UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62998969A>C | CA380983924 | SLC22A8 | c.713T>G (p.Leu238Arg) c.344T>G (p.Leu115Arg) n.531T>G n.434T>G n.553T>G c.440T>G (p.Leu147Arg) | gnomAD v4 |
| 11 | g.62998969A>G | CA380983919 | SLC22A8 | c.713T>C (p.Leu238Pro) c.344T>C (p.Leu115Pro) n.531T>C n.434T>C n.553T>C c.440T>C (p.Leu147Pro) | gnomAD v4 |
| 11 | g.62998969A>T | CA380983921 | SLC22A8 | c.713T>A (p.Leu238Gln) c.344T>A (p.Leu115Gln) n.531T>A n.434T>A n.553T>A c.440T>A (p.Leu147Gln) | |
| 11 | g.62998970G>A | CA474857062 | SLC22A8 | c.712C>T (p.Leu238=) c.343C>T (p.Leu115=) n.530C>T n.433C>T n.552C>T c.439C>T (p.Leu147=) | |
| 11 | g.62998970G>C | CA380983927 | SLC22A8 | c.712C>G (p.Leu238Val) c.343C>G (p.Leu115Val) n.530C>G n.433C>G n.552C>G c.439C>G (p.Leu147Val) | |
| 11 | g.62998970G>T | CA380983929 | SLC22A8 | c.712C>A (p.Leu238Met) c.343C>A (p.Leu115Met) n.530C>A n.433C>A n.552C>A c.439C>A (p.Leu147Met) | |
| 11 | g.62998971C>A | CA380983932 | SLC22A8 | c.711G>T (p.Trp237Cys) c.342G>T (p.Trp114Cys) n.529G>T n.432G>T n.551G>T c.438G>T (p.Trp146Cys) | |
| 11 | g.62998971C>G | CA380983933 | SLC22A8 | c.711G>C (p.Trp237Cys) c.342G>C (p.Trp114Cys) n.529G>C n.432G>C n.551G>C c.438G>C (p.Trp146Cys) | |
| 11 | g.62998971C>T | CA380983934 | SLC22A8 | c.711G>A (p.Trp237Ter) c.342G>A (p.Trp114Ter) n.529G>A n.432G>A n.551G>A c.438G>A (p.Trp146Ter) | dbSNP gnomAD v4 |
| 11 | g.62998972C>A | CA380983935 | SLC22A8 | c.710G>T (p.Trp237Leu) c.341G>T (p.Trp114Leu) n.528G>T n.431G>T n.550G>T c.437G>T (p.Trp146Leu) | |
| 11 | g.62998972C>G | CA380983936 | SLC22A8 | c.710G>C (p.Trp237Ser) c.341G>C (p.Trp114Ser) n.528G>C n.431G>C n.550G>C c.437G>C (p.Trp146Ser) | |
| 11 | g.62998972C>T | CA380983938 | SLC22A8 | c.710G>A (p.Trp237Ter) c.341G>A (p.Trp114Ter) n.528G>A n.431G>A n.550G>A c.437G>A (p.Trp146Ter) | |
| 11 | g.62998973A>C | CA380983940 | SLC22A8 | c.709T>G (p.Trp237Gly) c.340T>G (p.Trp114Gly) n.527T>G n.430T>G n.549T>G c.436T>G (p.Trp146Gly) | |
| 11 | g.62998973A>G | CA380983942 | SLC22A8 | c.709T>C (p.Trp237Arg) c.340T>C (p.Trp114Arg) n.527T>C n.430T>C n.549T>C c.436T>C (p.Trp146Arg) | gnomAD v4 |
| 11 | g.62998973A>T | CA380983943 | SLC22A8 | c.709T>A (p.Trp237Arg) c.340T>A (p.Trp114Arg) n.527T>A n.430T>A n.549T>A c.436T>A (p.Trp146Arg) | |
| 11 | g.62998974A= | CA1978015866 | SLC22A8 | c.708T= (p.Arg236=) c.339T= (p.Arg113=) n.526T= n.429T= n.548T= c.435T= (p.Arg145=) | |
| 11 | g.62998974A>C | CA474857068 | SLC22A8 | c.708T>G (p.Arg236=) c.339T>G (p.Arg113=) n.526T>G n.429T>G n.548T>G c.435T>G (p.Arg145=) | |
| 11 | g.62998974A>G | CA6059856 | SLC22A8 | c.708T>C (p.Arg236=) c.339T>C (p.Arg113=) n.526T>C n.429T>C n.548T>C c.435T>C (p.Arg145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998974A>T | CA474857069 | SLC22A8 | c.708T>A (p.Arg236=) c.339T>A (p.Arg113=) n.526T>A n.429T>A n.548T>A c.435T>A (p.Arg145=) | |
| 11 | g.62998975C>A | CA380983947 | SLC22A8 | c.707G>T (p.Arg236Leu) c.338G>T (p.Arg113Leu) n.525G>T n.428G>T n.547G>T c.434G>T (p.Arg145Leu) | dbSNP |
| 11 | g.62998975C= | CA1978015868 | SLC22A8 | c.707G= (p.Arg236=) c.338G= (p.Arg113=) n.525G= n.428G= n.547G= c.434G= (p.Arg145=) | |
| 11 | g.62998975C>G | CA380983950 | SLC22A8 | c.707G>C (p.Arg236Pro) c.338G>C (p.Arg113Pro) n.525G>C n.428G>C n.547G>C c.434G>C (p.Arg145Pro) | |
| 11 | g.62998975C>T | CA6059857 | SLC22A8 | c.707G>A (p.Arg236His) c.338G>A (p.Arg113His) n.525G>A n.428G>A n.547G>A c.434G>A (p.Arg145His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62998976G>A | CA380983951 | SLC22A8 | c.706C>T (p.Arg236Cys) c.337C>T (p.Arg113Cys) n.524C>T n.427C>T n.546C>T c.433C>T (p.Arg145Cys) | dbSNP gnomAD v4 COSMIC |
| 11 | g.62998976G>C | CA380983952 | SLC22A8 | c.706C>G (p.Arg236Gly) c.337C>G (p.Arg113Gly) n.524C>G n.427C>G n.546C>G c.433C>G (p.Arg145Gly) | |
| 11 | g.62998976G= | CA1978015870 | SLC22A8 | c.706C= (p.Arg236=) c.337C= (p.Arg113=) n.524C= n.427C= n.546C= c.433C= (p.Arg145=) | |
| 11 | g.62998976G>T | CA6059858 | SLC22A8 | c.706C>A (p.Arg236Ser) c.337C>A (p.Arg113Ser) n.524C>A n.427C>A n.546C>A c.433C>A (p.Arg145Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998977C>A | CA380983955 | SLC22A8 | c.705G>T (p.Trp235Cys) c.336G>T (p.Trp112Cys) n.523G>T n.426G>T n.545G>T c.432G>T (p.Trp144Cys) | |
| 11 | g.62998977C>G | CA380983957 | SLC22A8 | c.705G>C (p.Trp235Cys) c.336G>C (p.Trp112Cys) n.523G>C n.426G>C n.545G>C c.432G>C (p.Trp144Cys) | |
| 11 | g.62998977C>T | CA380983961 | SLC22A8 | c.705G>A (p.Trp235Ter) c.336G>A (p.Trp112Ter) n.523G>A n.426G>A n.545G>A c.432G>A (p.Trp144Ter) | |
| 11 | g.62998978C>A | CA380983965 | SLC22A8 | c.704G>T (p.Trp235Leu) c.335G>T (p.Trp112Leu) n.522G>T n.425G>T n.544G>T c.431G>T (p.Trp144Leu) | |
| 11 | g.62998978C= | CA1978015878 | SLC22A8 | c.704G= (p.Trp235=) c.335G= (p.Trp112=) n.522G= n.425G= n.544G= c.431G= (p.Trp144=) | |
| 11 | g.62998978C>G | CA380983967 | SLC22A8 | c.704G>C (p.Trp235Ser) c.335G>C (p.Trp112Ser) n.522G>C n.425G>C n.544G>C c.431G>C (p.Trp144Ser) | dbSNP |
| 11 | g.62998978C>T | CA380983969 | SLC22A8 | c.704G>A (p.Trp235Ter) c.335G>A (p.Trp112Ter) n.522G>A n.425G>A n.544G>A c.431G>A (p.Trp144Ter) | |
| 11 | g.62998979A>C | CA380983971 | SLC22A8 | c.703T>G (p.Trp235Gly) c.334T>G (p.Trp112Gly) n.521T>G n.424T>G n.543T>G c.430T>G (p.Trp144Gly) | |
| 11 | g.62998979A>G | CA380983974 | SLC22A8 | c.703T>C (p.Trp235Arg) c.334T>C (p.Trp112Arg) n.521T>C n.424T>C n.543T>C c.430T>C (p.Trp144Arg) | |
| 11 | g.62998979A>T | CA380983977 | SLC22A8 | c.703T>A (p.Trp235Arg) c.334T>A (p.Trp112Arg) n.521T>A n.424T>A n.543T>A c.430T>A (p.Trp144Arg) | |
| 11 | g.62998980C>A | CA380983982 | SLC22A8 | c.702G>T (p.Gln234His) c.333G>T (p.Gln111His) n.520G>T n.423G>T n.542G>T c.429G>T (p.Gln143His) | |
| 11 | g.62998980C= | CA1978015886 | SLC22A8 | c.702G= (p.Gln234=) c.333G= (p.Gln111=) n.520G= n.423G= n.542G= c.429G= (p.Gln143=) | |
| 11 | g.62998980C>G | CA380983980 | SLC22A8 | c.702G>C (p.Gln234His) c.333G>C (p.Gln111His) n.520G>C n.423G>C n.542G>C c.429G>C (p.Gln143His) | |
| 11 | g.62998980C>T | CA6059859 | SLC22A8 | c.702G>A (p.Gln234=) c.333G>A (p.Gln111=) n.520G>A n.423G>A n.542G>A c.429G>A (p.Gln143=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62998981T>A | CA380983985 | SLC22A8 | c.701A>T (p.Gln234Leu) c.332A>T (p.Gln111Leu) n.519A>T n.422A>T n.541A>T c.428A>T (p.Gln143Leu) | |
