Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51765790_51765801del | CA2695216909 | SCN8A | c.2664_2675del (p.Ile888_Val892delinsMet) c.511_522del c.668_679del n.2792_2803del c.2697_2708del (p.Ile899_Val903delinsMet) | |
12 | g.51765793T>A | CA384887604 | SCN8A | c.2667T>A (p.Phe889Leu) c.514T>A c.671T>A n.2795T>A c.2700T>A (p.Phe900Leu) | |
12 | g.51765793T>C | CA480061349 | SCN8A | c.2667T>C (p.Phe889=) c.514T>C c.671T>C n.2795T>C c.2700T>C (p.Phe900=) | |
12 | g.51765793T>G | CA384887599 | SCN8A | c.2667T>G (p.Phe889Leu) c.514T>G c.671T>G n.2795T>G c.2700T>G (p.Phe900Leu) | |
12 | g.51765794G>A | CA10586293 | SCN8A | c.2668G>A (p.Ala890Thr) c.515G>A c.672G>A n.2796G>A c.2701G>A (p.Ala901Thr) | ClinVar dbSNP |
12 | g.51765794G>C | CA384887610 | SCN8A | c.2668G>C (p.Ala890Pro) c.515G>C c.672G>C n.2796G>C c.2701G>C (p.Ala901Pro) | ClinVar dbSNP |
12 | g.51765794G= | CA2036184120 | SCN8A | c.2668G= (p.Ala890=) c.515G= c.672G= n.2796G= c.2701G= (p.Ala901=) | |
12 | g.51765794G>T | CA384887612 | SCN8A | c.2668G>T (p.Ala890Ser) c.515G>T c.672G>T n.2796G>T c.2701G>T (p.Ala901Ser) | |
12 | g.51765795C>A | CA384887617 | SCN8A | c.2669C>A (p.Ala890Asp) c.516C>A c.673C>A n.2797C>A c.2702C>A (p.Ala901Asp) | |
12 | g.51765795C>G | CA384887622 | SCN8A | c.2669C>G (p.Ala890Gly) c.516C>G c.673C>G n.2797C>G c.2702C>G (p.Ala901Gly) | |
12 | g.51765795C>T | CA384887635 | SCN8A | c.2669C>T (p.Ala890Val) c.516C>T c.673C>T n.2797C>T c.2702C>T (p.Ala901Val) | |
12 | g.51765796C>A | CA480061354 | SCN8A | c.2670C>A (p.Ala890=) c.517C>A c.674C>A n.2798C>A c.2703C>A (p.Ala901=) | |
12 | g.51765796C= | CA2036184127 | SCN8A | c.2670C= (p.Ala890=) c.517C= c.674C= n.2798C= c.2703C= (p.Ala901=) | |
12 | g.51765796C>G | CA480061355 | SCN8A | c.2670C>G (p.Ala890=) c.517C>G c.674C>G n.2798C>G c.2703C>G (p.Ala901=) | ClinVar dbSNP |
12 | g.51765796C>T | CA6571503 | SCN8A | c.2670C>T (p.Ala890=) c.517C>T c.674C>T n.2798C>T c.2703C>T (p.Ala901=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765797G>A | CA384887642 | SCN8A | c.2671G>A (p.Val891Met) c.518G>A c.675G>A n.2799G>A c.2704G>A (p.Val902Met) | ClinVar dbSNP |
12 | g.51765797G>C | CA384887645 | SCN8A | c.2671G>C (p.Val891Leu) c.518G>C c.675G>C n.2799G>C c.2704G>C (p.Val902Leu) | |
12 | g.51765797G= | CA2036184132 | SCN8A | c.2671G= (p.Val891=) c.518G= c.675G= n.2799G= c.2704G= (p.Val902=) | |
12 | g.51765797G>T | CA384887655 | SCN8A | c.2671G>T (p.Val891Leu) c.518G>T c.675G>T n.2799G>T c.2704G>T (p.Val902Leu) | dbSNP |
12 | g.51765798T>A | CA384887658 | SCN8A | c.2672T>A (p.Val891Glu) c.519T>A c.676T>A n.2800T>A c.2705T>A (p.Val902Glu) | |
12 | g.51765798T>C | CA384887659 | SCN8A | c.2672T>C (p.Val891Ala) c.519T>C c.676T>C n.2800T>C c.2705T>C (p.Val902Ala) | ClinVar dbSNP |
12 | g.51765798T>G | CA16621922 | SCN8A | c.2672T>G (p.Val891Gly) c.519T>G c.676T>G n.2800T>G c.2705T>G (p.Val902Gly) | |
12 | g.51765799G>A | CA480061358 | SCN8A | c.2673G>A (p.Val891=) c.520G>A c.677G>A n.2801G>A c.2706G>A (p.Val902=) | |
12 | g.51765799G>C | CA480061359 | SCN8A | c.2673G>C (p.Val891=) c.520G>C c.677G>C n.2801G>C c.2706G>C (p.Val902=) | |
12 | g.51765799G>T | CA480061360 | SCN8A | c.2673G>T (p.Val891=) c.520G>T c.677G>T n.2801G>T c.2706G>T (p.Val902=) | |
12 | g.51765800G>A | CA384887660 | SCN8A | c.2674G>A (p.Val892Met) c.521G>A c.678G>A n.2802G>A c.2707G>A (p.Val903Met) | ClinVar dbSNP |
12 | g.51765800G>C | CA384887664 | SCN8A | c.2674G>C (p.Val892Leu) c.521G>C c.678G>C n.2802G>C c.2707G>C (p.Val903Leu) | |
12 | g.51765800G= | CA2036184139 | SCN8A | c.2674G= (p.Val892=) c.521G= c.678G= n.2802G= c.2707G= (p.Val903=) | |
12 | g.51765800G>T | CA384887662 | SCN8A | c.2674G>T (p.Val892Leu) c.521G>T c.678G>T n.2802G>T c.2707G>T (p.Val903Leu) | ClinVar |
12 | g.51765801T>A | CA384887667 | SCN8A | c.2675T>A (p.Val892Glu) c.522T>A c.679T>A n.2803T>A c.2708T>A (p.Val903Glu) | |
12 | g.51765801T>C | CA384887673 | SCN8A | c.2675T>C (p.Val892Ala) c.522T>C c.679T>C n.2803T>C c.2708T>C (p.Val903Ala) | ClinVar |
12 | g.51765801T>G | CA279639 | SCN8A | c.2675T>G (p.Val892Gly) c.522T>G c.679T>G n.2803T>G c.2708T>G (p.Val903Gly) | ClinVar dbSNP |
12 | g.51765801T= | CA2036184145 | SCN8A | c.2675T= (p.Val892=) c.522T= c.679T= n.2803T= c.2708T= (p.Val903=) | |
12 | g.51765802G>A | CA480061365 | SCN8A | c.2676G>A (p.Val892=) c.523G>A c.680G>A n.2804G>A c.2709G>A (p.Val903=) | |
12 | g.51765802G>C | CA480061367 | SCN8A | c.2676G>C (p.Val892=) c.523G>C c.680G>C n.2804G>C c.2709G>C (p.Val903=) | |
12 | g.51765802G>T | CA480061369 | SCN8A | c.2676G>T (p.Val892=) c.523G>T c.680G>T n.2804G>T c.2709G>T (p.Val903=) | |
12 | g.51765803G>A | CA384887677 | SCN8A | c.2677G>A (p.Gly893Arg) c.524G>A c.681G>A n.2805G>A c.2710G>A (p.Gly904Arg) | |
12 | g.51765803G>C | CA384887684 | SCN8A | c.2677G>C (p.Gly893Arg) c.524G>C c.681G>C n.2805G>C c.2710G>C (p.Gly904Arg) | |
12 | g.51765803G>T | CA384887679 | SCN8A | c.2677G>T (p.Gly893Trp) c.524G>T c.681G>T n.2805G>T c.2710G>T (p.Gly904Trp) | |
12 | g.51765804G>A | CA384887691 | SCN8A | c.2678G>A (p.Gly893Glu) c.525G>A c.682G>A n.2806G>A c.2711G>A (p.Gly904Glu) | COSMIC COSMIC |
12 | g.51765804G>C | CA384887693 | SCN8A | c.2678G>C (p.Gly893Ala) c.525G>C c.682G>C n.2806G>C c.2711G>C (p.Gly904Ala) | |
