| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.62998967G>A | CA6059854 | SLC22A8 | c.715C>T (p.Gln239Ter) c.346C>T (p.Gln116Ter) n.533C>T n.436C>T n.555C>T c.442C>T (p.Gln148Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998967G>C | CA380983910 | SLC22A8 | c.715C>G (p.Gln239Glu) c.346C>G (p.Gln116Glu) n.533C>G n.436C>G n.555C>G c.442C>G (p.Gln148Glu) | |
| 11 | g.62998967G= | CA1978015864 | SLC22A8 | c.715C= (p.Gln239=) c.346C= (p.Gln116=) n.533C= n.436C= n.555C= c.442C= (p.Gln148=) | |
| 11 | g.62998967G>T | CA380983912 | SLC22A8 | c.715C>A (p.Gln239Lys) c.346C>A (p.Gln116Lys) n.533C>A n.436C>A n.555C>A c.442C>A (p.Gln148Lys) | |
| 11 | g.62998968C>A | CA6059855 | SLC22A8 | c.714G>T (p.Leu238=) c.345G>T (p.Leu115=) n.532G>T n.435G>T n.554G>T c.441G>T (p.Leu147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.62998968C= | CA1978015865 | SLC22A8 | c.714G= (p.Leu238=) c.345G= (p.Leu115=) n.532G= n.435G= n.554G= c.441G= (p.Leu147=) | |
| 11 | g.62998968C>G | CA474857058 | SLC22A8 | c.714G>C (p.Leu238=) c.345G>C (p.Leu115=) n.532G>C n.435G>C n.554G>C c.441G>C (p.Leu147=) | |
| 11 | g.62998968C>T | CA223625778 | SLC22A8 | c.714G>A (p.Leu238=) c.345G>A (p.Leu115=) n.532G>A n.435G>A n.554G>A c.441G>A (p.Leu147=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |