| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51762501A>C | CA384882769 | SCN8A | c.2371-2A>C (n.2371-2A>C) c.218-2A>C c.375-2A>C n.2499-2A>C c.2404-2A>C (n.2404-2A>C) | |
| 12 | g.51762501A>G | CA384882773 | SCN8A | c.2371-2A>G (n.2371-2A>G) c.218-2A>G c.375-2A>G n.2499-2A>G c.2404-2A>G (n.2404-2A>G) | |
| 12 | g.51762501A>T | CA384882778 | SCN8A | c.2371-2A>T (n.2371-2A>T) c.218-2A>T c.375-2A>T n.2499-2A>T c.2404-2A>T (n.2404-2A>T) | |
| 12 | g.51762502G>A | CA384882798 | SCN8A | c.2371-1G>A (n.2371-1G>A) c.218-1G>A c.375-1G>A n.2499-1G>A c.2404-1G>A (n.2404-1G>A) | |
| 12 | g.51762502G>C | CA384882796 | SCN8A | c.2371-1G>C (n.2371-1G>C) c.218-1G>C c.375-1G>C n.2499-1G>C c.2404-1G>C (n.2404-1G>C) | |
| 12 | g.51762502G>T | CA384882797 | SCN8A | c.2371-1G>T (n.2371-1G>T) c.218-1G>T c.375-1G>T n.2499-1G>T c.2404-1G>T (n.2404-1G>T) | gnomAD v4 |
| 12 | g.51762503G>A | CA384882799 | SCN8A | c.2371G>A (p.Val791Ile) c.218G>A c.375G>A n.2499G>A c.2404G>A (p.Val802Ile) | gnomAD v4 |
| 12 | g.51762503G>C | CA384882801 | SCN8A | c.2371G>C (p.Val791Leu) c.218G>C c.375G>C n.2499G>C c.2404G>C (p.Val802Leu) | |
| 12 | g.51762503G>T | CA384882802 | SCN8A | c.2371G>T (p.Val791Phe) c.218G>T c.375G>T n.2499G>T c.2404G>T (p.Val802Phe) | gnomAD v4 |
| 12 | g.51762504T>A | CA384882806 | SCN8A | c.2372T>A (p.Val791Asp) c.219T>A c.376T>A n.2500T>A c.2405T>A (p.Val802Asp) | |
| 12 | g.51762504T>C | CA384882807 | SCN8A | c.2372T>C (p.Val791Ala) c.219T>C c.376T>C n.2500T>C c.2405T>C (p.Val802Ala) | |
| 12 | g.51762504T>G | CA384882812 | SCN8A | c.2372T>G (p.Val791Gly) c.219T>G c.376T>G n.2500T>G c.2405T>G (p.Val802Gly) | |
| 12 | g.51762505T>A | CA479788205 | SCN8A | c.2373T>A (p.Val791=) c.220T>A c.377T>A n.2501T>A c.2406T>A (p.Val802=) | |
| 12 | g.51762505T>C | CA479788206 | SCN8A | c.2373T>C (p.Val791=) c.220T>C c.377T>C n.2501T>C c.2406T>C (p.Val802=) | gnomAD v4 |
| 12 | g.51762505T>G | CA479788207 | SCN8A | c.2373T>G (p.Val791=) c.220T>G c.377T>G n.2501T>G c.2406T>G (p.Val802=) | |
| 12 | g.51762506T>A | CA384882815 | SCN8A | c.2374T>A (p.Phe792Ile) c.221T>A c.378T>A n.2502T>A c.2407T>A (p.Phe803Ile) | |
| 12 | g.51762506T>C | CA384882822 | SCN8A | c.2374T>C (p.Phe792Leu) c.221T>C c.378T>C n.2502T>C c.2407T>C (p.Phe803Leu) | |
| 12 | g.51762506T>G | CA384882824 | SCN8A | c.2374T>G (p.Phe792Val) c.221T>G c.378T>G n.2502T>G c.2407T>G (p.Phe803Val) | |
| 12 | g.51762507T>A | CA384882826 | SCN8A | c.2375T>A (p.Phe792Tyr) c.222T>A c.379T>A n.2503T>A c.2408T>A (p.Phe803Tyr) | |
| 12 | g.51762507T>C | CA384882831 | SCN8A | c.2375T>C (p.Phe792Ser) c.222T>C c.379T>C n.2503T>C c.2408T>C (p.Phe803Ser) | |
| 12 | g.51762507T>G | CA384882837 | SCN8A | c.2375T>G (p.Phe792Cys) c.222T>G c.379T>G n.2503T>G c.2408T>G (p.Phe803Cys) | |
| 12 | g.51762508C>A | CA384882849 | SCN8A | c.2376C>A (p.Phe792Leu) c.223C>A c.380C>A n.2504C>A c.2409C>A (p.Phe803Leu) | gnomAD v4 |
| 12 | g.51762508C= | CA2036180258 | SCN8A | c.2376C= (p.Phe792=) c.223C= c.380C= n.2504C= c.2409C= (p.Phe803=) | |
| 12 | g.51762508C>G | CA384882851 | SCN8A | c.2376C>G (p.Phe792Leu) c.223C>G c.380C>G n.2504C>G c.2409C>G (p.Phe803Leu) | |
| 12 | g.51762508C>T | CA6571472 | SCN8A | c.2376C>T (p.Phe792=) c.223C>T c.380C>T n.2504C>T c.2409C>T (p.Phe803=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51762509A>C | CA384882854 | SCN8A | c.2377A>C (p.Thr793Pro) c.224A>C c.381A>C n.2505A>C c.2410A>C (p.Thr804Pro) | |
| 12 | g.51762509A>G | CA384882857 | SCN8A | c.2377A>G (p.Thr793Ala) c.224A>G c.381A>G n.2505A>G c.2410A>G (p.Thr804Ala) | |
| 12 | g.51762509A>T | CA384882862 | SCN8A | c.2377A>T (p.Thr793Ser) c.224A>T c.381A>T n.2505A>T c.2410A>T (p.Thr804Ser) | |
| 12 | g.51762510C>A | CA384882867 | SCN8A | c.2378C>A (p.Thr793Asn) c.225C>A c.382C>A n.2506C>A c.2411C>A (p.Thr804Asn) | |
| 12 | g.51762510C>G | CA384882868 | SCN8A | c.2378C>G (p.Thr793Ser) c.225C>G c.382C>G n.2506C>G c.2411C>G (p.Thr804Ser) | |
| 12 | g.51762510C>T | CA384882872 | SCN8A | c.2378C>T (p.Thr793Ile) c.225C>T c.382C>T n.2506C>T c.2411C>T (p.Thr804Ile) | |
| 12 | g.51762511T>A | CA479788208 | SCN8A | c.2379T>A (p.Thr793=) c.226T>A c.383T>A n.2507T>A c.2412T>A (p.Thr804=) | |
| 12 | g.51762511T>C | CA479788209 | SCN8A | c.2379T>C (p.Thr793=) c.226T>C c.383T>C n.2507T>C c.2412T>C (p.Thr804=) | |
| 12 | g.51762511T>G | CA479788210 | SCN8A | c.2379T>G (p.Thr793=) c.226T>G c.383T>G n.2507T>G c.2412T>G (p.Thr804=) | |
| 12 | g.51762512G>A | CA384882896 | SCN8A | c.2380G>A (p.Gly794Arg) c.227G>A c.384G>A n.2508G>A c.2413G>A (p.Gly805Arg) | |
| 12 | g.51762512G>C | CA384882876 | SCN8A | c.2380G>C (p.Gly794Arg) c.227G>C c.384G>C n.2508G>C c.2413G>C (p.Gly805Arg) | |
| 12 | g.51762512G= | CA2036180263 | SCN8A | c.2380G= (p.Gly794=) c.227G= c.384G= n.2508G= c.2413G= (p.Gly805=) | |
| 12 | g.51762512G>T | CA384882890 | SCN8A | c.2380G>T (p.Gly794Ter) c.227G>T c.384G>T n.2508G>T c.2413G>T (p.Gly805Ter) | dbSNP |
| 12 | g.51762513G>A | CA384882901 | SCN8A | c.2381G>A (p.Gly794Glu) c.228G>A c.385G>A n.2509G>A c.2414G>A (p.Gly805Glu) | |
| 12 | g.51762513G>C | CA384882903 | SCN8A | c.2381G>C (p.Gly794Ala) c.228G>C c.385G>C n.2509G>C c.2414G>C (p.Gly805Ala) | |
| 12 | g.51762513G>T | CA384882904 | SCN8A | c.2381G>T (p.Gly794Val) c.228G>T c.385G>T n.2509G>T c.2414G>T (p.Gly805Val) | |
