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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51751527G>A | CA480061164 | SCN8A | c.2304G>A (p.Leu768=) c.151G>A c.308G>A n.2432G>A c.2337G>A (p.Leu779=) | gnomAD v4 |
| 12 | g.51751527G>C | CA480061166 | SCN8A | c.2304G>C (p.Leu768=) c.151G>C c.308G>C n.2432G>C c.2337G>C (p.Leu779=) | |
| 12 | g.51751527G>T | CA480061165 | SCN8A | c.2304G>T (p.Leu768=) c.151G>T c.308G>T n.2432G>T c.2337G>T (p.Leu779=) | |
| 12 | g.51751528T>A | CA384880080 | SCN8A | c.2305T>A (p.Phe769Ile) c.152T>A c.309T>A n.2433T>A c.2338T>A (p.Phe780Ile) | |
| 12 | g.51751528T>C | CA384880081 | SCN8A | c.2305T>C (p.Phe769Leu) c.152T>C c.309T>C n.2433T>C c.2338T>C (p.Phe780Leu) | |
| 12 | g.51751528T>G | CA384880082 | SCN8A | c.2305T>G (p.Phe769Val) c.152T>G c.309T>G n.2433T>G c.2338T>G (p.Phe780Val) | |
| 12 | g.51751529T>A | CA384880083 | SCN8A | c.2306T>A (p.Phe769Tyr) c.153T>A c.310T>A n.2434T>A c.2339T>A (p.Phe780Tyr) | |
| 12 | g.51751529T>C | CA384880085 | SCN8A | c.2306T>C (p.Phe769Ser) c.153T>C c.310T>C n.2434T>C c.2339T>C (p.Phe780Ser) | |
| 12 | g.51751529T>G | CA384880084 | SCN8A | c.2306T>G (p.Phe769Cys) c.153T>G c.310T>G n.2434T>G c.2339T>G (p.Phe780Cys) | |
| 12 | g.51751530T>A | CA384880086 | SCN8A | c.2307T>A (p.Phe769Leu) c.154T>A c.311T>A n.2435T>A c.2340T>A (p.Phe780Leu) | |
| 12 | g.51751530T>C | CA480061167 | SCN8A | c.2307T>C (p.Phe769=) c.154T>C c.311T>C n.2435T>C c.2340T>C (p.Phe780=) | gnomAD v4 |
| 12 | g.51751530T>G | CA384880087 | SCN8A | c.2307T>G (p.Phe769Leu) c.154T>G c.311T>G n.2435T>G c.2340T>G (p.Phe780Leu) | |
| 12 | g.51751531A>C | CA384880088 | SCN8A | c.2308A>C (p.Met770Leu) c.155A>C c.312A>C n.2436A>C c.2341A>C (p.Met781Leu) | |
| 12 | g.51751531A>G | CA384880089 | SCN8A | c.2308A>G (p.Met770Val) c.155A>G c.312A>G n.2436A>G c.2341A>G (p.Met781Val) | |
| 12 | g.51751531A>T | CA384880090 | SCN8A | c.2308A>T (p.Met770Leu) c.155A>T c.312A>T n.2436A>T c.2341A>T (p.Met781Leu) | |
| 12 | g.51751532T>A | CA384880091 | SCN8A | c.2309T>A (p.Met770Lys) c.156T>A c.313T>A n.2437T>A c.2342T>A (p.Met781Lys) | |
| 12 | g.51751532T>C | CA384880092 | SCN8A | c.2309T>C (p.Met770Thr) c.156T>C c.313T>C n.2437T>C c.2342T>C (p.Met781Thr) | |
| 12 | g.51751532T>G | CA384880093 | SCN8A | c.2309T>G (p.Met770Arg) c.156T>G c.313T>G n.2437T>G c.2342T>G (p.Met781Arg) | |
| 12 | g.51751533G>A | CA384880094 | SCN8A | c.2310G>A (p.Met770Ile) c.157G>A c.314G>A n.2438G>A c.2343G>A (p.Met781Ile) | |
| 12 | g.51751533G>C | CA384880095 | SCN8A | c.2310G>C (p.Met770Ile) c.157G>C c.314G>C n.2438G>C c.2343G>C (p.Met781Ile) | |
| 12 | g.51751533G>T | CA384880096 | SCN8A | c.2310G>T (p.Met770Ile) c.157G>T c.314G>T n.2438G>T c.2343G>T (p.Met781Ile) | |
| 12 | g.51751534G>A | CA384880099 | SCN8A | c.2311G>A (p.Ala771Thr) c.158G>A c.315G>A n.2439G>A c.2344G>A (p.Ala782Thr) | |
| 12 | g.51751534G>C | CA384880098 | SCN8A | c.2311G>C (p.Ala771Pro) c.158G>C c.315G>C n.2439G>C c.2344G>C (p.Ala782Pro) | |
| 12 | g.51751534G>T | CA384880097 | SCN8A | c.2311G>T (p.Ala771Ser) c.158G>T c.315G>T n.2439G>T c.2344G>T (p.Ala782Ser) | |
| 12 | g.51751535C>A | CA384880100 | SCN8A | c.2312C>A (p.Ala771Glu) c.159C>A c.316C>A n.2440C>A c.2345C>A (p.Ala782Glu) | |
| 12 | g.51751535C>G | CA384880101 | SCN8A | c.2312C>G (p.Ala771Gly) c.159C>G c.316C>G n.2440C>G c.2345C>G (p.Ala782Gly) | |
| 12 | g.51751535C>T | CA384880102 | SCN8A | c.2312C>T (p.Ala771Val) c.159C>T c.316C>T n.2440C>T c.2345C>T (p.Ala782Val) | |
| 12 | g.51751536A>C | CA480061170 | SCN8A | c.2313A>C (p.Ala771=) c.160A>C c.317A>C n.2441A>C c.2346A>C (p.Ala782=) | |
| 12 | g.51751536A>G | CA480061169 | SCN8A | c.2313A>G (p.Ala771=) c.160A>G c.317A>G n.2441A>G c.2346A>G (p.Ala782=) | |
| 12 | g.51751536A>T | CA480061168 | SCN8A | c.2313A>T (p.Ala771=) c.160A>T c.317A>T n.2441A>T c.2346A>T (p.Ala782=) | |
| 12 | g.51751537A>C | CA384880103 | SCN8A | c.2314A>C (p.Met772Leu) c.161A>C c.318A>C n.2442A>C c.2347A>C (p.Met783Leu) | |
| 12 | g.51751537A>G | CA384880104 | SCN8A | c.2314A>G (p.Met772Val) c.161A>G c.318A>G n.2442A>G c.2347A>G (p.Met783Val) | ClinVar |
| 12 | g.51751537A>T | CA384880105 | SCN8A | c.2314A>T (p.Met772Leu) c.161A>T c.318A>T n.2442A>T c.2347A>T (p.Met783Leu) | |
| 12 | g.51751538T>A | CA384880106 | SCN8A | c.2315T>A (p.Met772Lys) c.162T>A c.319T>A n.2443T>A c.2348T>A (p.Met783Lys) | |
