Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51789294C>A | CA384907990 | SCN8A | c.4295C>A (p.Pro1432His) c.2359C>A c.4172C>A (p.Pro1391His) c.4328C>A (p.Pro1443His) | |
12 | g.51789294C>G | CA384907995 | SCN8A | c.4295C>G (p.Pro1432Arg) c.2359C>G c.4172C>G (p.Pro1391Arg) c.4328C>G (p.Pro1443Arg) | |
12 | g.51789294C>T | CA384907993 | SCN8A | c.4295C>T (p.Pro1432Leu) c.2359C>T c.4172C>T (p.Pro1391Leu) c.4328C>T (p.Pro1443Leu) | |
12 | g.51789295T>A | CA479794911 | SCN8A | c.4296T>A (p.Pro1432=) c.2360T>A c.4173T>A (p.Pro1391=) c.4329T>A (p.Pro1443=) | |
12 | g.51789295T>C | CA479794913 | SCN8A | c.4296T>C (p.Pro1432=) c.2360T>C c.4173T>C (p.Pro1391=) c.4329T>C (p.Pro1443=) | gnomAD v4 |
12 | g.51789295T>G | CA479794912 | SCN8A | c.4296T>G (p.Pro1432=) c.2360T>G c.4173T>G (p.Pro1391=) c.4329T>G (p.Pro1443=) | |
12 | g.51789296A= | CA2036172191 | SCN8A | c.4297A= (p.Lys1433=) c.2361A= c.4174A= (p.Lys1392=) c.4330A= (p.Lys1444=) | |
12 | g.51789296A>C | CA384908000 | SCN8A | c.4297A>C (p.Lys1433Gln) c.2361A>C c.4174A>C (p.Lys1392Gln) c.4330A>C (p.Lys1444Gln) | |
12 | g.51789296A>G | CA384908003 | SCN8A | c.4297A>G (p.Lys1433Glu) c.2361A>G c.4174A>G (p.Lys1392Glu) c.4330A>G (p.Lys1444Glu) | COSMIC COSMIC |
12 | g.51789296A>T | CA384908006 | SCN8A | c.4297A>T (p.Lys1433Ter) c.2361A>T c.4174A>T (p.Lys1392Ter) c.4330A>T (p.Lys1444Ter) | dbSNP |
12 | g.51789297A>C | CA384908008 | SCN8A | c.4298A>C (p.Lys1433Thr) c.2362A>C c.4175A>C (p.Lys1392Thr) c.4331A>C (p.Lys1444Thr) | |
12 | g.51789297A>G | CA384908012 | SCN8A | c.4298A>G (p.Lys1433Arg) c.2362A>G c.4175A>G (p.Lys1392Arg) c.4331A>G (p.Lys1444Arg) | |
12 | g.51789297A>T | CA384908014 | SCN8A | c.4298A>T (p.Lys1433Met) c.2362A>T c.4175A>T (p.Lys1392Met) c.4331A>T (p.Lys1444Met) | |
12 | g.51789298G>A | CA479794916 | SCN8A | c.4299G>A (p.Lys1433=) c.2363G>A c.4176G>A (p.Lys1392=) c.4332G>A (p.Lys1444=) | gnomAD v4 |
12 | g.51789298G>C | CA384908016 | SCN8A | c.4299G>C (p.Lys1433Asn) c.2363G>C c.4176G>C (p.Lys1392Asn) c.4332G>C (p.Lys1444Asn) | |
12 | g.51789298G>T | CA384908019 | SCN8A | c.4299G>T (p.Lys1433Asn) c.2363G>T c.4176G>T (p.Lys1392Asn) c.4332G>T (p.Lys1444Asn) | |
12 | g.51789299T>A | CA384908024 | SCN8A | c.4300T>A (p.Tyr1434Asn) c.2364T>A c.4177T>A (p.Tyr1393Asn) c.4333T>A (p.Tyr1445Asn) | |
12 | g.51789299T>C | CA384908027 | SCN8A | c.4300T>C (p.Tyr1434His) c.2364T>C c.4177T>C (p.Tyr1393His) c.4333T>C (p.Tyr1445His) | |
12 | g.51789299T>G | CA384908029 | SCN8A | c.4300T>G (p.Tyr1434Asp) c.2364T>G c.4177T>G (p.Tyr1393Asp) c.4333T>G (p.Tyr1445Asp) | |
12 | g.51789300A>C | CA384908036 | SCN8A | c.4301A>C (p.Tyr1434Ser) c.2365A>C c.4178A>C (p.Tyr1393Ser) c.4334A>C (p.Tyr1445Ser) | |
12 | g.51789300A>G | CA384908031 | SCN8A | c.4301A>G (p.Tyr1434Cys) c.2365A>G c.4178A>G (p.Tyr1393Cys) c.4334A>G (p.Tyr1445Cys) | |
12 | g.51789300A>T | CA384908032 | SCN8A | c.4301A>T (p.Tyr1434Phe) c.2365A>T c.4178A>T (p.Tyr1393Phe) c.4334A>T (p.Tyr1445Phe) | |
12 | g.51789301T>A | CA384908039 | SCN8A | c.4302T>A (p.Tyr1434Ter) c.2366T>A c.4179T>A (p.Tyr1393Ter) c.4335T>A (p.Tyr1445Ter) | |
12 | g.51789301T>C | CA479794919 | SCN8A | c.4302T>C (p.Tyr1434=) c.2366T>C c.4179T>C (p.Tyr1393=) c.4335T>C (p.Tyr1445=) | |
12 | g.51789301T>G | CA384908042 | SCN8A | c.4302T>G (p.Tyr1434Ter) c.2366T>G c.4179T>G (p.Tyr1393Ter) c.4335T>G (p.Tyr1445Ter) | |
12 | g.51789302G>A | CA384908047 | SCN8A | c.4303G>A (p.Glu1435Lys) c.2367G>A c.4180G>A (p.Glu1394Lys) c.4336G>A (p.Glu1446Lys) | |
12 | g.51789302G>C | CA384908050 | SCN8A | c.4303G>C (p.Glu1435Gln) c.2367G>C c.4180G>C (p.Glu1394Gln) c.4336G>C (p.Glu1446Gln) | |
12 | g.51789302G= | CA2036172192 | SCN8A | c.4303G= (p.Glu1435=) c.2367G= c.4180G= (p.Glu1394=) c.4336G= (p.Glu1446=) | |
12 | g.51789302G>T | CA384908052 | SCN8A | c.4303G>T (p.Glu1435Ter) c.2367G>T c.4180G>T (p.Glu1394Ter) c.4336G>T (p.Glu1446Ter) | dbSNP |
12 | g.51789303_51789304del | CA2739272036 | SCN8A | c.4304_4305del (p.Glu1435GlyfsTer30) c.2368_2369del c.4181_4182del (p.Glu1394GlyfsTer30) c.4337_4338del (p.Glu1446GlyfsTer30) | ClinVar |
12 | g.51789303A= | CA2036172195 | SCN8A | c.4304A= (p.Glu1435=) c.2368A= c.4181A= (p.Glu1394=) c.4337A= (p.Glu1446=) | |
12 | g.51789303A>C | CA384908055 | SCN8A | c.4304A>C (p.Glu1435Ala) c.2368A>C c.4181A>C (p.Glu1394Ala) c.4337A>C (p.Glu1446Ala) | ClinVar dbSNP |
12 | g.51789303A>G | CA384908057 | SCN8A | c.4304A>G (p.Glu1435Gly) c.2368A>G c.4181A>G (p.Glu1394Gly) c.4337A>G (p.Glu1446Gly) | |
12 | g.51789303A>T | CA384908060 | SCN8A | c.4304A>T (p.Glu1435Val) c.2368A>T c.4181A>T (p.Glu1394Val) c.4337A>T (p.Glu1446Val) | |
12 | g.51789304G>A | CA479794923 | SCN8A | c.4305G>A (p.Glu1435=) c.2369G>A c.4182G>A (p.Glu1394=) c.4338G>A (p.Glu1446=) | ClinVar dbSNP |
12 | g.51789304G>C | CA384908064 | SCN8A | c.4305G>C (p.Glu1435Asp) c.2369G>C c.4182G>C (p.Glu1394Asp) c.4338G>C (p.Glu1446Asp) | |
12 | g.51789304G= | CA2036172201 | SCN8A | c.4305G= (p.Glu1435=) c.2369G= c.4182G= (p.Glu1394=) c.4338G= (p.Glu1446=) | |
12 | g.51789304G>T | CA384908065 | SCN8A | c.4305G>T (p.Glu1435Asp) c.2369G>T c.4182G>T (p.Glu1394Asp) c.4338G>T (p.Glu1446Asp) | |
12 | g.51789305G>A | CA384908069 | SCN8A | c.4306G>A (p.Asp1436Asn) c.2370G>A c.4183G>A (p.Asp1395Asn) c.4339G>A (p.Asp1447Asn) | |
12 | g.51789305G>C | CA384908072 | SCN8A | c.4306G>C (p.Asp1436His) c.2370G>C c.4183G>C (p.Asp1395His) c.4339G>C (p.Asp1447His) | |
12 | g.51789305G>T | CA384908068 | SCN8A | c.4306G>T (p.Asp1436Tyr) c.2370G>T c.4183G>T (p.Asp1395Tyr) c.4339G>T (p.Asp1447Tyr) | |
