G (p.Lys292Arg) c.977A>G (p.Lys326Arg) | |
2 | g.149569990T>G | CA348868714 | MMADHC | c.875A>C (p.Lys292Thr) c.977A>C (p.Lys326Thr) | |
2 | g.149569993_149569995dup | CA1902245 | MMADHC | c.873_875dup (p.Lys292_Leu293insLys) c.975_977dup (p.Lys326_Leu327insLys) | dbSNP ExAC gnomAD v2 |
2 | g.149569991T>A | CA348868715 | MMADHC | c.874A>T (p.Lys292Ter) c.976A>T (p.Lys326Ter) | |
2 | g.149569991T>C | CA348868716 | MMADHC | c.874A>G (p.Lys292Glu) c.976A>G (p.Lys326Glu) | |
2 | g.149569991T>G | CA348868717 | MMADHC | c.874A>C (p.Lys292Gln) c.976A>C (p.Lys326Gln) | |
2 | g.149569992C>A | CA348868718 | MMADHC | c.873G>T (p.Lys291Asn) c.975G>T (p.Lys325Asn) | |
2 | g.149569992C>G | CA348868719 | MMADHC | c.873G>C (p.Lys291Asn) c.975G>C (p.Lys325Asn) | |
2 | g.149569992C>T | CA429405857 | MMADHC | c.873G>A (p.Lys291=) c.975G>A (p.Lys325=) | |
2 | g.149569993T>A | CA348868721 | MMADHC | c.872A>T (p.Lys291Met) c.974A>T (p.Lys325Met) | |
2 | g.149569993T>C | CA348868722 | MMADHC | c.872A>G (p.Lys291Arg) c.974A>G (p.Lys325Arg) | |
2 | g.149569993T>G | CA348868720 | MMADHC | c.872A>C (p.Lys291Thr) c.974A>C (p.Lys325Thr) | |
2 | g.149569994T>A | CA348868723 | MMADHC | c.871A>T (p.Lys291Ter) c.973A>T (p.Lys325Ter) | |
2 | g.149569994T>C | CA348868724 | MMADHC | c.871A>G (p.Lys291Glu) c.973A>G (p.Lys325Glu) | |
2 | g.149569994T>G | CA348868725 | MMADHC | c.871A>C (p.Lys291Gln) c.973A>C (p.Lys325Gln) | |
2 | g.149569995C>A | CA348868726 | MMADHC | c.870G>T (p.Met290Ile) c.972G>T (p.Met324Ile) | |
2 | g.149569995C>G | CA348868727 | MMADHC | c.870G>C (p.Met290Ile) c.972G>C (p.Met324Ile) | |
2 | g.149569995C>T | CA348868728 | MMADHC | c.870G>A (p.Met290Ile) c.972G>A (p.Met324Ile) | COSMIC |
2 | g.149569996A= | CA1297264270 | MMADHC | c.869T= (p.Met290=) c.971T= (p.Met324=) | |
2 | g.149569996A>C | CA348868729 | MMADHC | c.869T>G (p.Met290Arg) c.971T>G (p.Met324Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569996A>G | CA348868731 | MMADHC | c.869T>C (p.Met290Thr) c.971T>C (p.Met324Thr) | |
2 | g.149569996A>T | CA348868730 | MMADHC | c.869T>A (p.Met290Lys) c.971T>A (p.Met324Lys) | dbSNP |
2 | g.149569997T>A | CA348868732 | MMADHC | c.868A>T (p.Met290Leu) c.970A>T (p.Met324Leu) | gnomAD v4 |
2 | g.149569997T>C | CA348868733 | MMADHC | c.868A>G (p.Met290Val) c.970A>G (p.Met324Val) | |
2 | g.149569997T>G | CA348868734 | MMADHC | c.868A>C (p.Met290Leu) c.970A>C (p.Met324Leu) | |
2 | g.149569998A>C | CA348868735 | MMADHC | c.867T>G (p.Ile289Met) c.969T>G (p.Ile323Met) | |
2 | g.149569998A>G | CA429405859 | MMADHC | c.867T>C (p.Ile289=) c.969T>C (p.Ile323=) | gnomAD v4 |
2 | g.149569998A>T | CA429405858 | MMADHC | c.867T>A (p.Ile289=) c.969T>A (p.Ile323=) | |