| 11 | g.62998981T>C | CA6059860 | SLC22A8 | c.701A>G (p.Gln234Arg) c.332A>G (p.Gln111Arg) n.519A>G n.422A>G n.541A>G c.428A>G (p.Gln143Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62998981T>G | CA380983988 | SLC22A8 | c.701A>C (p.Gln234Pro) c.332A>C (p.Gln111Pro) n.519A>C n.422A>C n.541A>C c.428A>C (p.Gln143Pro) | |
| 11 | g.62998981T= | CA1978015889 | SLC22A8 | c.701A= (p.Gln234=) c.332A= (p.Gln111=) n.519A= n.422A= n.541A= c.428A= (p.Gln143=) | |
| 11 | g.62998982G>A | CA380983990 | SLC22A8 | c.700C>T (p.Gln234Ter) c.331C>T (p.Gln111Ter) n.518C>T n.421C>T n.540C>T c.427C>T (p.Gln143Ter) | gnomAD v4 |
| 11 | g.62998982G>C | CA380983992 | SLC22A8 | c.700C>G (p.Gln234Glu) c.331C>G (p.Gln111Glu) n.518C>G n.421C>G n.540C>G c.427C>G (p.Gln143Glu) | |
| 11 | g.62998982G>T | CA380983995 | SLC22A8 | c.700C>A (p.Gln234Lys) c.331C>A (p.Gln111Lys) n.518C>A n.421C>A n.540C>A c.427C>A (p.Gln143Lys) | dbSNP |
| 11 | g.62998983G>A | CA474857075 | SLC22A8 | c.699C>T (p.Pro233=) c.330C>T (p.Pro110=) n.517C>T n.420C>T n.539C>T c.426C>T (p.Pro142=) | |
| 11 | g.62998983G>C | CA474857079 | SLC22A8 | c.699C>G (p.Pro233=) c.330C>G (p.Pro110=) n.517C>G n.420C>G n.539C>G c.426C>G (p.Pro142=) | |
| 11 | g.62998983G= | CA1978015891 | SLC22A8 | c.699C= (p.Pro233=) c.330C= (p.Pro110=) n.517C= n.420C= n.539C= c.426C= (p.Pro142=) | |
| 11 | g.62998983G>T | CA474857077 | SLC22A8 | c.699C>A (p.Pro233=) c.330C>A (p.Pro110=) n.517C>A n.420C>A n.539C>A c.426C>A (p.Pro142=) | dbSNP |
| 11 | g.62998984G>A | CA380983997 | SLC22A8 | c.698C>T (p.Pro233Leu) c.329C>T (p.Pro110Leu) n.516C>T n.419C>T n.538C>T c.425C>T (p.Pro142Leu) | |
| 11 | g.62998984G>C | CA380983999 | SLC22A8 | c.698C>G (p.Pro233Arg) c.329C>G (p.Pro110Arg) n.516C>G n.419C>G n.538C>G c.425C>G (p.Pro142Arg) | |
| 11 | g.62998984G>T | CA380984000 | SLC22A8 | c.698C>A (p.Pro233His) c.329C>A (p.Pro110His) n.516C>A n.419C>A n.538C>A c.425C>A (p.Pro142His) | gnomAD v4 |
| 11 | g.62998985G>A | CA380984002 | SLC22A8 | c.697C>T (p.Pro233Ser) c.328C>T (p.Pro110Ser) n.515C>T n.418C>T n.537C>T c.424C>T (p.Pro142Ser) | gnomAD v4 COSMIC |
| 11 | g.62998985G>C | CA380984006 | SLC22A8 | c.697C>G (p.Pro233Ala) c.328C>G (p.Pro110Ala) n.515C>G n.418C>G n.537C>G c.424C>G (p.Pro142Ala) | |
| 11 | g.62998985G>T | CA380984008 | SLC22A8 | c.697C>A (p.Pro233Thr) c.328C>A (p.Pro110Thr) n.515C>A n.418C>A n.537C>A c.424C>A (p.Pro142Thr) | |
| 11 | g.62998986G>A | CA474857082 | SLC22A8 | c.696C>T (p.Ile232=) c.327C>T (p.Ile109=) n.514C>T n.417C>T n.536C>T c.423C>T (p.Ile141=) | |
| 11 | g.62998986G>C | CA380984010 | SLC22A8 | c.696C>G (p.Ile232Met) c.327C>G (p.Ile109Met) n.514C>G n.417C>G n.536C>G c.423C>G (p.Ile141Met) | |
| 11 | g.62998986G>T | CA474857085 | SLC22A8 | c.696C>A (p.Ile232=) c.327C>A (p.Ile109=) n.514C>A n.417C>A n.536C>A c.423C>A (p.Ile141=) | |
| 11 | g.62998987A>C | CA380984016 | SLC22A8 | c.695T>G (p.Ile232Ser) c.326T>G (p.Ile109Ser) n.513T>G n.416T>G n.535T>G c.422T>G (p.Ile141Ser) | |
| 11 | g.62998987A>G | CA380984013 | SLC22A8 | c.695T>C (p.Ile232Thr) c.326T>C (p.Ile109Thr) n.513T>C n.416T>C n.535T>C c.422T>C (p.Ile141Thr) | |
| 11 | g.62998987A>T | CA380984019 | SLC22A8 | c.695T>A (p.Ile232Asn) c.326T>A (p.Ile109Asn) n.513T>A n.416T>A n.535T>A c.422T>A (p.Ile141Asn) | |
| 11 | g.62998988T>A | CA380984022 | SLC22A8 | c.694A>T (p.Ile232Phe) c.325A>T (p.Ile109Phe) n.512A>T n.415A>T n.534A>T c.421A>T (p.Ile141Phe) | |
| 11 | g.62998988T>C | CA380984024 | SLC22A8 | c.694A>G (p.Ile232Val) c.325A>G (p.Ile109Val) n.512A>G n.415A>G n.534A>G c.421A>G (p.Ile141Val) | |
| 11 | g.62998988T>G | CA380984027 | SLC22A8 | c.694A>C (p.Ile232Leu) c.325A>C (p.Ile109Leu) n.512A>C n.415A>C n.534A>C c.421A>C (p.Ile141Leu) | |
| 11 | g.62998989G>A | CA474857091 | SLC22A8 | c.693C>T (p.Ala231=) c.324C>T (p.Ala108=) n.511C>T n.414C>T n.533C>T c.420C>T (p.Ala140=) | |
| 11 | g.62998989G>C | CA474857094 | SLC22A8 | c.693C>G (p.Ala231=) c.324C>G (p.Ala108=) n.511C>G n.414C>G n.533C>G c.420C>G (p.Ala140=) | |
| 11 | g.62998989G>T | CA474857095 | SLC22A8 | c.693C>A (p.Ala231=) c.324C>A (p.Ala108=) n.511C>A n.414C>A n.533C>A c.420C>A (p.Ala140=) | |
| 11 | g.62998990G>A | CA380984030 | SLC22A8 | c.692C>T (p.Ala231Val) c.323C>T (p.Ala108Val) n.510C>T n.413C>T n.532C>T c.419C>T (p.Ala140Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998990G>C | CA380984032 | SLC22A8 | c.692C>G (p.Ala231Gly) c.323C>G (p.Ala108Gly) n.510C>G n.413C>G n.532C>G c.419C>G (p.Ala140Gly) | |
| 11 | g.62998990G= | CA1978015895 | SLC22A8 | c.692C= (p.Ala231=) c.323C= (p.Ala108=) n.510C= n.413C= n.532C= c.419C= (p.Ala140=) | |
| 11 | g.62998990G>T | CA380984034 | SLC22A8 | c.692C>A (p.Ala231Asp) c.323C>A (p.Ala108Asp) n.510C>A n.413C>A n.532C>A c.419C>A (p.Ala140Asp) | |
| 11 | g.62998991C>A | CA380984037 | SLC22A8 | c.691G>T (p.Ala231Ser) c.322G>T (p.Ala108Ser) n.509G>T n.412G>T n.531G>T c.418G>T (p.Ala140Ser) | dbSNP gnomAD v4 |
| 11 | g.62998991C= | CA1978015901 | SLC22A8 | c.691G= (p.Ala231=) c.322G= (p.Ala108=) n.509G= n.412G= n.531G= c.418G= (p.Ala140=) | |
| 11 | g.62998991C>G | CA380984039 | SLC22A8 | c.691G>C (p.Ala231Pro) c.322G>C (p.Ala108Pro) n.509G>C n.412G>C n.531G>C c.418G>C (p.Ala140Pro) | |
| 11 | g.62998991C>T | CA6059861 | SLC22A8 | c.691G>A (p.Ala231Thr) c.322G>A (p.Ala108Thr) n.509G>A n.412G>A n.531G>A c.418G>A (p.Ala140Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998992G>A | CA6059862 | SLC22A8 | c.690C>T (p.Tyr230=) c.321C>T (p.Tyr107=) n.508C>T n.411C>T n.530C>T c.417C>T (p.Tyr139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.62998992G>C | CA380984043 | SLC22A8 | c.690C>G (p.Tyr230Ter) c.321C>G (p.Tyr107Ter) n.508C>G n.411C>G n.530C>G c.417C>G (p.Tyr139Ter) | |
| 11 | g.62998992G= | CA1978015906 | SLC22A8 | c.690C= (p.Tyr230=) c.321C= (p.Tyr107=) n.508C= n.411C= n.530C= c.417C= (p.Tyr139=) | |
| 11 | g.62998992G>T | CA380984047 | SLC22A8 | c.690C>A (p.Tyr230Ter) c.321C>A (p.Tyr107Ter) n.508C>A n.411C>A n.530C>A c.417C>A (p.Tyr139Ter) | dbSNP |
| 11 | g.62998993T>A | CA380984050 | SLC22A8 | c.689A>T (p.Tyr230Phe) c.320A>T (p.Tyr107Phe) n.507A>T n.410A>T n.529A>T c.416A>T (p.Tyr139Phe) | |
| 11 | g.62998993T>C | CA380984052 | SLC22A8 | c.689A>G (p.Tyr230Cys) c.320A>G (p.Tyr107Cys) n.507A>G n.410A>G n.529A>G c.416A>G (p.Tyr139Cys) | |
| 11 | g.62998993T>G | CA380984051 | SLC22A8 | c.689A>C (p.Tyr230Ser) c.320A>C (p.Tyr107Ser) n.507A>C n.410A>C n.529A>C c.416A>C (p.Tyr139Ser) | |
| 11 | g.62998994A>C | CA380984055 | SLC22A8 | c.688T>G (p.Tyr230Asp) c.319T>G (p.Tyr107Asp) n.506T>G n.409T>G n.528T>G c.415T>G (p.Tyr139Asp) | |
| 11 | g.62998994A>G | CA380984058 | SLC22A8 | c.688T>C (p.Tyr230His) c.319T>C (p.Tyr107His) n.506T>C n.409T>C n.528T>C c.415T>C (p.Tyr139His) | |