| 12 | g.51751538T>C | CA384880107 | SCN8A | c.2315T>C (p.Met772Thr) c.162T>C c.319T>C n.2443T>C c.2348T>C (p.Met783Thr) | |
| 12 | g.51751538T>G | CA384880108 | SCN8A | c.2315T>G (p.Met772Arg) c.162T>G c.319T>G n.2443T>G c.2348T>G (p.Met783Arg) | |
| 12 | g.51751539G>A | CA384880109 | SCN8A | c.2316G>A (p.Met772Ile) c.163G>A c.320G>A n.2444G>A c.2349G>A (p.Met783Ile) | |
| 12 | g.51751539G>C | CA384880110 | SCN8A | c.2316G>C (p.Met772Ile) c.163G>C c.320G>C n.2444G>C c.2349G>C (p.Met783Ile) | |
| 12 | g.51751539G>T | CA384880111 | SCN8A | c.2316G>T (p.Met772Ile) c.163G>T c.320G>T n.2444G>T c.2349G>T (p.Met783Ile) | |
| 12 | g.51751540G>A | CA384880114 | SCN8A | c.2317G>A (p.Glu773Lys) c.164G>A c.321G>A n.2445G>A c.2350G>A (p.Glu784Lys) | |
| 12 | g.51751540G>C | CA384880113 | SCN8A | c.2317G>C (p.Glu773Gln) c.164G>C c.321G>C n.2445G>C c.2350G>C (p.Glu784Gln) | |
| 12 | g.51751540G= | CA2036196315 | SCN8A | c.2317G= (p.Glu773=) c.164G= c.321G= n.2445G= c.2350G= (p.Glu784=) | |
| 12 | g.51751540G>T | CA384880112 | SCN8A | c.2317G>T (p.Glu773Ter) c.164G>T c.321G>T n.2445G>T c.2350G>T (p.Glu784Ter) | dbSNP |
| 12 | g.51751541A>C | CA384880115 | SCN8A | c.2318A>C (p.Glu773Ala) c.165A>C c.322A>C n.2446A>C c.2351A>C (p.Glu784Ala) | |
| 12 | g.51751541A>G | CA384880116 | SCN8A | c.2318A>G (p.Glu773Gly) c.165A>G c.322A>G n.2446A>G c.2351A>G (p.Glu784Gly) | |
| 12 | g.51751541A>T | CA384880117 | SCN8A | c.2318A>T (p.Glu773Val) c.165A>T c.322A>T n.2446A>T c.2351A>T (p.Glu784Val) | |
| 12 | g.51751542G>A | CA480061171 | SCN8A | c.2319G>A (p.Glu773=) c.166G>A c.323G>A n.2447G>A c.2352G>A (p.Glu784=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51751542G>C | CA384880118 | SCN8A | c.2319G>C (p.Glu773Asp) c.166G>C c.323G>C n.2447G>C c.2352G>C (p.Glu784Asp) | |
| 12 | g.51751542G= | CA2036196319 | SCN8A | c.2319G= (p.Glu773=) c.166G= c.323G= n.2447G= c.2352G= (p.Glu784=) | |
| 12 | g.51751542G>T | CA384880119 | SCN8A | c.2319G>T (p.Glu773Asp) c.166G>T c.323G>T n.2447G>T c.2352G>T (p.Glu784Asp) | |
| 12 | g.51751543C>A | CA384880120 | SCN8A | c.2320C>A (p.His774Asn) c.167C>A c.324C>A n.2448C>A c.2353C>A (p.His785Asn) | |
| 12 | g.51751543C= | CA2036196322 | SCN8A | c.2320C= (p.His774=) c.167C= c.324C= n.2448C= c.2353C= (p.His785=) | |
| 12 | g.51751543C>G | CA384880121 | SCN8A | c.2320C>G (p.His774Asp) c.167C>G c.324C>G n.2448C>G c.2353C>G (p.His785Asp) | |
| 12 | g.51751543C>T | CA384880122 | SCN8A | c.2320C>T (p.His774Tyr) c.167C>T c.324C>T n.2448C>T c.2353C>T (p.His785Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51751544A= | CA2036196326 | SCN8A | c.2321A= (p.His774=) c.168A= c.325A= n.2449A= c.2354A= (p.His785=) | |
| 12 | g.51751544A>C | CA384880123 | SCN8A | c.2321A>C (p.His774Pro) c.168A>C c.325A>C n.2449A>C c.2354A>C (p.His785Pro) | dbSNP |
| 12 | g.51751544A>G | CA384880124 | SCN8A | c.2321A>G (p.His774Arg) c.168A>G c.325A>G n.2449A>G c.2354A>G (p.His785Arg) | |
| 12 | g.51751544A>T | CA384880125 | SCN8A | c.2321A>T (p.His774Leu) c.168A>T c.325A>T n.2449A>T c.2354A>T (p.His785Leu) | |
| 12 | g.51751545C>A | CA384880126 | SCN8A | c.2322C>A (p.His774Gln) c.169C>A c.326C>A n.2450C>A c.2355C>A (p.His785Gln) | |
| 12 | g.51751545C>G | CA384880127 | SCN8A | c.2322C>G (p.His774Gln) c.169C>G c.326C>G n.2450C>G c.2355C>G (p.His785Gln) | |
| 12 | g.51751545C>T | CA480061172 | SCN8A | c.2322C>T (p.His774=) c.169C>T c.326C>T n.2450C>T c.2355C>T (p.His785=) | |
| 12 | g.51751546C>A | CA384880130 | SCN8A | c.2323C>A (p.His775Asn) c.170C>A c.327C>A n.2451C>A c.2356C>A (p.His786Asn) | |
| 12 | g.51751546C= | CA2036196329 | SCN8A | c.2323C= (p.His775=) c.170C= c.327C= n.2451C= c.2356C= (p.His786=) | |
| 12 | g.51751546C>G | CA384880129 | SCN8A | c.2323C>G (p.His775Asp) c.170C>G c.327C>G n.2451C>G c.2356C>G (p.His786Asp) | |
| 12 | g.51751546C>T | CA384880128 | SCN8A | c.2323C>T (p.His775Tyr) c.170C>T c.327C>T n.2451C>T c.2356C>T (p.His786Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751547A>C | CA384880131 | SCN8A | c.2324A>C (p.His775Pro) c.171A>C c.328A>C n.2452A>C c.2357A>C (p.His786Pro) | |
| 12 | g.51751547A>G | CA384880132 | SCN8A | c.2324A>G (p.His775Arg) c.171A>G c.328A>G n.2452A>G c.2357A>G (p.His786Arg) | |
| 12 | g.51751547A>T | CA384880133 | SCN8A | c.2324A>T (p.His775Leu) c.171A>T c.328A>T n.2452A>T c.2357A>T (p.His786Leu) | |
| 12 | g.51751548T>A | CA384880134 | SCN8A | c.2325T>A (p.His775Gln) c.172T>A c.329T>A n.2453T>A c.2358T>A (p.His786Gln) | |
