| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |