Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570027A>CCA348868882MMADHCc.838T>G (p.Phe280Val)
c.940T>G (p.Phe314Val)
2g.149570027A>GCA348868883MMADHCc.838T>C (p.Phe280Leu)
c.940T>C (p.Phe314Leu)
2g.149570027A>TCA348868885MMADHCc.838T>A (p.Phe280Ile)
c.940T>A (p.Phe314Ile)
2g.149570028delCA2661422179MMADHCc.837del (p.Phe280SerfsTer11)
c.939del (p.Phe314SerfsTer11)
 gnomAD v4
2g.149570028G>ACA429405875MMADHCc.837C>T (p.Ile279=)
c.939C>T (p.Ile313=)
2g.149570028G>CCA348868888MMADHCc.837C>G (p.Ile279Met)
c.939C>G (p.Ile313Met)
2g.149570028G>TCA429405876MMADHCc.837C>A (p.Ile279=)
c.939C>A (p.Ile313=)
2g.149570029A>CCA348868895MMADHCc.836T>G (p.Ile279Ser)
c.938T>G (p.Ile313Ser)
2g.149570029A>GCA348868891MMADHCc.836T>C (p.Ile279Thr)
c.938T>C (p.Ile313Thr)
2g.149570029A>TCA348868893MMADHCc.836T>A (p.Ile279Asn)
c.938T>A (p.Ile313Asn)
2g.149570030T>ACA348868897MMADHCc.835A>T (p.Ile279Phe)
c.937A>T (p.Ile313Phe)
2g.149570030T>CCA1902253MMADHCc.835A>G (p.Ile279Val)
c.937A>G (p.Ile313Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570030T>GCA348868901MMADHCc.835A>C (p.Ile279Leu)
c.937A>C (p.Ile313Leu)
2g.149570030T=CA1297264281MMADHCc.835A= (p.Ile279=)
c.937A= (p.Ile313=)
2g.149570031A>CCA348868904MMADHCc.834T>G (p.Ser278Arg)
c.936T>G (p.Ser312Arg)
2g.149570031A>GCA429405877MMADHCc.834T>C (p.Ser278=)
c.936T>C (p.Ser312=)
2g.149570031A>TCA348868906MMADHCc.834T>A (p.Ser278Arg)
c.936T>A (p.Ser312Arg)
2g.149570032C>ACA348868908MMADHCc.833G>T (p.Ser278Ile)
c.935G>T (p.Ser312Ile)
2g.149570032C>GCA348868913MMADHCc.833G>C (p.Ser278Thr)
c.935G>C (p.Ser312Thr)
2g.149570032C>TCA348868910MMADHCc.833G>A (p.Ser278Asn)
c.935G>A (p.Ser312Asn)
2g.149570033T>ACA348868915MMADHCc.832A>T (p.Ser278Cys)
c.934A>T (p.Ser312Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.149570033T>CCA348868917MMADHCc.832A>G (p.Ser278Gly)
c.934A>G (p.Ser312Gly)
2g.149570033T>GCA348868919MMADHCc.832A>C (p.Ser278Arg)
c.934A>C (p.Ser312Arg)
2g.149570033T=CA1297264282MMADHCc.832A= (p.Ser278=)
c.934A= (p.Ser312=)
2g.149570034C>ACA429405881MMADHCc.831G>T (p.Gly277=)
c.933G>T (p.Gly311=)
2g.149570034C>GCA429405880MMADHCc.831G>C (p.Gly277=)
c.933G>C (p.Gly311=)
2g.149570034C>TCA429405879MMADHCc.831G>A (p.Gly277=)
c.933G>A (p.Gly311=)
2g.149570035C>ACA348868921MMADHCc.830G>T (p.Gly277Val)
c.932G>T (p.Gly311Val)
2g.149570035C>GCA348868923MMADHCc.830G>C (p.Gly277Ala)
c.932G>C (p.Gly311Ala)
2g.149570035C>TCA348868924MMADHCc.830G>A (p.Gly277Glu)
c.932G>A (p.Gly311Glu)
 COSMIC
2g.149570036C>ACA348868928MMADHCc.829G>T (p.Gly277Trp)
c.931G>T (p.Gly311Trp)
2g.149570036C>GCA348868929MMADHCc.829G>C (p.Gly277Arg)
c.931G>C (p.Gly311Arg)
2g.149570036C>TCA348868931MMADHCc.829G>A (p.Gly277Arg)
c.931G>A (p.Gly311Arg)
2g.149570037T>ACA429405883MMADHCc.828A>T (p.Val276=)
c.930A>T (p.Val310=)
2g.149570037T>CCA58332356MMADHCc.828A>G (p.Val276=)
c.930A>G (p.Val310=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.149570037T>GCA429405884MMADHCc.828A>C (p.Val276=)
c.930A>C (p.Val310=)
2g.149570037T=CA1297264283MMADHCc.828A= (p.Val276=)
c.930A= (p.Val310=)
2g.149570038A=CA1297264284MMADHCc.827T= (p.Val276=)
c.929T= (p.Val310=)
2g.149570038A>CCA348868934MMADHCc.827T>G (p.Val276Gly)
c.929T>G (p.Val310Gly)
2g.149570038A>GCA348868936MMADHCc.827T>C (p.Val276Ala)
c.929T>C (p.Val310Ala)
 dbSNP
2g.149570038A>TCA348868938MMADHCc.827T>A (p.Val276Glu)
c.929T>A (p.Val310Glu)
2g.149570039C>ACA348868940MMADHCc.826G>T (p.Val276Leu)
c.928G>T (p.Val310Leu)
 gnomAD v4
2g.149570039C=CA1297264285MMADHCc.826G= (p.Val276=)
c.928G= (p.Val310=)
2g.149570039C>GCA348868942MMADHCc.826G>C (p.Val276Leu)
c.928G>C (p.Val310Leu)
2g.149570039C>TCA348868941MMADHCc.826G>A (p.Val276Ile)
c.928G>A (p.Val310Ile)
 dbSNP gnomAD v4
2g.149570040A>CCA429405885MMADHCc.825T>G (p.Val275=)
