Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51765681T>A | CA384886569 | SCN8A | c.2555T>A (p.Phe852Tyr) c.402T>A c.559T>A n.2683T>A c.2588T>A (p.Phe863Tyr) | |
12 | g.51765681T>C | CA384886579 | SCN8A | c.2555T>C (p.Phe852Ser) c.402T>C c.559T>C n.2683T>C c.2588T>C (p.Phe863Ser) | gnomAD v4 |
12 | g.51765681T>G | CA384886573 | SCN8A | c.2555T>G (p.Phe852Cys) c.402T>G c.559T>G n.2683T>G c.2588T>G (p.Phe863Cys) | |
12 | g.51765682C>A | CA384886583 | SCN8A | c.2556C>A (p.Phe852Leu) c.403C>A c.560C>A n.2684C>A c.2589C>A (p.Phe863Leu) | gnomAD v4 |
12 | g.51765682C>G | CA384886595 | SCN8A | c.2556C>G (p.Phe852Leu) c.403C>G c.560C>G n.2684C>G c.2589C>G (p.Phe863Leu) | |
12 | g.51765682C>T | CA480061059 | SCN8A | c.2556C>T (p.Phe852=) c.403C>T c.560C>T n.2684C>T c.2589C>T (p.Phe863=) | gnomAD v3 gnomAD v4 |
12 | g.51765683A>C | CA384886609 | SCN8A | c.2557A>C (p.Lys853Gln) c.404A>C c.561A>C n.2685A>C c.2590A>C (p.Lys864Gln) | |
12 | g.51765683A>G | CA384886614 | SCN8A | c.2557A>G (p.Lys853Glu) c.404A>G c.561A>G n.2685A>G c.2590A>G (p.Lys864Glu) | |
12 | g.51765683A>T | CA384886619 | SCN8A | c.2557A>T (p.Lys853Ter) c.404A>T c.561A>T n.2685A>T c.2590A>T (p.Lys864Ter) | |
12 | g.51765684A= | CA2036183887 | SCN8A | c.2558A= (p.Lys853=) c.405A= c.562A= n.2686A= c.2591A= (p.Lys864=) | |
12 | g.51765684A>C | CA384886625 | SCN8A | c.2558A>C (p.Lys853Thr) c.405A>C c.562A>C n.2686A>C c.2591A>C (p.Lys864Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51765684A>G | CA384886626 | SCN8A | c.2558A>G (p.Lys853Arg) c.405A>G c.562A>G n.2686A>G c.2591A>G (p.Lys864Arg) | ClinVar dbSNP |
12 | g.51765684A>T | CA384886624 | SCN8A | c.2558A>T (p.Lys853Ile) c.405A>T c.562A>T n.2686A>T c.2591A>T (p.Lys864Ile) | |
12 | g.51765685A>C | CA384886629 | SCN8A | c.2559A>C (p.Lys853Asn) c.406A>C c.563A>C n.2687A>C c.2592A>C (p.Lys864Asn) | |
12 | g.51765685A>G | CA480061062 | SCN8A | c.2559A>G (p.Lys853=) c.406A>G c.563A>G n.2687A>G c.2592A>G (p.Lys864=) | |
12 | g.51765685A>T | CA384886627 | SCN8A | c.2559A>T (p.Lys853Asn) c.406A>T c.563A>T n.2687A>T c.2592A>T (p.Lys864Asn) | gnomAD v4 |
12 | g.51765686T>A | CA384886651 | SCN8A | c.2560T>A (p.Leu854Met) c.407T>A c.564T>A n.2688T>A c.2593T>A (p.Leu865Met) | ClinVar dbSNP |
12 | g.51765686T>C | CA480061063 | SCN8A | c.2560T>C (p.Leu854=) c.407T>C c.564T>C n.2688T>C c.2593T>C (p.Leu865=) | |
12 | g.51765686T>G | CA384886633 | SCN8A | c.2560T>G (p.Leu854Val) c.407T>G c.564T>G n.2688T>G c.2593T>G (p.Leu865Val) | |
12 | g.51765686T= | CA2036183889 | SCN8A | c.2560T= (p.Leu854=) c.407T= c.564T= n.2688T= c.2593T= (p.Leu865=) | |
12 | g.51765687T>A | CA384886660 | SCN8A | c.2561T>A (p.Leu854Ter) c.408T>A c.565T>A n.2689T>A c.2594T>A (p.Leu865Ter) | |
12 | g.51765687T>C | CA384886663 | SCN8A | c.2561T>C (p.Leu854Ser) c.408T>C c.565T>C n.2689T>C c.2594T>C (p.Leu865Ser) | |
12 | g.51765687T>G | CA384886668 | SCN8A | c.2561T>G (p.Leu854Trp) c.408T>G c.565T>G n.2689T>G c.2594T>G (p.Leu865Trp) | |
12 | g.51765688G>A | CA480061064 | SCN8A | c.2562G>A (p.Leu854=) c.409G>A c.566G>A n.2690G>A c.2595G>A (p.Leu865=) | |
12 | g.51765688G>C | CA384886674 | SCN8A | c.2562G>C (p.Leu854Phe) c.409G>C c.566G>C n.2690G>C c.2595G>C (p.Leu865Phe) | |
