Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
2 | g.149570039C>A | CA348868940 | MMADHC | c.826G>T (p.Val276Leu) c.928G>T (p.Val310Leu) | gnomAD v4 |
2 | g.149570039C= | CA1297264285 | MMADHC | c.826G= (p.Val276=) c.928G= (p.Val310=) | |
2 | g.149570039C>G | CA348868942 | MMADHC | c.826G>C (p.Val276Leu) c.928G>C (p.Val310Leu) | |
2 | g.149570039C>T | CA348868941 | MMADHC | c.826G>A (p.Val276Ile) c.928G>A (p.Val310Ile) | dbSNP gnomAD v4 |
2 | g.149570040A>C | CA429405885 | MMADHC | c.825T>G (p.Val275=) c.927T>G (p.Val309=) | |
2 | g.149570040A>G | CA429405886 | MMADHC | c.825T>C (p.Val275=) c.927T>C (p.Val309=) | ClinVar |
2 | g.149570040A>T | CA429405888 | MMADHC | c.825T>A (p.Val275=) c.927T>A (p.Val309=) | |
2 | g.149570041_149570044dup | CA2661422180 | MMADHC | c.822_825dup (p.Val276SerfsTer8) c.924_927dup (p.Val310SerfsTer8) | gnomAD v4 |
2 | g.149570041A>C | CA348868944 | MMADHC | c.824T>G (p.Val275Gly) c.926T>G (p.Val309Gly) | gnomAD v4 |
2 | g.149570041A>G | CA348868948 | MMADHC | c.824T>C (p.Val275Ala) c.926T>C (p.Val309Ala) | |
2 | g.149570041A>T | CA348868945 | MMADHC | c.824T>A (p.Val275Asp) c.926T>A (p.Val309Asp) | |
2 | g.149570042del | CA2661422181 | MMADHC | c.823del (p.Val275LeufsTer2) c.925del (p.Val309LeufsTer2) | gnomAD v4 |
2 | g.149570042C>A | CA348868950 | MMADHC | c.823G>T (p.Val275Phe) c.925G>T (p.Val309Phe) | |
2 | g.149570042C>G | CA348868953 | MMADHC | c.823G>C (p.Val275Leu) c.925G>C (p.Val309Leu) | |
2 | g.149570042C>T | CA348868954 | MMADHC | c.823G>A (p.Val275Ile) c.925G>A (p.Val309Ile) | |
2 | g.149570043T>A | CA429405889 | MMADHC | c.822A>T (p.Val274=) c.924A>T (p.Val308=) | |
2 | g.149570043T>C | CA429405890 | MMADHC | c.822A>G (p.Val274=) c.924A>G (p.Val308=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570043T>G | CA429405891 | MMADHC | c.822A>C (p.Val274=) c.924A>C (p.Val308=) | |
2 | g.149570043T= | CA1297264286 | MMADHC | c.822A= (p.Val274=) c.924A= (p.Val308=) | |
2 | g.149570044A>C | CA348868957 | MMADHC | c.821T>G (p.Val274Gly) c.923T>G (p.Val308Gly) | |
2 | g.149570044A>G | CA348868959 | MMADHC | c.821T>C (p.Val274Ala) c.923T>C (p.Val308Ala) | |
2 | g.149570044A>T | CA348868962 | MMADHC | c.821T>A (p.Val274Glu) c.923T>A (p.Val308Glu) | |
2 | g.149570045C>A | CA1902254 | MMADHC | c.820G>T (p.Val274Leu) c.922G>T (p.Val308Leu) | dbSNP ExAC |
2 | g.149570045C= | CA1297264287 | MMADHC | c.820G= (p.Val274=) c.922G= (p.Val308=) | |
2 | g.149570045C>G | CA348868966 | MMADHC | c.820G>C (p.Val274Leu) c.922G>C (p.Val308Leu) | |
2 | g.149570045C>T | CA348868968 | MMADHC | c.820G>A (p.Val274Ile) c.922G>A (p.Val308Ile) | dbSNP |
2 | g.149570046A= | CA1297264288 | MMADHC | c.819T= (p.His273=) c.921T= (p.His307=) | |
2 | g.149570046A>C | CA1902255 | MMADHC | c.819T>G (p.His273Gln) c.921T>G (p.His307Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570046A>G | CA429405892 | MMADHC | c.819T>C (p.His273=) c.921T>C (p.His307=) | ClinVar dbSNP gnomAD v4 |
2 | g.149570046A>T | CA348868971 | MMADHC | c.819T>A (p.His273Gln) c.921T>A (p.His307Gln) | |
2 | g.149570047T>A | CA348868975 | MMADHC | c.818A>T (p.His273Leu) c.920A>T (p.His307Leu) | |
2 | g.149570047T>C | CA348868974 | MMADHC | c.818A>G (p.His273Arg) c.920A>G (p.His307Arg) | gnomAD v4 |
2 | g.149570047T>G | CA348868973 | MMADHC | c.818A>C (p.His273Pro) c.920A>C (p.His307Pro) | |
2 | g.149570048G>A | CA348868994 | MMADHC | c.817C>T (p.His273Tyr) c.919C>T (p.His307Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570048G>C | CA348868995 | MMADHC | c.817C>G (p.His273Asp) c.919C>G (p.His307Asp) | |
2 | g.149570048G= | CA1297264289 | MMADHC | c.817C= (p.His273=) c.919C= (p.His307=) | |
2 | g.149570048G>T | CA348868997 | MMADHC | c.817C>A (p.His273Asn) c.919C>A (p.His307Asn) | |
2 | g.149570049G>A | CA429405893 | MMADHC | c.816C>T (p.Thr272=) c.918C>T (p.Thr306=) | |
2 | g.149570049G>C | CA429405894 | MMADHC | c.816C>G (p.Thr272=) c.918C>G (p.Thr306=) | COSMIC |
2 | g.149570049G>T | CA429405895 | MMADHC | c.816C>A (p.Thr272=) c.918C>A (p.Thr306=) | |
2 | g.149570050G>A | CA348868998 | MMADHC | c.815C>T (p.Thr272Ile) c.917C>T (p.Thr306Ile) | |
2 | g.149570050G>C | CA348869000 | MMADHC | c.815C>G (p.Thr272Ser) c.917C>G (p.Thr306Ser) | |
2 | g.149570050G= | CA1297264290 | MMADHC | c.815C= (p.Thr272=) c.917C= (p.Thr306=) | |
