Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
15 | g.58010771T>A | CA392790277 | ALDH1A2 | c.371A>T (p.Glu124Val) c.*345A>T (n.*345A>T) c.308A>T (p.Glu103Val) c.284A>T (p.Glu95Val) n.318+3087A>T c.83A>T (p.Glu28Val) | |
15 | g.58010771T>C | CA392790278 | ALDH1A2 | c.371A>G (p.Glu124Gly) c.*345A>G (n.*345A>G) c.308A>G (p.Glu103Gly) c.284A>G (p.Glu95Gly) n.318+3087A>G c.83A>G (p.Glu28Gly) | |
15 | g.58010771T>G | CA392790279 | ALDH1A2 | c.371A>C (p.Glu124Ala) c.*345A>C (n.*345A>C) c.308A>C (p.Glu103Ala) c.284A>C (p.Glu95Ala) n.318+3087A>C c.83A>C (p.Glu28Ala) | |
15 | g.58010772C>A | CA392790280 | ALDH1A2 | c.370G>T (p.Glu124Ter) c.*344G>T (n.*344G>T) c.307G>T (p.Glu103Ter) c.283G>T (p.Glu95Ter) n.318+3086G>T c.82G>T (p.Glu28Ter) | |
15 | g.58010772C>G | CA392790281 | ALDH1A2 | c.370G>C (p.Glu124Gln) c.*344G>C (n.*344G>C) c.307G>C (p.Glu103Gln) c.283G>C (p.Glu95Gln) n.318+3086G>C c.82G>C (p.Glu28Gln) | |
15 | g.58010772C>T | CA392790282 | ALDH1A2 | c.370G>A (p.Glu124Lys) c.*344G>A (n.*344G>A) c.307G>A (p.Glu103Lys) c.283G>A (p.Glu95Lys) n.318+3086G>A c.82G>A (p.Glu28Lys) | |
15 | g.58010773C>A | CA392790283 | ALDH1A2 | c.369G>T (p.Met123Ile) c.*343G>T (n.*343G>T) c.306G>T (p.Met102Ile) c.282G>T (p.Met94Ile) n.318+3085G>T c.81G>T (p.Met27Ile) | |
15 | g.58010773C>G | CA392790284 | ALDH1A2 | c.369G>C (p.Met123Ile) c.*343G>C (n.*343G>C) c.306G>C (p.Met102Ile) c.282G>C (p.Met94Ile) n.318+3085G>C c.81G>C (p.Met27Ile) | |
15 | g.58010773C>T | CA392790285 | ALDH1A2 | c.369G>A (p.Met123Ile) c.*343G>A (n.*343G>A) c.306G>A (p.Met102Ile) c.282G>A (p.Met94Ile) n.318+3085G>A c.81G>A (p.Met27Ile) | |
15 | g.58010774A>C | CA392790286 | ALDH1A2 | c.368T>G (p.Met123Arg) c.*342T>G (n.*342T>G) c.305T>G (p.Met102Arg) c.281T>G (p.Met94Arg) n.318+3084T>G c.80T>G (p.Met27Arg) | |
15 | g.58010774A>G | CA392790287 | ALDH1A2 | c.368T>C (p.Met123Thr) c.*342T>C (n.*342T>C) c.305T>C (p.Met102Thr) c.281T>C (p.Met94Thr) n.318+3084T>C c.80T>C (p.Met27Thr) | gnomAD v4 |
15 | g.58010774A>T | CA392790288 | ALDH1A2 | c.368T>A (p.Met123Lys) c.*342T>A (n.*342T>A) c.305T>A (p.Met102Lys) c.281T>A (p.Met94Lys) n.318+3084T>A c.80T>A (p.Met27Lys) | |
15 | g.58010775T>A | CA392790290 | ALDH1A2 | c.367A>T (p.Met123Leu) c.*341A>T (n.*341A>T) c.304A>T (p.Met102Leu) c.280A>T (p.Met94Leu) n.318+3083A>T c.79A>T (p.Met27Leu) | |
15 | g.58010775T>C | CA271346384 | ALDH1A2 | c.367A>G (p.Met123Val) c.*341A>G (n.*341A>G) c.304A>G (p.Met102Val) c.280A>G (p.Met94Val) n.318+3083A>G c.79A>G (p.Met27Val) | dbSNP gnomAD v4 |