| 12 | g.51751548T>C | CA16614142 | SCN8A | c.2325T>C (p.His775=) c.172T>C c.329T>C n.2453T>C c.2358T>C (p.His786=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751548T>G | CA384880135 | SCN8A | c.2325T>G (p.His775Gln) c.172T>G c.329T>G n.2453T>G c.2358T>G (p.His786Gln) | |
| 12 | g.51751548T= | CA2036196333 | SCN8A | c.2325T= (p.His775=) c.172T= c.329T= n.2453T= c.2358T= (p.His786=) | |
| 12 | g.51751549C>A | CA384880136 | SCN8A | c.2326C>A (p.Pro776Thr) c.173C>A c.330C>A n.2454C>A c.2359C>A (p.Pro787Thr) | |
| 12 | g.51751549C>G | CA384880137 | SCN8A | c.2326C>G (p.Pro776Ala) c.173C>G c.330C>G n.2454C>G c.2359C>G (p.Pro787Ala) | |
| 12 | g.51751549C>T | CA384880138 | SCN8A | c.2326C>T (p.Pro776Ser) c.173C>T c.330C>T n.2454C>T c.2359C>T (p.Pro787Ser) | |
| 12 | g.51751550C>A | CA384880139 | SCN8A | c.2327C>A (p.Pro776His) c.174C>A c.331C>A n.2455C>A c.2360C>A (p.Pro787His) | |
| 12 | g.51751550C>G | CA384880140 | SCN8A | c.2327C>G (p.Pro776Arg) c.174C>G c.331C>G n.2455C>G c.2360C>G (p.Pro787Arg) | |
| 12 | g.51751550C>T | CA384880141 | SCN8A | c.2327C>T (p.Pro776Leu) c.174C>T c.331C>T n.2455C>T c.2360C>T (p.Pro787Leu) | |
| 12 | g.51751551T>A | CA480061173 | SCN8A | c.2328T>A (p.Pro776=) c.175T>A c.332T>A n.2456T>A c.2361T>A (p.Pro787=) | |
| 12 | g.51751551T>C | CA480061174 | SCN8A | c.2328T>C (p.Pro776=) c.175T>C c.332T>C n.2456T>C c.2361T>C (p.Pro787=) | gnomAD v4 |
| 12 | g.51751551T>G | CA480061175 | SCN8A | c.2328T>G (p.Pro776=) c.175T>G c.332T>G n.2456T>G c.2361T>G (p.Pro787=) | |
| 12 | g.51751552A= | CA2036196336 | SCN8A | c.2329A= (p.Met777=) c.176A= c.333A= n.2457A= c.2362A= (p.Met788=) | |
| 12 | g.51751552A>C | CA384880142 | SCN8A | c.2329A>C (p.Met777Leu) c.176A>C c.333A>C n.2457A>C c.2362A>C (p.Met788Leu) | |
| 12 | g.51751552A>G | CA384880143 | SCN8A | c.2329A>G (p.Met777Val) c.176A>G c.333A>G n.2457A>G c.2362A>G (p.Met788Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751552A>T | CA384880144 | SCN8A | c.2329A>T (p.Met777Leu) c.176A>T c.333A>T n.2457A>T c.2362A>T (p.Met788Leu) | |
| 12 | g.51751553T>A | CA384880146 | SCN8A | c.2330T>A (p.Met777Lys) c.177T>A c.334T>A n.2458T>A c.2363T>A (p.Met788Lys) | |
| 12 | g.51751553T>C | CA384880147 | SCN8A | c.2330T>C (p.Met777Thr) c.177T>C c.334T>C n.2458T>C c.2363T>C (p.Met788Thr) | |
| 12 | g.51751553T>G | CA384880145 | SCN8A | c.2330T>G (p.Met777Arg) c.177T>G c.334T>G n.2458T>G c.2363T>G (p.Met788Arg) | |
| 12 | g.51751554G>A | CA384880148 | SCN8A | c.2331G>A (p.Met777Ile) c.178G>A c.335G>A n.2459G>A c.2364G>A (p.Met788Ile) | |
| 12 | g.51751554G>C | CA384880149 | SCN8A | c.2331G>C (p.Met777Ile) c.178G>C c.335G>C n.2459G>C c.2364G>C (p.Met788Ile) | |
| 12 | g.51751554G>T | CA384880150 | SCN8A | c.2331G>T (p.Met777Ile) c.178G>T c.335G>T n.2459G>T c.2364G>T (p.Met788Ile) | |
| 12 | g.51751555A>C | CA384880151 | SCN8A | c.2332A>C (p.Thr778Pro) c.179A>C c.336A>C n.2460A>C c.2365A>C (p.Thr789Pro) | |
| 12 | g.51751555A>G | CA384880152 | SCN8A | c.2332A>G (p.Thr778Ala) c.179A>G c.336A>G n.2460A>G c.2365A>G (p.Thr789Ala) | |
| 12 | g.51751555A>T | CA384880153 | SCN8A | c.2332A>T (p.Thr778Ser) c.179A>T c.336A>T n.2460A>T c.2365A>T (p.Thr789Ser) | |
| 12 | g.51751556C>A | CA384880154 | SCN8A | c.2333C>A (p.Thr778Lys) c.180C>A c.337C>A n.2461C>A c.2366C>A (p.Thr789Lys) | |
| 12 | g.51751556C>G | CA384880155 | SCN8A | c.2333C>G (p.Thr778Arg) c.180C>G c.337C>G n.2461C>G c.2366C>G (p.Thr789Arg) | |
| 12 | g.51751556C>T | CA384880156 | SCN8A | c.2333C>T (p.Thr778Ile) c.180C>T c.337C>T n.2461C>T c.2366C>T (p.Thr789Ile) | |
| 12 | g.51751557A>C | CA480061178 | SCN8A | c.2334A>C (p.Thr778=) c.181A>C c.338A>C n.2462A>C c.2367A>C (p.Thr789=) | |
| 12 | g.51751557A>G | CA480061177 | SCN8A | c.2334A>G (p.Thr778=) c.181A>G c.338A>G n.2462A>G c.2367A>G (p.Thr789=) | |
| 12 | g.51751557A>T | CA480061176 | SCN8A | c.2334A>T (p.Thr778=) c.181A>T c.338A>T n.2462A>T c.2367A>T (p.Thr789=) | |
| 12 | g.51751558C>A | CA6571456 | SCN8A | c.2335C>A (p.Pro779Thr) c.182C>A c.339C>A n.2463C>A c.2368C>A (p.Pro790Thr) | dbSNP ExAC gnomAD v2 |
| 12 | g.51751558C= | CA2036196340 | SCN8A | c.2335C= (p.Pro779=) c.182C= c.339C= n.2463C= c.2368C= (p.Pro790=) | |
| 12 | g.51751558C>G | CA384880157 | SCN8A | c.2335C>G (p.Pro779Ala) c.182C>G c.339C>G n.2463C>G c.2368C>G (p.Pro790Ala) | |
| 12 | g.51751558C>T | CA384880158 | SCN8A | c.2335C>T (p.Pro779Ser) c.182C>T c.339C>T n.2463C>T c.2368C>T (p.Pro790Ser) | gnomAD v4 |