| 12 | g.51762514A>C | CA479788211 | SCN8A | c.2382A>C (p.Gly794=) c.229A>C c.386A>C n.2510A>C c.2415A>C (p.Gly805=) | |
| 12 | g.51762514A>G | CA479788213 | SCN8A | c.2382A>G (p.Gly794=) c.229A>G c.386A>G n.2510A>G c.2415A>G (p.Gly805=) | |
| 12 | g.51762514A>T | CA479788212 | SCN8A | c.2382A>T (p.Gly794=) c.229A>T c.386A>T n.2510A>T c.2415A>T (p.Gly805=) | |
| 12 | g.51762515A>C | CA384882906 | SCN8A | c.2383A>C (p.Ile795Leu) c.230A>C c.387A>C n.2511A>C c.2416A>C (p.Ile806Leu) | |
| 12 | g.51762515A>G | CA384882913 | SCN8A | c.2383A>G (p.Ile795Val) c.230A>G c.387A>G n.2511A>G c.2416A>G (p.Ile806Val) | |
| 12 | g.51762515A>T | CA384882928 | SCN8A | c.2383A>T (p.Ile795Phe) c.230A>T c.387A>T n.2511A>T c.2416A>T (p.Ile806Phe) | |
| 12 | g.51762516T>A | CA384882931 | SCN8A | c.2384T>A (p.Ile795Asn) c.231T>A c.388T>A n.2512T>A c.2417T>A (p.Ile806Asn) | |
| 12 | g.51762516T>C | CA384882941 | SCN8A | c.2384T>C (p.Ile795Thr) c.231T>C c.388T>C n.2512T>C c.2417T>C (p.Ile806Thr) | |
| 12 | g.51762516T>G | CA384882934 | SCN8A | c.2384T>G (p.Ile795Ser) c.231T>G c.388T>G n.2512T>G c.2417T>G (p.Ile806Ser) | |
| 12 | g.51762517T>A | CA479788214 | SCN8A | c.2385T>A (p.Ile795=) c.232T>A c.389T>A n.2513T>A c.2418T>A (p.Ile806=) | |
| 12 | g.51762517T>C | CA479788215 | SCN8A | c.2385T>C (p.Ile795=) c.232T>C c.389T>C n.2513T>C c.2418T>C (p.Ile806=) | |
| 12 | g.51762517T>G | CA384882947 | SCN8A | c.2385T>G (p.Ile795Met) c.232T>G c.389T>G n.2513T>G c.2418T>G (p.Ile806Met) | |
| 12 | g.51762518T>A | CA384882952 | SCN8A | c.2386T>A (p.Phe796Ile) c.233T>A c.390T>A n.2514T>A c.2419T>A (p.Phe807Ile) | |
| 12 | g.51762518T>C | CA384882957 | SCN8A | c.2386T>C (p.Phe796Leu) c.233T>C c.390T>C n.2514T>C c.2419T>C (p.Phe807Leu) | |
| 12 | g.51762518T>G | CA384882958 | SCN8A | c.2386T>G (p.Phe796Val) c.233T>G c.390T>G n.2514T>G c.2419T>G (p.Phe807Val) | |
| 12 | g.51762519T>A | CA384882963 | SCN8A | c.2387T>A (p.Phe796Tyr) c.234T>A c.391T>A n.2515T>A c.2420T>A (p.Phe807Tyr) | |
| 12 | g.51762519T>C | CA384882967 | SCN8A | c.2387T>C (p.Phe796Ser) c.234T>C c.391T>C n.2515T>C c.2420T>C (p.Phe807Ser) | ClinVar dbSNP |
| 12 | g.51762519T>G | CA384882970 | SCN8A | c.2387T>G (p.Phe796Cys) c.234T>G c.391T>G n.2515T>G c.2420T>G (p.Phe807Cys) | |
| 12 | g.51762519T= | CA2036180267 | SCN8A | c.2387T= (p.Phe796=) c.234T= c.391T= n.2515T= c.2420T= (p.Phe807=) | |
| 12 | g.51762520C>A | CA384882981 | SCN8A | c.2388C>A (p.Phe796Leu) c.235C>A c.392C>A n.2516C>A c.2421C>A (p.Phe807Leu) | |
| 12 | g.51762520C>G | CA384882993 | SCN8A | c.2388C>G (p.Phe796Leu) c.235C>G c.392C>G n.2516C>G c.2421C>G (p.Phe807Leu) | |
| 12 | g.51762520C>T | CA479788216 | SCN8A | c.2388C>T (p.Phe796=) c.235C>T c.392C>T n.2516C>T c.2421C>T (p.Phe807=) | |
| 12 | g.51762521A= | CA2036180272 | SCN8A | c.2389A= (p.Thr797=) c.236A= c.393A= n.2517A= c.2422A= (p.Thr808=) | |
| 12 | g.51762521A>C | CA384883005 | SCN8A | c.2389A>C (p.Thr797Pro) c.236A>C c.393A>C n.2517A>C c.2422A>C (p.Thr808Pro) | |
| 12 | g.51762521A>G | CA384883009 | SCN8A | c.2389A>G (p.Thr797Ala) c.236A>G c.393A>G n.2517A>G c.2422A>G (p.Thr808Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51762521A>T | CA384883017 | SCN8A | c.2389A>T (p.Thr797Ser) c.236A>T c.393A>T n.2517A>T c.2422A>T (p.Thr808Ser) | |
| 12 | g.51762522C>A | CA384883033 | SCN8A | c.2390C>A (p.Thr797Lys) c.237C>A c.394C>A n.2518C>A c.2423C>A (p.Thr808Lys) | |
| 12 | g.51762522C>G | CA384883060 | SCN8A | c.2390C>G (p.Thr797Arg) c.237C>G c.394C>G n.2518C>G c.2423C>G (p.Thr808Arg) | |
| 12 | g.51762522C>T | CA384883038 | SCN8A | c.2390C>T (p.Thr797Ile) c.237C>T c.394C>T n.2518C>T c.2423C>T (p.Thr808Ile) | gnomAD v4 |
| 12 | g.51762523A>C | CA479788217 | SCN8A | c.2391A>C (p.Thr797=) c.238A>C c.395A>C n.2519A>C c.2424A>C (p.Thr808=) | |
| 12 | g.51762523A>G | CA479788218 | SCN8A | c.2391A>G (p.Thr797=) c.238A>G c.395A>G n.2519A>G c.2424A>G (p.Thr808=) | |
| 12 | g.51762523A>T | CA479788219 | SCN8A | c.2391A>T (p.Thr797=) c.238A>T c.395A>T n.2519A>T c.2424A>T (p.Thr808=) | |
| 12 | g.51762524G>A | CA384883066 | SCN8A | c.2392G>A (p.Ala798Thr) c.239G>A c.396G>A n.2520G>A c.2425G>A (p.Ala809Thr) | |
| 12 | g.51762524G>C | CA384883088 | SCN8A | c.2392G>C (p.Ala798Pro) c.239G>C c.396G>C n.2520G>C c.2425G>C (p.Ala809Pro) | |
| 12 | g.51762524G>T | CA384883091 | SCN8A | c.2392G>T (p.Ala798Ser) c.239G>T c.396G>T n.2520G>T c.2425G>T (p.Ala809Ser) | |
| 12 | g.51762525C>A | CA384883102 | SCN8A | c.2393C>A (p.Ala798Glu) c.240C>A c.397C>A n.2521C>A c.2426C>A (p.Ala809Glu) | |
| 12 | g.51762525C= | CA2036180275 | SCN8A | c.2393C= (p.Ala798=) c.240C= c.397C= n.2521C= c.2426C= (p.Ala809=) | |
| 12 | g.51762525C>G | CA384883105 | SCN8A | c.2393C>G (p.Ala798Gly) c.240C>G c.397C>G n.2521C>G c.2426C>G (p.Ala809Gly) | COSMIC COSMIC |
| 12 | g.51762525C>T | CA384883106 | SCN8A | c.2393C>T (p.Ala798Val) c.240C>T c.397C>T n.2521C>T c.2426C>T (p.Ala809Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51762526G>A | CA6571473 | SCN8A | c.2394G>A (p.Ala798=) c.241G>A c.398G>A n.2522G>A c.2427G>A (p.Ala809=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51762526G>C | CA479788220 | SCN8A | c.2394G>C (p.Ala798=) c.241G>C c.398G>C n.2522G>C c.2427G>C (p.Ala809=) | |