15 | g.58010775T>G | CA392790289 | ALDH1A2 | c.367A>C (p.Met123Leu) c.*341A>C (n.*341A>C) c.304A>C (p.Met102Leu) c.280A>C (p.Met94Leu) n.318+3083A>C c.79A>C (p.Met27Leu) | |
15 | g.58010775T= | CA2180114186 | ALDH1A2 | c.367A= (p.Met123=) c.*341A= (n.*341A=) c.304A= (p.Met102=) c.280A= (p.Met94=) n.318+3083A= c.79A= (p.Met27=) | |
15 | g.58010776G>A | CA7584101 | ALDH1A2 | c.366C>T (p.Thr122=) c.*340C>T (n.*340C>T) c.303C>T (p.Thr101=) c.279C>T (p.Thr93=) n.318+3082C>T c.78C>T (p.Thr26=) | dbSNP ExAC gnomAD v2 |
15 | g.58010776G>C | CA490587322 | ALDH1A2 | c.366C>G (p.Thr122=) c.*340C>G (n.*340C>G) c.303C>G (p.Thr101=) c.279C>G (p.Thr93=) n.318+3082C>G c.78C>G (p.Thr26=) | |
15 | g.58010776G= | CA2180114189 | ALDH1A2 | c.366C= (p.Thr122=) c.*340C= (n.*340C=) c.303C= (p.Thr101=) c.279C= (p.Thr93=) n.318+3082C= c.78C= (p.Thr26=) | |
15 | g.58010776G>T | CA490587323 | ALDH1A2 | c.366C>A (p.Thr122=) c.*340C>A (n.*340C>A) c.303C>A (p.Thr101=) c.279C>A (p.Thr93=) n.318+3082C>A c.78C>A (p.Thr26=) | |
15 | g.58010777G>A | CA392790292 | ALDH1A2 | c.365C>T (p.Thr122Ile) c.*339C>T (n.*339C>T) c.302C>T (p.Thr101Ile) c.278C>T (p.Thr93Ile) n.318+3081C>T c.77C>T (p.Thr26Ile) | |
15 | g.58010777G>C | CA392790291 | ALDH1A2 | c.365C>G (p.Thr122Ser) c.*339C>G (n.*339C>G) c.302C>G (p.Thr101Ser) c.278C>G (p.Thr93Ser) n.318+3081C>G c.77C>G (p.Thr26Ser) | |
15 | g.58010777G>T | CA392790293 | ALDH1A2 | c.365C>A (p.Thr122Asn) c.*339C>A (n.*339C>A) c.302C>A (p.Thr101Asn) c.278C>A (p.Thr93Asn) n.318+3081C>A c.77C>A (p.Thr26Asn) | |
15 | g.58010778T>A | CA392790296 | ALDH1A2 | c.364A>T (p.Thr122Ser) c.*338A>T (n.*338A>T) c.301A>T (p.Thr101Ser) c.277A>T (p.Thr93Ser) n.318+3080A>T c.76A>T (p.Thr26Ser) | |
15 | g.58010778T>C | CA392790299 | ALDH1A2 | c.364A>G (p.Thr122Ala) c.*338A>G (n.*338A>G) c.301A>G (p.Thr101Ala) c.277A>G (p.Thr93Ala) n.318+3080A>G c.76A>G (p.Thr26Ala) | dbSNP |
15 | g.58010778T>G | CA392790297 | ALDH1A2 | c.364A>C (p.Thr122Pro) c.*338A>C (n.*338A>C) c.301A>C (p.Thr101Pro) c.277A>C (p.Thr93Pro) n.318+3080A>C c.76A>C (p.Thr26Pro) | |
15 | g.58010778T= | CA2180114191 | ALDH1A2 | c.364A= (p.Thr122=) c.*338A= (n.*338A=) c.301A= (p.Thr101=) c.277A= (p.Thr93=) n.318+3080A= c.76A= (p.Thr26=) | |
15 | g.58010779C>A | CA392790301 | ALDH1A2 | c.364-1G>T (n.364-1G>T) c.*338-1G>T (n.*338-1G>T) c.301-1G>T (n.301-1G>T) c.277-1G>T (n.277-1G>T) n.318+3079G>T c.76-1G>T (n.76-1G>T) | gnomAD v4 |
15 | g.58010779C= | CA2180114194 | ALDH1A2 | c.364-1G= (n.364-1G=) c.*338-1G= (n.*338-1G=) c.301-1G= (n.301-1G=) c.277-1G= (n.277-1G=) n.318+3079G= c.76-1G= (n.76-1G=) | |
