Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51765669A= | CA2036183850 | SCN8A | c.2545-2A= (n.2545-2A=) c.392-2A= c.549-2A= n.2673-2A= c.2578-2A= (n.2578-2A=) | |
12 | g.51765669A>C | CA384886373 | SCN8A | c.2545-2A>C (n.2545-2A>C) c.392-2A>C c.549-2A>C n.2673-2A>C c.2578-2A>C (n.2578-2A>C) | gnomAD v4 |
12 | g.51765669A>G | CA384886378 | SCN8A | c.2545-2A>G (n.2545-2A>G) c.392-2A>G c.549-2A>G n.2673-2A>G c.2578-2A>G (n.2578-2A>G) | gnomAD v4 |
12 | g.51765669A>T | CA384886386 | SCN8A | c.2545-2A>T (n.2545-2A>T) c.392-2A>T c.549-2A>T n.2673-2A>T c.2578-2A>T (n.2578-2A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765669_51765671del | CA947681525 | SCN8A | c.2545-2_2545del c.392-2_392del c.549-2_549del n.2673-2_2673del c.2578-2_2578del | gnomAD v3 gnomAD v4 |
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.51765670del | CA2618840717 | SCN8A | c.2545-1del (n.2545-1del) c.392-1del c.549-1del n.2673-1del c.2578-1del (n.2578-1del) | gnomAD v4 |
12 | g.51765670G>A | CA384886396 | SCN8A | c.2545-1G>A (n.2545-1G>A) c.392-1G>A c.549-1G>A n.2673-1G>A c.2578-1G>A (n.2578-1G>A) | gnomAD v4 |
12 | g.51765670G>C | CA384886402 | SCN8A | c.2545-1G>C (n.2545-1G>C) c.392-1G>C c.549-1G>C n.2673-1G>C c.2578-1G>C (n.2578-1G>C) | gnomAD v4 |
12 | g.51765670G= | CA2036183853 | SCN8A | c.2545-1G= (n.2545-1G=) c.392-1G= c.549-1G= n.2673-1G= c.2578-1G= (n.2578-1G=) | |
12 | g.51765670G>T | CA384886393 | SCN8A | c.2545-1G>T (n.2545-1G>T) c.392-1G>T c.549-1G>T n.2673-1G>T c.2578-1G>T (n.2578-1G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51765671C>A | CA384886405 | SCN8A | c.2545C>A (p.Leu849Ile) c.392C>A c.549C>A n.2673C>A c.2578C>A (p.Leu860Ile) | gnomAD v4 |
12 | g.51765671C>G | CA384886408 | SCN8A | c.2545C>G (p.Leu849Val) c.392C>G c.549C>G n.2673C>G c.2578C>G (p.Leu860Val) | gnomAD v4 |
12 | g.51765671C>T | CA384886409 | SCN8A | c.2545C>T (p.Leu849Phe) c.392C>T c.549C>T n.2673C>T c.2578C>T (p.Leu860Phe) | gnomAD v3 gnomAD v4 |
12 | g.51765672T>A | CA384886415 | SCN8A | c.2546T>A (p.Leu849His) c.393T>A c.550T>A n.2674T>A c.2579T>A (p.Leu860His) | ClinVar dbSNP |
12 | g.51765672T>C | CA384886420 | SCN8A | c.2546T>C (p.Leu849Pro) c.393T>C c.550T>C n.2674T>C c.2579T>C (p.Leu860Pro) | gnomAD v4 |
12 | g.51765672T>G | CA384886429 | SCN8A | c.2546T>G (p.Leu849Arg) c.393T>G c.550T>G n.2674T>G c.2579T>G (p.Leu860Arg) | |
12 | g.51765672T= | CA2036183857 | SCN8A | c.2546T= (p.Leu849=) c.393T= c.550T= n.2674T= c.2579T= (p.Leu860=) | |
12 | g.51765672_51765673insTTTTT | CA2618840718 | SCN8A | c.2546_2547insTTTTT (p.Arg850PhefsTer14) c.393_394insTTTTT c.550_551insTTTTT n.2674_2675insTTTTT c.2579_2580insTTTTT (p.Arg861PhefsTer14) | gnomAD v4 |
12 | g.51765673C>A | CA480061041 | SCN8A | c.2547C>A (p.Leu849=) c.394C>A c.551C>A n.2675C>A c.2580C>A (p.Leu860=) | gnomAD v4 |
12 | g.51765673C>G | CA480061043 | SCN8A | c.2547C>G (p.Leu849=) c.394C>G c.551C>G n.2675C>G c.2580C>G (p.Leu860=) | gnomAD v4 |
12 | g.51765673C>T | CA480061045 | SCN8A | c.2547C>T (p.Leu849=) c.394C>T c.551C>T n.2675C>T c.2580C>T (p.Leu860=) | ClinVar dbSNP 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 |