| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51762665T>A | CA384884765 | SCN8A | c.2533T>A (p.Ser845Thr) c.380T>A c.537T>A n.2661T>A c.2566T>A (p.Ser856Thr) | |
| 12 | g.51762665T>C | CA16042904 | SCN8A | c.2533T>C (p.Ser845Pro) c.380T>C c.537T>C n.2661T>C c.2566T>C (p.Ser856Pro) | ClinVar dbSNP |
| 12 | g.51762665T>G | CA384884770 | SCN8A | c.2533T>G (p.Ser845Ala) c.380T>G c.537T>G n.2661T>G c.2566T>G (p.Ser856Ala) | |
| 12 | g.51762665T= | CA2036180534 | SCN8A | c.2533T= (p.Ser845=) c.380T= c.537T= n.2661T= c.2566T= (p.Ser856=) | |
| 12 | g.51762666C>A | CA384884777 | SCN8A | c.2534C>A (p.Ser845Tyr) c.381C>A c.538C>A n.2662C>A c.2567C>A (p.Ser856Tyr) | |
| 12 | g.51762666C= | CA2036180544 | SCN8A | c.2534C= (p.Ser845=) c.381C= c.538C= n.2662C= c.2567C= (p.Ser856=) | |
| 12 | g.51762666C>G | CA384884778 | SCN8A | c.2534C>G (p.Ser845Cys) c.381C>G c.538C>G n.2662C>G c.2567C>G (p.Ser856Cys) | ClinVar |
| 12 | g.51762666C>T | CA318256 | SCN8A | c.2534C>T (p.Ser845Phe) c.381C>T c.538C>T n.2662C>T c.2567C>T (p.Ser856Phe) | ClinVar dbSNP |
| 12 | g.51762667T>A | CA479788306 | SCN8A | c.2535T>A (p.Ser845=) c.382T>A c.539T>A n.2663T>A c.2568T>A (p.Ser856=) | |
| 12 | g.51762667T>C | CA479788307 | SCN8A | c.2535T>C (p.Ser845=) c.382T>C c.539T>C n.2663T>C c.2568T>C (p.Ser856=) | |
| 12 | g.51762667T>G | CA479788308 | SCN8A | c.2535T>G (p.Ser845=) c.382T>G c.539T>G n.2663T>G c.2568T>G (p.Ser856=) | |
| 12 | g.51762668T>A | CA384884787 | SCN8A | c.2536T>A (p.Phe846Ile) c.383T>A c.540T>A n.2664T>A c.2569T>A (p.Phe857Ile) | |
| 12 | g.51762668T>C | CA384884790 | SCN8A | c.2536T>C (p.Phe846Leu) c.383T>C c.540T>C n.2664T>C c.2569T>C (p.Phe857Leu) | |
| 12 | g.51762668T>G | CA384884796 | SCN8A | c.2536T>G (p.Phe846Val) c.383T>G c.540T>G n.2664T>G c.2569T>G (p.Phe857Val) | |
| 12 | g.51762669T>A | CA384884809 | SCN8A | c.2537T>A (p.Phe846Tyr) c.384T>A c.541T>A n.2665T>A c.2570T>A (p.Phe857Tyr) | |
| 12 | g.51762669T>C | CA10586291 | SCN8A | c.2537T>C (p.Phe846Ser) c.384T>C c.541T>C n.2665T>C c.2570T>C (p.Phe857Ser) | ClinVar dbSNP |
| 12 | g.51762669T>G | CA384884801 | SCN8A | c.2537T>G (p.Phe846Cys) c.384T>G c.541T>G n.2665T>G c.2570T>G (p.Phe857Cys) | |
| 12 | g.51762669T= | CA2036180548 | SCN8A | c.2537T= (p.Phe846=) c.384T= c.541T= n.2665T= c.2570T= (p.Phe857=) | |
| 12 | g.51762670C>A | CA384884813 | SCN8A | c.2538C>A (p.Phe846Leu) c.385C>A c.542C>A n.2666C>A c.2571C>A (p.Phe857Leu) | |
| 12 | g.51762670C>G | CA384884817 | SCN8A | c.2538C>G (p.Phe846Leu) c.385C>G c.542C>G n.2666C>G c.2571C>G (p.Phe857Leu) | |
| 12 | g.51762670C>T | CA479788309 | SCN8A | c.2538C>T (p.Phe846=) c.385C>T c.542C>T n.2666C>T c.2571C>T (p.Phe857=) | |
| 12 | g.51762671C>A | CA479788310 | SCN8A | c.2539C>A (p.Arg847=) c.386C>A c.543C>A n.2667C>A c.2572C>A (p.Arg858=) | COSMIC COSMIC |
| 12 | g.51762671C= | CA2036180558 | SCN8A | c.2539C= (p.Arg847=) c.386C= c.543C= n.2667C= c.2572C= (p.Arg858=) | |
| 12 | g.51762671C>G | CA384884823 | SCN8A | c.2539C>G (p.Arg847Gly) c.386C>G c.543C>G n.2667C>G c.2572C>G (p.Arg858Gly) | |
| 12 | g.51762671C>T | CA384884826 | SCN8A | c.2539C>T (p.Arg847Ter) c.386C>T c.543C>T n.2667C>T c.2572C>T (p.Arg858Ter) | ClinVar dbSNP |
| 12 | g.51762672G>A | CA384884831 | SCN8A | c.2540G>A (p.Arg847Gln) c.387G>A c.544G>A n.2668G>A c.2573G>A (p.Arg858Gln) | ClinVar |