| 12 | g.51762526G= | CA2036180279 | SCN8A | c.2394G= (p.Ala798=) c.241G= c.398G= n.2522G= c.2427G= (p.Ala809=) | |
| 12 | g.51762526G>T | CA479788221 | SCN8A | c.2394G>T (p.Ala798=) c.241G>T c.398G>T n.2522G>T c.2427G>T (p.Ala809=) | |
| 12 | g.51762527G>A | CA384883121 | SCN8A | c.2395G>A (p.Glu799Lys) c.242G>A c.399G>A n.2523G>A c.2428G>A (p.Glu810Lys) | |
| 12 | g.51762527G>C | CA384883124 | SCN8A | c.2395G>C (p.Glu799Gln) c.242G>C c.399G>C n.2523G>C c.2428G>C (p.Glu810Gln) | |
| 12 | g.51762527G= | CA2036180286 | SCN8A | c.2395G= (p.Glu799=) c.242G= c.399G= n.2523G= c.2428G= (p.Glu810=) | |
| 12 | g.51762527G>T | CA384883129 | SCN8A | c.2395G>T (p.Glu799Ter) c.242G>T c.399G>T n.2523G>T c.2428G>T (p.Glu810Ter) | dbSNP COSMIC COSMIC |
| 12 | g.51762528A>C | CA384883149 | SCN8A | c.2396A>C (p.Glu799Ala) c.243A>C c.400A>C n.2524A>C c.2429A>C (p.Glu810Ala) | |
| 12 | g.51762528A>G | CA384883155 | SCN8A | c.2396A>G (p.Glu799Gly) c.243A>G c.400A>G n.2524A>G c.2429A>G (p.Glu810Gly) | |
| 12 | g.51762528A>T | CA384883158 | SCN8A | c.2396A>T (p.Glu799Val) c.243A>T c.400A>T n.2524A>T c.2429A>T (p.Glu810Val) | |
| 12 | g.51762529A= | CA2036180288 | SCN8A | c.2397A= (p.Glu799=) c.244A= c.401A= n.2525A= c.2430A= (p.Glu810=) | |
| 12 | g.51762529A>C | CA384883168 | SCN8A | c.2397A>C (p.Glu799Asp) c.244A>C c.401A>C n.2525A>C c.2430A>C (p.Glu810Asp) | |
| 12 | g.51762529A>G | CA479788222 | SCN8A | c.2397A>G (p.Glu799=) c.244A>G c.401A>G n.2525A>G c.2430A>G (p.Glu810=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51762529A>T | CA384883167 | SCN8A | c.2397A>T (p.Glu799Asp) c.244A>T c.401A>T n.2525A>T c.2430A>T (p.Glu810Asp) | |
| 12 | g.51762530A= | CA2036180291 | SCN8A | c.2398A= (p.Met800=) c.245A= c.402A= n.2526A= c.2431A= (p.Met811=) | |
| 12 | g.51762530A>C | CA384883174 | SCN8A | c.2398A>C (p.Met800Leu) c.245A>C c.402A>C n.2526A>C c.2431A>C (p.Met811Leu) | |
| 12 | g.51762530A>G | CA6571474 | SCN8A | c.2398A>G (p.Met800Val) c.245A>G c.402A>G n.2526A>G c.2431A>G (p.Met811Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51762530A>T | CA384883184 | SCN8A | c.2398A>T (p.Met800Leu) c.245A>T c.402A>T n.2526A>T c.2431A>T (p.Met811Leu) | |
| 12 | g.51762531T>A | CA384883195 | SCN8A | c.2399T>A (p.Met800Lys) c.246T>A c.403T>A n.2527T>A c.2432T>A (p.Met811Lys) | |
| 12 | g.51762531T>C | CA384883197 | SCN8A | c.2399T>C (p.Met800Thr) c.246T>C c.403T>C n.2527T>C c.2432T>C (p.Met811Thr) | |
| 12 | g.51762531T>G | CA384883199 | SCN8A | c.2399T>G (p.Met800Arg) c.246T>G c.403T>G n.2527T>G c.2432T>G (p.Met811Arg) | |
| 12 | g.51762532G>A | CA384883205 | SCN8A | c.2400G>A (p.Met800Ile) c.247G>A c.404G>A n.2528G>A c.2433G>A (p.Met811Ile) | |
| 12 | g.51762532G>C | CA384883214 | SCN8A | c.2400G>C (p.Met800Ile) c.247G>C c.404G>C n.2528G>C c.2433G>C (p.Met811Ile) | |
| 12 | g.51762532G>T | CA384883218 | SCN8A | c.2400G>T (p.Met800Ile) c.247G>T c.404G>T n.2528G>T c.2433G>T (p.Met811Ile) | |
| 12 | g.51762533T>A | CA384883231 | SCN8A | c.2401T>A (p.Phe801Ile) c.248T>A c.405T>A n.2529T>A c.2434T>A (p.Phe812Ile) | |
| 12 | g.51762533T>C | CA384883236 | SCN8A | c.2401T>C (p.Phe801Leu) c.248T>C c.405T>C n.2529T>C c.2434T>C (p.Phe812Leu) | |
| 12 | g.51762533T>G | CA384883237 | SCN8A | c.2401T>G (p.Phe801Val) c.248T>G c.405T>G n.2529T>G c.2434T>G (p.Phe812Val) | |
| 12 | g.51762534T>A | CA384883243 | SCN8A | c.2402T>A (p.Phe801Tyr) c.249T>A c.406T>A n.2530T>A c.2435T>A (p.Phe812Tyr) | |
| 12 | g.51762534T>C | CA384883240 | SCN8A | c.2402T>C (p.Phe801Ser) c.249T>C c.406T>C n.2530T>C c.2435T>C (p.Phe812Ser) | |
| 12 | g.51762534T>G | CA384883238 | SCN8A | c.2402T>G (p.Phe801Cys) c.249T>G c.406T>G n.2530T>G c.2435T>G (p.Phe812Cys) | |
| 12 | g.51762535C>A | CA384883247 | SCN8A | c.2403C>A (p.Phe801Leu) c.250C>A c.407C>A n.2531C>A c.2436C>A (p.Phe812Leu) | |
| 12 | g.51762535C= | CA2036180292 | SCN8A | c.2403C= (p.Phe801=) c.250C= c.407C= n.2531C= c.2436C= (p.Phe812=) | |
| 12 | g.51762535C>G | CA6571475 | SCN8A | c.2403C>G (p.Phe801Leu) c.250C>G c.407C>G n.2531C>G c.2436C>G (p.Phe812Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51762535C>T | CA479788223 | SCN8A | c.2403C>T (p.Phe801=) c.250C>T c.407C>T n.2531C>T c.2436C>T (p.Phe812=) | |
| 12 | g.51762536C>A | CA384883253 | SCN8A | c.2404C>A (p.Leu802Met) c.251C>A c.408C>A n.2532C>A c.2437C>A (p.Leu813Met) | |
| 12 | g.51762536C= | CA2036180294 | SCN8A | c.2404C= (p.Leu802=) c.251C= c.408C= n.2532C= c.2437C= (p.Leu813=) | |
| 12 | g.51762536C>G | CA384883255 | SCN8A | c.2404C>G (p.Leu802Val) c.251C>G c.408C>G n.2532C>G c.2437C>G (p.Leu813Val) | |
| 12 | g.51762536C>T | CA479788224 | SCN8A | c.2404C>T (p.Leu802=) c.251C>T c.408C>T n.2532C>T c.2437C>T (p.Leu813=) | dbSNP |
| 12 | g.51762537T>A | CA384883266 | SCN8A | c.2405T>A (p.Leu802Gln) c.252T>A c.409T>A n.2533T>A c.2438T>A (p.Leu813Gln) | |
| 12 | g.51762537T>C | CA384883274 | SCN8A | c.2405T>C (p.Leu802Pro) c.252T>C c.409T>C n.2533T>C c.2438T>C (p.Leu813Pro) | |
| 12 | g.51762537T>G | CA384883278 | SCN8A | c.2405T>G (p.Leu802Arg) c.252T>G c.409T>G n.2533T>G c.2438T>G (p.Leu813Arg) | |
| 12 | g.51762538G>A | CA479788225 | SCN8A | c.2406G>A (p.Leu802=) c.253G>A c.410G>A n.2534G>A c.2439G>A (p.Leu813=) | |
| 12 | g.51762538G>C | CA479788226 | SCN8A | c.2406G>C (p.Leu802=) c.253G>C c.410G>C n.2534G>C c.2439G>C (p.Leu813=) | |