2 | g.149570050G>T | CA1902256 | MMADHC | c.815C>A (p.Thr272Asn) c.917C>A (p.Thr306Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570051T>A | CA348869003 | MMADHC | c.814A>T (p.Thr272Ser) c.916A>T (p.Thr306Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570051T>C | CA348869005 | MMADHC | c.814A>G (p.Thr272Ala) c.916A>G (p.Thr306Ala) | |
2 | g.149570051T>G | CA348869007 | MMADHC | c.814A>C (p.Thr272Pro) c.916A>C (p.Thr306Pro) | |
2 | g.149570051T= | CA1297264291 | MMADHC | c.814A= (p.Thr272=) c.916A= (p.Thr306=) | |
2 | g.149570052A>C | CA429405896 | MMADHC | c.813T>G (p.Gly271=) c.915T>G (p.Gly305=) | |
2 | g.149570052A>G | CA429405897 | MMADHC | c.813T>C (p.Gly271=) c.915T>C (p.Gly305=) | |
2 | g.149570052A>T | CA429405898 | MMADHC | c.813T>A (p.Gly271=) c.915T>A (p.Gly305=) | |
2 | g.149570053C>A | CA348869009 | MMADHC | c.812G>T (p.Gly271Val) c.914G>T (p.Gly305Val) | dbSNP gnomAD v4 |
2 | g.149570053C= | CA1297264292 | MMADHC | c.812G= (p.Gly271=) c.914G= (p.Gly305=) | |
2 | g.149570053C>G | CA348869012 | MMADHC | c.812G>C (p.Gly271Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
2 | g.149570053C>T | CA1902257 | MMADHC | c.812G>A (p.Gly271Asp) c.914G>A (p.Gly305Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570054C>A | CA348869020 | MMADHC | c.811G>T (p.Gly271Cys) c.913G>T (p.Gly305Cys) | dbSNP gnomAD v4 COSMIC |
2 | g.149570054C= | CA1297264293 | MMADHC | c.811G= (p.Gly271=) c.913G= (p.Gly305=) | |
2 | g.149570054C>G | CA348869018 | MMADHC | c.811G>C (p.Gly271Arg) c.913G>C (p.Gly305Arg) | |
2 | g.149570054C>T | CA348869016 | MMADHC | c.811G>A (p.Gly271Ser) c.913G>A (p.Gly305Ser) | |
2 | g.149570055C>A | CA348869022 | MMADHC | c.810G>T (p.Trp270Cys) c.912G>T (p.Trp304Cys) | |
2 | g.149570055C>G | CA348869025 | MMADHC | c.810G>C (p.Trp270Cys) c.912G>C (p.Trp304Cys) | |
2 | g.149570055C>T | CA348869027 | MMADHC | c.810G>A (p.Trp270Ter) c.912G>A (p.Trp304Ter) | |
2 | g.149570055_149570057delinsCCA | CA1297264294 | MMADHC | c.808_810delinsTGG (p.Trp270=) c.910_912delinsTGG (p.Trp304=) | |
2 | g.149570056C>A | CA348869029 | MMADHC | c.809G>T (p.Trp270Leu) c.911G>T (p.Trp304Leu) | |
2 | g.149570056C>G | CA348869031 | MMADHC | c.809G>C (p.Trp270Ser) c.911G>C (p.Trp304Ser) | |
2 | g.149570056C>T | CA348869032 | MMADHC | c.809G>A (p.Trp270Ter) c.911G>A (p.Trp304Ter) | COSMIC |
2 | g.149570056_149570057del | CA1297264295 | MMADHC | c.808_809del (p.Trp270GlyfsTer12) c.910_911del (p.Trp304GlyfsTer12) | dbSNP |
2 | g.149570057A>C | CA348869034 | MMADHC | c.808T>G (p.Trp270Gly) c.910T>G (p.Trp304Gly) | |
2 | g.149570057A>G | CA348869036 | MMADHC | c.808T>C (p.Trp270Arg) c.910T>C (p.Trp304Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.149570057A>T | CA348869038 | MMADHC | c.808T>A (p.Trp270Arg) c.910T>A (p.Trp304Arg) | |
2 | g.149570058G>A | CA429405899 | MMADHC | c.807C>T (p.Leu269=) c.909C>T (p.Leu303=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570058G>C | CA429405900 | MMADHC | c.807C>G (p.Leu269=) c.909C>G (p.Leu303=) | |
2 | g.149570058G= | CA1297264296 | MMADHC | c.807C= (p.Leu269=) c.909C= (p.Leu303=) | |
2 | g.149570058G>T | CA429405901 | MMADHC | c.807C>A (p.Leu269=) c.909C>A (p.Leu303=) | |
2 | g.149570059A= | CA1297264297 | MMADHC | c.806T= (p.Leu269=) c.908T= (p.Leu303=) | |
2 | g.149570059A>C | CA348869039 | MMADHC | c.806T>G (p.Leu269Arg) c.908T>G (p.Leu303Arg) | gnomAD v4 |
2 | g.149570059A>G | CA348869041 | MMADHC | c.806T>C (p.Leu269Pro) c.908T>C (p.Leu303Pro) | dbSNP |
2 | g.149570059A>T | CA348869043 | MMADHC | c.806T>A (p.Leu269His) c.908T>A (p.Leu303His) | |
2 | g.149570060G>A | CA348869047 | MMADHC | c.805C>T (p.Leu269Phe) c.907C>T (p.Leu303Phe) | gnomAD v4 |
2 | g.149570060G>C | CA348869049 | MMADHC | c.805C>G (p.Leu269Val) c.907C>G (p.Leu303Val) | gnomAD v4 |
2 | g.149570060G>T | CA348869045 | MMADHC | c.805C>A (p.Leu269Ile) c.907C>A (p.Leu303Ile) | |
2 | g.149570061A= | CA1297264298 | MMADHC | c.804T= (p.Ser268=) c.906T= (p.Ser302=) | |
2 | g.149570061A>C | CA348869051 | MMADHC | c.804T>G (p.Ser268Arg) c.906T>G (p.Ser302Arg) | dbSNP |
2 | g.149570061A>G | CA429405903 | MMADHC | c.804T>C (p.Ser268=) c.906T>C (p.Ser302=) | |
2 | g.149570061A>T | CA348869053 | MMADHC | c.804T>A (p.Ser268Arg) c.906T>A (p.Ser302Arg) | gnomAD v4 |
2 | g.149570062C>A | CA348869054 | MMADHC | c.803G>T (p.Ser268Ile) c.905G>T (p.Ser302Ile) | |
2 | g.149570062C>G | CA348869056 | MMADHC | c.803G>C (p.Ser268Thr) c.905G>C (p.Ser302Thr) | |
2 | g.149570062C>T | CA348869058 | MMADHC | c.803G>A (p.Ser268Asn) c.905G>A (p.Ser302Asn) | gnomAD v4 |