| 12 | g.51751559C>A | CA384880161 | SCN8A | c.2336C>A (p.Pro779Gln) c.183C>A c.340C>A n.2464C>A c.2369C>A (p.Pro790Gln) | |
| 12 | g.51751559C>G | CA384880159 | SCN8A | c.2336C>G (p.Pro779Arg) c.183C>G c.340C>G n.2464C>G c.2369C>G (p.Pro790Arg) | |
| 12 | g.51751559C>T | CA384880160 | SCN8A | c.2336C>T (p.Pro779Leu) c.183C>T c.340C>T n.2464C>T c.2369C>T (p.Pro790Leu) | COSMIC |
| 12 | g.51751560A= | CA2036196343 | SCN8A | c.2337A= (p.Pro779=) c.184A= c.341A= n.2465A= c.2370A= (p.Pro790=) | |
| 12 | g.51751560A>C | CA480061179 | SCN8A | c.2337A>C (p.Pro779=) c.184A>C c.341A>C n.2465A>C c.2370A>C (p.Pro790=) | |
| 12 | g.51751560A>G | CA6571457 | SCN8A | c.2337A>G (p.Pro779=) c.184A>G c.341A>G n.2465A>G c.2370A>G (p.Pro790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751560A>T | CA480061180 | SCN8A | c.2337A>T (p.Pro779=) c.184A>T c.341A>T n.2465A>T c.2370A>T (p.Pro790=) | |
| 12 | g.51751561C>A | CA384880162 | SCN8A | c.2338C>A (p.Gln780Lys) c.185C>A c.342C>A n.2466C>A c.2371C>A (p.Gln791Lys) | |
| 12 | g.51751561C= | CA2036196347 | SCN8A | c.2338C= (p.Gln780=) c.185C= c.342C= n.2466C= c.2371C= (p.Gln791=) | |
| 12 | g.51751561C>G | CA384880163 | SCN8A | c.2338C>G (p.Gln780Glu) c.185C>G c.342C>G n.2466C>G c.2371C>G (p.Gln791Glu) | |
| 12 | g.51751561C>T | CA384880164 | SCN8A | c.2338C>T (p.Gln780Ter) c.185C>T c.342C>T n.2466C>T c.2371C>T (p.Gln791Ter) | dbSNP |
| 12 | g.51751562A>C | CA384880165 | SCN8A | c.2339A>C (p.Gln780Pro) c.186A>C c.343A>C n.2467A>C c.2372A>C (p.Gln791Pro) | |
| 12 | g.51751562A>G | CA384880166 | SCN8A | c.2339A>G (p.Gln780Arg) c.186A>G c.343A>G n.2467A>G c.2372A>G (p.Gln791Arg) | |
| 12 | g.51751562A>T | CA384880167 | SCN8A | c.2339A>T (p.Gln780Leu) c.186A>T c.343A>T n.2467A>T c.2372A>T (p.Gln791Leu) | |
| 12 | g.51751563A>C | CA384880168 | SCN8A | c.2340A>C (p.Gln780His) c.187A>C c.344A>C n.2468A>C c.2373A>C (p.Gln791His) | |
| 12 | g.51751563A>G | CA480061181 | SCN8A | c.2340A>G (p.Gln780=) c.187A>G c.344A>G n.2468A>G c.2373A>G (p.Gln791=) | gnomAD v4 |
| 12 | g.51751563A>T | CA384880169 | SCN8A | c.2340A>T (p.Gln780His) c.187A>T c.344A>T n.2468A>T c.2373A>T (p.Gln791His) | |
| 12 | g.51751564T>A | CA384880170 | SCN8A | c.2341T>A (p.Phe781Ile) c.188T>A c.345T>A n.2469T>A c.2374T>A (p.Phe792Ile) | |
| 12 | g.51751564T>C | CA384880171 | SCN8A | c.2341T>C (p.Phe781Leu) c.188T>C c.345T>C n.2469T>C c.2374T>C (p.Phe792Leu) | |
| 12 | g.51751564T>G | CA384880172 | SCN8A | c.2341T>G (p.Phe781Val) c.188T>G c.345T>G n.2469T>G c.2374T>G (p.Phe792Val) | COSMIC COSMIC |
| 12 | g.51751565T>A | CA384880174 | SCN8A | c.2342T>A (p.Phe781Tyr) c.189T>A c.346T>A n.2470T>A c.2375T>A (p.Phe792Tyr) | |
| 12 | g.51751565T>C | CA384880175 | SCN8A | c.2342T>C (p.Phe781Ser) c.189T>C c.346T>C n.2470T>C c.2375T>C (p.Phe792Ser) | |
| 12 | g.51751565T>G | CA384880173 | SCN8A | c.2342T>G (p.Phe781Cys) c.189T>G c.346T>G n.2470T>G c.2375T>G (p.Phe792Cys) | |
| 12 | g.51751566T>A | CA384880177 | SCN8A | c.2343T>A (p.Phe781Leu) c.190T>A c.347T>A n.2471T>A c.2376T>A (p.Phe792Leu) | |
| 12 | g.51751566T>C | CA480061182 | SCN8A | c.2343T>C (p.Phe781=) c.190T>C c.347T>C n.2471T>C c.2376T>C (p.Phe792=) | |
| 12 | g.51751566T>G | CA384880176 | SCN8A | c.2343T>G (p.Phe781Leu) c.190T>G c.347T>G n.2471T>G c.2376T>G (p.Phe792Leu) | |
| 12 | g.51751567G>A | CA384880179 | SCN8A | c.2344G>A (p.Glu782Lys) c.191G>A c.348G>A n.2472G>A c.2377G>A (p.Glu793Lys) | |
| 12 | g.51751567G>C | CA384880178 | SCN8A | c.2344G>C (p.Glu782Gln) c.191G>C c.348G>C n.2472G>C c.2377G>C (p.Glu793Gln) | dbSNP gnomAD v4 |
| 12 | g.51751567G= | CA2036196351 | SCN8A | c.2344G= (p.Glu782=) c.191G= c.348G= n.2472G= c.2377G= (p.Glu793=) | |
| 12 | g.51751567G>T | CA384880180 | SCN8A | c.2344G>T (p.Glu782Ter) c.191G>T c.348G>T n.2472G>T c.2377G>T (p.Glu793Ter) | dbSNP |
| 12 | g.51751568A>C | CA384880181 | SCN8A | c.2345A>C (p.Glu782Ala) c.192A>C c.349A>C n.2473A>C c.2378A>C (p.Glu793Ala) | |
| 12 | g.51751568A>G | CA384880182 | SCN8A | c.2345A>G (p.Glu782Gly) c.192A>G c.349A>G n.2473A>G c.2378A>G (p.Glu793Gly) | |
| 12 | g.51751568A>T | CA384880183 | SCN8A | c.2345A>T (p.Glu782Val) c.192A>T c.349A>T n.2473A>T c.2378A>T (p.Glu793Val) | |
| 12 | g.51751569A>C | CA384880184 | SCN8A | c.2346A>C (p.Glu782Asp) c.193A>C c.350A>C n.2474A>C c.2379A>C (p.Glu793Asp) | |