| 12 | g.51762538G>T | CA479788227 | SCN8A | c.2406G>T (p.Leu802=) c.253G>T c.410G>T n.2534G>T c.2439G>T (p.Leu813=) | |
| 12 | g.51762539A= | CA2036180298 | SCN8A | c.2407A= (p.Lys803=) c.254A= c.411A= n.2535A= c.2440A= (p.Lys814=) | |
| 12 | g.51762539A>C | CA384883284 | SCN8A | c.2407A>C (p.Lys803Gln) c.254A>C c.411A>C n.2535A>C c.2440A>C (p.Lys814Gln) | |
| 12 | g.51762539A>G | CA384883289 | SCN8A | c.2407A>G (p.Lys803Glu) c.254A>G c.411A>G n.2535A>G c.2440A>G (p.Lys814Glu) | |
| 12 | g.51762539A>T | CA384883299 | SCN8A | c.2407A>T (p.Lys803Ter) c.254A>T c.411A>T n.2535A>T c.2440A>T (p.Lys814Ter) | dbSNP |
| 12 | g.51762540A>C | CA384883304 | SCN8A | c.2408A>C (p.Lys803Thr) c.255A>C c.412A>C n.2536A>C c.2441A>C (p.Lys814Thr) | |
| 12 | g.51762540A>G | CA384883305 | SCN8A | c.2408A>G (p.Lys803Arg) c.255A>G c.412A>G n.2536A>G c.2441A>G (p.Lys814Arg) | ClinVar dbSNP |
| 12 | g.51762540A>T | CA384883307 | SCN8A | c.2408A>T (p.Lys803Met) c.255A>T c.412A>T n.2536A>T c.2441A>T (p.Lys814Met) | |
| 12 | g.51762541G>A | CA479788228 | SCN8A | c.2409G>A (p.Lys803=) c.256G>A c.413G>A n.2537G>A c.2442G>A (p.Lys814=) | |
| 12 | g.51762541G>C | CA384883314 | SCN8A | c.2409G>C (p.Lys803Asn) c.256G>C c.413G>C n.2537G>C c.2442G>C (p.Lys814Asn) | |
| 12 | g.51762541G>T | CA384883331 | SCN8A | c.2409G>T (p.Lys803Asn) c.256G>T c.413G>T n.2537G>T c.2442G>T (p.Lys814Asn) | |
| 12 | g.51762542C>A | CA384883341 | SCN8A | c.2410C>A (p.Leu804Ile) c.257C>A c.414C>A n.2538C>A c.2443C>A (p.Leu815Ile) | |
| 12 | g.51762542C>G | CA384883340 | SCN8A | c.2410C>G (p.Leu804Val) c.257C>G c.414C>G n.2538C>G c.2443C>G (p.Leu815Val) | |
| 12 | g.51762542C>T | CA384883339 | SCN8A | c.2410C>T (p.Leu804Phe) c.257C>T c.414C>T n.2538C>T c.2443C>T (p.Leu815Phe) | |
| 12 | g.51762543T>A | CA384883343 | SCN8A | c.2411T>A (p.Leu804His) c.258T>A c.415T>A n.2539T>A c.2444T>A (p.Leu815His) | |
| 12 | g.51762543T>C | CA384883348 | SCN8A | c.2411T>C (p.Leu804Pro) c.258T>C c.415T>C n.2539T>C c.2444T>C (p.Leu815Pro) | |
| 12 | g.51762543T>G | CA384883353 | SCN8A | c.2411T>G (p.Leu804Arg) c.258T>G c.415T>G n.2539T>G c.2444T>G (p.Leu815Arg) | |
| 12 | g.51762544C>A | CA479788231 | SCN8A | c.2412C>A (p.Leu804=) c.259C>A c.416C>A n.2540C>A c.2445C>A (p.Leu815=) | |
| 12 | g.51762544C>G | CA479788230 | SCN8A | c.2412C>G (p.Leu804=) c.259C>G c.416C>G n.2540C>G c.2445C>G (p.Leu815=) | |
| 12 | g.51762544C>T | CA479788229 | SCN8A | c.2412C>T (p.Leu804=) c.259C>T c.416C>T n.2540C>T c.2445C>T (p.Leu815=) | |
| 12 | g.51762545A= | CA2036180302 | SCN8A | c.2413A= (p.Ile805=) c.260A= c.417A= n.2541A= c.2446A= (p.Ile816=) | |
| 12 | g.51762545A>C | CA384883357 | SCN8A | c.2413A>C (p.Ile805Leu) c.260A>C c.417A>C n.2541A>C c.2446A>C (p.Ile816Leu) | |
| 12 | g.51762545A>G | CA384883362 | SCN8A | c.2413A>G (p.Ile805Val) c.260A>G c.417A>G n.2541A>G c.2446A>G (p.Ile816Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51762545A>T | CA384883364 | SCN8A | c.2413A>T (p.Ile805Leu) c.260A>T c.417A>T n.2541A>T c.2446A>T (p.Ile816Leu) | |
| 12 | g.51762546T>A | CA384883368 | SCN8A | c.2414T>A (p.Ile805Lys) c.261T>A c.418T>A n.2542T>A c.2447T>A (p.Ile816Lys) | |
| 12 | g.51762546T>C | CA384883371 | SCN8A | c.2414T>C (p.Ile805Thr) c.261T>C c.418T>C n.2542T>C c.2447T>C (p.Ile816Thr) | |
| 12 | g.51762546T>G | CA384883384 | SCN8A | c.2414T>G (p.Ile805Arg) c.261T>G c.418T>G n.2542T>G c.2447T>G (p.Ile816Arg) | |
| 12 | g.51762547A= | CA2036180307 | SCN8A | c.2415A= (p.Ile805=) c.262A= c.419A= n.2543A= c.2448A= (p.Ile816=) | |
| 12 | g.51762547A>C | CA479788232 | SCN8A | c.2415A>C (p.Ile805=) c.262A>C c.419A>C n.2543A>C c.2448A>C (p.Ile816=) | |
| 12 | g.51762547A>G | CA384883394 | SCN8A | c.2415A>G (p.Ile805Met) c.262A>G c.419A>G n.2543A>G c.2448A>G (p.Ile816Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51762547A>T | CA479788233 | SCN8A | c.2415A>T (p.Ile805=) c.262A>T c.419A>T n.2543A>T c.2448A>T (p.Ile816=) | COSMIC COSMIC |
| 12 | g.51762548G>A | CA384883395 | SCN8A | c.2416G>A (p.Ala806Thr) c.263G>A c.420G>A n.2544G>A c.2449G>A (p.Ala817Thr) | gnomAD v4 |
| 12 | g.51762548G>C | CA384883396 | SCN8A | c.2416G>C (p.Ala806Pro) c.263G>C c.420G>C n.2544G>C c.2449G>C (p.Ala817Pro) | |
| 12 | g.51762548G>T | CA384883400 | SCN8A | c.2416G>T (p.Ala806Ser) c.263G>T c.420G>T n.2544G>T c.2449G>T (p.Ala817Ser) | |
| 12 | g.51762549C>A | CA384883419 | SCN8A | c.2417C>A (p.Ala806Asp) c.264C>A c.421C>A n.2545C>A c.2450C>A (p.Ala817Asp) | |
| 12 | g.51762549C>G | CA384883422 | SCN8A | c.2417C>G (p.Ala806Gly) c.264C>G c.421C>G n.2545C>G c.2450C>G (p.Ala817Gly) | |
| 12 | g.51762549C>T | CA384883410 | SCN8A | c.2417C>T (p.Ala806Val) c.264C>T c.421C>T n.2545C>T c.2450C>T (p.Ala817Val) | ClinVar COSMIC COSMIC |
| 12 | g.51762550C>A | CA479788234 | SCN8A | c.2418C>A (p.Ala806=) c.265C>A c.422C>A n.2546C>A c.2451C>A (p.Ala817=) | |
| 12 | g.51762550C>G | CA479788235 | SCN8A | c.2418C>G (p.Ala806=) c.265C>G c.422C>G n.2546C>G c.2451C>G (p.Ala817=) | |
| 12 | g.51762550C>T | CA479788236 | SCN8A | c.2418C>T (p.Ala806=) c.265C>T c.422C>T n.2546C>T c.2451C>T (p.Ala817=) | gnomAD v4 |
| 12 | g.51762551A>C | CA384883429 | SCN8A | c.2419A>C (p.Met807Leu) c.266A>C c.423A>C n.2547A>C c.2452A>C (p.Met818Leu) | |