12 | g.51789306A>C | CA384908077 | SCN8A | c.4307A>C (p.Asp1436Ala) c.2371A>C c.4184A>C (p.Asp1395Ala) c.4340A>C (p.Asp1447Ala) | |
12 | g.51789306A>G | CA384908079 | SCN8A | c.4307A>G (p.Asp1436Gly) c.2371A>G c.4184A>G (p.Asp1395Gly) c.4340A>G (p.Asp1447Gly) | |
12 | g.51789306A>T | CA384908083 | SCN8A | c.4307A>T (p.Asp1436Val) c.2371A>T c.4184A>T (p.Asp1395Val) c.4340A>T (p.Asp1447Val) | |
12 | g.51789307C>A | CA384908091 | SCN8A | c.4308C>A (p.Asp1436Glu) c.2372C>A c.4185C>A (p.Asp1395Glu) c.4341C>A (p.Asp1447Glu) | |
12 | g.51789307C= | CA2036172203 | SCN8A | c.4308C= (p.Asp1436=) c.2372C= c.4185C= (p.Asp1395=) c.4341C= (p.Asp1447=) | |
12 | g.51789307C>G | CA384908093 | SCN8A | c.4308C>G (p.Asp1436Glu) c.2372C>G c.4185C>G (p.Asp1395Glu) c.4341C>G (p.Asp1447Glu) | |
12 | g.51789307C>T | CA479794927 | SCN8A | c.4308C>T (p.Asp1436=) c.2372C>T c.4185C>T (p.Asp1395=) c.4341C>T (p.Asp1447=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51789308A>C | CA384908103 | SCN8A | c.4309A>C (p.Asn1437His) c.2373A>C c.4186A>C (p.Asn1396His) c.4342A>C (p.Asn1448His) | |
12 | g.51789308A>G | CA384908097 | SCN8A | c.4309A>G (p.Asn1437Asp) c.2373A>G c.4186A>G (p.Asn1396Asp) c.4342A>G (p.Asn1448Asp) | |
12 | g.51789308A>T | CA384908099 | SCN8A | c.4309A>T (p.Asn1437Tyr) c.2373A>T c.4186A>T (p.Asn1396Tyr) c.4342A>T (p.Asn1448Tyr) | |
12 | g.51789309A>C | CA384908106 | SCN8A | c.4310A>C (p.Asn1437Thr) c.2374A>C c.4187A>C (p.Asn1396Thr) c.4343A>C (p.Asn1448Thr) | |
12 | g.51789309A>G | CA384908109 | SCN8A | c.4310A>G (p.Asn1437Ser) c.2374A>G c.4187A>G (p.Asn1396Ser) c.4343A>G (p.Asn1448Ser) | |
12 | g.51789309A>T | CA384908111 | SCN8A | c.4310A>T (p.Asn1437Ile) c.2374A>T c.4187A>T (p.Asn1396Ile) c.4343A>T (p.Asn1448Ile) | |
12 | g.51789310T>A | CA384908114 | SCN8A | c.4311T>A (p.Asn1437Lys) c.2375T>A c.4188T>A (p.Asn1396Lys) c.4344T>A (p.Asn1448Lys) | |
12 | g.51789310T>C | CA16614148 | SCN8A | c.4311T>C (p.Asn1437=) c.2375T>C c.4188T>C (p.Asn1396=) c.4344T>C (p.Asn1448=) | ClinVar dbSNP gnomAD v4 |
12 | g.51789310T>G | CA384908117 | SCN8A | c.4311T>G (p.Asn1437Lys) c.2375T>G c.4188T>G (p.Asn1396Lys) c.4344T>G (p.Asn1448Lys) | |
12 | g.51789310T= | CA2036172207 | SCN8A | c.4311T= (p.Asn1437=) c.2375T= c.4188T= (p.Asn1396=) c.4344T= (p.Asn1448=) | |
12 | g.51789311A= | CA2036172212 | SCN8A | c.4312A= (p.Ile1438=) c.2376A= c.4189A= (p.Ile1397=) c.4345A= (p.Ile1449=) | |
12 | g.51789311A>C | CA384908120 | SCN8A | c.4312A>C (p.Ile1438Leu) c.2376A>C c.4189A>C (p.Ile1397Leu) c.4345A>C (p.Ile1449Leu) | |
12 | g.51789311A>G | CA384908125 | SCN8A | c.4312A>G (p.Ile1438Val) c.2376A>G c.4189A>G (p.Ile1397Val) c.4345A>G (p.Ile1449Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51789311A>T | CA384908123 | SCN8A | c.4312A>T (p.Ile1438Phe) c.2376A>T c.4189A>T (p.Ile1397Phe) c.4345A>T (p.Ile1449Phe) | |
12 | g.51789312T>A | CA384908129 | SCN8A | c.4313T>A (p.Ile1438Asn) c.2377T>A c.4190T>A (p.Ile1397Asn) c.4346T>A (p.Ile1449Asn) | |
12 | g.51789312T>C | CA384908132 | SCN8A | c.4313T>C (p.Ile1438Thr) c.2377T>C c.4190T>C (p.Ile1397Thr) c.4346T>C (p.Ile1449Thr) | |
12 | g.51789312T>G | CA384908134 | SCN8A | c.4313T>G (p.Ile1438Ser) c.2377T>G c.4190T>G (p.Ile1397Ser) c.4346T>G (p.Ile1449Ser) | |
12 | g.51789313C>A | CA479794932 | SCN8A | c.4314C>A (p.Ile1438=) c.2378C>A c.4191C>A (p.Ile1397=) c.4347C>A (p.Ile1449=) | |
12 | g.51789313C= | CA2036172216 | SCN8A | c.4314C= (p.Ile1438=) c.2378C= c.4191C= (p.Ile1397=) c.4347C= (p.Ile1449=) | |
12 | g.51789313C>G | CA384908137 | SCN8A | c.4314C>G (p.Ile1438Met) c.2378C>G c.4191C>G (p.Ile1397Met) c.4347C>G (p.Ile1449Met) | |
12 | g.51789313C>T | CA479794933 | SCN8A | c.4314C>T (p.Ile1438=) c.2378C>T c.4191C>T (p.Ile1397=) c.4347C>T (p.Ile1449=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51789314T>A | CA384908138 | SCN8A | c.4315T>A (p.Tyr1439Asn) c.2379T>A c.4192T>A (p.Tyr1398Asn) c.4348T>A (p.Tyr1450Asn) | |
12 | g.51789314T>C | CA384908139 | SCN8A | c.4315T>C (p.Tyr1439His) c.2379T>C c.4192T>C (p.Tyr1398His) c.4348T>C (p.Tyr1450His) | |
12 | g.51789314T>G | CA384908140 | SCN8A | c.4315T>G (p.Tyr1439Asp) c.2379T>G c.4192T>G (p.Tyr1398Asp) c.4348T>G (p.Tyr1450Asp) | |
12 | g.51789315A>C | CA384908142 | SCN8A | c.4316A>C (p.Tyr1439Ser) c.2380A>C c.4193A>C (p.Tyr1398Ser) c.4349A>C (p.Tyr1450Ser) | |
12 | g.51789315A>G | CA384908143 | SCN8A | c.4316A>G (p.Tyr1439Cys) c.2380A>G c.4193A>G (p.Tyr1398Cys) c.4349A>G (p.Tyr1450Cys) | |
12 | g.51789315A>T | CA384908145 | SCN8A | c.4316A>T (p.Tyr1439Phe) c.2380A>T c.4193A>T (p.Tyr1398Phe) c.4349A>T (p.Tyr1450Phe) | |
12 | g.51789316C>A | CA384908147 | SCN8A | c.4317C>A (p.Tyr1439Ter) c.2381C>A c.4194C>A (p.Tyr1398Ter) c.4350C>A (p.Tyr1450Ter) | |
12 | g.51789316C>G | CA384908148 | SCN8A | c.4317C>G (p.Tyr1439Ter) c.2381C>G c.4194C>G (p.Tyr1398Ter) c.4350C>G (p.Tyr1450Ter) | |
12 | g.51789316C>T | CA479794935 | SCN8A | c.4317C>T (p.Tyr1439=) c.2381C>T c.4194C>T (p.Tyr1398=) c.4350C>T (p.Tyr1450=) | gnomAD v4 |
12 | g.51789317A>C | CA384908154 | SCN8A | c.4318A>C (p.Met1440Leu) c.2382A>C c.4195A>C (p.Met1399Leu) c.4351A>C (p.Met1451Leu) | |
12 | g.51789317A>G | CA384908162 | SCN8A | c.4318A>G (p.Met1440Val) c.2382A>G c.4195A>G (p.Met1399Val) c.4351A>G (p.Met1451Val) | |
12 | g.51789317A>T | CA384908151 | SCN8A | c.4318A>T (p.Met1440Leu) c.2382A>T c.4195A>T (p.Met1399Leu) c.4351A>T (p.Met1451Leu) | |
