Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.58010670G>A | CA392789931 | ALDH1A2 | c.472C>T (p.His158Tyr) c.*446C>T (n.*446C>T) c.409C>T (p.His137Tyr) c.385C>T (p.His129Tyr) n.318+3188C>T c.184C>T (p.His62Tyr) | |
15 | g.58010670G>C | CA392789933 | ALDH1A2 | c.472C>G (p.His158Asp) c.*446C>G (n.*446C>G) c.409C>G (p.His137Asp) c.385C>G (p.His129Asp) n.318+3188C>G c.184C>G (p.His62Asp) | |
15 | g.58010670G>T | CA392789932 | ALDH1A2 | c.472C>A (p.His158Asn) c.*446C>A (n.*446C>A) c.409C>A (p.His137Asn) c.385C>A (p.His129Asn) n.318+3188C>A c.184C>A (p.His62Asn) | |
15 | g.58010671A= | CA2180114055 | ALDH1A2 | c.471T= (p.Ile157=) c.*445T= (n.*445T=) c.408T= (p.Ile136=) c.384T= (p.Ile128=) n.318+3187T= c.183T= (p.Ile61=) | |
15 | g.58010671A>C | CA392789934 | ALDH1A2 | c.471T>G (p.Ile157Met) c.*445T>G (n.*445T>G) c.408T>G (p.Ile136Met) c.384T>G (p.Ile128Met) n.318+3187T>G c.183T>G (p.Ile61Met) | |
15 | g.58010671A>G | CA7584084 | ALDH1A2 | c.471T>C (p.Ile157=) c.*445T>C (n.*445T>C) c.408T>C (p.Ile136=) c.384T>C (p.Ile128=) n.318+3187T>C c.183T>C (p.Ile61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010671A>T | CA490587246 | ALDH1A2 | c.471T>A (p.Ile157=) c.*445T>A (n.*445T>A) c.408T>A (p.Ile136=) c.384T>A (p.Ile128=) n.318+3187T>A c.183T>A (p.Ile61=) | |
15 | g.58010672A>C | CA392789938 | ALDH1A2 | c.470T>G (p.Ile157Ser) c.*444T>G (n.*444T>G) c.407T>G (p.Ile136Ser) c.383T>G (p.Ile128Ser) n.318+3186T>G c.182T>G (p.Ile61Ser) | |
15 | g.58010672A>G | CA392789942 | ALDH1A2 | c.470T>C (p.Ile157Thr) c.*444T>C (n.*444T>C) c.407T>C (p.Ile136Thr) c.383T>C (p.Ile128Thr) n.318+3186T>C c.182T>C (p.Ile61Thr) | |
15 | g.58010672A>T | CA392789939 | ALDH1A2 | c.470T>A (p.Ile157Asn) c.*444T>A (n.*444T>A) c.407T>A (p.Ile136Asn) c.383T>A (p.Ile128Asn) n.318+3186T>A c.182T>A (p.Ile61Asn) | |
15 | g.58010673T>A | CA392789945 | ALDH1A2 | c.469A>T (p.Ile157Phe) c.*443A>T (n.*443A>T) c.406A>T (p.Ile136Phe) c.382A>T (p.Ile128Phe) n.318+3185A>T c.181A>T (p.Ile61Phe) | |
15 | g.58010673T>C | CA392789947 | ALDH1A2 | c.469A>G (p.Ile157Val) c.*443A>G (n.*443A>G) c.406A>G (p.Ile136Val) c.382A>G (p.Ile128Val) n.318+3185A>G c.181A>G (p.Ile61Val) | dbSNP |
15 | g.58010673T>G | CA392789948 | ALDH1A2 | c.469A>C (p.Ile157Leu) c.*443A>C (n.*443A>C) c.406A>C (p.Ile136Leu) c.382A>C (p.Ile128Leu) n.318+3185A>C c.181A>C (p.Ile61Leu) | |
15 | g.58010674T>A | CA392789949 | ALDH1A2 | c.468A>T (p.Lys156Asn) c.*442A>T (n.*442A>T) c.405A>T (p.Lys135Asn) c.381A>T (p.Lys127Asn) n.318+3184A>T c.180A>T (p.Lys60Asn) | |
15 | g.58010674T>C | CA490587247 | ALDH1A2 | c.468A>G (p.Lys156=) c.*442A>G (n.*442A>G) c.405A>G (p.Lys135=) c.381A>G (p.Lys127=) n.318+3184A>G c.180A>G (p.Lys60=) | |
15 | g.58010674T>G | CA392789950 | ALDH1A2 | c.468A>C (p.Lys156Asn) c.*442A>C (n.*442A>C) c.405A>C (p.Lys135Asn) c.381A>C (p.Lys127Asn) n.318+3184A>C c.180A>C (p.Lys60Asn) | |
15 | g.58010675T>A | CA392789951 | ALDH1A2 | c.467A>T (p.Lys156Ile) c.*441A>T (n.*441A>T) c.404A>T (p.Lys135Ile) c.380A>T (p.Lys127Ile) n.318+3183A>T c.179A>T (p.Lys60Ile) | |
15 | g.58010675T>C | CA392789952 | ALDH1A2 | c.467A>G (p.Lys156Arg) c.*441A>G (n.*441A>G) c.404A>G (p.Lys135Arg) c.380A>G (p.Lys127Arg) n.318+3183A>G c.179A>G (p.Lys60Arg) | |
15 | g.58010675T>G | CA392789954 | ALDH1A2 | c.467A>C (p.Lys156Thr) c.*441A>C (n.*441A>C) c.404A>C (p.Lys135Thr) c.380A>C (p.Lys127Thr) n.318+3183A>C c.179A>C (p.Lys60Thr) | |
15 | g.58010676T>A | CA392789956 | ALDH1A2 | c.466A>T (p.Lys156Ter) c.*440A>T (n.*440A>T) c.403A>T (p.Lys135Ter) c.379A>T (p.Lys127Ter) n.318+3182A>T c.178A>T (p.Lys60Ter) | |
15 | g.58010676T>C | CA392789958 | ALDH1A2 | c.466A>G (p.Lys156Glu) c.*440A>G (n.*440A>G) c.403A>G (p.Lys135Glu) c.379A>G (p.Lys127Glu) n.318+3182A>G c.178A>G (p.Lys60Glu) | |
15 | g.58010676T>G | CA392789960 | ALDH1A2 | c.466A>C (p.Lys156Gln) c.*440A>C (n.*440A>C) c.403A>C (p.Lys135Gln) c.379A>C (p.Lys127Gln) n.318+3182A>C c.178A>C (p.Lys60Gln) | |
15 | g.58010677A= | CA2180114057 | ALDH1A2 | c.465T= (p.Asp155=) c.*439T= (n.*439T=) c.402T= (p.Asp134=) c.378T= (p.Asp126=) n.318+3181T= c.177T= (p.Asp59=) | |
15 | g.58010677A>C | CA392789962 | ALDH1A2 | c.465T>G (p.Asp155Glu) c.*439T>G (n.*439T>G) c.402T>G (p.Asp134Glu) c.378T>G (p.Asp126Glu) n.318+3181T>G c.177T>G (p.Asp59Glu) | |
15 | g.58010677A>G | CA7584085 | ALDH1A2 | c.465T>C (p.Asp155=) c.*439T>C (n.*439T>C) c.402T>C (p.Asp134=) c.378T>C (p.Asp126=) n.318+3181T>C c.177T>C (p.Asp59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010677A>T | CA392789964 | ALDH1A2 | c.465T>A (p.Asp155Glu) c.*439T>A (n.*439T>A) c.402T>A (p.Asp134Glu) c.378T>A (p.Asp126Glu) n.318+3181T>A c.177T>A (p.Asp59Glu) | |
15 | g.58010678T>A | CA392789966 | ALDH1A2 | c.464A>T (p.Asp155Val) c.*438A>T (n.*438A>T) c.401A>T (p.Asp134Val) c.377A>T (p.Asp126Val) n.318+3180A>T c.176A>T (p.Asp59Val) | |
15 | g.58010678T>C | CA392789967 | ALDH1A2 | c.464A>G (p.Asp155Gly) c.*438A>G (n.*438A>G) c.401A>G (p.Asp134Gly) c.377A>G (p.Asp126Gly) n.318+3180A>G c.176A>G (p.Asp59Gly) | |
15 | g.58010678T>G | CA392789969 | ALDH1A2 | c.464A>C (p.Asp155Ala) c.*438A>C (n.*438A>C) c.401A>C (p.Asp134Ala) c.377A>C (p.Asp126Ala) n.318+3180A>C c.176A>C (p.Asp59Ala) | |
15 | g.58010679C>A | CA392789971 | ALDH1A2 | c.463G>T (p.Asp155Tyr) c.*437G>T (n.*437G>T) c.400G>T (p.Asp134Tyr) c.376G>T (p.Asp126Tyr) n.318+3179G>T c.175G>T (p.Asp59Tyr) | |
15 | g.58010679C>G | CA392789978 | ALDH1A2 | c.463G>C (p.Asp155His) c.*437G>C (n.*437G>C) c.400G>C (p.Asp134His) c.376G>C (p.Asp126His) n.318+3179G>C c.175G>C (p.Asp59His) | |
15 | g.58010679C>T | CA392789981 | ALDH1A2 | c.463G>A (p.Asp155Asn) c.*437G>A (n.*437G>A) c.400G>A (p.Asp134Asn) c.376G>A (p.Asp126Asn) n.318+3179G>A c.175G>A (p.Asp59Asn) | gnomAD v4 |
15 | g.58010680A>C | CA490587249 | ALDH1A2 | c.462T>G (p.Ala154=) c.*436T>G (n.*436T>G) c.399T>G (p.Ala133=) c.375T>G (p.Ala125=) n.318+3178T>G c.174T>G (p.Ala58=) | |
15 | g.58010680A>G | CA490587250 | ALDH1A2 | c.462T>C (p.Ala154=) c.*436T>C (n.*436T>C) c.399T>C (p.Ala133=) c.375T>C (p.Ala125=) n.318+3178T>C c.174T>C (p.Ala58=) | |
15 | g.58010680A>T | CA490587251 | ALDH1A2 | c.462T>A (p.Ala154=) c.*436T>A (n.*436T>A) c.399T>A (p.Ala133=) c.375T>A (p.Ala125=) n.318+3178T>A c.174T>A (p.Ala58=) | |
15 | g.58010681G>A | CA392789983 | ALDH1A2 | c.461C>T (p.Ala154Val) c.*435C>T (n.*435C>T) c.398C>T (p.Ala133Val) c.374C>T (p.Ala125Val) n.318+3177C>T c.173C>T (p.Ala58Val) | |
15 | g.58010681G>C | CA392789986 | ALDH1A2 | c.461C>G (p.Ala154Gly) c.*435C>G (n.*435C>G) c.398C>G (p.Ala133Gly) c.374C>G (p.Ala125Gly) n.318+3177C>G c.173C>G (p.Ala58Gly) | |
15 | g.58010681G>T | CA392789988 | ALDH1A2 | c.461C>A (p.Ala154Asp) c.*435C>A (n.*435C>A) c.398C>A (p.Ala133Asp) c.374C>A (p.Ala125Asp) n.318+3177C>A c.173C>A (p.Ala58Asp) | |
15 | g.58010682C>A | CA271346381 | ALDH1A2 | c.460G>T (p.Ala154Ser) c.*434G>T (n.*434G>T) c.397G>T (p.Ala133Ser) c.373G>T (p.Ala125Ser) n.318+3176G>T c.172G>T (p.Ala58Ser) | dbSNP |
15 | g.58010682C= | CA2180114062 | ALDH1A2 | c.460G= (p.Ala154=) c.*434G= (n.*434G=) c.397G= (p.Ala133=) c.373G= (p.Ala125=) n.318+3176G= c.172G= (p.Ala58=) | |
15 | g.58010682C>G | CA392789994 | ALDH1A2 | c.460G>C (p.Ala154Pro) c.*434G>C (n.*434G>C) c.397G>C (p.Ala133Pro) c.373G>C (p.Ala125Pro) n.318+3176G>C c.172G>C (p.Ala58Pro) | |
15 | g.58010682C>T | CA7584086 | ALDH1A2 | c.460G>A (p.Ala154Thr) c.*434G>A (n.*434G>A) c.397G>A (p.Ala133Thr) c.373G>A (p.Ala125Thr) n.318+3176G>A c.172G>A (p.Ala58Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010683C>A | CA392789997 | ALDH1A2 | c.459G>T (p.Trp153Cys) c.*433G>T (n.*433G>T) c.396G>T (p.Trp132Cys) c.372G>T (p.Trp124Cys) n.318+3175G>T c.171G>T (p.Trp57Cys) | |