| 12 | g.51762551A>G | CA384883431 | SCN8A | c.2419A>G (p.Met807Val) c.266A>G c.423A>G n.2547A>G c.2452A>G (p.Met818Val) | |
| 12 | g.51762551A>T | CA384883433 | SCN8A | c.2419A>T (p.Met807Leu) c.266A>T c.423A>T n.2547A>T c.2452A>T (p.Met818Leu) | |
| 12 | g.51762552T>A | CA384883438 | SCN8A | c.2420T>A (p.Met807Lys) c.267T>A c.424T>A n.2548T>A c.2453T>A (p.Met818Lys) | |
| 12 | g.51762552T>C | CA384883445 | SCN8A | c.2420T>C (p.Met807Thr) c.267T>C c.424T>C n.2548T>C c.2453T>C (p.Met818Thr) | |
| 12 | g.51762552T>G | CA384883449 | SCN8A | c.2420T>G (p.Met807Arg) c.267T>G c.424T>G n.2548T>G c.2453T>G (p.Met818Arg) | |
| 12 | g.51762553G>A | CA384883453 | SCN8A | c.2421G>A (p.Met807Ile) c.268G>A c.425G>A n.2549G>A c.2454G>A (p.Met818Ile) | gnomAD v4 |
| 12 | g.51762553G>C | CA384883459 | SCN8A | c.2421G>C (p.Met807Ile) c.268G>C c.425G>C n.2549G>C c.2454G>C (p.Met818Ile) | |
| 12 | g.51762553G>T | CA384883463 | SCN8A | c.2421G>T (p.Met807Ile) c.268G>T c.425G>T n.2549G>T c.2454G>T (p.Met818Ile) | |
| 12 | g.51762554G>A | CA384883479 | SCN8A | c.2422G>A (p.Asp808Asn) c.269G>A c.426G>A n.2550G>A c.2455G>A (p.Asp819Asn) | |
| 12 | g.51762554G>C | CA384883482 | SCN8A | c.2422G>C (p.Asp808His) c.269G>C c.426G>C n.2550G>C c.2455G>C (p.Asp819His) | |
| 12 | g.51762554G>T | CA384883485 | SCN8A | c.2422G>T (p.Asp808Tyr) c.269G>T c.426G>T n.2550G>T c.2455G>T (p.Asp819Tyr) | |
| 12 | g.51762555A>C | CA384883498 | SCN8A | c.2423A>C (p.Asp808Ala) c.270A>C c.427A>C n.2551A>C c.2456A>C (p.Asp819Ala) | |
| 12 | g.51762555A>G | CA384883487 | SCN8A | c.2423A>G (p.Asp808Gly) c.270A>G c.427A>G n.2551A>G c.2456A>G (p.Asp819Gly) | COSMIC COSMIC |
| 12 | g.51762555A>T | CA384883492 | SCN8A | c.2423A>T (p.Asp808Val) c.270A>T c.427A>T n.2551A>T c.2456A>T (p.Asp819Val) | |
| 12 | g.51762556T>A | CA384883505 | SCN8A | c.2424T>A (p.Asp808Glu) c.271T>A c.428T>A n.2552T>A c.2457T>A (p.Asp819Glu) | |
| 12 | g.51762556T>C | CA479788237 | SCN8A | c.2424T>C (p.Asp808=) c.271T>C c.428T>C n.2552T>C c.2457T>C (p.Asp819=) | |
| 12 | g.51762556T>G | CA384883506 | SCN8A | c.2424T>G (p.Asp808Glu) c.271T>G c.428T>G n.2552T>G c.2457T>G (p.Asp819Glu) | |
| 12 | g.51762557C>A | CA384883507 | SCN8A | c.2425C>A (p.Pro809Thr) c.272C>A c.429C>A n.2553C>A c.2458C>A (p.Pro820Thr) | |
| 12 | g.51762557C>G | CA384883510 | SCN8A | c.2425C>G (p.Pro809Ala) c.272C>G c.429C>G n.2553C>G c.2458C>G (p.Pro820Ala) | |
| 12 | g.51762557C>T | CA384883514 | SCN8A | c.2425C>T (p.Pro809Ser) c.272C>T c.429C>T n.2553C>T c.2458C>T (p.Pro820Ser) | COSMIC COSMIC |
| 12 | g.51762558C>A | CA384883520 | SCN8A | c.2426C>A (p.Pro809His) c.273C>A c.430C>A n.2554C>A c.2459C>A (p.Pro820His) | |
| 12 | g.51762558C>G | CA384883525 | SCN8A | c.2426C>G (p.Pro809Arg) c.273C>G c.430C>G n.2554C>G c.2459C>G (p.Pro820Arg) | |
| 12 | g.51762558C>T | CA384883526 | SCN8A | c.2426C>T (p.Pro809Leu) c.273C>T c.430C>T n.2554C>T c.2459C>T (p.Pro820Leu) | COSMIC COSMIC |
| 12 | g.51762559C>A | CA479788238 | SCN8A | c.2427C>A (p.Pro809=) c.274C>A c.431C>A n.2555C>A c.2460C>A (p.Pro820=) | |
| 12 | g.51762559C>G | CA479788239 | SCN8A | c.2427C>G (p.Pro809=) c.274C>G c.431C>G n.2555C>G c.2460C>G (p.Pro820=) | |
| 12 | g.51762559C>T | CA479788240 | SCN8A | c.2427C>T (p.Pro809=) c.274C>T c.431C>T n.2555C>T c.2460C>T (p.Pro820=) | |
| 12 | g.51762560T>A | CA384883533 | SCN8A | c.2428T>A (p.Tyr810Asn) c.275T>A c.432T>A n.2556T>A c.2461T>A (p.Tyr821Asn) | |
| 12 | g.51762560T>C | CA6571476 | SCN8A | c.2428T>C (p.Tyr810His) c.275T>C c.432T>C n.2556T>C c.2461T>C (p.Tyr821His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51762560T>G | CA384883561 | SCN8A | c.2428T>G (p.Tyr810Asp) c.275T>G c.432T>G n.2556T>G c.2461T>G (p.Tyr821Asp) | |
| 12 | g.51762560T= | CA2036180313 | SCN8A | c.2428T= (p.Tyr810=) c.275T= c.432T= n.2556T= c.2461T= (p.Tyr821=) | |
| 12 | g.51762561A= | CA2036180317 | SCN8A | c.2429A= (p.Tyr810=) c.276A= c.433A= n.2557A= c.2462A= (p.Tyr821=) | |
| 12 | g.51762561A>C | CA384883584 | SCN8A | c.2429A>C (p.Tyr810Ser) c.276A>C c.433A>C n.2557A>C c.2462A>C (p.Tyr821Ser) | |
| 12 | g.51762561A>G | CA384883585 | SCN8A | c.2429A>G (p.Tyr810Cys) c.276A>G c.433A>G n.2557A>G c.2462A>G (p.Tyr821Cys) | dbSNP |
| 12 | g.51762561A>T | CA384883582 | SCN8A | c.2429A>T (p.Tyr810Phe) c.276A>T c.433A>T n.2557A>T c.2462A>T (p.Tyr821Phe) | |
| 12 | g.51762562C>A | CA384883596 | SCN8A | c.2430C>A (p.Tyr810Ter) c.277C>A c.434C>A n.2558C>A c.2463C>A (p.Tyr821Ter) | |
| 12 | g.51762562C>G | CA384883589 | SCN8A | c.2430C>G (p.Tyr810Ter) c.277C>G c.434C>G n.2558C>G c.2463C>G (p.Tyr821Ter) | |
| 12 | g.51762562C>T | CA479788241 | SCN8A | c.2430C>T (p.Tyr810=) c.277C>T c.434C>T n.2558C>T c.2463C>T (p.Tyr821=) | |
| 12 | g.51762563T>A | CA384883598 | SCN8A | c.2431T>A (p.Tyr811Asn) c.278T>A c.435T>A n.2559T>A c.2464T>A (p.Tyr822Asn) | |
| 12 | g.51762563T>C | CA384883604 | SCN8A | c.2431T>C (p.Tyr811His) c.278T>C c.435T>C n.2559T>C c.2464T>C (p.Tyr822His) | |
| 12 | g.51762563T>G | CA384883614 | SCN8A | c.2431T>G (p.Tyr811Asp) c.278T>G c.435T>G n.2559T>G c.2464T>G (p.Tyr822Asp) | |
| 12 | g.51762564A= | CA2036180319 | SCN8A | c.2432A= (p.Tyr811=) c.279A= c.436A= n.2560A= c.2465A= (p.Tyr822=) | |
| 12 | g.51762564A>C | CA384883621 | SCN8A | c.2432A>C (p.Tyr811Ser) c.279A>C c.436A>C n.2560A>C c.2465A>C (p.Tyr822Ser) | |