12 | g.51765804G>T | CA384887695 | SCN8A | c.2678G>T (p.Gly893Val) c.525G>T c.682G>T n.2806G>T c.2711G>T (p.Gly904Val) | |
12 | g.51765805G>A | CA480061373 | SCN8A | c.2679G>A (p.Gly893=) c.526G>A c.683G>A n.2807G>A c.2712G>A (p.Gly904=) | COSMIC COSMIC |
12 | g.51765805G>C | CA480061374 | SCN8A | c.2679G>C (p.Gly893=) c.526G>C c.683G>C n.2807G>C c.2712G>C (p.Gly904=) | gnomAD v4 |
12 | g.51765805G>T | CA480061375 | SCN8A | c.2679G>T (p.Gly893=) c.526G>T c.683G>T n.2807G>T c.2712G>T (p.Gly904=) | |
12 | g.51765806A>C | CA384887700 | SCN8A | c.2680A>C (p.Met894Leu) c.527A>C c.684A>C n.2808A>C c.2713A>C (p.Met905Leu) | |
12 | g.51765806A>G | CA384887703 | SCN8A | c.2680A>G (p.Met894Val) c.527A>G c.684A>G n.2808A>G c.2713A>G (p.Met905Val) | |
12 | g.51765806A>T | CA384887706 | SCN8A | c.2680A>T (p.Met894Leu) c.527A>T c.684A>T n.2808A>T c.2713A>T (p.Met905Leu) | |
12 | g.51765807T>A | CA384887713 | SCN8A | c.2681T>A (p.Met894Lys) c.528T>A c.685T>A n.2809T>A c.2714T>A (p.Met905Lys) | |
12 | g.51765807T>C | CA384887717 | SCN8A | c.2681T>C (p.Met894Thr) c.528T>C c.685T>C n.2809T>C c.2714T>C (p.Met905Thr) | |
12 | g.51765807T>G | CA384887722 | SCN8A | c.2681T>G (p.Met894Arg) c.528T>G c.685T>G n.2809T>G c.2714T>G (p.Met905Arg) | |
12 | g.51765808G>A | CA384887726 | SCN8A | c.2682G>A (p.Met894Ile) c.529G>A c.686G>A n.2810G>A c.2715G>A (p.Met905Ile) | |
12 | g.51765808G>C | CA384887729 | SCN8A | c.2682G>C (p.Met894Ile) c.529G>C c.686G>C n.2810G>C c.2715G>C (p.Met905Ile) | |
12 | g.51765808G>T | CA384887732 | SCN8A | c.2682G>T (p.Met894Ile) c.529G>T c.686G>T n.2810G>T c.2715G>T (p.Met905Ile) | |
12 | g.51765809C>A | CA384887736 | SCN8A | c.2683C>A (p.Gln895Lys) c.530C>A c.687C>A n.2811C>A c.2716C>A (p.Gln906Lys) | |
12 | g.51765809C>G | CA384887738 | SCN8A | c.2683C>G (p.Gln895Glu) c.530C>G c.687C>G n.2811C>G c.2716C>G (p.Gln906Glu) | ClinVar |
12 | g.51765809C>T | CA384887737 | SCN8A | c.2683C>T (p.Gln895Ter) c.530C>T c.687C>T n.2811C>T c.2716C>T (p.Gln906Ter) | |
12 | g.51765810A>C | CA384887744 | SCN8A | c.2684A>C (p.Gln895Pro) c.531A>C c.688A>C n.2812A>C c.2717A>C (p.Gln906Pro) | |
12 | g.51765810A>G | CA384887748 | SCN8A | c.2684A>G (p.Gln895Arg) c.531A>G c.688A>G n.2812A>G c.2717A>G (p.Gln906Arg) | |
12 | g.51765810A>T | CA384887751 | SCN8A | c.2684A>T (p.Gln895Leu) c.531A>T c.688A>T n.2812A>T c.2717A>T (p.Gln906Leu) | |
12 | g.51765811A= | CA2036184154 | SCN8A | c.2685A= (p.Gln895=) c.532A= c.689A= n.2813A= c.2718A= (p.Gln906=) | |
12 | g.51765811A>C | CA384887756 | SCN8A | c.2685A>C (p.Gln895His) c.532A>C c.689A>C n.2813A>C c.2718A>C (p.Gln906His) | ClinVar |
12 | g.51765811A>G | CA6571504 | SCN8A | c.2685A>G (p.Gln895=) c.532A>G c.689A>G n.2813A>G c.2718A>G (p.Gln906=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765811A>T | CA384887766 | SCN8A | c.2685A>T (p.Gln895His) c.532A>T c.689A>T n.2813A>T c.2718A>T (p.Gln906His) | |
12 | g.51765812C>A | CA384887774 | SCN8A | c.2686C>A (p.Leu896Ile) c.533C>A c.690C>A n.2814C>A c.2719C>A (p.Leu907Ile) | |
12 | g.51765812C>G | CA384887777 | SCN8A | c.2686C>G (p.Leu896Val) c.533C>G c.690C>G n.2814C>G c.2719C>G (p.Leu907Val) | |
12 | g.51765812C>T | CA384887782 | SCN8A | c.2686C>T (p.Leu896Phe) c.533C>T c.690C>T n.2814C>T c.2719C>T (p.Leu907Phe) | |
12 | g.51765813T>A | CA384887795 | SCN8A | c.2687T>A (p.Leu896His) c.534T>A c.691T>A n.2815T>A c.2720T>A (p.Leu907His) | COSMIC COSMIC |
12 | g.51765813T>C | CA384887792 | SCN8A | c.2687T>C (p.Leu896Pro) c.534T>C c.691T>C n.2815T>C c.2720T>C (p.Leu907Pro) | |
12 | g.51765813T>G | CA384887789 | SCN8A | c.2687T>G (p.Leu896Arg) c.534T>G c.691T>G n.2815T>G c.2720T>G (p.Leu907Arg) | |
12 | g.51765814C>A | CA480061388 | SCN8A | c.2688C>A (p.Leu896=) c.535C>A c.692C>A n.2816C>A c.2721C>A (p.Leu907=) | |
12 | g.51765814C>G | CA480061389 | SCN8A | c.2688C>G (p.Leu896=) c.535C>G c.692C>G n.2816C>G c.2721C>G (p.Leu907=) | |
12 | g.51765814C>T | CA480061390 | SCN8A | c.2688C>T (p.Leu896=) c.535C>T c.692C>T n.2816C>T c.2721C>T (p.Leu907=) | |
12 | g.51765815T>A | CA384887802 | SCN8A | c.2689T>A (p.Phe897Ile) c.536T>A c.693T>A n.2817T>A c.2722T>A (p.Phe908Ile) | |
12 | g.51765815T>C | CA384887806 | SCN8A | c.2689T>C (p.Phe897Leu) c.536T>C c.693T>C n.2817T>C c.2722T>C (p.Phe908Leu) | COSMIC COSMIC |
12 | g.51765815T>G | CA384887809 | SCN8A | c.2689T>G (p.Phe897Val) c.536T>G c.693T>G n.2817T>G c.2722T>G (p.Phe908Val) | |
12 | g.51765816T>A | CA384887814 | SCN8A | c.2690T>A (p.Phe897Tyr) c.537T>A c.694T>A n.2818T>A c.2723T>A (p.Phe908Tyr) | |
12 | g.51765816T>C | CA384887816 | SCN8A | c.2690T>C (p.Phe897Ser) c.537T>C c.694T>C n.2818T>C c.2723T>C (p.Phe908Ser) | |
12 | g.51765816T>G | CA384887818 | SCN8A | c.2690T>G (p.Phe897Cys) c.537T>G c.694T>G n.2818T>G c.2723T>G (p.Phe908Cys) | |
12 | g.51765817T>A | CA384887830 | SCN8A | c.2691T>A (p.Phe897Leu) c.538T>A c.695T>A n.2819T>A c.2724T>A (p.Phe908Leu) | |
12 | g.51765817T>C | CA16043755 | SCN8A | c.2691T>C (p.Phe897=) c.538T>C c.695T>C n.2819T>C c.2724T>C (p.Phe908=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765817T>G | CA384887833 | SCN8A | c.2691T>G (p.Phe897Leu) c.538T>G c.695T>G n.2819T>G c.2724T>G (p.Phe908Leu) | |
12 | g.51765817T= | CA2036184163 | SCN8A | c.2691T= (p.Phe897=) c.538T= c.695T= n.2819T= c.2724T= (p.Phe908=) | |