15 | g.58010683C>G | CA392789999 | ALDH1A2 | c.459G>C (p.Trp153Cys) c.*433G>C (n.*433G>C) c.396G>C (p.Trp132Cys) c.372G>C (p.Trp124Cys) n.318+3175G>C c.171G>C (p.Trp57Cys) | |
15 | g.58010683C>T | CA392790002 | ALDH1A2 | c.459G>A (p.Trp153Ter) c.*433G>A (n.*433G>A) c.396G>A (p.Trp132Ter) c.372G>A (p.Trp124Ter) n.318+3175G>A c.171G>A (p.Trp57Ter) | |
15 | g.58010684C>A | CA392790006 | ALDH1A2 | c.458G>T (p.Trp153Leu) c.*432G>T (n.*432G>T) c.395G>T (p.Trp132Leu) c.371G>T (p.Trp124Leu) n.318+3174G>T c.170G>T (p.Trp57Leu) | |
15 | g.58010684C>G | CA392790007 | ALDH1A2 | c.458G>C (p.Trp153Ser) c.*432G>C (n.*432G>C) c.395G>C (p.Trp132Ser) c.371G>C (p.Trp124Ser) n.318+3174G>C c.170G>C (p.Trp57Ser) | |
15 | g.58010684C>T | CA392790008 | ALDH1A2 | c.458G>A (p.Trp153Ter) c.*432G>A (n.*432G>A) c.395G>A (p.Trp132Ter) c.371G>A (p.Trp124Ter) n.318+3174G>A c.170G>A (p.Trp57Ter) | |
15 | g.58010685A>C | CA392790010 | ALDH1A2 | c.457T>G (p.Trp153Gly) c.*431T>G (n.*431T>G) c.394T>G (p.Trp132Gly) c.370T>G (p.Trp124Gly) n.318+3173T>G c.169T>G (p.Trp57Gly) | |
15 | g.58010685A>G | CA392790012 | ALDH1A2 | c.457T>C (p.Trp153Arg) c.*431T>C (n.*431T>C) c.394T>C (p.Trp132Arg) c.370T>C (p.Trp124Arg) n.318+3173T>C c.169T>C (p.Trp57Arg) | gnomAD v4 |
15 | g.58010685A>T | CA392790014 | ALDH1A2 | c.457T>A (p.Trp153Arg) c.*431T>A (n.*431T>A) c.394T>A (p.Trp132Arg) c.370T>A (p.Trp124Arg) n.318+3173T>A c.169T>A (p.Trp57Arg) | |
15 | g.58010686G>A | CA490587255 | ALDH1A2 | c.456C>T (p.Gly152=) c.*430C>T (n.*430C>T) c.393C>T (p.Gly131=) c.369C>T (p.Gly123=) n.318+3172C>T c.168C>T (p.Gly56=) | gnomAD v4 |
15 | g.58010686G>C | CA490587256 | ALDH1A2 | c.456C>G (p.Gly152=) c.*430C>G (n.*430C>G) c.393C>G (p.Gly131=) c.369C>G (p.Gly123=) n.318+3172C>G c.168C>G (p.Gly56=) | |
15 | g.58010686G>T | CA490587257 | ALDH1A2 | c.456C>A (p.Gly152=) c.*430C>A (n.*430C>A) c.393C>A (p.Gly131=) c.369C>A (p.Gly123=) n.318+3172C>A c.168C>A (p.Gly56=) | |
15 | g.58010687C>A | CA392790015 | ALDH1A2 | c.455G>T (p.Gly152Val) c.*429G>T (n.*429G>T) c.392G>T (p.Gly131Val) c.368G>T (p.Gly123Val) n.318+3171G>T c.167G>T (p.Gly56Val) | |
15 | g.58010687C>G | CA392790016 | ALDH1A2 | c.455G>C (p.Gly152Ala) c.*429G>C (n.*429G>C) c.392G>C (p.Gly131Ala) c.368G>C (p.Gly123Ala) n.318+3171G>C c.167G>C (p.Gly56Ala) | |
15 | g.58010687C>T | CA392790018 | ALDH1A2 | c.455G>A (p.Gly152Asp) c.*429G>A (n.*429G>A) c.392G>A (p.Gly131Asp) c.368G>A (p.Gly123Asp) n.318+3171G>A c.167G>A (p.Gly56Asp) | gnomAD v4 |
15 | g.58010688C>A | CA392790025 | ALDH1A2 | c.454G>T (p.Gly152Cys) c.*428G>T (n.*428G>T) c.391G>T (p.Gly131Cys) c.367G>T (p.Gly123Cys) n.318+3170G>T c.166G>T (p.Gly56Cys) | |
15 | g.58010688C>G | CA392790020 | ALDH1A2 | c.454G>C (p.Gly152Arg) c.*428G>C (n.*428G>C) c.391G>C (p.Gly131Arg) c.367G>C (p.Gly123Arg) n.318+3170G>C c.166G>C (p.Gly56Arg) | |
15 | g.58010688C>T | CA392790022 | ALDH1A2 | c.454G>A (p.Gly152Ser) c.*428G>A (n.*428G>A) c.391G>A (p.Gly131Ser) c.367G>A (p.Gly123Ser) n.318+3170G>A c.166G>A (p.Gly56Ser) | |
15 | g.58010689T>A | CA490587258 | ALDH1A2 | c.453A>T (p.Ala151=) c.*427A>T (n.*427A>T) c.390A>T (p.Ala130=) c.366A>T (p.Ala122=) n.318+3169A>T c.165A>T (p.Ala55=) | |
15 | g.58010689T>C | CA7584087 | ALDH1A2 | c.453A>G (p.Ala151=) c.*427A>G (n.*427A>G) c.390A>G (p.Ala130=) c.366A>G (p.Ala122=) n.318+3169A>G c.165A>G (p.Ala55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010689T>G | CA490587259 | ALDH1A2 | c.453A>C (p.Ala151=) c.*427A>C (n.*427A>C) c.390A>C (p.Ala130=) c.366A>C (p.Ala122=) n.318+3169A>C c.165A>C (p.Ala55=) | |
15 | g.58010689T= | CA2180114068 | ALDH1A2 | c.453A= (p.Ala151=) c.*427A= (n.*427A=) c.390A= (p.Ala130=) c.366A= (p.Ala122=) n.318+3169A= c.165A= (p.Ala55=) | |
15 | g.58010690G>A | CA392790028 | ALDH1A2 | c.452C>T (p.Ala151Val) c.*426C>T (n.*426C>T) c.389C>T (p.Ala130Val) c.365C>T (p.Ala122Val) n.318+3168C>T c.164C>T (p.Ala55Val) | |
15 | g.58010690G>C | CA392790031 | ALDH1A2 | c.452C>G (p.Ala151Gly) c.*426C>G (n.*426C>G) c.389C>G (p.Ala130Gly) c.365C>G (p.Ala122Gly) n.318+3168C>G c.164C>G (p.Ala55Gly) | |
15 | g.58010690G>T | CA392790032 | ALDH1A2 | c.452C>A (p.Ala151Glu) c.*426C>A (n.*426C>A) c.389C>A (p.Ala130Glu) c.365C>A (p.Ala122Glu) n.318+3168C>A c.164C>A (p.Ala55Glu) | |
15 | g.58010691C>A | CA7584088 | ALDH1A2 | c.451G>T (p.Ala151Ser) c.*425G>T (n.*425G>T) c.388G>T (p.Ala130Ser) c.364G>T (p.Ala122Ser) n.318+3167G>T c.163G>T (p.Ala55Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010691C= | CA2180114074 | ALDH1A2 | c.451G= (p.Ala151=) c.*425G= (n.*425G=) c.388G= (p.Ala130=) c.364G= (p.Ala122=) n.318+3167G= c.163G= (p.Ala55=) | |
15 | g.58010691C>G | CA392790036 | ALDH1A2 | c.451G>C (p.Ala151Pro) c.*425G>C (n.*425G>C) c.388G>C (p.Ala130Pro) c.364G>C (p.Ala122Pro) n.318+3167G>C c.163G>C (p.Ala55Pro) | |
15 | g.58010691C>T | CA392790038 | ALDH1A2 | c.451G>A (p.Ala151Thr) c.*425G>A (n.*425G>A) c.388G>A (p.Ala130Thr) c.364G>A (p.Ala122Thr) n.318+3167G>A c.163G>A (p.Ala55Thr) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010692G>A | CA7584089 | ALDH1A2 | c.450C>T (p.Tyr150=) c.*424C>T (n.*424C>T) c.387C>T (p.Tyr129=) c.363C>T (p.Tyr121=) n.318+3166C>T c.162C>T (p.Tyr54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010692G>C | CA392790043 | ALDH1A2 | c.450C>G (p.Tyr150Ter) c.*424C>G (n.*424C>G) c.387C>G (p.Tyr129Ter) c.363C>G (p.Tyr121Ter) n.318+3166C>G c.162C>G (p.Tyr54Ter) | |
15 | g.58010692G= | CA2180114076 | ALDH1A2 | c.450C= (p.Tyr150=) c.*424C= (n.*424C=) c.387C= (p.Tyr129=) c.363C= (p.Tyr121=) n.318+3166C= c.162C= (p.Tyr54=) | |
15 | g.58010692G>T | CA392790045 | ALDH1A2 | c.450C>A (p.Tyr150Ter) c.*424C>A (n.*424C>A) c.387C>A (p.Tyr129Ter) c.363C>A (p.Tyr121Ter) n.318+3166C>A c.162C>A (p.Tyr54Ter) | |
15 | g.58010693T>A | CA392790048 | ALDH1A2 | c.449A>T (p.Tyr150Phe) c.*423A>T (n.*423A>T) c.386A>T (p.Tyr129Phe) c.362A>T (p.Tyr121Phe) n.318+3165A>T c.161A>T (p.Tyr54Phe) | |
15 | g.58010693T>C | CA392790050 | ALDH1A2 | c.449A>G (p.Tyr150Cys) c.*423A>G (n.*423A>G) c.386A>G (p.Tyr129Cys) c.362A>G (p.Tyr121Cys) n.318+3165A>G c.161A>G (p.Tyr54Cys) | gnomAD v4 |
15 | g.58010693T>G | CA392790051 | ALDH1A2 | c.449A>C (p.Tyr150Ser) c.*423A>C (n.*423A>C) c.386A>C (p.Tyr129Ser) c.362A>C (p.Tyr121Ser) n.318+3165A>C c.161A>C (p.Tyr54Ser) | |
15 | g.58010694A>C | CA392790056 | ALDH1A2 | c.448T>G (p.Tyr150Asp) c.*422T>G (n.*422T>G) c.385T>G (p.Tyr129Asp) c.361T>G (p.Tyr121Asp) n.318+3164T>G c.160T>G (p.Tyr54Asp) | |
15 | g.58010694A>G | CA392790058 | ALDH1A2 | c.448T>C (p.Tyr150His) c.*422T>C (n.*422T>C) c.385T>C (p.Tyr129His) c.361T>C (p.Tyr121His) n.318+3164T>C c.160T>C (p.Tyr54His) | gnomAD v4 |
15 | g.58010694A>T | CA392790054 | ALDH1A2 | c.448T>A (p.Tyr150Asn) c.*422T>A (n.*422T>A) c.385T>A (p.Tyr129Asn) c.361T>A (p.Tyr121Asn) n.318+3164T>A c.160T>A (p.Tyr54Asn) | COSMIC |
15 | g.58010695A= | CA2180114082 | ALDH1A2 | c.447T= (p.Tyr149=) c.*421T= (n.*421T=) c.384T= (p.Tyr128=) c.360T= (p.Tyr120=) n.318+3163T= c.159T= (p.Tyr53=) | |
15 | g.58010695A>C | CA392790063 | ALDH1A2 | c.447T>G (p.Tyr149Ter) c.*421T>G (n.*421T>G) c.384T>G (p.Tyr128Ter) c.360T>G (p.Tyr120Ter) n.318+3163T>G c.159T>G (p.Tyr53Ter) | |