| 12 | g.51762564A>G | CA10633090 | SCN8A | c.2432A>G (p.Tyr811Cys) c.279A>G c.436A>G n.2560A>G c.2465A>G (p.Tyr822Cys) | ClinVar dbSNP |
| 12 | g.51762564A>T | CA384883625 | SCN8A | c.2432A>T (p.Tyr811Phe) c.279A>T c.436A>T n.2560A>T c.2465A>T (p.Tyr822Phe) | |
| 12 | g.51762565T>A | CA384883629 | SCN8A | c.2433T>A (p.Tyr811Ter) c.280T>A c.437T>A n.2561T>A c.2466T>A (p.Tyr822Ter) | |
| 12 | g.51762565T>C | CA479788242 | SCN8A | c.2433T>C (p.Tyr811=) c.280T>C c.437T>C n.2561T>C c.2466T>C (p.Tyr822=) | |
| 12 | g.51762565T>G | CA384883634 | SCN8A | c.2433T>G (p.Tyr811Ter) c.280T>G c.437T>G n.2561T>G c.2466T>G (p.Tyr822Ter) | |
| 12 | g.51762566T>A | CA384883636 | SCN8A | c.2434T>A (p.Tyr812Asn) c.281T>A c.438T>A n.2562T>A c.2467T>A (p.Tyr823Asn) | |
| 12 | g.51762566T>C | CA384883639 | SCN8A | c.2434T>C (p.Tyr812His) c.281T>C c.438T>C n.2562T>C c.2467T>C (p.Tyr823His) | |
| 12 | g.51762566T>G | CA384883643 | SCN8A | c.2434T>G (p.Tyr812Asp) c.281T>G c.438T>G n.2562T>G c.2467T>G (p.Tyr823Asp) | |
| 12 | g.51762567A>C | CA384883652 | SCN8A | c.2435A>C (p.Tyr812Ser) c.282A>C c.439A>C n.2563A>C c.2468A>C (p.Tyr823Ser) | |
| 12 | g.51762567A>G | CA384883656 | SCN8A | c.2435A>G (p.Tyr812Cys) c.282A>G c.439A>G n.2563A>G c.2468A>G (p.Tyr823Cys) | |
| 12 | g.51762567A>T | CA384883647 | SCN8A | c.2435A>T (p.Tyr812Phe) c.282A>T c.439A>T n.2563A>T c.2468A>T (p.Tyr823Phe) | |
| 12 | g.51762568T>A | CA384883665 | SCN8A | c.2436T>A (p.Tyr812Ter) c.283T>A c.440T>A n.2564T>A c.2469T>A (p.Tyr823Ter) | |
| 12 | g.51762568T>C | CA479788243 | SCN8A | c.2436T>C (p.Tyr812=) c.283T>C c.440T>C n.2564T>C c.2469T>C (p.Tyr823=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51762568T>G | CA384883676 | SCN8A | c.2436T>G (p.Tyr812Ter) c.283T>G c.440T>G n.2564T>G c.2469T>G (p.Tyr823Ter) | |
| 12 | g.51762568T= | CA2036180331 | SCN8A | c.2436T= (p.Tyr812=) c.283T= c.440T= n.2564T= c.2469T= (p.Tyr823=) | |
| 12 | g.51762569T>A | CA384883682 | SCN8A | c.2437T>A (p.Phe813Ile) c.284T>A c.441T>A n.2565T>A c.2470T>A (p.Phe824Ile) | |
| 12 | g.51762569T>C | CA384883692 | SCN8A | c.2437T>C (p.Phe813Leu) c.284T>C c.441T>C n.2565T>C c.2470T>C (p.Phe824Leu) | gnomAD v4 |
| 12 | g.51762569T>G | CA384883696 | SCN8A | c.2437T>G (p.Phe813Val) c.284T>G c.441T>G n.2565T>G c.2470T>G (p.Phe824Val) | |
| 12 | g.51762570T>A | CA384883713 | SCN8A | c.2438T>A (p.Phe813Tyr) c.285T>A c.442T>A n.2566T>A c.2471T>A (p.Phe824Tyr) | |
| 12 | g.51762570T>C | CA384883709 | SCN8A | c.2438T>C (p.Phe813Ser) c.285T>C c.442T>C n.2566T>C c.2471T>C (p.Phe824Ser) | |
| 12 | g.51762570T>G | CA384883711 | SCN8A | c.2438T>G (p.Phe813Cys) c.285T>G c.442T>G n.2566T>G c.2471T>G (p.Phe824Cys) | |
| 12 | g.51762571C>A | CA384883718 | SCN8A | c.2439C>A (p.Phe813Leu) c.286C>A c.443C>A n.2567C>A c.2472C>A (p.Phe824Leu) | |
| 12 | g.51762571C>G | CA384883721 | SCN8A | c.2439C>G (p.Phe813Leu) c.286C>G c.443C>G n.2567C>G c.2472C>G (p.Phe824Leu) | |
| 12 | g.51762571C>T | CA479788244 | SCN8A | c.2439C>T (p.Phe813=) c.286C>T c.443C>T n.2567C>T c.2472C>T (p.Phe824=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51762572C>A | CA384883724 | SCN8A | c.2440C>A (p.Gln814Lys) c.287C>A c.444C>A n.2568C>A c.2473C>A (p.Gln825Lys) | |
| 12 | g.51762572C>G | CA384883728 | SCN8A | c.2440C>G (p.Gln814Glu) c.287C>G c.444C>G n.2568C>G c.2473C>G (p.Gln825Glu) | |
| 12 | g.51762572C>T | CA384883733 | SCN8A | c.2440C>T (p.Gln814Ter) c.287C>T c.444C>T n.2568C>T c.2473C>T (p.Gln825Ter) | COSMIC COSMIC |
| 12 | g.51762573A= | CA2036180333 | SCN8A | c.2441A= (p.Gln814=) c.288A= c.445A= n.2569A= c.2474A= (p.Gln825=) | |
| 12 | g.51762573A>C | CA384883736 | SCN8A | c.2441A>C (p.Gln814Pro) c.288A>C c.445A>C n.2569A>C c.2474A>C (p.Gln825Pro) | |
| 12 | g.51762573A>G | CA384883735 | SCN8A | c.2441A>G (p.Gln814Arg) c.288A>G c.445A>G n.2569A>G c.2474A>G (p.Gln825Arg) | ClinVar |
| 12 | g.51762573A>T | CA384883734 | SCN8A | c.2441A>T (p.Gln814Leu) c.288A>T c.445A>T n.2569A>T c.2474A>T (p.Gln825Leu) | dbSNP gnomAD v2 |
| 12 | g.51762574A>C | CA384883739 | SCN8A | c.2442A>C (p.Gln814His) c.289A>C c.446A>C n.2570A>C c.2475A>C (p.Gln825His) | |
| 12 | g.51762574A>G | CA479788245 | SCN8A | c.2442A>G (p.Gln814=) c.289A>G c.446A>G n.2570A>G c.2475A>G (p.Gln825=) | gnomAD v4 |
| 12 | g.51762574A>T | CA384883744 | SCN8A | c.2442A>T (p.Gln814His) c.289A>T c.446A>T n.2570A>T c.2475A>T (p.Gln825His) | |
| 12 | g.51762575G>A | CA384883750 | SCN8A | c.2443G>A (p.Glu815Lys) c.290G>A c.447G>A n.2571G>A c.2476G>A (p.Glu826Lys) | gnomAD v4 |
| 12 | g.51762575G>C | CA384883758 | SCN8A | c.2443G>C (p.Glu815Gln) c.290G>C c.447G>C n.2571G>C c.2476G>C (p.Glu826Gln) | |
| 12 | g.51762575G= | CA2036180338 | SCN8A | c.2443G= (p.Glu815=) c.290G= c.447G= n.2571G= c.2476G= (p.Glu826=) | |
| 12 | g.51762575G>T | CA384883776 | SCN8A | c.2443G>T (p.Glu815Ter) c.290G>T c.447G>T n.2571G>T c.2476G>T (p.Glu826Ter) | dbSNP |
| 12 | g.51762576A>C | CA384883782 | SCN8A | c.2444A>C (p.Glu815Ala) c.291A>C c.448A>C n.2572A>C c.2477A>C (p.Glu826Ala) | |
| 12 | g.51762576A>G | CA384883783 | SCN8A | c.2444A>G (p.Glu815Gly) c.291A>G c.448A>G n.2572A>G c.2477A>G (p.Glu826Gly) | |
| 12 | g.51762576A>T | CA384883784 | SCN8A | c.2444A>T (p.Glu815Val) c.291A>T c.448A>T n.2572A>T c.2477A>T (p.Glu826Val) | |