c.927T>G (p.Val309=)
2g.149570040A>GCA429405886MMADHCc.825T>C (p.Val275=)
c.927T>C (p.Val309=)
 ClinVar
2g.149570040A>TCA429405888MMADHCc.825T>A (p.Val275=)
c.927T>A (p.Val309=)
2g.149570041_149570044dupCA2661422180MMADHCc.822_825dup (p.Val276SerfsTer8)
c.924_927dup (p.Val310SerfsTer8)
 gnomAD v4
2g.149570041A>CCA348868944MMADHCc.824T>G (p.Val275Gly)
c.926T>G (p.Val309Gly)
 gnomAD v4
2g.149570041A>GCA348868948MMADHCc.824T>C (p.Val275Ala)
c.926T>C (p.Val309Ala)
2g.149570041A>TCA348868945MMADHCc.824T>A (p.Val275Asp)
c.926T>A (p.Val309Asp)
2g.149570042delCA2661422181MMADHCc.823del (p.Val275LeufsTer2)
c.925del (p.Val309LeufsTer2)
 gnomAD v4
2g.149570042C>ACA348868950MMADHCc.823G>T (p.Val275Phe)
c.925G>T (p.Val309Phe)
2g.149570042C>GCA348868953MMADHCc.823G>C (p.Val275Leu)
c.925G>C (p.Val309Leu)
2g.149570042C>TCA348868954MMADHCc.823G>A (p.Val275Ile)
c.925G>A (p.Val309Ile)
2g.149570043T>ACA429405889MMADHCc.822A>T (p.Val274=)
c.924A>T (p.Val308=)
2g.149570043T>CCA429405890MMADHCc.822A>G (p.Val274=)
c.924A>G (p.Val308=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.149570043T>GCA429405891MMADHCc.822A>C (p.Val274=)
c.924A>C (p.Val308=)
2g.149570043T=CA1297264286MMADHCc.822A= (p.Val274=)
c.924A= (p.Val308=)
2g.149570044A>CCA348868957MMADHCc.821T>G (p.Val274Gly)
c.923T>G (p.Val308Gly)
2g.149570044A>GCA348868959MMADHCc.821T>C (p.Val274Ala)
c.923T>C (p.Val308Ala)
2g.149570044A>TCA348868962MMADHCc.821T>A (p.Val274Glu)
c.923T>A (p.Val308Glu)
2g.149570045C>ACA1902254MMADHCc.820G>T (p.Val274Leu)
c.922G>T (p.Val308Leu)
 dbSNP ExAC
2g.149570045C=CA1297264287MMADHCc.820G= (p.Val274=)
c.922G= (p.Val308=)
2g.149570045C>GCA348868966MMADHCc.820G>C (p.Val274Leu)
c.922G>C (p.Val308Leu)
2g.149570045C>TCA348868968MMADHCc.820G>A (p.Val274Ile)
c.922G>A (p.Val308Ile)
 dbSNP
2g.149570046A=CA1297264288MMADHCc.819T= (p.His273=)
c.921T= (p.His307=)
2g.149570046A>CCA1902255MMADHCc.819T>G (p.His273Gln)
c.921T>G (p.His307Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570046A>GCA429405892MMADHCc.819T>C (p.His273=)
c.921T>C (p.His307=)
 ClinVar dbSNP gnomAD v4
2g.149570046A>TCA348868971MMADHCc.819T>A (p.His273Gln)
c.921T>A (p.His307Gln)
2g.149570047T>ACA348868975MMADHCc.818A>T (p.His273Leu)
c.920A>T (p.His307Leu)
2g.149570047T>CCA348868974MMADHCc.818A>G (p.His273Arg)
c.920A>G (p.His307Arg)
 gnomAD v4
2g.149570047T>GCA348868973MMADHCc.818A>C (p.His273Pro)
c.920A>C (p.His307Pro)
2g.149570048G>ACA348868994MMADHCc.817C>T (p.His273Tyr)
c.919C>T (p.His307Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.149570048G>CCA348868995MMADHCc.817C>G (p.His273Asp)
c.919C>G (p.His307Asp)
2g.149570048G=CA1297264289MMADHCc.817C= (p.His273=)
c.919C= (p.His307=)
2g.149570048G>TCA348868997MMADHCc.817C>A (p.His273Asn)
c.919C>A (p.His307Asn)
2g.149570049G>ACA429405893MMADHCc.816C>T (p.Thr272=)
c.918C>T (p.Thr306=)
2g.149570049G>CCA429405894MMADHCc.816C>G (p.Thr272=)
c.918C>G (p.Thr306=)
 COSMIC
2g.149570049G>TCA429405895MMADHCc.816C>A (p.Thr272=)
c.918C>A (p.Thr306=)
2g.149570050G>ACA348868998MMADHCc.815C>T (p.Thr272Ile)
c.917C>T (p.Thr306Ile)
2g.149570050G>CCA348869000MMADHCc.815C>G (p.Thr272Ser)
c.917C>G (p.Thr306Ser)
2g.149570050G=CA1297264290MMADHCc.815C= (p.Thr272=)
c.917C= (p.Thr306=)
2g.149570050G>TCA1902256MMADHCc.815C>A (p.Thr272Asn)
c.917C>A (p.Thr306Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570051T>ACA348869003MMADHCc.814A>T (p.Thr272Ser)
c.916A>T (p.Thr306Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.149570051T>CCA348869005MMADHCc.814A>G (p.Thr272Ala)
c.916A>G (p.Thr306Ala)
2g.149570051T>GCA348869007MMADHCc.814A>C (p.Thr272Pro)
c.916A>C (p.Thr306Pro)
2g.149570051T=CA1297264291MMADHCc.814A= (p.Thr272=)
c.916A= (p.Thr306=)
2g.149570052A>CCA429405896MMADHCc.813T>G (p.Gly271=)
c.915T>G (p.Gly305=)
