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