15 | g.58010695A>G | CA7584090 | ALDH1A2 | c.447T>C (p.Tyr149=) c.*421T>C (n.*421T>C) c.384T>C (p.Tyr128=) c.360T>C (p.Tyr120=) n.318+3163T>C c.159T>C (p.Tyr53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010695A>T | CA392790067 | ALDH1A2 | c.447T>A (p.Tyr149Ter) c.*421T>A (n.*421T>A) c.384T>A (p.Tyr128Ter) c.360T>A (p.Tyr120Ter) n.318+3163T>A c.159T>A (p.Tyr53Ter) | |
15 | g.58010696T>A | CA392790070 | ALDH1A2 | c.446A>T (p.Tyr149Phe) c.*420A>T (n.*420A>T) c.383A>T (p.Tyr128Phe) c.359A>T (p.Tyr120Phe) n.318+3162A>T c.158A>T (p.Tyr53Phe) | |
15 | g.58010696T>C | CA7584091 | ALDH1A2 | c.446A>G (p.Tyr149Cys) c.*420A>G (n.*420A>G) c.383A>G (p.Tyr128Cys) c.359A>G (p.Tyr120Cys) n.318+3162A>G c.158A>G (p.Tyr53Cys) | dbSNP ExAC |
15 | g.58010696T>G | CA392790073 | ALDH1A2 | c.446A>C (p.Tyr149Ser) c.*420A>C (n.*420A>C) c.383A>C (p.Tyr128Ser) c.359A>C (p.Tyr120Ser) n.318+3162A>C c.158A>C (p.Tyr53Ser) | |
15 | g.58010696T= | CA2180114087 | ALDH1A2 | c.446A= (p.Tyr149=) c.*420A= (n.*420A=) c.383A= (p.Tyr128=) c.359A= (p.Tyr120=) n.318+3162A= c.158A= (p.Tyr53=) | |
15 | g.58010697A>C | CA392790075 | ALDH1A2 | c.445T>G (p.Tyr149Asp) c.*419T>G (n.*419T>G) c.382T>G (p.Tyr128Asp) c.358T>G (p.Tyr120Asp) n.318+3161T>G c.157T>G (p.Tyr53Asp) | |
15 | g.58010697A>G | CA392790077 | ALDH1A2 | c.445T>C (p.Tyr149His) c.*419T>C (n.*419T>C) c.382T>C (p.Tyr128His) c.358T>C (p.Tyr120His) n.318+3161T>C c.157T>C (p.Tyr53His) | |
15 | g.58010697A>T | CA392790080 | ALDH1A2 | c.445T>A (p.Tyr149Asn) c.*419T>A (n.*419T>A) c.382T>A (p.Tyr128Asn) c.358T>A (p.Tyr120Asn) n.318+3161T>A c.157T>A (p.Tyr53Asn) | |
15 | g.58010698T>A | CA490587261 | ALDH1A2 | c.444A>T (p.Arg148=) c.*418A>T (n.*418A>T) c.381A>T (p.Arg127=) c.357A>T (p.Arg119=) n.318+3160A>T c.156A>T (p.Arg52=) | |
15 | g.58010698T>C | CA271346382 | ALDH1A2 | c.444A>G (p.Arg148=) c.*418A>G (n.*418A>G) c.381A>G (p.Arg127=) c.357A>G (p.Arg119=) n.318+3160A>G c.156A>G (p.Arg52=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010698T>G | CA490587262 | ALDH1A2 | c.444A>C (p.Arg148=) c.*418A>C (n.*418A>C) c.381A>C (p.Arg127=) c.357A>C (p.Arg119=) n.318+3160A>C c.156A>C (p.Arg52=) | |
15 | g.58010698T= | CA2180114090 | ALDH1A2 | c.444A= (p.Arg148=) c.*418A= (n.*418A=) c.381A= (p.Arg127=) c.357A= (p.Arg119=) n.318+3160A= c.156A= (p.Arg52=) | |
15 | g.58010699C>A | CA392790082 | ALDH1A2 | c.443G>T (p.Arg148Leu) c.*417G>T (n.*417G>T) c.380G>T (p.Arg127Leu) c.356G>T (p.Arg119Leu) n.318+3159G>T c.155G>T (p.Arg52Leu) | gnomAD v4 |
15 | g.58010699C= | CA2180114095 | ALDH1A2 | c.443G= (p.Arg148=) c.*417G= (n.*417G=) c.380G= (p.Arg127=) c.356G= (p.Arg119=) n.318+3159G= c.155G= (p.Arg52=) | |
15 | g.58010699C>G | CA392790084 | ALDH1A2 | c.443G>C (p.Arg148Pro) c.*417G>C (n.*417G>C) c.380G>C (p.Arg127Pro) c.356G>C (p.Arg119Pro) n.318+3159G>C c.155G>C (p.Arg52Pro) | |
15 | g.58010699C>T | CA7584092 | ALDH1A2 | c.443G>A (p.Arg148Gln) c.*417G>A (n.*417G>A) c.380G>A (p.Arg127Gln) c.356G>A (p.Arg119Gln) n.318+3159G>A c.155G>A (p.Arg52Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.58010700G>A | CA392790088 | ALDH1A2 | c.442C>T (p.Arg148Ter) c.*416C>T (n.*416C>T) c.379C>T (p.Arg127Ter) c.355C>T (p.Arg119Ter) n.318+3158C>T c.154C>T (p.Arg52Ter) | gnomAD v4 COSMIC |
15 | g.58010700G>C | CA392790091 | ALDH1A2 | c.442C>G (p.Arg148Gly) c.*416C>G (n.*416C>G) c.379C>G (p.Arg127Gly) c.355C>G (p.Arg119Gly) n.318+3158C>G c.154C>G (p.Arg52Gly) | |
15 | g.58010700G>T | CA490587263 | ALDH1A2 | c.442C>A (p.Arg148=) c.*416C>A (n.*416C>A) c.379C>A (p.Arg127=) c.355C>A (p.Arg119=) n.318+3158C>A c.154C>A (p.Arg52=) | |
15 | g.58010701A= | CA2180114102 | ALDH1A2 | c.441T= (p.Phe147=) c.*415T= (n.*415T=) c.378T= (p.Phe126=) c.354T= (p.Phe118=) n.318+3157T= c.153T= (p.Phe51=) | |
15 | g.58010701A>C | CA392790094 | ALDH1A2 | c.441T>G (p.Phe147Leu) c.*415T>G (n.*415T>G) c.378T>G (p.Phe126Leu) c.354T>G (p.Phe118Leu) n.318+3157T>G c.153T>G (p.Phe51Leu) | dbSNP gnomAD v2 |
15 | g.58010701A>G | CA490587264 | ALDH1A2 | c.441T>C (p.Phe147=) c.*415T>C (n.*415T>C) c.378T>C (p.Phe126=) c.354T>C (p.Phe118=) n.318+3157T>C c.153T>C (p.Phe51=) | gnomAD v4 |
15 | g.58010701A>T | CA392790093 | ALDH1A2 | c.441T>A (p.Phe147Leu) c.*415T>A (n.*415T>A) c.378T>A (p.Phe126Leu) c.354T>A (p.Phe118Leu) n.318+3157T>A c.153T>A (p.Phe51Leu) | |
15 | g.58010702A>C | CA392790096 | ALDH1A2 | c.440T>G (p.Phe147Cys) c.*414T>G (n.*414T>G) c.377T>G (p.Phe126Cys) c.353T>G (p.Phe118Cys) n.318+3156T>G c.152T>G (p.Phe51Cys) | |
15 | g.58010702A>G | CA392790098 | ALDH1A2 | c.440T>C (p.Phe147Ser) c.*414T>C (n.*414T>C) c.377T>C (p.Phe126Ser) c.353T>C (p.Phe118Ser) n.318+3156T>C c.152T>C (p.Phe51Ser) | |
15 | g.58010702A>T | CA392790100 | ALDH1A2 | c.440T>A (p.Phe147Tyr) c.*414T>A (n.*414T>A) c.377T>A (p.Phe126Tyr) c.353T>A (p.Phe118Tyr) n.318+3156T>A c.152T>A (p.Phe51Tyr) | |
15 | g.58010703A>C | CA392790104 | ALDH1A2 | c.439T>G (p.Phe147Val) c.*413T>G (n.*413T>G) c.376T>G (p.Phe126Val) c.352T>G (p.Phe118Val) n.318+3155T>G c.151T>G (p.Phe51Val) | |
15 | g.58010703A>G | CA392790105 | ALDH1A2 | c.439T>C (p.Phe147Leu) c.*413T>C (n.*413T>C) c.376T>C (p.Phe126Leu) c.352T>C (p.Phe118Leu) n.318+3155T>C c.151T>C (p.Phe51Leu) | dbSNP gnomAD v4 |
15 | g.58010703A>T | CA392790108 | ALDH1A2 | c.439T>A (p.Phe147Ile) c.*413T>A (n.*413T>A) c.376T>A (p.Phe126Ile) c.352T>A (p.Phe118Ile) n.318+3155T>A c.151T>A (p.Phe51Ile) | dbSNP |
15 | g.58010704G>A | CA490587265 | ALDH1A2 | c.438C>T (p.Thr146=) c.*412C>T (n.*412C>T) c.375C>T (p.Thr125=) c.351C>T (p.Thr117=) n.318+3154C>T c.150C>T (p.Thr50=) | |
15 | g.58010704G>C | CA490587266 | ALDH1A2 | c.438C>G (p.Thr146=) c.*412C>G (n.*412C>G) c.375C>G (p.Thr125=) c.351C>G (p.Thr117=) n.318+3154C>G c.150C>G (p.Thr50=) | |
15 | g.58010704G>T | CA490587267 | ALDH1A2 | c.438C>A (p.Thr146=) c.*412C>A (n.*412C>A) c.375C>A (p.Thr125=) c.351C>A (p.Thr117=) n.318+3154C>A c.150C>A (p.Thr50=) | |
15 | g.58010705G>A | CA392790115 | ALDH1A2 | c.437C>T (p.Thr146Ile) c.*411C>T (n.*411C>T) c.374C>T (p.Thr125Ile) c.350C>T (p.Thr117Ile) n.318+3153C>T c.149C>T (p.Thr50Ile) | dbSNP gnomAD v2 |
15 | g.58010705G>C | CA392790111 | ALDH1A2 | c.437C>G (p.Thr146Ser) c.*411C>G (n.*411C>G) c.374C>G (p.Thr125Ser) c.350C>G (p.Thr117Ser) n.318+3153C>G c.149C>G (p.Thr50Ser) | |
15 | g.58010705G= | CA2180114106 | ALDH1A2 | c.437C= (p.Thr146=) c.*411C= (n.*411C=) c.374C= (p.Thr125=) c.350C= (p.Thr117=) n.318+3153C= c.149C= (p.Thr50=) | |
15 | g.58010705G>T | CA392790113 | ALDH1A2 | c.437C>A (p.Thr146Asn) c.*411C>A (n.*411C>A) c.374C>A (p.Thr125Asn) c.350C>A (p.Thr117Asn) n.318+3153C>A c.149C>A (p.Thr50Asn) | |
15 | g.58010706T>A | CA392790118 | ALDH1A2 | c.436A>T (p.Thr146Ser) c.*410A>T (n.*410A>T) c.373A>T (p.Thr125Ser) c.349A>T (p.Thr117Ser) n.318+3152A>T c.148A>T (p.Thr50Ser) | |
15 | g.58010706T>C | CA392790120 | ALDH1A2 | c.436A>G (p.Thr146Ala) c.*410A>G (n.*410A>G) c.373A>G (p.Thr125Ala) c.349A>G (p.Thr117Ala) n.318+3152A>G c.148A>G (p.Thr50Ala) | |
15 | g.58010706T>G | CA392790122 | ALDH1A2 | c.436A>C (p.Thr146Pro) c.*410A>C (n.*410A>C) c.373A>C (p.Thr125Pro) c.349A>C (p.Thr117Pro) n.318+3152A>C c.148A>C (p.Thr50Pro) | |
15 | g.58010707T>A | CA392790124 | ALDH1A2 | c.435A>T (p.Lys145Asn) c.*409A>T (n.*409A>T) c.372A>T (p.Lys124Asn) c.348A>T (p.Lys116Asn) n.318+3151A>T c.147A>T (p.Lys49Asn) | |
15 | g.58010707T>C | CA490587268 | ALDH1A2 | c.435A>G (p.Lys145=) c.*409A>G (n.*409A>G) c.372A>G (p.Lys124=) c.348A>G (p.Lys116=) n.318+3151A>G c.147A>G (p.Lys49=) | |
15 | g.58010707T>G | CA392790127 | ALDH1A2 | c.435A>C (p.Lys145Asn) c.*409A>C (n.*409A>C) c.372A>C (p.Lys124Asn) c.348A>C (p.Lys116Asn) n.318+3151A>C c.147A>C (p.Lys49Asn) | |