12 | g.51765818G>A | CA384887838 | SCN8A | c.2692G>A (p.Gly898Arg) c.539G>A c.696G>A n.2820G>A c.2725G>A (p.Gly909Arg) | |
12 | g.51765818G>C | CA384887855 | SCN8A | c.2692G>C (p.Gly898Arg) c.539G>C c.696G>C n.2820G>C c.2725G>C (p.Gly909Arg) | |
12 | g.51765818G= | CA2036184168 | SCN8A | c.2692G= (p.Gly898=) c.539G= c.696G= n.2820G= c.2725G= (p.Gly909=) | |
12 | g.51765818G>T | CA384887857 | SCN8A | c.2692G>T (p.Gly898Ter) c.539G>T c.696G>T n.2820G>T c.2725G>T (p.Gly909Ter) | dbSNP |
12 | g.51765819del | CA2573148769 | SCN8A | c.2693del (p.Gly898GlufsTer?) c.540del c.697del n.2821del c.2726del (p.Gly909GlufsTer?) | ClinVar dbSNP |
12 | g.51765819G>A | CA384887869 | SCN8A | c.2693G>A (p.Gly898Glu) c.540G>A c.697G>A n.2821G>A c.2726G>A (p.Gly909Glu) | gnomAD v4 COSMIC COSMIC |
12 | g.51765819G>C | CA384887864 | SCN8A | c.2693G>C (p.Gly898Ala) c.540G>C c.697G>C n.2821G>C c.2726G>C (p.Gly909Ala) | |
12 | g.51765819G>T | CA384887865 | SCN8A | c.2693G>T (p.Gly898Val) c.540G>T c.697G>T n.2821G>T c.2726G>T (p.Gly909Val) | |
12 | g.51765820A>C | CA480061402 | SCN8A | c.2694A>C (p.Gly898=) c.541A>C c.698A>C n.2822A>C c.2727A>C (p.Gly909=) | |
12 | g.51765820A>G | CA480061403 | SCN8A | c.2694A>G (p.Gly898=) c.541A>G c.698A>G n.2822A>G c.2727A>G (p.Gly909=) | gnomAD v4 |
12 | g.51765820A>T | CA480061404 | SCN8A | c.2694A>T (p.Gly898=) c.541A>T c.698A>T n.2822A>T c.2727A>T (p.Gly909=) | |
12 | g.51765821A>C | CA384887877 | SCN8A | c.2695A>C (p.Lys899Gln) c.542A>C c.699A>C n.2823A>C c.2728A>C (p.Lys910Gln) | |
12 | g.51765821A>G | CA384887883 | SCN8A | c.2695A>G (p.Lys899Glu) c.542A>G c.699A>G n.2823A>G c.2728A>G (p.Lys910Glu) | |
12 | g.51765821A>T | CA384887885 | SCN8A | c.2695A>T (p.Lys899Ter) c.542A>T c.699A>T n.2823A>T c.2728A>T (p.Lys910Ter) | |
12 | g.51765822A>C | CA384887892 | SCN8A | c.2696A>C (p.Lys899Thr) c.543A>C c.700A>C n.2824A>C c.2729A>C (p.Lys910Thr) | |
12 | g.51765822A>G | CA384887895 | SCN8A | c.2696A>G (p.Lys899Arg) c.543A>G c.700A>G n.2824A>G c.2729A>G (p.Lys910Arg) | |
12 | g.51765822A>T | CA384887898 | SCN8A | c.2696A>T (p.Lys899Ile) c.543A>T c.700A>T n.2824A>T c.2729A>T (p.Lys910Ile) | |
12 | g.51765823A>C | CA384887901 | SCN8A | c.2697A>C (p.Lys899Asn) c.544A>C c.701A>C n.2825A>C c.2730A>C (p.Lys910Asn) | |
12 | g.51765823A>G | CA480061410 | SCN8A | c.2697A>G (p.Lys899=) c.544A>G c.701A>G n.2825A>G c.2730A>G (p.Lys910=) | |
12 | g.51765823A>T | CA384887905 | SCN8A | c.2697A>T (p.Lys899Asn) c.544A>T c.701A>T n.2825A>T c.2730A>T (p.Lys910Asn) | |
12 | g.51765824A>C | CA384887911 | SCN8A | c.2698A>C (p.Ser900Arg) c.545A>C c.702A>C n.2826A>C c.2731A>C (p.Ser911Arg) | |
12 | g.51765824A>G | CA384887914 | SCN8A | c.2698A>G (p.Ser900Gly) c.545A>G c.702A>G n.2826A>G c.2731A>G (p.Ser911Gly) | gnomAD v4 |
12 | g.51765824A>T | CA384887919 | SCN8A | c.2698A>T (p.Ser900Cys) c.545A>T c.702A>T n.2826A>T c.2731A>T (p.Ser911Cys) | |
12 | g.51765825G>A | CA384887935 | SCN8A | c.2699G>A (p.Ser900Asn) c.546G>A c.703G>A n.2827G>A c.2732G>A (p.Ser911Asn) | |
12 | g.51765825G>C | CA384887940 | SCN8A | c.2699G>C (p.Ser900Thr) c.546G>C c.703G>C n.2827G>C c.2732G>C (p.Ser911Thr) | |
12 | g.51765825G>T | CA384887922 | SCN8A | c.2699G>T (p.Ser900Ile) c.546G>T c.703G>T n.2827G>T c.2732G>T (p.Ser911Ile) | |
12 | g.51765826C>A | CA384887943 | SCN8A | c.2700C>A (p.Ser900Arg) c.547C>A c.704C>A n.2828C>A c.2733C>A (p.Ser911Arg) | |
12 | g.51765826C>G | CA384887942 | SCN8A | c.2700C>G (p.Ser900Arg) c.547C>G c.704C>G n.2828C>G c.2733C>G (p.Ser911Arg) | |
12 | g.51765826C>T | CA480061416 | SCN8A | c.2700C>T (p.Ser900=) c.547C>T c.704C>T n.2828C>T c.2733C>T (p.Ser911=) | |
12 | g.51765827T>A | CA384887944 | SCN8A | c.2701T>A (p.Tyr901Asn) c.548T>A c.705T>A n.2829T>A c.2734T>A (p.Tyr912Asn) | |
12 | g.51765827T>C | CA384887946 | SCN8A | c.2701T>C (p.Tyr901His) c.548T>C c.705T>C n.2829T>C c.2734T>C (p.Tyr912His) | |
12 | g.51765827T>G | CA384887949 | SCN8A | c.2701T>G (p.Tyr901Asp) c.548T>G c.705T>G n.2829T>G c.2734T>G (p.Tyr912Asp) | |
12 | g.51765828A= | CA2036184172 | SCN8A | c.2702A= (p.Tyr901=) c.549A= c.706A= n.2830A= c.2735A= (p.Tyr912=) | |
12 | g.51765828A>C | CA384887950 | SCN8A | c.2702A>C (p.Tyr901Ser) c.549A>C c.706A>C n.2830A>C c.2735A>C (p.Tyr912Ser) | |
12 | g.51765828A>G | CA384887951 | SCN8A | c.2702A>G (p.Tyr901Cys) c.549A>G c.706A>G n.2830A>G c.2735A>G (p.Tyr912Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.51765828A>T | CA384887954 | SCN8A | c.2702A>T (p.Tyr901Phe) c.549A>T c.706A>T n.2830A>T c.2735A>T (p.Tyr912Phe) | |
12 | g.51765829C>A | CA384887979 | SCN8A | c.2703C>A (p.Tyr901Ter) c.550C>A c.707C>A n.2831C>A c.2736C>A (p.Tyr912Ter) | |
12 | g.51765829C>G | CA384887982 | SCN8A | c.2703C>G (p.Tyr901Ter) c.550C>G c.707C>G n.2831C>G c.2736C>G (p.Tyr912Ter) | |
12 | g.51765829C>T | CA480061420 | SCN8A | c.2703C>T (p.Tyr901=) c.550C>T c.707C>T n.2831C>T c.2736C>T (p.Tyr912=) | gnomAD v4 |
12 | g.51765830A= | CA2036184177 | SCN8A | c.2704A= (p.Lys902=) c.551A= c.708A= n.2832A= c.2737A= (p.Lys913=) | |
12 | g.51765830A>C | CA384887985 | SCN8A | c.2704A>C (p.Lys902Gln) c.551A>C c.708A>C n.2832A>C c.2737A>C (p.Lys913Gln) | |
12 | g.51765830A>G | CA384887989 | SCN8A | c.2704A>G (p.Lys902Glu) c.551A>G c.708A>G n.2832A>G c.2737A>G (p.Lys913Glu) | |