12 | g.51789318T>A | CA384908168 | SCN8A | c.4319T>A (p.Met1440Lys) c.2383T>A c.4196T>A (p.Met1399Lys) c.4352T>A (p.Met1451Lys) | |
12 | g.51789318T>C | CA384908165 | SCN8A | c.4319T>C (p.Met1440Thr) c.2383T>C c.4196T>C (p.Met1399Thr) c.4352T>C (p.Met1451Thr) | |
12 | g.51789318T>G | CA384908167 | SCN8A | c.4319T>G (p.Met1440Arg) c.2383T>G c.4196T>G (p.Met1399Arg) c.4352T>G (p.Met1451Arg) | |
12 | g.51789319G>A | CA384908171 | SCN8A | c.4320G>A (p.Met1440Ile) c.2384G>A c.4197G>A (p.Met1399Ile) c.4353G>A (p.Met1451Ile) | |
12 | g.51789319G>C | CA384908173 | SCN8A | c.4320G>C (p.Met1440Ile) c.2384G>C c.4197G>C (p.Met1399Ile) c.4353G>C (p.Met1451Ile) | |
12 | g.51789319G>T | CA384908175 | SCN8A | c.4320G>T (p.Met1440Ile) c.2384G>T c.4197G>T (p.Met1399Ile) c.4353G>T (p.Met1451Ile) | ClinVar |
12 | g.51789320T>A | CA384908178 | SCN8A | c.4321T>A (p.Tyr1441Asn) c.2385T>A c.4198T>A (p.Tyr1400Asn) c.4354T>A (p.Tyr1452Asn) | |
12 | g.51789320T>C | CA384908180 | SCN8A | c.4321T>C (p.Tyr1441His) c.2385T>C c.4198T>C (p.Tyr1400His) c.4354T>C (p.Tyr1452His) | |
12 | g.51789320T>G | CA384908182 | SCN8A | c.4321T>G (p.Tyr1441Asp) c.2385T>G c.4198T>G (p.Tyr1400Asp) c.4354T>G (p.Tyr1452Asp) | |
12 | g.51789321A>C | CA384908183 | SCN8A | c.4322A>C (p.Tyr1441Ser) c.2386A>C c.4199A>C (p.Tyr1400Ser) c.4355A>C (p.Tyr1452Ser) | COSMIC COSMIC |
12 | g.51789321A>G | CA384908185 | SCN8A | c.4322A>G (p.Tyr1441Cys) c.2386A>G c.4199A>G (p.Tyr1400Cys) c.4355A>G (p.Tyr1452Cys) | |
12 | g.51789321A>T | CA384908186 | SCN8A | c.4322A>T (p.Tyr1441Phe) c.2386A>T c.4199A>T (p.Tyr1400Phe) c.4355A>T (p.Tyr1452Phe) | COSMIC COSMIC |
12 | g.51789322C>A | CA384908190 | SCN8A | c.4323C>A (p.Tyr1441Ter) c.2387C>A c.4200C>A (p.Tyr1400Ter) c.4356C>A (p.Tyr1452Ter) | |
12 | g.51789322C>G | CA384908192 | SCN8A | c.4323C>G (p.Tyr1441Ter) c.2387C>G c.4200C>G (p.Tyr1400Ter) c.4356C>G (p.Tyr1452Ter) | |
12 | g.51789322C>T | CA479794938 | SCN8A | c.4323C>T (p.Tyr1441=) c.2387C>T c.4200C>T (p.Tyr1400=) c.4356C>T (p.Tyr1452=) | |
12 | g.51789323A>C | CA384908199 | SCN8A | c.4324A>C (p.Ile1442Leu) c.2388A>C c.4201A>C (p.Ile1401Leu) c.4357A>C (p.Ile1453Leu) | |
12 | g.51789323A>G | CA384908196 | SCN8A | c.4324A>G (p.Ile1442Val) c.2388A>G c.4201A>G (p.Ile1401Val) c.4357A>G (p.Ile1453Val) | gnomAD v4 |
12 | g.51789323A>T | CA384908198 | SCN8A | c.4324A>T (p.Ile1442Phe) c.2388A>T c.4201A>T (p.Ile1401Phe) c.4357A>T (p.Ile1453Phe) | |
12 | g.51789324T>A | CA384908202 | SCN8A | c.4325T>A (p.Ile1442Asn) c.2389T>A c.4202T>A (p.Ile1401Asn) c.4358T>A (p.Ile1453Asn) | |
12 | g.51789324T>C | CA384908203 | SCN8A | c.4325T>C (p.Ile1442Thr) c.2389T>C c.4202T>C (p.Ile1401Thr) c.4358T>C (p.Ile1453Thr) | ClinVar dbSNP |
12 | g.51789324T>G | CA384908209 | SCN8A | c.4325T>G (p.Ile1442Ser) c.2389T>G c.4202T>G (p.Ile1401Ser) c.4358T>G (p.Ile1453Ser) | |
12 | g.51789324T= | CA2036172219 | SCN8A | c.4325T= (p.Ile1442=) c.2389T= c.4202T= (p.Ile1401=) c.4358T= (p.Ile1453=) | |
12 | g.51789325C>A | CA479794942 | SCN8A | c.4326C>A (p.Ile1442=) c.2390C>A c.4203C>A (p.Ile1401=) c.4359C>A (p.Ile1453=) | |
12 | g.51789325C= | CA2036172220 | SCN8A | c.4326C= (p.Ile1442=) c.2390C= c.4203C= (p.Ile1401=) c.4359C= (p.Ile1453=) | |
12 | g.51789325C>G | CA384908213 | SCN8A | c.4326C>G (p.Ile1442Met) c.2390C>G c.4203C>G (p.Ile1401Met) c.4359C>G (p.Ile1453Met) | dbSNP |
12 | g.51789325C>T | CA479794941 | SCN8A | c.4326C>T (p.Ile1442=) c.2390C>T c.4203C>T (p.Ile1401=) c.4359C>T (p.Ile1453=) | |
12 | g.51789326T>A | CA384908215 | SCN8A | c.4327T>A (p.Tyr1443Asn) c.2391T>A c.4204T>A (p.Tyr1402Asn) c.4360T>A (p.Tyr1454Asn) | |
12 | g.51789326T>C | CA384908217 | SCN8A | c.4327T>C (p.Tyr1443His) c.2391T>C c.4204T>C (p.Tyr1402His) c.4360T>C (p.Tyr1454His) | |
12 | g.51789326T>G | CA384908221 | SCN8A | c.4327T>G (p.Tyr1443Asp) c.2391T>G c.4204T>G (p.Tyr1402Asp) c.4360T>G (p.Tyr1454Asp) | |
12 | g.51789327A>C | CA384908225 | SCN8A | c.4328A>C (p.Tyr1443Ser) c.2392A>C c.4205A>C (p.Tyr1402Ser) c.4361A>C (p.Tyr1454Ser) | |
12 | g.51789327A>G | CA384908229 | SCN8A | c.4328A>G (p.Tyr1443Cys) c.2392A>G c.4205A>G (p.Tyr1402Cys) c.4361A>G (p.Tyr1454Cys) | ClinVar dbSNP |
12 | g.51789327A>T | CA384908232 | SCN8A | c.4328A>T (p.Tyr1443Phe) c.2392A>T c.4205A>T (p.Tyr1402Phe) c.4361A>T (p.Tyr1454Phe) | |
12 | g.51789328T>A | CA384908234 | SCN8A | c.4329T>A (p.Tyr1443Ter) c.2393T>A c.4206T>A (p.Tyr1402Ter) c.4362T>A (p.Tyr1454Ter) | |
12 | g.51789328T>C | CA479794944 | SCN8A | c.4329T>C (p.Tyr1443=) c.2393T>C c.4206T>C (p.Tyr1402=) c.4362T>C (p.Tyr1454=) | dbSNP |
12 | g.51789328T>G | CA384908237 | SCN8A | c.4329T>G (p.Tyr1443Ter) c.2393T>G c.4206T>G (p.Tyr1402Ter) c.4362T>G (p.Tyr1454Ter) | |
12 | g.51789329T>A | CA384908245 | SCN8A | c.4330T>A (p.Phe1444Ile) c.2394T>A c.4207T>A (p.Phe1403Ile) c.4363T>A (p.Phe1455Ile) | |
12 | g.51789329T>C | CA384908243 | SCN8A | c.4330T>C (p.Phe1444Leu) c.2394T>C c.4207T>C (p.Phe1403Leu) c.4363T>C (p.Phe1455Leu) | |
12 | g.51789329T>G | CA384908241 | SCN8A | c.4330T>G (p.Phe1444Val) c.2394T>G c.4207T>G (p.Phe1403Val) c.4363T>G (p.Phe1455Val) | |
12 | g.51789330T>A | CA384908253 | SCN8A | c.4331T>A (p.Phe1444Tyr) c.2395T>A c.4208T>A (p.Phe1403Tyr) c.4364T>A (p.Phe1455Tyr) | |
12 | g.51789330T>C | CA384908248 | SCN8A | c.4331T>C (p.Phe1444Ser) c.2395T>C c.4208T>C (p.Phe1403Ser) c.4364T>C (p.Phe1455Ser) | |
12 | g.51789330T>G | CA384908249 | SCN8A | c.4331T>G (p.Phe1444Cys) c.2395T>G c.4208T>G (p.Phe1403Cys) c.4364T>G (p.Phe1455Cys) | |
