Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149569901T>A | CA2518218522 | MMADHC | c.*73A>T (n.*73A>T) | |
2 | g.149569901T>G | CA2661422144 | MMADHC | c.*73A>C (n.*73A>C) | gnomAD v4 |
2 | g.149569902T>A | CA2567383926 | MMADHC | c.*72A>T (n.*72A>T) | |
2 | g.149569902T>C | CA1037732289 | MMADHC | c.*72A>G (n.*72A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569902T>G | CA2661422145 | MMADHC | c.*72A>C (n.*72A>C) | gnomAD v4 |
2 | g.149569902T= | CA1297264227 | MMADHC | c.*72A= (n.*72A=) | |
2 | g.149569903A>G | CA2661422146 | MMADHC | c.*71T>C (n.*71T>C) | gnomAD v4 |
2 | g.149569903A>T | CA2577116918 | MMADHC | c.*71T>A (n.*71T>A) | gnomAD v4 |
2 | g.149569904G>A | CA2661422147 | MMADHC | c.*70C>T (n.*70C>T) | gnomAD v4 |
2 | g.149569904G>T | CA2661422148 | MMADHC | c.*70C>A (n.*70C>A) | gnomAD v4 |
2 | g.149569906C>A | CA2661422149 | MMADHC | c.*68G>T (n.*68G>T) | gnomAD v4 |
2 | g.149569906C= | CA1297264228 | MMADHC | c.*68G= (n.*68G=) | |
2 | g.149569906C>G | CA2661422150 | MMADHC | c.*68G>C (n.*68G>C) | gnomAD v4 |
2 | g.149569906C>T | CA58332353 | MMADHC | c.*68G>A (n.*68G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569907T>A | CA1037732292 | MMADHC | c.*67A>T (n.*67A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569907T>C | CA2661422151 | MMADHC | c.*67A>G (n.*67A>G) | gnomAD v4 |
2 | g.149569907T= | CA1297264229 | MMADHC | c.*67A= (n.*67A=) | |
2 | g.149569908G>A | CA1037732293 | MMADHC | c.*66C>T (n.*66C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569908G>C | CA2661422152 | MMADHC | c.*66C>G (n.*66C>G) | gnomAD v4 |
2 | g.149569908G= | CA1297264230 | MMADHC | c.*66C= (n.*66C=) | |
2 | g.149569908G>T | CA2501272783 | MMADHC | c.*66C>A (n.*66C>A) | gnomAD v4 |
2 | g.149569909A>C | CA2661422153 | MMADHC | c.*65T>G (n.*65T>G) | gnomAD v4 |
2 | g.149569910C>A | CA2661422154 | MMADHC | c.*64G>T (n.*64G>T) | gnomAD v4 |
2 | g.149569910C>T | CA2661422155 | MMADHC | c.*64G>A (n.*64G>A) | gnomAD v4 |
2 | g.149569912G>A | CA1297264232 | MMADHC | c.*62C>T (n.*62C>T) | dbSNP gnomAD v4 |
2 | g.149569912G>C | CA2661422157 | MMADHC | c.*62C>G (n.*62C>G) | gnomAD v4 |
2 | g.149569912G= | CA1297264231 | MMADHC | c.*62C= (n.*62C=) | |
2 | g.149569912G>T | CA2661422156 | MMADHC | c.*62C>A (n.*62C>A) | gnomAD v4 |
2 | g.149569914_149569915del | CA2661422158 | MMADHC | c.*61_*62del (n.*61_*62del) | gnomAD v4 |
2 | g.149569913T>C | CA2661422159 | MMADHC | c.*61A>G (n.*61A>G) | gnomAD v4 |
2 | g.149569913_149569917del | CA2661422160 | MMADHC | c.*57_*61del (n.*57_*61del) | gnomAD v4 |
2 | g.149569914_149569917dup | CA1297264233 | MMADHC | c.*58_*61dup (n.*58_*61dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569914G>T | CA2577116919 | MMADHC | c.*60C>A (n.*60C>A) | gnomAD v4 |
2 | g.149569915T>G | CA2661422161 | MMADHC | c.*59A>C (n.*59A>C) | gnomAD v4 |
2 | g.149569916T>A | CA2661422162 | MMADHC | c.*58A>T (n.*58A>T) | gnomAD v4 |
2 | g.149569919T>C | CA58332354 | MMADHC | c.*55A>G (n.*55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569919T= | CA1297264234 | MMADHC | c.*55A= (n.*55A=) | |
2 | g.149569920A>G | CA2661422163 | MMADHC | c.*54T>C (n.*54T>C) | gnomAD v4 |
2 | g.149569921del | CA2661422164 | MMADHC | c.*53del (n.*53del) | gnomAD v4 |
2 | g.149569921G>A | CA2577116920 | MMADHC | c.*53C>T (n.*53C>T) | gnomAD v4 |
2 | g.149569921G>C | CA2661422165 | MMADHC | c.*53C>G (n.*53C>G) | gnomAD v4 |
2 | g.149569921G>T | CA2661422166 | MMADHC | c.*53C>A (n.*53C>A) | gnomAD v4 |
2 | g.149569922A>G | CA2661422167 | MMADHC | c.*52T>C (n.*52T>C) | gnomAD v4 |
2 | g.149569923T>A | CA537032325 | MMADHC | c.*51A>T (n.*51A>T) | dbSNP gnomAD v2 |
2 | g.149569923T>C | CA2577116921 | MMADHC | c.*51A>G (n.*51A>G) | |
2 | g.149569923T>G | CA1037732300 | MMADHC | c.*51A>C (n.*51A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149569923T= | CA1297264235 | MMADHC | c.*51A= (n.*51A=) | |
2 | g.149569925A>C | CA2661422168 | MMADHC | c.*49T>G (n.*49T>G) | gnomAD v4 |
2 | g.149569926A>G | CA2661422169 | MMADHC | c.*48T>C (n.*48T>C) | gnomAD v4 |
2 | g.149569928_149569941delinsCCAAATATTACATA | CA1297264236 | MMADHC | c.*33_*46delinsTATGTAATATTTGG (n.*33_*46delinsTATGTAATATTTGG) | |
2 | g.149569929C>A | CA537032326 | MMADHC | c.*45G>T (n.*45G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569929C= | CA1297264237 | MMADHC | c.*45G= (n.*45G=) | |
2 | g.149569929C>G | CA2661422170 | MMADHC | c.*45G>C (n.*45G>C) | gnomAD v4 |
2 | g.149569935_149569947del | CA1902233 | MMADHC | c.*33_*45del (n.*33_*45del) | dbSNP ExAC gnomAD v2 |
2 | g.149569932A= | CA1297264238 | MMADHC | c.*42T= (n.*42T=) | |
2 | g.149569932A>C | CA1902234 | MMADHC | c.*42T>G (n.*42T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149569934del | CA2577116922 | MMADHC | c.*40del (n.*40del) | |
2 | g.149569935T>C | CA537032327 | MMADHC | c.*39A>G (n.*39A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569935T= | CA1297264239 | MMADHC | c.*39A= (n.*39A=) | |
2 | g.149569936T>C | CA537032328 | MMADHC | c.*38A>G (n.*38A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569936T= | CA1297264240 | MMADHC | c.*38A= (n.*38A=) | |
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) |