| 12 | g.51751569A>G | CA480061183 | SCN8A | c.2346A>G (p.Glu782=) c.193A>G c.350A>G n.2474A>G c.2379A>G (p.Glu793=) | |
| 12 | g.51751569A>T | CA384880185 | SCN8A | c.2346A>T (p.Glu782Asp) c.193A>T c.350A>T n.2474A>T c.2379A>T (p.Glu793Asp) | |
| 12 | g.51751570C>A | CA384880186 | SCN8A | c.2347C>A (p.His783Asn) c.194C>A c.351C>A n.2475C>A c.2380C>A (p.His794Asn) | gnomAD v4 |
| 12 | g.51751570C= | CA2036196354 | SCN8A | c.2347C= (p.His783=) c.194C= c.351C= n.2475C= c.2380C= (p.His794=) | |
| 12 | g.51751570C>G | CA384880187 | SCN8A | c.2347C>G (p.His783Asp) c.194C>G c.351C>G n.2475C>G c.2380C>G (p.His794Asp) | |
| 12 | g.51751570C>T | CA384880188 | SCN8A | c.2347C>T (p.His783Tyr) c.194C>T c.351C>T n.2475C>T c.2380C>T (p.His794Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751571A>C | CA384880189 | SCN8A | c.2348A>C (p.His783Pro) c.195A>C c.352A>C n.2476A>C c.2381A>C (p.His794Pro) | |
| 12 | g.51751571A>G | CA384880190 | SCN8A | c.2348A>G (p.His783Arg) c.195A>G c.352A>G n.2476A>G c.2381A>G (p.His794Arg) | |
| 12 | g.51751571A>T | CA384880191 | SCN8A | c.2348A>T (p.His783Leu) c.195A>T c.352A>T n.2476A>T c.2381A>T (p.His794Leu) | |
| 12 | g.51751572T>A | CA384880192 | SCN8A | c.2349T>A (p.His783Gln) c.196T>A c.353T>A n.2477T>A c.2382T>A (p.His794Gln) | |
| 12 | g.51751572T>C | CA480061184 | SCN8A | c.2349T>C (p.His783=) c.196T>C c.353T>C n.2477T>C c.2382T>C (p.His794=) | gnomAD v4 |
| 12 | g.51751572T>G | CA384880193 | SCN8A | c.2349T>G (p.His783Gln) c.196T>G c.353T>G n.2477T>G c.2382T>G (p.His794Gln) | |
| 12 | g.51751573G>A | CA384880194 | SCN8A | c.2350G>A (p.Val784Ile) c.197G>A c.354G>A n.2478G>A c.2383G>A (p.Val795Ile) | ClinVar dbSNP |
| 12 | g.51751573G>C | CA384880196 | SCN8A | c.2350G>C (p.Val784Leu) c.197G>C c.354G>C n.2478G>C c.2383G>C (p.Val795Leu) | |
| 12 | g.51751573G= | CA2036196356 | SCN8A | c.2350G= (p.Val784=) c.197G= c.354G= n.2478G= c.2383G= (p.Val795=) | |
| 12 | g.51751573G>T | CA384880195 | SCN8A | c.2350G>T (p.Val784Phe) c.197G>T c.354G>T n.2478G>T c.2383G>T (p.Val795Phe) | |
| 12 | g.51751574T>A | CA384880197 | SCN8A | c.2351T>A (p.Val784Asp) c.198T>A c.355T>A n.2479T>A c.2384T>A (p.Val795Asp) | |
| 12 | g.51751574T>C | CA384880198 | SCN8A | c.2351T>C (p.Val784Ala) c.198T>C c.355T>C n.2479T>C c.2384T>C (p.Val795Ala) | |
| 12 | g.51751574T>G | CA384880199 | SCN8A | c.2351T>G (p.Val784Gly) c.198T>G c.355T>G n.2479T>G c.2384T>G (p.Val795Gly) | |
| 12 | g.51751575C>A | CA480061185 | SCN8A | c.2352C>A (p.Val784=) c.199C>A c.356C>A n.2480C>A c.2385C>A (p.Val795=) | gnomAD v4 |
| 12 | g.51751575C>G | CA480061186 | SCN8A | c.2352C>G (p.Val784=) c.199C>G c.356C>G n.2480C>G c.2385C>G (p.Val795=) | ClinVar dbSNP |
| 12 | g.51751575C>T | CA480061187 | SCN8A | c.2352C>T (p.Val784=) c.199C>T c.356C>T n.2480C>T c.2385C>T (p.Val795=) | |
| 12 | g.51751576T>A | CA384880200 | SCN8A | c.2353T>A (p.Leu785Met) c.200T>A c.357T>A n.2481T>A c.2386T>A (p.Leu796Met) | |
| 12 | g.51751576T>C | CA480061188 | SCN8A | c.2353T>C (p.Leu785=) c.200T>C c.357T>C n.2481T>C c.2386T>C (p.Leu796=) | |
| 12 | g.51751576T>G | CA384880201 | SCN8A | c.2353T>G (p.Leu785Val) c.200T>G c.357T>G n.2481T>G c.2386T>G (p.Leu796Val) | |
| 12 | g.51751577T>A | CA384880202 | SCN8A | c.2354T>A (p.Leu785Ter) c.201T>A c.358T>A n.2482T>A c.2387T>A (p.Leu796Ter) | dbSNP |
| 12 | g.51751577T>C | CA384880203 | SCN8A | c.2354T>C (p.Leu785Ser) c.201T>C c.358T>C n.2482T>C c.2387T>C (p.Leu796Ser) | |
| 12 | g.51751577T>G | CA384880204 | SCN8A | c.2354T>G (p.Leu785Trp) c.201T>G c.358T>G n.2482T>G c.2387T>G (p.Leu796Trp) | |
| 12 | g.51751577T= | CA2036196360 | SCN8A | c.2354T= (p.Leu785=) c.201T= c.358T= n.2482T= c.2387T= (p.Leu796=) | |
| 12 | g.51751578G>A | CA480061189 | SCN8A | c.2355G>A (p.Leu785=) c.202G>A c.359G>A n.2483G>A c.2388G>A (p.Leu796=) | COSMIC COSMIC |
| 12 | g.51751578G>C | CA384880205 | SCN8A | c.2355G>C (p.Leu785Phe) c.202G>C c.359G>C n.2483G>C c.2388G>C (p.Leu796Phe) | |
| 12 | g.51751578G>T | CA384880206 | SCN8A | c.2355G>T (p.Leu785Phe) c.202G>T c.359G>T n.2483G>T c.2388G>T (p.Leu796Phe) | COSMIC COSMIC |
| 12 | g.51751579G>A | CA384880208 | SCN8A | c.2356G>A (p.Ala786Thr) c.203G>A c.360G>A n.2484G>A c.2389G>A (p.Ala797Thr) | |
| 12 | g.51751579G>C | CA384880209 | SCN8A | c.2356G>C (p.Ala786Pro) c.203G>C c.360G>C n.2484G>C c.2389G>C (p.Ala797Pro) | |
| 12 | g.51751579G>T | CA384880207 | SCN8A | c.2356G>T (p.Ala786Ser) c.203G>T c.360G>T n.2484G>T c.2389G>T (p.Ala797Ser) | |
