Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97691715A= | CA1182979302 | DPYD | c.762+2T= (n.762+2T=) n.528T= c.651+2T= (n.651+2T=) c.267+2T= (n.267+2T=) | |
1 | g.97691715A>C | CA341379173 | DPYD | c.762+2T>G (n.762+2T>G) n.528T>G c.651+2T>G (n.651+2T>G) c.267+2T>G (n.267+2T>G) | |
1 | g.97691715A>G | CA16040812 | DPYD | c.762+2T>C (n.762+2T>C) n.528T>C c.651+2T>C (n.651+2T>C) c.267+2T>C (n.267+2T>C) | ClinVar dbSNP gnomAD v4 |
1 | g.97691715A>T | CA341379174 | DPYD | c.762+2T>A (n.762+2T>A) n.528T>A c.651+2T>A (n.651+2T>A) c.267+2T>A (n.267+2T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97691716C>A | CA341379175 | DPYD | c.762+1G>T (n.762+1G>T) n.527G>T c.651+1G>T (n.651+1G>T) c.267+1G>T (n.267+1G>T) | gnomAD v4 |
1 | g.97691716C= | CA1143906682 | DPYD | c.762+1G= (n.762+1G=) n.527G= c.651+1G= (n.651+1G=) c.267+1G= (n.267+1G=) | |
1 | g.97691716C>G | CA341379176 | DPYD | c.762+1G>C (n.762+1G>C) n.527G>C c.651+1G>C (n.651+1G>C) c.267+1G>C (n.267+1G>C) | gnomAD v4 |
1 | g.97691716C>T | CA963572 | DPYD | c.762+1G>A (n.762+1G>A) n.527G>A c.651+1G>A (n.651+1G>A) c.267+1G>A (n.267+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97691717C>A | CA341379177 | DPYD | c.762G>T (p.Lys254Asn) n.526G>T c.651G>T (p.Lys217Asn) c.267G>T (p.Lys89Asn) | dbSNP |
1 | g.97691717C= | CA1182979303 | DPYD | c.762G= (p.Lys254=) n.526G= c.651G= (p.Lys217=) c.267G= (p.Lys89=) | |
1 | g.97691717C>G | CA341379178 | DPYD | c.762G>C (p.Lys254Asn) n.526G>C c.651G>C (p.Lys217Asn) c.267G>C (p.Lys89Asn) | |
1 | g.97691717C>T | CA419147863 | DPYD | c.762G>A (p.Lys254=) n.526G>A c.651G>A (p.Lys217=) c.267G>A (p.Lys89=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97691718T>A | CA341379179 | DPYD | c.761A>T (p.Lys254Met) n.525A>T c.650A>T (p.Lys217Met) c.266A>T (p.Lys89Met) | |
1 | g.97691718T>C | CA341379180 | DPYD | c.761A>G (p.Lys254Arg) n.525A>G c.650A>G (p.Lys217Arg) c.266A>G (p.Lys89Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97691718T>G | CA341379181 | DPYD | c.761A>C (p.Lys254Thr) n.525A>C c.650A>C (p.Lys217Thr) c.266A>C (p.Lys89Thr) | |
1 | g.97691718T= | CA1182979304 | DPYD | c.761A= (p.Lys254=) n.525A= c.650A= (p.Lys217=) c.266A= (p.Lys89=) | |
1 | g.97691719T>A | CA341379182 | DPYD | c.760A>T (p.Lys254Ter) n.524A>T c.649A>T (p.Lys217Ter) c.265A>T (p.Lys89Ter) | |
1 | g.97691719T>C | CA341379184 | DPYD | c.760A>G (p.Lys254Glu) n.524A>G c.649A>G (p.Lys217Glu) c.265A>G (p.Lys89Glu) | |
1 | g.97691719T>G | CA341379183 | DPYD | c.760A>C (p.Lys254Gln) n.524A>C c.649A>C (p.Lys217Gln) c.265A>C (p.Lys89Gln) | |
1 | g.97691720T>A | CA419147866 | DPYD | c.759A>T (p.Val253=) n.523A>T c.648A>T (p.Val216=) c.264A>T (p.Val88=) | |
1 | g.97691720T>C | CA419147864 | DPYD | c.759A>G (p.Val253=) n.523A>G c.648A>G (p.Val216=) c.264A>G (p.Val88=) | |
1 | g.97691720T>G | CA419147865 | DPYD | c.759A>C (p.Val253=) n.523A>C c.648A>C (p.Val216=) c.264A>C (p.Val88=) | |
1 | g.97691721A>C | CA341379185 | DPYD | c.758T>G (p.Val253Gly) n.522T>G c.647T>G (p.Val216Gly) c.263T>G (p.Val88Gly) | |
1 | g.97691721A>G | CA341379186 | DPYD | c.758T>C (p.Val253Ala) n.522T>C c.647T>C (p.Val216Ala) c.263T>C (p.Val88Ala) | |
