| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51806280A>C | CA384880247 | SCN8A | c.4673-2A>C (p.=) c.4796-2A>C (p.=) n.4673-2A>C (p.=) n.4829-2A>C (p.=) n.4796-2A>C (p.=) | |
| 12 | g.51806280A>G | CA384880248 | SCN8A | c.4673-2A>G (p.=) c.4796-2A>G (p.=) n.4673-2A>G (p.=) n.4829-2A>G (p.=) n.4796-2A>G (p.=) | |
| 12 | g.51806280A>T | CA384880249 | SCN8A | c.4673-2A>T (p.=) c.4796-2A>T (p.=) n.4673-2A>T (p.=) n.4829-2A>T (p.=) n.4796-2A>T (p.=) | |
| 12 | g.51806281G>A | CA384880250 | SCN8A | c.4673-1G>A (p.=) c.4796-1G>A (p.=) n.4673-1G>A (p.=) n.4829-1G>A (p.=) n.4796-1G>A (p.=) | |
| 12 | g.51806281G>C | CA384880251 | SCN8A | c.4673-1G>C (p.=) c.4796-1G>C (p.=) n.4673-1G>C (p.=) n.4829-1G>C (p.=) n.4796-1G>C (p.=) | |
| 12 | g.51806281G>T | CA384880252 | SCN8A | c.4673-1G>T (p.=) c.4796-1G>T (p.=) n.4673-1G>T (p.=) n.4829-1G>T (p.=) n.4796-1G>T (p.=) | |
| 12 | g.51806282G>A | CA384880253 | SCN8A | c.4673G>A (p.Gly1558Glu) c.4796G>A (p.Gly1599Glu) n.4673G>A (p.Gly1558Glu) n.4829G>A (p.Gly1610Glu) n.4796G>A (p.Gly1599Glu) | |
| 12 | g.51806282G>C | CA384880255 | SCN8A | c.4673G>C (p.Gly1558Ala) c.4796G>C (p.Gly1599Ala) n.4673G>C (p.Gly1558Ala) n.4829G>C (p.Gly1610Ala) n.4796G>C (p.Gly1599Ala) | |
| 12 | g.51806282G>T | CA384880254 | SCN8A | c.4673G>T (p.Gly1558Val) c.4796G>T (p.Gly1599Val) n.4673G>T (p.Gly1558Val) n.4829G>T (p.Gly1610Val) n.4796G>T (p.Gly1599Val) | |
| 12 | g.51806283A>C | CA479787987 | SCN8A | c.4674A>C (p.Gly1558=) c.4797A>C (p.Gly1599=) n.4674A>C (p.Gly1558=) n.4830A>C (p.Gly1610=) n.4797A>C (p.Gly1599=) | |
| 12 | g.51806283A>G | CA479787988 | SCN8A | c.4674A>G (p.Gly1558=) c.4797A>G (p.Gly1599=) n.4674A>G (p.Gly1558=) n.4830A>G (p.Gly1610=) n.4797A>G (p.Gly1599=) | |
| 12 | g.51806283A>T | CA479787989 | SCN8A | c.4674A>T (p.Gly1558=) c.4797A>T (p.Gly1599=) n.4674A>T (p.Gly1558=) n.4830A>T (p.Gly1610=) n.4797A>T (p.Gly1599=) | |
| 12 | g.51806284A>C | CA384880256 | SCN8A | c.4675A>C (p.Met1559Leu) c.4798A>C (p.Met1600Leu) n.4675A>C (p.Met1559Leu) n.4831A>C (p.Met1611Leu) n.4798A>C (p.Met1600Leu) | |
| 12 | g.51806284A>G | CA318286 | SCN8A | c.4675A>G (p.Met1559Val) c.4798A>G (p.Met1600Val) n.4675A>G (p.Met1559Val) n.4831A>G (p.Met1611Val) n.4798A>G (p.Met1600Val) | ClinVar dbSNP |
| 12 | g.51806284A>T | CA384880257 | SCN8A | c.4675A>T (p.Met1559Leu) c.4798A>T (p.Met1600Leu) n.4675A>T (p.Met1559Leu) n.4831A>T (p.Met1611Leu) n.4798A>T (p.Met1600Leu) | |
| 12 | g.51806285T>A | CA384880258 | SCN8A | c.4676T>A (p.Met1559Lys) c.4799T>A (p.Met1600Lys) n.4676T>A (p.Met1559Lys) n.4832T>A (p.Met1611Lys) n.4799T>A (p.Met1600Lys) | |
| 12 | g.51806285T>C | CA384880259 | SCN8A | c.4676T>C (p.Met1559Thr) c.4799T>C (p.Met1600Thr) n.4676T>C (p.Met1559Thr) n.4832T>C (p.Met1611Thr) n.4799T>C (p.Met1600Thr) | |