| 11 | g.62998994A>T | CA380984061 | SLC22A8 | c.688T>A (p.Tyr230Asn) c.319T>A (p.Tyr107Asn) n.506T>A n.409T>A n.528T>A c.415T>A (p.Tyr139Asn) | gnomAD v4 |
| 11 | g.62998995G>A | CA474857118 | SLC22A8 | c.687C>T (p.Ala229=) c.318C>T (p.Ala106=) n.505C>T n.408C>T n.527C>T c.414C>T (p.Ala138=) | |
| 11 | g.62998995G>C | CA474857120 | SLC22A8 | c.687C>G (p.Ala229=) c.318C>G (p.Ala106=) n.505C>G n.408C>G n.527C>G c.414C>G (p.Ala138=) | |
| 11 | g.62998995G= | CA1978015916 | SLC22A8 | c.687C= (p.Ala229=) c.318C= (p.Ala106=) n.505C= n.408C= n.527C= c.414C= (p.Ala138=) | |
| 11 | g.62998995G>T | CA6059863 | SLC22A8 | c.687C>A (p.Ala229=) c.318C>A (p.Ala106=) n.505C>A n.408C>A n.527C>A c.414C>A (p.Ala138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998996G>A | CA380984066 | SLC22A8 | c.686C>T (p.Ala229Val) c.317C>T (p.Ala106Val) n.504C>T n.407C>T n.526C>T c.413C>T (p.Ala138Val) | |
| 11 | g.62998996G>C | CA380984068 | SLC22A8 | c.686C>G (p.Ala229Gly) c.317C>G (p.Ala106Gly) n.504C>G n.407C>G n.526C>G c.413C>G (p.Ala138Gly) | gnomAD v4 |
| 11 | g.62998996G>T | CA380984070 | SLC22A8 | c.686C>A (p.Ala229Asp) c.317C>A (p.Ala106Asp) n.504C>A n.407C>A n.526C>A c.413C>A (p.Ala138Asp) | |
| 11 | g.62998997C>A | CA380984074 | SLC22A8 | c.685G>T (p.Ala229Ser) c.316G>T (p.Ala106Ser) n.503G>T n.406G>T n.525G>T c.412G>T (p.Ala138Ser) | |
| 11 | g.62998997C>G | CA380984075 | SLC22A8 | c.685G>C (p.Ala229Pro) c.316G>C (p.Ala106Pro) n.503G>C n.406G>C n.525G>C c.412G>C (p.Ala138Pro) | |
| 11 | g.62998997C>T | CA380984077 | SLC22A8 | c.685G>A (p.Ala229Thr) c.316G>A (p.Ala106Thr) n.503G>A n.406G>A n.525G>A c.412G>A (p.Ala138Thr) | COSMIC |
| 11 | g.62998998C>A | CA474857135 | SLC22A8 | c.684G>T (p.Leu228=) c.315G>T (p.Leu105=) n.502G>T n.405G>T n.524G>T c.411G>T (p.Leu137=) | |
| 11 | g.62998998C>G | CA474857137 | SLC22A8 | c.684G>C (p.Leu228=) c.315G>C (p.Leu105=) n.502G>C n.405G>C n.524G>C c.411G>C (p.Leu137=) | |
| 11 | g.62998998C>T | CA474857132 | SLC22A8 | c.684G>A (p.Leu228=) c.315G>A (p.Leu105=) n.502G>A n.405G>A n.524G>A c.411G>A (p.Leu137=) | |
| 11 | g.62998999A>C | CA380984083 | SLC22A8 | c.683T>G (p.Leu228Arg) c.314T>G (p.Leu105Arg) n.501T>G n.404T>G n.523T>G c.410T>G (p.Leu137Arg) | |
| 11 | g.62998999A>G | CA380984085 | SLC22A8 | c.683T>C (p.Leu228Pro) c.314T>C (p.Leu105Pro) n.501T>C n.404T>C n.523T>C c.410T>C (p.Leu137Pro) | |
| 11 | g.62998999A>T | CA380984080 | SLC22A8 | c.683T>A (p.Leu228Gln) c.314T>A (p.Leu105Gln) n.501T>A n.404T>A n.523T>A c.410T>A (p.Leu137Gln) | |
| 11 | g.62999000G>A | CA474857150 | SLC22A8 | c.682C>T (p.Leu228=) c.313C>T (p.Leu105=) n.500C>T n.403C>T n.522C>T c.409C>T (p.Leu137=) | |
| 11 | g.62999000G>C | CA380984087 | SLC22A8 | c.682C>G (p.Leu228Val) c.313C>G (p.Leu105Val) n.500C>G n.403C>G n.522C>G c.409C>G (p.Leu137Val) | |
| 11 | g.62999000G>T | CA380984089 | SLC22A8 | c.682C>A (p.Leu228Met) c.313C>A (p.Leu105Met) n.500C>A n.403C>A n.522C>A c.409C>A (p.Leu137Met) | |
| 11 | g.62999001G>A | CA6059864 | SLC22A8 | c.681C>T (p.Gly227=) c.312C>T (p.Gly104=) n.499C>T n.402C>T n.521C>T c.408C>T (p.Gly136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62999001G>C | CA474857154 | SLC22A8 | c.681C>G (p.Gly227=) c.312C>G (p.Gly104=) n.499C>G n.402C>G n.521C>G c.408C>G (p.Gly136=) | |
| 11 | g.62999001G= | CA1978015920 | SLC22A8 | c.681C= (p.Gly227=) c.312C= (p.Gly104=) n.499C= n.402C= n.521C= c.408C= (p.Gly136=) | |
| 11 | g.62999001G>T | CA474857156 | SLC22A8 | c.681C>A (p.Gly227=) c.312C>A (p.Gly104=) n.499C>A n.402C>A n.521C>A c.408C>A (p.Gly136=) | |
| 11 | g.62999002C>A | CA380984093 | SLC22A8 | c.680G>T (p.Gly227Val) c.311G>T (p.Gly104Val) n.498G>T n.401G>T n.520G>T c.407G>T (p.Gly136Val) | |
| 11 | g.62999002C= | CA1978015923 | SLC22A8 | c.680G= (p.Gly227=) c.311G= (p.Gly104=) n.498G= n.401G= n.520G= c.407G= (p.Gly136=) | |
| 11 | g.62999002C>G | CA380984095 | SLC22A8 | c.680G>C (p.Gly227Ala) c.311G>C (p.Gly104Ala) n.498G>C n.401G>C n.520G>C c.407G>C (p.Gly136Ala) | |
| 11 | g.62999002C>T | CA223625811 | SLC22A8 | c.680G>A (p.Gly227Asp) c.311G>A (p.Gly104Asp) n.498G>A n.401G>A n.520G>A c.407G>A (p.Gly136Asp) | dbSNP |
| 11 | g.62999003C>A | CA380984098 | SLC22A8 | c.679G>T (p.Gly227Cys) c.310G>T (p.Gly104Cys) n.497G>T n.400G>T n.519G>T c.406G>T (p.Gly136Cys) | |
| 11 | g.62999003C= | CA1978015926 | SLC22A8 | c.679G= (p.Gly227=) c.310G= (p.Gly104=) n.497G= n.400G= n.519G= c.406G= (p.Gly136=) | |
| 11 | g.62999003C>G | CA380984100 | SLC22A8 | c.679G>C (p.Gly227Arg) c.310G>C (p.Gly104Arg) n.497G>C n.400G>C n.519G>C c.406G>C (p.Gly136Arg) | |
| 11 | g.62999003C>T | CA6059865 | SLC22A8 | c.679G>A (p.Gly227Ser) c.310G>A (p.Gly104Ser) n.497G>A n.400G>A n.519G>A c.406G>A (p.Gly136Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999004G>A | CA6059866 | SLC22A8 | c.678C>T (p.Pro226=) c.309C>T (p.Pro103=) n.496C>T n.399C>T n.518C>T c.405C>T (p.Pro135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999004G>C | CA474857175 | SLC22A8 | c.678C>G (p.Pro226=) c.309C>G (p.Pro103=) n.496C>G n.399C>G n.518C>G c.405C>G (p.Pro135=) | |
| 11 | g.62999004G= | CA1978015927 | SLC22A8 | c.678C= (p.Pro226=) c.309C= (p.Pro103=) n.496C= n.399C= n.518C= c.405C= (p.Pro135=) | |
| 11 | g.62999004G>T | CA474857174 | SLC22A8 | c.678C>A (p.Pro226=) c.309C>A (p.Pro103=) n.496C>A n.399C>A n.518C>A c.405C>A (p.Pro135=) | gnomAD v4 |
| 11 | g.62999005G>A | CA380984104 | SLC22A8 | c.677C>T (p.Pro226Leu) c.308C>T (p.Pro103Leu) n.495C>T n.398C>T n.517C>T c.404C>T (p.Pro135Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999005G>C | CA380984107 | SLC22A8 | c.677C>G (p.Pro226Arg) c.308C>G (p.Pro103Arg) n.495C>G n.398C>G n.517C>G c.404C>G (p.Pro135Arg) | |
| 11 | g.62999005G= | CA1978015931 | SLC22A8 | c.677C= (p.Pro226=) c.308C= (p.Pro103=) n.495C= n.398C= n.517C= c.404C= (p.Pro135=) | |
| 11 | g.62999005G>T | CA380984108 | SLC22A8 | c.677C>A (p.Pro226His) c.308C>A (p.Pro103His) n.495C>A n.398C>A n.517C>A c.404C>A (p.Pro135His) | |
| 11 | g.62999006G>A | CA380984117 | SLC22A8 | c.676C>T (p.Pro226Ser) c.307C>T (p.Pro103Ser) n.494C>T n.397C>T n.516C>T c.403C>T (p.Pro135Ser) | |
| 11 | g.62999006G>C | CA380984115 | SLC22A8 | c.676C>G (p.Pro226Ala) c.307C>G (p.Pro103Ala) n.494C>G n.397C>G n.516C>G c.403C>G (p.Pro135Ala) | |
| 11 | g.62999006G>T | CA380984114 | SLC22A8 | c.676C>A (p.Pro226Thr) c.307C>A (p.Pro103Thr) n.494C>A n.397C>A n.516C>A c.403C>A (p.Pro135Thr) | |