15 | g.58010708T>A | CA392790129 | ALDH1A2 | c.434A>T (p.Lys145Ile) c.*408A>T (n.*408A>T) c.371A>T (p.Lys124Ile) c.347A>T (p.Lys116Ile) n.318+3150A>T c.146A>T (p.Lys49Ile) | COSMIC |
15 | g.58010708T>C | CA392790134 | ALDH1A2 | c.434A>G (p.Lys145Arg) c.*408A>G (n.*408A>G) c.371A>G (p.Lys124Arg) c.347A>G (p.Lys116Arg) n.318+3150A>G c.146A>G (p.Lys49Arg) | |
15 | g.58010708T>G | CA392790132 | ALDH1A2 | c.434A>C (p.Lys145Thr) c.*408A>C (n.*408A>C) c.371A>C (p.Lys124Thr) c.347A>C (p.Lys116Thr) n.318+3150A>C c.146A>C (p.Lys49Thr) | |
15 | g.58010709T>A | CA392790138 | ALDH1A2 | c.433A>T (p.Lys145Ter) c.*407A>T (n.*407A>T) c.370A>T (p.Lys124Ter) c.346A>T (p.Lys116Ter) n.318+3149A>T c.145A>T (p.Lys49Ter) | |
15 | g.58010709T>C | CA392790139 | ALDH1A2 | c.433A>G (p.Lys145Glu) c.*407A>G (n.*407A>G) c.370A>G (p.Lys124Glu) c.346A>G (p.Lys116Glu) n.318+3149A>G c.145A>G (p.Lys49Glu) | |
15 | g.58010709T>G | CA392790142 | ALDH1A2 | c.433A>C (p.Lys145Gln) c.*407A>C (n.*407A>C) c.370A>C (p.Lys124Gln) c.346A>C (p.Lys116Gln) n.318+3149A>C c.145A>C (p.Lys49Gln) | |
15 | g.58010710G>A | CA490587269 | ALDH1A2 | c.432C>T (p.Ile144=) c.*406C>T (n.*406C>T) c.369C>T (p.Ile123=) c.345C>T (p.Ile115=) n.318+3148C>T c.144C>T (p.Ile48=) | |
15 | g.58010710G>C | CA392790144 | ALDH1A2 | c.432C>G (p.Ile144Met) c.*406C>G (n.*406C>G) c.369C>G (p.Ile123Met) c.345C>G (p.Ile115Met) n.318+3148C>G c.144C>G (p.Ile48Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010710G= | CA2180114109 | ALDH1A2 | c.432C= (p.Ile144=) c.*406C= (n.*406C=) c.369C= (p.Ile123=) c.345C= (p.Ile115=) n.318+3148C= c.144C= (p.Ile48=) | |
15 | g.58010710G>T | CA490587270 | ALDH1A2 | c.432C>A (p.Ile144=) c.*406C>A (n.*406C>A) c.369C>A (p.Ile123=) c.345C>A (p.Ile115=) n.318+3148C>A c.144C>A (p.Ile48=) | |
15 | g.58010711A>C | CA392790145 | ALDH1A2 | c.431T>G (p.Ile144Ser) c.*405T>G (n.*405T>G) c.368T>G (p.Ile123Ser) c.344T>G (p.Ile115Ser) n.318+3147T>G c.143T>G (p.Ile48Ser) | |
15 | g.58010711A>G | CA392790146 | ALDH1A2 | c.431T>C (p.Ile144Thr) c.*405T>C (n.*405T>C) c.368T>C (p.Ile123Thr) c.344T>C (p.Ile115Thr) n.318+3147T>C c.143T>C (p.Ile48Thr) | |
15 | g.58010711A>T | CA392790147 | ALDH1A2 | c.431T>A (p.Ile144Asn) c.*405T>A (n.*405T>A) c.368T>A (p.Ile123Asn) c.344T>A (p.Ile115Asn) n.318+3147T>A c.143T>A (p.Ile48Asn) | |
15 | g.58010712T>A | CA392790148 | ALDH1A2 | c.430A>T (p.Ile144Phe) c.*404A>T (n.*404A>T) c.367A>T (p.Ile123Phe) c.343A>T (p.Ile115Phe) n.318+3146A>T c.142A>T (p.Ile48Phe) | |
15 | g.58010712T>C | CA392790149 | ALDH1A2 | c.430A>G (p.Ile144Val) c.*404A>G (n.*404A>G) c.367A>G (p.Ile123Val) c.343A>G (p.Ile115Val) n.318+3146A>G c.142A>G (p.Ile48Val) | dbSNP gnomAD v2 |
15 | g.58010712T>G | CA392790150 | ALDH1A2 | c.430A>C (p.Ile144Leu) c.*404A>C (n.*404A>C) c.367A>C (p.Ile123Leu) c.343A>C (p.Ile115Leu) n.318+3146A>C c.142A>C (p.Ile48Leu) | gnomAD v4 |
15 | g.58010712T= | CA2180114113 | ALDH1A2 | c.430A= (p.Ile144=) c.*404A= (n.*404A=) c.367A= (p.Ile123=) c.343A= (p.Ile115=) n.318+3146A= c.142A= (p.Ile48=) | |
15 | g.58010713G>A | CA490587272 | ALDH1A2 | c.429C>T (p.Val143=) c.*403C>T (n.*403C>T) c.366C>T (p.Val122=) c.342C>T (p.Val114=) n.318+3145C>T c.141C>T (p.Val47=) | |
15 | g.58010713G>C | CA490587273 | ALDH1A2 | c.429C>G (p.Val143=) c.*403C>G (n.*403C>G) c.366C>G (p.Val122=) c.342C>G (p.Val114=) n.318+3145C>G c.141C>G (p.Val47=) | |
15 | g.58010713G>T | CA490587274 | ALDH1A2 | c.429C>A (p.Val143=) c.*403C>A (n.*403C>A) c.366C>A (p.Val122=) c.342C>A (p.Val114=) n.318+3145C>A c.141C>A (p.Val47=) | |
15 | g.58010714A>C | CA392790151 | ALDH1A2 | c.428T>G (p.Val143Gly) c.*402T>G (n.*402T>G) c.365T>G (p.Val122Gly) c.341T>G (p.Val114Gly) n.318+3144T>G c.140T>G (p.Val47Gly) | |
15 | g.58010714A>G | CA392790152 | ALDH1A2 | c.428T>C (p.Val143Ala) c.*402T>C (n.*402T>C) c.365T>C (p.Val122Ala) c.341T>C (p.Val114Ala) n.318+3144T>C c.140T>C (p.Val47Ala) | |
15 | g.58010714A>T | CA392790153 | ALDH1A2 | c.428T>A (p.Val143Asp) c.*402T>A (n.*402T>A) c.365T>A (p.Val122Asp) c.341T>A (p.Val114Asp) n.318+3144T>A c.140T>A (p.Val47Asp) | |
15 | g.58010715C>A | CA392790155 | ALDH1A2 | c.427G>T (p.Val143Phe) c.*401G>T (n.*401G>T) c.364G>T (p.Val122Phe) c.340G>T (p.Val114Phe) n.318+3143G>T c.139G>T (p.Val47Phe) | |
15 | g.58010715C= | CA2180114118 | ALDH1A2 | c.427G= (p.Val143=) c.*401G= (n.*401G=) c.364G= (p.Val122=) c.340G= (p.Val114=) n.318+3143G= c.139G= (p.Val47=) | |
15 | g.58010715C>G | CA392790154 | ALDH1A2 | c.427G>C (p.Val143Leu) c.*401G>C (n.*401G>C) c.364G>C (p.Val122Leu) c.340G>C (p.Val114Leu) n.318+3143G>C c.139G>C (p.Val47Leu) | |
15 | g.58010715C>T | CA7584093 | ALDH1A2 | c.427G>A (p.Val143Ile) c.*401G>A (n.*401G>A) c.364G>A (p.Val122Ile) c.340G>A (p.Val114Ile) n.318+3143G>A c.139G>A (p.Val47Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.58010716G>A | CA7584094 | ALDH1A2 | c.426C>T (p.Gly142=) c.*400C>T (n.*400C>T) c.363C>T (p.Gly121=) c.339C>T (p.Gly113=) n.318+3142C>T c.138C>T (p.Gly46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.58010716G>C | CA490587275 | ALDH1A2 | c.426C>G (p.Gly142=) c.*400C>G (n.*400C>G) c.363C>G (p.Gly121=) c.339C>G (p.Gly113=) n.318+3142C>G c.138C>G (p.Gly46=) | |
15 | g.58010716G= | CA2180114122 | ALDH1A2 | c.426C= (p.Gly142=) c.*400C= (n.*400C=) c.363C= (p.Gly121=) c.339C= (p.Gly113=) n.318+3142C= c.138C= (p.Gly46=) | |
15 | g.58010716G>T | CA490587276 | ALDH1A2 | c.426C>A (p.Gly142=) c.*400C>A (n.*400C>A) c.363C>A (p.Gly121=) c.339C>A (p.Gly113=) n.318+3142C>A c.138C>A (p.Gly46=) | COSMIC |
15 | g.58010717C>A | CA392790156 | ALDH1A2 | c.425G>T (p.Gly142Val) c.*399G>T (n.*399G>T) c.362G>T (p.Gly121Val) c.338G>T (p.Gly113Val) n.318+3141G>T c.137G>T (p.Gly46Val) | |
15 | g.58010717C= | CA2180114124 | ALDH1A2 | c.425G= (p.Gly142=) c.*399G= (n.*399G=) c.362G= (p.Gly121=) c.338G= (p.Gly113=) n.318+3141G= c.137G= (p.Gly46=) | |
15 | g.58010717C>G | CA271346383 | ALDH1A2 | c.425G>C (p.Gly142Ala) c.*399G>C (n.*399G>C) c.362G>C (p.Gly121Ala) c.338G>C (p.Gly113Ala) n.318+3141G>C c.137G>C (p.Gly46Ala) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010717C>T | CA392790157 | ALDH1A2 | c.425G>A (p.Gly142Asp) c.*399G>A (n.*399G>A) c.362G>A (p.Gly121Asp) c.338G>A (p.Gly113Asp) n.318+3141G>A c.137G>A (p.Gly46Asp) | |
15 | g.58010718C>A | CA392790158 | ALDH1A2 | c.424G>T (p.Gly142Cys) c.*398G>T (n.*398G>T) c.361G>T (p.Gly121Cys) c.337G>T (p.Gly113Cys) n.318+3140G>T c.136G>T (p.Gly46Cys) | |
15 | g.58010718C>G | CA392790159 | ALDH1A2 | c.424G>C (p.Gly142Arg) c.*398G>C (n.*398G>C) c.361G>C (p.Gly121Arg) c.337G>C (p.Gly113Arg) n.318+3140G>C c.136G>C (p.Gly46Arg) | |
15 | g.58010718C>T | CA392790160 | ALDH1A2 | c.424G>A (p.Gly142Ser) c.*398G>A (n.*398G>A) c.361G>A (p.Gly121Ser) c.337G>A (p.Gly113Ser) n.318+3140G>A c.136G>A (p.Gly46Ser) | |
15 | g.58010719C>A | CA392790161 | ALDH1A2 | c.423G>T (p.Gln141His) c.*397G>T (n.*397G>T) c.360G>T (p.Gln120His) c.336G>T (p.Gln112His) n.318+3139G>T c.135G>T (p.Gln45His) | |
15 | g.58010719C>G | CA392790162 | ALDH1A2 | c.423G>C (p.Gln141His) c.*397G>C (n.*397G>C) c.360G>C (p.Gln120His) c.336G>C (p.Gln112His) n.318+3139G>C c.135G>C (p.Gln45His) | |
15 | g.58010719C>T | CA490587278 | ALDH1A2 | c.423G>A (p.Gln141=) c.*397G>A (n.*397G>A) c.360G>A (p.Gln120=) c.336G>A (p.Gln112=) n.318+3139G>A c.135G>A (p.Gln45=) | |
15 | g.58010720T>A | CA392790163 | ALDH1A2 | c.422A>T (p.Gln141Leu) c.*396A>T (n.*396A>T) c.359A>T (p.Gln120Leu) c.335A>T (p.Gln112Leu) n.318+3138A>T c.134A>T (p.Gln45Leu) | |