12 | g.51765830A>T | CA384887995 | SCN8A | c.2704A>T (p.Lys902Ter) c.551A>T c.708A>T n.2832A>T c.2737A>T (p.Lys913Ter) | dbSNP |
12 | g.51765832del | CA2499221733 | SCN8A | c.2706del (p.Glu903SerfsTer?) c.553del c.710del n.2834del c.2739del (p.Glu914SerfsTer?) | ClinVar dbSNP |
12 | g.51765831A>C | CA384888001 | SCN8A | c.2705A>C (p.Lys902Thr) c.552A>C c.709A>C n.2833A>C c.2738A>C (p.Lys913Thr) | |
12 | g.51765831A>G | CA384888004 | SCN8A | c.2705A>G (p.Lys902Arg) c.552A>G c.709A>G n.2833A>G c.2738A>G (p.Lys913Arg) | |
12 | g.51765831A>T | CA384887999 | SCN8A | c.2705A>T (p.Lys902Ile) c.552A>T c.709A>T n.2833A>T c.2738A>T (p.Lys913Ile) | |
12 | g.51765832A>C | CA384888005 | SCN8A | c.2706A>C (p.Lys902Asn) c.553A>C c.710A>C n.2834A>C c.2739A>C (p.Lys913Asn) | |
12 | g.51765832A>G | CA480061426 | SCN8A | c.2706A>G (p.Lys902=) c.553A>G c.710A>G n.2834A>G c.2739A>G (p.Lys913=) | |
12 | g.51765832A>T | CA384888009 | SCN8A | c.2706A>T (p.Lys902Asn) c.553A>T c.710A>T n.2834A>T c.2739A>T (p.Lys913Asn) | |
12 | g.51765833G>A | CA384888014 | SCN8A | c.2707G>A (p.Glu903Lys) c.554G>A c.711G>A n.2835G>A c.2740G>A (p.Glu914Lys) | |
12 | g.51765833G>C | CA384888016 | SCN8A | c.2707G>C (p.Glu903Gln) c.554G>C c.711G>C n.2835G>C c.2740G>C (p.Glu914Gln) | COSMIC COSMIC |
12 | g.51765833G= | CA2036184182 | SCN8A | c.2707G= (p.Glu903=) c.554G= c.711G= n.2835G= c.2740G= (p.Glu914=) | |
12 | g.51765833G>T | CA384888020 | SCN8A | c.2707G>T (p.Glu903Ter) c.554G>T c.711G>T n.2835G>T c.2740G>T (p.Glu914Ter) | dbSNP |
12 | g.51765834A>C | CA384888030 | SCN8A | c.2708A>C (p.Glu903Ala) c.555A>C c.712A>C n.2836A>C c.2741A>C (p.Glu914Ala) | ClinVar dbSNP |
12 | g.51765834A>G | CA384888024 | SCN8A | c.2708A>G (p.Glu903Gly) c.555A>G c.712A>G n.2836A>G c.2741A>G (p.Glu914Gly) | |
12 | g.51765834A>T | CA384888027 | SCN8A | c.2708A>T (p.Glu903Val) c.555A>T c.712A>T n.2836A>T c.2741A>T (p.Glu914Val) | |
12 | g.51765835G>A | CA236317158 | SCN8A | c.2709G>A (p.Glu903=) c.556G>A c.713G>A n.2837G>A c.2742G>A (p.Glu914=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765835G>C | CA384888036 | SCN8A | c.2709G>C (p.Glu903Asp) c.556G>C c.713G>C n.2837G>C c.2742G>C (p.Glu914Asp) | |
12 | g.51765835G= | CA2036184185 | SCN8A | c.2709G= (p.Glu903=) c.556G= c.713G= n.2837G= c.2742G= (p.Glu914=) | |
12 | g.51765835G>T | CA384888045 | SCN8A | c.2709G>T (p.Glu903Asp) c.556G>T c.713G>T n.2837G>T c.2742G>T (p.Glu914Asp) | |
12 | g.51765836T>A | CA384888050 | SCN8A | c.2710T>A (p.Cys904Ser) c.557T>A c.714T>A n.2838T>A c.2743T>A (p.Cys915Ser) | |
12 | g.51765836T>C | CA384888055 | SCN8A | c.2710T>C (p.Cys904Arg) c.557T>C c.714T>C n.2838T>C c.2743T>C (p.Cys915Arg) | |
12 | g.51765836T>G | CA384888057 | SCN8A | c.2710T>G (p.Cys904Gly) c.557T>G c.714T>G n.2838T>G c.2743T>G (p.Cys915Gly) | |
12 | g.51765837G>A | CA384888068 | SCN8A | c.2711G>A (p.Cys904Tyr) c.558G>A c.715G>A n.2839G>A c.2744G>A (p.Cys915Tyr) | ClinVar |
12 | g.51765837G>C | CA384888064 | SCN8A | c.2711G>C (p.Cys904Ser) c.558G>C c.715G>C n.2839G>C c.2744G>C (p.Cys915Ser) | |
12 | g.51765837G>T | CA384888061 | SCN8A | c.2711G>T (p.Cys904Phe) c.558G>T c.715G>T n.2839G>T c.2744G>T (p.Cys915Phe) | |
12 | g.51765838T>A | CA384888074 | SCN8A | c.2712T>A (p.Cys904Ter) c.559T>A c.716T>A n.2840T>A c.2745T>A (p.Cys915Ter) | dbSNP |
12 | g.51765838T>C | CA480061434 | SCN8A | c.2712T>C (p.Cys904=) c.559T>C c.716T>C n.2840T>C c.2745T>C (p.Cys915=) | ClinVar dbSNP |
12 | g.51765838T>G | CA384888078 | SCN8A | c.2712T>G (p.Cys904Trp) c.559T>G c.716T>G n.2840T>G c.2745T>G (p.Cys915Trp) | |
12 | g.51765838T= | CA2036184191 | SCN8A | c.2712T= (p.Cys904=) c.559T= c.716T= n.2840T= c.2745T= (p.Cys915=) | |
12 | g.51765839G>A | CA384888083 | SCN8A | c.2713G>A (p.Val905Ile) c.560G>A c.717G>A n.2841G>A c.2746G>A (p.Val916Ile) | |
12 | g.51765839G>C | CA384888089 | SCN8A | c.2713G>C (p.Val905Leu) c.560G>C c.717G>C n.2841G>C c.2746G>C (p.Val916Leu) | |
12 | g.51765839G>T | CA384888096 | SCN8A | c.2713G>T (p.Val905Phe) c.560G>T c.717G>T n.2841G>T c.2746G>T (p.Val916Phe) | |
12 | g.51765840T>A | CA384888099 | SCN8A | c.2714T>A (p.Val905Asp) c.561T>A c.718T>A n.2842T>A c.2747T>A (p.Val916Asp) | |
12 | g.51765840T>C | CA384888103 | SCN8A | c.2714T>C (p.Val905Ala) c.561T>C c.718T>C n.2842T>C c.2747T>C (p.Val916Ala) | |
12 | g.51765840T>G | CA384888112 | SCN8A | c.2714T>G (p.Val905Gly) c.561T>G c.718T>G n.2842T>G c.2747T>G (p.Val916Gly) | |
12 | g.51765841C>A | CA480061438 | SCN8A | c.2715C>A (p.Val905=) c.562C>A c.719C>A n.2843C>A c.2748C>A (p.Val916=) | |
12 | g.51765841C= | CA2036184195 | SCN8A | c.2715C= (p.Val905=) c.562C= c.719C= n.2843C= c.2748C= (p.Val916=) | |
12 | g.51765841C>G | CA6571505 | SCN8A | c.2715C>G (p.Val905=) c.562C>G c.719C>G n.2843C>G c.2748C>G (p.Val916=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51765841C>T | CA480061436 | SCN8A | c.2715C>T (p.Val905=) c.562C>T c.719C>T n.2843C>T c.2748C>T (p.Val916=) | |
12 | g.51765842T>A | CA384888116 | SCN8A | c.2716T>A (p.Cys906Ser) c.563T>A c.720T>A n.2844T>A c.2749T>A (p.Cys917Ser) | |
12 | g.51765842T>C | CA384888118 | SCN8A | c.2716T>C (p.Cys906Arg) c.563T>C c.720T>C n.2844T>C c.2749T>C (p.Cys917Arg) | |