15 | g.58010779C>G | CA392790303 | ALDH1A2 | c.364-1G>C (n.364-1G>C) c.*338-1G>C (n.*338-1G>C) c.301-1G>C (n.301-1G>C) c.277-1G>C (n.277-1G>C) n.318+3079G>C c.76-1G>C (n.76-1G>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010779C>T | CA392790305 | ALDH1A2 | c.364-1G>A (n.364-1G>A) c.*338-1G>A (n.*338-1G>A) c.301-1G>A (n.301-1G>A) c.277-1G>A (n.277-1G>A) n.318+3079G>A c.76-1G>A (n.76-1G>A) | |
15 | g.58010780T>A | CA392790307 | ALDH1A2 | c.364-2A>T (n.364-2A>T) c.*338-2A>T (n.*338-2A>T) c.301-2A>T (n.301-2A>T) c.277-2A>T (n.277-2A>T) n.318+3078A>T c.76-2A>T (n.76-2A>T) | |
15 | g.58010780T>C | CA392790308 | ALDH1A2 | c.364-2A>G (n.364-2A>G) c.*338-2A>G (n.*338-2A>G) c.301-2A>G (n.301-2A>G) c.277-2A>G (n.277-2A>G) n.318+3078A>G c.76-2A>G (n.76-2A>G) | gnomAD v4 |
15 | g.58010780T>G | CA392790310 | ALDH1A2 | c.364-2A>C (n.364-2A>C) c.*338-2A>C (n.*338-2A>C) c.301-2A>C (n.301-2A>C) c.277-2A>C (n.277-2A>C) n.318+3078A>C c.76-2A>C (n.76-2A>C) | |
15 | g.58010781G= | CA2180114196 | ALDH1A2 | c.364-3C= (n.364-3C=) c.*338-3C= (n.*338-3C=) c.301-3C= (n.301-3C=) c.277-3C= (n.277-3C=) n.318+3077C= c.76-3C= (n.76-3C=) | |
15 | g.58010781G>T | CA2180114198 | ALDH1A2 | c.364-3C>A (n.364-3C>A) c.*338-3C>A (n.*338-3C>A) c.301-3C>A (n.301-3C>A) c.277-3C>A (n.277-3C>A) n.318+3077C>A c.76-3C>A (n.76-3C>A) | dbSNP gnomAD v4 |
15 | g.58010782T>C | CA7584102 | ALDH1A2 | c.364-4A>G (n.364-4A>G) c.*338-4A>G (n.*338-4A>G) c.301-4A>G (n.301-4A>G) c.277-4A>G (n.277-4A>G) n.318+3076A>G c.76-4A>G (n.76-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010782T= | CA2180114206 | ALDH1A2 | c.364-4A= (n.364-4A=) c.*338-4A= (n.*338-4A=) c.301-4A= (n.301-4A=) c.277-4A= (n.277-4A=) n.318+3076A= c.76-4A= (n.76-4A=) | |
15 | g.58010783T>C | CA7584103 | ALDH1A2 | c.364-5A>G (n.364-5A>G) c.*338-5A>G (n.*338-5A>G) c.301-5A>G (n.301-5A>G) c.277-5A>G (n.277-5A>G) n.318+3075A>G c.76-5A>G (n.76-5A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010783T= | CA2180114209 | ALDH1A2 | c.364-5A= (n.364-5A=) c.*338-5A= (n.*338-5A=) c.301-5A= (n.301-5A=) c.277-5A= (n.277-5A=) n.318+3075A= c.76-5A= (n.76-5A=) | |
15 | g.58010784G>A | CA2180114212 | ALDH1A2 | c.364-6C>T (n.364-6C>T) c.*338-6C>T (n.*338-6C>T) c.301-6C>T (n.301-6C>T) c.277-6C>T (n.277-6C>T) n.318+3074C>T c.76-6C>T (n.76-6C>T) | dbSNP gnomAD v4 |
15 | g.58010784G= | CA2180114211 | ALDH1A2 | c.364-6C= (n.364-6C=) c.*338-6C= (n.*338-6C=) c.301-6C= (n.301-6C=) c.277-6C= (n.277-6C=) n.318+3074C= c.76-6C= (n.76-6C=) | |