2 | g.149569999A>C | CA348868741 | MMADHC | c.866T>G (p.Ile289Ser) c.968T>G (p.Ile323Ser) | |
2 | g.149569999A>G | CA348868739 | MMADHC | c.866T>C (p.Ile289Thr) c.968T>C (p.Ile323Thr) | |
2 | g.149569999A>T | CA348868737 | MMADHC | c.866T>A (p.Ile289Asn) c.968T>A (p.Ile323Asn) | |
2 | g.149570000T>A | CA348868744 | MMADHC | c.865A>T (p.Ile289Phe) c.967A>T (p.Ile323Phe) | |
2 | g.149570000T>C | CA348868746 | MMADHC | c.865A>G (p.Ile289Val) c.967A>G (p.Ile323Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570000T>G | CA348868748 | MMADHC | c.865A>C (p.Ile289Leu) c.967A>C (p.Ile323Leu) | |
2 | g.149570000T= | CA1297264271 | MMADHC | c.865A= (p.Ile289=) c.967A= (p.Ile323=) | |
2 | g.149570001A>C | CA348868750 | MMADHC | c.864T>G (p.His288Gln) c.966T>G (p.His322Gln) | |
2 | g.149570001A>G | CA429405860 | MMADHC | c.864T>C (p.His288=) c.966T>C (p.His322=) | ClinVar |
2 | g.149570001A>T | CA348868751 | MMADHC | c.864T>A (p.His288Gln) c.966T>A (p.His322Gln) | |
2 | g.149570002del | CA2661422178 | MMADHC | c.863del (p.His288LeufsTer3) c.965del (p.His322LeufsTer3) | gnomAD v4 |
2 | g.149570002T>A | CA348868753 | MMADHC | c.863A>T (p.His288Leu) c.965A>T (p.His322Leu) | |
2 | g.149570002T>C | CA348868754 | MMADHC | c.863A>G (p.His288Arg) c.965A>G (p.His322Arg) | |
2 | g.149570002T>G | CA348868757 | MMADHC | c.863A>C (p.His288Pro) c.965A>C (p.His322Pro) | |
2 | g.149570003G>A | CA348868758 | MMADHC | c.862C>T (p.His288Tyr) c.964C>T (p.His322Tyr) | |
2 | g.149570003G>C | CA1902246 | MMADHC | c.862C>G (p.His288Asp) c.964C>G (p.His322Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570003G= | CA1297264272 | MMADHC | c.862C= (p.His288=) c.964C= (p.His322=) | |
2 | g.149570003G>T | CA348868761 | MMADHC | c.862C>A (p.His288Asn) c.964C>A (p.His322Asn) | |
2 | g.149570004G>A | CA429405861 | MMADHC | c.861C>T (p.Ser287=) c.963C>T (p.Ser321=) | gnomAD v4 |
2 | g.149570004G>C | CA348868765 | MMADHC | c.861C>G (p.Ser287Arg) c.963C>G (p.Ser321Arg) | |
2 | g.149570004G>T | CA348868768 | MMADHC | c.861C>A (p.Ser287Arg) c.963C>A (p.Ser321Arg) | |
2 | g.149570005C>A | CA1902247 | MMADHC | c.860G>T (p.Ser287Ile) c.962G>T (p.Ser321Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570005C= | CA1297264273 | MMADHC | c.860G= (p.Ser287=) c.962G= (p.Ser321=) | |
2 | g.149570005C>G | CA348868770 | MMADHC | c.860G>C (p.Ser287Thr) c.962G>C (p.Ser321Thr) | |
2 | g.149570005C>T | CA348868773 | MMADHC | c.860G>A (p.Ser287Asn) c.962G>A (p.Ser321Asn) | dbSNP |
2 | g.149570006T>A | CA348868775 | MMADHC | c.859A>T (p.Ser287Cys) c.961A>T (p.Ser321Cys) | |
2 | g.149570006T>C | CA348868776 | MMADHC | c.859A>G (p.Ser287Gly) c.961A>G (p.Ser321Gly) | |