2g.149570052A>GCA429405897MMADHCc.813T>C (p.Gly271=)
c.915T>C (p.Gly305=)
2g.149570052A>TCA429405898MMADHCc.813T>A (p.Gly271=)
c.915T>A (p.Gly305=)
2g.149570053C>ACA348869009MMADHCc.812G>T (p.Gly271Val)
c.914G>T (p.Gly305Val)
 dbSNP gnomAD v4
2g.149570053C=CA1297264292MMADHCc.812G= (p.Gly271=)
c.914G= (p.Gly305=)
2g.149570053C>GCA348869012MMADHCc.812G>C (p.Gly271Ala)
c.914G>C (p.Gly305Ala)
 gnomAD v4
2g.149570053C>TCA1902257MMADHCc.812G>A (p.Gly271Asp)
c.914G>A (p.Gly305Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570054C>ACA348869020MMADHCc.811G>T (p.Gly271Cys)
c.913G>T (p.Gly305Cys)
 dbSNP gnomAD v4 COSMIC
2g.149570054C=CA1297264293MMADHCc.811G= (p.Gly271=)
c.913G= (p.Gly305=)
2g.149570054C>GCA348869018MMADHCc.811G>C (p.Gly271Arg)
c.913G>C (p.Gly305Arg)
2g.149570054C>TCA348869016MMADHCc.811G>A (p.Gly271Ser)
c.913G>A (p.Gly305Ser)
2g.149570055C>ACA348869022MMADHCc.810G>T (p.Trp270Cys)
c.912G>T (p.Trp304Cys)
2g.149570055C>GCA348869025MMADHCc.810G>C (p.Trp270Cys)
c.912G>C (p.Trp304Cys)
2g.149570055C>TCA348869027MMADHCc.810G>A (p.Trp270Ter)
c.912G>A (p.Trp304Ter)
2g.149570055_149570057delinsCCACA1297264294MMADHCc.808_810delinsTGG (p.Trp270=)
c.910_912delinsTGG (p.Trp304=)
2g.149570056C>ACA348869029MMADHCc.809G>T (p.Trp270Leu)
c.911G>T (p.Trp304Leu)
2g.149570056C>GCA348869031MMADHCc.809G>C (p.Trp270Ser)
c.911G>C (p.Trp304Ser)
2g.149570056C>TCA348869032MMADHCc.809G>A (p.Trp270Ter)
c.911G>A (p.Trp304Ter)
 COSMIC
2g.149570056_149570057delCA1297264295MMADHCc.808_809del (p.Trp270GlyfsTer12)
c.910_911del (p.Trp304GlyfsTer12)
 dbSNP
2g.149570057A>CCA348869034MMADHCc.808T>G (p.Trp270Gly)
c.910T>G (p.Trp304Gly)
2g.149570057A>GCA348869036MMADHCc.808T>C (p.Trp270Arg)
c.910T>C (p.Trp304Arg)
 ClinVar dbSNP gnomAD v4
2g.149570057A>TCA348869038MMADHCc.808T>A (p.Trp270Arg)
c.910T>A (p.Trp304Arg)
2g.149570058G>ACA429405899MMADHCc.807C>T (p.Leu269=)
c.909C>T (p.Leu303=)
 dbSNP gnomAD v2 gnomAD v4
2g.149570058G>CCA429405900MMADHCc.807C>G (p.Leu269=)
c.909C>G (p.Leu303=)
2g.149570058G=CA1297264296MMADHCc.807C= (p.Leu269=)
c.909C= (p.Leu303=)
2g.149570058G>TCA429405901MMADHCc.807C>A (p.Leu269=)
c.909C>A (p.Leu303=)
2g.149570059A=CA1297264297MMADHCc.806T= (p.Leu269=)
c.908T= (p.Leu303=)
2g.149570059A>CCA348869039MMADHCc.806T>G (p.Leu269Arg)
c.908T>G (p.Leu303Arg)
 gnomAD v4
2g.149570059A>GCA348869041MMADHCc.806T>C (p.Leu269Pro)
c.908T>C (p.Leu303Pro)
 dbSNP
2g.149570059A>TCA348869043MMADHCc.806T>A (p.Leu269His)
c.908T>A (p.Leu303His)
2g.149570060G>ACA348869047MMADHCc.805C>T (p.Leu269Phe)
c.907C>T (p.Leu303Phe)
 gnomAD v4
2g.149570060G>CCA348869049MMADHCc.805C>G (p.Leu269Val)
c.907C>G (p.Leu303Val)
 gnomAD v4
2g.149570060G>TCA348869045MMADHCc.805C>A (p.Leu269Ile)
c.907C>A (p.Leu303Ile)
2g.149570061A=CA1297264298MMADHCc.804T= (p.Ser268=)
c.906T= (p.Ser302=)
2g.149570061A>CCA348869051MMADHCc.804T>G (p.Ser268Arg)
c.906T>G (p.Ser302Arg)
 dbSNP
2g.149570061A>GCA429405903MMADHCc.804T>C (p.Ser268=)
c.906T>C (p.Ser302=)
2g.149570061A>TCA348869053MMADHCc.804T>A (p.Ser268Arg)
c.906T>A (p.Ser302Arg)
 gnomAD v4
2g.149570062C>ACA348869054MMADHCc.803G>T (p.Ser268Ile)
c.905G>T (p.Ser302Ile)
2g.149570062C>GCA348869056MMADHCc.803G>C (p.Ser268Thr)
c.905G>C (p.Ser302Thr)
2g.149570062C>TCA348869058MMADHCc.803G>A (p.Ser268Asn)
c.905G>A (p.Ser302Asn)
 gnomAD v4
2g.149570063T>ACA348869064MMADHCc.802A>T (p.Ser268Cys)
c.904A>T (p.Ser302Cys)
2g.149570063T>CCA348869061MMADHCc.802A>G (p.Ser268Gly)
c.904A>G (p.Ser302Gly)
2g.149570063T>GCA348869063MMADHCc.802A>C (p.Ser268Arg)
c.904A>C (p.Ser302Arg)
 dbSNP gnomAD v4
2g.149570063T=CA1297264299MMADHCc.802A= (p.Ser268=)
c.904A= (p.Ser302=)
2g.149570064A>CCA348869068MMADHCc.801T>G (p.His267Gln)
c.903T>G (p.His301Gln)
2g.149570064A>GCA429405904MMADHCc.801T>C (p.His267=)
c.903T>C (p.His301=)