2 | g.149570063T>A | CA348869064 | MMADHC | c.802A>T (p.Ser268Cys) c.904A>T (p.Ser302Cys) | |
2 | g.149570063T>C | CA348869061 | MMADHC | c.802A>G (p.Ser268Gly) c.904A>G (p.Ser302Gly) | |
2 | g.149570063T>G | CA348869063 | MMADHC | c.802A>C (p.Ser268Arg) c.904A>C (p.Ser302Arg) | dbSNP gnomAD v4 |
2 | g.149570063T= | CA1297264299 | MMADHC | c.802A= (p.Ser268=) c.904A= (p.Ser302=) | |
2 | g.149570064A>C | CA348869068 | MMADHC | c.801T>G (p.His267Gln) c.903T>G (p.His301Gln) | |
2 | g.149570064A>G | CA429405904 | MMADHC | c.801T>C (p.His267=) c.903T>C (p.His301=) | |
2 | g.149570064A>T | CA348869070 | MMADHC | c.801T>A (p.His267Gln) c.903T>A (p.His301Gln) | |
2 | g.149570065T>A | CA348869072 | MMADHC | c.800A>T (p.His267Leu) c.902A>T (p.His301Leu) | |
2 | g.149570065T>C | CA1902258 | MMADHC | c.800A>G (p.His267Arg) c.902A>G (p.His301Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.149570065T>G | CA348869074 | MMADHC | c.800A>C (p.His267Pro) c.902A>C (p.His301Pro) | |
2 | g.149570065T= | CA1297264300 | MMADHC | c.800A= (p.His267=) c.902A= (p.His301=) | |
2 | g.149570066G>A | CA348869077 | MMADHC | c.799C>T (p.His267Tyr) c.901C>T (p.His301Tyr) | |
2 | g.149570066G>C | CA348869081 | MMADHC | c.799C>G (p.His267Asp) c.901C>G (p.His301Asp) | |
2 | g.149570066G>T | CA348869079 | MMADHC | c.799C>A (p.His267Asn) c.901C>A (p.His301Asn) | |
2 | g.149570067A>C | CA429405905 | MMADHC | c.798T>G (p.Arg266=) c.900T>G (p.Arg300=) | |
2 | g.149570067A>G | CA429405907 | MMADHC | c.798T>C (p.Arg266=) c.900T>C (p.Arg300=) | |
2 | g.149570067A>T | CA429405906 | MMADHC | c.798T>A (p.Arg266=) c.900T>A (p.Arg300=) | |
2 | g.149570068C>A | CA1902259 | MMADHC | c.797G>T (p.Arg266Leu) c.899G>T (p.Arg300Leu) | dbSNP ExAC gnomAD v4 |
2 | g.149570068C= | CA1297264301 | MMADHC | c.797G= (p.Arg266=) c.899G= (p.Arg300=) | |
2 | g.149570068C>G | CA348869086 | MMADHC | c.797G>C (p.Arg266Pro) c.899G>C (p.Arg300Pro) | |
2 | g.149570068C>T | CA1902260 | MMADHC | c.797G>A (p.Arg266His) c.899G>A (p.Arg300His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570069G>A | CA348869088 | MMADHC | c.796C>T (p.Arg266Cys) c.898C>T (p.Arg300Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570069G>C | CA348869093 | MMADHC | c.796C>G (p.Arg266Gly) c.898C>G (p.Arg300Gly) | gnomAD v4 |
2 | g.149570069G= | CA1297264302 | MMADHC | c.796C= (p.Arg266=) c.898C= (p.Arg300=) | |
2 | g.149570069G>T | CA348869090 | MMADHC | c.796C>A (p.Arg266Ser) c.898C>A (p.Arg300Ser) | |
2 | g.149570070A= | CA1297264303 | MMADHC | c.795T= (p.Ile265=) c.897T= (p.Ile299=) | |
2 | g.149570070A>C | CA348869095 | MMADHC | c.795T>G (p.Ile265Met) c.897T>G (p.Ile299Met) | |
2 | g.149570070A>G | CA429405908 | MMADHC | c.795T>C (p.Ile265=) c.897T>C (p.Ile299=) | ClinVar dbSNP |
2 | g.149570070A>T | CA429405909 | MMADHC | c.795T>A (p.Ile265=) c.897T>A (p.Ile299=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570070_149570071insTA | CA2661422182 | MMADHC | c.795_796insAT (p.Arg266IlefsTer10) c.897_898insAT (p.Arg300IlefsTer10) | gnomAD v4 |
2 | g.149570071A>C | CA348869097 | MMADHC | c.794T>G (p.Ile265Ser) c.896T>G (p.Ile299Ser) | |
2 | g.149570071A>G | CA348869099 | MMADHC | c.794T>C (p.Ile265Thr) c.896T>C (p.Ile299Thr) | |
2 | g.149570071A>T | CA348869100 | MMADHC | c.794T>A (p.Ile265Asn) c.896T>A (p.Ile299Asn) | |
2 | g.149570072T>A | CA348869102 | MMADHC | c.793A>T (p.Ile265Phe) c.895A>T (p.Ile299Phe) | |
2 | g.149570072T>C | CA348869104 | MMADHC | c.793A>G (p.Ile265Val) c.895A>G (p.Ile299Val) | |
2 | g.149570072T>G | CA348869106 | MMADHC | c.793A>C (p.Ile265Leu) c.895A>C (p.Ile299Leu) | gnomAD v4 |
2 | g.149570073C>A | CA429405910 | MMADHC | c.792G>T (p.Val264=) c.894G>T (p.Val298=) | |
2 | g.149570073C>G | CA429405912 | MMADHC | c.792G>C (p.Val264=) c.894G>C (p.Val298=) | |
2 | g.149570073C>T | CA429405911 | MMADHC | c.792G>A (p.Val264=) c.894G>A (p.Val298=) | gnomAD v4 |
2 | g.149570074A>C | CA348869108 | MMADHC | c.791T>G (p.Val264Gly) c.893T>G (p.Val298Gly) | |
2 | g.149570074A>G | CA348869110 | MMADHC | c.791T>C (p.Val264Ala) c.893T>C (p.Val298Ala) | |
2 | g.149570074A>T | CA348869111 | MMADHC | c.791T>A (p.Val264Glu) c.893T>A (p.Val298Glu) | |
2 | g.149570075C>A | CA348869119 | MMADHC | c.790G>T (p.Val264Leu) c.892G>T (p.Val298Leu) | dbSNP |
2 | g.149570075C= | CA1297264304 | MMADHC | c.790G= (p.Val264=) c.892G= (p.Val298=) | |
