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 |
|---|---|---|---|---|---|
| 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 |
| 12 | g.51765696C>G | CA384886755 | SCN8A | c.2570C>G (p.Ser857Cys) c.417C>G c.574C>G n.2698C>G c.2603C>G (p.Ser868Cys) | |
| 12 | g.51765696C>T | CA384886757 | SCN8A | c.2570C>T (p.Ser857Phe) c.417C>T c.574C>T n.2698C>T c.2603C>T (p.Ser868Phe) | gnomAD v4 |
| 12 | g.51765697C>A | CA480061082 | SCN8A | c.2571C>A (p.Ser857=) c.418C>A c.575C>A n.2699C>A c.2604C>A (p.Ser868=) | gnomAD v4 |
| 12 | g.51765697C>G | CA480061083 | SCN8A | c.2571C>G (p.Ser857=) c.418C>G c.575C>G n.2699C>G c.2604C>G (p.Ser868=) | |
| 12 | g.51765697C>T | CA480061084 | SCN8A | c.2571C>T (p.Ser857=) c.418C>T c.575C>T n.2699C>T c.2604C>T (p.Ser868=) | gnomAD v4 |
| 12 | g.51765698T>A | CA384886766 | SCN8A | c.2572T>A (p.Trp858Arg) c.419T>A c.576T>A n.2700T>A c.2605T>A (p.Trp869Arg) | |
| 12 | g.51765698T>C | CA384886764 | SCN8A | c.2572T>C (p.Trp858Arg) c.419T>C c.576T>C n.2700T>C c.2605T>C (p.Trp869Arg) | |
| 12 | g.51765698T>G | CA384886763 | SCN8A | c.2572T>G (p.Trp858Gly) c.419T>G c.576T>G n.2700T>G c.2605T>G (p.Trp869Gly) | ClinVar |
| 12 | g.51765699G>A | CA384886767 | SCN8A | c.2573G>A (p.Trp858Ter) c.420G>A c.577G>A n.2701G>A c.2606G>A (p.Trp869Ter) | |
| 12 | g.51765699G>C | CA384886768 | SCN8A | c.2573G>C (p.Trp858Ser) c.420G>C c.577G>C n.2701G>C c.2606G>C (p.Trp869Ser) | |
| 12 | g.51765699G>T | CA384886771 | SCN8A | c.2573G>T (p.Trp858Leu) c.420G>T c.577G>T n.2701G>T c.2606G>T (p.Trp869Leu) | gnomAD v4 |
| 12 | g.51765700G>A | CA384886775 | SCN8A | c.2574G>A (p.Trp858Ter) c.421G>A c.578G>A n.2702G>A c.2607G>A (p.Trp869Ter) | dbSNP |
| 12 | g.51765700G>C | CA384886781 | SCN8A | c.2574G>C (p.Trp858Cys) c.421G>C c.578G>C n.2702G>C c.2607G>C (p.Trp869Cys) | |
| 12 | g.51765700G= | CA2036183909 | SCN8A | c.2574G= (p.Trp858=) c.421G= c.578G= n.2702G= c.2607G= (p.Trp869=) | |
| 12 | g.51765700G>T | CA384886784 | SCN8A | c.2574G>T (p.Trp858Cys) c.421G>T c.578G>T n.2702G>T c.2607G>T (p.Trp869Cys) | gnomAD v4 |
| 12 | g.51765701C>A | CA384886802 | SCN8A | c.2575C>A (p.Pro859Thr) c.422C>A c.579C>A n.2703C>A c.2608C>A (p.Pro870Thr) | gnomAD v4 |
| 12 | g.51765701C>G | CA384886810 | SCN8A | c.2575C>G (p.Pro859Ala) c.422C>G c.579C>G n.2703C>G c.2608C>G (p.Pro870Ala) | |
| 12 | g.51765701C>T | CA384886813 | SCN8A | c.2575C>T (p.Pro859Ser) c.422C>T c.579C>T n.2703C>T c.2608C>T (p.Pro870Ser) | gnomAD v4 |
| 12 | g.51765702C>A | CA384886817 | SCN8A | c.2576C>A (p.Pro859His) c.423C>A c.580C>A n.2704C>A c.2609C>A (p.Pro870His) | |
| 12 | g.51765702C>G | CA384886823 | SCN8A | c.2576C>G (p.Pro859Arg) c.423C>G c.580C>G n.2704C>G c.2609C>G (p.Pro870Arg) | |
| 12 | g.51765702C>T | CA384886827 | SCN8A | c.2576C>T (p.Pro859Leu) c.423C>T c.580C>T n.2704C>T c.2609C>T (p.Pro870Leu) | gnomAD v4 |
| 12 | g.51765703C>A | CA480061096 | SCN8A | c.2577C>A (p.Pro859=) c.424C>A c.581C>A n.2705C>A c.2610C>A (p.Pro870=) | |
| 12 | g.51765703C>G | CA480061097 | SCN8A | c.2577C>G (p.Pro859=) c.424C>G c.581C>G n.2705C>G c.2610C>G (p.Pro870=) | |
| 12 | g.51765703C>T | CA480061099 | SCN8A | c.2577C>T (p.Pro859=) c.424C>T c.581C>T n.2705C>T c.2610C>T (p.Pro870=) | gnomAD v4 |
| 12 | g.51765704A>C | CA384886832 | SCN8A | c.2578A>C (p.Thr860Pro) c.425A>C c.582A>C n.2706A>C c.2611A>C (p.Thr871Pro) | gnomAD v4 |
| 12 | g.51765704A>G | CA384886831 | SCN8A | c.2578A>G (p.Thr860Ala) c.425A>G c.582A>G n.2706A>G c.2611A>G (p.Thr871Ala) | |
| 12 | g.51765704A>T | CA384886830 | SCN8A | c.2578A>T (p.Thr860Ser) c.425A>T c.582A>T n.2706A>T c.2611A>T (p.Thr871Ser) | |
| 12 | g.51765705C>A | CA384886835 | SCN8A | c.2579C>A (p.Thr860Asn) c.426C>A c.583C>A n.2707C>A c.2612C>A (p.Thr871Asn) | |
| 12 | g.51765705C>G | CA384886838 | SCN8A | c.2579C>G (p.Thr860Ser) c.426C>G c.583C>G n.2707C>G c.2612C>G (p.Thr871Ser) | |
| 12 | g.51765705C>T | CA384886839 | SCN8A | c.2579C>T (p.Thr860Ile) c.426C>T c.583C>T n.2707C>T c.2612C>T (p.Thr871Ile) | |
| 12 | g.51765706C>A | CA6571498 | SCN8A | c.2580C>A (p.Thr860=) c.427C>A c.584C>A n.2708C>A c.2613C>A (p.Thr871=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51765706C= | CA2036183920 | SCN8A | c.2580C= (p.Thr860=) c.427C= c.584C= n.2708C= c.2613C= (p.Thr871=) | |
| 12 | g.51765706C>G | CA480061104 | SCN8A | c.2580C>G (p.Thr860=) c.427C>G c.584C>G n.2708C>G c.2613C>G (p.Thr871=) | |
| 12 | g.51765706C>T | CA480061102 | SCN8A | c.2580C>T (p.Thr860=) c.427C>T c.584C>T n.2708C>T c.2613C>T (p.Thr871=) | gnomAD v4 |
| 12 | g.51765707C>A | CA384886842 | SCN8A | c.2581C>A (p.Leu861Met) c.428C>A c.585C>A n.2709C>A c.2614C>A (p.Leu872Met) | |
| 12 | g.51765707C>G | CA384886845 | SCN8A | c.2581C>G (p.Leu861Val) c.428C>G c.585C>G n.2709C>G c.2614C>G (p.Leu872Val) | |