| 12 | g.51762577A>C | CA384883788 | SCN8A | c.2445A>C (p.Glu815Asp) c.292A>C c.449A>C n.2573A>C c.2478A>C (p.Glu826Asp) | |
| 12 | g.51762577A>G | CA479788246 | SCN8A | c.2445A>G (p.Glu815=) c.292A>G c.449A>G n.2573A>G c.2478A>G (p.Glu826=) | |
| 12 | g.51762577A>T | CA384883790 | SCN8A | c.2445A>T (p.Glu815Asp) c.292A>T c.449A>T n.2573A>T c.2478A>T (p.Glu826Asp) | |
| 12 | g.51762578G>A | CA384883792 | SCN8A | c.2446G>A (p.Gly816Ser) c.293G>A c.450G>A n.2574G>A c.2479G>A (p.Gly827Ser) | |
| 12 | g.51762578G>C | CA384883801 | SCN8A | c.2446G>C (p.Gly816Arg) c.293G>C c.450G>C n.2574G>C c.2479G>C (p.Gly827Arg) | |
| 12 | g.51762578G>T | CA384883803 | SCN8A | c.2446G>T (p.Gly816Cys) c.293G>T c.450G>T n.2574G>T c.2479G>T (p.Gly827Cys) | |
| 12 | g.51762579G>A | CA384883820 | SCN8A | c.2447G>A (p.Gly816Asp) c.294G>A c.451G>A n.2575G>A c.2480G>A (p.Gly827Asp) | ClinVar dbSNP |
| 12 | g.51762579G>C | CA384883810 | SCN8A | c.2447G>C (p.Gly816Ala) c.294G>C c.451G>C n.2575G>C c.2480G>C (p.Gly827Ala) | |
| 12 | g.51762579G>T | CA384883817 | SCN8A | c.2447G>T (p.Gly816Val) c.294G>T c.451G>T n.2575G>T c.2480G>T (p.Gly827Val) | |
| 12 | g.51762580T>A | CA479788247 | SCN8A | c.2448T>A (p.Gly816=) c.295T>A c.452T>A n.2576T>A c.2481T>A (p.Gly827=) | ClinVar dbSNP |
| 12 | g.51762580T>C | CA236315784 | SCN8A | c.2448T>C (p.Gly816=) c.295T>C c.452T>C n.2576T>C c.2481T>C (p.Gly827=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51762580T>G | CA479788248 | SCN8A | c.2448T>G (p.Gly816=) c.295T>G c.452T>G n.2576T>G c.2481T>G (p.Gly827=) | |
| 12 | g.51762580T= | CA2036180348 | SCN8A | c.2448T= (p.Gly816=) c.295T= c.452T= n.2576T= c.2481T= (p.Gly827=) | |
| 12 | g.51762581T>A | CA384883826 | SCN8A | c.2449T>A (p.Trp817Arg) c.296T>A c.453T>A n.2577T>A c.2482T>A (p.Trp828Arg) | |
| 12 | g.51762581T>C | CA384883830 | SCN8A | c.2449T>C (p.Trp817Arg) c.296T>C c.453T>C n.2577T>C c.2482T>C (p.Trp828Arg) | |
| 12 | g.51762581T>G | CA384883834 | SCN8A | c.2449T>G (p.Trp817Gly) c.296T>G c.453T>G n.2577T>G c.2482T>G (p.Trp828Gly) | |
| 12 | g.51762582G>A | CA384883848 | SCN8A | c.2450G>A (p.Trp817Ter) c.297G>A c.454G>A n.2578G>A c.2483G>A (p.Trp828Ter) | |
| 12 | g.51762582G>C | CA384883885 | SCN8A | c.2450G>C (p.Trp817Ser) c.297G>C c.454G>C n.2578G>C c.2483G>C (p.Trp828Ser) | |
| 12 | g.51762582G>T | CA384883889 | SCN8A | c.2450G>T (p.Trp817Leu) c.297G>T c.454G>T n.2578G>T c.2483G>T (p.Trp828Leu) | |
| 12 | g.51762583G>A | CA384883893 | SCN8A | c.2451G>A (p.Trp817Ter) c.298G>A c.455G>A n.2579G>A c.2484G>A (p.Trp828Ter) | |
| 12 | g.51762583G>C | CA384883897 | SCN8A | c.2451G>C (p.Trp817Cys) c.298G>C c.455G>C n.2579G>C c.2484G>C (p.Trp828Cys) | |
| 12 | g.51762583G>T | CA384883903 | SCN8A | c.2451G>T (p.Trp817Cys) c.298G>T c.455G>T n.2579G>T c.2484G>T (p.Trp828Cys) | |
| 12 | g.51762584A>C | CA384883927 | SCN8A | c.2452A>C (p.Asn818His) c.299A>C c.456A>C n.2580A>C c.2485A>C (p.Asn829His) | |
| 12 | g.51762584A>G | CA384883934 | SCN8A | c.2452A>G (p.Asn818Asp) c.299A>G c.456A>G n.2580A>G c.2485A>G (p.Asn829Asp) | |
| 12 | g.51762584A>T | CA384883936 | SCN8A | c.2452A>T (p.Asn818Tyr) c.299A>T c.456A>T n.2580A>T c.2485A>T (p.Asn829Tyr) | |
| 12 | g.51762585A>C | CA384883955 | SCN8A | c.2453A>C (p.Asn818Thr) c.300A>C c.457A>C n.2581A>C c.2486A>C (p.Asn829Thr) | |
| 12 | g.51762585A>G | CA384883957 | SCN8A | c.2453A>G (p.Asn818Ser) c.300A>G c.457A>G n.2581A>G c.2486A>G (p.Asn829Ser) | gnomAD v4 |
| 12 | g.51762585A>T | CA384883952 | SCN8A | c.2453A>T (p.Asn818Ile) c.300A>T c.457A>T n.2581A>T c.2486A>T (p.Asn829Ile) | |
| 12 | g.51762586C>A | CA384883964 | SCN8A | c.2454C>A (p.Asn818Lys) c.301C>A c.458C>A n.2582C>A c.2487C>A (p.Asn829Lys) | |
| 12 | g.51762586C>G | CA384883959 | SCN8A | c.2454C>G (p.Asn818Lys) c.301C>G c.458C>G n.2582C>G c.2487C>G (p.Asn829Lys) | |
| 12 | g.51762586C>T | CA479788249 | SCN8A | c.2454C>T (p.Asn818=) c.301C>T c.458C>T n.2582C>T c.2487C>T (p.Asn829=) | gnomAD v3 gnomAD v4 |
| 12 | g.51762587A= | CA2036180353 | SCN8A | c.2455A= (p.Ile819=) c.302A= c.459A= n.2583A= c.2488A= (p.Ile830=) | |
| 12 | g.51762587A>C | CA384883973 | SCN8A | c.2455A>C (p.Ile819Leu) c.302A>C c.459A>C n.2583A>C c.2488A>C (p.Ile830Leu) | |
| 12 | g.51762587A>G | CA384883974 | SCN8A | c.2455A>G (p.Ile819Val) c.302A>G c.459A>G n.2583A>G c.2488A>G (p.Ile830Val) | |
| 12 | g.51762587A>T | CA384883976 | SCN8A | c.2455A>T (p.Ile819Phe) c.302A>T c.459A>T n.2583A>T c.2488A>T (p.Ile830Phe) | |
| 12 | g.51762588T>A | CA384883983 | SCN8A | c.2456T>A (p.Ile819Asn) c.303T>A c.460T>A n.2584T>A c.2489T>A (p.Ile830Asn) | |
| 12 | g.51762588T>C | CA384883989 | SCN8A | c.2456T>C (p.Ile819Thr) c.303T>C c.460T>C n.2584T>C c.2489T>C (p.Ile830Thr) | |
| 12 | g.51762588T>G | CA384883992 | SCN8A | c.2456T>G (p.Ile819Ser) c.303T>G c.460T>G n.2584T>G c.2489T>G (p.Ile830Ser) | |
| 12 | g.51762592dup | CA891843491 | SCN8A | c.2460dup (p.Asp821Ter) c.307dup c.464dup n.2588dup c.2493dup (p.Asp832Ter) | ClinVar dbSNP |
| 12 | g.51762589T>A | CA479788250 | SCN8A | c.2457T>A (p.Ile819=) c.304T>A c.461T>A n.2585T>A c.2490T>A (p.Ile830=) | |
| 12 | g.51762589T>C | CA479788251 | SCN8A | c.2457T>C (p.Ile819=) c.304T>C c.461T>C n.2585T>C c.2490T>C (p.Ile830=) | |