1 | g.97691721A>T | CA341379187 | DPYD | c.758T>A (p.Val253Glu) n.522T>A c.647T>A (p.Val216Glu) c.263T>A (p.Val88Glu) | |
1 | g.97691722C>A | CA341379188 | DPYD | c.757G>T (p.Val253Leu) n.521G>T c.646G>T (p.Val216Leu) c.262G>T (p.Val88Leu) | |
1 | g.97691722C>G | CA341379189 | DPYD | c.757G>C (p.Val253Leu) n.521G>C c.646G>C (p.Val216Leu) c.262G>C (p.Val88Leu) | |
1 | g.97691722C>T | CA341379190 | DPYD | c.757G>A (p.Val253Ile) n.521G>A c.646G>A (p.Val216Ile) c.262G>A (p.Val88Ile) | |
1 | g.97691723A= | CA1140088165 | DPYD | c.756T= (p.Gly252=) n.520T= c.645T= (p.Gly215=) c.261T= (p.Gly87=) | |
1 | g.97691723A>C | CA419147867 | DPYD | c.756T>G (p.Gly252=) n.520T>G c.645T>G (p.Gly215=) c.261T>G (p.Gly87=) | |
1 | g.97691723A>G | CA27624667 | DPYD | c.756T>C (p.Gly252=) n.520T>C c.645T>C (p.Gly215=) c.261T>C (p.Gly87=) | dbSNP gnomAD v4 |
1 | g.97691723A>T | CA419147868 | DPYD | c.756T>A (p.Gly252=) n.520T>A c.645T>A (p.Gly215=) c.261T>A (p.Gly87=) | |
1 | g.97691724C>A | CA341379191 | DPYD | c.755G>T (p.Gly252Val) n.519G>T c.644G>T (p.Gly215Val) c.260G>T (p.Gly87Val) | gnomAD v4 COSMIC |
1 | g.97691724C= | CA1182979305 | DPYD | c.755G= (p.Gly252=) n.519G= c.644G= (p.Gly215=) c.260G= (p.Gly87=) | |
1 | g.97691724C>G | CA341379192 | DPYD | c.755G>C (p.Gly252Ala) n.519G>C c.644G>C (p.Gly215Ala) c.260G>C (p.Gly87Ala) | dbSNP |
1 | g.97691724C>T | CA341379193 | DPYD | c.755G>A (p.Gly252Asp) n.519G>A c.644G>A (p.Gly215Asp) c.260G>A (p.Gly87Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97691725C>A | CA963573 | DPYD | c.754G>T (p.Gly252Cys) n.518G>T c.643G>T (p.Gly215Cys) c.259G>T (p.Gly87Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97691725C= | CA1182979306 | DPYD | c.754G= (p.Gly252=) n.518G= c.643G= (p.Gly215=) c.259G= (p.Gly87=) | |
1 | g.97691725C>G | CA341379194 | DPYD | c.754G>C (p.Gly252Arg) n.518G>C c.643G>C (p.Gly215Arg) c.259G>C (p.Gly87Arg) | gnomAD v4 |
1 | g.97691725C>T | CA341379195 | DPYD | c.754G>A (p.Gly252Ser) n.518G>A c.643G>A (p.Gly215Ser) c.259G>A (p.Gly87Ser) | dbSNP |
1 | g.97691726A>C | CA419147869 | DPYD | c.753T>G (p.Leu251=) n.517T>G c.642T>G (p.Leu214=) c.258T>G (p.Leu86=) | |
1 | g.97691726A>G | CA419147870 | DPYD | c.753T>C (p.Leu251=) n.517T>C c.642T>C (p.Leu214=) c.258T>C (p.Leu86=) | gnomAD v4 |
1 | g.97691726A>T | CA419147871 | DPYD | c.753T>A (p.Leu251=) n.517T>A c.642T>A (p.Leu214=) c.258T>A (p.Leu86=) | COSMIC |
1 | g.97691727A>C | CA341379196 | DPYD | c.752T>G (p.Leu251Arg) n.516T>G c.641T>G (p.Leu214Arg) c.257T>G (p.Leu86Arg) | |
1 | g.97691727A>G | CA341379198 | DPYD | c.752T>C (p.Leu251Pro) n.516T>C c.641T>C (p.Leu214Pro) c.257T>C (p.Leu86Pro) | |
1 | g.97691727A>T | CA341379197 | DPYD | c.752T>A (p.Leu251His) n.516T>A c.641T>A (p.Leu214His) c.257T>A (p.Leu86His) | |
1 | g.97691728G>A | CA341379199 | DPYD | c.751C>T (p.Leu251Phe) n.515C>T c.640C>T (p.Leu214Phe) c.256C>T (p.Leu86Phe) | gnomAD v4 |
1 | g.97691728G>C | CA341379200 | DPYD | c.751C>G (p.Leu251Val) n.515C>G c.640C>G (p.Leu214Val) c.256C>G (p.Leu86Val) | gnomAD v4 |
1 | g.97691728G>T | CA341379201 | DPYD | c.751C>A (p.Leu251Ile) n.515C>A c.640C>A (p.Leu214Ile) c.256C>A (p.Leu86Ile) | |
1 | g.97691729G>A | CA419147872 | DPYD | c.750C>T (p.Asp250=) n.514C>T c.639C>T (p.Asp213=) c.255C>T (p.Asp85=) |