| 12 | g.51762672G>C | CA384884836 | SCN8A | c.2540G>C (p.Arg847Pro) c.387G>C c.544G>C n.2668G>C c.2573G>C (p.Arg858Pro) | |
| 12 | g.51762672G>T | CA384884839 | SCN8A | c.2540G>T (p.Arg847Leu) c.387G>T c.544G>T n.2668G>T c.2573G>T (p.Arg858Leu) | |
| 12 | g.51762673A= | CA2036180567 | SCN8A | c.2541A= (p.Arg847=) c.388A= c.545A= n.2669A= c.2574A= (p.Arg858=) | |
| 12 | g.51762673A>C | CA479788311 | SCN8A | c.2541A>C (p.Arg847=) c.388A>C c.545A>C n.2669A>C c.2574A>C (p.Arg858=) | |
| 12 | g.51762673A>G | CA479788313 | SCN8A | c.2541A>G (p.Arg847=) c.388A>G c.545A>G n.2669A>G c.2574A>G (p.Arg858=) | |
| 12 | g.51762673A>T | CA479788312 | SCN8A | c.2541A>T (p.Arg847=) c.388A>T c.545A>T n.2669A>T c.2574A>T (p.Arg858=) | |
| 12 | g.51762674T>A | CA384884850 | SCN8A | c.2542T>A (p.Leu848Met) c.389T>A c.546T>A n.2670T>A c.2575T>A (p.Leu859Met) | |
| 12 | g.51762674T>C | CA6571481 | SCN8A | c.2542T>C (p.Leu848=) c.389T>C c.546T>C n.2670T>C c.2575T>C (p.Leu859=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51762674T>G | CA384884847 | SCN8A | c.2542T>G (p.Leu848Val) c.389T>G c.546T>G n.2670T>G c.2575T>G (p.Leu859Val) | |
| 12 | g.51762674T= | CA2036180577 | SCN8A | c.2542T= (p.Leu848=) c.389T= c.546T= n.2670T= c.2575T= (p.Leu859=) | |
| 12 | g.51762706_51762707insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC | CA6571480 | SCN8A | c.2544+30_2544+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC c.391+30_391+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC c.548+30_548+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC n.2672+30_2672+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC c.2577+30_2577+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51762675T>A | CA384884857 | SCN8A | c.2543T>A (p.Leu848Ter) c.390T>A c.547T>A n.2671T>A c.2576T>A (p.Leu859Ter) | dbSNP |
| 12 | g.51762675T>C | CA384884863 | SCN8A | c.2543T>C (p.Leu848Ser) c.390T>C c.547T>C n.2671T>C c.2576T>C (p.Leu859Ser) | |
| 12 | g.51762675T>G | CA10605825 | SCN8A | c.2543T>G (p.Leu848Trp) c.390T>G c.547T>G n.2671T>G c.2576T>G (p.Leu859Trp) | ClinVar dbSNP |
| 12 | g.51762675T= | CA2036180593 | SCN8A | c.2543T= (p.Leu848=) c.390T= c.547T= n.2671T= c.2576T= (p.Leu859=) | |
| 12 | g.51762676G>A | CA479788314 | SCN8A | c.2544G>A (p.Leu848=) c.391G>A c.548G>A n.2672G>A c.2577G>A (p.Leu859=) | |
| 12 | g.51762676G>C | CA384884871 | SCN8A | c.2544G>C (p.Leu848Phe) c.391G>C c.548G>C n.2672G>C c.2577G>C (p.Leu859Phe) | |
| 12 | g.51762676G>T | CA384884874 | SCN8A | c.2544G>T (p.Leu848Phe) c.391G>T c.548G>T n.2672G>T c.2577G>T (p.Leu859Phe) | gnomAD v4 |
| 12 | g.51762677G>A | CA384884878 | SCN8A | c.2544+1G>A (n.2544+1G>A) c.391+1G>A c.548+1G>A n.2672+1G>A c.2577+1G>A (n.2577+1G>A) | |
| 12 | g.51762677G>C | CA384884884 | SCN8A | c.2544+1G>C (n.2544+1G>C) c.391+1G>C c.548+1G>C n.2672+1G>C c.2577+1G>C (n.2577+1G>C) | |
| 12 | g.51762677G>T | CA384884882 | SCN8A | c.2544+1G>T (n.2544+1G>T) c.391+1G>T c.548+1G>T n.2672+1G>T c.2577+1G>T (n.2577+1G>T) | |
| 12 | g.51762678T>A | CA384884892 | SCN8A | c.2544+2T>A (n.2544+2T>A) c.391+2T>A c.548+2T>A n.2672+2T>A c.2577+2T>A (n.2577+2T>A) | |
| 12 | g.51762678T>C | CA384884895 | SCN8A | c.2544+2T>C (n.2544+2T>C) c.391+2T>C c.548+2T>C n.2672+2T>C c.2577+2T>C (n.2577+2T>C) | |
| 12 | g.51762678T>G | CA384884899 | SCN8A | c.2544+2T>G (n.2544+2T>G) c.391+2T>G c.548+2T>G n.2672+2T>G c.2577+2T>G (n.2577+2T>G) |