Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51806277C>T | CA2618841322 | SCN8A | c.4796-5C>T (n.4796-5C>T) c.2860-5C>T c.4673-5C>T (n.4673-5C>T) c.4829-5C>T (n.4829-5C>T) | gnomAD v4 |
12 | g.51806280A>C | CA384880247 | SCN8A | c.4796-2A>C (n.4796-2A>C) c.2860-2A>C c.4673-2A>C (n.4673-2A>C) c.4829-2A>C (n.4829-2A>C) | |
12 | g.51806280A>G | CA384880248 | SCN8A | c.4796-2A>G (n.4796-2A>G) c.2860-2A>G c.4673-2A>G (n.4673-2A>G) c.4829-2A>G (n.4829-2A>G) | |
12 | g.51806280A>T | CA384880249 | SCN8A | c.4796-2A>T (n.4796-2A>T) c.2860-2A>T c.4673-2A>T (n.4673-2A>T) c.4829-2A>T (n.4829-2A>T) | |
12 | g.51806281G>A | CA384880250 | SCN8A | c.4796-1G>A (n.4796-1G>A) c.2860-1G>A c.4673-1G>A (n.4673-1G>A) c.4829-1G>A (n.4829-1G>A) | |
12 | g.51806281G>C | CA384880251 | SCN8A | c.4796-1G>C (n.4796-1G>C) c.2860-1G>C c.4673-1G>C (n.4673-1G>C) c.4829-1G>C (n.4829-1G>C) | |
12 | g.51806281G>T | CA384880252 | SCN8A | c.4796-1G>T (n.4796-1G>T) c.2860-1G>T c.4673-1G>T (n.4673-1G>T) c.4829-1G>T (n.4829-1G>T) | gnomAD v4 |
12 | g.51806282G>A | CA384880253 | SCN8A | c.4796G>A (p.Gly1599Glu) c.2860G>A c.4673G>A (p.Gly1558Glu) c.4829G>A (p.Gly1610Glu) | |
12 | g.51806282G>C | CA384880255 | SCN8A | c.4796G>C (p.Gly1599Ala) c.2860G>C c.4673G>C (p.Gly1558Ala) c.4829G>C (p.Gly1610Ala) | |
12 | g.51806282G>T | CA384880254 | SCN8A | c.4796G>T (p.Gly1599Val) c.2860G>T c.4673G>T (p.Gly1558Val) c.4829G>T (p.Gly1610Val) | gnomAD v4 |
12 | g.51806283A>C | CA479787987 | SCN8A | c.4797A>C (p.Gly1599=) c.2861A>C c.4674A>C (p.Gly1558=) c.4830A>C (p.Gly1610=) | |
12 | g.51806283A>G | CA479787988 | SCN8A | c.4797A>G (p.Gly1599=) c.2861A>G c.4674A>G (p.Gly1558=) c.4830A>G (p.Gly1610=) | |
12 | g.51806283A>T | CA479787989 | SCN8A | c.4797A>T (p.Gly1599=) c.2861A>T c.4674A>T (p.Gly1558=) c.4830A>T (p.Gly1610=) | |
12 | g.51806284A= | CA2036192673 | SCN8A | c.4798A= (p.Met1600=) c.2862A= c.4675A= (p.Met1559=) c.4831A= (p.Met1611=) | |
12 | g.51806284A>C | CA384880256 | SCN8A | c.4798A>C (p.Met1600Leu) c.2862A>C c.4675A>C (p.Met1559Leu) c.4831A>C (p.Met1611Leu) | |
12 | g.51806284A>G | CA318286 | SCN8A | c.4798A>G (p.Met1600Val) c.2862A>G c.4675A>G (p.Met1559Val) c.4831A>G (p.Met1611Val) | ClinVar dbSNP |
12 | g.51806284A>T | CA384880257 | SCN8A | c.4798A>T (p.Met1600Leu) c.2862A>T c.4675A>T (p.Met1559Leu) c.4831A>T (p.Met1611Leu) | |
12 | g.51806285T>A | CA384880258 | SCN8A | c.4799T>A (p.Met1600Lys) c.2863T>A c.4676T>A (p.Met1559Lys) c.4832T>A (p.Met1611Lys) | |
12 | g.51806285T>C | CA384880259 | SCN8A | c.4799T>C (p.Met1600Thr) c.2863T>C c.4676T>C (p.Met1559Thr) c.4832T>C (p.Met1611Thr) | |
12 | g.51806285T>G | CA384880260 | SCN8A | c.4799T>G (p.Met1600Arg) c.2863T>G c.4676T>G (p.Met1559Arg) c.4832T>G (p.Met1611Arg) | |
12 | g.51806286G>A | CA384880261 | SCN8A | c.4800G>A (p.Met1600Ile) c.2864G>A c.4677G>A (p.Met1559Ile) c.4833G>A (p.Met1611Ile) | ClinVar dbSNP |
12 | g.51806286G>C | CA384880262 | SCN8A | c.4800G>C (p.Met1600Ile) c.2864G>C c.4677G>C (p.Met1559Ile) c.4833G>C (p.Met1611Ile) | |
12 | g.51806286G= | CA2036192686 | SCN8A | c.4800G= (p.Met1600=) c.2864G= c.4677G= (p.Met1559=) c.4833G= (p.Met1611=) | |
12 | g.51806286G>T | CA384880263 | SCN8A | c.4800G>T (p.Met1600Ile) c.2864G>T c.4677G>T (p.Met1559Ile) c.4833G>T (p.Met1611Ile) | |
12 | g.51806287T>A | CA384880264 | SCN8A | c.4801T>A (p.Phe1601Ile) c.2865T>A c.4678T>A (p.Phe1560Ile) c.4834T>A (p.Phe1612Ile) | |
12 | g.51806287T>C | CA384880265 | SCN8A | c.4801T>C (p.Phe1601Leu) c.2865T>C c.4678T>C (p.Phe1560Leu) c.4834T>C (p.Phe1612Leu) | |
12 | g.51806287T>G | CA384880266 | SCN8A | c.4801T>G (p.Phe1601Val) c.2865T>G c.4678T>G (p.Phe1560Val) c.4834T>G (p.Phe1612Val) | |
12 | g.51806288T>A | CA384880267 | SCN8A | c.4802T>A (p.Phe1601Tyr) c.2866T>A c.4679T>A (p.Phe1560Tyr) c.4835T>A (p.Phe1612Tyr) | |
12 | g.51806288T>C | CA384880268 | SCN8A | c.4802T>C (p.Phe1601Ser) c.2866T>C c.4679T>C (p.Phe1560Ser) c.4835T>C (p.Phe1612Ser) | |
12 | g.51806288T>G | CA384880269 | SCN8A | c.4802T>G (p.Phe1601Cys) c.2866T>G c.4679T>G (p.Phe1560Cys) c.4835T>G (p.Phe1612Cys) | |
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=) |