2 | g.149570075C>G | CA348869115 | MMADHC | c.790G>C (p.Val264Leu) c.892G>C (p.Val298Leu) | |
2 | g.149570075C>T | CA348869117 | MMADHC | c.790G>A (p.Val264Met) c.892G>A (p.Val298Met) | |
2 | g.149570076T>A | CA348869122 | MMADHC | c.789A>T (p.Lys263Asn) c.891A>T (p.Lys297Asn) | |
2 | g.149570076T>C | CA429405913 | MMADHC | c.789A>G (p.Lys263=) c.891A>G (p.Lys297=) | |
2 | g.149570076T>G | CA348869124 | MMADHC | c.789A>C (p.Lys263Asn) c.891A>C (p.Lys297Asn) | |
2 | g.149570077T>A | CA348869127 | MMADHC | c.788A>T (p.Lys263Ile) c.890A>T (p.Lys297Ile) | |
2 | g.149570077T>C | CA348869129 | MMADHC | c.788A>G (p.Lys263Arg) c.890A>G (p.Lys297Arg) | |
2 | g.149570077T>G | CA348869131 | MMADHC | c.788A>C (p.Lys263Thr) c.890A>C (p.Lys297Thr) | |
2 | g.149570078T>A | CA348869134 | MMADHC | c.787A>T (p.Lys263Ter) c.889A>T (p.Lys297Ter) | ClinVar |
2 | g.149570078T>C | CA1902261 | MMADHC | c.787A>G (p.Lys263Glu) c.889A>G (p.Lys297Glu) | dbSNP ExAC gnomAD v2 |
2 | g.149570078T>G | CA348869137 | MMADHC | c.787A>C (p.Lys263Gln) c.889A>C (p.Lys297Gln) | |
2 | g.149570078T= | CA1297264305 | MMADHC | c.787A= (p.Lys263=) c.889A= (p.Lys297=) | |
2 | g.149570079A= | CA1297264306 | MMADHC | c.786T= (p.Cys262=) c.888T= (p.Cys296=) | |
2 | g.149570079A>C | CA348869139 | MMADHC | c.786T>G (p.Cys262Trp) c.888T>G (p.Cys296Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570079A>G | CA429405914 | MMADHC | c.786T>C (p.Cys262=) c.888T>C (p.Cys296=) | |
2 | g.149570079A>T | CA348869141 | MMADHC | c.786T>A (p.Cys262Ter) c.888T>A (p.Cys296Ter) | |
2 | g.149570080C>A | CA348869147 | MMADHC | c.785G>T (p.Cys262Phe) c.887G>T (p.Cys296Phe) | |
2 | g.149570080C= | CA1297264307 | MMADHC | c.785G= (p.Cys262=) c.887G= (p.Cys296=) | |
2 | g.149570080C>G | CA348869150 | MMADHC | c.785G>C (p.Cys262Ser) c.887G>C (p.Cys296Ser) | |
2 | g.149570080C>T | CA1902262 | MMADHC | c.785G>A (p.Cys262Tyr) c.887G>A (p.Cys296Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570081A>C | CA348869152 | MMADHC | c.784T>G (p.Cys262Gly) c.886T>G (p.Cys296Gly) | |
2 | g.149570081A>G | CA348869155 | MMADHC | c.784T>C (p.Cys262Arg) c.886T>C (p.Cys296Arg) | |
2 | g.149570081A>T | CA348869157 | MMADHC | c.784T>A (p.Cys262Ser) c.886T>A (p.Cys296Ser) | |
2 | g.149570082G>A | CA429405915 | MMADHC | c.783C>T (p.Cys261=) c.885C>T (p.Cys295=) | |
2 | g.149570082G>C | CA348869160 | MMADHC | c.783C>G (p.Cys261Trp) c.885C>G (p.Cys295Trp) | |
2 | g.149570082G>T | CA348869161 | MMADHC | c.783C>A (p.Cys261Ter) c.885C>A (p.Cys295Ter) | |
2 | g.149570083C>A | CA348869165 | MMADHC | c.782G>T (p.Cys261Phe) c.884G>T (p.Cys295Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570083C= | CA1297264308 | MMADHC | c.782G= (p.Cys261=) c.884G= (p.Cys295=) | |
2 | g.149570083C>G | CA348869166 | MMADHC | c.782G>C (p.Cys261Ser) c.884G>C (p.Cys295Ser) | |
2 | g.149570083C>T | CA348869168 | MMADHC | c.782G>A (p.Cys261Tyr) c.884G>A (p.Cys295Tyr) | |
2 | g.149570084A= | CA1297264309 | MMADHC | c.781T= (p.Cys261=) c.883T= (p.Cys295=) | |
2 | g.149570084A>C | CA348869170 | MMADHC | c.781T>G (p.Cys261Gly) c.883T>G (p.Cys295Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570084A>G | CA348869171 | MMADHC | c.781T>C (p.Cys261Arg) c.883T>C (p.Cys295Arg) | |
2 | g.149570084A>T | CA348869173 | MMADHC | c.781T>A (p.Cys261Ser) c.883T>A (p.Cys295Ser) | |
2 | g.149570085T>A | CA429405916 | MMADHC | c.780A>T (p.Gly260=) c.882A>T (p.Gly294=) | dbSNP |
2 | g.149570085T>C | CA429405917 | MMADHC | c.780A>G (p.Gly260=) c.882A>G (p.Gly294=) | |
2 | g.149570085T>G | CA429405918 | MMADHC | c.780A>C (p.Gly260=) c.882A>C (p.Gly294=) | |
2 | g.149570085T= | CA1297264310 | MMADHC | c.780A= (p.Gly260=) c.882A= (p.Gly294=) | |
2 | g.149570086C>A | CA348869178 | MMADHC | c.779G>T (p.Gly260Val) c.881G>T (p.Gly294Val) | |
2 | g.149570086C>G | CA348869180 | MMADHC | c.779G>C (p.Gly260Ala) c.881G>C (p.Gly294Ala) | |
2 | g.149570086C>T | CA348869175 | MMADHC | c.779G>A (p.Gly260Glu) c.881G>A (p.Gly294Glu) | |
2 | g.149570087C>A | CA348869182 | MMADHC | c.778G>T (p.Gly260Ter) c.880G>T (p.Gly294Ter) | |
2 | g.149570087C>G | CA348869184 | MMADHC | c.778G>C (p.Gly260Arg) c.880G>C (p.Gly294Arg) | COSMIC |
2 | g.149570087C>T | CA348869186 | MMADHC | c.778G>A (p.Gly260Arg) c.880G>A (p.Gly294Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570088A>C | CA429405919 | MMADHC | c.777T>G (p.Leu259=) c.879T>G (p.Leu293=) | |
2 | g.149570088A>G | CA429405920 | MMADHC | c.777T>C (p.Leu259=) c.879T>C (p.Leu293=) | |