| 12 | g.51765707C>T | CA480061105 | SCN8A | c.2581C>T (p.Leu861=) c.428C>T c.585C>T n.2709C>T c.2614C>T (p.Leu872=) | |
| 12 | g.51765708T>A | CA384886849 | SCN8A | c.2582T>A (p.Leu861Gln) c.429T>A c.586T>A n.2710T>A c.2615T>A (p.Leu872Gln) | |
| 12 | g.51765708T>C | CA384886854 | SCN8A | c.2582T>C (p.Leu861Pro) c.429T>C c.586T>C n.2710T>C c.2615T>C (p.Leu872Pro) | |
| 12 | g.51765708T>G | CA384886859 | SCN8A | c.2582T>G (p.Leu861Arg) c.429T>G c.586T>G n.2710T>G c.2615T>G (p.Leu872Arg) | |
| 12 | g.51765709G>A | CA6571499 | SCN8A | c.2583G>A (p.Leu861=) c.430G>A c.587G>A n.2711G>A c.2616G>A (p.Leu872=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51765709G>C | CA480061108 | SCN8A | c.2583G>C (p.Leu861=) c.430G>C c.587G>C n.2711G>C c.2616G>C (p.Leu872=) | |
| 12 | g.51765709G= | CA2036183926 | SCN8A | c.2583G= (p.Leu861=) c.430G= c.587G= n.2711G= c.2616G= (p.Leu872=) | |
| 12 | g.51765709G>T | CA480061109 | SCN8A | c.2583G>T (p.Leu861=) c.430G>T c.587G>T n.2711G>T c.2616G>T (p.Leu872=) | |
| 12 | g.51765710A>C | CA384886866 | SCN8A | c.2584A>C (p.Asn862His) c.431A>C c.588A>C n.2712A>C c.2617A>C (p.Asn873His) | |
| 12 | g.51765710A>G | CA384886878 | SCN8A | c.2584A>G (p.Asn862Asp) c.431A>G c.588A>G n.2712A>G c.2617A>G (p.Asn873Asp) | |
| 12 | g.51765710A>T | CA384886881 | SCN8A | c.2584A>T (p.Asn862Tyr) c.431A>T c.588A>T n.2712A>T c.2617A>T (p.Asn873Tyr) | |
| 12 | g.51765711A>C | CA384886886 | SCN8A | c.2585A>C (p.Asn862Thr) c.432A>C c.589A>C n.2713A>C c.2618A>C (p.Asn873Thr) | |
| 12 | g.51765711A>G | CA384886888 | SCN8A | c.2585A>G (p.Asn862Ser) c.432A>G c.589A>G n.2713A>G c.2618A>G (p.Asn873Ser) | ClinVar dbSNP |
| 12 | g.51765711A>T | CA384886884 | SCN8A | c.2585A>T (p.Asn862Ile) c.432A>T c.589A>T n.2713A>T c.2618A>T (p.Asn873Ile) | |
| 12 | g.51765712C>A | CA384886926 | SCN8A | c.2586C>A (p.Asn862Lys) c.433C>A c.590C>A n.2714C>A c.2619C>A (p.Asn873Lys) | |
| 12 | g.51765712C= | CA2036183936 | SCN8A | c.2586C= (p.Asn862=) c.433C= c.590C= n.2714C= c.2619C= (p.Asn873=) | |
| 12 | g.51765712C>G | CA384886895 | SCN8A | c.2586C>G (p.Asn862Lys) c.433C>G c.590C>G n.2714C>G c.2619C>G (p.Asn873Lys) | |
| 12 | g.51765712C>T | CA6571500 | SCN8A | c.2586C>T (p.Asn862=) c.433C>T c.590C>T n.2714C>T c.2619C>T (p.Asn873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51765713A>C | CA384886929 | SCN8A | c.2587A>C (p.Met863Leu) c.434A>C c.591A>C n.2715A>C c.2620A>C (p.Met874Leu) | |
| 12 | g.51765713A>G | CA384886931 | SCN8A | c.2587A>G (p.Met863Val) c.434A>G c.591A>G n.2715A>G c.2620A>G (p.Met874Val) | gnomAD v4 |
| 12 | g.51765713A>T | CA384886935 | SCN8A | c.2587A>T (p.Met863Leu) c.434A>T c.591A>T n.2715A>T c.2620A>T (p.Met874Leu) | |
| 12 | g.51765714T>A | CA384886940 | SCN8A | c.2588T>A (p.Met863Lys) c.435T>A c.592T>A n.2716T>A c.2621T>A (p.Met874Lys) | |
| 12 | g.51765714T>C | CA384886943 | SCN8A | c.2588T>C (p.Met863Thr) c.435T>C c.592T>C n.2716T>C c.2621T>C (p.Met874Thr) | |
| 12 | g.51765714T>G | CA384886946 | SCN8A | c.2588T>G (p.Met863Arg) c.435T>G c.592T>G n.2716T>G c.2621T>G (p.Met874Arg) | |
| 12 | g.51765715G>A | CA384886950 | SCN8A | c.2589G>A (p.Met863Ile) c.436G>A c.593G>A n.2717G>A c.2622G>A (p.Met874Ile) | |
| 12 | g.51765715G>C | CA384886954 | SCN8A | c.2589G>C (p.Met863Ile) c.436G>C c.593G>C n.2717G>C c.2622G>C (p.Met874Ile) | |
| 12 | g.51765715G>T | CA384886956 | SCN8A | c.2589G>T (p.Met863Ile) c.436G>T c.593G>T n.2717G>T c.2622G>T (p.Met874Ile) | |
| 12 | g.51765716C>A | CA384886957 | SCN8A | c.2590C>A (p.Leu864Ile) c.437C>A c.594C>A n.2718C>A c.2623C>A (p.Leu875Ile) | |
| 12 | g.51765716C>G | CA384886958 | SCN8A | c.2590C>G (p.Leu864Val) c.437C>G c.594C>G n.2718C>G c.2623C>G (p.Leu875Val) | |
| 12 | g.51765716C>T | CA480061115 | SCN8A | c.2590C>T (p.Leu864=) c.437C>T c.594C>T n.2718C>T c.2623C>T (p.Leu875=) | gnomAD v4 |
| 12 | g.51765717T>A | CA384886965 | SCN8A | c.2591T>A (p.Leu864Gln) c.438T>A c.595T>A n.2719T>A c.2624T>A (p.Leu875Gln) | |
| 12 | g.51765717T>C | CA384886962 | SCN8A | c.2591T>C (p.Leu864Pro) c.438T>C c.595T>C n.2719T>C c.2624T>C (p.Leu875Pro) | |
| 12 | g.51765717T>G | CA384886964 | SCN8A | c.2591T>G (p.Leu864Arg) c.438T>G c.595T>G n.2719T>G c.2624T>G (p.Leu875Arg) | |
| 12 | g.51765718A= | CA2036183945 | SCN8A | c.2592A= (p.Leu864=) c.439A= c.596A= n.2720A= c.2625A= (p.Leu875=) | |
| 12 | g.51765718A>C | CA480061119 | SCN8A | c.2592A>C (p.Leu864=) c.439A>C c.596A>C n.2720A>C c.2625A>C (p.Leu875=) | ClinVar dbSNP |
| 12 | g.51765718A>G | CA480061120 | SCN8A | c.2592A>G (p.Leu864=) c.439A>G c.596A>G n.2720A>G c.2625A>G (p.Leu875=) | gnomAD v4 |
| 12 | g.51765718A>T | CA480061121 | SCN8A | c.2592A>T (p.Leu864=) c.439A>T c.596A>T n.2720A>T c.2625A>T (p.Leu875=) | |