2 | g.149570006T>G | CA348868777 | MMADHC | c.859A>C (p.Ser287Arg) c.961A>C (p.Ser321Arg) | |
2 | g.149570007G>A | CA429405862 | MMADHC | c.858C>T (p.Asp286=) c.960C>T (p.Asp320=) | |
2 | g.149570007G>C | CA348868778 | MMADHC | c.858C>G (p.Asp286Glu) c.960C>G (p.Asp320Glu) | |
2 | g.149570007G>T | CA348868779 | MMADHC | c.858C>A (p.Asp286Glu) c.960C>A (p.Asp320Glu) | |
2 | g.149570008T>A | CA348868782 | MMADHC | c.857A>T (p.Asp286Val) c.959A>T (p.Asp320Val) | |
2 | g.149570008T>C | CA348868783 | MMADHC | c.857A>G (p.Asp286Gly) c.959A>G (p.Asp320Gly) | gnomAD v4 |
2 | g.149570008T>G | CA348868785 | MMADHC | c.857A>C (p.Asp286Ala) c.959A>C (p.Asp320Ala) | ClinVar dbSNP |
2 | g.149570008T= | CA1297264274 | MMADHC | c.857A= (p.Asp286=) c.959A= (p.Asp320=) | |
2 | g.149570009C>A | CA348868788 | MMADHC | c.856G>T (p.Asp286Tyr) c.958G>T (p.Asp320Tyr) | |
2 | g.149570009C= | CA1297264275 | MMADHC | c.856G= (p.Asp286=) c.958G= (p.Asp320=) | |
2 | g.149570009C>G | CA348868790 | MMADHC | c.856G>C (p.Asp286His) c.958G>C (p.Asp320His) | |
2 | g.149570009C>T | CA348868792 | MMADHC | c.856G>A (p.Asp286Asn) c.958G>A (p.Asp320Asn) | gnomAD v4 |
2 | g.149570010T>A | CA1902248 | MMADHC | c.855A>T (p.Pro285=) c.957A>T (p.Pro319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570010T>C | CA429405863 | MMADHC | c.855A>G (p.Pro285=) c.957A>G (p.Pro319=) | |
2 | g.149570010T>G | CA429405864 | MMADHC | c.855A>C (p.Pro285=) c.957A>C (p.Pro319=) | |
2 | g.149570010T= | CA1297264276 | MMADHC | c.855A= (p.Pro285=) c.957A= (p.Pro319=) | |
2 | g.149570012_149570014dup | CA348868794 | MMADHC | c.853_855dup (p.Pro285_Asp286insPro) c.955_957dup (p.Pro319_Asp320insPro) | dbSNP gnomAD v4 |
2 | g.149570011G>A | CA348868800 | MMADHC | c.854C>T (p.Pro285Leu) c.956C>T (p.Pro319Leu) | gnomAD v4 |
2 | g.149570011G>C | CA348868807 | MMADHC | c.854C>G (p.Pro285Arg) c.956C>G (p.Pro319Arg) | |
2 | g.149570011G>T | CA348868798 | MMADHC | c.854C>A (p.Pro285Gln) c.956C>A (p.Pro319Gln) | |
2 | g.149570012G>A | CA348868814 | MMADHC | c.853C>T (p.Pro285Ser) c.955C>T (p.Pro319Ser) | gnomAD v4 |
2 | g.149570012G>C | CA348868809 | MMADHC | c.853C>G (p.Pro285Ala) c.955C>G (p.Pro319Ala) | |
2 | g.149570012G= | CA1297264277 | MMADHC | c.853C= (p.Pro285=) c.955C= (p.Pro319=) | |
2 | g.149570012G>T | CA348868812 | MMADHC | c.853C>A (p.Pro285Thr) c.955C>A (p.Pro319Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570013T>A | CA429405867 | MMADHC | c.852A>T (p.Thr284=) c.954A>T (p.Thr318=) | |
2 | g.149570013T>C | CA429405866 | MMADHC | c.852A>G (p.Thr284=) c.954A>G (p.Thr318=) | |
2 | g.149570013T>G | CA429405865 | MMADHC | c.852A>C (p.Thr284=) c.954A>C (p.Thr318=) | |
2 | g.149570014G>A | CA348868817 | MMADHC | c.851C>T (p.Thr284Ile) c.953C>T (p.Thr318Ile) | |