2g.149570064A>TCA348869070MMADHCc.801T>A (p.His267Gln)
c.903T>A (p.His301Gln)
2g.149570065T>ACA348869072MMADHCc.800A>T (p.His267Leu)
c.902A>T (p.His301Leu)
2g.149570065T>CCA1902258MMADHCc.800A>G (p.His267Arg)
c.902A>G (p.His301Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.149570065T>GCA348869074MMADHCc.800A>C (p.His267Pro)
c.902A>C (p.His301Pro)
2g.149570065T=CA1297264300MMADHCc.800A= (p.His267=)
c.902A= (p.His301=)
2g.149570066G>ACA348869077MMADHCc.799C>T (p.His267Tyr)
c.901C>T (p.His301Tyr)
2g.149570066G>CCA348869081MMADHCc.799C>G (p.His267Asp)
c.901C>G (p.His301Asp)
2g.149570066G>TCA348869079MMADHCc.799C>A (p.His267Asn)
c.901C>A (p.His301Asn)
2g.149570067A>CCA429405905MMADHCc.798T>G (p.Arg266=)
c.900T>G (p.Arg300=)
2g.149570067A>GCA429405907MMADHCc.798T>C (p.Arg266=)
c.900T>C (p.Arg300=)
2g.149570067A>TCA429405906MMADHCc.798T>A (p.Arg266=)
c.900T>A (p.Arg300=)
2g.149570068C>ACA1902259MMADHCc.797G>T (p.Arg266Leu)
c.899G>T (p.Arg300Leu)
 dbSNP ExAC gnomAD v4
2g.149570068C=CA1297264301MMADHCc.797G= (p.Arg266=)
c.899G= (p.Arg300=)
2g.149570068C>GCA348869086MMADHCc.797G>C (p.Arg266Pro)
c.899G>C (p.Arg300Pro)
2g.149570068C>TCA1902260MMADHCc.797G>A (p.Arg266His)
c.899G>A (p.Arg300His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570069G>ACA348869088MMADHCc.796C>T (p.Arg266Cys)
c.898C>T (p.Arg300Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570069G>CCA348869093MMADHCc.796C>G (p.Arg266Gly)
c.898C>G (p.Arg300Gly)
 gnomAD v4
2g.149570069G=CA1297264302MMADHCc.796C= (p.Arg266=)
c.898C= (p.Arg300=)
2g.149570069G>TCA348869090MMADHCc.796C>A (p.Arg266Ser)
c.898C>A (p.Arg300Ser)
2g.149570070A=CA1297264303MMADHCc.795T= (p.Ile265=)
c.897T= (p.Ile299=)
2g.149570070A>CCA348869095MMADHCc.795T>G (p.Ile265Met)
c.897T>G (p.Ile299Met)
2g.149570070A>GCA429405908MMADHCc.795T>C (p.Ile265=)
c.897T>C (p.Ile299=)
 ClinVar dbSNP
2g.149570070A>TCA429405909MMADHCc.795T>A (p.Ile265=)
c.897T>A (p.Ile299=)
 dbSNP gnomAD v3 gnomAD v4
2g.149570070_149570071insTACA2661422182MMADHCc.795_796insAT (p.Arg266IlefsTer10)
c.897_898insAT (p.Arg300IlefsTer10)
 gnomAD v4
2g.149570071A>CCA348869097MMADHCc.794T>G (p.Ile265Ser)
c.896T>G (p.Ile299Ser)
2g.149570071A>GCA348869099MMADHCc.794T>C (p.Ile265Thr)
c.896T>C (p.Ile299Thr)
2g.149570071A>TCA348869100MMADHCc.794T>A (p.Ile265Asn)
c.896T>A (p.Ile299Asn)
2g.149570072T>ACA348869102MMADHCc.793A>T (p.Ile265Phe)
c.895A>T (p.Ile299Phe)
2g.149570072T>CCA348869104MMADHCc.793A>G (p.Ile265Val)
c.895A>G (p.Ile299Val)
2g.149570072T>GCA348869106MMADHCc.793A>C (p.Ile265Leu)
c.895A>C (p.Ile299Leu)
 gnomAD v4
2g.149570073C>ACA429405910MMADHCc.792G>T (p.Val264=)
c.894G>T (p.Val298=)
2g.149570073C>GCA429405912MMADHCc.792G>C (p.Val264=)
c.894G>C (p.Val298=)
2g.149570073C>TCA429405911MMADHCc.792G>A (p.Val264=)
c.894G>A (p.Val298=)
 gnomAD v4
2g.149570074A>CCA348869108MMADHCc.791T>G (p.Val264Gly)
c.893T>G (p.Val298Gly)
2g.149570074A>GCA348869110MMADHCc.791T>C (p.Val264Ala)
c.893T>C (p.Val298Ala)
2g.149570074A>TCA348869111MMADHCc.791T>A (p.Val264Glu)
c.893T>A (p.Val298Glu)
2g.149570075C>ACA348869119MMADHCc.790G>T (p.Val264Leu)
c.892G>T (p.Val298Leu)
 dbSNP
2g.149570075C=CA1297264304MMADHCc.790G= (p.Val264=)
c.892G= (p.Val298=)
2g.149570075C>GCA348869115MMADHCc.790G>C (p.Val264Leu)
c.892G>C (p.Val298Leu)
2g.149570075C>TCA348869117MMADHCc.790G>A (p.Val264Met)
c.892G>A (p.Val298Met)
2g.149570076T>ACA348869122MMADHCc.789A>T (p.Lys263Asn)
c.891A>T (p.Lys297Asn)
2g.149570076T>CCA429405913MMADHCc.789A>G (p.Lys263=)
c.891A>G (p.Lys297=)
2g.149570076T>GCA348869124MMADHCc.789A>C (p.Lys263Asn)
c.891A>C (p.Lys297Asn)
2g.149570077T>ACA348869127MMADHCc.788A>T (p.Lys263Ile)
c.890A>T (p.Lys297Ile)
2g.149570077T>CCA348869129MMADHCc.788A>G (p.Lys263Arg)
c.890A>G (p.Lys297Arg)
2g.149570077T>GCA348869131MMADHCc.788A>C (p.Lys263Thr)