12 | g.51765842T>G | CA384888124 | SCN8A | c.2716T>G (p.Cys906Gly) c.563T>G c.720T>G n.2844T>G c.2749T>G (p.Cys917Gly) | |
12 | g.51765843G>A | CA384888133 | SCN8A | c.2717G>A (p.Cys906Tyr) c.564G>A c.721G>A n.2845G>A c.2750G>A (p.Cys917Tyr) | |
12 | g.51765843G>C | CA384888135 | SCN8A | c.2717G>C (p.Cys906Ser) c.564G>C c.721G>C n.2845G>C c.2750G>C (p.Cys917Ser) | |
12 | g.51765843G>T | CA384888131 | SCN8A | c.2717G>T (p.Cys906Phe) c.564G>T c.721G>T n.2845G>T c.2750G>T (p.Cys917Phe) | |
12 | g.51765844C>A | CA384888139 | SCN8A | c.2718C>A (p.Cys906Ter) c.565C>A c.722C>A n.2846C>A c.2751C>A (p.Cys917Ter) | dbSNP |
12 | g.51765844C= | CA2036184200 | SCN8A | c.2718C= (p.Cys906=) c.565C= c.722C= n.2846C= c.2751C= (p.Cys917=) | |
12 | g.51765844C>G | CA384888149 | SCN8A | c.2718C>G (p.Cys906Trp) c.565C>G c.722C>G n.2846C>G c.2751C>G (p.Cys917Trp) | |
12 | g.51765844C>T | CA480061442 | SCN8A | c.2718C>T (p.Cys906=) c.565C>T c.722C>T n.2846C>T c.2751C>T (p.Cys917=) | |
12 | g.51765845A= | CA2036184205 | SCN8A | c.2719A= (p.Lys907=) c.566A= c.723A= n.2847A= c.2752A= (p.Lys918=) | |
12 | g.51765845A>C | CA384888152 | SCN8A | c.2719A>C (p.Lys907Gln) c.566A>C c.723A>C n.2847A>C c.2752A>C (p.Lys918Gln) | |
12 | g.51765845A>G | CA384888159 | SCN8A | c.2719A>G (p.Lys907Glu) c.566A>G c.723A>G n.2847A>G c.2752A>G (p.Lys918Glu) | |
12 | g.51765845A>T | CA384888162 | SCN8A | c.2719A>T (p.Lys907Ter) c.566A>T c.723A>T n.2847A>T c.2752A>T (p.Lys918Ter) | dbSNP |
12 | g.51765846A= | CA2036184210 | SCN8A | c.2720A= (p.Lys907=) c.567A= c.724A= n.2848A= c.2753A= (p.Lys918=) | |
12 | g.51765846A>C | CA384888194 | SCN8A | c.2720A>C (p.Lys907Thr) c.567A>C c.724A>C n.2848A>C c.2753A>C (p.Lys918Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51765846A>G | CA384888168 | SCN8A | c.2720A>G (p.Lys907Arg) c.567A>G c.724A>G n.2848A>G c.2753A>G (p.Lys918Arg) | ClinVar |
12 | g.51765846A>T | CA384888190 | SCN8A | c.2720A>T (p.Lys907Met) c.567A>T c.724A>T n.2848A>T c.2753A>T (p.Lys918Met) | |
12 | g.51765847G>A | CA480061443 | SCN8A | c.2721G>A (p.Lys907=) c.568G>A c.725G>A n.2849G>A c.2754G>A (p.Lys918=) | gnomAD v4 |
12 | g.51765847G>C | CA236317164 | SCN8A | c.2721G>C (p.Lys907Asn) c.568G>C c.725G>C n.2849G>C c.2754G>C (p.Lys918Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765847G= | CA2036184212 | SCN8A | c.2721G= (p.Lys907=) c.568G= c.725G= n.2849G= c.2754G= (p.Lys918=) | |
12 | g.51765847G>T | CA384888199 | SCN8A | c.2721G>T (p.Lys907Asn) c.568G>T c.725G>T n.2849G>T c.2754G>T (p.Lys918Asn) | |
12 | g.51765848A>C | CA384888203 | SCN8A | c.2722A>C (p.Ile908Leu) c.569A>C c.726A>C n.2850A>C c.2755A>C (p.Ile919Leu) | |
12 | g.51765848A>G | CA384888204 | SCN8A | c.2722A>G (p.Ile908Val) c.569A>G c.726A>G n.2850A>G c.2755A>G (p.Ile919Val) | |
12 | g.51765848A>T | CA384888205 | SCN8A | c.2722A>T (p.Ile908Phe) c.569A>T c.726A>T n.2850A>T c.2755A>T (p.Ile919Phe) | |
12 | g.51765849T>A | CA384888212 | SCN8A | c.2723T>A (p.Ile908Asn) c.570T>A c.727T>A n.2851T>A c.2756T>A (p.Ile919Asn) | |
12 | g.51765849T>C | CA384888211 | SCN8A | c.2723T>C (p.Ile908Thr) c.570T>C c.727T>C n.2851T>C c.2756T>C (p.Ile919Thr) | |
12 | g.51765849T>G | CA384888209 | SCN8A | c.2723T>G (p.Ile908Ser) c.570T>G c.727T>G n.2851T>G c.2756T>G (p.Ile919Ser) | |
12 | g.51765850C>A | CA480061444 | SCN8A | c.2724C>A (p.Ile908=) c.571C>A c.728C>A n.2852C>A c.2757C>A (p.Ile919=) | |
12 | g.51765850C>G | CA384888213 | SCN8A | c.2724C>G (p.Ile908Met) c.571C>G c.728C>G n.2852C>G c.2757C>G (p.Ile919Met) | |
12 | g.51765850C>T | CA480061447 | SCN8A | c.2724C>T (p.Ile908=) c.571C>T c.728C>T n.2852C>T c.2757C>T (p.Ile919=) | |
12 | g.51765851A>C | CA384888220 | SCN8A | c.2725A>C (p.Asn909His) c.572A>C c.729A>C n.2853A>C c.2758A>C (p.Asn920His) | |
12 | g.51765851A>G | CA384888215 | SCN8A | c.2725A>G (p.Asn909Asp) c.572A>G c.729A>G n.2853A>G c.2758A>G (p.Asn920Asp) | |
12 | g.51765851A>T | CA384888218 | SCN8A | c.2725A>T (p.Asn909Tyr) c.572A>T c.729A>T n.2853A>T c.2758A>T (p.Asn920Tyr) | |
12 | g.51765852A= | CA2036184218 | SCN8A | c.2726A= (p.Asn909=) c.573A= c.730A= n.2854A= c.2759A= (p.Asn920=) | |
12 | g.51765852A>C | CA384888224 | SCN8A | c.2726A>C (p.Asn909Thr) c.573A>C c.730A>C n.2854A>C c.2759A>C (p.Asn920Thr) | |
12 | g.51765852A>G | CA6571506 | SCN8A | c.2726A>G (p.Asn909Ser) c.573A>G c.730A>G n.2854A>G c.2759A>G (p.Asn920Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51765852A>T | CA384888228 | SCN8A | c.2726A>T (p.Asn909Ile) c.573A>T c.730A>T n.2854A>T c.2759A>T (p.Asn920Ile) | COSMIC COSMIC |
12 | g.51765853C>A | CA384888233 | SCN8A | c.2727C>A (p.Asn909Lys) c.574C>A c.731C>A n.2855C>A c.2760C>A (p.Asn920Lys) | dbSNP |
12 | g.51765853C= | CA2036184221 | SCN8A | c.2727C= (p.Asn909=) c.574C= c.731C= n.2855C= c.2760C= (p.Asn920=) | |
12 | g.51765853C>G | CA384888236 | SCN8A | c.2727C>G (p.Asn909Lys) c.574C>G c.731C>G n.2855C>G c.2760C>G (p.Asn920Lys) | |
12 | g.51765853C>T | CA480061449 | SCN8A | c.2727C>T (p.Asn909=) c.574C>T c.731C>T n.2855C>T c.2760C>T (p.Asn920=) | |
12 | g.51765854C>A | CA384888249 | SCN8A | c.2728C>A (p.Gln910Lys) c.575C>A c.732C>A n.2856C>A c.2761C>A (p.Gln921Lys) | |
12 | g.51765854C= | CA2036184223 | SCN8A | c.2728C= (p.Gln910=) c.575C= c.732C= n.2856C= c.2761C= (p.Gln921=) | |