| 12 | g.51765719A>C | CA384886971 | SCN8A | c.2593A>C (p.Ile865Leu) c.440A>C c.597A>C n.2721A>C c.2626A>C (p.Ile876Leu) | |
| 12 | g.51765719A>G | CA384886974 | SCN8A | c.2593A>G (p.Ile865Val) c.440A>G c.597A>G n.2721A>G c.2626A>G (p.Ile876Val) | |
| 12 | g.51765719A>T | CA384886977 | SCN8A | c.2593A>T (p.Ile865Phe) c.440A>T c.597A>T n.2721A>T c.2626A>T (p.Ile876Phe) | |
| 12 | g.51765720T>A | CA384886982 | SCN8A | c.2594T>A (p.Ile865Asn) c.441T>A c.598T>A n.2722T>A c.2627T>A (p.Ile876Asn) | |
| 12 | g.51765720T>C | CA384886986 | SCN8A | c.2594T>C (p.Ile865Thr) c.441T>C c.598T>C n.2722T>C c.2627T>C (p.Ile876Thr) | |
| 12 | g.51765720T>G | CA384886992 | SCN8A | c.2594T>G (p.Ile865Ser) c.441T>G c.598T>G n.2722T>G c.2627T>G (p.Ile876Ser) | |
| 12 | g.51765721C>A | CA480061125 | SCN8A | c.2595C>A (p.Ile865=) c.442C>A c.599C>A n.2723C>A c.2628C>A (p.Ile876=) | |
| 12 | g.51765721C>G | CA384886995 | SCN8A | c.2595C>G (p.Ile865Met) c.442C>G c.599C>G n.2723C>G c.2628C>G (p.Ile876Met) | |
| 12 | g.51765721C>T | CA480061124 | SCN8A | c.2595C>T (p.Ile865=) c.442C>T c.599C>T n.2723C>T c.2628C>T (p.Ile876=) | gnomAD v4 |
| 12 | g.51765722A= | CA2036183948 | SCN8A | c.2596A= (p.Lys866=) c.443A= c.600A= n.2724A= c.2629A= (p.Lys877=) | |
| 12 | g.51765722A>C | CA384887000 | SCN8A | c.2596A>C (p.Lys866Gln) c.443A>C c.600A>C n.2724A>C c.2629A>C (p.Lys877Gln) | |
| 12 | g.51765722A>G | CA384887005 | SCN8A | c.2596A>G (p.Lys866Glu) c.443A>G c.600A>G n.2724A>G c.2629A>G (p.Lys877Glu) | |
| 12 | g.51765722A>T | CA384887007 | SCN8A | c.2596A>T (p.Lys866Ter) c.443A>T c.600A>T n.2724A>T c.2629A>T (p.Lys877Ter) | dbSNP |
| 12 | g.51765723A>C | CA384887010 | SCN8A | c.2597A>C (p.Lys866Thr) c.444A>C c.601A>C n.2725A>C c.2630A>C (p.Lys877Thr) | |
| 12 | g.51765723A>G | CA384887011 | SCN8A | c.2597A>G (p.Lys866Arg) c.444A>G c.601A>G n.2725A>G c.2630A>G (p.Lys877Arg) | |
| 12 | g.51765723A>T | CA384887012 | SCN8A | c.2597A>T (p.Lys866Met) c.444A>T c.601A>T n.2725A>T c.2630A>T (p.Lys877Met) | |
| 12 | g.51765724G>A | CA480061130 | SCN8A | c.2598G>A (p.Lys866=) c.445G>A c.602G>A n.2726G>A c.2631G>A (p.Lys877=) | |
| 12 | g.51765724G>C | CA384887018 | SCN8A | c.2598G>C (p.Lys866Asn) c.445G>C c.602G>C n.2726G>C c.2631G>C (p.Lys877Asn) | |
| 12 | g.51765724G>T | CA384887014 | SCN8A | c.2598G>T (p.Lys866Asn) c.445G>T c.602G>T n.2726G>T c.2631G>T (p.Lys877Asn) | |
| 12 | g.51765725A>C | CA384887022 | SCN8A | c.2599A>C (p.Ile867Leu) c.446A>C c.603A>C n.2727A>C c.2632A>C (p.Ile878Leu) | |
| 12 | g.51765725A>G | CA384887029 | SCN8A | c.2599A>G (p.Ile867Val) c.446A>G c.603A>G n.2727A>G c.2632A>G (p.Ile878Val) | |
| 12 | g.51765725A>T | CA384887025 | SCN8A | c.2599A>T (p.Ile867Phe) c.446A>T c.603A>T n.2727A>T c.2632A>T (p.Ile878Phe) | gnomAD v4 |
| 12 | g.51765726T>A | CA384887032 | SCN8A | c.2600T>A (p.Ile867Asn) c.447T>A c.604T>A n.2728T>A c.2633T>A (p.Ile878Asn) | |
| 12 | g.51765726T>C | CA384887035 | SCN8A | c.2600T>C (p.Ile867Thr) c.447T>C c.604T>C n.2728T>C c.2633T>C (p.Ile878Thr) | |
| 12 | g.51765726T>G | CA384887037 | SCN8A | c.2600T>G (p.Ile867Ser) c.447T>G c.604T>G n.2728T>G c.2633T>G (p.Ile878Ser) | |
| 12 | g.51765727T>A | CA480061133 | SCN8A | c.2601T>A (p.Ile867=) c.448T>A c.605T>A n.2729T>A c.2634T>A (p.Ile878=) | |
| 12 | g.51765727T>C | CA480061134 | SCN8A | c.2601T>C (p.Ile867=) c.448T>C c.605T>C n.2729T>C c.2634T>C (p.Ile878=) | dbSNP |
| 12 | g.51765727T>G | CA384887041 | SCN8A | c.2601T>G (p.Ile867Met) c.448T>G c.605T>G n.2729T>G c.2634T>G (p.Ile878Met) | |
| 12 | g.51765727T= | CA2036183957 | SCN8A | c.2601T= (p.Ile867=) c.448T= c.605T= n.2729T= c.2634T= (p.Ile878=) | |
| 12 | g.51765728A>C | CA384887042 | SCN8A | c.2602A>C (p.Ile868Leu) c.449A>C c.606A>C n.2730A>C c.2635A>C (p.Ile879Leu) | |
| 12 | g.51765728A>G | CA384887043 | SCN8A | c.2602A>G (p.Ile868Val) c.449A>G c.606A>G n.2730A>G c.2635A>G (p.Ile879Val) | |
| 12 | g.51765728A>T | CA384887046 | SCN8A | c.2602A>T (p.Ile868Phe) c.449A>T c.606A>T n.2730A>T c.2635A>T (p.Ile879Phe) | |
| 12 | g.51765729T>A | CA384887049 | SCN8A | c.2603T>A (p.Ile868Asn) c.450T>A c.607T>A n.2731T>A c.2636T>A (p.Ile879Asn) | |
| 12 | g.51765729T>C | CA384887050 | SCN8A | c.2603T>C (p.Ile868Thr) c.450T>C c.607T>C n.2731T>C c.2636T>C (p.Ile879Thr) | ClinVar dbSNP |
| 12 | g.51765729T>G | CA384887051 | SCN8A | c.2603T>G (p.Ile868Ser) c.450T>G c.607T>G n.2731T>G c.2636T>G (p.Ile879Ser) | |
| 12 | g.51765729T= | CA2036183970 | SCN8A | c.2603T= (p.Ile868=) c.450T= c.607T= n.2731T= c.2636T= (p.Ile879=) | |
| 12 | g.51765730T>A | CA480061139 | SCN8A | c.2604T>A (p.Ile868=) c.451T>A c.608T>A n.2732T>A c.2637T>A (p.Ile879=) | |
| 12 | g.51765730T>C | CA480061140 | SCN8A | c.2604T>C (p.Ile868=) c.451T>C c.608T>C n.2732T>C c.2637T>C (p.Ile879=) | |