2 | g.149570088A>T | CA429405921 | MMADHC | c.777T>A (p.Leu259=) c.879T>A (p.Leu293=) | |
2 | g.149570089A= | CA1297264311 | MMADHC | c.776T= (p.Leu259=) c.878T= (p.Leu293=) | |
2 | g.149570089A>C | CA348869189 | MMADHC | c.776T>G (p.Leu259Arg) c.878T>G (p.Leu293Arg) | |
2 | g.149570089A>G | CA114486 | MMADHC | c.776T>C (p.Leu259Pro) c.878T>C (p.Leu293Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570089A>T | CA348869193 | MMADHC | c.776T>A (p.Leu259His) c.878T>A (p.Leu293His) | |
2 | g.149570090G>A | CA1902263 | MMADHC | c.775C>T (p.Leu259Phe) c.877C>T (p.Leu293Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570090G>C | CA1902264 | MMADHC | c.775C>G (p.Leu259Val) c.877C>G (p.Leu293Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.149570090G= | CA1297264312 | MMADHC | c.775C= (p.Leu259=) c.877C= (p.Leu293=) | |
2 | g.149570090G>T | CA348869197 | MMADHC | c.775C>A (p.Leu259Ile) c.877C>A (p.Leu293Ile) | |
2 | g.149570091G>A | CA429405922 | MMADHC | c.774C>T (p.Asp258=) c.876C>T (p.Asp292=) | |
2 | g.149570091G>C | CA348869201 | MMADHC | c.774C>G (p.Asp258Glu) c.876C>G (p.Asp292Glu) | |
2 | g.149570091G= | CA1297264313 | MMADHC | c.774C= (p.Asp258=) c.876C= (p.Asp292=) | |
2 | g.149570091G>T | CA58332357 | MMADHC | c.774C>A (p.Asp258Glu) c.876C>A (p.Asp292Glu) | dbSNP |
2 | g.149570091_149570106del | CA2752638764 | MMADHC | c.759_774del (p.Phe254LeufsTer6) c.861_876del (p.Phe288LeufsTer6) | |
2 | g.149570092T>A | CA348869205 | MMADHC | c.773A>T (p.Asp258Val) c.875A>T (p.Asp292Val) | |
2 | g.149570092T>C | CA348869207 | MMADHC | c.773A>G (p.Asp258Gly) c.875A>G (p.Asp292Gly) | |
2 | g.149570092T>G | CA348869210 | MMADHC | c.773A>C (p.Asp258Ala) c.875A>C (p.Asp292Ala) | |
2 | g.149570093C>A | CA348869213 | MMADHC | c.772G>T (p.Asp258Tyr) c.874G>T (p.Asp292Tyr) | |
2 | g.149570093C>G | CA348869216 | MMADHC | c.772G>C (p.Asp258His) c.874G>C (p.Asp292His) | |
2 | g.149570093C>T | CA348869212 | MMADHC | c.772G>A (p.Asp258Asn) c.874G>A (p.Asp292Asn) | |
2 | g.149570094A>C | CA348869218 | MMADHC | c.771T>G (p.Asp257Glu) c.873T>G (p.Asp291Glu) | |
2 | g.149570094A>G | CA429405923 | MMADHC | c.771T>C (p.Asp257=) c.873T>C (p.Asp291=) | |
2 | g.149570094A>T | CA348869220 | MMADHC | c.771T>A (p.Asp257Glu) c.873T>A (p.Asp291Glu) | |
2 | g.149570095T>A | CA348869222 | MMADHC | c.770A>T (p.Asp257Val) c.872A>T (p.Asp291Val) | |
2 | g.149570095T>C | CA348869224 | MMADHC | c.770A>G (p.Asp257Gly) c.872A>G (p.Asp291Gly) | gnomAD v4 |
2 | g.149570095T>G | CA348869227 | MMADHC | c.770A>C (p.Asp257Ala) c.872A>C (p.Asp291Ala) | |
2 | g.149570096C>A | CA1902265 | MMADHC | c.769G>T (p.Asp257Tyr) c.871G>T (p.Asp291Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570096C= | CA1297264314 | MMADHC | c.769G= (p.Asp257=) c.871G= (p.Asp291=) | |
2 | g.149570096C>G | CA58332358 | MMADHC | c.769G>C (p.Asp257His) c.871G>C (p.Asp291His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570096C>T | CA348869229 | MMADHC | c.769G>A (p.Asp257Asn) c.871G>A (p.Asp291Asn) | |
2 | g.149570097A>C | CA429405924 | MMADHC | c.768T>G (p.Val256=) c.870T>G (p.Val290=) | |
2 | g.149570097A>G | CA429405925 | MMADHC | c.768T>C (p.Val256=) c.870T>C (p.Val290=) | |
2 | g.149570097A>T | CA429405926 | MMADHC | c.768T>A (p.Val256=) c.870T>A (p.Val290=) | |
2 | g.149570098A= | CA1297264315 | MMADHC | c.767T= (p.Val256=) c.869T= (p.Val290=) | |
2 | g.149570098A>C | CA348869233 | MMADHC | c.767T>G (p.Val256Gly) c.869T>G (p.Val290Gly) | |
2 | g.149570098A>G | CA348869235 | MMADHC | c.767T>C (p.Val256Ala) c.869T>C (p.Val290Ala) | dbSNP |
2 | g.149570098A>T | CA348869237 | MMADHC | c.767T>A (p.Val256Asp) c.869T>A (p.Val290Asp) | |
2 | g.149570099C>A | CA348869239 | MMADHC | c.766G>T (p.Val256Phe) c.868G>T (p.Val290Phe) | |
2 | g.149570099C= | CA1297264316 | MMADHC | c.766G= (p.Val256=) c.868G= (p.Val290=) | |
2 | g.149570099C>G | CA348869241 | MMADHC | c.766G>C (p.Val256Leu) c.868G>C (p.Val290Leu) | ClinVar gnomAD v4 |
2 | g.149570099C>T | CA1902266 | MMADHC | c.766G>A (p.Val256Ile) c.868G>A (p.Val290Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570100A= | CA1297264317 | MMADHC | c.765T= (p.Ser255=) c.867T= (p.Ser289=) | |
2 | g.149570100A>C | CA429405927 | MMADHC | c.765T>G (p.Ser255=) c.867T>G (p.Ser289=) | |
2 | g.149570100A>G | CA1902267 | MMADHC | c.765T>C (p.Ser255=) c.867T>C (p.Ser289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570100A>T | CA429405928 | MMADHC | c.765T>A (p.Ser255=) c.867T>A (p.Ser289=) | |