12 | g.51765854C>G | CA384888241 | SCN8A | c.2728C>G (p.Gln910Glu) c.575C>G c.732C>G n.2856C>G c.2761C>G (p.Gln921Glu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51765854C>T | CA384888245 | SCN8A | c.2728C>T (p.Gln910Ter) c.575C>T c.732C>T n.2856C>T c.2761C>T (p.Gln921Ter) | |
12 | g.51765855A>C | CA384888252 | SCN8A | c.2729A>C (p.Gln910Pro) c.576A>C c.733A>C n.2857A>C c.2762A>C (p.Gln921Pro) | |
12 | g.51765855A>G | CA384888254 | SCN8A | c.2729A>G (p.Gln910Arg) c.576A>G c.733A>G n.2857A>G c.2762A>G (p.Gln921Arg) | |
12 | g.51765855A>T | CA384888256 | SCN8A | c.2729A>T (p.Gln910Leu) c.576A>T c.733A>T n.2857A>T c.2762A>T (p.Gln921Leu) | |
12 | g.51765856G>A | CA480061451 | SCN8A | c.2730G>A (p.Gln910=) c.577G>A c.734G>A n.2858G>A c.2763G>A (p.Gln921=) | |
12 | g.51765856G>C | CA384888259 | SCN8A | c.2730G>C (p.Gln910His) c.577G>C c.734G>C n.2858G>C c.2763G>C (p.Gln921His) | |
12 | g.51765856G= | CA2036184226 | SCN8A | c.2730G= (p.Gln910=) c.577G= c.734G= n.2858G= c.2763G= (p.Gln921=) | |
12 | g.51765856G>T | CA236317171 | SCN8A | c.2730G>T (p.Gln910His) c.577G>T c.734G>T n.2858G>T c.2763G>T (p.Gln921His) | dbSNP |
12 | g.51765857G>A | CA384888266 | SCN8A | c.2731G>A (p.Asp911Asn) c.578G>A c.735G>A n.2859G>A c.2764G>A (p.Asp922Asn) | |
12 | g.51765857G>C | CA384888271 | SCN8A | c.2731G>C (p.Asp911His) c.578G>C c.735G>C n.2859G>C c.2764G>C (p.Asp922His) | |
12 | g.51765857G>T | CA384888268 | SCN8A | c.2731G>T (p.Asp911Tyr) c.578G>T c.735G>T n.2859G>T c.2764G>T (p.Asp922Tyr) | |
12 | g.51765858A>C | CA384888272 | SCN8A | c.2732A>C (p.Asp911Ala) c.579A>C c.736A>C n.2860A>C c.2765A>C (p.Asp922Ala) | |
12 | g.51765858A>G | CA384888273 | SCN8A | c.2732A>G (p.Asp911Gly) c.579A>G c.736A>G n.2860A>G c.2765A>G (p.Asp922Gly) | |
12 | g.51765858A>T | CA384888275 | SCN8A | c.2732A>T (p.Asp911Val) c.579A>T c.736A>T n.2860A>T c.2765A>T (p.Asp922Val) | |
12 | g.51765859C>A | CA384888277 | SCN8A | c.2733C>A (p.Asp911Glu) c.580C>A c.737C>A n.2861C>A c.2766C>A (p.Asp922Glu) | |
12 | g.51765859C= | CA2036184231 | SCN8A | c.2733C= (p.Asp911=) c.580C= c.737C= n.2861C= c.2766C= (p.Asp922=) | |
12 | g.51765859C>G | CA384888279 | SCN8A | c.2733C>G (p.Asp911Glu) c.580C>G c.737C>G n.2861C>G c.2766C>G (p.Asp922Glu) | |
12 | g.51765859C>T | CA6571507 | SCN8A | c.2733C>T (p.Asp911=) c.580C>T c.737C>T n.2861C>T c.2766C>T (p.Asp922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765860T>A | CA384888290 | SCN8A | c.2734T>A (p.Cys912Ser) c.581T>A c.738T>A n.2862T>A c.2767T>A (p.Cys923Ser) | |
12 | g.51765860T>C | CA384888293 | SCN8A | c.2734T>C (p.Cys912Arg) c.581T>C c.738T>C n.2862T>C c.2767T>C (p.Cys923Arg) | |
12 | g.51765860T>G | CA384888298 | SCN8A | c.2734T>G (p.Cys912Gly) c.581T>G c.738T>G n.2862T>G c.2767T>G (p.Cys923Gly) | ClinVar |
12 | g.51765861G>A | CA384888302 | SCN8A | c.2735G>A (p.Cys912Tyr) c.582G>A c.739G>A n.2863G>A c.2768G>A (p.Cys923Tyr) | |
12 | g.51765861G>C | CA384888306 | SCN8A | c.2735G>C (p.Cys912Ser) c.582G>C c.739G>C n.2863G>C c.2768G>C (p.Cys923Ser) | |
12 | g.51765861G>T | CA384888308 | SCN8A | c.2735G>T (p.Cys912Phe) c.582G>T c.739G>T n.2863G>T c.2768G>T (p.Cys923Phe) | |
12 | g.51765862T>A | CA384888311 | SCN8A | c.2736T>A (p.Cys912Ter) c.583T>A c.740T>A n.2864T>A c.2769T>A (p.Cys923Ter) | dbSNP |
12 | g.51765862T>C | CA480061456 | SCN8A | c.2736T>C (p.Cys912=) c.583T>C c.740T>C n.2864T>C c.2769T>C (p.Cys923=) | |
12 | g.51765862T>G | CA384888312 | SCN8A | c.2736T>G (p.Cys912Trp) c.583T>G c.740T>G n.2864T>G c.2769T>G (p.Cys923Trp) | |
12 | g.51765862T= | CA2036184235 | SCN8A | c.2736T= (p.Cys912=) c.583T= c.740T= n.2864T= c.2769T= (p.Cys923=) | |
12 | g.51765863G>A | CA384888316 | SCN8A | c.2737G>A (p.Glu913Lys) c.584G>A c.741G>A n.2865G>A c.2770G>A (p.Glu924Lys) | COSMIC COSMIC |
12 | g.51765863G>C | CA384888321 | SCN8A | c.2737G>C (p.Glu913Gln) c.584G>C c.741G>C n.2865G>C c.2770G>C (p.Glu924Gln) | |
12 | g.51765863G= | CA2036184238 | SCN8A | c.2737G= (p.Glu913=) c.584G= c.741G= n.2865G= c.2770G= (p.Glu924=) | |
12 | g.51765863G>T | CA384888319 | SCN8A | c.2737G>T (p.Glu913Ter) c.584G>T c.741G>T n.2865G>T c.2770G>T (p.Glu924Ter) | dbSNP |
12 | g.51765864A>C | CA384888333 | SCN8A | c.2738A>C (p.Glu913Ala) c.585A>C c.742A>C n.2866A>C c.2771A>C (p.Glu924Ala) | |
12 | g.51765864A>G | CA384888337 | SCN8A | c.2738A>G (p.Glu913Gly) c.585A>G c.742A>G n.2866A>G c.2771A>G (p.Glu924Gly) | |
12 | g.51765864A>T | CA384888352 | SCN8A | c.2738A>T (p.Glu913Val) c.585A>T c.742A>T n.2866A>T c.2771A>T (p.Glu924Val) | |
12 | g.51765865A>C | CA384888356 | SCN8A | c.2739A>C (p.Glu913Asp) c.586A>C c.743A>C n.2867A>C c.2772A>C (p.Glu924Asp) | |
12 | g.51765865A>G | CA480061459 | SCN8A | c.2739A>G (p.Glu913=) c.586A>G c.743A>G n.2867A>G c.2772A>G (p.Glu924=) | |
12 | g.51765865A>T | CA384888357 | SCN8A | c.2739A>T (p.Glu913Asp) c.586A>T c.743A>T n.2867A>T c.2772A>T (p.Glu924Asp) | |
12 | g.51765866C>A | CA384888359 | SCN8A | c.2740C>A (p.Leu914Ile) c.587C>A c.744C>A n.2868C>A c.2773C>A (p.Leu925Ile) | |
12 | g.51765866C>G | CA384888362 | SCN8A | c.2740C>G (p.Leu914Val) c.587C>G c.744C>G n.2868C>G c.2773C>G (p.Leu925Val) | |
12 | g.51765866C>T | CA384888367 | SCN8A | c.2740C>T (p.Leu914Phe) c.587C>T c.744C>T n.2868C>T c.2773C>T (p.Leu925Phe) | |