15 | g.58010720T>C | CA392790164 | ALDH1A2 | c.422A>G (p.Gln141Arg) c.*396A>G (n.*396A>G) c.359A>G (p.Gln120Arg) c.335A>G (p.Gln112Arg) n.318+3138A>G c.134A>G (p.Gln45Arg) | dbSNP gnomAD v4 |
15 | g.58010720T>G | CA392790165 | ALDH1A2 | c.422A>C (p.Gln141Pro) c.*396A>C (n.*396A>C) c.359A>C (p.Gln120Pro) c.335A>C (p.Gln112Pro) n.318+3138A>C c.134A>C (p.Gln45Pro) | |
15 | g.58010721G>A | CA392790168 | ALDH1A2 | c.421C>T (p.Gln141Ter) c.*395C>T (n.*395C>T) c.358C>T (p.Gln120Ter) c.334C>T (p.Gln112Ter) n.318+3137C>T c.133C>T (p.Gln45Ter) | |
15 | g.58010721G>C | CA392790167 | ALDH1A2 | c.421C>G (p.Gln141Glu) c.*395C>G (n.*395C>G) c.358C>G (p.Gln120Glu) c.334C>G (p.Gln112Glu) n.318+3137C>G c.133C>G (p.Gln45Glu) | |
15 | g.58010721G>T | CA392790166 | ALDH1A2 | c.421C>A (p.Gln141Lys) c.*395C>A (n.*395C>A) c.358C>A (p.Gln120Lys) c.334C>A (p.Gln112Lys) n.318+3137C>A c.133C>A (p.Gln45Lys) | |
15 | g.58010722C>A | CA392790170 | ALDH1A2 | c.420G>T (p.Leu140Phe) c.*394G>T (n.*394G>T) c.357G>T (p.Leu119Phe) c.333G>T (p.Leu111Phe) n.318+3136G>T c.132G>T (p.Leu44Phe) | |
15 | g.58010722C>G | CA392790169 | ALDH1A2 | c.420G>C (p.Leu140Phe) c.*394G>C (n.*394G>C) c.357G>C (p.Leu119Phe) c.333G>C (p.Leu111Phe) n.318+3136G>C c.132G>C (p.Leu44Phe) | |
15 | g.58010722C>T | CA490587279 | ALDH1A2 | c.420G>A (p.Leu140=) c.*394G>A (n.*394G>A) c.357G>A (p.Leu119=) c.333G>A (p.Leu111=) n.318+3136G>A c.132G>A (p.Leu44=) | |
15 | g.58010723A>C | CA392790171 | ALDH1A2 | c.419T>G (p.Leu140Trp) c.*393T>G (n.*393T>G) c.356T>G (p.Leu119Trp) c.332T>G (p.Leu111Trp) n.318+3135T>G c.131T>G (p.Leu44Trp) | |
15 | g.58010723A>G | CA392790172 | ALDH1A2 | c.419T>C (p.Leu140Ser) c.*393T>C (n.*393T>C) c.356T>C (p.Leu119Ser) c.332T>C (p.Leu111Ser) n.318+3135T>C c.131T>C (p.Leu44Ser) | |
15 | g.58010723A>T | CA392790173 | ALDH1A2 | c.419T>A (p.Leu140Ter) c.*393T>A (n.*393T>A) c.356T>A (p.Leu119Ter) c.332T>A (p.Leu111Ter) n.318+3135T>A c.131T>A (p.Leu44Ter) | |
15 | g.58010724A>C | CA392790174 | ALDH1A2 | c.418T>G (p.Leu140Val) c.*392T>G (n.*392T>G) c.355T>G (p.Leu119Val) c.331T>G (p.Leu111Val) n.318+3134T>G c.130T>G (p.Leu44Val) | |
15 | g.58010724A>G | CA490587282 | ALDH1A2 | c.418T>C (p.Leu140=) c.*392T>C (n.*392T>C) c.355T>C (p.Leu119=) c.331T>C (p.Leu111=) n.318+3134T>C c.130T>C (p.Leu44=) | |
15 | g.58010724A>T | CA392790175 | ALDH1A2 | c.418T>A (p.Leu140Met) c.*392T>A (n.*392T>A) c.355T>A (p.Leu119Met) c.331T>A (p.Leu111Met) n.318+3134T>A c.130T>A (p.Leu44Met) | |
15 | g.58010725A= | CA2180114128 | ALDH1A2 | c.417T= (p.Asp139=) c.*391T= (n.*391T=) c.354T= (p.Asp118=) c.330T= (p.Asp110=) n.318+3133T= c.129T= (p.Asp43=) | |
15 | g.58010725A>C | CA392790177 | ALDH1A2 | c.417T>G (p.Asp139Glu) c.*391T>G (n.*391T>G) c.354T>G (p.Asp118Glu) c.330T>G (p.Asp110Glu) n.318+3133T>G c.129T>G (p.Asp43Glu) | |
15 | g.58010725A>G | CA490587283 | ALDH1A2 | c.417T>C (p.Asp139=) c.*391T>C (n.*391T>C) c.354T>C (p.Asp118=) c.330T>C (p.Asp110=) n.318+3133T>C c.129T>C (p.Asp43=) | |
15 | g.58010725A>T | CA392790176 | ALDH1A2 | c.417T>A (p.Asp139Glu) c.*391T>A (n.*391T>A) c.354T>A (p.Asp118Glu) c.330T>A (p.Asp110Glu) n.318+3133T>A c.129T>A (p.Asp43Glu) | dbSNP |
15 | g.58010726T>A | CA392790178 | ALDH1A2 | c.416A>T (p.Asp139Val) c.*390A>T (n.*390A>T) c.353A>T (p.Asp118Val) c.329A>T (p.Asp110Val) n.318+3132A>T c.128A>T (p.Asp43Val) | |
15 | g.58010726T>C | CA392790179 | ALDH1A2 | c.416A>G (p.Asp139Gly) c.*390A>G (n.*390A>G) c.353A>G (p.Asp118Gly) c.329A>G (p.Asp110Gly) n.318+3132A>G c.128A>G (p.Asp43Gly) | |
15 | g.58010726T>G | CA392790180 | ALDH1A2 | c.416A>C (p.Asp139Ala) c.*390A>C (n.*390A>C) c.353A>C (p.Asp118Ala) c.329A>C (p.Asp110Ala) n.318+3132A>C c.128A>C (p.Asp43Ala) | |
15 | g.58010727C>A | CA392790181 | ALDH1A2 | c.415G>T (p.Asp139Tyr) c.*389G>T (n.*389G>T) c.352G>T (p.Asp118Tyr) c.328G>T (p.Asp110Tyr) n.318+3131G>T c.127G>T (p.Asp43Tyr) | |
15 | g.58010727C>G | CA392790182 | ALDH1A2 | c.415G>C (p.Asp139His) c.*389G>C (n.*389G>C) c.352G>C (p.Asp118His) c.328G>C (p.Asp110His) n.318+3131G>C c.127G>C (p.Asp43His) | |
15 | g.58010727C>T | CA392790183 | ALDH1A2 | c.415G>A (p.Asp139Asn) c.*389G>A (n.*389G>A) c.352G>A (p.Asp118Asn) c.328G>A (p.Asp110Asn) n.318+3131G>A c.127G>A (p.Asp43Asn) | gnomAD v4 |
15 | g.58010728C>A | CA490587286 | ALDH1A2 | c.414G>T (p.Val138=) c.*388G>T (n.*388G>T) c.351G>T (p.Val117=) c.327G>T (p.Val109=) n.318+3130G>T c.126G>T (p.Val42=) | |
15 | g.58010728C>G | CA490587285 | ALDH1A2 | c.414G>C (p.Val138=) c.*388G>C (n.*388G>C) c.351G>C (p.Val117=) c.327G>C (p.Val109=) n.318+3130G>C c.126G>C (p.Val42=) | |
15 | g.58010728C>T | CA490587284 | ALDH1A2 | c.414G>A (p.Val138=) c.*388G>A (n.*388G>A) c.351G>A (p.Val117=) c.327G>A (p.Val109=) n.318+3130G>A c.126G>A (p.Val42=) | COSMIC |
15 | g.58010729A>C | CA392790186 | ALDH1A2 | c.413T>G (p.Val138Gly) c.*387T>G (n.*387T>G) c.350T>G (p.Val117Gly) c.326T>G (p.Val109Gly) n.318+3129T>G c.125T>G (p.Val42Gly) | |
15 | g.58010729A>G | CA392790184 | ALDH1A2 | c.413T>C (p.Val138Ala) c.*387T>C (n.*387T>C) c.350T>C (p.Val117Ala) c.326T>C (p.Val109Ala) n.318+3129T>C c.125T>C (p.Val42Ala) | gnomAD v4 |
15 | g.58010729A>T | CA392790185 | ALDH1A2 | c.413T>A (p.Val138Glu) c.*387T>A (n.*387T>A) c.350T>A (p.Val117Glu) c.326T>A (p.Val109Glu) n.318+3129T>A c.125T>A (p.Val42Glu) | |
15 | g.58010730C>A | CA392790187 | ALDH1A2 | c.412G>T (p.Val138Leu) c.*386G>T (n.*386G>T) c.349G>T (p.Val117Leu) c.325G>T (p.Val109Leu) n.318+3128G>T c.124G>T (p.Val42Leu) | |
15 | g.58010730C>G | CA392790188 | ALDH1A2 | c.412G>C (p.Val138Leu) c.*386G>C (n.*386G>C) c.349G>C (p.Val117Leu) c.325G>C (p.Val109Leu) n.318+3128G>C c.124G>C (p.Val42Leu) | |
15 | g.58010730C>T | CA392790189 | ALDH1A2 | c.412G>A (p.Val138Met) c.*386G>A (n.*386G>A) c.349G>A (p.Val117Met) c.325G>A (p.Val109Met) n.318+3128G>A c.124G>A (p.Val42Met) | |
15 | g.58010731A>C | CA392790190 | ALDH1A2 | c.411T>G (p.Tyr137Ter) c.*385T>G (n.*385T>G) c.348T>G (p.Tyr116Ter) c.324T>G (p.Tyr108Ter) n.318+3127T>G c.123T>G (p.Tyr41Ter) | |
15 | g.58010731A>G | CA490587287 | ALDH1A2 | c.411T>C (p.Tyr137=) c.*385T>C (n.*385T>C) c.348T>C (p.Tyr116=) c.324T>C (p.Tyr108=) n.318+3127T>C c.123T>C (p.Tyr41=) | |
15 | g.58010731A>T | CA392790191 | ALDH1A2 | c.411T>A (p.Tyr137Ter) c.*385T>A (n.*385T>A) c.348T>A (p.Tyr116Ter) c.324T>A (p.Tyr108Ter) n.318+3127T>A c.123T>A (p.Tyr41Ter) | |
15 | g.58010732T>A | CA392790192 | ALDH1A2 | c.410A>T (p.Tyr137Phe) c.*384A>T (n.*384A>T) c.347A>T (p.Tyr116Phe) c.323A>T (p.Tyr108Phe) n.318+3126A>T c.122A>T (p.Tyr41Phe) | |
15 | g.58010732T>C | CA7584095 | ALDH1A2 | c.410A>G (p.Tyr137Cys) c.*384A>G (n.*384A>G) c.347A>G (p.Tyr116Cys) c.323A>G (p.Tyr108Cys) n.318+3126A>G c.122A>G (p.Tyr41Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.58010732T>G | CA392790193 | ALDH1A2 | c.410A>C (p.Tyr137Ser) c.*384A>C (n.*384A>C) c.347A>C (p.Tyr116Ser) c.323A>C (p.Tyr108Ser) n.318+3126A>C c.122A>C (p.Tyr41Ser) | |
15 | g.58010732T= | CA2180114132 | ALDH1A2 | c.410A= (p.Tyr137=) c.*384A= (n.*384A=) c.347A= (p.Tyr116=) c.323A= (p.Tyr108=) n.318+3126A= c.122A= (p.Tyr41=) | |
15 | g.58010733A= | CA2180114138 | ALDH1A2 | c.409T= (p.Tyr137=) c.*383T= (n.*383T=) c.346T= (p.Tyr116=) c.322T= (p.Tyr108=) n.318+3125T= c.121T= (p.Tyr41=) | |
15 | g.58010733A>C | CA392790194 | ALDH1A2 | c.409T>G (p.Tyr137Asp) c.*383T>G (n.*383T>G) c.346T>G (p.Tyr116Asp) c.322T>G (p.Tyr108Asp) n.318+3125T>G c.121T>G (p.Tyr41Asp) | |
15 | g.58010733A>G | CA392790195 | ALDH1A2 | c.409T>C (p.Tyr137His) c.*383T>C (n.*383T>C) c.346T>C (p.Tyr116His) c.322T>C (p.Tyr108His) n.318+3125T>C c.121T>C (p.Tyr41His) | dbSNP gnomAD v4 |