| 12 | g.51806285T>G | CA384880260 | SCN8A | c.4676T>G (p.Met1559Arg) c.4799T>G (p.Met1600Arg) n.4676T>G (p.Met1559Arg) n.4832T>G (p.Met1611Arg) n.4799T>G (p.Met1600Arg) | |
| 12 | g.51806286G>A | CA384880261 | SCN8A | c.4677G>A (p.Met1559Ile) c.4800G>A (p.Met1600Ile) n.4677G>A (p.Met1559Ile) n.4833G>A (p.Met1611Ile) n.4800G>A (p.Met1600Ile) | ClinVar |
| 12 | g.51806286G>C | CA384880262 | SCN8A | c.4677G>C (p.Met1559Ile) c.4800G>C (p.Met1600Ile) n.4677G>C (p.Met1559Ile) n.4833G>C (p.Met1611Ile) n.4800G>C (p.Met1600Ile) | |
| 12 | g.51806286G>T | CA384880263 | SCN8A | c.4677G>T (p.Met1559Ile) c.4800G>T (p.Met1600Ile) n.4677G>T (p.Met1559Ile) n.4833G>T (p.Met1611Ile) n.4800G>T (p.Met1600Ile) | |
| 12 | g.51806287T>A | CA384880264 | SCN8A | c.4678T>A (p.Phe1560Ile) c.4801T>A (p.Phe1601Ile) n.4678T>A (p.Phe1560Ile) n.4834T>A (p.Phe1612Ile) n.4801T>A (p.Phe1601Ile) | |
| 12 | g.51806287T>C | CA384880265 | SCN8A | c.4678T>C (p.Phe1560Leu) c.4801T>C (p.Phe1601Leu) n.4678T>C (p.Phe1560Leu) n.4834T>C (p.Phe1612Leu) n.4801T>C (p.Phe1601Leu) | |
| 12 | g.51806287T>G | CA384880266 | SCN8A | c.4678T>G (p.Phe1560Val) c.4801T>G (p.Phe1601Val) n.4678T>G (p.Phe1560Val) n.4834T>G (p.Phe1612Val) n.4801T>G (p.Phe1601Val) | |
| 12 | g.51806288T>A | CA384880267 | SCN8A | c.4679T>A (p.Phe1560Tyr) c.4802T>A (p.Phe1601Tyr) n.4679T>A (p.Phe1560Tyr) n.4835T>A (p.Phe1612Tyr) n.4802T>A (p.Phe1601Tyr) | |
| 12 | g.51806288T>C | CA384880268 | SCN8A | c.4679T>C (p.Phe1560Ser) c.4802T>C (p.Phe1601Ser) n.4679T>C (p.Phe1560Ser) n.4835T>C (p.Phe1612Ser) n.4802T>C (p.Phe1601Ser) | |
| 12 | g.51806288T>G | CA384880269 | SCN8A | c.4679T>G (p.Phe1560Cys) c.4802T>G (p.Phe1601Cys) n.4679T>G (p.Phe1560Cys) n.4835T>G (p.Phe1612Cys) n.4802T>G (p.Phe1601Cys) | |
| 12 | g.51806289C>A | CA384880271 | SCN8A | c.4680C>A (p.Phe1560Leu) c.4803C>A (p.Phe1601Leu) n.4680C>A (p.Phe1560Leu) n.4836C>A (p.Phe1612Leu) n.4803C>A (p.Phe1601Leu) | |
| 12 | g.51806289C>G | CA384880270 | SCN8A | c.4680C>G (p.Phe1560Leu) c.4803C>G (p.Phe1601Leu) n.4680C>G (p.Phe1560Leu) n.4836C>G (p.Phe1612Leu) n.4803C>G (p.Phe1601Leu) | |
| 12 | g.51806289C>T | CA479787990 | SCN8A | c.4680C>T (p.Phe1560=) c.4803C>T (p.Phe1601=) n.4680C>T (p.Phe1560=) n.4836C>T (p.Phe1612=) n.4803C>T (p.Phe1601=) | |
| 12 | g.51806290C>A | CA384880272 | SCN8A | c.4681C>A (p.Leu1561Met) c.4804C>A (p.Leu1602Met) n.4681C>A (p.Leu1561Met) n.4837C>A (p.Leu1613Met) n.4804C>A (p.Leu1602Met) | |
| 12 | g.51806290C>G | CA384880273 | SCN8A | c.4681C>G (p.Leu1561Val) c.4804C>G (p.Leu1602Val) n.4681C>G (p.Leu1561Val) n.4837C>G (p.Leu1613Val) n.4804C>G (p.Leu1602Val) | |
| 12 | g.51806290C>T | CA479787991 | SCN8A | c.4681C>T (p.Leu1561=) c.4804C>T (p.Leu1602=) n.4681C>T (p.Leu1561=) n.4837C>T (p.Leu1613=) n.4804C>T (p.Leu1602=) | |
| 12 | g.51806291T>A | CA384880274 | SCN8A | c.4682T>A (p.Leu1561Gln) c.4805T>A (p.Leu1602Gln) n.4682T>A (p.Leu1561Gln) n.4838T>A (p.Leu1613Gln) n.4805T>A (p.Leu1602Gln) | |