2 | g.149570014G>C | CA348868818 | MMADHC | c.851C>G (p.Thr284Arg) c.953C>G (p.Thr318Arg) | |
2 | g.149570014G>T | CA348868820 | MMADHC | c.851C>A (p.Thr284Lys) c.953C>A (p.Thr318Lys) | COSMIC |
2 | g.149570015T>A | CA348868826 | MMADHC | c.850A>T (p.Thr284Ser) c.952A>T (p.Thr318Ser) | gnomAD v4 |
2 | g.149570015T>C | CA348868825 | MMADHC | c.850A>G (p.Thr284Ala) c.952A>G (p.Thr318Ala) | |
2 | g.149570015T>G | CA348868822 | MMADHC | c.850A>C (p.Thr284Pro) c.952A>C (p.Thr318Pro) | |
2 | g.149570016del | CA2577116926 | MMADHC | c.850del (p.Thr284HisfsTer7) c.952del (p.Thr318HisfsTer7) | |
2 | g.149570016T>A | CA429405868 | MMADHC | c.849A>T (p.Ala283=) c.951A>T (p.Ala317=) | |
2 | g.149570016T>C | CA429405869 | MMADHC | c.849A>G (p.Ala283=) c.951A>G (p.Ala317=) | gnomAD v4 |
2 | g.149570016T>G | CA429405870 | MMADHC | c.849A>C (p.Ala283=) c.951A>C (p.Ala317=) | gnomAD v4 |
2 | g.149570017G>A | CA348868830 | MMADHC | c.848C>T (p.Ala283Val) c.950C>T (p.Ala317Val) | |
2 | g.149570017G>C | CA348868831 | MMADHC | c.848C>G (p.Ala283Gly) c.950C>G (p.Ala317Gly) | |
2 | g.149570017G>T | CA348868834 | MMADHC | c.848C>A (p.Ala283Glu) c.950C>A (p.Ala317Glu) | |
2 | g.149570018C>A | CA348868836 | MMADHC | c.847G>T (p.Ala283Ser) c.949G>T (p.Ala317Ser) | |
2 | g.149570018C>G | CA348868839 | MMADHC | c.847G>C (p.Ala283Pro) c.949G>C (p.Ala317Pro) | |
2 | g.149570018C>T | CA348868841 | MMADHC | c.847G>A (p.Ala283Thr) c.949G>A (p.Ala317Thr) | |
2 | g.149570019A= | CA1297264278 | MMADHC | c.846T= (p.Asn282=) c.948T= (p.Asn316=) | |
2 | g.149570019A>C | CA348868844 | MMADHC | c.846T>G (p.Asn282Lys) c.948T>G (p.Asn316Lys) | |
2 | g.149570019A>G | CA1902249 | MMADHC | c.846T>C (p.Asn282=) c.948T>C (p.Asn316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570019A>T | CA348868845 | MMADHC | c.846T>A (p.Asn282Lys) c.948T>A (p.Asn316Lys) | |
2 | g.149570020T>A | CA348868850 | MMADHC | c.845A>T (p.Asn282Ile) c.947A>T (p.Asn316Ile) | COSMIC |
2 | g.149570020T>C | CA1902250 | MMADHC | c.845A>G (p.Asn282Ser) c.947A>G (p.Asn316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570020T>G | CA348868852 | MMADHC | c.845A>C (p.Asn282Thr) c.947A>C (p.Asn316Thr) | |
2 | g.149570020T= | CA1297264279 | MMADHC | c.845A= (p.Asn282=) c.947A= (p.Asn316=) | |
2 | g.149570021T>A | CA348868854 | MMADHC | c.844A>T (p.Asn282Tyr) c.946A>T (p.Asn316Tyr) | |
2 | g.149570021T>C | CA348868856 | MMADHC | c.844A>G (p.Asn282Asp) c.946A>G (p.Asn316Asp) | gnomAD v4 |
2 | g.149570021T>G | CA348868858 | MMADHC | c.844A>C (p.Asn282His) c.946A>C (p.Asn316His) | |
2 | g.149570022A>C | CA429405871 | MMADHC | c.843T>G (p.Thr281=) c.945T>G (p.Thr315=) | |