15 | g.58010733A>T | CA392790196 | ALDH1A2 | c.409T>A (p.Tyr137Asn) c.*383T>A (n.*383T>A) c.346T>A (p.Tyr116Asn) c.322T>A (p.Tyr108Asn) n.318+3125T>A c.121T>A (p.Tyr41Asn) | |
15 | g.58010734A= | CA2180114142 | ALDH1A2 | c.408T= (p.Phe136=) c.*382T= (n.*382T=) c.345T= (p.Phe115=) c.321T= (p.Phe107=) n.318+3124T= c.120T= (p.Phe40=) | |
15 | g.58010734A>C | CA392790197 | ALDH1A2 | c.408T>G (p.Phe136Leu) c.*382T>G (n.*382T>G) c.345T>G (p.Phe115Leu) c.321T>G (p.Phe107Leu) n.318+3124T>G c.120T>G (p.Phe40Leu) | |
15 | g.58010734A>G | CA490587289 | ALDH1A2 | c.408T>C (p.Phe136=) c.*382T>C (n.*382T>C) c.345T>C (p.Phe115=) c.321T>C (p.Phe107=) n.318+3124T>C c.120T>C (p.Phe40=) | |
15 | g.58010734A>T | CA392790198 | ALDH1A2 | c.408T>A (p.Phe136Leu) c.*382T>A (n.*382T>A) c.345T>A (p.Phe115Leu) c.321T>A (p.Phe107Leu) n.318+3124T>A c.120T>A (p.Phe40Leu) | dbSNP |
15 | g.58010735A>C | CA392790201 | ALDH1A2 | c.407T>G (p.Phe136Cys) c.*381T>G (n.*381T>G) c.344T>G (p.Phe115Cys) c.320T>G (p.Phe107Cys) n.318+3123T>G c.119T>G (p.Phe40Cys) | |
15 | g.58010735A>G | CA392790199 | ALDH1A2 | c.407T>C (p.Phe136Ser) c.*381T>C (n.*381T>C) c.344T>C (p.Phe115Ser) c.320T>C (p.Phe107Ser) n.318+3123T>C c.119T>C (p.Phe40Ser) | |
15 | g.58010735A>T | CA392790200 | ALDH1A2 | c.407T>A (p.Phe136Tyr) c.*381T>A (n.*381T>A) c.344T>A (p.Phe115Tyr) c.320T>A (p.Phe107Tyr) n.318+3123T>A c.119T>A (p.Phe40Tyr) | |
15 | g.58010736A>C | CA392790202 | ALDH1A2 | c.406T>G (p.Phe136Val) c.*380T>G (n.*380T>G) c.343T>G (p.Phe115Val) c.319T>G (p.Phe107Val) n.318+3122T>G c.118T>G (p.Phe40Val) | |
15 | g.58010736A>G | CA392790203 | ALDH1A2 | c.406T>C (p.Phe136Leu) c.*380T>C (n.*380T>C) c.343T>C (p.Phe115Leu) c.319T>C (p.Phe107Leu) n.318+3122T>C c.118T>C (p.Phe40Leu) | |
15 | g.58010736A>T | CA392790204 | ALDH1A2 | c.406T>A (p.Phe136Ile) c.*380T>A (n.*380T>A) c.343T>A (p.Phe115Ile) c.319T>A (p.Phe107Ile) n.318+3122T>A c.118T>A (p.Phe40Ile) | |
15 | g.58010737A>C | CA490587290 | ALDH1A2 | c.405T>G (p.Ala135=) c.*379T>G (n.*379T>G) c.342T>G (p.Ala114=) c.318T>G (p.Ala106=) n.318+3121T>G c.117T>G (p.Ala39=) | |
15 | g.58010737A>G | CA490587291 | ALDH1A2 | c.405T>C (p.Ala135=) c.*379T>C (n.*379T>C) c.342T>C (p.Ala114=) c.318T>C (p.Ala106=) n.318+3121T>C c.117T>C (p.Ala39=) | |
15 | g.58010737A>T | CA490587292 | ALDH1A2 | c.405T>A (p.Ala135=) c.*379T>A (n.*379T>A) c.342T>A (p.Ala114=) c.318T>A (p.Ala106=) n.318+3121T>A c.117T>A (p.Ala39=) | |
15 | g.58010738G>A | CA7584096 | ALDH1A2 | c.404C>T (p.Ala135Val) c.*378C>T (n.*378C>T) c.341C>T (p.Ala114Val) c.317C>T (p.Ala106Val) n.318+3120C>T c.116C>T (p.Ala39Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010738G>C | CA392790205 | ALDH1A2 | c.404C>G (p.Ala135Gly) c.*378C>G (n.*378C>G) c.341C>G (p.Ala114Gly) c.317C>G (p.Ala106Gly) n.318+3120C>G c.116C>G (p.Ala39Gly) | gnomAD v4 |
15 | g.58010738G= | CA2180114145 | ALDH1A2 | c.404C= (p.Ala135=) c.*378C= (n.*378C=) c.341C= (p.Ala114=) c.317C= (p.Ala106=) n.318+3120C= c.116C= (p.Ala39=) | |
15 | g.58010738G>T | CA392790206 | ALDH1A2 | c.404C>A (p.Ala135Asp) c.*378C>A (n.*378C>A) c.341C>A (p.Ala114Asp) c.317C>A (p.Ala106Asp) n.318+3120C>A c.116C>A (p.Ala39Asp) | |
15 | g.58010739C>A | CA392790209 | ALDH1A2 | c.403G>T (p.Ala135Ser) c.*377G>T (n.*377G>T) c.340G>T (p.Ala114Ser) c.316G>T (p.Ala106Ser) n.318+3119G>T c.115G>T (p.Ala39Ser) | gnomAD v4 |
15 | g.58010739C>G | CA392790207 | ALDH1A2 | c.403G>C (p.Ala135Pro) c.*377G>C (n.*377G>C) c.340G>C (p.Ala114Pro) c.316G>C (p.Ala106Pro) n.318+3119G>C c.115G>C (p.Ala39Pro) | |
15 | g.58010739C>T | CA392790208 | ALDH1A2 | c.403G>A (p.Ala135Thr) c.*377G>A (n.*377G>A) c.340G>A (p.Ala114Thr) c.316G>A (p.Ala106Thr) n.318+3119G>A c.115G>A (p.Ala39Thr) | |
15 | g.58010740T>A | CA392790210 | ALDH1A2 | c.402A>T (p.Gln134His) c.*376A>T (n.*376A>T) c.339A>T (p.Gln113His) c.315A>T (p.Gln105His) n.318+3118A>T c.114A>T (p.Gln38His) | |
15 | g.58010740T>C | CA490587295 | ALDH1A2 | c.402A>G (p.Gln134=) c.*376A>G (n.*376A>G) c.339A>G (p.Gln113=) c.315A>G (p.Gln105=) n.318+3118A>G c.114A>G (p.Gln38=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010740T>G | CA392790211 | ALDH1A2 | c.402A>C (p.Gln134His) c.*376A>C (n.*376A>C) c.339A>C (p.Gln113His) c.315A>C (p.Gln105His) n.318+3118A>C c.114A>C (p.Gln38His) | |
15 | g.58010740T= | CA2180114150 | ALDH1A2 | c.402A= (p.Gln134=) c.*376A= (n.*376A=) c.339A= (p.Gln113=) c.315A= (p.Gln105=) n.318+3118A= c.114A= (p.Gln38=) | |
15 | g.58010741T>A | CA392790212 | ALDH1A2 | c.401A>T (p.Gln134Leu) c.*375A>T (n.*375A>T) c.338A>T (p.Gln113Leu) c.314A>T (p.Gln105Leu) n.318+3117A>T c.113A>T (p.Gln38Leu) | |
15 | g.58010741T>C | CA392790213 | ALDH1A2 | c.401A>G (p.Gln134Arg) c.*375A>G (n.*375A>G) c.338A>G (p.Gln113Arg) c.314A>G (p.Gln105Arg) n.318+3117A>G c.113A>G (p.Gln38Arg) | |
15 | g.58010741T>G | CA392790214 | ALDH1A2 | c.401A>C (p.Gln134Pro) c.*375A>C (n.*375A>C) c.338A>C (p.Gln113Pro) c.314A>C (p.Gln105Pro) n.318+3117A>C c.113A>C (p.Gln38Pro) | |
15 | g.58010742G>A | CA392790216 | ALDH1A2 | c.400C>T (p.Gln134Ter) c.*374C>T (n.*374C>T) c.337C>T (p.Gln113Ter) c.313C>T (p.Gln105Ter) n.318+3116C>T c.112C>T (p.Gln38Ter) | gnomAD v4 |
15 | g.58010742G>C | CA7584097 | ALDH1A2 | c.400C>G (p.Gln134Glu) c.*374C>G (n.*374C>G) c.337C>G (p.Gln113Glu) c.313C>G (p.Gln105Glu) n.318+3116C>G c.112C>G (p.Gln38Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010742G= | CA2180114152 | ALDH1A2 | c.400C= (p.Gln134=) c.*374C= (n.*374C=) c.337C= (p.Gln113=) c.313C= (p.Gln105=) n.318+3116C= c.112C= (p.Gln38=) | |
15 | g.58010742G>T | CA392790215 | ALDH1A2 | c.400C>A (p.Gln134Lys) c.*374C>A (n.*374C>A) c.337C>A (p.Gln113Lys) c.313C>A (p.Gln105Lys) n.318+3116C>A c.112C>A (p.Gln38Lys) | gnomAD v4 |
15 | g.58010743C>A | CA490587297 | ALDH1A2 | c.399G>T (p.Leu133=) c.*373G>T (n.*373G>T) c.336G>T (p.Leu112=) c.312G>T (p.Leu104=) n.318+3115G>T c.111G>T (p.Leu37=) | |
15 | g.58010743C= | CA2180114155 | ALDH1A2 | c.399G= (p.Leu133=) c.*373G= (n.*373G=) c.336G= (p.Leu112=) c.312G= (p.Leu104=) n.318+3115G= c.111G= (p.Leu37=) | |
15 | g.58010743C>G | CA7584098 | ALDH1A2 | c.399G>C (p.Leu133=) c.*373G>C (n.*373G>C) c.336G>C (p.Leu112=) c.312G>C (p.Leu104=) n.318+3115G>C c.111G>C (p.Leu37=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010743C>T | CA490587298 | ALDH1A2 | c.399G>A (p.Leu133=) c.*373G>A (n.*373G>A) c.336G>A (p.Leu112=) c.312G>A (p.Leu104=) n.318+3115G>A c.111G>A (p.Leu37=) | gnomAD v4 |
15 | g.58010744A= | CA2180114156 | ALDH1A2 | c.398T= (p.Leu133=) c.*372T= (n.*372T=) c.335T= (p.Leu112=) c.311T= (p.Leu104=) n.318+3114T= c.110T= (p.Leu37=) | |
15 | g.58010744A>C | CA392790217 | ALDH1A2 | c.398T>G (p.Leu133Arg) c.*372T>G (n.*372T>G) c.335T>G (p.Leu112Arg) c.311T>G (p.Leu104Arg) n.318+3114T>G c.110T>G (p.Leu37Arg) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010744A>G | CA392790218 | ALDH1A2 | c.398T>C (p.Leu133Pro) c.*372T>C (n.*372T>C) c.335T>C (p.Leu112Pro) c.311T>C (p.Leu104Pro) n.318+3114T>C c.110T>C (p.Leu37Pro) | |
15 | g.58010744A>T | CA392790219 | ALDH1A2 | c.398T>A (p.Leu133Gln) c.*372T>A (n.*372T>A) c.335T>A (p.Leu112Gln) c.311T>A (p.Leu104Gln) n.318+3114T>A c.110T>A (p.Leu37Gln) | |
15 | g.58010745G>A | CA490587299 | ALDH1A2 | c.397C>T (p.Leu133=) c.*371C>T (n.*371C>T) c.334C>T (p.Leu112=) c.310C>T (p.Leu104=) n.318+3113C>T c.109C>T (p.Leu37=) | |
15 | g.58010745G>C | CA392790220 | ALDH1A2 | c.397C>G (p.Leu133Val) c.*371C>G (n.*371C>G) c.334C>G (p.Leu112Val) c.310C>G (p.Leu104Val) n.318+3113C>G c.109C>G (p.Leu37Val) | |