c.890A>C (p.Lys297Thr)
2g.149570078T>ACA348869134MMADHCc.787A>T (p.Lys263Ter)
c.889A>T (p.Lys297Ter)
 ClinVar
2g.149570078T>CCA1902261MMADHCc.787A>G (p.Lys263Glu)
c.889A>G (p.Lys297Glu)
 dbSNP ExAC gnomAD v2
2g.149570078T>GCA348869137MMADHCc.787A>C (p.Lys263Gln)
c.889A>C (p.Lys297Gln)
2g.149570078T=CA1297264305MMADHCc.787A= (p.Lys263=)
c.889A= (p.Lys297=)
2g.149570079A=CA1297264306MMADHCc.786T= (p.Cys262=)
c.888T= (p.Cys296=)
2g.149570079A>CCA348869139MMADHCc.786T>G (p.Cys262Trp)
c.888T>G (p.Cys296Trp)
 dbSNP gnomAD v2 gnomAD v4
2g.149570079A>GCA429405914MMADHCc.786T>C (p.Cys262=)
c.888T>C (p.Cys296=)
2g.149570079A>TCA348869141MMADHCc.786T>A (p.Cys262Ter)
c.888T>A (p.Cys296Ter)
2g.149570080C>ACA348869147MMADHCc.785G>T (p.Cys262Phe)
c.887G>T (p.Cys296Phe)
2g.149570080C=CA1297264307MMADHCc.785G= (p.Cys262=)
c.887G= (p.Cys296=)
2g.149570080C>GCA348869150MMADHCc.785G>C (p.Cys262Ser)
c.887G>C (p.Cys296Ser)
2g.149570080C>TCA1902262MMADHCc.785G>A (p.Cys262Tyr)
c.887G>A (p.Cys296Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570081A>CCA348869152MMADHCc.784T>G (p.Cys262Gly)
c.886T>G (p.Cys296Gly)
2g.149570081A>GCA348869155MMADHCc.784T>C (p.Cys262Arg)
c.886T>C (p.Cys296Arg)
2g.149570081A>TCA348869157MMADHCc.784T>A (p.Cys262Ser)
c.886T>A (p.Cys296Ser)
2g.149570082G>ACA429405915MMADHCc.783C>T (p.Cys261=)
c.885C>T (p.Cys295=)
2g.149570082G>CCA348869160MMADHCc.783C>G (p.Cys261Trp)
c.885C>G (p.Cys295Trp)
2g.149570082G>TCA348869161MMADHCc.783C>A (p.Cys261Ter)
c.885C>A (p.Cys295Ter)
2g.149570083C>ACA348869165MMADHCc.782G>T (p.Cys261Phe)
c.884G>T (p.Cys295Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.149570083C=CA1297264308MMADHCc.782G= (p.Cys261=)
c.884G= (p.Cys295=)
2g.149570083C>GCA348869166MMADHCc.782G>C (p.Cys261Ser)
c.884G>C (p.Cys295Ser)
2g.149570083C>TCA348869168MMADHCc.782G>A (p.Cys261Tyr)
c.884G>A (p.Cys295Tyr)
2g.149570084A=CA1297264309MMADHCc.781T= (p.Cys261=)
c.883T= (p.Cys295=)
2g.149570084A>CCA348869170MMADHCc.781T>G (p.Cys261Gly)
c.883T>G (p.Cys295Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.149570084A>GCA348869171MMADHCc.781T>C (p.Cys261Arg)
c.883T>C (p.Cys295Arg)
2g.149570084A>TCA348869173MMADHCc.781T>A (p.Cys261Ser)
c.883T>A (p.Cys295Ser)
2g.149570085T>ACA429405916MMADHCc.780A>T (p.Gly260=)
c.882A>T (p.Gly294=)
 dbSNP
2g.149570085T>CCA429405917MMADHCc.780A>G (p.Gly260=)
c.882A>G (p.Gly294=)
2g.149570085T>GCA429405918MMADHCc.780A>C (p.Gly260=)
c.882A>C (p.Gly294=)
2g.149570085T=CA1297264310MMADHCc.780A= (p.Gly260=)
c.882A= (p.Gly294=)
2g.149570086C>ACA348869178MMADHCc.779G>T (p.Gly260Val)
c.881G>T (p.Gly294Val)
2g.149570086C>GCA348869180MMADHCc.779G>C (p.Gly260Ala)
c.881G>C (p.Gly294Ala)
2g.149570086C>TCA348869175MMADHCc.779G>A (p.Gly260Glu)
c.881G>A (p.Gly294Glu)
2g.149570087C>ACA348869182MMADHCc.778G>T (p.Gly260Ter)
c.880G>T (p.Gly294Ter)
2g.149570087C>GCA348869184MMADHCc.778G>C (p.Gly260Arg)
c.880G>C (p.Gly294Arg)
 COSMIC
2g.149570087C>TCA348869186MMADHCc.778G>A (p.Gly260Arg)
c.880G>A (p.Gly294Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.149570088A>CCA429405919MMADHCc.777T>G (p.Leu259=)
c.879T>G (p.Leu293=)
2g.149570088A>GCA429405920MMADHCc.777T>C (p.Leu259=)
c.879T>C (p.Leu293=)
2g.149570088A>TCA429405921MMADHCc.777T>A (p.Leu259=)
c.879T>A (p.Leu293=)
2g.149570089A=CA1297264311MMADHCc.776T= (p.Leu259=)
c.878T= (p.Leu293=)
2g.149570089A>CCA348869189MMADHCc.776T>G (p.Leu259Arg)
c.878T>G (p.Leu293Arg)
2g.149570089A>GCA114486MMADHCc.776T>C (p.Leu259Pro)
c.878T>C (p.Leu293Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570089A>TCA348869193MMADHCc.776T>A (p.Leu259His)
c.878T>A (p.Leu293His)
2g.149570090G>ACA1902263MMADHCc.775C>T (p.Leu259Phe)
c.877C>T (p.Leu293Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570090G>CCA1902264MMADHCc.775C>G (p.Leu259Val)