2 | g.149570022A>G | CA429405872 | MMADHC | c.843T>C (p.Thr281=) c.945T>C (p.Thr315=) | |
2 | g.149570022A>T | CA429405873 | MMADHC | c.843T>A (p.Thr281=) c.945T>A (p.Thr315=) | |
2 | g.149570023G>A | CA1902252 | MMADHC | c.842C>T (p.Thr281Ile) c.944C>T (p.Thr315Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570023G>C | CA1902251 | MMADHC | c.842C>G (p.Thr281Ser) c.944C>G (p.Thr315Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570023G= | CA1297264280 | MMADHC | c.842C= (p.Thr281=) c.944C= (p.Thr315=) | |
2 | g.149570023G>T | CA348868862 | MMADHC | c.842C>A (p.Thr281Asn) c.944C>A (p.Thr315Asn) | |
2 | g.149570024T>A | CA348868864 | MMADHC | c.841A>T (p.Thr281Ser) c.943A>T (p.Thr315Ser) | |
2 | g.149570024T>C | CA348868866 | MMADHC | c.841A>G (p.Thr281Ala) c.943A>G (p.Thr315Ala) | |
2 | g.149570024T>G | CA348868868 | MMADHC | c.841A>C (p.Thr281Pro) c.943A>C (p.Thr315Pro) | |
2 | g.149570025G>A | CA429405874 | MMADHC | c.840C>T (p.Phe280=) c.942C>T (p.Phe314=) | ClinVar dbSNP |
2 | g.149570025G>C | CA348868872 | MMADHC | c.840C>G (p.Phe280Leu) c.942C>G (p.Phe314Leu) | |
2 | g.149570025G>T | CA348868870 | MMADHC | c.840C>A (p.Phe280Leu) c.942C>A (p.Phe314Leu) | |
2 | g.149570026A>C | CA348868874 | MMADHC | c.839T>G (p.Phe280Cys) c.941T>G (p.Phe314Cys) | |
2 | g.149570026A>G | CA348868876 | MMADHC | c.839T>C (p.Phe280Ser) c.941T>C (p.Phe314Ser) | |
2 | g.149570026A>T | CA348868878 | MMADHC | c.839T>A (p.Phe280Tyr) c.941T>A (p.Phe314Tyr) | |
2 | g.149570027A>C | CA348868882 | MMADHC | c.838T>G (p.Phe280Val) c.940T>G (p.Phe314Val) | |
2 | g.149570027A>G | CA348868883 | MMADHC | c.838T>C (p.Phe280Leu) c.940T>C (p.Phe314Leu) | |
2 | g.149570027A>T | CA348868885 | MMADHC | c.838T>A (p.Phe280Ile) c.940T>A (p.Phe314Ile) | |
2 | g.149570028del | CA2661422179 | MMADHC | c.837del (p.Phe280SerfsTer11) c.939del (p.Phe314SerfsTer11) | gnomAD v4 |
2 | g.149570028G>A | CA429405875 | MMADHC | c.837C>T (p.Ile279=) c.939C>T (p.Ile313=) | |
2 | g.149570028G>C | CA348868888 | MMADHC | c.837C>G (p.Ile279Met) c.939C>G (p.Ile313Met) | |
2 | g.149570028G>T | CA429405876 | MMADHC | c.837C>A (p.Ile279=) c.939C>A (p.Ile313=) | |
2 | g.149570029A>C | CA348868895 | MMADHC | c.836T>G (p.Ile279Ser) c.938T>G (p.Ile313Ser) | |
2 | g.149570029A>G | CA348868891 | MMADHC | c.836T>C (p.Ile279Thr) c.938T>C (p.Ile313Thr) | |
2 | g.149570029A>T | CA348868893 | MMADHC | c.836T>A (p.Ile279Asn) c.938T>A (p.Ile313Asn) | |
2 | g.149570030T>A | CA348868897 | MMADHC | c.835A>T (p.Ile279Phe) c.937A>T (p.Ile313Phe) | |
2 | g.149570030T>C | CA1902253 | MMADHC | c.835A>G (p.Ile279Val) c.937A>G (p.Ile313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570030T>G | CA348868901 | MMADHC | c.835A>C (p.Ile279Leu) c.937A>C (p.Ile313Leu) | |