12 | g.51789331T>A | CA384908257 | SCN8A | c.4332T>A (p.Phe1444Leu) c.2396T>A c.4209T>A (p.Phe1403Leu) c.4365T>A (p.Phe1455Leu) | |
12 | g.51789331T>C | CA6571797 | SCN8A | c.4332T>C (p.Phe1444=) c.2396T>C c.4209T>C (p.Phe1403=) c.4365T>C (p.Phe1455=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51789331T>G | CA384908263 | SCN8A | c.4332T>G (p.Phe1444Leu) c.2396T>G c.4209T>G (p.Phe1403Leu) c.4365T>G (p.Phe1455Leu) | |
12 | g.51789331T= | CA2036172223 | SCN8A | c.4332T= (p.Phe1444=) c.2396T= c.4209T= (p.Phe1403=) c.4365T= (p.Phe1455=) | |
12 | g.51789332G>A | CA384908272 | SCN8A | c.4333G>A (p.Val1445Ile) c.2397G>A c.4210G>A (p.Val1404Ile) c.4366G>A (p.Val1456Ile) | COSMIC COSMIC |
12 | g.51789332G>C | CA384908269 | SCN8A | c.4333G>C (p.Val1445Leu) c.2397G>C c.4210G>C (p.Val1404Leu) c.4366G>C (p.Val1456Leu) | |
12 | g.51789332G>T | CA384908266 | SCN8A | c.4333G>T (p.Val1445Phe) c.2397G>T c.4210G>T (p.Val1404Phe) c.4366G>T (p.Val1456Phe) | |
12 | g.51789333T>A | CA384908276 | SCN8A | c.4334T>A (p.Val1445Asp) c.2398T>A c.4211T>A (p.Val1404Asp) c.4367T>A (p.Val1456Asp) | |
12 | g.51789333T>C | CA384908279 | SCN8A | c.4334T>C (p.Val1445Ala) c.2398T>C c.4211T>C (p.Val1404Ala) c.4367T>C (p.Val1456Ala) | |
12 | g.51789333T>G | CA384908281 | SCN8A | c.4334T>G (p.Val1445Gly) c.2398T>G c.4211T>G (p.Val1404Gly) c.4367T>G (p.Val1456Gly) | |
12 | g.51789334C>A | CA479794947 | SCN8A | c.4335C>A (p.Val1445=) c.2399C>A c.4212C>A (p.Val1404=) c.4368C>A (p.Val1456=) | |
12 | g.51789334C>G | CA479794949 | SCN8A | c.4335C>G (p.Val1445=) c.2399C>G c.4212C>G (p.Val1404=) c.4368C>G (p.Val1456=) | |
12 | g.51789334C>T | CA479794950 | SCN8A | c.4335C>T (p.Val1445=) c.2399C>T c.4212C>T (p.Val1404=) c.4368C>T (p.Val1456=) | |
12 | g.51789335A>C | CA384908286 | SCN8A | c.4336A>C (p.Ile1446Leu) c.2400A>C c.4213A>C (p.Ile1405Leu) c.4369A>C (p.Ile1457Leu) | |
12 | g.51789335A>G | CA384908287 | SCN8A | c.4336A>G (p.Ile1446Val) c.2400A>G c.4213A>G (p.Ile1405Val) c.4369A>G (p.Ile1457Val) | |
12 | g.51789335A>T | CA384908288 | SCN8A | c.4336A>T (p.Ile1446Phe) c.2400A>T c.4213A>T (p.Ile1405Phe) c.4369A>T (p.Ile1457Phe) | |
12 | g.51789336T>A | CA384908291 | SCN8A | c.4337T>A (p.Ile1446Asn) c.2401T>A c.4214T>A (p.Ile1405Asn) c.4370T>A (p.Ile1457Asn) | |
12 | g.51789336T>C | CA384908294 | SCN8A | c.4337T>C (p.Ile1446Thr) c.2401T>C c.4214T>C (p.Ile1405Thr) c.4370T>C (p.Ile1457Thr) | |
12 | g.51789336T>G | CA384908293 | SCN8A | c.4337T>G (p.Ile1446Ser) c.2401T>G c.4214T>G (p.Ile1405Ser) c.4370T>G (p.Ile1457Ser) | |
12 | g.51789337C>A | CA479794953 | SCN8A | c.4338C>A (p.Ile1446=) c.2402C>A c.4215C>A (p.Ile1405=) c.4371C>A (p.Ile1457=) | |
12 | g.51789337C>G | CA384908295 | SCN8A | c.4338C>G (p.Ile1446Met) c.2402C>G c.4215C>G (p.Ile1405Met) c.4371C>G (p.Ile1457Met) | |
12 | g.51789337C>T | CA479794954 | SCN8A | c.4338C>T (p.Ile1446=) c.2402C>T c.4215C>T (p.Ile1405=) c.4371C>T (p.Ile1457=) | ClinVar |
12 | g.51789338T>A | CA384908296 | SCN8A | c.4339T>A (p.Phe1447Ile) c.2403T>A c.4216T>A (p.Phe1406Ile) c.4372T>A (p.Phe1458Ile) | |
12 | g.51789338T>C | CA384908297 | SCN8A | c.4339T>C (p.Phe1447Leu) c.2403T>C c.4216T>C (p.Phe1406Leu) c.4372T>C (p.Phe1458Leu) | |
12 | g.51789338T>G | CA384908299 | SCN8A | c.4339T>G (p.Phe1447Val) c.2403T>G c.4216T>G (p.Phe1406Val) c.4372T>G (p.Phe1458Val) | |
12 | g.51789339T>A | CA384908302 | SCN8A | c.4340T>A (p.Phe1447Tyr) c.2404T>A c.4217T>A (p.Phe1406Tyr) c.4373T>A (p.Phe1458Tyr) | |
12 | g.51789339T>C | CA384908304 | SCN8A | c.4340T>C (p.Phe1447Ser) c.2404T>C c.4217T>C (p.Phe1406Ser) c.4373T>C (p.Phe1458Ser) | |
12 | g.51789339T>G | CA384908307 | SCN8A | c.4340T>G (p.Phe1447Cys) c.2404T>G c.4217T>G (p.Phe1406Cys) c.4373T>G (p.Phe1458Cys) | |
12 | g.51789340C>A | CA384908308 | SCN8A | c.4341C>A (p.Phe1447Leu) c.2405C>A c.4218C>A (p.Phe1406Leu) c.4374C>A (p.Phe1458Leu) | |
12 | g.51789340C= | CA2036172228 | SCN8A | c.4341C= (p.Phe1447=) c.2405C= c.4218C= (p.Phe1406=) c.4374C= (p.Phe1458=) | |
12 | g.51789340C>G | CA384908309 | SCN8A | c.4341C>G (p.Phe1447Leu) c.2405C>G c.4218C>G (p.Phe1406Leu) c.4374C>G (p.Phe1458Leu) | |
12 | g.51789340C>T | CA479794959 | SCN8A | c.4341C>T (p.Phe1447=) c.2405C>T c.4218C>T (p.Phe1406=) c.4374C>T (p.Phe1458=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51789341A= | CA2036172235 | SCN8A | c.4342A= (p.Ile1448=) c.2406A= c.4219A= (p.Ile1407=) c.4375A= (p.Ile1459=) | |
12 | g.51789341A>C | CA384908310 | SCN8A | c.4342A>C (p.Ile1448Leu) c.2406A>C c.4219A>C (p.Ile1407Leu) c.4375A>C (p.Ile1459Leu) | ClinVar dbSNP |
12 | g.51789341A>G | CA384908312 | SCN8A | c.4342A>G (p.Ile1448Val) c.2406A>G c.4219A>G (p.Ile1407Val) c.4375A>G (p.Ile1459Val) | ClinVar dbSNP gnomAD v4 |
12 | g.51789341A>T | CA384908314 | SCN8A | c.4342A>T (p.Ile1448Phe) c.2406A>T c.4219A>T (p.Ile1407Phe) c.4375A>T (p.Ile1459Phe) | |
12 | g.51789342T>A | CA384908318 | SCN8A | c.4343T>A (p.Ile1448Asn) c.2407T>A c.4220T>A (p.Ile1407Asn) c.4376T>A (p.Ile1459Asn) | |
12 | g.51789342T>C | CA384908319 | SCN8A | c.4343T>C (p.Ile1448Thr) c.2407T>C c.4220T>C (p.Ile1407Thr) c.4376T>C (p.Ile1459Thr) | gnomAD v4 |
12 | g.51789342T>G | CA384908317 | SCN8A | c.4343T>G (p.Ile1448Ser) c.2407T>G c.4220T>G (p.Ile1407Ser) c.4376T>G (p.Ile1459Ser) | |
12 | g.51789343C>A | CA479794960 | SCN8A | c.4344C>A (p.Ile1448=) c.2408C>A c.4221C>A (p.Ile1407=) c.4377C>A (p.Ile1459=) | |
12 | g.51789343C>G | CA384908321 | SCN8A | c.4344C>G (p.Ile1448Met) c.2408C>G c.4221C>G (p.Ile1407Met) c.4377C>G (p.Ile1459Met) | |
