Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806289C>A | CA384880271 | SCN8A | c.4803C>A (p.Phe1601Leu) c.2867C>A c.4680C>A (p.Phe1560Leu) c.4836C>A (p.Phe1612Leu) | |
12 | g.51806289C>G | CA384880270 | SCN8A | c.4803C>G (p.Phe1601Leu) c.2867C>G c.4680C>G (p.Phe1560Leu) c.4836C>G (p.Phe1612Leu) | |
12 | g.51806289C>T | CA479787990 | SCN8A | c.4803C>T (p.Phe1601=) c.2867C>T c.4680C>T (p.Phe1560=) c.4836C>T (p.Phe1612=) | |
12 | g.51806290C>A | CA384880272 | SCN8A | c.4804C>A (p.Leu1602Met) c.2868C>A c.4681C>A (p.Leu1561Met) c.4837C>A (p.Leu1613Met) | |
12 | g.51806290C>G | CA384880273 | SCN8A | c.4804C>G (p.Leu1602Val) c.2868C>G c.4681C>G (p.Leu1561Val) c.4837C>G (p.Leu1613Val) | |
12 | g.51806290C>T | CA479787991 | SCN8A | c.4804C>T (p.Leu1602=) c.2868C>T c.4681C>T (p.Leu1561=) c.4837C>T (p.Leu1613=) | |
12 | g.51806291T>A | CA384880274 | SCN8A | c.4805T>A (p.Leu1602Gln) c.2869T>A c.4682T>A (p.Leu1561Gln) c.4838T>A (p.Leu1613Gln) | |
12 | g.51806291T>C | CA384880275 | SCN8A | c.4805T>C (p.Leu1602Pro) c.2869T>C c.4682T>C (p.Leu1561Pro) c.4838T>C (p.Leu1613Pro) | |
12 | g.51806291T>G | CA384880276 | SCN8A | c.4805T>G (p.Leu1602Arg) c.2869T>G c.4682T>G (p.Leu1561Arg) c.4838T>G (p.Leu1613Arg) | |
12 | g.51806292G>A | CA6571872 | SCN8A | c.4806G>A (p.Leu1602=) c.2870G>A c.4683G>A (p.Leu1561=) c.4839G>A (p.Leu1613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51806292G>C | CA479787992 | SCN8A | c.4806G>C (p.Leu1602=) c.2870G>C c.4683G>C (p.Leu1561=) c.4839G>C (p.Leu1613=) | |
12 | g.51806292G= | CA2036192691 | SCN8A | c.4806G= (p.Leu1602=) c.2870G= c.4683G= (p.Leu1561=) c.4839G= (p.Leu1613=) | |
12 | g.51806292G>T | CA479787993 | SCN8A | c.4806G>T (p.Leu1602=) c.2870G>T c.4683G>T (p.Leu1561=) c.4839G>T (p.Leu1613=) | |
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=) |