2 | g.149570103_149570104del | CA2580611694 | MMADHC | c.764_765del (p.Ser255CysfsTer2) c.866_867del (p.Ser289CysfsTer2) | ClinVar dbSNP |
2 | g.149570101G>A | CA348869246 | MMADHC | c.764C>T (p.Ser255Phe) c.866C>T (p.Ser289Phe) | |
2 | g.149570101G>C | CA1902268 | MMADHC | c.764C>G (p.Ser255Cys) c.866C>G (p.Ser289Cys) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.149570101G= | CA1297264318 | MMADHC | c.764C= (p.Ser255=) c.866C= (p.Ser289=) | |
2 | g.149570101G>T | CA348869248 | MMADHC | c.764C>A (p.Ser255Tyr) c.866C>A (p.Ser289Tyr) | |
2 | g.149570102A>C | CA348869251 | MMADHC | c.763T>G (p.Ser255Ala) c.865T>G (p.Ser289Ala) | |
2 | g.149570102A>G | CA348869252 | MMADHC | c.763T>C (p.Ser255Pro) c.865T>C (p.Ser289Pro) | |
2 | g.149570102A>T | CA348869255 | MMADHC | c.763T>A (p.Ser255Thr) c.865T>A (p.Ser289Thr) | |
2 | g.149570103G>A | CA429405929 | MMADHC | c.762C>T (p.Phe254=) c.864C>T (p.Phe288=) | |
2 | g.149570103G>C | CA348869257 | MMADHC | c.762C>G (p.Phe254Leu) c.864C>G (p.Phe288Leu) | gnomAD v4 |
2 | g.149570103G= | CA1297264319 | MMADHC | c.762C= (p.Phe254=) c.864C= (p.Phe288=) | |
2 | g.149570103G>T | CA1902269 | MMADHC | c.762C>A (p.Phe254Leu) c.864C>A (p.Phe288Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570104A= | CA1297264320 | MMADHC | c.761T= (p.Phe254=) c.863T= (p.Phe288=) | |
2 | g.149570104A>C | CA348869261 | MMADHC | c.761T>G (p.Phe254Cys) c.863T>G (p.Phe288Cys) | dbSNP gnomAD v4 |
2 | g.149570104A>G | CA348869263 | MMADHC | c.761T>C (p.Phe254Ser) c.863T>C (p.Phe288Ser) | |
2 | g.149570104A>T | CA348869266 | MMADHC | c.761T>A (p.Phe254Tyr) c.863T>A (p.Phe288Tyr) | gnomAD v4 |
2 | g.149570105A>C | CA348869268 | MMADHC | c.760T>G (p.Phe254Val) c.862T>G (p.Phe288Val) | |
2 | g.149570105A>G | CA348869270 | MMADHC | c.760T>C (p.Phe254Leu) c.862T>C (p.Phe288Leu) | |
2 | g.149570105A>T | CA348869273 | MMADHC | c.760T>A (p.Phe254Ile) c.862T>A (p.Phe288Ile) | |
2 | g.149570106T>A | CA10611311 | MMADHC | c.759A>T (p.Gly253=) c.861A>T (p.Gly287=) | ClinVar dbSNP gnomAD v2 |
2 | g.149570106T>C | CA429405930 | MMADHC | c.759A>G (p.Gly253=) c.861A>G (p.Gly287=) | COSMIC |
2 | g.149570106T>G | CA429405931 | MMADHC | c.759A>C (p.Gly253=) c.861A>C (p.Gly287=) | |
2 | g.149570106T= | CA1297264321 | MMADHC | c.759A= (p.Gly253=) c.861A= (p.Gly287=) | |
2 | g.149570107C>A | CA348869276 | MMADHC | c.758G>T (p.Gly253Val) c.860G>T (p.Gly287Val) | |
2 | g.149570107C>G | CA348869280 | MMADHC | c.758G>C (p.Gly253Ala) c.860G>C (p.Gly287Ala) | |
2 | g.149570107C>T | CA348869278 | MMADHC | c.758G>A (p.Gly253Glu) c.860G>A (p.Gly287Glu) | |
2 | g.149570108C>A | CA348869281 | MMADHC | c.757G>T (p.Gly253Ter) c.859G>T (p.Gly287Ter) | |
2 | g.149570108C= | CA1297264322 | MMADHC | c.757G= (p.Gly253=) c.859G= (p.Gly287=) | |
2 | g.149570108C>G | CA348869283 | MMADHC | c.757G>C (p.Gly253Arg) c.859G>C (p.Gly287Arg) | gnomAD v4 |
2 | g.149570108C>T | CA1902270 | MMADHC | c.757G>A (p.Gly253Arg) c.859G>A (p.Gly287Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T>A | CA348869286 | MMADHC | c.756A>T (p.Leu252Phe) c.858A>T (p.Leu286Phe) | |
2 | g.149570109T>C | CA429405933 | MMADHC | c.756A>G (p.Leu252=) c.858A>G (p.Leu286=) | |
2 | g.149570109T>G | CA1902271 | MMADHC | c.756A>C (p.Leu252Phe) c.858A>C (p.Leu286Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570109T= | CA1297264323 | MMADHC | c.756A= (p.Leu252=) c.858A= (p.Leu286=) | |
2 | g.149570110A= | CA1297264324 | MMADHC | c.755T= (p.Leu252=) c.857T= (p.Leu286=) | |
2 | g.149570110A>C | CA348869290 | MMADHC | c.755T>G (p.Leu252Ter) c.857T>G (p.Leu286Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570110A>G | CA348869291 | MMADHC | c.755T>C (p.Leu252Ser) c.857T>C (p.Leu286Ser) | |
2 | g.149570110A>T | CA348869294 | MMADHC | c.755T>A (p.Leu252Ter) c.857T>A (p.Leu286Ter) | |
2 | g.149570111A>C | CA348869296 | MMADHC | c.754T>G (p.Leu252Val) c.856T>G (p.Leu286Val) | |
2 | g.149570111A>G | CA429405934 | MMADHC | c.754T>C (p.Leu252=) c.856T>C (p.Leu286=) | |
2 | g.149570111A>T | CA348869298 | MMADHC | c.754T>A (p.Leu252Ile) c.856T>A (p.Leu286Ile) | |
2 | g.149570112A>C | CA348869300 | MMADHC | c.753T>G (p.His251Gln) c.855T>G (p.His285Gln) | |
2 | g.149570112A>G | CA429405935 | MMADHC | c.753T>C (p.His251=) c.855T>C (p.His285=) | gnomAD v4 |