| 11 | g.62999007C>A | CA474857188 | SLC22A8 | c.675G>T (p.Leu225=) c.306G>T (p.Leu102=) n.493G>T n.396G>T n.515G>T c.402G>T (p.Leu134=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62999007C= | CA1978015939 | SLC22A8 | c.675G= (p.Leu225=) c.306G= (p.Leu102=) n.493G= n.396G= n.515G= c.402G= (p.Leu134=) | |
| 11 | g.62999007C>G | CA6059867 | SLC22A8 | c.675G>C (p.Leu225=) c.306G>C (p.Leu102=) n.493G>C n.396G>C n.515G>C c.402G>C (p.Leu134=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62999007C>T | CA474857192 | SLC22A8 | c.675G>A (p.Leu225=) c.306G>A (p.Leu102=) n.493G>A n.396G>A n.515G>A c.402G>A (p.Leu134=) | gnomAD v4 |
| 11 | g.62999008A>C | CA380984120 | SLC22A8 | c.674T>G (p.Leu225Arg) c.305T>G (p.Leu102Arg) n.492T>G n.395T>G n.514T>G c.401T>G (p.Leu134Arg) | |
| 11 | g.62999008A>G | CA380984123 | SLC22A8 | c.674T>C (p.Leu225Pro) c.305T>C (p.Leu102Pro) n.492T>C n.395T>C n.514T>C c.401T>C (p.Leu134Pro) | gnomAD v4 |
| 11 | g.62999008A>T | CA380984124 | SLC22A8 | c.674T>A (p.Leu225Gln) c.305T>A (p.Leu102Gln) n.492T>A n.395T>A n.514T>A c.401T>A (p.Leu134Gln) | |
| 11 | g.62999009G>A | CA474857204 | SLC22A8 | c.673C>T (p.Leu225=) c.304C>T (p.Leu102=) n.491C>T n.394C>T n.513C>T c.400C>T (p.Leu134=) | |
| 11 | g.62999009G>C | CA380984126 | SLC22A8 | c.673C>G (p.Leu225Val) c.304C>G (p.Leu102Val) n.491C>G n.394C>G n.513C>G c.400C>G (p.Leu134Val) | |
| 11 | g.62999009G>T | CA380984129 | SLC22A8 | c.673C>A (p.Leu225Met) c.304C>A (p.Leu102Met) n.491C>A n.394C>A n.513C>A c.400C>A (p.Leu134Met) | |
| 11 | g.62999010A>C | CA380984132 | SLC22A8 | c.672T>G (p.Ile224Met) c.303T>G (p.Ile101Met) n.490T>G n.393T>G n.512T>G c.399T>G (p.Ile133Met) | |
| 11 | g.62999010A>G | CA474857216 | SLC22A8 | c.672T>C (p.Ile224=) c.303T>C (p.Ile101=) n.490T>C n.393T>C n.512T>C c.399T>C (p.Ile133=) | |
| 11 | g.62999010A>T | CA474857223 | SLC22A8 | c.672T>A (p.Ile224=) c.303T>A (p.Ile101=) n.490T>A n.393T>A n.512T>A c.399T>A (p.Ile133=) | |
| 11 | g.62999011A>C | CA380984135 | SLC22A8 | c.671T>G (p.Ile224Ser) c.302T>G (p.Ile101Ser) n.489T>G n.392T>G n.511T>G c.398T>G (p.Ile133Ser) | dbSNP COSMIC |
| 11 | g.62999011A>G | CA380984137 | SLC22A8 | c.671T>C (p.Ile224Thr) c.302T>C (p.Ile101Thr) n.489T>C n.392T>C n.511T>C c.398T>C (p.Ile133Thr) | gnomAD v4 |
| 11 | g.62999011A>T | CA380984141 | SLC22A8 | c.671T>A (p.Ile224Asn) c.302T>A (p.Ile101Asn) n.489T>A n.392T>A n.511T>A c.398T>A (p.Ile133Asn) | |
| 11 | g.62999012T>A | CA380984144 | SLC22A8 | c.670A>T (p.Ile224Phe) c.301A>T (p.Ile101Phe) n.488A>T n.391A>T n.510A>T c.397A>T (p.Ile133Phe) | |
| 11 | g.62999012T>C | CA380984146 | SLC22A8 | c.670A>G (p.Ile224Val) c.301A>G (p.Ile101Val) n.488A>G n.391A>G n.510A>G c.397A>G (p.Ile133Val) | gnomAD v4 |
| 11 | g.62999012T>G | CA380984148 | SLC22A8 | c.670A>C (p.Ile224Leu) c.301A>C (p.Ile101Leu) n.488A>C n.391A>C n.510A>C c.397A>C (p.Ile133Leu) | gnomAD v4 |
| 11 | g.62999013G>A | CA474857238 | SLC22A8 | c.669C>T (p.Phe223=) c.300C>T (p.Phe100=) n.487C>T n.390C>T n.509C>T c.396C>T (p.Phe132=) | |
| 11 | g.62999013G>C | CA380984151 | SLC22A8 | c.669C>G (p.Phe223Leu) c.300C>G (p.Phe100Leu) n.487C>G n.390C>G n.509C>G c.396C>G (p.Phe132Leu) | |
| 11 | g.62999013G= | CA1978015942 | SLC22A8 | c.669C= (p.Phe223=) c.300C= (p.Phe100=) n.487C= n.390C= n.509C= c.396C= (p.Phe132=) | |
| 11 | g.62999013G>T | CA6059868 | SLC22A8 | c.669C>A (p.Phe223Leu) c.300C>A (p.Phe100Leu) n.487C>A n.390C>A n.509C>A c.396C>A (p.Phe132Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.62999014A>C | CA380984154 | SLC22A8 | c.668T>G (p.Phe223Cys) c.299T>G (p.Phe100Cys) n.486T>G n.389T>G n.508T>G c.395T>G (p.Phe132Cys) | |
| 11 | g.62999014A>G | CA380984156 | SLC22A8 | c.668T>C (p.Phe223Ser) c.299T>C (p.Phe100Ser) n.486T>C n.389T>C n.508T>C c.395T>C (p.Phe132Ser) | |
| 11 | g.62999014A>T | CA380984155 | SLC22A8 | c.668T>A (p.Phe223Tyr) c.299T>A (p.Phe100Tyr) n.486T>A n.389T>A n.508T>A c.395T>A (p.Phe132Tyr) | |
| 11 | g.62999015A>C | CA380984158 | SLC22A8 | c.667T>G (p.Phe223Val) c.298T>G (p.Phe100Val) n.485T>G n.388T>G n.507T>G c.394T>G (p.Phe132Val) | |
| 11 | g.62999015A>G | CA380984161 | SLC22A8 | c.667T>C (p.Phe223Leu) c.298T>C (p.Phe100Leu) n.485T>C n.388T>C n.507T>C c.394T>C (p.Phe132Leu) | |
| 11 | g.62999015A>T | CA380984159 | SLC22A8 | c.667T>A (p.Phe223Ile) c.298T>A (p.Phe100Ile) n.485T>A n.388T>A n.507T>A c.394T>A (p.Phe132Ile) | |
| 11 | g.62999016C>A | CA380984163 | SLC22A8 | c.666G>T (p.Gln222His) c.297G>T (p.Gln99His) n.484G>T n.387G>T n.506G>T c.393G>T (p.Gln131His) | |
| 11 | g.62999016C>G | CA380984164 | SLC22A8 | c.666G>C (p.Gln222His) c.297G>C (p.Gln99His) n.484G>C n.387G>C n.506G>C c.393G>C (p.Gln131His) | |
| 11 | g.62999016C>T | CA474857265 | SLC22A8 | c.666G>A (p.Gln222=) c.297G>A (p.Gln99=) n.484G>A n.387G>A n.506G>A c.393G>A (p.Gln131=) | |
| 11 | g.62999017T>A | CA380984166 | SLC22A8 | c.665A>T (p.Gln222Leu) c.296A>T (p.Gln99Leu) n.483A>T n.386A>T n.505A>T c.392A>T (p.Gln131Leu) | |
| 11 | g.62999017T>C | CA380984167 | SLC22A8 | c.665A>G (p.Gln222Arg) c.296A>G (p.Gln99Arg) n.483A>G n.386A>G n.505A>G c.392A>G (p.Gln131Arg) | |
| 11 | g.62999017T>G | CA380984168 | SLC22A8 | c.665A>C (p.Gln222Pro) c.296A>C (p.Gln99Pro) n.483A>C n.386A>C n.505A>C c.392A>C (p.Gln131Pro) | |
| 11 | g.62999018G>A | CA6059869 | SLC22A8 | c.664C>T (p.Gln222Ter) c.295C>T (p.Gln99Ter) n.482C>T n.385C>T n.504C>T c.391C>T (p.Gln131Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.62999018G>C | CA380984171 | SLC22A8 | c.664C>G (p.Gln222Glu) c.295C>G (p.Gln99Glu) n.482C>G n.385C>G n.504C>G c.391C>G (p.Gln131Glu) | |
| 11 | g.62999018G= | CA1978015944 | SLC22A8 | c.664C= (p.Gln222=) c.295C= (p.Gln99=) n.482C= n.385C= n.504C= c.391C= (p.Gln131=) | |
| 11 | g.62999018G>T | CA380984173 | SLC22A8 | c.664C>A (p.Gln222Lys) c.295C>A (p.Gln99Lys) n.482C>A n.385C>A n.504C>A c.391C>A (p.Gln131Lys) | |
| 11 | g.62999019G>A | CA6059870 | SLC22A8 | c.663C>T (p.Gly221=) c.294C>T (p.Gly98=) n.481C>T n.384C>T n.503C>T c.390C>T (p.Gly130=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62999019G>C | CA474857274 | SLC22A8 | c.663C>G (p.Gly221=) c.294C>G (p.Gly98=) n.481C>G n.384C>G n.503C>G c.390C>G (p.Gly130=) | |
| 11 | g.62999019G= | CA1978015951 | SLC22A8 | c.663C= (p.Gly221=) c.294C= (p.Gly98=) n.481C= n.384C= n.503C= c.390C= (p.Gly130=) | |
| 11 | g.62999019G>T | CA474857277 | SLC22A8 | c.663C>A (p.Gly221=) c.294C>A (p.Gly98=) n.481C>A n.384C>A n.503C>A c.390C>A (p.Gly130=) | |
| 11 | g.62999020C>A | CA380984179 | SLC22A8 | c.662G>T (p.Gly221Val) c.293G>T (p.Gly98Val) n.480G>T n.383G>T n.502G>T c.389G>T (p.Gly130Val) | |