15 | g.58010745G= | CA2180114159 | ALDH1A2 | c.397C= (p.Leu133=) c.*371C= (n.*371C=) c.334C= (p.Leu112=) c.310C= (p.Leu104=) n.318+3113C= c.109C= (p.Leu37=) | |
15 | g.58010745G>T | CA392790221 | ALDH1A2 | c.397C>A (p.Leu133Met) c.*371C>A (n.*371C>A) c.334C>A (p.Leu112Met) c.310C>A (p.Leu104Met) n.318+3113C>A c.109C>A (p.Leu37Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
15 | g.58010746G>A | CA7584099 | ALDH1A2 | c.396C>T (p.Phe132=) c.*370C>T (n.*370C>T) c.333C>T (p.Phe111=) c.309C>T (p.Phe103=) n.318+3112C>T c.108C>T (p.Phe36=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010746G>C | CA392790222 | ALDH1A2 | c.396C>G (p.Phe132Leu) c.*370C>G (n.*370C>G) c.333C>G (p.Phe111Leu) c.309C>G (p.Phe103Leu) n.318+3112C>G c.108C>G (p.Phe36Leu) | |
15 | g.58010746G= | CA2180114161 | ALDH1A2 | c.396C= (p.Phe132=) c.*370C= (n.*370C=) c.333C= (p.Phe111=) c.309C= (p.Phe103=) n.318+3112C= c.108C= (p.Phe36=) | |
15 | g.58010746G>T | CA392790223 | ALDH1A2 | c.396C>A (p.Phe132Leu) c.*370C>A (n.*370C>A) c.333C>A (p.Phe111Leu) c.309C>A (p.Phe103Leu) n.318+3112C>A c.108C>A (p.Phe36Leu) | |
15 | g.58010747A>C | CA392790224 | ALDH1A2 | c.395T>G (p.Phe132Cys) c.*369T>G (n.*369T>G) c.332T>G (p.Phe111Cys) c.308T>G (p.Phe103Cys) n.318+3111T>G c.107T>G (p.Phe36Cys) | |
15 | g.58010747A>G | CA392790225 | ALDH1A2 | c.395T>C (p.Phe132Ser) c.*369T>C (n.*369T>C) c.332T>C (p.Phe111Ser) c.308T>C (p.Phe103Ser) n.318+3111T>C c.107T>C (p.Phe36Ser) | |
15 | g.58010747A>T | CA392790226 | ALDH1A2 | c.395T>A (p.Phe132Tyr) c.*369T>A (n.*369T>A) c.332T>A (p.Phe111Tyr) c.308T>A (p.Phe103Tyr) n.318+3111T>A c.107T>A (p.Phe36Tyr) | |
15 | g.58010748A>C | CA392790227 | ALDH1A2 | c.394T>G (p.Phe132Val) c.*368T>G (n.*368T>G) c.331T>G (p.Phe111Val) c.307T>G (p.Phe103Val) n.318+3110T>G c.106T>G (p.Phe36Val) | |
15 | g.58010748A>G | CA392790229 | ALDH1A2 | c.394T>C (p.Phe132Leu) c.*368T>C (n.*368T>C) c.331T>C (p.Phe111Leu) c.307T>C (p.Phe103Leu) n.318+3110T>C c.106T>C (p.Phe36Leu) | |
15 | g.58010748A>T | CA392790228 | ALDH1A2 | c.394T>A (p.Phe132Ile) c.*368T>A (n.*368T>A) c.331T>A (p.Phe111Ile) c.307T>A (p.Phe103Ile) n.318+3110T>A c.106T>A (p.Phe36Ile) | |
15 | g.58010749T>A | CA490587302 | ALDH1A2 | c.393A>T (p.Pro131=) c.*367A>T (n.*367A>T) c.330A>T (p.Pro110=) c.306A>T (p.Pro102=) n.318+3109A>T c.105A>T (p.Pro35=) | |
15 | g.58010749T>C | CA490587303 | ALDH1A2 | c.393A>G (p.Pro131=) c.*367A>G (n.*367A>G) c.330A>G (p.Pro110=) c.306A>G (p.Pro102=) n.318+3109A>G c.105A>G (p.Pro35=) | |
15 | g.58010749T>G | CA490587301 | ALDH1A2 | c.393A>C (p.Pro131=) c.*367A>C (n.*367A>C) c.330A>C (p.Pro110=) c.306A>C (p.Pro102=) n.318+3109A>C c.105A>C (p.Pro35=) | |
15 | g.58010750G>A | CA392790230 | ALDH1A2 | c.392C>T (p.Pro131Leu) c.*366C>T (n.*366C>T) c.329C>T (p.Pro110Leu) c.305C>T (p.Pro102Leu) n.318+3108C>T c.104C>T (p.Pro35Leu) | COSMIC |
15 | g.58010750G>C | CA392790232 | ALDH1A2 | c.392C>G (p.Pro131Arg) c.*366C>G (n.*366C>G) c.329C>G (p.Pro110Arg) c.305C>G (p.Pro102Arg) n.318+3108C>G c.104C>G (p.Pro35Arg) | |
15 | g.58010750G>T | CA392790231 | ALDH1A2 | c.392C>A (p.Pro131Gln) c.*366C>A (n.*366C>A) c.329C>A (p.Pro110Gln) c.305C>A (p.Pro102Gln) n.318+3108C>A c.104C>A (p.Pro35Gln) | |
15 | g.58010751G>A | CA392790233 | ALDH1A2 | c.391C>T (p.Pro131Ser) c.*365C>T (n.*365C>T) c.328C>T (p.Pro110Ser) c.304C>T (p.Pro102Ser) n.318+3107C>T c.103C>T (p.Pro35Ser) | |
15 | g.58010751G>C | CA392790234 | ALDH1A2 | c.391C>G (p.Pro131Ala) c.*365C>G (n.*365C>G) c.328C>G (p.Pro110Ala) c.304C>G (p.Pro102Ala) n.318+3107C>G c.103C>G (p.Pro35Ala) | gnomAD v4 |
15 | g.58010751G>T | CA392790235 | ALDH1A2 | c.391C>A (p.Pro131Thr) c.*365C>A (n.*365C>A) c.328C>A (p.Pro110Thr) c.304C>A (p.Pro102Thr) n.318+3107C>A c.103C>A (p.Pro35Thr) | |
15 | g.58010752T>A | CA392790236 | ALDH1A2 | c.390A>T (p.Lys130Asn) c.*364A>T (n.*364A>T) c.327A>T (p.Lys109Asn) c.303A>T (p.Lys101Asn) n.318+3106A>T c.102A>T (p.Lys34Asn) | |
15 | g.58010752T>C | CA490587304 | ALDH1A2 | c.390A>G (p.Lys130=) c.*364A>G (n.*364A>G) c.327A>G (p.Lys109=) c.303A>G (p.Lys101=) n.318+3106A>G c.102A>G (p.Lys34=) | |
15 | g.58010752T>G | CA392790237 | ALDH1A2 | c.390A>C (p.Lys130Asn) c.*364A>C (n.*364A>C) c.327A>C (p.Lys109Asn) c.303A>C (p.Lys101Asn) n.318+3106A>C c.102A>C (p.Lys34Asn) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010752T= | CA2180114164 | ALDH1A2 | c.390A= (p.Lys130=) c.*364A= (n.*364A=) c.327A= (p.Lys109=) c.303A= (p.Lys101=) n.318+3106A= c.102A= (p.Lys34=) | |
15 | g.58010753T>A | CA392790238 | ALDH1A2 | c.389A>T (p.Lys130Ile) c.*363A>T (n.*363A>T) c.326A>T (p.Lys109Ile) c.302A>T (p.Lys101Ile) n.318+3105A>T c.101A>T (p.Lys34Ile) | |
15 | g.58010753T>C | CA392790239 | ALDH1A2 | c.389A>G (p.Lys130Arg) c.*363A>G (n.*363A>G) c.326A>G (p.Lys109Arg) c.302A>G (p.Lys101Arg) n.318+3105A>G c.101A>G (p.Lys34Arg) | dbSNP gnomAD v4 |
15 | g.58010753T>G | CA392790240 | ALDH1A2 | c.389A>C (p.Lys130Thr) c.*363A>C (n.*363A>C) c.326A>C (p.Lys109Thr) c.302A>C (p.Lys101Thr) n.318+3105A>C c.101A>C (p.Lys34Thr) | gnomAD v4 |
15 | g.58010753T= | CA2180114168 | ALDH1A2 | c.389A= (p.Lys130=) c.*363A= (n.*363A=) c.326A= (p.Lys109=) c.302A= (p.Lys101=) n.318+3105A= c.101A= (p.Lys34=) | |
15 | g.58010754T>A | CA392790241 | ALDH1A2 | c.388A>T (p.Lys130Ter) c.*362A>T (n.*362A>T) c.325A>T (p.Lys109Ter) c.301A>T (p.Lys101Ter) n.318+3104A>T c.100A>T (p.Lys34Ter) | |
15 | g.58010754T>C | CA392790242 | ALDH1A2 | c.388A>G (p.Lys130Glu) c.*362A>G (n.*362A>G) c.325A>G (p.Lys109Glu) c.301A>G (p.Lys101Glu) n.318+3104A>G c.100A>G (p.Lys34Glu) | |
15 | g.58010754T>G | CA392790243 | ALDH1A2 | c.388A>C (p.Lys130Gln) c.*362A>C (n.*362A>C) c.325A>C (p.Lys109Gln) c.301A>C (p.Lys101Gln) n.318+3104A>C c.100A>C (p.Lys34Gln) | |
15 | g.58010755G>A | CA490587308 | ALDH1A2 | c.387C>T (p.Gly129=) c.*361C>T (n.*361C>T) c.324C>T (p.Gly108=) c.300C>T (p.Gly100=) n.318+3103C>T c.99C>T (p.Gly33=) | |
15 | g.58010755G>C | CA490587306 | ALDH1A2 | c.387C>G (p.Gly129=) c.*361C>G (n.*361C>G) c.324C>G (p.Gly108=) c.300C>G (p.Gly100=) n.318+3103C>G c.99C>G (p.Gly33=) | |
15 | g.58010755G>T | CA490587307 | ALDH1A2 | c.387C>A (p.Gly129=) c.*361C>A (n.*361C>A) c.324C>A (p.Gly108=) c.300C>A (p.Gly100=) n.318+3103C>A c.99C>A (p.Gly33=) | |
15 | g.58010756C>A | CA392790246 | ALDH1A2 | c.386G>T (p.Gly129Val) c.*360G>T (n.*360G>T) c.323G>T (p.Gly108Val) c.299G>T (p.Gly100Val) n.318+3102G>T c.98G>T (p.Gly33Val) | |
15 | g.58010756C>G | CA392790244 | ALDH1A2 | c.386G>C (p.Gly129Ala) c.*360G>C (n.*360G>C) c.323G>C (p.Gly108Ala) c.299G>C (p.Gly100Ala) n.318+3102G>C c.98G>C (p.Gly33Ala) | |
15 | g.58010756C>T | CA392790245 | ALDH1A2 | c.386G>A (p.Gly129Asp) c.*360G>A (n.*360G>A) c.323G>A (p.Gly108Asp) c.299G>A (p.Gly100Asp) n.318+3102G>A c.98G>A (p.Gly33Asp) | COSMIC |
15 | g.58010757del | CA2628668933 | ALDH1A2 | c.386del (p.Gly129AlafsTer?) c.*360del (n.*360del) c.323del (p.Gly108AlafsTer?) c.299del (p.Gly100AlafsTer?) n.318+3102del c.98del (p.Gly33AlafsTer?) | gnomAD v4 |
15 | g.58010757C>A | CA392790247 | ALDH1A2 | c.385G>T (p.Gly129Cys) c.*359G>T (n.*359G>T) c.322G>T (p.Gly108Cys) c.298G>T (p.Gly100Cys) n.318+3101G>T c.97G>T (p.Gly33Cys) | |
15 | g.58010757C>G | CA392790248 | ALDH1A2 | c.385G>C (p.Gly129Arg) c.*359G>C (n.*359G>C) c.322G>C (p.Gly108Arg) c.298G>C (p.Gly100Arg) n.318+3101G>C c.97G>C (p.Gly33Arg) | gnomAD v4 |
15 | g.58010757C>T | CA392790249 | ALDH1A2 | c.385G>A (p.Gly129Ser) c.*359G>A (n.*359G>A) c.322G>A (p.Gly108Ser) c.298G>A (p.Gly100Ser) n.318+3101G>A c.97G>A (p.Gly33Ser) | gnomAD v4 |