2 | g.149570112A>T | CA348869302 | MMADHC | c.753T>A (p.His251Gln) c.855T>A (p.His285Gln) | |
2 | g.149570113T>A | CA348869308 | MMADHC | c.752A>T (p.His251Leu) c.854A>T (p.His285Leu) | |
2 | g.149570113T>C | CA348869307 | MMADHC | c.752A>G (p.His251Arg) c.854A>G (p.His285Arg) | gnomAD v4 |
2 | g.149570113T>G | CA348869304 | MMADHC | c.752A>C (p.His251Pro) c.854A>C (p.His285Pro) | |
2 | g.149570114G>A | CA348869310 | MMADHC | c.751C>T (p.His251Tyr) c.853C>T (p.His285Tyr) | COSMIC |
2 | g.149570114G>C | CA348869312 | MMADHC | c.751C>G (p.His251Asp) c.853C>G (p.His285Asp) | |
2 | g.149570114G>T | CA348869319 | MMADHC | c.751C>A (p.His251Asn) c.853C>A (p.His285Asn) | |
2 | g.149570115T>A | CA429405936 | MMADHC | c.750A>T (p.Arg250=) c.852A>T (p.Arg284=) | |
2 | g.149570115T>C | CA429405937 | MMADHC | c.750A>G (p.Arg250=) c.852A>G (p.Arg284=) | |
2 | g.149570115T>G | CA429405938 | MMADHC | c.750A>C (p.Arg250=) c.852A>C (p.Arg284=) | |
2 | g.149570116C>A | CA348869322 | MMADHC | c.749G>T (p.Arg250Leu) c.851G>T (p.Arg284Leu) | |
2 | g.149570116C= | CA1297264325 | MMADHC | c.749G= (p.Arg250=) c.851G= (p.Arg284=) | |
2 | g.149570116C>G | CA348869324 | MMADHC | c.749G>C (p.Arg250Pro) c.851G>C (p.Arg284Pro) | |
2 | g.149570116C>T | CA1902272 | MMADHC | c.749G>A (p.Arg250Gln) c.851G>A (p.Arg284Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570117G>A | CA251599 | MMADHC | c.748C>T (p.Arg250Ter) c.850C>T (p.Arg284Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570117G>C | CA348869329 | MMADHC | c.748C>G (p.Arg250Gly) c.850C>G (p.Arg284Gly) | |
2 | g.149570117G= | CA1297264326 | MMADHC | c.748C= (p.Arg250=) c.850C= (p.Arg284=) | |
2 | g.149570117G>T | CA429405939 | MMADHC | c.748C>A (p.Arg250=) c.850C>A (p.Arg284=) | |
2 | g.149570118G>A | CA429405940 | MMADHC | c.747C>T (p.Tyr249=) c.849C>T (p.Tyr283=) | |
2 | g.149570118G>C | CA348869331 | MMADHC | c.747C>G (p.Tyr249Ter) c.849C>G (p.Tyr283Ter) | |
2 | g.149570118G>T | CA348869333 | MMADHC | c.747C>A (p.Tyr249Ter) c.849C>A (p.Tyr283Ter) | |
2 | g.149570119T>A | CA348869336 | MMADHC | c.746A>T (p.Tyr249Phe) c.848A>T (p.Tyr283Phe) | gnomAD v4 |
2 | g.149570119T>C | CA114488 | MMADHC | c.746A>G (p.Tyr249Cys) c.848A>G (p.Tyr283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570119T>G | CA348869340 | MMADHC | c.746A>C (p.Tyr249Ser) c.848A>C (p.Tyr283Ser) | |
2 | g.149570119T= | CA1297264327 | MMADHC | c.746A= (p.Tyr249=) c.848A= (p.Tyr283=) | |
2 | g.149570120A= | CA1297264328 | MMADHC | c.745T= (p.Tyr249=) c.847T= (p.Tyr283=) | |
2 | g.149570120A>C | CA58332359 | MMADHC | c.745T>G (p.Tyr249Asp) c.847T>G (p.Tyr283Asp) | dbSNP gnomAD v4 |
2 | g.149570120A>G | CA1902273 | MMADHC | c.745T>C (p.Tyr249His) c.847T>C (p.Tyr283His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570120A>T | CA348869342 | MMADHC | c.745T>A (p.Tyr249Asn) c.847T>A (p.Tyr283Asn) | |
2 | g.149570121G>A | CA429405941 | MMADHC | c.744C>T (p.Arg248=) c.846C>T (p.Arg282=) | |
2 | g.149570121G>C | CA429405942 | MMADHC | c.744C>G (p.Arg248=) c.846C>G (p.Arg282=) | |
2 | g.149570121G>T | CA429405943 | MMADHC | c.744C>A (p.Arg248=) c.846C>A (p.Arg282=) | |
2 | g.149570122C>A | CA348869348 | MMADHC | c.743G>T (p.Arg248Leu) c.845G>T (p.Arg282Leu) | |
2 | g.149570122C= | CA1297264329 | MMADHC | c.743G= (p.Arg248=) c.845G= (p.Arg282=) | |
2 | g.149570122C>G | CA348869346 | MMADHC | c.743G>C (p.Arg248Pro) c.845G>C (p.Arg282Pro) | |
2 | g.149570122C>T | CA1902274 | MMADHC | c.743G>A (p.Arg248His) c.845G>A (p.Arg282His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>A | CA1902275 | MMADHC | c.742C>T (p.Arg248Cys) c.844C>T (p.Arg282Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570123G>C | CA348869355 | MMADHC | c.742C>G (p.Arg248Gly) c.844C>G (p.Arg282Gly) | |
2 | g.149570123G= | CA1297264330 | MMADHC | c.742C= (p.Arg248=) c.844C= (p.Arg282=) | |
2 | g.149570123G>T | CA348869352 | MMADHC | c.742C>A (p.Arg248Ser) c.844C>A (p.Arg282Ser) | |
2 | g.149570124T>A | CA348869357 | MMADHC | c.741A>T (p.Glu247Asp) c.843A>T (p.Glu281Asp) | |
2 | g.149570124T>C | CA1902276 | MMADHC | c.741A>G (p.Glu247=) c.843A>G (p.Glu281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570124T>G | CA348869360 | MMADHC | c.741A>C (p.Glu247Asp) c.843A>C (p.Glu281Asp) | |
2 | g.149570124T= | CA1297264331 | MMADHC | c.741A= (p.Glu247=) c.843A= (p.Glu281=) | |
2 | g.149570125T>A | CA348869364 | MMADHC | c.740A>T (p.Glu247Val) c.842A>T (p.Glu281Val) | |