| 11 | g.62999020C>G | CA380984177 | SLC22A8 | c.662G>C (p.Gly221Ala) c.293G>C (p.Gly98Ala) n.480G>C n.383G>C n.502G>C c.389G>C (p.Gly130Ala) | |
| 11 | g.62999020C>T | CA380984176 | SLC22A8 | c.662G>A (p.Gly221Asp) c.293G>A (p.Gly98Asp) n.480G>A n.383G>A n.502G>A c.389G>A (p.Gly130Asp) | |
| 11 | g.62999021del | CA645575935 | SLC22A8 | c.662del (p.Gly221AlafsTer20) c.293del (p.Gly98AlafsTer20) n.480del n.383del n.502del c.389del (p.Gly130AlafsTer20) | COSMIC |
| 11 | g.62999021C>A | CA380984181 | SLC22A8 | c.661G>T (p.Gly221Cys) c.292G>T (p.Gly98Cys) n.479G>T n.382G>T n.501G>T c.388G>T (p.Gly130Cys) | |
| 11 | g.62999021C>G | CA380984183 | SLC22A8 | c.661G>C (p.Gly221Arg) c.292G>C (p.Gly98Arg) n.479G>C n.382G>C n.501G>C c.388G>C (p.Gly130Arg) | |
| 11 | g.62999021C>T | CA380984184 | SLC22A8 | c.661G>A (p.Gly221Ser) c.292G>A (p.Gly98Ser) n.479G>A n.382G>A n.501G>A c.388G>A (p.Gly130Ser) | |
| 11 | g.62999022A>C | CA380984186 | SLC22A8 | c.660T>G (p.Phe220Leu) c.291T>G (p.Phe97Leu) n.478T>G n.381T>G n.500T>G c.387T>G (p.Phe129Leu) | |
| 11 | g.62999022A>G | CA474857291 | SLC22A8 | c.660T>C (p.Phe220=) c.291T>C (p.Phe97=) n.478T>C n.381T>C n.500T>C c.387T>C (p.Phe129=) | gnomAD v4 |
| 11 | g.62999022A>T | CA380984189 | SLC22A8 | c.660T>A (p.Phe220Leu) c.291T>A (p.Phe97Leu) n.478T>A n.381T>A n.500T>A c.387T>A (p.Phe129Leu) | |
| 11 | g.62999023A>C | CA380984190 | SLC22A8 | c.659T>G (p.Phe220Cys) c.290T>G (p.Phe97Cys) n.477T>G n.380T>G n.499T>G c.386T>G (p.Phe129Cys) | |
| 11 | g.62999023A>G | CA380984191 | SLC22A8 | c.659T>C (p.Phe220Ser) c.290T>C (p.Phe97Ser) n.477T>C n.380T>C n.499T>C c.386T>C (p.Phe129Ser) | |
| 11 | g.62999023A>T | CA380984192 | SLC22A8 | c.659T>A (p.Phe220Tyr) c.290T>A (p.Phe97Tyr) n.477T>A n.380T>A n.499T>A c.386T>A (p.Phe129Tyr) | |
| 11 | g.62999024A>C | CA380984194 | SLC22A8 | c.658T>G (p.Phe220Val) c.289T>G (p.Phe97Val) n.476T>G n.379T>G n.498T>G c.385T>G (p.Phe129Val) | |
| 11 | g.62999024A>G | CA380984196 | SLC22A8 | c.658T>C (p.Phe220Leu) c.289T>C (p.Phe97Leu) n.476T>C n.379T>C n.498T>C c.385T>C (p.Phe129Leu) | |
| 11 | g.62999024A>T | CA380984197 | SLC22A8 | c.658T>A (p.Phe220Ile) c.289T>A (p.Phe97Ile) n.476T>A n.379T>A n.498T>A c.385T>A (p.Phe129Ile) | |
| 11 | g.62999025G>A | CA474857313 | SLC22A8 | c.657C>T (p.Thr219=) c.288C>T (p.Thr96=) n.475C>T n.378C>T n.497C>T c.384C>T (p.Thr128=) | dbSNP |
| 11 | g.62999025G>C | CA474857319 | SLC22A8 | c.657C>G (p.Thr219=) c.288C>G (p.Thr96=) n.475C>G n.378C>G n.497C>G c.384C>G (p.Thr128=) | |
| 11 | g.62999025G= | CA1978015956 | SLC22A8 | c.657C= (p.Thr219=) c.288C= (p.Thr96=) n.475C= n.378C= n.497C= c.384C= (p.Thr128=) | |
| 11 | g.62999025G>T | CA474857321 | SLC22A8 | c.657C>A (p.Thr219=) c.288C>A (p.Thr96=) n.475C>A n.378C>A n.497C>A c.384C>A (p.Thr128=) | gnomAD v4 |
| 11 | g.62999026G>A | CA380984199 | SLC22A8 | c.656C>T (p.Thr219Ile) c.287C>T (p.Thr96Ile) n.474C>T n.377C>T n.496C>T c.383C>T (p.Thr128Ile) | |
| 11 | g.62999026G>C | CA380984201 | SLC22A8 | c.656C>G (p.Thr219Ser) c.287C>G (p.Thr96Ser) n.474C>G n.377C>G n.496C>G c.383C>G (p.Thr128Ser) | |
| 11 | g.62999026G>T | CA380984198 | SLC22A8 | c.656C>A (p.Thr219Asn) c.287C>A (p.Thr96Asn) n.474C>A n.377C>A n.496C>A c.383C>A (p.Thr128Asn) | |
| 11 | g.62999027T>A | CA380984203 | SLC22A8 | c.655A>T (p.Thr219Ser) c.286A>T (p.Thr96Ser) n.473A>T n.376A>T n.495A>T c.382A>T (p.Thr128Ser) | |
| 11 | g.62999027T>C | CA380984204 | SLC22A8 | c.655A>G (p.Thr219Ala) c.286A>G (p.Thr96Ala) n.473A>G n.376A>G n.495A>G c.382A>G (p.Thr128Ala) | |
| 11 | g.62999027T>G | CA380984206 | SLC22A8 | c.655A>C (p.Thr219Pro) c.286A>C (p.Thr96Pro) n.473A>C n.376A>C n.495A>C c.382A>C (p.Thr128Pro) | |
| 11 | g.62999027dup | CA2614035505 | SLC22A8 | c.655dup (p.Thr219AsnfsTer?) c.286dup (p.Thr96AsnfsTer?) n.473dup n.376dup n.495dup c.382dup (p.Thr128AsnfsTer?) | gnomAD v4 |
| 11 | g.62999028G>A | CA474857333 | SLC22A8 | c.654C>T (p.Tyr218=) c.285C>T (p.Tyr95=) n.472C>T n.375C>T n.494C>T c.381C>T (p.Tyr127=) | gnomAD v4 |
| 11 | g.62999028G>C | CA380984207 | SLC22A8 | c.654C>G (p.Tyr218Ter) c.285C>G (p.Tyr95Ter) n.472C>G n.375C>G n.494C>G c.381C>G (p.Tyr127Ter) | |
| 11 | g.62999028G>T | CA380984208 | SLC22A8 | c.654C>A (p.Tyr218Ter) c.285C>A (p.Tyr95Ter) n.472C>A n.375C>A n.494C>A c.381C>A (p.Tyr127Ter) | |
| 11 | g.62999029T>A | CA380984212 | SLC22A8 | c.653A>T (p.Tyr218Phe) c.284A>T (p.Tyr95Phe) n.471A>T n.374A>T n.493A>T c.380A>T (p.Tyr127Phe) | |
| 11 | g.62999029T>C | CA380984209 | SLC22A8 | c.653A>G (p.Tyr218Cys) c.284A>G (p.Tyr95Cys) n.471A>G n.374A>G n.493A>G c.380A>G (p.Tyr127Cys) | |
| 11 | g.62999029T>G | CA380984211 | SLC22A8 | c.653A>C (p.Tyr218Ser) c.284A>C (p.Tyr95Ser) n.471A>C n.374A>C n.493A>C c.380A>C (p.Tyr127Ser) | |
| 11 | g.62999030A= | CA1978015960 | SLC22A8 | c.652T= (p.Tyr218=) c.283T= (p.Tyr95=) n.470T= n.373T= n.492T= c.379T= (p.Tyr127=) | |
| 11 | g.62999030A>C | CA380984214 | SLC22A8 | c.652T>G (p.Tyr218Asp) c.283T>G (p.Tyr95Asp) n.470T>G n.373T>G n.492T>G c.379T>G (p.Tyr127Asp) | |
| 11 | g.62999030A>G | CA380984216 | SLC22A8 | c.652T>C (p.Tyr218His) c.283T>C (p.Tyr95His) n.470T>C n.373T>C n.492T>C c.379T>C (p.Tyr127His) | gnomAD v4 |
| 11 | g.62999030A>T | CA380984217 | SLC22A8 | c.652T>A (p.Tyr218Asn) c.283T>A (p.Tyr95Asn) n.470T>A n.373T>A n.492T>A c.379T>A (p.Tyr127Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62999031G>A | CA474857351 | SLC22A8 | c.651C>T (p.Cys217=) c.282C>T (p.Cys94=) n.469C>T n.372C>T n.491C>T c.378C>T (p.Cys126=) | |
| 11 | g.62999031G>C | CA380984219 | SLC22A8 | c.651C>G (p.Cys217Trp) c.282C>G (p.Cys94Trp) n.469C>G n.372C>G n.491C>G c.378C>G (p.Cys126Trp) | |
| 11 | g.62999031G>T | CA380984220 | SLC22A8 | c.651C>A (p.Cys217Ter) c.282C>A (p.Cys94Ter) n.469C>A n.372C>A n.491C>A c.378C>A (p.Cys126Ter) | |
| 11 | g.62999032C>A | CA380984223 | SLC22A8 | c.650G>T (p.Cys217Phe) c.281G>T (p.Cys94Phe) n.468G>T n.371G>T n.490G>T c.377G>T (p.Cys126Phe) | |
| 11 | g.62999032C>G | CA380984226 | SLC22A8 | c.650G>C (p.Cys217Ser) c.281G>C (p.Cys94Ser) n.468G>C n.371G>C n.490G>C c.377G>C (p.Cys126Ser) | |
| 11 | g.62999032C>T | CA380984224 | SLC22A8 | c.650G>A (p.Cys217Tyr) c.281G>A (p.Cys94Tyr) n.468G>A n.371G>A n.490G>A c.377G>A (p.Cys126Tyr) | |
| 11 | g.62999033A= | CA1978015961 | SLC22A8 | c.649T= (p.Cys217=) c.280T= (p.Cys94=) n.467T= n.370T= n.489T= c.376T= (p.Cys126=) | |
| 11 | g.62999033A>C | CA380984227 | SLC22A8 | c.649T>G (p.Cys217Gly) c.280T>G (p.Cys94Gly) n.467T>G n.370T>G n.489T>G c.376T>G (p.Cys126Gly) | |
