Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806293G>A | CA384880277 | SCN8A | c.4807G>A (p.Ala1603Thr) c.2871G>A c.4684G>A (p.Ala1562Thr) c.4840G>A (p.Ala1614Thr) | |
12 | g.51806293G>C | CA384880278 | SCN8A | c.4807G>C (p.Ala1603Pro) c.2871G>C c.4684G>C (p.Ala1562Pro) c.4840G>C (p.Ala1614Pro) | |
12 | g.51806293G>T | CA384880279 | SCN8A | c.4807G>T (p.Ala1603Ser) c.2871G>T c.4684G>T (p.Ala1562Ser) c.4840G>T (p.Ala1614Ser) | |
12 | g.51806294C>A | CA384880280 | SCN8A | c.4808C>A (p.Ala1603Glu) c.2872C>A c.4685C>A (p.Ala1562Glu) c.4841C>A (p.Ala1614Glu) | gnomAD v4 |
12 | g.51806294C>G | CA384880281 | SCN8A | c.4808C>G (p.Ala1603Gly) c.2872C>G c.4685C>G (p.Ala1562Gly) c.4841C>G (p.Ala1614Gly) | |
12 | g.51806294C>T | CA384880282 | SCN8A | c.4808C>T (p.Ala1603Val) c.2872C>T c.4685C>T (p.Ala1562Val) c.4841C>T (p.Ala1614Val) | gnomAD v4 |
12 | g.51806295A>C | CA479787994 | SCN8A | c.4809A>C (p.Ala1603=) c.2873A>C c.4686A>C (p.Ala1562=) c.4842A>C (p.Ala1614=) | |
12 | g.51806295A>G | CA479787995 | SCN8A | c.4809A>G (p.Ala1603=) c.2873A>G c.4686A>G (p.Ala1562=) c.4842A>G (p.Ala1614=) | COSMIC COSMIC |
12 | g.51806295A>T | CA479787996 | SCN8A | c.4809A>T (p.Ala1603=) c.2873A>T c.4686A>T (p.Ala1562=) c.4842A>T (p.Ala1614=) | |
12 | g.51806296G>A | CA384880285 | SCN8A | c.4810G>A (p.Asp1604Asn) c.2874G>A c.4687G>A (p.Asp1563Asn) c.4843G>A (p.Asp1615Asn) | |
12 | g.51806296G>C | CA384880284 | SCN8A | c.4810G>C (p.Asp1604His) c.2874G>C c.4687G>C (p.Asp1563His) c.4843G>C (p.Asp1615His) | |
12 | g.51806296G>T | CA384880283 | SCN8A | c.4810G>T (p.Asp1604Tyr) c.2874G>T c.4687G>T (p.Asp1563Tyr) c.4843G>T (p.Asp1615Tyr) | |
12 | g.51806297A>C | CA384880288 | SCN8A | c.4811A>C (p.Asp1604Ala) c.2875A>C c.4688A>C (p.Asp1563Ala) c.4844A>C (p.Asp1615Ala) | |
12 | g.51806297A>G | CA384880286 | SCN8A | c.4811A>G (p.Asp1604Gly) c.2875A>G c.4688A>G (p.Asp1563Gly) c.4844A>G (p.Asp1615Gly) | |
12 | g.51806297A>T | CA384880287 | SCN8A | c.4811A>T (p.Asp1604Val) c.2875A>T c.4688A>T (p.Asp1563Val) c.4844A>T (p.Asp1615Val) | |
12 | g.51806298T>A | CA384880289 | SCN8A | c.4812T>A (p.Asp1604Glu) c.2876T>A c.4689T>A (p.Asp1563Glu) c.4845T>A (p.Asp1615Glu) | |
12 | g.51806298T>C | CA479787997 | SCN8A | c.4812T>C (p.Asp1604=) c.2876T>C c.4689T>C (p.Asp1563=) c.4845T>C (p.Asp1615=) | dbSNP |
12 | g.51806298T>G | CA384880290 | SCN8A | c.4812T>G (p.Asp1604Glu) c.2876T>G c.4689T>G (p.Asp1563Glu) c.4845T>G (p.Asp1615Glu) | |
12 | g.51806298T= | CA2036192701 | SCN8A | c.4812T= (p.Asp1604=) c.2876T= c.4689T= (p.Asp1563=) c.4845T= (p.Asp1615=) | |
12 | g.51806299A= | CA2036192710 | SCN8A | c.4813A= (p.Ile1605=) c.2877A= c.4690A= (p.Ile1564=) c.4846A= (p.Ile1616=) | |
12 | g.51806299A>C | CA384880291 | SCN8A | c.4813A>C (p.Ile1605Leu) c.2877A>C c.4690A>C (p.Ile1564Leu) c.4846A>C (p.Ile1616Leu) | |
12 | g.51806299A>G | CA10586304 | SCN8A | c.4813A>G (p.Ile1605Val) c.2877A>G c.4690A>G (p.Ile1564Val) c.4846A>G (p.Ile1616Val) | ClinVar dbSNP |
12 | g.51806299A>T | CA384880292 | SCN8A | c.4813A>T (p.Ile1605Leu) c.2877A>T c.4690A>T (p.Ile1564Leu) c.4846A>T (p.Ile1616Leu) | |
12 | g.51806300T>A | CA384880293 | SCN8A | c.4814T>A (p.Ile1605Lys) c.2878T>A c.4691T>A (p.Ile1564Lys) c.4847T>A (p.Ile1616Lys) | |
12 | g.51806300T>C | CA384880295 | SCN8A | c.4814T>C (p.Ile1605Thr) c.2878T>C c.4691T>C (p.Ile1564Thr) c.4847T>C (p.Ile1616Thr) | ClinVar dbSNP |