12 | g.51765867T>A | CA384888371 | SCN8A | c.2741T>A (p.Leu914His) c.588T>A c.745T>A n.2869T>A c.2774T>A (p.Leu925His) | |
12 | g.51765867T>C | CA384888379 | SCN8A | c.2741T>C (p.Leu914Pro) c.588T>C c.745T>C n.2869T>C c.2774T>C (p.Leu925Pro) | |
12 | g.51765867T>G | CA384888382 | SCN8A | c.2741T>G (p.Leu914Arg) c.588T>G c.745T>G n.2869T>G c.2774T>G (p.Leu925Arg) | |
12 | g.51765868C>A | CA480061465 | SCN8A | c.2742C>A (p.Leu914=) c.589C>A c.746C>A n.2870C>A c.2775C>A (p.Leu925=) | |
12 | g.51765868C>G | CA480061467 | SCN8A | c.2742C>G (p.Leu914=) c.589C>G c.746C>G n.2870C>G c.2775C>G (p.Leu925=) | |
12 | g.51765868C>T | CA480061469 | SCN8A | c.2742C>T (p.Leu914=) c.589C>T c.746C>T n.2870C>T c.2775C>T (p.Leu925=) | COSMIC COSMIC |
12 | g.51765869C>A | CA384888394 | SCN8A | c.2743C>A (p.Pro915Thr) c.590C>A c.747C>A n.2871C>A c.2776C>A (p.Pro926Thr) | |
12 | g.51765869C>G | CA384888391 | SCN8A | c.2743C>G (p.Pro915Ala) c.590C>G c.747C>G n.2871C>G c.2776C>G (p.Pro926Ala) | |
12 | g.51765869C>T | CA384888388 | SCN8A | c.2743C>T (p.Pro915Ser) c.590C>T c.747C>T n.2871C>T c.2776C>T (p.Pro926Ser) | COSMIC COSMIC |
12 | g.51765870C>A | CA384888395 | SCN8A | c.2744C>A (p.Pro915His) c.591C>A c.748C>A n.2872C>A c.2777C>A (p.Pro926His) | |
12 | g.51765870C>G | CA384888397 | SCN8A | c.2744C>G (p.Pro915Arg) c.591C>G c.748C>G n.2872C>G c.2777C>G (p.Pro926Arg) | |
12 | g.51765870C>T | CA384888399 | SCN8A | c.2744C>T (p.Pro915Leu) c.591C>T c.748C>T n.2872C>T c.2777C>T (p.Pro926Leu) | |
12 | g.51765871T>A | CA480061472 | SCN8A | c.2745T>A (p.Pro915=) c.592T>A c.749T>A n.2873T>A c.2778T>A (p.Pro926=) | |
12 | g.51765871T>C | CA480061475 | SCN8A | c.2745T>C (p.Pro915=) c.592T>C c.749T>C n.2873T>C c.2778T>C (p.Pro926=) | |
12 | g.51765871T>G | CA480061474 | SCN8A | c.2745T>G (p.Pro915=) c.592T>G c.749T>G n.2873T>G c.2778T>G (p.Pro926=) | |
12 | g.51765872C>A | CA384888404 | SCN8A | c.2746C>A (p.Arg916Ser) c.593C>A c.750C>A n.2874C>A c.2779C>A (p.Arg927Ser) | |
12 | g.51765872C>G | CA384888406 | SCN8A | c.2746C>G (p.Arg916Gly) c.593C>G c.750C>G n.2874C>G c.2779C>G (p.Arg927Gly) | |
12 | g.51765872C>T | CA384888407 | SCN8A | c.2746C>T (p.Arg916Cys) c.593C>T c.750C>T n.2874C>T c.2779C>T (p.Arg927Cys) | ClinVar gnomAD v4 |
12 | g.51765873G>A | CA384888408 | SCN8A | c.2747G>A (p.Arg916His) c.594G>A c.751G>A n.2875G>A c.2780G>A (p.Arg927His) | |
12 | g.51765873G>C | CA384888410 | SCN8A | c.2747G>C (p.Arg916Pro) c.594G>C c.751G>C n.2875G>C c.2780G>C (p.Arg927Pro) | |
12 | g.51765873G>T | CA384888415 | SCN8A | c.2747G>T (p.Arg916Leu) c.594G>T c.751G>T n.2875G>T c.2780G>T (p.Arg927Leu) | |
12 | g.51765874C>A | CA480061478 | SCN8A | c.2748C>A (p.Arg916=) c.595C>A c.752C>A n.2876C>A c.2781C>A (p.Arg927=) | |
12 | g.51765874C>G | CA480061479 | SCN8A | c.2748C>G (p.Arg916=) c.595C>G c.752C>G n.2876C>G c.2781C>G (p.Arg927=) | |
12 | g.51765874C>T | CA480061480 | SCN8A | c.2748C>T (p.Arg916=) c.595C>T c.752C>T n.2876C>T c.2781C>T (p.Arg927=) | gnomAD v4 |
12 | g.51765875T>A | CA384888424 | SCN8A | c.2749T>A (p.Trp917Arg) c.596T>A c.753T>A n.2877T>A c.2782T>A (p.Trp928Arg) | |
12 | g.51765875T>C | CA384888428 | SCN8A | c.2749T>C (p.Trp917Arg) c.596T>C c.753T>C n.2877T>C c.2782T>C (p.Trp928Arg) | |
12 | g.51765875T>G | CA384888432 | SCN8A | c.2749T>G (p.Trp917Gly) c.596T>G c.753T>G n.2877T>G c.2782T>G (p.Trp928Gly) | |
12 | g.51765876G>A | CA384888437 | SCN8A | c.2750G>A (p.Trp917Ter) c.597G>A c.754G>A n.2878G>A c.2783G>A (p.Trp928Ter) | |
12 | g.51765876G>C | CA384888442 | SCN8A | c.2750G>C (p.Trp917Ser) c.597G>C c.754G>C n.2878G>C c.2783G>C (p.Trp928Ser) | |
12 | g.51765876G>T | CA384888439 | SCN8A | c.2750G>T (p.Trp917Leu) c.597G>T c.754G>T n.2878G>T c.2783G>T (p.Trp928Leu) | |
12 | g.51765877G>A | CA384888446 | SCN8A | c.2751G>A (p.Trp917Ter) c.598G>A c.755G>A n.2879G>A c.2784G>A (p.Trp928Ter) | dbSNP |
12 | g.51765877G>C | CA384888451 | SCN8A | c.2751G>C (p.Trp917Cys) c.598G>C c.755G>C n.2879G>C c.2784G>C (p.Trp928Cys) | |
12 | g.51765877G= | CA2036184241 | SCN8A | c.2751G= (p.Trp917=) c.598G= c.755G= n.2879G= c.2784G= (p.Trp928=) | |
12 | g.51765877G>T | CA384888448 | SCN8A | c.2751G>T (p.Trp917Cys) c.598G>T c.755G>T n.2879G>T c.2784G>T (p.Trp928Cys) | |
12 | g.51765878C>A | CA384888454 | SCN8A | c.2752C>A (p.His918Asn) c.599C>A c.756C>A n.2880C>A c.2785C>A (p.His929Asn) | |
12 | g.51765878C>G | CA384888457 | SCN8A | c.2752C>G (p.His918Asp) c.599C>G c.756C>G n.2880C>G c.2785C>G (p.His929Asp) | |
12 | g.51765878C>T | CA384888460 | SCN8A | c.2752C>T (p.His918Tyr) c.599C>T c.756C>T n.2880C>T c.2785C>T (p.His929Tyr) | |
12 | g.51765879A>C | CA384888461 | SCN8A | c.2753A>C (p.His918Pro) c.600A>C c.757A>C n.2881A>C c.2786A>C (p.His929Pro) | |
12 | g.51765879A>G | CA384888462 | SCN8A | c.2753A>G (p.His918Arg) c.600A>G c.757A>G n.2881A>G c.2786A>G (p.His929Arg) | ClinVar |
12 | g.51765879A>T | CA384888463 | SCN8A | c.2753A>T (p.His918Leu) c.600A>T c.757A>T n.2881A>T c.2786A>T (p.His929Leu) | |
12 | g.51765880T>A | CA384888467 | SCN8A | c.2754T>A (p.His918Gln) c.601T>A c.758T>A n.2882T>A c.2787T>A (p.His929Gln) | |
12 | g.51765880T>C | CA480061485 | SCN8A | c.2754T>C (p.His918=) c.601T>C c.758T>C n.2882T>C c.2787T>C (p.His929=) | |
12 | g.51765880T>G | CA384888473 | SCN8A | c.2754T>G (p.His918Gln) c.601T>G c.758T>G n.2882T>G c.2787T>G (p.His929Gln) | |