15 | g.58010785G>C | CA7584104 | ALDH1A2 | c.364-7C>G (n.364-7C>G) c.*338-7C>G (n.*338-7C>G) c.301-7C>G (n.301-7C>G) c.277-7C>G (n.277-7C>G) n.318+3073C>G c.76-7C>G (n.76-7C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.58010785G= | CA2180114214 | ALDH1A2 | c.364-7C= (n.364-7C=) c.*338-7C= (n.*338-7C=) c.301-7C= (n.301-7C=) c.277-7C= (n.277-7C=) n.318+3073C= c.76-7C= (n.76-7C=) | |
15 | g.58010788_58010817del | CA2628668934 | ALDH1A2 | c.364-36_364-7del (n.364-36_364-7del) c.*338-36_*338-7del (n.*338-36_*338-7del) c.301-36_301-7del (n.301-36_301-7del) c.277-36_277-7del (n.277-36_277-7del) n.318+3044_318+3073del c.76-36_76-7del (n.76-36_76-7del) | gnomAD v4 |
15 | g.58010786A>T | CA2575740374 | ALDH1A2 | c.364-8T>A (n.364-8T>A) c.*338-8T>A (n.*338-8T>A) c.301-8T>A (n.301-8T>A) c.277-8T>A (n.277-8T>A) n.318+3072T>A c.76-8T>A (n.76-8T>A) | |
15 | g.58010787del | CA2628668935 | ALDH1A2 | c.364-8del (n.364-8del) c.*338-8del (n.*338-8del) c.301-8del (n.301-8del) c.277-8del (n.277-8del) n.318+3072del c.76-8del (n.76-8del) | gnomAD v4 |
15 | g.58010787A= | CA2180114216 | ALDH1A2 | c.364-9T= (n.364-9T=) c.*338-9T= (n.*338-9T=) c.301-9T= (n.301-9T=) c.277-9T= (n.277-9T=) n.318+3071T= c.76-9T= (n.76-9T=) | |
15 | g.58010787A>G | CA714258099 | ALDH1A2 | c.364-9T>C (n.364-9T>C) c.*338-9T>C (n.*338-9T>C) c.301-9T>C (n.301-9T>C) c.277-9T>C (n.277-9T>C) n.318+3071T>C c.76-9T>C (n.76-9T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.58010788G>A | CA7584105 | ALDH1A2 | c.364-10C>T (n.364-10C>T) c.*338-10C>T (n.*338-10C>T) c.301-10C>T (n.301-10C>T) c.277-10C>T (n.277-10C>T) n.318+3070C>T c.76-10C>T (n.76-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010788G= | CA2180114218 | ALDH1A2 | c.364-10C= (n.364-10C=) c.*338-10C= (n.*338-10C=) c.301-10C= (n.301-10C=) c.277-10C= (n.277-10C=) n.318+3070C= c.76-10C= (n.76-10C=) | |
15 | g.58010788G>T | CA714258101 | ALDH1A2 | c.364-10C>A (n.364-10C>A) c.*338-10C>A (n.*338-10C>A) c.301-10C>A (n.301-10C>A) c.277-10C>A (n.277-10C>A) n.318+3070C>A c.76-10C>A (n.76-10C>A) | dbSNP |
15 | g.58010789A= | CA2180114220 | ALDH1A2 | c.364-11T= (n.364-11T=) c.*338-11T= (n.*338-11T=) c.301-11T= (n.301-11T=) c.277-11T= (n.277-11T=) n.318+3069T= c.76-11T= (n.76-11T=) | |
15 | g.58010789A>C | CA2575740375 | ALDH1A2 | c.364-11T>G (n.364-11T>G) c.*338-11T>G (n.*338-11T>G) c.301-11T>G (n.301-11T>G) c.277-11T>G (n.277-11T>G) n.318+3069T>G c.76-11T>G (n.76-11T>G) | |
15 | g.58010789A>G | CA2628668936 | ALDH1A2 | c.364-11T>C (n.364-11T>C) c.*338-11T>C (n.*338-11T>C) c.301-11T>C (n.301-11T>C) c.277-11T>C (n.277-11T>C) n.318+3069T>C c.76-11T>C (n.76-11T>C) | gnomAD v4 |