| 12 | g.51765730T>G | CA384887057 | SCN8A | c.2604T>G (p.Ile868Met) c.451T>G c.608T>G n.2732T>G c.2637T>G (p.Ile879Met) | |
| 12 | g.51765731G>A | CA384887072 | SCN8A | c.2605G>A (p.Gly869Arg) c.452G>A c.609G>A n.2733G>A c.2638G>A (p.Gly880Arg) | |
| 12 | g.51765731G>C | CA384887069 | SCN8A | c.2605G>C (p.Gly869Arg) c.452G>C c.609G>C n.2733G>C c.2638G>C (p.Gly880Arg) | |
| 12 | g.51765731G= | CA2036183980 | SCN8A | c.2605G= (p.Gly869=) c.452G= c.609G= n.2733G= c.2638G= (p.Gly880=) | |
| 12 | g.51765731G>T | CA384887064 | SCN8A | c.2605G>T (p.Gly869Ter) c.452G>T c.609G>T n.2733G>T c.2638G>T (p.Gly880Ter) | dbSNP |
| 12 | g.51765732G>A | CA384887079 | SCN8A | c.2606G>A (p.Gly869Glu) c.453G>A c.610G>A n.2734G>A c.2639G>A (p.Gly880Glu) | |
| 12 | g.51765732G>C | CA384887081 | SCN8A | c.2606G>C (p.Gly869Ala) c.453G>C c.610G>C n.2734G>C c.2639G>C (p.Gly880Ala) | |
| 12 | g.51765732G>T | CA384887085 | SCN8A | c.2606G>T (p.Gly869Val) c.453G>T c.610G>T n.2734G>T c.2639G>T (p.Gly880Val) | |
| 12 | g.51765733A>C | CA480061142 | SCN8A | c.2607A>C (p.Gly869=) c.454A>C c.611A>C n.2735A>C c.2640A>C (p.Gly880=) | |
| 12 | g.51765733A>G | CA480061143 | SCN8A | c.2607A>G (p.Gly869=) c.454A>G c.611A>G n.2735A>G c.2640A>G (p.Gly880=) | |
| 12 | g.51765733A>T | CA480061144 | SCN8A | c.2607A>T (p.Gly869=) c.454A>T c.611A>T n.2735A>T c.2640A>T (p.Gly880=) | |
| 12 | g.51765734A= | CA2036183992 | SCN8A | c.2608A= (p.Asn870=) c.455A= c.612A= n.2736A= c.2641A= (p.Asn881=) | |
| 12 | g.51765734A>C | CA384887104 | SCN8A | c.2608A>C (p.Asn870His) c.455A>C c.612A>C n.2736A>C c.2641A>C (p.Asn881His) | ClinVar dbSNP |
| 12 | g.51765734A>G | CA384887106 | SCN8A | c.2608A>G (p.Asn870Asp) c.455A>G c.612A>G n.2736A>G c.2641A>G (p.Asn881Asp) | |
| 12 | g.51765734A>T | CA384887107 | SCN8A | c.2608A>T (p.Asn870Tyr) c.455A>T c.612A>T n.2736A>T c.2641A>T (p.Asn881Tyr) | |
| 12 | g.51765735A>C | CA384887110 | SCN8A | c.2609A>C (p.Asn870Thr) c.456A>C c.613A>C n.2737A>C c.2642A>C (p.Asn881Thr) | |
| 12 | g.51765735A>G | CA384887111 | SCN8A | c.2609A>G (p.Asn870Ser) c.456A>G c.613A>G n.2737A>G c.2642A>G (p.Asn881Ser) | ClinVar dbSNP |
| 12 | g.51765735A>T | CA384887112 | SCN8A | c.2609A>T (p.Asn870Ile) c.456A>T c.613A>T n.2737A>T c.2642A>T (p.Asn881Ile) | |
| 12 | g.51765736T>A | CA384887115 | SCN8A | c.2610T>A (p.Asn870Lys) c.457T>A c.614T>A n.2738T>A c.2643T>A (p.Asn881Lys) | |
| 12 | g.51765736T>C | CA480061147 | SCN8A | c.2610T>C (p.Asn870=) c.457T>C c.614T>C n.2738T>C c.2643T>C (p.Asn881=) | |
| 12 | g.51765736T>G | CA384887117 | SCN8A | c.2610T>G (p.Asn870Lys) c.457T>G c.614T>G n.2738T>G c.2643T>G (p.Asn881Lys) | |
| 12 | g.51765737T>A | CA384887124 | SCN8A | c.2611T>A (p.Ser871Thr) c.458T>A c.615T>A n.2739T>A c.2644T>A (p.Ser882Thr) | |
| 12 | g.51765737T>C | CA384887128 | SCN8A | c.2611T>C (p.Ser871Pro) c.458T>C c.615T>C n.2739T>C c.2644T>C (p.Ser882Pro) | |
| 12 | g.51765737T>G | CA384887136 | SCN8A | c.2611T>G (p.Ser871Ala) c.458T>G c.615T>G n.2739T>G c.2644T>G (p.Ser882Ala) | |
| 12 | g.51765738C>A | CA384887144 | SCN8A | c.2612C>A (p.Ser871Ter) c.459C>A c.616C>A n.2740C>A c.2645C>A (p.Ser882Ter) | |
| 12 | g.51765738C>G | CA384887160 | SCN8A | c.2612C>G (p.Ser871Ter) c.459C>G c.616C>G n.2740C>G c.2645C>G (p.Ser882Ter) | gnomAD v4 |
| 12 | g.51765738C>T | CA384887142 | SCN8A | c.2612C>T (p.Ser871Leu) c.459C>T c.616C>T n.2740C>T c.2645C>T (p.Ser882Leu) | |
| 12 | g.51765739A>C | CA480061151 | SCN8A | c.2613A>C (p.Ser871=) c.460A>C c.617A>C n.2741A>C c.2646A>C (p.Ser882=) | |
| 12 | g.51765739A>G | CA480061152 | SCN8A | c.2613A>G (p.Ser871=) c.460A>G c.617A>G n.2741A>G c.2646A>G (p.Ser882=) | |
| 12 | g.51765739A>T | CA480061153 | SCN8A | c.2613A>T (p.Ser871=) c.460A>T c.617A>T n.2741A>T c.2646A>T (p.Ser882=) | |
| 12 | g.51765740G>A | CA384887163 | SCN8A | c.2614G>A (p.Val872Met) c.461G>A c.618G>A n.2742G>A c.2647G>A (p.Val883Met) | |
| 12 | g.51765740G>C | CA384887161 | SCN8A | c.2614G>C (p.Val872Leu) c.461G>C c.618G>C n.2742G>C c.2647G>C (p.Val883Leu) | |
| 12 | g.51765740G= | CA2036184006 | SCN8A | c.2614G= (p.Val872=) c.461G= c.618G= n.2742G= c.2647G= (p.Val883=) | |
| 12 | g.51765740G>T | CA384887167 | SCN8A | c.2614G>T (p.Val872Leu) c.461G>T c.618G>T n.2742G>T c.2647G>T (p.Val883Leu) | |
| 12 | g.51765740_51765741insATTAAATATA | CA605238522 | SCN8A | c.2614_2615insATTAAATATA (p.Val872AspfsTer2) c.461_462insATTAAATATA c.618_619insATTAAATATA n.2742_2743insATTAAATATA c.2647_2648insATTAAATATA (p.Val883AspfsTer2) | dbSNP gnomAD v2 |
| 12 | g.51765741T>A | CA384887172 | SCN8A | c.2615T>A (p.Val872Glu) c.462T>A c.619T>A n.2743T>A c.2648T>A (p.Val883Glu) | |
| 12 | g.51765741T>C | CA384887182 | SCN8A | c.2615T>C (p.Val872Ala) c.462T>C c.619T>C n.2743T>C c.2648T>C (p.Val883Ala) | |