| 12 | g.51751580C>A | CA384880210 | SCN8A | c.2357C>A (p.Ala786Asp) c.204C>A c.361C>A n.2485C>A c.2390C>A (p.Ala797Asp) | |
| 12 | g.51751580C>G | CA384880211 | SCN8A | c.2357C>G (p.Ala786Gly) c.204C>G c.361C>G n.2485C>G c.2390C>G (p.Ala797Gly) | |
| 12 | g.51751580C>T | CA384880212 | SCN8A | c.2357C>T (p.Ala786Val) c.204C>T c.361C>T n.2485C>T c.2390C>T (p.Ala797Val) | |
| 12 | g.51751581T>A | CA480061190 | SCN8A | c.2358T>A (p.Ala786=) c.205T>A c.362T>A n.2486T>A c.2391T>A (p.Ala797=) | |
| 12 | g.51751581T>C | CA480061191 | SCN8A | c.2358T>C (p.Ala786=) c.205T>C c.362T>C n.2486T>C c.2391T>C (p.Ala797=) | |
| 12 | g.51751581T>G | CA480061192 | SCN8A | c.2358T>G (p.Ala786=) c.205T>G c.362T>G n.2486T>G c.2391T>G (p.Ala797=) | |
| 12 | g.51751582G>A | CA384880213 | SCN8A | c.2359G>A (p.Val787Ile) c.206G>A c.363G>A n.2487G>A c.2392G>A (p.Val798Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751582G>C | CA384880214 | SCN8A | c.2359G>C (p.Val787Leu) c.206G>C c.363G>C n.2487G>C c.2392G>C (p.Val798Leu) | |
| 12 | g.51751582G= | CA2036196361 | SCN8A | c.2359G= (p.Val787=) c.206G= c.363G= n.2487G= c.2392G= (p.Val798=) | |
| 12 | g.51751582G>T | CA384880215 | SCN8A | c.2359G>T (p.Val787Leu) c.206G>T c.363G>T n.2487G>T c.2392G>T (p.Val798Leu) | |
| 12 | g.51751583T>A | CA384880216 | SCN8A | c.2360T>A (p.Val787Glu) c.207T>A c.364T>A n.2488T>A c.2393T>A (p.Val798Glu) | |
| 12 | g.51751583T>C | CA384880217 | SCN8A | c.2360T>C (p.Val787Ala) c.207T>C c.364T>C n.2488T>C c.2393T>C (p.Val798Ala) | |
| 12 | g.51751583T>G | CA384880218 | SCN8A | c.2360T>G (p.Val787Gly) c.207T>G c.364T>G n.2488T>G c.2393T>G (p.Val798Gly) | |
| 12 | g.51751584A>C | CA480061193 | SCN8A | c.2361A>C (p.Val787=) c.208A>C c.365A>C n.2489A>C c.2394A>C (p.Val798=) | |
| 12 | g.51751584A>G | CA480061194 | SCN8A | c.2361A>G (p.Val787=) c.208A>G c.365A>G n.2489A>G c.2394A>G (p.Val798=) | |
| 12 | g.51751584A>T | CA480061195 | SCN8A | c.2361A>T (p.Val787=) c.208A>T c.365A>T n.2489A>T c.2394A>T (p.Val798=) | |
| 12 | g.51751585G>A | CA384880219 | SCN8A | c.2362G>A (p.Gly788Arg) c.209G>A c.366G>A n.2490G>A c.2395G>A (p.Gly799Arg) | |
| 12 | g.51751585G>C | CA384880220 | SCN8A | c.2362G>C (p.Gly788Arg) c.209G>C c.366G>C n.2490G>C c.2395G>C (p.Gly799Arg) | |
| 12 | g.51751585G= | CA2036196364 | SCN8A | c.2362G= (p.Gly788=) c.209G= c.366G= n.2490G= c.2395G= (p.Gly799=) | |
| 12 | g.51751585G>T | CA384880221 | SCN8A | c.2362G>T (p.Gly788Ter) c.209G>T c.366G>T n.2490G>T c.2395G>T (p.Gly799Ter) | dbSNP |
| 12 | g.51751587_51751594del | CA2573148766 | SCN8A | c.2364_2370+1del c.211_217+1del c.368_374+1del n.2492_2498+1del c.2397_2403+1del | ClinVar dbSNP |
| 12 | g.51751586G>A | CA384880223 | SCN8A | c.2363G>A (p.Gly788Glu) c.210G>A c.367G>A n.2491G>A c.2396G>A (p.Gly799Glu) | ClinVar |
| 12 | g.51751586G>C | CA384880224 | SCN8A | c.2363G>C (p.Gly788Ala) c.210G>C c.367G>C n.2491G>C c.2396G>C (p.Gly799Ala) | |
| 12 | g.51751586G>T | CA384880222 | SCN8A | c.2363G>T (p.Gly788Val) c.210G>T c.367G>T n.2491G>T c.2396G>T (p.Gly799Val) | |
| 12 | g.51751587A>C | CA480061196 | SCN8A | c.2364A>C (p.Gly788=) c.211A>C c.368A>C n.2492A>C c.2397A>C (p.Gly799=) | |
| 12 | g.51751587A>G | CA480061197 | SCN8A | c.2364A>G (p.Gly788=) c.211A>G c.368A>G n.2492A>G c.2397A>G (p.Gly799=) | |
| 12 | g.51751587A>T | CA480061198 | SCN8A | c.2364A>T (p.Gly788=) c.211A>T c.368A>T n.2492A>T c.2397A>T (p.Gly799=) | |
| 12 | g.51751588A>C | CA384880225 | SCN8A | c.2365A>C (p.Asn789His) c.212A>C c.369A>C n.2493A>C c.2398A>C (p.Asn800His) | gnomAD v4 |
| 12 | g.51751588A>G | CA384880226 | SCN8A | c.2365A>G (p.Asn789Asp) c.212A>G c.369A>G n.2493A>G c.2398A>G (p.Asn800Asp) | |
| 12 | g.51751588A>T | CA384880227 | SCN8A | c.2365A>T (p.Asn789Tyr) c.212A>T c.369A>T n.2493A>T c.2398A>T (p.Asn800Tyr) | |
| 12 | g.51751589A>C | CA384880228 | SCN8A | c.2366A>C (p.Asn789Thr) c.213A>C c.370A>C n.2494A>C c.2399A>C (p.Asn800Thr) | |
| 12 | g.51751589A>G | CA384880229 | SCN8A | c.2366A>G (p.Asn789Ser) c.213A>G c.370A>G n.2494A>G c.2399A>G (p.Asn800Ser) | |
| 12 | g.51751589A>T | CA384880230 | SCN8A | c.2366A>T (p.Asn789Ile) c.213A>T c.370A>T n.2494A>T c.2399A>T (p.Asn800Ile) | |
| 12 | g.51751590T>A | CA384880231 | SCN8A | c.2367T>A (p.Asn789Lys) c.214T>A c.371T>A n.2495T>A c.2400T>A (p.Asn800Lys) | |
| 12 | g.51751590T>C | CA480061199 | SCN8A | c.2367T>C (p.Asn789=) c.214T>C c.371T>C n.2495T>C c.2400T>C (p.Asn800=) | |