15 | g.58010790G>A | CA2628668937 | ALDH1A2 | c.364-12C>T (n.364-12C>T) c.*338-12C>T (n.*338-12C>T) c.301-12C>T (n.301-12C>T) c.277-12C>T (n.277-12C>T) n.318+3068C>T c.76-12C>T (n.76-12C>T) | gnomAD v4 |
15 | g.58010790G>C | CA271346385 | ALDH1A2 | c.364-12C>G (n.364-12C>G) c.*338-12C>G (n.*338-12C>G) c.301-12C>G (n.301-12C>G) c.277-12C>G (n.277-12C>G) n.318+3068C>G c.76-12C>G (n.76-12C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010790G= | CA2180114224 | ALDH1A2 | c.364-12C= (n.364-12C=) c.*338-12C= (n.*338-12C=) c.301-12C= (n.301-12C=) c.277-12C= (n.277-12C=) n.318+3068C= c.76-12C= (n.76-12C=) | |
15 | g.58010790dup | CA2180114222 | ALDH1A2 | c.364-12dup (n.364-12dup) c.*338-12dup (n.*338-12dup) c.301-12dup (n.301-12dup) c.277-12dup (n.277-12dup) n.318+3068dup c.76-12dup (n.76-12dup) | dbSNP |
15 | g.58010791A= | CA2180114226 | ALDH1A2 | c.364-13T= (n.364-13T=) c.*338-13T= (n.*338-13T=) c.301-13T= (n.301-13T=) c.277-13T= (n.277-13T=) n.318+3067T= c.76-13T= (n.76-13T=) | |
15 | g.58010791A>T | CA2180114227 | ALDH1A2 | c.364-13T>A (n.364-13T>A) c.*338-13T>A (n.*338-13T>A) c.301-13T>A (n.301-13T>A) c.277-13T>A (n.277-13T>A) n.318+3067T>A c.76-13T>A (n.76-13T>A) | dbSNP |
15 | g.58010793A= | CA2180114230 | ALDH1A2 | c.364-15T= (n.364-15T=) c.*338-15T= (n.*338-15T=) c.301-15T= (n.301-15T=) c.277-15T= (n.277-15T=) n.318+3065T= c.76-15T= (n.76-15T=) | |
15 | g.58010793A>G | CA2180114231 | ALDH1A2 | c.364-15T>C (n.364-15T>C) c.*338-15T>C (n.*338-15T>C) c.301-15T>C (n.301-15T>C) c.277-15T>C (n.277-15T>C) n.318+3065T>C c.76-15T>C (n.76-15T>C) | dbSNP gnomAD v4 |
15 | g.58010794T>C | CA490587324 | ALDH1A2 | c.364-16A>G (n.364-16A>G) c.*338-16A>G (n.*338-16A>G) c.301-16A>G (n.301-16A>G) c.277-16A>G (n.277-16A>G) n.318+3064A>G c.76-16A>G (n.76-16A>G) | |
15 | g.58010795G>A | CA7584106 | ALDH1A2 | c.364-17C>T (n.364-17C>T) c.*338-17C>T (n.*338-17C>T) c.301-17C>T (n.301-17C>T) c.277-17C>T (n.277-17C>T) n.318+3063C>T c.76-17C>T (n.76-17C>T) | dbSNP ExAC gnomAD v4 |
15 | g.58010795G= | CA2180114236 | ALDH1A2 | c.364-17C= (n.364-17C=) c.*338-17C= (n.*338-17C=) c.301-17C= (n.301-17C=) c.277-17C= (n.277-17C=) n.318+3063C= c.76-17C= (n.76-17C=) | |
15 | g.58010795G>T | CA2804317358 | ALDH1A2 | c.364-17C>A (n.364-17C>A) c.*338-17C>A (n.*338-17C>A) c.301-17C>A (n.301-17C>A) c.277-17C>A (n.277-17C>A) n.318+3063C>A c.76-17C>A (n.76-17C>A) | |