12 | g.51765688G>T | CA384886680 | SCN8A | c.2562G>T (p.Leu854Phe) c.409G>T c.566G>T n.2690G>T c.2595G>T (p.Leu865Phe) | gnomAD v3 gnomAD v4 |
12 | g.51765689G>A | CA384886683 | SCN8A | c.2563G>A (p.Ala855Thr) c.410G>A c.567G>A n.2691G>A c.2596G>A (p.Ala866Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.51765689G>C | CA384886686 | SCN8A | c.2563G>C (p.Ala855Pro) c.410G>C c.567G>C n.2691G>C c.2596G>C (p.Ala866Pro) | |
12 | g.51765689G= | CA2036183894 | SCN8A | c.2563G= (p.Ala855=) c.410G= c.567G= n.2691G= c.2596G= (p.Ala866=) | |
12 | g.51765689G>T | CA384886693 | SCN8A | c.2563G>T (p.Ala855Ser) c.410G>T c.567G>T n.2691G>T c.2596G>T (p.Ala866Ser) | gnomAD v4 |
12 | g.51765690C>A | CA384886698 | SCN8A | c.2564C>A (p.Ala855Asp) c.411C>A c.568C>A n.2692C>A c.2597C>A (p.Ala866Asp) | gnomAD v4 |
12 | g.51765690C>G | CA384886703 | SCN8A | c.2564C>G (p.Ala855Gly) c.411C>G c.568C>G n.2692C>G c.2597C>G (p.Ala866Gly) | ClinVar dbSNP gnomAD v4 |
12 | g.51765690C>T | CA384886715 | SCN8A | c.2564C>T (p.Ala855Val) c.411C>T c.568C>T n.2692C>T c.2597C>T (p.Ala866Val) | gnomAD v4 |
12 | g.51765691C>A | CA480061068 | SCN8A | c.2565C>A (p.Ala855=) c.412C>A c.569C>A n.2693C>A c.2598C>A (p.Ala866=) | gnomAD v4 |
12 | g.51765691C= | CA2036183901 | SCN8A | c.2565C= (p.Ala855=) c.412C= c.569C= n.2693C= c.2598C= (p.Ala866=) | |
12 | g.51765691C>G | CA480061069 | SCN8A | c.2565C>G (p.Ala855=) c.412C>G c.569C>G n.2693C>G c.2598C>G (p.Ala866=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765691C>T | CA480061071 | SCN8A | c.2565C>T (p.Ala855=) c.412C>T c.569C>T n.2693C>T c.2598C>T (p.Ala866=) | gnomAD v4 |
12 | g.51765692A>C | CA384886722 | SCN8A | c.2566A>C (p.Lys856Gln) c.413A>C c.570A>C n.2694A>C c.2599A>C (p.Lys867Gln) | |
12 | g.51765692A>G | CA384886719 | SCN8A | c.2566A>G (p.Lys856Glu) c.413A>G c.570A>G n.2694A>G c.2599A>G (p.Lys867Glu) | |
12 | g.51765692A>T | CA384886720 | SCN8A | c.2566A>T (p.Lys856Ter) c.413A>T c.570A>T n.2694A>T c.2599A>T (p.Lys867Ter) | |
12 | g.51765693A>C | CA384886727 | SCN8A | c.2567A>C (p.Lys856Thr) c.414A>C c.571A>C n.2695A>C c.2600A>C (p.Lys867Thr) | |
12 | g.51765693A>G | CA384886734 | SCN8A | c.2567A>G (p.Lys856Arg) c.414A>G c.571A>G n.2695A>G c.2600A>G (p.Lys867Arg) | |
12 | g.51765693A>T | CA384886738 | SCN8A | c.2567A>T (p.Lys856Ile) c.414A>T c.571A>T n.2695A>T c.2600A>T (p.Lys867Ile) | |
12 | g.51765694A>C | CA384886741 | SCN8A | c.2568A>C (p.Lys856Asn) c.415A>C c.572A>C n.2696A>C c.2601A>C (p.Lys867Asn) | |
12 | g.51765694A>G | CA480061077 | SCN8A | c.2568A>G (p.Lys856=) c.415A>G c.572A>G n.2696A>G c.2601A>G (p.Lys867=) | |
12 | g.51765694A>T | CA384886743 | SCN8A | c.2568A>T (p.Lys856Asn) c.415A>T c.572A>T n.2696A>T c.2601A>T (p.Lys867Asn) | gnomAD v4 |
12 | g.51765695T>A | CA384886747 | SCN8A | c.2569T>A (p.Ser857Thr) c.416T>A c.573T>A n.2697T>A c.2602T>A (p.Ser868Thr) | |
12 | g.51765695T>C | CA384886749 | SCN8A | c.2569T>C (p.Ser857Pro) c.416T>C c.573T>C n.2697T>C c.2602T>C (p.Ser868Pro) | |
12 | g.51765695T>G | CA384886750 | SCN8A | c.2569T>G (p.Ser857Ala) c.416T>G c.573T>G n.2697T>G c.2602T>G (p.Ser868Ala) | |
12 | g.51765696C>A | CA384886753 | SCN8A | c.2570C>A (p.Ser857Tyr) c.417C>A c.574C>A n.2698C>A c.2603C>A (p.Ser868Tyr) | gnomAD v4 |