| 12 | g.51751590T>G | CA384880232 | SCN8A | c.2367T>G (p.Asn789Lys) c.214T>G c.371T>G n.2495T>G c.2400T>G (p.Asn800Lys) | |
| 12 | g.51751591C>A | CA384880233 | SCN8A | c.2368C>A (p.Leu790Met) c.215C>A c.372C>A n.2496C>A c.2401C>A (p.Leu801Met) | |
| 12 | g.51751591C>G | CA384880234 | SCN8A | c.2368C>G (p.Leu790Val) c.215C>G c.372C>G n.2496C>G c.2401C>G (p.Leu801Val) | |
| 12 | g.51751591C>T | CA480061200 | SCN8A | c.2368C>T (p.Leu790=) c.215C>T c.372C>T n.2496C>T c.2401C>T (p.Leu801=) | gnomAD v4 |
| 12 | g.51751592T>A | CA384880235 | SCN8A | c.2369T>A (p.Leu790Gln) c.216T>A c.373T>A n.2497T>A c.2402T>A (p.Leu801Gln) | |
| 12 | g.51751592T>C | CA384880236 | SCN8A | c.2369T>C (p.Leu790Pro) c.216T>C c.373T>C n.2497T>C c.2402T>C (p.Leu801Pro) | |
| 12 | g.51751592T>G | CA384880237 | SCN8A | c.2369T>G (p.Leu790Arg) c.216T>G c.373T>G n.2497T>G c.2402T>G (p.Leu801Arg) | |
| 12 | g.51751593G>A | CA480061201 | SCN8A | c.2370G>A (p.Leu790=) c.217G>A c.374G>A n.2498G>A c.2403G>A (p.Leu801=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751593G>C | CA480061202 | SCN8A | c.2370G>C (p.Leu790=) c.217G>C c.374G>C n.2498G>C c.2403G>C (p.Leu801=) | |
| 12 | g.51751593G= | CA2036196368 | SCN8A | c.2370G= (p.Leu790=) c.217G= c.374G= n.2498G= c.2403G= (p.Leu801=) | |
| 12 | g.51751593G>T | CA480061203 | SCN8A | c.2370G>T (p.Leu790=) c.217G>T c.374G>T n.2498G>T c.2403G>T (p.Leu801=) | |
| 12 | g.51751594G>A | CA384880240 | SCN8A | c.2370+1G>A (n.2370+1G>A) c.217+1G>A c.374+1G>A n.2498+1G>A c.2403+1G>A (n.2403+1G>A) | |
| 12 | g.51751594G>C | CA384880239 | SCN8A | c.2370+1G>C (n.2370+1G>C) c.217+1G>C c.374+1G>C n.2498+1G>C c.2403+1G>C (n.2403+1G>C) | |
| 12 | g.51751594G>T | CA384880238 | SCN8A | c.2370+1G>T (n.2370+1G>T) c.217+1G>T c.374+1G>T n.2498+1G>T c.2403+1G>T (n.2403+1G>T) | |
| 12 | g.51751595T>A | CA384880241 | SCN8A | c.2370+2T>A (n.2370+2T>A) c.217+2T>A c.374+2T>A n.2498+2T>A c.2403+2T>A (n.2403+2T>A) | |
| 12 | g.51751595T>C | CA384880243 | SCN8A | c.2370+2T>C (n.2370+2T>C) c.217+2T>C c.374+2T>C n.2498+2T>C c.2403+2T>C (n.2403+2T>C) | |
| 12 | g.51751595T>G | CA384880242 | SCN8A | c.2370+2T>G (n.2370+2T>G) c.217+2T>G c.374+2T>G n.2498+2T>G c.2403+2T>G (n.2403+2T>G) | |
| 12 | g.51751598G>T | CA480061204 | SCN8A | c.2370+5G>T (n.2370+5G>T) c.217+5G>T c.374+5G>T n.2498+5G>T c.2403+5G>T (n.2403+5G>T) | COSMIC |
| 12 | g.51751599A>G | CA2575160118 | SCN8A | c.2370+6A>G (n.2370+6A>G) c.217+6A>G c.374+6A>G n.2498+6A>G c.2403+6A>G (n.2403+6A>G) | |
| 12 | g.51751599A>T | CA2573148767 | SCN8A | c.2370+6A>T (n.2370+6A>T) c.217+6A>T c.374+6A>T n.2498+6A>T c.2403+6A>T (n.2403+6A>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51751600T>C | CA2036196371 | SCN8A | c.2370+7T>C (n.2370+7T>C) c.217+7T>C c.374+7T>C n.2498+7T>C c.2403+7T>C (n.2403+7T>C) | dbSNP gnomAD v4 |
| 12 | g.51751600T>G | CA2036196370 | SCN8A | c.2370+7T>G (n.2370+7T>G) c.217+7T>G c.374+7T>G n.2498+7T>G c.2403+7T>G (n.2403+7T>G) | dbSNP |
| 12 | g.51751600T= | CA2036196372 | SCN8A | c.2370+7T= (n.2370+7T=) c.217+7T= c.374+7T= n.2498+7T= c.2403+7T= (n.2403+7T=) | |
| 12 | g.51751604A= | CA2036196375 | SCN8A | c.2370+11A= (n.2370+11A=) c.217+11A= c.374+11A= n.2498+11A= c.2403+11A= (n.2403+11A=) | |
| 12 | g.51751604A>G | CA689774109 | SCN8A | c.2370+11A>G (n.2370+11A>G) c.217+11A>G c.374+11A>G n.2498+11A>G c.2403+11A>G (n.2403+11A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751605C>A | CA6571458 | SCN8A | c.2370+12C>A (n.2370+12C>A) c.217+12C>A c.374+12C>A n.2498+12C>A c.2403+12C>A (n.2403+12C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751605C= | CA2036196377 | SCN8A | c.2370+12C= (n.2370+12C=) c.217+12C= c.374+12C= n.2498+12C= c.2403+12C= (n.2403+12C=) | |
| 12 | g.51751605C>T | CA2036196379 | SCN8A | c.2370+12C>T (n.2370+12C>T) c.217+12C>T c.374+12C>T n.2498+12C>T c.2403+12C>T (n.2403+12C>T) | dbSNP gnomAD v4 |
| 12 | g.51751606A= | CA2036196383 | SCN8A | c.2370+13A= (n.2370+13A=) c.217+13A= c.374+13A= n.2498+13A= c.2403+13A= (n.2403+13A=) | |
| 12 | g.51751606A>G | CA605238493 | SCN8A | c.2370+13A>G (n.2370+13A>G) c.217+13A>G c.374+13A>G n.2498+13A>G c.2403+13A>G (n.2403+13A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751606_51751608delinsACT | CA2036196382 | SCN8A | c.2370+13_2370+15delinsACT (n.2370+13_2370+15delinsACT) c.217+13_217+15delinsACT c.374+13_374+15delinsACT n.2498+13_2498+15delinsACT c.2403+13_2403+15delinsACT (n.2403+13_2403+15delinsACT) | |