| 11 | g.62999033A>G | CA6059871 | SLC22A8 | c.649T>C (p.Cys217Arg) c.280T>C (p.Cys94Arg) n.467T>C n.370T>C n.489T>C c.376T>C (p.Cys126Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62999033A>T | CA380984229 | SLC22A8 | c.649T>A (p.Cys217Ser) c.280T>A (p.Cys94Ser) n.467T>A n.370T>A n.489T>A c.376T>A (p.Cys126Ser) | |
| 11 | g.62999034G>A | CA474857367 | SLC22A8 | c.648C>T (p.Tyr216=) c.279C>T (p.Tyr93=) n.466C>T n.369C>T n.488C>T c.375C>T (p.Tyr125=) | dbSNP |
| 11 | g.62999034G>C | CA380984231 | SLC22A8 | c.648C>G (p.Tyr216Ter) c.279C>G (p.Tyr93Ter) n.466C>G n.369C>G n.488C>G c.375C>G (p.Tyr125Ter) | dbSNP |
| 11 | g.62999034G= | CA1978015966 | SLC22A8 | c.648C= (p.Tyr216=) c.279C= (p.Tyr93=) n.466C= n.369C= n.488C= c.375C= (p.Tyr125=) | |
| 11 | g.62999034G>T | CA380984232 | SLC22A8 | c.648C>A (p.Tyr216Ter) c.279C>A (p.Tyr93Ter) n.466C>A n.369C>A n.488C>A c.375C>A (p.Tyr125Ter) | |
| 11 | g.62999035T>A | CA380984233 | SLC22A8 | c.647A>T (p.Tyr216Phe) c.278A>T (p.Tyr93Phe) n.465A>T n.368A>T n.487A>T c.374A>T (p.Tyr125Phe) | |
| 11 | g.62999035T>C | CA380984234 | SLC22A8 | c.647A>G (p.Tyr216Cys) c.278A>G (p.Tyr93Cys) n.465A>G n.368A>G n.487A>G c.374A>G (p.Tyr125Cys) | |
| 11 | g.62999035T>G | CA380984236 | SLC22A8 | c.647A>C (p.Tyr216Ser) c.278A>C (p.Tyr93Ser) n.465A>C n.368A>C n.487A>C c.374A>C (p.Tyr125Ser) | |
| 11 | g.62999036A>C | CA380984237 | SLC22A8 | c.646T>G (p.Tyr216Asp) c.277T>G (p.Tyr93Asp) n.464T>G n.367T>G n.486T>G c.373T>G (p.Tyr125Asp) | |
| 11 | g.62999036A>G | CA380984239 | SLC22A8 | c.646T>C (p.Tyr216His) c.277T>C (p.Tyr93His) n.464T>C n.367T>C n.486T>C c.373T>C (p.Tyr125His) | |
| 11 | g.62999036A>T | CA380984241 | SLC22A8 | c.646T>A (p.Tyr216Asn) c.277T>A (p.Tyr93Asn) n.464T>A n.367T>A n.486T>A c.373T>A (p.Tyr125Asn) | |
| 11 | g.62999036dup | CA2614035506 | SLC22A8 | c.646dup (p.Tyr216LeufsTer?) c.277dup (p.Tyr93LeufsTer?) n.464dup n.367dup n.486dup c.373dup (p.Tyr125LeufsTer?) | gnomAD v4 |
| 11 | g.62999037C>A | CA474857381 | SLC22A8 | c.645G>T (p.Gly215=) c.276G>T (p.Gly92=) n.463G>T n.366G>T n.485G>T c.372G>T (p.Gly124=) | |
| 11 | g.62999037C>G | CA474857383 | SLC22A8 | c.645G>C (p.Gly215=) c.276G>C (p.Gly92=) n.463G>C n.366G>C n.485G>C c.372G>C (p.Gly124=) | |
| 11 | g.62999037C>T | CA474857386 | SLC22A8 | c.645G>A (p.Gly215=) c.276G>A (p.Gly92=) n.463G>A n.366G>A n.485G>A c.372G>A (p.Gly124=) | |
| 11 | g.62999038C>A | CA380984245 | SLC22A8 | c.644G>T (p.Gly215Val) c.275G>T (p.Gly92Val) n.462G>T n.365G>T n.484G>T c.371G>T (p.Gly124Val) | dbSNP |
| 11 | g.62999038C= | CA1978015970 | SLC22A8 | c.644G= (p.Gly215=) c.275G= (p.Gly92=) n.462G= n.365G= n.484G= c.371G= (p.Gly124=) | |
| 11 | g.62999038C>G | CA6059872 | SLC22A8 | c.644G>C (p.Gly215Ala) c.275G>C (p.Gly92Ala) n.462G>C n.365G>C n.484G>C c.371G>C (p.Gly124Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999038C>T | CA380984243 | SLC22A8 | c.644G>A (p.Gly215Glu) c.275G>A (p.Gly92Glu) n.462G>A n.365G>A n.484G>A c.371G>A (p.Gly124Glu) | gnomAD v4 |
| 11 | g.62999039C>A | CA380984247 | SLC22A8 | c.643G>T (p.Gly215Trp) c.274G>T (p.Gly92Trp) n.461G>T n.364G>T n.483G>T c.370G>T (p.Gly124Trp) | |
| 11 | g.62999039C= | CA1978015974 | SLC22A8 | c.643G= (p.Gly215=) c.274G= (p.Gly92=) n.461G= n.364G= n.483G= c.370G= (p.Gly124=) | |
| 11 | g.62999039C>G | CA380984250 | SLC22A8 | c.643G>C (p.Gly215Arg) c.274G>C (p.Gly92Arg) n.461G>C n.364G>C n.483G>C c.370G>C (p.Gly124Arg) | |
| 11 | g.62999039C>T | CA380984253 | SLC22A8 | c.643G>A (p.Gly215Arg) c.274G>A (p.Gly92Arg) n.461G>A n.364G>A n.483G>A c.370G>A (p.Gly124Arg) | dbSNP gnomAD v4 |
| 11 | g.62999040G>A | CA6059873 | SLC22A8 | c.642C>T (p.Leu214=) c.273C>T (p.Leu91=) n.460C>T n.363C>T n.482C>T c.369C>T (p.Leu123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999040G>C | CA474857396 | SLC22A8 | c.642C>G (p.Leu214=) c.273C>G (p.Leu91=) n.460C>G n.363C>G n.482C>G c.369C>G (p.Leu123=) | |
| 11 | g.62999040G= | CA1978015979 | SLC22A8 | c.642C= (p.Leu214=) c.273C= (p.Leu91=) n.460C= n.363C= n.482C= c.369C= (p.Leu123=) | |
| 11 | g.62999040G>T | CA6059874 | SLC22A8 | c.642C>A (p.Leu214=) c.273C>A (p.Leu91=) n.460C>A n.363C>A n.482C>A c.369C>A (p.Leu123=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.62999041A>C | CA380984263 | SLC22A8 | c.641T>G (p.Leu214Arg) c.272T>G (p.Leu91Arg) n.459T>G n.362T>G n.481T>G c.368T>G (p.Leu123Arg) | gnomAD v4 |
| 11 | g.62999041A>G | CA380984262 | SLC22A8 | c.641T>C (p.Leu214Pro) c.272T>C (p.Leu91Pro) n.459T>C n.362T>C n.481T>C c.368T>C (p.Leu123Pro) | |
| 11 | g.62999041A>T | CA380984258 | SLC22A8 | c.641T>A (p.Leu214His) c.272T>A (p.Leu91His) n.459T>A n.362T>A n.481T>A c.368T>A (p.Leu123His) | |
| 11 | g.62999042G>A | CA380984266 | SLC22A8 | c.640C>T (p.Leu214Phe) c.271C>T (p.Leu91Phe) n.458C>T n.361C>T n.480C>T c.367C>T (p.Leu123Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999042G>C | CA6059875 | SLC22A8 | c.640C>G (p.Leu214Val) c.271C>G (p.Leu91Val) n.458C>G n.361C>G n.480C>G c.367C>G (p.Leu123Val) | dbSNP ExAC gnomAD v4 |
| 11 | g.62999042G= | CA1978015981 | SLC22A8 | c.640C= (p.Leu214=) c.271C= (p.Leu91=) n.458C= n.361C= n.480C= c.367C= (p.Leu123=) | |
| 11 | g.62999042G>T | CA380984268 | SLC22A8 | c.640C>A (p.Leu214Ile) c.271C>A (p.Leu91Ile) n.458C>A n.361C>A n.480C>A c.367C>A (p.Leu123Ile) | |
| 11 | g.62999043T>A | CA474857414 | SLC22A8 | c.639A>T (p.Ala213=) c.270A>T (p.Ala90=) n.457A>T n.360A>T n.479A>T c.366A>T (p.Ala122=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62999043T>C | CA474857419 | SLC22A8 | c.639A>G (p.Ala213=) c.270A>G (p.Ala90=) n.457A>G n.360A>G n.479A>G c.366A>G (p.Ala122=) | gnomAD v4 |
| 11 | g.62999043T>G | CA474857416 | SLC22A8 | c.639A>C (p.Ala213=) c.270A>C (p.Ala90=) n.457A>C n.360A>C n.479A>C c.366A>C (p.Ala122=) | |
| 11 | g.62999043T= | CA1978015985 | SLC22A8 | c.639A= (p.Ala213=) c.270A= (p.Ala90=) n.457A= n.360A= n.479A= c.366A= (p.Ala122=) | |
| 11 | g.62999044G>A | CA380984269 | SLC22A8 | c.638C>T (p.Ala213Val) c.269C>T (p.Ala90Val) n.456C>T n.359C>T n.478C>T c.365C>T (p.Ala122Val) | |
| 11 | g.62999044G>C | CA380984271 | SLC22A8 | c.638C>G (p.Ala213Gly) c.269C>G (p.Ala90Gly) n.456C>G n.359C>G n.478C>G c.365C>G (p.Ala122Gly) | |
| 11 | g.62999044G>T | CA380984273 | SLC22A8 | c.638C>A (p.Ala213Glu) c.269C>A (p.Ala90Glu) n.456C>A n.359C>A n.478C>A c.365C>A (p.Ala122Glu) | |
| 11 | g.62999045C>A | CA380984279 | SLC22A8 | c.637G>T (p.Ala213Ser) c.268G>T (p.Ala90Ser) n.455G>T n.358G>T n.477G>T c.364G>T (p.Ala122Ser) | |