| 12 | g.51765741T>G | CA384887177 | SCN8A | c.2615T>G (p.Val872Gly) c.462T>G c.619T>G n.2743T>G c.2648T>G (p.Val883Gly) | |
| 12 | g.51765742G>A | CA480061159 | SCN8A | c.2616G>A (p.Val872=) c.463G>A c.620G>A n.2744G>A c.2649G>A (p.Val883=) | |
| 12 | g.51765742G>C | CA480061157 | SCN8A | c.2616G>C (p.Val872=) c.463G>C c.620G>C n.2744G>C c.2649G>C (p.Val883=) | |
| 12 | g.51765742G= | CA2036184013 | SCN8A | c.2616G= (p.Val872=) c.463G= c.620G= n.2744G= c.2649G= (p.Val883=) | |
| 12 | g.51765742G>T | CA6571501 | SCN8A | c.2616G>T (p.Val872=) c.463G>T c.620G>T n.2744G>T c.2649G>T (p.Val883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51765743G>A | CA384887190 | SCN8A | c.2617G>A (p.Gly873Ser) c.464G>A c.621G>A n.2745G>A c.2650G>A (p.Gly884Ser) | ClinVar dbSNP |
| 12 | g.51765743G>C | CA384887192 | SCN8A | c.2617G>C (p.Gly873Arg) c.464G>C c.621G>C n.2745G>C c.2650G>C (p.Gly884Arg) | ClinVar |
| 12 | g.51765743G= | CA2036184024 | SCN8A | c.2617G= (p.Gly873=) c.464G= c.621G= n.2745G= c.2650G= (p.Gly884=) | |
| 12 | g.51765743G>T | CA384887193 | SCN8A | c.2617G>T (p.Gly873Cys) c.464G>T c.621G>T n.2745G>T c.2650G>T (p.Gly884Cys) | ClinVar dbSNP |
| 12 | g.51765744_51765746dup | CA2695216908 | SCN8A | c.2618_2620dup (p.Gly873_Ala874insGly) c.465_467dup c.622_624dup n.2746_2748dup c.2651_2653dup (p.Gly884_Ala885insGly) | |
| 12 | g.51765744G>A | CA384887197 | SCN8A | c.2618G>A (p.Gly873Asp) c.465G>A c.622G>A n.2746G>A c.2651G>A (p.Gly884Asp) | |
| 12 | g.51765744G>C | CA384887215 | SCN8A | c.2618G>C (p.Gly873Ala) c.465G>C c.622G>C n.2746G>C c.2651G>C (p.Gly884Ala) | |
| 12 | g.51765744G>T | CA384887216 | SCN8A | c.2618G>T (p.Gly873Val) c.465G>T c.622G>T n.2746G>T c.2651G>T (p.Gly884Val) | gnomAD v4 |
| 12 | g.51765745T>A | CA480061273 | SCN8A | c.2619T>A (p.Gly873=) c.466T>A c.623T>A n.2747T>A c.2652T>A (p.Gly884=) | |
| 12 | g.51765745T>C | CA480061274 | SCN8A | c.2619T>C (p.Gly873=) c.466T>C c.623T>C n.2747T>C c.2652T>C (p.Gly884=) | |
| 12 | g.51765745T>G | CA480061275 | SCN8A | c.2619T>G (p.Gly873=) c.466T>G c.623T>G n.2747T>G c.2652T>G (p.Gly884=) | gnomAD v4 |
| 12 | g.51765746G>A | CA384887219 | SCN8A | c.2620G>A (p.Ala874Thr) c.467G>A c.624G>A n.2748G>A c.2653G>A (p.Ala885Thr) | ClinVar dbSNP |
| 12 | g.51765746G>C | CA384887221 | SCN8A | c.2620G>C (p.Ala874Pro) c.467G>C c.624G>C n.2748G>C c.2653G>C (p.Ala885Pro) | |
| 12 | g.51765746G= | CA2036184032 | SCN8A | c.2620G= (p.Ala874=) c.467G= c.624G= n.2748G= c.2653G= (p.Ala885=) | |
| 12 | g.51765746G>T | CA16607341 | SCN8A | c.2620G>T (p.Ala874Ser) c.467G>T c.624G>T n.2748G>T c.2653G>T (p.Ala885Ser) | ClinVar dbSNP |
| 12 | g.51765747C>A | CA384887231 | SCN8A | c.2621C>A (p.Ala874Asp) c.468C>A c.625C>A n.2749C>A c.2654C>A (p.Ala885Asp) | |
| 12 | g.51765747C>G | CA384887234 | SCN8A | c.2621C>G (p.Ala874Gly) c.468C>G c.625C>G n.2749C>G c.2654C>G (p.Ala885Gly) | |
| 12 | g.51765747C>T | CA384887250 | SCN8A | c.2621C>T (p.Ala874Val) c.468C>T c.625C>T n.2749C>T c.2654C>T (p.Ala885Val) | ClinVar |
| 12 | g.51765748C>A | CA480061276 | SCN8A | c.2622C>A (p.Ala874=) c.469C>A c.626C>A n.2750C>A c.2655C>A (p.Ala885=) | |
| 12 | g.51765748C>G | CA480061277 | SCN8A | c.2622C>G (p.Ala874=) c.469C>G c.626C>G n.2750C>G c.2655C>G (p.Ala885=) | |
| 12 | g.51765748C>T | CA480061278 | SCN8A | c.2622C>T (p.Ala874=) c.469C>T c.626C>T n.2750C>T c.2655C>T (p.Ala885=) | |
| 12 | g.51765749C>A | CA384887252 | SCN8A | c.2623C>A (p.Leu875Met) c.470C>A c.627C>A n.2751C>A c.2656C>A (p.Leu886Met) | |
| 12 | g.51765749C>G | CA384887256 | SCN8A | c.2623C>G (p.Leu875Val) c.470C>G c.627C>G n.2751C>G c.2656C>G (p.Leu886Val) | |
| 12 | g.51765749C>T | CA480061279 | SCN8A | c.2623C>T (p.Leu875=) c.470C>T c.627C>T n.2751C>T c.2656C>T (p.Leu886=) | |
| 12 | g.51765750T>A | CA10586292 | SCN8A | c.2624T>A (p.Leu875Gln) c.471T>A c.628T>A n.2752T>A c.2657T>A (p.Leu886Gln) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51765750T>C | CA384887262 | SCN8A | c.2624T>C (p.Leu875Pro) c.471T>C c.628T>C n.2752T>C c.2657T>C (p.Leu886Pro) | |
| 12 | g.51765750T>G | CA384887269 | SCN8A | c.2624T>G (p.Leu875Arg) c.471T>G c.628T>G n.2752T>G c.2657T>G (p.Leu886Arg) | |
| 12 | g.51765750T= | CA2036184043 | SCN8A | c.2624T= (p.Leu875=) c.471T= c.628T= n.2752T= c.2657T= (p.Leu886=) | |
| 12 | g.51765751G>A | CA480061281 | SCN8A | c.2625G>A (p.Leu875=) c.472G>A c.629G>A n.2753G>A c.2658G>A (p.Leu886=) | gnomAD v4 |
| 12 | g.51765751G>C | CA480061282 | SCN8A | c.2625G>C (p.Leu875=) c.472G>C c.629G>C n.2753G>C c.2658G>C (p.Leu886=) | gnomAD v4 |
| 12 | g.51765751G>T | CA480061283 | SCN8A | c.2625G>T (p.Leu875=) c.472G>T c.629G>T n.2753G>T c.2658G>T (p.Leu886=) | |