12 | g.51765881A>C | CA384888481 | SCN8A | c.2755A>C (p.Met919Leu) c.602A>C c.759A>C n.2883A>C c.2788A>C (p.Met930Leu) | |
12 | g.51765881A>G | CA384888485 | SCN8A | c.2755A>G (p.Met919Val) c.602A>G c.759A>G n.2883A>G c.2788A>G (p.Met930Val) | |
12 | g.51765881A>T | CA384888491 | SCN8A | c.2755A>T (p.Met919Leu) c.602A>T c.759A>T n.2883A>T c.2788A>T (p.Met930Leu) | |
12 | g.51765882T>A | CA384888502 | SCN8A | c.2756T>A (p.Met919Lys) c.603T>A c.760T>A n.2884T>A c.2789T>A (p.Met930Lys) | |
12 | g.51765882T>C | CA384888494 | SCN8A | c.2756T>C (p.Met919Thr) c.603T>C c.760T>C n.2884T>C c.2789T>C (p.Met930Thr) | |
12 | g.51765882T>G | CA384888497 | SCN8A | c.2756T>G (p.Met919Arg) c.603T>G c.760T>G n.2884T>G c.2789T>G (p.Met930Arg) | |
12 | g.51765883G>A | CA384888507 | SCN8A | c.2757G>A (p.Met919Ile) c.604G>A c.761G>A n.2885G>A c.2790G>A (p.Met930Ile) | |
12 | g.51765883G>C | CA384888511 | SCN8A | c.2757G>C (p.Met919Ile) c.604G>C c.761G>C n.2885G>C c.2790G>C (p.Met930Ile) | |
12 | g.51765883G>T | CA384888512 | SCN8A | c.2757G>T (p.Met919Ile) c.604G>T c.761G>T n.2885G>T c.2790G>T (p.Met930Ile) | |
12 | g.51765884C>A | CA384888533 | SCN8A | c.2758C>A (p.His920Asn) c.605C>A c.762C>A n.2886C>A c.2791C>A (p.His931Asn) | |
12 | g.51765884C>G | CA384888538 | SCN8A | c.2758C>G (p.His920Asp) c.605C>G c.762C>G n.2886C>G c.2791C>G (p.His931Asp) | |
12 | g.51765884C>T | CA384888544 | SCN8A | c.2758C>T (p.His920Tyr) c.605C>T c.762C>T n.2886C>T c.2791C>T (p.His931Tyr) | |
12 | g.51765885A>C | CA384888557 | SCN8A | c.2759A>C (p.His920Pro) c.606A>C c.763A>C n.2887A>C c.2792A>C (p.His931Pro) | |
12 | g.51765885A>G | CA384888559 | SCN8A | c.2759A>G (p.His920Arg) c.606A>G c.763A>G n.2887A>G c.2792A>G (p.His931Arg) | |
12 | g.51765885A>T | CA384888560 | SCN8A | c.2759A>T (p.His920Leu) c.606A>T c.763A>T n.2887A>T c.2792A>T (p.His931Leu) | |
12 | g.51765886T>A | CA384888564 | SCN8A | c.2760T>A (p.His920Gln) c.607T>A c.764T>A n.2888T>A c.2793T>A (p.His931Gln) | |
12 | g.51765886T>C | CA480061494 | SCN8A | c.2760T>C (p.His920=) c.607T>C c.764T>C n.2888T>C c.2793T>C (p.His931=) | dbSNP |
12 | g.51765886T>G | CA384888570 | SCN8A | c.2760T>G (p.His920Gln) c.607T>G c.764T>G n.2888T>G c.2793T>G (p.His931Gln) | |
12 | g.51765886T= | CA2036184245 | SCN8A | c.2760T= (p.His920=) c.607T= c.764T= n.2888T= c.2793T= (p.His931=) | |
12 | g.51765887G>A | CA384888579 | SCN8A | c.2761G>A (p.Asp921Asn) c.608G>A c.765G>A n.2889G>A c.2794G>A (p.Asp932Asn) | |
12 | g.51765887G>C | CA384888582 | SCN8A | c.2761G>C (p.Asp921His) c.608G>C c.765G>C n.2889G>C c.2794G>C (p.Asp932His) | |
12 | g.51765887G>T | CA384888575 | SCN8A | c.2761G>T (p.Asp921Tyr) c.608G>T c.765G>T n.2889G>T c.2794G>T (p.Asp932Tyr) | |
12 | g.51765888A>C | CA384888587 | SCN8A | c.2762A>C (p.Asp921Ala) c.609A>C c.766A>C n.2890A>C c.2795A>C (p.Asp932Ala) | |
12 | g.51765888A>G | CA384888588 | SCN8A | c.2762A>G (p.Asp921Gly) c.609A>G c.766A>G n.2890A>G c.2795A>G (p.Asp932Gly) | |
12 | g.51765888A>T | CA384888590 | SCN8A | c.2762A>T (p.Asp921Val) c.609A>T c.766A>T n.2890A>T c.2795A>T (p.Asp932Val) | |
12 | g.51765889C>A | CA384888596 | SCN8A | c.2763C>A (p.Asp921Glu) c.610C>A c.767C>A n.2891C>A c.2796C>A (p.Asp932Glu) | |
12 | g.51765889C= | CA2036184247 | SCN8A | c.2763C= (p.Asp921=) c.610C= c.767C= n.2891C= c.2796C= (p.Asp932=) | |
12 | g.51765889C>G | CA384888599 | SCN8A | c.2763C>G (p.Asp921Glu) c.610C>G c.767C>G n.2891C>G c.2796C>G (p.Asp932Glu) | |
12 | g.51765889C>T | CA480061500 | SCN8A | c.2763C>T (p.Asp921=) c.610C>T c.767C>T n.2891C>T c.2796C>T (p.Asp932=) | dbSNP gnomAD v2 |
12 | g.51765890T>A | CA384888606 | SCN8A | c.2764T>A (p.Phe922Ile) c.611T>A c.768T>A n.2892T>A c.2797T>A (p.Phe933Ile) | |
12 | g.51765890T>C | CA384888609 | SCN8A | c.2764T>C (p.Phe922Leu) c.611T>C c.768T>C n.2892T>C c.2797T>C (p.Phe933Leu) | |
12 | g.51765890T>G | CA384888610 | SCN8A | c.2764T>G (p.Phe922Val) c.611T>G c.768T>G n.2892T>G c.2797T>G (p.Phe933Val) | |
12 | g.51765894dup | CA645574763 | SCN8A | c.2768dup (p.His924ProfsTer16) c.615dup c.772dup n.2896dup c.2801dup (p.His935ProfsTer16) | COSMIC COSMIC |
12 | g.51765891T>A | CA384888611 | SCN8A | c.2765T>A (p.Phe922Tyr) c.612T>A c.769T>A n.2893T>A c.2798T>A (p.Phe933Tyr) | |
12 | g.51765891T>C | CA384888614 | SCN8A | c.2765T>C (p.Phe922Ser) c.612T>C c.769T>C n.2893T>C c.2798T>C (p.Phe933Ser) | |
12 | g.51765891T>G | CA384888616 | SCN8A | c.2765T>G (p.Phe922Cys) c.612T>G c.769T>G n.2893T>G c.2798T>G (p.Phe933Cys) | |
12 | g.51765892T>A | CA384888619 | SCN8A | c.2766T>A (p.Phe922Leu) c.613T>A c.770T>A n.2894T>A c.2799T>A (p.Phe933Leu) | |
12 | g.51765892T>C | CA480061505 | SCN8A | c.2766T>C (p.Phe922=) c.613T>C c.770T>C n.2894T>C c.2799T>C (p.Phe933=) | |
12 | g.51765892T>G | CA384888623 | SCN8A | c.2766T>G (p.Phe922Leu) c.613T>G c.770T>G n.2894T>G c.2799T>G (p.Phe933Leu) | |
12 | g.51765893T>A | CA384888632 | SCN8A | c.2767T>A (p.Phe923Ile) c.614T>A c.771T>A n.2895T>A c.2800T>A (p.Phe934Ile) | |
12 | g.51765893T>C | CA384888629 | SCN8A | c.2767T>C (p.Phe923Leu) c.614T>C c.771T>C n.2895T>C c.2800T>C (p.Phe934Leu) | |
12 | g.51765893T>G | CA384888627 | SCN8A | c.2767T>G (p.Phe923Val) c.614T>G c.771T>G n.2895T>G c.2800T>G (p.Phe934Val) |