2 | g.149570030T= | CA1297264281 | MMADHC | c.835A= (p.Ile279=) c.937A= (p.Ile313=) | |
2 | g.149570031A>C | CA348868904 | MMADHC | c.834T>G (p.Ser278Arg) c.936T>G (p.Ser312Arg) | |
2 | g.149570031A>G | CA429405877 | MMADHC | c.834T>C (p.Ser278=) c.936T>C (p.Ser312=) | |
2 | g.149570031A>T | CA348868906 | MMADHC | c.834T>A (p.Ser278Arg) c.936T>A (p.Ser312Arg) | |
2 | g.149570032C>A | CA348868908 | MMADHC | c.833G>T (p.Ser278Ile) c.935G>T (p.Ser312Ile) | |
2 | g.149570032C>G | CA348868913 | MMADHC | c.833G>C (p.Ser278Thr) c.935G>C (p.Ser312Thr) | |
2 | g.149570032C>T | CA348868910 | MMADHC | c.833G>A (p.Ser278Asn) c.935G>A (p.Ser312Asn) | |
2 | g.149570033T>A | CA348868915 | MMADHC | c.832A>T (p.Ser278Cys) c.934A>T (p.Ser312Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570033T>C | CA348868917 | MMADHC | c.832A>G (p.Ser278Gly) c.934A>G (p.Ser312Gly) | |
2 | g.149570033T>G | CA348868919 | MMADHC | c.832A>C (p.Ser278Arg) c.934A>C (p.Ser312Arg) | |
2 | g.149570033T= | CA1297264282 | MMADHC | c.832A= (p.Ser278=) c.934A= (p.Ser312=) | |
2 | g.149570034C>A | CA429405881 | MMADHC | c.831G>T (p.Gly277=) c.933G>T (p.Gly311=) | |
2 | g.149570034C>G | CA429405880 | MMADHC | c.831G>C (p.Gly277=) c.933G>C (p.Gly311=) | |
2 | g.149570034C>T | CA429405879 | MMADHC | c.831G>A (p.Gly277=) c.933G>A (p.Gly311=) | |
2 | g.149570035C>A | CA348868921 | MMADHC | c.830G>T (p.Gly277Val) c.932G>T (p.Gly311Val) | |
2 | g.149570035C>G | CA348868923 | MMADHC | c.830G>C (p.Gly277Ala) c.932G>C (p.Gly311Ala) | |
2 | g.149570035C>T | CA348868924 | MMADHC | c.830G>A (p.Gly277Glu) c.932G>A (p.Gly311Glu) | COSMIC |
2 | g.149570036C>A | CA348868928 | MMADHC | c.829G>T (p.Gly277Trp) c.931G>T (p.Gly311Trp) | |
2 | g.149570036C>G | CA348868929 | MMADHC | c.829G>C (p.Gly277Arg) c.931G>C (p.Gly311Arg) | |
2 | g.149570036C>T | CA348868931 | MMADHC | c.829G>A (p.Gly277Arg) c.931G>A (p.Gly311Arg) | |
2 | g.149570037T>A | CA429405883 | MMADHC | c.828A>T (p.Val276=) c.930A>T (p.Val310=) | |
2 | g.149570037T>C | CA58332356 | MMADHC | c.828A>G (p.Val276=) c.930A>G (p.Val310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570037T>G | CA429405884 | MMADHC | c.828A>C (p.Val276=) c.930A>C (p.Val310=) | |
2 | g.149570037T= | CA1297264283 | MMADHC | c.828A= (p.Val276=) c.930A= (p.Val310=) | |
2 | g.149570038A= | CA1297264284 | MMADHC | c.827T= (p.Val276=) c.929T= (p.Val310=) | |
2 | g.149570038A>C | CA348868934 | MMADHC | c.827T>G (p.Val276Gly) c.929T>G (p.Val310Gly) | |
2 | g.149570038A>G | CA348868936 | MMADHC | c.827T>C (p.Val276Ala) c.929T>C (p.Val310Ala) | dbSNP |
2 | g.149570038A>T | CA348868938 | MMADHC | c.827T>A (p.Val276Glu) c.929T>A (p.Val310Glu) |