12 | g.51789343C>T | CA479794962 | SCN8A | c.4344C>T (p.Ile1448=) c.2408C>T c.4221C>T (p.Ile1407=) c.4377C>T (p.Ile1459=) | ClinVar dbSNP |
12 | g.51789344A>C | CA384908329 | SCN8A | c.4345A>C (p.Ile1449Leu) c.2409A>C c.4222A>C (p.Ile1408Leu) c.4378A>C (p.Ile1460Leu) | |
12 | g.51789344A>G | CA384908323 | SCN8A | c.4345A>G (p.Ile1449Val) c.2409A>G c.4222A>G (p.Ile1408Val) c.4378A>G (p.Ile1460Val) | |
12 | g.51789344A>T | CA384908326 | SCN8A | c.4345A>T (p.Ile1449Phe) c.2409A>T c.4222A>T (p.Ile1408Phe) c.4378A>T (p.Ile1460Phe) | |
12 | g.51789345T>A | CA384908330 | SCN8A | c.4346T>A (p.Ile1449Asn) c.2410T>A c.4223T>A (p.Ile1408Asn) c.4379T>A (p.Ile1460Asn) | |
12 | g.51789345T>C | CA384908333 | SCN8A | c.4346T>C (p.Ile1449Thr) c.2410T>C c.4223T>C (p.Ile1408Thr) c.4379T>C (p.Ile1460Thr) | |
12 | g.51789345T>G | CA384908334 | SCN8A | c.4346T>G (p.Ile1449Ser) c.2410T>G c.4223T>G (p.Ile1408Ser) c.4379T>G (p.Ile1460Ser) | |
12 | g.51789346C>A | CA479794965 | SCN8A | c.4347C>A (p.Ile1449=) c.2411C>A c.4224C>A (p.Ile1408=) c.4380C>A (p.Ile1460=) | |
12 | g.51789346C>G | CA384908337 | SCN8A | c.4347C>G (p.Ile1449Met) c.2411C>G c.4224C>G (p.Ile1408Met) c.4380C>G (p.Ile1460Met) | |
12 | g.51789346C>T | CA479794964 | SCN8A | c.4347C>T (p.Ile1449=) c.2411C>T c.4224C>T (p.Ile1408=) c.4380C>T (p.Ile1460=) | |
12 | g.51789347T>A | CA384908343 | SCN8A | c.4348T>A (p.Phe1450Ile) c.2412T>A c.4225T>A (p.Phe1409Ile) c.4381T>A (p.Phe1461Ile) | |
12 | g.51789347T>C | CA384908345 | SCN8A | c.4348T>C (p.Phe1450Leu) c.2412T>C c.4225T>C (p.Phe1409Leu) c.4381T>C (p.Phe1461Leu) | |
12 | g.51789347T>G | CA384908348 | SCN8A | c.4348T>G (p.Phe1450Val) c.2412T>G c.4225T>G (p.Phe1409Val) c.4381T>G (p.Phe1461Val) | |
12 | g.51789348T>A | CA384908352 | SCN8A | c.4349T>A (p.Phe1450Tyr) c.2413T>A c.4226T>A (p.Phe1409Tyr) c.4382T>A (p.Phe1461Tyr) | |
12 | g.51789348T>C | CA384908356 | SCN8A | c.4349T>C (p.Phe1450Ser) c.2413T>C c.4226T>C (p.Phe1409Ser) c.4382T>C (p.Phe1461Ser) | |
12 | g.51789348T>G | CA384908359 | SCN8A | c.4349T>G (p.Phe1450Cys) c.2413T>G c.4226T>G (p.Phe1409Cys) c.4382T>G (p.Phe1461Cys) | |
12 | g.51789349C>A | CA384908367 | SCN8A | c.4350C>A (p.Phe1450Leu) c.2414C>A c.4227C>A (p.Phe1409Leu) c.4383C>A (p.Phe1461Leu) | |
12 | g.51789349C= | CA2036172239 | SCN8A | c.4350C= (p.Phe1450=) c.2414C= c.4227C= (p.Phe1409=) c.4383C= (p.Phe1461=) | |
12 | g.51789349C>G | CA384908364 | SCN8A | c.4350C>G (p.Phe1450Leu) c.2414C>G c.4227C>G (p.Phe1409Leu) c.4383C>G (p.Phe1461Leu) | |
12 | g.51789349C>T | CA6571798 | SCN8A | c.4350C>T (p.Phe1450=) c.2414C>T c.4227C>T (p.Phe1409=) c.4383C>T (p.Phe1461=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51789350G>A | CA278916 | SCN8A | c.4351G>A (p.Gly1451Ser) c.2415G>A c.4228G>A (p.Gly1410Ser) c.4384G>A (p.Gly1462Ser) | ClinVar dbSNP |
12 | g.51789350G>C | CA384908375 | SCN8A | c.4351G>C (p.Gly1451Arg) c.2415G>C c.4228G>C (p.Gly1410Arg) c.4384G>C (p.Gly1462Arg) | |
12 | g.51789350G= | CA2036172245 | SCN8A | c.4351G= (p.Gly1451=) c.2415G= c.4228G= (p.Gly1410=) c.4384G= (p.Gly1462=) | |
12 | g.51789350G>T | CA384908379 | SCN8A | c.4351G>T (p.Gly1451Cys) c.2415G>T c.4228G>T (p.Gly1410Cys) c.4384G>T (p.Gly1462Cys) | |
12 | g.51789351G>A | CA384908383 | SCN8A | c.4352G>A (p.Gly1451Asp) c.2416G>A c.4229G>A (p.Gly1410Asp) c.4385G>A (p.Gly1462Asp) | |
12 | g.51789351G>C | CA384908386 | SCN8A | c.4352G>C (p.Gly1451Ala) c.2416G>C c.4229G>C (p.Gly1410Ala) c.4385G>C (p.Gly1462Ala) | |
12 | g.51789351G>T | CA384908388 | SCN8A | c.4352G>T (p.Gly1451Val) c.2416G>T c.4229G>T (p.Gly1410Val) c.4385G>T (p.Gly1462Val) | |
12 | g.51789352C>A | CA479794969 | SCN8A | c.4353C>A (p.Gly1451=) c.2417C>A c.4230C>A (p.Gly1410=) c.4386C>A (p.Gly1462=) | |
12 | g.51789352C>G | CA479794970 | SCN8A | c.4353C>G (p.Gly1451=) c.2417C>G c.4230C>G (p.Gly1410=) c.4386C>G (p.Gly1462=) | |
12 | g.51789352C>T | CA479794971 | SCN8A | c.4353C>T (p.Gly1451=) c.2417C>T c.4230C>T (p.Gly1410=) c.4386C>T (p.Gly1462=) | ClinVar |
12 | g.51789353T>A | CA384908393 | SCN8A | c.4354T>A (p.Ser1452Thr) c.2418T>A c.4231T>A (p.Ser1411Thr) c.4387T>A (p.Ser1463Thr) | |
12 | g.51789353T>C | CA384908394 | SCN8A | c.4354T>C (p.Ser1452Pro) c.2418T>C c.4231T>C (p.Ser1411Pro) c.4387T>C (p.Ser1463Pro) | |
12 | g.51789353T>G | CA384908397 | SCN8A | c.4354T>G (p.Ser1452Ala) c.2418T>G c.4231T>G (p.Ser1411Ala) c.4387T>G (p.Ser1463Ala) | |
12 | g.51789354C>A | CA384908400 | SCN8A | c.4355C>A (p.Ser1452Tyr) c.2419C>A c.4232C>A (p.Ser1411Tyr) c.4388C>A (p.Ser1463Tyr) | |
12 | g.51789354C>G | CA384908403 | SCN8A | c.4355C>G (p.Ser1452Cys) c.2419C>G c.4232C>G (p.Ser1411Cys) c.4388C>G (p.Ser1463Cys) | |
12 | g.51789354C>T | CA384908405 | SCN8A | c.4355C>T (p.Ser1452Phe) c.2419C>T c.4232C>T (p.Ser1411Phe) c.4388C>T (p.Ser1463Phe) | |
12 | g.51789355C>A | CA479794975 | SCN8A | c.4356C>A (p.Ser1452=) c.2420C>A c.4233C>A (p.Ser1411=) c.4389C>A (p.Ser1463=) | |
12 | g.51789355C>G | CA479794976 | SCN8A | c.4356C>G (p.Ser1452=) c.2420C>G c.4233C>G (p.Ser1411=) c.4389C>G (p.Ser1463=) | gnomAD v4 |
12 | g.51789355C>T | CA479794977 | SCN8A | c.4356C>T (p.Ser1452=) c.2420C>T c.4233C>T (p.Ser1411=) c.4389C>T (p.Ser1463=) | |
12 | g.51789359_51789361del | CA2580615201 | SCN8A | c.4360_4362del (p.Phe1454del) c.2424_2426del c.4237_4239del (p.Phe1413del) c.4393_4395del (p.Phe1465del) | ClinVar dbSNP |
12 | g.51789356T>A | CA384908415 | SCN8A | c.4357T>A (p.Phe1453Ile) c.2421T>A c.4234T>A (p.Phe1412Ile) c.4390T>A (p.Phe1464Ile) | |