c.877C>G (p.Leu293Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.149570090G=CA1297264312MMADHCc.775C= (p.Leu259=)
c.877C= (p.Leu293=)
2g.149570090G>TCA348869197MMADHCc.775C>A (p.Leu259Ile)
c.877C>A (p.Leu293Ile)
2g.149570091G>ACA429405922MMADHCc.774C>T (p.Asp258=)
c.876C>T (p.Asp292=)
2g.149570091G>CCA348869201MMADHCc.774C>G (p.Asp258Glu)
c.876C>G (p.Asp292Glu)
2g.149570091G=CA1297264313MMADHCc.774C= (p.Asp258=)
c.876C= (p.Asp292=)
2g.149570091G>TCA58332357MMADHCc.774C>A (p.Asp258Glu)
c.876C>A (p.Asp292Glu)
 dbSNP
2g.149570091_149570106delCA2752638764MMADHCc.759_774del (p.Phe254LeufsTer6)
c.861_876del (p.Phe288LeufsTer6)
2g.149570092T>ACA348869205MMADHCc.773A>T (p.Asp258Val)
c.875A>T (p.Asp292Val)
2g.149570092T>CCA348869207MMADHCc.773A>G (p.Asp258Gly)
c.875A>G (p.Asp292Gly)
2g.149570092T>GCA348869210MMADHCc.773A>C (p.Asp258Ala)
c.875A>C (p.Asp292Ala)
2g.149570093C>ACA348869213MMADHCc.772G>T (p.Asp258Tyr)
c.874G>T (p.Asp292Tyr)
2g.149570093C>GCA348869216MMADHCc.772G>C (p.Asp258His)
c.874G>C (p.Asp292His)
2g.149570093C>TCA348869212MMADHCc.772G>A (p.Asp258Asn)
c.874G>A (p.Asp292Asn)
2g.149570094A>CCA348869218MMADHCc.771T>G (p.Asp257Glu)
c.873T>G (p.Asp291Glu)
2g.149570094A>GCA429405923MMADHCc.771T>C (p.Asp257=)
c.873T>C (p.Asp291=)
2g.149570094A>TCA348869220MMADHCc.771T>A (p.Asp257Glu)
c.873T>A (p.Asp291Glu)
2g.149570095T>ACA348869222MMADHCc.770A>T (p.Asp257Val)
c.872A>T (p.Asp291Val)
2g.149570095T>CCA348869224MMADHCc.770A>G (p.Asp257Gly)
c.872A>G (p.Asp291Gly)
 gnomAD v4
2g.149570095T>GCA348869227MMADHCc.770A>C (p.Asp257Ala)
c.872A>C (p.Asp291Ala)
2g.149570096C>ACA1902265MMADHCc.769G>T (p.Asp257Tyr)
c.871G>T (p.Asp291Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570096C=CA1297264314MMADHCc.769G= (p.Asp257=)
c.871G= (p.Asp291=)
2g.149570096C>GCA58332358MMADHCc.769G>C (p.Asp257His)
c.871G>C (p.Asp291His)
 dbSNP gnomAD v3 gnomAD v4
2g.149570096C>TCA348869229MMADHCc.769G>A (p.Asp257Asn)
c.871G>A (p.Asp291Asn)
2g.149570097A>CCA429405924MMADHCc.768T>G (p.Val256=)
c.870T>G (p.Val290=)
2g.149570097A>GCA429405925MMADHCc.768T>C (p.Val256=)
c.870T>C (p.Val290=)
2g.149570097A>TCA429405926MMADHCc.768T>A (p.Val256=)
c.870T>A (p.Val290=)
2g.149570098A=CA1297264315MMADHCc.767T= (p.Val256=)
c.869T= (p.Val290=)
2g.149570098A>CCA348869233MMADHCc.767T>G (p.Val256Gly)
c.869T>G (p.Val290Gly)
2g.149570098A>GCA348869235MMADHCc.767T>C (p.Val256Ala)
c.869T>C (p.Val290Ala)
 dbSNP
2g.149570098A>TCA348869237MMADHCc.767T>A (p.Val256Asp)
c.869T>A (p.Val290Asp)
2g.149570099C>ACA348869239MMADHCc.766G>T (p.Val256Phe)
c.868G>T (p.Val290Phe)
2g.149570099C=CA1297264316MMADHCc.766G= (p.Val256=)
c.868G= (p.Val290=)
2g.149570099C>GCA348869241MMADHCc.766G>C (p.Val256Leu)
c.868G>C (p.Val290Leu)
 ClinVar gnomAD v4
2g.149570099C>TCA1902266MMADHCc.766G>A (p.Val256Ile)
c.868G>A (p.Val290Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570100A=CA1297264317MMADHCc.765T= (p.Ser255=)
c.867T= (p.Ser289=)
2g.149570100A>CCA429405927MMADHCc.765T>G (p.Ser255=)
c.867T>G (p.Ser289=)
2g.149570100A>GCA1902267MMADHCc.765T>C (p.Ser255=)
c.867T>C (p.Ser289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570100A>TCA429405928MMADHCc.765T>A (p.Ser255=)
c.867T>A (p.Ser289=)
2g.149570103_149570104delCA2580611694MMADHCc.764_765del (p.Ser255CysfsTer2)
c.866_867del (p.Ser289CysfsTer2)
 ClinVar dbSNP
2g.149570101G>ACA348869246MMADHCc.764C>T (p.Ser255Phe)
c.866C>T (p.Ser289Phe)
2g.149570101G>CCA1902268MMADHCc.764C>G (p.Ser255Cys)
c.866C>G (p.Ser289Cys)
 ClinVar dbSNP ExAC gnomAD v4
2g.149570101G=CA1297264318MMADHCc.764C= (p.Ser255=)
c.866C= (p.Ser289=)
2g.149570101G>TCA348869248MMADHCc.764C>A (p.Ser255Tyr)
c.866C>A (p.Ser289Tyr)
2g.149570102A>CCA348869251MMADHCc.763T>G (p.Ser255Ala)
c.865T>G (p.Ser289Ala)