| 12 | g.51765752G>A | CA384887275 | SCN8A | c.2626G>A (p.Gly876Ser) c.473G>A c.630G>A n.2754G>A c.2659G>A (p.Gly887Ser) | |
| 12 | g.51765752G>C | CA384887279 | SCN8A | c.2626G>C (p.Gly876Arg) c.473G>C c.630G>C n.2754G>C c.2659G>C (p.Gly887Arg) | |
| 12 | g.51765752G>T | CA384887282 | SCN8A | c.2626G>T (p.Gly876Cys) c.473G>T c.630G>T n.2754G>T c.2659G>T (p.Gly887Cys) | |
| 12 | g.51765753G>A | CA384887287 | SCN8A | c.2627G>A (p.Gly876Asp) c.474G>A c.631G>A n.2755G>A c.2660G>A (p.Gly887Asp) | ClinVar |
| 12 | g.51765753G>C | CA384887291 | SCN8A | c.2627G>C (p.Gly876Ala) c.474G>C c.631G>C n.2755G>C c.2660G>C (p.Gly887Ala) | |
| 12 | g.51765753G= | CA2036184052 | SCN8A | c.2627G= (p.Gly876=) c.474G= c.631G= n.2755G= c.2660G= (p.Gly887=) | |
| 12 | g.51765753G>T | CA16613814 | SCN8A | c.2627G>T (p.Gly876Val) c.474G>T c.631G>T n.2755G>T c.2660G>T (p.Gly887Val) | ClinVar dbSNP |
| 12 | g.51765754C>A | CA480061285 | SCN8A | c.2628C>A (p.Gly876=) c.475C>A c.632C>A n.2756C>A c.2661C>A (p.Gly887=) | |
| 12 | g.51765754C= | CA2036184061 | SCN8A | c.2628C= (p.Gly876=) c.475C= c.632C= n.2756C= c.2661C= (p.Gly887=) | |
| 12 | g.51765754C>G | CA480061286 | SCN8A | c.2628C>G (p.Gly876=) c.475C>G c.632C>G n.2756C>G c.2661C>G (p.Gly887=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51765754C>T | CA480061287 | SCN8A | c.2628C>T (p.Gly876=) c.475C>T c.632C>T n.2756C>T c.2661C>T (p.Gly887=) | gnomAD v4 |
| 12 | g.51765755A>C | CA384887297 | SCN8A | c.2629A>C (p.Asn877His) c.476A>C c.633A>C n.2757A>C c.2662A>C (p.Asn888His) | |
| 12 | g.51765755A>G | CA384887304 | SCN8A | c.2629A>G (p.Asn877Asp) c.476A>G c.633A>G n.2757A>G c.2662A>G (p.Asn888Asp) | |
| 12 | g.51765755A>T | CA384887307 | SCN8A | c.2629A>T (p.Asn877Tyr) c.476A>T c.633A>T n.2757A>T c.2662A>T (p.Asn888Tyr) | |
| 12 | g.51765756A= | CA2036184063 | SCN8A | c.2630A= (p.Asn877=) c.477A= c.634A= n.2758A= c.2663A= (p.Asn888=) | |
| 12 | g.51765756A>C | CA384887331 | SCN8A | c.2630A>C (p.Asn877Thr) c.477A>C c.634A>C n.2758A>C c.2663A>C (p.Asn888Thr) | dbSNP gnomAD v4 |
| 12 | g.51765756A>G | CA384887315 | SCN8A | c.2630A>G (p.Asn877Ser) c.477A>G c.634A>G n.2758A>G c.2663A>G (p.Asn888Ser) | |
| 12 | g.51765756A>T | CA384887311 | SCN8A | c.2630A>T (p.Asn877Ile) c.477A>T c.634A>T n.2758A>T c.2663A>T (p.Asn888Ile) | |
| 12 | g.51765757C>A | CA384887342 | SCN8A | c.2631C>A (p.Asn877Lys) c.478C>A c.635C>A n.2759C>A c.2664C>A (p.Asn888Lys) | |
| 12 | g.51765757C>G | CA384887339 | SCN8A | c.2631C>G (p.Asn877Lys) c.478C>G c.635C>G n.2759C>G c.2664C>G (p.Asn888Lys) | |
| 12 | g.51765757C>T | CA480061288 | SCN8A | c.2631C>T (p.Asn877=) c.478C>T c.635C>T n.2759C>T c.2664C>T (p.Asn888=) | |
| 12 | g.51765758C>A | CA384887347 | SCN8A | c.2632C>A (p.Leu878Met) c.479C>A c.636C>A n.2760C>A c.2665C>A (p.Leu889Met) | |
| 12 | g.51765758C= | CA2036184064 | SCN8A | c.2632C= (p.Leu878=) c.479C= c.636C= n.2760C= c.2665C= (p.Leu889=) | |
| 12 | g.51765758C>G | CA384887352 | SCN8A | c.2632C>G (p.Leu878Val) c.479C>G c.636C>G n.2760C>G c.2665C>G (p.Leu889Val) | |
| 12 | g.51765758C>T | CA302769 | SCN8A | c.2632C>T (p.Leu878=) c.479C>T c.636C>T n.2760C>T c.2665C>T (p.Leu889=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51765758_51765759insAC | CA2618840720 | SCN8A | c.2632_2633insAC (p.Leu878HisfsTer2) c.479_480insAC c.636_637insAC n.2760_2761insAC c.2665_2666insAC (p.Leu889HisfsTer2) | gnomAD v4 |
| 12 | g.51765759T>A | CA384887360 | SCN8A | c.2633T>A (p.Leu878Gln) c.480T>A c.637T>A n.2761T>A c.2666T>A (p.Leu889Gln) | |
| 12 | g.51765759T>C | CA384887365 | SCN8A | c.2633T>C (p.Leu878Pro) c.480T>C c.637T>C n.2761T>C c.2666T>C (p.Leu889Pro) | ClinVar dbSNP |
| 12 | g.51765759T>G | CA384887367 | SCN8A | c.2633T>G (p.Leu878Arg) c.480T>G c.637T>G n.2761T>G c.2666T>G (p.Leu889Arg) | |
| 12 | g.51765759T= | CA2036184067 | SCN8A | c.2633T= (p.Leu878=) c.480T= c.637T= n.2761T= c.2666T= (p.Leu889=) | |
| 12 | g.51765760G>A | CA480061291 | SCN8A | c.2634G>A (p.Leu878=) c.481G>A c.638G>A n.2762G>A c.2667G>A (p.Leu889=) | dbSNP |
| 12 | g.51765760G>C | CA480061292 | SCN8A | c.2634G>C (p.Leu878=) c.481G>C c.638G>C n.2762G>C c.2667G>C (p.Leu889=) | |
| 12 | g.51765760G= | CA2036184071 | SCN8A | c.2634G= (p.Leu878=) c.481G= c.638G= n.2762G= c.2667G= (p.Leu889=) | |
| 12 | g.51765760G>T | CA480061295 | SCN8A | c.2634G>T (p.Leu878=) c.481G>T c.638G>T n.2762G>T c.2667G>T (p.Leu889=) | |
| 12 | g.51765761A>C | CA384887374 | SCN8A | c.2635A>C (p.Thr879Pro) c.482A>C c.639A>C n.2763A>C c.2668A>C (p.Thr890Pro) | |
| 12 | g.51765761A>G | CA384887379 | SCN8A | c.2635A>G (p.Thr879Ala) c.482A>G c.639A>G n.2763A>G c.2668A>G (p.Thr890Ala) | ClinVar dbSNP |
| 12 | g.51765761A>T | CA384887381 | SCN8A | c.2635A>T (p.Thr879Ser) c.482A>T c.639A>T n.2763A>T c.2668A>T (p.Thr890Ser) | |