12 | g.51789356T>C | CA384908411 | SCN8A | c.4357T>C (p.Phe1453Leu) c.2421T>C c.4234T>C (p.Phe1412Leu) c.4390T>C (p.Phe1464Leu) | |
12 | g.51789356T>G | CA384908409 | SCN8A | c.4357T>G (p.Phe1453Val) c.2421T>G c.4234T>G (p.Phe1412Val) c.4390T>G (p.Phe1464Val) | |
12 | g.51789357T>A | CA384908419 | SCN8A | c.4358T>A (p.Phe1453Tyr) c.2422T>A c.4235T>A (p.Phe1412Tyr) c.4391T>A (p.Phe1464Tyr) | |
12 | g.51789357T>C | CA384908422 | SCN8A | c.4358T>C (p.Phe1453Ser) c.2422T>C c.4235T>C (p.Phe1412Ser) c.4391T>C (p.Phe1464Ser) | |
12 | g.51789357T>G | CA384908425 | SCN8A | c.4358T>G (p.Phe1453Cys) c.2422T>G c.4235T>G (p.Phe1412Cys) c.4391T>G (p.Phe1464Cys) | |
12 | g.51789358C>A | CA384908428 | SCN8A | c.4359C>A (p.Phe1453Leu) c.2423C>A c.4236C>A (p.Phe1412Leu) c.4392C>A (p.Phe1464Leu) | |
12 | g.51789358C= | CA2036172253 | SCN8A | c.4359C= (p.Phe1453=) c.2423C= c.4236C= (p.Phe1412=) c.4392C= (p.Phe1464=) | |
12 | g.51789358C>G | CA384908430 | SCN8A | c.4359C>G (p.Phe1453Leu) c.2423C>G c.4236C>G (p.Phe1412Leu) c.4392C>G (p.Phe1464Leu) | |
12 | g.51789358C>T | CA6571799 | SCN8A | c.4359C>T (p.Phe1453=) c.2423C>T c.4236C>T (p.Phe1412=) c.4392C>T (p.Phe1464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51789360_51789366dup | CA645591094 | SCN8A | c.4361_4367dup (p.Asn1457HisfsTer11) c.2425_2431dup c.4238_4244dup (p.Asn1416HisfsTer11) c.4394_4400dup (p.Asn1468HisfsTer11) | COSMIC COSMIC |
12 | g.51789359T>A | CA384908441 | SCN8A | c.4360T>A (p.Phe1454Ile) c.2424T>A c.4237T>A (p.Phe1413Ile) c.4393T>A (p.Phe1465Ile) | |
12 | g.51789359T>C | CA384908436 | SCN8A | c.4360T>C (p.Phe1454Leu) c.2424T>C c.4237T>C (p.Phe1413Leu) c.4393T>C (p.Phe1465Leu) | |
12 | g.51789359T>G | CA384908438 | SCN8A | c.4360T>G (p.Phe1454Val) c.2424T>G c.4237T>G (p.Phe1413Val) c.4393T>G (p.Phe1465Val) | |
12 | g.51789360T>A | CA384908445 | SCN8A | c.4361T>A (p.Phe1454Tyr) c.2425T>A c.4238T>A (p.Phe1413Tyr) c.4394T>A (p.Phe1465Tyr) | |
12 | g.51789360T>C | CA384908448 | SCN8A | c.4361T>C (p.Phe1454Ser) c.2425T>C c.4238T>C (p.Phe1413Ser) c.4394T>C (p.Phe1465Ser) | |
12 | g.51789360T>G | CA384908450 | SCN8A | c.4361T>G (p.Phe1454Cys) c.2425T>G c.4238T>G (p.Phe1413Cys) c.4394T>G (p.Phe1465Cys) | |
12 | g.51789361C>A | CA384908453 | SCN8A | c.4362C>A (p.Phe1454Leu) c.2426C>A c.4239C>A (p.Phe1413Leu) c.4395C>A (p.Phe1465Leu) | |
12 | g.51789361C>G | CA384908456 | SCN8A | c.4362C>G (p.Phe1454Leu) c.2426C>G c.4239C>G (p.Phe1413Leu) c.4395C>G (p.Phe1465Leu) | |
12 | g.51789361C>T | CA479794982 | SCN8A | c.4362C>T (p.Phe1454=) c.2426C>T c.4239C>T (p.Phe1413=) c.4395C>T (p.Phe1465=) | ClinVar gnomAD v4 |
12 | g.51789362A>C | CA384908462 | SCN8A | c.4363A>C (p.Thr1455Pro) c.2427A>C c.4240A>C (p.Thr1414Pro) c.4396A>C (p.Thr1466Pro) | |
12 | g.51789362A>G | CA384908466 | SCN8A | c.4363A>G (p.Thr1455Ala) c.2427A>G c.4240A>G (p.Thr1414Ala) c.4396A>G (p.Thr1466Ala) | |
12 | g.51789362A>T | CA384908464 | SCN8A | c.4363A>T (p.Thr1455Ser) c.2427A>T c.4240A>T (p.Thr1414Ser) c.4396A>T (p.Thr1466Ser) | |
12 | g.51789363C>A | CA384908469 | SCN8A | c.4364C>A (p.Thr1455Asn) c.2428C>A c.4241C>A (p.Thr1414Asn) c.4397C>A (p.Thr1466Asn) | |
12 | g.51789363C>G | CA384908471 | SCN8A | c.4364C>G (p.Thr1455Ser) c.2428C>G c.4241C>G (p.Thr1414Ser) c.4397C>G (p.Thr1466Ser) | |
12 | g.51789363C>T | CA384908473 | SCN8A | c.4364C>T (p.Thr1455Ile) c.2428C>T c.4241C>T (p.Thr1414Ile) c.4397C>T (p.Thr1466Ile) | |
12 | g.51789364C>A | CA479794986 | SCN8A | c.4365C>A (p.Thr1455=) c.2429C>A c.4242C>A (p.Thr1414=) c.4398C>A (p.Thr1466=) | |
12 | g.51789364C= | CA2036172256 | SCN8A | c.4365C= (p.Thr1455=) c.2429C= c.4242C= (p.Thr1414=) c.4398C= (p.Thr1466=) | |
12 | g.51789364C>G | CA479794987 | SCN8A | c.4365C>G (p.Thr1455=) c.2429C>G c.4242C>G (p.Thr1414=) c.4398C>G (p.Thr1466=) | |
12 | g.51789364C>T | CA479794988 | SCN8A | c.4365C>T (p.Thr1455=) c.2429C>T c.4242C>T (p.Thr1414=) c.4398C>T (p.Thr1466=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51789365C>A | CA384908476 | SCN8A | c.4366C>A (p.Leu1456Met) c.2430C>A c.4243C>A (p.Leu1415Met) c.4399C>A (p.Leu1467Met) | |
12 | g.51789365C>G | CA384908480 | SCN8A | c.4366C>G (p.Leu1456Val) c.2430C>G c.4243C>G (p.Leu1415Val) c.4399C>G (p.Leu1467Val) | |
12 | g.51789365C>T | CA479794989 | SCN8A | c.4366C>T (p.Leu1456=) c.2430C>T c.4243C>T (p.Leu1415=) c.4399C>T (p.Leu1467=) | |
12 | g.51789366T>A | CA384908481 | SCN8A | c.4367T>A (p.Leu1456Gln) c.2431T>A c.4244T>A (p.Leu1415Gln) c.4400T>A (p.Leu1467Gln) | |
12 | g.51789366T>C | CA384908482 | SCN8A | c.4367T>C (p.Leu1456Pro) c.2431T>C c.4244T>C (p.Leu1415Pro) c.4400T>C (p.Leu1467Pro) | |
12 | g.51789366T>G | CA384908483 | SCN8A | c.4367T>G (p.Leu1456Arg) c.2431T>G c.4244T>G (p.Leu1415Arg) c.4400T>G (p.Leu1467Arg) | |
12 | g.51789367G>A | CA479794990 | SCN8A | c.4368G>A (p.Leu1456=) c.2432G>A c.4245G>A (p.Leu1415=) c.4401G>A (p.Leu1467=) | |
12 | g.51789367G>C | CA479794991 | SCN8A | c.4368G>C (p.Leu1456=) c.2432G>C c.4245G>C (p.Leu1415=) c.4401G>C (p.Leu1467=) | |
12 | g.51789367G>T | CA479794992 | SCN8A | c.4368G>T (p.Leu1456=) c.2432G>T c.4245G>T (p.Leu1415=) c.4401G>T (p.Leu1467=) | |
12 | g.51789368A>C | CA384908484 | SCN8A | c.4369A>C (p.Asn1457His) c.2433A>C c.4246A>C (p.Asn1416His) c.4402A>C (p.Asn1468His) | |
12 | g.51789368A>G | CA384908485 | SCN8A | c.4369A>G (p.Asn1457Asp) c.2433A>G c.4246A>G (p.Asn1416Asp) c.4402A>G (p.Asn1468Asp) | |
12 | g.51789368A>T | CA384908487 | SCN8A | c.4369A>T (p.Asn1457Tyr) c.2433A>T c.4246A>T (p.Asn1416Tyr) c.4402A>T (p.Asn1468Tyr) | |
