Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51765669_51765674del | CA2618840716 | SCN8A | c.2545-2_2548del c.392-2_395del c.549-2_552del n.2673-2_2676del c.2578-2_2581del | gnomAD v4 |
12 | g.51765673_51765675del | CA947681526 | SCN8A | c.2547_2549del (p.Arg850del) c.394_396del c.551_553del n.2675_2677del c.2580_2582del (p.Arg861del) | gnomAD v3 gnomAD v4 |
12 | g.51765674C>A | CA480061046 | SCN8A | c.2548C>A (p.Arg850=) c.395C>A c.552C>A n.2676C>A c.2581C>A (p.Arg861=) | gnomAD v4 |
12 | g.51765674C= | CA2036183863 | SCN8A | c.2548C= (p.Arg850=) c.395C= c.552C= n.2676C= c.2581C= (p.Arg861=) | |
12 | g.51765674C>G | CA384886433 | SCN8A | c.2548C>G (p.Arg850Gly) c.395C>G c.552C>G n.2676C>G c.2581C>G (p.Arg861Gly) | ClinVar dbSNP |
12 | g.51765674C>T | CA384886453 | SCN8A | c.2548C>T (p.Arg850Ter) c.395C>T c.552C>T n.2676C>T c.2581C>T (p.Arg861Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51765675G>A | CA163107 | SCN8A | c.2549G>A (p.Arg850Gln) c.396G>A c.553G>A n.2677G>A c.2582G>A (p.Arg861Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.51765675G>C | CA384886490 | SCN8A | c.2549G>C (p.Arg850Pro) c.396G>C c.553G>C n.2677G>C c.2582G>C (p.Arg861Pro) | gnomAD v4 |
12 | g.51765675G= | CA2036183871 | SCN8A | c.2549G= (p.Arg850=) c.396G= c.553G= n.2677G= c.2582G= (p.Arg861=) | |
12 | g.51765675G>T | CA384886499 | SCN8A | c.2549G>T (p.Arg850Leu) c.396G>T c.553G>T n.2677G>T c.2582G>T (p.Arg861Leu) | gnomAD v3 gnomAD v4 |
12 | g.51765676A= | CA2036183880 | SCN8A | c.2550A= (p.Arg850=) c.397A= c.554A= n.2678A= c.2583A= (p.Arg861=) | |
12 | g.51765676A>C | CA236317086 | SCN8A | c.2550A>C (p.Arg850=) c.397A>C c.554A>C n.2678A>C c.2583A>C (p.Arg861=) | dbSNP gnomAD v4 |
12 | g.51765676A>G | CA480061048 | SCN8A | c.2550A>G (p.Arg850=) c.397A>G c.554A>G n.2678A>G c.2583A>G (p.Arg861=) | gnomAD v4 |
12 | g.51765676A>T | CA480061049 | SCN8A | c.2550A>T (p.Arg850=) c.397A>T c.554A>T n.2678A>T c.2583A>T (p.Arg861=) | gnomAD v3 gnomAD v4 |
12 | g.51765677G>A | CA384886517 | SCN8A | c.2551G>A (p.Val851Ile) c.398G>A c.555G>A n.2679G>A c.2584G>A (p.Val862Ile) | |
12 | g.51765677G>C | CA384886520 | SCN8A | c.2551G>C (p.Val851Leu) c.398G>C c.555G>C n.2679G>C c.2584G>C (p.Val862Leu) | ClinVar |
12 | g.51765677G>T | CA384886511 | SCN8A | c.2551G>T (p.Val851Phe) c.398G>T c.555G>T n.2679G>T c.2584G>T (p.Val862Phe) | gnomAD v4 |
12 | g.51765678T>A | CA384886528 | SCN8A | c.2552T>A (p.Val851Asp) c.399T>A c.556T>A n.2680T>A c.2585T>A (p.Val862Asp) | gnomAD v4 |
12 | g.51765678T>C | CA384886532 | SCN8A | c.2552T>C (p.Val851Ala) c.399T>C c.556T>C n.2680T>C c.2585T>C (p.Val862Ala) | gnomAD v4 |
12 | g.51765678T>G | CA384886537 | SCN8A | c.2552T>G (p.Val851Gly) c.399T>G c.556T>G n.2680T>G c.2585T>G (p.Val862Gly) | gnomAD v4 |
12 | g.51765679C>A | CA480061055 | SCN8A | c.2553C>A (p.Val851=) c.400C>A c.557C>A n.2681C>A c.2586C>A (p.Val862=) | gnomAD v4 |
12 | g.51765679C= | CA2036183882 | SCN8A | c.2553C= (p.Val851=) c.400C= c.557C= n.2681C= c.2586C= (p.Val862=) | |
12 | g.51765679C>G | CA480061053 | SCN8A | c.2553C>G (p.Val851=) c.400C>G c.557C>G n.2681C>G c.2586C>G (p.Val862=) | gnomAD v4 |
12 | g.51765679C>T | CA480061054 | SCN8A | c.2553C>T (p.Val851=) c.400C>T c.557C>T n.2681C>T c.2586C>T (p.Val862=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51765680T>A | CA384886542 | SCN8A | c.2554T>A (p.Phe852Ile) c.401T>A c.558T>A n.2682T>A c.2587T>A (p.Phe863Ile) | |
12 | g.51765680T>C | CA384886563 | SCN8A | c.2554T>C (p.Phe852Leu) c.401T>C c.558T>C n.2682T>C c.2587T>C (p.Phe863Leu) | |
12 | g.51765680T>G | CA384886566 | SCN8A | c.2554T>G (p.Phe852Val) c.401T>G c.558T>G n.2682T>G c.2587T>G (p.Phe863Val) | |
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) |