| 12 | g.51806291T>C | CA384880275 | SCN8A | c.4682T>C (p.Leu1561Pro) c.4805T>C (p.Leu1602Pro) n.4682T>C (p.Leu1561Pro) n.4838T>C (p.Leu1613Pro) n.4805T>C (p.Leu1602Pro) | |
| 12 | g.51806291T>G | CA384880276 | SCN8A | c.4682T>G (p.Leu1561Arg) c.4805T>G (p.Leu1602Arg) n.4682T>G (p.Leu1561Arg) n.4838T>G (p.Leu1613Arg) n.4805T>G (p.Leu1602Arg) | |
| 12 | g.51806292G>A | CA6571872 | SCN8A | c.4683G>A (p.Leu1561=) c.4806G>A (p.Leu1602=) n.4683G>A (p.Leu1561=) n.4839G>A (p.Leu1613=) n.4806G>A (p.Leu1602=) | dbSNP ExAC gnomAD |
| 12 | g.51806292G>C | CA479787992 | SCN8A | c.4683G>C (p.Leu1561=) c.4806G>C (p.Leu1602=) n.4683G>C (p.Leu1561=) n.4839G>C (p.Leu1613=) n.4806G>C (p.Leu1602=) | |
| 12 | g.51806292G>T | CA479787993 | SCN8A | c.4683G>T (p.Leu1561=) c.4806G>T (p.Leu1602=) n.4683G>T (p.Leu1561=) n.4839G>T (p.Leu1613=) n.4806G>T (p.Leu1602=) | |
| 12 | g.51806293G>A | CA384880277 | SCN8A | c.4684G>A (p.Ala1562Thr) c.4807G>A (p.Ala1603Thr) n.4684G>A (p.Ala1562Thr) n.4840G>A (p.Ala1614Thr) n.4807G>A (p.Ala1603Thr) | |
| 12 | g.51806293G>C | CA384880278 | SCN8A | c.4684G>C (p.Ala1562Pro) c.4807G>C (p.Ala1603Pro) n.4684G>C (p.Ala1562Pro) n.4840G>C (p.Ala1614Pro) n.4807G>C (p.Ala1603Pro) | |
| 12 | g.51806293G>T | CA384880279 | SCN8A | c.4684G>T (p.Ala1562Ser) c.4807G>T (p.Ala1603Ser) n.4684G>T (p.Ala1562Ser) n.4840G>T (p.Ala1614Ser) n.4807G>T (p.Ala1603Ser) | |
| 12 | g.51806294C>A | CA384880280 | SCN8A | c.4685C>A (p.Ala1562Glu) c.4808C>A (p.Ala1603Glu) n.4685C>A (p.Ala1562Glu) n.4841C>A (p.Ala1614Glu) n.4808C>A (p.Ala1603Glu) | |
| 12 | g.51806294C>G | CA384880281 | SCN8A | c.4685C>G (p.Ala1562Gly) c.4808C>G (p.Ala1603Gly) n.4685C>G (p.Ala1562Gly) n.4841C>G (p.Ala1614Gly) n.4808C>G (p.Ala1603Gly) | |
| 12 | g.51806294C>T | CA384880282 | SCN8A | c.4685C>T (p.Ala1562Val) c.4808C>T (p.Ala1603Val) n.4685C>T (p.Ala1562Val) n.4841C>T (p.Ala1614Val) n.4808C>T (p.Ala1603Val) | |
| 12 | g.51806295A>C | CA479787994 | SCN8A | c.4686A>C (p.Ala1562=) c.4809A>C (p.Ala1603=) n.4686A>C (p.Ala1562=) n.4842A>C (p.Ala1614=) n.4809A>C (p.Ala1603=) | |
| 12 | g.51806295A>G | CA479787995 | SCN8A | c.4686A>G (p.Ala1562=) c.4809A>G (p.Ala1603=) n.4686A>G (p.Ala1562=) n.4842A>G (p.Ala1614=) n.4809A>G (p.Ala1603=) | COSMIC COSMIC |
| 12 | g.51806295A>T | CA479787996 | SCN8A | c.4686A>T (p.Ala1562=) c.4809A>T (p.Ala1603=) n.4686A>T (p.Ala1562=) n.4842A>T (p.Ala1614=) n.4809A>T (p.Ala1603=) | |
| 12 | g.51806296G>A | CA384880285 | SCN8A | c.4687G>A (p.Asp1563Asn) c.4810G>A (p.Asp1604Asn) n.4687G>A (p.Asp1563Asn) n.4843G>A (p.Asp1615Asn) n.4810G>A (p.Asp1604Asn) | |
| 12 | g.51806296G>C | CA384880284 | SCN8A | c.4687G>C (p.Asp1563His) c.4810G>C (p.Asp1604His) n.4687G>C (p.Asp1563His) n.4843G>C (p.Asp1615His) n.4810G>C (p.Asp1604His) |