12 | g.51789369A>C | CA384908489 | SCN8A | c.4370A>C (p.Asn1457Thr) c.2434A>C c.4247A>C (p.Asn1416Thr) c.4403A>C (p.Asn1468Thr) | |
12 | g.51789369A>G | CA384908494 | SCN8A | c.4370A>G (p.Asn1457Ser) c.2434A>G c.4247A>G (p.Asn1416Ser) c.4403A>G (p.Asn1468Ser) | |
12 | g.51789369A>T | CA384908491 | SCN8A | c.4370A>T (p.Asn1457Ile) c.2434A>T c.4247A>T (p.Asn1416Ile) c.4403A>T (p.Asn1468Ile) | |
12 | g.51789370C>A | CA384908496 | SCN8A | c.4371C>A (p.Asn1457Lys) c.2435C>A c.4248C>A (p.Asn1416Lys) c.4404C>A (p.Asn1468Lys) | ClinVar dbSNP |
12 | g.51789370C>G | CA384908499 | SCN8A | c.4371C>G (p.Asn1457Lys) c.2435C>G c.4248C>G (p.Asn1416Lys) c.4404C>G (p.Asn1468Lys) | |
12 | g.51789370C>T | CA479794995 | SCN8A | c.4371C>T (p.Asn1457=) c.2435C>T c.4248C>T (p.Asn1416=) c.4404C>T (p.Asn1468=) | |
12 | g.51789371C>A | CA384908502 | SCN8A | c.4372C>A (p.Leu1458Met) c.2436C>A c.4249C>A (p.Leu1417Met) c.4405C>A (p.Leu1469Met) | |
12 | g.51789371C>G | CA384908504 | SCN8A | c.4372C>G (p.Leu1458Val) c.2436C>G c.4249C>G (p.Leu1417Val) c.4405C>G (p.Leu1469Val) | |
12 | g.51789371C>T | CA479794996 | SCN8A | c.4372C>T (p.Leu1458=) c.2436C>T c.4249C>T (p.Leu1417=) c.4405C>T (p.Leu1469=) | |
12 | g.51789372T>A | CA384908507 | SCN8A | c.4373T>A (p.Leu1458Gln) c.2437T>A c.4250T>A (p.Leu1417Gln) c.4406T>A (p.Leu1469Gln) | |
12 | g.51789372T>C | CA384908509 | SCN8A | c.4373T>C (p.Leu1458Pro) c.2437T>C c.4250T>C (p.Leu1417Pro) c.4406T>C (p.Leu1469Pro) | |
12 | g.51789372T>G | CA384908511 | SCN8A | c.4373T>G (p.Leu1458Arg) c.2437T>G c.4250T>G (p.Leu1417Arg) c.4406T>G (p.Leu1469Arg) | |
12 | g.51789373G>A | CA6571800 | SCN8A | c.4374G>A (p.Leu1458=) c.2438G>A c.4251G>A (p.Leu1417=) c.4407G>A (p.Leu1469=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51789373G>C | CA479794998 | SCN8A | c.4374G>C (p.Leu1458=) c.2438G>C c.4251G>C (p.Leu1417=) c.4407G>C (p.Leu1469=) | |
12 | g.51789373G= | CA2036172258 | SCN8A | c.4374G= (p.Leu1458=) c.2438G= c.4251G= (p.Leu1417=) c.4407G= (p.Leu1469=) | |
12 | g.51789373G>T | CA479794997 | SCN8A | c.4374G>T (p.Leu1458=) c.2438G>T c.4251G>T (p.Leu1417=) c.4407G>T (p.Leu1469=) | |
12 | g.51789374T>A | CA384908515 | SCN8A | c.4375T>A (p.Phe1459Ile) c.2439T>A c.4252T>A (p.Phe1418Ile) c.4408T>A (p.Phe1470Ile) | |
12 | g.51789374T>C | CA384908517 | SCN8A | c.4375T>C (p.Phe1459Leu) c.2439T>C c.4252T>C (p.Phe1418Leu) c.4408T>C (p.Phe1470Leu) | |
12 | g.51789374T>G | CA384908518 | SCN8A | c.4375T>G (p.Phe1459Val) c.2439T>G c.4252T>G (p.Phe1418Val) c.4408T>G (p.Phe1470Val) | |
12 | g.51789375T>A | CA384908519 | SCN8A | c.4376T>A (p.Phe1459Tyr) c.2440T>A c.4253T>A (p.Phe1418Tyr) c.4409T>A (p.Phe1470Tyr) | |
12 | g.51789375T>C | CA384908520 | SCN8A | c.4376T>C (p.Phe1459Ser) c.2440T>C c.4253T>C (p.Phe1418Ser) c.4409T>C (p.Phe1470Ser) | |
12 | g.51789375T>G | CA384908521 | SCN8A | c.4376T>G (p.Phe1459Cys) c.2440T>G c.4253T>G (p.Phe1418Cys) c.4409T>G (p.Phe1470Cys) | |
12 | g.51789376C>A | CA384908522 | SCN8A | c.4377C>A (p.Phe1459Leu) c.2441C>A c.4254C>A (p.Phe1418Leu) c.4410C>A (p.Phe1470Leu) | |
12 | g.51789376C>G | CA384908523 | SCN8A | c.4377C>G (p.Phe1459Leu) c.2441C>G c.4254C>G (p.Phe1418Leu) c.4410C>G (p.Phe1470Leu) | ClinVar |
12 | g.51789376C>T | CA479795000 | SCN8A | c.4377C>T (p.Phe1459=) c.2441C>T c.4254C>T (p.Phe1418=) c.4410C>T (p.Phe1470=) | COSMIC COSMIC |
12 | g.51789377A>C | CA384908524 | SCN8A | c.4378A>C (p.Ile1460Leu) c.2442A>C c.4255A>C (p.Ile1419Leu) c.4411A>C (p.Ile1471Leu) | |
12 | g.51789377A>G | CA384908526 | SCN8A | c.4378A>G (p.Ile1460Val) c.2442A>G c.4255A>G (p.Ile1419Val) c.4411A>G (p.Ile1471Val) | ClinVar dbSNP |
12 | g.51789377A>T | CA384908525 | SCN8A | c.4378A>T (p.Ile1460Phe) c.2442A>T c.4255A>T (p.Ile1419Phe) c.4411A>T (p.Ile1471Phe) | COSMIC COSMIC |
12 | g.51789378T>A | CA384908527 | SCN8A | c.4379T>A (p.Ile1460Asn) c.2443T>A c.4256T>A (p.Ile1419Asn) c.4412T>A (p.Ile1471Asn) | |
12 | g.51789378T>C | CA384908528 | SCN8A | c.4379T>C (p.Ile1460Thr) c.2443T>C c.4256T>C (p.Ile1419Thr) c.4412T>C (p.Ile1471Thr) | |
12 | g.51789378T>G | CA384908529 | SCN8A | c.4379T>G (p.Ile1460Ser) c.2443T>G c.4256T>G (p.Ile1419Ser) c.4412T>G (p.Ile1471Ser) | |
12 | g.51789379T>A | CA479795003 | SCN8A | c.4380T>A (p.Ile1460=) c.2444T>A c.4257T>A (p.Ile1419=) c.4413T>A (p.Ile1471=) | |
12 | g.51789379T>C | CA479795006 | SCN8A | c.4380T>C (p.Ile1460=) c.2444T>C c.4257T>C (p.Ile1419=) c.4413T>C (p.Ile1471=) | |
12 | g.51789379T>G | CA384908530 | SCN8A | c.4380T>G (p.Ile1460Met) c.2444T>G c.4257T>G (p.Ile1419Met) c.4413T>G (p.Ile1471Met) | |
12 | g.51789380G>A | CA384908531 | SCN8A | c.4381G>A (p.Gly1461Ser) c.2445G>A c.4258G>A (p.Gly1420Ser) c.4414G>A (p.Gly1472Ser) | |
12 | g.51789380G>C | CA384908532 | SCN8A | c.4381G>C (p.Gly1461Arg) c.2445G>C c.4258G>C (p.Gly1420Arg) c.4414G>C (p.Gly1472Arg) | |
12 | g.51789380G>T | CA384908533 | SCN8A | c.4381G>T (p.Gly1461Cys) c.2445G>T c.4258G>T (p.Gly1420Cys) c.4414G>T (p.Gly1472Cys) | |
12 | g.51789381G>A | CA384908534 | SCN8A | c.4382G>A (p.Gly1461Asp) c.2446G>A c.4259G>A (p.Gly1420Asp) c.4415G>A (p.Gly1472Asp) | |
12 | g.51789381G>C | CA384908535 | SCN8A | c.4382G>C (p.Gly1461Ala) c.2446G>C c.4259G>C (p.Gly1420Ala) c.4415G>C (p.Gly1472Ala) | |
12 | g.51789381G>T | CA384908536 | SCN8A | c.4382G>T (p.Gly1461Val) c.2446G>T c.4259G>T (p.Gly1420Val) c.4415G>T (p.Gly1472Val) | ClinVar |
12 | g.51789382T>A | CA479795007 | SCN8A | c.4383T>A (p.Gly1461=) c.2447T>A c.4260T>A (p.Gly1420=) c.4416T>A (p.Gly1472=) | |