2g.149570102A>GCA348869252MMADHCc.763T>C (p.Ser255Pro)
c.865T>C (p.Ser289Pro)
2g.149570102A>TCA348869255MMADHCc.763T>A (p.Ser255Thr)
c.865T>A (p.Ser289Thr)
2g.149570103G>ACA429405929MMADHCc.762C>T (p.Phe254=)
c.864C>T (p.Phe288=)
2g.149570103G>CCA348869257MMADHCc.762C>G (p.Phe254Leu)
c.864C>G (p.Phe288Leu)
 gnomAD v4
2g.149570103G=CA1297264319MMADHCc.762C= (p.Phe254=)
c.864C= (p.Phe288=)
2g.149570103G>TCA1902269MMADHCc.762C>A (p.Phe254Leu)
c.864C>A (p.Phe288Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570104A=CA1297264320MMADHCc.761T= (p.Phe254=)
c.863T= (p.Phe288=)
2g.149570104A>CCA348869261MMADHCc.761T>G (p.Phe254Cys)
c.863T>G (p.Phe288Cys)
 dbSNP gnomAD v4
2g.149570104A>GCA348869263MMADHCc.761T>C (p.Phe254Ser)
c.863T>C (p.Phe288Ser)
2g.149570104A>TCA348869266MMADHCc.761T>A (p.Phe254Tyr)
c.863T>A (p.Phe288Tyr)
 gnomAD v4
2g.149570105A>CCA348869268MMADHCc.760T>G (p.Phe254Val)
c.862T>G (p.Phe288Val)
2g.149570105A>GCA348869270MMADHCc.760T>C (p.Phe254Leu)
c.862T>C (p.Phe288Leu)
2g.149570105A>TCA348869273MMADHCc.760T>A (p.Phe254Ile)
c.862T>A (p.Phe288Ile)
2g.149570106T>ACA10611311MMADHCc.759A>T (p.Gly253=)
c.861A>T (p.Gly287=)
 ClinVar dbSNP gnomAD v2
2g.149570106T>CCA429405930MMADHCc.759A>G (p.Gly253=)
c.861A>G (p.Gly287=)
 COSMIC
2g.149570106T>GCA429405931MMADHCc.759A>C (p.Gly253=)
c.861A>C (p.Gly287=)
2g.149570106T=CA1297264321MMADHCc.759A= (p.Gly253=)
c.861A= (p.Gly287=)
2g.149570107C>ACA348869276MMADHCc.758G>T (p.Gly253Val)
c.860G>T (p.Gly287Val)
2g.149570107C>GCA348869280MMADHCc.758G>C (p.Gly253Ala)
c.860G>C (p.Gly287Ala)
2g.149570107C>TCA348869278MMADHCc.758G>A (p.Gly253Glu)
c.860G>A (p.Gly287Glu)
2g.149570108C>ACA348869281MMADHCc.757G>T (p.Gly253Ter)
c.859G>T (p.Gly287Ter)
2g.149570108C=CA1297264322MMADHCc.757G= (p.Gly253=)
c.859G= (p.Gly287=)
2g.149570108C>GCA348869283MMADHCc.757G>C (p.Gly253Arg)
c.859G>C (p.Gly287Arg)
 gnomAD v4
2g.149570108C>TCA1902270MMADHCc.757G>A (p.Gly253Arg)
c.859G>A (p.Gly287Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570109T>ACA348869286MMADHCc.756A>T (p.Leu252Phe)
c.858A>T (p.Leu286Phe)
2g.149570109T>CCA429405933MMADHCc.756A>G (p.Leu252=)
c.858A>G (p.Leu286=)
2g.149570109T>GCA1902271MMADHCc.756A>C (p.Leu252Phe)
c.858A>C (p.Leu286Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570109T=CA1297264323MMADHCc.756A= (p.Leu252=)
c.858A= (p.Leu286=)
2g.149570110A=CA1297264324MMADHCc.755T= (p.Leu252=)
c.857T= (p.Leu286=)
2g.149570110A>CCA348869290MMADHCc.755T>G (p.Leu252Ter)
c.857T>G (p.Leu286Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.149570110A>GCA348869291MMADHCc.755T>C (p.Leu252Ser)
c.857T>C (p.Leu286Ser)
2g.149570110A>TCA348869294MMADHCc.755T>A (p.Leu252Ter)
c.857T>A (p.Leu286Ter)
2g.149570111A>CCA348869296MMADHCc.754T>G (p.Leu252Val)
c.856T>G (p.Leu286Val)
2g.149570111A>GCA429405934MMADHCc.754T>C (p.Leu252=)
c.856T>C (p.Leu286=)
2g.149570111A>TCA348869298MMADHCc.754T>A (p.Leu252Ile)
c.856T>A (p.Leu286Ile)
2g.149570112A>CCA348869300MMADHCc.753T>G (p.His251Gln)
c.855T>G (p.His285Gln)
2g.149570112A>GCA429405935MMADHCc.753T>C (p.His251=)
c.855T>C (p.His285=)
 gnomAD v4
2g.149570112A>TCA348869302MMADHCc.753T>A (p.His251Gln)
c.855T>A (p.His285Gln)
2g.149570113T>ACA348869308MMADHCc.752A>T (p.His251Leu)
c.854A>T (p.His285Leu)
2g.149570113T>CCA348869307MMADHCc.752A>G (p.His251Arg)
c.854A>G (p.His285Arg)
 gnomAD v4
2g.149570113T>GCA348869304MMADHCc.752A>C (p.His251Pro)
c.854A>C (p.His285Pro)
2g.149570114G>ACA348869310MMADHCc.751C>T (p.His251Tyr)
c.853C>T (p.His285Tyr)
 COSMIC
2g.149570114G>CCA348869312MMADHCc.751C>G (p.His251Asp)
c.853C>G (p.His285Asp)
2g.149570114G>TCA348869319MMADHCc.751C>A (p.His251Asn)
c.853C>A (p.His285Asn)
2g.149570115T>ACA429405936MMADHCc.750A>T (p.Arg250=)
c.852A>T (p.Arg284=)
2g.149570115T>CCA429405937MMADHCc.750A>G (p.Arg250=)