| 12 | g.51765762C>A | CA384887384 | SCN8A | c.2636C>A (p.Thr879Lys) c.483C>A c.640C>A n.2764C>A c.2669C>A (p.Thr890Lys) | |
| 12 | g.51765762C>G | CA384887386 | SCN8A | c.2636C>G (p.Thr879Arg) c.483C>G c.640C>G n.2764C>G c.2669C>G (p.Thr890Arg) | |
| 12 | g.51765762C>T | CA384887391 | SCN8A | c.2636C>T (p.Thr879Ile) c.483C>T c.640C>T n.2764C>T c.2669C>T (p.Thr890Ile) | gnomAD v4 |
| 12 | g.51765763A>C | CA480061299 | SCN8A | c.2637A>C (p.Thr879=) c.484A>C c.641A>C n.2765A>C c.2670A>C (p.Thr890=) | |
| 12 | g.51765763A>G | CA480061297 | SCN8A | c.2637A>G (p.Thr879=) c.484A>G c.641A>G n.2765A>G c.2670A>G (p.Thr890=) | gnomAD v4 |
| 12 | g.51765763A>T | CA480061300 | SCN8A | c.2637A>T (p.Thr879=) c.484A>T c.641A>T n.2765A>T c.2670A>T (p.Thr890=) | |
| 12 | g.51765764C>A | CA384887402 | SCN8A | c.2638C>A (p.Leu880Met) c.485C>A c.642C>A n.2766C>A c.2671C>A (p.Leu891Met) | |
| 12 | g.51765764C>G | CA384887395 | SCN8A | c.2638C>G (p.Leu880Val) c.485C>G c.642C>G n.2766C>G c.2671C>G (p.Leu891Val) | |
| 12 | g.51765764C>T | CA480061302 | SCN8A | c.2638C>T (p.Leu880=) c.485C>T c.642C>T n.2766C>T c.2671C>T (p.Leu891=) | |
| 12 | g.51765765T>A | CA384887416 | SCN8A | c.2639T>A (p.Leu880Gln) c.486T>A c.643T>A n.2767T>A c.2672T>A (p.Leu891Gln) | |
| 12 | g.51765765T>C | CA384887419 | SCN8A | c.2639T>C (p.Leu880Pro) c.486T>C c.643T>C n.2767T>C c.2672T>C (p.Leu891Pro) | |
| 12 | g.51765765T>G | CA384887424 | SCN8A | c.2639T>G (p.Leu880Arg) c.486T>G c.643T>G n.2767T>G c.2672T>G (p.Leu891Arg) | |
| 12 | g.51765766G>A | CA480061303 | SCN8A | c.2640G>A (p.Leu880=) c.487G>A c.644G>A n.2768G>A c.2673G>A (p.Leu891=) | |
| 12 | g.51765766G>C | CA480061305 | SCN8A | c.2640G>C (p.Leu880=) c.487G>C c.644G>C n.2768G>C c.2673G>C (p.Leu891=) | |
| 12 | g.51765766G>T | CA480061306 | SCN8A | c.2640G>T (p.Leu880=) c.487G>T c.644G>T n.2768G>T c.2673G>T (p.Leu891=) | |
| 12 | g.51765767G>A | CA384887430 | SCN8A | c.2641G>A (p.Val881Met) c.488G>A c.645G>A n.2769G>A c.2674G>A (p.Val892Met) | gnomAD v4 |
| 12 | g.51765767G>C | CA384887434 | SCN8A | c.2641G>C (p.Val881Leu) c.488G>C c.645G>C n.2769G>C c.2674G>C (p.Val892Leu) | ClinVar dbSNP |
| 12 | g.51765767G= | CA2036184086 | SCN8A | c.2641G= (p.Val881=) c.488G= c.645G= n.2769G= c.2674G= (p.Val892=) | |
| 12 | g.51765767G>T | CA384887435 | SCN8A | c.2641G>T (p.Val881Leu) c.488G>T c.645G>T n.2769G>T c.2674G>T (p.Val892Leu) | |
| 12 | g.51765768T>A | CA384887436 | SCN8A | c.2642T>A (p.Val881Glu) c.489T>A c.646T>A n.2770T>A c.2675T>A (p.Val892Glu) | |
| 12 | g.51765768T>C | CA318258 | SCN8A | c.2642T>C (p.Val881Ala) c.489T>C c.646T>C n.2770T>C c.2675T>C (p.Val892Ala) | dbSNP |
| 12 | g.51765768T>G | CA384887439 | SCN8A | c.2642T>G (p.Val881Gly) c.489T>G c.646T>G n.2770T>G c.2675T>G (p.Val892Gly) | |
| 12 | g.51765768T= | CA2036184091 | SCN8A | c.2642T= (p.Val881=) c.489T= c.646T= n.2770T= c.2675T= (p.Val892=) | |
| 12 | g.51765768_51765769insACCA | CA2740092380 | SCN8A | c.2642_2643insACCA (p.Leu882ProfsTer?) c.489_490insACCA c.646_647insACCA n.2770_2771insACCA c.2675_2676insACCA (p.Leu893ProfsTer?) | ClinVar |
| 12 | g.51765769G>A | CA480061307 | SCN8A | c.2643G>A (p.Val881=) c.490G>A c.647G>A n.2771G>A c.2676G>A (p.Val892=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51765769G>C | CA480061309 | SCN8A | c.2643G>C (p.Val881=) c.490G>C c.647G>C n.2771G>C c.2676G>C (p.Val892=) | |
| 12 | g.51765769G= | CA2036184092 | SCN8A | c.2643G= (p.Val881=) c.490G= c.647G= n.2771G= c.2676G= (p.Val892=) | |
| 12 | g.51765769G>T | CA480061310 | SCN8A | c.2643G>T (p.Val881=) c.490G>T c.647G>T n.2771G>T c.2676G>T (p.Val892=) | |
| 12 | g.51765770C>A | CA384887443 | SCN8A | c.2644C>A (p.Leu882Met) c.491C>A c.648C>A n.2772C>A c.2677C>A (p.Leu893Met) | |
| 12 | g.51765770C>G | CA384887446 | SCN8A | c.2644C>G (p.Leu882Val) c.491C>G c.648C>G n.2772C>G c.2677C>G (p.Leu893Val) | |
| 12 | g.51765770C>T | CA480061312 | SCN8A | c.2644C>T (p.Leu882=) c.491C>T c.648C>T n.2772C>T c.2677C>T (p.Leu893=) | |
| 12 | g.51765771T>A | CA384887451 | SCN8A | c.2645T>A (p.Leu882Gln) c.492T>A c.649T>A n.2773T>A c.2678T>A (p.Leu893Gln) | |
| 12 | g.51765771T>C | CA384887461 | SCN8A | c.2645T>C (p.Leu882Pro) c.492T>C c.649T>C n.2773T>C c.2678T>C (p.Leu893Pro) | |
| 12 | g.51765771T>G | CA384887464 | SCN8A | c.2645T>G (p.Leu882Arg) c.492T>G c.649T>G n.2773T>G c.2678T>G (p.Leu893Arg) | |
| 12 | g.51765772G>A | CA480061314 | SCN8A | c.2646G>A (p.Leu882=) c.493G>A c.650G>A n.2774G>A c.2679G>A (p.Leu893=) | |
| 12 | g.51765772G>C | CA480061315 | SCN8A | c.2646G>C (p.Leu882=) c.493G>C c.650G>C n.2774G>C c.2679G>C (p.Leu893=) | |
| 12 | g.51765772G>T | CA480061317 | SCN8A | c.2646G>T (p.Leu882=) c.493G>T c.650G>T n.2774G>T c.2679G>T (p.Leu893=) | COSMIC COSMIC |