| 12 | g.51751607C>A | CA2618840360 | SCN8A | c.2370+14C>A (n.2370+14C>A) c.217+14C>A c.374+14C>A n.2498+14C>A c.2403+14C>A (n.2403+14C>A) | gnomAD v4 |
| 12 | g.51751607_51751608del | CA6571459 | SCN8A | c.2370+14_2370+15del (n.2370+14_2370+15del) c.217+14_217+15del c.374+14_374+15del n.2498+14_2498+15del c.2403+14_2403+15del (n.2403+14_2403+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51751608T>C | CA689774117 | SCN8A | c.2370+15T>C (n.2370+15T>C) c.217+15T>C c.374+15T>C n.2498+15T>C c.2403+15T>C (n.2403+15T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51751608T= | CA2036196386 | SCN8A | c.2370+15T= (n.2370+15T=) c.217+15T= c.374+15T= n.2498+15T= c.2403+15T= (n.2403+15T=) | |
| 12 | g.51751609G>C | CA605238494 | SCN8A | c.2370+16G>C (n.2370+16G>C) c.217+16G>C c.374+16G>C n.2498+16G>C c.2403+16G>C (n.2403+16G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751609G= | CA2036196389 | SCN8A | c.2370+16G= (n.2370+16G=) c.217+16G= c.374+16G= n.2498+16G= c.2403+16G= (n.2403+16G=) | |
| 12 | g.51751611C>A | CA2618840361 | SCN8A | c.2370+18C>A (n.2370+18C>A) c.217+18C>A c.374+18C>A n.2498+18C>A c.2403+18C>A (n.2403+18C>A) | gnomAD v4 |
| 12 | g.51751611C>G | CA2618840362 | SCN8A | c.2370+18C>G (n.2370+18C>G) c.217+18C>G c.374+18C>G n.2498+18C>G c.2403+18C>G (n.2403+18C>G) | gnomAD v4 |
| 12 | g.51751611C>T | CA2618840363 | SCN8A | c.2370+18C>T (n.2370+18C>T) c.217+18C>T c.374+18C>T n.2498+18C>T c.2403+18C>T (n.2403+18C>T) | gnomAD v4 |
| 12 | g.51751612T>A | CA2575160119 | SCN8A | c.2370+19T>A (n.2370+19T>A) c.217+19T>A c.374+19T>A n.2498+19T>A c.2403+19T>A (n.2403+19T>A) | |
| 12 | g.51751612_51751613delinsTC | CA2036196391 | SCN8A | c.2370+19_2370+20delinsTC (n.2370+19_2370+20delinsTC) c.217+19_217+20delinsTC c.374+19_374+20delinsTC n.2498+19_2498+20delinsTC c.2403+19_2403+20delinsTC (n.2403+19_2403+20delinsTC) | |
| 12 | g.51751613C>A | CA605238495 | SCN8A | c.2370+20C>A (n.2370+20C>A) c.217+20C>A c.374+20C>A n.2498+20C>A c.2403+20C>A (n.2403+20C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751613C= | CA2036196393 | SCN8A | c.2370+20C= (n.2370+20C=) c.217+20C= c.374+20C= n.2498+20C= c.2403+20C= (n.2403+20C=) | |
| 12 | g.51751613C>T | CA2618840364 | SCN8A | c.2370+20C>T (n.2370+20C>T) c.217+20C>T c.374+20C>T n.2498+20C>T c.2403+20C>T (n.2403+20C>T) | gnomAD v4 |
| 12 | g.51751615del | CA605238496 | SCN8A | c.2370+22del (n.2370+22del) c.217+22del c.374+22del n.2498+22del c.2403+22del (n.2403+22del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751615C>A | CA605238497 | SCN8A | c.2370+22C>A (n.2370+22C>A) c.217+22C>A c.374+22C>A n.2498+22C>A c.2403+22C>A (n.2403+22C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51751615C= | CA2036196398 | SCN8A | c.2370+22C= (n.2370+22C=) c.217+22C= c.374+22C= n.2498+22C= c.2403+22C= (n.2403+22C=) | |
| 12 | g.51751615C>T | CA6571460 | SCN8A | c.2370+22C>T (n.2370+22C>T) c.217+22C>T c.374+22C>T n.2498+22C>T c.2403+22C>T (n.2403+22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51751616G>A | CA6571461 | SCN8A | c.2370+23G>A (n.2370+23G>A) c.217+23G>A c.374+23G>A n.2498+23G>A c.2403+23G>A (n.2403+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751616G= | CA2036196400 | SCN8A | c.2370+23G= (n.2370+23G=) c.217+23G= c.374+23G= n.2498+23G= c.2403+23G= (n.2403+23G=) | |
| 12 | g.51751617A>C | CA2795979225 | SCN8A | c.2370+24A>C (n.2370+24A>C) c.217+24A>C c.374+24A>C n.2498+24A>C c.2403+24A>C (n.2403+24A>C) | |
| 12 | g.51751618T>C | CA689774145 | SCN8A | c.2370+25T>C (n.2370+25T>C) c.217+25T>C c.374+25T>C n.2498+25T>C c.2403+25T>C (n.2403+25T>C) | dbSNP |
| 12 | g.51751618T= | CA2036196401 | SCN8A | c.2370+25T= (n.2370+25T=) c.217+25T= c.374+25T= n.2498+25T= c.2403+25T= (n.2403+25T=) | |
| 12 | g.51751620T>C | CA6571462 | SCN8A | c.2370+27T>C (n.2370+27T>C) c.217+27T>C c.374+27T>C n.2498+27T>C c.2403+27T>C (n.2403+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51751620T= | CA2036196403 | SCN8A | c.2370+27T= (n.2370+27T=) c.217+27T= c.374+27T= n.2498+27T= c.2403+27T= (n.2403+27T=) | |
| 12 | g.51751625A= | CA2036196406 | SCN8A | c.2370+32A= (n.2370+32A=) c.217+32A= c.374+32A= n.2498+32A= c.2403+32A= (n.2403+32A=) | |
| 12 | g.51751625A>G | CA2036196405 | SCN8A | c.2370+32A>G (n.2370+32A>G) c.217+32A>G c.374+32A>G n.2498+32A>G c.2403+32A>G (n.2403+32A>G) | dbSNP |