c.852A>G (p.Arg284=)
2g.149570115T>GCA429405938MMADHCc.750A>C (p.Arg250=)
c.852A>C (p.Arg284=)
2g.149570116C>ACA348869322MMADHCc.749G>T (p.Arg250Leu)
c.851G>T (p.Arg284Leu)
2g.149570116C=CA1297264325MMADHCc.749G= (p.Arg250=)
c.851G= (p.Arg284=)
2g.149570116C>GCA348869324MMADHCc.749G>C (p.Arg250Pro)
c.851G>C (p.Arg284Pro)
2g.149570116C>TCA1902272MMADHCc.749G>A (p.Arg250Gln)
c.851G>A (p.Arg284Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570117G>ACA251599MMADHCc.748C>T (p.Arg250Ter)
c.850C>T (p.Arg284Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.149570117G>CCA348869329MMADHCc.748C>G (p.Arg250Gly)
c.850C>G (p.Arg284Gly)
2g.149570117G=CA1297264326MMADHCc.748C= (p.Arg250=)
c.850C= (p.Arg284=)
2g.149570117G>TCA429405939MMADHCc.748C>A (p.Arg250=)
c.850C>A (p.Arg284=)
2g.149570118G>ACA429405940MMADHCc.747C>T (p.Tyr249=)
c.849C>T (p.Tyr283=)
2g.149570118G>CCA348869331MMADHCc.747C>G (p.Tyr249Ter)
c.849C>G (p.Tyr283Ter)
2g.149570118G>TCA348869333MMADHCc.747C>A (p.Tyr249Ter)
c.849C>A (p.Tyr283Ter)
2g.149570119T>ACA348869336MMADHCc.746A>T (p.Tyr249Phe)
c.848A>T (p.Tyr283Phe)
 gnomAD v4
2g.149570119T>CCA114488MMADHCc.746A>G (p.Tyr249Cys)
c.848A>G (p.Tyr283Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570119T>GCA348869340MMADHCc.746A>C (p.Tyr249Ser)
c.848A>C (p.Tyr283Ser)
2g.149570119T=CA1297264327MMADHCc.746A= (p.Tyr249=)
c.848A= (p.Tyr283=)
2g.149570120A=CA1297264328MMADHCc.745T= (p.Tyr249=)
c.847T= (p.Tyr283=)
2g.149570120A>CCA58332359MMADHCc.745T>G (p.Tyr249Asp)
c.847T>G (p.Tyr283Asp)
 dbSNP gnomAD v4
2g.149570120A>GCA1902273MMADHCc.745T>C (p.Tyr249His)
c.847T>C (p.Tyr283His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570120A>TCA348869342MMADHCc.745T>A (p.Tyr249Asn)
c.847T>A (p.Tyr283Asn)
2g.149570121G>ACA429405941MMADHCc.744C>T (p.Arg248=)
c.846C>T (p.Arg282=)
2g.149570121G>CCA429405942MMADHCc.744C>G (p.Arg248=)
c.846C>G (p.Arg282=)
2g.149570121G>TCA429405943MMADHCc.744C>A (p.Arg248=)
c.846C>A (p.Arg282=)
2g.149570122C>ACA348869348MMADHCc.743G>T (p.Arg248Leu)
c.845G>T (p.Arg282Leu)
2g.149570122C=CA1297264329MMADHCc.743G= (p.Arg248=)
c.845G= (p.Arg282=)
2g.149570122C>GCA348869346MMADHCc.743G>C (p.Arg248Pro)
c.845G>C (p.Arg282Pro)
2g.149570122C>TCA1902274MMADHCc.743G>A (p.Arg248His)
c.845G>A (p.Arg282His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>ACA1902275MMADHCc.742C>T (p.Arg248Cys)
c.844C>T (p.Arg282Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570123G>CCA348869355MMADHCc.742C>G (p.Arg248Gly)
c.844C>G (p.Arg282Gly)
2g.149570123G=CA1297264330MMADHCc.742C= (p.Arg248=)
c.844C= (p.Arg282=)
2g.149570123G>TCA348869352MMADHCc.742C>A (p.Arg248Ser)
c.844C>A (p.Arg282Ser)
2g.149570124T>ACA348869357MMADHCc.741A>T (p.Glu247Asp)
c.843A>T (p.Glu281Asp)
2g.149570124T>CCA1902276MMADHCc.741A>G (p.Glu247=)
c.843A>G (p.Glu281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570124T>GCA348869360MMADHCc.741A>C (p.Glu247Asp)
c.843A>C (p.Glu281Asp)
2g.149570124T=CA1297264331MMADHCc.741A= (p.Glu247=)
c.843A= (p.Glu281=)
2g.149570125T>ACA348869364MMADHCc.740A>T (p.Glu247Val)
c.842A>T (p.Glu281Val)
2g.149570125T>CCA348869366MMADHCc.740A>G (p.Glu247Gly)
c.842A>G (p.Glu281Gly)
2g.149570125T>GCA348869368MMADHCc.740A>C (p.Glu247Ala)
c.842A>C (p.Glu281Ala)
2g.149570126C>ACA348869370MMADHCc.739G>T (p.Glu247Ter)
c.841G>T (p.Glu281Ter)
 ClinVar
2g.149570126C>GCA348869372MMADHCc.739G>C (p.Glu247Gln)
c.841G>C (p.Glu281Gln)
2g.149570126C>TCA348869374MMADHCc.739G>A (p.Glu247Lys)
c.841G>A (p.Glu281Lys)
 gnomAD v4
2g.149570127A>CCA348869378MMADHCc.738T>G (p.Asp246Glu)
c.840T>G (p.Asp280Glu)
2g.149570127A>GCA429405944MMADHCc.738T>C (p.Asp246=)
c.840T>C (p.Asp280=)
2g.149570127A>TCA348869380MMADHCc.738T>A (p.Asp246Glu)
c.840T>A (p.Asp280Glu)

Number of alleles fetched