| 11 | g.62999045C>G | CA380984274 | SLC22A8 | c.637G>C (p.Ala213Pro) c.268G>C (p.Ala90Pro) n.455G>C n.358G>C n.477G>C c.364G>C (p.Ala122Pro) | COSMIC |
| 11 | g.62999045C>T | CA380984277 | SLC22A8 | c.637G>A (p.Ala213Thr) c.268G>A (p.Ala90Thr) n.455G>A n.358G>A n.477G>A c.364G>A (p.Ala122Thr) | |
| 11 | g.62999046T>A | CA474857434 | SLC22A8 | c.636A>T (p.Thr212=) c.267A>T (p.Thr89=) n.454A>T n.357A>T n.476A>T c.363A>T (p.Thr121=) | gnomAD v4 |
| 11 | g.62999046T>C | CA474857439 | SLC22A8 | c.636A>G (p.Thr212=) c.267A>G (p.Thr89=) n.454A>G n.357A>G n.476A>G c.363A>G (p.Thr121=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62999046T>G | CA474857441 | SLC22A8 | c.636A>C (p.Thr212=) c.267A>C (p.Thr89=) n.454A>C n.357A>C n.476A>C c.363A>C (p.Thr121=) | |
| 11 | g.62999046T= | CA1978015989 | SLC22A8 | c.636A= (p.Thr212=) c.267A= (p.Thr89=) n.454A= n.357A= n.476A= c.363A= (p.Thr121=) | |
| 11 | g.62999047G>A | CA380984282 | SLC22A8 | c.635C>T (p.Thr212Ile) c.266C>T (p.Thr89Ile) n.453C>T n.356C>T n.475C>T c.362C>T (p.Thr121Ile) | ClinVar |
| 11 | g.62999047G>C | CA380984285 | SLC22A8 | c.635C>G (p.Thr212Arg) c.266C>G (p.Thr89Arg) n.453C>G n.356C>G n.475C>G c.362C>G (p.Thr121Arg) | |
| 11 | g.62999047G>T | CA380984286 | SLC22A8 | c.635C>A (p.Thr212Lys) c.266C>A (p.Thr89Lys) n.453C>A n.356C>A n.475C>A c.362C>A (p.Thr121Lys) | |
| 11 | g.62999048T>A | CA380984290 | SLC22A8 | c.634A>T (p.Thr212Ser) c.265A>T (p.Thr89Ser) n.452A>T n.355A>T n.474A>T c.361A>T (p.Thr121Ser) | |
| 11 | g.62999048T>C | CA6059876 | SLC22A8 | c.634A>G (p.Thr212Ala) c.265A>G (p.Thr89Ala) n.452A>G n.355A>G n.474A>G c.361A>G (p.Thr121Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999048T>G | CA380984293 | SLC22A8 | c.634A>C (p.Thr212Pro) c.265A>C (p.Thr89Pro) n.452A>C n.355A>C n.474A>C c.361A>C (p.Thr121Pro) | |
| 11 | g.62999048T= | CA1978015992 | SLC22A8 | c.634A= (p.Thr212=) c.265A= (p.Thr89=) n.452A= n.355A= n.474A= c.361A= (p.Thr121=) | |
| 11 | g.62999049C>A | CA474857456 | SLC22A8 | c.633G>T (p.Ser211=) c.264G>T (p.Ser88=) n.451G>T n.354G>T n.473G>T c.360G>T (p.Ser120=) | |
| 11 | g.62999049C= | CA1978015998 | SLC22A8 | c.633G= (p.Ser211=) c.264G= (p.Ser88=) n.451G= n.354G= n.473G= c.360G= (p.Ser120=) | |
| 11 | g.62999049C>G | CA474857459 | SLC22A8 | c.633G>C (p.Ser211=) c.264G>C (p.Ser88=) n.451G>C n.354G>C n.473G>C c.360G>C (p.Ser120=) | |
| 11 | g.62999049C>T | CA6059877 | SLC22A8 | c.633G>A (p.Ser211=) c.264G>A (p.Ser88=) n.451G>A n.354G>A n.473G>A c.360G>A (p.Ser120=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999050G>A | CA223625875 | SLC22A8 | c.632C>T (p.Ser211Leu) c.263C>T (p.Ser88Leu) n.450C>T n.353C>T n.472C>T c.359C>T (p.Ser120Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.62999050G>C | CA380984298 | SLC22A8 | c.632C>G (p.Ser211Trp) c.263C>G (p.Ser88Trp) n.450C>G n.353C>G n.472C>G c.359C>G (p.Ser120Trp) | |
| 11 | g.62999050G= | CA1978016002 | SLC22A8 | c.632C= (p.Ser211=) c.263C= (p.Ser88=) n.450C= n.353C= n.472C= c.359C= (p.Ser120=) | |
| 11 | g.62999050G>T | CA380984299 | SLC22A8 | c.632C>A (p.Ser211Ter) c.263C>A (p.Ser88Ter) n.450C>A n.353C>A n.472C>A c.359C>A (p.Ser120Ter) | |
| 11 | g.62999051A>C | CA380984302 | SLC22A8 | c.631T>G (p.Ser211Ala) c.262T>G (p.Ser88Ala) n.449T>G n.352T>G n.471T>G c.358T>G (p.Ser120Ala) | |
| 11 | g.62999051A>G | CA380984304 | SLC22A8 | c.631T>C (p.Ser211Pro) c.262T>C (p.Ser88Pro) n.449T>C n.352T>C n.471T>C c.358T>C (p.Ser120Pro) | |
| 11 | g.62999051A>T | CA380984306 | SLC22A8 | c.631T>A (p.Ser211Thr) c.262T>A (p.Ser88Thr) n.449T>A n.352T>A n.471T>A c.358T>A (p.Ser120Thr) | |
| 11 | g.62999052C>A | CA380984309 | SLC22A8 | c.630G>T (p.Met210Ile) c.261G>T (p.Met87Ile) n.448G>T n.351G>T n.470G>T c.357G>T (p.Met119Ile) | |
| 11 | g.62999052C>G | CA380984313 | SLC22A8 | c.630G>C (p.Met210Ile) c.261G>C (p.Met87Ile) n.448G>C n.351G>C n.470G>C c.357G>C (p.Met119Ile) | |
| 11 | g.62999052C>T | CA380984311 | SLC22A8 | c.630G>A (p.Met210Ile) c.261G>A (p.Met87Ile) n.448G>A n.351G>A n.470G>A c.357G>A (p.Met119Ile) | |
| 11 | g.62999053A= | CA1978016007 | SLC22A8 | c.629T= (p.Met210=) c.260T= (p.Met87=) n.447T= n.350T= n.469T= c.356T= (p.Met119=) | |
| 11 | g.62999053A>C | CA380984316 | SLC22A8 | c.629T>G (p.Met210Arg) c.260T>G (p.Met87Arg) n.447T>G n.350T>G n.469T>G c.356T>G (p.Met119Arg) | |
| 11 | g.62999053A>G | CA6059878 | SLC22A8 | c.629T>C (p.Met210Thr) c.260T>C (p.Met87Thr) n.447T>C n.350T>C n.469T>C c.356T>C (p.Met119Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999053A>T | CA380984319 | SLC22A8 | c.629T>A (p.Met210Lys) c.260T>A (p.Met87Lys) n.447T>A n.350T>A n.469T>A c.356T>A (p.Met119Lys) | |
| 11 | g.62999054T>A | CA380984322 | SLC22A8 | c.628A>T (p.Met210Leu) c.259A>T (p.Met87Leu) n.446A>T n.349A>T n.468A>T c.355A>T (p.Met119Leu) | |
| 11 | g.62999054T>C | CA380984324 | SLC22A8 | c.628A>G (p.Met210Val) c.259A>G (p.Met87Val) n.446A>G n.349A>G n.468A>G c.355A>G (p.Met119Val) | gnomAD v4 |
| 11 | g.62999054T>G | CA380984325 | SLC22A8 | c.628A>C (p.Met210Leu) c.259A>C (p.Met87Leu) n.446A>C n.349A>C n.468A>C c.355A>C (p.Met119Leu) | |
| 11 | g.62999055G>A | CA474857490 | SLC22A8 | c.627C>T (p.Ile209=) c.258C>T (p.Ile86=) n.445C>T n.348C>T n.467C>T c.354C>T (p.Ile118=) | gnomAD v4 |
| 11 | g.62999055G>C | CA380984328 | SLC22A8 | c.627C>G (p.Ile209Met) c.258C>G (p.Ile86Met) n.445C>G n.348C>G n.467C>G c.354C>G (p.Ile118Met) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62999055G= | CA1978016011 | SLC22A8 | c.627C= (p.Ile209=) c.258C= (p.Ile86=) n.445C= n.348C= n.467C= c.354C= (p.Ile118=) | |
| 11 | g.62999055G>T | CA474857492 | SLC22A8 | c.627C>A (p.Ile209=) c.258C>A (p.Ile86=) n.445C>A n.348C>A n.467C>A c.354C>A (p.Ile118=) | |
| 11 | g.62999056A= | CA1978016013 | SLC22A8 | c.626T= (p.Ile209=) c.257T= (p.Ile86=) n.444T= n.347T= n.466T= c.353T= (p.Ile118=) | |
| 11 | g.62999056A>C | CA380984330 | SLC22A8 | c.626T>G (p.Ile209Ser) c.257T>G (p.Ile86Ser) n.444T>G n.347T>G n.466T>G c.353T>G (p.Ile118Ser) | |
| 11 | g.62999056A>G | CA380984333 | SLC22A8 | c.626T>C (p.Ile209Thr) c.257T>C (p.Ile86Thr) n.444T>C n.347T>C n.466T>C c.353T>C (p.Ile118Thr) | |
| 11 | g.62999056A>T | CA380984335 | SLC22A8 | c.626T>A (p.Ile209Asn) c.257T>A (p.Ile86Asn) n.444T>A n.347T>A n.466T>A c.353T>A (p.Ile118Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999057T>A | CA380984337 | SLC22A8 | c.625A>T (p.Ile209Phe) c.256A>T (p.Ile86Phe) n.443A>T n.346A>T n.465A>T c.352A>T (p.Ile118Phe) | |
| 11 | g.62999057T>C | CA380984338 | SLC22A8 | c.625A>G (p.Ile209Val) c.256A>G (p.Ile86Val) n.443A>G n.346A>G n.465A>G c.352A>G (p.Ile118Val) | |