| 12 | g.51762589T>G | CA384884014 | SCN8A | c.2457T>G (p.Ile819Met) c.304T>G c.461T>G n.2585T>G c.2490T>G (p.Ile830Met) | |
| 12 | g.51762590T>A | CA384884027 | SCN8A | c.2458T>A (p.Phe820Ile) c.305T>A c.462T>A n.2586T>A c.2491T>A (p.Phe831Ile) | |
| 12 | g.51762590T>C | CA384884036 | SCN8A | c.2458T>C (p.Phe820Leu) c.305T>C c.462T>C n.2586T>C c.2491T>C (p.Phe831Leu) | |
| 12 | g.51762590T>G | CA384884030 | SCN8A | c.2458T>G (p.Phe820Val) c.305T>G c.462T>G n.2586T>G c.2491T>G (p.Phe831Val) | |
| 12 | g.51762591T>A | CA384884042 | SCN8A | c.2459T>A (p.Phe820Tyr) c.306T>A c.463T>A n.2587T>A c.2492T>A (p.Phe831Tyr) | |
| 12 | g.51762591T>C | CA384884044 | SCN8A | c.2459T>C (p.Phe820Ser) c.306T>C c.463T>C n.2587T>C c.2492T>C (p.Phe831Ser) | |
| 12 | g.51762591T>G | CA384884047 | SCN8A | c.2459T>G (p.Phe820Cys) c.306T>G c.463T>G n.2587T>G c.2492T>G (p.Phe831Cys) | |
| 12 | g.51762592T>A | CA384884049 | SCN8A | c.2460T>A (p.Phe820Leu) c.307T>A c.464T>A n.2588T>A c.2493T>A (p.Phe831Leu) | |
| 12 | g.51762592T>C | CA479788252 | SCN8A | c.2460T>C (p.Phe820=) c.307T>C c.464T>C n.2588T>C c.2493T>C (p.Phe831=) | |
| 12 | g.51762592T>G | CA384884053 | SCN8A | c.2460T>G (p.Phe820Leu) c.307T>G c.464T>G n.2588T>G c.2493T>G (p.Phe831Leu) | |
| 12 | g.51762593G>A | CA384884059 | SCN8A | c.2461G>A (p.Asp821Asn) c.308G>A c.465G>A n.2589G>A c.2494G>A (p.Asp832Asn) | |
| 12 | g.51762593G>C | CA384884070 | SCN8A | c.2461G>C (p.Asp821His) c.308G>C c.465G>C n.2589G>C c.2494G>C (p.Asp832His) | |
| 12 | g.51762593G>T | CA384884064 | SCN8A | c.2461G>T (p.Asp821Tyr) c.308G>T c.465G>T n.2589G>T c.2494G>T (p.Asp832Tyr) | |
| 12 | g.51762594A>C | CA384884074 | SCN8A | c.2462A>C (p.Asp821Ala) c.309A>C c.466A>C n.2590A>C c.2495A>C (p.Asp832Ala) | |
| 12 | g.51762594A>G | CA384884075 | SCN8A | c.2462A>G (p.Asp821Gly) c.309A>G c.466A>G n.2590A>G c.2495A>G (p.Asp832Gly) | |
| 12 | g.51762594A>T | CA384884078 | SCN8A | c.2462A>T (p.Asp821Val) c.309A>T c.466A>T n.2590A>T c.2495A>T (p.Asp832Val) | |
| 12 | g.51762595C>A | CA384884082 | SCN8A | c.2463C>A (p.Asp821Glu) c.310C>A c.467C>A n.2591C>A c.2496C>A (p.Asp832Glu) | |
| 12 | g.51762595C= | CA2036180373 | SCN8A | c.2463C= (p.Asp821=) c.310C= c.467C= n.2591C= c.2496C= (p.Asp832=) | |
| 12 | g.51762595C>G | CA384884087 | SCN8A | c.2463C>G (p.Asp821Glu) c.310C>G c.467C>G n.2591C>G c.2496C>G (p.Asp832Glu) | |
| 12 | g.51762595C>T | CA6571477 | SCN8A | c.2463C>T (p.Asp821=) c.310C>T c.467C>T n.2591C>T c.2496C>T (p.Asp832=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51762596G>A | CA384884105 | SCN8A | c.2464G>A (p.Gly822Arg) c.311G>A c.468G>A n.2592G>A c.2497G>A (p.Gly833Arg) | ClinVar dbSNP |
| 12 | g.51762596G>C | CA384884108 | SCN8A | c.2464G>C (p.Gly822Arg) c.311G>C c.468G>C n.2592G>C c.2497G>C (p.Gly833Arg) | |
| 12 | g.51762596G= | CA2036180378 | SCN8A | c.2464G= (p.Gly822=) c.311G= c.468G= n.2592G= c.2497G= (p.Gly833=) | |
| 12 | g.51762596G>T | CA384884114 | SCN8A | c.2464G>T (p.Gly822Ter) c.311G>T c.468G>T n.2592G>T c.2497G>T (p.Gly833Ter) | dbSNP |
| 12 | g.51762597del | CA2695216907 | SCN8A | c.2465del (p.Gly822AspfsTer8) c.312del c.469del n.2593del c.2498del (p.Gly833AspfsTer8) | |
| 12 | g.51762597G>A | CA384884117 | SCN8A | c.2465G>A (p.Gly822Glu) c.312G>A c.469G>A n.2593G>A c.2498G>A (p.Gly833Glu) | COSMIC COSMIC |
| 12 | g.51762597G>C | CA236315791 | SCN8A | c.2465G>C (p.Gly822Ala) c.312G>C c.469G>C n.2593G>C c.2498G>C (p.Gly833Ala) | dbSNP |
| 12 | g.51762597G= | CA2036180384 | SCN8A | c.2465G= (p.Gly822=) c.312G= c.469G= n.2593G= c.2498G= (p.Gly833=) | |
| 12 | g.51762597G>T | CA384884119 | SCN8A | c.2465G>T (p.Gly822Val) c.312G>T c.469G>T n.2593G>T c.2498G>T (p.Gly833Val) | |
| 12 | g.51762598A= | CA2036180391 | SCN8A | c.2466A= (p.Gly822=) c.313A= c.470A= n.2594A= c.2499A= (p.Gly833=) | |
| 12 | g.51762598A>C | CA479788255 | SCN8A | c.2466A>C (p.Gly822=) c.313A>C c.470A>C n.2594A>C c.2499A>C (p.Gly833=) | |
| 12 | g.51762598A>G | CA479788253 | SCN8A | c.2466A>G (p.Gly822=) c.313A>G c.470A>G n.2594A>G c.2499A>G (p.Gly833=) | |
| 12 | g.51762598A>T | CA479788254 | SCN8A | c.2466A>T (p.Gly822=) c.313A>T c.470A>T n.2594A>T c.2499A>T (p.Gly833=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51762599T>A | CA384884123 | SCN8A | c.2467T>A (p.Phe823Ile) c.314T>A c.471T>A n.2595T>A c.2500T>A (p.Phe834Ile) | |
| 12 | g.51762599T>C | CA384884127 | SCN8A | c.2467T>C (p.Phe823Leu) c.314T>C c.471T>C n.2595T>C c.2500T>C (p.Phe834Leu) | |
| 12 | g.51762599T>G | CA384884125 | SCN8A | c.2467T>G (p.Phe823Val) c.314T>G c.471T>G n.2595T>G c.2500T>G (p.Phe834Val) | |
| 12 | g.51762600T>A | CA384884131 | SCN8A | c.2468T>A (p.Phe823Tyr) c.315T>A c.472T>A n.2596T>A c.2501T>A (p.Phe834Tyr) | |
| 12 | g.51762600T>C | CA384884133 | SCN8A | c.2468T>C (p.Phe823Ser) c.315T>C c.472T>C n.2596T>C c.2501T>C (p.Phe834Ser) | |
| 12 | g.51762600T>G | CA384884139 | SCN8A | c.2468T>G (p.Phe823Cys) c.315T>G c.472T>G n.2596T>G c.2501T>G (p.Phe834Cys) | |
| 12 | g.51762601T>A | CA384884144 | SCN8A | c.2469T>A (p.Phe823Leu) c.316T>A c.473T>A n.2597T>A c.2502T>A (p.Phe834Leu) | |
| 12 | g.51762601T>C | CA479788256 | SCN8A | c.2469T>C (p.Phe823=) c.316T>C c.473T>C n.2597T>C c.2502T>C (p.Phe834=) | |
| 12 | g.51762601T>G | CA384884151 | SCN8A | c.2469T>G (p.Phe823Leu) c.316T>G c.473T>G n.2597T>G c.2502T>G (p.Phe834Leu) |