12 | g.51789382T>C | CA479795008 | SCN8A | c.4383T>C (p.Gly1461=) c.2447T>C c.4260T>C (p.Gly1420=) c.4416T>C (p.Gly1472=) | ClinVar dbSNP |
12 | g.51789382T>G | CA479795009 | SCN8A | c.4383T>G (p.Gly1461=) c.2447T>G c.4260T>G (p.Gly1420=) c.4416T>G (p.Gly1472=) | |
12 | g.51789383G>A | CA384908538 | SCN8A | c.4384G>A (p.Val1462Ile) c.2448G>A c.4261G>A (p.Val1421Ile) c.4417G>A (p.Val1473Ile) | ClinVar dbSNP |
12 | g.51789383G>C | CA384908539 | SCN8A | c.4384G>C (p.Val1462Leu) c.2448G>C c.4261G>C (p.Val1421Leu) c.4417G>C (p.Val1473Leu) | |
12 | g.51789383G>T | CA384908537 | SCN8A | c.4384G>T (p.Val1462Phe) c.2448G>T c.4261G>T (p.Val1421Phe) c.4417G>T (p.Val1473Phe) | |
12 | g.51789384T>A | CA384908540 | SCN8A | c.4385T>A (p.Val1462Asp) c.2449T>A c.4262T>A (p.Val1421Asp) c.4418T>A (p.Val1473Asp) | |
12 | g.51789384T>C | CA384908541 | SCN8A | c.4385T>C (p.Val1462Ala) c.2449T>C c.4262T>C (p.Val1421Ala) c.4418T>C (p.Val1473Ala) | |
12 | g.51789384T>G | CA384908542 | SCN8A | c.4385T>G (p.Val1462Gly) c.2449T>G c.4262T>G (p.Val1421Gly) c.4418T>G (p.Val1473Gly) | |
12 | g.51789385C>A | CA479795011 | SCN8A | c.4386C>A (p.Val1462=) c.2450C>A c.4263C>A (p.Val1421=) c.4419C>A (p.Val1473=) | |
12 | g.51789385C>G | CA479795012 | SCN8A | c.4386C>G (p.Val1462=) c.2450C>G c.4263C>G (p.Val1421=) c.4419C>G (p.Val1473=) | |
12 | g.51789385C>T | CA479795013 | SCN8A | c.4386C>T (p.Val1462=) c.2450C>T c.4263C>T (p.Val1421=) c.4419C>T (p.Val1473=) | |
12 | g.51789386A>C | CA384908543 | SCN8A | c.4387A>C (p.Ile1463Leu) c.2451A>C c.4264A>C (p.Ile1422Leu) c.4420A>C (p.Ile1474Leu) | |
12 | g.51789386A>G | CA384908544 | SCN8A | c.4387A>G (p.Ile1463Val) c.2451A>G c.4264A>G (p.Ile1422Val) c.4420A>G (p.Ile1474Val) | |
12 | g.51789386A>T | CA384908545 | SCN8A | c.4387A>T (p.Ile1463Phe) c.2451A>T c.4264A>T (p.Ile1422Phe) c.4420A>T (p.Ile1474Phe) | |
12 | g.51789387T>A | CA384908546 | SCN8A | c.4388T>A (p.Ile1463Asn) c.2452T>A c.4265T>A (p.Ile1422Asn) c.4421T>A (p.Ile1474Asn) | |
12 | g.51789387T>C | CA384908548 | SCN8A | c.4388T>C (p.Ile1463Thr) c.2452T>C c.4265T>C (p.Ile1422Thr) c.4421T>C (p.Ile1474Thr) | |
12 | g.51789387T>G | CA384908547 | SCN8A | c.4388T>G (p.Ile1463Ser) c.2452T>G c.4265T>G (p.Ile1422Ser) c.4421T>G (p.Ile1474Ser) | |
12 | g.51789388C>A | CA479795014 | SCN8A | c.4389C>A (p.Ile1463=) c.2453C>A c.4266C>A (p.Ile1422=) c.4422C>A (p.Ile1474=) | |
12 | g.51789388C>G | CA384908549 | SCN8A | c.4389C>G (p.Ile1463Met) c.2453C>G c.4266C>G (p.Ile1422Met) c.4422C>G (p.Ile1474Met) | |
12 | g.51789388C>T | CA479795016 | SCN8A | c.4389C>T (p.Ile1463=) c.2453C>T c.4266C>T (p.Ile1422=) c.4422C>T (p.Ile1474=) | gnomAD v4 |
12 | g.51789389A>C | CA384908550 | SCN8A | c.4390A>C (p.Ile1464Leu) c.2454A>C c.4267A>C (p.Ile1423Leu) c.4423A>C (p.Ile1475Leu) | |
12 | g.51789389A>G | CA384908551 | SCN8A | c.4390A>G (p.Ile1464Val) c.2454A>G c.4267A>G (p.Ile1423Val) c.4423A>G (p.Ile1475Val) | |
12 | g.51789389A>T | CA384908552 | SCN8A | c.4390A>T (p.Ile1464Phe) c.2454A>T c.4267A>T (p.Ile1423Phe) c.4423A>T (p.Ile1475Phe) | |
12 | g.51789390T>A | CA384908553 | SCN8A | c.4391T>A (p.Ile1464Asn) c.2455T>A c.4268T>A (p.Ile1423Asn) c.4424T>A (p.Ile1475Asn) | |
12 | g.51789390T>C | CA384908556 | SCN8A | c.4391T>C (p.Ile1464Thr) c.2455T>C c.4268T>C (p.Ile1423Thr) c.4424T>C (p.Ile1475Thr) | ClinVar dbSNP |
12 | g.51789390T>G | CA384908554 | SCN8A | c.4391T>G (p.Ile1464Ser) c.2455T>G c.4268T>G (p.Ile1423Ser) c.4424T>G (p.Ile1475Ser) | |
12 | g.51789391T>A | CA479795017 | SCN8A | c.4392T>A (p.Ile1464=) c.2456T>A c.4269T>A (p.Ile1423=) c.4425T>A (p.Ile1475=) | |
12 | g.51789391T>C | CA479795018 | SCN8A | c.4392T>C (p.Ile1464=) c.2456T>C c.4269T>C (p.Ile1423=) c.4425T>C (p.Ile1475=) | |
12 | g.51789391T>G | CA384908557 | SCN8A | c.4392T>G (p.Ile1464Met) c.2456T>G c.4269T>G (p.Ile1423Met) c.4425T>G (p.Ile1475Met) | |
12 | g.51789392del | CA2695216827 | SCN8A | c.4393del (p.Asp1465IlefsTer17) c.2457del c.4270del (p.Asp1424IlefsTer17) c.4426del (p.Asp1476IlefsTer17) | |
12 | g.51789392G>A | CA384908558 | SCN8A | c.4393G>A (p.Asp1465Asn) c.2457G>A c.4270G>A (p.Asp1424Asn) c.4426G>A (p.Asp1476Asn) | ClinVar dbSNP |
12 | g.51789392G>C | CA384908559 | SCN8A | c.4393G>C (p.Asp1465His) c.2457G>C c.4270G>C (p.Asp1424His) c.4426G>C (p.Asp1476His) | |
12 | g.51789392G= | CA2036172262 | SCN8A | c.4393G= (p.Asp1465=) c.2457G= c.4270G= (p.Asp1424=) c.4426G= (p.Asp1476=) | |
12 | g.51789392G>T | CA384908560 | SCN8A | c.4393G>T (p.Asp1465Tyr) c.2457G>T c.4270G>T (p.Asp1424Tyr) c.4426G>T (p.Asp1476Tyr) | |
12 | g.51789393A= | CA2036172266 | SCN8A | c.4394A= (p.Asp1465=) c.2458A= c.4271A= (p.Asp1424=) c.4427A= (p.Asp1476=) | |
12 | g.51789393A>C | CA384908561 | SCN8A | c.4394A>C (p.Asp1465Ala) c.2458A>C c.4271A>C (p.Asp1424Ala) c.4427A>C (p.Asp1476Ala) | |
12 | g.51789393A>G | CA384908562 | SCN8A | c.4394A>G (p.Asp1465Gly) c.2458A>G c.4271A>G (p.Asp1424Gly) c.4427A>G (p.Asp1476Gly) | ClinVar |
12 | g.51789393A>T | CA384908563 | SCN8A | c.4394A>T (p.Asp1465Val) c.2458A>T c.4271A>T (p.Asp1424Val) c.4427A>T (p.Asp1476Val) | ClinVar dbSNP |
12 | g.51789394T>A | CA384908564 | SCN8A | c.4395T>A (p.Asp1465Glu) c.2459T>A c.4272T>A (p.Asp1424Glu) c.4428T>A (p.Asp1476Glu) | |
12 | g.51789394T>C | CA479795021 | SCN8A | c.4395T>C (p.Asp1465=) c.2459T>C c.4272T>C (p.Asp1424=) c.4428T>C (p.Asp1476=) | |
12 | g.51789394T>G | CA384908565 | SCN8A | c.4395T>G (p.Asp1465Glu) c.2459T>G c.4272T>G (p.Asp1424Glu) c.4428T>G (p.Asp1476Glu) |