| 11 | g.62999057T>G | CA380984341 | SLC22A8 | c.625A>C (p.Ile209Leu) c.256A>C (p.Ile86Leu) n.443A>C n.346A>C n.465A>C c.352A>C (p.Ile118Leu) | |
| 11 | g.62999058G>A | CA474857502 | SLC22A8 | c.624C>T (p.Ala208=) c.255C>T (p.Ala85=) n.442C>T n.345C>T n.464C>T c.351C>T (p.Ala117=) | gnomAD v4 |
| 11 | g.62999058G>C | CA474857504 | SLC22A8 | c.624C>G (p.Ala208=) c.255C>G (p.Ala85=) n.442C>G n.345C>G n.464C>G c.351C>G (p.Ala117=) | |
| 11 | g.62999058G>T | CA474857506 | SLC22A8 | c.624C>A (p.Ala208=) c.255C>A (p.Ala85=) n.442C>A n.345C>A n.464C>A c.351C>A (p.Ala117=) | |
| 11 | g.62999059G>A | CA380984349 | SLC22A8 | c.623C>T (p.Ala208Val) c.254C>T (p.Ala85Val) n.441C>T n.344C>T n.463C>T c.350C>T (p.Ala117Val) | |
| 11 | g.62999059G>C | CA380984344 | SLC22A8 | c.623C>G (p.Ala208Gly) c.254C>G (p.Ala85Gly) n.441C>G n.344C>G n.463C>G c.350C>G (p.Ala117Gly) | |
| 11 | g.62999059G>T | CA380984346 | SLC22A8 | c.623C>A (p.Ala208Asp) c.254C>A (p.Ala85Asp) n.441C>A n.344C>A n.463C>A c.350C>A (p.Ala117Asp) | COSMIC |
| 11 | g.62999060C>A | CA380984350 | SLC22A8 | c.622G>T (p.Ala208Ser) c.253G>T (p.Ala85Ser) n.440G>T n.343G>T n.462G>T c.349G>T (p.Ala117Ser) | |
| 11 | g.62999060C>G | CA380984351 | SLC22A8 | c.622G>C (p.Ala208Pro) c.253G>C (p.Ala85Pro) n.440G>C n.343G>C n.462G>C c.349G>C (p.Ala117Pro) | |
| 11 | g.62999060C>T | CA380984352 | SLC22A8 | c.622G>A (p.Ala208Thr) c.253G>A (p.Ala85Thr) n.440G>A n.343G>A n.462G>A c.349G>A (p.Ala117Thr) | |
| 11 | g.62999061C>A | CA474857522 | SLC22A8 | c.621G>T (p.Arg207=) c.252G>T (p.Arg84=) n.439G>T n.342G>T n.461G>T c.348G>T (p.Arg116=) | |
| 11 | g.62999061C= | CA1978016017 | SLC22A8 | c.621G= (p.Arg207=) c.252G= (p.Arg84=) n.439G= n.342G= n.461G= c.348G= (p.Arg116=) | |
| 11 | g.62999061C>G | CA474857523 | SLC22A8 | c.621G>C (p.Arg207=) c.252G>C (p.Arg84=) n.439G>C n.342G>C n.461G>C c.348G>C (p.Arg116=) | |
| 11 | g.62999061C>T | CA6059879 | SLC22A8 | c.621G>A (p.Arg207=) c.252G>A (p.Arg84=) n.439G>A n.342G>A n.461G>A c.348G>A (p.Arg116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999062C>A | CA380984354 | SLC22A8 | c.620G>T (p.Arg207Leu) c.251G>T (p.Arg84Leu) n.438G>T n.341G>T n.460G>T c.347G>T (p.Arg116Leu) | |
| 11 | g.62999062C= | CA1978016023 | SLC22A8 | c.620G= (p.Arg207=) c.251G= (p.Arg84=) n.438G= n.341G= n.460G= c.347G= (p.Arg116=) | |
| 11 | g.62999062C>G | CA380984356 | SLC22A8 | c.620G>C (p.Arg207Pro) c.251G>C (p.Arg84Pro) n.438G>C n.341G>C n.460G>C c.347G>C (p.Arg116Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.62999062C>T | CA6059880 | SLC22A8 | c.620G>A (p.Arg207Gln) c.251G>A (p.Arg84Gln) n.438G>A n.341G>A n.460G>A c.347G>A (p.Arg116Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999063G>A | CA380984359 | SLC22A8 | c.619C>T (p.Arg207Trp) c.250C>T (p.Arg84Trp) n.437C>T n.340C>T n.459C>T c.346C>T (p.Arg116Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.62999063G>C | CA380984361 | SLC22A8 | c.619C>G (p.Arg207Gly) c.250C>G (p.Arg84Gly) n.437C>G n.340C>G n.459C>G c.346C>G (p.Arg116Gly) | |
| 11 | g.62999063G= | CA1978016028 | SLC22A8 | c.619C= (p.Arg207=) c.250C= (p.Arg84=) n.437C= n.340C= n.459C= c.346C= (p.Arg116=) | |
| 11 | g.62999063G>T | CA474857533 | SLC22A8 | c.619C>A (p.Arg207=) c.250C>A (p.Arg84=) n.437C>A n.340C>A n.459C>A c.346C>A (p.Arg116=) | |
| 11 | g.62999064C>A | CA380984363 | SLC22A8 | c.618G>T (p.Met206Ile) c.249G>T (p.Met83Ile) n.436G>T n.339G>T n.458G>T c.345G>T (p.Met115Ile) | |
| 11 | g.62999064C= | CA1978016033 | SLC22A8 | c.618G= (p.Met206=) c.249G= (p.Met83=) n.436G= n.339G= n.458G= c.345G= (p.Met115=) | |
| 11 | g.62999064C>G | CA380984365 | SLC22A8 | c.618G>C (p.Met206Ile) c.249G>C (p.Met83Ile) n.436G>C n.339G>C n.458G>C c.345G>C (p.Met115Ile) | |
| 11 | g.62999064C>T | CA380984367 | SLC22A8 | c.618G>A (p.Met206Ile) c.249G>A (p.Met83Ile) n.436G>A n.339G>A n.458G>A c.345G>A (p.Met115Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999065A>C | CA380984372 | SLC22A8 | c.617T>G (p.Met206Arg) c.248T>G (p.Met83Arg) n.435T>G n.338T>G n.457T>G c.344T>G (p.Met115Arg) | |
| 11 | g.62999065A>G | CA380984373 | SLC22A8 | c.617T>C (p.Met206Thr) c.248T>C (p.Met83Thr) n.435T>C n.338T>C n.457T>C c.344T>C (p.Met115Thr) | |
| 11 | g.62999065A>T | CA380984369 | SLC22A8 | c.617T>A (p.Met206Lys) c.248T>A (p.Met83Lys) n.435T>A n.338T>A n.457T>A c.344T>A (p.Met115Lys) | |
| 11 | g.62999066T>A | CA380984378 | SLC22A8 | c.616A>T (p.Met206Leu) c.247A>T (p.Met83Leu) n.434A>T n.337A>T n.456A>T c.343A>T (p.Met115Leu) | |
| 11 | g.62999066T>C | CA380984376 | SLC22A8 | c.616A>G (p.Met206Val) c.247A>G (p.Met83Val) n.434A>G n.337A>G n.456A>G c.343A>G (p.Met115Val) | |
| 11 | g.62999066T>G | CA380984379 | SLC22A8 | c.616A>C (p.Met206Leu) c.247A>C (p.Met83Leu) n.434A>C n.337A>C n.456A>C c.343A>C (p.Met115Leu) | |
| 11 | g.62999067C>A | CA474857552 | SLC22A8 | c.615G>T (p.Arg205=) c.246G>T (p.Arg82=) n.433G>T n.336G>T n.455G>T c.342G>T (p.Arg114=) | |
| 11 | g.62999067C>G | CA474857557 | SLC22A8 | c.615G>C (p.Arg205=) c.246G>C (p.Arg82=) n.433G>C n.336G>C n.455G>C c.342G>C (p.Arg114=) | |
| 11 | g.62999067C>T | CA474857559 | SLC22A8 | c.615G>A (p.Arg205=) c.246G>A (p.Arg82=) n.433G>A n.336G>A n.455G>A c.342G>A (p.Arg114=) | |
| 11 | g.62999068C>A | CA380984382 | SLC22A8 | c.614G>T (p.Arg205Leu) c.245G>T (p.Arg82Leu) n.432G>T n.335G>T n.454G>T c.341G>T (p.Arg114Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.62999068C= | CA1978016036 | SLC22A8 | c.614G= (p.Arg205=) c.245G= (p.Arg82=) n.432G= n.335G= n.454G= c.341G= (p.Arg114=) | |
| 11 | g.62999068C>G | CA380984386 | SLC22A8 | c.614G>C (p.Arg205Pro) c.245G>C (p.Arg82Pro) n.432G>C n.335G>C n.454G>C c.341G>C (p.Arg114Pro) | |
| 11 | g.62999068C>T | CA6059881 | SLC22A8 | c.614G>A (p.Arg205Gln) c.245G>A (p.Arg82Gln) n.432G>A n.335G>A n.454G>A c.341G>A (p.Arg114Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62999069G>A | CA6059882 | SLC22A8 | c.613C>T (p.Arg205Trp) c.244C>T (p.Arg82Trp) n.431C>T n.334C>T n.453C>T c.340C>T (p.Arg114Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.62999069G>C | CA380984394 | SLC22A8 | c.613C>G (p.Arg205Gly) c.244C>G (p.Arg82Gly) n.431C>G n.334C>G n.453C>G c.340C>G (p.Arg114Gly) | |
| 11 | g.62999069G= | CA1978016043 | SLC22A8 | c.613C= (p.Arg205=) c.244C= (p.Arg82=) n.431C= n.334C= n.453C= c.340C= (p.Arg114=) | |
| 11 | g.62999069G>T | CA474857572 | SLC22A8 | c.613C>A (p.Arg205=) c.244C>A (p.Arg82=) n.431C>A n.334C>A n.453C>A c.340C>A (p.Arg114=) |