| 12 | g.51765773G>A | CA384887477 | SCN8A | c.2647G>A (p.Ala883Thr) c.494G>A c.651G>A n.2775G>A c.2680G>A (p.Ala894Thr) | |
| 12 | g.51765773G>C | CA384887481 | SCN8A | c.2647G>C (p.Ala883Pro) c.494G>C c.651G>C n.2775G>C c.2680G>C (p.Ala894Pro) | |
| 12 | g.51765773G>T | CA384887470 | SCN8A | c.2647G>T (p.Ala883Ser) c.494G>T c.651G>T n.2775G>T c.2680G>T (p.Ala894Ser) | |
| 12 | g.51765774C>A | CA384887482 | SCN8A | c.2648C>A (p.Ala883Asp) c.495C>A c.652C>A n.2776C>A c.2681C>A (p.Ala894Asp) | |
| 12 | g.51765774C>G | CA384887484 | SCN8A | c.2648C>G (p.Ala883Gly) c.495C>G c.652C>G n.2776C>G c.2681C>G (p.Ala894Gly) | |
| 12 | g.51765774C>T | CA384887483 | SCN8A | c.2648C>T (p.Ala883Val) c.495C>T c.652C>T n.2776C>T c.2681C>T (p.Ala894Val) | |
| 12 | g.51765775C>A | CA480061318 | SCN8A | c.2649C>A (p.Ala883=) c.496C>A c.653C>A n.2777C>A c.2682C>A (p.Ala894=) | |
| 12 | g.51765775C>G | CA480061320 | SCN8A | c.2649C>G (p.Ala883=) c.496C>G c.653C>G n.2777C>G c.2682C>G (p.Ala894=) | |
| 12 | g.51765775C>T | CA480061322 | SCN8A | c.2649C>T (p.Ala883=) c.496C>T c.653C>T n.2777C>T c.2682C>T (p.Ala894=) | |
| 12 | g.51765776A>C | CA384887487 | SCN8A | c.2650A>C (p.Ile884Leu) c.497A>C c.654A>C n.2778A>C c.2683A>C (p.Ile895Leu) | |
| 12 | g.51765776A>G | CA384887488 | SCN8A | c.2650A>G (p.Ile884Val) c.497A>G c.654A>G n.2778A>G c.2683A>G (p.Ile895Val) | |
| 12 | g.51765776A>T | CA384887489 | SCN8A | c.2650A>T (p.Ile884Phe) c.497A>T c.654A>T n.2778A>T c.2683A>T (p.Ile895Phe) | |
| 12 | g.51765777T>A | CA384887490 | SCN8A | c.2651T>A (p.Ile884Asn) c.498T>A c.655T>A n.2779T>A c.2684T>A (p.Ile895Asn) | |
| 12 | g.51765777T>C | CA384887491 | SCN8A | c.2651T>C (p.Ile884Thr) c.498T>C c.655T>C n.2779T>C c.2684T>C (p.Ile895Thr) | |
| 12 | g.51765777T>G | CA384887494 | SCN8A | c.2651T>G (p.Ile884Ser) c.498T>G c.655T>G n.2779T>G c.2684T>G (p.Ile895Ser) | |
| 12 | g.51765778T>A | CA480061327 | SCN8A | c.2652T>A (p.Ile884=) c.499T>A c.656T>A n.2780T>A c.2685T>A (p.Ile895=) | |
| 12 | g.51765778T>C | CA480061329 | SCN8A | c.2652T>C (p.Ile884=) c.499T>C c.656T>C n.2780T>C c.2685T>C (p.Ile895=) | |
| 12 | g.51765778T>G | CA384887498 | SCN8A | c.2652T>G (p.Ile884Met) c.499T>G c.656T>G n.2780T>G c.2685T>G (p.Ile895Met) | |
| 12 | g.51765779A>C | CA384887500 | SCN8A | c.2653A>C (p.Ile885Leu) c.500A>C c.657A>C n.2781A>C c.2686A>C (p.Ile896Leu) | |
| 12 | g.51765779A>G | CA384887502 | SCN8A | c.2653A>G (p.Ile885Val) c.500A>G c.657A>G n.2781A>G c.2686A>G (p.Ile896Val) | gnomAD v4 |
| 12 | g.51765779A>T | CA384887505 | SCN8A | c.2653A>T (p.Ile885Phe) c.500A>T c.657A>T n.2781A>T c.2686A>T (p.Ile896Phe) | |
| 12 | g.51765780T>A | CA384887507 | SCN8A | c.2654T>A (p.Ile885Asn) c.501T>A c.658T>A n.2782T>A c.2687T>A (p.Ile896Asn) | |
| 12 | g.51765780T>C | CA384887511 | SCN8A | c.2654T>C (p.Ile885Thr) c.501T>C c.658T>C n.2782T>C c.2687T>C (p.Ile896Thr) | ClinVar dbSNP |
| 12 | g.51765780T>G | CA384887514 | SCN8A | c.2654T>G (p.Ile885Ser) c.501T>G c.658T>G n.2782T>G c.2687T>G (p.Ile896Ser) | |
| 12 | g.51765780T= | CA2036184098 | SCN8A | c.2654T= (p.Ile885=) c.501T= c.658T= n.2782T= c.2687T= (p.Ile896=) | |
| 12 | g.51765781T>A | CA480061331 | SCN8A | c.2655T>A (p.Ile885=) c.502T>A c.659T>A n.2783T>A c.2688T>A (p.Ile896=) | |
| 12 | g.51765781T>C | CA480061332 | SCN8A | c.2655T>C (p.Ile885=) c.502T>C c.659T>C n.2783T>C c.2688T>C (p.Ile896=) | |
| 12 | g.51765781T>G | CA384887517 | SCN8A | c.2655T>G (p.Ile885Met) c.502T>G c.659T>G n.2783T>G c.2688T>G (p.Ile896Met) | |
| 12 | g.51765782G>A | CA384887521 | SCN8A | c.2656G>A (p.Val886Ile) c.503G>A c.660G>A n.2784G>A c.2689G>A (p.Val897Ile) | |
| 12 | g.51765782G>C | CA384887525 | SCN8A | c.2656G>C (p.Val886Leu) c.503G>C c.660G>C n.2784G>C c.2689G>C (p.Val897Leu) | |
| 12 | g.51765782G>T | CA384887527 | SCN8A | c.2656G>T (p.Val886Phe) c.503G>T c.660G>T n.2784G>T c.2689G>T (p.Val897Phe) | |
| 12 | g.51765783T>A | CA384887528 | SCN8A | c.2657T>A (p.Val886Asp) c.504T>A c.661T>A n.2785T>A c.2690T>A (p.Val897Asp) | |
| 12 | g.51765783T>C | CA384887529 | SCN8A | c.2657T>C (p.Val886Ala) c.504T>C c.661T>C n.2785T>C c.2690T>C (p.Val897Ala) | |
| 12 | g.51765783T>G | CA384887532 | SCN8A | c.2657T>G (p.Val886Gly) c.504T>G c.661T>G n.2785T>G c.2690T>G (p.Val897Gly) | |
| 12 | g.51765784C>A | CA480061337 | SCN8A | c.2658C>A (p.Val886=) c.505C>A c.662C>A n.2786C>A c.2691C>A (p.Val897=) | |
| 12 | g.51765784C= | CA2036184105 | SCN8A | c.2658C= (p.Val886=) c.505C= c.662C= n.2786C= c.2691C= (p.Val897=) | |
| 12 | g.51765784C>G | CA480061336 | SCN8A | c.2658C>G (p.Val886=) c.505C>G c.662C>G n.2786C>G c.2691C>G (p.Val897=) | |
| 12 | g.51765784C>T | CA6571502 | SCN8A | c.2658C>T (p.Val886=) c.505C>T c.662C>T n.2786C>T c.2691C>T (p.Val897=) | dbSNP ExAC gnomAD v2 gnomAD v4 |