2 | g.149570125T>C | CA348869366 | MMADHC | c.740A>G (p.Glu247Gly) c.842A>G (p.Glu281Gly) | |
2 | g.149570125T>G | CA348869368 | MMADHC | c.740A>C (p.Glu247Ala) c.842A>C (p.Glu281Ala) | |
2 | g.149570126C>A | CA348869370 | MMADHC | c.739G>T (p.Glu247Ter) c.841G>T (p.Glu281Ter) | ClinVar |
2 | g.149570126C>G | CA348869372 | MMADHC | c.739G>C (p.Glu247Gln) c.841G>C (p.Glu281Gln) | |
2 | g.149570126C>T | CA348869374 | MMADHC | c.739G>A (p.Glu247Lys) c.841G>A (p.Glu281Lys) | gnomAD v4 |
2 | g.149570127A>C | CA348869378 | MMADHC | c.738T>G (p.Asp246Glu) c.840T>G (p.Asp280Glu) | |
2 | g.149570127A>G | CA429405944 | MMADHC | c.738T>C (p.Asp246=) c.840T>C (p.Asp280=) | |
2 | g.149570127A>T | CA348869380 | MMADHC | c.738T>A (p.Asp246Glu) c.840T>A (p.Asp280Glu) | |
2 | g.149570128T>A | CA348869382 | MMADHC | c.737A>T (p.Asp246Val) c.839A>T (p.Asp280Val) | dbSNP |
2 | g.149570128T>C | CA348869383 | MMADHC | c.737A>G (p.Asp246Gly) c.839A>G (p.Asp280Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570128T>G | CA348869384 | MMADHC | c.737A>C (p.Asp246Ala) c.839A>C (p.Asp280Ala) | |
2 | g.149570128T= | CA1297264332 | MMADHC | c.737A= (p.Asp246=) c.839A= (p.Asp280=) | |
2 | g.149570129C>A | CA348869385 | MMADHC | c.736G>T (p.Asp246Tyr) c.838G>T (p.Asp280Tyr) | |
2 | g.149570129C= | CA1297264333 | MMADHC | c.736G= (p.Asp246=) c.838G= (p.Asp280=) | |
2 | g.149570129C>G | CA348869386 | MMADHC | c.736G>C (p.Asp246His) c.838G>C (p.Asp280His) | |
2 | g.149570129C>T | CA1902277 | MMADHC | c.736G>A (p.Asp246Asn) c.838G>A (p.Asp280Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A= | CA1297264334 | MMADHC | c.735T= (p.Thr245=) c.837T= (p.Thr279=) | |
2 | g.149570130A>C | CA1902278 | MMADHC | c.735T>G (p.Thr245=) c.837T>G (p.Thr279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570130A>G | CA429405946 | MMADHC | c.735T>C (p.Thr245=) c.837T>C (p.Thr279=) | |
2 | g.149570130A>T | CA429405945 | MMADHC | c.735T>A (p.Thr245=) c.837T>A (p.Thr279=) | |
2 | g.149570131G>A | CA348869387 | MMADHC | c.734C>T (p.Thr245Ile) c.836C>T (p.Thr279Ile) | |
2 | g.149570131G>C | CA348869388 | MMADHC | c.734C>G (p.Thr245Ser) c.836C>G (p.Thr279Ser) | gnomAD v4 |
2 | g.149570131G>T | CA348869389 | MMADHC | c.734C>A (p.Thr245Asn) c.836C>A (p.Thr279Asn) | |
2 | g.149570132T>A | CA348869390 | MMADHC | c.733A>T (p.Thr245Ser) c.835A>T (p.Thr279Ser) | |
2 | g.149570132T>C | CA348869391 | MMADHC | c.733A>G (p.Thr245Ala) c.835A>G (p.Thr279Ala) | |
2 | g.149570132T>G | CA348869392 | MMADHC | c.733A>C (p.Thr245Pro) c.835A>C (p.Thr279Pro) | |
2 | g.149570133T>A | CA348869393 | MMADHC | c.732A>T (p.Glu244Asp) c.834A>T (p.Glu278Asp) | |
2 | g.149570133T>C | CA429405947 | MMADHC | c.732A>G (p.Glu244=) c.834A>G (p.Glu278=) | |
2 | g.149570133T>G | CA348869394 | MMADHC | c.732A>C (p.Glu244Asp) c.834A>C (p.Glu278Asp) | |
2 | g.149570134T>A | CA348869396 | MMADHC | c.731A>T (p.Glu244Val) c.833A>T (p.Glu278Val) | |
2 | g.149570134T>C | CA348869397 | MMADHC | c.731A>G (p.Glu244Gly) c.833A>G (p.Glu278Gly) | |
2 | g.149570134T>G | CA348869395 | MMADHC | c.731A>C (p.Glu244Ala) c.833A>C (p.Glu278Ala) | |
2 | g.149570135C>A | CA348869398 | MMADHC | c.730G>T (p.Glu244Ter) c.832G>T (p.Glu278Ter) | |
2 | g.149570135C= | CA1297264335 | MMADHC | c.730G= (p.Glu244=) c.832G= (p.Glu278=) | |
2 | g.149570135C>G | CA348869399 | MMADHC | c.730G>C (p.Glu244Gln) c.832G>C (p.Glu278Gln) | dbSNP |
2 | g.149570135C>T | CA348869400 | MMADHC | c.730G>A (p.Glu244Lys) c.832G>A (p.Glu278Lys) | |
2 | g.149570135_149570137delinsCAA | CA1297264336 | MMADHC | c.728_730delinsTTG (p.Phe243=) c.830_832delinsTTG (p.Phe277=) | |
2 | g.149570136A>C | CA348869401 | MMADHC | c.729T>G (p.Phe243Leu) c.831T>G (p.Phe277Leu) | |
2 | g.149570136A>G | CA429405948 | MMADHC | c.729T>C (p.Phe243=) c.831T>C (p.Phe277=) | |
2 | g.149570136A>T | CA348869402 | MMADHC | c.729T>A (p.Phe243Leu) c.831T>A (p.Phe277Leu) | |
2 | g.149570140del | CA2661422183 | MMADHC | c.729del (p.Phe243LeufsTer10) c.831del (p.Phe277LeufsTer10) | gnomAD v4 |
2 | g.149570139_149570140del | CA1297264337 | MMADHC | c.728_729del (p.Phe243Ter) c.830_831del (p.Phe277Ter) | ClinVar dbSNP |
2 | g.149570137A>C | CA348869403 | MMADHC | c.728T>G (p.Phe243Cys) c.830T>G (p.Phe277Cys) | |
2 | g.149570137A>G | CA348869404 | MMADHC | c.728T>C (p.Phe243Ser) c.830T>C (p.Phe277Ser) | |
2 | g.149570137A>T | CA348869405 | MMADHC | c.728T>A (p.Phe243Tyr) c.830T>A (p.Phe277Tyr) |