15 | g.58010758A= | CA2180114171 | ALDH1A2 | c.384T= (p.Gly128=) c.*358T= (n.*358T=) c.321T= (p.Gly107=) c.297T= (p.Gly99=) n.318+3100T= c.96T= (p.Gly32=) | |
15 | g.58010758A>C | CA490587309 | ALDH1A2 | c.384T>G (p.Gly128=) c.*358T>G (n.*358T>G) c.321T>G (p.Gly107=) c.297T>G (p.Gly99=) n.318+3100T>G c.96T>G (p.Gly32=) | dbSNP gnomAD v4 |
15 | g.58010758A>G | CA490587310 | ALDH1A2 | c.384T>C (p.Gly128=) c.*358T>C (n.*358T>C) c.321T>C (p.Gly107=) c.297T>C (p.Gly99=) n.318+3100T>C c.96T>C (p.Gly32=) | |
15 | g.58010758A>T | CA490587311 | ALDH1A2 | c.384T>A (p.Gly128=) c.*358T>A (n.*358T>A) c.321T>A (p.Gly107=) c.297T>A (p.Gly99=) n.318+3100T>A c.96T>A (p.Gly32=) | |
15 | g.58010759C>A | CA392790250 | ALDH1A2 | c.383G>T (p.Gly128Val) c.*357G>T (n.*357G>T) c.320G>T (p.Gly107Val) c.296G>T (p.Gly99Val) n.318+3099G>T c.95G>T (p.Gly32Val) | |
15 | g.58010759C>G | CA392790251 | ALDH1A2 | c.383G>C (p.Gly128Ala) c.*357G>C (n.*357G>C) c.320G>C (p.Gly107Ala) c.296G>C (p.Gly99Ala) n.318+3099G>C c.95G>C (p.Gly32Ala) | |
15 | g.58010759C>T | CA392790252 | ALDH1A2 | c.383G>A (p.Gly128Asp) c.*357G>A (n.*357G>A) c.320G>A (p.Gly107Asp) c.296G>A (p.Gly99Asp) n.318+3099G>A c.95G>A (p.Gly32Asp) | |
15 | g.58010760C>A | CA392790253 | ALDH1A2 | c.382G>T (p.Gly128Cys) c.*356G>T (n.*356G>T) c.319G>T (p.Gly107Cys) c.295G>T (p.Gly99Cys) n.318+3098G>T c.94G>T (p.Gly32Cys) | |
15 | g.58010760C= | CA2180114176 | ALDH1A2 | c.382G= (p.Gly128=) c.*356G= (n.*356G=) c.319G= (p.Gly107=) c.295G= (p.Gly99=) n.318+3098G= c.94G= (p.Gly32=) | |
15 | g.58010760C>G | CA392790254 | ALDH1A2 | c.382G>C (p.Gly128Arg) c.*356G>C (n.*356G>C) c.319G>C (p.Gly107Arg) c.295G>C (p.Gly99Arg) n.318+3098G>C c.94G>C (p.Gly32Arg) | |
15 | g.58010760C>T | CA392790255 | ALDH1A2 | c.382G>A (p.Gly128Ser) c.*356G>A (n.*356G>A) c.319G>A (p.Gly107Ser) c.295G>A (p.Gly99Ser) n.318+3098G>A c.94G>A (p.Gly32Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010761A>C | CA392790256 | ALDH1A2 | c.381T>G (p.Asn127Lys) c.*355T>G (n.*355T>G) c.318T>G (p.Asn106Lys) c.294T>G (p.Asn98Lys) n.318+3097T>G c.93T>G (p.Asn31Lys) | |
15 | g.58010761A>G | CA490587313 | ALDH1A2 | c.381T>C (p.Asn127=) c.*355T>C (n.*355T>C) c.318T>C (p.Asn106=) c.294T>C (p.Asn98=) n.318+3097T>C c.93T>C (p.Asn31=) | |
15 | g.58010761A>T | CA392790257 | ALDH1A2 | c.381T>A (p.Asn127Lys) c.*355T>A (n.*355T>A) c.318T>A (p.Asn106Lys) c.294T>A (p.Asn98Lys) n.318+3097T>A c.93T>A (p.Asn31Lys) | |
15 | g.58010762T>A | CA392790259 | ALDH1A2 | c.380A>T (p.Asn127Ile) c.*354A>T (n.*354A>T) c.317A>T (p.Asn106Ile) c.293A>T (p.Asn98Ile) n.318+3096A>T c.92A>T (p.Asn31Ile) | |
15 | g.58010762T>C | CA392790260 | ALDH1A2 | c.380A>G (p.Asn127Ser) c.*354A>G (n.*354A>G) c.317A>G (p.Asn106Ser) c.293A>G (p.Asn98Ser) n.318+3096A>G c.92A>G (p.Asn31Ser) | |
15 | g.58010762T>G | CA392790258 | ALDH1A2 | c.380A>C (p.Asn127Thr) c.*354A>C (n.*354A>C) c.317A>C (p.Asn106Thr) c.293A>C (p.Asn98Thr) n.318+3096A>C c.92A>C (p.Asn31Thr) | |
15 | g.58010763T>A | CA392790261 | ALDH1A2 | c.379A>T (p.Asn127Tyr) c.*353A>T (n.*353A>T) c.316A>T (p.Asn106Tyr) c.292A>T (p.Asn98Tyr) n.318+3095A>T c.91A>T (p.Asn31Tyr) | |
15 | g.58010763T>C | CA392790262 | ALDH1A2 | c.379A>G (p.Asn127Asp) c.*353A>G (n.*353A>G) c.316A>G (p.Asn106Asp) c.292A>G (p.Asn98Asp) n.318+3095A>G c.91A>G (p.Asn31Asp) | |
15 | g.58010763T>G | CA392790263 | ALDH1A2 | c.379A>C (p.Asn127His) c.*353A>C (n.*353A>C) c.316A>C (p.Asn106His) c.292A>C (p.Asn98His) n.318+3095A>C c.91A>C (p.Asn31His) | |
15 | g.58010764T>A | CA490587314 | ALDH1A2 | c.378A>T (p.Leu126=) c.*352A>T (n.*352A>T) c.315A>T (p.Leu105=) c.291A>T (p.Leu97=) n.318+3094A>T c.90A>T (p.Leu30=) | |
15 | g.58010764T>C | CA490587315 | ALDH1A2 | c.378A>G (p.Leu126=) c.*352A>G (n.*352A>G) c.315A>G (p.Leu105=) c.291A>G (p.Leu97=) n.318+3094A>G c.90A>G (p.Leu30=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010764T>G | CA490587316 | ALDH1A2 | c.378A>C (p.Leu126=) c.*352A>C (n.*352A>C) c.315A>C (p.Leu105=) c.291A>C (p.Leu97=) n.318+3094A>C c.90A>C (p.Leu30=) | |
15 | g.58010764T= | CA2180114179 | ALDH1A2 | c.378A= (p.Leu126=) c.*352A= (n.*352A=) c.315A= (p.Leu105=) c.291A= (p.Leu97=) n.318+3094A= c.90A= (p.Leu30=) | |
15 | g.58010765A>C | CA392790264 | ALDH1A2 | c.377T>G (p.Leu126Arg) c.*351T>G (n.*351T>G) c.314T>G (p.Leu105Arg) c.290T>G (p.Leu97Arg) n.318+3093T>G c.89T>G (p.Leu30Arg) | |
15 | g.58010765A>G | CA392790265 | ALDH1A2 | c.377T>C (p.Leu126Pro) c.*351T>C (n.*351T>C) c.314T>C (p.Leu105Pro) c.290T>C (p.Leu97Pro) n.318+3093T>C c.89T>C (p.Leu30Pro) | |
15 | g.58010765A>T | CA392790266 | ALDH1A2 | c.377T>A (p.Leu126Gln) c.*351T>A (n.*351T>A) c.314T>A (p.Leu105Gln) c.290T>A (p.Leu97Gln) n.318+3093T>A c.89T>A (p.Leu30Gln) | |
15 | g.58010766G>A | CA490587318 | ALDH1A2 | c.376C>T (p.Leu126=) c.*350C>T (n.*350C>T) c.313C>T (p.Leu105=) c.289C>T (p.Leu97=) n.318+3092C>T c.88C>T (p.Leu30=) | |
15 | g.58010766G>C | CA392790268 | ALDH1A2 | c.376C>G (p.Leu126Val) c.*350C>G (n.*350C>G) c.313C>G (p.Leu105Val) c.289C>G (p.Leu97Val) n.318+3092C>G c.88C>G (p.Leu30Val) | |
15 | g.58010766G>T | CA392790267 | ALDH1A2 | c.376C>A (p.Leu126Ile) c.*350C>A (n.*350C>A) c.313C>A (p.Leu105Ile) c.289C>A (p.Leu97Ile) n.318+3092C>A c.88C>A (p.Leu30Ile) | |
15 | g.58010767G>A | CA490587319 | ALDH1A2 | c.375C>T (p.Ser125=) c.*349C>T (n.*349C>T) c.312C>T (p.Ser104=) c.288C>T (p.Ser96=) n.318+3091C>T c.87C>T (p.Ser29=) | gnomAD v4 |
15 | g.58010767G>C | CA490587320 | ALDH1A2 | c.375C>G (p.Ser125=) c.*349C>G (n.*349C>G) c.312C>G (p.Ser104=) c.288C>G (p.Ser96=) n.318+3091C>G c.87C>G (p.Ser29=) | |
15 | g.58010767G>T | CA490587321 | ALDH1A2 | c.375C>A (p.Ser125=) c.*349C>A (n.*349C>A) c.312C>A (p.Ser104=) c.288C>A (p.Ser96=) n.318+3091C>A c.87C>A (p.Ser29=) | |
15 | g.58010768G>A | CA392790269 | ALDH1A2 | c.374C>T (p.Ser125Phe) c.*348C>T (n.*348C>T) c.311C>T (p.Ser104Phe) c.287C>T (p.Ser96Phe) n.318+3090C>T c.86C>T (p.Ser29Phe) | |
15 | g.58010768G>C | CA392790270 | ALDH1A2 | c.374C>G (p.Ser125Cys) c.*348C>G (n.*348C>G) c.311C>G (p.Ser104Cys) c.287C>G (p.Ser96Cys) n.318+3090C>G c.86C>G (p.Ser29Cys) | |
15 | g.58010768G>T | CA392790271 | ALDH1A2 | c.374C>A (p.Ser125Tyr) c.*348C>A (n.*348C>A) c.311C>A (p.Ser104Tyr) c.287C>A (p.Ser96Tyr) n.318+3090C>A c.86C>A (p.Ser29Tyr) | gnomAD v4 |
15 | g.58010769A>C | CA392790272 | ALDH1A2 | c.373T>G (p.Ser125Ala) c.*347T>G (n.*347T>G) c.310T>G (p.Ser104Ala) c.286T>G (p.Ser96Ala) n.318+3089T>G c.85T>G (p.Ser29Ala) | |
15 | g.58010769A>G | CA392790273 | ALDH1A2 | c.373T>C (p.Ser125Pro) c.*347T>C (n.*347T>C) c.310T>C (p.Ser104Pro) c.286T>C (p.Ser96Pro) n.318+3089T>C c.85T>C (p.Ser29Pro) | |
15 | g.58010769A>T | CA392790274 | ALDH1A2 | c.373T>A (p.Ser125Thr) c.*347T>A (n.*347T>A) c.310T>A (p.Ser104Thr) c.286T>A (p.Ser96Thr) n.318+3089T>A c.85T>A (p.Ser29Thr) | |
15 | g.58010770T>A | CA392790275 | ALDH1A2 | c.372A>T (p.Glu124Asp) c.*346A>T (n.*346A>T) c.309A>T (p.Glu103Asp) c.285A>T (p.Glu95Asp) n.318+3088A>T c.84A>T (p.Glu28Asp) | |
15 | g.58010770T>C | CA7584100 | ALDH1A2 | c.372A>G (p.Glu124=) c.*346A>G (n.*346A>G) c.309A>G (p.Glu103=) c.285A>G (p.Glu95=) n.318+3088A>G c.84A>G (p.Glu28=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010770T>G | CA392790276 | ALDH1A2 | c.372A>C (p.Glu124Asp) c.*346A>C (n.*346A>C) c.309A>C (p.Glu103Asp) c.285A>C (p.Glu95Asp) n.318+3088A>C c.84A>C (p.Glu28Asp) | |
15 | g.58010770T= | CA2180114183 | ALDH1A2 | c.372A= (p.Glu124=) c.*346A= (n.*346A=) c.309A= (p.Glu103=) c.285A= (p.Glu95=) n.318+3088A= c.84A= (p.Glu28=) |