12 | g.51806300T>G | CA384880294 | SCN8A | c.4814T>G (p.Ile1605Arg) c.2878T>G c.4691T>G (p.Ile1564Arg) c.4847T>G (p.Ile1616Arg) | |
12 | g.51806301A>C | CA479787998 | SCN8A | c.4815A>C (p.Ile1605=) c.2879A>C c.4692A>C (p.Ile1564=) c.4848A>C (p.Ile1616=) | |
12 | g.51806301A>G | CA384880296 | SCN8A | c.4815A>G (p.Ile1605Met) c.2879A>G c.4692A>G (p.Ile1564Met) c.4848A>G (p.Ile1616Met) | |
12 | g.51806301A>T | CA479787999 | SCN8A | c.4815A>T (p.Ile1605=) c.2879A>T c.4692A>T (p.Ile1564=) c.4848A>T (p.Ile1616=) | |
12 | g.51806302A>C | CA384880297 | SCN8A | c.4816A>C (p.Ile1606Leu) c.2880A>C c.4693A>C (p.Ile1565Leu) c.4849A>C (p.Ile1617Leu) | |
12 | g.51806302A>G | CA384880298 | SCN8A | c.4816A>G (p.Ile1606Val) c.2880A>G c.4693A>G (p.Ile1565Val) c.4849A>G (p.Ile1617Val) | |
12 | g.51806302A>T | CA384880299 | SCN8A | c.4816A>T (p.Ile1606Phe) c.2880A>T c.4693A>T (p.Ile1565Phe) c.4849A>T (p.Ile1617Phe) | |
12 | g.51806303T>A | CA384880300 | SCN8A | c.4817T>A (p.Ile1606Asn) c.2881T>A c.4694T>A (p.Ile1565Asn) c.4850T>A (p.Ile1617Asn) | |
12 | g.51806303T>C | CA384880302 | SCN8A | c.4817T>C (p.Ile1606Thr) c.2881T>C c.4694T>C (p.Ile1565Thr) c.4850T>C (p.Ile1617Thr) | ClinVar dbSNP |
12 | g.51806303T>G | CA384880301 | SCN8A | c.4817T>G (p.Ile1606Ser) c.2881T>G c.4694T>G (p.Ile1565Ser) c.4850T>G (p.Ile1617Ser) | |
12 | g.51806304T>A | CA479788000 | SCN8A | c.4818T>A (p.Ile1606=) c.2882T>A c.4695T>A (p.Ile1565=) c.4851T>A (p.Ile1617=) | |
12 | g.51806304T>C | CA479788001 | SCN8A | c.4818T>C (p.Ile1606=) c.2882T>C c.4695T>C (p.Ile1565=) c.4851T>C (p.Ile1617=) | |
12 | g.51806304T>G | CA384880303 | SCN8A | c.4818T>G (p.Ile1606Met) c.2882T>G c.4695T>G (p.Ile1565Met) c.4851T>G (p.Ile1617Met) | |
12 | g.51806305G>A | CA384880304 | SCN8A | c.4819G>A (p.Glu1607Lys) c.2883G>A c.4696G>A (p.Glu1566Lys) c.4852G>A (p.Glu1618Lys) | ClinVar dbSNP COSMIC COSMIC |
12 | g.51806305G>C | CA384880305 | SCN8A | c.4819G>C (p.Glu1607Gln) c.2883G>C c.4696G>C (p.Glu1566Gln) c.4852G>C (p.Glu1618Gln) | COSMIC COSMIC |
12 | g.51806305G= | CA2036192718 | SCN8A | c.4819G= (p.Glu1607=) c.2883G= c.4696G= (p.Glu1566=) c.4852G= (p.Glu1618=) | |
12 | g.51806305G>T | CA384880306 | SCN8A | c.4819G>T (p.Glu1607Ter) c.2883G>T c.4696G>T (p.Glu1566Ter) c.4852G>T (p.Glu1618Ter) | dbSNP |
12 | g.51806306A>C | CA384880307 | SCN8A | c.4820A>C (p.Glu1607Ala) c.2884A>C c.4697A>C (p.Glu1566Ala) c.4853A>C (p.Glu1618Ala) | |
12 | g.51806306A>G | CA384880308 | SCN8A | c.4820A>G (p.Glu1607Gly) c.2884A>G c.4697A>G (p.Glu1566Gly) c.4853A>G (p.Glu1618Gly) | |
12 | g.51806306A>T | CA384880309 | SCN8A | c.4820A>T (p.Glu1607Val) c.2884A>T c.4697A>T (p.Glu1566Val) c.4853A>T (p.Glu1618Val) | |
12 | g.51806307G>A | CA479788003 | SCN8A | c.4821G>A (p.Glu1607=) c.2885G>A c.4698G>A (p.Glu1566=) c.4854G>A (p.Glu1618=) | |
12 | g.51806307G>C | CA384880310 | SCN8A | c.4821G>C (p.Glu1607Asp) c.2885G>C c.4698G>C (p.Glu1566Asp) c.4854G>C (p.Glu1618Asp) | |
12 | g.51806307G>T | CA384880311 | SCN8A | c.4821G>T (p.Glu1607Asp) c.2885G>T c.4698G>T (p.Glu1566Asp) c.4854G>T (p.Glu1618Asp) | |
12 | g.51806308A>C | CA384880312 | SCN8A | c.4822A>C (p.Lys1608Gln) c.2886A>C c.4699A>C (p.Lys1567Gln) c.4855A>C (p.Lys1619Gln) | |
12 | g.51806308A>G | CA384880313 | SCN8A | c.4822A>G (p.Lys1608Glu) c.2886A>G c.4699A>G (p.Lys1567Glu) c.4855A>G (p.Lys1619Glu) |