15 | g.58010796G>C | CA618391050 | ALDH1A2 | c.364-18C>G (n.364-18C>G) c.*338-18C>G (n.*338-18C>G) c.301-18C>G (n.301-18C>G) c.277-18C>G (n.277-18C>G) n.318+3062C>G c.76-18C>G (n.76-18C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.58010796G= | CA2180114239 | ALDH1A2 | c.364-18C= (n.364-18C=) c.*338-18C= (n.*338-18C=) c.301-18C= (n.301-18C=) c.277-18C= (n.277-18C=) n.318+3062C= c.76-18C= (n.76-18C=) | |
15 | g.58010796G>T | CA656167457 | ALDH1A2 | c.364-18C>A (n.364-18C>A) c.*338-18C>A (n.*338-18C>A) c.301-18C>A (n.301-18C>A) c.277-18C>A (n.277-18C>A) n.318+3062C>A c.76-18C>A (n.76-18C>A) | COSMIC |
15 | g.58010798G>A | CA271346386 | ALDH1A2 | c.364-20C>T (n.364-20C>T) c.*338-20C>T (n.*338-20C>T) c.301-20C>T (n.301-20C>T) c.277-20C>T (n.277-20C>T) n.318+3060C>T c.76-20C>T (n.76-20C>T) | dbSNP |
15 | g.58010798G= | CA2180114240 | ALDH1A2 | c.364-20C= (n.364-20C=) c.*338-20C= (n.*338-20C=) c.301-20C= (n.301-20C=) c.277-20C= (n.277-20C=) n.318+3060C= c.76-20C= (n.76-20C=) | |
15 | g.58010801A>T | CA2628668938 | ALDH1A2 | c.364-23T>A (n.364-23T>A) c.*338-23T>A (n.*338-23T>A) c.301-23T>A (n.301-23T>A) c.277-23T>A (n.277-23T>A) n.318+3057T>A c.76-23T>A (n.76-23T>A) | gnomAD v4 |
15 | g.58010802_58010803dup | CA2575740376 | ALDH1A2 | c.364-24_364-23dup (n.364-24_364-23dup) c.*338-24_*338-23dup (n.*338-24_*338-23dup) c.301-24_301-23dup (n.301-24_301-23dup) c.277-24_277-23dup (n.277-24_277-23dup) n.318+3056_318+3057dup c.76-24_76-23dup (n.76-24_76-23dup) | |
15 | g.58010802T>C | CA2180114243 | ALDH1A2 | c.364-24A>G (n.364-24A>G) c.*338-24A>G (n.*338-24A>G) c.301-24A>G (n.301-24A>G) c.277-24A>G (n.277-24A>G) n.318+3056A>G c.76-24A>G (n.76-24A>G) | dbSNP gnomAD v4 |
15 | g.58010802T= | CA2180114242 | ALDH1A2 | c.364-24A= (n.364-24A=) c.*338-24A= (n.*338-24A=) c.301-24A= (n.301-24A=) c.277-24A= (n.277-24A=) n.318+3056A= c.76-24A= (n.76-24A=) | |
15 | g.58010804C>A | CA7584109 | ALDH1A2 | c.364-26G>T (n.364-26G>T) c.*338-26G>T (n.*338-26G>T) c.301-26G>T (n.301-26G>T) c.277-26G>T (n.277-26G>T) n.318+3054G>T c.76-26G>T (n.76-26G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010804C= | CA2180114244 | ALDH1A2 | c.364-26G= (n.364-26G=) c.*338-26G= (n.*338-26G=) c.301-26G= (n.301-26G=) c.277-26G= (n.277-26G=) n.318+3054G= c.76-26G= (n.76-26G=) | |
15 | g.58010804C>G | CA7584107 | ALDH1A2 | c.364-26G>C (n.364-26G>C) c.*338-26G>C (n.*338-26G>C) c.301-26G>C (n.301-26G>C) c.277-26G>C (n.277-26G>C) n.318+3054G>C c.76-26G>C (n.76-26G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.58010804C>T | CA7584108 | ALDH1A2 | c.364-26G>A (n.364-26G>A) c.*338-26G>A (n.*338-26G>A) c.301-26G>A (n.301-26G>A) c.277-26G>A (n.277-26G>A) n.318+3054G>A c.76-26G>A (n.76-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |